Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77156847C=CA1984095683MYO7Ac.593-15C= (n.593-15C=)
c.560-15C= (n.560-15C=)
c.335-15C= (n.335-15C=)
n.913-15C=
n.915-15C=
c.683-15C= (n.683-15C=)
n.698-15C=
11g.77156847C>GCA1984095684MYO7Ac.593-15C>G (n.593-15C>G)
c.560-15C>G (n.560-15C>G)
c.335-15C>G (n.335-15C>G)
n.913-15C>G
n.915-15C>G
c.683-15C>G (n.683-15C>G)
n.698-15C>G
 dbSNP
11g.77156847C>TCA6197195MYO7Ac.593-15C>T (n.593-15C>T)
c.560-15C>T (n.560-15C>T)
c.335-15C>T (n.335-15C>T)
n.913-15C>T
n.915-15C>T
c.683-15C>T (n.683-15C>T)
n.698-15C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156848delCA2792785699MYO7Ac.593-14del (n.593-14del)
c.560-14del (n.560-14del)
c.335-14del (n.335-14del)
n.913-14del
n.915-14del
c.683-14del (n.683-14del)
n.698-14del
11g.77156848T>ACA6197196MYO7Ac.593-14T>A (n.593-14T>A)
c.560-14T>A (n.560-14T>A)
c.335-14T>A (n.335-14T>A)
n.913-14T>A
n.915-14T>A
c.683-14T>A (n.683-14T>A)
n.698-14T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156848T>CCA2615246325MYO7Ac.593-14T>C (n.593-14T>C)
c.560-14T>C (n.560-14T>C)
c.335-14T>C (n.335-14T>C)
n.913-14T>C
n.915-14T>C
c.683-14T>C (n.683-14T>C)
n.698-14T>C
 ClinVar gnomAD v4
11g.77156848T=CA1984095687MYO7Ac.593-14T= (n.593-14T=)
c.560-14T= (n.560-14T=)
c.335-14T= (n.335-14T=)
n.913-14T=
n.915-14T=
c.683-14T= (n.683-14T=)
n.698-14T=
11g.77156848dupCA2740093143MYO7Ac.593-14dup (n.593-14dup)
c.560-14dup (n.560-14dup)
c.335-14dup (n.335-14dup)
n.913-14dup
n.915-14dup
c.683-14dup (n.683-14dup)
n.698-14dup
 ClinVar
11g.77156849A=CA1984095691MYO7Ac.593-13A= (n.593-13A=)
c.560-13A= (n.560-13A=)
c.335-13A= (n.335-13A=)
n.913-13A=
n.915-13A=
c.683-13A= (n.683-13A=)
n.698-13A=
11g.77156849A>GCA1984095692MYO7Ac.593-13A>G (n.593-13A>G)
c.560-13A>G (n.560-13A>G)
c.335-13A>G (n.335-13A>G)
n.913-13A>G
n.915-13A>G
c.683-13A>G (n.683-13A>G)
n.698-13A>G
 dbSNP gnomAD v3 gnomAD v4
11g.77156853_77156856delCA2615246331MYO7Ac.593-9_593-6del (n.593-9_593-6del)
c.560-9_560-6del (n.560-9_560-6del)
c.335-9_335-6del (n.335-9_335-6del)
n.913-9_913-6del
n.915-9_915-6del
c.683-9_683-6del (n.683-9_683-6del)
n.698-9_698-6del
 ClinVar gnomAD v4
11g.77156850C>TCA2615246335MYO7Ac.593-12C>T (n.593-12C>T)
c.560-12C>T (n.560-12C>T)
c.335-12C>T (n.335-12C>T)
n.913-12C>T
n.915-12C>T
c.683-12C>T (n.683-12C>T)
n.698-12C>T
 gnomAD v4
11g.77156852C=CA1984095696MYO7Ac.593-10C= (n.593-10C=)
c.560-10C= (n.560-10C=)
c.335-10C= (n.335-10C=)
n.913-10C=
n.915-10C=
c.683-10C= (n.683-10C=)
n.698-10C=
11g.77156852C>GCA600710545MYO7Ac.593-10C>G (n.593-10C>G)
c.560-10C>G (n.560-10C>G)
c.335-10C>G (n.335-10C>G)
n.913-10C>G
n.915-10C>G
c.683-10C>G (n.683-10C>G)
n.698-10C>G
 dbSNP gnomAD v2
11g.77156853A>GCA2615246336MYO7Ac.593-9A>G (n.593-9A>G)
c.560-9A>G (n.560-9A>G)
c.335-9A>G (n.335-9A>G)
n.913-9A>G
n.915-9A>G
c.683-9A>G (n.683-9A>G)
n.698-9A>G
 gnomAD v4
11g.77156854C=CA1984095705MYO7Ac.593-8C= (n.593-8C=)
c.560-8C= (n.560-8C=)
c.335-8C= (n.335-8C=)
n.913-8C=
n.915-8C=
c.683-8C= (n.683-8C=)
n.698-8C=
11g.77156854C>TCA6197197MYO7Ac.593-8C>T (n.593-8C>T)
c.560-8C>T (n.560-8C>T)
c.335-8C>T (n.335-8C>T)
n.913-8C>T
n.915-8C>T
c.683-8C>T (n.683-8C>T)
n.698-8C>T
 ClinVar dbSNP ExAC gnomAD v4
11g.77156855delCA2615246349MYO7Ac.593-7del (n.593-7del)
c.560-7del (n.560-7del)
c.335-7del (n.335-7del)
n.913-7del
n.915-7del
c.683-7del (n.683-7del)
n.698-7del
 gnomAD v4
11g.77156855T>CCA2580084917MYO7Ac.593-7T>C (n.593-7T>C)
c.560-7T>C (n.560-7T>C)
c.335-7T>C (n.335-7T>C)
n.913-7T>C
n.915-7T>C
c.683-7T>C (n.683-7T>C)
n.698-7T>C
 ClinVar
11g.77156856C>TCA2697548808MYO7Ac.593-6C>T (n.593-6C>T)
c.560-6C>T (n.560-6C>T)
c.335-6C>T (n.335-6C>T)
n.913-6C>T
n.915-6C>T
c.683-6C>T (n.683-6C>T)
n.698-6C>T
 ClinVar
11g.77156857C>ACA2581042350MYO7Ac.593-5C>A (n.593-5C>A)
c.560-5C>A (n.560-5C>A)
c.335-5C>A (n.335-5C>A)
n.913-5C>A
n.915-5C>A
c.683-5C>A (n.683-5C>A)
n.698-5C>A
11g.77156857C=CA1984095716MYO7Ac.593-5C= (n.593-5C=)
c.560-5C= (n.560-5C=)
c.335-5C= (n.335-5C=)
n.913-5C=
n.915-5C=
c.683-5C= (n.683-5C=)
n.698-5C=
11g.77156857C>GCA2581042351MYO7Ac.593-5C>G (n.593-5C>G)
c.560-5C>G (n.560-5C>G)
c.335-5C>G (n.335-5C>G)
n.913-5C>G
n.915-5C>G
c.683-5C>G (n.683-5C>G)
n.698-5C>G
11g.77156857C>TCA132409MYO7Ac.593-5C>T (n.593-5C>T)
c.560-5C>T (n.560-5C>T)
c.335-5C>T (n.335-5C>T)
n.913-5C>T
n.915-5C>T
c.683-5C>T (n.683-5C>T)
n.698-5C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156858G>ACA10577198MYO7Ac.593-4G>A (n.593-4G>A)
c.560-4G>A (n.560-4G>A)
c.335-4G>A (n.335-4G>A)
n.913-4G>A
n.915-4G>A
c.683-4G>A (n.683-4G>A)
n.698-4G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156858G=CA1984095730MYO7Ac.593-4G= (n.593-4G=)
c.560-4G= (n.560-4G=)
c.335-4G= (n.335-4G=)
n.913-4G=
n.915-4G=
c.683-4G= (n.683-4G=)
n.698-4G=
11g.77156858G>TCA2574930711MYO7Ac.593-4G>T (n.593-4G>T)
c.560-4G>T (n.560-4G>T)
c.335-4G>T (n.335-4G>T)
n.913-4G>T
n.915-4G>T
c.683-4G>T (n.683-4G>T)
n.698-4G>T
 gnomAD v4
11g.77156860A=CA1984095741MYO7Ac.593-2A= (n.593-2A=)
c.560-2A= (n.560-2A=)
c.335-2A= (n.335-2A=)
n.913-2A=
n.915-2A=
c.683-2A= (n.683-2A=)
n.698-2A=
11g.77156860A>CCA6197198MYO7Ac.593-2A>C (n.593-2A>C)
c.560-2A>C (n.560-2A>C)
c.335-2A>C (n.335-2A>C)
n.913-2A>C
n.915-2A>C
c.683-2A>C (n.683-2A>C)
n.698-2A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156860A>GCA381932006MYO7Ac.593-2A>G (n.593-2A>G)
c.560-2A>G (n.560-2A>G)
c.335-2A>G (n.335-2A>G)
n.913-2A>G
n.915-2A>G
c.683-2A>G (n.683-2A>G)
n.698-2A>G
 ClinVar dbSNP
11g.77156860A>TCA381932007MYO7Ac.593-2A>T (n.593-2A>T)
c.560-2A>T (n.560-2A>T)
c.335-2A>T (n.335-2A>T)
n.913-2A>T
n.915-2A>T
c.683-2A>T (n.683-2A>T)
n.698-2A>T
11g.77156861delCA2697548809MYO7Ac.593-1del (n.593-1del)
c.560-1del (n.560-1del)
c.335-1del (n.335-1del)
n.913-1del
n.915-1del
c.683-1del (n.683-1del)
n.698-1del
 ClinVar
11g.77156861G>ACA381932008MYO7Ac.593-1G>A (n.593-1G>A)
c.560-1G>A (n.560-1G>A)
c.335-1G>A (n.335-1G>A)
n.913-1G>A
n.915-1G>A
c.683-1G>A (n.683-1G>A)
n.698-1G>A
 ClinVar
11g.77156861G>CCA381932010MYO7Ac.593-1G>C (n.593-1G>C)
c.560-1G>C (n.560-1G>C)
c.335-1G>C (n.335-1G>C)
n.913-1G>C
n.915-1G>C
c.683-1G>C (n.683-1G>C)
n.698-1G>C
11g.77156861G>TCA381932009MYO7Ac.593-1G>T (n.593-1G>T)
c.560-1G>T (n.560-1G>T)
c.335-1G>T (n.335-1G>T)
n.913-1G>T
n.915-1G>T
c.683-1G>T (n.683-1G>T)
n.698-1G>T
11g.77156862C>ACA381932011MYO7Ac.593C>A (p.Ala198Glu)
c.560C>A (p.Ala187Glu)
c.335C>A (p.Ala112Glu)
n.913C>A
n.915C>A
c.683C>A (p.Ala228Glu)
n.698C>A
11g.77156862C=CA1984095747MYO7Ac.593C= (p.Ala198=)
c.560C= (p.Ala187=)
c.335C= (p.Ala112=)
n.913C=
n.915C=
c.683C= (p.Ala228=)
n.698C=
11g.77156862C>GCA381932012MYO7Ac.593C>G (p.Ala198Gly)
c.560C>G (p.Ala187Gly)
c.335C>G (p.Ala112Gly)
n.913C>G
n.915C>G
c.683C>G (p.Ala228Gly)
n.698C>G
11g.77156862C>TCA6197199MYO7Ac.593C>T (p.Ala198Val)
c.560C>T (p.Ala187Val)
c.335C>T (p.Ala112Val)
n.913C>T
n.915C>T
c.683C>T (p.Ala228Val)
n.698C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156863A>CCA475886776MYO7Ac.594A>C (p.Ala198=)
c.561A>C (p.Ala187=)
c.336A>C (p.Ala112=)
n.914A>C
n.916A>C
c.684A>C (p.Ala228=)
n.699A>C
11g.77156863A>GCA475886774MYO7Ac.594A>G (p.Ala198=)
c.561A>G (p.Ala187=)
c.336A>G (p.Ala112=)
n.914A>G
n.916A>G
c.684A>G (p.Ala228=)
n.699A>G
 gnomAD v4
11g.77156863A>TCA475886773MYO7Ac.594A>T (p.Ala198=)
c.561A>T (p.Ala187=)
c.336A>T (p.Ala112=)
n.914A>T
n.916A>T
c.684A>T (p.Ala228=)
n.699A>T
11g.77156864T>ACA381932013MYO7Ac.595T>A (p.Phe199Ile)
c.562T>A (p.Phe188Ile)
c.337T>A (p.Phe113Ile)
n.915T>A
n.917T>A
c.685T>A (p.Phe229Ile)
n.700T>A
11g.77156864T>CCA381932014MYO7Ac.595T>C (p.Phe199Leu)
c.562T>C (p.Phe188Leu)
c.337T>C (p.Phe113Leu)
n.915T>C
n.917T>C
c.685T>C (p.Phe229Leu)
n.700T>C
 gnomAD v4
11g.77156864T>GCA381932015MYO7Ac.595T>G (p.Phe199Val)
c.562T>G (p.Phe188Val)
c.337T>G (p.Phe113Val)
n.915T>G
n.917T>G
c.685T>G (p.Phe229Val)
n.700T>G
11g.77156865T>ACA381932018MYO7Ac.596T>A (p.Phe199Tyr)
c.563T>A (p.Phe188Tyr)
c.338T>A (p.Phe113Tyr)
n.916T>A
n.918T>A
c.686T>A (p.Phe229Tyr)
n.701T>A
11g.77156865T>CCA381932016MYO7Ac.596T>C (p.Phe199Ser)
c.563T>C (p.Phe188Ser)
c.338T>C (p.Phe113Ser)
n.916T>C
n.918T>C
c.686T>C (p.Phe229Ser)
n.701T>C
11g.77156865T>GCA381932017MYO7Ac.596T>G (p.Phe199Cys)
c.563T>G (p.Phe188Cys)
c.338T>G (p.Phe113Cys)
n.916T>G
n.918T>G
c.686T>G (p.Phe229Cys)
n.701T>G
 gnomAD v4
11g.77156866T>ACA381932019MYO7Ac.597T>A (p.Phe199Leu)
c.564T>A (p.Phe188Leu)
c.339T>A (p.Phe113Leu)
n.917T>A
n.919T>A
c.687T>A (p.Phe229Leu)
n.702T>A
11g.77156866T>CCA475886779MYO7Ac.597T>C (p.Phe199=)
c.564T>C (p.Phe188=)
c.339T>C (p.Phe113=)
n.917T>C
n.919T>C
c.687T>C (p.Phe229=)
n.702T>C
11g.77156866T>GCA381932020MYO7Ac.597T>G (p.Phe199Leu)
c.564T>G (p.Phe188Leu)
c.339T>G (p.Phe113Leu)
n.917T>G
n.919T>G
c.687T>G (p.Phe229Leu)
n.702T>G
11g.77156867G>ACA381932021MYO7Ac.598G>A (p.Gly200Arg)
c.565G>A (p.Gly189Arg)
c.340G>A (p.Gly114Arg)
n.918G>A
n.920G>A
c.688G>A (p.Gly230Arg)
n.703G>A
11g.77156867G>CCA381932022MYO7Ac.598G>C (p.Gly200Arg)
c.565G>C (p.Gly189Arg)
c.340G>C (p.Gly114Arg)
n.918G>C
n.920G>C
c.688G>C (p.Gly230Arg)
n.703G>C
11g.77156867G>TCA381932023MYO7Ac.598G>T (p.Gly200Trp)
c.565G>T (p.Gly189Trp)
c.340G>T (p.Gly114Trp)
n.918G>T
n.920G>T
c.688G>T (p.Gly230Trp)
n.703G>T
 ClinVar dbSNP
11g.77156868G>ACA381932026MYO7Ac.599G>A (p.Gly200Glu)
c.566G>A (p.Gly189Glu)
c.341G>A (p.Gly114Glu)
n.919G>A
n.921G>A
c.689G>A (p.Gly230Glu)
n.704G>A
11g.77156868G>CCA381932024MYO7Ac.599G>C (p.Gly200Ala)
c.566G>C (p.Gly189Ala)
c.341G>C (p.Gly114Ala)
n.919G>C
n.921G>C
c.689G>C (p.Gly230Ala)
n.704G>C
11g.77156868G>TCA381932025MYO7Ac.599G>T (p.Gly200Val)
c.566G>T (p.Gly189Val)
c.341G>T (p.Gly114Val)
n.919G>T
n.921G>T
c.689G>T (p.Gly230Val)
n.704G>T
11g.77156869G>ACA475886781MYO7Ac.600G>A (p.Gly200=)
c.567G>A (p.Gly189=)
c.342G>A (p.Gly114=)
n.920G>A
n.922G>A
c.690G>A (p.Gly230=)
n.705G>A
 dbSNP gnomAD v4
11g.77156869G>CCA475886782MYO7Ac.600G>C (p.Gly200=)
c.567G>C (p.Gly189=)
c.342G>C (p.Gly114=)
n.920G>C
n.922G>C
c.690G>C (p.Gly230=)
n.705G>C
11g.77156869G=CA1984095752MYO7Ac.600G= (p.Gly200=)
c.567G= (p.Gly189=)
c.342G= (p.Gly114=)
n.920G=
n.922G=
c.690G= (p.Gly230=)
n.705G=
11g.77156869G>TCA475886783MYO7Ac.600G>T (p.Gly200=)
c.567G>T (p.Gly189=)
c.342G>T (p.Gly114=)
n.920G>T
n.922G>T
c.690G>T (p.Gly230=)
n.705G>T
11g.77156870A>CCA381932027MYO7Ac.601A>C (p.Asn201His)
c.568A>C (p.Asn190His)
c.343A>C (p.Asn115His)
n.921A>C
n.923A>C
c.691A>C (p.Asn231His)
n.706A>C
11g.77156870A>GCA381932028MYO7Ac.601A>G (p.Asn201Asp)
c.568A>G (p.Asn190Asp)
c.343A>G (p.Asn115Asp)
n.921A>G
n.923A>G
c.691A>G (p.Asn231Asp)
n.706A>G
11g.77156870A>TCA381932029MYO7Ac.601A>T (p.Asn201Tyr)
c.568A>T (p.Asn190Tyr)
c.343A>T (p.Asn115Tyr)
n.921A>T
n.923A>T
c.691A>T (p.Asn231Tyr)
n.706A>T
11g.77156871delCA2580084918MYO7Ac.602del (p.Asn201MetfsTer?)
c.569del (p.Asn190MetfsTer?)
c.344del (p.Asn115MetfsTer?)
n.922del
n.924del
c.692del (p.Asn231MetfsTer?)
n.707del
 ClinVar
11g.77156871A>CCA381932030MYO7Ac.602A>C (p.Asn201Thr)
c.569A>C (p.Asn190Thr)
c.344A>C (p.Asn115Thr)
n.922A>C
n.924A>C
c.692A>C (p.Asn231Thr)
n.707A>C
11g.77156871A>GCA381932031MYO7Ac.602A>G (p.Asn201Ser)
c.569A>G (p.Asn190Ser)
c.344A>G (p.Asn115Ser)
n.922A>G
n.924A>G
c.692A>G (p.Asn231Ser)
n.707A>G
11g.77156871A>TCA381932032MYO7Ac.602A>T (p.Asn201Ile)
c.569A>T (p.Asn190Ile)
c.344A>T (p.Asn115Ile)
n.922A>T
n.924A>T
c.692A>T (p.Asn231Ile)
n.707A>T
11g.77156872T>ACA381932033MYO7Ac.603T>A (p.Asn201Lys)
c.570T>A (p.Asn190Lys)
c.345T>A (p.Asn115Lys)
n.923T>A
n.925T>A
c.693T>A (p.Asn231Lys)
n.708T>A
11g.77156872T>CCA475886786MYO7Ac.603T>C (p.Asn201=)
c.570T>C (p.Asn190=)
c.345T>C (p.Asn115=)
n.923T>C
n.925T>C
c.693T>C (p.Asn231=)
n.708T>C
11g.77156872T>GCA381932034MYO7Ac.603T>G (p.Asn201Lys)
c.570T>G (p.Asn190Lys)
c.345T>G (p.Asn115Lys)
n.923T>G
n.925T>G
c.693T>G (p.Asn231Lys)
n.708T>G
11g.77156872_77156873delinsTGCA1984095761MYO7Ac.603_604delinsTG (p.Asn201=)
c.570_571delinsTG (p.Asn190=)
c.345_346delinsTG (p.Asn115=)
n.923_924delinsTG
n.925_926delinsTG
c.693_694delinsTG (p.Asn231=)
n.708_709delinsTG
11g.77156873delCA6197200MYO7Ac.604del (p.Ala202ProfsTer?)
c.571del (p.Ala191ProfsTer?)
c.346del (p.Ala116ProfsTer?)
n.924del
n.926del
c.694del (p.Ala232ProfsTer?)
n.709del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156873G>ACA381932035MYO7Ac.604G>A (p.Ala202Thr)
c.571G>A (p.Ala191Thr)
c.346G>A (p.Ala116Thr)
n.924G>A
n.926G>A
c.694G>A (p.Ala232Thr)
n.709G>A
11g.77156873G>CCA381932036MYO7Ac.604G>C (p.Ala202Pro)
c.571G>C (p.Ala191Pro)
c.346G>C (p.Ala116Pro)
n.924G>C
n.926G>C
c.694G>C (p.Ala232Pro)
n.709G>C
11g.77156873G>TCA381932037MYO7Ac.604G>T (p.Ala202Ser)
c.571G>T (p.Ala191Ser)
c.346G>T (p.Ala116Ser)
n.924G>T
n.926G>T
c.694G>T (p.Ala232Ser)
n.709G>T
11g.77156874C>ACA381932038MYO7Ac.605C>A (p.Ala202Asp)
c.572C>A (p.Ala191Asp)
c.347C>A (p.Ala116Asp)
n.925C>A
n.927C>A
c.695C>A (p.Ala232Asp)
n.710C>A
11g.77156874C>GCA381932040MYO7Ac.605C>G (p.Ala202Gly)
c.572C>G (p.Ala191Gly)
c.347C>G (p.Ala116Gly)
n.925C>G
n.927C>G
c.695C>G (p.Ala232Gly)
n.710C>G
11g.77156874C>TCA381932039MYO7Ac.605C>T (p.Ala202Val)
c.572C>T (p.Ala191Val)
c.347C>T (p.Ala116Val)
n.925C>T
n.927C>T
c.695C>T (p.Ala232Val)
n.710C>T
 COSMIC
11g.77156875C>ACA475886788MYO7Ac.606C>A (p.Ala202=)
c.573C>A (p.Ala191=)
c.348C>A (p.Ala116=)
n.926C>A
n.928C>A
c.696C>A (p.Ala232=)
n.711C>A
11g.77156875C>GCA475886789MYO7Ac.606C>G (p.Ala202=)
c.573C>G (p.Ala191=)
c.348C>G (p.Ala116=)
n.926C>G
n.928C>G
c.696C>G (p.Ala232=)
n.711C>G
11g.77156875C>TCA475886790MYO7Ac.606C>T (p.Ala202=)
c.573C>T (p.Ala191=)
c.348C>T (p.Ala116=)
n.926C>T
n.928C>T
c.696C>T (p.Ala232=)
n.711C>T
 gnomAD v4
11g.77156876A>CCA381932041MYO7Ac.607A>C (p.Lys203Gln)
c.574A>C (p.Lys192Gln)
c.349A>C (p.Lys117Gln)
n.927A>C
n.929A>C
c.697A>C (p.Lys233Gln)
n.712A>C
11g.77156876A>GCA381932042MYO7Ac.607A>G (p.Lys203Glu)
c.574A>G (p.Lys192Glu)
c.349A>G (p.Lys117Glu)
n.927A>G
n.929A>G
c.697A>G (p.Lys233Glu)
n.712A>G
11g.77156876A>TCA381932043MYO7Ac.607A>T (p.Lys203Ter)
c.574A>T (p.Lys192Ter)
c.349A>T (p.Lys117Ter)
n.927A>T
n.929A>T
c.697A>T (p.Lys233Ter)
n.712A>T
11g.77156877A>CCA381932044MYO7Ac.608A>C (p.Lys203Thr)
c.575A>C (p.Lys192Thr)
c.350A>C (p.Lys117Thr)
n.928A>C
n.930A>C
c.698A>C (p.Lys233Thr)
n.713A>C
11g.77156877A>GCA381932045MYO7Ac.608A>G (p.Lys203Arg)
c.575A>G (p.Lys192Arg)
c.350A>G (p.Lys117Arg)
n.928A>G
n.930A>G
c.698A>G (p.Lys233Arg)
n.713A>G
11g.77156877A>TCA381932046MYO7Ac.608A>T (p.Lys203Met)
c.575A>T (p.Lys192Met)
c.350A>T (p.Lys117Met)
n.928A>T
n.930A>T
c.698A>T (p.Lys233Met)
n.713A>T
11g.77156878G>ACA475886796MYO7Ac.609G>A (p.Lys203=)
c.576G>A (p.Lys192=)
c.351G>A (p.Lys117=)
n.929G>A
n.931G>A
c.699G>A (p.Lys233=)
n.714G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77156878G>CCA381932047MYO7Ac.609G>C (p.Lys203Asn)
c.576G>C (p.Lys192Asn)
c.351G>C (p.Lys117Asn)
n.929G>C
n.931G>C
c.699G>C (p.Lys233Asn)
n.714G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77156878G=CA1984095771MYO7Ac.609G= (p.Lys203=)
c.576G= (p.Lys192=)
c.351G= (p.Lys117=)
n.929G=
n.931G=
c.699G= (p.Lys233=)
n.714G=
11g.77156878G>TCA381932048MYO7Ac.609G>T (p.Lys203Asn)
c.576G>T (p.Lys192Asn)
c.351G>T (p.Lys117Asn)
n.929G>T
n.931G>T
c.699G>T (p.Lys233Asn)
n.714G>T
11g.77156879A>CCA381932049MYO7Ac.610A>C (p.Thr204Pro)
c.577A>C (p.Thr193Pro)
c.352A>C (p.Thr118Pro)
n.930A>C
n.932A>C
c.700A>C (p.Thr234Pro)
n.715A>C
11g.77156879A>GCA381932050MYO7Ac.610A>G (p.Thr204Ala)
c.577A>G (p.Thr193Ala)
c.352A>G (p.Thr118Ala)
n.930A>G
n.932A>G
c.700A>G (p.Thr234Ala)
n.715A>G
11g.77156879A>TCA381932051MYO7Ac.610A>T (p.Thr204Ser)
c.577A>T (p.Thr193Ser)
c.352A>T (p.Thr118Ser)
n.930A>T
n.932A>T
c.700A>T (p.Thr234Ser)
n.715A>T
11g.77156880C>ACA381932054MYO7Ac.611C>A (p.Thr204Asn)
c.578C>A (p.Thr193Asn)
c.353C>A (p.Thr118Asn)
n.931C>A
n.933C>A
c.701C>A (p.Thr234Asn)
n.716C>A
11g.77156880C>GCA381932053MYO7Ac.611C>G (p.Thr204Ser)
c.578C>G (p.Thr193Ser)
c.353C>G (p.Thr118Ser)
n.931C>G
n.933C>G
c.701C>G (p.Thr234Ser)
n.716C>G
11g.77156880C>TCA381932052MYO7Ac.611C>T (p.Thr204Ile)
c.578C>T (p.Thr193Ile)
c.353C>T (p.Thr118Ile)
n.931C>T
n.933C>T
c.701C>T (p.Thr234Ile)
n.716C>T
11g.77156881C>ACA475886802MYO7Ac.612C>A (p.Thr204=)
c.579C>A (p.Thr193=)
c.354C>A (p.Thr118=)
n.932C>A
n.934C>A
c.702C>A (p.Thr234=)
n.717C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77156881C=CA1984095775MYO7Ac.612C= (p.Thr204=)
c.579C= (p.Thr193=)
c.354C= (p.Thr118=)
n.932C=
n.934C=
c.702C= (p.Thr234=)
n.717C=
11g.77156881C>GCA475886803MYO7Ac.612C>G (p.Thr204=)
c.579C>G (p.Thr193=)
c.354C>G (p.Thr118=)
n.932C>G
n.934C>G
c.702C>G (p.Thr234=)
n.717C>G
11g.77156881C>TCA475886804MYO7Ac.612C>T (p.Thr204=)
c.579C>T (p.Thr193=)
c.354C>T (p.Thr118=)
n.932C>T
n.934C>T
c.702C>T (p.Thr234=)
n.717C>T
 ClinVar gnomAD v4
11g.77156882delCA2574930712MYO7Ac.613del (p.Ile205SerfsTer?)
c.580del (p.Ile194SerfsTer?)
c.355del (p.Ile119SerfsTer?)
n.933del
n.935del
c.703del (p.Ile235SerfsTer?)
n.718del
11g.77156882A=CA1984095781MYO7Ac.613A= (p.Ile205=)
c.580A= (p.Ile194=)
c.355A= (p.Ile119=)
n.933A=
n.935A=
c.703A= (p.Ile235=)
n.718A=
11g.77156882A>CCA381932055MYO7Ac.613A>C (p.Ile205Leu)
c.580A>C (p.Ile194Leu)
c.355A>C (p.Ile119Leu)
n.933A>C
n.935A>C
c.703A>C (p.Ile235Leu)
n.718A>C
11g.77156882A>GCA6197201MYO7Ac.613A>G (p.Ile205Val)
c.580A>G (p.Ile194Val)
c.355A>G (p.Ile119Val)
n.933A>G
n.935A>G
c.703A>G (p.Ile235Val)
n.718A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156882A>TCA381932056MYO7Ac.613A>T (p.Ile205Phe)
c.580A>T (p.Ile194Phe)
c.355A>T (p.Ile119Phe)
n.933A>T
n.935A>T
c.703A>T (p.Ile235Phe)
n.718A>T
11g.77156883T>ACA381932057MYO7Ac.614T>A (p.Ile205Asn)
c.581T>A (p.Ile194Asn)
c.356T>A (p.Ile119Asn)
n.934T>A
n.936T>A
c.704T>A (p.Ile235Asn)
n.719T>A
11g.77156883T>CCA6197202MYO7Ac.614T>C (p.Ile205Thr)
c.581T>C (p.Ile194Thr)
c.356T>C (p.Ile119Thr)
n.934T>C
n.936T>C
c.704T>C (p.Ile235Thr)
n.719T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156883T>GCA381932058MYO7Ac.614T>G (p.Ile205Ser)
c.581T>G (p.Ile194Ser)
c.356T>G (p.Ile119Ser)
n.934T>G
n.936T>G
c.704T>G (p.Ile235Ser)
n.719T>G
11g.77156883T=CA1984095790MYO7Ac.614T= (p.Ile205=)
c.581T= (p.Ile194=)
c.356T= (p.Ile119=)
n.934T=
n.936T=
c.704T= (p.Ile235=)
n.719T=
11g.77156884C>ACA475886812MYO7Ac.615C>A (p.Ile205=)
c.582C>A (p.Ile194=)
c.357C>A (p.Ile119=)
n.935C>A
n.937C>A
c.705C>A (p.Ile235=)
n.720C>A
11g.77156884C>GCA381932059MYO7Ac.615C>G (p.Ile205Met)
c.582C>G (p.Ile194Met)
c.357C>G (p.Ile119Met)
n.935C>G
n.937C>G
c.705C>G (p.Ile235Met)
n.720C>G
 COSMIC
11g.77156884C>TCA475886813MYO7Ac.615C>T (p.Ile205=)
c.582C>T (p.Ile194=)
c.357C>T (p.Ile119=)
n.935C>T
n.937C>T
c.705C>T (p.Ile235=)
n.720C>T
11g.77156885delCA2697548810MYO7Ac.616del (p.Arg206AlafsTer?)
c.583del (p.Arg195AlafsTer?)
c.358del (p.Arg120AlafsTer?)
n.936del
n.938del
c.706del (p.Arg236AlafsTer?)
n.721del
 ClinVar
11g.77156885C>ACA381932060MYO7Ac.616C>A (p.Arg206Ser)
c.583C>A (p.Arg195Ser)
c.358C>A (p.Arg120Ser)
n.936C>A
n.938C>A
c.706C>A (p.Arg236Ser)
n.721C>A
11g.77156885C=CA1984095796MYO7Ac.616C= (p.Arg206=)
c.583C= (p.Arg195=)
c.358C= (p.Arg120=)
n.936C=
n.938C=
c.706C= (p.Arg236=)
n.721C=
11g.77156885C>GCA381932061MYO7Ac.616C>G (p.Arg206Gly)
c.583C>G (p.Arg195Gly)
c.358C>G (p.Arg120Gly)
n.936C>G
n.938C>G
c.706C>G (p.Arg236Gly)
n.721C>G
 gnomAD v4
11g.77156885C>TCA6197203MYO7Ac.616C>T (p.Arg206Cys)
c.583C>T (p.Arg195Cys)
c.358C>T (p.Arg120Cys)
n.936C>T
n.938C>T
c.706C>T (p.Arg236Cys)
n.721C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156886G>ACA6197204MYO7Ac.617G>A (p.Arg206His)
c.584G>A (p.Arg195His)
c.359G>A (p.Arg120His)
n.937G>A
n.939G>A
c.707G>A (p.Arg236His)
n.722G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156886G>CCA381932062MYO7Ac.617G>C (p.Arg206Pro)
c.584G>C (p.Arg195Pro)
c.359G>C (p.Arg120Pro)
n.937G>C
n.939G>C
c.707G>C (p.Arg236Pro)
n.722G>C
 gnomAD v4
11g.77156886G=CA1984095805MYO7Ac.617G= (p.Arg206=)
c.584G= (p.Arg195=)
c.359G= (p.Arg120=)
n.937G=
n.939G=
c.707G= (p.Arg236=)
n.722G=
11g.77156886G>TCA381932063MYO7Ac.617G>T (p.Arg206Leu)
c.584G>T (p.Arg195Leu)
c.359G>T (p.Arg120Leu)
n.937G>T
n.939G>T
c.707G>T (p.Arg236Leu)
n.722G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156887C>ACA475886817MYO7Ac.618C>A (p.Arg206=)
c.585C>A (p.Arg195=)
c.360C>A (p.Arg120=)
n.938C>A
n.940C>A
c.708C>A (p.Arg236=)
n.723C>A
11g.77156887C=CA1984095812MYO7Ac.618C= (p.Arg206=)
c.585C= (p.Arg195=)
c.360C= (p.Arg120=)
n.938C=
n.940C=
c.708C= (p.Arg236=)
n.723C=
11g.77156887C>GCA475886820MYO7Ac.618C>G (p.Arg206=)
c.585C>G (p.Arg195=)
c.360C>G (p.Arg120=)
n.938C>G
n.940C>G
c.708C>G (p.Arg236=)
n.723C>G
11g.77156887C>TCA224827208MYO7Ac.618C>T (p.Arg206=)
c.585C>T (p.Arg195=)
c.360C>T (p.Arg120=)
n.938C>T
n.940C>T
c.708C>T (p.Arg236=)
n.723C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77156888A>CCA381932065MYO7Ac.619A>C (p.Asn207His)
c.586A>C (p.Asn196His)
c.361A>C (p.Asn121His)
n.939A>C
n.941A>C
c.709A>C (p.Asn237His)
n.724A>C
 ClinVar
11g.77156888A>GCA381932064MYO7Ac.619A>G (p.Asn207Asp)
c.586A>G (p.Asn196Asp)
c.361A>G (p.Asn121Asp)
n.939A>G
n.941A>G
c.709A>G (p.Asn237Asp)
n.724A>G
 gnomAD v4
11g.77156888A>TCA381932066MYO7Ac.619A>T (p.Asn207Tyr)
c.586A>T (p.Asn196Tyr)
c.361A>T (p.Asn121Tyr)
n.939A>T
n.941A>T
c.709A>T (p.Asn237Tyr)
n.724A>T
11g.77156889A=CA1984095818MYO7Ac.620A= (p.Asn207=)
c.587A= (p.Asn196=)
c.362A= (p.Asn121=)
n.940A=
n.942A=
c.710A= (p.Asn237=)
n.725A=
11g.77156889A>CCA381932067MYO7Ac.620A>C (p.Asn207Thr)
c.587A>C (p.Asn196Thr)
c.362A>C (p.Asn121Thr)
n.940A>C
n.942A>C
c.710A>C (p.Asn237Thr)
n.725A>C
11g.77156889A>GCA10581508MYO7Ac.620A>G (p.Asn207Ser)
c.587A>G (p.Asn196Ser)
c.362A>G (p.Asn121Ser)
n.940A>G
n.942A>G
c.710A>G (p.Asn237Ser)
n.725A>G
 ClinVar dbSNP gnomAD v4
11g.77156889A>TCA381932068MYO7Ac.620A>T (p.Asn207Ile)
c.587A>T (p.Asn196Ile)
c.362A>T (p.Asn121Ile)
n.940A>T
n.942A>T
c.710A>T (p.Asn237Ile)
n.725A>T
11g.77156890T>ACA381932069MYO7Ac.621T>A (p.Asn207Lys)
c.588T>A (p.Asn196Lys)
c.363T>A (p.Asn121Lys)
n.941T>A
n.943T>A
c.711T>A (p.Asn237Lys)
n.726T>A
11g.77156890T>CCA6197205MYO7Ac.621T>C (p.Asn207=)
c.588T>C (p.Asn196=)
c.363T>C (p.Asn121=)
n.941T>C
n.943T>C
c.711T>C (p.Asn237=)
n.726T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156890T>GCA381932070MYO7Ac.621T>G (p.Asn207Lys)
c.588T>G (p.Asn196Lys)
c.363T>G (p.Asn121Lys)
n.941T>G
n.943T>G
c.711T>G (p.Asn237Lys)
n.726T>G
11g.77156890T=CA1984095825MYO7Ac.621T= (p.Asn207=)
c.588T= (p.Asn196=)
c.363T= (p.Asn121=)
n.941T=
n.943T=
c.711T= (p.Asn237=)
n.726T=
11g.77156891G>ACA381932071MYO7Ac.622G>A (p.Asp208Asn)
c.589G>A (p.Asp197Asn)
c.364G>A (p.Asp122Asn)
n.942G>A
n.944G>A
c.712G>A (p.Asp238Asn)
n.727G>A
11g.77156891G>CCA381932072MYO7Ac.622G>C (p.Asp208His)
c.589G>C (p.Asp197His)
c.364G>C (p.Asp122His)
n.942G>C
n.944G>C
c.712G>C (p.Asp238His)
n.727G>C
 COSMIC
11g.77156891G>TCA381932073MYO7Ac.622G>T (p.Asp208Tyr)
c.589G>T (p.Asp197Tyr)
c.364G>T (p.Asp122Tyr)
n.942G>T
n.944G>T
c.712G>T (p.Asp238Tyr)
n.727G>T
11g.77156892A>CCA381932074MYO7Ac.623A>C (p.Asp208Ala)
c.590A>C (p.Asp197Ala)
c.365A>C (p.Asp122Ala)
n.943A>C
n.945A>C
c.713A>C (p.Asp238Ala)
n.728A>C
11g.77156892A>GCA381932075MYO7Ac.623A>G (p.Asp208Gly)
c.590A>G (p.Asp197Gly)
c.365A>G (p.Asp122Gly)
n.943A>G
n.945A>G
c.713A>G (p.Asp238Gly)
n.728A>G
11g.77156892A>TCA381932076MYO7Ac.623A>T (p.Asp208Val)
c.590A>T (p.Asp197Val)
c.365A>T (p.Asp122Val)
n.943A>T
n.945A>T
c.713A>T (p.Asp238Val)
n.728A>T
11g.77156893C>ACA381932078MYO7Ac.624C>A (p.Asp208Glu)
c.591C>A (p.Asp197Glu)
c.366C>A (p.Asp122Glu)
n.944C>A
n.946C>A
c.714C>A (p.Asp238Glu)
n.729C>A
11g.77156893C>GCA381932077MYO7Ac.624C>G (p.Asp208Glu)
c.591C>G (p.Asp197Glu)
c.366C>G (p.Asp122Glu)
n.944C>G
n.946C>G
c.714C>G (p.Asp238Glu)
n.729C>G
11g.77156893C>TCA475886840MYO7Ac.624C>T (p.Asp208=)
c.591C>T (p.Asp197=)
c.366C>T (p.Asp122=)
n.944C>T
n.946C>T
c.714C>T (p.Asp238=)
n.729C>T
11g.77156894A>CCA381932079MYO7Ac.625A>C (p.Asn209His)
c.592A>C (p.Asn198His)
c.367A>C (p.Asn123His)
n.945A>C
n.947A>C
c.715A>C (p.Asn239His)
n.730A>C
11g.77156894A>GCA381932080MYO7Ac.625A>G (p.Asn209Asp)
c.592A>G (p.Asn198Asp)
c.367A>G (p.Asn123Asp)
n.945A>G
n.947A>G
c.715A>G (p.Asn239Asp)
n.730A>G
11g.77156894A>TCA381932081MYO7Ac.625A>T (p.Asn209Tyr)
c.592A>T (p.Asn198Tyr)
c.367A>T (p.Asn123Tyr)
n.945A>T
n.947A>T
c.715A>T (p.Asn239Tyr)
n.730A>T
11g.77156895A>CCA381932082MYO7Ac.626A>C (p.Asn209Thr)
c.593A>C (p.Asn198Thr)
c.368A>C (p.Asn123Thr)
n.946A>C
n.948A>C
c.716A>C (p.Asn239Thr)
n.731A>C
11g.77156895A>GCA381932083MYO7Ac.626A>G (p.Asn209Ser)
c.593A>G (p.Asn198Ser)
c.368A>G (p.Asn123Ser)
n.946A>G
n.948A>G
c.716A>G (p.Asn239Ser)
n.731A>G
 gnomAD v4
11g.77156895A>TCA381932084MYO7Ac.626A>T (p.Asn209Ile)
c.593A>T (p.Asn198Ile)
c.368A>T (p.Asn123Ile)
n.946A>T
n.948A>T
c.716A>T (p.Asn239Ile)
n.731A>T
11g.77156896C>ACA381932085MYO7Ac.627C>A (p.Asn209Lys)
c.594C>A (p.Asn198Lys)
c.369C>A (p.Asn123Lys)
n.947C>A
n.949C>A
c.717C>A (p.Asn239Lys)
n.732C>A
11g.77156896C=CA1984095833MYO7Ac.627C= (p.Asn209=)
c.594C= (p.Asn198=)
c.369C= (p.Asn123=)
n.947C=
n.949C=
c.717C= (p.Asn239=)
n.732C=
11g.77156896C>GCA381932086MYO7Ac.627C>G (p.Asn209Lys)
c.594C>G (p.Asn198Lys)
c.369C>G (p.Asn123Lys)
n.947C>G
n.949C>G
c.717C>G (p.Asn239Lys)
n.732C>G
11g.77156896C>TCA224827220MYO7Ac.627C>T (p.Asn209=)
c.594C>T (p.Asn198=)
c.369C>T (p.Asn123=)
n.947C>T
n.949C>T
c.717C>T (p.Asn239=)
n.732C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77156897T>ACA381932087MYO7Ac.628T>A (p.Ser210Thr)
c.595T>A (p.Ser199Thr)
c.370T>A (p.Ser124Thr)
n.948T>A
n.950T>A
c.718T>A (p.Ser240Thr)
n.733T>A
11g.77156897T>CCA381932088MYO7Ac.628T>C (p.Ser210Pro)
c.595T>C (p.Ser199Pro)
c.370T>C (p.Ser124Pro)
n.948T>C
n.950T>C
c.718T>C (p.Ser240Pro)
n.733T>C
11g.77156897T>GCA381932089MYO7Ac.628T>G (p.Ser210Ala)
c.595T>G (p.Ser199Ala)
c.370T>G (p.Ser124Ala)
n.948T>G
n.950T>G
c.718T>G (p.Ser240Ala)
n.733T>G
11g.77156898C>ACA381932091MYO7Ac.629C>A (p.Ser210Ter)
c.596C>A (p.Ser199Ter)
c.371C>A (p.Ser124Ter)
n.949C>A
n.951C>A
c.719C>A (p.Ser240Ter)
n.734C>A
 dbSNP gnomAD v2
11g.77156898C=CA1984095834MYO7Ac.629C= (p.Ser210=)
c.596C= (p.Ser199=)
c.371C= (p.Ser124=)
n.949C=
n.951C=
c.719C= (p.Ser240=)
n.734C=
11g.77156898C>GCA381932092MYO7Ac.629C>G (p.Ser210Ter)
c.596C>G (p.Ser199Ter)
c.371C>G (p.Ser124Ter)
n.949C>G
n.951C>G
c.719C>G (p.Ser240Ter)
n.734C>G
 dbSNP gnomAD v2 gnomAD v4
11g.77156898C>TCA381932090MYO7Ac.629C>T (p.Ser210Leu)
c.596C>T (p.Ser199Leu)
c.371C>T (p.Ser124Leu)
n.949C>T
n.951C>T
c.719C>T (p.Ser240Leu)
n.734C>T
11g.77156899A>CCA475886857MYO7Ac.630A>C (p.Ser210=)
c.597A>C (p.Ser199=)
c.372A>C (p.Ser124=)
n.950A>C
n.952A>C
c.720A>C (p.Ser240=)
n.735A>C
 gnomAD v4
11g.77156899A>GCA475886858MYO7Ac.630A>G (p.Ser210=)
c.597A>G (p.Ser199=)
c.372A>G (p.Ser124=)
n.950A>G
n.952A>G
c.720A>G (p.Ser240=)
n.735A>G
11g.77156899A>TCA475886859MYO7Ac.630A>T (p.Ser210=)
c.597A>T (p.Ser199=)
c.372A>T (p.Ser124=)
n.950A>T
n.952A>T
c.720A>T (p.Ser240=)
n.735A>T
11g.77156900A=CA1984095839MYO7Ac.631A= (p.Ser211=)
c.598A= (p.Ser200=)
c.373A= (p.Ser125=)
n.951A=
n.953A=
c.721A= (p.Ser241=)
n.736A=
11g.77156900A>CCA381932093MYO7Ac.631A>C (p.Ser211Arg)
c.598A>C (p.Ser200Arg)
c.373A>C (p.Ser125Arg)
n.951A>C
n.953A>C
c.721A>C (p.Ser241Arg)
n.736A>C
11g.77156900A>GCA278707MYO7Ac.631A>G (p.Ser211Gly)
c.598A>G (p.Ser200Gly)
c.373A>G (p.Ser125Gly)
n.951A>G
n.953A>G
c.721A>G (p.Ser241Gly)
n.736A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156900A>TCA381932094MYO7Ac.631A>T (p.Ser211Cys)
c.598A>T (p.Ser200Cys)
c.373A>T (p.Ser125Cys)
n.951A>T
n.953A>T
c.721A>T (p.Ser241Cys)
n.736A>T
11g.77156901G>ACA381932095MYO7Ac.632G>A (p.Ser211Asn)
c.599G>A (p.Ser200Asn)
c.374G>A (p.Ser125Asn)
n.952G>A
n.954G>A
c.722G>A (p.Ser241Asn)
n.737G>A
 ClinVar dbSNP
11g.77156901G>CCA381932096MYO7Ac.632G>C (p.Ser211Thr)
c.599G>C (p.Ser200Thr)
c.374G>C (p.Ser125Thr)
n.952G>C
n.954G>C
c.722G>C (p.Ser241Thr)
n.737G>C
11g.77156901G>TCA381932097MYO7Ac.632G>T (p.Ser211Ile)
c.599G>T (p.Ser200Ile)
c.374G>T (p.Ser125Ile)
n.952G>T
n.954G>T
c.722G>T (p.Ser241Ile)
n.737G>T
11g.77156902C>ACA381932099MYO7Ac.633C>A (p.Ser211Arg)
c.600C>A (p.Ser200Arg)
c.375C>A (p.Ser125Arg)
n.953C>A
n.955C>A
c.723C>A (p.Ser241Arg)
n.738C>A
11g.77156902C>GCA381932098MYO7Ac.633C>G (p.Ser211Arg)
c.600C>G (p.Ser200Arg)
c.375C>G (p.Ser125Arg)
n.953C>G
n.955C>G
c.723C>G (p.Ser241Arg)
n.738C>G
11g.77156902C>TCA475886864MYO7Ac.633C>T (p.Ser211=)
c.600C>T (p.Ser200=)
c.375C>T (p.Ser125=)
n.953C>T
n.955C>T
c.723C>T (p.Ser241=)
n.738C>T
 ClinVar
11g.77156903C>ACA381932100MYO7Ac.634C>A (p.Arg212Ser)
c.601C>A (p.Arg201Ser)
c.376C>A (p.Arg126Ser)
n.954C>A
n.956C>A
c.724C>A (p.Arg242Ser)
n.739C>A
 dbSNP gnomAD v4
11g.77156903C=CA1984095848MYO7Ac.634C= (p.Arg212=)
c.601C= (p.Arg201=)
c.376C= (p.Arg126=)
n.954C=
n.956C=
c.724C= (p.Arg242=)
n.739C=
11g.77156903C>GCA381932101MYO7Ac.634C>G (p.Arg212Gly)
c.601C>G (p.Arg201Gly)
c.376C>G (p.Arg126Gly)
n.954C>G
n.956C>G
c.724C>G (p.Arg242Gly)
n.739C>G
11g.77156903C>TCA277962MYO7Ac.634C>T (p.Arg212Cys)
c.601C>T (p.Arg201Cys)
c.376C>T (p.Arg126Cys)
n.954C>T
n.956C>T
c.724C>T (p.Arg242Cys)
n.739C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77156904G>ACA277961MYO7Ac.635G>A (p.Arg212His)
c.602G>A (p.Arg201His)
c.377G>A (p.Arg126His)
n.955G>A
n.957G>A
c.725G>A (p.Arg242His)
n.740G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156904G>CCA381932102MYO7Ac.635G>C (p.Arg212Pro)
c.602G>C (p.Arg201Pro)
c.377G>C (p.Arg126Pro)
n.955G>C
n.957G>C
c.725G>C (p.Arg242Pro)
n.740G>C
11g.77156904G=CA1984095865MYO7Ac.635G= (p.Arg212=)
c.602G= (p.Arg201=)
c.377G= (p.Arg126=)
n.955G=
n.957G=
c.725G= (p.Arg242=)
n.740G=
11g.77156904G>TCA381932103MYO7Ac.635G>T (p.Arg212Leu)
c.602G>T (p.Arg201Leu)
c.377G>T (p.Arg126Leu)
n.955G>T
n.957G>T
c.725G>T (p.Arg242Leu)
n.740G>T
11g.77156905T>ACA475886873MYO7Ac.636T>A (p.Arg212=)
c.603T>A (p.Arg201=)
c.378T>A (p.Arg126=)
n.956T>A
n.958T>A
c.726T>A (p.Arg242=)
n.741T>A
11g.77156905T>CCA475886875MYO7Ac.636T>C (p.Arg212=)
c.603T>C (p.Arg201=)
c.378T>C (p.Arg126=)
n.956T>C
n.958T>C
c.726T>C (p.Arg242=)
n.741T>C
11g.77156905T>GCA475886876MYO7Ac.636T>G (p.Arg212=)
c.603T>G (p.Arg201=)
c.378T>G (p.Arg126=)
n.956T>G
n.958T>G
c.726T>G (p.Arg242=)
n.741T>G
11g.77156906T>ACA381932104MYO7Ac.637T>A (p.Phe213Ile)
c.604T>A (p.Phe202Ile)
c.379T>A (p.Phe127Ile)
n.957T>A
n.959T>A
c.727T>A (p.Phe243Ile)
n.742T>A
11g.77156906T>CCA381932106MYO7Ac.637T>C (p.Phe213Leu)
c.604T>C (p.Phe202Leu)
c.379T>C (p.Phe127Leu)
n.957T>C
n.959T>C
c.727T>C (p.Phe243Leu)
n.742T>C
11g.77156906T>GCA381932105MYO7Ac.637T>G (p.Phe213Val)
c.604T>G (p.Phe202Val)
c.379T>G (p.Phe127Val)
n.957T>G
n.959T>G
c.727T>G (p.Phe243Val)
n.742T>G
11g.77156907T>ACA381932107MYO7Ac.638T>A (p.Phe213Tyr)
c.605T>A (p.Phe202Tyr)
c.380T>A (p.Phe127Tyr)
n.958T>A
n.960T>A
c.728T>A (p.Phe243Tyr)
n.743T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77156907T>CCA381932108MYO7Ac.638T>C (p.Phe213Ser)
c.605T>C (p.Phe202Ser)
c.380T>C (p.Phe127Ser)
n.958T>C
n.960T>C
c.728T>C (p.Phe243Ser)
n.743T>C
11g.77156907T>GCA381932109MYO7Ac.638T>G (p.Phe213Cys)
c.605T>G (p.Phe202Cys)
c.380T>G (p.Phe127Cys)
n.958T>G
n.960T>G
c.728T>G (p.Phe243Cys)
n.743T>G
11g.77156907T=CA1984095869MYO7Ac.638T= (p.Phe213=)
c.605T= (p.Phe202=)
c.380T= (p.Phe127=)
n.958T=
n.960T=
c.728T= (p.Phe243=)
n.743T=
11g.77156908C>ACA381932110MYO7Ac.639C>A (p.Phe213Leu)
c.606C>A (p.Phe202Leu)
c.381C>A (p.Phe127Leu)
n.959C>A
n.961C>A
c.729C>A (p.Phe243Leu)
n.744C>A
11g.77156908C=CA1984095874MYO7Ac.639C= (p.Phe213=)
c.606C= (p.Phe202=)
c.381C= (p.Phe127=)
n.959C=
n.961C=
c.729C= (p.Phe243=)
n.744C=
11g.77156908C>GCA381932111MYO7Ac.639C>G (p.Phe213Leu)
c.606C>G (p.Phe202Leu)
c.381C>G (p.Phe127Leu)
n.959C>G
n.961C>G
c.729C>G (p.Phe243Leu)
n.744C>G
 ClinVar dbSNP gnomAD v4
11g.77156908C>TCA6197206MYO7Ac.639C>T (p.Phe213=)
c.606C>T (p.Phe202=)
c.381C>T (p.Phe127=)
n.959C>T
n.961C>T
c.729C>T (p.Phe243=)
n.744C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156909G>ACA278709MYO7Ac.640G>A (p.Gly214Arg)
c.607G>A (p.Gly203Arg)
c.382G>A (p.Gly128Arg)
n.960G>A
n.962G>A
c.730G>A (p.Gly244Arg)
n.745G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156909G>CCA381932112MYO7Ac.640G>C (p.Gly214Arg)
c.607G>C (p.Gly203Arg)
c.382G>C (p.Gly128Arg)
n.960G>C
n.962G>C
c.730G>C (p.Gly244Arg)
n.745G>C
11g.77156909G=CA1984095889MYO7Ac.640G= (p.Gly214=)
c.607G= (p.Gly203=)
c.382G= (p.Gly128=)
n.960G=
n.962G=
c.730G= (p.Gly244=)
n.745G=
11g.77156909G>TCA381932113MYO7Ac.640G>T (p.Gly214Ter)
c.607G>T (p.Gly203Ter)
c.382G>T (p.Gly128Ter)
n.960G>T
n.962G>T
c.730G>T (p.Gly244Ter)
n.745G>T
11g.77156910G>ACA381932114MYO7Ac.641G>A (p.Gly214Glu)
c.608G>A (p.Gly203Glu)
c.383G>A (p.Gly128Glu)
n.961G>A
n.963G>A
c.731G>A (p.Gly244Glu)
n.746G>A
11g.77156910G>CCA381932115MYO7Ac.641G>C (p.Gly214Ala)
c.608G>C (p.Gly203Ala)
c.383G>C (p.Gly128Ala)
n.961G>C
n.963G>C
c.731G>C (p.Gly244Ala)
n.746G>C
11g.77156910G>TCA381932116MYO7Ac.641G>T (p.Gly214Val)
c.608G>T (p.Gly203Val)
c.383G>T (p.Gly128Val)
n.961G>T
n.963G>T
c.731G>T (p.Gly244Val)
n.746G>T
11g.77156911A>CCA475886890MYO7Ac.642A>C (p.Gly214=)
c.609A>C (p.Gly203=)
c.384A>C (p.Gly128=)
n.962A>C
n.964A>C
c.732A>C (p.Gly244=)
n.747A>C
11g.77156911A>GCA475886888MYO7Ac.642A>G (p.Gly214=)
c.609A>G (p.Gly203=)
c.384A>G (p.Gly128=)
n.962A>G
n.964A>G
c.732A>G (p.Gly244=)
n.747A>G
11g.77156911A>TCA475886889MYO7Ac.642A>T (p.Gly214=)
c.609A>T (p.Gly203=)
c.384A>T (p.Gly128=)
n.962A>T
n.964A>T
c.732A>T (p.Gly244=)
n.747A>T
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
11g.77156925T>ACA381932152MYO7Ac.656T>A (p.Ile219Asn)
c.623T>A (p.Ile208Asn)
c.398T>A (p.Ile133Asn)
n.976T>A
n.978T>A
c.746T>A (p.Ile249Asn)
n.761T>A
 dbSNP gnomAD v3 gnomAD v4
11g.77156925T>CCA381932153MYO7Ac.656T>C (p.Ile219Thr)
c.623T>C (p.Ile208Thr)
c.398T>C (p.Ile133Thr)
n.976T>C
n.978T>C
c.746T>C (p.Ile249Thr)
n.761T>C
11g.77156925T>GCA381932154MYO7Ac.656T>G (p.Ile219Ser)
c.623T>G (p.Ile208Ser)
c.398T>G (p.Ile133Ser)
n.976T>G
n.978T>G
c.746T>G (p.Ile249Ser)
n.761T>G
11g.77156925T=CA1984095960MYO7Ac.656T= (p.Ile219=)
c.623T= (p.Ile208=)
c.398T= (p.Ile133=)
n.976T=
n.978T=
c.746T= (p.Ile249=)
n.761T=
11g.77156926C>ACA475886936MYO7Ac.657C>A (p.Ile219=)
c.624C>A (p.Ile208=)
c.399C>A (p.Ile133=)
n.977C>A
n.979C>A
c.747C>A (p.Ile249=)
n.762C>A
11g.77156926C>GCA381932155MYO7Ac.657C>G (p.Ile219Met)
c.624C>G (p.Ile208Met)
c.399C>G (p.Ile133Met)
n.977C>G
n.979C>G
c.747C>G (p.Ile249Met)
n.762C>G
11g.77156926C>TCA475886945MYO7Ac.657C>T (p.Ile219=)
c.624C>T (p.Ile208=)
c.399C>T (p.Ile133=)
n.977C>T
n.979C>T
c.747C>T (p.Ile249=)
n.762C>T
11g.77156927C>ACA381932156MYO7Ac.658C>A (p.His220Asn)
c.625C>A (p.His209Asn)
c.400C>A (p.His134Asn)
n.978C>A
n.980C>A
c.748C>A (p.His250Asn)
n.763C>A
11g.77156927C=CA1984095967MYO7Ac.658C= (p.His220=)
c.625C= (p.His209=)
c.400C= (p.His134=)
n.978C=
n.980C=
c.748C= (p.His250=)
n.763C=
11g.77156927C>GCA381932157MYO7Ac.658C>G (p.His220Asp)
c.625C>G (p.His209Asp)
c.400C>G (p.His134Asp)
n.978C>G
n.980C>G
c.748C>G (p.His250Asp)
n.763C>G
11g.77156927C>TCA6197207MYO7Ac.658C>T (p.His220Tyr)
c.625C>T (p.His209Tyr)
c.400C>T (p.His134Tyr)
n.978C>T
n.980C>T
c.748C>T (p.His250Tyr)
n.763C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156928A>CCA381932158MYO7Ac.659A>C (p.His220Pro)
c.626A>C (p.His209Pro)
c.401A>C (p.His134Pro)
n.979A>C
n.981A>C
c.749A>C (p.His250Pro)
n.764A>C
 gnomAD v4
11g.77156928A>GCA381932159MYO7Ac.659A>G (p.His220Arg)
c.626A>G (p.His209Arg)
c.401A>G (p.His134Arg)
n.979A>G
n.981A>G
c.749A>G (p.His250Arg)
n.764A>G
 ClinVar dbSNP gnomAD v4
11g.77156928A>TCA381932160MYO7Ac.659A>T (p.His220Leu)
c.626A>T (p.His209Leu)
c.401A>T (p.His134Leu)
n.979A>T
n.981A>T
c.749A>T (p.His250Leu)
n.764A>T
11g.77156929C>ACA381932161MYO7Ac.660C>A (p.His220Gln)
c.627C>A (p.His209Gln)
c.402C>A (p.His134Gln)
n.980C>A
n.982C>A
c.750C>A (p.His250Gln)
n.765C>A
11g.77156929C=CA1984095971MYO7Ac.660C= (p.His220=)
c.627C= (p.His209=)
c.402C= (p.His134=)
n.980C=
n.982C=
c.750C= (p.His250=)
n.765C=
11g.77156929C>GCA381932162MYO7Ac.660C>G (p.His220Gln)
c.627C>G (p.His209Gln)
c.402C>G (p.His134Gln)
n.980C>G
n.982C>G
c.750C>G (p.His250Gln)
n.765C>G
11g.77156929C>TCA475886957MYO7Ac.660C>T (p.His220=)
c.627C>T (p.His209=)
c.402C>T (p.His134=)
n.980C>T
n.982C>T
c.750C>T (p.His250=)
n.765C>T
 ClinVar dbSNP
11g.77156930T>ACA381932163MYO7Ac.661T>A (p.Phe221Ile)
c.628T>A (p.Phe210Ile)
c.403T>A (p.Phe135Ile)
n.981T>A
n.983T>A
c.751T>A (p.Phe251Ile)
n.766T>A
11g.77156930T>CCA381932164MYO7Ac.661T>C (p.Phe221Leu)
c.628T>C (p.Phe210Leu)
c.403T>C (p.Phe135Leu)
n.981T>C
n.983T>C
c.751T>C (p.Phe251Leu)
n.766T>C
11g.77156930T>GCA381932165MYO7Ac.661T>G (p.Phe221Val)
c.628T>G (p.Phe210Val)
c.403T>G (p.Phe135Val)
n.981T>G
n.983T>G
c.751T>G (p.Phe251Val)
n.766T>G
 gnomAD v4
11g.77156931delCA2615246713MYO7Ac.662del (p.Phe221SerfsTer?)
c.629del (p.Phe210SerfsTer?)
c.404del (p.Phe135SerfsTer?)
n.982del
n.984del
c.752del (p.Phe251SerfsTer?)
n.767del
 gnomAD v4
11g.77156931T>ACA381932166MYO7Ac.662T>A (p.Phe221Tyr)
c.629T>A (p.Phe210Tyr)
c.404T>A (p.Phe135Tyr)
n.982T>A
n.984T>A
c.752T>A (p.Phe251Tyr)
n.767T>A
11g.77156931T>CCA381932167MYO7Ac.662T>C (p.Phe221Ser)
c.629T>C (p.Phe210Ser)
c.404T>C (p.Phe135Ser)
n.982T>C
n.984T>C
c.752T>C (p.Phe251Ser)
n.767T>C
11g.77156931T>GCA381932168MYO7Ac.662T>G (p.Phe221Cys)
c.629T>G (p.Phe210Cys)
c.404T>G (p.Phe135Cys)
n.982T>G
n.984T>G
c.752T>G (p.Phe251Cys)
n.767T>G
11g.77156932C>ACA381932169MYO7Ac.663C>A (p.Phe221Leu)
c.630C>A (p.Phe210Leu)
c.405C>A (p.Phe135Leu)
n.983C>A
n.985C>A
c.753C>A (p.Phe251Leu)
n.768C>A
11g.77156932C=CA1984095974MYO7Ac.663C= (p.Phe221=)
c.630C= (p.Phe210=)
c.405C= (p.Phe135=)
n.983C=
n.985C=
c.753C= (p.Phe251=)
n.768C=
11g.77156932C>GCA381932170MYO7Ac.663C>G (p.Phe221Leu)
c.630C>G (p.Phe210Leu)
c.405C>G (p.Phe135Leu)
n.983C>G
n.985C>G
c.753C>G (p.Phe251Leu)
n.768C>G
11g.77156932C>TCA475886966MYO7Ac.663C>T (p.Phe221=)
c.630C>T (p.Phe210=)
c.405C>T (p.Phe135=)
n.983C>T
n.985C>T
c.753C>T (p.Phe251=)
n.768C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77156933A>CCA381932173MYO7Ac.664A>C (p.Asn222His)
c.631A>C (p.Asn211His)
c.406A>C (p.Asn136His)
n.984A>C
n.986A>C
c.754A>C (p.Asn252His)
n.769A>C
11g.77156933A>GCA381932171MYO7Ac.664A>G (p.Asn222Asp)
c.631A>G (p.Asn211Asp)
c.406A>G (p.Asn136Asp)
n.984A>G
n.986A>G
c.754A>G (p.Asn252Asp)
n.769A>G
11g.77156933A>TCA381932172MYO7Ac.664A>T (p.Asn222Tyr)
c.631A>T (p.Asn211Tyr)
c.406A>T (p.Asn136Tyr)
n.984A>T
n.986A>T
c.754A>T (p.Asn252Tyr)
n.769A>T
11g.77156934A=CA1984095978MYO7Ac.665A= (p.Asn222=)
c.632A= (p.Asn211=)
c.407A= (p.Asn136=)
n.985A=
n.987A=
c.755A= (p.Asn252=)
n.770A=
11g.77156934A>CCA381932174MYO7Ac.665A>C (p.Asn222Thr)
c.632A>C (p.Asn211Thr)
c.407A>C (p.Asn136Thr)
n.985A>C
n.987A>C
c.755A>C (p.Asn252Thr)
n.770A>C
11g.77156934A>GCA381932175MYO7Ac.665A>G (p.Asn222Ser)
c.632A>G (p.Asn211Ser)
c.407A>G (p.Asn136Ser)
n.985A>G
n.987A>G
c.755A>G (p.Asn252Ser)
n.770A>G
11g.77156934A>TCA381932176MYO7Ac.665A>T (p.Asn222Ile)
c.632A>T (p.Asn211Ile)
c.407A>T (p.Asn136Ile)
n.985A>T
n.987A>T
c.755A>T (p.Asn252Ile)
n.770A>T
 dbSNP gnomAD v2 gnomAD v4
11g.77156935C>ACA381932177MYO7Ac.666C>A (p.Asn222Lys)
c.633C>A (p.Asn211Lys)
c.408C>A (p.Asn136Lys)
n.986C>A
n.988C>A
c.756C>A (p.Asn252Lys)
n.771C>A
 dbSNP gnomAD v4
11g.77156935C=CA1984095981MYO7Ac.666C= (p.Asn222=)
c.633C= (p.Asn211=)
c.408C= (p.Asn136=)
n.986C=
n.988C=
c.756C= (p.Asn252=)
n.771C=
11g.77156935C>GCA381932178MYO7Ac.666C>G (p.Asn222Lys)
c.633C>G (p.Asn211Lys)
c.408C>G (p.Asn136Lys)
n.986C>G
n.988C>G
c.756C>G (p.Asn252Lys)
n.771C>G
 dbSNP
11g.77156935C>TCA475886978MYO7Ac.666C>T (p.Asn222=)
c.633C>T (p.Asn211=)
c.408C>T (p.Asn136=)
n.986C>T
n.988C>T
c.756C>T (p.Asn252=)
n.771C>T
 ClinVar gnomAD v4
11g.77156936A>CCA381932179MYO7Ac.667A>C (p.Lys223Gln)
c.634A>C (p.Lys212Gln)
c.409A>C (p.Lys137Gln)
n.987A>C
n.989A>C
c.757A>C (p.Lys253Gln)
n.772A>C
11g.77156936A>GCA381932180MYO7Ac.667A>G (p.Lys223Glu)
c.634A>G (p.Lys212Glu)
c.409A>G (p.Lys137Glu)
n.987A>G
n.989A>G
c.757A>G (p.Lys253Glu)
n.772A>G
11g.77156936A>TCA381932181MYO7Ac.667A>T (p.Lys223Ter)
c.634A>T (p.Lys212Ter)
c.409A>T (p.Lys137Ter)
n.987A>T
n.989A>T
c.757A>T (p.Lys253Ter)
n.772A>T
11g.77156937A>CCA381932182MYO7Ac.668A>C (p.Lys223Thr)
c.635A>C (p.Lys212Thr)
c.410A>C (p.Lys137Thr)
n.988A>C
n.990A>C
c.758A>C (p.Lys253Thr)
n.773A>C
11g.77156937A>GCA381932183MYO7Ac.668A>G (p.Lys223Arg)
c.635A>G (p.Lys212Arg)
c.410A>G (p.Lys137Arg)
n.988A>G
n.990A>G
c.758A>G (p.Lys253Arg)
n.773A>G
11g.77156937A>TCA381932184MYO7Ac.668A>T (p.Lys223Met)
c.635A>T (p.Lys212Met)
c.410A>T (p.Lys137Met)
n.988A>T
n.990A>T
c.758A>T (p.Lys253Met)
n.773A>T
11g.77156938G>ACA6197208MYO7Ac.669G>A (p.Lys223=)
c.636G>A (p.Lys212=)
c.411G>A (p.Lys137=)
n.989G>A
n.991G>A
c.759G>A (p.Lys253=)
n.774G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156938G>CCA381932186MYO7Ac.669G>C (p.Lys223Asn)
c.636G>C (p.Lys212Asn)
c.411G>C (p.Lys137Asn)
n.989G>C
n.991G>C
c.759G>C (p.Lys253Asn)
n.774G>C
11g.77156938G=CA1984095985MYO7Ac.669G= (p.Lys223=)
c.636G= (p.Lys212=)
c.411G= (p.Lys137=)
n.989G=
n.991G=
c.759G= (p.Lys253=)
n.774G=
11g.77156938G>TCA381932185MYO7Ac.669G>T (p.Lys223Asn)
c.636G>T (p.Lys212Asn)
c.411G>T (p.Lys137Asn)
n.989G>T
n.991G>T
c.759G>T (p.Lys253Asn)
n.774G>T
 dbSNP gnomAD v3 gnomAD v4
11g.77156939C>ACA475886992MYO7Ac.670C>A (p.Arg224=)
c.637C>A (p.Arg213=)
c.412C>A (p.Arg138=)
n.990C>A
n.992C>A
c.760C>A (p.Arg254=)
n.775C>A
 gnomAD v4
11g.77156939C=CA1984095988MYO7Ac.670C= (p.Arg224=)
c.637C= (p.Arg213=)
c.412C= (p.Arg138=)
n.990C=
n.992C=
c.760C= (p.Arg254=)
n.775C=
11g.77156939C>GCA381932187MYO7Ac.670C>G (p.Arg224Gly)
c.637C>G (p.Arg213Gly)
c.412C>G (p.Arg138Gly)
n.990C>G
n.992C>G
c.760C>G (p.Arg254Gly)
n.775C>G
11g.77156939C>TCA6197209MYO7Ac.670C>T (p.Arg224Trp)
c.637C>T (p.Arg213Trp)
c.412C>T (p.Arg138Trp)
n.990C>T
n.992C>T
c.760C>T (p.Arg254Trp)
n.775C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77156940G>ACA6197210MYO7Ac.671G>A (p.Arg224Gln)
c.638G>A (p.Arg213Gln)
c.413G>A (p.Arg138Gln)
n.991G>A
n.993G>A
c.761G>A (p.Arg254Gln)
n.776G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156940G>CCA381932188MYO7Ac.671G>C (p.Arg224Pro)
c.638G>C (p.Arg213Pro)
c.413G>C (p.Arg138Pro)
n.991G>C
n.993G>C
c.761G>C (p.Arg254Pro)
n.776G>C
11g.77156940G=CA1984095993MYO7Ac.671G= (p.Arg224=)
c.638G= (p.Arg213=)
c.413G= (p.Arg138=)
n.991G=
n.993G=
c.761G= (p.Arg254=)
n.776G=
11g.77156940G>TCA6197211MYO7Ac.671G>T (p.Arg224Leu)
c.638G>T (p.Arg213Leu)
c.413G>T (p.Arg138Leu)
n.991G>T
n.993G>T
c.761G>T (p.Arg254Leu)
n.776G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77156943dupCA2697548811MYO7Ac.674dup (p.Ala226ArgfsTer8)
c.641dup (p.Ala215ArgfsTer8)
c.416dup (p.Ala140ArgfsTer8)
n.994dup
n.996dup
c.764dup (p.Ala256ArgfsTer8)
n.779dup
 ClinVar
11g.77156941G>ACA475886999MYO7Ac.672G>A (p.Arg224=)
c.639G>A (p.Arg213=)
c.414G>A (p.Arg138=)
n.992G>A
n.994G>A
c.762G>A (p.Arg254=)
n.777G>A
 dbSNP gnomAD v3 gnomAD v4
11g.77156941G>CCA475887002MYO7Ac.672G>C (p.Arg224=)
c.639G>C (p.Arg213=)
c.414G>C (p.Arg138=)
n.992G>C
n.994G>C
c.762G>C (p.Arg254=)
n.777G>C
11g.77156941G=CA1984096001MYO7Ac.672G= (p.Arg224=)
c.639G= (p.Arg213=)
c.414G= (p.Arg138=)
n.992G=
n.994G=
c.762G= (p.Arg254=)
n.777G=
11g.77156941G>TCA475887004MYO7Ac.672G>T (p.Arg224=)
c.639G>T (p.Arg213=)
c.414G>T (p.Arg138=)
n.992G>T
n.994G>T
c.762G>T (p.Arg254=)
n.777G>T
 gnomAD v4
11g.77156942G>ACA224827235MYO7Ac.673G>A (p.Gly225Ser)
c.640G>A (p.Gly214Ser)
c.415G>A (p.Gly139Ser)
n.993G>A
n.995G>A
c.763G>A (p.Gly255Ser)
n.778G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77156942G>CCA381932189MYO7Ac.673G>C (p.Gly225Arg)
c.640G>C (p.Gly214Arg)
c.415G>C (p.Gly139Arg)
n.993G>C
n.995G>C
c.763G>C (p.Gly255Arg)
n.778G>C
11g.77156942G=CA1984096005MYO7Ac.673G= (p.Gly225=)
c.640G= (p.Gly214=)
c.415G= (p.Gly139=)
n.993G=
n.995G=
c.763G= (p.Gly255=)
n.778G=
11g.77156942G>TCA381932190MYO7Ac.673G>T (p.Gly225Cys)
c.640G>T (p.Gly214Cys)
c.415G>T (p.Gly139Cys)
n.993G>T
n.995G>T
c.763G>T (p.Gly255Cys)
n.778G>T
11g.77156943G>ACA381932191MYO7Ac.674G>A (p.Gly225Asp)
c.641G>A (p.Gly214Asp)
c.416G>A (p.Gly139Asp)
n.994G>A
n.996G>A
c.764G>A (p.Gly255Asp)
n.779G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77156943G>CCA381932192MYO7Ac.674G>C (p.Gly225Ala)
c.641G>C (p.Gly214Ala)
c.416G>C (p.Gly139Ala)
n.994G>C
n.996G>C
c.764G>C (p.Gly255Ala)
n.779G>C
 dbSNP gnomAD v2
11g.77156943G=CA1984096007MYO7Ac.674G= (p.Gly225=)
c.641G= (p.Gly214=)
c.416G= (p.Gly139=)
n.994G=
n.996G=
c.764G= (p.Gly255=)
n.779G=
11g.77156943G>TCA381932193MYO7Ac.674G>T (p.Gly225Val)
c.641G>T (p.Gly214Val)
c.416G>T (p.Gly139Val)
n.994G>T
n.996G>T
c.764G>T (p.Gly255Val)
n.779G>T
11g.77156944C>ACA475887010MYO7Ac.675C>A (p.Gly225=)
c.642C>A (p.Gly214=)
c.417C>A (p.Gly139=)
n.995C>A
n.997C>A
c.765C>A (p.Gly255=)
n.780C>A
 ClinVar dbSNP
11g.77156944C=CA1984096013MYO7Ac.675C= (p.Gly225=)
c.642C= (p.Gly214=)
c.417C= (p.Gly139=)
n.995C=
n.997C=
c.765C= (p.Gly255=)
n.780C=
11g.77156944C>GCA475887012MYO7Ac.675C>G (p.Gly225=)
c.642C>G (p.Gly214=)
c.417C>G (p.Gly139=)
n.995C>G
n.997C>G
c.765C>G (p.Gly255=)
n.780C>G
11g.77156944C>TCA6197212MYO7Ac.675C>T (p.Gly225=)
c.642C>T (p.Gly214=)
c.417C>T (p.Gly139=)
n.995C>T
n.997C>T
c.765C>T (p.Gly255=)
n.780C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156945G>ACA6197213MYO7Ac.676G>A (p.Ala226Thr)
c.643G>A (p.Ala215Thr)
c.418G>A (p.Ala140Thr)
n.996G>A
n.998G>A
c.766G>A (p.Ala256Thr)
n.781G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156945G>CCA381932195MYO7Ac.676G>C (p.Ala226Pro)
c.643G>C (p.Ala215Pro)
c.418G>C (p.Ala140Pro)
n.996G>C
n.998G>C
c.766G>C (p.Ala256Pro)
n.781G>C
11g.77156945G=CA1984096020MYO7Ac.676G= (p.Ala226=)
c.643G= (p.Ala215=)
c.418G= (p.Ala140=)
n.996G=
n.998G=
c.766G= (p.Ala256=)
n.781G=
11g.77156945G>TCA381932194MYO7Ac.676G>T (p.Ala226Ser)
c.643G>T (p.Ala215Ser)
c.418G>T (p.Ala140Ser)
n.996G>T
n.998G>T
c.766G>T (p.Ala256Ser)
n.781G>T
11g.77156946C>ACA381932196MYO7Ac.677C>A (p.Ala226Asp)
c.644C>A (p.Ala215Asp)
c.419C>A (p.Ala140Asp)
n.997C>A
n.999C>A
c.767C>A (p.Ala256Asp)
n.782C>A
11g.77156946C>GCA381932197MYO7Ac.677C>G (p.Ala226Gly)
c.644C>G (p.Ala215Gly)
c.419C>G (p.Ala140Gly)
n.997C>G
n.999C>G
c.767C>G (p.Ala256Gly)
n.782C>G
11g.77156946C>TCA381932198MYO7Ac.677C>T (p.Ala226Val)
c.644C>T (p.Ala215Val)
c.419C>T (p.Ala140Val)
n.997C>T
n.999C>T
c.767C>T (p.Ala256Val)
n.782C>T
 ClinVar dbSNP
11g.77156947C>ACA6197214MYO7Ac.678C>A (p.Ala226=)
c.645C>A (p.Ala215=)
c.420C>A (p.Ala140=)
n.998C>A
n.1000C>A
c.768C>A (p.Ala256=)
n.783C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77156947C=CA1984096029MYO7Ac.678C= (p.Ala226=)
c.645C= (p.Ala215=)
c.420C= (p.Ala140=)
n.998C=
n.1000C=
c.768C= (p.Ala256=)
n.783C=
11g.77156947C>GCA475887018MYO7Ac.678C>G (p.Ala226=)
c.645C>G (p.Ala215=)
c.420C>G (p.Ala140=)
n.998C>G
n.1000C>G
c.768C>G (p.Ala256=)
n.783C>G
11g.77156947C>TCA475887019MYO7Ac.678C>T (p.Ala226=)
c.645C>T (p.Ala215=)
c.420C>T (p.Ala140=)
n.998C>T
n.1000C>T
c.768C>T (p.Ala256=)
n.783C>T

Number of alleles fetched