CleftGeneDB-Search

Gene: EVC2

Basic information

Tag	Content
Uniprot ID	Q86UK5; Q86YT3; Q86YT4; Q8NG49;
Entrez ID	132884
Genbank protein ID	BAC06590.1; AAN86578.1; AAN86577.1; AAO22066.1;
Genbank nucleotide ID	NM_001166136.1; NM_147127.4; XM_017007737.1; XM_017007736.1;
Ensembl protein ID	ENSP00000311683; ENSP00000342144;
Ensembl nucleotide ID	ENSG00000173040
Gene name	Limbin
Gene symbol	EVC2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	20087401
Functional description	Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.
Sequence	MDPSGSRGRP TWVLAGGLLA VALALGGRGC LGASSRPRWR PLGAQPPRDP QVAPRSGPGL 60 RIPPGRSGAG PESSTQDLPC MIWPKVECCH FKTAVEAPLG MKLDKKMEVF IPLSTSAASS 120 GPWAHSLFAF IPSWPKKNLF KRESPITHRL YGDISREVQG TSENGVIFQK CALVSGSSEA 180 QTARIWLLVN NTKTTSSANL SELLLLDSIA GLTIWDSVGN RTSEGFQAFS KKFLQVGDAF 240 AVSYAATLQA GDLGNGESLK LPAQLTFQSS SRNRTQLKVL FSITAEENVT VLPHHGLHAA 300 GFFIAFLLSL VLTWAALFLM VRYQCLKGNM LTRHRVWQYE SKLEPLPFTS ADGVNEDLSL 360 NDQMIDILSS EDPGSMLQAL EELEIATLNR ADADLEACRT QISKDIIALL LKNLTSSGHL 420 SPQVERKMSA VFKKQFLLLE NEIQEEYDRK MVALTAECDL ETRKKMENQY QREMMAMEEA 480 EELLKRAGER SAVECSNLLR TLHGLEQEHL RKSLALQQEE DFAKAHRQLA VFQRNELHSI 540 FFTQIKSAIF KGELKPEAAK MLLQNYSKIQ ENVEELMDFF QASKRYHLSK RFGHREYLVQ 600 NLQSSETRVQ GLLSTAAAQL THLIQKHERA GYLDEDQMEM LLERAQTEVF SIKQKLDNDL 660 KQEKKKLHQK LITKRRRELL QKHREQRREQ ASVGEAFRTV EDAGQYLHQK RSLMEEHGAT 720 LEELQERLDQ AALDDLRTLT LSLFEKATDE LRRLQNSAMT QELLKRGVPW LFLQQILEEH 780 GKEMAARAEQ LEGEERDRDQ EGVQSVRQRL KDDAPEAVTE EQAELRRWEH LIFMKLCSSV 840 FSLSEEELLR MRQEVHGCFA QMDRSLALPK IRARVLLQQF QTAWREAEFV KLDQAVAAPE 900 LQQQSKVRKS RSKSKSKGEL LKKCIEDKIH LCEEQASEDL VEKVRGELLR ERVQRMEAQE 960 GGFAQSLVAL QFQKASRVTE TLSAYTALLS IQDLLLEELS ASEMLTKSAC TQILESHSRE 1020 LQELERKLED QLVQQEAAQQ QQALASWQQW VADGPGILNE PGEVDSERQV STVLHQALSK 1080 SQTLLEQHQQ CLREEQQNSV VLEDLLENME ADTFATLCSQ ELRLASYLAR MAMVPGATLR 1140 RLLSVVLPTA SQPQLLALLD SATERHVDHA AESDGGAEQA DVGRRRKHQS WWQALDGKLR 1200 GDLISRGLEK MLWARKRKQS ILKKTCLPLR ERMIFSGKGS WPHLSLEPIG ELAPVPIVGA 1260 ETIDLLNTGE KLFIFRNPKE PEISLHVPPR KKKNFLNAKK AMRALGMD 1308

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	EVC2		F1PZ45	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EVC2		A0A452ELR2	Capra hircus	Prediction	More>>
1:1 ortholog	EVC2	132884	Q86UK5	Homo sapiens	Publication	More>>
1:1 ortholog	Evc2	68525	Q8K1G2	Mus musculus	Prediction	More>>
1:1 ortholog	EVC2	461676	A0A2I3S1F9	Pan troglodytes	Prediction	More>>
1:1 ortholog	Evc2	289711	D3ZWN3	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1413875487	p.Pro3Ser	missense variant	-	NC_000004.12:g.5708507G>A	gnomAD
rs927592733	p.Pro3Leu	missense variant	-	NC_000004.12:g.5708506G>A	gnomAD
rs1468421367	p.Ser4Leu	missense variant	-	NC_000004.12:g.5708503G>A	TOPMed,gnomAD
rs1468421367	p.Ser4Trp	missense variant	-	NC_000004.12:g.5708503G>C	TOPMed,gnomAD
rs969322078	p.Arg7Gln	missense variant	-	NC_000004.12:g.5708494C>T	gnomAD
rs1178938566	p.Arg7Gly	missense variant	-	NC_000004.12:g.5708495G>C	TOPMed,gnomAD
rs1022585059	p.Gly8Glu	missense variant	-	NC_000004.12:g.5708491C>T	gnomAD
rs767618685	p.Pro10Arg	missense variant	-	NC_000004.12:g.5708485G>C	ExAC,gnomAD
rs1279975852	p.Thr11Met	missense variant	-	NC_000004.12:g.5708482G>A	gnomAD
rs1462764709	p.Trp12Arg	missense variant	-	NC_000004.12:g.5708480A>G	TOPMed
rs1352051827	p.Leu14Gln	missense variant	-	NC_000004.12:g.5708473A>T	gnomAD
rs1201835632	p.Ala15Ser	missense variant	-	NC_000004.12:g.5708471C>A	TOPMed
rs1031056362	p.Gly16Arg	missense variant	-	NC_000004.12:g.5708468C>G	gnomAD
rs1031056362	p.Gly16Trp	missense variant	-	NC_000004.12:g.5708468C>A	gnomAD
rs1312959424	p.Gly17Arg	missense variant	-	NC_000004.12:g.5708465C>G	TOPMed,gnomAD
rs761964644	p.Gly17Val	missense variant	-	NC_000004.12:g.5708464C>A	ExAC,gnomAD
rs1312959424	p.Gly17Cys	missense variant	-	NC_000004.12:g.5708465C>A	TOPMed,gnomAD
rs761964644	p.Gly17Ala	missense variant	-	NC_000004.12:g.5708464C>G	ExAC,gnomAD
rs6820907	p.Leu18Phe	missense variant	-	NC_000004.12:g.5708462G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000672151	p.Leu18Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708468dup	ClinVar
RCV000289860	p.Leu18Phe	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5708462G>A	ClinVar
RCV000347215	p.Leu18Phe	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708462G>A	ClinVar
RCV000757228	p.Leu18Phe	missense variant	-	NC_000004.12:g.5708462G>A	ClinVar
RCV000248616	p.Leu18Phe	missense variant	-	NC_000004.12:g.5708462G>A	ClinVar
rs1398732611	p.Ala20Thr	missense variant	-	NC_000004.12:g.5708456C>T	gnomAD
rs1359720330	p.Ala20Val	missense variant	-	NC_000004.12:g.5708455G>A	gnomAD
RCV000670871	p.Ala22Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708452dup	ClinVar
rs768661102	p.Leu23Val	missense variant	-	NC_000004.12:g.5708447G>C	ExAC,TOPMed,gnomAD
rs1162069166	p.Ala24Val	missense variant	-	NC_000004.12:g.5708443G>A	gnomAD
rs1238555308	p.Gly27Ser	missense variant	-	NC_000004.12:g.5708435C>T	gnomAD
rs1190293677	p.Gly27Ala	missense variant	-	NC_000004.12:g.5708434C>G	TOPMed,gnomAD
rs1238555308	p.Gly27Arg	missense variant	-	NC_000004.12:g.5708435C>G	gnomAD
rs1316105051	p.Arg28Ter	stop gained	-	NC_000004.12:g.5708432G>A	TOPMed
rs1487498243	p.Leu31Phe	missense variant	-	NC_000004.12:g.5708423G>A	gnomAD
rs557830930	p.Leu31Pro	missense variant	-	NC_000004.12:g.5708422A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000344052	p.Leu31Pro	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708422A>G	ClinVar
RCV000382272	p.Leu31Pro	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5708422A>G	ClinVar
RCV000560549	p.Leu31Pro	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708422A>G	ClinVar
rs1356057885	p.Gly32Asp	missense variant	-	NC_000004.12:g.5708419C>T	TOPMed,gnomAD
rs1284228783	p.Gly32Arg	missense variant	-	NC_000004.12:g.5708420C>G	TOPMed
rs888701582	p.Ser34Ile	missense variant	-	NC_000004.12:g.5708413C>A	TOPMed,gnomAD
rs888701582	p.Ser34Thr	missense variant	-	NC_000004.12:g.5708413C>G	TOPMed,gnomAD
rs1288009416	p.Ser34Arg	missense variant	-	NC_000004.12:g.5708414T>G	TOPMed,gnomAD
rs888701582	p.Ser34Asn	missense variant	-	NC_000004.12:g.5708413C>T	TOPMed,gnomAD
rs534751425	p.Arg36Cys	missense variant	-	NC_000004.12:g.5708408G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769781725	p.Pro37Ser	missense variant	-	NC_000004.12:g.5708405G>A	ExAC,TOPMed,gnomAD
rs1345487794	p.Trp39Ter	stop gained	-	NC_000004.12:g.5708398C>T	TOPMed,gnomAD
rs1270602557	p.Arg40Ser	missense variant	-	NC_000004.12:g.5708396G>T	TOPMed
rs1401633069	p.Pro41Ser	missense variant	-	NC_000004.12:g.5708393G>A	gnomAD
RCV000252966	p.Pro41His	missense variant	-	NC_000004.12:g.5708392G>T	ClinVar
rs544397395	p.Pro41His	missense variant	-	NC_000004.12:g.5708392G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000387924	p.Pro41His	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708392G>T	ClinVar
RCV000671513	p.Gly43Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708391_5708412dup	ClinVar
rs1405435187	p.Gly43Ser	missense variant	-	NC_000004.12:g.5708387C>T	gnomAD
rs1165473463	p.Ala44Val	missense variant	-	NC_000004.12:g.5708383G>A	TOPMed,gnomAD
RCV000666395	p.Gln45Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708381G>A	ClinVar
rs1477102573	p.Gln45Ter	stop gained	-	NC_000004.12:g.5708381G>A	gnomAD
rs1332804307	p.Pro46Thr	missense variant	-	NC_000004.12:g.5708378G>T	gnomAD
rs376923652	p.Pro47Thr	missense variant	-	NC_000004.12:g.5708375G>T	1000Genomes,TOPMed,gnomAD
rs376923652	p.Pro47Ser	missense variant	-	NC_000004.12:g.5708375G>A	1000Genomes,TOPMed,gnomAD
rs1036132954	p.Arg48Trp	missense variant	-	NC_000004.12:g.5708372G>A	TOPMed
RCV000704017	p.Asp49Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708366_5708375del	ClinVar
RCV000665329	p.Asp49Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708366_5708375del	ClinVar
rs1245195172	p.Pro50Ser	missense variant	-	NC_000004.12:g.5708366G>A	gnomAD
rs1304657923	p.Pro50Arg	missense variant	-	NC_000004.12:g.5708365G>C	TOPMed
rs1452222368	p.Ala53Gly	missense variant	-	NC_000004.12:g.5708356G>C	gnomAD
rs1380662525	p.Ala53Thr	missense variant	-	NC_000004.12:g.5708357C>T	TOPMed,gnomAD
rs756796705	p.Pro54Ser	missense variant	-	NC_000004.12:g.5708354G>A	ExAC,TOPMed,gnomAD
rs1216900408	p.Arg55Ser	missense variant	-	NC_000004.12:g.5708349C>A	gnomAD
rs1216900408	p.Arg55Ser	missense variant	-	NC_000004.12:g.5708349C>G	gnomAD
rs1241262586	p.Ser56Phe	missense variant	-	NC_000004.12:g.5708347G>A	TOPMed
rs1384345489	p.Ser56Pro	missense variant	-	NC_000004.12:g.5708348A>G	TOPMed,gnomAD
rs947670023	p.Gly59Arg	missense variant	-	NC_000004.12:g.5708339C>G	TOPMed,gnomAD
rs947670023	p.Gly59Ser	missense variant	-	NC_000004.12:g.5708339C>T	TOPMed,gnomAD
rs535274320	p.Gly59Ala	missense variant	-	NC_000004.12:g.5708338C>G	TOPMed,gnomAD
rs1489956102	p.Ile62Phe	missense variant	-	NC_000004.12:g.5708330T>A	TOPMed
rs529026861	p.Pro63Ser	missense variant	-	NC_000004.12:g.5708327G>A	gnomAD
rs1365302460	p.Pro63Leu	missense variant	-	NC_000004.12:g.5708326G>A	gnomAD
rs1292564840	p.Pro64Arg	missense variant	-	NC_000004.12:g.5708323G>C	gnomAD
RCV000671301	p.Ser67Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708314_5708323del	ClinVar
rs1173355895	p.Ser67Arg	missense variant	-	NC_000004.12:g.5708313G>T	gnomAD
RCV000672336	p.Ser67Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708319_5708323dup	ClinVar
rs1464658108	p.Gly68Arg	missense variant	-	NC_000004.12:g.5708312C>T	gnomAD
rs754380041	p.Gly70Val	missense variant	-	NC_000004.12:g.5708305C>A	ExAC,TOPMed,gnomAD
RCV000666938	p.Pro71Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708305_5708309CCCGC[4]	ClinVar
rs570345160	p.Glu72Gln	missense variant	-	NC_000004.12:g.5708300C>G	1000Genomes
RCV000658048	p.Ser74Asn	missense variant	-	NC_000004.12:g.5708293C>T	ClinVar
rs1191013607	p.Ser74Asn	missense variant	-	NC_000004.12:g.5708293C>T	TOPMed,gnomAD
rs868601826	p.Thr75Met	missense variant	-	NC_000004.12:g.5708290G>A	TOPMed
rs868601826	p.Thr75Lys	missense variant	-	NC_000004.12:g.5708290G>T	TOPMed
rs1165261008	p.Thr75Ser	missense variant	-	NC_000004.12:g.5708291T>A	TOPMed
rs976833828	p.Gln76Pro	missense variant	-	NC_000004.12:g.5708287T>G	TOPMed
rs759413537	p.Asp77Tyr	missense variant	-	NC_000004.12:g.5697647C>A	ExAC
rs776531365	p.Asp77Glu	missense variant	-	NC_000004.12:g.5697645G>T	ExAC,gnomAD
rs767889243	p.Leu78Phe	missense variant	-	NC_000004.12:g.5697642C>G	TOPMed,gnomAD
rs759834226	p.Pro79Ser	missense variant	-	NC_000004.12:g.5697641G>A	gnomAD
rs759834226	p.Pro79Thr	missense variant	-	NC_000004.12:g.5697641G>T	gnomAD
rs770636406	p.Met81Ile	missense variant	-	NC_000004.12:g.5697633C>T	ExAC,TOPMed,gnomAD
rs770636406	p.Met81Ile	missense variant	-	NC_000004.12:g.5697633C>G	ExAC,TOPMed,gnomAD
rs1267037797	p.Ile82Leu	missense variant	-	NC_000004.12:g.5697632T>G	TOPMed
COSM1328473	p.Trp83Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5697627C>A	NCI-TCGA Cosmic
rs1159933892	p.Glu87Gly	missense variant	-	NC_000004.12:g.5697616T>C	TOPMed
rs965707319	p.Cys88Ter	stop gained	-	NC_000004.12:g.5697612G>T	TOPMed,gnomAD
RCV000414626	p.Cys88Ter	nonsense	-	NC_000004.12:g.5697612G>T	ClinVar
rs777448755	p.Cys88Arg	missense variant	-	NC_000004.12:g.5697614A>G	ExAC,gnomAD
RCV000670598	p.Cys88Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5697612G>T	ClinVar
rs771545761	p.Cys89Phe	missense variant	-	NC_000004.12:g.5697610C>A	ExAC,gnomAD
rs1313805019	p.Lys92Asn	missense variant	-	NC_000004.12:g.5697600C>G	gnomAD
rs1283422559	p.Thr93Ile	missense variant	-	NC_000004.12:g.5697598G>A	gnomAD
rs1158989105	p.Thr93Pro	missense variant	-	NC_000004.12:g.5697599T>G	TOPMed
rs1350888580	p.Ala94Glu	missense variant	-	NC_000004.12:g.5697595G>T	TOPMed
rs747642992	p.Val95Met	missense variant	-	NC_000004.12:g.5697593C>T	ExAC,gnomAD
rs758657230	p.Glu96Gln	missense variant	-	NC_000004.12:g.5694499C>G	ExAC
rs1250509367	p.Ala97Thr	missense variant	-	NC_000004.12:g.5694496C>T	TOPMed
rs914857971	p.Ala97Gly	missense variant	-	NC_000004.12:g.5694495G>C	TOPMed
rs765453270	p.Pro98Gln	missense variant	-	NC_000004.12:g.5694492G>T	ExAC,gnomAD
rs886059493	p.Gly100Val	missense variant	-	NC_000004.12:g.5694486C>A	gnomAD
RCV000361841	p.Gly100Glu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5694486C>T	ClinVar
rs886059493	p.Gly100Glu	missense variant	-	NC_000004.12:g.5694486C>T	gnomAD
rs766324278	p.Met101Ile	missense variant	-	NC_000004.12:g.5694482C>T	ExAC,gnomAD
rs1210386438	p.Lys102Ile	missense variant	-	NC_000004.12:g.5694480T>A	gnomAD
rs1218402351	p.Asp104Glu	missense variant	-	NC_000004.12:g.5694473G>C	gnomAD
NCI-TCGA novel	p.Met107Ile	missense variant	-	NC_000004.12:g.5694464C>T	NCI-TCGA
rs1341583665	p.Glu108Ter	stop gained	-	NC_000004.12:g.5694463C>A	gnomAD
rs767187721	p.Glu108Gly	missense variant	-	NC_000004.12:g.5694462T>C	ExAC,TOPMed,gnomAD
rs767187721	p.Glu108Val	missense variant	-	NC_000004.12:g.5694462T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu108Lys	missense variant	-	NC_000004.12:g.5694463C>T	NCI-TCGA
rs544879562	p.Val109Ile	missense variant	-	NC_000004.12:g.5694460C>T	1000Genomes
rs150444745	p.Phe110Leu	missense variant	-	NC_000004.12:g.5694457A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile111Thr	missense variant	-	NC_000004.12:g.5694453A>G	NCI-TCGA
NCI-TCGA novel	p.Pro112Gln	missense variant	-	NC_000004.12:g.5694450G>T	NCI-TCGA
rs768224457	p.Leu113Phe	missense variant	-	NC_000004.12:g.5694448G>A	ExAC,gnomAD
rs748820015	p.Ser114Ter	stop gained	-	NC_000004.12:g.5694444G>T	ExAC,TOPMed,gnomAD
rs748820015	p.Ser114Ter	stop gained	-	NC_000004.12:g.5694444G>C	ExAC,TOPMed,gnomAD
COSM4125253	p.Thr115Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5694442T>C	NCI-TCGA Cosmic
rs372223990	p.Thr115Ile	missense variant	-	NC_000004.12:g.5694441G>A	ESP,ExAC,TOPMed,gnomAD
rs372223990	p.Thr115Ser	missense variant	-	NC_000004.12:g.5694441G>C	ESP,ExAC,TOPMed,gnomAD
rs948028147	p.Ser116Tyr	missense variant	-	NC_000004.12:g.5694438G>T	-
rs948028147	p.Ser116Tyr	missense variant	-	NC_000004.12:g.5694438G>T	NCI-TCGA
rs778239021	p.Ala118Val	missense variant	-	NC_000004.12:g.5694432G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala118Thr	missense variant	-	NC_000004.12:g.5694433C>T	NCI-TCGA
rs370417224	p.Gly121Ala	missense variant	-	NC_000004.12:g.5694423C>G	ESP,ExAC,TOPMed,gnomAD
rs748417016	p.Gly121Arg	missense variant	-	NC_000004.12:g.5694424C>G	ExAC,TOPMed,gnomAD
rs1398017880	p.Pro122Ser	missense variant	-	NC_000004.12:g.5694421G>A	TOPMed
rs1267622730	p.Trp123Arg	missense variant	-	NC_000004.12:g.5694418A>G	gnomAD
rs1214937419	p.Ala124Pro	missense variant	-	NC_000004.12:g.5694415C>G	gnomAD
rs766231079	p.His125Asn	missense variant	-	NC_000004.12:g.5694412G>T	ExAC,TOPMed,gnomAD
rs1198622747	p.His125Arg	missense variant	-	NC_000004.12:g.5694411T>C	gnomAD
NCI-TCGA novel	p.Phe130LeuPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5694395A>-	NCI-TCGA
rs1231558503	p.Ile131Thr	missense variant	-	NC_000004.12:g.5694393A>G	gnomAD
rs141576990	p.Pro132Ser	missense variant	-	NC_000004.12:g.5694391G>A	ESP,TOPMed,gnomAD
RCV000698365	p.Pro132Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5694393dup	ClinVar
rs141576990	p.Pro132Thr	missense variant	-	NC_000004.12:g.5694391G>T	ESP,TOPMed,gnomAD
rs750208130	p.Pro132Leu	missense variant	-	NC_000004.12:g.5694390G>A	ExAC,gnomAD
rs1330560682	p.Ser133Phe	missense variant	-	NC_000004.12:g.5694387G>A	gnomAD
rs761592083	p.Trp134Ter	stop gained	-	NC_000004.12:g.5694383C>T	ExAC,gnomAD
rs1377835812	p.Lys137Arg	missense variant	-	NC_000004.12:g.5694375T>C	gnomAD
NCI-TCGA novel	p.Lys137Thr	missense variant	-	NC_000004.12:g.5694375T>G	NCI-TCGA
NCI-TCGA novel	p.Leu139Val	missense variant	-	NC_000004.12:g.5694370A>C	NCI-TCGA
rs771367733	p.Phe140Ser	missense variant	-	NC_000004.12:g.5694366A>G	ExAC,gnomAD
RCV000723206	p.Phe140Ter	nonsense	-	NC_000004.12:g.5694361_5694366del	ClinVar
rs775028194	p.Phe140Leu	missense variant	-	NC_000004.12:g.5694367A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu143Ter	stop gained	-	NC_000004.12:g.5694358C>A	NCI-TCGA
COSM179269	p.Ser144Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5694354G>T	NCI-TCGA Cosmic
rs369955469	p.Pro145Arg	missense variant	-	NC_000004.12:g.5694351G>C	ESP,ExAC,TOPMed,gnomAD
rs369955469	p.Pro145His	missense variant	-	NC_000004.12:g.5694351G>T	ESP,ExAC,TOPMed,gnomAD
rs1003376249	p.Pro145Ala	missense variant	-	NC_000004.12:g.5694352G>C	TOPMed
rs779289613	p.His148Asn	missense variant	-	NC_000004.12:g.5694343G>T	ExAC,gnomAD
rs779289613	p.His148Tyr	missense variant	-	NC_000004.12:g.5694343G>A	ExAC,gnomAD
RCV000392759	p.Arg149His	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5694339C>T	ClinVar
rs148388393	p.Arg149Ser	missense variant	-	NC_000004.12:g.5694340G>T	NCI-TCGA
rs148388393	p.Arg149Cys	missense variant	-	NC_000004.12:g.5694340G>A	NCI-TCGA,NCI-TCGA Cosmic
rs202198132	p.Arg149His	missense variant	-	NC_000004.12:g.5694339C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs148388393	p.Arg149Cys	missense variant	-	NC_000004.12:g.5694340G>A	ESP,ExAC,TOPMed,gnomAD
rs148388393	p.Arg149Ser	missense variant	-	NC_000004.12:g.5694340G>T	ESP,ExAC,TOPMed,gnomAD
rs202198132	p.Arg149His	missense variant	-	NC_000004.12:g.5694339C>T	NCI-TCGA
NCI-TCGA novel	p.Arg149Leu	missense variant	-	NC_000004.12:g.5694339C>A	NCI-TCGA
rs750442688	p.Leu150Val	missense variant	-	NC_000004.12:g.5694337G>C	ExAC,gnomAD
rs757148816	p.Asp153Asn	missense variant	-	NC_000004.12:g.5691327C>T	ExAC,gnomAD
rs143388379	p.Ser155Pro	missense variant	-	NC_000004.12:g.5691321A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000757233	p.Ser155Pro	missense variant	-	NC_000004.12:g.5691321A>G	ClinVar
rs777675823	p.Val158Leu	missense variant	-	NC_000004.12:g.5691312C>G	ExAC,gnomAD
rs969898088	p.Gln159His	missense variant	-	NC_000004.12:g.5691307T>A	TOPMed
rs1487548355	p.Gly160Arg	missense variant	-	NC_000004.12:g.5691306C>G	TOPMed,gnomAD
rs1262722362	p.Gly160Val	missense variant	-	NC_000004.12:g.5691305C>A	gnomAD
rs780323237	p.Thr161Ala	missense variant	-	NC_000004.12:g.5691303T>C	NCI-TCGA
rs780323237	p.Thr161Ala	missense variant	-	NC_000004.12:g.5691303T>C	gnomAD
rs1184723847	p.Asn164Tyr	missense variant	-	NC_000004.12:g.5691294T>A	TOPMed
NCI-TCGA novel	p.Asn164His	missense variant	-	NC_000004.12:g.5691294T>G	NCI-TCGA
rs752457225	p.Ile167Val	missense variant	-	NC_000004.12:g.5691285T>C	ExAC,gnomAD
RCV000723249	p.Ile167Ter	frameshift	-	NC_000004.12:g.5691284_5691285del	ClinVar
rs764780098	p.Gln169Arg	missense variant	-	NC_000004.12:g.5691278T>C	ExAC,gnomAD
rs868434387	p.Cys171Arg	missense variant	-	NC_000004.12:g.5691273A>G	gnomAD
rs200401090	p.Cys171Tyr	missense variant	-	NC_000004.12:g.5691272C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1216554159	p.Ala172Thr	missense variant	-	NC_000004.12:g.5691270C>T	TOPMed,gnomAD
COSM5210444	p.Leu173ArgPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5691266A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu173Gln	missense variant	-	NC_000004.12:g.5691266A>T	NCI-TCGA
rs928810946	p.Gly176Glu	missense variant	-	NC_000004.12:g.5689336C>T	TOPMed
rs145758016	p.Ser177Leu	missense variant	-	NC_000004.12:g.5689333G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000384115	p.Ser177Leu	missense variant	-	NC_000004.12:g.5689333G>A	ClinVar
rs145758016	p.Ser177Leu	missense variant	-	NC_000004.12:g.5689333G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000674426	p.Glu179Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5689329dup	ClinVar
rs1339378321	p.Ala180Ser	missense variant	-	NC_000004.12:g.5689325C>A	TOPMed
NCI-TCGA novel	p.Ala180Val	missense variant	-	NC_000004.12:g.5689324G>A	NCI-TCGA
rs144692804	p.Gln181Leu	missense variant	-	NC_000004.12:g.5689321T>A	ESP,ExAC,TOPMed,gnomAD
rs144692804	p.Gln181Pro	missense variant	-	NC_000004.12:g.5689321T>G	ESP,ExAC,TOPMed,gnomAD
rs747082570	p.Thr182Ile	missense variant	-	NC_000004.12:g.5689318G>A	ExAC,gnomAD
rs747082570	p.Thr182Arg	missense variant	-	NC_000004.12:g.5689318G>C	ExAC,gnomAD
RCV000309942	p.Arg184Cys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689313G>A	ClinVar
rs771841841	p.Arg184His	missense variant	-	NC_000004.12:g.5689312C>T	ExAC,gnomAD
rs773218631	p.Arg184Cys	missense variant	-	NC_000004.12:g.5689313G>A	ExAC,TOPMed,gnomAD
RCV000756102	p.Arg184Cys	missense variant	-	NC_000004.12:g.5689313G>A	ClinVar
rs200843063	p.Ile185Val	missense variant	-	NC_000004.12:g.5689310T>C	1000Genomes,ExAC,gnomAD
rs1342830628	p.Trp186Arg	missense variant	-	NC_000004.12:g.5689307A>G	TOPMed
rs778526179	p.Leu188Val	missense variant	-	NC_000004.12:g.5689301G>C	ExAC,gnomAD
rs754798862	p.Val189Leu	missense variant	-	NC_000004.12:g.5689298C>G	ExAC,TOPMed,gnomAD
rs748989133	p.Asn190Thr	missense variant	-	NC_000004.12:g.5689294T>G	ExAC,gnomAD
RCV000754967	p.Asn191Asp	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5689292T>C	ClinVar
rs754001550	p.Asn191Thr	missense variant	-	NC_000004.12:g.5689291T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn191Ser	missense variant	-	NC_000004.12:g.5689291T>C	NCI-TCGA
rs749834951	p.Thr192Asn	missense variant	-	NC_000004.12:g.5689288G>T	ExAC,gnomAD
rs749834951	p.Thr192Ser	missense variant	-	NC_000004.12:g.5689288G>C	ExAC,gnomAD
rs1173440752	p.Thr192Ala	missense variant	-	NC_000004.12:g.5689289T>C	gnomAD
rs201960121	p.Thr195Ile	missense variant	-	NC_000004.12:g.5689279G>A	1000Genomes,ExAC,gnomAD
rs766510526	p.Ser196Leu	missense variant	-	NC_000004.12:g.5689276G>A	ExAC,gnomAD
rs753223509	p.Ser196Thr	missense variant	-	NC_000004.12:g.5689277A>T	ExAC,gnomAD
rs567458437	p.Asn199Ser	missense variant	-	NC_000004.12:g.5689267T>C	1000Genomes,ExAC,gnomAD
rs567458437	p.Asn199Ile	missense variant	-	NC_000004.12:g.5689267T>A	1000Genomes,ExAC,gnomAD
rs1211363362	p.Leu200Arg	missense variant	-	NC_000004.12:g.5689264A>C	gnomAD
RCV000532437	p.Ser201Leu	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5689261G>A	ClinVar
rs766533908	p.Ser201Leu	missense variant	-	NC_000004.12:g.5689261G>A	ExAC,TOPMed,gnomAD
rs1238785579	p.Leu203Val	missense variant	-	NC_000004.12:g.5689256G>C	gnomAD
rs1312588880	p.Asp207Gly	missense variant	-	NC_000004.12:g.5689243T>C	gnomAD
rs761707323	p.Asp207Tyr	missense variant	-	NC_000004.12:g.5689244C>A	ExAC,gnomAD
RCV000516039	p.Asp207Tyr	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5689244C>A	ClinVar
RCV000515831	p.Asp207Tyr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689244C>A	ClinVar
rs1415784175	p.Ile209Met	missense variant	-	NC_000004.12:g.5689236A>C	gnomAD
rs1377494906	p.Ala210Val	missense variant	-	NC_000004.12:g.5689234G>A	gnomAD
rs530665317	p.Leu212Val	missense variant	-	NC_000004.12:g.5689229G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1296719541	p.Leu212Pro	missense variant	-	NC_000004.12:g.5689228A>G	TOPMed
rs1345907539	p.Ile214Val	missense variant	-	NC_000004.12:g.5689223T>C	gnomAD
rs749033945	p.Ile214Met	missense variant	-	NC_000004.12:g.5689221A>C	ExAC,gnomAD
RCV000505905	p.Trp215Ter	nonsense	-	NC_000004.12:g.5689218C>T	ClinVar
rs779857359	p.Trp215Ter	stop gained	-	NC_000004.12:g.5689218C>T	ExAC,gnomAD
rs769530661	p.Asp216Asn	missense variant	-	NC_000004.12:g.5689217C>T	ExAC,gnomAD
rs1284700798	p.Ser217Cys	missense variant	-	NC_000004.12:g.5689213G>C	TOPMed
rs758420403	p.Val218Gly	missense variant	-	NC_000004.12:g.5689210A>C	gnomAD
rs745404766	p.Gly219Ter	stop gained	-	NC_000004.12:g.5689208C>A	ExAC,TOPMed,gnomAD
rs756756836	p.Asn220His	missense variant	-	NC_000004.12:g.5689205T>G	ExAC,gnomAD
rs746099524	p.Asn220Lys	missense variant	-	NC_000004.12:g.5689203G>C	TOPMed,gnomAD
rs753207027	p.Arg221Ser	missense variant	-	NC_000004.12:g.5689200C>A	ExAC,TOPMed,gnomAD
rs999964757	p.Ser223Ter	stop gained	-	NC_000004.12:g.5689195G>T	gnomAD
rs999964757	p.Ser223Leu	missense variant	-	NC_000004.12:g.5689195G>A	gnomAD
NCI-TCGA novel	p.Ser223Trp	missense variant	-	NC_000004.12:g.5689195G>C	NCI-TCGA
COSM1056229	p.Glu224Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5689191T>G	NCI-TCGA Cosmic
rs903040749	p.Gly225Arg	missense variant	-	NC_000004.12:g.5689190C>T	gnomAD
rs1276510706	p.Phe226Leu	missense variant	-	NC_000004.12:g.5689185G>C	gnomAD
rs766621900	p.Phe226Leu	missense variant	-	NC_000004.12:g.5689187A>G	ExAC,gnomAD
rs944632876	p.Gln227Arg	missense variant	-	NC_000004.12:g.5689183T>C	gnomAD
COSM5483251	p.Ala228Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5689180G>T	NCI-TCGA Cosmic
rs200743695	p.Ser230Arg	missense variant	-	NC_000004.12:g.5689173G>C	ESP,ExAC,TOPMed,gnomAD
rs4689278	p.Ser230Gly	missense variant	-	NC_000004.12:g.5689175T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200479891	p.Ser230Asn	missense variant	-	NC_000004.12:g.5689174C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000243950	p.Ser230Gly	missense variant	-	NC_000004.12:g.5689175T>C	ClinVar
RCV000294615	p.Ser230Gly	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689175T>C	ClinVar
RCV000399493	p.Lys231Arg	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689171T>C	ClinVar
COSM1056228	p.Lys231Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5689170C>A	NCI-TCGA Cosmic
rs114024753	p.Lys231Arg	missense variant	-	NC_000004.12:g.5689171T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201780057	p.Lys232Glu	missense variant	-	NC_000004.12:g.5689169T>C	1000Genomes,ExAC
rs931390799	p.Phe233Cys	missense variant	-	NC_000004.12:g.5689165A>C	TOPMed
rs1421156255	p.Gln235Lys	missense variant	-	NC_000004.12:g.5689160G>T	gnomAD
rs764307512	p.Val236Ala	missense variant	-	NC_000004.12:g.5685479A>G	ExAC,TOPMed,gnomAD
RCV000665674	p.Val236Ala	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5685479A>G	ClinVar
RCV000722919	p.Gly237Ter	frameshift	-	NC_000004.12:g.5685478del	ClinVar
rs758545762	p.Ala239Val	missense variant	-	NC_000004.12:g.5685470G>A	ExAC,TOPMed,gnomAD
rs758545762	p.Ala239Asp	missense variant	-	NC_000004.12:g.5685470G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala239Pro	missense variant	-	NC_000004.12:g.5685471C>G	NCI-TCGA
rs151231386	p.Ala241Val	missense variant	-	NC_000004.12:g.5685464G>A	ESP,TOPMed,gnomAD
rs530937415	p.Ala245Ser	missense variant	-	NC_000004.12:g.5685453C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs530937415	p.Ala245Thr	missense variant	-	NC_000004.12:g.5685453C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765973029	p.Ala246Gly	missense variant	-	NC_000004.12:g.5685449G>C	ExAC,TOPMed,gnomAD
rs200717964	p.Thr247Met	missense variant	-	NC_000004.12:g.5685446G>A	ESP,ExAC,TOPMed,gnomAD
rs771639161	p.Leu248Ile	missense variant	-	NC_000004.12:g.5685444G>T	ExAC,gnomAD
rs771639161	p.Leu248Val	missense variant	-	NC_000004.12:g.5685444G>C	ExAC,gnomAD
rs199907577	p.Gln249Arg	missense variant	-	NC_000004.12:g.5685440T>C	ExAC,gnomAD
rs1236566474	p.Gln249Ter	stop gained	-	NC_000004.12:g.5685441G>A	TOPMed,gnomAD
rs199907577	p.Gln249Pro	missense variant	-	NC_000004.12:g.5685440T>G	ExAC,gnomAD
RCV000667298	p.Gln249Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5685441G>A	ClinVar
rs1190178654	p.Ala250Val	missense variant	-	NC_000004.12:g.5685437G>A	TOPMed
rs1190178654	p.Ala250Val	missense variant	-	NC_000004.12:g.5685437G>A	NCI-TCGA Cosmic
rs770295156	p.Asp252Val	missense variant	-	NC_000004.12:g.5685431T>A	ExAC,TOPMed,gnomAD
rs781655349	p.Gly254Arg	missense variant	-	NC_000004.12:g.5685426C>T	ExAC,TOPMed,gnomAD
rs757529889	p.Gly254Glu	missense variant	-	NC_000004.12:g.5685425C>T	ExAC,gnomAD
rs139129327	p.Asn255Lys	missense variant	-	NC_000004.12:g.5685421G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145458036	p.Gly256Trp	missense variant	-	NC_000004.12:g.5685420C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145458036	p.Gly256Arg	missense variant	-	NC_000004.12:g.5685420C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000668603	p.Glu257Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5685417C>A	ClinVar
rs1553850677	p.Glu257Ter	stop gained	-	NC_000004.12:g.5685417C>A	-
NCI-TCGA novel	p.Glu257ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5685417C>-	NCI-TCGA
rs1158675173	p.Ser258Asn	missense variant	-	NC_000004.12:g.5685413C>T	gnomAD
rs1322855795	p.Lys260Thr	missense variant	-	NC_000004.12:g.5685407T>G	TOPMed
rs1186247619	p.Lys260Asn	missense variant	-	NC_000004.12:g.5685406C>A	gnomAD
rs753699064	p.Lys260Gln	missense variant	-	NC_000004.12:g.5685408T>G	ExAC,gnomAD
COSM4863167	p.Ala263Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5685399C>A	NCI-TCGA Cosmic
rs766240289	p.Ala263Thr	missense variant	-	NC_000004.12:g.5685399C>T	ExAC,TOPMed,gnomAD
rs760459672	p.Gln264Ter	stop gained	-	NC_000004.12:g.5685396G>A	ExAC,gnomAD
rs750135425	p.Thr266Ser	missense variant	-	NC_000004.12:g.5685389G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr266Asn	missense variant	-	NC_000004.12:g.5685389G>T	NCI-TCGA
rs1205810402	p.Gln268Arg	missense variant	-	NC_000004.12:g.5685383T>C	gnomAD
rs1426619132	p.Ser269Gly	missense variant	-	NC_000004.12:g.5685381T>C	gnomAD
RCV000521574	p.Ser270Leu	missense variant	-	NC_000004.12:g.5685377G>A	ClinVar
rs369153874	p.Ser270Leu	missense variant	-	NC_000004.12:g.5685377G>A	ESP,ExAC,TOPMed,gnomAD
rs369153874	p.Ser270Leu	missense variant	-	NC_000004.12:g.5685377G>A	NCI-TCGA
rs895732435	p.Arg272Gln	missense variant	-	NC_000004.12:g.5685371C>T	TOPMed
rs114142742	p.Arg272Trp	missense variant	-	NC_000004.12:g.5685372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114142742	p.Arg272Trp	missense variant	-	NC_000004.12:g.5685372G>A	NCI-TCGA
RCV000279703	p.Arg272Trp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5685372G>A	ClinVar
rs1270468417	p.Asn273Asp	missense variant	-	NC_000004.12:g.5681313T>C	gnomAD
rs767179428	p.Thr275Ser	missense variant	-	NC_000004.12:g.5681307T>A	ExAC,TOPMed,gnomAD
rs1399816848	p.Thr275Arg	missense variant	-	NC_000004.12:g.5681306G>C	TOPMed
rs761502061	p.Gln276Pro	missense variant	-	NC_000004.12:g.5681303T>G	ExAC,TOPMed,gnomAD
rs942590430	p.Lys278Gln	missense variant	-	NC_000004.12:g.5681298T>G	TOPMed
rs942590430	p.Lys278Gln	missense variant	-	NC_000004.12:g.5681298T>G	NCI-TCGA Cosmic
rs377711797	p.Val279Ala	missense variant	-	NC_000004.12:g.5681294A>G	ESP,ExAC,gnomAD
rs1395868583	p.Val279Leu	missense variant	-	NC_000004.12:g.5681295C>A	gnomAD
rs377711797	p.Val279Gly	missense variant	-	NC_000004.12:g.5681294A>C	ESP,ExAC,gnomAD
rs763725434	p.Leu280Phe	missense variant	-	NC_000004.12:g.5681292G>A	ExAC,gnomAD
rs762353411	p.Leu280Arg	missense variant	-	NC_000004.12:g.5681291A>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe281Cys	missense variant	-	NC_000004.12:g.5681288A>C	NCI-TCGA
rs1459416733	p.Ser282Ala	missense variant	-	NC_000004.12:g.5681286A>C	TOPMed
rs137852926	p.Ile283Arg	missense variant	-	NC_000004.12:g.5681282A>C	gnomAD
rs137852926	p.Ile283Arg	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5681282A>C	UniProt,dbSNP
VAR_017209	p.Ile283Arg	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5681282A>C	UniProt
RCV000003552	p.Ile283Arg	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5681282A>C	ClinVar
rs777206473	p.Ile283Val	missense variant	-	NC_000004.12:g.5681283T>C	ExAC,TOPMed,gnomAD
rs771493745	p.Thr284Ile	missense variant	-	NC_000004.12:g.5681279G>A	ExAC,TOPMed,gnomAD
RCV000400088	p.Thr284Ter	frameshift	-	NC_000004.12:g.5681281del	ClinVar
rs761148006	p.Glu286Lys	missense variant	-	NC_000004.12:g.5681274C>T	ExAC,gnomAD
rs1254886187	p.Glu286Asp	missense variant	-	NC_000004.12:g.5681272T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu287Lys	missense variant	-	NC_000004.12:g.5681271C>T	NCI-TCGA
rs560409382	p.Val289Ile	missense variant	-	NC_000004.12:g.5681265C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs560409382	p.Val289Leu	missense variant	-	NC_000004.12:g.5681265C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000519078	p.Val289Ter	frameshift	-	NC_000004.12:g.5681266dup	ClinVar
rs560409382	p.Val289Leu	missense variant	-	NC_000004.12:g.5681265C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs149414427	p.Thr290Met	missense variant	-	NC_000004.12:g.5681261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757086176	p.Val291Ile	missense variant	-	NC_000004.12:g.5665649C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu292Met	missense variant	-	NC_000004.12:g.5665646G>T	NCI-TCGA
COSM4125229	p.Pro293Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5665642G>T	NCI-TCGA Cosmic
rs138882677	p.Pro293Leu	missense variant	-	NC_000004.12:g.5665642G>A	ESP,ExAC,TOPMed,gnomAD
RCV000756099	p.Gly296Ala	missense variant	-	NC_000004.12:g.5665633C>G	ClinVar
rs201083070	p.Gly296Ala	missense variant	-	NC_000004.12:g.5665633C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200998624	p.Gly296Ser	missense variant	-	NC_000004.12:g.5665634C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201083070	p.Gly296Val	missense variant	-	NC_000004.12:g.5665633C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762245730	p.Leu297Pro	missense variant	-	NC_000004.12:g.5665630A>G	ExAC
RCV000319387	p.Leu297Val	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5665631G>C	ClinVar
rs886059492	p.Leu297Val	missense variant	-	NC_000004.12:g.5665631G>C	gnomAD
RCV000667995	p.His298Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665627del	ClinVar
rs947564024	p.Ala299Thr	missense variant	-	NC_000004.12:g.5665625C>T	TOPMed
rs947564024	p.Ala299Thr	missense variant	-	NC_000004.12:g.5665625C>T	NCI-TCGA Cosmic
rs889273419	p.Ala300Ser	missense variant	-	NC_000004.12:g.5665622C>A	TOPMed
rs142952894	p.Gly301Glu	missense variant	-	NC_000004.12:g.5665618C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs142952894	p.Gly301Ala	missense variant	-	NC_000004.12:g.5665618C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000734266	p.Phe302Ile	missense variant	-	NC_000004.12:g.5665616A>T	ClinVar
rs138728350	p.Phe302Ile	missense variant	-	NC_000004.12:g.5665616A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770732009	p.Ile304Val	missense variant	-	NC_000004.12:g.5665610T>C	ExAC,gnomAD
rs746839301	p.Ile304Thr	missense variant	-	NC_000004.12:g.5665609A>G	ExAC,gnomAD
rs150367317	p.Ala305Ser	missense variant	-	NC_000004.12:g.5665607C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000550439	p.Ala305Ser	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665607C>A	ClinVar
NCI-TCGA novel	p.Ala305Val	missense variant	-	NC_000004.12:g.5665606G>A	NCI-TCGA
rs747880765	p.Ser309Phe	missense variant	-	NC_000004.12:g.5665594G>A	ExAC,TOPMed,gnomAD
rs747880765	p.Ser309Phe	missense variant	-	NC_000004.12:g.5665594G>A	NCI-TCGA,NCI-TCGA Cosmic
rs778699083	p.Leu310Phe	missense variant	-	NC_000004.12:g.5665592G>A	ExAC,gnomAD
rs754549495	p.Leu310Pro	missense variant	-	NC_000004.12:g.5665591A>G	ExAC,gnomAD
rs781739158	p.Val311Glu	missense variant	-	NC_000004.12:g.5665588A>T	ExAC,gnomAD
rs753332650	p.Val311Leu	missense variant	-	NC_000004.12:g.5665589C>A	ExAC,TOPMed,gnomAD
rs753332650	p.Val311Leu	missense variant	-	NC_000004.12:g.5665589C>G	ExAC,TOPMed,gnomAD
rs753332650	p.Val311Met	missense variant	-	NC_000004.12:g.5665589C>T	ExAC,TOPMed,gnomAD
rs757658544	p.Thr313Ser	missense variant	-	NC_000004.12:g.5665583T>A	ExAC,gnomAD
rs148018699	p.Thr313Ser	missense variant	-	NC_000004.12:g.5665582G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148018699	p.Thr313Ile	missense variant	-	NC_000004.12:g.5665582G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000665893	p.Trp314Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665578C>T	ClinVar
rs763363403	p.Trp314Ter	stop gained	-	NC_000004.12:g.5665578C>T	ExAC,gnomAD
rs1393659365	p.Ala315Thr	missense variant	-	NC_000004.12:g.5665577C>T	gnomAD
COSM3604604	p.Ala316Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5665573G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala316Thr	missense variant	-	NC_000004.12:g.5665574C>T	NCI-TCGA
rs759639819	p.Met320Ile	missense variant	-	NC_000004.12:g.5665560C>G	ExAC,gnomAD
rs143490486	p.Met320Leu	missense variant	-	NC_000004.12:g.5665562T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Met320Val	missense variant	-	NC_000004.12:g.5665562T>C	NCI-TCGA
rs771018691	p.Arg322His	missense variant	-	NC_000004.12:g.5665555C>T	ExAC,TOPMed,gnomAD
rs539685245	p.Arg322Cys	missense variant	-	NC_000004.12:g.5665556G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg322Leu	missense variant	-	NC_000004.12:g.5665555C>A	NCI-TCGA
rs1209528522	p.Tyr323Ser	missense variant	-	NC_000004.12:g.5665552T>G	TOPMed
rs1191217065	p.Gln324Leu	missense variant	-	NC_000004.12:g.5665549T>A	gnomAD
rs1467471693	p.Cys325Arg	missense variant	-	NC_000004.12:g.5665547A>G	gnomAD
rs1252994889	p.Cys325Tyr	missense variant	-	NC_000004.12:g.5665546C>T	TOPMed,gnomAD
RCV000679983	p.Cys325Arg	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665547A>G	ClinVar
NCI-TCGA novel	p.Cys325Ter	stop gained	-	NC_000004.12:g.5665545A>T	NCI-TCGA
rs1214689391	p.Lys327Gln	missense variant	-	NC_000004.12:g.5665541T>G	TOPMed,gnomAD
rs370838180	p.Gly328Glu	missense variant	-	NC_000004.12:g.5665537C>T	ESP,ExAC,TOPMed,gnomAD
rs368314615	p.Asn329Ser	missense variant	-	NC_000004.12:g.5665534T>C	ESP,ExAC,TOPMed,gnomAD
rs1308329086	p.Met330Ile	missense variant	-	NC_000004.12:g.5665530C>T	gnomAD
rs1173884956	p.Met330Val	missense variant	-	NC_000004.12:g.5665532T>C	TOPMed
rs1299843931	p.Leu331Pro	missense variant	-	NC_000004.12:g.5665528A>G	TOPMed,gnomAD
rs991930083	p.Thr332Ser	missense variant	-	NC_000004.12:g.5665525G>C	TOPMed,gnomAD
rs771823806	p.Thr332Ala	missense variant	-	NC_000004.12:g.5665526T>C	ExAC,TOPMed,gnomAD
rs1385958586	p.Arg333Gly	missense variant	-	NC_000004.12:g.5665523T>C	TOPMed
rs1326565629	p.Arg333Ser	missense variant	-	NC_000004.12:g.5665521T>G	gnomAD
rs1314402328	p.His334Arg	missense variant	-	NC_000004.12:g.5665519T>C	gnomAD
rs1388262646	p.His334Tyr	missense variant	-	NC_000004.12:g.5665520G>A	TOPMed,gnomAD
rs778713498	p.Arg335Pro	missense variant	-	NC_000004.12:g.5665516C>G	ExAC,TOPMed,gnomAD
rs148884226	p.Arg335Trp	missense variant	-	NC_000004.12:g.5665517G>A	ESP,ExAC,TOPMed,gnomAD
rs778713498	p.Arg335Gln	missense variant	-	NC_000004.12:g.5665516C>T	ExAC,TOPMed,gnomAD
COSM4125227	p.Val336Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663245A>C	NCI-TCGA Cosmic
rs761732269	p.Val336Ile	missense variant	-	NC_000004.12:g.5663246C>T	NCI-TCGA
rs761732269	p.Val336Phe	missense variant	-	NC_000004.12:g.5663246C>A	ExAC,gnomAD
rs761732269	p.Val336Ile	missense variant	-	NC_000004.12:g.5663246C>T	ExAC,gnomAD
COSM6167377	p.Trp337Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663241C>A	NCI-TCGA Cosmic
rs201555920	p.Trp337Arg	missense variant	-	NC_000004.12:g.5663243A>T	ESP,ExAC,TOPMed,gnomAD
rs1279351106	p.Gln338Arg	missense variant	-	NC_000004.12:g.5663239T>C	gnomAD
rs1374307893	p.Tyr339Ter	stop gained	-	NC_000004.12:g.5663235A>T	TOPMed
rs749013822	p.Ser341Asn	missense variant	-	NC_000004.12:g.5663230C>T	ExAC,TOPMed,gnomAD
rs767072839	p.Lys342Ter	stop gained	-	NC_000004.12:g.5663228T>A	TOPMed,gnomAD
RCV000665096	p.Lys342Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5663228T>A	ClinVar
rs775193560	p.Lys342Arg	missense variant	-	NC_000004.12:g.5663227T>C	ExAC,gnomAD
rs767072839	p.Lys342Glu	missense variant	-	NC_000004.12:g.5663228T>C	TOPMed,gnomAD
rs145551263	p.Pro345Leu	missense variant	-	NC_000004.12:g.5663218G>A	ESP,ExAC,TOPMed,gnomAD
rs199708349	p.Pro347Leu	missense variant	-	NC_000004.12:g.5663212G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199708349	p.Pro347Gln	missense variant	-	NC_000004.12:g.5663212G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376988870	p.Thr349Ile	missense variant	-	NC_000004.12:g.5663206G>A	TOPMed,gnomAD
rs369748879	p.Ser350Leu	missense variant	-	NC_000004.12:g.5663203G>A	ESP,ExAC,gnomAD
rs758849076	p.Ser350Thr	missense variant	-	NC_000004.12:g.5663204A>T	ExAC,gnomAD
rs779286784	p.Asp352His	missense variant	-	NC_000004.12:g.5663198C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp352Asn	missense variant	-	NC_000004.12:g.5663198C>T	NCI-TCGA
NCI-TCGA novel	p.Gly353Cys	missense variant	-	NC_000004.12:g.5663195C>A	NCI-TCGA
rs1208770117	p.Val354Ala	missense variant	-	NC_000004.12:g.5663191A>G	TOPMed,gnomAD
rs766569633	p.Val354Met	missense variant	-	NC_000004.12:g.5663192C>T	ExAC,TOPMed,gnomAD
rs766569633	p.Val354Met	missense variant	-	NC_000004.12:g.5663192C>T	NCI-TCGA,NCI-TCGA Cosmic
rs750476718	p.Asn355Ser	missense variant	-	NC_000004.12:g.5663188T>C	ExAC,gnomAD
COSM6100250	p.Glu356Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663184C>G	NCI-TCGA Cosmic
rs376321782	p.Asp357Asn	missense variant	-	NC_000004.12:g.5663183C>T	ESP,ExAC,TOPMed,gnomAD
rs376321782	p.Asp357Tyr	missense variant	-	NC_000004.12:g.5663183C>A	ESP,ExAC,TOPMed,gnomAD
rs774401542	p.Leu360His	missense variant	-	NC_000004.12:g.5663173A>T	ExAC,TOPMed,gnomAD
rs372899006	p.Leu360Phe	missense variant	-	NC_000004.12:g.5663174G>A	ESP,ExAC,gnomAD
rs774401542	p.Leu360Arg	missense variant	-	NC_000004.12:g.5663173A>C	ExAC,TOPMed,gnomAD
rs764037503	p.Asn361Ser	missense variant	-	NC_000004.12:g.5663170T>C	ExAC,TOPMed,gnomAD
rs775010153	p.Asp362Asn	missense variant	-	NC_000004.12:g.5663168C>T	ExAC,gnomAD
rs1331174544	p.Gln363Glu	missense variant	-	NC_000004.12:g.5663165G>C	gnomAD
rs769447796	p.Met364Ile	missense variant	-	NC_000004.12:g.5663160C>T	ExAC,TOPMed,gnomAD
rs887880432	p.Ile365Val	missense variant	-	NC_000004.12:g.5663159T>C	TOPMed
rs745388254	p.Ile367Leu	missense variant	-	NC_000004.12:g.5663153T>G	ExAC,gnomAD
rs1048304872	p.Ile367Asn	missense variant	-	NC_000004.12:g.5663152A>T	TOPMed
rs770394456	p.Ser370Phe	missense variant	-	NC_000004.12:g.5663143G>A	ExAC,TOPMed,gnomAD
rs929810328	p.Glu371Lys	missense variant	-	NC_000004.12:g.5663141C>T	TOPMed
RCV000507763	p.Glu371Ter	frameshift	-	NC_000004.12:g.5663143del	ClinVar
rs755352456	p.Asp372His	missense variant	-	NC_000004.12:g.5663138C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp372Tyr	missense variant	-	NC_000004.12:g.5663138C>A	NCI-TCGA
rs369357769	p.Pro373Ala	missense variant	-	NC_000004.12:g.5663135G>C	ESP,ExAC,TOPMed,gnomAD
rs369357769	p.Pro373Ser	missense variant	-	NC_000004.12:g.5663135G>A	NCI-TCGA
rs369357769	p.Pro373Ser	missense variant	-	NC_000004.12:g.5663135G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly374Arg	missense variant	-	NC_000004.12:g.5663132C>T	NCI-TCGA
COSM1567298	p.Ser375Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663128C>G	NCI-TCGA Cosmic
rs1009838703	p.Ser375Asn	missense variant	-	NC_000004.12:g.5663128C>T	TOPMed
rs184703595	p.Gln378Glu	missense variant	-	NC_000004.12:g.5663120G>C	1000Genomes
NCI-TCGA novel	p.Gln378Pro	missense variant	-	NC_000004.12:g.5663119T>G	NCI-TCGA
NCI-TCGA novel	p.Ala379Val	missense variant	-	NC_000004.12:g.5663116G>A	NCI-TCGA
rs1414769340	p.Leu380Ser	missense variant	-	NC_000004.12:g.5663113A>G	gnomAD
rs147667929	p.Ile385Val	missense variant	-	NC_000004.12:g.5640831T>C	ESP,ExAC,TOPMed,gnomAD
rs147667929	p.Ile385Phe	missense variant	-	NC_000004.12:g.5640831T>A	ESP,ExAC,TOPMed,gnomAD
RCV000377763	p.Ile385Thr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640830A>G	ClinVar
rs780517206	p.Ile385Thr	missense variant	-	NC_000004.12:g.5640830A>G	ExAC,gnomAD
rs770026240	p.Ala386Pro	missense variant	-	NC_000004.12:g.5640828C>G	ExAC,TOPMed,gnomAD
rs1206648663	p.Thr387Ala	missense variant	-	NC_000004.12:g.5640825T>C	gnomAD
rs199826018	p.Arg390Trp	missense variant	-	NC_000004.12:g.5640816G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs367655073	p.Arg390Gln	missense variant	-	NC_000004.12:g.5640815C>T	1000Genomes,ESP,ExAC,gnomAD
RCV000594247	p.Arg390Gln	missense variant	-	NC_000004.12:g.5640815C>T	ClinVar
RCV000665250	p.Ala391Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640813_5640814delinsG	ClinVar
rs1368934888	p.Ala391Gly	missense variant	-	NC_000004.12:g.5640812G>C	gnomAD
rs1368934888	p.Ala391Val	missense variant	-	NC_000004.12:g.5640812G>A	gnomAD
rs757414709	p.Ala391Ser	missense variant	-	NC_000004.12:g.5640813C>A	ExAC,gnomAD
rs751649406	p.Asp392Gly	missense variant	-	NC_000004.12:g.5640809T>C	ExAC,TOPMed,gnomAD
rs751649406	p.Asp392Ala	missense variant	-	NC_000004.12:g.5640809T>G	ExAC,TOPMed,gnomAD
rs1350092724	p.Asp394His	missense variant	-	NC_000004.12:g.5640804C>G	gnomAD
COSM1430304	p.Asp394Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640804C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp394Asn	missense variant	-	NC_000004.12:g.5640804C>T	NCI-TCGA
rs777874498	p.Leu395Gln	missense variant	-	NC_000004.12:g.5640800A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu395Met	missense variant	-	NC_000004.12:g.5640801G>T	NCI-TCGA
rs1291914946	p.Glu396Val	missense variant	-	NC_000004.12:g.5640797T>A	TOPMed
rs1431675407	p.Ala397Asp	missense variant	-	NC_000004.12:g.5640794G>T	TOPMed,gnomAD
rs1173102415	p.Cys398Arg	missense variant	-	NC_000004.12:g.5640792A>G	NCI-TCGA
rs1173102415	p.Cys398Arg	missense variant	-	NC_000004.12:g.5640792A>G	gnomAD
RCV000578498	p.Arg399Ter	nonsense	-	NC_000004.12:g.5640789G>A	ClinVar
rs866938723	p.Arg399Gln	missense variant	-	NC_000004.12:g.5640788C>T	NCI-TCGA Cosmic
RCV000003550	p.Arg399Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640789G>A	ClinVar
RCV000763528	p.Arg399Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640789G>A	ClinVar
rs866938723	p.Arg399Gln	missense variant	-	NC_000004.12:g.5640788C>T	TOPMed,gnomAD
rs137852924	p.Arg399Ter	stop gained	-	NC_000004.12:g.5640789G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs137852924	p.Arg399Ter	stop gained	-	NC_000004.12:g.5640789G>A	NCI-TCGA
RCV000515899	p.Arg399Ter	nonsense	Ellis-van Creveld Syndrome	NC_000004.12:g.5640789G>A	ClinVar
RCV000516144	p.Arg399Ter	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5640789G>A	ClinVar
RCV000323023	p.Thr400Ala	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640786T>C	ClinVar
rs765142983	p.Thr400Ile	missense variant	-	NC_000004.12:g.5640785G>A	ExAC,gnomAD
rs138972736	p.Thr400Ala	missense variant	-	NC_000004.12:g.5640786T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1227562994	p.Gln401Pro	missense variant	-	NC_000004.12:g.5640782T>G	TOPMed
COSM3760665	p.Gln401Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640783G>T	NCI-TCGA Cosmic
rs1252048610	p.Gln401Glu	missense variant	-	NC_000004.12:g.5640783G>C	gnomAD
rs759236487	p.Ile402Leu	missense variant	-	NC_000004.12:g.5640780T>G	ExAC,gnomAD
rs772660326	p.Ser403Arg	missense variant	-	NC_000004.12:g.5640775G>T	ExAC,gnomAD
rs753504773	p.Ser403Gly	missense variant	-	NC_000004.12:g.5640777T>C	ExAC,gnomAD
rs202093384	p.Ser403Asn	missense variant	-	NC_000004.12:g.5640776C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1242116459	p.Lys404Met	missense variant	-	NC_000004.12:g.5640773T>A	gnomAD
rs375543647	p.Asp405Val	missense variant	-	NC_000004.12:g.5640770T>A	ESP,ExAC,TOPMed,gnomAD
rs775859006	p.Asp405Glu	missense variant	-	NC_000004.12:g.5640769A>T	ExAC,gnomAD
rs1281421898	p.Asp405Tyr	missense variant	-	NC_000004.12:g.5640771C>A	gnomAD
rs375543647	p.Asp405Gly	missense variant	-	NC_000004.12:g.5640770T>C	ESP,ExAC,TOPMed,gnomAD
rs1264397511	p.Ile407Leu	missense variant	-	NC_000004.12:g.5640765T>G	TOPMed
rs1480693419	p.Ile407Thr	missense variant	-	NC_000004.12:g.5640764A>G	TOPMed
rs1264397511	p.Ile407Leu	missense variant	-	NC_000004.12:g.5640765T>G	NCI-TCGA
rs746167767	p.Ala408Val	missense variant	-	NC_000004.12:g.5640761G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu409Arg	missense variant	-	NC_000004.12:g.5640758A>C	NCI-TCGA
rs771229648	p.Thr415Ile	missense variant	-	NC_000004.12:g.5640740G>A	ExAC,gnomAD
rs1456668736	p.Ser416Arg	missense variant	-	NC_000004.12:g.5640736G>T	gnomAD
rs778036688	p.Ser417Arg	missense variant	-	NC_000004.12:g.5640735T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser417Ile	missense variant	-	NC_000004.12:g.5640734C>A	NCI-TCGA
NCI-TCGA novel	p.Ser417Cys	missense variant	-	NC_000004.12:g.5640735T>A	NCI-TCGA
rs1161122176	p.Gly418Asp	missense variant	-	NC_000004.12:g.5640731C>T	gnomAD
rs1473983901	p.His419Arg	missense variant	-	NC_000004.12:g.5640728T>C	gnomAD
rs758401132	p.Leu420Pro	missense variant	-	NC_000004.12:g.5640725A>G	ExAC,TOPMed,gnomAD
rs754809515	p.Ser421Leu	missense variant	-	NC_000004.12:g.5640722G>A	ExAC,gnomAD
rs142318910	p.Ser421Thr	missense variant	-	NC_000004.12:g.5640723A>T	ESP,TOPMed
rs1258808045	p.Gln423Lys	missense variant	-	NC_000004.12:g.5640717G>T	TOPMed
rs1214227728	p.Val424Ala	missense variant	-	NC_000004.12:g.5640713A>G	gnomAD
rs1239696128	p.Val424Leu	missense variant	-	NC_000004.12:g.5640714C>G	gnomAD
rs766046354	p.Glu425Asp	missense variant	-	NC_000004.12:g.5640709C>A	ExAC,TOPMed,gnomAD
rs1367924126	p.Arg426Gly	missense variant	-	NC_000004.12:g.5640708T>C	TOPMed
rs760369547	p.Met428Ile	missense variant	-	NC_000004.12:g.5640700C>T	ExAC,gnomAD
COSM4923978	p.Met428Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640700C>A	NCI-TCGA Cosmic
rs1269089835	p.Met428Leu	missense variant	-	NC_000004.12:g.5640702T>G	gnomAD
rs559999180	p.Ala430Thr	missense variant	-	NC_000004.12:g.5640696C>T	1000Genomes,ExAC,gnomAD
rs1228931835	p.Ala430Gly	missense variant	-	NC_000004.12:g.5640695G>C	gnomAD
rs1170648594	p.Val431Ile	missense variant	-	NC_000004.12:g.5640693C>T	TOPMed
RCV000534572	p.Phe432Ser	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640689A>G	ClinVar
rs1381375453	p.Phe432Ser	missense variant	-	NC_000004.12:g.5640689A>G	gnomAD
rs542926578	p.Lys434Asn	missense variant	-	NC_000004.12:g.5640682C>G	1000Genomes,ExAC
rs761217018	p.Lys434Arg	missense variant	-	NC_000004.12:g.5640683T>C	ExAC,gnomAD
rs542926578	p.Lys434Asn	missense variant	-	NC_000004.12:g.5640682C>A	1000Genomes,ExAC
rs1369020144	p.Gln435Ter	stop gained	-	NC_000004.12:g.5640681G>A	TOPMed
NCI-TCGA novel	p.Gln435AlaPheSerTerUnk	frameshift	-	NC_000004.12:g.5640682_5640683insT	NCI-TCGA
rs1434202396	p.Leu437Ile	missense variant	-	NC_000004.12:g.5640675G>T	gnomAD
rs1027714239	p.Glu440Val	missense variant	-	NC_000004.12:g.5640665T>A	TOPMed
rs1459733035	p.Ile443Thr	missense variant	-	NC_000004.12:g.5640656A>G	gnomAD
rs777183697	p.Ile443Val	missense variant	-	NC_000004.12:g.5640657T>C	ExAC,TOPMed,gnomAD
rs372215987	p.Gln444Glu	missense variant	-	NC_000004.12:g.5640654G>C	ESP,ExAC,TOPMed,gnomAD
rs372215987	p.Gln444Ter	stop gained	-	NC_000004.12:g.5640654G>A	ESP,ExAC,TOPMed,gnomAD
rs1425223751	p.Glu445Gly	missense variant	-	NC_000004.12:g.5640650T>C	gnomAD
rs1416713596	p.Glu446Lys	missense variant	-	NC_000004.12:g.5640648C>T	gnomAD
rs1416713596	p.Glu446Lys	missense variant	-	NC_000004.12:g.5640648C>T	NCI-TCGA
rs748111872	p.Asp448Asn	missense variant	-	NC_000004.12:g.5640642C>T	ExAC,TOPMed,gnomAD
rs748111872	p.Asp448Tyr	missense variant	-	NC_000004.12:g.5640642C>A	ExAC,TOPMed,gnomAD
rs774976776	p.Arg449Gln	missense variant	-	NC_000004.12:g.5640638C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774976776	p.Arg449Gln	missense variant	-	NC_000004.12:g.5640638C>T	ExAC,TOPMed,gnomAD
rs778943940	p.Arg449Trp	missense variant	-	NC_000004.12:g.5640639G>A	ExAC,TOPMed,gnomAD
rs778943940	p.Arg449Trp	missense variant	-	NC_000004.12:g.5640639G>A	NCI-TCGA
RCV000327838	p.Arg449Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640638C>T	ClinVar
rs749205674	p.Lys450Asn	missense variant	-	NC_000004.12:g.5640634C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys450Met	missense variant	-	NC_000004.12:g.5640635T>A	NCI-TCGA
rs755900355	p.Met451Ile	missense variant	-	NC_000004.12:g.5640631C>G	ExAC,TOPMed,gnomAD
rs755900355	p.Met451Ile	missense variant	-	NC_000004.12:g.5640631C>T	ExAC,TOPMed,gnomAD
rs779865273	p.Met451Val	missense variant	-	NC_000004.12:g.5640633T>C	ExAC,TOPMed,gnomAD
rs750135433	p.Ala453Ser	missense variant	-	NC_000004.12:g.5640627C>A	ExAC,gnomAD
rs141287105	p.Thr455Arg	missense variant	-	NC_000004.12:g.5640620G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000173922	p.Thr455Arg	missense variant	-	NC_000004.12:g.5640620G>C	ClinVar
rs368371226	p.Glu457Asp	missense variant	-	NC_000004.12:g.5640613T>G	ESP,ExAC,TOPMed,gnomAD
rs756822099	p.Glu457Val	missense variant	-	NC_000004.12:g.5640614T>A	ExAC,TOPMed,gnomAD
RCV000367450	p.Glu457Asp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640613T>G	ClinVar
rs1263538554	p.Leu460Arg	missense variant	-	NC_000004.12:g.5640605A>C	TOPMed,gnomAD
rs73063795	p.Thr462Ala	missense variant	-	NC_000004.12:g.5640600T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000312824	p.Thr462Ala	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640600T>C	ClinVar
COSM3825998	p.Arg463Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640596C>G	NCI-TCGA Cosmic
RCV000670534	p.Arg463Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640597_5640598del	ClinVar
rs1352465948	p.Lys464Glu	missense variant	-	NC_000004.12:g.5640594T>C	gnomAD
rs1167397787	p.Met466Thr	missense variant	-	NC_000004.12:g.5640587A>G	gnomAD
rs760156145	p.Met466Ile	missense variant	-	NC_000004.12:g.5640586C>T	ExAC,TOPMed,gnomAD
rs1440497100	p.Met466Val	missense variant	-	NC_000004.12:g.5640588T>C	gnomAD
COSM1056177	p.Glu467Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640583T>G	NCI-TCGA Cosmic
rs377461598	p.Glu467Lys	missense variant	-	NC_000004.12:g.5640585C>T	ExAC,TOPMed,gnomAD
rs377461598	p.Glu467Lys	missense variant	-	NC_000004.12:g.5640585C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1191015453	p.Asn468Asp	missense variant	-	NC_000004.12:g.5640582T>C	gnomAD
rs890717512	p.Tyr470His	missense variant	-	NC_000004.12:g.5640576A>G	gnomAD
rs766904434	p.Gln471Arg	missense variant	-	NC_000004.12:g.5640572T>C	ExAC,gnomAD
COSM6167381	p.Gln471His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640571C>G	NCI-TCGA Cosmic
rs761060101	p.Arg472Lys	missense variant	-	NC_000004.12:g.5640569C>T	ExAC,gnomAD
COSM6167383	p.Arg472Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5640570T>A	NCI-TCGA Cosmic
rs772148420	p.Glu473Gly	missense variant	-	NC_000004.12:g.5640566T>C	ExAC,gnomAD
rs774347118	p.Ala476Val	missense variant	-	NC_000004.12:g.5640557G>A	ExAC,TOPMed,gnomAD
rs748284636	p.Ala476Thr	missense variant	-	NC_000004.12:g.5640558C>T	ExAC,TOPMed,gnomAD
rs1276196151	p.Met477Leu	missense variant	-	NC_000004.12:g.5640555T>A	TOPMed,gnomAD
rs977107554	p.Met477Ile	missense variant	-	NC_000004.12:g.5640553C>T	TOPMed,gnomAD
rs1276196151	p.Met477Val	missense variant	-	NC_000004.12:g.5640555T>C	TOPMed,gnomAD
rs768691227	p.Glu478Lys	missense variant	-	NC_000004.12:g.5640552C>T	ExAC,gnomAD
rs1208549875	p.Glu479Lys	missense variant	-	NC_000004.12:g.5640549C>T	TOPMed
COSM4125219	p.Ala480Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640545G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala480Thr	missense variant	-	NC_000004.12:g.5640546C>T	NCI-TCGA
rs1388356227	p.Glu481Lys	missense variant	-	NC_000004.12:g.5640543C>T	gnomAD
rs200984738	p.Glu481Gly	missense variant	-	NC_000004.12:g.5640542T>C	1000Genomes,gnomAD
NCI-TCGA novel	p.Glu482Ter	stop gained	-	NC_000004.12:g.5640540C>A	NCI-TCGA
rs755918811	p.Leu483Phe	missense variant	-	NC_000004.12:g.5640535C>G	ExAC,gnomAD
rs780919705	p.Arg486Cys	missense variant	-	NC_000004.12:g.5640528G>A	NCI-TCGA
rs150329661	p.Arg486His	missense variant	-	NC_000004.12:g.5640527C>T	ESP,ExAC,TOPMed,gnomAD
rs780919705	p.Arg486Cys	missense variant	-	NC_000004.12:g.5640528G>A	ExAC,TOPMed,gnomAD
rs751192258	p.Ala487Thr	missense variant	-	NC_000004.12:g.5640525C>T	ExAC,gnomAD
RCV000391787	p.Gly488Ser	missense variant	-	NC_000004.12:g.5640522C>T	ClinVar
rs145277501	p.Gly488Ser	missense variant	-	NC_000004.12:g.5640522C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1444216093	p.Ser491Phe	missense variant	-	NC_000004.12:g.5632031G>A	TOPMed
rs1444216093	p.Ser491Cys	missense variant	-	NC_000004.12:g.5632031G>C	TOPMed
COSM1430280	p.Ala492Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5632028G>A	NCI-TCGA Cosmic
rs751744985	p.Val493Ile	missense variant	-	NC_000004.12:g.5632026C>T	ExAC,TOPMed,gnomAD
rs751744985	p.Val493Leu	missense variant	-	NC_000004.12:g.5632026C>G	ExAC,TOPMed,gnomAD
rs202210260	p.Val493Ala	missense variant	-	NC_000004.12:g.5632025A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763041096	p.Glu494Gln	missense variant	-	NC_000004.12:g.5632023C>G	ExAC,gnomAD
rs763041096	p.Glu494Gln	missense variant	-	NC_000004.12:g.5632023C>G	NCI-TCGA,NCI-TCGA Cosmic
rs775594374	p.Ser496Gly	missense variant	-	NC_000004.12:g.5632017T>C	ExAC,TOPMed,gnomAD
rs1369073088	p.Ser496Asn	missense variant	-	NC_000004.12:g.5632016C>T	TOPMed,gnomAD
rs148248777	p.Arg500Trp	missense variant	-	NC_000004.12:g.5632005G>A	NCI-TCGA,NCI-TCGA Cosmic
rs770644264	p.Arg500Gln	missense variant	-	NC_000004.12:g.5632004C>T	ExAC,TOPMed,gnomAD
rs148248777	p.Arg500Trp	missense variant	-	NC_000004.12:g.5632005G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000392727	p.Arg500Gln	missense variant	-	NC_000004.12:g.5632004C>T	ClinVar
rs1209098952	p.Thr501Ile	missense variant	-	NC_000004.12:g.5632001G>A	TOPMed,gnomAD
rs145909403	p.Leu502His	missense variant	-	NC_000004.12:g.5631998A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145909403	p.Leu502Arg	missense variant	-	NC_000004.12:g.5631998A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1208821826	p.His503Arg	missense variant	-	NC_000004.12:g.5631995T>C	gnomAD
rs1354561351	p.His503Tyr	missense variant	-	NC_000004.12:g.5631996G>A	gnomAD
rs747782390	p.Gly504Ser	missense variant	-	NC_000004.12:g.5631993C>T	ExAC,gnomAD
rs1225635390	p.Glu506Lys	missense variant	-	NC_000004.12:g.5631987C>T	TOPMed,gnomAD
rs1297560481	p.Gln507His	missense variant	-	NC_000004.12:g.5631982C>G	TOPMed,gnomAD
COSM6167386	p.Gln507His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631982C>A	NCI-TCGA Cosmic
rs146333154	p.Gln507Pro	missense variant	-	NC_000004.12:g.5631983T>G	1000Genomes,ExAC,gnomAD
rs1391224065	p.Glu508Gly	missense variant	-	NC_000004.12:g.5631980T>C	TOPMed,gnomAD
rs1436502582	p.Glu508Lys	missense variant	-	NC_000004.12:g.5631981C>T	gnomAD
rs754507157	p.His509Gln	missense variant	-	NC_000004.12:g.5631976G>C	ExAC,TOPMed,gnomAD
rs1321999073	p.His509Asp	missense variant	-	NC_000004.12:g.5631978G>C	gnomAD
rs1391810700	p.Leu510Val	missense variant	-	NC_000004.12:g.5631975A>C	gnomAD
NCI-TCGA novel	p.Leu510Phe	missense variant	-	NC_000004.12:g.5631973C>A	NCI-TCGA
NCI-TCGA novel	p.Leu510Met	missense variant	-	NC_000004.12:g.5631975A>T	NCI-TCGA
rs1447785456	p.Arg511Thr	missense variant	-	NC_000004.12:g.5631971C>G	gnomAD
COSM3428558	p.Ser513Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631965G>T	NCI-TCGA Cosmic
rs781684494	p.Ser513Ala	missense variant	-	NC_000004.12:g.5631966A>C	ExAC,gnomAD
rs757570584	p.Leu514Phe	missense variant	-	NC_000004.12:g.5631963G>A	ExAC,TOPMed,gnomAD
rs764417189	p.Ala515Thr	missense variant	-	NC_000004.12:g.5631960C>T	ExAC,TOPMed
rs764417189	p.Ala515Thr	missense variant	-	NC_000004.12:g.5631960C>T	NCI-TCGA
rs575723160	p.Leu516Met	missense variant	-	NC_000004.12:g.5631957A>T	1000Genomes
rs752907581	p.Gln518Ter	stop gained	-	NC_000004.12:g.5631951G>A	ExAC,gnomAD
COSM4844454	p.Glu519Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631948C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu519Val	missense variant	-	NC_000004.12:g.5631947T>A	NCI-TCGA
COSM3604591	p.Glu520Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631945C>T	NCI-TCGA Cosmic
COSM1430279	p.Asp521Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631942C>A	NCI-TCGA Cosmic
rs200622704	p.Ala523Ser	missense variant	-	NC_000004.12:g.5631936C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372812834	p.Ala525Val	missense variant	-	NC_000004.12:g.5631929G>A	ESP,ExAC,TOPMed,gnomAD
rs766297845	p.His526Pro	missense variant	-	NC_000004.12:g.5631926T>G	ExAC,gnomAD
rs369076839	p.Gln528Arg	missense variant	-	NC_000004.12:g.5631920T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1229711187	p.Gln528Ter	stop gained	-	NC_000004.12:g.5631921G>A	gnomAD
RCV000408174	p.Gln528Arg	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5631920T>C	ClinVar
rs576473117	p.Ala530Thr	missense variant	-	NC_000004.12:g.5631915C>T	1000Genomes,ExAC,gnomAD
rs1329925495	p.Ala530Val	missense variant	-	NC_000004.12:g.5631914G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala530Ser	missense variant	-	NC_000004.12:g.5631915C>A	NCI-TCGA
NCI-TCGA novel	p.Val531SerPheSerTerUnk	stop gained	-	NC_000004.12:g.5631913_5631914insTTTAGATAACAGGGGAG	NCI-TCGA
rs1331875628	p.Phe532Ser	missense variant	-	NC_000004.12:g.5631908A>G	gnomAD
rs1319781973	p.Phe532Leu	missense variant	-	NC_000004.12:g.5631907G>T	TOPMed
COSM4914376	p.Arg534Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631902C>T	NCI-TCGA Cosmic
rs1284395468	p.Glu536Lys	missense variant	-	NC_000004.12:g.5631897C>T	TOPMed
rs1428100164	p.Leu537Arg	missense variant	-	NC_000004.12:g.5631893A>C	TOPMed,gnomAD
rs771963435	p.His538Asp	missense variant	-	NC_000004.12:g.5631891G>C	ExAC,TOPMed,gnomAD
rs747876686	p.Ser539Ile	missense variant	-	NC_000004.12:g.5631887C>A	ExAC,gnomAD
rs1431483449	p.Ser539Gly	missense variant	-	NC_000004.12:g.5631888T>C	gnomAD
rs774137577	p.Ile540Thr	missense variant	-	NC_000004.12:g.5631884A>G	ExAC,TOPMed,gnomAD
rs768068789	p.Ile540Met	missense variant	-	NC_000004.12:g.5631883G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile540Val	missense variant	-	NC_000004.12:g.5631885T>C	NCI-TCGA
rs748768843	p.Thr543Ile	missense variant	-	NC_000004.12:g.5631875G>A	ExAC,gnomAD
rs757828951	p.Gln544Pro	missense variant	-	NC_000004.12:g.5631872T>G	ExAC,gnomAD
rs374645597	p.Ile545Thr	missense variant	-	NC_000004.12:g.5631869A>G	ESP,ExAC,TOPMed,gnomAD
rs1206763206	p.Ile545Val	missense variant	-	NC_000004.12:g.5631870T>C	gnomAD
NCI-TCGA novel	p.Ile545Leu	missense variant	-	NC_000004.12:g.5631870T>G	NCI-TCGA
rs778083211	p.Lys546Thr	missense variant	-	NC_000004.12:g.5631866T>G	ExAC,TOPMed,gnomAD
rs758744646	p.Ala548Val	missense variant	-	NC_000004.12:g.5631860G>A	ExAC,gnomAD
rs752929789	p.Ile549Val	missense variant	-	NC_000004.12:g.5631858T>C	ExAC,TOPMed,gnomAD
rs1481256761	p.Phe550Ser	missense variant	-	NC_000004.12:g.5631854A>G	TOPMed
rs372255247	p.Gly552Arg	missense variant	-	NC_000004.12:g.5631849C>G	ESP,ExAC,TOPMed,gnomAD
RCV000667301	p.Gly552Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5631845_5631848del	ClinVar
rs766349604	p.Glu553Gly	missense variant	-	NC_000004.12:g.5631845T>C	ExAC,TOPMed,gnomAD
RCV000520119	p.Glu553Gly	missense variant	-	NC_000004.12:g.5631845T>C	ClinVar
NCI-TCGA novel	p.Glu553Lys	missense variant	-	NC_000004.12:g.5631846C>T	NCI-TCGA
rs760736393	p.Leu554Ser	missense variant	-	NC_000004.12:g.5631842A>G	ExAC,TOPMed,gnomAD
rs1175217525	p.Lys555Asn	missense variant	-	NC_000004.12:g.5631838T>A	gnomAD
rs886059491	p.Pro556Ser	missense variant	-	NC_000004.12:g.5631837G>A	-
rs369986020	p.Pro556Leu	missense variant	-	NC_000004.12:g.5631836G>A	ESP,ExAC,gnomAD
RCV000336863	p.Pro556Ser	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5631837G>A	ClinVar
rs1011896386	p.Glu557Gly	missense variant	-	NC_000004.12:g.5631833T>C	gnomAD
rs1472057052	p.Ala558Val	missense variant	-	NC_000004.12:g.5631830G>A	gnomAD
rs767478570	p.Ala559Thr	missense variant	-	NC_000004.12:g.5631828C>T	ExAC,TOPMed,gnomAD
rs1482011754	p.Met561Ile	missense variant	-	NC_000004.12:g.5631820C>G	gnomAD
rs1407087956	p.Met561Lys	missense variant	-	NC_000004.12:g.5631821A>T	TOPMed
NCI-TCGA novel	p.Met561AsnPheSerTerUnk	frameshift	-	NC_000004.12:g.5631821_5631822insT	NCI-TCGA
rs774155629	p.Leu563Arg	missense variant	-	NC_000004.12:g.5631815A>C	ExAC,gnomAD
rs748867934	p.Asn565Tyr	missense variant	-	NC_000004.12:g.5631810T>A	ExAC,TOPMed,gnomAD
rs748867934	p.Asn565His	missense variant	-	NC_000004.12:g.5631810T>G	ExAC,TOPMed,gnomAD
rs775103557	p.Ser567Phe	missense variant	-	NC_000004.12:g.5631803G>A	ExAC,gnomAD
rs769178878	p.Lys568Glu	missense variant	-	NC_000004.12:g.5631801T>C	ExAC,gnomAD
rs999269646	p.Ile569Met	missense variant	-	NC_000004.12:g.5631796T>C	gnomAD
RCV000516037	p.Gln570Ter	nonsense	Ellis-van Creveld Syndrome	NC_000004.12:g.5631795G>A	ClinVar
RCV000515819	p.Gln570Ter	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5631795G>A	ClinVar
rs772429683	p.Gln570His	missense variant	-	NC_000004.12:g.5631793C>G	ExAC,gnomAD
rs778194782	p.Gln570Arg	missense variant	-	NC_000004.12:g.5631794T>C	ExAC,gnomAD
rs769864196	p.Gln570Ter	stop gained	-	NC_000004.12:g.5631795G>A	ExAC,TOPMed,gnomAD
RCV000666197	p.Gln570Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5631795G>A	ClinVar
RCV000516102	p.Gln570Ter	nonsense	Type IV short rib polydactyly syndrome (SRTD12)	NC_000004.12:g.5631795G>A	ClinVar
rs756271071	p.Glu571Asp	missense variant	-	NC_000004.12:g.5628732C>G	ExAC,TOPMed,gnomAD
RCV000515972	p.Asn572Ter	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5628732dup	ClinVar
rs145286965	p.Asn572Lys	missense variant	-	NC_000004.12:g.5628729A>C	ESP,gnomAD
NCI-TCGA novel	p.Val573Ala	missense variant	-	NC_000004.12:g.5628727A>G	NCI-TCGA
rs1187185433	p.Glu575Gln	missense variant	-	NC_000004.12:g.5628722C>G	gnomAD
NCI-TCGA novel	p.Glu575SerPheSerTerUnk	frameshift	-	NC_000004.12:g.5628722C>-	NCI-TCGA
rs1354154955	p.Leu576Val	missense variant	-	NC_000004.12:g.5628719A>C	TOPMed
rs113869406	p.Met577Thr	missense variant	-	NC_000004.12:g.5628715A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs562337541	p.Met577Ile	missense variant	-	NC_000004.12:g.5628714C>T	ExAC,TOPMed,gnomAD
RCV000637040	p.Met577Thr	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628715A>G	ClinVar
RCV000611448	p.Met577Thr	missense variant	-	NC_000004.12:g.5628715A>G	ClinVar
rs1212989007	p.Asp578Glu	missense variant	-	NC_000004.12:g.5628711G>C	TOPMed
rs757316188	p.Asp578Asn	missense variant	-	NC_000004.12:g.5628713C>T	ExAC,TOPMed,gnomAD
rs751443991	p.Phe579Val	missense variant	-	NC_000004.12:g.5628710A>C	ExAC,TOPMed,gnomAD
rs1348299542	p.Gln581Ter	stop gained	-	NC_000004.12:g.5628704G>A	TOPMed
rs1212805869	p.Gln581Arg	missense variant	-	NC_000004.12:g.5628703T>C	TOPMed
NCI-TCGA novel	p.Gln581ProPheSerTerUnk	frameshift	-	NC_000004.12:g.5628705_5628706insA	NCI-TCGA
rs1265132728	p.Ala582Ser	missense variant	-	NC_000004.12:g.5628701C>A	gnomAD
rs1222356750	p.Ser583Cys	missense variant	-	NC_000004.12:g.5628698T>A	TOPMed,gnomAD
rs1222356750	p.Ser583Arg	missense variant	-	NC_000004.12:g.5628698T>G	TOPMed,gnomAD
rs764004181	p.Lys584Glu	missense variant	-	NC_000004.12:g.5628695T>C	ExAC
rs752398130	p.Arg585Trp	missense variant	-	NC_000004.12:g.5628692T>A	ExAC,gnomAD
rs764828208	p.Arg585Lys	missense variant	-	NC_000004.12:g.5628691C>T	ExAC,gnomAD
rs1297456994	p.Leu588Val	missense variant	-	NC_000004.12:g.5628683G>C	TOPMed,gnomAD
rs776164794	p.Ser589Thr	missense variant	-	NC_000004.12:g.5628679C>G	ExAC,gnomAD
COSM5355791	p.Arg591Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5628673C>A	NCI-TCGA Cosmic
rs770398555	p.Phe592Cys	missense variant	-	NC_000004.12:g.5628670A>C	ExAC,gnomAD
rs762450512	p.Arg595Ser	missense variant	-	NC_000004.12:g.5628660C>G	ExAC,gnomAD
rs774707822	p.Glu596Gly	missense variant	-	NC_000004.12:g.5628658T>C	ExAC,gnomAD
rs769078201	p.Tyr597Ser	missense variant	-	NC_000004.12:g.5628655T>G	ExAC,gnomAD
rs749553549	p.Val599Ile	missense variant	-	NC_000004.12:g.5628650C>T	ExAC
rs775815805	p.Asn601Ser	missense variant	-	NC_000004.12:g.5628643T>C	ExAC,gnomAD
rs942707279	p.Asn601Lys	missense variant	-	NC_000004.12:g.5628642G>T	TOPMed
rs770095404	p.Leu602Ile	missense variant	-	NC_000004.12:g.5628641G>T	ExAC,gnomAD
rs770095404	p.Leu602Phe	missense variant	-	NC_000004.12:g.5628641G>A	ExAC,gnomAD
rs746069003	p.Gln603Pro	missense variant	-	NC_000004.12:g.5628637T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser605Pro	missense variant	-	NC_000004.12:g.5628632A>G	NCI-TCGA
rs1395353793	p.Glu606Lys	missense variant	-	NC_000004.12:g.5628629C>T	TOPMed
NCI-TCGA novel	p.Glu606Asp	missense variant	-	NC_000004.12:g.5628627C>A	NCI-TCGA
RCV000541200	p.Arg608His	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628622C>T	ClinVar
rs145693546	p.Arg608Leu	missense variant	-	NC_000004.12:g.5628622C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145693546	p.Arg608His	missense variant	-	NC_000004.12:g.5628622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371876802	p.Arg608Cys	missense variant	-	NC_000004.12:g.5628623G>A	ESP,ExAC,TOPMed,gnomAD
rs374725146	p.Val609Met	missense variant	-	NC_000004.12:g.5628620C>T	ESP,TOPMed,gnomAD
rs752385254	p.Leu612Phe	missense variant	-	NC_000004.12:g.5628611G>A	ExAC,gnomAD
COSM4859598	p.Ser614Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5628604C>A	NCI-TCGA Cosmic
rs764992658	p.Thr615Ile	missense variant	-	NC_000004.12:g.5628601G>A	ExAC,gnomAD
rs201201603	p.Ala616Thr	missense variant	-	NC_000004.12:g.5628599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000818711	p.Ala616Thr	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628599C>T	ClinVar
RCV000379613	p.Ala616Thr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5628599C>T	ClinVar
rs765933739	p.Ala618Thr	missense variant	-	NC_000004.12:g.5628593C>T	ExAC,TOPMed,gnomAD
rs191166443	p.Ala618Asp	missense variant	-	NC_000004.12:g.5628592G>T	1000Genomes
RCV000003551	p.Gln619Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628590G>A	ClinVar
rs137852925	p.Gln619Ter	stop gained	-	NC_000004.12:g.5628590G>A	ESP,ExAC,TOPMed,gnomAD
rs1016676371	p.Leu620Val	missense variant	-	NC_000004.12:g.5628587G>C	TOPMed
rs1286284839	p.Thr621Ser	missense variant	-	NC_000004.12:g.5628584T>A	TOPMed
rs1300374301	p.His622Gln	missense variant	-	NC_000004.12:g.5628579G>T	gnomAD
rs1409953573	p.His622Tyr	missense variant	-	NC_000004.12:g.5628581G>A	gnomAD
rs776049384	p.His622Leu	missense variant	-	NC_000004.12:g.5628580T>A	ExAC,gnomAD
NCI-TCGA novel	p.His622Gln	missense variant	-	NC_000004.12:g.5628579G>C	NCI-TCGA
rs1444755113	p.Leu623Ile	missense variant	-	NC_000004.12:g.5628578G>T	TOPMed
rs1465002903	p.Leu623Pro	missense variant	-	NC_000004.12:g.5628577A>G	gnomAD
rs1177607224	p.Ile624Leu	missense variant	-	NC_000004.12:g.5628575T>G	gnomAD
rs746147381	p.Gln625Lys	missense variant	-	NC_000004.12:g.5628572G>T	ExAC,gnomAD
rs1001648119	p.Lys626Asn	missense variant	-	NC_000004.12:g.5628567C>A	TOPMed
rs776932063	p.His627Pro	missense variant	-	NC_000004.12:g.5628565T>G	ExAC,gnomAD
rs186197620	p.Glu628Lys	missense variant	-	NC_000004.12:g.5628563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000506847	p.Glu628Lys	missense variant	-	NC_000004.12:g.5628563C>T	ClinVar
NCI-TCGA novel	p.Glu628Asp	missense variant	-	NC_000004.12:g.5628561C>A	NCI-TCGA
rs200140401	p.Ala630Thr	missense variant	-	NC_000004.12:g.5625907C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAR_035933	p.Ala630Ser	Missense	-	-	UniProt
rs770179911	p.Gly631Val	missense variant	-	NC_000004.12:g.5625903C>A	ExAC,TOPMed,gnomAD
rs770179911	p.Gly631Ala	missense variant	-	NC_000004.12:g.5625903C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly631Glu	missense variant	-	NC_000004.12:g.5625903C>T	NCI-TCGA
rs779707723	p.Tyr632Ter	stop gained	-	NC_000004.12:g.5625899G>T	ExAC,gnomAD
rs780637246	p.Asp634Gly	missense variant	-	NC_000004.12:g.5625894T>C	ExAC,gnomAD
rs372260407	p.Glu635Lys	missense variant	-	NC_000004.12:g.5625892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1366322768	p.Gln637His	missense variant	-	NC_000004.12:g.5625884T>A	gnomAD
rs765795086	p.Gln637Arg	missense variant	-	NC_000004.12:g.5625885T>C	ExAC,gnomAD
rs1247108928	p.Met638Arg	missense variant	-	NC_000004.12:g.5625882A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Met640Lys	missense variant	-	NC_000004.12:g.5625876A>T	NCI-TCGA
rs760000678	p.Leu642Ser	missense variant	-	NC_000004.12:g.5625870A>G	ExAC,gnomAD
rs151063193	p.Glu643Asp	missense variant	-	NC_000004.12:g.5625866C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754303821	p.Glu643Gly	missense variant	-	NC_000004.12:g.5625867T>C	ExAC
rs773470850	p.Arg644Gln	missense variant	-	NC_000004.12:g.5625864C>T	ExAC,TOPMed,gnomAD
rs760871098	p.Arg644Trp	missense variant	-	NC_000004.12:g.5625865G>A	ExAC,TOPMed,gnomAD
rs773470850	p.Arg644Leu	missense variant	-	NC_000004.12:g.5625864C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala645LeuPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5625862C>-	NCI-TCGA
NCI-TCGA novel	p.Gln646Ter	stop gained	-	NC_000004.12:g.5625859G>A	NCI-TCGA
rs1320934967	p.Thr647Ala	missense variant	-	NC_000004.12:g.5625856T>C	TOPMed
rs1431987950	p.PheSerIleLysGlnLys650Ter	stop gained	-	NC_000004.12:g.5625832_5625846del	gnomAD
RCV000673978	p.Phe650Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5625832_5625846del	ClinVar
rs1010336930	p.Ser651Leu	missense variant	-	NC_000004.12:g.5625843G>A	TOPMed
RCV000435386	p.Ile652Val	missense variant	-	NC_000004.12:g.5625841T>C	ClinVar
rs144670544	p.Ile652Val	missense variant	-	NC_000004.12:g.5625841T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139678716	p.Lys653Arg	missense variant	-	NC_000004.12:g.5625837T>C	ESP,ExAC,TOPMed,gnomAD
rs1367694162	p.Leu656Ser	missense variant	-	NC_000004.12:g.5625828A>G	TOPMed
rs768535791	p.Asp657Gly	missense variant	-	NC_000004.12:g.5625825T>C	ExAC,gnomAD
rs1165551466	p.Asp659Tyr	missense variant	-	NC_000004.12:g.5625820C>A	gnomAD
NCI-TCGA novel	p.Asp659Asn	missense variant	-	NC_000004.12:g.5625820C>T	NCI-TCGA
COSM3301647	p.Lys661Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5625812C>A	NCI-TCGA Cosmic
rs749205651	p.Glu663Gly	missense variant	-	NC_000004.12:g.5625807T>C	ExAC,TOPMed,gnomAD
COSM1430275	p.Lys664ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5625804T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys664Asn	missense variant	-	NC_000004.12:g.5625803C>A	NCI-TCGA
rs769629928	p.Lys665Ile	missense variant	-	NC_000004.12:g.5625801T>A	ExAC,gnomAD
rs779756323	p.Lys665Glu	missense variant	-	NC_000004.12:g.5625802T>C	ExAC,gnomAD
rs745516521	p.Lys666Arg	missense variant	-	NC_000004.12:g.5625798T>C	ExAC,gnomAD
COSM1430274	p.Leu667Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5625796G>A	NCI-TCGA Cosmic
COSM1486015	p.Leu667Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5625795A>G	NCI-TCGA Cosmic
rs1269107887	p.Gln669Pro	missense variant	-	NC_000004.12:g.5625789T>G	TOPMed
rs1490416377	p.Leu671Val	missense variant	-	NC_000004.12:g.5625784A>C	gnomAD
rs1346675689	p.Leu671Ter	stop gained	-	NC_000004.12:g.5625783A>C	gnomAD
rs1270336297	p.Leu671Phe	missense variant	-	NC_000004.12:g.5625782T>A	gnomAD
rs777398767	p.Ile672Lys	missense variant	-	NC_000004.12:g.5625780A>T	ExAC,gnomAD
rs751062042	p.Ile672Val	missense variant	-	NC_000004.12:g.5625781T>C	ExAC,gnomAD
rs755581679	p.Lys674Arg	missense variant	-	NC_000004.12:g.5625774T>C	ExAC,gnomAD
rs754390055	p.Arg675Gly	missense variant	-	NC_000004.12:g.5625772T>C	ExAC,TOPMed,gnomAD
RCV000665358	p.Arg677Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5625766G>A	ClinVar
rs369923617	p.Arg677Pro	missense variant	-	NC_000004.12:g.5625765C>G	ESP,ExAC,TOPMed,gnomAD
rs369923617	p.Arg677Gln	missense variant	-	NC_000004.12:g.5625765C>T	ESP,ExAC,TOPMed,gnomAD
rs73198165	p.Arg677Ter	stop gained	-	NC_000004.12:g.5625766G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148407223	p.Leu680Pro	missense variant	-	NC_000004.12:g.5625756A>G	ESP,ExAC,TOPMed,gnomAD
RCV000406998	p.Leu680Pro	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5625756A>G	ClinVar
rs761904734	p.Gln681Pro	missense variant	-	NC_000004.12:g.5625753T>G	ExAC
rs781606596	p.His683Asp	missense variant	-	NC_000004.12:g.5622991G>C	ExAC,gnomAD
NCI-TCGA novel	p.His683Pro	missense variant	-	NC_000004.12:g.5622990T>G	NCI-TCGA
rs1183344146	p.Arg684Lys	missense variant	-	NC_000004.12:g.5622987C>T	gnomAD
rs757608690	p.Glu685Lys	missense variant	-	NC_000004.12:g.5622985C>T	ExAC,TOPMed,gnomAD
RCV000494449	p.Arg687His	missense variant	-	NC_000004.12:g.5622978C>T	ClinVar
rs368851256	p.Arg687Gly	missense variant	-	NC_000004.12:g.5622979G>C	ESP,ExAC,TOPMed,gnomAD
rs144420242	p.Arg687Leu	missense variant	-	NC_000004.12:g.5622978C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144420242	p.Arg687His	missense variant	-	NC_000004.12:g.5622978C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368851256	p.Arg687Cys	missense variant	-	NC_000004.12:g.5622979G>A	ESP,ExAC,TOPMed,gnomAD
RCV000765772	p.Arg687His	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622978C>T	ClinVar
rs752868137	p.Arg688Lys	missense variant	-	NC_000004.12:g.5622975C>T	ExAC,gnomAD
rs1337341467	p.Arg688Ser	missense variant	-	NC_000004.12:g.5622974C>G	TOPMed
rs1453331008	p.Ala691Val	missense variant	-	NC_000004.12:g.5622966G>A	gnomAD
rs1314239464	p.Ala691Thr	missense variant	-	NC_000004.12:g.5622967C>T	TOPMed,gnomAD
rs1318313186	p.Ser692Tyr	missense variant	-	NC_000004.12:g.5622963G>T	gnomAD
rs199824658	p.Val693Ile	missense variant	-	NC_000004.12:g.5622961C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773029841	p.Gly694Ser	missense variant	-	NC_000004.12:g.5622958C>T	ExAC,TOPMed,gnomAD
rs771804036	p.Gly694Asp	missense variant	-	NC_000004.12:g.5622957C>T	ExAC,gnomAD
rs773955048	p.Glu695Lys	missense variant	-	NC_000004.12:g.5622955C>T	ExAC,TOPMed,gnomAD
rs746449125	p.Ala696Gly	missense variant	-	NC_000004.12:g.5622951G>C	ExAC
rs768050258	p.Ala696Pro	missense variant	-	NC_000004.12:g.5622952C>G	ExAC,gnomAD
rs768050258	p.Ala696Thr	missense variant	-	NC_000004.12:g.5622952C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe697Leu	missense variant	-	NC_000004.12:g.5622949A>G	NCI-TCGA
rs781623802	p.Arg698Ter	stop gained	-	NC_000004.12:g.5622946G>A	ExAC,TOPMed,gnomAD
rs771312318	p.Arg698Gln	missense variant	-	NC_000004.12:g.5622945C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg698Pro	missense variant	-	NC_000004.12:g.5622945C>G	NCI-TCGA
RCV000250571	p.Thr699Ala	missense variant	-	NC_000004.12:g.5622943T>C	ClinVar
rs730469	p.Thr699Ala	missense variant	-	NC_000004.12:g.5622943T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778086528	p.Thr699Met	missense variant	-	NC_000004.12:g.5622942G>A	ExAC,TOPMed,gnomAD
RCV000349643	p.Thr699Ala	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622943T>C	ClinVar
rs752857293	p.Val700Ile	missense variant	-	NC_000004.12:g.5622940C>T	ExAC,TOPMed,gnomAD
rs1361577884	p.Glu701Asp	missense variant	-	NC_000004.12:g.5622935C>G	gnomAD
rs779105373	p.Asp702Gly	missense variant	-	NC_000004.12:g.5622933T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp702Val	missense variant	-	NC_000004.12:g.5622933T>A	NCI-TCGA
rs1381479998	p.Ala703Thr	missense variant	-	NC_000004.12:g.5622931C>T	gnomAD
rs754954578	p.Ala703Val	missense variant	-	NC_000004.12:g.5622930G>A	ExAC,TOPMed,gnomAD
rs867605179	p.Gly704Cys	missense variant	-	NC_000004.12:g.5622928C>A	TOPMed,gnomAD
rs867605179	p.Gly704Ser	missense variant	-	NC_000004.12:g.5622928C>T	TOPMed,gnomAD
rs924514803	p.His708Gln	missense variant	-	NC_000004.12:g.5622914G>C	TOPMed,gnomAD
COSM1486014	p.Gln709Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5622913G>A	NCI-TCGA Cosmic
rs753830665	p.Gln709Arg	missense variant	-	NC_000004.12:g.5622912T>C	ExAC,gnomAD
rs1425827784	p.Arg711Lys	missense variant	-	NC_000004.12:g.5622906C>T	gnomAD
rs371896802	p.Ser712Asn	missense variant	-	NC_000004.12:g.5622903C>T	ESP,ExAC,TOPMed,gnomAD
rs143662104	p.Leu713Met	missense variant	-	NC_000004.12:g.5622901G>T	ESP,ExAC,TOPMed,gnomAD
rs143662104	p.Leu713Val	missense variant	-	NC_000004.12:g.5622901G>C	ESP,ExAC,TOPMed,gnomAD
rs1218391629	p.Met714Val	missense variant	-	NC_000004.12:g.5622898T>C	TOPMed
rs1264280661	p.Met714Thr	missense variant	-	NC_000004.12:g.5622897A>G	TOPMed
rs773864526	p.Glu715Gly	missense variant	-	NC_000004.12:g.5622894T>C	ExAC,gnomAD
rs1192920112	p.Glu716Asp	missense variant	-	NC_000004.12:g.5622890C>A	TOPMed
rs762306367	p.Gly718Ser	missense variant	-	NC_000004.12:g.5622886C>T	ExAC,TOPMed,gnomAD
rs1256824226	p.Gly718Asp	missense variant	-	NC_000004.12:g.5622885C>T	gnomAD
rs201181221	p.Thr720Asn	missense variant	-	NC_000004.12:g.5622879G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr720Ala	missense variant	-	NC_000004.12:g.5622880T>C	NCI-TCGA
rs1307819549	p.Leu721Pro	missense variant	-	NC_000004.12:g.5622876A>G	gnomAD
rs1226632645	p.Leu721Val	missense variant	-	NC_000004.12:g.5622877G>C	TOPMed,gnomAD
rs1307819549	p.Leu721Gln	missense variant	-	NC_000004.12:g.5622876A>T	gnomAD
NCI-TCGA novel	p.Leu721Met	missense variant	-	NC_000004.12:g.5622877G>T	NCI-TCGA
rs778174331	p.Glu722Gln	missense variant	-	NC_000004.12:g.5622874C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu722Asp	missense variant	-	NC_000004.12:g.5622872C>A	NCI-TCGA
NCI-TCGA novel	p.Leu724Gln	missense variant	-	NC_000004.12:g.5622867A>T	NCI-TCGA
rs778935159	p.Gln725Arg	missense variant	-	NC_000004.12:g.5622864T>C	ExAC,gnomAD
rs570546202	p.Gln725Ter	stop gained	-	NC_000004.12:g.5622865G>A	1000Genomes
rs140363692	p.Arg727His	missense variant	-	NC_000004.12:g.5622858C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755359832	p.Arg727Cys	missense variant	-	NC_000004.12:g.5622859G>A	ExAC,gnomAD
RCV000756100	p.Arg727His	missense variant	-	NC_000004.12:g.5622858C>T	ClinVar
rs767405733	p.Ala732Ser	missense variant	-	NC_000004.12:g.5622844C>A	ExAC,TOPMed,gnomAD
rs767405733	p.Ala732Thr	missense variant	-	NC_000004.12:g.5622844C>T	ExAC,TOPMed,gnomAD
rs1479577183	p.Ala732Val	missense variant	-	NC_000004.12:g.5622843G>A	gnomAD
COSM3604586	p.Asp734Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622836G>C	NCI-TCGA Cosmic
rs763600300	p.Asp735Asn	missense variant	-	NC_000004.12:g.5622835C>T	ExAC,gnomAD
rs1248547983	p.Asp735Val	missense variant	-	NC_000004.12:g.5622834T>A	gnomAD
COSM447959	p.Leu736Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622832G>A	NCI-TCGA Cosmic
rs1480925109	p.Arg737Lys	missense variant	-	NC_000004.12:g.5622828C>T	TOPMed,gnomAD
rs775019250	p.Thr740Ile	missense variant	-	NC_000004.12:g.5622819G>A	ExAC,TOPMed,gnomAD
rs954137204	p.Leu741Val	missense variant	-	NC_000004.12:g.5622817G>C	TOPMed
COSM3604582	p.Leu741Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622817G>A	NCI-TCGA Cosmic
rs1030104303	p.Ser742Pro	missense variant	-	NC_000004.12:g.5622814A>G	TOPMed
rs764719201	p.Ser742Leu	missense variant	-	NC_000004.12:g.5622813G>A	ExAC,TOPMed,gnomAD
rs1160540082	p.Glu745Ala	missense variant	-	NC_000004.12:g.5622804T>G	TOPMed
rs961642597	p.Ala747Ser	missense variant	-	NC_000004.12:g.5622799C>A	TOPMed,gnomAD
rs773649031	p.Thr748Ala	missense variant	-	NC_000004.12:g.5622796T>C	ExAC,gnomAD
rs1300233955	p.Asp749Asn	missense variant	-	NC_000004.12:g.5622793C>T	gnomAD
NCI-TCGA novel	p.Asp749ThrPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5622793C>-	NCI-TCGA
rs144270330	p.Glu750Lys	missense variant	-	NC_000004.12:g.5622790C>T	ESP,ExAC,TOPMed,gnomAD
rs768810603	p.Glu750Gly	missense variant	-	NC_000004.12:g.5622789T>C	ExAC,TOPMed,gnomAD
RCV000388852	p.Glu750Lys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622790C>T	ClinVar
rs888630474	p.Leu751Val	missense variant	-	NC_000004.12:g.5622787G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu751Met	missense variant	-	NC_000004.12:g.5622787G>T	NCI-TCGA
rs532778814	p.Arg752Trp	missense variant	-	NC_000004.12:g.5622784G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139717271	p.Arg752Gln	missense variant	-	NC_000004.12:g.5622783C>T	ESP,ExAC,TOPMed,gnomAD
RCV000352023	p.Arg752Trp	missense variant	-	NC_000004.12:g.5622784G>A	ClinVar
rs139717271	p.Arg752Pro	missense variant	-	NC_000004.12:g.5622783C>G	ESP,ExAC,TOPMed,gnomAD
RCV000637034	p.Arg753Cys	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622781G>A	ClinVar
RCV000315693	p.Arg753Cys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622781G>A	ClinVar
rs370964676	p.Arg753His	missense variant	-	NC_000004.12:g.5622780C>T	ESP,ExAC,TOPMed,gnomAD
rs375693723	p.Arg753Cys	missense variant	-	NC_000004.12:g.5622781G>A	ESP,ExAC,TOPMed,gnomAD
RCV000763526	p.Gln755Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622775G>A	ClinVar
rs751356206	p.Gln755Ter	stop gained	-	NC_000004.12:g.5622775G>A	ExAC,TOPMed,gnomAD
RCV000724018	p.Gln755Ter	nonsense	-	NC_000004.12:g.5622775G>A	ClinVar
COSM4125204	p.Asn756Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622772T>C	NCI-TCGA Cosmic
rs146837459	p.Asn756Thr	missense variant	-	NC_000004.12:g.5622771T>G	ESP,ExAC,TOPMed,gnomAD
rs758111384	p.Met759Val	missense variant	-	NC_000004.12:g.5622763T>C	ExAC,TOPMed,gnomAD
rs1259627517	p.Met759Ile	missense variant	-	NC_000004.12:g.5622761C>G	gnomAD
rs1178974568	p.Gln761Arg	missense variant	-	NC_000004.12:g.5622756T>C	TOPMed
NCI-TCGA novel	p.Gln761Leu	missense variant	-	NC_000004.12:g.5622756T>A	NCI-TCGA
rs1239188801	p.Lys765Glu	missense variant	-	NC_000004.12:g.5622745T>C	gnomAD
rs149854557	p.Arg766Leu	missense variant	-	NC_000004.12:g.5622741C>A	ESP,ExAC,TOPMed,gnomAD
rs149854557	p.Arg766His	missense variant	-	NC_000004.12:g.5622741C>T	ESP,ExAC,TOPMed,gnomAD
rs376238707	p.Arg766Cys	missense variant	-	NC_000004.12:g.5622742G>A	ESP,ExAC,TOPMed,gnomAD
rs376238707	p.Arg766Ser	missense variant	-	NC_000004.12:g.5622742G>T	ESP,ExAC,TOPMed,gnomAD
rs1382406140	p.Val768Ala	missense variant	-	NC_000004.12:g.5622735A>G	gnomAD
rs1454769055	p.Pro769Ser	missense variant	-	NC_000004.12:g.5622733G>A	gnomAD
rs1467163207	p.Trp770Arg	missense variant	-	NC_000004.12:g.5622730A>G	TOPMed
rs572056540	p.Trp770Cys	missense variant	-	NC_000004.12:g.5622728C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs572056540	p.Trp770Ter	stop gained	-	NC_000004.12:g.5622728C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1161530763	p.Gln774Glu	missense variant	-	NC_000004.12:g.5622718G>C	gnomAD
rs1161530763	p.Gln774Ter	stop gained	-	NC_000004.12:g.5622718G>A	gnomAD
rs1243518404	p.Glu778Gln	missense variant	-	NC_000004.12:g.5622706C>G	gnomAD
NCI-TCGA novel	p.Glu778Ter	stop gained	-	NC_000004.12:g.5622706C>A	NCI-TCGA
rs770002511	p.Glu779Lys	missense variant	-	NC_000004.12:g.5622703C>T	ExAC,gnomAD
rs150691722	p.His780Gln	missense variant	-	NC_000004.12:g.5622698G>C	ESP,ExAC,TOPMed,gnomAD
rs781305791	p.Gly781Asp	missense variant	-	NC_000004.12:g.5622696C>T	ExAC,TOPMed,gnomAD
rs1272970867	p.Gly781Ser	missense variant	-	NC_000004.12:g.5622697C>T	TOPMed
rs758129812	p.Met784Thr	missense variant	-	NC_000004.12:g.5622687A>G	ExAC,gnomAD
rs202191109	p.Met784Leu	missense variant	-	NC_000004.12:g.5622688T>A	ESP,ExAC,TOPMed,gnomAD
rs202191109	p.Met784Val	missense variant	-	NC_000004.12:g.5622688T>C	ESP,ExAC,TOPMed,gnomAD
RCV000658466	p.Met784Val	missense variant	-	NC_000004.12:g.5622688T>C	ClinVar
rs1182522981	p.Ala786Val	missense variant	-	NC_000004.12:g.5622681G>A	TOPMed
rs1316162442	p.Ala786Ser	missense variant	-	NC_000004.12:g.5622682C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala786Pro	missense variant	-	NC_000004.12:g.5622682C>G	NCI-TCGA
RCV000714815	p.Arg787Trp	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622679G>A	ClinVar
rs1392104625	p.Arg787Gln	missense variant	-	NC_000004.12:g.5622678C>T	TOPMed,gnomAD
RCV000260482	p.Arg787Trp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622679G>A	ClinVar
RCV000714816	p.Arg787Trp	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5622679G>A	ClinVar
rs776830520	p.Arg787Trp	missense variant	-	NC_000004.12:g.5622679G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg787Gly	missense variant	-	NC_000004.12:g.5622679G>C	NCI-TCGA
NCI-TCGA novel	p.Arg787Pro	missense variant	-	NC_000004.12:g.5622678C>G	NCI-TCGA
rs376048508	p.Ala788Val	missense variant	-	NC_000004.12:g.5622675G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765883164	p.Glu789Lys	missense variant	-	NC_000004.12:g.5622673C>T	ExAC,TOPMed,gnomAD
rs765883164	p.Glu789Gln	missense variant	-	NC_000004.12:g.5622673C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu789Asp	missense variant	-	NC_000004.12:g.5622671C>A	NCI-TCGA
NCI-TCGA novel	p.Glu792Lys	missense variant	-	NC_000004.12:g.5622664C>T	NCI-TCGA
rs141172036	p.Gly793Trp	missense variant	-	NC_000004.12:g.5622661C>A	ESP,ExAC,TOPMed,gnomAD
rs141172036	p.Gly793Arg	missense variant	-	NC_000004.12:g.5622661C>T	ESP,ExAC,TOPMed,gnomAD
rs141172036	p.Gly793Arg	missense variant	-	NC_000004.12:g.5622661C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu794ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5622658C>-	NCI-TCGA
NCI-TCGA novel	p.Glu794Lys	missense variant	-	NC_000004.12:g.5622658C>T	NCI-TCGA
rs1457552316	p.Arg796Gly	missense variant	-	NC_000004.12:g.5622652T>C	TOPMed,gnomAD
rs1165216652	p.Arg796Thr	missense variant	-	NC_000004.12:g.5622651C>G	gnomAD
COSM4858418	p.Asp797Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622649C>A	NCI-TCGA Cosmic
rs1193370351	p.Arg798Lys	missense variant	-	NC_000004.12:g.5622645C>T	gnomAD
rs1193370351	p.Arg798Thr	missense variant	-	NC_000004.12:g.5622645C>G	gnomAD
rs148607525	p.Arg798Trp	missense variant	-	NC_000004.12:g.5622646T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Arg798Ser	missense variant	-	NC_000004.12:g.5622644C>G	NCI-TCGA
RCV000319438	p.Asp799His	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622643C>G	ClinVar
rs143491078	p.Asp799His	missense variant	-	NC_000004.12:g.5622643C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1282621867	p.Gln800Ter	stop gained	-	NC_000004.12:g.5622640G>A	TOPMed
rs577020845	p.Gly802Arg	missense variant	-	NC_000004.12:g.5622634C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1293200318	p.Val803Ile	missense variant	-	NC_000004.12:g.5622631C>T	gnomAD
RCV000264264	p.Val806Met	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622622C>T	ClinVar
rs138128087	p.Val806Met	missense variant	-	NC_000004.12:g.5622622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771884323	p.Arg807Ser	missense variant	-	NC_000004.12:g.5622617C>A	ExAC,TOPMed,gnomAD
rs541956407	p.Gln808His	missense variant	-	NC_000004.12:g.5622614C>G	ExAC,TOPMed,gnomAD
rs745640603	p.Ala814Thr	missense variant	-	NC_000004.12:g.5622598C>T	gnomAD
rs868418252	p.Ala814Val	missense variant	-	NC_000004.12:g.5622597G>A	TOPMed
rs745640603	p.Ala814Ser	missense variant	-	NC_000004.12:g.5622598C>A	gnomAD
rs868418252	p.Ala814Asp	missense variant	-	NC_000004.12:g.5622597G>T	TOPMed
rs201210334	p.Pro815Ser	missense variant	-	NC_000004.12:g.5622595G>A	ExAC,TOPMed,gnomAD
COSM3604574	p.Pro815Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622594G>A	NCI-TCGA Cosmic
rs1023896680	p.Glu816Lys	missense variant	-	NC_000004.12:g.5622592C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu816Asp	missense variant	-	NC_000004.12:g.5622590C>A	NCI-TCGA
rs779490211	p.Val818Met	missense variant	-	NC_000004.12:g.5622586C>T	ExAC,TOPMed,gnomAD
rs779490211	p.Val818Leu	missense variant	-	NC_000004.12:g.5622586C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu821Asp	missense variant	-	NC_000004.12:g.5622575C>A	NCI-TCGA
rs376155783	p.Ala823Val	missense variant	-	NC_000004.12:g.5622570G>A	ESP,ExAC,TOPMed,gnomAD
rs376155783	p.Ala823Gly	missense variant	-	NC_000004.12:g.5622570G>C	ESP,ExAC,TOPMed,gnomAD
rs376155783	p.Ala823Glu	missense variant	-	NC_000004.12:g.5622570G>T	ESP,ExAC,TOPMed,gnomAD
rs764660722	p.Glu824Asp	missense variant	-	NC_000004.12:g.5622566C>G	ExAC,gnomAD
RCV000703611	p.Leu825Pro	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622564A>G	ClinVar
rs774185697	p.Leu825Val	missense variant	-	NC_000004.12:g.5622565G>C	ExAC,TOPMed,gnomAD
rs774185697	p.Leu825Met	missense variant	-	NC_000004.12:g.5622565G>T	ExAC,TOPMed,gnomAD
rs1270446777	p.Leu825Pro	missense variant	-	NC_000004.12:g.5622564A>G	gnomAD
rs1436641687	p.Arg826Gln	missense variant	-	NC_000004.12:g.5622561C>T	TOPMed,gnomAD
rs548681312	p.Arg826Ter	stop gained	-	NC_000004.12:g.5622562G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000393643	p.Arg826Ter	nonsense	-	NC_000004.12:g.5622562G>A	ClinVar
RCV000672927	p.Arg826Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622562G>A	ClinVar
rs373953980	p.Arg827Cys	missense variant	-	NC_000004.12:g.5622559G>A	ESP,ExAC,TOPMed,gnomAD
rs776852815	p.Arg827His	missense variant	-	NC_000004.12:g.5622558C>T	ExAC,gnomAD
RCV000668731	p.Trp828Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622554C>T	ClinVar
rs770918273	p.Trp828Ter	stop gained	-	NC_000004.12:g.5622554C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp828Ser	missense variant	-	NC_000004.12:g.5622555C>G	NCI-TCGA
rs944565097	p.His830Gln	missense variant	-	NC_000004.12:g.5622548G>T	gnomAD
rs773155617	p.His830Tyr	missense variant	-	NC_000004.12:g.5622550G>A	ExAC,gnomAD
rs944565097	p.His830Gln	missense variant	-	NC_000004.12:g.5622548G>C	gnomAD
rs772046114	p.Leu831Gln	missense variant	-	NC_000004.12:g.5622546A>T	ExAC,gnomAD
rs778746884	p.Ile832Leu	missense variant	-	NC_000004.12:g.5622544T>G	ExAC,gnomAD
rs1335166223	p.Met834Thr	missense variant	-	NC_000004.12:g.5622537A>G	TOPMed,gnomAD
rs527993206	p.Lys835Asn	missense variant	-	NC_000004.12:g.5618679C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748269961	p.Cys837Tyr	missense variant	-	NC_000004.12:g.5618674C>T	gnomAD
rs750631490	p.Ser842Cys	missense variant	-	NC_000004.12:g.5618659G>C	ExAC,TOPMed,gnomAD
rs1429597430	p.Ser842Pro	missense variant	-	NC_000004.12:g.5618660A>G	TOPMed,gnomAD
rs1299564230	p.Leu843Val	missense variant	-	NC_000004.12:g.5618657G>C	gnomAD
rs576455064	p.Glu845Gln	missense variant	-	NC_000004.12:g.5618651C>G	ExAC,gnomAD
rs576455064	p.Glu845Ter	stop gained	-	NC_000004.12:g.5618651C>A	ExAC,gnomAD
rs1163315482	p.Glu846Asp	missense variant	-	NC_000004.12:g.5618646C>G	gnomAD
rs1445564675	p.Glu847Asp	missense variant	-	NC_000004.12:g.5618643C>A	gnomAD
rs1284635680	p.Leu848Val	missense variant	-	NC_000004.12:g.5618642G>C	TOPMed,gnomAD
rs774306509	p.Leu849Phe	missense variant	-	NC_000004.12:g.5618639G>A	ExAC,gnomAD
rs1242760301	p.Arg850Lys	missense variant	-	NC_000004.12:g.5618635C>T	gnomAD
rs373004013	p.Met851Val	missense variant	-	NC_000004.12:g.5618633T>C	ESP,ExAC,TOPMed,gnomAD
rs545949431	p.Met851Ile	missense variant	-	NC_000004.12:g.5618631C>T	TOPMed
rs1053353798	p.Arg852Trp	missense variant	-	NC_000004.12:g.5618630T>A	TOPMed
NCI-TCGA novel	p.Gln853Glu	missense variant	-	NC_000004.12:g.5618627G>C	NCI-TCGA
rs769458751	p.His856Arg	missense variant	-	NC_000004.12:g.5618617T>C	ExAC,TOPMed,gnomAD
rs745525669	p.His856Gln	missense variant	-	NC_000004.12:g.5618616A>T	ExAC,TOPMed,gnomAD
rs746466937	p.Cys858Ser	missense variant	-	NC_000004.12:g.5618612A>T	ExAC,gnomAD
rs777123906	p.Cys858Ser	missense variant	-	NC_000004.12:g.5618611C>G	ExAC,gnomAD
rs542471141	p.Phe859Leu	missense variant	-	NC_000004.12:g.5618609A>G	1000Genomes,ExAC
rs749754185	p.Ala860Val	missense variant	-	NC_000004.12:g.5618605G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln861His	missense variant	-	NC_000004.12:g.5618601C>A	NCI-TCGA
COSM6167395	p.Met862Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5618598C>G	NCI-TCGA Cosmic
rs1329414715	p.Met862Val	missense variant	-	NC_000004.12:g.5618600T>C	TOPMed
NCI-TCGA novel	p.Met862Ile	missense variant	-	NC_000004.12:g.5618598C>A	NCI-TCGA
rs780525637	p.Asp863Gly	missense variant	-	NC_000004.12:g.5618596T>C	ExAC,TOPMed,gnomAD
rs780525637	p.Asp863Val	missense variant	-	NC_000004.12:g.5618596T>A	ExAC,TOPMed,gnomAD
RCV000756101	p.Arg864Lys	missense variant	-	NC_000004.12:g.5618593C>T	ClinVar
rs369531662	p.Arg864Thr	missense variant	-	NC_000004.12:g.5618593C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756413541	p.Arg864Gly	missense variant	-	NC_000004.12:g.5618594T>C	ExAC,TOPMed,gnomAD
rs369531662	p.Arg864Lys	missense variant	-	NC_000004.12:g.5618593C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781355081	p.Ala867Ser	missense variant	-	NC_000004.12:g.5618585C>A	ExAC,gnomAD
rs751690782	p.Leu868Phe	missense variant	-	NC_000004.12:g.5618582G>A	ExAC,gnomAD
rs375398228	p.Pro869Leu	missense variant	-	NC_000004.12:g.5618578G>A	ESP,ExAC,TOPMed,gnomAD
rs375398228	p.Pro869Arg	missense variant	-	NC_000004.12:g.5618578G>C	ESP,ExAC,TOPMed,gnomAD
rs1285441781	p.Pro869Ser	missense variant	-	NC_000004.12:g.5618579G>A	TOPMed,gnomAD
rs955333101	p.Lys870Arg	missense variant	-	NC_000004.12:g.5618575T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys870Asn	missense variant	-	NC_000004.12:g.5618574C>A	NCI-TCGA
rs577623210	p.Ile871Val	missense variant	-	NC_000004.12:g.5618573T>C	1000Genomes,ExAC,gnomAD
rs376941649	p.Arg872Gln	missense variant	-	NC_000004.12:g.5618569C>T	ESP,ExAC,TOPMed,gnomAD
rs557480563	p.Arg872Trp	missense variant	-	NC_000004.12:g.5618570G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1307693776	p.Ala873Pro	missense variant	-	NC_000004.12:g.5618567C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala873ProPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5618567C>-	NCI-TCGA
rs114764023	p.Arg874Pro	missense variant	-	NC_000004.12:g.5618563C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114764023	p.Arg874Gln	missense variant	-	NC_000004.12:g.5618563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000266506	p.Arg874Gln	missense variant	-	NC_000004.12:g.5618563C>T	ClinVar
rs760382778	p.Arg874Ter	stop gained	-	NC_000004.12:g.5618564G>A	ExAC,TOPMed,gnomAD
RCV000702796	p.Arg874Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5618564G>A	ClinVar
rs771478207	p.Val875Ile	missense variant	-	NC_000004.12:g.5618561C>T	ExAC,gnomAD
rs1344248732	p.Gln878Arg	missense variant	-	NC_000004.12:g.5618551T>C	gnomAD
NCI-TCGA novel	p.Gln879Leu	missense variant	-	NC_000004.12:g.5618548T>A	NCI-TCGA
rs182321411	p.Gln881His	missense variant	-	NC_000004.12:g.5618541C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs182321411	p.Gln881His	missense variant	-	NC_000004.12:g.5618541C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs190540235	p.Thr882Ala	missense variant	-	NC_000004.12:g.5618540T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000389188	p.Thr882Ala	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5618540T>C	ClinVar
rs140951974	p.Ala883Val	missense variant	-	NC_000004.12:g.5618536G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs981099037	p.Trp884Ter	stop gained	-	NC_000004.12:g.5618532C>T	-
RCV000523403	p.Trp884Ter	nonsense	-	NC_000004.12:g.5618532C>T	ClinVar
RCV000023642	p.Arg885Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5618531G>A	ClinVar
rs146538906	p.Arg885Ter	stop gained	-	NC_000004.12:g.5618531G>A	ESP,ExAC,TOPMed,gnomAD
rs201154245	p.Arg885Gln	missense variant	-	NC_000004.12:g.5618530C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752704825	p.Ala887Thr	missense variant	-	NC_000004.12:g.5618525C>T	ExAC,gnomAD
COSM4845754	p.Glu888Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5618522C>T	NCI-TCGA Cosmic
rs371698182	p.Val890Met	missense variant	-	NC_000004.12:g.5618516C>T	ESP,ExAC,TOPMed,gnomAD
rs760470898	p.Val890Glu	missense variant	-	NC_000004.12:g.5618515A>T	ExAC,TOPMed,gnomAD
rs760470898	p.Val890Gly	missense variant	-	NC_000004.12:g.5618515A>C	ExAC,TOPMed,gnomAD
rs371698182	p.Val890Leu	missense variant	-	NC_000004.12:g.5618516C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val890Ala	missense variant	-	NC_000004.12:g.5618515A>G	NCI-TCGA
rs1176572375	p.Lys891Glu	missense variant	-	NC_000004.12:g.5618513T>C	gnomAD
rs1013594811	p.Leu892Pro	missense variant	-	NC_000004.12:g.5618509A>G	TOPMed
rs1553830511	p.Asp893Asn	missense variant	-	NC_000004.12:g.5618507C>T	-
RCV000658305	p.Asp893Asn	missense variant	-	NC_000004.12:g.5618507C>T	ClinVar
rs772672973	p.Gln894His	missense variant	-	NC_000004.12:g.5618502C>G	ExAC,TOPMed,gnomAD
rs556658594	p.Gln894Leu	missense variant	-	NC_000004.12:g.5618503T>A	TOPMed,gnomAD
rs202146936	p.Ala895Ser	missense variant	-	NC_000004.12:g.5618501C>A	1000Genomes,TOPMed
rs1201319727	p.Ala895Val	missense variant	-	NC_000004.12:g.5618500G>A	gnomAD
rs761177898	p.Val896Met	missense variant	-	NC_000004.12:g.5618498C>T	ExAC,TOPMed,gnomAD
rs776093627	p.Ala898Val	missense variant	-	NC_000004.12:g.5618491G>A	ExAC,gnomAD
rs770322843	p.Pro899Ala	missense variant	-	NC_000004.12:g.5618489G>C	ExAC,gnomAD
rs770322843	p.Pro899Ser	missense variant	-	NC_000004.12:g.5618489G>A	ExAC,gnomAD
rs771222380	p.Gln902His	missense variant	-	NC_000004.12:g.5618478C>G	ExAC,gnomAD
rs746349084	p.Gln902Arg	missense variant	-	NC_000004.12:g.5618479T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln902Ter	stop gained	-	NC_000004.12:g.5618480G>A	NCI-TCGA
rs1260429265	p.Gln904Ter	stop gained	-	NC_000004.12:g.5615541G>A	gnomAD
rs780090883	p.Gln904Arg	missense variant	-	NC_000004.12:g.5615540T>C	ExAC,gnomAD
rs755966512	p.Lys906Gln	missense variant	-	NC_000004.12:g.5615535T>G	ExAC,gnomAD
rs755966512	p.Lys906Glu	missense variant	-	NC_000004.12:g.5615535T>C	ExAC,gnomAD
rs1195701165	p.Val907Met	missense variant	-	NC_000004.12:g.5615532C>T	TOPMed
rs750222689	p.Lys909Asn	missense variant	-	NC_000004.12:g.5615524C>A	ExAC,gnomAD
rs767317898	p.Arg911Pro	missense variant	-	NC_000004.12:g.5615519C>G	ExAC,TOPMed,gnomAD
rs767317898	p.Arg911Gln	missense variant	-	NC_000004.12:g.5615519C>T	ExAC,TOPMed,gnomAD
RCV000328600	p.Arg911Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5615519C>T	ClinVar
rs180747811	p.Lys913Asn	missense variant	-	NC_000004.12:g.5615512C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000516048	p.Lys913Asn	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5615512C>G	ClinVar
rs1285169459	p.Lys915Glu	missense variant	-	NC_000004.12:g.5615508T>C	TOPMed,gnomAD
RCV000258000	p.Ser916Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5615508del	ClinVar
NCI-TCGA novel	p.Ser916Asn	missense variant	-	NC_000004.12:g.5615504C>T	NCI-TCGA
rs763611499	p.Lys917Asn	missense variant	-	NC_000004.12:g.5615500C>G	ExAC,gnomAD
rs751203969	p.Lys917Glu	missense variant	-	NC_000004.12:g.5615502T>C	ExAC,gnomAD
rs1400740204	p.Gly918Ala	missense variant	-	NC_000004.12:g.5615498C>G	gnomAD
RCV000263029	p.Leu920Phe	missense variant	-	NC_000004.12:g.5615493G>A	ClinVar
rs762404021	p.Leu920Ile	missense variant	-	NC_000004.12:g.5615493G>T	ExAC,TOPMed,gnomAD
rs762404021	p.Leu920Phe	missense variant	-	NC_000004.12:g.5615493G>A	ExAC,TOPMed,gnomAD
rs754377858	p.Leu921Met	missense variant	-	NC_000004.12:g.5615490G>T	ExAC,TOPMed,gnomAD
rs766837833	p.Lys923Asn	missense variant	-	NC_000004.12:g.5615482C>G	ExAC,TOPMed,gnomAD
rs761224381	p.Cys924Gly	missense variant	-	NC_000004.12:g.5615481A>C	ExAC,TOPMed,gnomAD
rs899110894	p.Cys924Phe	missense variant	-	NC_000004.12:g.5615480C>A	TOPMed
rs773508842	p.Ile925Val	missense variant	-	NC_000004.12:g.5615478T>C	ExAC,gnomAD
rs772481704	p.Ile925Met	missense variant	-	NC_000004.12:g.5615476G>C	ExAC,TOPMed,gnomAD
rs761946397	p.Glu926Lys	missense variant	-	NC_000004.12:g.5615475C>T	ExAC,gnomAD
RCV000671116	p.Glu926Lys	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5615475C>T	ClinVar
rs774657144	p.Lys928Arg	missense variant	-	NC_000004.12:g.5615468T>C	ExAC,TOPMed,gnomAD
rs768878731	p.His930Gln	missense variant	-	NC_000004.12:g.5615461G>T	ExAC,TOPMed,gnomAD
RCV000492998	p.Leu931Phe	missense variant	-	NC_000004.12:g.5615460G>A	ClinVar
rs749339159	p.Leu931Phe	missense variant	-	NC_000004.12:g.5615460G>A	ExAC,TOPMed,gnomAD
rs765076649	p.CysGlu932Ter	stop gained	-	NC_000004.12:g.5615456_5615457del	ExAC,gnomAD
NCI-TCGA novel	p.Glu933Val	missense variant	-	NC_000004.12:g.5615453T>A	NCI-TCGA
rs745801169	p.Gln935His	missense variant	-	NC_000004.12:g.5615446C>G	ExAC,gnomAD
rs1337669574	p.Gln935Lys	missense variant	-	NC_000004.12:g.5615448G>T	gnomAD
rs780913081	p.Ala936Thr	missense variant	-	NC_000004.12:g.5615445C>T	ExAC,gnomAD
rs1304806636	p.Ser937Phe	missense variant	-	NC_000004.12:g.5615441G>A	TOPMed
COSM4125183	p.Glu938Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5615439C>T	NCI-TCGA Cosmic
rs1281522539	p.Asp939Asn	missense variant	-	NC_000004.12:g.5615436C>T	TOPMed,gnomAD
rs751238643	p.Asp939Val	missense variant	-	NC_000004.12:g.5615435T>A	ExAC,gnomAD
rs758017642	p.Val941Leu	missense variant	-	NC_000004.12:g.5615430C>G	ExAC,gnomAD
rs1242116322	p.Val944Ile	missense variant	-	NC_000004.12:g.5584850C>T	gnomAD
rs1242116322	p.Val944Leu	missense variant	-	NC_000004.12:g.5584850C>G	gnomAD
rs369739673	p.Arg945Gln	missense variant	-	NC_000004.12:g.5584846C>T	ESP,ExAC,gnomAD
rs369739673	p.Arg945Leu	missense variant	-	NC_000004.12:g.5584846C>A	ESP,ExAC,gnomAD
rs1301855639	p.Arg945Ter	stop gained	-	NC_000004.12:g.5584847G>A	TOPMed,gnomAD
rs1301855639	p.Arg945Gly	missense variant	-	NC_000004.12:g.5584847G>C	TOPMed,gnomAD
rs1360376448	p.Gly946Asp	missense variant	-	NC_000004.12:g.5584843C>T	gnomAD
rs1418375862	p.Glu947Gly	missense variant	-	NC_000004.12:g.5584840T>C	gnomAD
rs545856107	p.Arg950Leu	missense variant	-	NC_000004.12:g.5584831C>A	ExAC,gnomAD
rs137852928	p.Arg950Trp	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5584832G>A	UniProt,dbSNP
VAR_017211	p.Arg950Trp	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5584832G>A	UniProt
rs137852928	p.Arg950Trp	missense variant	-	NC_000004.12:g.5584832G>A	ESP,ExAC,TOPMed,gnomAD
rs545856107	p.Arg950Gln	missense variant	-	NC_000004.12:g.5584831C>T	ExAC,gnomAD
RCV000003554	p.Arg950Trp	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5584832G>A	ClinVar
rs1383783171	p.Glu951Lys	missense variant	-	NC_000004.12:g.5584829C>T	gnomAD
rs1181440074	p.Glu951Asp	missense variant	-	NC_000004.12:g.5584827C>G	gnomAD
rs1473280312	p.Arg952Thr	missense variant	-	NC_000004.12:g.5584825C>G	gnomAD
rs1239277359	p.Val953Met	missense variant	-	NC_000004.12:g.5584823C>T	gnomAD
rs145786485	p.Arg955Leu	missense variant	-	NC_000004.12:g.5584816C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000363469	p.Arg955Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584816C>T	ClinVar
rs116502852	p.Arg955Trp	missense variant	-	NC_000004.12:g.5584817G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145786485	p.Arg955Gln	missense variant	-	NC_000004.12:g.5584816C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1286587616	p.Met956Val	missense variant	-	NC_000004.12:g.5584814T>C	gnomAD
rs199824570	p.Met956Ile	missense variant	-	NC_000004.12:g.5584812C>T	ExAC,TOPMed,gnomAD
rs1356938184	p.Ala958Val	missense variant	-	NC_000004.12:g.5584807G>A	gnomAD
rs1228531350	p.Gln959Leu	missense variant	-	NC_000004.12:g.5584804T>A	gnomAD
rs544432468	p.Glu960Ala	missense variant	-	NC_000004.12:g.5584801T>G	1000Genomes,ExAC,gnomAD
rs903682822	p.Glu960Asp	missense variant	-	NC_000004.12:g.5584800C>A	TOPMed
rs1043590599	p.Gly961Ter	stop gained	-	NC_000004.12:g.5584799C>A	TOPMed
NCI-TCGA novel	p.Gly961Arg	missense variant	-	NC_000004.12:g.5584799C>T	NCI-TCGA
rs748869122	p.Gly962Ala	missense variant	-	NC_000004.12:g.5584795C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly962Asp	missense variant	-	NC_000004.12:g.5584795C>T	NCI-TCGA
rs779407729	p.Gln965Ter	stop gained	-	NC_000004.12:g.5584787G>A	ExAC,TOPMed,gnomAD
rs145425340	p.Ser966Ter	stop gained	-	NC_000004.12:g.5584783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000765771	p.Ser966Leu	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5584783G>A	ClinVar
RCV000489134	p.Ser966Leu	missense variant	-	NC_000004.12:g.5584783G>A	ClinVar
rs145425340	p.Ser966Leu	missense variant	-	NC_000004.12:g.5584783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1183368980	p.Leu967Phe	missense variant	-	NC_000004.12:g.5584781G>A	TOPMed
rs1414565179	p.Leu967His	missense variant	-	NC_000004.12:g.5584780A>T	TOPMed
rs764554479	p.Val968Leu	missense variant	-	NC_000004.12:g.5584778C>G	ExAC,TOPMed,gnomAD
rs764554479	p.Val968Ile	missense variant	-	NC_000004.12:g.5584778C>T	ExAC,TOPMed,gnomAD
rs1159058208	p.Ala969Val	missense variant	-	NC_000004.12:g.5584774G>A	TOPMed
NCI-TCGA novel	p.Ala969Thr	missense variant	-	NC_000004.12:g.5584775C>T	NCI-TCGA
NCI-TCGA novel	p.Gln971Ter	stop gained	-	NC_000004.12:g.5584769G>A	NCI-TCGA
rs758773945	p.Phe972Ile	missense variant	-	NC_000004.12:g.5584766A>T	ExAC,gnomAD
rs752898085	p.Phe972Tyr	missense variant	-	NC_000004.12:g.5584765A>T	ExAC,gnomAD
rs759657816	p.Gln973His	missense variant	-	NC_000004.12:g.5584761C>A	ExAC,TOPMed,gnomAD
rs765539605	p.Gln973Leu	missense variant	-	NC_000004.12:g.5584762T>A	ExAC,gnomAD
rs573195320	p.Ala975Val	missense variant	-	NC_000004.12:g.5584756G>A	1000Genomes,ExAC,gnomAD
rs573195320	p.Ala975Glu	missense variant	-	NC_000004.12:g.5584756G>T	1000Genomes,ExAC,gnomAD
COSM1310138	p.Ser976Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584753G>C	NCI-TCGA Cosmic
rs773076172	p.Ser976Pro	missense variant	-	NC_000004.12:g.5584754A>G	ExAC,gnomAD
rs371489519	p.Arg977Gln	missense variant	-	NC_000004.12:g.5584750C>T	ESP,ExAC,TOPMed,gnomAD
rs140316127	p.Arg977Trp	missense variant	-	NC_000004.12:g.5584751G>A	ESP,ExAC,TOPMed,gnomAD
rs773985362	p.Val978Met	missense variant	-	NC_000004.12:g.5584748C>T	ExAC,gnomAD
rs768401658	p.Thr979Pro	missense variant	-	NC_000004.12:g.5584745T>G	ExAC,gnomAD
rs1233479114	p.Glu980Val	missense variant	-	NC_000004.12:g.5584741T>A	gnomAD
rs755614931	p.Glu980Lys	missense variant	-	NC_000004.12:g.5584742C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu980Asp	missense variant	-	NC_000004.12:g.5584740C>G	NCI-TCGA
rs767378795	p.Thr981Ile	missense variant	-	NC_000004.12:g.5584738G>A	ExAC,TOPMed,gnomAD
rs767378795	p.Thr981Ser	missense variant	-	NC_000004.12:g.5584738G>C	ExAC,TOPMed,gnomAD
rs199785101	p.Thr981Ser	missense variant	-	NC_000004.12:g.5584739T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs536732931	p.Ser983Leu	missense variant	-	NC_000004.12:g.5584732G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758946503	p.Ser983Pro	missense variant	-	NC_000004.12:g.5584733A>G	ExAC,TOPMed,gnomAD
rs536732931	p.Ser983Trp	missense variant	-	NC_000004.12:g.5584732G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1430245	p.Ala984Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584729G>T	NCI-TCGA Cosmic
rs753942333	p.Tyr985Ser	missense variant	-	NC_000004.12:g.5584726T>G	ExAC,TOPMed,gnomAD
rs766463527	p.Thr986Ser	missense variant	-	NC_000004.12:g.5584724T>A	ExAC,gnomAD
rs750392808	p.Ala987Thr	missense variant	-	NC_000004.12:g.5584721C>T	ExAC,TOPMed,gnomAD
rs1266534048	p.Leu989Phe	missense variant	-	NC_000004.12:g.5584715G>A	gnomAD
rs1191735286	p.Leu989Pro	missense variant	-	NC_000004.12:g.5584714A>G	gnomAD
rs1266534048	p.Leu989Ile	missense variant	-	NC_000004.12:g.5584715G>T	gnomAD
NCI-TCGA novel	p.Ser990Arg	missense variant	-	NC_000004.12:g.5584710G>C	NCI-TCGA
COSM3696680	p.Gln992Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584705T>C	NCI-TCGA Cosmic
rs761633806	p.Asp993Glu	missense variant	-	NC_000004.12:g.5584701G>C	ExAC,gnomAD
VAR_035934	p.Leu994Val	Missense	-	-	UniProt
rs548381022	p.Leu995Val	missense variant	-	NC_000004.12:g.5584697G>C	1000Genomes,ExAC,gnomAD
RCV000267482	p.Leu995Val	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584697G>C	ClinVar
rs548381022	p.Leu995Phe	missense variant	-	NC_000004.12:g.5584697G>A	1000Genomes,ExAC,gnomAD
rs762668930	p.Glu998Lys	missense variant	-	NC_000004.12:g.5584688C>T	ExAC,TOPMed,gnomAD
rs769447158	p.Glu998Asp	missense variant	-	NC_000004.12:g.5584686C>A	ExAC,TOPMed,gnomAD
rs762668930	p.Glu998Ter	stop gained	-	NC_000004.12:g.5584688C>A	ExAC,TOPMed,gnomAD
rs1206851175	p.Glu998Val	missense variant	-	NC_000004.12:g.5584687T>A	TOPMed
rs1301138653	p.Leu999Pro	missense variant	-	NC_000004.12:g.5584684A>G	gnomAD
rs374186161	p.Ser1000Asn	missense variant	-	NC_000004.12:g.5584681C>T	ESP,ExAC,TOPMed,gnomAD
rs772696369	p.Ala1001Ser	missense variant	-	NC_000004.12:g.5584679C>A	ExAC,gnomAD
rs1238592664	p.Ala1001Val	missense variant	-	NC_000004.12:g.5584678G>A	TOPMed
rs1474034109	p.Ser1002Pro	missense variant	-	NC_000004.12:g.5584676A>G	TOPMed
rs555666020	p.Glu1003Lys	missense variant	-	NC_000004.12:g.5584673C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779341427	p.Met1004Ile	missense variant	-	NC_000004.12:g.5584668C>T	ExAC
NCI-TCGA novel	p.Thr1006Ile	missense variant	-	NC_000004.12:g.5584663G>A	NCI-TCGA
COSM4125170	p.Lys1007Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584660T>C	NCI-TCGA Cosmic
rs727503920	p.Lys1007Thr	missense variant	-	NC_000004.12:g.5584660T>G	ExAC,gnomAD
RCV000153205	p.Lys1007Thr	missense variant	-	NC_000004.12:g.5584660T>G	ClinVar
rs60809236	p.Ser1008Leu	missense variant	-	NC_000004.12:g.5584657G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs60809236	p.Ser1008Ter	stop gained	-	NC_000004.12:g.5584657G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000360037	p.Ser1008Leu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584657G>A	ClinVar
rs1434900133	p.Cys1010Phe	missense variant	-	NC_000004.12:g.5584651C>A	TOPMed,gnomAD
rs751382770	p.Ile1013Met	missense variant	-	NC_000004.12:g.5584641G>C	ExAC,gnomAD
rs75829835	p.Leu1014Val	missense variant	-	NC_000004.12:g.5584640G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762602210	p.Leu1014Gln	missense variant	-	NC_000004.12:g.5584639A>T	ExAC,gnomAD
RCV000302898	p.Leu1014Val	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584640G>C	ClinVar
rs769623217	p.Ser1016Leu	missense variant	-	NC_000004.12:g.5584633G>A	ExAC,TOPMed,gnomAD
rs769623217	p.Ser1016Trp	missense variant	-	NC_000004.12:g.5584633G>C	ExAC,TOPMed,gnomAD
rs1256088223	p.His1017Tyr	missense variant	-	NC_000004.12:g.5584631G>A	gnomAD
rs573448772	p.Arg1019Leu	missense variant	-	NC_000004.12:g.5584624C>A	ExAC,TOPMed,gnomAD
RCV000393678	p.Arg1019Trp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584625G>A	ClinVar
rs573448772	p.Arg1019Gln	missense variant	-	NC_000004.12:g.5584624C>T	ExAC,TOPMed,gnomAD
rs139610006	p.Arg1019Trp	missense variant	-	NC_000004.12:g.5584625G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1476518508	p.Glu1020Lys	missense variant	-	NC_000004.12:g.5576454C>T	gnomAD
COSM4858945	p.Glu1020Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576452C>G	NCI-TCGA Cosmic
rs772749481	p.Leu1021Ile	missense variant	-	NC_000004.12:g.5576451G>T	ExAC,TOPMed,gnomAD
rs772749481	p.Leu1021Phe	missense variant	-	NC_000004.12:g.5576451G>A	ExAC,TOPMed,gnomAD
rs1193563140	p.Gln1022Pro	missense variant	-	NC_000004.12:g.5576447T>G	gnomAD
rs769090909	p.Glu1023Gln	missense variant	-	NC_000004.12:g.5576445C>G	ExAC,gnomAD
rs749779764	p.Glu1025Gly	missense variant	-	NC_000004.12:g.5576438T>C	ExAC,gnomAD
rs775899047	p.Leu1028Met	missense variant	-	NC_000004.12:g.5576430G>T	ExAC,gnomAD
rs779632519	p.Glu1029Gly	missense variant	-	NC_000004.12:g.5576426T>C	ExAC,TOPMed,gnomAD
rs1235373564	p.Glu1029Ter	stop gained	-	NC_000004.12:g.5576427C>A	gnomAD
RCV000338707	p.Gln1031Glu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5576421G>C	ClinVar
rs370438593	p.Gln1031Lys	missense variant	-	NC_000004.12:g.5576421G>T	ESP,ExAC,TOPMed,gnomAD
rs370438593	p.Gln1031Glu	missense variant	-	NC_000004.12:g.5576421G>C	ESP,ExAC,TOPMed,gnomAD
rs370438593	p.Gln1031Ter	stop gained	-	NC_000004.12:g.5576421G>A	ESP,ExAC,TOPMed,gnomAD
rs377393052	p.Gln1034His	missense variant	-	NC_000004.12:g.5576410C>A	ESP,ExAC,TOPMed,gnomAD
rs752619592	p.Gln1035Arg	missense variant	-	NC_000004.12:g.5576408T>C	ExAC,gnomAD
rs765141241	p.Glu1036Gln	missense variant	-	NC_000004.12:g.5576406C>G	ExAC,gnomAD
rs765141241	p.Glu1036Lys	missense variant	-	NC_000004.12:g.5576406C>T	ExAC,gnomAD
COSM4923595	p.Ala1037Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576402G>A	NCI-TCGA Cosmic
COSM1430242	p.Ala1037Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576403C>T	NCI-TCGA Cosmic
rs754772002	p.Ala1038Thr	missense variant	-	NC_000004.12:g.5576400C>T	ExAC,gnomAD
rs376133710	p.Gln1041Ter	stop gained	-	NC_000004.12:g.5576391G>A	ESP,ExAC,TOPMed,gnomAD
RCV000516007	p.Gln1041Ter	nonsense	Type IV short rib polydactyly syndrome (SRTD12)	NC_000004.12:g.5576391G>A	ClinVar
rs1422287117	p.Gln1042Ter	stop gained	-	NC_000004.12:g.5576388G>A	TOPMed,gnomAD
rs1422287117	p.Gln1042Glu	missense variant	-	NC_000004.12:g.5576388G>C	TOPMed,gnomAD
rs765989585	p.Ala1043Val	missense variant	-	NC_000004.12:g.5576384G>A	ExAC,gnomAD
rs933258800	p.Leu1044Arg	missense variant	-	NC_000004.12:g.5576381A>C	TOPMed,gnomAD
rs750108569	p.Ala1045Val	missense variant	-	NC_000004.12:g.5576378G>A	ExAC,gnomAD
RCV000671919	p.Ala1045Val	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576378G>A	ClinVar
rs73074138	p.Ser1046Arg	missense variant	-	NC_000004.12:g.5576374G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1315238843	p.Ser1046Ile	missense variant	-	NC_000004.12:g.5576375C>A	TOPMed
rs1215775221	p.Ser1046Cys	missense variant	-	NC_000004.12:g.5576376T>A	gnomAD
RCV000300182	p.Ser1046Arg	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5576374G>C	ClinVar
rs886037764	p.Trp1047Cys	missense variant	-	NC_000004.12:g.5576371C>A	TOPMed,gnomAD
rs200560762	p.Trp1047Ter	stop gained	-	NC_000004.12:g.5576372C>T	TOPMed
RCV000257943	p.Trp1047Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576371C>T	ClinVar
rs886037764	p.Trp1047Ter	stop gained	-	NC_000004.12:g.5576371C>T	TOPMed,gnomAD
COSM4125168	p.Gln1049Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5576367G>A	NCI-TCGA Cosmic
rs937321683	p.Trp1050Arg	missense variant	-	NC_000004.12:g.5576364A>G	TOPMed,gnomAD
rs1272934589	p.Trp1050Cys	missense variant	-	NC_000004.12:g.5576362C>G	gnomAD
rs775917298	p.Val1051Met	missense variant	-	NC_000004.12:g.5576361C>T	ExAC,gnomAD
COSM4125166	p.Ala1052Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576358C>T	NCI-TCGA Cosmic
rs746187559	p.Asp1053Asn	missense variant	-	NC_000004.12:g.5576355C>T	ExAC,TOPMed,gnomAD
rs777020546	p.Asp1053Glu	missense variant	-	NC_000004.12:g.5576353A>T	ExAC,TOPMed,gnomAD
RCV000393680	p.Asp1053Asn	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5576355C>T	ClinVar
rs927337135	p.Gly1054Arg	missense variant	-	NC_000004.12:g.5576352C>T	TOPMed
rs771104241	p.Gly1054Val	missense variant	-	NC_000004.12:g.5576351C>A	ExAC,TOPMed,gnomAD
rs148241555	p.Gly1056Arg	missense variant	-	NC_000004.12:g.5576346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171278762	p.Gly1056Ala	missense variant	-	NC_000004.12:g.5576345C>G	gnomAD
COSM4861709	p.Asn1059Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576336T>C	NCI-TCGA Cosmic
rs779884599	p.Glu1060Lys	missense variant	-	NC_000004.12:g.5576334C>T	ExAC,TOPMed,gnomAD
rs779884599	p.Glu1060Gln	missense variant	-	NC_000004.12:g.5576334C>G	ExAC,TOPMed,gnomAD
rs983228989	p.Pro1061Leu	missense variant	-	NC_000004.12:g.5576330G>A	gnomAD
rs983228989	p.Pro1061His	missense variant	-	NC_000004.12:g.5576330G>T	gnomAD
rs1237759012	p.Gly1062Trp	missense variant	-	NC_000004.12:g.5576328C>A	gnomAD
COSM1056122	p.Glu1063Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576323C>A	NCI-TCGA Cosmic
rs913027453	p.Val1064Leu	missense variant	-	NC_000004.12:g.5576322C>A	TOPMed,gnomAD
rs371142214	p.Asp1065His	missense variant	-	NC_000004.12:g.5576319C>G	ESP,ExAC,TOPMed,gnomAD
COSM1310137	p.Glu1067Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576313C>T	NCI-TCGA Cosmic
rs767026508	p.Arg1068Gly	missense variant	-	NC_000004.12:g.5576310T>C	ExAC,gnomAD
rs144167138	p.Gln1069Ter	stop gained	-	NC_000004.12:g.5576307G>A	ESP,ExAC
rs753230285	p.Thr1072Ile	missense variant	-	NC_000004.12:g.5576297G>A	ExAC,gnomAD
rs1345687316	p.Thr1072Ala	missense variant	-	NC_000004.12:g.5576298T>C	gnomAD
rs765770073	p.Val1073Leu	missense variant	-	NC_000004.12:g.5576295C>G	ExAC,gnomAD
rs149527560	p.Val1073Ala	missense variant	-	NC_000004.12:g.5576294A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771263878	p.Leu1074Pro	missense variant	-	NC_000004.12:g.5576291A>G	ExAC,TOPMed,gnomAD
COSM4125164	p.Leu1074Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576292G>C	NCI-TCGA Cosmic
rs182888222	p.Ala1077Thr	missense variant	-	NC_000004.12:g.5576283C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs182888222	p.Ala1077Ser	missense variant	-	NC_000004.12:g.5576283C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748279631	p.Ser1079Arg	missense variant	-	NC_000004.12:g.5576275G>C	ExAC,TOPMed,gnomAD
rs925847131	p.Ser1079Gly	missense variant	-	NC_000004.12:g.5576277T>C	TOPMed
rs779116122	p.Lys1080Asn	missense variant	-	NC_000004.12:g.5576272C>G	ExAC,TOPMed,gnomAD
rs768774314	p.Ser1081Thr	missense variant	-	NC_000004.12:g.5576270C>G	ExAC,gnomAD
rs754239192	p.Gln1082Arg	missense variant	-	NC_000004.12:g.5576267T>C	gnomAD
rs749243480	p.Thr1083Ile	missense variant	-	NC_000004.12:g.5576264G>A	ExAC,TOPMed,gnomAD
rs755880828	p.Leu1084Ter	stop gained	-	NC_000004.12:g.5576261A>T	ExAC,TOPMed,gnomAD
rs1471320329	p.Leu1085Pro	missense variant	-	NC_000004.12:g.5576258A>G	gnomAD
rs780779477	p.His1088Leu	missense variant	-	NC_000004.12:g.5576249T>A	ExAC,TOPMed,gnomAD
COSM4858543	p.His1088Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576250G>T	NCI-TCGA Cosmic
rs780779477	p.His1088Arg	missense variant	-	NC_000004.12:g.5576249T>C	ExAC,TOPMed,gnomAD
RCV000799858	p.Gln1089Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576247G>A	ClinVar
rs137852927	p.Gln1089Ter	stop gained	-	NC_000004.12:g.5576247G>A	ESP,ExAC,TOPMed,gnomAD
RCV000003553	p.Gln1089Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576247G>A	ClinVar
rs140506709	p.Gln1090Pro	missense variant	-	NC_000004.12:g.5576243T>G	ESP,ExAC,TOPMed,gnomAD
rs1225107165	p.Cys1091Tyr	missense variant	-	NC_000004.12:g.5576240C>T	gnomAD
NCI-TCGA novel	p.Cys1091Phe	missense variant	-	NC_000004.12:g.5576240C>A	NCI-TCGA
NCI-TCGA novel	p.Cys1091Trp	missense variant	-	NC_000004.12:g.5574772A>C	NCI-TCGA
rs762129092	p.Leu1092Met	missense variant	-	NC_000004.12:g.5574771A>T	ExAC,TOPMed,gnomAD
rs1310133768	p.Arg1093Lys	missense variant	-	NC_000004.12:g.5574767C>T	TOPMed
NCI-TCGA novel	p.Glu1095Lys	missense variant	-	NC_000004.12:g.5574762C>T	NCI-TCGA
rs150215092	p.Gln1097Glu	missense variant	-	NC_000004.12:g.5574756G>C	ESP,ExAC,TOPMed,gnomAD
COSM4393548	p.Gln1097Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5574755T>C	NCI-TCGA Cosmic
rs763047884	p.Ser1099Arg	missense variant	-	NC_000004.12:g.5574748A>C	ExAC,TOPMed,gnomAD
rs1424190634	p.Val1100Ile	missense variant	-	NC_000004.12:g.5574747C>T	gnomAD
rs141058692	p.Val1101Met	missense variant	-	NC_000004.12:g.5574744C>T	ESP,ExAC,TOPMed,gnomAD
COSM1056121	p.Asp1104Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5574733G>T	NCI-TCGA Cosmic
rs745789473	p.Leu1105Trp	missense variant	-	NC_000004.12:g.5574731A>C	ExAC,gnomAD
rs368739188	p.Met1109Val	missense variant	-	NC_000004.12:g.5574720T>C	ESP,ExAC,TOPMed,gnomAD
rs368739188	p.Met1109Leu	missense variant	-	NC_000004.12:g.5574720T>A	ESP,ExAC,TOPMed,gnomAD
COSM1056120	p.Ala1111Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5574713G>C	NCI-TCGA Cosmic
rs1217438048	p.Ala1111Val	missense variant	-	NC_000004.12:g.5574713G>A	gnomAD
rs777368641	p.Thr1113Asn	missense variant	-	NC_000004.12:g.5574707G>T	ExAC,gnomAD
rs1216839016	p.Ala1115Glu	missense variant	-	NC_000004.12:g.5574701G>T	gnomAD
rs1023226557	p.Cys1118Gly	missense variant	-	NC_000004.12:g.5574693A>C	TOPMed
rs1293374224	p.Ser1119Asn	missense variant	-	NC_000004.12:g.5574689C>T	gnomAD
rs1419370853	p.Glu1121Ala	missense variant	-	NC_000004.12:g.5568639T>G	gnomAD
COSM6167405	p.Glu1121Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5568639T>A	NCI-TCGA Cosmic
rs747753303	p.Leu1122Pro	missense variant	-	NC_000004.12:g.5568636A>G	ExAC,TOPMed,gnomAD
rs1280192897	p.Ala1125Val	missense variant	-	NC_000004.12:g.5568627G>A	gnomAD
rs1482655163	p.Ala1125Ser	missense variant	-	NC_000004.12:g.5568628C>A	gnomAD
rs201735294	p.Ser1126Leu	missense variant	-	NC_000004.12:g.5568624G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201735294	p.Ser1126Ter	stop gained	-	NC_000004.12:g.5568624G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432103795	p.Tyr1127Cys	missense variant	-	NC_000004.12:g.5568621T>C	TOPMed
rs199652320	p.Tyr1127His	missense variant	-	NC_000004.12:g.5568622A>G	TOPMed
rs200105743	p.Leu1128Met	missense variant	-	NC_000004.12:g.5568619G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1336630062	p.Ala1129Thr	missense variant	-	NC_000004.12:g.5568616C>T	gnomAD
rs758710828	p.Ala1129Val	missense variant	-	NC_000004.12:g.5568615G>A	ExAC,gnomAD
rs758710828	p.Ala1129Glu	missense variant	-	NC_000004.12:g.5568615G>T	ExAC,gnomAD
rs765383872	p.Met1131Val	missense variant	-	NC_000004.12:g.5568610T>C	ExAC,gnomAD
rs199838475	p.Ala1132Val	missense variant	-	NC_000004.12:g.5568606G>A	ExAC,TOPMed,gnomAD
rs1284197690	p.Met1133Val	missense variant	-	NC_000004.12:g.5568604T>C	TOPMed
NCI-TCGA novel	p.Met1133Lys	missense variant	-	NC_000004.12:g.5568603A>T	NCI-TCGA
rs1358384272	p.Val1134Met	missense variant	-	NC_000004.12:g.5568601C>T	gnomAD
rs1157866730	p.Pro1135Leu	missense variant	-	NC_000004.12:g.5568597G>A	gnomAD
rs567949398	p.Gly1136Arg	missense variant	-	NC_000004.12:g.5568595C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs567949398	p.Gly1136Arg	missense variant	-	NC_000004.12:g.5568595C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000176128	p.Gly1136Ter	frameshift	-	NC_000004.12:g.5568593_5568599del	ClinVar
RCV000515904	p.Gly1136Ter	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5568593_5568599del	ClinVar
rs771699143	p.Ala1137Val	missense variant	-	NC_000004.12:g.5568591G>A	ExAC,TOPMed,gnomAD
rs773126892	p.Ala1137Thr	missense variant	-	NC_000004.12:g.5568592C>T	ExAC,TOPMed,gnomAD
rs771699143	p.Ala1137Asp	missense variant	-	NC_000004.12:g.5568591G>T	ExAC,TOPMed,gnomAD
rs182298453	p.Thr1138Met	missense variant	-	NC_000004.12:g.5568588G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000293284	p.Thr1138Met	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5568588G>A	ClinVar
rs779684008	p.Arg1140Pro	missense variant	-	NC_000004.12:g.5568582C>G	ExAC,TOPMed,gnomAD
rs779684008	p.Arg1140His	missense variant	-	NC_000004.12:g.5568582C>T	ExAC,TOPMed,gnomAD
rs376225141	p.Arg1140Cys	missense variant	-	NC_000004.12:g.5568583G>A	ESP,ExAC,TOPMed,gnomAD
rs568630456	p.Arg1141Trp	missense variant	-	NC_000004.12:g.5568580G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778201846	p.Arg1141Leu	missense variant	-	NC_000004.12:g.5568579C>A	ExAC,TOPMed,gnomAD
rs778201846	p.Arg1141Gln	missense variant	-	NC_000004.12:g.5568579C>T	ExAC,TOPMed,gnomAD
rs778201846	p.Arg1141Pro	missense variant	-	NC_000004.12:g.5568579C>G	ExAC,TOPMed,gnomAD
rs977811297	p.Leu1142Pro	missense variant	-	NC_000004.12:g.5568576A>G	TOPMed
rs200609501	p.Ser1144Asn	missense variant	-	NC_000004.12:g.5568570C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1416506516	p.Val1145Leu	missense variant	-	NC_000004.12:g.5568568C>A	gnomAD
rs1338397099	p.Val1146Ile	missense variant	-	NC_000004.12:g.5568565C>T	TOPMed,gnomAD
rs1444386098	p.Pro1148Arg	missense variant	-	NC_000004.12:g.5568558G>C	gnomAD
rs1382533822	p.Thr1149Ala	missense variant	-	NC_000004.12:g.5568556T>C	gnomAD
rs779047633	p.Thr1149Ile	missense variant	-	NC_000004.12:g.5568555G>A	ExAC,gnomAD
rs755174737	p.Ala1150Ser	missense variant	-	NC_000004.12:g.5568553C>A	ExAC,TOPMed,gnomAD
rs1417914050	p.Ser1151Leu	missense variant	-	NC_000004.12:g.5568549G>A	gnomAD
rs1166534919	p.Gln1152Ter	stop gained	-	NC_000004.12:g.5568547G>A	gnomAD
RCV000669730	p.Pro1153Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5568525_5568543del	ClinVar
rs915006493	p.Gln1154Ter	stop gained	-	NC_000004.12:g.5568541G>A	TOPMed
rs766443374	p.Ala1157Val	missense variant	-	NC_000004.12:g.5568531G>A	ExAC,gnomAD
rs1447886873	p.Leu1159Met	missense variant	-	NC_000004.12:g.5568526G>T	gnomAD
rs750271891	p.Asp1160Asn	missense variant	-	NC_000004.12:g.5568523C>T	ExAC,gnomAD
rs750271891	p.Asp1160Tyr	missense variant	-	NC_000004.12:g.5568523C>A	ExAC,gnomAD
rs145071652	p.Ser1161Leu	missense variant	-	NC_000004.12:g.5568519G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1235159260	p.Ala1162Thr	missense variant	-	NC_000004.12:g.5568517C>T	gnomAD
rs774164481	p.Thr1163Ile	missense variant	-	NC_000004.12:g.5568513G>A	ExAC,TOPMed,gnomAD
rs530451522	p.Glu1164Lys	missense variant	-	NC_000004.12:g.5568511C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs530451522	p.Glu1164Ter	stop gained	-	NC_000004.12:g.5568511C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1165Ile	missense variant	-	NC_000004.12:g.5568507C>A	NCI-TCGA
NCI-TCGA novel	p.His1166Leu	missense variant	-	NC_000004.12:g.5568504T>A	NCI-TCGA
rs775202977	p.Val1167Met	missense variant	-	NC_000004.12:g.5568502C>T	ExAC,gnomAD
rs1298975983	p.Val1167Ala	missense variant	-	NC_000004.12:g.5568501A>G	gnomAD
rs769359253	p.Asp1168Gly	missense variant	-	NC_000004.12:g.5568498T>C	ExAC,gnomAD
rs1394706966	p.Asp1168Asn	missense variant	-	NC_000004.12:g.5568499C>T	gnomAD
RCV000385270	p.His1169Tyr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5568496G>A	ClinVar
rs747562782	p.His1169Tyr	missense variant	-	NC_000004.12:g.5568496G>A	ExAC,TOPMed,gnomAD
rs1398941377	p.His1169Arg	missense variant	-	NC_000004.12:g.5568495T>C	gnomAD
rs12511039	p.His1169Gln	missense variant	-	NC_000004.12:g.5568494G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748514374	p.Ala1170Ser	missense variant	-	NC_000004.12:g.5568493C>A	ExAC,TOPMed,gnomAD
rs1359800892	p.Ala1170Val	missense variant	-	NC_000004.12:g.5568492G>A	gnomAD
rs748514374	p.Ala1170Thr	missense variant	-	NC_000004.12:g.5568493C>T	ExAC,TOPMed,gnomAD
rs1375104670	p.Ala1171Thr	missense variant	-	NC_000004.12:g.5568490C>T	TOPMed,gnomAD
rs755260649	p.Glu1172Asp	missense variant	-	NC_000004.12:g.5568485C>A	ExAC,gnomAD
rs779239935	p.Glu1172Lys	missense variant	-	NC_000004.12:g.5568487C>T	ExAC,TOPMed,gnomAD
rs756096100	p.Asp1174Tyr	missense variant	-	NC_000004.12:g.5568481C>A	ExAC,gnomAD
rs756096100	p.Asp1174Asn	missense variant	-	NC_000004.12:g.5568481C>T	ExAC,gnomAD
rs756096100	p.Asp1174His	missense variant	-	NC_000004.12:g.5568481C>G	ExAC,gnomAD
rs750404150	p.Asp1174Glu	missense variant	-	NC_000004.12:g.5568479A>T	ExAC,TOPMed,gnomAD
rs931547972	p.Gly1175Ala	missense variant	-	NC_000004.12:g.5568477C>G	TOPMed,gnomAD
rs931547972	p.Gly1175Val	missense variant	-	NC_000004.12:g.5568477C>A	TOPMed,gnomAD
rs375910289	p.Gly1176Arg	missense variant	-	NC_000004.12:g.5568475C>T	ESP,ExAC,TOPMed,gnomAD
rs544632500	p.Ala1177Val	missense variant	-	NC_000004.12:g.5568471G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1371469231	p.Gln1179Arg	missense variant	-	NC_000004.12:g.5568465T>C	gnomAD
rs1336547993	p.Asp1181Asn	missense variant	-	NC_000004.12:g.5568460C>T	TOPMed
rs144511301	p.Val1182Leu	missense variant	-	NC_000004.12:g.5568457C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759011343	p.Val1182Ala	missense variant	-	NC_000004.12:g.5568456A>G	ExAC,gnomAD
rs144511301	p.Val1182Met	missense variant	-	NC_000004.12:g.5568457C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000497426	p.Val1182Leu	missense variant	-	NC_000004.12:g.5568457C>A	ClinVar
rs1376155432	p.Arg1184Ser	missense variant	-	NC_000004.12:g.5568449C>A	TOPMed
rs1410992760	p.Arg1184Lys	missense variant	-	NC_000004.12:g.5568450C>T	gnomAD
rs772517447	p.Arg1185Gln	missense variant	-	NC_000004.12:g.5568447C>T	ExAC,TOPMed,gnomAD
rs545528367	p.Arg1185Trp	missense variant	-	NC_000004.12:g.5568448G>A	1000Genomes,ExAC,gnomAD
rs76523157	p.Lys1187Asn	missense variant	-	NC_000004.12:g.5565356T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1415723101	p.His1188Gln	missense variant	-	NC_000004.12:g.5565353G>C	gnomAD
rs763892029	p.Ser1190Arg	missense variant	-	NC_000004.12:g.5565347G>C	TOPMed,gnomAD
rs1404524694	p.Trp1191Cys	missense variant	-	NC_000004.12:g.5565344C>G	TOPMed,gnomAD
rs1404524694	p.Trp1191Ter	stop gained	-	NC_000004.12:g.5565344C>T	TOPMed,gnomAD
rs1346353134	p.Gln1193His	missense variant	-	NC_000004.12:g.5565338T>G	gnomAD
rs746963511	p.Leu1195Ser	missense variant	-	NC_000004.12:g.5565333A>G	ExAC,TOPMed,gnomAD
rs777899153	p.Asp1196Gly	missense variant	-	NC_000004.12:g.5565330T>C	ExAC,TOPMed,gnomAD
RCV000669199	p.Arg1200Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5565319G>A	ClinVar
COSM1310136	p.Arg1200Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5565318C>G	NCI-TCGA Cosmic
rs1305301849	p.Arg1200Ter	stop gained	-	NC_000004.12:g.5565319G>A	TOPMed
rs1217493048	p.Arg1200Gln	missense variant	-	NC_000004.12:g.5565318C>T	gnomAD
rs1449555572	p.Gly1201Glu	missense variant	-	NC_000004.12:g.5565315C>T	gnomAD
rs752599166	p.Asp1202His	missense variant	-	NC_000004.12:g.5565313C>G	ExAC,gnomAD
rs1213729710	p.Asp1202Gly	missense variant	-	NC_000004.12:g.5565312T>C	gnomAD
rs752599166	p.Asp1202Asn	missense variant	-	NC_000004.12:g.5565313C>T	ExAC,gnomAD
rs1486452636	p.Ile1204Val	missense variant	-	NC_000004.12:g.5565307T>C	TOPMed
rs753476996	p.Arg1206Lys	missense variant	-	NC_000004.12:g.5565300C>T	ExAC,gnomAD
rs765832490	p.Gly1207Ala	missense variant	-	NC_000004.12:g.5565297C>G	ExAC,gnomAD
rs1380869200	p.Glu1209Gly	missense variant	-	NC_000004.12:g.5565291T>C	gnomAD
RCV000549564	p.Leu1212Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5565283delinsTC	ClinVar
rs1392499941	p.Leu1212Val	missense variant	-	NC_000004.12:g.5565283G>C	gnomAD
COSM4125158	p.Trp1213Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5565278C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1213Ter	stop gained	-	NC_000004.12:g.5565278C>T	NCI-TCGA
rs139577475	p.Arg1215His	missense variant	-	NC_000004.12:g.5565273C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763433901	p.Arg1215Gly	missense variant	-	NC_000004.12:g.5565274G>C	ExAC,TOPMed,gnomAD
rs763433901	p.Arg1215Cys	missense variant	-	NC_000004.12:g.5565274G>A	ExAC,TOPMed,gnomAD
RCV000381754	p.Arg1215Cys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5565274G>A	ClinVar
rs760612645	p.Lys1216Gln	missense variant	-	NC_000004.12:g.5565271T>G	gnomAD
NCI-TCGA novel	p.Lys1216Ter	stop gained	-	NC_000004.12:g.5565271T>A	NCI-TCGA
COSM1056118	p.Arg1217Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5565267C>A	NCI-TCGA Cosmic
rs1476936539	p.Arg1217Thr	missense variant	-	NC_000004.12:g.5565267C>G	gnomAD
rs369739594	p.Gln1219Ter	stop gained	-	NC_000004.12:g.5565262G>A	ESP,ExAC,gnomAD
RCV000669358	p.Ser1220Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5563115del	ClinVar
rs749154271	p.Ile1221Met	missense variant	-	NC_000004.12:g.5563112T>C	ExAC,TOPMed,gnomAD
rs768449181	p.Ile1221Thr	missense variant	-	NC_000004.12:g.5563113A>G	ExAC
NCI-TCGA novel	p.Thr1225Ala	missense variant	-	NC_000004.12:g.5563102T>C	NCI-TCGA
rs367680967	p.Cys1226Arg	missense variant	-	NC_000004.12:g.5563099A>G	ESP,ExAC,TOPMed,gnomAD
rs745453932	p.Cys1226Trp	missense variant	-	NC_000004.12:g.5563097A>C	ExAC,gnomAD
rs1374591195	p.Leu1227Val	missense variant	-	NC_000004.12:g.5563096G>C	gnomAD
rs780693648	p.Leu1227Arg	missense variant	-	NC_000004.12:g.5563095A>C	ExAC,gnomAD
rs1436377016	p.Pro1228Arg	missense variant	-	NC_000004.12:g.5563092G>C	gnomAD
rs756707642	p.Leu1229Phe	missense variant	-	NC_000004.12:g.5563090G>A	ExAC,gnomAD
rs756707642	p.Leu1229Val	missense variant	-	NC_000004.12:g.5563090G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1229Pro	missense variant	-	NC_000004.12:g.5563089A>G	NCI-TCGA
rs1409601310	p.Glu1231Asp	missense variant	-	NC_000004.12:g.5563082C>G	gnomAD
NCI-TCGA novel	p.Glu1231Lys	missense variant	-	NC_000004.12:g.5563084C>T	NCI-TCGA
rs150551872	p.Arg1232Ser	missense variant	-	NC_000004.12:g.5563079C>A	ESP,ExAC,TOPMed,gnomAD
rs755428872	p.Met1233Val	missense variant	-	NC_000004.12:g.5563078T>C	ExAC,gnomAD
rs375566943	p.Ile1234Met	missense variant	-	NC_000004.12:g.5563073T>C	ESP,ExAC,TOPMed,gnomAD
RCV000507345	p.Ile1234Met	missense variant	-	NC_000004.12:g.5563073T>C	ClinVar
RCV000176335	p.Phe1235Leu	missense variant	-	NC_000004.12:g.5563072A>G	ClinVar
rs794727367	p.Phe1235Leu	missense variant	-	NC_000004.12:g.5563072A>G	gnomAD
rs766784641	p.Phe1235Ser	missense variant	-	NC_000004.12:g.5563071A>G	ExAC,gnomAD
rs794727367	p.Phe1235Val	missense variant	-	NC_000004.12:g.5563072A>C	gnomAD
NCI-TCGA novel	p.Phe1235SerPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5563071A>-	NCI-TCGA
NCI-TCGA novel	p.Ser1236Tyr	missense variant	-	NC_000004.12:g.5563068G>T	NCI-TCGA
COSM6167407	p.Gly1237Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5563066C>G	NCI-TCGA Cosmic
rs760992317	p.Lys1238Arg	missense variant	-	NC_000004.12:g.5563062T>C	ExAC,gnomAD
rs1259124504	p.Gly1239Arg	missense variant	-	NC_000004.12:g.5563060C>G	gnomAD
rs773522883	p.Ser1240Ile	missense variant	-	NC_000004.12:g.5563056C>A	ExAC,TOPMed,gnomAD
rs1399603571	p.Ser1240Arg	missense variant	-	NC_000004.12:g.5563057T>G	TOPMed
rs773522883	p.Ser1240Thr	missense variant	-	NC_000004.12:g.5563056C>G	ExAC,TOPMed,gnomAD
rs1276820671	p.Trp1241Cys	missense variant	-	NC_000004.12:g.5563052C>G	TOPMed,gnomAD
rs1301707502	p.Pro1242Leu	missense variant	-	NC_000004.12:g.5563050G>A	TOPMed
rs761996945	p.His1243Tyr	missense variant	-	NC_000004.12:g.5563048G>A	ExAC,gnomAD
rs1313437564	p.Leu1244Val	missense variant	-	NC_000004.12:g.5563045G>C	gnomAD
NCI-TCGA novel	p.Glu1247GlyPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5563037_5563038insG	NCI-TCGA
rs1287911899	p.Pro1248Arg	missense variant	-	NC_000004.12:g.5563032G>C	gnomAD
NCI-TCGA novel	p.Pro1248Ser	missense variant	-	NC_000004.12:g.5563033G>A	NCI-TCGA
rs575315126	p.Ile1249Leu	missense variant	-	NC_000004.12:g.5563030T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200968626	p.Ile1249Thr	missense variant	-	NC_000004.12:g.5563029A>G	1000Genomes,gnomAD
NCI-TCGA novel	p.Ile1249Asn	missense variant	-	NC_000004.12:g.5563029A>T	NCI-TCGA
rs1290612286	p.Glu1251Val	missense variant	-	NC_000004.12:g.5563023T>A	TOPMed
rs1189285249	p.Glu1251Asp	missense variant	-	NC_000004.12:g.5563022T>G	gnomAD
rs769520928	p.Glu1251Lys	missense variant	-	NC_000004.12:g.5563024C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1252GlyPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5563020_5563021AG>-	NCI-TCGA
rs745540572	p.Ala1253Thr	missense variant	-	NC_000004.12:g.5563018C>T	ExAC,TOPMed,gnomAD
rs1220482473	p.Ala1253Val	missense variant	-	NC_000004.12:g.5563017G>A	TOPMed
rs780781536	p.Pro1254Leu	missense variant	-	NC_000004.12:g.5563014G>A	ExAC
NCI-TCGA novel	p.Pro1254His	missense variant	-	NC_000004.12:g.5563014G>T	NCI-TCGA
NCI-TCGA novel	p.Val1255Glu	missense variant	-	NC_000004.12:g.5563011A>T	NCI-TCGA
rs746589846	p.Pro1256Leu	missense variant	-	NC_000004.12:g.5563008G>A	ExAC,gnomAD
rs756870560	p.Pro1256Ser	missense variant	-	NC_000004.12:g.5563009G>A	ExAC,gnomAD
rs1270270639	p.Ile1257Val	missense variant	-	NC_000004.12:g.5563006T>C	gnomAD
rs1211848921	p.Ile1257Thr	missense variant	-	NC_000004.12:g.5563005A>G	gnomAD
rs368359772	p.Val1258Leu	missense variant	-	NC_000004.12:g.5563003C>A	ESP,ExAC,TOPMed,gnomAD
rs1011877594	p.Ala1260Thr	missense variant	-	NC_000004.12:g.5562997C>T	TOPMed
rs894829697	p.Ala1260Glu	missense variant	-	NC_000004.12:g.5562996G>T	TOPMed
rs902225088	p.Glu1261Val	missense variant	-	NC_000004.12:g.5562993T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1261Ter	stop gained	-	NC_000004.12:g.5562994C>A	NCI-TCGA
rs923736115	p.Thr1262Ser	missense variant	-	NC_000004.12:g.5562990G>C	TOPMed
rs754241937	p.Thr1262Ala	missense variant	-	NC_000004.12:g.5562991T>C	ExAC,TOPMed,gnomAD
rs780591966	p.Leu1265Val	missense variant	-	NC_000004.12:g.5562982G>C	ExAC,TOPMed,gnomAD
RCV000003555	p.Leu1265Ter	frameshift	Curry-Hall syndrome (WAD)	NC_000004.12:g.5562982del	ClinVar
rs756510211	p.Thr1268Ile	missense variant	-	NC_000004.12:g.5562972G>A	ExAC,TOPMed,gnomAD
RCV000088669	p.Gly1269Ter	nonsense	Curry-Hall syndrome (WAD)	NC_000004.12:g.5562970C>A	ClinVar
COSM287370	p.Glu1270Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562966T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1270Asp	missense variant	-	NC_000004.12:g.5562965C>A	NCI-TCGA
rs750789655	p.Lys1271Asn	missense variant	-	NC_000004.12:g.5562962C>G	ExAC,TOPMed,gnomAD
rs767904125	p.Leu1272Phe	missense variant	-	NC_000004.12:g.5562961G>A	ExAC,gnomAD
rs1459933769	p.Ile1274Thr	missense variant	-	NC_000004.12:g.5562954A>G	gnomAD
rs1371675819	p.Phe1275Leu	missense variant	-	NC_000004.12:g.5562952A>G	TOPMed,gnomAD
rs751725959	p.Arg1276Ile	missense variant	-	NC_000004.12:g.5562948C>A	ExAC,gnomAD
rs764009438	p.Pro1278Arg	missense variant	-	NC_000004.12:g.5562942G>C	ExAC,gnomAD
rs762957778	p.Lys1279Glu	missense variant	-	NC_000004.12:g.5562940T>C	ExAC,gnomAD
rs201651890	p.Lys1279Asn	missense variant	-	NC_000004.12:g.5562938C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765051130	p.Pro1281Ala	missense variant	-	NC_000004.12:g.5562934G>C	TOPMed
NCI-TCGA novel	p.Pro1281Ser	missense variant	-	NC_000004.12:g.5562934G>A	NCI-TCGA
rs759364116	p.Glu1282Asp	missense variant	-	NC_000004.12:g.5562929C>A	ExAC,TOPMed,gnomAD
COSM3917930	p.Glu1282Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562929C>G	NCI-TCGA Cosmic
rs776386860	p.Ile1283Val	missense variant	-	NC_000004.12:g.5562928T>C	ExAC,gnomAD
COSM1430234	p.Ser1284Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562925A>C	NCI-TCGA Cosmic
rs746578489	p.Leu1285Pro	missense variant	-	NC_000004.12:g.5562921A>G	ExAC,TOPMed,gnomAD
rs1227840207	p.His1286Asn	missense variant	-	NC_000004.12:g.5562919G>T	gnomAD
rs771435248	p.Val1287Phe	missense variant	-	NC_000004.12:g.5562916C>A	ExAC,gnomAD
rs771435248	p.Val1287Ile	missense variant	-	NC_000004.12:g.5562916C>T	ExAC,gnomAD
RCV000658467	p.Val1287Ile	missense variant	-	NC_000004.12:g.5562916C>T	ClinVar
RCV000672456	p.Pro1288Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5562913del	ClinVar
rs1442223856	p.Pro1289Ser	missense variant	-	NC_000004.12:g.5562910G>A	TOPMed
rs780751172	p.Arg1290Thr	missense variant	-	NC_000004.12:g.5562906C>G	ExAC,gnomAD
rs1371052060	p.Arg1290Gly	missense variant	-	NC_000004.12:g.5562907T>C	TOPMed,gnomAD
rs780751172	p.Arg1290Lys	missense variant	-	NC_000004.12:g.5562906C>T	ExAC,gnomAD
COSM3428553	p.Lys1292Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562899C>A	NCI-TCGA Cosmic
rs1389199278	p.Lys1292Thr	missense variant	-	NC_000004.12:g.5562900T>G	gnomAD
COSM1056117	p.Lys1293Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562896C>A	NCI-TCGA Cosmic
rs1394912275	p.Lys1293Glu	missense variant	-	NC_000004.12:g.5562898T>C	gnomAD
NCI-TCGA novel	p.Lys1293Thr	missense variant	-	NC_000004.12:g.5562897T>G	NCI-TCGA
rs373925106	p.Phe1295Leu	missense variant	-	NC_000004.12:g.5562892A>G	ESP,ExAC,TOPMed,gnomAD
rs1409934596	p.Asn1297Ser	missense variant	-	NC_000004.12:g.5562885T>C	TOPMed
COSM1251556	p.Ala1298Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562882G>C	NCI-TCGA Cosmic
rs1172004567	p.Lys1299Arg	missense variant	-	NC_000004.12:g.5562879T>C	gnomAD
COSM4125157	p.Lys1299Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562879T>A	NCI-TCGA Cosmic
rs781685362	p.Lys1300Met	missense variant	-	NC_000004.12:g.5562876T>A	ExAC,TOPMed,gnomAD
COSM420570	p.Met1302Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562871T>A	NCI-TCGA Cosmic
rs146269526	p.Met1302Thr	missense variant	-	NC_000004.12:g.5562870A>G	ESP,ExAC
rs1450539362	p.Arg1303Lys	missense variant	-	NC_000004.12:g.5562867C>T	TOPMed
NCI-TCGA novel	p.Arg1303Ser	missense variant	-	NC_000004.12:g.5562866C>A	NCI-TCGA
COSM734161	p.Ala1304Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562865C>T	NCI-TCGA Cosmic
rs751671346	p.Leu1305Val	missense variant	-	NC_000004.12:g.5562862A>C	ExAC,gnomAD
COSM3604525	p.Leu1305Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5562861A>T	NCI-TCGA Cosmic
rs1201029801	p.Gly1306Val	missense variant	-	NC_000004.12:g.5562858C>A	gnomAD
COSM1056116	p.Gly1306Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562858C>T	NCI-TCGA Cosmic
rs200844130	p.Met1307Val	missense variant	-	NC_000004.12:g.5562856T>C	ExAC,TOPMed,gnomAD
rs200844130	p.Met1307Leu	missense variant	-	NC_000004.12:g.5562856T>G	ExAC,TOPMed,gnomAD
rs1249649159	p.Met1307Lys	missense variant	-	NC_000004.12:g.5562855A>T	gnomAD
rs200844130	p.Met1307Leu	missense variant	-	NC_000004.12:g.5562856T>A	ExAC,TOPMed,gnomAD
rs765207079	p.Asp1308Gly	missense variant	-	NC_000004.12:g.5562852T>C	ExAC,gnomAD
rs1015050543	p.Asp1308Asn	missense variant	-	NC_000004.12:g.5562853C>T	TOPMed,gnomAD
rs1015050543	p.Asp1308His	missense variant	-	NC_000004.12:g.5562853C>G	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0008925	Cleft Palate	disease	BEFREE
C0009081	Congenital clubfoot	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	HPO
C0013336	Dwarfism	disease	BEFREE
C0013393	Dysostoses	disease	LHGDN
C0013575	Ectodermal Dysplasia	disease	HPO
C0013903	Ellis-Van Creveld Syndrome	disease	BEFREE;CLINGEN;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0014116	Endocardial Cushion Defects	group	HPO
C0015934	Fetal Growth Retardation	phenotype	HPO
C0018816	Heart Septal Defects	group	BEFREE
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0018824	Heart valve disease	group	HPO
C0020608	Hypodontia	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0024507	Majewski Syndrome	disease	CLINVAR
C0025995	Micromelia	disease	HPO
C0027443	Natal Teeth	phenotype	HPO
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0037221	Situs Inversus	disease	HPO
C0038379	Strabismus	disease	HPO
C0040427	Tooth Abnormalities	group	BEFREE
C0152423	Congenital small ears	disease	BEFREE
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0158731	Congenital pectus carinatum	disease	HPO
C0158733	Hand polydactyly	disease	HPO
C0158734	Polydactyly of toes	disease	HPO
C0221260	Dystrophia unguium	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0239174	Late tooth eruption	phenotype	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0241654	Abnormality of the heart valves	phenotype	HPO
C0263523	Micronychia (disorder)	phenotype	HPO
C0265215	Meckel-Gruber syndrome	disease	CLINVAR
C0265275	Jeune thoracic dystrophy	disease	CLINVAR
C0266037	Peg-shaped teeth	disease	HPO
C0266054	Premature tooth eruption	phenotype	HPO
C0266642	Situs ambiguus	disease	HPO
C0341007	Alveolar ridge abnormality	phenotype	HPO
C0343284	Chondrodysplasia	disease	BEFREE
C0392482	Common atrium	disease	HPO
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0424711	Orbital separation diminished	phenotype	HPO
C0426789	Short thorax	phenotype	HPO
C0426790	Narrow thorax	phenotype	HPO
C0426817	Short ribs	phenotype	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432198	Short rib-polydactyly syndrome, Beemer type	disease	CLINVAR
C0457013	Weyers acrofacial dysostosis	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0563449	Epispadias, male (disorder)	disease	HPO
C0575802	Small hand	phenotype	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0685787	Cleft face	disease	HPO
C0848558	Hypospadias	group	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1389016	ATRIOVENTRICULAR CANAL DEFECT	phenotype	HPO
C1446712	Overlapping fingers	phenotype	HPO
C1527249	Colorectal Cancer	disease	UNIPROT
C1691215	Penile hypospadias	disease	HPO
C1834405	Nail dysplasia	disease	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1837279	Hypoplastic toenails	phenotype	HPO
C1839829	Short distal phalanx of finger	phenotype	HPO
C1840235	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	disease	HPO
C1843108	Short palm	phenotype	HPO
C1845272	Prominent antihelix	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1850171	Neonatal short-limb short stature	phenotype	HPO
C1854912	Short long bone	phenotype	HPO
C1856136	Conical incisor	phenotype	HPO
C1857002	Capitate-hamate fusion	phenotype	HPO
C1857005	Cone-shaped epiphyses of phalanges 2 to 5	phenotype	HPO
C1865027	Hypoplastic iliac wing	phenotype	HPO
C2112129	Postaxial foot polydactyly	disease	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2981150	Uranostaphyloschisis	disease	BEFREE
C3150077	Mild short stature	phenotype	HPO
C3276623	Toenail dysplasia	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3806510	Horizontal ribs	phenotype	HPO
C3808270	Acetabular spurs	phenotype	HPO
C4012359	Pointed tooth	phenotype	HPO
C4020759	Pointed incisor	phenotype	HPO
C4020838	Relative short stature	phenotype	HPO
C4020847	Abnormality of pelvic girdle bone morphology	phenotype	HPO
C4020865	Fibular polydactyly	disease	HPO
C4021395	Abnormality of the antihelix	phenotype	HPO
C4021782	Abnormality of the fingernails	phenotype	HPO
C4023170	Abnormality of oral mucosa	phenotype	HPO
C4024996	Aplasia/Hypoplasia of the lungs	phenotype	HPO
C4025881	Abnormality of oral frenula	phenotype	HPO
C4277690	Ciliopathies	group	GENOMICS_ENGLAND
C4280341	Pointed front tooth	phenotype	HPO
C4280342	Peg shaped front tooth	phenotype	HPO
C4280445	Abnormality of alveolar processes of jaw	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007224	smoothened signaling pathway	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISS
GO:0005634	nucleus	HDA
GO:0005737	cytoplasm	IEA
GO:0005856	cytoskeleton	IEA
GO:0005929	cilium	ISS
GO:0016021	integral component of membrane	IEA
GO:0060170	ciliary membrane	TAS
GO:0098797	plasma membrane protein complex	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5358351	Signaling by Hedgehog	IEA
R-HSA-5632684	Hedgehog 'on' state	TAS
R-HSA-5632684	Hedgehog 'on' state	IEA
R-HSA-5635838	Activation of SMO	IEA
R-HSA-5635838	Activation of SMO	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EVC2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EVC2 mRNA	27188386
C496492	abrine	abrine results in increased expression of EVC2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of EVC2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of EVC2 mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of EVC2 mRNA	30807115
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of EVC2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of EVC2 mRNA	23630614
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of EVC2 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of EVC2 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EVC2 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of EVC2 gene	25435355
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to EVC2 promoter]	19654925
C006780	bisphenol A	bisphenol A results in decreased expression of EVC2 mRNA	25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of EVC2 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of EVC2 mRNA	20938992
D003471	Cuprizone	Cuprizone results in decreased expression of EVC2 mRNA	26577399
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EVC2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EVC2 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of EVC2 mRNA	22574217
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of EVC2 mRNA	23129252
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of EVC2 mRNA	20938992
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of EVC2 mRNA	24972896
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EVC2 mRNA	27188386
D008694	Methamphetamine	Methamphetamine results in increased expression of EVC2 mRNA	28341135
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of EVC2 mRNA	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of EVC2 mRNA	23649840
C523799	MRK 003	EVC2 results in increased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EVC2 mRNA	25620056
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of EVC2 mRNA	20188158
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of EVC2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of EVC2 mRNA	26272509
D000077210	Sunitinib	Sunitinib results in decreased expression of EVC2 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of EVC2 mRNA	31299295
D013849	Thimerosal	Thimerosal results in decreased expression of EVC2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of EVC2 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in decreased expression of EVC2 mRNA	21427059
D014635	Valproic Acid	Valproic Acid results in increased expression of EVC2 mRNA	21427059

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0242	Dwarfism
KW-0038	Ectodermal dysplasia
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR022076	Limbin
IPR026501	Limbin/Ellis-van_Creveld

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF12297	EVC2_like

Gene: EVC2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction