Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219060219G>A	CA431419926	IHH	c.249C>T (p.Pro83=)
2	g.219060219G>C	CA431419927	IHH	c.249C>G (p.Pro83=)
2	g.219060219G>T	CA431419929	IHH	c.249C>A (p.Pro83=)
2	g.219060223dup	CA2116744	IHH	c.249dup (p.Asn84GlnfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060223del	CA2577248565	IHH	c.249del (p.Asn84IlefsTer20)
2	g.219060220G>A	CA65951248	IHH	c.248C>T (p.Pro83Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.219060220G>C	CA350636840	IHH	c.248C>G (p.Pro83Arg)
2	g.219060220G=	CA1329042595	IHH	c.248C= (p.Pro83=)
2	g.219060220G>T	CA350636841	IHH	c.248C>A (p.Pro83His)
2	g.219060221G>A	CA350636844	IHH	c.247C>T (p.Pro83Ser)	gnomAD v4
2	g.219060221G>C	CA350636842	IHH	c.247C>G (p.Pro83Ala)
2	g.219060221G>T	CA350636843	IHH	c.247C>A (p.Pro83Thr)	COSMIC
2	g.219060222G>A	CA431419932	IHH	c.246C>T (p.Thr82=)	dbSNP gnomAD v4
2	g.219060222G>C	CA431419933	IHH	c.246C>G (p.Thr82=)
2	g.219060222G=	CA1329042596	IHH	c.246C= (p.Thr82=)
2	g.219060222G>T	CA431419934	IHH	c.246C>A (p.Thr82=)
2	g.219060223G>A	CA2116745	IHH	c.245C>T (p.Thr82Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060223G>C	CA350636846	IHH	c.245C>G (p.Thr82Ser)
2	g.219060223G=	CA1329042597	IHH	c.245C= (p.Thr82=)
2	g.219060223G>T	CA350636848	IHH	c.245C>A (p.Thr82Asn)
2	g.219060224T>A	CA350636849	IHH	c.244A>T (p.Thr82Ser)
2	g.219060224T>C	CA2116746	IHH	c.244A>G (p.Thr82Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060224T>G	CA350636850	IHH	c.244A>C (p.Thr82Pro)
2	g.219060224T=	CA1329042598	IHH	c.244A= (p.Thr82=)
2	g.219060225G>A	CA431419939	IHH	c.243C>T (p.Leu81=)	gnomAD v4
2	g.219060225G>C	CA431419943	IHH	c.243C>G (p.Leu81=)
2	g.219060225G>T	CA431419941	IHH	c.243C>A (p.Leu81=)
2	g.219060226A>C	CA350636852	IHH	c.242T>G (p.Leu81Arg)
2	g.219060226A>G	CA350636854	IHH	c.242T>C (p.Leu81Pro)
2	g.219060226A>T	CA350636855	IHH	c.242T>A (p.Leu81His)
2	g.219060227G>A	CA350636857	IHH	c.241C>T (p.Leu81Phe)	gnomAD v4
2	g.219060227G>C	CA350636858	IHH	c.241C>G (p.Leu81Val)
2	g.219060227G>T	CA350636859	IHH	c.241C>A (p.Leu81Ile)
2	g.219060228C>A	CA350636861	IHH	c.240G>T (p.Glu80Asp)
2	g.219060228C=	CA1329042599	IHH	c.240G= (p.Glu80=)
2	g.219060228C>G	CA350636863	IHH	c.240G>C (p.Glu80Asp)
2	g.219060228C>T	CA431419947	IHH	c.240G>A (p.Glu80=)	dbSNP gnomAD v3 gnomAD v4
2	g.219060229T>A	CA350636865	IHH	c.239A>T (p.Glu80Val)
2	g.219060229T>C	CA350636866	IHH	c.239A>G (p.Glu80Gly)
2	g.219060229T>G	CA350636868	IHH	c.239A>C (p.Glu80Ala)
2	g.219060230C>A	CA350636870	IHH	c.238G>T (p.Glu80Ter)
2	g.219060230C=	CA1329042600	IHH	c.238G= (p.Glu80=)
2	g.219060230C>G	CA350636871	IHH	c.238G>C (p.Glu80Gln)
2	g.219060230C>T	CA350636873	IHH	c.238G>A (p.Glu80Lys)	dbSNP COSMIC
2	g.219060231C>A	CA350636875	IHH	c.237G>T (p.Lys79Asn)	dbSNP gnomAD v2 gnomAD v4
2	g.219060231C=	CA1329042601	IHH	c.237G= (p.Lys79=)
2	g.219060231C>G	CA2116747	IHH	c.237G>C (p.Lys79Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060231C>T	CA431419954	IHH	c.237G>A (p.Lys79=)
2	g.219060232T>A	CA350636877	IHH	c.236A>T (p.Lys79Met)	dbSNP
2	g.219060232T>C	CA350636879	IHH	c.236A>G (p.Lys79Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.219060232T>G	CA350636881	IHH	c.236A>C (p.Lys79Thr)
2	g.219060232T=	CA1329042602	IHH	c.236A= (p.Lys79=)
2	g.219060233T>A	CA350636882	IHH	c.235A>T (p.Lys79Ter)
2	g.219060233T>C	CA350636884	IHH	c.235A>G (p.Lys79Glu)	dbSNP
2	g.219060233T>G	CA350636885	IHH	c.235A>C (p.Lys79Gln)
2	g.219060233T=	CA1329042603	IHH	c.235A= (p.Lys79=)
2	g.219060234G>A	CA431419957	IHH	c.234C>T (p.Phe78=)
2	g.219060234G>C	CA350636887	IHH	c.234C>G (p.Phe78Leu)
2	g.219060234G>T	CA350636886	IHH	c.234C>A (p.Phe78Leu)
2	g.219060235A>C	CA350636888	IHH	c.233T>G (p.Phe78Cys)
2	g.219060235A>G	CA350636890	IHH	c.233T>C (p.Phe78Ser)
2	g.219060235A>T	CA350636892	IHH	c.233T>A (p.Phe78Tyr)
2	g.219060236A>C	CA350636893	IHH	c.232T>G (p.Phe78Val)
2	g.219060236A>G	CA350636894	IHH	c.232T>C (p.Phe78Leu)
2	g.219060236A>T	CA350636896	IHH	c.232T>A (p.Phe78Ile)
2	g.219060237G>A	CA431419962	IHH	c.231C>T (p.Arg77=)	gnomAD v4
2	g.219060237G>C	CA431419964	IHH	c.231C>G (p.Arg77=)
2	g.219060237G>T	CA431419968	IHH	c.231C>A (p.Arg77=)
2	g.219060238C>A	CA350636898	IHH	c.230G>T (p.Arg77Leu)
2	g.219060238C>G	CA350636900	IHH	c.230G>C (p.Arg77Pro)
2	g.219060238C>T	CA350636901	IHH	c.230G>A (p.Arg77His)
2	g.219060239G>A	CA350636902	IHH	c.229C>T (p.Arg77Cys)
2	g.219060239G>C	CA350636904	IHH	c.229C>G (p.Arg77Gly)
2	g.219060239G=	CA1329042604	IHH	c.229C= (p.Arg77=)
2	g.219060239G>T	CA2116748	IHH	c.229C>A (p.Arg77Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060239_219060240delinsGC	CA1329042605	IHH	c.228_229delinsGC (p.Glu76=)
2	g.219060239_219060240delinsTT	CA10605437	IHH	c.228_229delinsAA (p.Arg77Ser)	ClinVar dbSNP
2	g.219060240C>A	CA350636908	IHH	c.228G>T (p.Glu76Asp)
2	g.219060240C=	CA1329042606	IHH	c.228G= (p.Glu76=)
2	g.219060240C>G	CA350636910	IHH	c.228G>C (p.Glu76Asp)
2	g.219060240C>T	CA2116749	IHH	c.228G>A (p.Glu76=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060241T>A	CA350636912	IHH	c.227A>T (p.Glu76Val)
2	g.219060241T>C	CA350636913	IHH	c.227A>G (p.Glu76Gly)
2	g.219060241T>G	CA2116750	IHH	c.227A>C (p.Glu76Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060241T=	CA1329042607	IHH	c.227A= (p.Glu76=)
2	g.219060242C>A	CA350636914	IHH	c.226G>T (p.Glu76Ter)
2	g.219060242C>G	CA350636916	IHH	c.226G>C (p.Glu76Gln)	gnomAD v4
2	g.219060242C>T	CA350636918	IHH	c.226G>A (p.Glu76Lys)
2	g.219060243G>A	CA431419996	IHH	c.225C>T (p.Ser75=)	dbSNP
2	g.219060243G>C	CA2116751	IHH	c.225C>G (p.Ser75=)	dbSNP ExAC gnomAD v4
2	g.219060243G=	CA1329042608	IHH	c.225C= (p.Ser75=)
2	g.219060243G>T	CA431419998	IHH	c.225C>A (p.Ser75=)
2	g.219060244G>A	CA350636921	IHH	c.224C>T (p.Ser75Phe)
2	g.219060244G>C	CA350636922	IHH	c.224C>G (p.Ser75Cys)
2	g.219060244G>T	CA350636923	IHH	c.224C>A (p.Ser75Tyr)
2	g.219060245A>C	CA350636924	IHH	c.223T>G (p.Ser75Ala)
2	g.219060245A>G	CA350636926	IHH	c.223T>C (p.Ser75Pro)
2	g.219060245A>T	CA350636928	IHH	c.223T>A (p.Ser75Thr)
2	g.219060246G>A	CA431420008	IHH	c.222C>T (p.Ser74=)
2	g.219060246G>C	CA350636930	IHH	c.222C>G (p.Ser74Arg)
2	g.219060246G>T	CA350636931	IHH	c.222C>A (p.Ser74Arg)
2	g.219060247C>A	CA350636933	IHH	c.221G>T (p.Ser74Ile)
2	g.219060247C>G	CA350636935	IHH	c.221G>C (p.Ser74Thr)
2	g.219060247C>T	CA350636936	IHH	c.221G>A (p.Ser74Asn)
2	g.219060248T>A	CA350636938	IHH	c.220A>T (p.Ser74Cys)
2	g.219060248T>C	CA350636939	IHH	c.220A>G (p.Ser74Gly)	gnomAD v4
2	g.219060248T>G	CA350636941	IHH	c.220A>C (p.Ser74Arg)
2	g.219060248_219060249del	CA2754315634	IHH	c.219_220del (p.Ser74LeufsTer?)
2	g.219060249G>A	CA431420026	IHH	c.219C>T (p.Arg73=)
2	g.219060249G>C	CA431420029	IHH	c.219C>G (p.Arg73=)
2	g.219060249G>T	CA431420032	IHH	c.219C>A (p.Arg73=)
2	g.219060250C>A	CA350636943	IHH	c.218G>T (p.Arg73Leu)
2	g.219060250C>G	CA350636944	IHH	c.218G>C (p.Arg73Pro)
2	g.219060250C>T	CA350636945	IHH	c.218G>A (p.Arg73His)	COSMIC
2	g.219060250_219060251delinsCG	CA1329042609	IHH	c.217_218delinsCG (p.Arg73=)
2	g.219060251del	CA1329042610	IHH	c.217del (p.Arg73AlafsTer?)	dbSNP
2	g.219060251G>A	CA350636947	IHH	c.217C>T (p.Arg73Cys)	ClinVar dbSNP
2	g.219060251G>C	CA350636949	IHH	c.217C>G (p.Arg73Gly)	gnomAD v4
2	g.219060251G>T	CA350636950	IHH	c.217C>A (p.Arg73Ser)
2	g.219060252A>C	CA431420039	IHH	c.216T>G (p.Ala72=)
2	g.219060252A>G	CA431420041	IHH	c.216T>C (p.Ala72=)
2	g.219060252A>T	CA431420044	IHH	c.216T>A (p.Ala72=)
2	g.219060253G>A	CA65951277	IHH	c.215C>T (p.Ala72Val)	ClinVar dbSNP gnomAD v4
2	g.219060253G>C	CA350636954	IHH	c.215C>G (p.Ala72Gly)
2	g.219060253G=	CA1329042611	IHH	c.215C= (p.Ala72=)
2	g.219060253G>T	CA350636952	IHH	c.215C>A (p.Ala72Asp)
2	g.219060254C>A	CA350636957	IHH	c.214G>T (p.Ala72Ser)
2	g.219060254C=	CA1329042612	IHH	c.214G= (p.Ala72=)
2	g.219060254C>G	CA350636956	IHH	c.214G>C (p.Ala72Pro)
2	g.219060254C>T	CA350636959	IHH	c.214G>A (p.Ala72Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219060255G>A	CA2116752	IHH	c.213C>T (p.Ile71=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060255G>C	CA350636960	IHH	c.213C>G (p.Ile71Met)
2	g.219060255G=	CA1329042613	IHH	c.213C= (p.Ile71=)
2	g.219060255G>T	CA431420051	IHH	c.213C>A (p.Ile71=)
2	g.219060256A=	CA1329042614	IHH	c.212T= (p.Ile71=)
2	g.219060256A>C	CA350636962	IHH	c.212T>G (p.Ile71Ser)
2	g.219060256A>G	CA350636964	IHH	c.212T>C (p.Ile71Thr)	dbSNP
2	g.219060256A>T	CA350636965	IHH	c.212T>A (p.Ile71Asn)
2	g.219060257T>A	CA350636967	IHH	c.211A>T (p.Ile71Phe)
2	g.219060257T>C	CA350636969	IHH	c.211A>G (p.Ile71Val)
2	g.219060257T>G	CA350636971	IHH	c.211A>C (p.Ile71Leu)
2	g.219060258C>A	CA350636972	IHH	c.210G>T (p.Lys70Asn)
2	g.219060258C=	CA1329042615	IHH	c.210G= (p.Lys70=)
2	g.219060258C>G	CA350636974	IHH	c.210G>C (p.Lys70Asn)
2	g.219060258C>T	CA431420062	IHH	c.210G>A (p.Lys70=)	dbSNP
2	g.219060259T>A	CA350636979	IHH	c.209A>T (p.Lys70Met)
2	g.219060259T>C	CA350636978	IHH	c.209A>G (p.Lys70Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060259T>G	CA350636976	IHH	c.209A>C (p.Lys70Thr)
2	g.219060259T=	CA1329042616	IHH	c.209A= (p.Lys70=)
2	g.219060260T>A	CA350636980	IHH	c.208A>T (p.Lys70Ter)
2	g.219060260T>C	CA350636982	IHH	c.208A>G (p.Lys70Glu)
2	g.219060260T>G	CA350636984	IHH	c.208A>C (p.Lys70Gln)
2	g.219060261G>A	CA431420069	IHH	c.207C>T (p.Gly69=)
2	g.219060261G>C	CA431420070	IHH	c.207C>G (p.Gly69=)
2	g.219060261G=	CA1329042617	IHH	c.207C= (p.Gly69=)
2	g.219060261G>T	CA2116753	IHH	c.207C>A (p.Gly69=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060262C>A	CA350636985	IHH	c.206G>T (p.Gly69Val)
2	g.219060262C>G	CA350636986	IHH	c.206G>C (p.Gly69Ala)
2	g.219060262C>T	CA350636988	IHH	c.206G>A (p.Gly69Asp)
2	g.219060263C>A	CA350636990	IHH	c.205G>T (p.Gly69Cys)
2	g.219060263C=	CA1329042618	IHH	c.205G= (p.Gly69=)
2	g.219060263C>G	CA350636992	IHH	c.205G>C (p.Gly69Arg)
2	g.219060263C>T	CA350636993	IHH	c.205G>A (p.Gly69Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.219060264T>A	CA350636994	IHH	c.204A>T (p.Glu68Asp)
2	g.219060264T>C	CA431420078	IHH	c.204A>G (p.Glu68=)
2	g.219060264T>G	CA350636995	IHH	c.204A>C (p.Glu68Asp)
2	g.219060265T>A	CA350636999	IHH	c.203A>T (p.Glu68Val)
2	g.219060265T>C	CA2116754	IHH	c.203A>G (p.Glu68Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060265T>G	CA350636998	IHH	c.203A>C (p.Glu68Ala)
2	g.219060265T=	CA1329042619	IHH	c.203A= (p.Glu68=)
2	g.219060266C>A	CA350637001	IHH	c.202G>T (p.Glu68Ter)
2	g.219060266C>G	CA350637003	IHH	c.202G>C (p.Glu68Gln)
2	g.219060266C>T	CA350637004	IHH	c.202G>A (p.Glu68Lys)
2	g.219060267A>C	CA350637005	IHH	c.201T>G (p.Tyr67Ter)
2	g.219060267A>G	CA431420087	IHH	c.201T>C (p.Tyr67=)	gnomAD v4
2	g.219060267A>T	CA350637006	IHH	c.201T>A (p.Tyr67Ter)
2	g.219060268T>A	CA350637011	IHH	c.200A>T (p.Tyr67Phe)
2	g.219060268T>C	CA2116755	IHH	c.200A>G (p.Tyr67Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060268T>G	CA350637008	IHH	c.200A>C (p.Tyr67Ser)
2	g.219060268T=	CA1329042620	IHH	c.200A= (p.Tyr67=)
2	g.219060269A>C	CA350637014	IHH	c.199T>G (p.Tyr67Asp)
2	g.219060269A>G	CA350637016	IHH	c.199T>C (p.Tyr67His)
2	g.219060269A>T	CA350637018	IHH	c.199T>A (p.Tyr67Asn)
2	g.219060270G>A	CA431420093	IHH	c.198C>T (p.Arg66=)
2	g.219060270G>C	CA431420096	IHH	c.198C>G (p.Arg66=)	dbSNP gnomAD v4
2	g.219060270G=	CA1329042621	IHH	c.198C= (p.Arg66=)
2	g.219060270G>T	CA431420098	IHH	c.198C>A (p.Arg66=)
2	g.219060271C>A	CA350637020	IHH	c.197G>T (p.Arg66Leu)	gnomAD v4
2	g.219060271C=	CA1329042622	IHH	c.197G= (p.Arg66=)
2	g.219060271C>G	CA350637025	IHH	c.197G>C (p.Arg66Pro)
2	g.219060271C>T	CA2116756	IHH	c.197G>A (p.Arg66His)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060272G>A	CA2116757	IHH	c.196C>T (p.Arg66Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060272G>C	CA350637031	IHH	c.196C>G (p.Arg66Gly)
2	g.219060272G=	CA1329042623	IHH	c.196C= (p.Arg66=)
2	g.219060272G>T	CA350637029	IHH	c.196C>A (p.Arg66Ser)
2	g.219060273T>A	CA431420105	IHH	c.195A>T (p.Gly65=)
2	g.219060273T>C	CA431420106	IHH	c.195A>G (p.Gly65=)	gnomAD v4
2	g.219060273T>G	CA431420107	IHH	c.195A>C (p.Gly65=)
2	g.219060274C>A	CA350637034	IHH	c.194G>T (p.Gly65Val)
2	g.219060274C>G	CA350637036	IHH	c.194G>C (p.Gly65Ala)
2	g.219060274C>T	CA350637039	IHH	c.194G>A (p.Gly65Glu)	COSMIC
2	g.219060275C>A	CA350637042	IHH	c.193G>T (p.Gly65Ter)
2	g.219060275C>G	CA350637043	IHH	c.193G>C (p.Gly65Arg)
2	g.219060275C>T	CA350637046	IHH	c.193G>A (p.Gly65Arg)
2	g.219060276G>A	CA2116758	IHH	c.192C>T (p.Ser64=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060276G>C	CA350637050	IHH	c.192C>G (p.Ser64Arg)	gnomAD v4
2	g.219060276G=	CA1329042624	IHH	c.192C= (p.Ser64=)
2	g.219060276G>T	CA350637051	IHH	c.192C>A (p.Ser64Arg)
2	g.219060277C>A	CA350637052	IHH	c.191G>T (p.Ser64Ile)
2	g.219060277C>G	CA350637053	IHH	c.191G>C (p.Ser64Thr)
2	g.219060277C>T	CA350637057	IHH	c.191G>A (p.Ser64Asn)
2	g.219060278T>A	CA350637060	IHH	c.190A>T (p.Ser64Cys)
2	g.219060278T>C	CA350637063	IHH	c.190A>G (p.Ser64Gly)
2	g.219060278T>G	CA350637059	IHH	c.190A>C (p.Ser64Arg)
2	g.219060279G>A	CA431420121	IHH	c.189C>T (p.Ala63=)
2	g.219060279G>C	CA431420122	IHH	c.189C>G (p.Ala63=)
2	g.219060279G>T	CA431420124	IHH	c.189C>A (p.Ala63=)
2	g.219060280G>A	CA350637071	IHH	c.188C>T (p.Ala63Val)
2	g.219060280G>C	CA350637066	IHH	c.188C>G (p.Ala63Gly)
2	g.219060280G>T	CA350637068	IHH	c.188C>A (p.Ala63Asp)
2	g.219060281C>A	CA350637073	IHH	c.187G>T (p.Ala63Ser)
2	g.219060281C=	CA1329042625	IHH	c.187G= (p.Ala63=)
2	g.219060281C>G	CA350637075	IHH	c.187G>C (p.Ala63Pro)
2	g.219060281C>T	CA350637077	IHH	c.187G>A (p.Ala63Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219060282G>A	CA431420127	IHH	c.186C>T (p.Gly62=)
2	g.219060282G>C	CA431420128	IHH	c.186C>G (p.Gly62=)
2	g.219060282G>T	CA431420129	IHH	c.186C>A (p.Gly62=)	gnomAD v4
2	g.219060283C>A	CA350637080	IHH	c.185G>T (p.Gly62Val)
2	g.219060283C>G	CA350637083	IHH	c.185G>C (p.Gly62Ala)
2	g.219060283C>T	CA350637084	IHH	c.185G>A (p.Gly62Asp)
2	g.219060284C>A	CA350637087	IHH	c.184G>T (p.Gly62Cys)	gnomAD v4
2	g.219060284C>G	CA350637088	IHH	c.184G>C (p.Gly62Arg)
2	g.219060284C>T	CA350637091	IHH	c.184G>A (p.Gly62Ser)	gnomAD v4
2	g.219060285C>A	CA431420140	IHH	c.183G>T (p.Leu61=)
2	g.219060285C>G	CA431420141	IHH	c.183G>C (p.Leu61=)
2	g.219060285C>T	CA431420142	IHH	c.183G>A (p.Leu61=)
2	g.219060286A>C	CA350637099	IHH	c.182T>G (p.Leu61Arg)
2	g.219060286A>G	CA350637097	IHH	c.182T>C (p.Leu61Pro)
2	g.219060286A>T	CA350637094	IHH	c.182T>A (p.Leu61Gln)
2	g.219060287G>A	CA431420147	IHH	c.181C>T (p.Leu61=)
2	g.219060287G>C	CA2116759	IHH	c.181C>G (p.Leu61Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060287G=	CA1329042626	IHH	c.181C= (p.Leu61=)
2	g.219060287G>T	CA350637102	IHH	c.181C>A (p.Leu61Met)
2	g.219060288G>A	CA431420151	IHH	c.180C>T (p.Thr60=)
2	g.219060288G>C	CA431420153	IHH	c.180C>G (p.Thr60=)
2	g.219060288G>T	CA431420154	IHH	c.180C>A (p.Thr60=)
2	g.219060289G>A	CA350637105	IHH	c.179C>T (p.Thr60Ile)
2	g.219060289G>C	CA2116760	IHH	c.179C>G (p.Thr60Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060289G=	CA1329042627	IHH	c.179C= (p.Thr60=)
2	g.219060289G>T	CA350637107	IHH	c.179C>A (p.Thr60Asn)
2	g.219060290T>A	CA350637109	IHH	c.178A>T (p.Thr60Ser)
2	g.219060290T>C	CA350637111	IHH	c.178A>G (p.Thr60Ala)	dbSNP gnomAD v3 gnomAD v4
2	g.219060290T>G	CA350637112	IHH	c.178A>C (p.Thr60Pro)
2	g.219060290T=	CA1329042628	IHH	c.178A= (p.Thr60=)
2	g.219060291C>A	CA350637114	IHH	c.177G>T (p.Lys59Asn)
2	g.219060291C=	CA1329042629	IHH	c.177G= (p.Lys59=)
2	g.219060291C>G	CA350637117	IHH	c.177G>C (p.Lys59Asn)
2	g.219060291C>T	CA431420168	IHH	c.177G>A (p.Lys59=)	dbSNP gnomAD v4
2	g.219060292T>A	CA350637120	IHH	c.176A>T (p.Lys59Met)
2	g.219060292T>C	CA350637122	IHH	c.176A>G (p.Lys59Arg)
2	g.219060292T>G	CA350637123	IHH	c.176A>C (p.Lys59Thr)	gnomAD v4
2	g.219060293T>A	CA350637129	IHH	c.175A>T (p.Lys59Ter)
2	g.219060293T>C	CA350637131	IHH	c.175A>G (p.Lys59Glu)
2	g.219060293T>G	CA350637127	IHH	c.175A>C (p.Lys59Gln)
2	g.219060294C>A	CA350637133	IHH	c.174G>T (p.Glu58Asp)
2	g.219060294C>G	CA350637135	IHH	c.174G>C (p.Glu58Asp)
2	g.219060294C>T	CA431420179	IHH	c.174G>A (p.Glu58=)	gnomAD v4
2	g.219060295T>A	CA350637137	IHH	c.173A>T (p.Glu58Val)
2	g.219060295T>C	CA350637139	IHH	c.173A>G (p.Glu58Gly)
2	g.219060295T>G	CA350637140	IHH	c.173A>C (p.Glu58Ala)
2	g.219060296C>A	CA350637141	IHH	c.172G>T (p.Glu58Ter)	ClinVar dbSNP
2	g.219060296C>G	CA350637142	IHH	c.172G>C (p.Glu58Gln)
2	g.219060296C>T	CA350637143	IHH	c.172G>A (p.Glu58Lys)	ClinVar
2	g.219060296_219060297del	CA2701545560	IHH	c.171_172del (p.Lys59AspfsTer9)	dbSNP
2	g.219060297G>A	CA431420198	IHH	c.171C>T (p.Pro57=)
2	g.219060297G>C	CA431420196	IHH	c.171C>G (p.Pro57=)	gnomAD v4
2	g.219060297G>T	CA431420197	IHH	c.171C>A (p.Pro57=)	gnomAD v4
2	g.219060298G>A	CA350637144	IHH	c.170C>T (p.Pro57Leu)
2	g.219060298G>C	CA350637146	IHH	c.170C>G (p.Pro57Arg)
2	g.219060298G=	CA1329042630	IHH	c.170C= (p.Pro57=)
2	g.219060298G>T	CA350637148	IHH	c.170C>A (p.Pro57His)	dbSNP gnomAD v4
2	g.219060299G>A	CA350637149	IHH	c.169C>T (p.Pro57Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060299G>C	CA350637150	IHH	c.169C>G (p.Pro57Ala)
2	g.219060299G=	CA1329042631	IHH	c.169C= (p.Pro57=)
2	g.219060299G>T	CA350637151	IHH	c.169C>A (p.Pro57Thr)	gnomAD v4
2	g.219060300C>A	CA431420215	IHH	c.168G>T (p.Val56=)
2	g.219060300C>G	CA431420214	IHH	c.168G>C (p.Val56=)	gnomAD v4
2	g.219060300C>T	CA431420208	IHH	c.168G>A (p.Val56=)
2	g.219060301A>C	CA350637161	IHH	c.167T>G (p.Val56Gly)
2	g.219060301A>G	CA350637157	IHH	c.167T>C (p.Val56Ala)	COSMIC
2	g.219060301A>T	CA350637154	IHH	c.167T>A (p.Val56Glu)
2	g.219060302C>A	CA350637162	IHH	c.166G>T (p.Val56Leu)
2	g.219060302C>G	CA350637164	IHH	c.166G>C (p.Val56Leu)
2	g.219060302C>T	CA350637167	IHH	c.166G>A (p.Val56Met)
2	g.219060303A=	CA1329042632	IHH	c.165T= (p.Asn55=)
2	g.219060303A>C	CA350637170	IHH	c.165T>G (p.Asn55Lys)
2	g.219060303A>G	CA431420226	IHH	c.165T>C (p.Asn55=)	dbSNP COSMIC
2	g.219060303A>T	CA350637173	IHH	c.165T>A (p.Asn55Lys)
2	g.219060304T>A	CA350637176	IHH	c.164A>T (p.Asn55Ile)
2	g.219060304T>C	CA2116761	IHH	c.164A>G (p.Asn55Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060304T>G	CA350637180	IHH	c.164A>C (p.Asn55Thr)
2	g.219060304T=	CA1329042633	IHH	c.164A= (p.Asn55=)
2	g.219060305T>A	CA350637182	IHH	c.163A>T (p.Asn55Tyr)
2	g.219060305T>C	CA350637185	IHH	c.163A>G (p.Asn55Asp)	dbSNP gnomAD v3 gnomAD v4
2	g.219060305T>G	CA350637187	IHH	c.163A>C (p.Asn55His)
2	g.219060305T=	CA1329042634	IHH	c.163A= (p.Asn55=)
2	g.219060306G>A	CA431420235	IHH	c.162C>T (p.Pro54=)
2	g.219060306G>C	CA431420236	IHH	c.162C>G (p.Pro54=)
2	g.219060306G>T	CA431420238	IHH	c.162C>A (p.Pro54=)
2	g.219060307G>A	CA350637189	IHH	c.161C>T (p.Pro54Leu)
2	g.219060307G>C	CA350637190	IHH	c.161C>G (p.Pro54Arg)
2	g.219060307G>T	CA350637192	IHH	c.161C>A (p.Pro54His)
2	g.219060308G>A	CA350637205	IHH	c.160C>T (p.Pro54Ser)	ClinVar dbSNP
2	g.219060308G>C	CA350637212	IHH	c.160C>G (p.Pro54Ala)
2	g.219060308G>T	CA350637196	IHH	c.160C>A (p.Pro54Thr)
2	g.219060309G>A	CA431420250	IHH	c.159C>T (p.Ser53=)
2	g.219060309G>C	CA350637217	IHH	c.159C>G (p.Ser53Arg)
2	g.219060309G>T	CA350637215	IHH	c.159C>A (p.Ser53Arg)	gnomAD v4
2	g.219060310C>A	CA350637223	IHH	c.158G>T (p.Ser53Ile)
2	g.219060310C>G	CA350637220	IHH	c.158G>C (p.Ser53Thr)
2	g.219060310C>T	CA350637225	IHH	c.158G>A (p.Ser53Asn)
2	g.219060311T>A	CA350637228	IHH	c.157A>T (p.Ser53Cys)
2	g.219060311T>C	CA350637229	IHH	c.157A>G (p.Ser53Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.219060311T>G	CA350637232	IHH	c.157A>C (p.Ser53Arg)
2	g.219060311T=	CA1329042635	IHH	c.157A= (p.Ser53=)
2	g.219060312G>A	CA431420259	IHH	c.156C>T (p.Phe52=)
2	g.219060312G>C	CA350637236	IHH	c.156C>G (p.Phe52Leu)
2	g.219060312G>T	CA350637238	IHH	c.156C>A (p.Phe52Leu)
2	g.219060313A>C	CA350637242	IHH	c.155T>G (p.Phe52Cys)
2	g.219060313A>G	CA350637244	IHH	c.155T>C (p.Phe52Ser)
2	g.219060313A>T	CA350637245	IHH	c.155T>A (p.Phe52Tyr)
2	g.219060314A=	CA1329042636	IHH	c.154T= (p.Phe52=)
2	g.219060314A>C	CA350637247	IHH	c.154T>G (p.Phe52Val)
2	g.219060314A>G	CA65951302	IHH	c.154T>C (p.Phe52Leu)	dbSNP
2	g.219060314A>T	CA350637252	IHH	c.154T>A (p.Phe52Ile)
2	g.219060315C>A	CA350637255	IHH	c.153G>T (p.Gln51His)
2	g.219060315C>G	CA350637256	IHH	c.153G>C (p.Gln51His)
2	g.219060315C>T	CA431420277	IHH	c.153G>A (p.Gln51=)
2	g.219060316T>A	CA350637264	IHH	c.152A>T (p.Gln51Leu)
2	g.219060316T>C	CA350637262	IHH	c.152A>G (p.Gln51Arg)
2	g.219060316T>G	CA350637260	IHH	c.152A>C (p.Gln51Pro)
2	g.219060317G>A	CA350637266	IHH	c.151C>T (p.Gln51Ter)
2	g.219060317G>C	CA350637269	IHH	c.151C>G (p.Gln51Glu)
2	g.219060317G=	CA1329042637	IHH	c.151C= (p.Gln51=)
2	g.219060317G>T	CA350637272	IHH	c.151C>A (p.Gln51Lys)	ClinVar dbSNP gnomAD v4
2	g.219060318C>A	CA350637274	IHH	c.150G>T (p.Lys50Asn)
2	g.219060318C>G	CA350637277	IHH	c.150G>C (p.Lys50Asn)
2	g.219060318C>T	CA431420279	IHH	c.150G>A (p.Lys50=)
2	g.219060319T>A	CA350637280	IHH	c.149A>T (p.Lys50Met)
2	g.219060319T>C	CA350637281	IHH	c.149A>G (p.Lys50Arg)
2	g.219060319T>G	CA350637283	IHH	c.149A>C (p.Lys50Thr)

Number of alleles fetched