Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77156913dupCA2615246653MYO7Ac.644dup (p.Tyr216ValfsTer18)
c.611dup (p.Tyr205ValfsTer18)
c.386dup (p.Tyr130ValfsTer18)
n.964dup
n.966dup
c.734dup (p.Tyr246ValfsTer18)
n.749dup
 gnomAD v4
11g.77156912A>CCA381932117MYO7Ac.643A>C (p.Lys215Gln)
c.610A>C (p.Lys204Gln)
c.385A>C (p.Lys129Gln)
n.963A>C
n.965A>C
c.733A>C (p.Lys245Gln)
n.748A>C
11g.77156912A>GCA381932119MYO7Ac.643A>G (p.Lys215Glu)
c.610A>G (p.Lys204Glu)
c.385A>G (p.Lys129Glu)
n.963A>G
n.965A>G
c.733A>G (p.Lys245Glu)
n.748A>G
11g.77156912A>TCA381932118MYO7Ac.643A>T (p.Lys215Ter)
c.610A>T (p.Lys204Ter)
c.385A>T (p.Lys129Ter)
n.963A>T
n.965A>T
c.733A>T (p.Lys245Ter)
n.748A>T
11g.77156913A>CCA381932120MYO7Ac.644A>C (p.Lys215Thr)
c.611A>C (p.Lys204Thr)
c.386A>C (p.Lys129Thr)
n.964A>C
n.966A>C
c.734A>C (p.Lys245Thr)
n.749A>C
 gnomAD v4
11g.77156913A>GCA381932122MYO7Ac.644A>G (p.Lys215Arg)
c.611A>G (p.Lys204Arg)
c.386A>G (p.Lys129Arg)
n.964A>G
n.966A>G
c.734A>G (p.Lys245Arg)
n.749A>G
11g.77156913A>TCA381932121MYO7Ac.644A>T (p.Lys215Met)
c.611A>T (p.Lys204Met)
c.386A>T (p.Lys129Met)
n.964A>T
n.966A>T
c.734A>T (p.Lys245Met)
n.749A>T
11g.77156914G>ACA475886899MYO7Ac.645G>A (p.Lys215=)
c.612G>A (p.Lys204=)
c.387G>A (p.Lys129=)
n.965G>A
n.967G>A
c.735G>A (p.Lys245=)
n.750G>A
11g.77156914G>CCA381932123MYO7Ac.645G>C (p.Lys215Asn)
c.612G>C (p.Lys204Asn)
c.387G>C (p.Lys129Asn)
n.965G>C
n.967G>C
c.735G>C (p.Lys245Asn)
n.750G>C
11g.77156914G>TCA381932124MYO7Ac.645G>T (p.Lys215Asn)
c.612G>T (p.Lys204Asn)
c.387G>T (p.Lys129Asn)
n.965G>T
n.967G>T
c.735G>T (p.Lys245Asn)
n.750G>T
11g.77156915T>ACA381932125MYO7Ac.646T>A (p.Tyr216Asn)
c.613T>A (p.Tyr205Asn)
c.388T>A (p.Tyr130Asn)
n.966T>A
n.968T>A
c.736T>A (p.Tyr246Asn)
n.751T>A
11g.77156915T>CCA381932126MYO7Ac.646T>C (p.Tyr216His)
c.613T>C (p.Tyr205His)
c.388T>C (p.Tyr130His)
n.966T>C
n.968T>C
c.736T>C (p.Tyr246His)
n.751T>C
11g.77156915T>GCA381932127MYO7Ac.646T>G (p.Tyr216Asp)
c.613T>G (p.Tyr205Asp)
c.388T>G (p.Tyr130Asp)
n.966T>G
n.968T>G
c.736T>G (p.Tyr246Asp)
n.751T>G
11g.77156915_77156921delinsTACATCGCA1984095902MYO7Ac.646_652delinsTACATCG (p.Tyr216=)
c.613_619delinsTACATCG (p.Tyr205=)
c.388_394delinsTACATCG (p.Tyr130=)
n.966_972delinsTACATCG
n.968_974delinsTACATCG
c.736_742delinsTACATCG (p.Tyr246=)
n.751_757delinsTACATCG
11g.77156916A>CCA381932129MYO7Ac.647A>C (p.Tyr216Ser)
c.614A>C (p.Tyr205Ser)
c.389A>C (p.Tyr130Ser)
n.967A>C
n.969A>C
c.737A>C (p.Tyr246Ser)
n.752A>C
11g.77156916A>GCA381932130MYO7Ac.647A>G (p.Tyr216Cys)
c.614A>G (p.Tyr205Cys)
c.389A>G (p.Tyr130Cys)
n.967A>G
n.969A>G
c.737A>G (p.Tyr246Cys)
n.752A>G
11g.77156916A>TCA381932131MYO7Ac.647A>T (p.Tyr216Phe)
c.614A>T (p.Tyr205Phe)
c.389A>T (p.Tyr130Phe)
n.967A>T
n.969A>T
c.737A>T (p.Tyr246Phe)
n.752A>T
 gnomAD v4
11g.77156921_77156926delCA658656130MYO7Ac.652_657del (p.Asp218_Ile219del)
c.619_624del (p.Asp207_Ile208del)
c.394_399del (p.Asp132_Ile133del)
n.972_977del
n.974_979del
c.742_747del (p.Asp248_Ile249del)
n.757_762del
 ClinVar dbSNP
11g.77156917C>ACA381932132MYO7Ac.648C>A (p.Tyr216Ter)
c.615C>A (p.Tyr205Ter)
c.390C>A (p.Tyr130Ter)
n.968C>A
n.970C>A
c.738C>A (p.Tyr246Ter)
n.753C>A
11g.77156917C>GCA381932133MYO7Ac.648C>G (p.Tyr216Ter)
c.615C>G (p.Tyr205Ter)
c.390C>G (p.Tyr130Ter)
n.968C>G
n.970C>G
c.738C>G (p.Tyr246Ter)
n.753C>G
11g.77156917C>TCA475886905MYO7Ac.648C>T (p.Tyr216=)
c.615C>T (p.Tyr205=)
c.390C>T (p.Tyr130=)
n.968C>T
n.970C>T
c.738C>T (p.Tyr246=)
n.753C>T
11g.77156918A=CA1984095921MYO7Ac.649A= (p.Ile217=)
c.616A= (p.Ile206=)
c.391A= (p.Ile131=)
n.969A=
n.971A=
c.739A= (p.Ile247=)
n.754A=
11g.77156918A>CCA381932134MYO7Ac.649A>C (p.Ile217Leu)
c.616A>C (p.Ile206Leu)
c.391A>C (p.Ile131Leu)
n.969A>C
n.971A>C
c.739A>C (p.Ile247Leu)
n.754A>C
 gnomAD v4
11g.77156918A>GCA381932136MYO7Ac.649A>G (p.Ile217Val)
c.616A>G (p.Ile206Val)
c.391A>G (p.Ile131Val)
n.969A>G
n.971A>G
c.739A>G (p.Ile247Val)
n.754A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77156918A>TCA381932135MYO7Ac.649A>T (p.Ile217Phe)
c.616A>T (p.Ile206Phe)
c.391A>T (p.Ile131Phe)
n.969A>T
n.971A>T
c.739A>T (p.Ile247Phe)
n.754A>T
11g.77156919T>ACA381932137MYO7Ac.650T>A (p.Ile217Asn)
c.617T>A (p.Ile206Asn)
c.392T>A (p.Ile131Asn)
n.970T>A
n.972T>A
c.740T>A (p.Ile247Asn)
n.755T>A
11g.77156919T>CCA381932138MYO7Ac.650T>C (p.Ile217Thr)
c.617T>C (p.Ile206Thr)
c.392T>C (p.Ile131Thr)
n.970T>C
n.972T>C
c.740T>C (p.Ile247Thr)
n.755T>C
11g.77156919T>GCA381932139MYO7Ac.650T>G (p.Ile217Ser)
c.617T>G (p.Ile206Ser)
c.392T>G (p.Ile131Ser)
n.970T>G
n.972T>G
c.740T>G (p.Ile247Ser)
n.755T>G
11g.77156920C>ACA475886910MYO7Ac.651C>A (p.Ile217=)
c.618C>A (p.Ile206=)
c.393C>A (p.Ile131=)
n.971C>A
n.973C>A
c.741C>A (p.Ile247=)
n.756C>A
11g.77156920C=CA1984095925MYO7Ac.651C= (p.Ile217=)
c.618C= (p.Ile206=)
c.393C= (p.Ile131=)
n.971C=
n.973C=
c.741C= (p.Ile247=)
n.756C=
11g.77156920C>GCA381932140MYO7Ac.651C>G (p.Ile217Met)
c.618C>G (p.Ile206Met)
c.393C>G (p.Ile131Met)
n.971C>G
n.973C>G
c.741C>G (p.Ile247Met)
n.756C>G
11g.77156920C>TCA475886914MYO7Ac.651C>T (p.Ile217=)
c.618C>T (p.Ile206=)
c.393C>T (p.Ile131=)
n.971C>T
n.973C>T
c.741C>T (p.Ile247=)
n.756C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156921G>ACA259686MYO7Ac.652G>A (p.Asp218Asn)
c.619G>A (p.Asp207Asn)
c.394G>A (p.Asp132Asn)
n.972G>A
n.974G>A
c.742G>A (p.Asp248Asn)
n.757G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156921G>CCA381932143MYO7Ac.652G>C (p.Asp218His)
c.619G>C (p.Asp207His)
c.394G>C (p.Asp132His)
n.972G>C
n.974G>C
c.742G>C (p.Asp248His)
n.757G>C
 ClinVar dbSNP
11g.77156921G=CA1984095930MYO7Ac.652G= (p.Asp218=)
c.619G= (p.Asp207=)
c.394G= (p.Asp132=)
n.972G=
n.974G=
c.742G= (p.Asp248=)
n.757G=
11g.77156921G>TCA381932141MYO7Ac.652G>T (p.Asp218Tyr)
c.619G>T (p.Asp207Tyr)
c.394G>T (p.Asp132Tyr)
n.972G>T
n.974G>T
c.742G>T (p.Asp248Tyr)
n.757G>T
11g.77156921_77156927delinsGACATCCCA1984095933MYO7Ac.652_658delinsGACATCC (p.Asp218=)
c.619_625delinsGACATCC (p.Asp207=)
c.394_400delinsGACATCC (p.Asp132=)
n.972_978delinsGACATCC
n.974_980delinsGACATCC
c.742_748delinsGACATCC (p.Asp248=)
n.757_763delinsGACATCC
11g.77156922A=CA1984095947MYO7Ac.653A= (p.Asp218=)
c.620A= (p.Asp207=)
c.395A= (p.Asp132=)
n.973A=
n.975A=
c.743A= (p.Asp248=)
n.758A=
11g.77156922A>CCA381932144MYO7Ac.653A>C (p.Asp218Ala)
c.620A>C (p.Asp207Ala)
c.395A>C (p.Asp132Ala)
n.973A>C
n.975A>C
c.743A>C (p.Asp248Ala)
n.758A>C
11g.77156922A>GCA381932145MYO7Ac.653A>G (p.Asp218Gly)
c.620A>G (p.Asp207Gly)
c.395A>G (p.Asp132Gly)
n.973A>G
n.975A>G
c.743A>G (p.Asp248Gly)
n.758A>G
11g.77156922A>TCA381932146MYO7Ac.653A>T (p.Asp218Val)
c.620A>T (p.Asp207Val)
c.395A>T (p.Asp132Val)
n.973A>T
n.975A>T
c.743A>T (p.Asp248Val)
n.758A>T
11g.77156924_77156929delCA1139662103MYO7Ac.655_660del (p.Ile219_His220del)
c.622_627del (p.Ile208_His209del)
c.397_402del (p.Ile133_His134del)
n.975_980del
n.977_982del
c.745_750del (p.Ile249_His250del)
n.760_765del
 ClinVar dbSNP gnomAD v4
11g.77156923C>ACA381932147MYO7Ac.654C>A (p.Asp218Glu)
c.621C>A (p.Asp207Glu)
c.396C>A (p.Asp132Glu)
n.974C>A
n.976C>A
c.744C>A (p.Asp248Glu)
n.759C>A
11g.77156923C>GCA381932148MYO7Ac.654C>G (p.Asp218Glu)
c.621C>G (p.Asp207Glu)
c.396C>G (p.Asp132Glu)
n.974C>G
n.976C>G
c.744C>G (p.Asp248Glu)
n.759C>G
11g.77156923C>TCA475886923MYO7Ac.654C>T (p.Asp218=)
c.621C>T (p.Asp207=)
c.396C>T (p.Asp132=)
n.974C>T
n.976C>T
c.744C>T (p.Asp248=)
n.759C>T
11g.77156925_77156933dupCA1984095952MYO7Ac.656_664dup (p.Phe221_Asn222insIleHisPhe)
c.623_631dup (p.Phe210_Asn211insIleHisPhe)
c.398_406dup (p.Phe135_Asn136insIleHisPhe)
n.976_984dup
n.978_986dup
c.746_754dup (p.Phe251_Asn252insIleHisPhe)
n.761_769dup
 dbSNP
11g.77156924A=CA1984095956MYO7Ac.655A= (p.Ile219=)
c.622A= (p.Ile208=)
c.397A= (p.Ile133=)
n.975A=
n.977A=
c.745A= (p.Ile249=)
n.760A=
11g.77156924A>CCA381932149MYO7Ac.655A>C (p.Ile219Leu)
c.622A>C (p.Ile208Leu)
c.397A>C (p.Ile133Leu)
n.975A>C
n.977A>C
c.745A>C (p.Ile249Leu)
n.760A>C
11g.77156924A>GCA381932150MYO7Ac.655A>G (p.Ile219Val)
c.622A>G (p.Ile208Val)
c.397A>G (p.Ile133Val)
n.975A>G
n.977A>G
c.745A>G (p.Ile249Val)
n.760A>G
 ClinVar dbSNP
11g.77156924A>TCA381932151MYO7Ac.655A>T (p.Ile219Phe)
c.622A>T (p.Ile208Phe)
c.397A>T (p.Ile133Phe)
n.975A>T
n.977A>T
c.745A>T (p.Ile249Phe)
n.760A>T

Number of alleles fetched