Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.3083096C>A	CA408061716	AVP	c.203G>T (p.Gly68Val)	gnomAD v4
20	g.3083096C>G	CA408061717	AVP	c.203G>C (p.Gly68Ala)
20	g.3083096C>T	CA408061718	AVP	c.203G>A (p.Gly68Asp)	gnomAD v4
20	g.3083097C>A	CA408061719	AVP	c.202G>T (p.Gly68Cys)	gnomAD v4
20	g.3083097C=	CA2346405576	AVP	c.202G= (p.Gly68=)
20	g.3083097C>G	CA9739460	AVP	c.202G>C (p.Gly68Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083097C>T	CA408061720	AVP	c.202G>A (p.Gly68Ser)	gnomAD v4
20	g.3083098C>A	CA509554718	AVP	c.201G>T (p.Val67=)	gnomAD v4
20	g.3083098C>G	CA509554719	AVP	c.201G>C (p.Val67=)
20	g.3083098C>T	CA509554720	AVP	c.201G>A (p.Val67=)	gnomAD v4
20	g.3083099A=	CA2346405577	AVP	c.200T= (p.Val67=)
20	g.3083099A>C	CA408061722	AVP	c.200T>G (p.Val67Gly)
20	g.3083099A>G	CA121972	AVP	c.200T>C (p.Val67Ala)	ClinVar dbSNP gnomAD v4
20	g.3083099A>T	CA408061721	AVP	c.200T>A (p.Val67Glu)	gnomAD v4
20	g.3083100C>A	CA408061723	AVP	c.199G>T (p.Val67Leu)	gnomAD v4
20	g.3083100C=	CA2346405578	AVP	c.199G= (p.Val67=)
20	g.3083100C>G	CA408061724	AVP	c.199G>C (p.Val67Leu)
20	g.3083100C>T	CA408061725	AVP	c.199G>A (p.Val67Met)	dbSNP gnomAD v4
20	g.3083101G>A	CA509554721	AVP	c.198C>T (p.Phe66=)	dbSNP gnomAD v4
20	g.3083101G>C	CA408061726	AVP	c.198C>G (p.Phe66Leu)
20	g.3083101G>T	CA408061727	AVP	c.198C>A (p.Phe66Leu)	gnomAD v4
20	g.3083102A>C	CA408061730	AVP	c.197T>G (p.Phe66Cys)
20	g.3083102A>G	CA408061728	AVP	c.197T>C (p.Phe66Ser)
20	g.3083102A>T	CA408061729	AVP	c.197T>A (p.Phe66Tyr)
20	g.3083103A>C	CA408061731	AVP	c.196T>G (p.Phe66Val)
20	g.3083103A>G	CA408061732	AVP	c.196T>C (p.Phe66Leu)	gnomAD v4
20	g.3083103A>T	CA408061733	AVP	c.196T>A (p.Phe66Ile)
20	g.3083104G>A	CA509554722	AVP	c.195C>T (p.Cys65=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083104G>C	CA408061734	AVP	c.195C>G (p.Cys65Trp)
20	g.3083104G=	CA2346405579	AVP	c.195C= (p.Cys65=)
20	g.3083104G>T	CA408061735	AVP	c.195C>A (p.Cys65Ter)	gnomAD v4
20	g.3083105C>A	CA408061738	AVP	c.194G>T (p.Cys65Phe)	gnomAD v4
20	g.3083105C>G	CA408061737	AVP	c.194G>C (p.Cys65Ser)
20	g.3083105C>T	CA408061736	AVP	c.194G>A (p.Cys65Tyr)	gnomAD v4
20	g.3083106A>C	CA408061739	AVP	c.193T>G (p.Cys65Gly)
20	g.3083106A>G	CA408061741	AVP	c.193T>C (p.Cys65Arg)	gnomAD v4
20	g.3083106A>T	CA408061740	AVP	c.193T>A (p.Cys65Ser)
20	g.3083106_3083107delinsTT	CA2695229217	AVP	c.192_193delinsAA (p.Cys65Ser)
20	g.3083107G>A	CA509554725	AVP	c.192C>T (p.Gly64=)	gnomAD v4
20	g.3083107G>C	CA509554724	AVP	c.192C>G (p.Gly64=)	gnomAD v4
20	g.3083107G>T	CA509554723	AVP	c.192C>A (p.Gly64=)	gnomAD v4
20	g.3083108C>A	CA408061742	AVP	c.191G>T (p.Gly64Val)	gnomAD v4
20	g.3083108C>G	CA408061743	AVP	c.191G>C (p.Gly64Ala)
20	g.3083108C>T	CA408061744	AVP	c.191G>A (p.Gly64Asp)	gnomAD v4
20	g.3083110del	CA2651674847	AVP	c.191del (p.Gly64AlafsTer?)	gnomAD v4
20	g.3083109C>A	CA408061745	AVP	c.190G>T (p.Gly64Cys)	gnomAD v4
20	g.3083109C=	CA2346405580	AVP	c.190G= (p.Gly64=)
20	g.3083109C>G	CA408061746	AVP	c.190G>C (p.Gly64Arg)
20	g.3083109C>T	CA408061747	AVP	c.190G>A (p.Gly64Ser)	dbSNP gnomAD v2 gnomAD v4
20	g.3083110C>A	CA509554726	AVP	c.189G>T (p.Leu63=)	gnomAD v4
20	g.3083110C>G	CA509554727	AVP	c.189G>C (p.Leu63=)
20	g.3083110C>T	CA509554728	AVP	c.189G>A (p.Leu63=)	gnomAD v4
20	g.3083111A>C	CA408061748	AVP	c.188T>G (p.Leu63Arg)
20	g.3083111A>G	CA408061749	AVP	c.188T>C (p.Leu63Pro)	gnomAD v4
20	g.3083111A>T	CA408061750	AVP	c.188T>A (p.Leu63Gln)
20	g.3083112G>A	CA509554729	AVP	c.187C>T (p.Leu63=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083112G>C	CA408061751	AVP	c.187C>G (p.Leu63Val)	gnomAD v4
20	g.3083112G=	CA2346405581	AVP	c.187C= (p.Leu63=)
20	g.3083112G>T	CA408061752	AVP	c.187C>A (p.Leu63Met)	gnomAD v4
20	g.3083113C>A	CA408061754	AVP	c.186G>T (p.Glu62Asp)	gnomAD v4
20	g.3083113C>G	CA408061753	AVP	c.186G>C (p.Glu62Asp)
20	g.3083113C>T	CA509554730	AVP	c.186G>A (p.Glu62=)	gnomAD v4
20	g.3083114T>A	CA408061755	AVP	c.185A>T (p.Glu62Val)
20	g.3083114T>C	CA408061756	AVP	c.185A>G (p.Glu62Gly)	gnomAD v4
20	g.3083114T>G	CA408061757	AVP	c.185A>C (p.Glu62Ala)
20	g.3083115C>A	CA408061758	AVP	c.184G>T (p.Glu62Ter)	gnomAD v4
20	g.3083115C=	CA2346405582	AVP	c.184G= (p.Glu62=)
20	g.3083115C>G	CA408061759	AVP	c.184G>C (p.Glu62Gln)
20	g.3083115C>T	CA310943294	AVP	c.184G>A (p.Glu62Lys)	dbSNP
20	g.3083116G>A	CA9739461	AVP	c.183C>T (p.Asp61=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083116G>C	CA408061760	AVP	c.183C>G (p.Asp61Glu)	gnomAD v4
20	g.3083116G=	CA2346405583	AVP	c.183C= (p.Asp61=)
20	g.3083116G>T	CA408061761	AVP	c.183C>A (p.Asp61Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083117T>A	CA408061762	AVP	c.182A>T (p.Asp61Val)
20	g.3083117T>C	CA408061763	AVP	c.182A>G (p.Asp61Gly)	gnomAD v4
20	g.3083117T>G	CA408061764	AVP	c.182A>C (p.Asp61Ala)
20	g.3083118C>A	CA408061766	AVP	c.181G>T (p.Asp61Tyr)	gnomAD v4
20	g.3083118C>G	CA408061767	AVP	c.181G>C (p.Asp61His)
20	g.3083118C>T	CA408061765	AVP	c.181G>A (p.Asp61Asn)	gnomAD v4
20	g.3083119C>A	CA509554731	AVP	c.180G>T (p.Ala60=)	dbSNP gnomAD v3 gnomAD v4
20	g.3083119C=	CA2346405584	AVP	c.180G= (p.Ala60=)
20	g.3083119C>G	CA509554732	AVP	c.180G>C (p.Ala60=)
20	g.3083119C>T	CA509554733	AVP	c.180G>A (p.Ala60=)	gnomAD v4
20	g.3083122_3083123del	CA2651674848	AVP	c.179_180del (p.Ala60GlyfsTer11)	gnomAD v4
20	g.3083120G>A	CA9739462	AVP	c.179C>T (p.Ala60Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083120G>C	CA408061768	AVP	c.179C>G (p.Ala60Gly)	gnomAD v4
20	g.3083120G=	CA2346405585	AVP	c.179C= (p.Ala60=)
20	g.3083120G>T	CA408061769	AVP	c.179C>A (p.Ala60Glu)	gnomAD v4
20	g.3083120_3083122del	CA2695229218	AVP	c.177_179del (p.Cys59_Ala60delinsTrp)
20	g.3083121C>A	CA408061770	AVP	c.178G>T (p.Ala60Ser)	gnomAD v4
20	g.3083121C>G	CA408061771	AVP	c.178G>C (p.Ala60Pro)
20	g.3083121C>T	CA408061772	AVP	c.178G>A (p.Ala60Thr)	gnomAD v4
20	g.3083122G>A	CA509554734	AVP	c.177C>T (p.Cys59=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.3083122G>C	CA408061773	AVP	c.177C>G (p.Cys59Trp)
20	g.3083122G=	CA2346405586	AVP	c.177C= (p.Cys59=)
20	g.3083122G>T	CA408061774	AVP	c.177C>A (p.Cys59Ter)	gnomAD v4
20	g.3083123C>A	CA408061775	AVP	c.176G>T (p.Cys59Phe)	gnomAD v4
20	g.3083123C>G	CA408061776	AVP	c.176G>C (p.Cys59Ser)
20	g.3083123C>T	CA408061777	AVP	c.176G>A (p.Cys59Tyr)	gnomAD v4
20	g.3083124A>C	CA408061778	AVP	c.175T>G (p.Cys59Gly)
20	g.3083124A>G	CA408061779	AVP	c.175T>C (p.Cys59Arg)	gnomAD v4
20	g.3083124A>T	CA408061780	AVP	c.175T>A (p.Cys59Ser)
20	g.3083125G>A	CA509554735	AVP	c.174C>T (p.Cys58=)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.3083125G>C	CA408061781	AVP	c.174C>G (p.Cys58Trp)	gnomAD v4
20	g.3083125G=	CA2346405587	AVP	c.174C= (p.Cys58=)
20	g.3083125G>T	CA408061782	AVP	c.174C>A (p.Cys58Ter)	gnomAD v4
20	g.3083126C>A	CA408061783	AVP	c.173G>T (p.Cys58Phe)	gnomAD v4
20	g.3083126C>G	CA408061784	AVP	c.173G>C (p.Cys58Ser)
20	g.3083126C>T	CA408061785	AVP	c.173G>A (p.Cys58Tyr)	gnomAD v4
20	g.3083127A>C	CA408061786	AVP	c.172T>G (p.Cys58Gly)
20	g.3083127A>G	CA408061787	AVP	c.172T>C (p.Cys58Arg)	gnomAD v4
20	g.3083127A>T	CA408061788	AVP	c.172T>A (p.Cys58Ser)
20	g.3083128G>A	CA509554737	AVP	c.171C>T (p.Ile57=)
20	g.3083128G>C	CA408061789	AVP	c.171C>G (p.Ile57Met)
20	g.3083128G>T	CA509554736	AVP	c.171C>A (p.Ile57=)
20	g.3083129A>C	CA408061790	AVP	c.170T>G (p.Ile57Ser)
20	g.3083129A>G	CA408061791	AVP	c.170T>C (p.Ile57Thr)	gnomAD v4
20	g.3083129A>T	CA408061792	AVP	c.170T>A (p.Ile57Asn)
20	g.3083130T>A	CA408061793	AVP	c.169A>T (p.Ile57Phe)
20	g.3083130T>C	CA408061794	AVP	c.169A>G (p.Ile57Val)	gnomAD v4
20	g.3083130T>G	CA408061795	AVP	c.169A>C (p.Ile57Leu)
20	g.3083131G>A	CA509554738	AVP	c.168C>T (p.Ser56=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083131G>C	CA408061796	AVP	c.168C>G (p.Ser56Arg)
20	g.3083131G=	CA2346405588	AVP	c.168C= (p.Ser56=)
20	g.3083131G>T	CA408061797	AVP	c.168C>A (p.Ser56Arg)	gnomAD v4
20	g.3083132C>A	CA408061798	AVP	c.167G>T (p.Ser56Ile)	gnomAD v4
20	g.3083132C=	CA2346405589	AVP	c.167G= (p.Ser56=)
20	g.3083132C>G	CA408061800	AVP	c.167G>C (p.Ser56Thr)
20	g.3083132C>T	CA408061799	AVP	c.167G>A (p.Ser56Asn)	dbSNP gnomAD v2 gnomAD v4
20	g.3083133T>A	CA408061801	AVP	c.166A>T (p.Ser56Cys)
20	g.3083133T>C	CA408061802	AVP	c.166A>G (p.Ser56Gly)	dbSNP gnomAD v4
20	g.3083133T>G	CA408061803	AVP	c.166A>C (p.Ser56Arg)
20	g.3083133T=	CA2346405590	AVP	c.166A= (p.Ser56=)
20	g.3083134G>A	CA310943310	AVP	c.165C>T (p.Pro55=)	dbSNP gnomAD v3 gnomAD v4
20	g.3083134G>C	CA509554740	AVP	c.165C>G (p.Pro55=)
20	g.3083134G=	CA2346405591	AVP	c.165C= (p.Pro55=)
20	g.3083134G>T	CA509554739	AVP	c.165C>A (p.Pro55=)	gnomAD v4
20	g.3083135G>A	CA408061804	AVP	c.164C>T (p.Pro55Leu)	ClinVar gnomAD v4
20	g.3083135G>C	CA408061805	AVP	c.164C>G (p.Pro55Arg)
20	g.3083135G>T	CA408061806	AVP	c.164C>A (p.Pro55His)	gnomAD v4
20	g.3083136G>A	CA408061807	AVP	c.163C>T (p.Pro55Ser)	gnomAD v4
20	g.3083136G>C	CA9739463	AVP	c.163C>G (p.Pro55Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083136G=	CA2346405592	AVP	c.163C= (p.Pro55=)
20	g.3083136G>T	CA408061808	AVP	c.163C>A (p.Pro55Thr)	gnomAD v4
20	g.3083137C>A	CA509554741	AVP	c.162G>T (p.Gly54=)	gnomAD v4
20	g.3083137C>G	CA509554742	AVP	c.162G>C (p.Gly54=)	gnomAD v4
20	g.3083137C>T	CA509554743	AVP	c.162G>A (p.Gly54=)	gnomAD v4
20	g.3083138C>A	CA121961	AVP	c.161G>T (p.Gly54Val)	ClinVar dbSNP gnomAD v4
20	g.3083138C=	CA2346405593	AVP	c.161G= (p.Gly54=)
20	g.3083138C>G	CA408061809	AVP	c.161G>C (p.Gly54Ala)	gnomAD v4
20	g.3083138C>T	CA408061810	AVP	c.161G>A (p.Gly54Glu)	gnomAD v4
20	g.3083139C>A	CA408061812	AVP	c.160G>T (p.Gly54Trp)	gnomAD v4
20	g.3083139C=	CA2346405594	AVP	c.160G= (p.Gly54=)
20	g.3083139C>G	CA121963	AVP	c.160G>C (p.Gly54Arg)	ClinVar dbSNP
20	g.3083139C>T	CA408061811	AVP	c.160G>A (p.Gly54Arg)	gnomAD v4
20	g.3083140G>A	CA9739464	AVP	c.159C>T (p.Phe53=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083140G>C	CA408061813	AVP	c.159C>G (p.Phe53Leu)
20	g.3083140G=	CA2346405595	AVP	c.159C= (p.Phe53=)
20	g.3083140G>T	CA408061814	AVP	c.159C>A (p.Phe53Leu)	gnomAD v4
20	g.3083141A>C	CA408061815	AVP	c.158T>G (p.Phe53Cys)
20	g.3083141A>G	CA408061816	AVP	c.158T>C (p.Phe53Ser)	gnomAD v4
20	g.3083141A>T	CA408061817	AVP	c.158T>A (p.Phe53Tyr)
20	g.3083142A>C	CA408061818	AVP	c.157T>G (p.Phe53Val)
20	g.3083142A>G	CA408061819	AVP	c.157T>C (p.Phe53Leu)	gnomAD v4
20	g.3083142A>T	CA408061820	AVP	c.157T>A (p.Phe53Ile)
20	g.3083143G>A	CA509554744	AVP	c.156C>T (p.Cys52=)	gnomAD v4
20	g.3083143G>C	CA408061821	AVP	c.156C>G (p.Cys52Trp)
20	g.3083143G>T	CA408061822	AVP	c.156C>A (p.Cys52Ter)	gnomAD v4
20	g.3083144C>A	CA408061825	AVP	c.155G>T (p.Cys52Phe)	gnomAD v4
20	g.3083144C>G	CA408061824	AVP	c.155G>C (p.Cys52Ser)
20	g.3083144C>T	CA408061823	AVP	c.155G>A (p.Cys52Tyr)	gnomAD v4
20	g.3083145A>C	CA408061828	AVP	c.154T>G (p.Cys52Gly)
20	g.3083145A>G	CA408061826	AVP	c.154T>C (p.Cys52Arg)	gnomAD v4
20	g.3083145A>T	CA408061827	AVP	c.154T>A (p.Cys52Ser)
20	g.3083146G>A	CA509554745	AVP	c.153C>T (p.Arg51=)	gnomAD v4
20	g.3083146G>C	CA509554746	AVP	c.153C>G (p.Arg51=)
20	g.3083146G>T	CA509554747	AVP	c.153C>A (p.Arg51=)	gnomAD v4
20	g.3083147C>A	CA408061829	AVP	c.152G>T (p.Arg51Leu)	gnomAD v4
20	g.3083147C>G	CA408061830	AVP	c.152G>C (p.Arg51Pro)
20	g.3083147C>T	CA408061831	AVP	c.152G>A (p.Arg51His)	gnomAD v4
20	g.3083148G>A	CA408061832	AVP	c.151C>T (p.Arg51Cys)	dbSNP gnomAD v3 gnomAD v4
20	g.3083148G>C	CA408061833	AVP	c.151C>G (p.Arg51Gly)
20	g.3083148G=	CA2346405596	AVP	c.151C= (p.Arg51=)
20	g.3083148G>T	CA408061834	AVP	c.151C>A (p.Arg51Ser)	gnomAD v4
20	g.3083149G>A	CA509554748	AVP	c.150C>T (p.Gly50=)	gnomAD v4
20	g.3083149G>C	CA509554749	AVP	c.150C>G (p.Gly50=)
20	g.3083149G=	CA2346405597	AVP	c.150C= (p.Gly50=)
20	g.3083149G>T	CA9739465	AVP	c.150C>A (p.Gly50=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083150C>A	CA408061835	AVP	c.149G>T (p.Gly50Val)	gnomAD v4
20	g.3083150C>G	CA408061836	AVP	c.149G>C (p.Gly50Ala)
20	g.3083150C>T	CA408061837	AVP	c.149G>A (p.Gly50Asp)	gnomAD v4
20	g.3083151C>A	CA408061839	AVP	c.148G>T (p.Gly50Cys)	gnomAD v4
20	g.3083151C>G	CA408061840	AVP	c.148G>C (p.Gly50Arg)
20	g.3083151C>T	CA408061838	AVP	c.148G>A (p.Gly50Ser)
20	g.3083152T>A	CA408061841	AVP	c.147A>T (p.Lys49Asn)	gnomAD v4
20	g.3083152T>C	CA509554750	AVP	c.147A>G (p.Lys49=)	gnomAD v4
20	g.3083152T>G	CA408061842	AVP	c.147A>C (p.Lys49Asn)	gnomAD v4
20	g.3083154del	CA2651674849	AVP	c.147del (p.Gly50AlafsTer?)	gnomAD v4
20	g.3083153T>A	CA408061843	AVP	c.146A>T (p.Lys49Ile)	gnomAD v4
20	g.3083153T>C	CA408061844	AVP	c.146A>G (p.Lys49Arg)	gnomAD v4
20	g.3083153T>G	CA408061845	AVP	c.146A>C (p.Lys49Thr)
20	g.3083154T>A	CA408061848	AVP	c.145A>T (p.Lys49Ter)
20	g.3083154T>C	CA408061846	AVP	c.145A>G (p.Lys49Glu)	gnomAD v4
20	g.3083154T>G	CA408061847	AVP	c.145A>C (p.Lys49Gln)
20	g.3083154_3083155delinsTG	CA2346405598	AVP	c.144_145delinsCA (p.Gly48=)
20	g.3083155del	CA2346405599	AVP	c.144del (p.Gly50AlafsTer?)	dbSNP
20	g.3083155G>A	CA509554752	AVP	c.144C>T (p.Gly48=)	gnomAD v4
20	g.3083155G>C	CA509554753	AVP	c.144C>G (p.Gly48=)
20	g.3083155G>T	CA509554751	AVP	c.144C>A (p.Gly48=)	gnomAD v4
20	g.3083155_3083156delinsGC	CA2346405600	AVP	c.143_144delinsGC (p.Gly48=)
20	g.3083156C>A	CA121948	AVP	c.143G>T (p.Gly48Val)	ClinVar dbSNP gnomAD v4
20	g.3083156C=	CA2346405601	AVP	c.143G= (p.Gly48=)
20	g.3083156C>G	CA408061849	AVP	c.143G>C (p.Gly48Ala)	dbSNP
20	g.3083156C>T	CA408061850	AVP	c.143G>A (p.Gly48Asp)	gnomAD v4
20	g.3083160dup	CA2651674850	AVP	c.143dup (p.Lys49GlnfsTer23)	gnomAD v4
20	g.3083160del	CA634328927	AVP	c.143del (p.Gly48AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
20	g.3083157C>A	CA408061851	AVP	c.142G>T (p.Gly48Cys)	gnomAD v4
20	g.3083157C>G	CA408061852	AVP	c.142G>C (p.Gly48Arg)	gnomAD v4
20	g.3083157C>T	CA408061853	AVP	c.142G>A (p.Gly48Ser)	gnomAD v4
20	g.3083158C>A	CA509554756	AVP	c.141G>T (p.Gly47=)	gnomAD v4
20	g.3083158C=	CA2346405602	AVP	c.141G= (p.Gly47=)
20	g.3083158C>G	CA509554755	AVP	c.141G>C (p.Gly47=)
20	g.3083158C>T	CA509554754	AVP	c.141G>A (p.Gly47=)	dbSNP gnomAD v2 gnomAD v4
20	g.3083159C>A	CA408061855	AVP	c.140G>T (p.Gly47Val)	gnomAD v4
20	g.3083159C=	CA2346405603	AVP	c.140G= (p.Gly47=)
20	g.3083159C>G	CA408061856	AVP	c.140G>C (p.Gly47Ala)
20	g.3083159C>T	CA408061854	AVP	c.140G>A (p.Gly47Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.3083160C>A	CA9739466	AVP	c.139G>T (p.Gly47Trp)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083160C=	CA2346405604	AVP	c.139G= (p.Gly47=)
20	g.3083160C>G	CA408061857	AVP	c.139G>C (p.Gly47Arg)	gnomAD v4
20	g.3083160C>T	CA310943359	AVP	c.139G>A (p.Gly47Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083160_3083161insT	CA2651674851	AVP	c.138_139insA (p.Gly47ArgfsTer25)	gnomAD v4
20	g.3083161G>A	CA509554757	AVP	c.138C>T (p.Pro46=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083161G>C	CA509554759	AVP	c.138C>G (p.Pro46=)	gnomAD v4
20	g.3083161G=	CA2346405605	AVP	c.138C= (p.Pro46=)
20	g.3083161G>T	CA509554758	AVP	c.138C>A (p.Pro46=)	gnomAD v4
20	g.3083164dup	CA2815070604	AVP	c.138dup (p.Gly47ArgfsTer25)
20	g.3083164del	CA2651674852	AVP	c.138del (p.Gly48AlafsTer?)	gnomAD v4
20	g.3083162G>A	CA9739467	AVP	c.137C>T (p.Pro46Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083162G>C	CA408061858	AVP	c.137C>G (p.Pro46Arg)
20	g.3083162G=	CA2346405606	AVP	c.137C= (p.Pro46=)
20	g.3083162G>T	CA408061859	AVP	c.137C>A (p.Pro46His)	gnomAD v4
20	g.3083163G>A	CA408061860	AVP	c.136C>T (p.Pro46Ser)	dbSNP gnomAD v2 gnomAD v4
20	g.3083163G>C	CA408061861	AVP	c.136C>G (p.Pro46Ala)
20	g.3083163G=	CA2346405607	AVP	c.136C= (p.Pro46=)
20	g.3083163G>T	CA408061862	AVP	c.136C>A (p.Pro46Thr)	gnomAD v4
20	g.3083164G>A	CA509554760	AVP	c.135C>T (p.Gly45=)	gnomAD v4
20	g.3083164G>C	CA509554761	AVP	c.135C>G (p.Gly45=)	gnomAD v4
20	g.3083164G>T	CA509554762	AVP	c.135C>A (p.Gly45=)	gnomAD v4
20	g.3083165C>A	CA408061863	AVP	c.134G>T (p.Gly45Val)	gnomAD v4
20	g.3083165C=	CA2346405608	AVP	c.134G= (p.Gly45=)
20	g.3083165C>G	CA408061864	AVP	c.134G>C (p.Gly45Ala)
20	g.3083165C>T	CA408061865	AVP	c.134G>A (p.Gly45Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083166C>A	CA408061866	AVP	c.133G>T (p.Gly45Cys)	gnomAD v4
20	g.3083166C>G	CA408061867	AVP	c.133G>C (p.Gly45Arg)
20	g.3083166C>T	CA408061868	AVP	c.133G>A (p.Gly45Ser)	gnomAD v4
20	g.3083167del	CA2651674853	AVP	c.132del (p.Cys44TrpfsTer?)	gnomAD v4
20	g.3083167G>A	CA9739468	AVP	c.132C>T (p.Cys44=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083167G>C	CA408061870	AVP	c.132C>G (p.Cys44Trp)
20	g.3083167G=	CA2346405609	AVP	c.132C= (p.Cys44=)
20	g.3083167G>T	CA408061869	AVP	c.132C>A (p.Cys44Ter)	gnomAD v4
20	g.3083168C>A	CA10654930	AVP	c.131G>T (p.Cys44Phe)	ClinVar dbSNP gnomAD v4
20	g.3083168C=	CA2346405610	AVP	c.131G= (p.Cys44=)
20	g.3083168C>G	CA408061871	AVP	c.131G>C (p.Cys44Ser)
20	g.3083168C>T	CA408061872	AVP	c.131G>A (p.Cys44Tyr)	gnomAD v4
20	g.3083169A=	CA2346405612	AVP	c.130T= (p.Cys44=)
20	g.3083169A>C	CA408061873	AVP	c.130T>G (p.Cys44Gly)	dbSNP
20	g.3083169A>G	CA408061874	AVP	c.130T>C (p.Cys44Arg)	gnomAD v4
20	g.3083169A>T	CA408061875	AVP	c.130T>A (p.Cys44Ser)	gnomAD v4
20	g.3083169_3083170delinsAG	CA2346405611	AVP	c.129_130delinsCT (p.Pro43=)
20	g.3083170G>A	CA509554763	AVP	c.129C>T (p.Pro43=)	gnomAD v4
20	g.3083170G>C	CA509554764	AVP	c.129C>G (p.Pro43=)
20	g.3083170G>T	CA509554765	AVP	c.129C>A (p.Pro43=)	gnomAD v4
20	g.3083173dup	CA2651674854	AVP	c.129dup (p.Cys44LeufsTer28)	gnomAD v4
20	g.3083173del	CA1014830920	AVP	c.129del (p.Cys44AlafsTer?)	dbSNP gnomAD v3 gnomAD v4
20	g.3083171G>A	CA408061876	AVP	c.128C>T (p.Pro43Leu)	dbSNP gnomAD v4
20	g.3083171G>C	CA408061877	AVP	c.128C>G (p.Pro43Arg)
20	g.3083171G=	CA2346405613	AVP	c.128C= (p.Pro43=)
20	g.3083171G>T	CA408061878	AVP	c.128C>A (p.Pro43His)	dbSNP gnomAD v2 gnomAD v4
20	g.3083172G>A	CA408061879	AVP	c.127C>T (p.Pro43Ser)	gnomAD v4
20	g.3083172G>C	CA9739469	AVP	c.127C>G (p.Pro43Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083172G=	CA2346405614	AVP	c.127C= (p.Pro43=)
20	g.3083172G>T	CA9739470	AVP	c.127C>A (p.Pro43Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083173G>A	CA509554766	AVP	c.126C>T (p.Leu42=)	gnomAD v4
20	g.3083173G>C	CA509554767	AVP	c.126C>G (p.Leu42=)
20	g.3083173G>T	CA509554768	AVP	c.126C>A (p.Leu42=)	gnomAD v4
20	g.3083174A>C	CA408061880	AVP	c.125T>G (p.Leu42Arg)
20	g.3083174A>G	CA408061881	AVP	c.125T>C (p.Leu42Pro)	gnomAD v4
20	g.3083174A>T	CA408061882	AVP	c.125T>A (p.Leu42His)	gnomAD v4
20	g.3083175G>A	CA408061883	AVP	c.124C>T (p.Leu42Phe)	dbSNP gnomAD v3 gnomAD v4
20	g.3083175G>C	CA408061884	AVP	c.124C>G (p.Leu42Val)
20	g.3083175G=	CA2346405615	AVP	c.124C= (p.Leu42=)
20	g.3083175G>T	CA408061885	AVP	c.124C>A (p.Leu42Ile)	dbSNP gnomAD v2 gnomAD v4
20	g.3083176G>A	CA509554769	AVP	c.123C>T (p.Cys41=)	gnomAD v4 COSMIC
20	g.3083176G>C	CA408061887	AVP	c.123C>G (p.Cys41Trp)
20	g.3083176G>T	CA408061886	AVP	c.123C>A (p.Cys41Ter)	gnomAD v4
20	g.3083177C>A	CA408061888	AVP	c.122G>T (p.Cys41Phe)	gnomAD v4
20	g.3083177C>G	CA408061889	AVP	c.122G>C (p.Cys41Ser)
20	g.3083177C>T	CA408061890	AVP	c.122G>A (p.Cys41Tyr)	gnomAD v4
20	g.3083178A>C	CA408061891	AVP	c.121T>G (p.Cys41Gly)
20	g.3083178A>G	CA408061892	AVP	c.121T>C (p.Cys41Arg)	gnomAD v4
20	g.3083178A>T	CA408061893	AVP	c.121T>A (p.Cys41Ser)
20	g.3083179C>A	CA408061894	AVP	c.121-1G>T (n.121-1G>T)	gnomAD v4
20	g.3083179C>G	CA408061896	AVP	c.121-1G>C (n.121-1G>C)
20	g.3083179C>T	CA408061895	AVP	c.121-1G>A (n.121-1G>A)	gnomAD v4
20	g.3083180T>A	CA408061897	AVP	c.121-2A>T (n.121-2A>T)
20	g.3083180T>C	CA310943379	AVP	c.121-2A>G (n.121-2A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083180T>G	CA408061898	AVP	c.121-2A>C (n.121-2A>C)
20	g.3083180T=	CA2346405616	AVP	c.121-2A= (n.121-2A=)
20	g.3083181G>A	CA2651674855	AVP	c.121-3C>T (n.121-3C>T)	gnomAD v4
20	g.3083182C>A	CA2651674856	AVP	c.121-4G>T (n.121-4G>T)	gnomAD v4
20	g.3083182C=	CA2346405617	AVP	c.121-4G= (n.121-4G=)
20	g.3083182C>G	CA2736146718	AVP	c.121-4G>C (n.121-4G>C)	dbSNP
20	g.3083182C>T	CA743330669	AVP	c.121-4G>A (n.121-4G>A)	dbSNP gnomAD v3 gnomAD v4
20	g.3083182dup	CA2577323030	AVP	c.121-4dup (n.121-4dup)
20	g.3083183G>A	CA634328928	AVP	c.121-5C>T (n.121-5C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.3083183G>C	CA2651674858	AVP	c.121-5C>G (n.121-5C>G)	gnomAD v4
20	g.3083183G=	CA2346405618	AVP	c.121-5C= (n.121-5C=)
20	g.3083183G>T	CA2651674859	AVP	c.121-5C>A (n.121-5C>A)	gnomAD v4
20	g.3083186del	CA2651674857	AVP	c.121-5del (n.121-5del)	gnomAD v4
20	g.3083184G>A	CA2346405620	AVP	c.121-6C>T (n.121-6C>T)	dbSNP gnomAD v4
20	g.3083184G>C	CA2346405621	AVP	c.121-6C>G (n.121-6C>G)	dbSNP gnomAD v4
20	g.3083184G=	CA2346405619	AVP	c.121-6C= (n.121-6C=)
20	g.3083184G>T	CA2651674860	AVP	c.121-6C>A (n.121-6C>A)	gnomAD v4
20	g.3083185G>A	CA2651674861	AVP	c.121-7C>T (n.121-7C>T)	gnomAD v4
20	g.3083185G>T	CA2577323031	AVP	c.121-7C>A (n.121-7C>A)	gnomAD v4
20	g.3083186G>A	CA743330670	AVP	c.121-8C>T (n.121-8C>T)	dbSNP gnomAD v3 gnomAD v4
20	g.3083186G=	CA2346405622	AVP	c.121-8C= (n.121-8C=)
20	g.3083186G>T	CA2651674862	AVP	c.121-8C>A (n.121-8C>A)	gnomAD v4
20	g.3083187A>G	CA2651674863	AVP	c.121-9T>C (n.121-9T>C)	gnomAD v4
20	g.3083187A>T	CA2651674864	AVP	c.121-9T>A (n.121-9T>A)	gnomAD v4
20	g.3083188C>A	CA2651674865	AVP	c.121-10G>T (n.121-10G>T)	gnomAD v4
20	g.3083188C>G	CA2815070605	AVP	c.121-10G>C (n.121-10G>C)
20	g.3083188C>T	CA2651674866	AVP	c.121-10G>A (n.121-10G>A)	gnomAD v4
20	g.3083189G>A	CA2651674867	AVP	c.121-11C>T (n.121-11C>T)	gnomAD v4
20	g.3083189G>C	CA310943385	AVP	c.121-11C>G (n.121-11C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20	g.3083189G=	CA2346405623	AVP	c.121-11C= (n.121-11C=)
20	g.3083189G>T	CA634328929	AVP	c.121-11C>A (n.121-11C>A)	dbSNP gnomAD v2 gnomAD v4
20	g.3083190G>A	CA9739471	AVP	c.121-12C>T (n.121-12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.3083190G>C	CA2651674868	AVP	c.121-12C>G (n.121-12C>G)	gnomAD v4
20	g.3083190G=	CA2346405624	AVP	c.121-12C= (n.121-12C=)
20	g.3083190G>T	CA2651674869	AVP	c.121-12C>A (n.121-12C>A)	gnomAD v4
20	g.3083191G>A	CA2651674870	AVP	c.121-13C>T (n.121-13C>T)	gnomAD v4
20	g.3083191G>T	CA2651674871	AVP	c.121-13C>A (n.121-13C>A)	gnomAD v4
20	g.3083192del	CA2651674872	AVP	c.121-14del (n.121-14del)	gnomAD v4
20	g.3083192C>A	CA2651674874	AVP	c.121-14G>T (n.121-14G>T)	gnomAD v4
20	g.3083192C>T	CA2651674873	AVP	c.121-14G>A (n.121-14G>A)	dbSNP gnomAD v4
20	g.3083193G>A	CA2346405626	AVP	c.121-15C>T (n.121-15C>T)	dbSNP gnomAD v4
20	g.3083193G=	CA2346405625	AVP	c.121-15C= (n.121-15C=)
20	g.3083193G>T	CA2651674876	AVP	c.121-15C>A (n.121-15C>A)	gnomAD v4
20	g.3083196del	CA2651674875	AVP	c.121-15del (n.121-15del)	gnomAD v4
20	g.3083194G>A	CA634328930	AVP	c.121-16C>T (n.121-16C>T)	dbSNP gnomAD v2 gnomAD v4
20	g.3083194G=	CA2346405627	AVP	c.121-16C= (n.121-16C=)
20	g.3083194G>T	CA2651674877	AVP	c.121-16C>A (n.121-16C>A)	gnomAD v4
20	g.3083195G>A	CA310943390	AVP	c.121-17C>T (n.121-17C>T)	dbSNP gnomAD v3 gnomAD v4
20	g.3083195G>C	CA2651674878	AVP	c.121-17C>G (n.121-17C>G)	gnomAD v4
20	g.3083195G=	CA2346405628	AVP	c.121-17C= (n.121-17C=)
20	g.3083195G>T	CA2651674879	AVP	c.121-17C>A (n.121-17C>A)	gnomAD v4
20	g.3083196G>A	CA2651674880	AVP	c.121-18C>T (n.121-18C>T)	gnomAD v4
20	g.3083196G>C	CA2346405630	AVP	c.121-18C>G (n.121-18C>G)	dbSNP
20	g.3083196G=	CA2346405629	AVP	c.121-18C= (n.121-18C=)
20	g.3083196G>T	CA2651674881	AVP	c.121-18C>A (n.121-18C>A)	gnomAD v4

Number of alleles fetched