CleftGeneDB-Search

Gene: EVC

Basic information

Tag	Content
Uniprot ID	P57679
Entrez ID	2121
Genbank protein ID	AAF37217.1; AAF44682.1; AAF37216.1;
Genbank nucleotide ID	NM_001306092.1; NM_153717.2; NM_001306090.1;
Ensembl protein ID	ENSP00000264956
Ensembl nucleotide ID	ENSG00000072840
Gene name	Ellis-van Creveld syndrome protein
Gene symbol	EVC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	20087401
Functional description	Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.
Sequence	MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD 60 DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI 120 YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS 180 ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF 240 KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE 300 KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS 360 QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE 420 LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT 480 ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL 540 QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL 600 SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT 660 QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ 720 LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY 780 VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT 840 AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ 900 NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT 960 SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL 992

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	Cleft type	Species	Evidence	Details
1:1 ortholog	EVC	611166	A0A5F4C2C7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EVC	102189937	A0A452FYH3		Capra hircus	Prediction	More>>
1:1 ortholog	EVC	2121	P57679	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Evc		D3YUJ0		Mus musculus	Prediction	More>>
1:1 ortholog	EVC	461097	H2RAB9		Pan troglodytes	Prediction	More>>
1:1 ortholog	EVC		A0A287B0J8		Sus scrofa	Prediction	More>>
1:1 ortholog	Evc	289712	G3V706		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000674216	p.Met1Lys	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711382T>A	ClinVar
rs931021445	p.Ala2Thr	missense variant	-	NC_000004.12:g.5711384G>A	TOPMed
rs1374278910	p.Arg3Gly	missense variant	-	NC_000004.12:g.5711387C>G	TOPMed
RCV000637035	p.Arg3Pro	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711388G>C	ClinVar
rs756852655	p.Arg3Pro	missense variant	-	NC_000004.12:g.5711388G>C	ExAC,TOPMed,gnomAD
RCV000173582	p.Arg3Pro	missense variant	-	NC_000004.12:g.5711388G>C	ClinVar
RCV000724435	p.Arg3Pro	missense variant	-	NC_000004.12:g.5711388G>C	ClinVar
rs939779373	p.Gly5Val	missense variant	-	NC_000004.12:g.5711394G>T	TOPMed,gnomAD
rs1250299379	p.Gly5Arg	missense variant	-	NC_000004.12:g.5711393G>C	gnomAD
rs1280664058	p.Ala6Val	missense variant	-	NC_000004.12:g.5711397C>T	gnomAD
rs1319153350	p.Ala7Thr	missense variant	-	NC_000004.12:g.5711399G>A	gnomAD
RCV000667482	p.Ala7Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711404del	ClinVar
rs1218743213	p.Cys8Tyr	missense variant	-	NC_000004.12:g.5711403G>A	gnomAD
rs1425513399	p.Lys9Gln	missense variant	-	NC_000004.12:g.5711405A>C	TOPMed
rs1186282355	p.Lys9Arg	missense variant	-	NC_000004.12:g.5711406A>G	TOPMed
rs1474600088	p.Lys9Asn	missense variant	-	NC_000004.12:g.5711407G>C	TOPMed
rs1041162288	p.Asp11Asn	missense variant	-	NC_000004.12:g.5711411G>A	TOPMed,gnomAD
rs901355701	p.Ala12Val	missense variant	-	NC_000004.12:g.5711415C>T	TOPMed
rs1369066723	p.Ala12Ser	missense variant	-	NC_000004.12:g.5711414G>T	TOPMed,gnomAD
rs562502590	p.Arg13Leu	missense variant	-	NC_000004.12:g.5711418G>T	1000Genomes,TOPMed
rs1164098333	p.Arg13Trp	missense variant	-	NC_000004.12:g.5711417C>T	gnomAD
rs562502590	p.Arg13Gln	missense variant	-	NC_000004.12:g.5711418G>A	1000Genomes,TOPMed
rs997054588	p.Arg18Leu	missense variant	-	NC_000004.12:g.5711433G>T	TOPMed,gnomAD
rs893797487	p.Ala20Glu	missense variant	-	NC_000004.12:g.5711439C>A	TOPMed
rs1359522467	p.Ala20Pro	missense variant	-	NC_000004.12:g.5711438G>C	TOPMed
rs893797487	p.Ala20Val	missense variant	-	NC_000004.12:g.5711439C>T	TOPMed
rs1267604048	p.Arg22Trp	missense variant	-	NC_000004.12:g.5711444C>T	gnomAD
rs1010882648	p.Pro23Arg	missense variant	-	NC_000004.12:g.5711448C>G	TOPMed
rs1010882648	p.Pro23Leu	missense variant	-	NC_000004.12:g.5711448C>T	TOPMed
rs966782465	p.Ala24Glu	missense variant	-	NC_000004.12:g.5711451C>A	TOPMed,gnomAD
rs1449662223	p.Ala24Ser	missense variant	-	NC_000004.12:g.5711450G>T	TOPMed
rs1426172267	p.Pro25Leu	missense variant	-	NC_000004.12:g.5711454C>T	TOPMed
rs1395518976	p.Pro25Ser	missense variant	-	NC_000004.12:g.5711453C>T	TOPMed,gnomAD
rs1171886869	p.Ala26Pro	missense variant	-	NC_000004.12:g.5711456G>C	TOPMed
rs1035520087	p.Ala26Val	missense variant	-	NC_000004.12:g.5711457C>T	TOPMed,gnomAD
rs1256100832	p.Leu28Pro	missense variant	-	NC_000004.12:g.5711463T>C	TOPMed
rs1314509668	p.Ala29Val	missense variant	-	NC_000004.12:g.5711466C>T	TOPMed,gnomAD
rs991390298	p.Pro30Thr	missense variant	-	NC_000004.12:g.5711468C>A	TOPMed
RCV000536411	p.Pro30Leu	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711469C>T	ClinVar
rs991390298	p.Pro30Ala	missense variant	-	NC_000004.12:g.5711468C>G	TOPMed
rs886044558	p.Pro30Arg	missense variant	-	NC_000004.12:g.5711469C>G	TOPMed,gnomAD
rs886044558	p.Pro30Leu	missense variant	-	NC_000004.12:g.5711469C>T	TOPMed,gnomAD
RCV000398177	p.Pro30Leu	missense variant	-	NC_000004.12:g.5711469C>T	ClinVar
rs952757087	p.Ala31Thr	missense variant	-	NC_000004.12:g.5711471G>A	TOPMed,gnomAD
rs1371458418	p.Leu33Met	missense variant	-	NC_000004.12:g.5711477C>A	gnomAD
RCV000688131	p.Gly35Asp	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711484G>A	ClinVar
rs1219807707	p.Ala36Gly	missense variant	-	NC_000004.12:g.5711487C>G	TOPMed,gnomAD
rs939747914	p.Ala37Pro	missense variant	-	NC_000004.12:g.5711489G>C	TOPMed
rs1251052449	p.Ala37Val	missense variant	-	NC_000004.12:g.5711490C>T	gnomAD
rs1416158950	p.Leu38Pro	missense variant	-	NC_000004.12:g.5711493T>C	TOPMed
rs1175605093	p.Gly41Arg	missense variant	-	NC_000004.12:g.5711501G>C	TOPMed
rs1202392804	p.Leu42Ile	missense variant	-	NC_000004.12:g.5711504C>A	TOPMed,gnomAD
rs1403513535	p.Leu44Pro	missense variant	-	NC_000004.12:g.5711511T>C	gnomAD
rs1467815235	p.Leu44Phe	missense variant	-	NC_000004.12:g.5711510C>T	TOPMed
rs1553857995	p.Trp45Ter	stop gained	-	NC_000004.12:g.5711514G>A	-
rs1271073773	p.Trp45Arg	missense variant	-	NC_000004.12:g.5711513T>C	TOPMed
RCV000674011	p.Trp45Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711514G>A	ClinVar
rs1246844384	p.Leu46Phe	missense variant	-	NC_000004.12:g.5711516C>T	TOPMed
rs922768547	p.Arg49Leu	missense variant	-	NC_000004.12:g.5711526G>T	TOPMed
rs1341486053	p.Ala50Thr	missense variant	-	NC_000004.12:g.5711528G>A	gnomAD
rs1399978558	p.Arg52His	missense variant	-	NC_000004.12:g.5711535G>A	gnomAD
rs932851648	p.Arg52Cys	missense variant	-	NC_000004.12:g.5711534C>T	TOPMed,gnomAD
rs1294037476	p.Arg54His	missense variant	-	NC_000004.12:g.5711541G>A	gnomAD
RCV000413234	p.Gln58Ter	nonsense	-	NC_000004.12:g.5711552C>T	ClinVar
rs1057517899	p.Gln58Ter	stop gained	-	NC_000004.12:g.5711552C>T	-
NCI-TCGA novel	p.Asp60His	missense variant	-	NC_000004.12:g.5719251G>C	NCI-TCGA
rs749978268	p.Asp60Asn	missense variant	-	NC_000004.12:g.5719251G>A	ExAC,gnomAD
rs779857768	p.Asp61Asn	missense variant	-	NC_000004.12:g.5719254G>A	ExAC,TOPMed,gnomAD
rs753561059	p.Asp61Gly	missense variant	-	NC_000004.12:g.5719255A>G	ExAC,gnomAD
rs779857768	p.Asp61His	missense variant	-	NC_000004.12:g.5719254G>C	ExAC,TOPMed,gnomAD
rs147280107	p.Thr62Ile	missense variant	-	NC_000004.12:g.5719258C>T	NCI-TCGA,NCI-TCGA Cosmic
rs147280107	p.Thr62Ile	missense variant	-	NC_000004.12:g.5719258C>T	ESP,ExAC,TOPMed,gnomAD
rs143898721	p.Thr62Ala	missense variant	-	NC_000004.12:g.5719257A>G	ESP,ExAC,TOPMed
rs143898721	p.Thr62Pro	missense variant	-	NC_000004.12:g.5719257A>C	ESP,ExAC,TOPMed
rs371329240	p.Gln63Glu	missense variant	-	NC_000004.12:g.5719260C>G	ESP,ExAC,TOPMed,gnomAD
rs772017175	p.Gln63Arg	missense variant	-	NC_000004.12:g.5719261A>G	ExAC,gnomAD
rs140697525	p.Leu65Met	missense variant	-	NC_000004.12:g.5719266C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys67Met	missense variant	-	NC_000004.12:g.5719273A>T	NCI-TCGA
rs747092718	p.Lys67Asn	missense variant	-	NC_000004.12:g.5719274G>T	NCI-TCGA
rs747092718	p.Lys67Asn	missense variant	-	NC_000004.12:g.5719274G>T	ExAC
COSM3604643	p.Lys67Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5719274G>C	NCI-TCGA Cosmic
rs771087271	p.Asn72Asp	missense variant	-	NC_000004.12:g.5719287A>G	ExAC,gnomAD
rs1361442490	p.Ala73Glu	missense variant	-	NC_000004.12:g.5719291C>A	TOPMed,gnomAD
rs1361442490	p.Ala73Val	missense variant	-	NC_000004.12:g.5719291C>T	TOPMed,gnomAD
rs1361442490	p.Ala73Val	missense variant	-	NC_000004.12:g.5719291C>T	NCI-TCGA Cosmic
RCV000254126	p.Gln74Pro	missense variant	-	NC_000004.12:g.5719294A>C	ClinVar
RCV000303964	p.Gln74Pro	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5719294A>C	ClinVar
rs2291157	p.Gln74Pro	missense variant	-	NC_000004.12:g.5719294A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000398734	p.Gln74Pro	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5719294A>C	ClinVar
rs763507888	p.Thr75Ile	missense variant	-	NC_000004.12:g.5719297C>T	ExAC,gnomAD
rs763507888	p.Thr75Asn	missense variant	-	NC_000004.12:g.5719297C>A	ExAC,gnomAD
rs763507888	p.Thr75Ile	missense variant	-	NC_000004.12:g.5719297C>T	NCI-TCGA Cosmic
rs760319292	p.Pro76Ser	missense variant	-	NC_000004.12:g.5719299C>T	ExAC,TOPMed,gnomAD
rs760319292	p.Pro76Ala	missense variant	-	NC_000004.12:g.5719299C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser77Ter	stop gained	-	NC_000004.12:g.5719303C>A	NCI-TCGA
rs766938849	p.Ser77Leu	missense variant	-	NC_000004.12:g.5719303C>T	ExAC,gnomAD
rs754706204	p.Glu78Asp	missense variant	-	NC_000004.12:g.5719307A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr79Ser	missense variant	-	NC_000004.12:g.5719308A>T	NCI-TCGA
rs752462640	p.Ser81Phe	missense variant	-	NC_000004.12:g.5719315C>T	ExAC,gnomAD
rs777697300	p.Pro82Ala	missense variant	-	NC_000004.12:g.5719317C>G	ExAC,gnomAD
rs886059495	p.Ser83Leu	missense variant	-	NC_000004.12:g.5719321C>T	-
RCV000393028	p.Ser83Leu	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5719321C>T	ClinVar
RCV000340204	p.Ser83Leu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5719321C>T	ClinVar
RCV000723255	p.Arg85Ter	frameshift	-	NC_000004.12:g.5719325del	ClinVar
NCI-TCGA novel	p.Arg86Met	missense variant	-	NC_000004.12:g.5719330G>T	NCI-TCGA
rs771068713	p.Lys87Glu	missense variant	-	NC_000004.12:g.5719332A>G	ExAC,gnomAD
rs771068713	p.Lys87Glu	missense variant	-	NC_000004.12:g.5719332A>G	NCI-TCGA,NCI-TCGA Cosmic
rs1026879773	p.Arg88Thr	missense variant	-	NC_000004.12:g.5719336G>C	TOPMed,gnomAD
rs781244755	p.Glu89Gly	missense variant	-	NC_000004.12:g.5719339A>G	ExAC,TOPMed
rs1178129562	p.Val90Glu	missense variant	-	NC_000004.12:g.5719342T>A	TOPMed
rs1467789013	p.Met92Ile	missense variant	-	NC_000004.12:g.5719349G>A	gnomAD
rs1468764381	p.Met92Val	missense variant	-	NC_000004.12:g.5719347A>G	TOPMed
rs1234856967	p.Ser93Leu	missense variant	-	NC_000004.12:g.5719351C>T	TOPMed
rs1234856967	p.Ser93Leu	missense variant	-	NC_000004.12:g.5719351C>T	NCI-TCGA
COSM6100790	p.Lys94Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5719353A>T	NCI-TCGA Cosmic
RCV000175994	p.Asp95Gly	missense variant	-	NC_000004.12:g.5719357A>G	ClinVar
rs41269547	p.Asp95Gly	missense variant	-	NC_000004.12:g.5719357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp95Asn	missense variant	-	NC_000004.12:g.5719356G>A	NCI-TCGA
rs763416267	p.Lys96Arg	missense variant	-	NC_000004.12:g.5719360A>G	ExAC,gnomAD
rs769228482	p.Val99Ala	missense variant	-	NC_000004.12:g.5719369T>C	ExAC,gnomAD
rs1282571678	p.Asp100Gly	missense variant	-	NC_000004.12:g.5719372A>G	TOPMed,gnomAD
rs775193215	p.Glu101Ala	missense variant	-	NC_000004.12:g.5729308A>C	ExAC,gnomAD
rs1421283944	p.Glu101Lys	missense variant	-	NC_000004.12:g.5729307G>A	gnomAD
rs1428753157	p.Cys102Tyr	missense variant	-	NC_000004.12:g.5729311G>A	TOPMed,gnomAD
rs1285992043	p.Glu103Ter	stop gained	-	NC_000004.12:g.5729313G>T	gnomAD
rs763380800	p.Glu103Asp	missense variant	-	NC_000004.12:g.5729315G>C	gnomAD
rs866940441	p.Pro104Ser	missense variant	-	NC_000004.12:g.5729316C>T	TOPMed
rs201640469	p.Pro104Arg	missense variant	-	NC_000004.12:g.5729317C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201640469	p.Pro104Leu	missense variant	-	NC_000004.12:g.5729317C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs751381591	p.Pro105His	missense variant	-	NC_000004.12:g.5729320C>A	ExAC,gnomAD
rs200668643	p.Ser106Cys	missense variant	-	NC_000004.12:g.5729323C>G	TOPMed,gnomAD
rs200668643	p.Ser106Phe	missense variant	-	NC_000004.12:g.5729323C>T	TOPMed,gnomAD
rs1034459378	p.Asn107His	missense variant	-	NC_000004.12:g.5729325A>C	gnomAD
rs757180182	p.Asn107Lys	missense variant	-	NC_000004.12:g.5729327C>A	ExAC,gnomAD
rs1270028243	p.Asn109Ser	missense variant	-	NC_000004.12:g.5729332A>G	TOPMed
rs1212823200	p.Asn109Asp	missense variant	-	NC_000004.12:g.5729331A>G	TOPMed,gnomAD
rs767361058	p.Ile110Met	missense variant	-	NC_000004.12:g.5729336C>G	ExAC,TOPMed,gnomAD
COSM280881	p.Ala112Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5729340G>T	NCI-TCGA Cosmic
RCV000370500	p.Ala114Val	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5729347C>T	ClinVar
rs16837598	p.Ala114Val	missense variant	-	NC_000004.12:g.5729347C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000533219	p.Ala114Val	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5729347C>T	ClinVar
RCV000246605	p.Ala114Val	missense variant	-	NC_000004.12:g.5729347C>T	ClinVar
rs16837598	p.Ala114Gly	missense variant	-	NC_000004.12:g.5729347C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756208272	p.Ala114Ser	missense variant	-	NC_000004.12:g.5729346G>T	ExAC,TOPMed,gnomAD
rs756208272	p.Ala114Thr	missense variant	-	NC_000004.12:g.5729346G>A	ExAC,TOPMed,gnomAD
RCV000277753	p.Ala114Val	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5729347C>T	ClinVar
rs756208272	p.Ala114Thr	missense variant	-	NC_000004.12:g.5729346G>A	NCI-TCGA
rs755273705	p.Leu115Val	missense variant	-	NC_000004.12:g.5729349C>G	ExAC,TOPMed,gnomAD
COSM4125291	p.Lys116Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5729352A>G	NCI-TCGA Cosmic
rs779379855	p.Ala117Ser	missense variant	-	NC_000004.12:g.5729355G>T	ExAC,gnomAD
rs1398927619	p.Ile120Val	missense variant	-	NC_000004.12:g.5729364A>G	TOPMed,gnomAD
rs748523193	p.Tyr121Ter	stop gained	-	NC_000004.12:g.5729369C>A	ExAC,gnomAD
RCV000516149	p.Tyr121Ter	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5729369C>A	ClinVar
rs1407007311	p.Pro122Ser	missense variant	-	NC_000004.12:g.5729370C>T	gnomAD
RCV000672061	p.Pro122Ser	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5729370C>T	ClinVar
rs772569904	p.Ile123Val	missense variant	-	NC_000004.12:g.5729373A>G	ExAC,gnomAD
rs1334984151	p.Lys126Met	missense variant	-	NC_000004.12:g.5729383A>T	gnomAD
rs1259074504	p.Phe127Leu	missense variant	-	NC_000004.12:g.5729387C>G	gnomAD
rs773647675	p.Arg128Gln	missense variant	-	NC_000004.12:g.5729389G>A	ExAC,TOPMed,gnomAD
rs1394529980	p.Pro129Thr	missense variant	-	NC_000004.12:g.5731425C>A	gnomAD
COSM3392918	p.Leu130Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731429T>C	NCI-TCGA Cosmic
rs1345242139	p.Asp132Asn	missense variant	-	NC_000004.12:g.5731434G>A	gnomAD
RCV000761603	p.Asp132Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5731433del	ClinVar
rs1403693257	p.Ser134Tyr	missense variant	-	NC_000004.12:g.5731441C>A	gnomAD
rs1280640315	p.Asn136Ser	missense variant	-	NC_000004.12:g.5731447A>G	TOPMed,gnomAD
rs1280640315	p.Asn136Ile	missense variant	-	NC_000004.12:g.5731447A>T	TOPMed,gnomAD
rs752906200	p.Pro137Thr	missense variant	-	NC_000004.12:g.5731449C>A	ExAC,TOPMed,gnomAD
RCV000594368	p.Pro137Thr	missense variant	-	NC_000004.12:g.5731449C>A	ClinVar
RCV000271782	p.Pro137Thr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731449C>A	ClinVar
RCV000329078	p.Pro137Thr	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731449C>A	ClinVar
COSM4681873	p.Pro137Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731450C>T	NCI-TCGA Cosmic
rs1243380410	p.Ser138Phe	missense variant	-	NC_000004.12:g.5731453C>T	TOPMed
rs1336997702	p.Leu139Val	missense variant	-	NC_000004.12:g.5731455C>G	gnomAD
rs1224211672	p.His140Leu	missense variant	-	NC_000004.12:g.5731459A>T	TOPMed,gnomAD
rs1224211672	p.His140Pro	missense variant	-	NC_000004.12:g.5731459A>C	TOPMed,gnomAD
rs751989549	p.His140Gln	missense variant	-	NC_000004.12:g.5731460T>G	ExAC,gnomAD
rs1224211672	p.His140Arg	missense variant	-	NC_000004.12:g.5731459A>G	TOPMed,gnomAD
rs954653405	p.Asn142Lys	missense variant	-	NC_000004.12:g.5731466C>G	TOPMed,gnomAD
rs757694707	p.Gln145Arg	missense variant	-	NC_000004.12:g.5731474A>G	ExAC,TOPMed,gnomAD
rs757694707	p.Gln145Pro	missense variant	-	NC_000004.12:g.5731474A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala146Val	missense variant	-	NC_000004.12:g.5731477C>T	NCI-TCGA
rs748785587	p.Val147Ile	missense variant	-	NC_000004.12:g.5731479G>A	ExAC,TOPMed,gnomAD
rs748785587	p.Val147Phe	missense variant	-	NC_000004.12:g.5731479G>T	ExAC,TOPMed,gnomAD
rs748785587	p.Val147Leu	missense variant	-	NC_000004.12:g.5731479G>C	ExAC,TOPMed,gnomAD
rs748785587	p.Val147Ile	missense variant	-	NC_000004.12:g.5731479G>A	NCI-TCGA
rs200052003	p.Leu148Ser	missense variant	-	NC_000004.12:g.5731483T>C	gnomAD
rs200052003	p.Leu148Trp	missense variant	-	NC_000004.12:g.5731483T>G	gnomAD
rs778604572	p.Leu148Phe	missense variant	-	NC_000004.12:g.5731484G>C	ExAC
rs200403488	p.His150Pro	missense variant	-	NC_000004.12:g.5731489A>C	ExAC,gnomAD
rs371671127	p.Pro152Leu	missense variant	-	NC_000004.12:g.5731495C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1386247667	p.Glu154Gly	missense variant	-	NC_000004.12:g.5731501A>G	TOPMed,gnomAD
COSM1310157	p.Glu154Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731500G>C	NCI-TCGA Cosmic
rs1294279906	p.Ser156Phe	missense variant	-	NC_000004.12:g.5731507C>T	gnomAD
rs763048870	p.Pro157Leu	missense variant	-	NC_000004.12:g.5731510C>T	ExAC,TOPMed,gnomAD
rs146729456	p.Pro157Ser	missense variant	-	NC_000004.12:g.5731509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146729456	p.Pro157Ala	missense variant	-	NC_000004.12:g.5731509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000341901	p.Pro157Ala	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731509C>G	ClinVar
RCV000178397	p.Pro157Ala	missense variant	-	NC_000004.12:g.5731509C>G	ClinVar
RCV000380019	p.Pro157Ala	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731509C>G	ClinVar
rs150284356	p.Ser158Cys	missense variant	-	NC_000004.12:g.5731513C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000283215	p.Ser158Cys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731513C>G	ClinVar
RCV000340602	p.Ser158Cys	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731513C>G	ClinVar
rs757677978	p.Leu161Val	missense variant	-	NC_000004.12:g.5731521C>G	ExAC,gnomAD
rs750970340	p.Leu161Pro	missense variant	-	NC_000004.12:g.5731522T>C	ExAC,gnomAD
rs1490742182	p.Ser163Arg	missense variant	-	NC_000004.12:g.5731529C>A	TOPMed
COSM4125292	p.Ser163Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731528G>T	NCI-TCGA Cosmic
rs1259803475	p.Ser165Arg	missense variant	-	NC_000004.12:g.5731533A>C	NCI-TCGA
rs1259803475	p.Ser165Arg	missense variant	-	NC_000004.12:g.5731533A>C	gnomAD
rs567701930	p.Gly167Ser	missense variant	-	NC_000004.12:g.5731539G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu168Gly	missense variant	-	NC_000004.12:g.5731543A>G	NCI-TCGA
rs1184442129	p.Lys169Met	missense variant	-	NC_000004.12:g.5731546A>T	gnomAD
rs1281612038	p.Lys169Glu	missense variant	-	NC_000004.12:g.5731545A>G	TOPMed
rs560865556	p.Lys169Asn	missense variant	-	NC_000004.12:g.5731547G>T	1000Genomes,ExAC,gnomAD
rs1240414431	p.Asp170Gly	missense variant	-	NC_000004.12:g.5731549A>G	TOPMed
rs199904401	p.Asp171Tyr	missense variant	-	NC_000004.12:g.5731551G>T	ESP,ExAC,TOPMed,gnomAD
rs199904401	p.Asp171Asn	missense variant	-	NC_000004.12:g.5731551G>A	ESP,ExAC,TOPMed,gnomAD
rs199904401	p.Asp171Asn	missense variant	-	NC_000004.12:g.5731551G>A	NCI-TCGA
rs1364707022	p.Cys172Trp	missense variant	-	NC_000004.12:g.5731556C>G	gnomAD
rs770888314	p.Ser173Ile	missense variant	-	NC_000004.12:g.5731558G>T	ExAC,gnomAD
rs915228880	p.Ser175Leu	missense variant	-	NC_000004.12:g.5731564C>T	gnomAD
rs769804808	p.Ser176Cys	missense variant	-	NC_000004.12:g.5731567C>G	ExAC,gnomAD
rs542910336	p.Ser177Arg	missense variant	-	NC_000004.12:g.5731571C>A	ExAC,TOPMed,gnomAD
rs144897690	p.Val178Ile	missense variant	-	NC_000004.12:g.5731572G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000389976	p.Val178Ile	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731572G>A	ClinVar
RCV000300922	p.Val178Ile	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731572G>A	ClinVar
RCV000637048	p.Val178Ile	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731572G>A	ClinVar
rs144897690	p.Val178Ile	missense variant	-	NC_000004.12:g.5731572G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1462719842	p.His179Tyr	missense variant	-	NC_000004.12:g.5731575C>T	gnomAD
rs762136199	p.Ser180Leu	missense variant	-	NC_000004.12:g.5731579C>T	ExAC,TOPMed,gnomAD
rs941367607	p.Ser183Gly	missense variant	-	NC_000004.12:g.5731587A>G	TOPMed
RCV000391771	p.Asp184Asn	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731590G>A	ClinVar
rs41269549	p.Asp184Asn	missense variant	-	NC_000004.12:g.5731590G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000334802	p.Asp184Asn	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731590G>A	ClinVar
rs1409247307	p.Arg186Lys	missense variant	-	NC_000004.12:g.5731597G>A	gnomAD
rs766923110	p.Leu188Phe	missense variant	-	NC_000004.12:g.5731602C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser189Gly	missense variant	-	NC_000004.12:g.5731605A>G	NCI-TCGA
rs113002470	p.Arg190His	missense variant	-	NC_000004.12:g.5731609G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000178396	p.Arg190Leu	missense variant	-	NC_000004.12:g.5731609G>T	ClinVar
rs113002470	p.Arg190Leu	missense variant	-	NC_000004.12:g.5731609G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1286815295	p.Arg190Cys	missense variant	-	NC_000004.12:g.5731608C>T	TOPMed
rs1286815295	p.Arg190Cys	missense variant	-	NC_000004.12:g.5731608C>T	NCI-TCGA Cosmic
rs1261882121	p.Thr191Ser	missense variant	-	NC_000004.12:g.5731612C>G	TOPMed
rs1470683132	p.Phe192Cys	missense variant	-	NC_000004.12:g.5731615T>G	gnomAD
rs777256784	p.Arg194Pro	missense variant	-	NC_000004.12:g.5731621G>C	ExAC,gnomAD
rs777256784	p.Arg194Leu	missense variant	-	NC_000004.12:g.5731621G>T	ExAC,gnomAD
rs757990300	p.Arg194Trp	missense variant	-	NC_000004.12:g.5731620C>T	ExAC,TOPMed,gnomAD
rs777256784	p.Arg194Gln	missense variant	-	NC_000004.12:g.5731621G>A	ExAC,gnomAD
rs777256784	p.Arg194Leu	missense variant	-	NC_000004.12:g.5731621G>T	NCI-TCGA Cosmic
rs1390544058	p.Asn196Ile	missense variant	-	NC_000004.12:g.5731627A>T	gnomAD
rs41269551	p.Asn196Asp	missense variant	-	NC_000004.12:g.5731626A>G	1000Genomes,ExAC,gnomAD
rs115507440	p.Ala197Ser	missense variant	-	NC_000004.12:g.5731629G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115507440	p.Ala197Thr	missense variant	-	NC_000004.12:g.5731629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1401131325	p.Pro199Leu	missense variant	-	NC_000004.12:g.5731636C>T	TOPMed
rs1233601345	p.Glu205Asp	missense variant	-	NC_000004.12:g.5731655G>C	gnomAD
rs775555999	p.Glu205Lys	missense variant	-	NC_000004.12:g.5731653G>A	ExAC,gnomAD
rs1017946059	p.Ser206Asn	missense variant	-	NC_000004.12:g.5731657G>A	TOPMed,gnomAD
RCV000673804	p.Ser206Asn	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5731657G>A	ClinVar
rs202026284	p.Val209Ile	missense variant	-	NC_000004.12:g.5733358G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000766746	p.Val209Ile	missense variant	-	NC_000004.12:g.5733358G>A	ClinVar
rs1230866971	p.Val209Ala	missense variant	-	NC_000004.12:g.5733359T>C	gnomAD
rs202026284	p.Val209Ile	missense variant	-	NC_000004.12:g.5733358G>A	ExAC,TOPMed,gnomAD
RCV000435250	p.Val209Ile	missense variant	-	NC_000004.12:g.5733358G>A	ClinVar
rs376818413	p.Asp210Tyr	missense variant	-	NC_000004.12:g.5733361G>T	ESP,ExAC,TOPMed,gnomAD
rs376818413	p.Asp210Asn	missense variant	-	NC_000004.12:g.5733361G>A	ESP,ExAC,TOPMed,gnomAD
rs982677323	p.Leu211Gln	missense variant	-	NC_000004.12:g.5733365T>A	TOPMed
rs772174934	p.Ile213Val	missense variant	-	NC_000004.12:g.5733370A>G	ExAC,gnomAD
rs1215091473	p.Tyr214Cys	missense variant	-	NC_000004.12:g.5733374A>G	TOPMed
rs777946797	p.Tyr214His	missense variant	-	NC_000004.12:g.5733373T>C	ExAC,gnomAD
rs747203423	p.Ser215Arg	missense variant	-	NC_000004.12:g.5733378C>G	ExAC,gnomAD
rs373002232	p.Leu216Val	missense variant	-	NC_000004.12:g.5733379C>G	ESP,ExAC,TOPMed,gnomAD
rs776989981	p.His217Arg	missense variant	-	NC_000004.12:g.5733383A>G	ExAC,TOPMed,gnomAD
rs200294295	p.Asp220Glu	missense variant	-	NC_000004.12:g.5733393C>G	TOPMed,gnomAD
rs200294295	p.Asp220Glu	missense variant	-	NC_000004.12:g.5733393C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp220Tyr	missense variant	-	NC_000004.12:g.5733391G>T	NCI-TCGA
rs1318878744	p.Asp220Gly	missense variant	-	NC_000004.12:g.5733392A>G	TOPMed,gnomAD
rs770414518	p.Leu221Val	missense variant	-	NC_000004.12:g.5733394C>G	ExAC,TOPMed
COSM297284	p.Leu221Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5733394C>A	NCI-TCGA Cosmic
rs776205592	p.His223Pro	missense variant	-	NC_000004.12:g.5733401A>C	ExAC,gnomAD
rs776205592	p.His223Arg	missense variant	-	NC_000004.12:g.5733401A>G	ExAC,gnomAD
rs776205592	p.His223Leu	missense variant	-	NC_000004.12:g.5733401A>T	ExAC,gnomAD
rs1420664714	p.Asp225Gly	missense variant	-	NC_000004.12:g.5733407A>G	gnomAD
rs201583621	p.Thr226Met	missense variant	-	NC_000004.12:g.5733410C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000390476	p.Thr226Met	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5733410C>T	ClinVar
RCV000351265	p.Thr226Met	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5733410C>T	ClinVar
rs201583621	p.Thr226Met	missense variant	-	NC_000004.12:g.5733410C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201583621	p.Thr226Lys	missense variant	-	NC_000004.12:g.5733410C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245476089	p.Ala227Val	missense variant	-	NC_000004.12:g.5733413C>T	gnomAD
COSM1430358	p.Ala227Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5733412G>A	NCI-TCGA Cosmic
rs760306552	p.Leu228Met	missense variant	-	NC_000004.12:g.5733415C>A	ExAC,TOPMed,gnomAD
rs760306552	p.Leu228Val	missense variant	-	NC_000004.12:g.5733415C>G	ExAC,TOPMed,gnomAD
rs371664035	p.Lys232Asn	missense variant	-	NC_000004.12:g.5733429G>C	ExAC,TOPMed,gnomAD
rs754792099	p.Lys232Glu	missense variant	-	NC_000004.12:g.5733427A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys232SerPheSerTerUnk	frameshift	-	NC_000004.12:g.5733425A>-	NCI-TCGA
rs769431829	p.His233Arg	missense variant	-	NC_000004.12:g.5733431A>G	ExAC,TOPMed,gnomAD
rs769431829	p.His233Pro	missense variant	-	NC_000004.12:g.5733431A>C	ExAC,TOPMed,gnomAD
RCV000664817	p.His233Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5733431dup	ClinVar
rs769431829	p.His233Leu	missense variant	-	NC_000004.12:g.5733431A>T	ExAC,TOPMed,gnomAD
rs190661824	p.Met234Ile	missense variant	-	NC_000004.12:g.5733435G>C	1000Genomes,ExAC,gnomAD
rs190661824	p.Met234Ile	missense variant	-	NC_000004.12:g.5733435G>A	1000Genomes,ExAC,gnomAD
rs758352741	p.Met234Val	missense variant	-	NC_000004.12:g.5733433A>G	ExAC,gnomAD
rs1254905640	p.Met235Ile	missense variant	-	NC_000004.12:g.5741718G>A	TOPMed
rs746493687	p.Met235Thr	missense variant	-	NC_000004.12:g.5741717T>C	ExAC,gnomAD
COSM734059	p.Phe236Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5741720T>A	NCI-TCGA Cosmic
rs770396892	p.Gln238Ter	stop gained	-	NC_000004.12:g.5741725C>T	ExAC,TOPMed,gnomAD
rs1195994043	p.Gln238His	missense variant	-	NC_000004.12:g.5741727G>C	gnomAD
rs770396892	p.Gln238Glu	missense variant	-	NC_000004.12:g.5741725C>G	ExAC,TOPMed,gnomAD
RCV000674924	p.Phe240Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5741733del	ClinVar
rs759147384	p.Met242Ile	missense variant	-	NC_000004.12:g.5741739G>A	ExAC,gnomAD
rs1224632863	p.Cys243Phe	missense variant	-	NC_000004.12:g.5741741G>T	TOPMed,gnomAD
rs1224632863	p.Cys243Tyr	missense variant	-	NC_000004.12:g.5741741G>A	TOPMed,gnomAD
rs1213332263	p.Leu245Phe	missense variant	-	NC_000004.12:g.5741746C>T	TOPMed
rs144029167	p.Asp246Tyr	missense variant	-	NC_000004.12:g.5741749G>T	ESP,ExAC,TOPMed,gnomAD
RCV000005669	p.Asp246Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5741748del	ClinVar
RCV000672688	p.Lys252Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5741765dup	ClinVar
rs775209681	p.Ser253Ala	missense variant	-	NC_000004.12:g.5741770T>G	ExAC,gnomAD
rs762795511	p.Ser253Ter	stop gained	-	NC_000004.12:g.5741771C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp254Asn	missense variant	-	NC_000004.12:g.5741773G>A	NCI-TCGA
rs1286224731	p.Asp254Gly	missense variant	-	NC_000004.12:g.5741774A>G	TOPMed
rs751491143	p.Asp255Tyr	missense variant	-	NC_000004.12:g.5741776G>T	ExAC,gnomAD
rs761935549	p.Glu256Lys	missense variant	-	NC_000004.12:g.5741779G>A	ExAC,gnomAD
rs1553871815	p.LeuTyr257LeuHis	missense variant	-	NC_000004.12:g.5741782_5741785delinsTTAC	-
rs750565190	p.Leu257Pro	missense variant	-	NC_000004.12:g.5741783T>C	ExAC,gnomAD
rs750565190	p.Leu257Gln	missense variant	-	NC_000004.12:g.5741783T>A	ExAC,gnomAD
RCV000171373	p.Leu257Gln	missense variant	-	NC_000004.12:g.5741783T>A	ClinVar
RCV000297646	p.Tyr258His	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5741785T>C	ClinVar
rs754248576	p.Tyr258Cys	missense variant	-	NC_000004.12:g.5741786A>G	ExAC,gnomAD
RCV000179558	p.Tyr258His	missense variant	-	NC_000004.12:g.5741785T>C	ClinVar
RCV000400923	p.Tyr258His	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5741785T>C	ClinVar
RCV000506662	p.Tyr258His	missense variant	-	NC_000004.12:g.5741782_5741785delinsTTAC	ClinVar
rs6414624	p.Tyr258His	missense variant	-	NC_000004.12:g.5741785T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748201094	p.Tyr258Ter	stop gained	-	NC_000004.12:g.5741786dup	ExAC
rs1327859684	p.Gln259Lys	missense variant	-	NC_000004.12:g.5741788C>A	TOPMed
rs554073675	p.Gln259Arg	missense variant	-	NC_000004.12:g.5741789A>G	1000Genomes,ExAC,gnomAD
rs779448920	p.Lys260Gln	missense variant	-	NC_000004.12:g.5741791A>C	ExAC,TOPMed,gnomAD
rs748555065	p.Lys260Arg	missense variant	-	NC_000004.12:g.5741792A>G	ExAC,gnomAD
rs369832780	p.Ile261Ser	missense variant	-	NC_000004.12:g.5741795T>G	ESP,ExAC
rs369832780	p.Ile261Thr	missense variant	-	NC_000004.12:g.5741795T>C	ESP,ExAC
rs1292447793	p.Lys264Ile	missense variant	-	NC_000004.12:g.5741804A>T	gnomAD
rs1264020517	p.Lys267Glu	missense variant	-	NC_000004.12:g.5741812A>G	TOPMed,gnomAD
rs915103359	p.Asp268Tyr	missense variant	-	NC_000004.12:g.5745204G>T	gnomAD
rs915103359	p.Asp268Asn	missense variant	-	NC_000004.12:g.5745204G>A	gnomAD
rs747991962	p.Asp268Ala	missense variant	-	NC_000004.12:g.5745205A>C	ExAC,gnomAD
rs1255567860	p.Leu269Ter	stop gained	-	NC_000004.12:g.5745208T>A	gnomAD
rs1279239113	p.Glu270Lys	missense variant	-	NC_000004.12:g.5745210G>A	TOPMed,gnomAD
rs771897142	p.Glu271Lys	missense variant	-	NC_000004.12:g.5745213G>A	ExAC,TOPMed
NCI-TCGA novel	p.Lys274ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.5745220A>-	NCI-TCGA
rs1037859021	p.Lys274Thr	missense variant	-	NC_000004.12:g.5745223A>C	TOPMed
rs1345094264	p.Lys274Glu	missense variant	-	NC_000004.12:g.5745222A>G	gnomAD
rs1206421778	p.Gly275Arg	missense variant	-	NC_000004.12:g.5745225G>A	TOPMed,gnomAD
rs565481068	p.Gly275Val	missense variant	-	NC_000004.12:g.5745226G>T	1000Genomes,ExAC,gnomAD
rs1251648799	p.Gln277Ter	stop gained	-	NC_000004.12:g.5745231C>T	gnomAD
rs1472579214	p.Lys279Arg	missense variant	-	NC_000004.12:g.5745238A>G	gnomAD
rs1180633826	p.Ser281Leu	missense variant	-	NC_000004.12:g.5745244C>T	gnomAD
rs760812070	p.Asn282Asp	missense variant	-	NC_000004.12:g.5745246A>G	ExAC,gnomAD
rs367702379	p.Thr283Ala	missense variant	-	NC_000004.12:g.5745249A>G	ESP,ExAC,TOPMed,gnomAD
rs1176727775	p.Thr283Lys	missense variant	-	NC_000004.12:g.5745250C>A	gnomAD
rs370643731	p.Glu284Lys	missense variant	-	NC_000004.12:g.5745252G>A	ESP,ExAC,TOPMed,gnomAD
rs1464387798	p.Met285Val	missense variant	-	NC_000004.12:g.5745255A>G	gnomAD
rs139263450	p.Ser286Trp	missense variant	-	NC_000004.12:g.5745259C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139263450	p.Ser286Leu	missense variant	-	NC_000004.12:g.5745259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1286304794	p.Ala288Ser	missense variant	-	NC_000004.12:g.5745264G>T	TOPMed,gnomAD
rs1286304794	p.Ala288Thr	missense variant	-	NC_000004.12:g.5745264G>A	TOPMed,gnomAD
rs1347479870	p.Gly289Ala	missense variant	-	NC_000004.12:g.5745268G>C	gnomAD
rs764555992	p.Asp290Gly	missense variant	-	NC_000004.12:g.5745271A>G	ExAC
rs752110410	p.Ser291Pro	missense variant	-	NC_000004.12:g.5745273T>C	ExAC,gnomAD
rs757788315	p.Ser291Phe	missense variant	-	NC_000004.12:g.5745274C>T	ExAC
RCV000666798	p.Glu292Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745275dup	ClinVar
rs902304992	p.Glu292Asp	missense variant	-	NC_000004.12:g.5745278G>C	TOPMed,gnomAD
RCV000695327	p.Glu292Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745275dup	ClinVar
rs890722382	p.Tyr293His	missense variant	-	NC_000004.12:g.5745279T>C	TOPMed
rs1252316234	p.Tyr293Cys	missense variant	-	NC_000004.12:g.5745280A>G	TOPMed,gnomAD
rs779502889	p.Ile294Val	missense variant	-	NC_000004.12:g.5745282A>G	ExAC,TOPMed,gnomAD
rs754532508	p.Thr295Asn	missense variant	-	NC_000004.12:g.5745286C>A	ExAC,TOPMed,gnomAD
rs754532508	p.Thr295Ser	missense variant	-	NC_000004.12:g.5745286C>G	ExAC,TOPMed,gnomAD
rs754532508	p.Thr295Ile	missense variant	-	NC_000004.12:g.5745286C>T	ExAC,TOPMed,gnomAD
RCV000673355	p.Thr295Ser	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745286C>G	ClinVar
rs1344717487	p.Val299Glu	missense variant	-	NC_000004.12:g.5745298T>A	TOPMed
rs1344717487	p.Val299Ala	missense variant	-	NC_000004.12:g.5745298T>C	TOPMed
rs149529742	p.Glu300Ala	missense variant	-	NC_000004.12:g.5745301A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000309528	p.Glu300Ala	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5745301A>C	ClinVar
RCV000275488	p.Glu300Ala	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745301A>C	ClinVar
COSM280882	p.Glu300Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5745302A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys301Arg	missense variant	-	NC_000004.12:g.5745304A>G	NCI-TCGA
rs1432388146	p.Lys302Arg	missense variant	-	NC_000004.12:g.5745307A>G	TOPMed
rs1172079164	p.Lys302Glu	missense variant	-	NC_000004.12:g.5745306A>G	TOPMed,gnomAD
rs772037385	p.Glu305Lys	missense variant	-	NC_000004.12:g.5745315G>A	ExAC,TOPMed,gnomAD
rs1478294705	p.Tyr306Cys	missense variant	-	NC_000004.12:g.5745319A>G	TOPMed
RCV000779446	p.Tyr306Ter	nonsense	EVC-Related Disorders	NC_000004.12:g.5745320C>A	ClinVar
rs372548610	p.Ser307Cys	missense variant	-	NC_000004.12:g.5745322C>G	ESP,ExAC,TOPMed,gnomAD
rs121908426	p.Ser307Pro	missense variant	-	NC_000004.12:g.5745321T>C	ExAC,TOPMed,gnomAD
rs121908426	p.Ser307Pro	missense variant	Acrofacial dysostosis, Weyers type (WAD)	NC_000004.12:g.5745321T>C	UniProt,dbSNP
VAR_009944	p.Ser307Pro	missense variant	Acrofacial dysostosis, Weyers type (WAD)	NC_000004.12:g.5745321T>C	UniProt
RCV000005671	p.Ser307Pro	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745321T>C	ClinVar
RCV000366486	p.Ser307Cys	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745322C>G	ClinVar
RCV000269572	p.Ser307Cys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5745322C>G	ClinVar
rs1032117694	p.Glu308Gly	missense variant	-	NC_000004.12:g.5745325A>G	TOPMed,gnomAD
rs1365560975	p.Gln309Ter	stop gained	-	NC_000004.12:g.5745327C>T	gnomAD
rs145300726	p.Leu310Val	missense variant	-	NC_000004.12:g.5745330C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu310Arg	missense variant	-	NC_000004.12:g.5745331T>G	NCI-TCGA
RCV000689940	p.Leu310Val	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745330C>G	ClinVar
RCV000665471	p.Leu310Val	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745330C>G	ClinVar
rs759718572	p.Ile311Met	missense variant	-	NC_000004.12:g.5745335C>G	ExAC,gnomAD
rs115275195	p.Asp312Tyr	missense variant	-	NC_000004.12:g.5745336G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1396392046	p.Asp312Gly	missense variant	-	NC_000004.12:g.5745337A>G	gnomAD
rs115275195	p.Asp312Asn	missense variant	-	NC_000004.12:g.5745336G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000327158	p.Asp312Asn	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5745336G>A	ClinVar
RCV000379481	p.Asp312Asn	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745336G>A	ClinVar
rs764394644	p.Asn313Lys	missense variant	-	NC_000004.12:g.5745341T>A	ExAC,TOPMed,gnomAD
rs757159611	p.Met314Ile	missense variant	-	NC_000004.12:g.5748150G>A	ExAC,gnomAD
rs557010916	p.Met314Val	missense variant	-	NC_000004.12:g.5748148A>G	1000Genomes,ExAC,gnomAD
rs1387932988	p.Glu315Val	missense variant	-	NC_000004.12:g.5748152A>T	gnomAD
rs1338864424	p.Met321Ile	missense variant	-	NC_000004.12:g.5748171G>C	gnomAD
rs780972401	p.Met321Thr	missense variant	-	NC_000004.12:g.5748170T>C	ExAC,gnomAD
rs769651463	p.Ile324Val	missense variant	-	NC_000004.12:g.5748178A>G	ExAC,gnomAD
COSM1430359	p.Gln325Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748182A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His326Gln	missense variant	-	NC_000004.12:g.5748186C>G	NCI-TCGA
rs1449245290	p.His326Pro	missense variant	-	NC_000004.12:g.5748185A>C	TOPMed
rs1287282169	p.Phe327Leu	missense variant	-	NC_000004.12:g.5748187T>C	TOPMed
RCV000673224	p.Leu328Phe	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748190C>T	ClinVar
rs199916502	p.Leu328Phe	missense variant	-	NC_000004.12:g.5748190C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1224780540	p.Leu328Pro	missense variant	-	NC_000004.12:g.5748191T>C	gnomAD
rs768854884	p.Asp330Tyr	missense variant	-	NC_000004.12:g.5748196G>T	ExAC,gnomAD
rs1327792447	p.Gln331Glu	missense variant	-	NC_000004.12:g.5748199C>G	gnomAD
rs1345794075	p.Phe332Tyr	missense variant	-	NC_000004.12:g.5748203T>A	TOPMed
rs774625199	p.Lys333Gln	missense variant	-	NC_000004.12:g.5748205A>C	ExAC,gnomAD
rs762140246	p.Cys334Ser	missense variant	-	NC_000004.12:g.5748209G>C	ExAC,gnomAD
rs772431066	p.Ser335Pro	missense variant	-	NC_000004.12:g.5748211T>C	ExAC,TOPMed,gnomAD
rs1220070018	p.Ser335Cys	missense variant	-	NC_000004.12:g.5748212C>G	TOPMed
rs377390727	p.Ala339Thr	missense variant	-	NC_000004.12:g.5748223G>A	ESP,TOPMed
rs121908425	p.Arg340Ter	stop gained	-	NC_000004.12:g.5748226C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000807465	p.Arg340Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748226C>T	ClinVar
RCV000255270	p.Arg340Ter	nonsense	-	NC_000004.12:g.5748226C>T	ClinVar
rs775052481	p.Arg340Gln	missense variant	-	NC_000004.12:g.5748227G>A	ExAC,TOPMed,gnomAD
RCV000516113	p.Arg340Ter	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5748226C>T	ClinVar
RCV000005668	p.Arg340Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748226C>T	ClinVar
rs763807443	p.Met343Val	missense variant	-	NC_000004.12:g.5748235A>G	ExAC,TOPMed,gnomAD
rs1414084679	p.Met343Thr	missense variant	-	NC_000004.12:g.5748236T>C	gnomAD
rs1332636947	p.Met344Thr	missense variant	-	NC_000004.12:g.5748239T>C	gnomAD
rs1388312435	p.Leu346Val	missense variant	-	NC_000004.12:g.5748244C>G	gnomAD
RCV000414675	p.Leu346Ter	frameshift	-	NC_000004.12:g.5748242_5748243CT[1]	ClinVar
RCV000595526	p.Thr347Met	missense variant	-	NC_000004.12:g.5748248C>T	ClinVar
rs34947207	p.Thr347Met	missense variant	-	NC_000004.12:g.5748248C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1185144992	p.Met350Val	missense variant	-	NC_000004.12:g.5748256A>G	TOPMed
rs1226015091	p.Met350Thr	missense variant	-	NC_000004.12:g.5748257T>C	TOPMed,gnomAD
rs750190123	p.Ala352Val	missense variant	-	NC_000004.12:g.5748263C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala352Thr	missense variant	-	NC_000004.12:g.5748262G>A	NCI-TCGA
COSM3775910	p.Ala352Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748262G>T	NCI-TCGA Cosmic
rs779915989	p.Glu354Ter	stop gained	-	NC_000004.12:g.5748268G>T	ExAC,TOPMed,gnomAD
RCV000671655	p.Glu354Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748264_5748267dup	ClinVar
RCV000807466	p.Glu354Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748264_5748267dup	ClinVar
RCV000667721	p.Glu354Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748268G>T	ClinVar
rs779915989	p.Glu354Lys	missense variant	-	NC_000004.12:g.5748268G>A	ExAC,TOPMed,gnomAD
rs755096874	p.Gly355Glu	missense variant	-	NC_000004.12:g.5748272G>A	ExAC,gnomAD
rs1276257484	p.Gly355Arg	missense variant	-	NC_000004.12:g.5748271G>A	gnomAD
rs921573510	p.Cys358Trp	missense variant	-	NC_000004.12:g.5748282C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp359Tyr	missense variant	-	NC_000004.12:g.5748283G>T	NCI-TCGA
rs150923920	p.Asp359Asn	missense variant	-	NC_000004.12:g.5748283G>A	ESP,ExAC,TOPMed,gnomAD
RCV000302177	p.Asp359Asn	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5748283G>A	ClinVar
RCV000390980	p.Asp359Asn	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5748283G>A	ClinVar
NCI-TCGA novel	p.Ser360Phe	missense variant	-	NC_000004.12:g.5748287C>T	NCI-TCGA
COSM1056306	p.Ser360Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748287C>A	NCI-TCGA Cosmic
rs886043999	p.Gln361Arg	missense variant	-	NC_000004.12:g.5748290A>G	TOPMed
rs772185282	p.Gln361His	missense variant	-	NC_000004.12:g.5748291G>C	ExAC,gnomAD
RCV000393137	p.Gln361Arg	missense variant	-	NC_000004.12:g.5748290A>G	ClinVar
rs1233221140	p.Leu363Val	missense variant	-	NC_000004.12:g.5748295C>G	TOPMed,gnomAD
rs1170972234	p.Gln364Arg	missense variant	-	NC_000004.12:g.5748299A>G	TOPMed,gnomAD
rs771462565	p.Ala365Asp	missense variant	-	NC_000004.12:g.5748302C>A	ExAC,TOPMed,gnomAD
rs370388849	p.Ala365Thr	missense variant	-	NC_000004.12:g.5748301G>A	ESP,ExAC,TOPMed,gnomAD
COSM6100779	p.Ala365Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748301G>T	NCI-TCGA Cosmic
COSM4125305	p.Ala365Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748302C>T	NCI-TCGA Cosmic
rs765215512	p.Asp367Gly	missense variant	-	NC_000004.12:g.5752837A>G	ExAC,TOPMed,gnomAD
rs145645536	p.Ala368Thr	missense variant	-	NC_000004.12:g.5752839G>A	ESP,ExAC,TOPMed,gnomAD
rs1314116531	p.Ala368Asp	missense variant	-	NC_000004.12:g.5752840C>A	gnomAD
RCV000345171	p.Ala368Thr	missense variant	-	NC_000004.12:g.5752839G>A	ClinVar
rs1429210509	p.Leu369Pro	missense variant	-	NC_000004.12:g.5752843T>C	TOPMed
NCI-TCGA novel	p.Glu370Ter	stop gained	-	NC_000004.12:g.5752845G>T	NCI-TCGA
NCI-TCGA novel	p.Glu370Asp	missense variant	-	NC_000004.12:g.5752847G>T	NCI-TCGA
rs778032532	p.Glu370Val	missense variant	-	NC_000004.12:g.5752846A>T	ExAC,TOPMed,gnomAD
rs778032532	p.Glu370Ala	missense variant	-	NC_000004.12:g.5752846A>C	ExAC,TOPMed,gnomAD
rs1456808638	p.Arg371Thr	missense variant	-	NC_000004.12:g.5752849G>C	gnomAD
rs1160976282	p.Arg371Ser	missense variant	-	NC_000004.12:g.5752850G>C	TOPMed,gnomAD
RCV000755524	p.Thr372Met	missense variant	-	NC_000004.12:g.5752852C>T	ClinVar
RCV000251776	p.Thr372Met	missense variant	-	NC_000004.12:g.5752852C>T	ClinVar
RCV000317189	p.Thr372Met	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5752852C>T	ClinVar
RCV000353262	p.Thr372Met	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5752852C>T	ClinVar
rs28483498	p.Thr372Lys	missense variant	-	NC_000004.12:g.5752852C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28483498	p.Thr372Met	missense variant	-	NC_000004.12:g.5752852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1397539769	p.Met373Ile	missense variant	-	NC_000004.12:g.5752856G>A	TOPMed,gnomAD
rs1397539769	p.Met373Ile	missense variant	-	NC_000004.12:g.5752856G>C	TOPMed,gnomAD
rs1319469297	p.Met373Leu	missense variant	-	NC_000004.12:g.5752854A>T	gnomAD
rs746250083	p.Met373Thr	missense variant	-	NC_000004.12:g.5752855T>C	ExAC,gnomAD
rs1313399444	p.Gly374Glu	missense variant	-	NC_000004.12:g.5752858G>A	gnomAD
rs780775899	p.Arg375Gln	missense variant	-	NC_000004.12:g.5752861G>A	ExAC,gnomAD
rs368492656	p.Arg375Trp	missense variant	-	NC_000004.12:g.5752860C>T	ESP,ExAC,TOPMed,gnomAD
rs142535134	p.Ala376Val	missense variant	-	NC_000004.12:g.5752864C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000180707	p.Ala376Val	missense variant	-	NC_000004.12:g.5752864C>T	ClinVar
COSM4125308	p.His377Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5752866C>T	NCI-TCGA Cosmic
rs952842883	p.Met378Val	missense variant	-	NC_000004.12:g.5752869A>G	TOPMed,gnomAD
rs760174792	p.Ala379Thr	missense variant	-	NC_000004.12:g.5752872G>A	ExAC,gnomAD
rs770580557	p.Ala379Glu	missense variant	-	NC_000004.12:g.5752873C>A	ExAC,gnomAD
rs770580557	p.Ala379Val	missense variant	-	NC_000004.12:g.5752873C>T	ExAC,gnomAD
rs1307577075	p.Lys380Asn	missense variant	-	NC_000004.12:g.5752877A>C	TOPMed
rs1292131570	p.Val381Ala	missense variant	-	NC_000004.12:g.5752879T>C	TOPMed
rs886059505	p.Ile382Thr	missense variant	-	NC_000004.12:g.5752882T>C	-
RCV000292576	p.Ile382Thr	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5752882T>C	ClinVar
RCV000386985	p.Ile382Thr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5752882T>C	ClinVar
rs1201423468	p.Glu383Gly	missense variant	-	NC_000004.12:g.5752885A>G	gnomAD
rs200370960	p.Leu387Pro	missense variant	-	NC_000004.12:g.5752897T>C	1000Genomes
rs375511470	p.Gln388His	missense variant	-	NC_000004.12:g.5752901A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val389Ile	missense variant	-	NC_000004.12:g.5752902G>A	NCI-TCGA
rs752626166	p.Glu392Asp	missense variant	-	NC_000004.12:g.5752913G>T	ExAC,gnomAD
rs762412181	p.Arg396Gly	missense variant	-	NC_000004.12:g.5752923C>G	ExAC,TOPMed,gnomAD
rs542667023	p.Arg396Pro	missense variant	-	NC_000004.12:g.5752924G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs542667023	p.Arg396Gln	missense variant	-	NC_000004.12:g.5752924G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762412181	p.Arg396Trp	missense variant	-	NC_000004.12:g.5752923C>T	ExAC,TOPMed,gnomAD
rs1462940541	p.Ala399Thr	missense variant	-	NC_000004.12:g.5752932G>A	TOPMed
rs781622764	p.Ile400Val	missense variant	-	NC_000004.12:g.5752935A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser401Phe	missense variant	-	NC_000004.12:g.5752939C>T	NCI-TCGA
rs756589627	p.His402Gln	missense variant	-	NC_000004.12:g.5752943C>A	ExAC,TOPMed,gnomAD
rs1303234245	p.His402Tyr	missense variant	-	NC_000004.12:g.5752941C>T	gnomAD
rs183114391	p.Gly403Ser	missense variant	-	NC_000004.12:g.5752944G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs183114391	p.Gly403Arg	missense variant	-	NC_000004.12:g.5752944G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1430269582	p.Ala408Pro	missense variant	-	NC_000004.12:g.5752959G>C	TOPMed,gnomAD
rs1351243545	p.Ala408Val	missense variant	-	NC_000004.12:g.5752960C>T	gnomAD
rs1430269582	p.Ala408Ser	missense variant	-	NC_000004.12:g.5752959G>T	TOPMed,gnomAD
COSM4125310	p.Ala408Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5752959G>A	NCI-TCGA Cosmic
rs1015770093	p.Gly411Arg	missense variant	-	NC_000004.12:g.5752968G>C	TOPMed
rs749715176	p.Gly411Glu	missense variant	-	NC_000004.12:g.5752969G>A	ExAC,TOPMed,gnomAD
rs1286728209	p.Leu413Gln	missense variant	-	NC_000004.12:g.5752975T>A	gnomAD
rs976762492	p.Ser414Phe	missense variant	-	NC_000004.12:g.5752978C>T	TOPMed
rs778330232	p.Gly415Arg	missense variant	-	NC_000004.12:g.5752980G>C	ExAC,TOPMed,gnomAD
rs778330232	p.Gly415Arg	missense variant	-	NC_000004.12:g.5752980G>A	ExAC,TOPMed,gnomAD
rs113986714	p.Arg416Trp	missense variant	-	NC_000004.12:g.5752983C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745640537	p.Arg416Gln	missense variant	-	NC_000004.12:g.5752984G>A	ExAC,TOPMed,gnomAD
RCV000305653	p.Arg416Gln	missense variant	-	NC_000004.12:g.5752984G>A	ClinVar
rs1293538371	p.Gln417Arg	missense variant	-	NC_000004.12:g.5752987A>G	TOPMed
RCV000333682	p.Glu420Lys	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5752995G>A	ClinVar
RCV000388139	p.Glu420Lys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5752995G>A	ClinVar
rs985917734	p.Glu420Asp	missense variant	-	NC_000004.12:g.5752997G>C	TOPMed,gnomAD
rs373502728	p.Glu420Lys	missense variant	-	NC_000004.12:g.5752995G>A	ESP,ExAC,gnomAD
rs373502728	p.Glu420Ter	stop gained	-	NC_000004.12:g.5752995G>T	ESP,ExAC,gnomAD
rs775388162	p.Leu421Val	missense variant	-	NC_000004.12:g.5752998C>G	ExAC,gnomAD
rs764108542	p.Thr423Met	missense variant	-	NC_000004.12:g.5753005C>T	ExAC,TOPMed,gnomAD
rs1464342632	p.Gln424His	missense variant	-	NC_000004.12:g.5753009G>T	gnomAD
rs762053519	p.Lys427Arg	missense variant	-	NC_000004.12:g.5753017A>G	ExAC,gnomAD
rs767819783	p.Ala428Thr	missense variant	-	NC_000004.12:g.5753019G>A	ExAC,TOPMed,gnomAD
rs1409088904	p.Ala428Val	missense variant	-	NC_000004.12:g.5753020C>T	gnomAD
rs1369739494	p.Glu432Lys	missense variant	-	NC_000004.12:g.5753031G>A	gnomAD
rs1300834404	p.Ala433Gly	missense variant	-	NC_000004.12:g.5753035C>G	gnomAD
rs374813665	p.Ala433Ser	missense variant	-	NC_000004.12:g.5753034G>T	ESP,ExAC,TOPMed,gnomAD
rs1300834404	p.Ala433Val	missense variant	-	NC_000004.12:g.5753035C>T	gnomAD
rs138898694	p.Arg435His	missense variant	-	NC_000004.12:g.5753041G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756430334	p.Arg435Cys	missense variant	-	NC_000004.12:g.5753040C>T	ExAC,TOPMed,gnomAD
rs1275747678	p.Ser437Thr	missense variant	-	NC_000004.12:g.5753047G>C	TOPMed,gnomAD
rs1275747678	p.Ser437Ile	missense variant	-	NC_000004.12:g.5753047G>T	TOPMed,gnomAD
RCV000288633	p.Arg438Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753050G>A	ClinVar
RCV000343630	p.Arg438Gln	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753050G>A	ClinVar
rs373718642	p.Arg438Leu	missense variant	-	NC_000004.12:g.5753050G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754239541	p.Arg438Gly	missense variant	-	NC_000004.12:g.5753049C>G	ExAC,TOPMed,gnomAD
rs754239541	p.Arg438Trp	missense variant	-	NC_000004.12:g.5753049C>T	ExAC,TOPMed,gnomAD
rs373718642	p.Arg438Gln	missense variant	-	NC_000004.12:g.5753050G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000693001	p.Arg438Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753049del	ClinVar
rs766679717	p.Glu439Val	missense variant	-	NC_000004.12:g.5753785A>T	ExAC,gnomAD
rs1342709827	p.Phe440Leu	missense variant	-	NC_000004.12:g.5753787T>C	TOPMed
RCV000153203	p.Phe440Leu	missense variant	-	NC_000004.12:g.5753789T>A	ClinVar
RCV000397131	p.Phe440Leu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753789T>A	ClinVar
RCV000290222	p.Phe440Leu	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753789T>A	ClinVar
rs60582583	p.Phe440Leu	missense variant	-	NC_000004.12:g.5753789T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000548805	p.Phe440Leu	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753789T>A	ClinVar
rs202150959	p.Val441Ile	missense variant	-	NC_000004.12:g.5753790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753152908	p.Gln442Ter	stop gained	-	NC_000004.12:g.5753793C>T	ExAC,gnomAD
rs35953626	p.Arg443Gln	missense variant	-	NC_000004.12:g.5753797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35953626	p.Arg443Gln	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5753797G>A	UniProt,dbSNP
VAR_009946	p.Arg443Gln	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5753797G>A	UniProt
RCV000005670	p.Arg443Gln	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753797G>A	ClinVar
rs116952023	p.Lys445Gln	missense variant	-	NC_000004.12:g.5753802A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000305375	p.Lys445Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753802A>C	ClinVar
RCV000399659	p.Lys445Gln	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753802A>C	ClinVar
rs1286504042	p.Asp446Tyr	missense variant	-	NC_000004.12:g.5753805G>T	gnomAD
rs745395865	p.Thr449Ala	missense variant	-	NC_000004.12:g.5753814A>G	ExAC,TOPMed,gnomAD
RCV000360127	p.Thr449Lys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753815C>A	ClinVar
RCV000153204	p.Thr449Lys	missense variant	-	NC_000004.12:g.5753815C>A	ClinVar
rs2302075	p.Thr449Lys	missense variant	-	NC_000004.12:g.5753815C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2302075	p.Thr449Lys	missense variant	-	NC_000004.12:g.5753815C>A	UniProt,dbSNP
VAR_009947	p.Thr449Lys	missense variant	-	NC_000004.12:g.5753815C>A	UniProt
rs2302075	p.Thr449Met	missense variant	-	NC_000004.12:g.5753815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2302075	p.Thr449Arg	missense variant	-	NC_000004.12:g.5753815C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000390155	p.Thr449Lys	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753815C>A	ClinVar
rs749008952	p.Ala450Val	missense variant	-	NC_000004.12:g.5753818C>T	ExAC,TOPMed,gnomAD
RCV000306837	p.Ala450Val	missense variant	-	NC_000004.12:g.5753818C>T	ClinVar
COSM3373523	p.Ala450Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753818C>A	NCI-TCGA Cosmic
rs778599838	p.Ala453Gly	missense variant	-	NC_000004.12:g.5753827C>G	ExAC,TOPMed,gnomAD
rs748062945	p.His454Tyr	missense variant	-	NC_000004.12:g.5753829C>T	ExAC,TOPMed,gnomAD
rs773408319	p.Val456Ala	missense variant	-	NC_000004.12:g.5753836T>C	ExAC,TOPMed,gnomAD
rs141859946	p.Glu457Lys	missense variant	-	NC_000004.12:g.5753838G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000542079	p.Glu457Lys	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753838G>A	ClinVar
RCV000671758	p.Gly458Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753842del	ClinVar
rs146028983	p.Thr459Arg	missense variant	-	NC_000004.12:g.5753845C>G	ESP,ExAC,TOPMed,gnomAD
rs146028983	p.Thr459Met	missense variant	-	NC_000004.12:g.5753845C>T	ESP,ExAC,TOPMed,gnomAD
rs1309149029	p.Ala460Val	missense variant	-	NC_000004.12:g.5753848C>T	TOPMed,gnomAD
rs202205463	p.Lys461Asn	missense variant	-	NC_000004.12:g.5753852A>C	1000Genomes,TOPMed
rs1473605830	p.Thr463Arg	missense variant	-	NC_000004.12:g.5753857C>G	gnomAD
rs1473605830	p.Thr463Met	missense variant	-	NC_000004.12:g.5753857C>T	gnomAD
rs1388137619	p.Ala465Val	missense variant	-	NC_000004.12:g.5753863C>T	gnomAD
rs753064604	p.Gln466Glu	missense variant	-	NC_000004.12:g.5753865C>G	ExAC,gnomAD
rs1448153672	p.Glu467Ala	missense variant	-	NC_000004.12:g.5753869A>C	TOPMed
rs763393820	p.Glu467Lys	missense variant	-	NC_000004.12:g.5753868G>A	ExAC,gnomAD
rs764643954	p.Glu468Asp	missense variant	-	NC_000004.12:g.5753873G>C	ExAC,TOPMed,gnomAD
rs1448031323	p.Glu469Lys	missense variant	-	NC_000004.12:g.5753874G>A	gnomAD
rs779553464	p.Gln470Arg	missense variant	-	NC_000004.12:g.5753878A>G	ExAC,gnomAD
COSM447976	p.Arg471Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753881G>A	NCI-TCGA Cosmic
RCV000534638	p.Ser472Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753874_5753884dup	ClinVar
rs1391751541	p.Phe473Leu	missense variant	-	NC_000004.12:g.5753886T>C	TOPMed
RCV000756096	p.Phe473Ter	frameshift	-	NC_000004.12:g.5753885del	ClinVar
rs1452792407	p.Leu474Pro	missense variant	-	NC_000004.12:g.5753890T>C	TOPMed
COSM3696696	p.Leu474Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753889C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala475Ser	missense variant	-	NC_000004.12:g.5753892G>T	NCI-TCGA
RCV000275335	p.Glu476Asp	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753897G>C	ClinVar
rs571637567	p.Glu476Asp	missense variant	-	NC_000004.12:g.5753897G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000330181	p.Glu476Asp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753897G>C	ClinVar
rs778787222	p.Gln478Ter	stop gained	-	NC_000004.12:g.5753901C>T	ExAC,gnomAD
rs748009991	p.Pro479Leu	missense variant	-	NC_000004.12:g.5753905C>T	ExAC,TOPMed,gnomAD
rs372893834	p.Thr480Ser	missense variant	-	NC_000004.12:g.5753908C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr480Ile	missense variant	-	NC_000004.12:g.5753908C>T	NCI-TCGA
rs1484098544	p.Ala481Pro	missense variant	-	NC_000004.12:g.5753910G>C	TOPMed,gnomAD
rs1183020554	p.Asp482Asn	missense variant	-	NC_000004.12:g.5753913G>A	gnomAD
NCI-TCGA novel	p.Asp482Tyr	missense variant	-	NC_000004.12:g.5753913G>T	NCI-TCGA
RCV000547448	p.Pro483Leu	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753917C>T	ClinVar
rs376440801	p.Pro483Leu	missense variant	-	NC_000004.12:g.5753917C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754316550	p.Lys485Asn	missense variant	-	NC_000004.12:g.5753924G>C	gnomAD
COSM1430362	p.Leu487Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753928C>A	NCI-TCGA Cosmic
rs764556070	p.Glu488Ala	missense variant	-	NC_000004.12:g.5753932A>C	ExAC,gnomAD
rs146232611	p.Glu488Lys	missense variant	-	NC_000004.12:g.5753931G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000276458	p.Glu488Lys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753931G>A	ClinVar
rs764556070	p.Glu488Gly	missense variant	-	NC_000004.12:g.5753932A>G	ExAC,gnomAD
RCV000370878	p.Glu488Lys	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753931G>A	ClinVar
RCV000326791	p.Glu488Gly	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753932A>G	ClinVar
RCV000381659	p.Glu488Gly	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753932A>G	ClinVar
rs763914751	p.His491Arg	missense variant	-	NC_000004.12:g.5756271A>G	ExAC,gnomAD
rs763914751	p.His491Pro	missense variant	-	NC_000004.12:g.5756271A>C	ExAC,gnomAD
rs768749804	p.His491Gln	missense variant	-	NC_000004.12:g.5756272T>G	TOPMed,gnomAD
RCV000672495	p.Glu492Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5756272dup	ClinVar
NCI-TCGA novel	p.Glu495Ter	stop gained	-	NC_000004.12:g.5756282G>T	NCI-TCGA
rs1223331343	p.Glu495Gln	missense variant	-	NC_000004.12:g.5756282G>C	gnomAD
rs1390748682	p.Arg496Ser	missense variant	-	NC_000004.12:g.5756287G>T	gnomAD
rs1460597472	p.Gln497Ter	stop gained	-	NC_000004.12:g.5756288C>T	gnomAD
RCV000779447	p.Gln497Ter	nonsense	EVC-Related Disorders	NC_000004.12:g.5756288C>T	ClinVar
rs139157869	p.Leu499Val	missense variant	-	NC_000004.12:g.5756294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390628791	p.Met500Val	missense variant	-	NC_000004.12:g.5756297A>G	gnomAD
rs149898884	p.Met500Ile	missense variant	-	NC_000004.12:g.5756299G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000603958	p.Met500Ile	missense variant	-	NC_000004.12:g.5756299G>A	ClinVar
rs373088008	p.Gln501Glu	missense variant	-	NC_000004.12:g.5756300C>G	ESP,ExAC,TOPMed,gnomAD
rs138171411	p.Glu505Gln	missense variant	-	NC_000004.12:g.5756312G>C	1000Genomes,ExAC,gnomAD
rs202068809	p.Glu507Gly	missense variant	-	NC_000004.12:g.5756319A>G	ESP,TOPMed,gnomAD
rs749475050	p.Glu507Lys	missense variant	-	NC_000004.12:g.5756318G>A	ExAC,gnomAD
COSM4817131	p.Glu507Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5756318G>C	NCI-TCGA Cosmic
RCV000291987	p.Glu508Gly	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5756322A>G	ClinVar
RCV000328120	p.Glu508Gly	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5756322A>G	ClinVar
rs370721640	p.Glu508Gly	missense variant	-	NC_000004.12:g.5756322A>G	ESP,ExAC,TOPMed,gnomAD
rs143971158	p.Val510Leu	missense variant	-	NC_000004.12:g.5756327G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748524352	p.Val510Ala	missense variant	-	NC_000004.12:g.5756328T>C	ExAC,gnomAD
rs143971158	p.Val510Ile	missense variant	-	NC_000004.12:g.5756327G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000283807	p.Val510Ile	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5756327G>A	ClinVar
RCV000378158	p.Val510Ile	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5756327G>A	ClinVar
RCV000756095	p.Val510Ile	missense variant	-	NC_000004.12:g.5756327G>A	ClinVar
RCV000613661	p.Val510Ile	missense variant	-	NC_000004.12:g.5756327G>A	ClinVar
NCI-TCGA novel	p.Glu514Ter	stop gained	-	NC_000004.12:g.5756339G>T	NCI-TCGA
rs141896077	p.Glu514Lys	missense variant	-	NC_000004.12:g.5756339G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000260082	p.Glu514Lys	missense variant	-	NC_000004.12:g.5756339G>A	ClinVar
RCV000527392	p.Glu514Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5756338del	ClinVar
NCI-TCGA novel	p.Val517Gly	missense variant	-	NC_000004.12:g.5756349T>G	NCI-TCGA
RCV000625588	p.Leu519Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5756353dup	ClinVar
NCI-TCGA novel	p.Gln521Arg	missense variant	-	NC_000004.12:g.5756361A>G	NCI-TCGA
rs1162403519	p.Gln521His	missense variant	-	NC_000004.12:g.5756362G>C	gnomAD
rs771560788	p.Phe525Cys	missense variant	-	NC_000004.12:g.5783562T>G	ExAC,TOPMed,gnomAD
rs1472113917	p.Phe525Leu	missense variant	-	NC_000004.12:g.5783561T>C	gnomAD
rs781774727	p.Ser526Gly	missense variant	-	NC_000004.12:g.5783564A>G	ExAC,gnomAD
rs144252684	p.Val528Met	missense variant	-	NC_000004.12:g.5783570G>A	ESP,ExAC,TOPMed,gnomAD
rs144252684	p.Val528Leu	missense variant	-	NC_000004.12:g.5783570G>C	ESP,ExAC,TOPMed,gnomAD
rs761329283	p.Thr530Ala	missense variant	-	NC_000004.12:g.5783576A>G	ExAC,gnomAD
rs1475565623	p.Phe531Cys	missense variant	-	NC_000004.12:g.5783580T>G	TOPMed,gnomAD
rs771775185	p.Phe531Leu	missense variant	-	NC_000004.12:g.5783581C>G	ExAC,TOPMed,gnomAD
rs771775185	p.Phe531Leu	missense variant	-	NC_000004.12:g.5783581C>A	ExAC,TOPMed,gnomAD
rs1475565623	p.Phe531Ser	missense variant	-	NC_000004.12:g.5783580T>C	TOPMed,gnomAD
rs760498505	p.Phe534Leu	missense variant	-	NC_000004.12:g.5783588T>C	ExAC,gnomAD
rs766294209	p.Phe534Leu	missense variant	-	NC_000004.12:g.5783590C>A	ExAC,TOPMed,gnomAD
rs753720935	p.Val535Met	missense variant	-	NC_000004.12:g.5783591G>A	ExAC,TOPMed,gnomAD
rs753720935	p.Val535Leu	missense variant	-	NC_000004.12:g.5783591G>C	ExAC,TOPMed,gnomAD
rs147772724	p.Leu538Val	missense variant	-	NC_000004.12:g.5783600C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1262044602	p.Phe539Leu	missense variant	-	NC_000004.12:g.5783605C>A	TOPMed
rs1484590084	p.Phe539Ser	missense variant	-	NC_000004.12:g.5783604T>C	TOPMed
rs764417990	p.Thr542Met	missense variant	-	NC_000004.12:g.5783613C>T	ExAC,TOPMed,gnomAD
rs751967791	p.Leu543Phe	missense variant	-	NC_000004.12:g.5783615C>T	ExAC,gnomAD
rs142600114	p.Gly545Cys	missense variant	-	NC_000004.12:g.5783621G>T	ESP,ExAC,gnomAD
RCV000280364	p.Met546Val	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5783624A>G	ClinVar
RCV000334261	p.Met546Val	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5783624A>G	ClinVar
rs112608085	p.Met546Val	missense variant	-	NC_000004.12:g.5783624A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1225766769	p.Met546Ile	missense variant	-	NC_000004.12:g.5783626G>T	TOPMed
RCV000756097	p.Met546Val	missense variant	-	NC_000004.12:g.5783624A>G	ClinVar
RCV000441601	p.Met546Val	missense variant	-	NC_000004.12:g.5783624A>G	ClinVar
rs778234206	p.Pro550Ala	missense variant	-	NC_000004.12:g.5783636C>G	ExAC,gnomAD
rs747739985	p.Pro550His	missense variant	-	NC_000004.12:g.5783637C>A	ExAC,TOPMed,gnomAD
rs1255415484	p.Pro551Ser	missense variant	-	NC_000004.12:g.5783639C>T	TOPMed,gnomAD
rs371682994	p.Pro551Leu	missense variant	-	NC_000004.12:g.5783640C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371682994	p.Pro551Arg	missense variant	-	NC_000004.12:g.5783640C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs371682994	p.Pro551Gln	missense variant	-	NC_000004.12:g.5783640C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000792557	p.Pro551Leu	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783640C>T	ClinVar
RCV000591470	p.Pro551Leu	missense variant	-	NC_000004.12:g.5783640C>T	ClinVar
COSM1430365	p.Pro551ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5783635C>-	NCI-TCGA Cosmic
rs140567069	p.Glu553Gly	missense variant	-	NC_000004.12:g.5783646A>G	ESP,ExAC
NCI-TCGA novel	p.Glu553Val	missense variant	-	NC_000004.12:g.5783646A>T	NCI-TCGA
rs1429789444	p.GluCysAsp553GluTerUnk	stop gained	-	NC_000004.12:g.5783650_5783651del	TOPMed
rs150425919	p.Glu553Asp	missense variant	-	NC_000004.12:g.5783647G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770649751	p.Glu553Lys	missense variant	-	NC_000004.12:g.5783645G>A	ExAC,TOPMed,gnomAD
rs200641549	p.Tyr556Ser	missense variant	-	NC_000004.12:g.5783655A>C	gnomAD
rs765269619	p.Tyr556Ter	stop gained	-	NC_000004.12:g.5783656C>G	ExAC,TOPMed,gnomAD
rs200641549	p.Tyr556Phe	missense variant	-	NC_000004.12:g.5783655A>T	gnomAD
RCV000516024	p.Tyr556Ter	nonsense	Ellis-van Creveld Syndrome	NC_000004.12:g.5783656C>G	ClinVar
COSM1430366	p.Tyr556Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5783655A>G	NCI-TCGA Cosmic
rs1376618009	p.Leu557Phe	missense variant	-	NC_000004.12:g.5783659G>C	TOPMed,gnomAD
rs775402958	p.Arg558Thr	missense variant	-	NC_000004.12:g.5783661G>C	ExAC,TOPMed,gnomAD
rs775402958	p.Arg558Met	missense variant	-	NC_000004.12:g.5783661G>T	ExAC,TOPMed,gnomAD
rs775402958	p.Arg558Lys	missense variant	-	NC_000004.12:g.5783661G>A	ExAC,TOPMed,gnomAD
rs763159754	p.Gln559Arg	missense variant	-	NC_000004.12:g.5783664A>G	ExAC,gnomAD
rs1444005675	p.Glu560Val	missense variant	-	NC_000004.12:g.5783667A>T	gnomAD
rs764397417	p.Glu560Ter	stop gained	-	NC_000004.12:g.5783666G>T	ExAC,TOPMed,gnomAD
RCV000668673	p.Glu560Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783666G>T	ClinVar
rs751772225	p.Gln562Ter	stop gained	-	NC_000004.12:g.5783672C>T	ExAC,gnomAD
rs757556019	p.Gln562Arg	missense variant	-	NC_000004.12:g.5783673A>G	ExAC,gnomAD
RCV000537700	p.Gln562Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783672C>T	ClinVar
rs539010490	p.Glu563Ter	stop gained	-	NC_000004.12:g.5783675G>T	1000Genomes,ExAC,gnomAD
rs539010490	p.Glu563Lys	missense variant	-	NC_000004.12:g.5783675G>A	1000Genomes,ExAC,gnomAD
rs1278366226	p.Asn564Ser	missense variant	-	NC_000004.12:g.5783679A>G	gnomAD
rs138242443	p.Asn564Lys	missense variant	-	NC_000004.12:g.5783680C>G	ESP,ExAC,TOPMed,gnomAD
rs141299077	p.Ala565Val	missense variant	-	NC_000004.12:g.5783682C>T	ESP,ExAC,TOPMed,gnomAD
rs141299077	p.Ala565Gly	missense variant	-	NC_000004.12:g.5783682C>G	ESP,ExAC,TOPMed,gnomAD
rs926749491	p.Ala565Thr	missense variant	-	NC_000004.12:g.5783681G>A	TOPMed,gnomAD
RCV000804230	p.Ala565Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783682del	ClinVar
RCV000666228	p.Ala565Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783682del	ClinVar
rs144943762	p.Ala566Pro	missense variant	-	NC_000004.12:g.5783684G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000300276	p.Ala566Thr	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5783684G>A	ClinVar
RCV000400680	p.Ala566Thr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5783684G>A	ClinVar
rs144943762	p.Ala566Thr	missense variant	-	NC_000004.12:g.5783684G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1468759490	p.Trp567Ter	stop gained	-	NC_000004.12:g.5783688G>A	gnomAD
rs1193301611	p.Gln568Lys	missense variant	-	NC_000004.12:g.5783690C>A	gnomAD
NCI-TCGA novel	p.Gln568Ter	stop gained	-	NC_000004.12:g.5783690C>T	NCI-TCGA
rs138821019	p.Leu569Val	missense variant	-	NC_000004.12:g.5783693C>G	ESP,ExAC,TOPMed,gnomAD
rs1373148885	p.Asn573Asp	missense variant	-	NC_000004.12:g.5783705A>G	gnomAD
rs141820870	p.Arg574Gly	missense variant	-	NC_000004.12:g.5783708C>G	ESP,ExAC,TOPMed,gnomAD
rs141820870	p.Arg574Cys	missense variant	-	NC_000004.12:g.5783708C>T	ESP,ExAC,TOPMed,gnomAD
rs1328905724	p.Arg574His	missense variant	-	NC_000004.12:g.5783709G>A	TOPMed,gnomAD
rs1328905724	p.Arg574Leu	missense variant	-	NC_000004.12:g.5783709G>T	TOPMed,gnomAD
rs141820870	p.Arg574Ser	missense variant	-	NC_000004.12:g.5783708C>A	ESP,ExAC,TOPMed,gnomAD
rs1383180	p.Arg576Leu	missense variant	-	NC_000004.12:g.5783715G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769614620	p.Arg576Gly	missense variant	-	NC_000004.12:g.5783714C>G	ExAC,TOPMed,gnomAD
rs769614620	p.Arg576Trp	missense variant	-	NC_000004.12:g.5783714C>T	ExAC,TOPMed,gnomAD
rs1383180	p.Arg576Gln	missense variant	-	NC_000004.12:g.5783715G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000369969	p.Arg576Gln	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5783715G>A	ClinVar
RCV000254232	p.Arg576Gln	missense variant	-	NC_000004.12:g.5783715G>A	ClinVar
RCV000315414	p.Arg576Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5783715G>A	ClinVar
rs768788576	p.Gln579His	missense variant	-	NC_000004.12:g.5783725G>T	ExAC,TOPMed,gnomAD
RCV000523262	p.Leu582Val	missense variant	-	NC_000004.12:g.5783732C>G	ClinVar
rs367863826	p.Leu582Val	missense variant	-	NC_000004.12:g.5783732C>G	ESP,ExAC,TOPMed,gnomAD
rs1244390887	p.Phe583Leu	missense variant	-	NC_000004.12:g.5783737C>G	TOPMed
rs1301130028	p.Leu586Ile	missense variant	-	NC_000004.12:g.5783744C>A	gnomAD
rs1344456682	p.Leu586His	missense variant	-	NC_000004.12:g.5783745T>A	gnomAD
rs1224044727	p.Gln591His	missense variant	-	NC_000004.12:g.5783761G>C	gnomAD
rs1205106531	p.Val593Glu	missense variant	-	NC_000004.12:g.5793609T>A	TOPMed,gnomAD
rs150535483	p.Val593Met	missense variant	-	NC_000004.12:g.5793608G>A	ESP,ExAC,TOPMed,gnomAD
rs950225821	p.Trp594Cys	missense variant	-	NC_000004.12:g.5793613G>T	gnomAD
rs1486916945	p.Trp594Ter	stop gained	-	NC_000004.12:g.5793612G>A	gnomAD
rs1047264452	p.Met595Ile	missense variant	-	NC_000004.12:g.5793616G>A	gnomAD
COSM1486023	p.Met595Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5793615T>C	NCI-TCGA Cosmic
rs1460341166	p.Glu596Ala	missense variant	-	NC_000004.12:g.5793618A>C	TOPMed
rs897410017	p.Glu597Ter	stop gained	-	NC_000004.12:g.5793620G>T	TOPMed
rs887398519	p.Ala599Val	missense variant	-	NC_000004.12:g.5793627C>T	TOPMed,gnomAD
rs1193571870	p.Ala599Thr	missense variant	-	NC_000004.12:g.5793626G>A	TOPMed
rs1382732614	p.Leu600Pro	missense variant	-	NC_000004.12:g.5793630T>C	gnomAD
rs755751747	p.Ser601Pro	missense variant	-	NC_000004.12:g.5793632T>C	ExAC
rs779847840	p.Ser602Arg	missense variant	-	NC_000004.12:g.5793635A>C	ExAC,TOPMed,gnomAD
rs1313567958	p.Ser602Ile	missense variant	-	NC_000004.12:g.5793636G>T	gnomAD
RCV000261132	p.Val603Met	missense variant	-	NC_000004.12:g.5793638G>A	ClinVar
rs886042994	p.Val603Met	missense variant	-	NC_000004.12:g.5793638G>A	TOPMed,gnomAD
rs1309387390	p.Leu604Gln	missense variant	-	NC_000004.12:g.5793642T>A	TOPMed,gnomAD
rs1553889992	p.Gln605Ter	stop gained	-	NC_000004.12:g.5793644C>T	-
RCV000671523	p.Gln605Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5793644C>T	ClinVar
rs779056864	p.His607Gln	missense variant	-	NC_000004.12:g.5793652C>G	ExAC,TOPMed,gnomAD
RCV000322242	p.His607Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5793652C>G	ClinVar
RCV000376625	p.His607Gln	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5793652C>G	ClinVar
RCV000174617	p.Arg609Gln	missense variant	-	NC_000004.12:g.5793657G>A	ClinVar
rs748220728	p.Arg609Trp	missense variant	-	NC_000004.12:g.5793656C>T	ExAC,TOPMed,gnomAD
rs41269557	p.Arg609Gln	missense variant	-	NC_000004.12:g.5793657G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1415619792	p.Asp611Glu	missense variant	-	NC_000004.12:g.5793664C>G	TOPMed
rs773199764	p.His612Pro	missense variant	-	NC_000004.12:g.5793666A>C	ExAC,gnomAD
rs773199764	p.His612Arg	missense variant	-	NC_000004.12:g.5793666A>G	ExAC,gnomAD
rs1419257094	p.Glu613Asp	missense variant	-	NC_000004.12:g.5793670G>C	TOPMed,gnomAD
rs1020877502	p.Glu613Lys	missense variant	-	NC_000004.12:g.5793668G>A	TOPMed,gnomAD
rs1180841558	p.Ile616Val	missense variant	-	NC_000004.12:g.5793677A>G	gnomAD
rs747207963	p.Arg617Cys	missense variant	-	NC_000004.12:g.5793680C>T	ExAC,TOPMed,gnomAD
rs747207963	p.Arg617Ser	missense variant	-	NC_000004.12:g.5793680C>A	ExAC,TOPMed,gnomAD
rs771110251	p.Arg617His	missense variant	-	NC_000004.12:g.5793681G>A	ExAC,TOPMed,gnomAD
rs777024713	p.Gly618Ser	missense variant	-	NC_000004.12:g.5793683G>A	ExAC,TOPMed,gnomAD
rs759962630	p.Gly618Asp	missense variant	-	NC_000004.12:g.5793684G>A	ExAC,TOPMed,gnomAD
RCV000281932	p.Gly618Ser	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5793683G>A	ClinVar
RCV000373289	p.Gly618Ser	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5793683G>A	ClinVar
RCV000174618	p.Val619Ile	missense variant	-	NC_000004.12:g.5793686G>A	ClinVar
rs111293777	p.Val619Ile	missense variant	-	NC_000004.12:g.5793686G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1397510232	p.Leu620Phe	missense variant	-	NC_000004.12:g.5793691G>T	gnomAD
rs1329006994	p.Arg622Gly	missense variant	-	NC_000004.12:g.5793695C>G	TOPMed,gnomAD
rs767013073	p.Arg622Gln	missense variant	-	NC_000004.12:g.5793696G>A	ExAC,TOPMed,gnomAD
rs1329006994	p.Arg622Ter	stop gained	-	NC_000004.12:g.5793695C>T	TOPMed,gnomAD
rs1373632260	p.Leu623Pro	missense variant	-	NC_000004.12:g.5793699T>C	gnomAD
RCV000668661	p.Leu623Pro	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5793699T>C	ClinVar
rs574626879	p.Gly625Ser	missense variant	-	NC_000004.12:g.5793704G>A	1000Genomes,TOPMed,gnomAD
rs1207445139	p.Gly625Asp	missense variant	-	NC_000004.12:g.5793705G>A	gnomAD
rs755767633	p.Leu626Phe	missense variant	-	NC_000004.12:g.5793707C>T	ExAC,gnomAD
rs1194874013	p.Glu628Asp	missense variant	-	NC_000004.12:g.5793715A>T	gnomAD
rs760166925	p.Glu629Asp	missense variant	-	NC_000004.12:g.5797022G>T	ExAC,gnomAD
rs374566317	p.Thr631Pro	missense variant	-	NC_000004.12:g.5797026A>C	ESP,ExAC,gnomAD
rs139481521	p.Thr631Met	missense variant	-	NC_000004.12:g.5797027C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000343430	p.Thr631Met	missense variant	-	NC_000004.12:g.5797027C>T	ClinVar
rs368940435	p.Arg632Trp	missense variant	-	NC_000004.12:g.5797029C>T	ESP,ExAC,TOPMed,gnomAD
rs535632933	p.Arg632Gln	missense variant	-	NC_000004.12:g.5797030G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1419748236	p.Cys633Tyr	missense variant	-	NC_000004.12:g.5797033G>A	gnomAD
rs1275700686	p.Val634Phe	missense variant	-	NC_000004.12:g.5797035G>T	TOPMed,gnomAD
rs757227773	p.Gln636Pro	missense variant	-	NC_000004.12:g.5797042A>C	ExAC,TOPMed,gnomAD
rs757227773	p.Gln636Arg	missense variant	-	NC_000004.12:g.5797042A>G	ExAC,TOPMed,gnomAD
rs781254333	p.Gly637Glu	missense variant	-	NC_000004.12:g.5797045G>A	ExAC,gnomAD
rs1483614570	p.His638Arg	missense variant	-	NC_000004.12:g.5797048A>G	TOPMed
rs770025753	p.Asp639Val	missense variant	-	NC_000004.12:g.5797051A>T	ExAC,gnomAD
rs780372693	p.Leu640Val	missense variant	-	NC_000004.12:g.5797053C>G	ExAC,TOPMed,gnomAD
rs1191617444	p.Leu642Phe	missense variant	-	NC_000004.12:g.5797061G>C	gnomAD
rs749653724	p.Arg643Cys	missense variant	-	NC_000004.12:g.5797062C>T	ExAC,TOPMed,gnomAD
rs144906677	p.Arg643Leu	missense variant	-	NC_000004.12:g.5797063G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144906677	p.Arg643His	missense variant	-	NC_000004.12:g.5797063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144906677	p.Arg643Pro	missense variant	-	NC_000004.12:g.5797063G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000174813	p.Arg643His	missense variant	-	NC_000004.12:g.5797063G>A	ClinVar
rs774775333	p.Ser644Leu	missense variant	-	NC_000004.12:g.5797066C>T	ExAC,gnomAD
rs1312460621	p.Ala645Gly	missense variant	-	NC_000004.12:g.5797069C>G	TOPMed
rs762391134	p.Leu646Val	missense variant	-	NC_000004.12:g.5797071C>G	ExAC,gnomAD
rs35401386	p.Arg647Pro	missense variant	-	NC_000004.12:g.5797075G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000597585	p.Arg647Gln	missense variant	-	NC_000004.12:g.5797075G>A	ClinVar
rs35401386	p.Arg647Leu	missense variant	-	NC_000004.12:g.5797075G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35401386	p.Arg647Gln	missense variant	-	NC_000004.12:g.5797075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770276380	p.Arg647Trp	missense variant	-	NC_000004.12:g.5797074C>T	ExAC,TOPMed,gnomAD
rs1418345759	p.Arg648Gly	missense variant	-	NC_000004.12:g.5797077A>G	gnomAD
rs1295814362	p.Leu651Phe	missense variant	-	NC_000004.12:g.5797086C>T	gnomAD
rs765024763	p.Arg652His	missense variant	-	NC_000004.12:g.5797090G>A	ExAC,TOPMed,gnomAD
rs759245991	p.Arg652Cys	missense variant	-	NC_000004.12:g.5797089C>T	ExAC,TOPMed,gnomAD
rs762716384	p.Gly653Ser	missense variant	-	NC_000004.12:g.5797092G>A	ExAC,TOPMed,gnomAD
rs149344570	p.Ala655Thr	missense variant	-	NC_000004.12:g.5797098G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000757227	p.Ala655Thr	missense variant	-	NC_000004.12:g.5797098G>A	ClinVar
rs909084300	p.Ala657Pro	missense variant	-	NC_000004.12:g.5797104G>C	TOPMed,gnomAD
rs909084300	p.Ala657Thr	missense variant	-	NC_000004.12:g.5797104G>A	TOPMed,gnomAD
rs781199126	p.Thr658Asn	missense variant	-	NC_000004.12:g.5797108C>A	ExAC,gnomAD
rs550100215	p.Thr660Lys	missense variant	-	NC_000004.12:g.5797114C>A	ExAC,TOPMed,gnomAD
rs550100215	p.Thr660Met	missense variant	-	NC_000004.12:g.5797114C>T	ExAC,TOPMed,gnomAD
rs201123831	p.Gln661His	missense variant	-	NC_000004.12:g.5797118G>T	1000Genomes,ExAC,gnomAD
rs1276607070	p.Gln661Glu	missense variant	-	NC_000004.12:g.5797116C>G	TOPMed
rs372089496	p.Arg663Pro	missense variant	-	NC_000004.12:g.5797123G>C	ESP,ExAC,TOPMed,gnomAD
rs372089496	p.Arg663Gln	missense variant	-	NC_000004.12:g.5797123G>A	ESP,ExAC,TOPMed,gnomAD
rs867240492	p.Arg663Trp	missense variant	-	NC_000004.12:g.5797122C>T	TOPMed,gnomAD
rs375340438	p.Ser665Leu	missense variant	-	NC_000004.12:g.5797129C>T	ESP,ExAC,TOPMed,gnomAD
rs776252465	p.Lys667Gln	missense variant	-	NC_000004.12:g.5797134A>C	ExAC,TOPMed,gnomAD
rs759187395	p.Lys668Asn	missense variant	-	NC_000004.12:g.5797139G>T	ExAC,gnomAD
rs759187395	p.Lys668Asn	missense variant	-	NC_000004.12:g.5797139G>C	ExAC,gnomAD
rs1404936868	p.Leu670His	missense variant	-	NC_000004.12:g.5797144T>A	TOPMed
rs1279993290	p.Leu670Val	missense variant	-	NC_000004.12:g.5797143C>G	gnomAD
rs774949132	p.Gln672Ter	stop gained	-	NC_000004.12:g.5797149C>T	ExAC,TOPMed,gnomAD
rs762671207	p.Gln672Arg	missense variant	-	NC_000004.12:g.5797150A>G	ExAC,gnomAD
rs143728868	p.Arg675Gln	missense variant	-	NC_000004.12:g.5797159G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs372267517	p.Arg675Trp	missense variant	-	NC_000004.12:g.5797158C>T	ESP,ExAC,TOPMed,gnomAD
rs367968708	p.Glu676Lys	missense variant	-	NC_000004.12:g.5797161G>A	ExAC,TOPMed,gnomAD
rs750496555	p.Arg678Leu	missense variant	-	NC_000004.12:g.5797168G>T	ExAC,TOPMed,gnomAD
rs750496555	p.Arg678Pro	missense variant	-	NC_000004.12:g.5797168G>C	ExAC,TOPMed,gnomAD
rs767480367	p.Arg678Cys	missense variant	-	NC_000004.12:g.5797167C>T	ExAC,gnomAD
rs750496555	p.Arg678His	missense variant	-	NC_000004.12:g.5797168G>A	ExAC,TOPMed,gnomAD
rs201877358	p.Glu681Gln	missense variant	-	NC_000004.12:g.5797176G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1179899572	p.Glu681Gly	missense variant	-	NC_000004.12:g.5797177A>G	gnomAD
rs201877358	p.Glu681Lys	missense variant	-	NC_000004.12:g.5797176G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM4125342	p.Glu681Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5797178G>T	NCI-TCGA Cosmic
rs763683606	p.Gln682Glu	missense variant	-	NC_000004.12:g.5797179C>G	ExAC,gnomAD
rs573160908	p.Gly683Glu	missense variant	-	NC_000004.12:g.5797183G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778484721	p.Ser685Phe	missense variant	-	NC_000004.12:g.5797189C>T	ExAC,TOPMed,gnomAD
rs769365090	p.Cys687Phe	missense variant	-	NC_000004.12:g.5797195G>T	ExAC,gnomAD
rs769365090	p.Cys687Tyr	missense variant	-	NC_000004.12:g.5797195G>A	ExAC,gnomAD
rs775097507	p.Leu688Met	missense variant	-	NC_000004.12:g.5797197C>A	ExAC,TOPMed,gnomAD
rs748843712	p.Asp689Gly	missense variant	-	NC_000004.12:g.5797201A>G	ExAC,gnomAD
rs1273222229	p.Glu690Gly	missense variant	-	NC_000004.12:g.5797204A>G	gnomAD
rs773983356	p.Glu690Lys	missense variant	-	NC_000004.12:g.5797203G>A	ExAC,TOPMed,gnomAD
rs1273222229	p.Glu690Ala	missense variant	-	NC_000004.12:g.5797204A>C	gnomAD
rs1186502799	p.His691Tyr	missense variant	-	NC_000004.12:g.5797206C>T	TOPMed,gnomAD
rs1186502799	p.His691Asn	missense variant	-	NC_000004.12:g.5797206C>A	TOPMed,gnomAD
rs1341542072	p.Gln692Arg	missense variant	-	NC_000004.12:g.5797210A>G	gnomAD
rs1344124533	p.Trp693Cys	missense variant	-	NC_000004.12:g.5797214G>C	TOPMed
rs1215431129	p.Trp693Arg	missense variant	-	NC_000004.12:g.5797212T>A	gnomAD
rs767425169	p.Arg697Ser	missense variant	-	NC_000004.12:g.5797226G>T	ExAC,gnomAD
rs571809727	p.Ala701Val	missense variant	-	NC_000004.12:g.5798590C>T	ExAC,TOPMed,gnomAD
RCV000305465	p.Ala701Val	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798590C>T	ClinVar
rs1418368750	p.Ala701Ser	missense variant	-	NC_000004.12:g.5798589G>T	gnomAD
rs571809727	p.Ala701Glu	missense variant	-	NC_000004.12:g.5798590C>A	ExAC,TOPMed,gnomAD
RCV000264413	p.Ala701Val	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798590C>T	ClinVar
RCV000260777	p.Arg702Cys	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798592C>T	ClinVar
RCV000360217	p.Arg702Cys	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798592C>T	ClinVar
rs200899957	p.Arg702His	missense variant	-	NC_000004.12:g.5798593G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs545087909	p.Arg702Ser	missense variant	-	NC_000004.12:g.5798592C>A	TOPMed,gnomAD
rs200899957	p.Arg702Leu	missense variant	-	NC_000004.12:g.5798593G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs545087909	p.Arg702Gly	missense variant	-	NC_000004.12:g.5798592C>G	TOPMed,gnomAD
rs545087909	p.Arg702Cys	missense variant	-	NC_000004.12:g.5798592C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val703Glu	missense variant	-	NC_000004.12:g.5798596T>A	NCI-TCGA
rs759723939	p.Val703Met	missense variant	-	NC_000004.12:g.5798595G>A	ExAC,TOPMed,gnomAD
rs765248751	p.Glu705Gly	missense variant	-	NC_000004.12:g.5798602A>G	ExAC,TOPMed,gnomAD
rs752901623	p.Glu706Ala	missense variant	-	NC_000004.12:g.5798605A>C	ExAC,gnomAD
rs758724820	p.Ser708Asn	missense variant	-	NC_000004.12:g.5798611G>A	ExAC,gnomAD
rs752020764	p.Arg709Pro	missense variant	-	NC_000004.12:g.5798614G>C	ExAC,TOPMed,gnomAD
rs764505769	p.Arg709Trp	missense variant	-	NC_000004.12:g.5798613C>T	ExAC,TOPMed
rs752020764	p.Arg709Gln	missense variant	-	NC_000004.12:g.5798614G>A	ExAC,TOPMed,gnomAD
rs1216511929	p.Leu710Pro	missense variant	-	NC_000004.12:g.5798617T>C	gnomAD
rs373726507	p.Glu711Gly	missense variant	-	NC_000004.12:g.5798620A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1430134537	p.Glu711Lys	missense variant	-	NC_000004.12:g.5798619G>A	gnomAD
rs1487009045	p.Glu712Asp	missense variant	-	NC_000004.12:g.5798624G>C	gnomAD
rs781755628	p.Glu713Gln	missense variant	-	NC_000004.12:g.5798625G>C	ExAC,gnomAD
rs753274263	p.Ala714Gly	missense variant	-	NC_000004.12:g.5798629C>G	ExAC,gnomAD
rs971647538	p.Gln715Lys	missense variant	-	NC_000004.12:g.5798631C>A	TOPMed,gnomAD
rs971647538	p.Gln715Glu	missense variant	-	NC_000004.12:g.5798631C>G	TOPMed,gnomAD
rs1470506115	p.Gln716His	missense variant	-	NC_000004.12:g.5798636G>T	gnomAD
rs754450020	p.Thr717Ile	missense variant	-	NC_000004.12:g.5798638C>T	ExAC,gnomAD
rs778287269	p.Arg718Trp	missense variant	-	NC_000004.12:g.5798640C>T	ExAC,TOPMed,gnomAD
rs747756961	p.Arg718Gln	missense variant	-	NC_000004.12:g.5798641G>A	ExAC,TOPMed,gnomAD
rs375793050	p.Gln720Arg	missense variant	-	NC_000004.12:g.5798647A>G	ESP,TOPMed,gnomAD
rs1553891936	p.Gln722Ter	stop gained	-	NC_000004.12:g.5798652C>T	-
RCV000522119	p.Gln722Ter	nonsense	-	NC_000004.12:g.5798652C>T	ClinVar
RCV000674284	p.Gln722Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5798652C>T	ClinVar
rs771731311	p.Gln723His	missense variant	-	NC_000004.12:g.5798657G>T	ExAC,gnomAD
rs537663112	p.Arg724Gln	missense variant	-	NC_000004.12:g.5798659G>A	1000Genomes,ExAC,gnomAD
rs73077515	p.Arg724Trp	missense variant	-	NC_000004.12:g.5798658C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1227431641	p.Leu725Phe	missense variant	-	NC_000004.12:g.5798661C>T	TOPMed
rs776577907	p.Leu726Gln	missense variant	-	NC_000004.12:g.5798665T>A	ExAC,gnomAD
RCV000411885	p.Leu726Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5798664dup	ClinVar
rs769878309	p.Glu728Lys	missense variant	-	NC_000004.12:g.5798670G>A	ExAC,TOPMed,gnomAD
rs775736804	p.Gln730Arg	missense variant	-	NC_000004.12:g.5798677A>G	ExAC,gnomAD
rs763247420	p.Val732Met	missense variant	-	NC_000004.12:g.5798682G>A	ExAC,gnomAD
rs1482763088	p.Val732Gly	missense variant	-	NC_000004.12:g.5798683T>G	gnomAD
rs764450324	p.Gly733Glu	missense variant	-	NC_000004.12:g.5798686G>A	ExAC,gnomAD
rs762296832	p.Leu735Pro	missense variant	-	NC_000004.12:g.5798692T>C	ExAC,gnomAD
rs1177737631	p.Gln737Pro	missense variant	-	NC_000004.12:g.5798698A>C	gnomAD
rs767786117	p.His739Tyr	missense variant	-	NC_000004.12:g.5798703C>T	ExAC,gnomAD
NCI-TCGA novel	p.Met740Val	missense variant	-	NC_000004.12:g.5798706A>G	NCI-TCGA
rs1017124177	p.Glu741Lys	missense variant	-	NC_000004.12:g.5798709G>A	TOPMed
COSM734031	p.Glu741Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5798710A>C	NCI-TCGA Cosmic
rs1376630547	p.Ala743Val	missense variant	-	NC_000004.12:g.5798716C>T	TOPMed
rs574651183	p.Ala743Thr	missense variant	-	NC_000004.12:g.5798715G>A	1000Genomes,ExAC,gnomAD
rs756605293	p.Ile744Phe	missense variant	-	NC_000004.12:g.5798718A>T	ExAC,gnomAD
rs756605293	p.Ile744Val	missense variant	-	NC_000004.12:g.5798718A>G	ExAC,gnomAD
rs778342193	p.Ile744Thr	missense variant	-	NC_000004.12:g.5798719T>C	ExAC,TOPMed,gnomAD
rs752249506	p.Gly745Trp	missense variant	-	NC_000004.12:g.5798721G>T	ExAC,gnomAD
rs752249506	p.Gly745Arg	missense variant	-	NC_000004.12:g.5798721G>A	ExAC,gnomAD
rs1446547358	p.Gln746Ter	stop gained	-	NC_000004.12:g.5798724C>T	TOPMed,gnomAD
RCV000637036	p.Gln746Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5798724C>T	ClinVar
rs151091776	p.Ala747Val	missense variant	-	NC_000004.12:g.5798728C>T	ESP,ExAC,TOPMed,gnomAD
rs1301432035	p.Leu749Val	missense variant	-	NC_000004.12:g.5798733C>G	TOPMed,gnomAD
rs1311084523	p.Val750Ala	missense variant	-	NC_000004.12:g.5798737T>C	gnomAD
rs1411776741	p.Val750Leu	missense variant	-	NC_000004.12:g.5798736G>T	TOPMed
rs1230662303	p.His751Arg	missense variant	-	NC_000004.12:g.5798740A>G	TOPMed,gnomAD
rs1252737744	p.Ala752Thr	missense variant	-	NC_000004.12:g.5798742G>A	gnomAD
rs770696062	p.Arg753Gly	missense variant	-	NC_000004.12:g.5798745C>G	ExAC,TOPMed,gnomAD
rs146739019	p.Arg753Gln	missense variant	-	NC_000004.12:g.5798746G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146739019	p.Arg753Leu	missense variant	-	NC_000004.12:g.5798746G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770696062	p.Arg753Trp	missense variant	-	NC_000004.12:g.5798745C>T	ExAC,TOPMed,gnomAD
rs1191689703	p.Ala756Ser	missense variant	-	NC_000004.12:g.5798754G>T	gnomAD
rs1266821384	p.Ala756Asp	missense variant	-	NC_000004.12:g.5798755C>A	gnomAD
rs199611644	p.Lys758Asn	missense variant	-	NC_000004.12:g.5798762G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000262359	p.Ser759Asn	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798764G>A	ClinVar
rs201776972	p.Ser759Asn	missense variant	-	NC_000004.12:g.5798764G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser759Cys	missense variant	-	NC_000004.12:g.5798763A>T	NCI-TCGA
rs201776972	p.Ser759Thr	missense variant	-	NC_000004.12:g.5798764G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000331568	p.Ser759Asn	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798764G>A	ClinVar
RCV000296500	p.Arg760Trp	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798766C>T	ClinVar
RCV000332723	p.Arg760Gln	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798767G>A	ClinVar
RCV000386103	p.Arg760Trp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798766C>T	ClinVar
rs200479973	p.Arg760Trp	missense variant	-	NC_000004.12:g.5798766C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs2279252	p.Arg760Gln	missense variant	-	NC_000004.12:g.5798767G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2279252	p.Arg760Gln	missense variant	-	NC_000004.12:g.5798767G>A	UniProt,dbSNP
VAR_009949	p.Arg760Gln	missense variant	-	NC_000004.12:g.5798767G>A	UniProt
RCV000382625	p.Arg760Gln	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798767G>A	ClinVar
rs1288272995	p.Asp763Gly	missense variant	-	NC_000004.12:g.5798776A>G	TOPMed
rs1397126408	p.Arg764Ser	missense variant	-	NC_000004.12:g.5798780G>C	gnomAD
rs1408380648	p.Asp765Gly	missense variant	-	NC_000004.12:g.5798782A>G	TOPMed
rs1293427559	p.Lys768Asn	missense variant	-	NC_000004.12:g.5798792G>T	gnomAD
rs1295761643	p.Thr770Ala	missense variant	-	NC_000004.12:g.5801953A>G	gnomAD
rs373312910	p.Leu771Pro	missense variant	-	NC_000004.12:g.5801957T>C	ESP,ExAC,TOPMed,gnomAD
rs763546632	p.Leu771Met	missense variant	-	NC_000004.12:g.5801956C>A	ExAC,TOPMed,gnomAD
rs1225432816	p.Met772Ile	missense variant	-	NC_000004.12:g.5801961G>A	gnomAD
rs1264370520	p.Met772Val	missense variant	-	NC_000004.12:g.5801959A>G	TOPMed
rs767144263	p.Ala774Val	missense variant	-	NC_000004.12:g.5801966C>T	ExAC,TOPMed,gnomAD
rs780000441	p.Glu777Lys	missense variant	-	NC_000004.12:g.5801974G>A	ExAC,gnomAD
rs376396220	p.Val779Ile	missense variant	-	NC_000004.12:g.5801980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376396220	p.Val779Phe	missense variant	-	NC_000004.12:g.5801980G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773252806	p.Tyr780Cys	missense variant	-	NC_000004.12:g.5801984A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr780Ter	stop gained	-	NC_000004.12:g.5801985C>A	NCI-TCGA
rs773252806	p.Tyr780Ser	missense variant	-	NC_000004.12:g.5801984A>C	ExAC,TOPMed,gnomAD
rs772327206	p.Tyr780His	missense variant	-	NC_000004.12:g.5801983T>C	ExAC,gnomAD
RCV000339884	p.Val781Met	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5801986G>A	ClinVar
rs370514515	p.Val781Met	missense variant	-	NC_000004.12:g.5801986G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000398397	p.Val781Met	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5801986G>A	ClinVar
rs374146790	p.Thr782Ile	missense variant	-	NC_000004.12:g.5801990C>T	ESP,ExAC,TOPMed,gnomAD
rs760015762	p.Ser783Thr	missense variant	-	NC_000004.12:g.5801993G>C	ExAC,TOPMed,gnomAD
rs760015762	p.Ser783Asn	missense variant	-	NC_000004.12:g.5801993G>A	ExAC,TOPMed,gnomAD
rs149537641	p.Ala784Thr	missense variant	-	NC_000004.12:g.5801995G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000355126	p.Ala784Thr	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5801995G>A	ClinVar
RCV000304958	p.Ala784Thr	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5801995G>A	ClinVar
rs73795088	p.Arg788His	missense variant	-	NC_000004.12:g.5802008G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761286195	p.Arg788Cys	missense variant	-	NC_000004.12:g.5802007C>T	ExAC,gnomAD
rs73795088	p.Arg788Leu	missense variant	-	NC_000004.12:g.5802008G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000555430	p.Arg788His	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5802008G>A	ClinVar
rs749975914	p.Val790Met	missense variant	-	NC_000004.12:g.5802013G>A	ExAC,TOPMed,gnomAD
rs753732049	p.Ala792Glu	missense variant	-	NC_000004.12:g.5802020C>A	ExAC,TOPMed,gnomAD
rs753732049	p.Ala792Val	missense variant	-	NC_000004.12:g.5802020C>T	ExAC,TOPMed,gnomAD
rs202236029	p.Ile797Met	missense variant	-	NC_000004.12:g.5802036C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1309436240	p.Ile797Val	missense variant	-	NC_000004.12:g.5802034A>G	TOPMed,gnomAD
rs142738089	p.Gly798Arg	missense variant	-	NC_000004.12:g.5802037G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142738089	p.Gly798Arg	missense variant	-	NC_000004.12:g.5802037G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1196026308	p.Met801Ile	missense variant	-	NC_000004.12:g.5802048G>A	gnomAD
rs1473199751	p.Met801Thr	missense variant	-	NC_000004.12:g.5802047T>C	TOPMed,gnomAD
rs376241761	p.Met801Val	missense variant	-	NC_000004.12:g.5802046A>G	ESP,ExAC,TOPMed,gnomAD
rs1473199751	p.Met801Arg	missense variant	-	NC_000004.12:g.5802047T>G	TOPMed,gnomAD
rs1478086711	p.Asp803Asn	missense variant	-	NC_000004.12:g.5802052G>A	gnomAD
rs781506461	p.Glu805Gln	missense variant	-	NC_000004.12:g.5802058G>C	ExAC,gnomAD
RCV000269534	p.Glu805Asp	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5802060G>T	ClinVar
rs781506461	p.Glu805Lys	missense variant	-	NC_000004.12:g.5802058G>A	ExAC,gnomAD
rs886059506	p.Glu805Asp	missense variant	-	NC_000004.12:g.5802060G>T	-
RCV000327046	p.Glu805Asp	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5802060G>T	ClinVar
rs1299666972	p.Glu806Asp	missense variant	-	NC_000004.12:g.5802063G>T	TOPMed
rs746300042	p.Arg807Gly	missense variant	-	NC_000004.12:g.5802064A>G	ExAC,gnomAD
COSM3826037	p.Arg807Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5802065G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys808Asn	missense variant	-	NC_000004.12:g.5802069A>C	NCI-TCGA
rs200839198	p.Leu809Arg	missense variant	-	NC_000004.12:g.5802071T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys813Asn	missense variant	-	NC_000004.12:g.5802084G>T	NCI-TCGA
rs771441586	p.Lys813Asn	missense variant	-	NC_000004.12:g.5802084G>C	ExAC,gnomAD
rs772800724	p.Leu815Val	missense variant	-	NC_000004.12:g.5802088C>G	ExAC,gnomAD
rs1342618312	p.Gln816His	missense variant	-	NC_000004.12:g.5802093G>T	gnomAD
rs558599051	p.Gln816Arg	missense variant	-	NC_000004.12:g.5802092A>G	1000Genomes,ExAC,gnomAD
rs374752679	p.Gln816Ter	stop gained	-	NC_000004.12:g.5802091C>T	ESP,TOPMed,gnomAD
rs766172347	p.Gly817Cys	missense variant	-	NC_000004.12:g.5802094G>T	ExAC,TOPMed,gnomAD
rs775144960	p.Glu818Asp	missense variant	-	NC_000004.12:g.5804734G>C	ExAC,gnomAD
RCV000005673	p.Met820Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5804737del	ClinVar
rs763891488	p.Asn822Asp	missense variant	-	NC_000004.12:g.5804744A>G	ExAC,TOPMed,gnomAD
rs1054189401	p.Asn822Ser	missense variant	-	NC_000004.12:g.5804745A>G	TOPMed
rs763891488	p.Asn822His	missense variant	-	NC_000004.12:g.5804744A>C	ExAC,TOPMed,gnomAD
rs761769488	p.Tyr823His	missense variant	-	NC_000004.12:g.5804747T>C	ExAC,TOPMed,gnomAD
rs761769488	p.Tyr823Asp	missense variant	-	NC_000004.12:g.5804747T>G	ExAC,TOPMed,gnomAD
rs994935575	p.Lys824Gln	missense variant	-	NC_000004.12:g.5804750A>C	gnomAD
rs767535365	p.Leu825Met	missense variant	-	NC_000004.12:g.5804753C>A	ExAC,gnomAD
rs756255427	p.Arg826Gln	missense variant	-	NC_000004.12:g.5804757G>A	ExAC,TOPMed,gnomAD
rs369800853	p.Arg826Trp	missense variant	-	NC_000004.12:g.5804756C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys828SerPheSerTerUnkUnkUnk	frameshift	-	NC_000004.12:g.5804759A>-	NCI-TCGA
rs766686254	p.Leu831Arg	missense variant	-	NC_000004.12:g.5804772T>G	ExAC,gnomAD
rs754135892	p.Asn833Asp	missense variant	-	NC_000004.12:g.5804777A>G	ExAC,gnomAD
rs755309296	p.Pro834Leu	missense variant	-	NC_000004.12:g.5804781C>T	ExAC,gnomAD
rs1395596111	p.Pro834Ser	missense variant	-	NC_000004.12:g.5804780C>T	TOPMed
RCV000722826	p.Ser835Ter	nonsense	-	NC_000004.12:g.5804784C>A	ClinVar
rs1483123374	p.Ser835Thr	missense variant	-	NC_000004.12:g.5804783T>A	gnomAD
COSM1430370	p.Ser835Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5804784C>T	NCI-TCGA Cosmic
rs748620929	p.Ser836Ter	stop gained	-	NC_000004.12:g.5804787C>A	ExAC,TOPMed,gnomAD
rs748620929	p.Ser836Leu	missense variant	-	NC_000004.12:g.5804787C>T	ExAC,TOPMed,gnomAD
rs1160139769	p.Gly837Ser	missense variant	-	NC_000004.12:g.5804789G>A	TOPMed
rs1474071640	p.Gly837Asp	missense variant	-	NC_000004.12:g.5804790G>A	gnomAD
rs1002792571	p.Arg839Gly	missense variant	-	NC_000004.12:g.5804795A>G	TOPMed,gnomAD
rs769319527	p.Arg839Ser	missense variant	-	NC_000004.12:g.5804797G>T	ExAC,gnomAD
rs745451709	p.Arg839Lys	missense variant	-	NC_000004.12:g.5804796G>A	ExAC,TOPMed,gnomAD
rs745451709	p.Arg839Met	missense variant	-	NC_000004.12:g.5804796G>T	ExAC,TOPMed,gnomAD
rs143464806	p.Thr840Met	missense variant	-	NC_000004.12:g.5804799C>T	ESP,ExAC,TOPMed,gnomAD
rs1378303023	p.Ala841Val	missense variant	-	NC_000004.12:g.5804802C>T	gnomAD
rs1446692986	p.Gly842Ser	missense variant	-	NC_000004.12:g.5804804G>A	gnomAD
rs768398433	p.Gly842Asp	missense variant	-	NC_000004.12:g.5804805G>A	ExAC,TOPMed,gnomAD
rs774153178	p.Gly843Ser	missense variant	-	NC_000004.12:g.5804807G>A	ExAC,TOPMed,gnomAD
rs541895869	p.Ala844Thr	missense variant	-	NC_000004.12:g.5804810G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773156946	p.His845Gln	missense variant	-	NC_000004.12:g.5804815T>G	ExAC,TOPMed,gnomAD
rs1221419873	p.Gln849Arg	missense variant	-	NC_000004.12:g.5804826A>G	TOPMed
rs561852174	p.Gln849Glu	missense variant	-	NC_000004.12:g.5804825C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs150509782	p.Ala850Val	missense variant	-	NC_000004.12:g.5804829C>T	ESP,ExAC,TOPMed,gnomAD
rs951188954	p.His852Leu	missense variant	-	NC_000004.12:g.5804835A>T	TOPMed,gnomAD
rs574669392	p.His852Asp	missense variant	-	NC_000004.12:g.5804834C>G	ExAC,TOPMed,gnomAD
rs372917743	p.Arg854Gly	missense variant	-	NC_000004.12:g.5804840A>G	ESP,ExAC,TOPMed,gnomAD
rs150065352	p.Leu856Gln	missense variant	-	NC_000004.12:g.5808206T>A	ESP,ExAC,TOPMed,gnomAD
COSM1056392	p.Leu856Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5808205C>A	NCI-TCGA Cosmic
rs1264510675	p.Gln859Arg	missense variant	-	NC_000004.12:g.5808215A>G	TOPMed
rs1264987350	p.Lys860Asn	missense variant	-	NC_000004.12:g.5808219G>C	TOPMed,gnomAD
rs1230001139	p.Phe862Val	missense variant	-	NC_000004.12:g.5808223T>G	TOPMed
rs1327449417	p.Phe862Leu	missense variant	-	NC_000004.12:g.5808225C>A	TOPMed
rs1333749968	p.Leu863Val	missense variant	-	NC_000004.12:g.5808226C>G	TOPMed
rs770010759	p.Ala864Gly	missense variant	-	NC_000004.12:g.5808230C>G	ExAC,TOPMed,gnomAD
rs770010759	p.Ala864Val	missense variant	-	NC_000004.12:g.5808230C>T	ExAC,TOPMed,gnomAD
rs775791873	p.Phe866Leu	missense variant	-	NC_000004.12:g.5808235T>C	ExAC,gnomAD
rs763301589	p.Val868Met	missense variant	-	NC_000004.12:g.5808241G>A	ExAC,gnomAD
rs764467481	p.His869Tyr	missense variant	-	NC_000004.12:g.5808244C>T	ExAC,gnomAD
rs1310991540	p.Met872Ile	missense variant	-	NC_000004.12:g.5808255G>A	gnomAD
rs767972554	p.Arg873His	missense variant	-	NC_000004.12:g.5808257G>A	ExAC,TOPMed,gnomAD
rs762346358	p.Arg873Cys	missense variant	-	NC_000004.12:g.5808256C>T	ExAC,gnomAD
rs767972554	p.Arg873Leu	missense variant	-	NC_000004.12:g.5808257G>T	ExAC,TOPMed,gnomAD
rs200403160	p.His875Leu	missense variant	-	NC_000004.12:g.5808263A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1399011348	p.His875Tyr	missense variant	-	NC_000004.12:g.5808262C>T	gnomAD
rs752304551	p.Ala876Thr	missense variant	-	NC_000004.12:g.5808265G>A	ExAC,TOPMed,gnomAD
rs758038673	p.Gln877Glu	missense variant	-	NC_000004.12:g.5808268C>G	ExAC,TOPMed,gnomAD
rs758038673	p.Gln877Lys	missense variant	-	NC_000004.12:g.5808268C>A	ExAC,TOPMed,gnomAD
rs757206813	p.Gln878His	missense variant	-	NC_000004.12:g.5808273G>T	ExAC,TOPMed
rs121908424	p.Gln879Ter	stop gained	-	NC_000004.12:g.5808274C>T	ESP,ExAC,TOPMed,gnomAD
RCV000005667	p.Gln879Ter	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5808274C>T	ClinVar
rs745807857	p.Gln880Glu	missense variant	-	NC_000004.12:g.5808277C>G	ExAC,gnomAD
rs574700297	p.Ala881Ser	missense variant	-	NC_000004.12:g.5808280G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1478418087	p.Ala881Val	missense variant	-	NC_000004.12:g.5808281C>T	TOPMed,gnomAD
rs1172095316	p.Val883Asp	missense variant	-	NC_000004.12:g.5808287T>A	gnomAD
rs749497030	p.Met884Thr	missense variant	-	NC_000004.12:g.5808290T>C	ExAC,gnomAD
rs540660500	p.Asp885Gly	missense variant	-	NC_000004.12:g.5808293A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1241844907	p.Asp885Asn	missense variant	-	NC_000004.12:g.5808292G>A	gnomAD
rs187506181	p.Leu886Val	missense variant	-	NC_000004.12:g.5808295C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767937586	p.Leu887Val	missense variant	-	NC_000004.12:g.5808298C>G	ExAC,TOPMed,gnomAD
rs1161036004	p.Glu888Asp	missense variant	-	NC_000004.12:g.5808303A>T	gnomAD
COSM4895721	p.Ala889Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5808304G>A	NCI-TCGA Cosmic
RCV000666044	p.Gln890Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5808307del	ClinVar
rs1156454852	p.Gln890Lys	missense variant	-	NC_000004.12:g.5808307C>A	gnomAD
rs1360497935	p.Leu891Val	missense variant	-	NC_000004.12:g.5808310C>G	TOPMed,gnomAD
rs773640948	p.Glu892Lys	missense variant	-	NC_000004.12:g.5808313G>A	ExAC,gnomAD
rs948949808	p.Thr893Ile	missense variant	-	NC_000004.12:g.5808317C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln894His	missense variant	-	NC_000004.12:g.5808321G>C	NCI-TCGA
rs1352902370	p.Leu895Val	missense variant	-	NC_000004.12:g.5808322C>G	TOPMed
rs1326731095	p.Gln896Ter	stop gained	-	NC_000004.12:g.5808325C>T	TOPMed
rs369105803	p.Glu897Lys	missense variant	-	NC_000004.12:g.5809518G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gln900His	missense variant	-	NC_000004.12:g.5809529G>T	NCI-TCGA
rs1039706882	p.Gln900Glu	missense variant	-	NC_000004.12:g.5809527C>G	TOPMed
NCI-TCGA novel	p.Asn901Thr	missense variant	-	NC_000004.12:g.5809531A>C	NCI-TCGA
rs939003422	p.Asn901Ile	missense variant	-	NC_000004.12:g.5809531A>T	TOPMed,gnomAD
rs1189233313	p.Phe902Ser	missense variant	-	NC_000004.12:g.5809534T>C	TOPMed
rs143678893	p.Ile903Val	missense variant	-	NC_000004.12:g.5809536A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258006198	p.Ser904Cys	missense variant	-	NC_000004.12:g.5809540C>G	gnomAD
rs892954050	p.Glu905Lys	missense variant	-	NC_000004.12:g.5809542G>A	TOPMed,gnomAD
rs1313721194	p.Leu906Pro	missense variant	-	NC_000004.12:g.5809546T>C	TOPMed
rs372956133	p.Ala910Thr	missense variant	-	NC_000004.12:g.5809557G>A	ESP,ExAC,TOPMed,gnomAD
rs761553327	p.Ala910Val	missense variant	-	NC_000004.12:g.5809558C>T	ExAC,gnomAD
rs767400887	p.Arg911Ter	stop gained	-	NC_000004.12:g.5809560C>T	ExAC,TOPMed,gnomAD
rs930402783	p.Arg911Gln	missense variant	-	NC_000004.12:g.5809561G>A	gnomAD
rs1171049525	p.Val912Glu	missense variant	-	NC_000004.12:g.5809564T>A	TOPMed,gnomAD
rs148823298	p.Pro913Leu	missense variant	-	NC_000004.12:g.5809567C>T	-
rs140508599	p.Pro913Ser	missense variant	-	NC_000004.12:g.5809566C>T	ESP,TOPMed,gnomAD
RCV000399748	p.Leu914Phe	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5809569C>T	ClinVar
rs370825749	p.Leu914Phe	missense variant	-	NC_000004.12:g.5809569C>T	ESP,ExAC,TOPMed,gnomAD
RCV000314837	p.Leu914Phe	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5809569C>T	ClinVar
rs1350522989	p.Ala915Pro	missense variant	-	NC_000004.12:g.5809572G>C	gnomAD
rs780194870	p.Lys918Ile	missense variant	-	NC_000004.12:g.5809582A>T	ExAC,gnomAD
rs780968816	p.Lys918Ter	stop gained	-	NC_000004.12:g.5809581A>T	ExAC,TOPMed,gnomAD
rs780194870	p.Lys918Arg	missense variant	-	NC_000004.12:g.5809582A>G	ExAC,gnomAD
rs780968816	p.Lys918Glu	missense variant	-	NC_000004.12:g.5809581A>G	ExAC,TOPMed,gnomAD
RCV000269867	p.Lys918Glu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5809581A>G	ClinVar
RCV000362580	p.Lys918Glu	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5809581A>G	ClinVar
rs548820371	p.Leu920Trp	missense variant	-	NC_000004.12:g.5809588T>G	1000Genomes,ExAC,gnomAD
rs779080824	p.Ala922Val	missense variant	-	NC_000004.12:g.5809594C>T	ExAC,gnomAD
rs754946373	p.Ala922Pro	missense variant	-	NC_000004.12:g.5809593G>C	ExAC,gnomAD
rs748268896	p.Lys923Thr	missense variant	-	NC_000004.12:g.5809597A>C	ExAC,gnomAD
rs772327981	p.Arg924Cys	missense variant	-	NC_000004.12:g.5809599C>T	ExAC,TOPMed,gnomAD
rs778108920	p.Arg924His	missense variant	-	NC_000004.12:g.5809600G>A	ExAC,TOPMed,gnomAD
rs1392243130	p.Leu927Gln	missense variant	-	NC_000004.12:g.5809609T>A	TOPMed
rs561888939	p.Glu928Gly	missense variant	-	NC_000004.12:g.5810339A>G	gnomAD
rs1489027267	p.Glu928Gln	missense variant	-	NC_000004.12:g.5809611G>C	gnomAD
COSM1430372	p.Glu928Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5810340G>T	NCI-TCGA Cosmic
rs757581914	p.Leu931Pro	missense variant	-	NC_000004.12:g.5810348T>C	ExAC,gnomAD
rs781640041	p.Arg932Trp	missense variant	-	NC_000004.12:g.5810350A>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg932Met	missense variant	-	NC_000004.12:g.5810351G>T	NCI-TCGA
NCI-TCGA novel	p.Thr933Ile	missense variant	-	NC_000004.12:g.5810354C>T	NCI-TCGA
rs1335190832	p.Thr933Ser	missense variant	-	NC_000004.12:g.5810354C>G	TOPMed,gnomAD
rs200214299	p.Lys934Thr	missense variant	-	NC_000004.12:g.5810357A>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys937Thr	missense variant	-	NC_000004.12:g.5810366A>C	NCI-TCGA
rs747715305	p.Pro938Ser	missense variant	-	NC_000004.12:g.5810368C>T	ExAC,gnomAD
rs772929452	p.Pro940Leu	missense variant	-	NC_000004.12:g.5810375C>T	ExAC,TOPMed,gnomAD
COSM1430373	p.Pro940Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5810374C>T	NCI-TCGA Cosmic
RCV000513812	p.Gln941Ter	nonsense	-	NC_000004.12:g.5810377C>T	ClinVar
rs896581899	p.Gln941Ter	stop gained	-	NC_000004.12:g.5810377C>T	TOPMed,gnomAD
rs760434057	p.Arg943Gly	missense variant	-	NC_000004.12:g.5810383A>G	ExAC,gnomAD
rs201797767	p.Asp945Gly	missense variant	-	NC_000004.12:g.5810390A>G	ExAC,TOPMed,gnomAD
RCV000668915	p.Asp945Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810383_5810384AG[1]	ClinVar
rs1440423656	p.Leu946Val	missense variant	-	NC_000004.12:g.5810392C>G	TOPMed,gnomAD
rs776536940	p.Leu946Arg	missense variant	-	NC_000004.12:g.5810393T>G	ExAC,TOPMed
COSM269121	p.Leu946Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5810393T>C	NCI-TCGA Cosmic
rs765277897	p.Gly947Val	missense variant	-	NC_000004.12:g.5810396G>T	ExAC,TOPMed,gnomAD
rs752591755	p.Val948Leu	missense variant	-	NC_000004.12:g.5810398G>T	ExAC,gnomAD
RCV000669239	p.Val948Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810398dup	ClinVar
COSM3302396	p.Val948CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5810394G>-	NCI-TCGA Cosmic
rs760314747	p.Asn950Ile	missense variant	-	NC_000004.12:g.5810405A>T	gnomAD
rs371561252	p.Asn951Lys	missense variant	-	NC_000004.12:g.5810409T>G	ESP,gnomAD
rs758406345	p.Glu952Ter	stop gained	-	NC_000004.12:g.5810410G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp953Gly	missense variant	-	NC_000004.12:g.5810414A>G	NCI-TCGA
rs751735837	p.Asp953Glu	missense variant	-	NC_000004.12:g.5810415C>A	ExAC,gnomAD
rs544720936	p.Asp953Val	missense variant	-	NC_000004.12:g.5810414A>T	1000Genomes,ExAC,gnomAD
VAR_009950	p.Asp953Gly	Missense	-	-	UniProt
rs1305591957	p.Leu954Val	missense variant	-	NC_000004.12:g.5810416C>G	gnomAD
rs35926225	p.Gly957Arg	missense variant	-	NC_000004.12:g.5810425G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000327257	p.Gly957Arg	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5810425G>A	ClinVar
rs35926225	p.Gly957Arg	missense variant	-	NC_000004.12:g.5810425G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1322589866	p.Gly957Glu	missense variant	-	NC_000004.12:g.5810426G>A	TOPMed,gnomAD
RCV000366129	p.Gly957Arg	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5810425G>A	ClinVar
RCV000321865	p.Asp958Asn	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5810428G>A	ClinVar
RCV000264485	p.Asp958Asn	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5810428G>A	ClinVar
rs35287723	p.Asp958Asn	missense variant	-	NC_000004.12:g.5810428G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35287723	p.Asp958Tyr	missense variant	-	NC_000004.12:g.5810428G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1259932360	p.Gln959Glu	missense variant	-	NC_000004.12:g.5810431C>G	gnomAD
rs1259932360	p.Gln959Ter	stop gained	-	NC_000004.12:g.5810431C>T	gnomAD
rs780548102	p.Thr960Ser	missense variant	-	NC_000004.12:g.5810435C>G	ExAC,gnomAD
rs780548102	p.Thr960Asn	missense variant	-	NC_000004.12:g.5810435C>A	ExAC,gnomAD
rs749814632	p.Ser961Leu	missense variant	-	NC_000004.12:g.5810438C>T	ExAC,gnomAD
rs200792019	p.Ser963Leu	missense variant	-	NC_000004.12:g.5810444C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1200375114	p.Leu964Phe	missense variant	-	NC_000004.12:g.5810446C>T	gnomAD
rs1479676242	p.Ser965Cys	missense variant	-	NC_000004.12:g.5810449A>T	gnomAD
RCV000667658	p.Ser965Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810449dup	ClinVar
VAR_009951	p.Ser965del	inframe_deletion	-	-	UniProt
rs753263392	p.Lys967Arg	missense variant	-	NC_000004.12:g.5810958A>G	ExAC,TOPMed,gnomAD
rs1381337375	p.Lys967Asn	missense variant	-	NC_000004.12:g.5810959A>C	TOPMed,gnomAD
rs1452806908	p.Lys967Glu	missense variant	-	NC_000004.12:g.5810957A>G	gnomAD
rs1453274701	p.Arg968Lys	missense variant	-	NC_000004.12:g.5810961G>A	gnomAD
rs756750818	p.Ser970Ile	missense variant	-	NC_000004.12:g.5810967G>T	ExAC,gnomAD
rs780590402	p.Gln971Pro	missense variant	-	NC_000004.12:g.5810970A>C	ExAC,gnomAD
rs1242343349	p.Gln972Ter	stop gained	-	NC_000004.12:g.5810972C>T	gnomAD
RCV000672575	p.Glu973Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810974_5810993del	ClinVar
RCV000723261	p.Ser974Ter	frameshift	-	NC_000004.12:g.5810955_5810976dup	ClinVar
RCV000674172	p.Ser974Ter	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810978del	ClinVar
rs1015506431	p.Ala976Pro	missense variant	-	NC_000004.12:g.5810984G>C	TOPMed,gnomAD
rs1015506431	p.Ala976Thr	missense variant	-	NC_000004.12:g.5810984G>A	TOPMed,gnomAD
rs749142395	p.Gly977Glu	missense variant	-	NC_000004.12:g.5810988G>A	ExAC,TOPMed,gnomAD
rs779822434	p.Gly977Arg	missense variant	-	NC_000004.12:g.5810987G>A	ExAC,gnomAD
RCV000348991	p.Gly977Glu	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5810988G>A	ClinVar
RCV000280799	p.Gly977Glu	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5810988G>A	ClinVar
rs150173231	p.Asp978Asn	missense variant	-	NC_000004.12:g.5810990G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150173231	p.Asp978Tyr	missense variant	-	NC_000004.12:g.5810990G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000554752	p.Asp978Tyr	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810990G>T	ClinVar
rs761683022	p.Ser979Asn	missense variant	-	NC_000004.12:g.5810994G>A	ExAC,gnomAD
rs375360718	p.Gly980Arg	missense variant	-	NC_000004.12:g.5810996G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1156741604	p.Lys984Ter	stop gained	-	NC_000004.12:g.5811008A>T	gnomAD
rs1258624511	p.Met985Thr	missense variant	-	NC_000004.12:g.5811012T>C	TOPMed
rs777122018	p.Arg988Gly	missense variant	-	NC_000004.12:g.5811020A>G	ExAC,gnomAD
rs866836081	p.Arg989Lys	missense variant	-	NC_000004.12:g.5811024G>A	gnomAD
rs759914595	p.Arg989Ser	missense variant	-	NC_000004.12:g.5811025A>C	ExAC,TOPMed,gnomAD
rs866836081	p.Arg989Thr	missense variant	-	NC_000004.12:g.5811024G>C	gnomAD
rs1403739426	p.Ser990Asn	missense variant	-	NC_000004.12:g.5811027G>A	TOPMed,gnomAD
rs1403739426	p.Ser990Ile	missense variant	-	NC_000004.12:g.5811027G>T	TOPMed,gnomAD
rs765727621	p.Asn991Ser	missense variant	-	NC_000004.12:g.5811030A>G	ExAC,gnomAD
rs1444464669	p.Asn991Asp	missense variant	-	NC_000004.12:g.5811029A>G	gnomAD
rs1372947352	p.Leu992Ser	missense variant	-	NC_000004.12:g.5811033T>C	gnomAD
rs1222257047	p.Ter993Gln	stop lost	-	NC_000004.12:g.5811035T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005586	Bipolar Disorder	disease	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0009081	Congenital clubfoot	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	HPO
C0013336	Dwarfism	disease	BEFREE
C0013393	Dysostoses	disease	BEFREE
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	BEFREE;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
C0043207	Wolfram Syndrome	disease	LHGDN
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
C0266037	Peg-shaped teeth	disease	HPO
C0266054	Premature tooth eruption	phenotype	HPO
C0266642	Situs ambiguus	disease	HPO
C0341007	Alveolar ridge abnormality	phenotype	HPO
C0392482	Common atrium	disease	HPO
C0392885	High density lipoprotein measurement	phenotype	GWASDB
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
C0457013	Weyers acrofacial dysostosis	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0563449	Epispadias, male (disorder)	disease	HPO
C0575802	Small hand	phenotype	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0685787	Cleft face	disease	HPO
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0848558	Hypospadias	group	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1389016	ATRIOVENTRICULAR CANAL DEFECT	phenotype	HPO
C1446712	Overlapping fingers	phenotype	HPO
C1691215	Penile hypospadias	disease	HPO
C1834405	Nail dysplasia	disease	HPO
C1837279	Hypoplastic toenails	phenotype	HPO
C1839829	Short distal phalanx of finger	phenotype	HPO
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
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
C1852197	MAJOR AFFECTIVE DISORDER 1	disease	BEFREE
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
C1970943	MAJOR AFFECTIVE DISORDER 4	disease	BEFREE
C1970945	MAJOR AFFECTIVE DISORDER 6	disease	BEFREE
C2112129	Postaxial foot polydactyly	disease	HPO
C2315100	Pediatric failure to thrive	disease	HPO
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:0001501	skeletal system development	TAS
GO:0003416	endochondral bone growth	ISS
GO:0007224	smoothened signaling pathway	IEA
GO:0007517	muscle organ development	TAS
GO:0045880	positive regulation of smoothened signaling pathway	ISS
GO:0051216	cartilage development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IEA
GO:0005929	cilium	IDA
GO:0016021	integral component of membrane	IEA
GO:0036064	ciliary basal body	ISS
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
C496492	abrine	abrine results in increased expression of EVC mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of EVC mRNA	29067470
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of EVC intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of EVC mRNA	23630614; 25378103;
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of EVC mRNA	24449571
D001280	Atrazine	Atrazine affects the methylation of EVC gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of EVC intron	30157460
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in decreased expression of EVC mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EVC mRNA	15034205
C006780	bisphenol A	bisphenol A results in decreased expression of EVC mRNA	28159858
C006780	bisphenol A	bisphenol A results in decreased expression of EVC mRNA	25181051; 30816183;
C018475	butyraldehyde	butyraldehyde results in decreased expression of EVC mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of EVC mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of EVC mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of EVC mRNA	31150632
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of EVC mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of EVC mRNA	25270620
C000944	dicrotophos	dicrotophos results in increased expression of EVC mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in decreased expression of EVC mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of EVC mRNA	29391264
D000431	Ethanol	Ethanol results in increased expression of EVC mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EVC mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of EVC mRNA	23129252
C540355	fenamidone	fenamidone results in increased expression of EVC mRNA	27029645
D005557	Formaldehyde	Formaldehyde results in increased expression of EVC mRNA	23649840
C039281	furan	furan results in decreased expression of EVC mRNA	24183702
D000077339	Leflunomide	Leflunomide results in decreased expression of EVC mRNA	28988120
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of EVC mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of EVC mRNA	25620056
D009532	Nickel	Nickel results in decreased expression of EVC mRNA	24768652; 25583101;
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of EVC mRNA	23608068
D011374	Progesterone	Progesterone results in increased expression of EVC mRNA	19690047
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of EVC mRNA	27029645
D012643	Selenium	Selenium results in increased expression of EVC mRNA	19244175
D000077210	Sunitinib	Sunitinib results in decreased expression of EVC mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of EVC mRNA	31299295
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of EVC mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of EVC mRNA	21592394
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of EVC mRNA	25172293
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in decreased expression of EVC mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EVC mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of EVC mRNA	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of EVC mRNA	19933214
C009495	titanium dioxide	titanium dioxide results in decreased expression of EVC mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of EVC mRNA	28065790
D014212	Tretinoin	Tretinoin results in increased expression of EVC mRNA	23724009
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of EVC mRNA	19042947
D014635	Valproic Acid	Valproic Acid results in decreased expression of EVC mRNA	28001369
D014640	Vancomycin	Vancomycin results in increased expression of EVC mRNA	18930951
D014750	Vincristine	Vincristine results in increased expression of EVC mRNA	23649840
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of EVC mRNA	26682919

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1003	Cell membrane
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0242	Dwarfism
KW-0038	Ectodermal dysplasia
KW-0472	Membrane
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR026582	Evc
IPR026501	Limbin/Ellis-van_Creveld

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: EVC

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