Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418518_219418537del	CA2663248758	DES	c.56_75del (p.Gly19AlafsTer18)	gnomAD v4
2	g.219418533_219418544del	CA2663248857	DES	c.71_82del (p.Phe24_Gly27del)	gnomAD v4
2	g.219418536_219418537delinsTG	CA2573135504	DES	c.74_75delinsTG (p.Pro25Leu)	ClinVar
2	g.219418537A=	CA180796	DES	c.75A= (p.Pro25=)
2	g.219418537A>C	CA431427438	DES	c.75A>C (p.Pro25=)	dbSNP
2	g.219418537A>G	CA282355	DES	c.75A>G (p.Pro25=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418537A>T	CA431427439	DES	c.75A>T (p.Pro25=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418538C>A	CA350682673	DES	c.76C>A (p.Leu26Ile)	gnomAD v4
2	g.219418538C>G	CA350682686	DES	c.76C>G (p.Leu26Val)
2	g.219418538C>T	CA350682677	DES	c.76C>T (p.Leu26Phe)
2	g.219418539T>A	CA16617476	DES	c.77T>A (p.Leu26His)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418539T>C	CA350682691	DES	c.77T>C (p.Leu26Pro)	gnomAD v4
2	g.219418539T>G	CA350682696	DES	c.77T>G (p.Leu26Arg)
2	g.219418539T=	CA1329209839	DES	c.77T= (p.Leu26=)
2	g.219418540C>A	CA431427442	DES	c.78C>A (p.Leu26=)	gnomAD v4
2	g.219418540C=	CA1329209840	DES	c.78C= (p.Leu26=)
2	g.219418540C>G	CA431427440	DES	c.78C>G (p.Leu26=)	ClinVar dbSNP
2	g.219418540C>T	CA431427441	DES	c.78C>T (p.Leu26=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418541G>A	CA184448	DES	c.79G>A (p.Gly27Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418541G>C	CA350682707	DES	c.79G>C (p.Gly27Arg)	ClinVar dbSNP gnomAD v4
2	g.219418541G=	CA1329209841	DES	c.79G= (p.Gly27=)
2	g.219418541G>T	CA350682711	DES	c.79G>T (p.Gly27Cys)
2	g.219418542G>A	CA350682712	DES	c.80G>A (p.Gly27Asp)	ClinVar dbSNP gnomAD v4
2	g.219418542G>C	CA350682713	DES	c.80G>C (p.Gly27Ala)
2	g.219418542G=	CA1329209842	DES	c.80G= (p.Gly27=)
2	g.219418542G>T	CA350682715	DES	c.80G>T (p.Gly27Val)	gnomAD v4 COSMIC
2	g.219418543C>A	CA431427443	DES	c.81C>A (p.Gly27=)	gnomAD v4
2	g.219418543C=	CA1329209843	DES	c.81C= (p.Gly27=)
2	g.219418543C>G	CA431427444	DES	c.81C>G (p.Gly27=)
2	g.219418543C>T	CA431427445	DES	c.81C>T (p.Gly27=)	dbSNP gnomAD v4
2	g.219418544T>A	CA350682727	DES	c.82T>A (p.Ser28Thr)
2	g.219418544T>C	CA350682721	DES	c.82T>C (p.Ser28Pro)	gnomAD v4
2	g.219418544T>G	CA350682716	DES	c.82T>G (p.Ser28Ala)
2	g.219418545C>A	CA350682730	DES	c.83C>A (p.Ser28Tyr)	gnomAD v4
2	g.219418545C=	CA1329209844	DES	c.83C= (p.Ser28=)
2	g.219418545C>G	CA350682734	DES	c.83C>G (p.Ser28Cys)
2	g.219418545C>T	CA350682745	DES	c.83C>T (p.Ser28Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418546C>A	CA431427446	DES	c.84C>A (p.Ser28=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418546C=	CA1329209845	DES	c.84C= (p.Ser28=)
2	g.219418546C>G	CA431427448	DES	c.84C>G (p.Ser28=)
2	g.219418546C>T	CA431427447	DES	c.84C>T (p.Ser28=)
2	g.219418551_219418571del	CA2577252443	DES	c.89_109del (p.Leu30_Pro36del)	gnomAD v4
2	g.219418547C>A	CA350682746	DES	c.85C>A (p.Pro29Thr)	gnomAD v4
2	g.219418547C>G	CA350682747	DES	c.85C>G (p.Pro29Ala)
2	g.219418547C>T	CA350682748	DES	c.85C>T (p.Pro29Ser)	gnomAD v4
2	g.219418548C>A	CA350682753	DES	c.86C>A (p.Pro29Gln)	gnomAD v4
2	g.219418548C=	CA1329209846	DES	c.86C= (p.Pro29=)
2	g.219418548C>G	CA350682749	DES	c.86C>G (p.Pro29Arg)	ClinVar gnomAD v4
2	g.219418548C>T	CA350682752	DES	c.86C>T (p.Pro29Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418549G>A	CA431427449	DES	c.87G>A (p.Pro29=)	gnomAD v4
2	g.219418549G>C	CA431427450	DES	c.87G>C (p.Pro29=)	COSMIC
2	g.219418549G>T	CA431427451	DES	c.87G>T (p.Pro29=)	ClinVar dbSNP gnomAD v4
2	g.219418550C>A	CA350682763	DES	c.88C>A (p.Leu30Met)	gnomAD v4
2	g.219418550C=	CA1329209847	DES	c.88C= (p.Leu30=)
2	g.219418550C>G	CA350682771	DES	c.88C>G (p.Leu30Val)
2	g.219418550C>T	CA431427452	DES	c.88C>T (p.Leu30=)	ClinVar dbSNP
2	g.219418551T>A	CA350682797	DES	c.89T>A (p.Leu30Gln)
2	g.219418551T>C	CA350682800	DES	c.89T>C (p.Leu30Pro)	gnomAD v4
2	g.219418551T>G	CA350682802	DES	c.89T>G (p.Leu30Arg)
2	g.219418552G>A	CA431427453	DES	c.90G>A (p.Leu30=)
2	g.219418552G>C	CA431427454	DES	c.90G>C (p.Leu30=)
2	g.219418552G>T	CA431427455	DES	c.90G>T (p.Leu30=)
2	g.219418553A=	CA1329209848	DES	c.91A= (p.Ser31=)
2	g.219418553A>C	CA350682807	DES	c.91A>C (p.Ser31Arg)
2	g.219418553A>G	CA350682825	DES	c.91A>G (p.Ser31Gly)
2	g.219418553A>T	CA350682818	DES	c.91A>T (p.Ser31Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219418554G>A	CA65980645	DES	c.92G>A (p.Ser31Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.219418554G>C	CA350682830	DES	c.92G>C (p.Ser31Thr)
2	g.219418554G=	CA1329209849	DES	c.92G= (p.Ser31=)
2	g.219418554G>T	CA350682831	DES	c.92G>T (p.Ser31Ile)	gnomAD v4
2	g.219418554_219418555insC	CA1329209850	DES	c.92_93insC (p.Ser32PhefsTer12)	dbSNP
2	g.219418555T>A	CA350682844	DES	c.93T>A (p.Ser31Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.219418555T>C	CA282356	DES	c.93T>C (p.Ser31=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418555T>G	CA2125016	DES	c.93T>G (p.Ser31Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418555T=	CA180799	DES	c.93T= (p.Ser31=)
2	g.219418555_219418556insCGCCCCCCCGCTGAGC	CA1329209851	DES	c.93_94insCGCCCCCCCGCTGAGC (p.Ser32ArgfsTer17)	dbSNP
2	g.219418556T>A	CA350682857	DES	c.94T>A (p.Ser32Thr)
2	g.219418556T>C	CA350682858	DES	c.94T>C (p.Ser32Pro)
2	g.219418556T>G	CA350682859	DES	c.94T>G (p.Ser32Ala)
2	g.219418557C>A	CA350682866	DES	c.95C>A (p.Ser32Ter)	gnomAD v4
2	g.219418557C>G	CA350682863	DES	c.95C>G (p.Ser32Trp)
2	g.219418557C>T	CA350682860	DES	c.95C>T (p.Ser32Leu)	gnomAD v4
2	g.219418558G>A	CA431427456	DES	c.96G>A (p.Ser32=)	gnomAD v4
2	g.219418558G>C	CA431427457	DES	c.96G>C (p.Ser32=)	gnomAD v4
2	g.219418558G=	CA1329209852	DES	c.96G= (p.Ser32=)
2	g.219418558G>T	CA2125017	DES	c.96G>T (p.Ser32=)	dbSNP ExAC gnomAD v2
2	g.219418559C>A	CA350682868	DES	c.97C>A (p.Pro33Thr)
2	g.219418559C=	CA1329209853	DES	c.97C= (p.Pro33=)
2	g.219418559C>G	CA350682877	DES	c.97C>G (p.Pro33Ala)
2	g.219418559C>T	CA10604899	DES	c.97C>T (p.Pro33Ser)	ClinVar dbSNP
2	g.219418563_219418570dup	CA2663248924	DES	c.101_108dup (p.Arg37CysfsTer16)	gnomAD v4
2	g.219418560C>A	CA350682882	DES	c.98C>A (p.Pro33His)	gnomAD v4
2	g.219418560C>G	CA350682883	DES	c.98C>G (p.Pro33Arg)
2	g.219418560C>T	CA350682884	DES	c.98C>T (p.Pro33Leu)	gnomAD v4
2	g.219418561C>A	CA431427459	DES	c.99C>A (p.Pro33=)	gnomAD v4
2	g.219418561C=	CA1329209854	DES	c.99C= (p.Pro33=)
2	g.219418561C>G	CA431427460	DES	c.99C>G (p.Pro33=)	gnomAD v4
2	g.219418561C>T	CA2125018	DES	c.99C>T (p.Pro33=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418562G>A	CA2125019	DES	c.100G>A (p.Val34Met)	ClinVar dbSNP ExAC gnomAD v4
2	g.219418562G>C	CA350682888	DES	c.100G>C (p.Val34Leu)
2	g.219418562G=	CA1329209855	DES	c.100G= (p.Val34=)
2	g.219418562G>T	CA350682889	DES	c.100G>T (p.Val34Leu)	gnomAD v4
2	g.219418563T>A	CA350682891	DES	c.101T>A (p.Val34Glu)
2	g.219418563T>C	CA350682894	DES	c.101T>C (p.Val34Ala)
2	g.219418563T>G	CA350682902	DES	c.101T>G (p.Val34Gly)
2	g.219418564G>A	CA431427462	DES	c.102G>A (p.Val34=)
2	g.219418564G>C	CA431427463	DES	c.102G>C (p.Val34=)
2	g.219418564G>T	CA431427464	DES	c.102G>T (p.Val34=)
2	g.219418565T>A	CA350682909	DES	c.103T>A (p.Phe35Ile)	dbSNP gnomAD v3 gnomAD v4
2	g.219418565T>C	CA350682905	DES	c.103T>C (p.Phe35Leu)	ClinVar gnomAD v4
2	g.219418565T>G	CA350682907	DES	c.103T>G (p.Phe35Val)	gnomAD v3 gnomAD v4
2	g.219418566T>A	CA350682910	DES	c.104T>A (p.Phe35Tyr)
2	g.219418566T>C	CA350682911	DES	c.104T>C (p.Phe35Ser)	ClinVar dbSNP
2	g.219418566T>G	CA350682912	DES	c.104T>G (p.Phe35Cys)
2	g.219418566T=	CA1329209856	DES	c.104T= (p.Phe35=)
2	g.219418567C>A	CA2125020	DES	c.105C>A (p.Phe35Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418567C=	CA1329209857	DES	c.105C= (p.Phe35=)
2	g.219418567C>G	CA350682917	DES	c.105C>G (p.Phe35Leu)	ClinVar dbSNP
2	g.219418567C>T	CA431427466	DES	c.105C>T (p.Phe35=)
2	g.219418568C>A	CA350682925	DES	c.106C>A (p.Pro36Thr)	gnomAD v4
2	g.219418568C=	CA1329209858	DES	c.106C= (p.Pro36=)
2	g.219418568C>G	CA350682938	DES	c.106C>G (p.Pro36Ala)
2	g.219418568C>T	CA350682940	DES	c.106C>T (p.Pro36Ser)	ClinVar dbSNP gnomAD v4
2	g.219418569C>A	CA350682941	DES	c.107C>A (p.Pro36Gln)	gnomAD v4
2	g.219418569C=	CA1329209859	DES	c.107C= (p.Pro36=)
2	g.219418569C>G	CA2125021	DES	c.107C>G (p.Pro36Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418569C>T	CA350682942	DES	c.107C>T (p.Pro36Leu)	gnomAD v4 COSMIC
2	g.219418570G>A	CA431427469	DES	c.108G>A (p.Pro36=)	dbSNP gnomAD v4
2	g.219418570G>C	CA431427470	DES	c.108G>C (p.Pro36=)
2	g.219418570G=	CA1329209860	DES	c.108G= (p.Pro36=)
2	g.219418570G>T	CA431427472	DES	c.108G>T (p.Pro36=)	dbSNP gnomAD v4
2	g.219418571C>A	CA431427474	DES	c.109C>A (p.Arg37=)	ClinVar gnomAD v4
2	g.219418571C=	CA1329209861	DES	c.109C= (p.Arg37=)
2	g.219418571C>G	CA2125023	DES	c.109C>G (p.Arg37Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418571C>T	CA2125022	DES	c.109C>T (p.Arg37Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418572G>A	CA350682943	DES	c.110G>A (p.Arg37Gln)
2	g.219418572G>C	CA350682945	DES	c.110G>C (p.Arg37Pro)
2	g.219418572G=	CA1329209862	DES	c.110G= (p.Arg37=)
2	g.219418572G>T	CA350682944	DES	c.110G>T (p.Arg37Leu)	ClinVar dbSNP gnomAD v4
2	g.219418574del	CA2573135505	DES	c.112del (p.Ala38ArgfsTer12)	ClinVar dbSNP gnomAD v4
2	g.219418573G>A	CA2125024	DES	c.111G>A (p.Arg37=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418573G>C	CA431427477	DES	c.111G>C (p.Arg37=)	dbSNP
2	g.219418573G=	CA1329209863	DES	c.111G= (p.Arg37=)
2	g.219418573G>T	CA431427479	DES	c.111G>T (p.Arg37=)	gnomAD v4
2	g.219418574G>A	CA2125025	DES	c.112G>A (p.Ala38Thr)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219418574G>C	CA350682963	DES	c.112G>C (p.Ala38Pro)
2	g.219418574G=	CA1329209864	DES	c.112G= (p.Ala38=)
2	g.219418574G>T	CA350682964	DES	c.112G>T (p.Ala38Ser)	gnomAD v4
2	g.219418575C>A	CA2125026	DES	c.113C>A (p.Ala38Glu)	dbSNP ExAC gnomAD v4
2	g.219418575C=	CA1329209865	DES	c.113C= (p.Ala38=)
2	g.219418575C>G	CA350682968	DES	c.113C>G (p.Ala38Gly)
2	g.219418575C>T	CA350682975	DES	c.113C>T (p.Ala38Val)	gnomAD v4
2	g.219418576G>A	CA233898	DES	c.114G>A (p.Ala38=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418576G>C	CA431427481	DES	c.114G>C (p.Ala38=)	gnomAD v4
2	g.219418576G=	CA1329209866	DES	c.114G= (p.Ala38=)
2	g.219418576G>T	CA133814	DES	c.114G>T (p.Ala38=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418577G>A	CA2125027	DES	c.115G>A (p.Gly39Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418577G>C	CA350682986	DES	c.115G>C (p.Gly39Arg)
2	g.219418577G=	CA1329209867	DES	c.115G= (p.Gly39=)
2	g.219418577G>T	CA350682989	DES	c.115G>T (p.Gly39Cys)	gnomAD v4
2	g.219418578G>A	CA2125028	DES	c.116G>A (p.Gly39Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418578G>C	CA350682993	DES	c.116G>C (p.Gly39Ala)	dbSNP
2	g.219418578G=	CA1329209868	DES	c.116G= (p.Gly39=)
2	g.219418578G>T	CA350682996	DES	c.116G>T (p.Gly39Val)
2	g.219418579T>A	CA431427486	DES	c.117T>A (p.Gly39=)
2	g.219418579T>C	CA431427485	DES	c.117T>C (p.Gly39=)	dbSNP
2	g.219418579T>G	CA65980740	DES	c.117T>G (p.Gly39=)	ClinVar dbSNP gnomAD v4
2	g.219418579T=	CA1329209869	DES	c.117T= (p.Gly39=)
2	g.219418581dup	CA2740096471	DES	c.119dup (p.Gly41ArgfsTer3)	ClinVar
2	g.219418580T>A	CA350683009	DES	c.118T>A (p.Phe40Ile)
2	g.219418580T>C	CA350683012	DES	c.118T>C (p.Phe40Leu)	gnomAD v4
2	g.219418580T>G	CA350683017	DES	c.118T>G (p.Phe40Val)
2	g.219418581T>A	CA350683023	DES	c.119T>A (p.Phe40Tyr)
2	g.219418581T>C	CA350683030	DES	c.119T>C (p.Phe40Ser)	ClinVar
2	g.219418581T>G	CA350683032	DES	c.119T>G (p.Phe40Cys)	gnomAD v4
2	g.219418582C>A	CA350683044	DES	c.120C>A (p.Phe40Leu)
2	g.219418582C=	CA1329209870	DES	c.120C= (p.Phe40=)
2	g.219418582C>G	CA350683046	DES	c.120C>G (p.Phe40Leu)
2	g.219418582C>T	CA431427491	DES	c.120C>T (p.Phe40=)	ClinVar dbSNP gnomAD v4
2	g.219418583G>A	CA2125029	DES	c.121G>A (p.Gly41Ser)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219418583G>C	CA350683078	DES	c.121G>C (p.Gly41Arg)
2	g.219418583G=	CA1329209871	DES	c.121G= (p.Gly41=)
2	g.219418583G>T	CA350683080	DES	c.121G>T (p.Gly41Cys)	gnomAD v4
2	g.219418584del	CA2663249032	DES	c.122del (p.Gly41AlafsTer9)	gnomAD v4
2	g.219418584G>A	CA350683093	DES	c.122G>A (p.Gly41Asp)	gnomAD v4
2	g.219418584G>C	CA350683104	DES	c.122G>C (p.Gly41Ala)
2	g.219418584G>T	CA350683086	DES	c.122G>T (p.Gly41Val)	gnomAD v4 COSMIC
2	g.219418585C>A	CA431427492	DES	c.123C>A (p.Gly41=)
2	g.219418585C=	CA1329209872	DES	c.123C= (p.Gly41=)
2	g.219418585C>G	CA431427493	DES	c.123C>G (p.Gly41=)
2	g.219418585C>T	CA431427494	DES	c.123C>T (p.Gly41=)	ClinVar dbSNP gnomAD v4
2	g.219418586T>A	CA350683108	DES	c.124T>A (p.Ser42Thr)	dbSNP
2	g.219418586T>C	CA350683112	DES	c.124T>C (p.Ser42Pro)	gnomAD v4
2	g.219418586T>G	CA350683111	DES	c.124T>G (p.Ser42Ala)
2	g.219418586T=	CA1329209873	DES	c.124T= (p.Ser42=)
2	g.219418587C>A	CA65980741	DES	c.125C>A (p.Ser42Tyr)	dbSNP gnomAD v4 COSMIC
2	g.219418587C=	CA1329209874	DES	c.125C= (p.Ser42=)
2	g.219418587C>G	CA350683123	DES	c.125C>G (p.Ser42Cys)
2	g.219418587C>T	CA350683119	DES	c.125C>T (p.Ser42Phe)	gnomAD v4
2	g.219418588T>A	CA431427500	DES	c.126T>A (p.Ser42=)
2	g.219418588T>C	CA431427501	DES	c.126T>C (p.Ser42=)	dbSNP gnomAD v4
2	g.219418588T>G	CA431427502	DES	c.126T>G (p.Ser42=)
2	g.219418588T=	CA1329209875	DES	c.126T= (p.Ser42=)
2	g.219418589A=	CA1329209876	DES	c.127A= (p.Lys43=)
2	g.219418589A>C	CA350683128	DES	c.127A>C (p.Lys43Gln)
2	g.219418589A>G	CA133823	DES	c.127A>G (p.Lys43Glu)	ClinVar dbSNP
2	g.219418589A>T	CA350683130	DES	c.127A>T (p.Lys43Ter)
2	g.219418590del	CA2663249055	DES	c.128del (p.Lys43ArgfsTer7)	gnomAD v4
2	g.219418590A>C	CA350683135	DES	c.128A>C (p.Lys43Thr)
2	g.219418590A>G	CA350683137	DES	c.128A>G (p.Lys43Arg)	gnomAD v4
2	g.219418590A>T	CA350683136	DES	c.128A>T (p.Lys43Met)
2	g.219418591G>A	CA431427504	DES	c.129G>A (p.Lys43=)
2	g.219418591G>C	CA350683138	DES	c.129G>C (p.Lys43Asn)
2	g.219418591G>T	CA350683142	DES	c.129G>T (p.Lys43Asn)	gnomAD v4
2	g.219418592G>A	CA16617477	DES	c.130G>A (p.Gly44Ser)	ClinVar dbSNP gnomAD v4
2	g.219418592G>C	CA350683162	DES	c.130G>C (p.Gly44Arg)
2	g.219418592G=	CA1329209877	DES	c.130G= (p.Gly44=)
2	g.219418592G>T	CA350683170	DES	c.130G>T (p.Gly44Cys)	gnomAD v4
2	g.219418593G>A	CA350683178	DES	c.131G>A (p.Gly44Asp)	dbSNP gnomAD v3 gnomAD v4
2	g.219418593G>C	CA350683184	DES	c.131G>C (p.Gly44Ala)
2	g.219418593G=	CA1329209878	DES	c.131G= (p.Gly44=)
2	g.219418593G>T	CA350683193	DES	c.131G>T (p.Gly44Val)	ClinVar dbSNP gnomAD v4
2	g.219418594C>A	CA2125031	DES	c.132C>A (p.Gly44=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418594C=	CA1329209879	DES	c.132C= (p.Gly44=)
2	g.219418594C>G	CA431427506	DES	c.132C>G (p.Gly44=)
2	g.219418594C>T	CA2125030	DES	c.132C>T (p.Gly44=)	dbSNP ExAC gnomAD v2
2	g.219418595T>A	CA350683210	DES	c.133T>A (p.Ser45Thr)
2	g.219418595T>C	CA350683201	DES	c.133T>C (p.Ser45Pro)
2	g.219418595T>G	CA350683203	DES	c.133T>G (p.Ser45Ala)
2	g.219418596C>A	CA350683216	DES	c.134C>A (p.Ser45Tyr)	gnomAD v4
2	g.219418596C=	CA1329209880	DES	c.134C= (p.Ser45=)
2	g.219418596C>G	CA350683219	DES	c.134C>G (p.Ser45Cys)
2	g.219418596C>T	CA350683243	DES	c.134C>T (p.Ser45Phe)	dbSNP
2	g.219418597C>A	CA431427509	DES	c.135C>A (p.Ser45=)
2	g.219418597C=	CA1329209881	DES	c.135C= (p.Ser45=)
2	g.219418597C>G	CA431427510	DES	c.135C>G (p.Ser45=)	gnomAD v4
2	g.219418597C>T	CA431427512	DES	c.135C>T (p.Ser45=)	dbSNP gnomAD v4
2	g.219418598T>A	CA350683250	DES	c.136T>A (p.Ser46Thr)
2	g.219418598T>C	CA350683255	DES	c.136T>C (p.Ser46Pro)
2	g.219418598T>G	CA350683259	DES	c.136T>G (p.Ser46Ala)
2	g.219418599C>A	CA217053	DES	c.137C>A (p.Ser46Tyr)	ClinVar dbSNP gnomAD v4
2	g.219418599C=	CA1329209882	DES	c.137C= (p.Ser46=)
2	g.219418599C>G	CA350683275	DES	c.137C>G (p.Ser46Cys)	dbSNP gnomAD v4
2	g.219418599C>T	CA217055	DES	c.137C>T (p.Ser46Phe)	ClinVar dbSNP
2	g.219418600C>A	CA431427515	DES	c.138C>A (p.Ser46=)	ClinVar gnomAD v4
2	g.219418600C=	CA1329209883	DES	c.138C= (p.Ser46=)
2	g.219418600C>G	CA431427517	DES	c.138C>G (p.Ser46=)	dbSNP
2	g.219418600C>T	CA431427519	DES	c.138C>T (p.Ser46=)
2	g.219418601A=	CA1329209884	DES	c.139A= (p.Ser47=)
2	g.219418601A>C	CA350683288	DES	c.139A>C (p.Ser47Arg)
2	g.219418601A>G	CA65980788	DES	c.139A>G (p.Ser47Gly)	dbSNP
2	g.219418601A>T	CA350683283	DES	c.139A>T (p.Ser47Cys)
2	g.219418602G>A	CA350683303	DES	c.140G>A (p.Ser47Asn)
2	g.219418602G>C	CA350683309	DES	c.140G>C (p.Ser47Thr)
2	g.219418602G>T	CA350683312	DES	c.140G>T (p.Ser47Ile)	ClinVar dbSNP
2	g.219418603C>A	CA2125032	DES	c.141C>A (p.Ser47Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418603C=	CA1329209885	DES	c.141C= (p.Ser47=)
2	g.219418603C>G	CA350683339	DES	c.141C>G (p.Ser47Arg)
2	g.219418603C>T	CA431427524	DES	c.141C>T (p.Ser47=)
2	g.219418604T>A	CA350683344	DES	c.142T>A (p.Ser48Thr)
2	g.219418604T>C	CA350683347	DES	c.142T>C (p.Ser48Pro)
2	g.219418604T>G	CA350683348	DES	c.142T>G (p.Ser48Ala)
2	g.219418604_219418608del	CA2663249089	DES	c.142_146del (p.Ser48AspfsTer?)	gnomAD v4
2	g.219418605C>A	CA350683352	DES	c.143C>A (p.Ser48Ter)	gnomAD v4
2	g.219418605C>G	CA350683353	DES	c.143C>G (p.Ser48Trp)
2	g.219418605C>T	CA350683357	DES	c.143C>T (p.Ser48Leu)	gnomAD v4
2	g.219418606G>A	CA431427528	DES	c.144G>A (p.Ser48=)	ClinVar dbSNP gnomAD v4
2	g.219418606G>C	CA431427530	DES	c.144G>C (p.Ser48=)
2	g.219418606G=	CA1329209886	DES	c.144G= (p.Ser48=)
2	g.219418606G>T	CA431427531	DES	c.144G>T (p.Ser48=)	gnomAD v4
2	g.219418607G>A	CA350683367	DES	c.145G>A (p.Val49Met)	dbSNP gnomAD v2 gnomAD v4
2	g.219418607G>C	CA350683360	DES	c.145G>C (p.Val49Leu)
2	g.219418607G=	CA1329209887	DES	c.145G= (p.Val49=)
2	g.219418607G>T	CA350683362	DES	c.145G>T (p.Val49Leu)
2	g.219418608T>A	CA350683373	DES	c.146T>A (p.Val49Glu)
2	g.219418608T>C	CA308287	DES	c.146T>C (p.Val49Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418608T>G	CA350683393	DES	c.146T>G (p.Val49Gly)
2	g.219418608T=	CA1329209888	DES	c.146T= (p.Val49=)
2	g.219418609G>A	CA431427534	DES	c.147G>A (p.Val49=)
2	g.219418609G>C	CA431427537	DES	c.147G>C (p.Val49=)	gnomAD v4
2	g.219418609G>T	CA431427536	DES	c.147G>T (p.Val49=)
2	g.219418610A=	CA1329209889	DES	c.148A= (p.Thr50=)
2	g.219418610A>C	CA350683394	DES	c.148A>C (p.Thr50Pro)
2	g.219418610A>G	CA350683395	DES	c.148A>G (p.Thr50Ala)
2	g.219418610A>T	CA2125033	DES	c.148A>T (p.Thr50Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418611C>A	CA350683396	DES	c.149C>A (p.Thr50Lys)	gnomAD v4
2	g.219418611C>G	CA350683397	DES	c.149C>G (p.Thr50Arg)
2	g.219418611C>T	CA350683398	DES	c.149C>T (p.Thr50Met)	gnomAD v4
2	g.219418612G>A	CA431427539	DES	c.150G>A (p.Thr50=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418612G>C	CA431427540	DES	c.150G>C (p.Thr50=)
2	g.219418612G=	CA1329209890	DES	c.150G= (p.Thr50=)
2	g.219418612G>T	CA431427542	DES	c.150G>T (p.Thr50=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418613T>A	CA350683400	DES	c.151T>A (p.Ser51Thr)
2	g.219418613T>C	CA350683402	DES	c.151T>C (p.Ser51Pro)
2	g.219418613T>G	CA350683403	DES	c.151T>G (p.Ser51Ala)
2	g.219418614C>A	CA350683415	DES	c.152C>A (p.Ser51Tyr)
2	g.219418614C>G	CA350683418	DES	c.152C>G (p.Ser51Cys)
2	g.219418614C>T	CA350683406	DES	c.152C>T (p.Ser51Phe)
2	g.219418615C>A	CA431427548	DES	c.153C>A (p.Ser51=)	gnomAD v4
2	g.219418615C>G	CA431427550	DES	c.153C>G (p.Ser51=)
2	g.219418615C>T	CA431427549	DES	c.153C>T (p.Ser51=)
2	g.219418616C>A	CA308290	DES	c.154C>A (p.Arg52Ser)	ClinVar dbSNP gnomAD v4
2	g.219418616C=	CA1329209891	DES	c.154C= (p.Arg52=)
2	g.219418616C>G	CA350683421	DES	c.154C>G (p.Arg52Gly)
2	g.219418616C>T	CA350683424	DES	c.154C>T (p.Arg52Cys)	gnomAD v3 gnomAD v4
2	g.219418617G>A	CA350683426	DES	c.155G>A (p.Arg52His)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219418617G>C	CA350683428	DES	c.155G>C (p.Arg52Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418617G=	CA1329209892	DES	c.155G= (p.Arg52=)
2	g.219418617G>T	CA350683437	DES	c.155G>T (p.Arg52Leu)	gnomAD v4
2	g.219418618C>A	CA431427553	DES	c.156C>A (p.Arg52=)	gnomAD v4
2	g.219418618C>G	CA431427554	DES	c.156C>G (p.Arg52=)
2	g.219418618C>T	CA431427555	DES	c.156C>T (p.Arg52=)	ClinVar gnomAD v4
2	g.219418619G>A	CA350683452	DES	c.157G>A (p.Val53Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219418619G>C	CA350683447	DES	c.157G>C (p.Val53Leu)
2	g.219418619G=	CA1329209893	DES	c.157G= (p.Val53=)
2	g.219418619G>T	CA350683443	DES	c.157G>T (p.Val53Leu)	ClinVar dbSNP gnomAD v4
2	g.219418620T>A	CA350683457	DES	c.158T>A (p.Val53Glu)
2	g.219418620T>C	CA350683459	DES	c.158T>C (p.Val53Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.219418620T>G	CA350683472	DES	c.158T>G (p.Val53Gly)
2	g.219418620T=	CA1329209894	DES	c.158T= (p.Val53=)
2	g.219418621G>A	CA431427564	DES	c.159G>A (p.Val53=)	gnomAD v4
2	g.219418621G>C	CA431427565	DES	c.159G>C (p.Val53=)	gnomAD v4
2	g.219418621G=	CA1329209895	DES	c.159G= (p.Val53=)
2	g.219418621G>T	CA431427566	DES	c.159G>T (p.Val53=)	dbSNP gnomAD v2 gnomAD v4
2	g.219418622T>A	CA350683476	DES	c.160T>A (p.Tyr54Asn)
2	g.219418622T>C	CA350683483	DES	c.160T>C (p.Tyr54His)
2	g.219418622T>G	CA350683486	DES	c.160T>G (p.Tyr54Asp)
2	g.219418623A>C	CA350683492	DES	c.161A>C (p.Tyr54Ser)
2	g.219418623A>G	CA350683501	DES	c.161A>G (p.Tyr54Cys)
2	g.219418623A>T	CA350683495	DES	c.161A>T (p.Tyr54Phe)
2	g.219418624C>A	CA350683505	DES	c.162C>A (p.Tyr54Ter)	dbSNP gnomAD v4
2	g.219418624C=	CA1329209896	DES	c.162C= (p.Tyr54=)
2	g.219418624C>G	CA16616729	DES	c.162C>G (p.Tyr54Ter)	gnomAD v4
2	g.219418624C>T	CA431427569	DES	c.162C>T (p.Tyr54=)
2	g.219418625C>A	CA350683509	DES	c.163C>A (p.Gln55Lys)	dbSNP gnomAD v4
2	g.219418625C=	CA1329209897	DES	c.163C= (p.Gln55=)
2	g.219418625C>G	CA350683511	DES	c.163C>G (p.Gln55Glu)
2	g.219418625C>T	CA350683513	DES	c.163C>T (p.Gln55Ter)	ClinVar gnomAD v4
2	g.219418626A>C	CA350683515	DES	c.164A>C (p.Gln55Pro)
2	g.219418626A>G	CA350683520	DES	c.164A>G (p.Gln55Arg)
2	g.219418626A>T	CA350683524	DES	c.164A>T (p.Gln55Leu)	ClinVar gnomAD v4
2	g.219418627G>A	CA431427574	DES	c.165G>A (p.Gln55=)	dbSNP
2	g.219418627G>C	CA350683526	DES	c.165G>C (p.Gln55His)	dbSNP gnomAD v2 gnomAD v4
2	g.219418627G=	CA1329209898	DES	c.165G= (p.Gln55=)
2	g.219418627G>T	CA350683529	DES	c.165G>T (p.Gln55His)	gnomAD v4
2	g.219418628G>A	CA350683538	DES	c.166G>A (p.Val56Met)
2	g.219418628G>C	CA308293	DES	c.166G>C (p.Val56Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418628G=	CA1329209899	DES	c.166G= (p.Val56=)
2	g.219418628G>T	CA350683533	DES	c.166G>T (p.Val56Leu)	ClinVar gnomAD v4
2	g.219418629T>A	CA350683551	DES	c.167T>A (p.Val56Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418629T>C	CA350683554	DES	c.167T>C (p.Val56Ala)	gnomAD v4
2	g.219418629T>G	CA350683560	DES	c.167T>G (p.Val56Gly)
2	g.219418629T=	CA1329209900	DES	c.167T= (p.Val56=)
2	g.219418630G>A	CA2125034	DES	c.168G>A (p.Val56=)	dbSNP ExAC gnomAD v4
2	g.219418630G>C	CA431427581	DES	c.168G>C (p.Val56=)
2	g.219418630G=	CA1329209901	DES	c.168G= (p.Val56=)
2	g.219418630G>T	CA431427583	DES	c.168G>T (p.Val56=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418631T>A	CA350683564	DES	c.169T>A (p.Ser57Thr)
2	g.219418631T>C	CA350683565	DES	c.169T>C (p.Ser57Pro)	gnomAD v4
2	g.219418631T>G	CA350683573	DES	c.169T>G (p.Ser57Ala)
2	g.219418632C>A	CA350683578	DES	c.170C>A (p.Ser57Ter)
2	g.219418632C=	CA1329209902	DES	c.170C= (p.Ser57=)
2	g.219418632C>G	CA350683579	DES	c.170C>G (p.Ser57Trp)	dbSNP
2	g.219418632C>T	CA133832	DES	c.170C>T (p.Ser57Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418633G>A	CA431427592	DES	c.171G>A (p.Ser57=)	gnomAD v4
2	g.219418633G>C	CA431427594	DES	c.171G>C (p.Ser57=)	dbSNP
2	g.219418633G=	CA1329209903	DES	c.171G= (p.Ser57=)
2	g.219418633G>T	CA431427595	DES	c.171G>T (p.Ser57=)	ClinVar gnomAD v4
2	g.219418633dup	CA2586971376	DES	c.171dup (p.Arg58AlafsTer?)
2	g.219418634C>A	CA350683594	DES	c.172C>A (p.Arg58Ser)	gnomAD v4
2	g.219418634C>G	CA350683605	DES	c.172C>G (p.Arg58Gly)
2	g.219418634C>T	CA350683608	DES	c.172C>T (p.Arg58Cys)	ClinVar gnomAD v4
2	g.219418635G>A	CA350683633	DES	c.173G>A (p.Arg58His)	gnomAD v4
2	g.219418635G>C	CA350683613	DES	c.173G>C (p.Arg58Pro)
2	g.219418635G>T	CA350683631	DES	c.173G>T (p.Arg58Leu)	ClinVar gnomAD v4 COSMIC
2	g.219418636C>A	CA431427609	DES	c.174C>A (p.Arg58=)	gnomAD v4
2	g.219418636C>G	CA431427612	DES	c.174C>G (p.Arg58=)
2	g.219418636C>T	CA431427614	DES	c.174C>T (p.Arg58=)
2	g.219418637A=	CA1329209904	DES	c.175A= (p.Thr59=)
2	g.219418637A>C	CA350683637	DES	c.175A>C (p.Thr59Pro)
2	g.219418637A>G	CA350683641	DES	c.175A>G (p.Thr59Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418637A>T	CA350683643	DES	c.175A>T (p.Thr59Ser)

Number of alleles fetched