Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20188978_20189023dup	CA913191089	GJB2	c.560_605dup (p.Cys202Ter)	ClinVar dbSNP gnomAD v4
13	g.20189013_20189016del	CA2622252268	GJB2	c.568_571del (p.Val190SerfsTer5)	ClinVar gnomAD v4
13	g.20189012G>A	CA483153821	GJB2	c.570C>T (p.Val190=)	ClinVar dbSNP gnomAD v4
13	g.20189012G>C	CA483153822	GJB2	c.570C>G (p.Val190=)
13	g.20189012G=	CA2077138838	GJB2	c.570C= (p.Val190=)
13	g.20189012G>T	CA483153823	GJB2	c.570C>A (p.Val190=)
13	g.20189013A=	CA2077138843	GJB2	c.569T= (p.Val190=)
13	g.20189013A>C	CA387460881	GJB2	c.569T>G (p.Val190Gly)
13	g.20189013A>G	CA387460880	GJB2	c.569T>C (p.Val190Ala)
13	g.20189013A>T	CA387460879	GJB2	c.569T>A (p.Val190Asp)	ClinVar dbSNP gnomAD v4
13	g.20189014C>A	CA387460882	GJB2	c.568G>T (p.Val190Phe)
13	g.20189014C>G	CA387460883	GJB2	c.568G>C (p.Val190Leu)
13	g.20189014C>T	CA387460884	GJB2	c.568G>A (p.Val190Ile)
13	g.20189015A=	CA2077138852	GJB2	c.567T= (p.Thr189=)
13	g.20189015A>C	CA246459834	GJB2	c.567T>G (p.Thr189=)	dbSNP gnomAD v2 gnomAD v4
13	g.20189015A>G	CA483153824	GJB2	c.567T>C (p.Thr189=)	ClinVar
13	g.20189015A>T	CA483153825	GJB2	c.567T>A (p.Thr189=)	dbSNP
13	g.20189016G>A	CA387460885	GJB2	c.566C>T (p.Thr189Ile)
13	g.20189016G>C	CA387460886	GJB2	c.566C>G (p.Thr189Ser)	dbSNP gnomAD v4
13	g.20189016G=	CA2077138856	GJB2	c.566C= (p.Thr189=)
13	g.20189016G>T	CA134987	GJB2	c.566C>A (p.Thr189Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189016_20189018delinsGTC	CA2077138861	GJB2	c.564_566delinsGAC (p.Lys188=)
13	g.20189017T>A	CA387460889	GJB2	c.565A>T (p.Thr189Ser)
13	g.20189017T>C	CA387460888	GJB2	c.565A>G (p.Thr189Ala)	gnomAD v4
13	g.20189017T>G	CA387460887	GJB2	c.565A>C (p.Thr189Pro)
13	g.20189018_20189019del	CA6904235	GJB2	c.564_565del (p.Lys188AsnfsTer21)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189018C>A	CA387460890	GJB2	c.564G>T (p.Lys188Asn)
13	g.20189018C>G	CA387460891	GJB2	c.564G>C (p.Lys188Asn)
13	g.20189018C>T	CA483153827	GJB2	c.564G>A (p.Lys188=)
13	g.20189019T>A	CA387460892	GJB2	c.563A>T (p.Lys188Met)
13	g.20189019T>C	CA387460893	GJB2	c.563A>G (p.Lys188Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189019T>G	CA387460894	GJB2	c.563A>C (p.Lys188Thr)
13	g.20189019T=	CA2077138869	GJB2	c.563A= (p.Lys188=)
13	g.20189020T>A	CA387460897	GJB2	c.562A>T (p.Lys188Ter)	gnomAD v4
13	g.20189020T>C	CA387460895	GJB2	c.562A>G (p.Lys188Glu)
13	g.20189020T>G	CA387460896	GJB2	c.562A>C (p.Lys188Gln)
13	g.20189021C>A	CA387460898	GJB2	c.561G>T (p.Glu187Asp)
13	g.20189021C=	CA2077138879	GJB2	c.561G= (p.Glu187=)
13	g.20189021C>G	CA387460899	GJB2	c.561G>C (p.Glu187Asp)
13	g.20189021C>T	CA6904236	GJB2	c.561G>A (p.Glu187=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189022_20189024del	CA2695217655	GJB2	c.559_561del (p.Glu187del)
13	g.20189022T>A	CA387460900	GJB2	c.560A>T (p.Glu187Val)
13	g.20189022T>C	CA387460901	GJB2	c.560A>G (p.Glu187Gly)	ClinVar dbSNP
13	g.20189022T>G	CA387460902	GJB2	c.560A>C (p.Glu187Ala)
13	g.20189022T=	CA2077138884	GJB2	c.560A= (p.Glu187=)
13	g.20189023C>A	CA387460903	GJB2	c.559G>T (p.Glu187Ter)
13	g.20189023C>G	CA387460904	GJB2	c.559G>C (p.Glu187Gln)
13	g.20189023C>T	CA387460905	GJB2	c.559G>A (p.Glu187Lys)	COSMIC
13	g.20189024C>A	CA483153831	GJB2	c.558G>T (p.Thr186=)
13	g.20189024C=	CA2077138889	GJB2	c.558G= (p.Thr186=)
13	g.20189024C>G	CA483153832	GJB2	c.558G>C (p.Thr186=)
13	g.20189024C>T	CA6904237	GJB2	c.558G>A (p.Thr186=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189025G>A	CA6904238	GJB2	c.557C>T (p.Thr186Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189025G>C	CA387460906	GJB2	c.557C>G (p.Thr186Arg)
13	g.20189025G=	CA2077138893	GJB2	c.557C= (p.Thr186=)
13	g.20189025G>T	CA387460907	GJB2	c.557C>A (p.Thr186Lys)	ClinVar
13	g.20189026T>A	CA387460908	GJB2	c.556A>T (p.Thr186Ser)
13	g.20189026T>C	CA246459866	GJB2	c.556A>G (p.Thr186Ala)	dbSNP gnomAD v4
13	g.20189026T>G	CA387460909	GJB2	c.556A>C (p.Thr186Pro)
13	g.20189026T=	CA2077138895	GJB2	c.556A= (p.Thr186=)
13	g.20189027G>A	CA6904239	GJB2	c.555C>T (p.Pro185=)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189027G>C	CA483153834	GJB2	c.555C>G (p.Pro185=)
13	g.20189027G=	CA2077138898	GJB2	c.555C= (p.Pro185=)
13	g.20189027G>T	CA483153837	GJB2	c.555C>A (p.Pro185=)
13	g.20189028G>A	CA387460910	GJB2	c.554C>T (p.Pro185Leu)
13	g.20189028G>C	CA387460911	GJB2	c.554C>G (p.Pro185Arg)
13	g.20189028G>T	CA387460912	GJB2	c.554C>A (p.Pro185His)
13	g.20189029G>A	CA387460913	GJB2	c.553C>T (p.Pro185Ser)
13	g.20189029G>C	CA387460914	GJB2	c.553C>G (p.Pro185Ala)
13	g.20189029G>T	CA387460915	GJB2	c.553C>A (p.Pro185Thr)
13	g.20189030C>A	CA483153840	GJB2	c.552G>T (p.Arg184=)
13	g.20189030C>G	CA483153841	GJB2	c.552G>C (p.Arg184=)
13	g.20189030C>T	CA483153842	GJB2	c.552G>A (p.Arg184=)	ClinVar dbSNP gnomAD v4
13	g.20189031C>A	CA387460916	GJB2	c.551G>T (p.Arg184Leu)
13	g.20189031C=	CA2077138903	GJB2	c.551G= (p.Arg184=)
13	g.20189031C>G	CA341438	GJB2	c.551G>C (p.Arg184Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189031C>T	CA172235	GJB2	c.551G>A (p.Arg184Gln)	ClinVar dbSNP
13	g.20189032G>A	CA246459909	GJB2	c.550C>T (p.Arg184Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189032G>C	CA387460917	GJB2	c.550C>G (p.Arg184Gly)
13	g.20189032G=	CA2077138906	GJB2	c.550C= (p.Arg184=)
13	g.20189032G>T	CA483153843	GJB2	c.550C>A (p.Arg184=)
13	g.20189033G>A	CA483153845	GJB2	c.549C>T (p.Ser183=)
13	g.20189033G>C	CA483153846	GJB2	c.549C>G (p.Ser183=)
13	g.20189033G>T	CA483153844	GJB2	c.549C>A (p.Ser183=)
13	g.20189034G>A	CA387460920	GJB2	c.548C>T (p.Ser183Phe)	ClinVar
13	g.20189034G>C	CA387460919	GJB2	c.548C>G (p.Ser183Cys)
13	g.20189034G>T	CA387460918	GJB2	c.548C>A (p.Ser183Tyr)
13	g.20189035A>C	CA387460921	GJB2	c.547T>G (p.Ser183Ala)
13	g.20189035A>G	CA387460922	GJB2	c.547T>C (p.Ser183Pro)
13	g.20189035A>T	CA387460923	GJB2	c.547T>A (p.Ser183Thr)
13	g.20189036C>A	CA483153850	GJB2	c.546G>T (p.Val182=)	ClinVar
13	g.20189036C=	CA2077138912	GJB2	c.546G= (p.Val182=)
13	g.20189036C>G	CA483153851	GJB2	c.546G>C (p.Val182=)
13	g.20189036C>T	CA6904240	GJB2	c.546G>A (p.Val182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189037A>C	CA387460924	GJB2	c.545T>G (p.Val182Gly)
13	g.20189037A>G	CA387460925	GJB2	c.545T>C (p.Val182Ala)
13	g.20189037A>T	CA387460926	GJB2	c.545T>A (p.Val182Glu)
13	g.20189038C>A	CA387460927	GJB2	c.544G>T (p.Val182Leu)
13	g.20189038C>G	CA387460928	GJB2	c.544G>C (p.Val182Leu)
13	g.20189038C>T	CA387460929	GJB2	c.544G>A (p.Val182Met)
13	g.20189039A=	CA2077138917	GJB2	c.543T= (p.Phe181=)
13	g.20189039A>C	CA387460930	GJB2	c.543T>G (p.Phe181Leu)	dbSNP gnomAD v3 gnomAD v4
13	g.20189039A>G	CA483153856	GJB2	c.543T>C (p.Phe181=)
13	g.20189039A>T	CA387460931	GJB2	c.543T>A (p.Phe181Leu)
13	g.20189040A>C	CA387460932	GJB2	c.542T>G (p.Phe181Cys)
13	g.20189040A>G	CA387460934	GJB2	c.542T>C (p.Phe181Ser)
13	g.20189040A>T	CA387460933	GJB2	c.542T>A (p.Phe181Tyr)
13	g.20189041A=	CA2077138919	GJB2	c.541T= (p.Phe181=)
13	g.20189041A>C	CA387460935	GJB2	c.541T>G (p.Phe181Val)
13	g.20189041A>G	CA387460937	GJB2	c.541T>C (p.Phe181Leu)
13	g.20189041A>T	CA387460936	GJB2	c.541T>A (p.Phe181Ile)	dbSNP
13	g.20189042G>A	CA483153857	GJB2	c.540C>T (p.Cys180=)	gnomAD v4
13	g.20189042G>C	CA387460938	GJB2	c.540C>G (p.Cys180Trp)
13	g.20189042G>T	CA387460939	GJB2	c.540C>A (p.Cys180Ter)
13	g.20189043C>A	CA387460940	GJB2	c.539G>T (p.Cys180Phe)	dbSNP gnomAD v2 gnomAD v4
13	g.20189043C=	CA2077138922	GJB2	c.539G= (p.Cys180=)
13	g.20189043C>G	CA387460942	GJB2	c.539G>C (p.Cys180Ser)
13	g.20189043C>T	CA387460941	GJB2	c.539G>A (p.Cys180Tyr)	dbSNP gnomAD v2 gnomAD v4
13	g.20189044A>C	CA387460943	GJB2	c.538T>G (p.Cys180Gly)
13	g.20189044A>G	CA387460945	GJB2	c.538T>C (p.Cys180Arg)
13	g.20189044A>T	CA387460944	GJB2	c.538T>A (p.Cys180Ser)
13	g.20189045G>A	CA6904241	GJB2	c.537C>T (p.Asp179=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189045G>C	CA387460946	GJB2	c.537C>G (p.Asp179Glu)
13	g.20189045G=	CA2077138927	GJB2	c.537C= (p.Asp179=)
13	g.20189045G>T	CA387460947	GJB2	c.537C>A (p.Asp179Glu)
13	g.20189046T>A	CA387460948	GJB2	c.536A>T (p.Asp179Val)
13	g.20189046T>C	CA387460949	GJB2	c.536A>G (p.Asp179Gly)
13	g.20189046T>G	CA387460950	GJB2	c.536A>C (p.Asp179Ala)
13	g.20189047C>A	CA6904242	GJB2	c.535G>T (p.Asp179Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189047C=	CA2077138930	GJB2	c.535G= (p.Asp179=)
13	g.20189047C>G	CA387460951	GJB2	c.535G>C (p.Asp179His)	ClinVar dbSNP gnomAD v4
13	g.20189047C>T	CA257681	GJB2	c.535G>A (p.Asp179Asn)	ClinVar dbSNP
13	g.20189048del	CA2622252279	GJB2	c.535del (p.Asp179ThrfsTer17)	gnomAD v4
13	g.20189048C>A	CA483153862	GJB2	c.534G>T (p.Val178=)
13	g.20189048C=	CA2077138936	GJB2	c.534G= (p.Val178=)
13	g.20189048C>G	CA483153863	GJB2	c.534G>C (p.Val178=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189048C>T	CA483153864	GJB2	c.534G>A (p.Val178=)
13	g.20189048_20189059delinsCACAGTGTTGGG	CA2077138937	GJB2	c.523_534delinsCCCAACACTGTG (p.Pro175=)
13	g.20189049A=	CA2077138941	GJB2	c.533T= (p.Val178=)
13	g.20189049A>C	CA387460953	GJB2	c.533T>G (p.Val178Gly)
13	g.20189049A>G	CA6904243	GJB2	c.533T>C (p.Val178Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189049A>T	CA387460952	GJB2	c.533T>A (p.Val178Glu)
13	g.20189052_20189062del	CA10576936	GJB2	c.523_533del (p.Pro175GlyfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189050C>A	CA387460954	GJB2	c.532G>T (p.Val178Leu)	ClinVar dbSNP
13	g.20189050C=	CA2077138942	GJB2	c.532G= (p.Val178=)
13	g.20189050C>G	CA387460955	GJB2	c.532G>C (p.Val178Leu)
13	g.20189050C>T	CA387460956	GJB2	c.532G>A (p.Val178Met)	dbSNP COSMIC
13	g.20189053_20189069del	CA2695217656	GJB2	c.516_532del (p.Trp172CysfsTer?)
13	g.20189051A=	CA2077138944	GJB2	c.531T= (p.Thr177=)
13	g.20189051A>C	CA483153869	GJB2	c.531T>G (p.Thr177=)	dbSNP gnomAD v3 gnomAD v4
13	g.20189051A>G	CA483153870	GJB2	c.531T>C (p.Thr177=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189051A>T	CA483153871	GJB2	c.531T>A (p.Thr177=)	gnomAD v4
13	g.20189052G>A	CA387460957	GJB2	c.530C>T (p.Thr177Ile)	gnomAD v4
13	g.20189052G>C	CA387460958	GJB2	c.530C>G (p.Thr177Ser)
13	g.20189052G>T	CA387460959	GJB2	c.530C>A (p.Thr177Asn)
13	g.20189053T>A	CA387460960	GJB2	c.529A>T (p.Thr177Ser)
13	g.20189053T>C	CA6904244	GJB2	c.529A>G (p.Thr177Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189053T>G	CA387460961	GJB2	c.529A>C (p.Thr177Pro)
13	g.20189053T=	CA2077138947	GJB2	c.529A= (p.Thr177=)
13	g.20189054G>A	CA483153873	GJB2	c.528C>T (p.Asn176=)	gnomAD v4
13	g.20189054G>C	CA387460962	GJB2	c.528C>G (p.Asn176Lys)
13	g.20189054G>T	CA387460963	GJB2	c.528C>A (p.Asn176Lys)	ClinVar
13	g.20189055T>A	CA387460965	GJB2	c.527A>T (p.Asn176Ile)
13	g.20189055T>C	CA387460966	GJB2	c.527A>G (p.Asn176Ser)	ClinVar dbSNP gnomAD v4
13	g.20189055T>G	CA387460964	GJB2	c.527A>C (p.Asn176Thr)
13	g.20189055T=	CA2077138948	GJB2	c.527A= (p.Asn176=)
13	g.20189056T>A	CA387460967	GJB2	c.526A>T (p.Asn176Tyr)
13	g.20189056T>C	CA6904245	GJB2	c.526A>G (p.Asn176Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189056T>G	CA387460968	GJB2	c.526A>C (p.Asn176His)
13	g.20189056T=	CA2077138951	GJB2	c.526A= (p.Asn176=)
13	g.20189057G>A	CA483153876	GJB2	c.525C>T (p.Pro175=)
13	g.20189057G>C	CA483153875	GJB2	c.525C>G (p.Pro175=)
13	g.20189057G=	CA2077138953	GJB2	c.525C= (p.Pro175=)
13	g.20189057G>T	CA6904246	GJB2	c.525C>A (p.Pro175=)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189058G>A	CA387460969	GJB2	c.524C>T (p.Pro175Leu)
13	g.20189058G>C	CA387460970	GJB2	c.524C>G (p.Pro175Arg)	ClinVar dbSNP gnomAD v4
13	g.20189058G>T	CA387460971	GJB2	c.524C>A (p.Pro175His)
13	g.20189059G>A	CA387460972	GJB2	c.523C>T (p.Pro175Ser)
13	g.20189059G>C	CA387460973	GJB2	c.523C>G (p.Pro175Ala)
13	g.20189059G>T	CA387460974	GJB2	c.523C>A (p.Pro175Thr)
13	g.20189060A>C	CA387460975	GJB2	c.522T>G (p.Cys174Trp)
13	g.20189060A>G	CA483153879	GJB2	c.522T>C (p.Cys174=)	ClinVar dbSNP gnomAD v4
13	g.20189060A>T	CA387460976	GJB2	c.522T>A (p.Cys174Ter)
13	g.20189060_20189073del	CA2695217657	GJB2	c.509_522del (p.Asn170ThrfsTer?)
13	g.20189061C>A	CA387460979	GJB2	c.521G>T (p.Cys174Phe)
13	g.20189061C>G	CA387460977	GJB2	c.521G>C (p.Cys174Ser)
13	g.20189061C>T	CA387460978	GJB2	c.521G>A (p.Cys174Tyr)
13	g.20189062A>C	CA387460980	GJB2	c.520T>G (p.Cys174Gly)
13	g.20189062A>G	CA387460981	GJB2	c.520T>C (p.Cys174Arg)
13	g.20189062A>T	CA387460982	GJB2	c.520T>A (p.Cys174Ser)
13	g.20189063A=	CA2077138957	GJB2	c.519T= (p.Pro173=)
13	g.20189063A>C	CA483153880	GJB2	c.519T>G (p.Pro173=)
13	g.20189063A>G	CA483153881	GJB2	c.519T>C (p.Pro173=)	dbSNP
13	g.20189063A>T	CA483153882	GJB2	c.519T>A (p.Pro173=)
13	g.20189064G>A	CA387460983	GJB2	c.518C>T (p.Pro173Leu)	ClinVar dbSNP COSMIC
13	g.20189064G>C	CA387460984	GJB2	c.518C>G (p.Pro173Arg)	ClinVar
13	g.20189064G=	CA2077138963	GJB2	c.518C= (p.Pro173=)
13	g.20189064G>T	CA387460985	GJB2	c.518C>A (p.Pro173His)
13	g.20189065G>A	CA387460986	GJB2	c.517C>T (p.Pro173Ser)	ClinVar dbSNP
13	g.20189065G>C	CA387460987	GJB2	c.517C>G (p.Pro173Ala)
13	g.20189065G=	CA2077138968	GJB2	c.517C= (p.Pro173=)
13	g.20189065G>T	CA387460988	GJB2	c.517C>A (p.Pro173Thr)
13	g.20189066C>A	CA387460989	GJB2	c.516G>T (p.Trp172Cys)
13	g.20189066C=	CA2077138974	GJB2	c.516G= (p.Trp172=)
13	g.20189066C>G	CA387460990	GJB2	c.516G>C (p.Trp172Cys)	ClinVar dbSNP
13	g.20189066C>T	CA387460991	GJB2	c.516G>A (p.Trp172Ter)	ClinVar dbSNP gnomAD v4
13	g.20189067C>A	CA387460994	GJB2	c.515G>T (p.Trp172Leu)
13	g.20189067C>G	CA387460993	GJB2	c.515G>C (p.Trp172Ser)
13	g.20189067C>T	CA387460992	GJB2	c.515G>A (p.Trp172Ter)
13	g.20189067_20189068delinsCA	CA2077138980	GJB2	c.514_515delinsTG (p.Trp172=)
13	g.20189068del	CA16041593	GJB2	c.514del (p.Trp172GlyfsTer24)	ClinVar dbSNP
13	g.20189068A=	CA2077138987	GJB2	c.514T= (p.Trp172=)
13	g.20189068A>C	CA387460995	GJB2	c.514T>G (p.Trp172Gly)
13	g.20189068A>G	CA387460996	GJB2	c.514T>C (p.Trp172Arg)
13	g.20189068A>T	CA6904247	GJB2	c.514T>A (p.Trp172Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189069G>A	CA483153887	GJB2	c.513C>T (p.Ala171=)
13	g.20189069G>C	CA483153888	GJB2	c.513C>G (p.Ala171=)	ClinVar dbSNP
13	g.20189069G>T	CA483153889	GJB2	c.513C>A (p.Ala171=)
13	g.20189069_20189070insCGTT	CA2695217659	GJB2	c.512_513insAACG (p.Trp172ThrfsTer?)
13	g.20189070G>A	CA387460997	GJB2	c.512C>T (p.Ala171Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189070G>C	CA387460998	GJB2	c.512C>G (p.Ala171Gly)
13	g.20189070G=	CA2077138993	GJB2	c.512C= (p.Ala171=)
13	g.20189070G>T	CA387460999	GJB2	c.512C>A (p.Ala171Asp)
13	g.20189071_20189072del	CA2695217658	GJB2	c.511_512del (p.Ala171LeufsTer?)
13	g.20189071C>A	CA387461000	GJB2	c.511G>T (p.Ala171Ser)	dbSNP gnomAD v4
13	g.20189071C=	CA2077139003	GJB2	c.511G= (p.Ala171=)
13	g.20189071C>G	CA387461001	GJB2	c.511G>C (p.Ala171Pro)	gnomAD v4
13	g.20189071C>T	CA134985	GJB2	c.511G>A (p.Ala171Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189071_20189074dup	CA274346	GJB2	c.508_511dup (p.Ala171GlufsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189072_20189081del	CA2695217660	GJB2	c.502_511del (p.Lys168ProfsTer25)
13	g.20189072G>A	CA6904249	GJB2	c.510C>T (p.Asn170=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189072G>C	CA387461002	GJB2	c.510C>G (p.Asn170Lys)
13	g.20189072G=	CA2077139009	GJB2	c.510C= (p.Asn170=)
13	g.20189072G>T	CA6904250	GJB2	c.510C>A (p.Asn170Lys)	dbSNP ExAC
13	g.20189073T>A	CA387461003	GJB2	c.509A>T (p.Asn170Ile)
13	g.20189073T>C	CA387461005	GJB2	c.509A>G (p.Asn170Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189073T>G	CA387461004	GJB2	c.509A>C (p.Asn170Thr)
13	g.20189073T=	CA2077139016	GJB2	c.509A= (p.Asn170=)
13	g.20189074dup	CA6904248	GJB2	c.509dup (p.Asn170LysfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189074T>A	CA387461006	GJB2	c.508A>T (p.Asn170Tyr)
13	g.20189074T>C	CA387461007	GJB2	c.508A>G (p.Asn170Asp)
13	g.20189074T>G	CA387461008	GJB2	c.508A>C (p.Asn170His)
13	g.20189075G>A	CA483153895	GJB2	c.507C>T (p.Cys169=)
13	g.20189075G>C	CA387461009	GJB2	c.507C>G (p.Cys169Trp)	gnomAD v4
13	g.20189075G>T	CA387461010	GJB2	c.507C>A (p.Cys169Ter)
13	g.20189076C>A	CA387461011	GJB2	c.506G>T (p.Cys169Phe)
13	g.20189076C=	CA2077139020	GJB2	c.506G= (p.Cys169=)
13	g.20189076C>G	CA387461012	GJB2	c.506G>C (p.Cys169Ser)
13	g.20189076C>T	CA6904251	GJB2	c.506G>A (p.Cys169Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189077A=	CA2077139024	GJB2	c.505T= (p.Cys169=)
13	g.20189077A>C	CA6904252	GJB2	c.505T>G (p.Cys169Gly)	dbSNP ExAC
13	g.20189077A>G	CA6904253	GJB2	c.505T>C (p.Cys169Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189077A>T	CA6904254	GJB2	c.505T>A (p.Cys169Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189078C>A	CA387461013	GJB2	c.504G>T (p.Lys168Asn)	gnomAD v4
13	g.20189078C>G	CA387461014	GJB2	c.504G>C (p.Lys168Asn)	gnomAD v4
13	g.20189078C>T	CA483153900	GJB2	c.504G>A (p.Lys168=)	ClinVar dbSNP
13	g.20189078_20189079insCTTC	CA2695217661	GJB2	c.504_505insAAGG (p.Cys169LysfsTer?)
13	g.20189079T>A	CA387461015	GJB2	c.503A>T (p.Lys168Met)
13	g.20189079T>C	CA134979	GJB2	c.503A>G (p.Lys168Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189079T>G	CA387461016	GJB2	c.503A>C (p.Lys168Thr)
13	g.20189079T=	CA2077139031	GJB2	c.503A= (p.Lys168=)
13	g.20189080T>A	CA387461017	GJB2	c.502A>T (p.Lys168Ter)
13	g.20189080T>C	CA6904255	GJB2	c.502A>G (p.Lys168Glu)	dbSNP ExAC gnomAD v2
13	g.20189080T>G	CA387461018	GJB2	c.502A>C (p.Lys168Gln)
13	g.20189080T=	CA2077139036	GJB2	c.502A= (p.Lys168=)
13	g.20189081C>A	CA483153903	GJB2	c.501G>T (p.Val167=)
13	g.20189081C>G	CA483153904	GJB2	c.501G>C (p.Val167=)
13	g.20189081C>T	CA483153906	GJB2	c.501G>A (p.Val167=)
13	g.20189082A=	CA2077139042	GJB2	c.500T= (p.Val167=)
13	g.20189082A>C	CA6904256	GJB2	c.500T>G (p.Val167Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189082A>G	CA387461019	GJB2	c.500T>C (p.Val167Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189082A>T	CA387461020	GJB2	c.500T>A (p.Val167Glu)
13	g.20189083C>A	CA387461021	GJB2	c.499G>T (p.Val167Leu)
13	g.20189083C=	CA2077139045	GJB2	c.499G= (p.Val167=)
13	g.20189083C>G	CA387461022	GJB2	c.499G>C (p.Val167Leu)
13	g.20189083C>T	CA134983	GJB2	c.499G>A (p.Val167Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189084C>A	CA483153907	GJB2	c.498G>T (p.Leu166=)
13	g.20189084C>G	CA483153908	GJB2	c.498G>C (p.Leu166=)
13	g.20189084C>T	CA483153909	GJB2	c.498G>A (p.Leu166=)
13	g.20189085A>C	CA387461025	GJB2	c.497T>G (p.Leu166Arg)
13	g.20189085A>G	CA387461024	GJB2	c.497T>C (p.Leu166Pro)
13	g.20189085A>T	CA387461023	GJB2	c.497T>A (p.Leu166Gln)
13	g.20189086G>A	CA483153912	GJB2	c.496C>T (p.Leu166=)
13	g.20189086G>C	CA387461026	GJB2	c.496C>G (p.Leu166Val)
13	g.20189086G>T	CA387461027	GJB2	c.496C>A (p.Leu166Met)
13	g.20189087C>A	CA483153913	GJB2	c.495G>T (p.Arg165=)
13	g.20189087C>G	CA483153914	GJB2	c.495G>C (p.Arg165=)
13	g.20189087C>T	CA483153915	GJB2	c.495G>A (p.Arg165=)
13	g.20189088dup	CA2622252281	GJB2	c.495dup (p.Leu166AlafsTer?)	gnomAD v4
13	g.20189088C>A	CA387461028	GJB2	c.494G>T (p.Arg165Leu)	gnomAD v4
13	g.20189088C=	CA2077139050	GJB2	c.494G= (p.Arg165=)
13	g.20189088C>G	CA387461029	GJB2	c.494G>C (p.Arg165Pro)	gnomAD v4
13	g.20189088C>T	CA6904257	GJB2	c.494G>A (p.Arg165Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189089G>A	CA180672	GJB2	c.493C>T (p.Arg165Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189089G>C	CA387461030	GJB2	c.493C>G (p.Arg165Gly)
13	g.20189089G=	CA2077139055	GJB2	c.493C= (p.Arg165=)
13	g.20189089G>T	CA483153916	GJB2	c.493C>A (p.Arg165=)
13	g.20189090C>A	CA387461031	GJB2	c.492G>T (p.Gln164His)
13	g.20189090C>G	CA387461032	GJB2	c.492G>C (p.Gln164His)
13	g.20189090C>T	CA483153917	GJB2	c.492G>A (p.Gln164=)
13	g.20189091T>A	CA387461033	GJB2	c.491A>T (p.Gln164Leu)
13	g.20189091T>C	CA387461034	GJB2	c.491A>G (p.Gln164Arg)
13	g.20189091T>G	CA387461035	GJB2	c.491A>C (p.Gln164Pro)
13	g.20189092G>A	CA387461037	GJB2	c.490C>T (p.Gln164Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189092G>C	CA6904258	GJB2	c.490C>G (p.Gln164Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189092G=	CA2077139058	GJB2	c.490C= (p.Gln164=)
13	g.20189092G>T	CA387461036	GJB2	c.490C>A (p.Gln164Lys)
13	g.20189093C>A	CA387461038	GJB2	c.489G>T (p.Met163Ile)
13	g.20189093C>G	CA387461040	GJB2	c.489G>C (p.Met163Ile)
13	g.20189093C>T	CA387461039	GJB2	c.489G>A (p.Met163Ile)
13	g.20189094A=	CA2077139061	GJB2	c.488T= (p.Met163=)
13	g.20189094A>C	CA387461041	GJB2	c.488T>G (p.Met163Arg)	ClinVar dbSNP
13	g.20189094A>G	CA387461043	GJB2	c.488T>C (p.Met163Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189094A>T	CA387461042	GJB2	c.488T>A (p.Met163Lys)
13	g.20189095T>A	CA387461044	GJB2	c.487A>T (p.Met163Leu)
13	g.20189095T>C	CA134981	GJB2	c.487A>G (p.Met163Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189095T>G	CA16621538	GJB2	c.487A>C (p.Met163Leu)	ClinVar dbSNP
13	g.20189095T=	CA2077139072	GJB2	c.487A= (p.Met163=)
13	g.20189095_20189137del	CA912980093	GJB2	c.445_487del (p.Ala149CysfsTer5)
13	g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC	CA2077139077	GJB2	c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA (p.Ala149=)
13	g.20189095_20189096insA	CA2695217662	GJB2	c.486_487insT (p.Met163TyrfsTer?)
13	g.20189096G>A	CA483153925	GJB2	c.486C>T (p.Ser162=)	COSMIC
13	g.20189096G>C	CA483153926	GJB2	c.486C>G (p.Ser162=)
13	g.20189096G>T	CA483153924	GJB2	c.486C>A (p.Ser162=)
13	g.20189098_20189139del	CA658823446	GJB2	c.445_486del (p.Ala149_Ser162del)	ClinVar dbSNP gnomAD v4
13	g.20189097G>A	CA387461045	GJB2	c.485C>T (p.Ser162Phe)
13	g.20189097G>C	CA387461046	GJB2	c.485C>G (p.Ser162Cys)
13	g.20189097G>T	CA387461047	GJB2	c.485C>A (p.Ser162Tyr)
13	g.20189098A=	CA2077139084	GJB2	c.484T= (p.Ser162=)
13	g.20189098A>C	CA387461048	GJB2	c.484T>G (p.Ser162Ala)
13	g.20189098A>G	CA387461049	GJB2	c.484T>C (p.Ser162Pro)
13	g.20189098A>T	CA387461050	GJB2	c.484T>A (p.Ser162Thr)
13	g.20189099G>A	CA483153929	GJB2	c.483C>T (p.Phe161=)
13	g.20189099G>C	CA387461051	GJB2	c.483C>G (p.Phe161Leu)
13	g.20189099G=	CA2077139088	GJB2	c.483C= (p.Phe161=)
13	g.20189099G>T	CA387461052	GJB2	c.483C>A (p.Phe161Leu)	dbSNP gnomAD v4
13	g.20189099_20189103dup	CA608984148	GJB2	c.479_483dup (p.Ser162AlafsTer8)	dbSNP gnomAD v2 gnomAD v4
13	g.20189100A>C	CA387461055	GJB2	c.482T>G (p.Phe161Cys)
13	g.20189100A>G	CA387461054	GJB2	c.482T>C (p.Phe161Ser)
13	g.20189100A>T	CA387461053	GJB2	c.482T>A (p.Phe161Tyr)
13	g.20189101A=	CA2077139092	GJB2	c.481T= (p.Phe161=)
13	g.20189101A>C	CA387461056	GJB2	c.481T>G (p.Phe161Val)	dbSNP gnomAD v2
13	g.20189101A>G	CA387461057	GJB2	c.481T>C (p.Phe161Leu)
13	g.20189101A>T	CA387461058	GJB2	c.481T>A (p.Phe161Ile)
13	g.20189102G>A	CA483153932	GJB2	c.480C>T (p.Gly160=)
13	g.20189102G>C	CA483153936	GJB2	c.480C>G (p.Gly160=)
13	g.20189102G>T	CA483153934	GJB2	c.480C>A (p.Gly160=)
13	g.20189103C>A	CA387461059	GJB2	c.479G>T (p.Gly160Val)
13	g.20189103C=	CA2077139095	GJB2	c.479G= (p.Gly160=)
13	g.20189103C>G	CA387461060	GJB2	c.479G>C (p.Gly160Ala)
13	g.20189103C>T	CA246460068	GJB2	c.479G>A (p.Gly160Asp)	dbSNP gnomAD v4
13	g.20189104C>A	CA387461061	GJB2	c.478G>T (p.Gly160Cys)
13	g.20189104C=	CA2077139101	GJB2	c.478G= (p.Gly160=)
13	g.20189104C>G	CA387461062	GJB2	c.478G>C (p.Gly160Arg)
13	g.20189104C>T	CA134977	GJB2	c.478G>A (p.Gly160Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189105_20189106insGCG	CA2622252282	GJB2	c.478_479insCCG (p.Asp159_Gly160insAla)	gnomAD v4
13	g.20189105G>A	CA246460077	GJB2	c.477C>T (p.Asp159=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189105G>C	CA387461063	GJB2	c.477C>G (p.Asp159Glu)
13	g.20189105G=	CA2077139105	GJB2	c.477C= (p.Asp159=)
13	g.20189105G>T	CA387461064	GJB2	c.477C>A (p.Asp159Glu)
13	g.20189106T>A	CA257680	GJB2	c.476A>T (p.Asp159Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189106T>C	CA387461066	GJB2	c.476A>G (p.Asp159Gly)
13	g.20189106T>G	CA387461065	GJB2	c.476A>C (p.Asp159Ala)
13	g.20189106T=	CA2077139110	GJB2	c.476A= (p.Asp159=)
13	g.20189107C>A	CA6904260	GJB2	c.475G>T (p.Asp159Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189107C=	CA2077139117	GJB2	c.475G= (p.Asp159=)
13	g.20189107C>G	CA387461067	GJB2	c.475G>C (p.Asp159His)
13	g.20189107C>T	CA6904259	GJB2	c.475G>A (p.Asp159Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189116_20189133dup	CA2077139122	GJB2	c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)	ClinVar dbSNP
13	g.20189108G>A	CA6904261	GJB2	c.474C>T (p.Tyr158=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189108G>C	CA387461068	GJB2	c.474C>G (p.Tyr158Ter)	ClinVar dbSNP
13	g.20189108G=	CA2077139129	GJB2	c.474C= (p.Tyr158=)
13	g.20189108G>T	CA387461069	GJB2	c.474C>A (p.Tyr158Ter)
13	g.20189109T>A	CA387461070	GJB2	c.473A>T (p.Tyr158Phe)
13	g.20189109T>C	CA387461071	GJB2	c.473A>G (p.Tyr158Cys)
13	g.20189109T>G	CA387461072	GJB2	c.473A>C (p.Tyr158Ser)
13	g.20189110A>C	CA387461073	GJB2	c.472T>G (p.Tyr158Asp)
13	g.20189110A>G	CA387461074	GJB2	c.472T>C (p.Tyr158His)
13	g.20189110A>T	CA387461075	GJB2	c.472T>A (p.Tyr158Asn)
13	g.20189111C>A	CA387461077	GJB2	c.471G>T (p.Met157Ile)
13	g.20189111C=	CA2077139136	GJB2	c.471G= (p.Met157=)
13	g.20189111C>G	CA387461076	GJB2	c.471G>C (p.Met157Ile)	gnomAD v4
13	g.20189111C>T	CA6904262	GJB2	c.471G>A (p.Met157Ile)	dbSNP ExAC gnomAD v2
13	g.20189112A=	CA2077139141	GJB2	c.470T= (p.Met157=)
13	g.20189112A>C	CA387461078	GJB2	c.470T>G (p.Met157Arg)
13	g.20189112A>G	CA184190	GJB2	c.470T>C (p.Met157Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189112A>T	CA387461079	GJB2	c.470T>A (p.Met157Lys)

Number of alleles fetched