Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77156675_77156842delinsAGCA2573147717MYO7Ac.486_593-20delinsAG
c.453_560-20delinsAG
c.228_335-20delinsAG
n.806_913-20delinsAG
n.808_915-20delinsAG
c.576_683-20delinsAG
n.591_698-20delinsAG
 ClinVar dbSNP
11g.77156681G>ACA475886880MYO7Ac.492G>A (p.Lys164=)
c.459G>A (p.Lys153=)
c.234G>A (p.Lys78=)
n.812G>A
n.814G>A
c.582G>A (p.Lys194=)
n.597G>A
11g.77156681G>CCA381931780MYO7Ac.492G>C (p.Lys164Asn)
c.459G>C (p.Lys153Asn)
c.234G>C (p.Lys78Asn)
n.812G>C
n.814G>C
c.582G>C (p.Lys194Asn)
n.597G>C
 ClinVar dbSNP
11g.77156681G=CA1984095176MYO7Ac.492G= (p.Lys164=)
c.459G= (p.Lys153=)
c.234G= (p.Lys78=)
n.812G=
n.814G=
c.582G= (p.Lys194=)
n.597G=
11g.77156681G>TCA381931779MYO7Ac.492G>T (p.Lys164Asn)
c.459G>T (p.Lys153Asn)
c.234G>T (p.Lys78Asn)
n.812G>T
n.814G>T
c.582G>T (p.Lys194Asn)
n.597G>T
11g.77156682A>CCA381931781MYO7Ac.493A>C (p.Thr165Pro)
c.460A>C (p.Thr154Pro)
c.235A>C (p.Thr79Pro)
n.813A>C
n.815A>C
c.583A>C (p.Thr195Pro)
n.598A>C
11g.77156682A>GCA381931782MYO7Ac.493A>G (p.Thr165Ala)
c.460A>G (p.Thr154Ala)
c.235A>G (p.Thr79Ala)
n.813A>G
n.815A>G
c.583A>G (p.Thr195Ala)
n.598A>G
11g.77156682A>TCA381931783MYO7Ac.493A>T (p.Thr165Ser)
c.460A>T (p.Thr154Ser)
c.235A>T (p.Thr79Ser)
n.813A>T
n.815A>T
c.583A>T (p.Thr195Ser)
n.598A>T
11g.77156683C>ACA381931784MYO7Ac.494C>A (p.Thr165Lys)
c.461C>A (p.Thr154Lys)
c.236C>A (p.Thr79Lys)
n.814C>A
n.816C>A
c.584C>A (p.Thr195Lys)
n.599C>A
 gnomAD v4
11g.77156683C=CA1984095185MYO7Ac.494C= (p.Thr165=)
c.461C= (p.Thr154=)
c.236C= (p.Thr79=)
n.814C=
n.816C=
c.584C= (p.Thr195=)
n.599C=
11g.77156683C>GCA381931785MYO7Ac.494C>G (p.Thr165Arg)
c.461C>G (p.Thr154Arg)
c.236C>G (p.Thr79Arg)
n.814C>G
n.816C>G
c.584C>G (p.Thr195Arg)
n.599C>G
11g.77156683C>TCA278676MYO7Ac.494C>T (p.Thr165Met)
c.461C>T (p.Thr154Met)
c.236C>T (p.Thr79Met)
n.814C>T
n.816C>T
c.584C>T (p.Thr195Met)
n.599C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156683_77156684delinsCGCA1984095184MYO7Ac.494_495delinsCG (p.Thr165=)
c.461_462delinsCG (p.Thr154=)
c.236_237delinsCG (p.Thr79=)
n.814_815delinsCG
n.816_817delinsCG
c.584_585delinsCG (p.Thr195=)
n.599_600delinsCG
11g.77156684G>ACA6197158MYO7Ac.495G>A (p.Thr165=)
c.462G>A (p.Thr154=)
c.237G>A (p.Thr79=)
n.815G>A
n.817G>A
c.585G>A (p.Thr195=)
n.600G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156684G>CCA475886893MYO7Ac.495G>C (p.Thr165=)
c.462G>C (p.Thr154=)
c.237G>C (p.Thr79=)
n.815G>C
n.817G>C
c.585G>C (p.Thr195=)
n.600G>C
11g.77156684G=CA1984095201MYO7Ac.495G= (p.Thr165=)
c.462G= (p.Thr154=)
c.237G= (p.Thr79=)
n.815G=
n.817G=
c.585G= (p.Thr195=)
n.600G=
11g.77156684G>TCA475886891MYO7Ac.495G>T (p.Thr165=)
c.462G>T (p.Thr154=)
c.237G>T (p.Thr79=)
n.815G>T
n.817G>T
c.585G>T (p.Thr195=)
n.600G>T
11g.77156685delCA278677MYO7Ac.496del (p.Glu166ArgfsTer5)
c.463del (p.Glu155ArgfsTer5)
c.238del (p.Glu80ArgfsTer5)
n.816del
n.818del
c.586del (p.Glu196ArgfsTer5)
n.601del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156685G>ACA381931786MYO7Ac.496G>A (p.Glu166Lys)
c.463G>A (p.Glu155Lys)
c.238G>A (p.Glu80Lys)
n.816G>A
n.818G>A
c.586G>A (p.Glu196Lys)
n.601G>A
11g.77156685G>CCA381931787MYO7Ac.496G>C (p.Glu166Gln)
c.463G>C (p.Glu155Gln)
c.238G>C (p.Glu80Gln)
n.816G>C
n.818G>C
c.586G>C (p.Glu196Gln)
n.601G>C
11g.77156685G=CA1984095216MYO7Ac.496G= (p.Glu166=)
c.463G= (p.Glu155=)
c.238G= (p.Glu80=)
n.816G=
n.818G=
c.586G= (p.Glu196=)
n.601G=
11g.77156685G>TCA381931788MYO7Ac.496G>T (p.Glu166Ter)
c.463G>T (p.Glu155Ter)
c.238G>T (p.Glu80Ter)
n.816G>T
n.818G>T
c.586G>T (p.Glu196Ter)
n.601G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156686A>CCA381931789MYO7Ac.497A>C (p.Glu166Ala)
c.464A>C (p.Glu155Ala)
c.239A>C (p.Glu80Ala)
n.817A>C
n.819A>C
c.587A>C (p.Glu196Ala)
n.602A>C
11g.77156686A>GCA381931790MYO7Ac.497A>G (p.Glu166Gly)
c.464A>G (p.Glu155Gly)
c.239A>G (p.Glu80Gly)
n.817A>G
n.819A>G
c.587A>G (p.Glu196Gly)
n.602A>G
11g.77156686A>TCA381931791MYO7Ac.497A>T (p.Glu166Val)
c.464A>T (p.Glu155Val)
c.239A>T (p.Glu80Val)
n.817A>T
n.819A>T
c.587A>T (p.Glu196Val)
n.602A>T
11g.77156687G>ACA475886901MYO7Ac.498G>A (p.Glu166=)
c.465G>A (p.Glu155=)
c.240G>A (p.Glu80=)
n.818G>A
n.820G>A
c.588G>A (p.Glu196=)
n.603G>A
 ClinVar dbSNP
11g.77156687G>CCA381931792MYO7Ac.498G>C (p.Glu166Asp)
c.465G>C (p.Glu155Asp)
c.240G>C (p.Glu80Asp)
n.818G>C
n.820G>C
c.588G>C (p.Glu196Asp)
n.603G>C
11g.77156687G>TCA381931793MYO7Ac.498G>T (p.Glu166Asp)
c.465G>T (p.Glu155Asp)
c.240G>T (p.Glu80Asp)
n.818G>T
n.820G>T
c.588G>T (p.Glu196Asp)
n.603G>T
11g.77156688A>CCA381931794MYO7Ac.499A>C (p.Ser167Arg)
c.466A>C (p.Ser156Arg)
c.241A>C (p.Ser81Arg)
n.819A>C
n.821A>C
c.589A>C (p.Ser197Arg)
n.604A>C
11g.77156688A>GCA381931795MYO7Ac.499A>G (p.Ser167Gly)
c.466A>G (p.Ser156Gly)
c.241A>G (p.Ser81Gly)
n.819A>G
n.821A>G
c.589A>G (p.Ser197Gly)
n.604A>G
11g.77156688A>TCA381931796MYO7Ac.499A>T (p.Ser167Cys)
c.466A>T (p.Ser156Cys)
c.241A>T (p.Ser81Cys)
n.819A>T
n.821A>T
c.589A>T (p.Ser197Cys)
n.604A>T
11g.77156689G>ACA381931798MYO7Ac.500G>A (p.Ser167Asn)
c.467G>A (p.Ser156Asn)
c.242G>A (p.Ser81Asn)
n.820G>A
n.822G>A
c.590G>A (p.Ser197Asn)
n.605G>A
 gnomAD v4
11g.77156689G>CCA10605557MYO7Ac.500G>C (p.Ser167Thr)
c.467G>C (p.Ser156Thr)
c.242G>C (p.Ser81Thr)
n.820G>C
n.822G>C
c.590G>C (p.Ser197Thr)
n.605G>C
 ClinVar dbSNP
11g.77156689G=CA1984095223MYO7Ac.500G= (p.Ser167=)
c.467G= (p.Ser156=)
c.242G= (p.Ser81=)
n.820G=
n.822G=
c.590G= (p.Ser197=)
n.605G=
11g.77156689G>TCA381931797MYO7Ac.500G>T (p.Ser167Ile)
c.467G>T (p.Ser156Ile)
c.242G>T (p.Ser81Ile)
n.820G>T
n.822G>T
c.590G>T (p.Ser197Ile)
n.605G>T
11g.77156690C>ACA381931799MYO7Ac.501C>A (p.Ser167Arg)
c.468C>A (p.Ser156Arg)
c.243C>A (p.Ser81Arg)
n.821C>A
n.823C>A
c.591C>A (p.Ser197Arg)
n.606C>A
 COSMIC
11g.77156690C>GCA381931800MYO7Ac.501C>G (p.Ser167Arg)
c.468C>G (p.Ser156Arg)
c.243C>G (p.Ser81Arg)
n.821C>G
n.823C>G
c.591C>G (p.Ser197Arg)
n.606C>G
11g.77156690C>TCA475886906MYO7Ac.501C>T (p.Ser167=)
c.468C>T (p.Ser156=)
c.243C>T (p.Ser81=)
n.821C>T
n.823C>T
c.591C>T (p.Ser197=)
n.606C>T
11g.77156691A=CA1984095232MYO7Ac.502A= (p.Thr168=)
c.469A= (p.Thr157=)
c.244A= (p.Thr82=)
n.822A=
n.824A=
c.592A= (p.Thr198=)
n.607A=
11g.77156691A>CCA381931801MYO7Ac.502A>C (p.Thr168Pro)
c.469A>C (p.Thr157Pro)
c.244A>C (p.Thr82Pro)
n.822A>C
n.824A>C
c.592A>C (p.Thr198Pro)
n.607A>C
11g.77156691A>GCA381931802MYO7Ac.502A>G (p.Thr168Ala)
c.469A>G (p.Thr157Ala)
c.244A>G (p.Thr82Ala)
n.822A>G
n.824A>G
c.592A>G (p.Thr198Ala)
n.607A>G
 COSMIC
11g.77156691A>TCA381931803MYO7Ac.502A>T (p.Thr168Ser)
c.469A>T (p.Thr157Ser)
c.244A>T (p.Thr82Ser)
n.822A>T
n.824A>T
c.592A>T (p.Thr198Ser)
n.607A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77156692C>ACA381931804MYO7Ac.503C>A (p.Thr168Lys)
c.470C>A (p.Thr157Lys)
c.245C>A (p.Thr82Lys)
n.823C>A
n.825C>A
c.593C>A (p.Thr198Lys)
n.608C>A
11g.77156692C>GCA381931805MYO7Ac.503C>G (p.Thr168Arg)
c.470C>G (p.Thr157Arg)
c.245C>G (p.Thr82Arg)
n.823C>G
n.825C>G
c.593C>G (p.Thr198Arg)
n.608C>G
11g.77156692C>TCA381931806MYO7Ac.503C>T (p.Thr168Ile)
c.470C>T (p.Thr157Ile)
c.245C>T (p.Thr82Ile)
n.823C>T
n.825C>T
c.593C>T (p.Thr198Ile)
n.608C>T
11g.77156693A=CA1984095234MYO7Ac.504A= (p.Thr168=)
c.471A= (p.Thr157=)
c.246A= (p.Thr82=)
n.824A=
n.826A=
c.594A= (p.Thr198=)
n.609A=
11g.77156693A>CCA475886911MYO7Ac.504A>C (p.Thr168=)
c.471A>C (p.Thr157=)
c.246A>C (p.Thr82=)
n.824A>C
n.826A>C
c.594A>C (p.Thr198=)
n.609A>C
11g.77156693A>GCA475886916MYO7Ac.504A>G (p.Thr168=)
c.471A>G (p.Thr157=)
c.246A>G (p.Thr82=)
n.824A>G
n.826A>G
c.594A>G (p.Thr198=)
n.609A>G
 dbSNP gnomAD v2 gnomAD v4
11g.77156693A>TCA475886912MYO7Ac.504A>T (p.Thr168=)
c.471A>T (p.Thr157=)
c.246A>T (p.Thr82=)
n.824A>T
n.826A>T
c.594A>T (p.Thr198=)
n.609A>T
11g.77156694A=CA1984095238MYO7Ac.505A= (p.Lys169=)
c.472A= (p.Lys158=)
c.247A= (p.Lys83=)
n.825A=
n.827A=
c.595A= (p.Lys199=)
n.610A=

Number of alleles fetched