Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.3082662_3082703del	CA2651674344	AVP	c.426_467del (p.Leu142_Pro155del)	gnomAD v4
20	g.3082668_3082709del	CA2651674346	AVP	c.419_460del (p.Gly140_Pro153del)	gnomAD v4
20	g.3082679_3082711del	CA2651674349	AVP	c.423_455del (p.Leu142_Ala152del)	gnomAD v4
20	g.3082676_3082717del	CA2651674353	AVP	c.412_453del (p.Pro138_Gly151del)	gnomAD v4
20	g.3082685_3082726del	CA2535842482	AVP	c.407_448del (p.Asp136_Leu149del)	gnomAD v4
20	g.3082696C>A	CA509404035	AVP	c.429G>T (p.Leu143=)	gnomAD v4
20	g.3082696C>G	CA509404031	AVP	c.429G>C (p.Leu143=)	gnomAD v4
20	g.3082696C>T	CA509404034	AVP	c.429G>A (p.Leu143=)	gnomAD v4
20	g.3082697A>C	CA408061233	AVP	c.428T>G (p.Leu143Arg)
20	g.3082697A>G	CA408061234	AVP	c.428T>C (p.Leu143Pro)	gnomAD v4
20	g.3082697A>T	CA408061235	AVP	c.428T>A (p.Leu143Gln)
20	g.3082698G>A	CA509404050	AVP	c.427C>T (p.Leu143=)	gnomAD v4
20	g.3082698G>C	CA408061236	AVP	c.427C>G (p.Leu143Val)	gnomAD v4
20	g.3082698G>T	CA408061237	AVP	c.427C>A (p.Leu143Met)	gnomAD v4
20	g.3082699C>A	CA408061238	AVP	c.426G>T (p.Leu142Phe)	gnomAD v4
20	g.3082699C=	CA2346405218	AVP	c.426G= (p.Leu142=)
20	g.3082699C>G	CA408061239	AVP	c.426G>C (p.Leu142Phe)	dbSNP
20	g.3082699C>T	CA509404055	AVP	c.426G>A (p.Leu142=)	gnomAD v4
20	g.3082700A>C	CA408061240	AVP	c.425T>G (p.Leu142Trp)
20	g.3082700A>G	CA408061242	AVP	c.425T>C (p.Leu142Ser)	gnomAD v4
20	g.3082700A>T	CA408061241	AVP	c.425T>A (p.Leu142Ter)	gnomAD v4
20	g.3082701A>C	CA408061243	AVP	c.424T>G (p.Leu142Val)
20	g.3082701A>G	CA509404071	AVP	c.424T>C (p.Leu142=)	gnomAD v4
20	g.3082701A>T	CA408061244	AVP	c.424T>A (p.Leu142Met)
20	g.3082702G>A	CA509404075	AVP	c.423C>T (p.Ala141=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082702G>C	CA509404077	AVP	c.423C>G (p.Ala141=)
20	g.3082702G=	CA2346405220	AVP	c.423C= (p.Ala141=)
20	g.3082702G>T	CA509404079	AVP	c.423C>A (p.Ala141=)	gnomAD v4
20	g.3082703G>A	CA310942881	AVP	c.422C>T (p.Ala141Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082703G>C	CA408061245	AVP	c.422C>G (p.Ala141Gly)	gnomAD v4
20	g.3082703G=	CA2346405222	AVP	c.422C= (p.Ala141=)
20	g.3082703G>T	CA408061246	AVP	c.422C>A (p.Ala141Asp)	gnomAD v4
20	g.3082704C>A	CA408061247	AVP	c.421G>T (p.Ala141Ser)	gnomAD v4
20	g.3082704C=	CA2346405224	AVP	c.421G= (p.Ala141=)
20	g.3082704C>G	CA408061248	AVP	c.421G>C (p.Ala141Pro)	gnomAD v4
20	g.3082704C>T	CA9739419	AVP	c.421G>A (p.Ala141Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082707del	CA634168094	AVP	c.421del (p.Ala141ProfsTer?)	gnomAD v2 gnomAD v4
20	g.3082705C>A	CA509404090	AVP	c.420G>T (p.Gly140=)	gnomAD v4
20	g.3082705C>G	CA509404093	AVP	c.420G>C (p.Gly140=)	gnomAD v4
20	g.3082705C>T	CA509404095	AVP	c.420G>A (p.Gly140=)	gnomAD v4
20	g.3082706C>A	CA408061249	AVP	c.419G>T (p.Gly140Val)	gnomAD v4
20	g.3082706C>G	CA408061250	AVP	c.419G>C (p.Gly140Ala)
20	g.3082706C>T	CA408061251	AVP	c.419G>A (p.Gly140Glu)	gnomAD v4
20	g.3082707C>A	CA408061252	AVP	c.418G>T (p.Gly140Trp)	gnomAD v4
20	g.3082707C=	CA2346405230	AVP	c.418G= (p.Gly140=)
20	g.3082707C>G	CA408061253	AVP	c.418G>C (p.Gly140Arg)	gnomAD v4
20	g.3082707C>T	CA310942915	AVP	c.418G>A (p.Gly140Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.3082708G>A	CA509404102	AVP	c.417C>T (p.Ala139=)	gnomAD v4
20	g.3082708G>C	CA509404104	AVP	c.417C>G (p.Ala139=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082708G=	CA2346405232	AVP	c.417C= (p.Ala139=)
20	g.3082708G>T	CA310942928	AVP	c.417C>A (p.Ala139=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082709G>A	CA408061254	AVP	c.416C>T (p.Ala139Val)	gnomAD v4
20	g.3082709G>C	CA408061255	AVP	c.416C>G (p.Ala139Gly)	gnomAD v4
20	g.3082709G=	CA2346405235	AVP	c.416C= (p.Ala139=)
20	g.3082709G>T	CA310942943	AVP	c.416C>A (p.Ala139Asp)	dbSNP gnomAD v4
20	g.3082710C>A	CA408061256	AVP	c.415G>T (p.Ala139Ser)	gnomAD v4
20	g.3082710C>G	CA408061257	AVP	c.415G>C (p.Ala139Pro)
20	g.3082710C>T	CA408061258	AVP	c.415G>A (p.Ala139Thr)	gnomAD v4
20	g.3082711C>A	CA509404115	AVP	c.414G>T (p.Pro138=)	gnomAD v4
20	g.3082711C=	CA2346405237	AVP	c.414G= (p.Pro138=)
20	g.3082711C>G	CA509404117	AVP	c.414G>C (p.Pro138=)	gnomAD v4
20	g.3082711C>T	CA509404118	AVP	c.414G>A (p.Pro138=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082712G>A	CA408061259	AVP	c.413C>T (p.Pro138Leu)	dbSNP gnomAD v4
20	g.3082712G>C	CA408061261	AVP	c.413C>G (p.Pro138Arg)	gnomAD v4
20	g.3082712G=	CA2346405239	AVP	c.413C= (p.Pro138=)
20	g.3082712G>T	CA408061260	AVP	c.413C>A (p.Pro138Gln)	gnomAD v4
20	g.3082713G>A	CA408061262	AVP	c.412C>T (p.Pro138Ser)	gnomAD v4
20	g.3082713G>C	CA408061263	AVP	c.412C>G (p.Pro138Ala)
20	g.3082713G>T	CA408061264	AVP	c.412C>A (p.Pro138Thr)	gnomAD v4
20	g.3082714C>A	CA509404128	AVP	c.411G>T (p.Gly137=)	gnomAD v4
20	g.3082714C>G	CA509404132	AVP	c.411G>C (p.Gly137=)	gnomAD v4
20	g.3082714C>T	CA509404130	AVP	c.411G>A (p.Gly137=)	gnomAD v4
20	g.3082716del	CA2651674356	AVP	c.411del (p.Pro138ArgfsTer?)	gnomAD v4
20	g.3082715_3082716del	CA2651674357	AVP	c.410_411del (p.Gly137AlafsTer?)	gnomAD v4
20	g.3082715C>A	CA408061265	AVP	c.410G>T (p.Gly137Val)	gnomAD v4
20	g.3082715C=	CA2346405241	AVP	c.410G= (p.Gly137=)
20	g.3082715C>G	CA408061266	AVP	c.410G>C (p.Gly137Ala)	gnomAD v4
20	g.3082715C>T	CA408061267	AVP	c.410G>A (p.Gly137Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082716C>A	CA310942949	AVP	c.409G>T (p.Gly137Trp)	dbSNP gnomAD v3 gnomAD v4
20	g.3082716C=	CA2346405246	AVP	c.409G= (p.Gly137=)
20	g.3082716C>G	CA310942948	AVP	c.409G>C (p.Gly137Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082716C>T	CA9739420	AVP	c.409G>A (p.Gly137Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082717G>A	CA509404137	AVP	c.408C>T (p.Asp136=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082717G>C	CA408061268	AVP	c.408C>G (p.Asp136Glu)
20	g.3082717G=	CA2346405248	AVP	c.408C= (p.Asp136=)
20	g.3082717G>T	CA408061269	AVP	c.408C>A (p.Asp136Glu)	dbSNP gnomAD v3 gnomAD v4
20	g.3082718T>A	CA408061270	AVP	c.407A>T (p.Asp136Val)
20	g.3082718T>C	CA408061271	AVP	c.407A>G (p.Asp136Gly)	gnomAD v4
20	g.3082718T>G	CA408061272	AVP	c.407A>C (p.Asp136Ala)	gnomAD v4
20	g.3082719C>A	CA408061273	AVP	c.406G>T (p.Asp136Tyr)	gnomAD v4
20	g.3082719C>G	CA408061275	AVP	c.406G>C (p.Asp136His)	gnomAD v4
20	g.3082719C>T	CA408061274	AVP	c.406G>A (p.Asp136Asn)	gnomAD v4
20	g.3082720del	CA2651674358	AVP	c.406del (p.Asp136ThrfsTer?)	gnomAD v4
20	g.3082720C>A	CA509404152	AVP	c.405G>T (p.Leu135=)	gnomAD v4
20	g.3082720C>G	CA509404154	AVP	c.405G>C (p.Leu135=)	gnomAD v4
20	g.3082720C>T	CA509404155	AVP	c.405G>A (p.Leu135=)	gnomAD v4
20	g.3082721A=	CA2346405251	AVP	c.404T= (p.Leu135=)
20	g.3082721A>C	CA408061276	AVP	c.404T>G (p.Leu135Arg)
20	g.3082721A>G	CA408061277	AVP	c.404T>C (p.Leu135Pro)	dbSNP gnomAD v4
20	g.3082721A>T	CA408061278	AVP	c.404T>A (p.Leu135Gln)	gnomAD v4
20	g.3082722G>A	CA310942950	AVP	c.403C>T (p.Leu135=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082722G>C	CA408061279	AVP	c.403C>G (p.Leu135Val)
20	g.3082722G=	CA2346405255	AVP	c.403C= (p.Leu135=)
20	g.3082722G>T	CA408061280	AVP	c.403C>A (p.Leu135Met)	gnomAD v4
20	g.3082723C>A	CA408061281	AVP	c.402G>T (p.Gln134His)	gnomAD v4
20	g.3082723C>G	CA408061282	AVP	c.402G>C (p.Gln134His)	gnomAD v4
20	g.3082723C>T	CA509404165	AVP	c.402G>A (p.Gln134=)	gnomAD v4
20	g.3082724T>A	CA408061283	AVP	c.401A>T (p.Gln134Leu)
20	g.3082724T>C	CA408061284	AVP	c.401A>G (p.Gln134Arg)	gnomAD v4
20	g.3082724T>G	CA408061285	AVP	c.401A>C (p.Gln134Pro)
20	g.3082725G>A	CA408061286	AVP	c.400C>T (p.Gln134Ter)	gnomAD v4
20	g.3082725G>C	CA408061288	AVP	c.400C>G (p.Gln134Glu)	dbSNP
20	g.3082725G=	CA2346405258	AVP	c.400C= (p.Gln134=)
20	g.3082725G>T	CA408061287	AVP	c.400C>A (p.Gln134Lys)	gnomAD v4
20	g.3082726C>A	CA509404177	AVP	c.399G>T (p.Thr133=)	gnomAD v4
20	g.3082726C=	CA2346405263	AVP	c.399G= (p.Thr133=)
20	g.3082726C>G	CA509404174	AVP	c.399G>C (p.Thr133=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082726C>T	CA509404172	AVP	c.399G>A (p.Thr133=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082727G>A	CA408061289	AVP	c.398C>T (p.Thr133Met)	gnomAD v4
20	g.3082727G>C	CA408061291	AVP	c.398C>G (p.Thr133Arg)	gnomAD v4
20	g.3082727G=	CA2346405265	AVP	c.398C= (p.Thr133=)
20	g.3082727G>T	CA408061290	AVP	c.398C>A (p.Thr133Lys)	dbSNP gnomAD v4
20	g.3082728T>A	CA408061292	AVP	c.397A>T (p.Thr133Ser)	gnomAD v4
20	g.3082728T>C	CA408061293	AVP	c.397A>G (p.Thr133Ala)	gnomAD v4
20	g.3082728T>G	CA408061294	AVP	c.397A>C (p.Thr133Pro)
20	g.3082729G>A	CA509404186	AVP	c.396C>T (p.Ala132=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082729G>C	CA509404185	AVP	c.396C>G (p.Ala132=)
20	g.3082729G=	CA2346405266	AVP	c.396C= (p.Ala132=)
20	g.3082729G>T	CA509404184	AVP	c.396C>A (p.Ala132=)	gnomAD v4
20	g.3082730G>A	CA408061295	AVP	c.395C>T (p.Ala132Val)	dbSNP gnomAD v3 gnomAD v4
20	g.3082730G>C	CA408061296	AVP	c.395C>G (p.Ala132Gly)	gnomAD v4
20	g.3082730G=	CA2346405267	AVP	c.395C= (p.Ala132=)
20	g.3082730G>T	CA408061297	AVP	c.395C>A (p.Ala132Asp)	gnomAD v4
20	g.3082731C>A	CA408061298	AVP	c.394G>T (p.Ala132Ser)	gnomAD v4
20	g.3082731C>G	CA408061299	AVP	c.394G>C (p.Ala132Pro)	gnomAD v4
20	g.3082731C>T	CA408061300	AVP	c.394G>A (p.Ala132Thr)	gnomAD v4
20	g.3082732G>A	CA509404200	AVP	c.393C>T (p.Asn131=)	gnomAD v4
20	g.3082732G>C	CA408061301	AVP	c.393C>G (p.Asn131Lys)	gnomAD v4
20	g.3082732G>T	CA408061302	AVP	c.393C>A (p.Asn131Lys)	gnomAD v4
20	g.3082733T>A	CA408061305	AVP	c.392A>T (p.Asn131Ile)
20	g.3082733T>C	CA408061304	AVP	c.392A>G (p.Asn131Ser)	gnomAD v4
20	g.3082733T>G	CA408061303	AVP	c.392A>C (p.Asn131Thr)
20	g.3082734T>A	CA408061306	AVP	c.391A>T (p.Asn131Tyr)
20	g.3082734T>C	CA408061307	AVP	c.391A>G (p.Asn131Asp)	gnomAD v4
20	g.3082734T>G	CA408061308	AVP	c.391A>C (p.Asn131His)
20	g.3082735G>A	CA509404215	AVP	c.390C>T (p.Ser130=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082735G>C	CA408061309	AVP	c.390C>G (p.Ser130Arg)
20	g.3082735G=	CA2346405269	AVP	c.390C= (p.Ser130=)
20	g.3082735G>T	CA408061310	AVP	c.390C>A (p.Ser130Arg)	gnomAD v4
20	g.3082736C>A	CA408061311	AVP	c.389G>T (p.Ser130Ile)	gnomAD v4
20	g.3082736C>G	CA408061312	AVP	c.389G>C (p.Ser130Thr)
20	g.3082736C>T	CA408061313	AVP	c.389G>A (p.Ser130Asn)	gnomAD v4
20	g.3082737T>A	CA408061314	AVP	c.388A>T (p.Ser130Cys)	gnomAD v4
20	g.3082737T>C	CA408061315	AVP	c.388A>G (p.Ser130Gly)	gnomAD v4
20	g.3082737T>G	CA408061316	AVP	c.388A>C (p.Ser130Arg)
20	g.3082738C>A	CA509404226	AVP	c.387G>T (p.Arg129=)	gnomAD v4
20	g.3082738C>G	CA509404227	AVP	c.387G>C (p.Arg129=)
20	g.3082738C>T	CA509404230	AVP	c.387G>A (p.Arg129=)	gnomAD v4
20	g.3082738_3082739del	CA2651674359	AVP	c.386_387del (p.Arg129GlnfsTer?)	gnomAD v4
20	g.3082739del	CA2651674360	AVP	c.387del (p.Ser130AlafsTer?)	gnomAD v4
20	g.3082739C>A	CA408061319	AVP	c.386G>T (p.Arg129Leu)	gnomAD v4
20	g.3082739C=	CA2346405271	AVP	c.386G= (p.Arg129=)
20	g.3082739C>G	CA408061318	AVP	c.386G>C (p.Arg129Pro)	dbSNP gnomAD v4
20	g.3082739C>T	CA408061317	AVP	c.386G>A (p.Arg129Gln)	dbSNP gnomAD v3 gnomAD v4
20	g.3082742_3082777del	CA2651674361	AVP	c.351_386del (p.Glu118_Arg129del)	gnomAD v4
20	g.3082740G>A	CA408061320	AVP	c.385C>T (p.Arg129Trp)	gnomAD v4
20	g.3082740G>C	CA408061321	AVP	c.385C>G (p.Arg129Gly)	gnomAD v4
20	g.3082740G=	CA2346405275	AVP	c.385C= (p.Arg129=)
20	g.3082740G>T	CA509404236	AVP	c.385C>A (p.Arg129=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082741G>A	CA509404240	AVP	c.384C>T (p.Asp128=)	gnomAD v4
20	g.3082741G>C	CA408061322	AVP	c.384C>G (p.Asp128Glu)	gnomAD v4
20	g.3082741G>T	CA408061323	AVP	c.384C>A (p.Asp128Glu)	gnomAD v4
20	g.3082742T>A	CA408061324	AVP	c.383A>T (p.Asp128Val)	gnomAD v4
20	g.3082742T>C	CA408061325	AVP	c.383A>G (p.Asp128Gly)	gnomAD v4
20	g.3082742T>G	CA408061326	AVP	c.383A>C (p.Asp128Ala)
20	g.3082742T=	CA2346405277	AVP	c.383A= (p.Asp128=)
20	g.3082743C>A	CA408061327	AVP	c.382G>T (p.Asp128Tyr)	gnomAD v4
20	g.3082743C>G	CA408061328	AVP	c.382G>C (p.Asp128His)	gnomAD v4
20	g.3082743C>T	CA408061329	AVP	c.382G>A (p.Asp128Asn)	gnomAD v4
20	g.3082746_3082751dup	CA9739421	AVP	c.377_382dup (p.Ser127_Asp128insAlaSer)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082744G>A	CA509404248	AVP	c.381C>T (p.Ser127=)	gnomAD v4
20	g.3082744G>C	CA408061330	AVP	c.381C>G (p.Ser127Arg)
20	g.3082744G>T	CA408061331	AVP	c.381C>A (p.Ser127Arg)	gnomAD v4
20	g.3082745C>A	CA408061334	AVP	c.380G>T (p.Ser127Ile)	gnomAD v4
20	g.3082745C>G	CA408061332	AVP	c.380G>C (p.Ser127Thr)
20	g.3082745C>T	CA408061333	AVP	c.380G>A (p.Ser127Asn)	gnomAD v4
20	g.3082746T>A	CA408061335	AVP	c.379A>T (p.Ser127Cys)
20	g.3082746T>C	CA408061336	AVP	c.379A>G (p.Ser127Gly)	ClinVar gnomAD v4
20	g.3082746T>G	CA408061337	AVP	c.379A>C (p.Ser127Arg)
20	g.3082746_3082752delinsTGGCGCG	CA2346405279	AVP	c.373_379delinsCGCGCCA (p.Arg125=)
20	g.3082747G>A	CA509404254	AVP	c.378C>T (p.Ala126=)	gnomAD v4
20	g.3082747G>C	CA509404257	AVP	c.378C>G (p.Ala126=)	gnomAD v4
20	g.3082747G>T	CA509404259	AVP	c.378C>A (p.Ala126=)	gnomAD v4
20	g.3082754_3082759dup	CA2651674362	AVP	c.373_378dup (p.Ala126_Ser127insArgAla)	gnomAD v4
20	g.3082754_3082759del	CA2346405280	AVP	c.373_378del (p.Arg125_Ala126del)	dbSNP gnomAD v4
20	g.3082748G>A	CA408061338	AVP	c.377C>T (p.Ala126Val)	gnomAD v4
20	g.3082748G>C	CA408061339	AVP	c.377C>G (p.Ala126Gly)
20	g.3082748G>T	CA408061340	AVP	c.377C>A (p.Ala126Asp)	gnomAD v4
20	g.3082749C>A	CA408061341	AVP	c.376G>T (p.Ala126Ser)	gnomAD v4
20	g.3082749C=	CA2346405283	AVP	c.376G= (p.Ala126=)
20	g.3082749C>G	CA408061342	AVP	c.376G>C (p.Ala126Pro)	dbSNP gnomAD v4
20	g.3082749C>T	CA408061343	AVP	c.376G>A (p.Ala126Thr)	gnomAD v4
20	g.3082750G>A	CA509404266	AVP	c.375C>T (p.Arg125=)	gnomAD v4
20	g.3082750G>C	CA509404268	AVP	c.375C>G (p.Arg125=)	gnomAD v4
20	g.3082750G>T	CA509404270	AVP	c.375C>A (p.Arg125=)	gnomAD v4
20	g.3082758_3082845del	CA2651674363	AVP	c.323-35_375del	gnomAD v4
20	g.3082751del	CA2651674364	AVP	c.374del (p.Arg125ProfsTer?)	gnomAD v4
20	g.3082751C>A	CA408061344	AVP	c.374G>T (p.Arg125Leu)	gnomAD v4
20	g.3082751C=	CA2346405287	AVP	c.374G= (p.Arg125=)
20	g.3082751C>G	CA408061345	AVP	c.374G>C (p.Arg125Pro)	gnomAD v4
20	g.3082751C>T	CA310942952	AVP	c.374G>A (p.Arg125His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082752G>A	CA408061348	AVP	c.373C>T (p.Arg125Cys)	gnomAD v4
20	g.3082752G>C	CA408061347	AVP	c.373C>G (p.Arg125Gly)	gnomAD v4
20	g.3082752G=	CA2346405289	AVP	c.373C= (p.Arg125=)
20	g.3082752G>T	CA408061346	AVP	c.373C>A (p.Arg125Ser)	dbSNP gnomAD v4
20	g.3082754del	CA2651674365	AVP	c.373del (p.Arg125AlafsTer?)	gnomAD v4
20	g.3082753G>A	CA509404283	AVP	c.372C>T (p.Ala124=)	gnomAD v4
20	g.3082753G>C	CA509404281	AVP	c.372C>G (p.Ala124=)
20	g.3082753G>T	CA509404279	AVP	c.372C>A (p.Ala124=)	gnomAD v4
20	g.3082757_3082761del	CA2651674366	AVP	c.368_372del (p.Arg123ProfsTer?)	gnomAD v4
20	g.3082754G>A	CA408061350	AVP	c.371C>T (p.Ala124Val)	gnomAD v4
20	g.3082754G>C	CA408061349	AVP	c.371C>G (p.Ala124Gly)	dbSNP gnomAD v4
20	g.3082754G=	CA2346405291	AVP	c.371C= (p.Ala124=)
20	g.3082754G>T	CA408061351	AVP	c.371C>A (p.Ala124Asp)	gnomAD v4
20	g.3082755C>A	CA408061352	AVP	c.370G>T (p.Ala124Ser)	dbSNP gnomAD v3 gnomAD v4
20	g.3082755C=	CA2346405293	AVP	c.370G= (p.Ala124=)
20	g.3082755C>G	CA408061354	AVP	c.370G>C (p.Ala124Pro)	gnomAD v4
20	g.3082755C>T	CA408061353	AVP	c.370G>A (p.Ala124Thr)	dbSNP gnomAD v4
20	g.3082761_3082778dup	CA2651674367	AVP	c.353_370dup (p.Arg123_Ala124insGluGlyPheHisArgArg)	gnomAD v4
20	g.3082756G>A	CA509404289	AVP	c.369C>T (p.Arg123=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082756G>C	CA509404291	AVP	c.369C>G (p.Arg123=)
20	g.3082756G=	CA2346405296	AVP	c.369C= (p.Arg123=)
20	g.3082756G>T	CA509404293	AVP	c.369C>A (p.Arg123=)	gnomAD v4
20	g.3082757C>A	CA408061355	AVP	c.368G>T (p.Arg123Leu)	dbSNP gnomAD v2 gnomAD v4
20	g.3082757C=	CA2346405300	AVP	c.368G= (p.Arg123=)
20	g.3082757C>G	CA408061356	AVP	c.368G>C (p.Arg123Pro)	gnomAD v4
20	g.3082757C>T	CA310942956	AVP	c.368G>A (p.Arg123His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082758G>A	CA408061357	AVP	c.367C>T (p.Arg123Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082758G>C	CA408061358	AVP	c.367C>G (p.Arg123Gly)	gnomAD v4
20	g.3082758G=	CA2346405303	AVP	c.367C= (p.Arg123=)
20	g.3082758G>T	CA310942959	AVP	c.367C>A (p.Arg123Ser)	dbSNP gnomAD v3 gnomAD v4
20	g.3082759G>A	CA509404303	AVP	c.366C>T (p.Arg122=)	gnomAD v4
20	g.3082759G>C	CA509404305	AVP	c.366C>G (p.Arg122=)	gnomAD v4
20	g.3082759G>T	CA509404304	AVP	c.366C>A (p.Arg122=)	gnomAD v4
20	g.3082760del	CA2651674368	AVP	c.365del (p.Arg122ProfsTer?)	gnomAD v4
20	g.3082760C>A	CA408061359	AVP	c.365G>T (p.Arg122Leu)	gnomAD v4
20	g.3082760C=	CA2346405305	AVP	c.365G= (p.Arg122=)
20	g.3082760C>G	CA408061360	AVP	c.365G>C (p.Arg122Pro)
20	g.3082760C>T	CA9739422	AVP	c.365G>A (p.Arg122His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082764_3082791del	CA2651674369	AVP	c.338_365del (p.Glu113AlafsTer?)	gnomAD v4
20	g.3082761G>A	CA408061361	AVP	c.364C>T (p.Arg122Cys)	gnomAD v4
20	g.3082761G>C	CA408061362	AVP	c.364C>G (p.Arg122Gly)
20	g.3082761G>T	CA408061363	AVP	c.364C>A (p.Arg122Ser)	gnomAD v4
20	g.3082762G>A	CA9739423	AVP	c.363C>T (p.His121=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082762G>C	CA408061364	AVP	c.363C>G (p.His121Gln)	gnomAD v4
20	g.3082762G=	CA2346405309	AVP	c.363C= (p.His121=)
20	g.3082762G>T	CA408061365	AVP	c.363C>A (p.His121Gln)	dbSNP gnomAD v4
20	g.3082763T>A	CA408061366	AVP	c.362A>T (p.His121Leu)
20	g.3082763T>C	CA408061367	AVP	c.362A>G (p.His121Arg)	gnomAD v4
20	g.3082763T>G	CA408061368	AVP	c.362A>C (p.His121Pro)
20	g.3082764del	CA2651674370	AVP	c.361del (p.His121ThrfsTer?)	gnomAD v4
20	g.3082764G>A	CA310942968	AVP	c.361C>T (p.His121Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082764G>C	CA408061369	AVP	c.361C>G (p.His121Asp)	gnomAD v4
20	g.3082764G=	CA2346405311	AVP	c.361C= (p.His121=)
20	g.3082764G>T	CA408061370	AVP	c.361C>A (p.His121Asn)	gnomAD v4
20	g.3082765A>C	CA408061371	AVP	c.360T>G (p.Phe120Leu)
20	g.3082765A>G	CA509404339	AVP	c.360T>C (p.Phe120=)	gnomAD v4
20	g.3082765A>T	CA408061372	AVP	c.360T>A (p.Phe120Leu)
20	g.3082767del	CA2651674371	AVP	c.360del (p.His121ThrfsTer?)	gnomAD v4
20	g.3082766A>C	CA408061373	AVP	c.359T>G (p.Phe120Cys)	gnomAD v4
20	g.3082766A>G	CA408061374	AVP	c.359T>C (p.Phe120Ser)	gnomAD v4
20	g.3082766A>T	CA408061375	AVP	c.359T>A (p.Phe120Tyr)	gnomAD v4
20	g.3082767A>C	CA408061378	AVP	c.358T>G (p.Phe120Val)	gnomAD v4
20	g.3082767A>G	CA408061377	AVP	c.358T>C (p.Phe120Leu)	gnomAD v4
20	g.3082767A>T	CA408061376	AVP	c.358T>A (p.Phe120Ile)	gnomAD v4
20	g.3082768G>A	CA509404351	AVP	c.357C>T (p.Gly119=)	gnomAD v4
20	g.3082768G>C	CA509404353	AVP	c.357C>G (p.Gly119=)	gnomAD v4
20	g.3082768G>T	CA509404354	AVP	c.357C>A (p.Gly119=)	gnomAD v4
20	g.3082769C>A	CA310942976	AVP	c.356G>T (p.Gly119Val)	dbSNP gnomAD v2 gnomAD v4
20	g.3082769C=	CA2346405313	AVP	c.356G= (p.Gly119=)
20	g.3082769C>G	CA408061379	AVP	c.356G>C (p.Gly119Ala)	gnomAD v4
20	g.3082769C>T	CA408061380	AVP	c.356G>A (p.Gly119Asp)	dbSNP gnomAD v4
20	g.3082771del	CA2651674372	AVP	c.356del (p.Gly119AlafsTer?)	gnomAD v4
20	g.3082770C>A	CA408061381	AVP	c.355G>T (p.Gly119Cys)	gnomAD v4
20	g.3082770C>G	CA408061382	AVP	c.355G>C (p.Gly119Arg)
20	g.3082770C>T	CA408061383	AVP	c.355G>A (p.Gly119Ser)	gnomAD v4
20	g.3082771C>A	CA408061385	AVP	c.354G>T (p.Glu118Asp)	gnomAD v4
20	g.3082771C=	CA2346405315	AVP	c.354G= (p.Glu118=)
20	g.3082771C>G	CA408061384	AVP	c.354G>C (p.Glu118Asp)	dbSNP gnomAD v4
20	g.3082771C>T	CA509404372	AVP	c.354G>A (p.Glu118=)	dbSNP gnomAD v4
20	g.3082772T>A	CA408061386	AVP	c.353A>T (p.Glu118Val)	ClinVar gnomAD v4
20	g.3082772T>C	CA408061387	AVP	c.353A>G (p.Glu118Gly)	gnomAD v4
20	g.3082772T>G	CA408061388	AVP	c.353A>C (p.Glu118Ala)	ClinVar gnomAD v4
20	g.3082773C>A	CA408061389	AVP	c.352G>T (p.Glu118Ter)	gnomAD v4
20	g.3082773C>G	CA408061390	AVP	c.352G>C (p.Glu118Gln)	gnomAD v4
20	g.3082773C>T	CA408061391	AVP	c.352G>A (p.Glu118Lys)	gnomAD v4
20	g.3082775_3082776del	CA2651674373	AVP	c.351_352del (p.Glu118GlyfsTer?)	gnomAD v4
20	g.3082774G>A	CA509404390	AVP	c.351C>T (p.Arg117=)	gnomAD v4
20	g.3082774G>C	CA509404387	AVP	c.351C>G (p.Arg117=)	gnomAD v4
20	g.3082774G>T	CA509404389	AVP	c.351C>A (p.Arg117=)	gnomAD v4
20	g.3082775C>A	CA408061392	AVP	c.350G>T (p.Arg117Leu)	gnomAD v4
20	g.3082775C=	CA2346405317	AVP	c.350G= (p.Arg117=)
20	g.3082775C>G	CA408061393	AVP	c.350G>C (p.Arg117Pro)	gnomAD v4
20	g.3082775C>T	CA310942988	AVP	c.350G>A (p.Arg117His)	dbSNP gnomAD v3 gnomAD v4
20	g.3082776G>A	CA408061394	AVP	c.349C>T (p.Arg117Cys)	dbSNP gnomAD v4
20	g.3082776G>C	CA408061395	AVP	c.349C>G (p.Arg117Gly)	dbSNP
20	g.3082776G=	CA2346405320	AVP	c.349C= (p.Arg117=)
20	g.3082776G>T	CA408061396	AVP	c.349C>A (p.Arg117Ser)	gnomAD v4
20	g.3082777G>A	CA509404400	AVP	c.348C>T (p.Cys116=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082777G>C	CA408061397	AVP	c.348C>G (p.Cys116Trp)	gnomAD v4
20	g.3082777G=	CA2346405322	AVP	c.348C= (p.Cys116=)
20	g.3082777G>T	CA408061398	AVP	c.348C>A (p.Cys116Ter)	gnomAD v4
20	g.3082778C>A	CA408061399	AVP	c.347G>T (p.Cys116Phe)	gnomAD v4
20	g.3082778C>G	CA408061400	AVP	c.347G>C (p.Cys116Ser)	gnomAD v4
20	g.3082778C>T	CA408061401	AVP	c.347G>A (p.Cys116Tyr)	ClinVar dbSNP gnomAD v4
20	g.3082779del	CA2651674374	AVP	c.346del (p.Cys116AlafsTer?)	gnomAD v4
20	g.3082779A=	CA2346405324	AVP	c.346T= (p.Cys116=)
20	g.3082779A>C	CA121977	AVP	c.346T>G (p.Cys116Gly)	ClinVar dbSNP
20	g.3082779A>G	CA408061402	AVP	c.346T>C (p.Cys116Arg)	gnomAD v4
20	g.3082779A>T	CA408061403	AVP	c.346T>A (p.Cys116Ser)	gnomAD v4
20	g.3082780C>A	CA408061404	AVP	c.345G>T (p.Glu115Asp)	gnomAD v4
20	g.3082780C=	CA2346405326	AVP	c.345G= (p.Glu115=)
20	g.3082780C>G	CA408061405	AVP	c.345G>C (p.Glu115Asp)	gnomAD v4
20	g.3082780C>T	CA509404416	AVP	c.345G>A (p.Glu115=)	dbSNP gnomAD v3 gnomAD v4
20	g.3082781T>A	CA408061406	AVP	c.344A>T (p.Glu115Val)	gnomAD v4
20	g.3082781T>C	CA408061408	AVP	c.344A>G (p.Glu115Gly)	gnomAD v4
20	g.3082781T>G	CA408061407	AVP	c.344A>C (p.Glu115Ala)
20	g.3082782C>A	CA408061409	AVP	c.343G>T (p.Glu115Ter)	gnomAD v4
20	g.3082782C>G	CA408061410	AVP	c.343G>C (p.Glu115Gln)	gnomAD v4
20	g.3082782C>T	CA408061411	AVP	c.343G>A (p.Glu115Lys)	gnomAD v4
20	g.3082782_3082783delinsAC	CA2695229213	AVP	c.342_343delinsGT (p.Pro115Ter)
20	g.3082783G>A	CA509404428	AVP	c.342C>T (p.Pro114=)	dbSNP gnomAD v4
20	g.3082783G>C	CA509404430	AVP	c.342C>G (p.Pro114=)	gnomAD v4
20	g.3082783G=	CA2346405330	AVP	c.342C= (p.Pro114=)
20	g.3082783G>T	CA509404431	AVP	c.342C>A (p.Pro114=)	dbSNP gnomAD v4
20	g.3082785del	CA2651674375	AVP	c.342del (p.Glu115SerfsTer?)	gnomAD v4
20	g.3082784G>A	CA408061412	AVP	c.341C>T (p.Pro114Leu)	gnomAD v4
20	g.3082784G>C	CA408061413	AVP	c.341C>G (p.Pro114Arg)
20	g.3082784G=	CA2346405335	AVP	c.341C= (p.Pro114=)
20	g.3082784G>T	CA408061414	AVP	c.341C>A (p.Pro114His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082785G>A	CA9739424	AVP	c.340C>T (p.Pro114Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3082785G>C	CA408061415	AVP	c.340C>G (p.Pro114Ala)	gnomAD v4
20	g.3082785G=	CA2346405337	AVP	c.340C= (p.Pro114=)
20	g.3082785G>T	CA408061416	AVP	c.340C>A (p.Pro114Thr)	gnomAD v4
20	g.3082786C>A	CA408061417	AVP	c.339G>T (p.Glu113Asp)	gnomAD v4
20	g.3082786C>G	CA408061418	AVP	c.339G>C (p.Glu113Asp)	gnomAD v4
20	g.3082786C>T	CA509554562	AVP	c.339G>A (p.Glu113=)	gnomAD v4
20	g.3082786dup	CA2651674376	AVP	c.339dup (p.Pro114AlafsTer?)	gnomAD v4
20	g.3082787T>A	CA408061421	AVP	c.338A>T (p.Glu113Val)
20	g.3082787T>C	CA408061420	AVP	c.338A>G (p.Glu113Gly)	gnomAD v4
20	g.3082787T>G	CA408061419	AVP	c.338A>C (p.Glu113Ala)
20	g.3082788del	CA2651674377	AVP	c.337del (p.Glu113SerfsTer?)	gnomAD v4
20	g.3082788C>A	CA121965	AVP	c.337G>T (p.Glu113Ter)	ClinVar dbSNP gnomAD v4
20	g.3082788C=	CA2346405341	AVP	c.337G= (p.Glu113=)
20	g.3082788C>G	CA408061422	AVP	c.337G>C (p.Glu113Gln)
20	g.3082788C>T	CA9739425	AVP	c.337G>A (p.Glu113Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082789G>A	CA509554566	AVP	c.336C>T (p.Thr112=)	gnomAD v4
20	g.3082789G>C	CA509554567	AVP	c.336C>G (p.Thr112=)
20	g.3082789G=	CA2346405343	AVP	c.336C= (p.Thr112=)
20	g.3082789G>T	CA509554569	AVP	c.336C>A (p.Thr112=)	gnomAD v4
20	g.3082790del	CA2651674378	AVP	c.336del (p.Glu113SerfsTer?)	gnomAD v4
20	g.3082789_3082790insA	CA2346405345	AVP	c.335_336insT (p.Glu113ArgfsTer?)	dbSNP gnomAD v4
20	g.3082790G>A	CA310943007	AVP	c.335C>T (p.Thr112Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.3082790G>C	CA408061423	AVP	c.335C>G (p.Thr112Ser)	gnomAD v4
20	g.3082790G=	CA2346405346	AVP	c.335C= (p.Thr112=)
20	g.3082790G>T	CA408061424	AVP	c.335C>A (p.Thr112Asn)	gnomAD v4
20	g.3082791T>A	CA408061425	AVP	c.334A>T (p.Thr112Ser)	gnomAD v4
20	g.3082791T>C	CA408061426	AVP	c.334A>G (p.Thr112Ala)	gnomAD v4
20	g.3082791T>G	CA408061427	AVP	c.334A>C (p.Thr112Pro)
20	g.3082792C>A	CA509554575	AVP	c.333G>T (p.Val111=)	dbSNP gnomAD v2 gnomAD v4
20	g.3082792C=	CA2346405353	AVP	c.333G= (p.Val111=)
20	g.3082792C>G	CA509554576	AVP	c.333G>C (p.Val111=)	gnomAD v4
20	g.3082792C>T	CA509554577	AVP	c.333G>A (p.Val111=)	gnomAD v4
20	g.3082793A=	CA2346405354	AVP	c.332T= (p.Val111=)
20	g.3082793A>C	CA310943016	AVP	c.332T>G (p.Val111Gly)	dbSNP gnomAD v3 gnomAD v4
20	g.3082793A>G	CA408061428	AVP	c.332T>C (p.Val111Ala)	dbSNP gnomAD v4
20	g.3082793A>T	CA408061429	AVP	c.332T>A (p.Val111Glu)	gnomAD v4
20	g.3082794C>A	CA408061431	AVP	c.331G>T (p.Val111Leu)	gnomAD v4
20	g.3082794C=	CA2346405355	AVP	c.331G= (p.Val111=)
20	g.3082794C>G	CA408061430	AVP	c.331G>C (p.Val111Leu)	gnomAD v4
20	g.3082794C>T	CA310943022	AVP	c.331G>A (p.Val111Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3082795G>A	CA509554579	AVP	c.330C>T (p.Cys110=)	gnomAD v4
20	g.3082795G>C	CA408061432	AVP	c.330C>G (p.Cys110Trp)
20	g.3082795G>T	CA408061433	AVP	c.330C>A (p.Cys110Ter)	gnomAD v4
20	g.3082796C>A	CA408061434	AVP	c.329G>T (p.Cys110Phe)	gnomAD v4
20	g.3082796C=	CA2346405356	AVP	c.329G= (p.Cys110=)
20	g.3082796C>G	CA408061435	AVP	c.329G>C (p.Cys110Ser)
20	g.3082796C>T	CA16609034	AVP	c.329G>A (p.Cys110Tyr)	ClinVar dbSNP gnomAD v4

Number of alleles fetched