CleftGeneDB-Search

Gene: AMER1

Basic information

Tag	Content
Uniprot ID	Q5JTC6; A2IB86; Q8N885;
Entrez ID	139285
Genbank protein ID	ABM60755.1; BAC04964.1;
Genbank nucleotide ID	NM_152424.3
Ensembl protein ID	ENSP00000364003
Ensembl nucleotide ID	ENSG00000184675
Gene name	APC membrane recruitment protein 1
Gene symbol	AMER1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development.
Sequence	METQKDEAAQ AKGAAASGST REQTAEKGAK NKAAEATEGP TSEPSSSGPG RLKKTAMKLF 60 GGKKGICTLP SFFGGGRSKG SGKGSSKKGL SKSKTHDGLS EAAHGPEDVV SEGTGFSLPL 120 PELPCQFPSS QSAHGALETG SRCKTSVAGA TEKAVAEKFP SMPKPKKGLK GFFSSIRRHR 180 KSKVTGAEQS EPGAKGPERV RARPHEHVSS APQVPCFEET FQAPRKENAN PQDAPGPKVS 240 PTPEPSPPAT EKMACKDPEK PMEACASAHV QPKPAPEASS LEEPHSPETG EKVVAGEVNP 300 PNGPVGDPLS LLFGDVTSLK SFDSLTGCGD IIAEQDMDSM TDSMASGGQR ANRDGTKRSS 360 CLVTYQGGGE EMALPDDDDE EEEEEEEVEL EEEEEEVKEE EEDDDLEYLW ETAQMYPRPN 420 MNLGYHPTTS PGHHGYMLLD PVRSYPGLAP GELLTPQSDQ QESAPNSDEG YYDSTTPGFE 480 DDSGEALGLV RRDCLPRDSY SGDALYEFYE PDDSLENSPP GDDCLYDLHG RSSEMFDPFL 540 NFEPFLSSRP PGAMETEEER LVTIQKQLLY WELRREQLEA QEARAREAHA REAHAREAYT 600 REAYGREAYA REAHTWEAHG REARTREAQA REVRCRETQV RETQARQEKP VLEYQMRPLG 660 PSVMGLAAGV SGTSQISHRG ITSAFPTTAS SEPDWRDFRP LEKRYEGTCS KKDQSTCLMQ 720 LFQSDAMFEP DMQEANFGGS PRRAYPTYSP PEDPEEEEVE KEGNATVSFS QALVEFTSNG 780 NLFSSMSCSS DSDSSFTQNL PELPPMVTFD IADVERDGEG KCEENPEFHN DEDLAASLEA 840 FELGYYHKHA FNNYHSRFYQ GLPWGVSSLP RYLGLPGLHP RPPPAAMALN RRSRSLDTAE 900 TLEMELSNSH LVQGYLESDE LQAQQEDSDE EDEEEEEGEW SRDSPLSLYT EPPGAYDWPA 960 WAPCPLPVGP GPAWISPNQL DRPSSQSPYR QATCCIPPMT MSISLSVPES RAPGESGPQL 1020 ARPSHLHLPM GPCYNLQPQA SQSMRARPRD VLLPVDEPSC SSSSGGFSPS PLPQAKPVGI 1080 THGIPQLPRV RPEHPQPQPT HYGPSSLDLS KERAEQGASL ATSYSSTAMN GNLAK 1135

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
4YJE
4YJL

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	AMER1	100054310	F6WVP3		Equus caballus	Prediction	More>>
1:1 ortholog	AMER1	139285	Q5JTC6		Homo sapiens	Prediction	More>>
1:1 ortholog	Amer1	72345	Q7TS75	CPO	Mus musculus	Publication	More>>
1:1 ortholog	AMER1		H2R4P7		Pan troglodytes	Prediction	More>>
1:1 ortholog	AMER1	100512031	A0A5K1UCI1		Sus scrofa	Prediction	More>>
1:1 ortholog	Amer1	501584	D3ZCP6		Rattus norvegicus	Prediction	More>>
1:1 ortholog	amer1		F1RDM5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1408167220	p.Glu2Asp	missense variant	-	NC_000023.11:g.64193281C>A	gnomAD
rs1330731381	p.Glu2Lys	missense variant	-	NC_000023.11:g.64193283C>T	TOPMed,gnomAD
rs779886859	p.Thr3Ala	missense variant	-	NC_000023.11:g.64193280T>C	ExAC,gnomAD
rs745487306	p.Lys5Thr	missense variant	-	NC_000023.11:g.64193273T>G	ExAC,gnomAD
rs985833569	p.Glu7Asp	missense variant	-	NC_000023.11:g.64193266T>A	TOPMed
rs756853564	p.Ala9Pro	missense variant	-	NC_000023.11:g.64193262C>G	ExAC,gnomAD
rs756853564	p.Ala9Thr	missense variant	-	NC_000023.11:g.64193262C>T	ExAC,gnomAD
rs1373608390	p.Gln10Ter	stop gained	-	NC_000023.11:g.64193259G>A	TOPMed
rs1373608390	p.Gln10Glu	missense variant	-	NC_000023.11:g.64193259G>C	TOPMed
rs751041995	p.Gln10His	missense variant	-	NC_000023.11:g.64193257C>A	ExAC,TOPMed,gnomAD
rs947597246	p.Ala11Val	missense variant	-	NC_000023.11:g.64193255G>A	TOPMed
rs1180225605	p.Gly13Arg	missense variant	-	NC_000023.11:g.64193250C>T	gnomAD
rs779297568	p.Gly13Ala	missense variant	-	NC_000023.11:g.64193249C>G	ExAC,TOPMed,gnomAD
rs1225181715	p.Ala14Ser	missense variant	-	NC_000023.11:g.64193247C>A	TOPMed
rs1287116053	p.Ala15Val	missense variant	-	NC_000023.11:g.64193243G>A	TOPMed
rs1279998398	p.Ala16Thr	missense variant	-	NC_000023.11:g.64193241C>T	gnomAD
rs528118163	p.Ser17Cys	missense variant	-	NC_000023.11:g.64193237G>C	ExAC,gnomAD
rs780678741	p.Thr20Ile	missense variant	-	NC_000023.11:g.64193228G>A	TOPMed,gnomAD
rs374303948	p.Arg21His	missense variant	-	NC_000023.11:g.64193225C>T	ESP,ExAC,TOPMed,gnomAD
rs766733052	p.Arg21Cys	missense variant	-	NC_000023.11:g.64193226G>A	ExAC,TOPMed,gnomAD
rs767686564	p.Ala25Val	missense variant	-	NC_000023.11:g.64193213G>A	ExAC,TOPMed,gnomAD
rs770660992	p.Gly28Ala	missense variant	-	NC_000023.11:g.64193204C>G	1000Genomes
RCV000120005	p.Ala29Thr	missense variant	-	NC_000023.11:g.64193202C>T	ClinVar
rs138399473	p.Ala29Thr	missense variant	-	NC_000023.11:g.64193202C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200635128	p.Asn31Lys	missense variant	-	NC_000023.11:g.64193194G>T	1000Genomes
rs774731567	p.Asn31Asp	missense variant	-	NC_000023.11:g.64193196T>C	1000Genomes,ExAC,gnomAD
rs768534964	p.Ala33Glu	missense variant	-	NC_000023.11:g.64193189G>T	ExAC,TOPMed,gnomAD
rs191091408	p.Ala34Ser	missense variant	-	NC_000023.11:g.64193187C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs775192033	p.Glu35Asp	missense variant	-	NC_000023.11:g.64193182C>G	ExAC,gnomAD
rs769613326	p.Ala36Val	missense variant	-	NC_000023.11:g.64193180G>A	ExAC,gnomAD
rs1411693889	p.Ala36Thr	missense variant	-	NC_000023.11:g.64193181C>T	TOPMed
rs1157159299	p.Thr37Ala	missense variant	-	NC_000023.11:g.64193178T>C	gnomAD
rs199995488	p.Gly39Val	missense variant	-	NC_000023.11:g.64193171C>A	ExAC,TOPMed,gnomAD
rs1190709308	p.Ser45Phe	missense variant	-	NC_000023.11:g.64193153G>A	gnomAD
rs777329368	p.Gly48Ser	missense variant	-	NC_000023.11:g.64193145C>T	ExAC,gnomAD
rs1285996741	p.Leu52Val	missense variant	-	NC_000023.11:g.64193133G>C	gnomAD
rs965178548	p.Met57Ile	missense variant	-	NC_000023.11:g.64193116C>A	TOPMed
rs755475786	p.Met57Val	missense variant	-	NC_000023.11:g.64193118T>C	ExAC,TOPMed,gnomAD
rs754346017	p.Lys58Gln	missense variant	-	NC_000023.11:g.64193115T>G	ExAC,gnomAD
rs147040794	p.Gly62Val	missense variant	-	NC_000023.11:g.64193102C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000119999	p.Gly62Val	missense variant	-	NC_000023.11:g.64193102C>A	ClinVar
rs780369368	p.Gly62Arg	missense variant	-	NC_000023.11:g.64193103C>G	ExAC,gnomAD
rs750745643	p.Lys63Asn	missense variant	-	NC_000023.11:g.64193098C>A	ExAC,gnomAD
rs767748008	p.Gly65Val	missense variant	-	NC_000023.11:g.64193093C>A	ExAC,TOPMed,gnomAD
rs1315992336	p.Cys67Tyr	missense variant	-	NC_000023.11:g.64193087C>T	TOPMed
rs376576434	p.Leu69Met	missense variant	-	NC_000023.11:g.64193082G>T	ESP,ExAC,TOPMed,gnomAD
rs373635767	p.Gly75Glu	missense variant	-	NC_000023.11:g.64193063C>T	ESP,TOPMed
rs141435173	p.Gly76Glu	missense variant	-	NC_000023.11:g.64193060C>T	ESP,gnomAD
rs141435173	p.Gly76Val	missense variant	-	NC_000023.11:g.64193060C>A	ESP,gnomAD
rs201650985	p.Arg77Gln	missense variant	-	NC_000023.11:g.64193057C>T	ESP,ExAC,TOPMed,gnomAD
rs1439395594	p.Arg77Trp	missense variant	-	NC_000023.11:g.64193058G>A	TOPMed
rs762853892	p.Gly80Ala	missense variant	-	NC_000023.11:g.64193048C>G	ExAC,TOPMed,gnomAD
rs775507033	p.Gly82Trp	missense variant	-	NC_000023.11:g.64193043C>A	ExAC,gnomAD
rs1417833376	p.Gly82Val	missense variant	-	NC_000023.11:g.64193042C>A	gnomAD
rs1186604574	p.Lys83Arg	missense variant	-	NC_000023.11:g.64193039T>C	gnomAD
rs1485943712	p.Gly84Ser	missense variant	-	NC_000023.11:g.64193037C>T	gnomAD
rs769547736	p.Ser85Asn	missense variant	-	NC_000023.11:g.64193033C>T	ExAC,TOPMed,gnomAD
rs759431653	p.Lys87Thr	missense variant	-	NC_000023.11:g.64193027T>G	ExAC,gnomAD
rs1188765751	p.Lys87Glu	missense variant	-	NC_000023.11:g.64193028T>C	TOPMed
rs1446174636	p.Lys88Asn	missense variant	-	NC_000023.11:g.64193023T>A	TOPMed,gnomAD
RCV000489502	p.Gly89Ter	frameshift	-	NC_000023.11:g.64193026del	ClinVar
rs1406041946	p.Gly89Val	missense variant	-	NC_000023.11:g.64193021C>A	gnomAD
rs781369600	p.Leu90Val	missense variant	-	NC_000023.11:g.64193019G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781369600	p.Leu90Phe	missense variant	-	NC_000023.11:g.64193019G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs781369600	p.Leu90Ile	missense variant	-	NC_000023.11:g.64193019G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000593697	p.Ser91Gly	missense variant	-	NC_000023.11:g.64193016T>C	ClinVar
rs1555933649	p.Ser91Gly	missense variant	-	NC_000023.11:g.64193016T>C	-
rs772656826	p.Lys92Glu	missense variant	-	NC_000023.11:g.64193013T>C	ExAC,TOPMed,gnomAD
rs1292666084	p.Ser93Asn	missense variant	-	NC_000023.11:g.64193009C>T	gnomAD
rs771626073	p.Lys94Asn	missense variant	-	NC_000023.11:g.64193005C>G	ExAC,gnomAD
rs1412024807	p.Thr95Ile	missense variant	-	NC_000023.11:g.64193003G>A	TOPMed
rs1350779419	p.Asp97Asn	missense variant	-	NC_000023.11:g.64192998C>T	gnomAD
rs1414795004	p.Asp97Gly	missense variant	-	NC_000023.11:g.64192997T>C	TOPMed
rs1328313050	p.Ser100Gly	missense variant	-	NC_000023.11:g.64192989T>C	gnomAD
rs944950970	p.Ala103Thr	missense variant	-	NC_000023.11:g.64192980C>T	gnomAD
rs149109618	p.His104Leu	missense variant	-	NC_000023.11:g.64192976T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149109618	p.His104Arg	missense variant	-	NC_000023.11:g.64192976T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746279728	p.His104Asp	missense variant	-	NC_000023.11:g.64192977G>C	ExAC,gnomAD
rs1428526174	p.Gly105Val	missense variant	-	NC_000023.11:g.64192973C>A	gnomAD
rs764161315	p.Glu112Lys	missense variant	-	NC_000023.11:g.64192953C>T	ExAC,gnomAD
rs758505952	p.Gly113Arg	missense variant	-	NC_000023.11:g.64192950C>T	ExAC,gnomAD
rs1467013819	p.Thr114Ser	missense variant	-	NC_000023.11:g.64192946G>C	gnomAD
rs1198543372	p.Ser117Cys	missense variant	-	NC_000023.11:g.64192937G>C	TOPMed
RCV000597832	p.Ser117Cys	missense variant	-	NC_000023.11:g.64192937G>C	ClinVar
rs759519548	p.Pro119Arg	missense variant	-	NC_000023.11:g.64192931G>C	ExAC,gnomAD
rs1309286579	p.Pro119Ala	missense variant	-	NC_000023.11:g.64192932G>C	gnomAD
rs776637853	p.Pro121Thr	missense variant	-	NC_000023.11:g.64192926G>T	ExAC,gnomAD
rs766266442	p.Leu123Phe	missense variant	-	NC_000023.11:g.64192918T>G	ExAC,gnomAD
rs200397022	p.Phe127Ser	missense variant	-	NC_000023.11:g.64192907A>G	ESP,ExAC,TOPMed,gnomAD
rs1394216535	p.Pro128Ser	missense variant	-	NC_000023.11:g.64192905G>A	gnomAD
rs747715726	p.Gln131His	missense variant	-	NC_000023.11:g.64192894C>G	ExAC,gnomAD
rs1167666179	p.Ala133Val	missense variant	-	NC_000023.11:g.64192889G>A	gnomAD
rs770324787	p.His134Tyr	missense variant	-	NC_000023.11:g.64192887G>A	ExAC,gnomAD
rs146489129	p.His134Leu	missense variant	-	NC_000023.11:g.64192886T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146489129	p.His134Pro	missense variant	-	NC_000023.11:g.64192886T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1195123555	p.Gly135Glu	missense variant	-	NC_000023.11:g.64192883C>T	gnomAD
rs1252176509	p.Leu137Ser	missense variant	-	NC_000023.11:g.64192877A>G	gnomAD
rs1411299812	p.Thr139Ala	missense variant	-	NC_000023.11:g.64192872T>C	gnomAD
rs747267454	p.Arg142Thr	missense variant	-	NC_000023.11:g.64192862C>G	ExAC,gnomAD
RCV000022871	p.Cys143Ter	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192858A>T	ClinVar
rs387906722	p.Cys143Ter	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192858A>T	-
rs778083461	p.Cys143Tyr	missense variant	-	NC_000023.11:g.64192859C>T	ExAC,gnomAD
rs1374165181	p.Ser146Phe	missense variant	-	NC_000023.11:g.64192850G>A	TOPMed
rs1249584243	p.Ala148Gly	missense variant	-	NC_000023.11:g.64192844G>C	gnomAD
rs1282660397	p.Ala150Thr	missense variant	-	NC_000023.11:g.64192839C>T	TOPMed,gnomAD
rs753451245	p.Ala150Gly	missense variant	-	NC_000023.11:g.64192838G>C	1000Genomes,ExAC,gnomAD
rs753451245	p.Ala150Asp	missense variant	-	NC_000023.11:g.64192838G>T	1000Genomes,ExAC,gnomAD
rs766354344	p.Thr151Pro	missense variant	-	NC_000023.11:g.64192836T>G	ExAC
rs772834481	p.Glu152Gln	missense variant	-	NC_000023.11:g.64192833C>G	ExAC
rs1308131685	p.Ala154Thr	missense variant	-	NC_000023.11:g.64192827C>T	TOPMed,gnomAD
rs1371810064	p.Ala156Thr	missense variant	-	NC_000023.11:g.64192821C>T	gnomAD
RCV000120008	p.Phe159Leu	missense variant	-	NC_000023.11:g.64192810A>C	ClinVar
rs34677493	p.Phe159Leu	missense variant	-	NC_000023.11:g.64192810A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760337524	p.Pro160Ser	missense variant	-	NC_000023.11:g.64192809G>A	1000Genomes,ExAC,gnomAD
rs768139000	p.Met162Val	missense variant	-	NC_000023.11:g.64192803T>C	ExAC,gnomAD
rs762389559	p.Pro163Ser	missense variant	-	NC_000023.11:g.64192800G>A	ExAC,gnomAD
rs777125067	p.Lys164Glu	missense variant	-	NC_000023.11:g.64192797T>C	ExAC,gnomAD
rs771383753	p.Pro165Ser	missense variant	-	NC_000023.11:g.64192794G>A	ExAC,gnomAD
rs747418392	p.Gly168Cys	missense variant	-	NC_000023.11:g.64192785C>A	ExAC,TOPMed,gnomAD
rs1176557852	p.Gly168Asp	missense variant	-	NC_000023.11:g.64192784C>T	gnomAD
rs747418392	p.Gly168Ser	missense variant	-	NC_000023.11:g.64192785C>T	ExAC,TOPMed,gnomAD
rs1176557852	p.Gly168Ala	missense variant	-	NC_000023.11:g.64192784C>G	gnomAD
rs777973792	p.Leu169Val	missense variant	-	NC_000023.11:g.64192782G>C	ExAC,TOPMed,gnomAD
rs779222316	p.Arg177His	missense variant	-	NC_000023.11:g.64192757C>T	ExAC,gnomAD
rs369902795	p.Arg177Cys	missense variant	-	NC_000023.11:g.64192758G>A	ESP,ExAC,TOPMed,gnomAD
rs376626895	p.Arg178Cys	missense variant	-	NC_000023.11:g.64192755G>A	ESP,ExAC,TOPMed,gnomAD
rs753930754	p.Arg178His	missense variant	-	NC_000023.11:g.64192754C>T	ExAC,TOPMed,gnomAD
rs755983037	p.Arg180Gln	missense variant	-	NC_000023.11:g.64192748C>T	ExAC,gnomAD
rs780162759	p.Arg180Trp	missense variant	-	NC_000023.11:g.64192749G>A	ExAC,gnomAD
rs1415971598	p.Ser182Asn	missense variant	-	NC_000023.11:g.64192742C>T	TOPMed,gnomAD
rs1210190530	p.Val184Ile	missense variant	-	NC_000023.11:g.64192737C>T	gnomAD
rs1314151624	p.Thr185Asn	missense variant	-	NC_000023.11:g.64192733G>T	gnomAD
rs750271277	p.Gly186Arg	missense variant	-	NC_000023.11:g.64192731C>G	ExAC,TOPMed,gnomAD
rs1401042580	p.Ala187Thr	missense variant	-	NC_000023.11:g.64192728C>T	TOPMed,gnomAD
rs1455094602	p.Gln189Arg	missense variant	-	NC_000023.11:g.64192721T>C	gnomAD
RCV000443715	p.Glu191Ter	nonsense	-	NC_000023.11:g.64192716C>A	ClinVar
rs1057520610	p.Glu191Ter	stop gained	-	NC_000023.11:g.64192716C>A	-
rs761582333	p.Ala194Thr	missense variant	-	NC_000023.11:g.64192707C>T	ExAC,gnomAD
rs751224138	p.Gly196Trp	missense variant	-	NC_000023.11:g.64192701C>A	ExAC,TOPMed,gnomAD
rs751224138	p.Gly196Arg	missense variant	-	NC_000023.11:g.64192701C>T	ExAC,TOPMed,gnomAD
rs762477559	p.Pro197Thr	missense variant	-	NC_000023.11:g.64192698G>T	ExAC,TOPMed,gnomAD
rs774927630	p.Glu198Lys	missense variant	-	NC_000023.11:g.64192695C>T	ExAC,gnomAD
rs771513377	p.Val200Phe	missense variant	-	NC_000023.11:g.64192689C>A	ExAC,gnomAD
rs1040925879	p.Ala202Gly	missense variant	-	NC_000023.11:g.64192682G>C	TOPMed,gnomAD
rs1262620539	p.His205Arg	missense variant	-	NC_000023.11:g.64192673T>C	gnomAD
rs772338892	p.Val208Met	missense variant	-	NC_000023.11:g.64192665C>T	ExAC,TOPMed,gnomAD
rs748480637	p.Ser209Cys	missense variant	-	NC_000023.11:g.64192662T>A	ExAC,gnomAD
rs1234332616	p.Ser209Ile	missense variant	-	NC_000023.11:g.64192661C>A	gnomAD
rs779310326	p.Ser210Leu	missense variant	-	NC_000023.11:g.64192658G>A	ExAC,gnomAD
rs976430958	p.Ser210Pro	missense variant	-	NC_000023.11:g.64192659A>G	TOPMed
rs1175084390	p.Ala211Thr	missense variant	-	NC_000023.11:g.64192656C>T	TOPMed
rs1378122287	p.Pro212Leu	missense variant	-	NC_000023.11:g.64192652G>A	TOPMed
rs749429391	p.Gln213Arg	missense variant	-	NC_000023.11:g.64192649T>C	ExAC,TOPMed,gnomAD
rs756142618	p.Pro215Ser	missense variant	-	NC_000023.11:g.64192644G>A	ExAC,TOPMed,gnomAD
RCV000505557	p.Glu219Ter	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192633del	ClinVar
rs1383586883	p.Glu219Lys	missense variant	-	NC_000023.11:g.64192632C>T	gnomAD
rs202069335	p.Thr220Ile	missense variant	-	NC_000023.11:g.64192628G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs202069335	p.Thr220Ser	missense variant	-	NC_000023.11:g.64192628G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202069335	p.Thr220Asn	missense variant	-	NC_000023.11:g.64192628G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs375008897	p.Gln222Arg	missense variant	-	NC_000023.11:g.64192622T>C	ESP
rs1319609386	p.Gln222Glu	missense variant	-	NC_000023.11:g.64192623G>C	gnomAD
rs1461828261	p.Ala223Thr	missense variant	-	NC_000023.11:g.64192620C>T	gnomAD
RCV000011450	p.Pro224Ter	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192619del	ClinVar
rs140299861	p.Asn228Ile	missense variant	-	NC_000023.11:g.64192604T>A	ESP,ExAC,gnomAD
rs763754641	p.Pro231Ala	missense variant	-	NC_000023.11:g.64192596G>C	ExAC,gnomAD
rs763371059	p.Gln232His	missense variant	-	NC_000023.11:g.64192591T>A	1000Genomes
rs762567310	p.Gln232Pro	missense variant	-	NC_000023.11:g.64192592T>G	ExAC,gnomAD
rs146685042	p.Asp233His	missense variant	-	NC_000023.11:g.64192590C>G	ESP,ExAC,TOPMed,gnomAD
rs146685042	p.Asp233Tyr	missense variant	-	NC_000023.11:g.64192590C>A	ESP,ExAC,TOPMed,gnomAD
rs764643650	p.Ala234Val	missense variant	-	NC_000023.11:g.64192586G>A	ExAC,gnomAD
rs1247681502	p.Gly236Glu	missense variant	-	NC_000023.11:g.64192580C>T	gnomAD
rs1322854723	p.Gly236Arg	missense variant	-	NC_000023.11:g.64192581C>T	TOPMed
RCV000492795	p.Pro237Ter	frameshift	-	NC_000023.11:g.64192582del	ClinVar
rs1214698838	p.Lys238Glu	missense variant	-	NC_000023.11:g.64192575T>C	gnomAD
rs1470153305	p.Ser240Tyr	missense variant	-	NC_000023.11:g.64192568G>T	gnomAD
rs1271751294	p.Pro241Ser	missense variant	-	NC_000023.11:g.64192566G>A	TOPMed,gnomAD
rs1213657177	p.Pro243Ala	missense variant	-	NC_000023.11:g.64192560G>C	TOPMed,gnomAD
rs1213657177	p.Pro243Ser	missense variant	-	NC_000023.11:g.64192560G>A	TOPMed,gnomAD
rs1050642982	p.Pro245His	missense variant	-	NC_000023.11:g.64192553G>T	gnomAD
rs759031456	p.Pro247Ser	missense variant	-	NC_000023.11:g.64192548G>A	ExAC,TOPMed
rs1351788055	p.Pro247Leu	missense variant	-	NC_000023.11:g.64192547G>A	TOPMed
rs149688443	p.Pro248Thr	missense variant	-	NC_000023.11:g.64192545G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768029529	p.Ala249Thr	missense variant	-	NC_000023.11:g.64192542C>T	ExAC,gnomAD
rs1324318011	p.Glu251Gly	missense variant	-	NC_000023.11:g.64192535T>C	gnomAD
rs139477886	p.Cys255Phe	missense variant	-	NC_000023.11:g.64192523C>A	ESP,TOPMed,gnomAD
rs139477886	p.Cys255Tyr	missense variant	-	NC_000023.11:g.64192523C>T	ESP,TOPMed,gnomAD
RCV000756989	p.Asp257Ter	frameshift	-	NC_000023.11:g.64192521dup	ClinVar
rs1404713868	p.Glu259Val	missense variant	-	NC_000023.11:g.64192511T>A	gnomAD
rs770333199	p.Pro261Ser	missense variant	-	NC_000023.11:g.64192506G>A	1000Genomes,ExAC,gnomAD
RCV000011451	p.Pro261Ter	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192511dup	ClinVar
rs749517394	p.Glu263Val	missense variant	-	NC_000023.11:g.64192499T>A	ExAC,TOPMed,gnomAD
RCV000120003	p.Ala264Thr	missense variant	-	NC_000023.11:g.64192497C>T	ClinVar
rs150929706	p.Ala264Thr	missense variant	-	NC_000023.11:g.64192497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781019812	p.His269Arg	missense variant	-	NC_000023.11:g.64192481T>C	ExAC,TOPMed,gnomAD
rs781019812	p.His269Leu	missense variant	-	NC_000023.11:g.64192481T>A	ExAC,TOPMed,gnomAD
rs757166034	p.Val270Met	missense variant	-	NC_000023.11:g.64192479C>T	ExAC,gnomAD
RCV000030706	p.Gln271Ter	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192476G>A	ClinVar
rs387907269	p.Gln271Ter	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192476G>A	-
rs1235910533	p.Pro272Leu	missense variant	-	NC_000023.11:g.64192472G>A	TOPMed
rs746852073	p.Pro274Ser	missense variant	-	NC_000023.11:g.64192467G>A	ExAC,gnomAD
rs958633014	p.Ala275Thr	missense variant	-	NC_000023.11:g.64192464C>T	TOPMed
rs777543770	p.Glu277Lys	missense variant	-	NC_000023.11:g.64192458C>T	ExAC,gnomAD
RCV000120004	p.Ala278Ser	missense variant	-	NC_000023.11:g.64192455C>A	ClinVar
rs35718712	p.Ala278Ser	missense variant	-	NC_000023.11:g.64192455C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs587778024	p.Ser279Gly	missense variant	-	NC_000023.11:g.64192452T>C	ExAC,TOPMed,gnomAD
RCV000119995	p.Ser279Gly	missense variant	-	NC_000023.11:g.64192452T>C	ClinVar
rs764880640	p.Ser280Arg	missense variant	-	NC_000023.11:g.64192447G>T	ExAC,TOPMed,gnomAD
rs747197554	p.His285Arg	missense variant	-	NC_000023.11:g.64192433T>C	1000Genomes,ExAC,gnomAD
rs1005392946	p.Thr289Ile	missense variant	-	NC_000023.11:g.64192421G>A	TOPMed
rs1435543004	p.Gly290Glu	missense variant	-	NC_000023.11:g.64192418C>T	TOPMed,gnomAD
rs1300950063	p.Gly290Arg	missense variant	-	NC_000023.11:g.64192419C>T	gnomAD
rs774922675	p.Glu291Lys	missense variant	-	NC_000023.11:g.64192416C>T	ExAC,gnomAD
RCV000120006	p.Lys292Asn	missense variant	-	NC_000023.11:g.64192411C>G	ClinVar
rs138948924	p.Lys292Asn	missense variant	-	NC_000023.11:g.64192411C>G	UniProt,dbSNP
VAR_031304	p.Lys292Asn	missense variant	-	NC_000023.11:g.64192411C>G	UniProt
rs138948924	p.Lys292Asn	missense variant	-	NC_000023.11:g.64192411C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390506851	p.Val294Glu	missense variant	-	NC_000023.11:g.64192406A>T	gnomAD
rs754747475	p.Ala295Thr	missense variant	-	NC_000023.11:g.64192404C>T	ExAC,TOPMed,gnomAD
rs775578747	p.Glu297Gly	missense variant	-	NC_000023.11:g.64192397T>C	ExAC,TOPMed,gnomAD
rs1393546514	p.Val298Ile	missense variant	-	NC_000023.11:g.64192395C>T	gnomAD
rs745954685	p.Pro300Thr	missense variant	-	NC_000023.11:g.64192389G>T	ExAC,TOPMed,gnomAD
rs745954685	p.Pro300Ala	missense variant	-	NC_000023.11:g.64192389G>C	ExAC,TOPMed,gnomAD
rs776745995	p.Pro301Ser	missense variant	-	NC_000023.11:g.64192386G>A	ExAC,TOPMed,gnomAD
rs776745995	p.Pro301Thr	missense variant	-	NC_000023.11:g.64192386G>T	ExAC,TOPMed,gnomAD
rs770891229	p.Pro301His	missense variant	-	NC_000023.11:g.64192385G>T	ExAC
rs1235049855	p.Asn302Ser	missense variant	-	NC_000023.11:g.64192382T>C	gnomAD
RCV000120007	p.Gly303Asp	missense variant	-	NC_000023.11:g.64192379C>T	ClinVar
rs200552684	p.Gly303Asp	missense variant	-	NC_000023.11:g.64192379C>T	ESP,ExAC,TOPMed,gnomAD
rs1177381002	p.Gly306Ala	missense variant	-	NC_000023.11:g.64192370C>G	TOPMed
rs143958560	p.Pro308Gln	missense variant	-	NC_000023.11:g.64192364G>T	ESP,ExAC,TOPMed,gnomAD
rs1418033358	p.Ser310Arg	missense variant	-	NC_000023.11:g.64192357G>T	TOPMed
rs200339567	p.Ser310Asn	missense variant	-	NC_000023.11:g.64192358C>T	TOPMed,gnomAD
rs140069386	p.Leu312Phe	missense variant	-	NC_000023.11:g.64192351C>G	ESP,TOPMed,gnomAD
rs1351147002	p.Asp315Glu	missense variant	-	NC_000023.11:g.64192342A>T	gnomAD
rs1236821690	p.Lys320Gln	missense variant	-	NC_000023.11:g.64192329T>G	gnomAD
rs758208915	p.Thr326Ala	missense variant	-	NC_000023.11:g.64192311T>C	1000Genomes,ExAC,gnomAD
rs1462336228	p.Gly329Asp	missense variant	-	NC_000023.11:g.64192301C>T	TOPMed
rs1416772696	p.Ile332Met	missense variant	-	NC_000023.11:g.64192291T>C	gnomAD
rs765907873	p.Ile332Val	missense variant	-	NC_000023.11:g.64192293T>C	ExAC,gnomAD
rs757897232	p.Gln335Glu	missense variant	-	NC_000023.11:g.64192284G>C	ExAC
rs752123255	p.Asp336Glu	missense variant	-	NC_000023.11:g.64192279G>C	ExAC,TOPMed,gnomAD
rs1226654010	p.Met340Leu	missense variant	-	NC_000023.11:g.64192269T>A	gnomAD
rs764628121	p.Ser343Ile	missense variant	-	NC_000023.11:g.64192259C>A	ExAC
rs763438860	p.Ala345Val	missense variant	-	NC_000023.11:g.64192253G>A	ExAC,TOPMed,gnomAD
RCV000190541	p.Ala345Val	missense variant	Spinocerebellar ataxia, X-linked	NC_000023.11:g.64192253G>A	ClinVar
rs923507144	p.Gly347Arg	missense variant	-	NC_000023.11:g.64192248C>T	TOPMed
rs753054242	p.Ala351Thr	missense variant	-	NC_000023.11:g.64192236C>T	ExAC,TOPMed,gnomAD
RCV000011453	p.Arg353Ter	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192230G>A	ClinVar
rs1157288902	p.Arg353Gln	missense variant	-	NC_000023.11:g.64192229C>T	gnomAD
rs137852216	p.Arg353Ter	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192230G>A	-
RCV000624757	p.Arg358Ter	nonsense	Inborn genetic diseases	NC_000023.11:g.64192215G>A	ClinVar
RCV000303504	p.Arg358Ter	nonsense	-	NC_000023.11:g.64192215G>A	ClinVar
RCV000011454	p.Arg358Ter	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192215G>A	ClinVar
rs374751715	p.Arg358Gln	missense variant	-	NC_000023.11:g.64192214C>T	ESP,ExAC,TOPMed,gnomAD
rs137852217	p.Arg358Ter	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192215G>A	ExAC,gnomAD
rs1235327141	p.Ser359Thr	missense variant	-	NC_000023.11:g.64192211C>G	gnomAD
rs771015941	p.Ser359Cys	missense variant	-	NC_000023.11:g.64192212T>A	ExAC,gnomAD
rs760684276	p.Ser360Pro	missense variant	-	NC_000023.11:g.64192209A>G	ExAC,TOPMed,gnomAD
rs943717871	p.Ser360Phe	missense variant	-	NC_000023.11:g.64192208G>A	TOPMed
rs1482068076	p.Val363Met	missense variant	-	NC_000023.11:g.64192200C>T	TOPMed
rs1286062627	p.Tyr365Cys	missense variant	-	NC_000023.11:g.64192193T>C	gnomAD
rs771949790	p.Gln366Glu	missense variant	-	NC_000023.11:g.64192191G>C	ExAC,gnomAD
rs747944110	p.Glu371Gly	missense variant	-	NC_000023.11:g.64192175T>C	ExAC,gnomAD
rs371680913	p.Met372Leu	missense variant	-	NC_000023.11:g.64192173T>A	ESP,TOPMed
rs1371092969	p.Ala373Ser	missense variant	-	NC_000023.11:g.64192170C>A	gnomAD
rs778737659	p.Leu374Ser	missense variant	-	NC_000023.11:g.64192166A>G	ExAC,gnomAD
rs1170189358	p.Pro375Thr	missense variant	-	NC_000023.11:g.64192164G>T	gnomAD
rs1353652548	p.Asp376Gly	missense variant	-	NC_000023.11:g.64192160T>C	TOPMed,gnomAD
rs1235155078	p.Asp376Tyr	missense variant	-	NC_000023.11:g.64192161C>A	TOPMed,gnomAD
rs1353652548	p.Asp376Ala	missense variant	-	NC_000023.11:g.64192160T>G	TOPMed,gnomAD
rs768260912	p.Asp377Tyr	missense variant	-	NC_000023.11:g.64192158C>A	ExAC,gnomAD
rs754922124	p.Glu380Lys	missense variant	-	NC_000023.11:g.64192149C>T	1000Genomes,ExAC,gnomAD
rs1172277012	p.Glu382Ala	missense variant	-	NC_000023.11:g.64192142T>G	TOPMed
rs749911156	p.Glu383Asp	missense variant	-	NC_000023.11:g.64192138T>A	ExAC,TOPMed,gnomAD
rs1316636335	p.Glu383Gln	missense variant	-	NC_000023.11:g.64192140C>G	gnomAD
rs778443722	p.Glu384Asp	missense variant	-	NC_000023.11:g.64192135C>G	ExAC,TOPMed,gnomAD
rs368719613	p.Glu385Gln	missense variant	-	NC_000023.11:g.64192134C>G	ESP,ExAC,TOPMed,gnomAD
rs765627552	p.Val388Met	missense variant	-	NC_000023.11:g.64192125C>T	ExAC,TOPMed,gnomAD
rs759765512	p.Leu390Ser	missense variant	-	NC_000023.11:g.64192118A>G	ExAC,gnomAD
rs188801666	p.Glu394Gly	missense variant	-	NC_000023.11:g.64192106T>C	1000Genomes
rs766550265	p.Glu395Asp	missense variant	-	NC_000023.11:g.64192102C>G	ExAC,TOPMed,gnomAD
rs760770029	p.Val397Phe	missense variant	-	NC_000023.11:g.64192098C>A	ExAC,TOPMed,gnomAD
rs772039801	p.Glu400Lys	missense variant	-	NC_000023.11:g.64192089C>T	ExAC,gnomAD
rs765850746	p.Glu401Gly	missense variant	-	NC_000023.11:g.64192085T>C	1000Genomes,ExAC,TOPMed
rs755635008	p.Asp403Gly	missense variant	-	NC_000023.11:g.64192079T>C	1000Genomes,ExAC,gnomAD
rs768509696	p.Asp404His	missense variant	-	NC_000023.11:g.64192077C>G	ExAC,gnomAD
rs1486339845	p.Leu409Gln	missense variant	-	NC_000023.11:g.64192061A>T	TOPMed
rs1434752067	p.Glu411Lys	missense variant	-	NC_000023.11:g.64192056C>T	gnomAD
rs750083174	p.Ala413Val	missense variant	-	NC_000023.11:g.64192049G>A	1000Genomes,ExAC,gnomAD
rs1277413519	p.Ala413Thr	missense variant	-	NC_000023.11:g.64192050C>T	TOPMed,gnomAD
rs769518623	p.Gln414His	missense variant	-	NC_000023.11:g.64192045T>A	ExAC,TOPMed,gnomAD
rs1486153175	p.Met415Val	missense variant	-	NC_000023.11:g.64192044T>C	TOPMed
RCV000255128	p.Met415Ter	frameshift	-	NC_000023.11:g.64192034_64192050del	ClinVar
rs1460320166	p.Tyr416Cys	missense variant	-	NC_000023.11:g.64192040T>C	gnomAD
rs745417672	p.Pro417Thr	missense variant	-	NC_000023.11:g.64192038G>T	ExAC,gnomAD
RCV000612754	p.Arg418Trp	missense variant	-	NC_000023.11:g.64192035G>A	ClinVar
rs372775016	p.Arg418Trp	missense variant	-	NC_000023.11:g.64192035G>A	ESP,ExAC,TOPMed,gnomAD
rs758890390	p.Arg418Gln	missense variant	-	NC_000023.11:g.64192034C>T	ExAC,TOPMed,gnomAD
rs1453619835	p.Pro419Ser	missense variant	-	NC_000023.11:g.64192032G>A	TOPMed
rs1341891064	p.Asn420Ser	missense variant	-	NC_000023.11:g.64192028T>C	gnomAD
RCV000030705	p.Leu423Ter	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192021del	ClinVar
rs1003241107	p.Gly424Asp	missense variant	-	NC_000023.11:g.64192016C>T	TOPMed
rs201965033	p.Thr428Ile	missense variant	-	NC_000023.11:g.64192004G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755403379	p.Pro431Leu	missense variant	-	NC_000023.11:g.64191995G>A	ExAC,gnomAD
rs1395933177	p.Pro431Ser	missense variant	-	NC_000023.11:g.64191996G>A	TOPMed
rs754155510	p.Gly432Val	missense variant	-	NC_000023.11:g.64191992C>A	ExAC,gnomAD
rs766638131	p.His433Pro	missense variant	-	NC_000023.11:g.64191989T>G	ExAC,TOPMed,gnomAD
rs756299099	p.His434Tyr	missense variant	-	NC_000023.11:g.64191987G>A	ExAC
rs1309347591	p.Gly435Asp	missense variant	-	NC_000023.11:g.64191983C>T	gnomAD
rs767572122	p.Gly435Ser	missense variant	-	NC_000023.11:g.64191984C>T	ExAC,TOPMed,gnomAD
rs774349963	p.Met437Val	missense variant	-	NC_000023.11:g.64191978T>C	ExAC,gnomAD
rs763896843	p.Leu438Phe	missense variant	-	NC_000023.11:g.64191975G>A	ExAC,gnomAD
rs1306045176	p.Asp440Asn	missense variant	-	NC_000023.11:g.64191969C>T	gnomAD
rs368249962	p.Arg443Ser	missense variant	-	NC_000023.11:g.64191958C>A	ESP,ExAC,TOPMed,gnomAD
rs1367502273	p.Tyr445Phe	missense variant	-	NC_000023.11:g.64191953T>A	gnomAD
rs1050530502	p.Pro446Arg	missense variant	-	NC_000023.11:g.64191950G>C	TOPMed,gnomAD
rs769608759	p.Gly447Val	missense variant	-	NC_000023.11:g.64191947C>A	ExAC,gnomAD
rs775399750	p.Gly447Arg	missense variant	-	NC_000023.11:g.64191948C>G	ExAC,TOPMed,gnomAD
rs769608759	p.Gly447Asp	missense variant	-	NC_000023.11:g.64191947C>T	ExAC,gnomAD
rs141789259	p.Leu448Pro	missense variant	-	NC_000023.11:g.64191944A>G	ESP,ExAC,TOPMed,gnomAD
rs745507104	p.Leu448Ile	missense variant	-	NC_000023.11:g.64191945G>T	ExAC,gnomAD
rs770483231	p.Ala449Gly	missense variant	-	NC_000023.11:g.64191941G>C	ExAC,TOPMed,gnomAD
RCV000523724	p.Pro450Ter	frameshift	-	NC_000023.11:g.64191940_64191943dup	ClinVar
rs111632683	p.Gly451Arg	missense variant	-	NC_000023.11:g.64191936C>T	TOPMed,gnomAD
rs1424300049	p.Leu453Val	missense variant	-	NC_000023.11:g.64191930G>C	gnomAD
rs755420795	p.Thr455Ser	missense variant	-	NC_000023.11:g.64191923G>C	ExAC,gnomAD
rs1249739984	p.Pro456Leu	missense variant	-	NC_000023.11:g.64191920G>A	gnomAD
rs780393025	p.Gln457Pro	missense variant	-	NC_000023.11:g.64191917T>G	ExAC,gnomAD
rs756387100	p.Ser458Arg	missense variant	-	NC_000023.11:g.64191913A>C	ExAC
rs1486120029	p.Gln461Glu	missense variant	-	NC_000023.11:g.64191906G>C	gnomAD
rs1282807993	p.Glu462Asp	missense variant	-	NC_000023.11:g.64191901T>G	gnomAD
rs767567473	p.Ala464Thr	missense variant	-	NC_000023.11:g.64191897C>T	ExAC,TOPMed,gnomAD
rs1308295407	p.Asn466His	missense variant	-	NC_000023.11:g.64191891T>G	gnomAD
rs1349239165	p.Asp473His	missense variant	-	NC_000023.11:g.64191870C>G	gnomAD
rs751544083	p.Gly478Val	missense variant	-	NC_000023.11:g.64191854C>A	ExAC,gnomAD
rs764138137	p.Asp481Asn	missense variant	-	NC_000023.11:g.64191846C>T	ExAC,gnomAD
rs1309773839	p.Gly488Glu	missense variant	-	NC_000023.11:g.64191824C>T	gnomAD
rs1464297548	p.Val490Leu	missense variant	-	NC_000023.11:g.64191819C>G	TOPMed,gnomAD
rs775489804	p.Arg491Cys	missense variant	-	NC_000023.11:g.64191816G>A	ExAC,gnomAD
rs370645786	p.Arg491His	missense variant	-	NC_000023.11:g.64191815C>T	ESP,ExAC,TOPMed,gnomAD
rs759341836	p.Arg492Met	missense variant	-	NC_000023.11:g.64191812C>A	ExAC,gnomAD
rs765618758	p.Asp493Val	missense variant	-	NC_000023.11:g.64191809T>A	1000Genomes,ExAC,gnomAD
rs776457771	p.Asp493Asn	missense variant	-	NC_000023.11:g.64191810C>T	ExAC,gnomAD
rs1259792397	p.Arg497Gln	missense variant	-	NC_000023.11:g.64191797C>T	gnomAD
rs772566724	p.Ala504Val	missense variant	-	NC_000023.11:g.64191776G>A	ExAC,TOPMed,gnomAD
rs780483016	p.Glu507Gly	missense variant	-	NC_000023.11:g.64191767T>C	ExAC,gnomAD
rs1288332581	p.Phe508Leu	missense variant	-	NC_000023.11:g.64191763G>T	gnomAD
rs377478912	p.Glu510Asp	missense variant	-	NC_000023.11:g.64191757C>G	ESP,ExAC,TOPMed,gnomAD
rs1314383467	p.Asp513Gly	missense variant	-	NC_000023.11:g.64191749T>C	gnomAD
rs757398465	p.Asn517Ser	missense variant	-	NC_000023.11:g.64191737T>C	ExAC,gnomAD
rs777705870	p.Gly521Glu	missense variant	-	NC_000023.11:g.64191725C>T	ExAC,gnomAD
rs758465866	p.Cys524Arg	missense variant	-	NC_000023.11:g.64191717A>G	ExAC,TOPMed,gnomAD
rs1386291582	p.Cys524Tyr	missense variant	-	NC_000023.11:g.64191716C>T	gnomAD
rs752691441	p.Leu525Phe	missense variant	-	NC_000023.11:g.64191714G>A	ExAC,gnomAD
rs1157097245	p.His529Arg	missense variant	-	NC_000023.11:g.64191701T>C	TOPMed
rs904761868	p.Arg531Gln	missense variant	-	NC_000023.11:g.64191695C>T	gnomAD
rs1407306522	p.Glu534Gln	missense variant	-	NC_000023.11:g.64191687C>G	TOPMed
rs931047744	p.Met535Val	missense variant	-	NC_000023.11:g.64191684T>C	TOPMed,gnomAD
rs753556995	p.Met535Ile	missense variant	-	NC_000023.11:g.64191682C>G	ExAC
rs145468055	p.Met535Lys	missense variant	-	NC_000023.11:g.64191683A>T	ESP,ExAC,TOPMed,gnomAD
rs772837332	p.Pro544Ser	missense variant	-	NC_000023.11:g.64191657G>A	ExAC,TOPMed,gnomAD
rs771498491	p.Leu546Trp	missense variant	-	NC_000023.11:g.64191650A>C	ExAC,gnomAD
rs1373726900	p.Leu546Val	missense variant	-	NC_000023.11:g.64191651A>C	TOPMed
rs199759487	p.Ser548Ala	missense variant	-	NC_000023.11:g.64191645A>C	1000Genomes,ExAC,gnomAD
rs746279756	p.Arg549Trp	missense variant	-	NC_000023.11:g.64191642G>A	ExAC,gnomAD
rs937173075	p.Arg549Gln	missense variant	-	NC_000023.11:g.64191641C>T	TOPMed,gnomAD
rs1278635563	p.Pro550Thr	missense variant	-	NC_000023.11:g.64191639G>T	TOPMed
rs1373382264	p.Pro551Leu	missense variant	-	NC_000023.11:g.64191635G>A	TOPMed
rs143103708	p.Pro551Ala	missense variant	-	NC_000023.11:g.64191636G>C	ESP,gnomAD
rs1436928166	p.Gly552Trp	missense variant	-	NC_000023.11:g.64191633C>A	gnomAD
rs781376367	p.Met554Thr	missense variant	-	NC_000023.11:g.64191626A>G	ExAC,TOPMed,gnomAD
rs1319754136	p.Glu558Lys	missense variant	-	NC_000023.11:g.64191615C>T	gnomAD
rs200798538	p.Arg560Trp	missense variant	-	NC_000023.11:g.64191609G>A	ExAC,gnomAD
rs758585592	p.Arg560Gln	missense variant	-	NC_000023.11:g.64191608C>T	ExAC,TOPMed,gnomAD
rs752777393	p.Val562Met	missense variant	-	NC_000023.11:g.64191603C>T	ExAC,gnomAD
rs779046656	p.Leu569Met	missense variant	-	NC_000023.11:g.64191582A>T	ExAC,TOPMed,gnomAD
RCV000119998	p.Arg574Gln	missense variant	-	NC_000023.11:g.64191566C>T	ClinVar
rs587778025	p.Arg574Gln	missense variant	-	NC_000023.11:g.64191566C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754938624	p.Arg574Trp	missense variant	-	NC_000023.11:g.64191567G>A	ExAC,TOPMed,gnomAD
rs373710390	p.Arg575Gln	missense variant	-	NC_000023.11:g.64191563C>T	ESP,ExAC,TOPMed,gnomAD
rs1207495584	p.Ala580Thr	missense variant	-	NC_000023.11:g.64191549C>T	gnomAD
rs370276785	p.Arg584Cys	missense variant	-	NC_000023.11:g.64191537G>A	ESP,ExAC,TOPMed,gnomAD
rs773828754	p.Arg584His	missense variant	-	NC_000023.11:g.64191536C>T	ExAC,TOPMed,gnomAD
rs770324959	p.Ala585Val	missense variant	-	NC_000023.11:g.64191533G>A	ExAC,gnomAD
rs1179031603	p.Arg586Gln	missense variant	-	NC_000023.11:g.64191530C>T	TOPMed
rs760028378	p.Arg586Gly	missense variant	-	NC_000023.11:g.64191531G>C	ExAC,gnomAD
rs777108199	p.His589Tyr	missense variant	-	NC_000023.11:g.64191522G>A	ExAC,TOPMed,gnomAD
rs1332742060	p.Arg591Lys	missense variant	-	NC_000023.11:g.64191515C>T	gnomAD
rs1321518379	p.Glu592Asp	missense variant	-	NC_000023.11:g.64191511C>G	gnomAD
rs771210621	p.Ala593Thr	missense variant	-	NC_000023.11:g.64191510C>T	ExAC,TOPMed,gnomAD
rs771210621	p.Ala593Ser	missense variant	-	NC_000023.11:g.64191510C>A	ExAC,TOPMed,gnomAD
rs773332902	p.His594Gln	missense variant	-	NC_000023.11:g.64191505G>T	ExAC,TOPMed,gnomAD
rs149055969	p.Ala595Thr	missense variant	-	NC_000023.11:g.64191504C>T	ESP,ExAC,gnomAD
RCV000119991	p.Tyr599Cys	missense variant	-	NC_000023.11:g.64191491T>C	ClinVar
rs144896730	p.Tyr599Cys	missense variant	-	NC_000023.11:g.64191491T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779133193	p.Thr600Ser	missense variant	-	NC_000023.11:g.64191488G>C	ExAC,TOPMed,gnomAD
rs779133193	p.Thr600Ile	missense variant	-	NC_000023.11:g.64191488G>A	ExAC,TOPMed,gnomAD
rs149865410	p.Arg601Gln	missense variant	-	NC_000023.11:g.64191485C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779976787	p.Ala603Thr	missense variant	-	NC_000023.11:g.64191480C>T	ExAC,gnomAD
rs779976787	p.Ala603Ser	missense variant	-	NC_000023.11:g.64191480C>A	ExAC,gnomAD
RCV000119992	p.Tyr604Cys	missense variant	-	NC_000023.11:g.64191476T>C	ClinVar
rs587778023	p.Tyr604Cys	missense variant	-	NC_000023.11:g.64191476T>C	-
rs957383245	p.Gly605Val	missense variant	-	NC_000023.11:g.64191473C>A	TOPMed
rs1198818173	p.Arg606Lys	missense variant	-	NC_000023.11:g.64191470C>T	gnomAD
rs1450490839	p.Glu607Lys	missense variant	-	NC_000023.11:g.64191468C>T	gnomAD
rs1251883762	p.Glu607Gly	missense variant	-	NC_000023.11:g.64191467T>C	gnomAD
rs755894661	p.Ala608Asp	missense variant	-	NC_000023.11:g.64191464G>T	ExAC,TOPMed,gnomAD
rs755894661	p.Ala608Val	missense variant	-	NC_000023.11:g.64191464G>A	ExAC,TOPMed,gnomAD
rs1233790837	p.Ala610Val	missense variant	-	NC_000023.11:g.64191458G>A	TOPMed
rs1233790837	p.Ala610Gly	missense variant	-	NC_000023.11:g.64191458G>C	TOPMed
rs1273547541	p.Arg611Lys	missense variant	-	NC_000023.11:g.64191455C>T	gnomAD
rs748406545	p.Ala613Asp	missense variant	-	NC_000023.11:g.64191449G>T	1000Genomes,ExAC,gnomAD
rs1295086973	p.His614Gln	missense variant	-	NC_000023.11:g.64191445G>T	TOPMed
rs767204320	p.Thr615Asn	missense variant	-	NC_000023.11:g.64191443G>T	ExAC,gnomAD
rs756872620	p.Glu617Lys	missense variant	-	NC_000023.11:g.64191438C>T	ExAC,gnomAD
rs751132452	p.Glu617Gly	missense variant	-	NC_000023.11:g.64191437T>C	ExAC,gnomAD
rs763577174	p.Gly620Asp	missense variant	-	NC_000023.11:g.64191428C>T	ExAC,gnomAD
RCV000119993	p.Thr625Ala	missense variant	-	NC_000023.11:g.64191414T>C	ClinVar
rs142654101	p.Thr625Ala	missense variant	-	NC_000023.11:g.64191414T>C	ESP,ExAC,TOPMed,gnomAD
rs1370170733	p.Arg626Gln	missense variant	-	NC_000023.11:g.64191410C>T	TOPMed,gnomAD
rs1408150272	p.Arg626Ter	stop gained	-	NC_000023.11:g.64191411G>A	gnomAD
rs1313722059	p.Ala628Ser	missense variant	-	NC_000023.11:g.64191405C>A	gnomAD
rs766863778	p.Gln629Arg	missense variant	-	NC_000023.11:g.64191401T>C	ExAC,TOPMed,gnomAD
rs1400545943	p.Gln629Glu	missense variant	-	NC_000023.11:g.64191402G>C	gnomAD
rs773684332	p.Arg631Pro	missense variant	-	NC_000023.11:g.64191395C>G	ExAC,TOPMed,gnomAD
rs773684332	p.Arg631Gln	missense variant	-	NC_000023.11:g.64191395C>T	ExAC,TOPMed,gnomAD
rs772493411	p.Val633Phe	missense variant	-	NC_000023.11:g.64191390C>A	ExAC,gnomAD
rs748367933	p.Val633Gly	missense variant	-	NC_000023.11:g.64191389A>C	ExAC,gnomAD
rs778813513	p.Arg634His	missense variant	-	NC_000023.11:g.64191386C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768862604	p.Cys635Tyr	missense variant	-	NC_000023.11:g.64191383C>T	ExAC,gnomAD
RCV000627001	p.Glu637Ter	frameshift	Macrocephalus	NC_000023.11:g.64191376_64191377CT[2]	ClinVar
rs779876963	p.Gln639Arg	missense variant	-	NC_000023.11:g.64191371T>C	ExAC
rs1329771600	p.Arg641Gln	missense variant	-	NC_000023.11:g.64191365C>T	TOPMed,gnomAD
rs1290201140	p.Gln644Glu	missense variant	-	NC_000023.11:g.64191357G>C	TOPMed,gnomAD
rs756054269	p.Gln644Leu	missense variant	-	NC_000023.11:g.64191356T>A	ExAC,gnomAD
rs768580323	p.Ala645Asp	missense variant	-	NC_000023.11:g.64191353G>T	1000Genomes,ExAC,gnomAD
rs147754688	p.Arg646Pro	missense variant	-	NC_000023.11:g.64191350C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775711054	p.Arg646Trp	missense variant	-	NC_000023.11:g.64191351G>A	ExAC,TOPMed,gnomAD
rs147754688	p.Arg646Gln	missense variant	-	NC_000023.11:g.64191350C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147754688	p.Arg646Leu	missense variant	-	NC_000023.11:g.64191350C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779918121	p.Gln647Arg	missense variant	-	NC_000023.11:g.64191347T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1401714549	p.Pro650His	missense variant	-	NC_000023.11:g.64191338G>T	gnomAD
RCV000120000	p.Val651Ile	missense variant	-	NC_000023.11:g.64191336C>T	ClinVar
rs587778026	p.Val651Ile	missense variant	-	NC_000023.11:g.64191336C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1455147390	p.Val651Ala	missense variant	-	NC_000023.11:g.64191335A>G	gnomAD
rs773774270	p.Pro658Leu	missense variant	-	NC_000023.11:g.64191314G>A	ExAC,gnomAD
rs768008290	p.Gly660Ser	missense variant	-	NC_000023.11:g.64191309C>T	ExAC,gnomAD
rs904653038	p.Pro661Leu	missense variant	-	NC_000023.11:g.64191305G>A	TOPMed
rs1465193477	p.Met664Ile	missense variant	-	NC_000023.11:g.64191295C>T	gnomAD
rs774747000	p.Leu666Pro	missense variant	-	NC_000023.11:g.64191290A>G	ExAC,gnomAD
rs1206766799	p.Gly669Glu	missense variant	-	NC_000023.11:g.64191281C>T	gnomAD
rs1226685472	p.Val670Leu	missense variant	-	NC_000023.11:g.64191279C>A	TOPMed
rs587778027	p.Gly672Glu	missense variant	-	NC_000023.11:g.64191272C>T	TOPMed,gnomAD
RCV000120001	p.Gly672Glu	missense variant	-	NC_000023.11:g.64191272C>T	ClinVar
rs769686123	p.Ser674Cys	missense variant	-	NC_000023.11:g.64191266G>C	ExAC,gnomAD
rs769686123	p.Ser674Tyr	missense variant	-	NC_000023.11:g.64191266G>T	ExAC,gnomAD
rs201053898	p.Ser677Pro	missense variant	-	NC_000023.11:g.64191258A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs777453882	p.Arg679Gln	missense variant	-	NC_000023.11:g.64191251C>T	ExAC,gnomAD
rs41307359	p.Arg679Trp	missense variant	-	NC_000023.11:g.64191252G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1211707591	p.Gly680Arg	missense variant	-	NC_000023.11:g.64191249C>T	TOPMed
rs898205115	p.Ile681Val	missense variant	-	NC_000023.11:g.64191246T>C	TOPMed
rs1395903458	p.Thr688Ile	missense variant	-	NC_000023.11:g.64191224G>A	gnomAD
rs756860796	p.Ala689Ser	missense variant	-	NC_000023.11:g.64191222C>A	1000Genomes,ExAC,gnomAD
rs1406658299	p.Ser691Asn	missense variant	-	NC_000023.11:g.64191215C>T	gnomAD
rs759613339	p.Glu692Lys	missense variant	-	NC_000023.11:g.64191213C>T	ExAC,TOPMed,gnomAD
rs759613339	p.Glu692Gln	missense variant	-	NC_000023.11:g.64191213C>G	ExAC,TOPMed,gnomAD
rs1249641553	p.Arg696Trp	missense variant	-	NC_000023.11:g.64191201T>A	gnomAD
rs928446095	p.Asp697Gly	missense variant	-	NC_000023.11:g.64191197T>C	TOPMed,gnomAD
rs1464385859	p.Arg699Cys	missense variant	-	NC_000023.11:g.64191192G>A	gnomAD
rs750971248	p.Arg699His	missense variant	-	NC_000023.11:g.64191191C>T	ExAC,TOPMed,gnomAD
rs1223791858	p.Glu702Lys	missense variant	-	NC_000023.11:g.64191183C>T	gnomAD
rs768098639	p.Arg704His	missense variant	-	NC_000023.11:g.64191176C>T	ExAC,TOPMed,gnomAD
rs1174971100	p.Arg704Cys	missense variant	-	NC_000023.11:g.64191177G>A	TOPMed
rs764261510	p.Thr708Asn	missense variant	-	NC_000023.11:g.64191164G>T	ExAC,TOPMed,gnomAD
rs764261510	p.Thr708Ser	missense variant	-	NC_000023.11:g.64191164G>C	ExAC,TOPMed,gnomAD
rs775490931	p.Asp713Glu	missense variant	-	NC_000023.11:g.64191148A>T	ExAC,gnomAD
rs751217981	p.Cys717Tyr	missense variant	-	NC_000023.11:g.64191137C>T	1000Genomes,ExAC,gnomAD
RCV000120002	p.Met719Ile	missense variant	-	NC_000023.11:g.64191130C>T	ClinVar
rs142355260	p.Met719Ile	missense variant	-	NC_000023.11:g.64191130C>T	ESP,ExAC,TOPMed,gnomAD
rs770803269	p.Gln720His	missense variant	-	NC_000023.11:g.64191127C>G	ExAC,gnomAD
rs776578776	p.Gln720Glu	missense variant	-	NC_000023.11:g.64191129G>C	ExAC,gnomAD
rs746848263	p.Phe722Leu	missense variant	-	NC_000023.11:g.64191121G>T	ExAC
rs981699309	p.Ser724Thr	missense variant	-	NC_000023.11:g.64191116C>G	TOPMed
rs1347636416	p.Ser724Arg	missense variant	-	NC_000023.11:g.64191117T>G	gnomAD
rs369699027	p.Asp725Glu	missense variant	-	NC_000023.11:g.64191112A>C	ESP,ExAC,TOPMed,gnomAD
rs771682818	p.Glu729Gln	missense variant	-	NC_000023.11:g.64191102C>G	ExAC,gnomAD
rs778362977	p.Gln733Arg	missense variant	-	NC_000023.11:g.64191089T>C	ExAC,gnomAD
rs1391706502	p.Gln733Glu	missense variant	-	NC_000023.11:g.64191090G>C	gnomAD
rs1391706502	p.Gln733Lys	missense variant	-	NC_000023.11:g.64191090G>T	gnomAD
rs376200415	p.Ala735Val	missense variant	-	NC_000023.11:g.64191083G>A	ESP,ExAC,TOPMed,gnomAD
rs1192878898	p.Asn736Asp	missense variant	-	NC_000023.11:g.64191081T>C	gnomAD
rs1246533879	p.Gly738Ala	missense variant	-	NC_000023.11:g.64191074C>G	gnomAD
rs1487516768	p.Gly739Arg	missense variant	-	NC_000023.11:g.64191072C>T	gnomAD
rs913123410	p.Ser740Cys	missense variant	-	NC_000023.11:g.64191068G>C	TOPMed
rs781777369	p.Pro741Ser	missense variant	-	NC_000023.11:g.64191066G>A	ExAC,gnomAD
rs189503587	p.Ala744Val	missense variant	-	NC_000023.11:g.64191056G>A	1000Genomes,ExAC
rs764505956	p.Thr747Ile	missense variant	-	NC_000023.11:g.64191047G>A	ExAC,TOPMed,gnomAD
rs372996310	p.Ser749Pro	missense variant	-	NC_000023.11:g.64191042A>G	ESP,ExAC,gnomAD
rs148731565	p.Pro750Ser	missense variant	-	NC_000023.11:g.64191039G>A	ESP,ExAC,TOPMed,gnomAD
rs1303991079	p.Pro750Leu	missense variant	-	NC_000023.11:g.64191038G>A	gnomAD
rs148731565	p.Pro750Thr	missense variant	-	NC_000023.11:g.64191039G>T	ESP,ExAC,TOPMed,gnomAD
rs765334366	p.Pro751Ser	missense variant	-	NC_000023.11:g.64191036G>A	ExAC,TOPMed,gnomAD
rs765334366	p.Pro751Ala	missense variant	-	NC_000023.11:g.64191036G>C	ExAC,TOPMed,gnomAD
rs1409968711	p.Asp753Val	missense variant	-	NC_000023.11:g.64191029T>A	gnomAD
rs759631856	p.Asp753Tyr	missense variant	-	NC_000023.11:g.64191030C>A	ExAC,gnomAD
rs776663048	p.Glu755Asp	missense variant	-	NC_000023.11:g.64191022C>G	ExAC,gnomAD
RCV000485395	p.Glu756Ter	frameshift	-	NC_000023.11:g.64191022del	ClinVar
rs1305806833	p.Glu757Val	missense variant	-	NC_000023.11:g.64191017T>A	gnomAD
rs369264970	p.Val759Ile	missense variant	-	NC_000023.11:g.64191012C>T	ESP,ExAC,gnomAD
rs760596448	p.Gly763Arg	missense variant	-	NC_000023.11:g.64191000C>T	ExAC,gnomAD
rs754366188	p.Val767Met	missense variant	-	NC_000023.11:g.64190988C>T	1000Genomes,ExAC,gnomAD
rs1466483272	p.Ala772Val	missense variant	-	NC_000023.11:g.64190972G>A	TOPMed
rs1424452703	p.Val774Ile	missense variant	-	NC_000023.11:g.64190967C>T	gnomAD
rs747857905	p.Glu775Gln	missense variant	-	NC_000023.11:g.64190964C>G	ExAC,gnomAD
rs774076618	p.Asn779Ser	missense variant	-	NC_000023.11:g.64190951T>C	ExAC,TOPMed,gnomAD
rs1483729468	p.Asn781Ser	missense variant	-	NC_000023.11:g.64190945T>C	gnomAD
rs144246257	p.Asn781Lys	missense variant	-	NC_000023.11:g.64190944G>T	ESP,ExAC,TOPMed,gnomAD
rs779704496	p.Leu782Pro	missense variant	-	NC_000023.11:g.64190942A>G	ExAC
rs1208549751	p.Met786Thr	missense variant	-	NC_000023.11:g.64190930A>G	gnomAD
rs747564770	p.Ser787Phe	missense variant	-	NC_000023.11:g.64190927G>A	ExAC,gnomAD
rs1269339307	p.Cys788Tyr	missense variant	-	NC_000023.11:g.64190924C>T	gnomAD
rs1266270293	p.Ser790Phe	missense variant	-	NC_000023.11:g.64190918G>A	gnomAD
rs1351835013	p.Ser792Thr	missense variant	-	NC_000023.11:g.64190913A>T	gnomAD
rs374879781	p.Ala812Thr	missense variant	-	NC_000023.11:g.64190853C>T	ESP,ExAC,TOPMed,gnomAD
rs374879781	p.Ala812Ser	missense variant	-	NC_000023.11:g.64190853C>A	ESP,ExAC,TOPMed,gnomAD
rs765543269	p.Arg816Trp	missense variant	-	NC_000023.11:g.64190841G>A	ExAC,gnomAD
rs753979230	p.Asp817Gly	missense variant	-	NC_000023.11:g.64190837T>C	ExAC,gnomAD
rs753979230	p.Asp817Val	missense variant	-	NC_000023.11:g.64190837T>A	ExAC,gnomAD
rs1220943330	p.Asp817His	missense variant	-	NC_000023.11:g.64190838C>G	gnomAD
rs1464406212	p.Gly818Glu	missense variant	-	NC_000023.11:g.64190834C>T	gnomAD
rs978809037	p.Gly820Arg	missense variant	-	NC_000023.11:g.64190829C>G	TOPMed
rs371470486	p.Cys822Phe	missense variant	-	NC_000023.11:g.64190822C>A	ESP,ExAC,gnomAD
rs1303713983	p.Glu827Ala	missense variant	-	NC_000023.11:g.64190807T>G	TOPMed
rs1334005803	p.His829Gln	missense variant	-	NC_000023.11:g.64190800G>T	TOPMed
rs1458851862	p.His829Arg	missense variant	-	NC_000023.11:g.64190801T>C	gnomAD
rs767309942	p.Asn830Asp	missense variant	-	NC_000023.11:g.64190799T>C	ExAC,TOPMed,gnomAD
rs767309942	p.Asn830Tyr	missense variant	-	NC_000023.11:g.64190799T>A	ExAC,TOPMed,gnomAD
rs1181603022	p.Asp831Asn	missense variant	-	NC_000023.11:g.64190796C>T	gnomAD
rs1424612359	p.Asp833Asn	missense variant	-	NC_000023.11:g.64190790C>T	gnomAD
rs200219038	p.Ala835Pro	missense variant	-	NC_000023.11:g.64190784C>G	ExAC,TOPMed,gnomAD
rs773987432	p.Ala840Thr	missense variant	-	NC_000023.11:g.64190769C>T	ExAC,gnomAD
rs549157600	p.Tyr846Cys	missense variant	-	NC_000023.11:g.64190750T>C	ExAC,TOPMed,gnomAD
rs1327757187	p.Phe851Ser	missense variant	-	NC_000023.11:g.64190735A>G	gnomAD
rs200204006	p.Asn853Ser	missense variant	-	NC_000023.11:g.64190729T>C	1000Genomes,ExAC,gnomAD
rs1237782051	p.His855Arg	missense variant	-	NC_000023.11:g.64190723T>C	gnomAD
rs1314447711	p.Ser856Asn	missense variant	-	NC_000023.11:g.64190720C>T	gnomAD
rs778363299	p.Ser856Gly	missense variant	-	NC_000023.11:g.64190721T>C	ExAC,gnomAD
rs1394000391	p.Arg857Ter	stop gained	-	NC_000023.11:g.64190718G>A	gnomAD
rs758807218	p.Arg857Gln	missense variant	-	NC_000023.11:g.64190717C>T	ExAC,TOPMed,gnomAD
rs755281117	p.Arg871Gln	missense variant	-	NC_000023.11:g.64190675C>T	ExAC,TOPMed,gnomAD
rs1162990577	p.Gly877Ser	missense variant	-	NC_000023.11:g.64190658C>T	TOPMed,gnomAD
rs185526526	p.Pro880Ser	missense variant	-	NC_000023.11:g.64190649G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750449400	p.Arg881Ter	stop gained	-	NC_000023.11:g.64190646G>A	ExAC,gnomAD
rs372769953	p.Arg881Gln	missense variant	-	NC_000023.11:g.64190645C>T	ESP,ExAC,TOPMed,gnomAD
rs372769953	p.Arg881Leu	missense variant	-	NC_000023.11:g.64190645C>A	ESP,ExAC,TOPMed,gnomAD
rs751427137	p.Pro882Leu	missense variant	-	NC_000023.11:g.64190642G>A	ExAC,gnomAD
rs763992808	p.Pro883Ser	missense variant	-	NC_000023.11:g.64190640G>A	ExAC,gnomAD
RCV000441623	p.Pro884Leu	missense variant	-	NC_000023.11:g.64190636G>A	ClinVar
rs775309548	p.Pro884Ala	missense variant	-	NC_000023.11:g.64190637G>C	ExAC,gnomAD
rs775309548	p.Pro884Ser	missense variant	-	NC_000023.11:g.64190637G>A	ExAC,gnomAD
rs201092215	p.Pro884Leu	missense variant	-	NC_000023.11:g.64190636G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1295447474	p.Met887Val	missense variant	-	NC_000023.11:g.64190628T>C	TOPMed
rs759131609	p.Ala888Val	missense variant	-	NC_000023.11:g.64190624G>A	ExAC,TOPMed,gnomAD
rs1230411654	p.Leu889Phe	missense variant	-	NC_000023.11:g.64190622G>A	gnomAD
rs775971337	p.Asn890Lys	missense variant	-	NC_000023.11:g.64190617G>C	ExAC,TOPMed,gnomAD
rs772696260	p.Arg892Lys	missense variant	-	NC_000023.11:g.64190612C>T	ExAC,gnomAD
rs748618414	p.Arg894Cys	missense variant	-	NC_000023.11:g.64190607G>A	ExAC,TOPMed,gnomAD
rs779325879	p.Arg894His	missense variant	-	NC_000023.11:g.64190606C>T	ExAC,TOPMed,gnomAD
rs779325879	p.Arg894Leu	missense variant	-	NC_000023.11:g.64190606C>A	ExAC,TOPMed,gnomAD
rs749609920	p.Asp897Asn	missense variant	-	NC_000023.11:g.64190598C>T	ExAC,gnomAD
rs1391085816	p.Thr901Ser	missense variant	-	NC_000023.11:g.64190586T>A	gnomAD
rs1170858720	p.Ser907Thr	missense variant	-	NC_000023.11:g.64190568A>T	gnomAD
rs1372940225	p.Ser909Tyr	missense variant	-	NC_000023.11:g.64190561G>T	gnomAD
rs750585107	p.Gly914Asp	missense variant	-	NC_000023.11:g.64190546C>T	ExAC,gnomAD
rs781115849	p.Leu916Phe	missense variant	-	NC_000023.11:g.64190541G>A	ExAC,gnomAD
rs1490080845	p.Asp919His	missense variant	-	NC_000023.11:g.64190532C>G	gnomAD
rs1196061753	p.Glu930Val	missense variant	-	NC_000023.11:g.64190498T>A	TOPMed
rs762862789	p.Glu931Ala	missense variant	-	NC_000023.11:g.64190495T>G	ExAC,gnomAD
rs945869656	p.Glu933Lys	missense variant	-	NC_000023.11:g.64190490C>T	TOPMed,gnomAD
rs945869656	p.Glu933Ter	stop gained	-	NC_000023.11:g.64190490C>A	TOPMed,gnomAD
rs765020689	p.Glu934Val	missense variant	-	NC_000023.11:g.64190486T>A	ExAC,TOPMed,gnomAD
rs1418501335	p.Glu936Lys	missense variant	-	NC_000023.11:g.64190481C>T	TOPMed
rs759099324	p.Ser941Thr	missense variant	-	NC_000023.11:g.64190465C>G	ExAC,gnomAD
rs368031008	p.Arg942Gln	missense variant	-	NC_000023.11:g.64190462C>T	ESP,ExAC,TOPMed,gnomAD
rs1404477878	p.Arg942Ter	stop gained	-	NC_000023.11:g.64190463G>A	gnomAD
rs770353761	p.Asp943Asn	missense variant	-	NC_000023.11:g.64190460C>T	ExAC,gnomAD
rs201073415	p.Asp943Gly	missense variant	-	NC_000023.11:g.64190459T>C	ExAC,gnomAD
rs1173578961	p.Leu948Phe	missense variant	-	NC_000023.11:g.64190445G>A	gnomAD
rs935906193	p.Tyr949Cys	missense variant	-	NC_000023.11:g.64190441T>C	TOPMed
rs768563880	p.Pro952Thr	missense variant	-	NC_000023.11:g.64190433G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768563880	p.Pro952Ser	missense variant	-	NC_000023.11:g.64190433G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780395189	p.Pro952Leu	missense variant	-	NC_000023.11:g.64190432G>A	ExAC,TOPMed,gnomAD
rs374610712	p.Pro953Ser	missense variant	-	NC_000023.11:g.64190430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370290063	p.Asp957Asn	missense variant	-	NC_000023.11:g.64190418C>T	ESP,ExAC,TOPMed,gnomAD
rs780015689	p.Trp958Cys	missense variant	-	NC_000023.11:g.64190413C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1293850001	p.Pro959Leu	missense variant	-	NC_000023.11:g.64190411G>A	TOPMed
rs1435765495	p.Pro959Thr	missense variant	-	NC_000023.11:g.64190412G>T	gnomAD
rs1307322833	p.Ala960Val	missense variant	-	NC_000023.11:g.64190408G>A	TOPMed
rs1200895018	p.Ala962Gly	missense variant	-	NC_000023.11:g.64190402G>C	gnomAD
rs777905301	p.Ala962Thr	missense variant	-	NC_000023.11:g.64190403C>T	ExAC,TOPMed,gnomAD
rs1254194219	p.Pro963Arg	missense variant	-	NC_000023.11:g.64190399G>C	gnomAD
rs758378585	p.Pro963Ser	missense variant	-	NC_000023.11:g.64190400G>A	ExAC,TOPMed,gnomAD
rs1351220217	p.Cys964Ser	missense variant	-	NC_000023.11:g.64190396C>G	gnomAD
rs376943508	p.Pro965Thr	missense variant	-	NC_000023.11:g.64190394G>T	ESP,ExAC,TOPMed,gnomAD
rs374729339	p.Leu966Pro	missense variant	-	NC_000023.11:g.64190390A>G	ESP,ExAC,TOPMed,gnomAD
rs968815543	p.Pro967Ser	missense variant	-	NC_000023.11:g.64190388G>A	gnomAD
rs968815543	p.Pro967Thr	missense variant	-	NC_000023.11:g.64190388G>T	gnomAD
rs753464604	p.Gly969Trp	missense variant	-	NC_000023.11:g.64190382C>A	ExAC,gnomAD
rs371014578	p.Gly971Ser	missense variant	-	NC_000023.11:g.64190376C>T	ESP,ExAC,gnomAD
rs1176373162	p.Ala973Thr	missense variant	-	NC_000023.11:g.64190370C>T	gnomAD
rs1257686015	p.Trp974Arg	missense variant	-	NC_000023.11:g.64190367A>G	TOPMed
rs772682408	p.Pro977Ser	missense variant	-	NC_000023.11:g.64190358G>A	ExAC,gnomAD
rs1412030993	p.Asn978Ser	missense variant	-	NC_000023.11:g.64190354T>C	gnomAD
rs745847898	p.Gln979Arg	missense variant	-	NC_000023.11:g.64190351T>C	1000Genomes
rs1484186857	p.Asp981Gly	missense variant	-	NC_000023.11:g.64190345T>C	TOPMed
rs867885720	p.Pro983His	missense variant	-	NC_000023.11:g.64190339G>T	TOPMed
rs775915295	p.Ser984Pro	missense variant	-	NC_000023.11:g.64190337A>G	ExAC,gnomAD
rs1187930100	p.Ser985Ile	missense variant	-	NC_000023.11:g.64190333C>A	gnomAD
rs770055483	p.Gln986Arg	missense variant	-	NC_000023.11:g.64190330T>C	ExAC,gnomAD
rs1202984802	p.Pro988Thr	missense variant	-	NC_000023.11:g.64190325G>T	gnomAD
rs746199690	p.Tyr989His	missense variant	-	NC_000023.11:g.64190322A>G	ExAC,gnomAD
rs1350152636	p.Gln991Ter	stop gained	-	NC_000023.11:g.64190316G>A	gnomAD
rs771161982	p.Pro997His	missense variant	-	NC_000023.11:g.64190297G>T	ExAC,gnomAD
rs771161982	p.Pro997Leu	missense variant	-	NC_000023.11:g.64190297G>A	ExAC,gnomAD
rs747124947	p.Met999Val	missense variant	-	NC_000023.11:g.64190292T>C	ExAC,TOPMed,gnomAD
rs777994848	p.Met1001Thr	missense variant	-	NC_000023.11:g.64190285A>G	ExAC,gnomAD
rs866085199	p.Ile1003Val	missense variant	-	NC_000023.11:g.64190280T>C	gnomAD
rs757257940	p.Ile1003Met	missense variant	-	NC_000023.11:g.64190278T>C	ExAC,gnomAD
rs758466072	p.Ile1003Thr	missense variant	-	NC_000023.11:g.64190279A>G	ExAC,gnomAD
rs778870447	p.Ser1004Pro	missense variant	-	NC_000023.11:g.64190277A>G	ExAC,gnomAD
rs1473629829	p.Ser1006Leu	missense variant	-	NC_000023.11:g.64190270G>A	TOPMed,gnomAD
rs1383132790	p.Val1007Ala	missense variant	-	NC_000023.11:g.64190267A>G	gnomAD
rs995009774	p.Pro1008Ser	missense variant	-	NC_000023.11:g.64190265G>A	TOPMed,gnomAD
rs376717602	p.Glu1009Ala	missense variant	-	NC_000023.11:g.64190261T>G	ExAC,TOPMed,gnomAD
rs376717602	p.Glu1009Gly	missense variant	-	NC_000023.11:g.64190261T>C	ExAC,TOPMed,gnomAD
rs1249833969	p.Ala1012Val	missense variant	-	NC_000023.11:g.64190252G>A	gnomAD
rs765991551	p.Pro1013Leu	missense variant	-	NC_000023.11:g.64190249G>A	ExAC,gnomAD
rs959631746	p.Gly1014Glu	missense variant	-	NC_000023.11:g.64190246C>T	TOPMed,gnomAD
rs959631746	p.Gly1014Ala	missense variant	-	NC_000023.11:g.64190246C>G	TOPMed,gnomAD
rs756772667	p.Glu1015Val	missense variant	-	NC_000023.11:g.64190243T>A	1000Genomes,ExAC,gnomAD
rs1230215835	p.Ser1016Phe	missense variant	-	NC_000023.11:g.64190240G>A	gnomAD
rs1357604176	p.Gly1017Trp	missense variant	-	NC_000023.11:g.64190238C>A	TOPMed,gnomAD
rs749995763	p.Gln1019Arg	missense variant	-	NC_000023.11:g.64190231T>C	ExAC,TOPMed,gnomAD
rs1367906109	p.Leu1020Val	missense variant	-	NC_000023.11:g.64190229G>C	gnomAD
rs761242587	p.Arg1022His	missense variant	-	NC_000023.11:g.64190222C>T	ExAC,TOPMed,gnomAD
rs775889522	p.Ser1024Leu	missense variant	-	NC_000023.11:g.64190216G>A	ExAC,gnomAD
rs763827864	p.His1025Asp	missense variant	-	NC_000023.11:g.64190214G>C	ExAC,TOPMed,gnomAD
rs867751090	p.His1027Tyr	missense variant	-	NC_000023.11:g.64190208G>A	TOPMed,gnomAD
rs759866352	p.His1027Gln	missense variant	-	NC_000023.11:g.64190206G>C	ExAC,gnomAD
rs1449850982	p.Leu1028Val	missense variant	-	NC_000023.11:g.64190205G>C	gnomAD
rs201899164	p.Gly1031Asp	missense variant	-	NC_000023.11:g.64190195C>T	ExAC,TOPMed,gnomAD
rs1313482472	p.Pro1032His	missense variant	-	NC_000023.11:g.64190192G>T	TOPMed
rs773502508	p.Asn1035Thr	missense variant	-	NC_000023.11:g.64190183T>G	ExAC,gnomAD
rs772311167	p.Leu1036Pro	missense variant	-	NC_000023.11:g.64190180A>G	ExAC,gnomAD
rs748190147	p.Gln1037Ter	stop gained	-	NC_000023.11:g.64190178G>A	ExAC,gnomAD
rs202079009	p.Gln1039Lys	missense variant	-	NC_000023.11:g.64190172G>T	1000Genomes
rs1344800438	p.Ser1041Phe	missense variant	-	NC_000023.11:g.64190165G>A	TOPMed,gnomAD
rs1206236166	p.Ser1041Thr	missense variant	-	NC_000023.11:g.64190166A>T	TOPMed,gnomAD
rs1206236166	p.Ser1041Pro	missense variant	-	NC_000023.11:g.64190166A>G	TOPMed,gnomAD
rs1486040300	p.Gln1042Lys	missense variant	-	NC_000023.11:g.64190163G>T	TOPMed
rs754917680	p.Ser1043Asn	missense variant	-	NC_000023.11:g.64190159C>T	ExAC,TOPMed,gnomAD
RCV000119994	p.Ser1043Gly	missense variant	-	NC_000023.11:g.64190160T>C	ClinVar
rs373315882	p.Ser1043Gly	missense variant	-	NC_000023.11:g.64190160T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369116388	p.Met1044Leu	missense variant	-	NC_000023.11:g.64190157T>A	ESP,ExAC,TOPMed,gnomAD
rs369116388	p.Met1044Val	missense variant	-	NC_000023.11:g.64190157T>C	ESP,ExAC,TOPMed,gnomAD
rs755847386	p.Arg1045Lys	missense variant	-	NC_000023.11:g.64190153C>T	ExAC,TOPMed
rs755847386	p.Arg1045Thr	missense variant	-	NC_000023.11:g.64190153C>G	ExAC,TOPMed
rs1343180508	p.Pro1048His	missense variant	-	NC_000023.11:g.64190144G>T	gnomAD
rs1258291174	p.Arg1049Gln	missense variant	-	NC_000023.11:g.64190141C>T	TOPMed,gnomAD
rs780779666	p.Arg1049Gly	missense variant	-	NC_000023.11:g.64190142G>C	ExAC,TOPMed,gnomAD
rs780779666	p.Arg1049Ter	stop gained	-	NC_000023.11:g.64190142G>A	ExAC,TOPMed,gnomAD
rs1180199506	p.Asp1050Gly	missense variant	-	NC_000023.11:g.64190138T>C	TOPMed,gnomAD
rs756778843	p.Asp1050Glu	missense variant	-	NC_000023.11:g.64190137A>T	ExAC,gnomAD
rs751054920	p.Val1051Leu	missense variant	-	NC_000023.11:g.64190136C>A	ExAC,TOPMed,gnomAD
rs765703836	p.Val1055Asp	missense variant	-	NC_000023.11:g.64190123A>T	ExAC,gnomAD
rs760083711	p.Pro1058Leu	missense variant	-	NC_000023.11:g.64190114G>A	ExAC,gnomAD
rs754211727	p.Ser1061Thr	missense variant	-	NC_000023.11:g.64190106A>T	ExAC,gnomAD
rs766861490	p.Ser1062Thr	missense variant	-	NC_000023.11:g.64190103A>T	ExAC,gnomAD
rs761082647	p.Ser1064Phe	missense variant	-	NC_000023.11:g.64190096G>A	ExAC,gnomAD
rs1369305295	p.Ser1070Cys	missense variant	-	NC_000023.11:g.64190079T>A	TOPMed
rs773592043	p.Pro1071Arg	missense variant	-	NC_000023.11:g.64190075G>C	ExAC
rs1275105010	p.Leu1072Pro	missense variant	-	NC_000023.11:g.64190072A>G	TOPMed
rs1205869591	p.Pro1073Ser	missense variant	-	NC_000023.11:g.64190070G>A	gnomAD
rs1204348341	p.Ala1075Thr	missense variant	-	NC_000023.11:g.64190064C>T	TOPMed,gnomAD
rs1313285235	p.Ala1075Val	missense variant	-	NC_000023.11:g.64190063G>A	gnomAD
rs1224771478	p.Pro1077Ser	missense variant	-	NC_000023.11:g.64190058G>A	gnomAD
rs1343119078	p.Val1078Leu	missense variant	-	NC_000023.11:g.64190055C>A	gnomAD
rs1410019226	p.His1082Tyr	missense variant	-	NC_000023.11:g.64190043G>A	gnomAD
rs1344004018	p.His1082Arg	missense variant	-	NC_000023.11:g.64190042T>C	gnomAD
rs1375155725	p.Gly1083Val	missense variant	-	NC_000023.11:g.64190039C>A	gnomAD
rs1296222452	p.Gln1086Ter	stop gained	-	NC_000023.11:g.64190031G>A	gnomAD
rs1359607854	p.Pro1088Leu	missense variant	-	NC_000023.11:g.64190024G>A	gnomAD
rs1468255983	p.Arg1089Ser	missense variant	-	NC_000023.11:g.64190020C>A	TOPMed,gnomAD
rs1428662045	p.Val1090Ile	missense variant	-	NC_000023.11:g.64190019C>T	gnomAD
RCV000119997	p.Arg1091Trp	missense variant	-	NC_000023.11:g.64190016G>A	ClinVar
rs761842441	p.Arg1091Gln	missense variant	-	NC_000023.11:g.64190015C>T	ExAC,gnomAD
rs375850061	p.Arg1091Trp	missense variant	-	NC_000023.11:g.64190016G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1176926572	p.Pro1092Ser	missense variant	-	NC_000023.11:g.64190013G>A	TOPMed,gnomAD
rs1483800774	p.Glu1093Asp	missense variant	-	NC_000023.11:g.64190008C>A	gnomAD
rs1314155750	p.Glu1093Lys	missense variant	-	NC_000023.11:g.64190010C>T	gnomAD
rs1239674319	p.Pro1095Leu	missense variant	-	NC_000023.11:g.64190003G>A	gnomAD
rs768536859	p.Pro1097Thr	missense variant	-	NC_000023.11:g.64189998G>T	ExAC,gnomAD
rs768536859	p.Pro1097Ser	missense variant	-	NC_000023.11:g.64189998G>A	ExAC,gnomAD
rs1467890035	p.Gln1098Arg	missense variant	-	NC_000023.11:g.64189994T>C	TOPMed
rs749264086	p.Tyr1102His	missense variant	-	NC_000023.11:g.64189983A>G	ExAC,gnomAD
rs779786896	p.Leu1107Val	missense variant	-	NC_000023.11:g.64189968G>C	ExAC,gnomAD
rs1038992426	p.Asp1108Asn	missense variant	-	NC_000023.11:g.64189965C>T	TOPMed
rs780867419	p.Glu1112Lys	missense variant	-	NC_000023.11:g.64189953C>T	ExAC,gnomAD
rs777322830	p.Ala1114Ser	missense variant	-	NC_000023.11:g.64189947C>A	ExAC,TOPMed,gnomAD
rs777322830	p.Ala1114Thr	missense variant	-	NC_000023.11:g.64189947C>T	ExAC,TOPMed,gnomAD
rs754401246	p.Leu1120Val	missense variant	-	NC_000023.11:g.64189929G>C	ExAC,TOPMed,gnomAD
rs754401246	p.Leu1120Phe	missense variant	-	NC_000023.11:g.64189929G>A	ExAC,TOPMed,gnomAD
rs766945332	p.Ser1126Cys	missense variant	-	NC_000023.11:g.64189910G>C	ExAC,gnomAD
rs761170439	p.Ala1128Val	missense variant	-	NC_000023.11:g.64189904G>A	ExAC,gnomAD
rs560887174	p.Asn1132Ser	missense variant	-	NC_000023.11:g.64189892T>C	ExAC,gnomAD
rs767920878	p.Ter1136Leu	stop lost	-	NC_000023.11:g.64189880T>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003578	Apnea	phenotype	HPO
C0003706	Arachnodactyly	disease	HPO
C0004903	Beckwith-Wiedemann Syndrome	disease	BEFREE
C0005941	Bone Diseases, Developmental	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0009081	Congenital clubfoot	disease	HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0013274	Patent ductus arteriosus	disease	HPO
C0014544	Epilepsy	disease	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0018777	Conductive hearing loss	disease	HPO
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0018834	Heartburn	phenotype	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0020255	Hydrocephalus	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0023467	Leukemia, Myelocytic, Acute	disease	LHGDN
C0024636	Malocclusion	phenotype	HPO
C0025990	Micrognathism	disease	HPO
C0026106	Mild Mental Retardation	disease	HPO
C0027443	Natal Teeth	phenotype	HPO
C0027708	Nephroblastoma	disease	BEFREE;CTD_human;LHGDN
C0029422	Osteochondrodysplasias	group	BEFREE
C0029454	Osteopetrosis	disease	HPO
C0031900	Pierre Robin Syndrome	disease	HPO
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0036572	Seizures	phenotype	HPO
C0037932	Curvature of spine	phenotype	HPO
C0040433	Tooth Crowding	phenotype	HPO
C0079924	Oligohydramnios	phenotype	HPO
C0080174	Spina Bifida Occulta	disease	HPO
C0152423	Congenital small ears	disease	HPO
C0158113	Contracture of joint of hand	phenotype	HPO
C0175754	Agenesis of corpus callosum	disease	BEFREE
C0206624	Hepatoblastoma	disease	BEFREE
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE
C0221210	Congenital malrotation of intestine	disease	HPO
C0221217	Neck webbing	disease	HPO
C0221354	Frontal bossing	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0239174	Late tooth eruption	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0265513	Osteopathia striata	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0277828	Late fontanel closure	phenotype	HPO
C0281890	Laryngeal web	disease	HPO
C0282160	Aplasia Cutis Congenita	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376175	Bell Palsy	disease	HPO
C0410528	Skeletal dysplasia	disease	BEFREE
C0427055	Facial Paresis	phenotype	HPO
C0431368	Partial agenesis of corpus callosum	disease	HPO
C0431478	Posteriorly rotated ear	disease	HPO
C0432103	Submucous cleft of hard palate	disease	HPO
C0432268	Osteopathia striata cranial sclerosis	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET
C0454555	Hypernasal voice	phenotype	HPO
C0456132	Large fontanelle	phenotype	HPO
C0566620	Nasal voice	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0685409	Congenital Camptodactyly	disease	HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C0878500	Intraepithelial Neoplasia	disease	BEFREE
C0948187	Tracheomalacia	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1261473	Sarcoma	group	BEFREE
C1298180	Single tumor	phenotype	BEFREE
C1317785	Tooth size discrepancy	phenotype	HPO
C1320468	Nephrogenic rest	phenotype	BEFREE
C1378703	Renal carcinoma	disease	BEFREE
C1406835	Flexion contracture of toe	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1827524	Wide spaced nipples	phenotype	HPO
C1832119	Fibular hypoplasia	phenotype	HPO
C1836186	Fibular aplasia	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837402	Flat occiput	phenotype	HPO
C1837404	High, narrow palate	phenotype	HPO
C1837731	Overfolded helix	phenotype	HPO
C1839739	Thick lower lip vermilion	phenotype	HPO
C1839758	Narrow forehead	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1845805	Cranial sclerosis	phenotype	HPO
C1848654	Broad ribs	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1851714	Sclerosis of skull base	phenotype	HPO
C1855418	Thoracolumbar kyphosis	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857278	Partial or complete agenesis of corpus callosum	disease	HPO
C1857501	Facial hyperostosis	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1858452	Thickened calvaria	phenotype	HPO
C1858719	Facial muscle weakness of muscles innervated by CN VII	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1969680	High iliac wings	phenotype	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2053437	Full lower lip	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2315100	Pediatric failure to thrive	disease	HPO
C2749161	Paranasal sinus hypoplasia	phenotype	HPO
C2930471	Bilateral Wilms Tumor	disease	CTD_human
C2981150	Uranostaphyloschisis	disease	HPO
C3550658	Maternal oligohydramnios	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C3840083	Late closure of anterior fontanel	phenotype	HPO
C4020894	Submucous clefting	phenotype	HPO
C4020958	Rough bone trabeculation	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024618	Large iliac wings	phenotype	HPO
C4025016	Straight clavicles	phenotype	HPO
C4025193	Craniofacial osteosclerosis	phenotype	HPO
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4072820	Large bregma sutures	phenotype	HPO
C4072821	Large, late-closing fontanelle	phenotype	HPO
C4072822	Wide bregma sutures	phenotype	HPO
C4072831	Delayed closure of the soft spot on the skull	phenotype	HPO
C4072847	HyperCalcification of skull base	phenotype	HPO
C4072848	HyperMineralization of skull base	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280256	Hypotrophic paranasal sinus	phenotype	HPO
C4280441	Decreased pneumatization of paranasal sinus	phenotype	HPO
C4280442	Atelectasis of paranasal sinus	phenotype	HPO
C4280482	Flat back of the head	phenotype	HPO
C4280485	Increased ossification of facial bones	phenotype	HPO
C4280486	Hypertrophy of facial bones	phenotype	HPO
C4280487	Enlargement of facial bones	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280560	Increased thickness of cranium	phenotype	HPO
C4280613	Angle class 3 malocclusion	phenotype	HPO
C4280614	Angle class 2 malocclusion	disease	HPO
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4317146	Acid reflux	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IMP
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA
GO:0008013	beta-catenin binding	IPI
GO:0008013	beta-catenin binding	IDA
GO:0008013	beta-catenin binding	IBA
GO:1904713	beta-catenin destruction complex binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0016055	Wnt signaling pathway	TAS
GO:0031398	positive regulation of protein ubiquitination	IDA
GO:0060348	bone development	IEA
GO:0060612	adipose tissue development	IEA
GO:0060828	regulation of canonical Wnt signaling pathway	IMP
GO:0060828	regulation of canonical Wnt signaling pathway	IBA
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP
GO:1903364	positive regulation of cellular protein catabolic process	IDA
GO:1904885	beta-catenin destruction complex assembly	TAS
GO:1904886	beta-catenin destruction complex disassembly	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0016604	nuclear body	IDA
GO:0043231	intracellular membrane-bounded organelle	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-1643685	Disease	TAS
R-HSA-195253	Degradation of beta-catenin by the destruction complex	TAS
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-196299	Beta-catenin phosphorylation cascade	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	IEA
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	IEA
R-HSA-4791275	Signaling by WNT in cancer	TAS
R-HSA-4839735	AXIN mutants destabilize the destruction complex, activating WNT signaling	TAS
R-HSA-4839743	phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex	TAS
R-HSA-4839744	truncated APC mutants destabilize the destruction complex	TAS
R-HSA-4839748	AMER1 mutants destabilize the destruction complex	TAS
R-HSA-5339716	Misspliced GSK3beta mutants stabilize beta-catenin	TAS
R-HSA-5358747	S33 mutants of beta-catenin aren't phosphorylated	TAS
R-HSA-5358749	S37 mutants of beta-catenin aren't phosphorylated	TAS
R-HSA-5358751	S45 mutants of beta-catenin aren't phosphorylated	TAS
R-HSA-5358752	T41 mutants of beta-catenin aren't phosphorylated	TAS
R-HSA-5467337	APC truncation mutants have impaired AXIN binding	TAS
R-HSA-5467340	AXIN missense mutants destabilize the destruction complex	TAS
R-HSA-5467348	Truncations of AMER1 destabilize the destruction complex	TAS
R-HSA-5663202	Diseases of signal transduction	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane results in decreased expression of AMER1 mRNA	25575267
C486184	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol results in decreased expression of AMER1 mRNA	25575267
C496492	abrine	abrine results in decreased expression of AMER1 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of AMER1 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of AMER1 exon	30157460
D000661	Amphetamine	Amphetamine results in decreased expression of AMER1 mRNA	30779732
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of AMER1 gene	25435355
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of AMER1 exon	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of AMER1 mRNA	25575267
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in decreased expression of AMER1 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of AMER1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of AMER1 mRNA	29097150
D002945	Cisplatin	Cisplatin results in decreased expression of AMER1 mRNA	27594783
D002945	Cisplatin	Cisplatin results in increased expression of AMER1 mRNA	27392435
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of AMER1 mRNA	19549813
D003471	Cuprizone	Cuprizone affects the expression of AMER1 mRNA	27523638
D003471	Cuprizone	Cuprizone results in decreased expression of AMER1 mRNA	26577399
D003976	Diazinon	Diazinon results in increased methylation of AMER1 gene	22964155
C000944	dicrotophos	dicrotophos results in increased expression of AMER1 mRNA	28302478
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of AMER1 mRNA	25575267
C118739	entinostat	entinostat results in decreased expression of AMER1 mRNA	27188386
D004958	Estradiol	Estradiol results in increased expression of AMER1 mRNA	23019147
D004958	Estradiol	Estradiol results in decreased expression of AMER1 mRNA	25575267
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in decreased expression of AMER1 mRNA	26496021
D004964	Estriol	Estriol results in decreased expression of AMER1 mRNA	25575267
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of AMER1 mRNA	29097150
D017313	Fenretinide	Fenretinide results in decreased expression of AMER1 mRNA	28973697
C000593030	GSK-J4	GSK-J4 results in decreased expression of AMER1 mRNA	29301935
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of AMER1 mRNA	26752646; 27432991;
D000077339	Leflunomide	Leflunomide results in decreased expression of AMER1 mRNA	28988120
D008701	Methapyrilene	Methapyrilene results in increased methylation of AMER1 exon	30157460
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of AMER1 mRNA	31059758
C028577	monobutyl phthalate	monobutyl phthalate results in increased expression of AMER1 mRNA	29162477
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of AMER1 mRNA	29244179
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of AMER1 mRNA	25172293
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of AMER1 mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of AMER1 mRNA	28818685

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0963	Cytoplasm
KW-0446	Lipid-binding
KW-0472	Membrane
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR019003	AMER

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF09422	WTX

Gene: AMER1

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

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