Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77211230dupCA2792788393MYO7Ac.6130dup (p.Val2044GlyfsTer?)
c.3931dup
c.5983dup (p.Val1995GlyfsTer?)
c.3556dup (p.Val1186GlyfsTer?)
c.6016dup (p.Val2006GlyfsTer?)
n.3666dup
n.25+319dup
n.1597dup
c.6013dup (p.Val2005GlyfsTer?)
c.6121dup (p.Val2041GlyfsTer?)
c.6124dup (p.Val2042GlyfsTer?)
c.6097dup (p.Val2033GlyfsTer?)
c.6034dup (p.Val2012GlyfsTer?)
c.5905dup (p.Val1969GlyfsTer?)
c.5893dup (p.Val1965GlyfsTer?)
c.5866dup (p.Val1956GlyfsTer?)
n.6450dup
n.6424dup
c.6220dup (p.Val2074GlyfsTer?)
c.6214dup (p.Val2072GlyfsTer?)
c.6211dup (p.Val2071GlyfsTer?)
c.6106dup (p.Val2036GlyfsTer?)
c.6103dup (p.Val2035GlyfsTer?)
n.6209dup
n.6150dup
n.6195dup
11g.77211230delCA2580084906MYO7Ac.6130del (p.Val2044SerfsTer?)
c.3931del
c.5983del (p.Val1995SerfsTer?)
c.3556del (p.Val1186SerfsTer?)
c.6016del (p.Val2006SerfsTer?)
n.3666del
n.25+319del
n.1597del
c.6013del (p.Val2005SerfsTer?)
c.6121del (p.Val2041SerfsTer?)
c.6124del (p.Val2042SerfsTer?)
c.6097del (p.Val2033SerfsTer?)
c.6034del (p.Val2012SerfsTer?)
c.5905del (p.Val1969SerfsTer?)
c.5893del (p.Val1965SerfsTer?)
c.5866del (p.Val1956SerfsTer?)
n.6450del
n.6424del
c.6220del (p.Val2074SerfsTer?)
c.6214del (p.Val2072SerfsTer?)
c.6211del (p.Val2071SerfsTer?)
c.6106del (p.Val2036SerfsTer?)
c.6103del (p.Val2035SerfsTer?)
n.6209del
n.6150del
n.6195del
 ClinVar
11g.77211229G>ACA475791957MYO7Ac.6129G>A (p.Arg2043=)
c.3930G>A
c.5982G>A (p.Arg1994=)
c.3555G>A (p.Arg1185=)
c.6015G>A (p.Arg2005=)
n.3665G>A
n.25+318G>A
n.1596G>A
c.6012G>A (p.Arg2004=)
c.6120G>A (p.Arg2040=)
c.6123G>A (p.Arg2041=)
c.6096G>A (p.Arg2032=)
c.6033G>A (p.Arg2011=)
c.5904G>A (p.Arg1968=)
c.5892G>A (p.Arg1964=)
c.5865G>A (p.Arg1955=)
n.6449G>A
n.6423G>A
c.6219G>A (p.Arg2073=)
c.6213G>A (p.Arg2071=)
c.6210G>A (p.Arg2070=)
c.6105G>A (p.Arg2035=)
c.6102G>A (p.Arg2034=)
n.6208G>A
n.6149G>A
n.6194G>A
 gnomAD v4
11g.77211229G>CCA381935858MYO7Ac.6129G>C (p.Arg2043Ser)
c.3930G>C
c.5982G>C (p.Arg1994Ser)
c.3555G>C (p.Arg1185Ser)
c.6015G>C (p.Arg2005Ser)
n.3665G>C
n.25+318G>C
n.1596G>C
c.6012G>C (p.Arg2004Ser)
c.6120G>C (p.Arg2040Ser)
c.6123G>C (p.Arg2041Ser)
c.6096G>C (p.Arg2032Ser)
c.6033G>C (p.Arg2011Ser)
c.5904G>C (p.Arg1968Ser)
c.5892G>C (p.Arg1964Ser)
c.5865G>C (p.Arg1955Ser)
n.6449G>C
n.6423G>C
c.6219G>C (p.Arg2073Ser)
c.6213G>C (p.Arg2071Ser)
c.6210G>C (p.Arg2070Ser)
c.6105G>C (p.Arg2035Ser)
c.6102G>C (p.Arg2034Ser)
n.6208G>C
n.6149G>C
n.6194G>C
11g.77211229G=CA1984129869MYO7Ac.6129G= (p.Arg2043=)
c.3930G=
c.5982G= (p.Arg1994=)
c.3555G= (p.Arg1185=)
c.6015G= (p.Arg2005=)
n.3665G=
n.25+318G=
n.1596G=
c.6012G= (p.Arg2004=)
c.6120G= (p.Arg2040=)
c.6123G= (p.Arg2041=)
c.6096G= (p.Arg2032=)
c.6033G= (p.Arg2011=)
c.5904G= (p.Arg1968=)
c.5892G= (p.Arg1964=)
c.5865G= (p.Arg1955=)
n.6449G=
n.6423G=
c.6219G= (p.Arg2073=)
c.6213G= (p.Arg2071=)
c.6210G= (p.Arg2070=)
c.6105G= (p.Arg2035=)
c.6102G= (p.Arg2034=)
n.6208G=
n.6149G=
n.6194G=
11g.77211229G>TCA381935859MYO7Ac.6129G>T (p.Arg2043Ser)
c.3930G>T
c.5982G>T (p.Arg1994Ser)
c.3555G>T (p.Arg1185Ser)
c.6015G>T (p.Arg2005Ser)
n.3665G>T
n.25+318G>T
n.1596G>T
c.6012G>T (p.Arg2004Ser)
c.6120G>T (p.Arg2040Ser)
c.6123G>T (p.Arg2041Ser)
c.6096G>T (p.Arg2032Ser)
c.6033G>T (p.Arg2011Ser)
c.5904G>T (p.Arg1968Ser)
c.5892G>T (p.Arg1964Ser)
c.5865G>T (p.Arg1955Ser)
n.6449G>T
n.6423G>T
c.6219G>T (p.Arg2073Ser)
c.6213G>T (p.Arg2071Ser)
c.6210G>T (p.Arg2070Ser)
c.6105G>T (p.Arg2035Ser)
c.6102G>T (p.Arg2034Ser)
n.6208G>T
n.6149G>T
n.6194G>T
 dbSNP
11g.77211230G>ACA381935864MYO7Ac.6130G>A (p.Val2044Ile)
c.3931G>A
c.5983G>A (p.Val1995Ile)
c.3556G>A (p.Val1186Ile)
c.6016G>A (p.Val2006Ile)
n.3666G>A
n.25+319G>A
n.1597G>A
c.6013G>A (p.Val2005Ile)
c.6121G>A (p.Val2041Ile)
c.6124G>A (p.Val2042Ile)
c.6097G>A (p.Val2033Ile)
c.6034G>A (p.Val2012Ile)
c.5905G>A (p.Val1969Ile)
c.5893G>A (p.Val1965Ile)
c.5866G>A (p.Val1956Ile)
n.6450G>A
n.6424G>A
c.6220G>A (p.Val2074Ile)
c.6214G>A (p.Val2072Ile)
c.6211G>A (p.Val2071Ile)
c.6106G>A (p.Val2036Ile)
c.6103G>A (p.Val2035Ile)
n.6209G>A
n.6150G>A
n.6195G>A
 gnomAD v4
11g.77211230G>CCA381935866MYO7Ac.6130G>C (p.Val2044Leu)
c.3931G>C
c.5983G>C (p.Val1995Leu)
c.3556G>C (p.Val1186Leu)
c.6016G>C (p.Val2006Leu)
n.3666G>C
n.25+319G>C
n.1597G>C
c.6013G>C (p.Val2005Leu)
c.6121G>C (p.Val2041Leu)
c.6124G>C (p.Val2042Leu)
c.6097G>C (p.Val2033Leu)
c.6034G>C (p.Val2012Leu)
c.5905G>C (p.Val1969Leu)
c.5893G>C (p.Val1965Leu)
c.5866G>C (p.Val1956Leu)
n.6450G>C
n.6424G>C
c.6220G>C (p.Val2074Leu)
c.6214G>C (p.Val2072Leu)
c.6211G>C (p.Val2071Leu)
c.6106G>C (p.Val2036Leu)
c.6103G>C (p.Val2035Leu)
n.6209G>C
n.6150G>C
n.6195G>C
11g.77211230G>TCA381935862MYO7Ac.6130G>T (p.Val2044Phe)
c.3931G>T
c.5983G>T (p.Val1995Phe)
c.3556G>T (p.Val1186Phe)
c.6016G>T (p.Val2006Phe)
n.3666G>T
n.25+319G>T
n.1597G>T
c.6013G>T (p.Val2005Phe)
c.6121G>T (p.Val2041Phe)
c.6124G>T (p.Val2042Phe)
c.6097G>T (p.Val2033Phe)
c.6034G>T (p.Val2012Phe)
c.5905G>T (p.Val1969Phe)
c.5893G>T (p.Val1965Phe)
c.5866G>T (p.Val1956Phe)
n.6450G>T
n.6424G>T
c.6220G>T (p.Val2074Phe)
c.6214G>T (p.Val2072Phe)
c.6211G>T (p.Val2071Phe)
c.6106G>T (p.Val2036Phe)
c.6103G>T (p.Val2035Phe)
n.6209G>T
n.6150G>T
n.6195G>T
 gnomAD v4
11g.77211231T>ACA381935870MYO7Ac.6131T>A (p.Val2044Asp)
c.3932T>A
c.5984T>A (p.Val1995Asp)
c.3557T>A (p.Val1186Asp)
c.6017T>A (p.Val2006Asp)
n.3667T>A
n.25+320T>A
n.1598T>A
c.6014T>A (p.Val2005Asp)
c.6122T>A (p.Val2041Asp)
c.6125T>A (p.Val2042Asp)
c.6098T>A (p.Val2033Asp)
c.6035T>A (p.Val2012Asp)
c.5906T>A (p.Val1969Asp)
c.5894T>A (p.Val1965Asp)
c.5867T>A (p.Val1956Asp)
n.6451T>A
n.6425T>A
c.6221T>A (p.Val2074Asp)
c.6215T>A (p.Val2072Asp)
c.6212T>A (p.Val2071Asp)
c.6107T>A (p.Val2036Asp)
c.6104T>A (p.Val2035Asp)
n.6210T>A
n.6151T>A
n.6196T>A
11g.77211231T>CCA381935872MYO7Ac.6131T>C (p.Val2044Ala)
c.3932T>C
c.5984T>C (p.Val1995Ala)
c.3557T>C (p.Val1186Ala)
c.6017T>C (p.Val2006Ala)
n.3667T>C
n.25+320T>C
n.1598T>C
c.6014T>C (p.Val2005Ala)
c.6122T>C (p.Val2041Ala)
c.6125T>C (p.Val2042Ala)
c.6098T>C (p.Val2033Ala)
c.6035T>C (p.Val2012Ala)
c.5906T>C (p.Val1969Ala)
c.5894T>C (p.Val1965Ala)
c.5867T>C (p.Val1956Ala)
n.6451T>C
n.6425T>C
c.6221T>C (p.Val2074Ala)
c.6215T>C (p.Val2072Ala)
c.6212T>C (p.Val2071Ala)
c.6107T>C (p.Val2036Ala)
c.6104T>C (p.Val2035Ala)
n.6210T>C
n.6151T>C
n.6196T>C
 gnomAD v4
11g.77211231T>GCA381935873MYO7Ac.6131T>G (p.Val2044Gly)
c.3932T>G
c.5984T>G (p.Val1995Gly)
c.3557T>G (p.Val1186Gly)
c.6017T>G (p.Val2006Gly)
n.3667T>G
n.25+320T>G
n.1598T>G
c.6014T>G (p.Val2005Gly)
c.6122T>G (p.Val2041Gly)
c.6125T>G (p.Val2042Gly)
c.6098T>G (p.Val2033Gly)
c.6035T>G (p.Val2012Gly)
c.5906T>G (p.Val1969Gly)
c.5894T>G (p.Val1965Gly)
c.5867T>G (p.Val1956Gly)
n.6451T>G
n.6425T>G
c.6221T>G (p.Val2074Gly)
c.6215T>G (p.Val2072Gly)
c.6212T>G (p.Val2071Gly)
c.6107T>G (p.Val2036Gly)
c.6104T>G (p.Val2035Gly)
n.6210T>G
n.6151T>G
n.6196T>G
11g.77211232C>ACA475791961MYO7Ac.6132C>A (p.Val2044=)
c.3933C>A
c.5985C>A (p.Val1995=)
c.3558C>A (p.Val1186=)
c.6018C>A (p.Val2006=)
n.3668C>A
n.25+321C>A
n.1599C>A
c.6015C>A (p.Val2005=)
c.6123C>A (p.Val2041=)
c.6126C>A (p.Val2042=)
c.6099C>A (p.Val2033=)
c.6036C>A (p.Val2012=)
c.5907C>A (p.Val1969=)
c.5895C>A (p.Val1965=)
c.5868C>A (p.Val1956=)
n.6452C>A
n.6426C>A
c.6222C>A (p.Val2074=)
c.6216C>A (p.Val2072=)
c.6213C>A (p.Val2071=)
c.6108C>A (p.Val2036=)
c.6105C>A (p.Val2035=)
n.6211C>A
n.6152C>A
n.6197C>A
 gnomAD v4
11g.77211232C>GCA475791963MYO7Ac.6132C>G (p.Val2044=)
c.3933C>G
c.5985C>G (p.Val1995=)
c.3558C>G (p.Val1186=)
c.6018C>G (p.Val2006=)
n.3668C>G
n.25+321C>G
n.1599C>G
c.6015C>G (p.Val2005=)
c.6123C>G (p.Val2041=)
c.6126C>G (p.Val2042=)
c.6099C>G (p.Val2033=)
c.6036C>G (p.Val2012=)
c.5907C>G (p.Val1969=)
c.5895C>G (p.Val1965=)
c.5868C>G (p.Val1956=)
n.6452C>G
n.6426C>G
c.6222C>G (p.Val2074=)
c.6216C>G (p.Val2072=)
c.6213C>G (p.Val2071=)
c.6108C>G (p.Val2036=)
c.6105C>G (p.Val2035=)
n.6211C>G
n.6152C>G
n.6197C>G
11g.77211232C>TCA475791964MYO7Ac.6132C>T (p.Val2044=)
c.3933C>T
c.5985C>T (p.Val1995=)
c.3558C>T (p.Val1186=)
c.6018C>T (p.Val2006=)
n.3668C>T
n.25+321C>T
n.1599C>T
c.6015C>T (p.Val2005=)
c.6123C>T (p.Val2041=)
c.6126C>T (p.Val2042=)
c.6099C>T (p.Val2033=)
c.6036C>T (p.Val2012=)
c.5907C>T (p.Val1969=)
c.5895C>T (p.Val1965=)
c.5868C>T (p.Val1956=)
n.6452C>T
n.6426C>T
c.6222C>T (p.Val2074=)
c.6216C>T (p.Val2072=)
c.6213C>T (p.Val2071=)
c.6108C>T (p.Val2036=)
c.6105C>T (p.Val2035=)
n.6211C>T
n.6152C>T
n.6197C>T
11g.77211233A>CCA381935874MYO7Ac.6133A>C (p.Lys2045Gln)
c.3934A>C
c.5986A>C (p.Lys1996Gln)
c.3559A>C (p.Lys1187Gln)
c.6019A>C (p.Lys2007Gln)
n.3669A>C
n.25+322A>C
n.1600A>C
c.6016A>C (p.Lys2006Gln)
c.6124A>C (p.Lys2042Gln)
c.6127A>C (p.Lys2043Gln)
c.6100A>C (p.Lys2034Gln)
c.6037A>C (p.Lys2013Gln)
c.5908A>C (p.Lys1970Gln)
c.5896A>C (p.Lys1966Gln)
c.5869A>C (p.Lys1957Gln)
n.6453A>C
n.6427A>C
c.6223A>C (p.Lys2075Gln)
c.6217A>C (p.Lys2073Gln)
c.6214A>C (p.Lys2072Gln)
c.6109A>C (p.Lys2037Gln)
c.6106A>C (p.Lys2036Gln)
n.6212A>C
n.6153A>C
n.6198A>C
11g.77211233A>GCA381935875MYO7Ac.6133A>G (p.Lys2045Glu)
c.3934A>G
c.5986A>G (p.Lys1996Glu)
c.3559A>G (p.Lys1187Glu)
c.6019A>G (p.Lys2007Glu)
n.3669A>G
n.25+322A>G
n.1600A>G
c.6016A>G (p.Lys2006Glu)
c.6124A>G (p.Lys2042Glu)
c.6127A>G (p.Lys2043Glu)
c.6100A>G (p.Lys2034Glu)
c.6037A>G (p.Lys2013Glu)
c.5908A>G (p.Lys1970Glu)
c.5896A>G (p.Lys1966Glu)
c.5869A>G (p.Lys1957Glu)
n.6453A>G
n.6427A>G
c.6223A>G (p.Lys2075Glu)
c.6217A>G (p.Lys2073Glu)
c.6214A>G (p.Lys2072Glu)
c.6109A>G (p.Lys2037Glu)
c.6106A>G (p.Lys2036Glu)
n.6212A>G
n.6153A>G
n.6198A>G
 gnomAD v4
11g.77211233A>TCA381935876MYO7Ac.6133A>T (p.Lys2045Ter)
c.3934A>T
c.5986A>T (p.Lys1996Ter)
c.3559A>T (p.Lys1187Ter)
c.6019A>T (p.Lys2007Ter)
n.3669A>T
n.25+322A>T
n.1600A>T
c.6016A>T (p.Lys2006Ter)
c.6124A>T (p.Lys2042Ter)
c.6127A>T (p.Lys2043Ter)
c.6100A>T (p.Lys2034Ter)
c.6037A>T (p.Lys2013Ter)
c.5908A>T (p.Lys1970Ter)
c.5896A>T (p.Lys1966Ter)
c.5869A>T (p.Lys1957Ter)
n.6453A>T
n.6427A>T
c.6223A>T (p.Lys2075Ter)
c.6217A>T (p.Lys2073Ter)
c.6214A>T (p.Lys2072Ter)
c.6109A>T (p.Lys2037Ter)
c.6106A>T (p.Lys2036Ter)
n.6212A>T
n.6153A>T
n.6198A>T
11g.77211234A=CA1984129870MYO7Ac.6134A= (p.Lys2045=)
c.3935A=
c.5987A= (p.Lys1996=)
c.3560A= (p.Lys1187=)
c.6020A= (p.Lys2007=)
n.3670A=
n.25+323A=
n.1601A=
c.6017A= (p.Lys2006=)
c.6125A= (p.Lys2042=)
c.6128A= (p.Lys2043=)
c.6101A= (p.Lys2034=)
c.6038A= (p.Lys2013=)
c.5909A= (p.Lys1970=)
c.5897A= (p.Lys1966=)
c.5870A= (p.Lys1957=)
n.6454A=
n.6428A=
c.6224A= (p.Lys2075=)
c.6218A= (p.Lys2073=)
c.6215A= (p.Lys2072=)
c.6110A= (p.Lys2037=)
c.6107A= (p.Lys2036=)
n.6213A=
n.6154A=
n.6199A=
11g.77211234A>CCA381935877MYO7Ac.6134A>C (p.Lys2045Thr)
c.3935A>C
c.5987A>C (p.Lys1996Thr)
c.3560A>C (p.Lys1187Thr)
c.6020A>C (p.Lys2007Thr)
n.3670A>C
n.25+323A>C
n.1601A>C
c.6017A>C (p.Lys2006Thr)
c.6125A>C (p.Lys2042Thr)
c.6128A>C (p.Lys2043Thr)
c.6101A>C (p.Lys2034Thr)
c.6038A>C (p.Lys2013Thr)
c.5909A>C (p.Lys1970Thr)
c.5897A>C (p.Lys1966Thr)
c.5870A>C (p.Lys1957Thr)
n.6454A>C
n.6428A>C
c.6224A>C (p.Lys2075Thr)
c.6218A>C (p.Lys2073Thr)
c.6215A>C (p.Lys2072Thr)
c.6110A>C (p.Lys2037Thr)
c.6107A>C (p.Lys2036Thr)
n.6213A>C
n.6154A>C
n.6199A>C
11g.77211234A>GCA381935879MYO7Ac.6134A>G (p.Lys2045Arg)
c.3935A>G
c.5987A>G (p.Lys1996Arg)
c.3560A>G (p.Lys1187Arg)
c.6020A>G (p.Lys2007Arg)
n.3670A>G
n.25+323A>G
n.1601A>G
c.6017A>G (p.Lys2006Arg)
c.6125A>G (p.Lys2042Arg)
c.6128A>G (p.Lys2043Arg)
c.6101A>G (p.Lys2034Arg)
c.6038A>G (p.Lys2013Arg)
c.5909A>G (p.Lys1970Arg)
c.5897A>G (p.Lys1966Arg)
c.5870A>G (p.Lys1957Arg)
n.6454A>G
n.6428A>G
c.6224A>G (p.Lys2075Arg)
c.6218A>G (p.Lys2073Arg)
c.6215A>G (p.Lys2072Arg)
c.6110A>G (p.Lys2037Arg)
c.6107A>G (p.Lys2036Arg)
n.6213A>G
n.6154A>G
n.6199A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211234A>TCA381935878MYO7Ac.6134A>T (p.Lys2045Met)
c.3935A>T
c.5987A>T (p.Lys1996Met)
c.3560A>T (p.Lys1187Met)
c.6020A>T (p.Lys2007Met)
n.3670A>T
n.25+323A>T
n.1601A>T
c.6017A>T (p.Lys2006Met)
c.6125A>T (p.Lys2042Met)
c.6128A>T (p.Lys2043Met)
c.6101A>T (p.Lys2034Met)
c.6038A>T (p.Lys2013Met)
c.5909A>T (p.Lys1970Met)
c.5897A>T (p.Lys1966Met)
c.5870A>T (p.Lys1957Met)
n.6454A>T
n.6428A>T
c.6224A>T (p.Lys2075Met)
c.6218A>T (p.Lys2073Met)
c.6215A>T (p.Lys2072Met)
c.6110A>T (p.Lys2037Met)
c.6107A>T (p.Lys2036Met)
n.6213A>T
n.6154A>T
n.6199A>T
11g.77211235G>ACA475791967MYO7Ac.6135G>A (p.Lys2045=)
c.3936G>A
c.5988G>A (p.Lys1996=)
c.3561G>A (p.Lys1187=)
c.6021G>A (p.Lys2007=)
n.3671G>A
n.25+324G>A
n.1602G>A
c.6018G>A (p.Lys2006=)
c.6126G>A (p.Lys2042=)
c.6129G>A (p.Lys2043=)
c.6102G>A (p.Lys2034=)
c.6039G>A (p.Lys2013=)
c.5910G>A (p.Lys1970=)
c.5898G>A (p.Lys1966=)
c.5871G>A (p.Lys1957=)
n.6455G>A
n.6429G>A
c.6225G>A (p.Lys2075=)
c.6219G>A (p.Lys2073=)
c.6216G>A (p.Lys2072=)
c.6111G>A (p.Lys2037=)
c.6108G>A (p.Lys2036=)
n.6214G>A
n.6155G>A
n.6200G>A
11g.77211235G>CCA381935880MYO7Ac.6135G>C (p.Lys2045Asn)
c.3936G>C
c.5988G>C (p.Lys1996Asn)
c.3561G>C (p.Lys1187Asn)
c.6021G>C (p.Lys2007Asn)
n.3671G>C
n.25+324G>C
n.1602G>C
c.6018G>C (p.Lys2006Asn)
c.6126G>C (p.Lys2042Asn)
c.6129G>C (p.Lys2043Asn)
c.6102G>C (p.Lys2034Asn)
c.6039G>C (p.Lys2013Asn)
c.5910G>C (p.Lys1970Asn)
c.5898G>C (p.Lys1966Asn)
c.5871G>C (p.Lys1957Asn)
n.6455G>C
n.6429G>C
c.6225G>C (p.Lys2075Asn)
c.6219G>C (p.Lys2073Asn)
c.6216G>C (p.Lys2072Asn)
c.6111G>C (p.Lys2037Asn)
c.6108G>C (p.Lys2036Asn)
n.6214G>C
n.6155G>C
n.6200G>C
 ClinVar dbSNP
11g.77211235G=CA1984129871MYO7Ac.6135G= (p.Lys2045=)
c.3936G=
c.5988G= (p.Lys1996=)
c.3561G= (p.Lys1187=)
c.6021G= (p.Lys2007=)
n.3671G=
n.25+324G=
n.1602G=
c.6018G= (p.Lys2006=)
c.6126G= (p.Lys2042=)
c.6129G= (p.Lys2043=)
c.6102G= (p.Lys2034=)
c.6039G= (p.Lys2013=)
c.5910G= (p.Lys1970=)
c.5898G= (p.Lys1966=)
c.5871G= (p.Lys1957=)
n.6455G=
n.6429G=
c.6225G= (p.Lys2075=)
c.6219G= (p.Lys2073=)
c.6216G= (p.Lys2072=)
c.6111G= (p.Lys2037=)
c.6108G= (p.Lys2036=)
n.6214G=
n.6155G=
n.6200G=
11g.77211235G>TCA381935881MYO7Ac.6135G>T (p.Lys2045Asn)
c.3936G>T
c.5988G>T (p.Lys1996Asn)
c.3561G>T (p.Lys1187Asn)
c.6021G>T (p.Lys2007Asn)
n.3671G>T
n.25+324G>T
n.1602G>T
c.6018G>T (p.Lys2006Asn)
c.6126G>T (p.Lys2042Asn)
c.6129G>T (p.Lys2043Asn)
c.6102G>T (p.Lys2034Asn)
c.6039G>T (p.Lys2013Asn)
c.5910G>T (p.Lys1970Asn)
c.5898G>T (p.Lys1966Asn)
c.5871G>T (p.Lys1957Asn)
n.6455G>T
n.6429G>T
c.6225G>T (p.Lys2075Asn)
c.6219G>T (p.Lys2073Asn)
c.6216G>T (p.Lys2072Asn)
c.6111G>T (p.Lys2037Asn)
c.6108G>T (p.Lys2036Asn)
n.6214G>T
n.6155G>T
n.6200G>T
 gnomAD v4
11g.77211236T>ACA381935882MYO7Ac.6136T>A (p.Phe2046Ile)
c.3937T>A
c.5989T>A (p.Phe1997Ile)
c.3562T>A (p.Phe1188Ile)
c.6022T>A (p.Phe2008Ile)
n.3672T>A
n.25+325T>A
n.1603T>A
c.6019T>A (p.Phe2007Ile)
c.6127T>A (p.Phe2043Ile)
c.6130T>A (p.Phe2044Ile)
c.6103T>A (p.Phe2035Ile)
c.6040T>A (p.Phe2014Ile)
c.5911T>A (p.Phe1971Ile)
c.5899T>A (p.Phe1967Ile)
c.5872T>A (p.Phe1958Ile)
n.6456T>A
n.6430T>A
c.6226T>A (p.Phe2076Ile)
c.6220T>A (p.Phe2074Ile)
c.6217T>A (p.Phe2073Ile)
c.6112T>A (p.Phe2038Ile)
c.6109T>A (p.Phe2037Ile)
n.6215T>A
n.6156T>A
n.6201T>A
 gnomAD v4
11g.77211236T>CCA381935883MYO7Ac.6136T>C (p.Phe2046Leu)
c.3937T>C
c.5989T>C (p.Phe1997Leu)
c.3562T>C (p.Phe1188Leu)
c.6022T>C (p.Phe2008Leu)
n.3672T>C
n.25+325T>C
n.1603T>C
c.6019T>C (p.Phe2007Leu)
c.6127T>C (p.Phe2043Leu)
c.6130T>C (p.Phe2044Leu)
c.6103T>C (p.Phe2035Leu)
c.6040T>C (p.Phe2014Leu)
c.5911T>C (p.Phe1971Leu)
c.5899T>C (p.Phe1967Leu)
c.5872T>C (p.Phe1958Leu)
n.6456T>C
n.6430T>C
c.6226T>C (p.Phe2076Leu)
c.6220T>C (p.Phe2074Leu)
c.6217T>C (p.Phe2073Leu)
c.6112T>C (p.Phe2038Leu)
c.6109T>C (p.Phe2037Leu)
n.6215T>C
n.6156T>C
n.6201T>C
11g.77211236T>GCA381935884MYO7Ac.6136T>G (p.Phe2046Val)
c.3937T>G
c.5989T>G (p.Phe1997Val)
c.3562T>G (p.Phe1188Val)
c.6022T>G (p.Phe2008Val)
n.3672T>G
n.25+325T>G
n.1603T>G
c.6019T>G (p.Phe2007Val)
c.6127T>G (p.Phe2043Val)
c.6130T>G (p.Phe2044Val)
c.6103T>G (p.Phe2035Val)
c.6040T>G (p.Phe2014Val)
c.5911T>G (p.Phe1971Val)
c.5899T>G (p.Phe1967Val)
c.5872T>G (p.Phe1958Val)
n.6456T>G
n.6430T>G
c.6226T>G (p.Phe2076Val)
c.6220T>G (p.Phe2074Val)
c.6217T>G (p.Phe2073Val)
c.6112T>G (p.Phe2038Val)
c.6109T>G (p.Phe2037Val)
n.6215T>G
n.6156T>G
n.6201T>G
11g.77211237T>ACA381935887MYO7Ac.6137T>A (p.Phe2046Tyr)
c.3938T>A
c.5990T>A (p.Phe1997Tyr)
c.3563T>A (p.Phe1188Tyr)
c.6023T>A (p.Phe2008Tyr)
n.3673T>A
n.25+326T>A
n.1604T>A
c.6020T>A (p.Phe2007Tyr)
c.6128T>A (p.Phe2043Tyr)
c.6131T>A (p.Phe2044Tyr)
c.6104T>A (p.Phe2035Tyr)
c.6041T>A (p.Phe2014Tyr)
c.5912T>A (p.Phe1971Tyr)
c.5900T>A (p.Phe1967Tyr)
c.5873T>A (p.Phe1958Tyr)
n.6457T>A
n.6431T>A
c.6227T>A (p.Phe2076Tyr)
c.6221T>A (p.Phe2074Tyr)
c.6218T>A (p.Phe2073Tyr)
c.6113T>A (p.Phe2038Tyr)
c.6110T>A (p.Phe2037Tyr)
n.6216T>A
n.6157T>A
n.6202T>A
11g.77211237T>CCA381935886MYO7Ac.6137T>C (p.Phe2046Ser)
c.3938T>C
c.5990T>C (p.Phe1997Ser)
c.3563T>C (p.Phe1188Ser)
c.6023T>C (p.Phe2008Ser)
n.3673T>C
n.25+326T>C
n.1604T>C
c.6020T>C (p.Phe2007Ser)
c.6128T>C (p.Phe2043Ser)
c.6131T>C (p.Phe2044Ser)
c.6104T>C (p.Phe2035Ser)
c.6041T>C (p.Phe2014Ser)
c.5912T>C (p.Phe1971Ser)
c.5900T>C (p.Phe1967Ser)
c.5873T>C (p.Phe1958Ser)
n.6457T>C
n.6431T>C
c.6227T>C (p.Phe2076Ser)
c.6221T>C (p.Phe2074Ser)
c.6218T>C (p.Phe2073Ser)
c.6113T>C (p.Phe2038Ser)
c.6110T>C (p.Phe2037Ser)
n.6216T>C
n.6157T>C
n.6202T>C
11g.77211237T>GCA381935885MYO7Ac.6137T>G (p.Phe2046Cys)
c.3938T>G
c.5990T>G (p.Phe1997Cys)
c.3563T>G (p.Phe1188Cys)
c.6023T>G (p.Phe2008Cys)
n.3673T>G
n.25+326T>G
n.1604T>G
c.6020T>G (p.Phe2007Cys)
c.6128T>G (p.Phe2043Cys)
c.6131T>G (p.Phe2044Cys)
c.6104T>G (p.Phe2035Cys)
c.6041T>G (p.Phe2014Cys)
c.5912T>G (p.Phe1971Cys)
c.5900T>G (p.Phe1967Cys)
c.5873T>G (p.Phe1958Cys)
n.6457T>G
n.6431T>G
c.6227T>G (p.Phe2076Cys)
c.6221T>G (p.Phe2074Cys)
c.6218T>G (p.Phe2073Cys)
c.6113T>G (p.Phe2038Cys)
c.6110T>G (p.Phe2037Cys)
n.6216T>G
n.6157T>G
n.6202T>G
11g.77211238C>ACA381935889MYO7Ac.6138C>A (p.Phe2046Leu)
c.3939C>A
c.5991C>A (p.Phe1997Leu)
c.3564C>A (p.Phe1188Leu)
c.6024C>A (p.Phe2008Leu)
n.3674C>A
n.25+327C>A
n.1605C>A
c.6021C>A (p.Phe2007Leu)
c.6129C>A (p.Phe2043Leu)
c.6132C>A (p.Phe2044Leu)
c.6105C>A (p.Phe2035Leu)
c.6042C>A (p.Phe2014Leu)
c.5913C>A (p.Phe1971Leu)
c.5901C>A (p.Phe1967Leu)
c.5874C>A (p.Phe1958Leu)
n.6458C>A
n.6432C>A
c.6228C>A (p.Phe2076Leu)
c.6222C>A (p.Phe2074Leu)
c.6219C>A (p.Phe2073Leu)
c.6114C>A (p.Phe2038Leu)
c.6111C>A (p.Phe2037Leu)
n.6217C>A
n.6158C>A
n.6203C>A
 gnomAD v4
11g.77211238C=CA1984129872MYO7Ac.6138C= (p.Phe2046=)
c.3939C=
c.5991C= (p.Phe1997=)
c.3564C= (p.Phe1188=)
c.6024C= (p.Phe2008=)
n.3674C=
n.25+327C=
n.1605C=
c.6021C= (p.Phe2007=)
c.6129C= (p.Phe2043=)
c.6132C= (p.Phe2044=)
c.6105C= (p.Phe2035=)
c.6042C= (p.Phe2014=)
c.5913C= (p.Phe1971=)
c.5901C= (p.Phe1967=)
c.5874C= (p.Phe1958=)
n.6458C=
n.6432C=
c.6228C= (p.Phe2076=)
c.6222C= (p.Phe2074=)
c.6219C= (p.Phe2073=)
c.6114C= (p.Phe2038=)
c.6111C= (p.Phe2037=)
n.6217C=
n.6158C=
n.6203C=
11g.77211238C>GCA381935888MYO7Ac.6138C>G (p.Phe2046Leu)
c.3939C>G
c.5991C>G (p.Phe1997Leu)
c.3564C>G (p.Phe1188Leu)
c.6024C>G (p.Phe2008Leu)
n.3674C>G
n.25+327C>G
n.1605C>G
c.6021C>G (p.Phe2007Leu)
c.6129C>G (p.Phe2043Leu)
c.6132C>G (p.Phe2044Leu)
c.6105C>G (p.Phe2035Leu)
c.6042C>G (p.Phe2014Leu)
c.5913C>G (p.Phe1971Leu)
c.5901C>G (p.Phe1967Leu)
c.5874C>G (p.Phe1958Leu)
n.6458C>G
n.6432C>G
c.6228C>G (p.Phe2076Leu)
c.6222C>G (p.Phe2074Leu)
c.6219C>G (p.Phe2073Leu)
c.6114C>G (p.Phe2038Leu)
c.6111C>G (p.Phe2037Leu)
n.6217C>G
n.6158C>G
n.6203C>G
11g.77211238C>TCA475791970MYO7Ac.6138C>T (p.Phe2046=)
c.3939C>T
c.5991C>T (p.Phe1997=)
c.3564C>T (p.Phe1188=)
c.6024C>T (p.Phe2008=)
n.3674C>T
n.25+327C>T
n.1605C>T
c.6021C>T (p.Phe2007=)
c.6129C>T (p.Phe2043=)
c.6132C>T (p.Phe2044=)
c.6105C>T (p.Phe2035=)
c.6042C>T (p.Phe2014=)
c.5913C>T (p.Phe1971=)
c.5901C>T (p.Phe1967=)
c.5874C>T (p.Phe1958=)
n.6458C>T
n.6432C>T
c.6228C>T (p.Phe2076=)
c.6222C>T (p.Phe2074=)
c.6219C>T (p.Phe2073=)
c.6114C>T (p.Phe2038=)
c.6111C>T (p.Phe2037=)
n.6217C>T
n.6158C>T
n.6203C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.77211239G>ACA381935891MYO7Ac.6139G>A (p.Glu2047Lys)
c.3940G>A
c.5992G>A (p.Glu1998Lys)
c.3565G>A (p.Glu1189Lys)
c.6025G>A (p.Glu2009Lys)
n.3675G>A
n.25+328G>A
n.1606G>A
c.6022G>A (p.Glu2008Lys)
c.6130G>A (p.Glu2044Lys)
c.6133G>A (p.Glu2045Lys)
c.6106G>A (p.Glu2036Lys)
c.6043G>A (p.Glu2015Lys)
c.5914G>A (p.Glu1972Lys)
c.5902G>A (p.Glu1968Lys)
c.5875G>A (p.Glu1959Lys)
n.6459G>A
n.6433G>A
c.6229G>A (p.Glu2077Lys)
c.6223G>A (p.Glu2075Lys)
c.6220G>A (p.Glu2074Lys)
c.6115G>A (p.Glu2039Lys)
c.6112G>A (p.Glu2038Lys)
n.6218G>A
n.6159G>A
n.6204G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211239G>CCA381935890MYO7Ac.6139G>C (p.Glu2047Gln)
c.3940G>C
c.5992G>C (p.Glu1998Gln)
c.3565G>C (p.Glu1189Gln)
c.6025G>C (p.Glu2009Gln)
n.3675G>C
n.25+328G>C
n.1606G>C
c.6022G>C (p.Glu2008Gln)
c.6130G>C (p.Glu2044Gln)
c.6133G>C (p.Glu2045Gln)
c.6106G>C (p.Glu2036Gln)
c.6043G>C (p.Glu2015Gln)
c.5914G>C (p.Glu1972Gln)
c.5902G>C (p.Glu1968Gln)
c.5875G>C (p.Glu1959Gln)
n.6459G>C
n.6433G>C
c.6229G>C (p.Glu2077Gln)
c.6223G>C (p.Glu2075Gln)
c.6220G>C (p.Glu2074Gln)
c.6115G>C (p.Glu2039Gln)
c.6112G>C (p.Glu2038Gln)
n.6218G>C
n.6159G>C
n.6204G>C
 gnomAD v3 gnomAD v4
11g.77211239G=CA1984129873MYO7Ac.6139G= (p.Glu2047=)
c.3940G=
c.5992G= (p.Glu1998=)
c.3565G= (p.Glu1189=)
c.6025G= (p.Glu2009=)
n.3675G=
n.25+328G=
n.1606G=
c.6022G= (p.Glu2008=)
c.6130G= (p.Glu2044=)
c.6133G= (p.Glu2045=)
c.6106G= (p.Glu2036=)
c.6043G= (p.Glu2015=)
c.5914G= (p.Glu1972=)
c.5902G= (p.Glu1968=)
c.5875G= (p.Glu1959=)
n.6459G=
n.6433G=
c.6229G= (p.Glu2077=)
c.6223G= (p.Glu2075=)
c.6220G= (p.Glu2074=)
c.6115G= (p.Glu2039=)
c.6112G= (p.Glu2038=)
n.6218G=
n.6159G=
n.6204G=
11g.77211239G>TCA381935892MYO7Ac.6139G>T (p.Glu2047Ter)
c.3940G>T
c.5992G>T (p.Glu1998Ter)
c.3565G>T (p.Glu1189Ter)
c.6025G>T (p.Glu2009Ter)
n.3675G>T
n.25+328G>T
n.1606G>T
c.6022G>T (p.Glu2008Ter)
c.6130G>T (p.Glu2044Ter)
c.6133G>T (p.Glu2045Ter)
c.6106G>T (p.Glu2036Ter)
c.6043G>T (p.Glu2015Ter)
c.5914G>T (p.Glu1972Ter)
c.5902G>T (p.Glu1968Ter)
c.5875G>T (p.Glu1959Ter)
n.6459G>T
n.6433G>T
c.6229G>T (p.Glu2077Ter)
c.6223G>T (p.Glu2075Ter)
c.6220G>T (p.Glu2074Ter)
c.6115G>T (p.Glu2039Ter)
c.6112G>T (p.Glu2038Ter)
n.6218G>T
n.6159G>T
n.6204G>T
 gnomAD v4
11g.77211244_77211246delCA2615262649MYO7Ac.6144_6146del (p.Glu2048del)
c.3945_3947del
c.5997_5999del (p.Glu1999del)
c.3570_3572del (p.Glu1190del)
c.6030_6032del (p.Glu2010del)
n.3680_3682del
n.25+333_25+335del
n.1611_1613del
c.6027_6029del (p.Glu2009del)
c.6135_6137del (p.Glu2045del)
c.6138_6140del (p.Glu2046del)
c.6111_6113del (p.Glu2037del)
c.6048_6050del (p.Glu2016del)
c.5919_5921del (p.Glu1973del)
c.5907_5909del (p.Glu1969del)
c.5880_5882del (p.Glu1960del)
n.6464_6466del
n.6438_6440del
c.6234_6236del (p.Glu2078del)
c.6228_6230del (p.Glu2076del)
c.6225_6227del (p.Glu2075del)
c.6120_6122del (p.Glu2040del)
c.6117_6119del (p.Glu2039del)
n.6223_6225del
n.6164_6166del
n.6209_6211del
 gnomAD v4
11g.77211240A>CCA381935893MYO7Ac.6140A>C (p.Glu2047Ala)
c.3941A>C
c.5993A>C (p.Glu1998Ala)
c.3566A>C (p.Glu1189Ala)
c.6026A>C (p.Glu2009Ala)
n.3676A>C
n.25+329A>C
n.1607A>C
c.6023A>C (p.Glu2008Ala)
c.6131A>C (p.Glu2044Ala)
c.6134A>C (p.Glu2045Ala)
c.6107A>C (p.Glu2036Ala)
c.6044A>C (p.Glu2015Ala)
c.5915A>C (p.Glu1972Ala)
c.5903A>C (p.Glu1968Ala)
c.5876A>C (p.Glu1959Ala)
n.6460A>C
n.6434A>C
c.6230A>C (p.Glu2077Ala)
c.6224A>C (p.Glu2075Ala)
c.6221A>C (p.Glu2074Ala)
c.6116A>C (p.Glu2039Ala)
c.6113A>C (p.Glu2038Ala)
n.6219A>C
n.6160A>C
n.6205A>C
 gnomAD v4
11g.77211240A>GCA381935895MYO7Ac.6140A>G (p.Glu2047Gly)
c.3941A>G
c.5993A>G (p.Glu1998Gly)
c.3566A>G (p.Glu1189Gly)
c.6026A>G (p.Glu2009Gly)
n.3676A>G
n.25+329A>G
n.1607A>G
c.6023A>G (p.Glu2008Gly)
c.6131A>G (p.Glu2044Gly)
c.6134A>G (p.Glu2045Gly)
c.6107A>G (p.Glu2036Gly)
c.6044A>G (p.Glu2015Gly)
c.5915A>G (p.Glu1972Gly)
c.5903A>G (p.Glu1968Gly)
c.5876A>G (p.Glu1959Gly)
n.6460A>G
n.6434A>G
c.6230A>G (p.Glu2077Gly)
c.6224A>G (p.Glu2075Gly)
c.6221A>G (p.Glu2074Gly)
c.6116A>G (p.Glu2039Gly)
c.6113A>G (p.Glu2038Gly)
n.6219A>G
n.6160A>G
n.6205A>G
11g.77211240A>TCA381935894MYO7Ac.6140A>T (p.Glu2047Val)
c.3941A>T
c.5993A>T (p.Glu1998Val)
c.3566A>T (p.Glu1189Val)
c.6026A>T (p.Glu2009Val)
n.3676A>T
n.25+329A>T
n.1607A>T
c.6023A>T (p.Glu2008Val)
c.6131A>T (p.Glu2044Val)
c.6134A>T (p.Glu2045Val)
c.6107A>T (p.Glu2036Val)
c.6044A>T (p.Glu2015Val)
c.5915A>T (p.Glu1972Val)
c.5903A>T (p.Glu1968Val)
c.5876A>T (p.Glu1959Val)
n.6460A>T
n.6434A>T
c.6230A>T (p.Glu2077Val)
c.6224A>T (p.Glu2075Val)
c.6221A>T (p.Glu2074Val)
c.6116A>T (p.Glu2039Val)
c.6113A>T (p.Glu2038Val)
n.6219A>T
n.6160A>T
n.6205A>T
11g.77211241G>ACA475791973MYO7Ac.6141G>A (p.Glu2047=)
c.3942G>A
c.5994G>A (p.Glu1998=)
c.3567G>A (p.Glu1189=)
c.6027G>A (p.Glu2009=)
n.3677G>A
n.25+330G>A
n.1608G>A
c.6024G>A (p.Glu2008=)
c.6132G>A (p.Glu2044=)
c.6135G>A (p.Glu2045=)
c.6108G>A (p.Glu2036=)
c.6045G>A (p.Glu2015=)
c.5916G>A (p.Glu1972=)
c.5904G>A (p.Glu1968=)
c.5877G>A (p.Glu1959=)
n.6461G>A
n.6435G>A
c.6231G>A (p.Glu2077=)
c.6225G>A (p.Glu2075=)
c.6222G>A (p.Glu2074=)
c.6117G>A (p.Glu2039=)
c.6114G>A (p.Glu2038=)
n.6220G>A
n.6161G>A
n.6206G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211241G>CCA381935896MYO7Ac.6141G>C (p.Glu2047Asp)
c.3942G>C
c.5994G>C (p.Glu1998Asp)
c.3567G>C (p.Glu1189Asp)
c.6027G>C (p.Glu2009Asp)
n.3677G>C
n.25+330G>C
n.1608G>C
c.6024G>C (p.Glu2008Asp)
c.6132G>C (p.Glu2044Asp)
c.6135G>C (p.Glu2045Asp)
c.6108G>C (p.Glu2036Asp)
c.6045G>C (p.Glu2015Asp)
c.5916G>C (p.Glu1972Asp)
c.5904G>C (p.Glu1968Asp)
c.5877G>C (p.Glu1959Asp)
n.6461G>C
n.6435G>C
c.6231G>C (p.Glu2077Asp)
c.6225G>C (p.Glu2075Asp)
c.6222G>C (p.Glu2074Asp)
c.6117G>C (p.Glu2039Asp)
c.6114G>C (p.Glu2038Asp)
n.6220G>C
n.6161G>C
n.6206G>C
11g.77211241G=CA1984129874MYO7Ac.6141G= (p.Glu2047=)
c.3942G=
c.5994G= (p.Glu1998=)
c.3567G= (p.Glu1189=)
c.6027G= (p.Glu2009=)
n.3677G=
n.25+330G=
n.1608G=
c.6024G= (p.Glu2008=)
c.6132G= (p.Glu2044=)
c.6135G= (p.Glu2045=)
c.6108G= (p.Glu2036=)
c.6045G= (p.Glu2015=)
c.5916G= (p.Glu1972=)
c.5904G= (p.Glu1968=)
c.5877G= (p.Glu1959=)
n.6461G=
n.6435G=
c.6231G= (p.Glu2077=)
c.6225G= (p.Glu2075=)
c.6222G= (p.Glu2074=)
c.6117G= (p.Glu2039=)
c.6114G= (p.Glu2038=)
n.6220G=
n.6161G=
n.6206G=
11g.77211241G>TCA381935897MYO7Ac.6141G>T (p.Glu2047Asp)
c.3942G>T
c.5994G>T (p.Glu1998Asp)
c.3567G>T (p.Glu1189Asp)
c.6027G>T (p.Glu2009Asp)
n.3677G>T
n.25+330G>T
n.1608G>T
c.6024G>T (p.Glu2008Asp)
c.6132G>T (p.Glu2044Asp)
c.6135G>T (p.Glu2045Asp)
c.6108G>T (p.Glu2036Asp)
c.6045G>T (p.Glu2015Asp)
c.5916G>T (p.Glu1972Asp)
c.5904G>T (p.Glu1968Asp)
c.5877G>T (p.Glu1959Asp)
n.6461G>T
n.6435G>T
c.6231G>T (p.Glu2077Asp)
c.6225G>T (p.Glu2075Asp)
c.6222G>T (p.Glu2074Asp)
c.6117G>T (p.Glu2039Asp)
c.6114G>T (p.Glu2038Asp)
n.6220G>T
n.6161G>T
n.6206G>T
 gnomAD v4
11g.77211242G>ACA381935898MYO7Ac.6142G>A (p.Glu2048Lys)
c.3943G>A
c.5995G>A (p.Glu1999Lys)
c.3568G>A (p.Glu1190Lys)
c.6028G>A (p.Glu2010Lys)
n.3678G>A
n.25+331G>A
n.1609G>A
c.6025G>A (p.Glu2009Lys)
c.6133G>A (p.Glu2045Lys)
c.6136G>A (p.Glu2046Lys)
c.6109G>A (p.Glu2037Lys)
c.6046G>A (p.Glu2016Lys)
c.5917G>A (p.Glu1973Lys)
c.5905G>A (p.Glu1969Lys)
c.5878G>A (p.Glu1960Lys)
n.6462G>A
n.6436G>A
c.6232G>A (p.Glu2078Lys)
c.6226G>A (p.Glu2076Lys)
c.6223G>A (p.Glu2075Lys)
c.6118G>A (p.Glu2040Lys)
c.6115G>A (p.Glu2039Lys)
n.6221G>A
n.6162G>A
n.6207G>A
11g.77211242G>CCA381935899MYO7Ac.6142G>C (p.Glu2048Gln)
c.3943G>C
c.5995G>C (p.Glu1999Gln)
c.3568G>C (p.Glu1190Gln)
c.6028G>C (p.Glu2010Gln)
n.3678G>C
n.25+331G>C
n.1609G>C
c.6025G>C (p.Glu2009Gln)
c.6133G>C (p.Glu2045Gln)
c.6136G>C (p.Glu2046Gln)
c.6109G>C (p.Glu2037Gln)
c.6046G>C (p.Glu2016Gln)
c.5917G>C (p.Glu1973Gln)
c.5905G>C (p.Glu1969Gln)
c.5878G>C (p.Glu1960Gln)
n.6462G>C
n.6436G>C
c.6232G>C (p.Glu2078Gln)
c.6226G>C (p.Glu2076Gln)
c.6223G>C (p.Glu2075Gln)
c.6118G>C (p.Glu2040Gln)
c.6115G>C (p.Glu2039Gln)
n.6221G>C
n.6162G>C
n.6207G>C
11g.77211242G>TCA381935900MYO7Ac.6142G>T (p.Glu2048Ter)
c.3943G>T
c.5995G>T (p.Glu1999Ter)
c.3568G>T (p.Glu1190Ter)
c.6028G>T (p.Glu2010Ter)
n.3678G>T
n.25+331G>T
n.1609G>T
c.6025G>T (p.Glu2009Ter)
c.6133G>T (p.Glu2045Ter)
c.6136G>T (p.Glu2046Ter)
c.6109G>T (p.Glu2037Ter)
c.6046G>T (p.Glu2016Ter)
c.5917G>T (p.Glu1973Ter)
c.5905G>T (p.Glu1969Ter)
c.5878G>T (p.Glu1960Ter)
n.6462G>T
n.6436G>T
c.6232G>T (p.Glu2078Ter)
c.6226G>T (p.Glu2076Ter)
c.6223G>T (p.Glu2075Ter)
c.6118G>T (p.Glu2040Ter)
c.6115G>T (p.Glu2039Ter)
n.6221G>T
n.6162G>T
n.6207G>T
 gnomAD v4
11g.77211243A>CCA381935901MYO7Ac.6143A>C (p.Glu2048Ala)
c.3944A>C
c.5996A>C (p.Glu1999Ala)
c.3569A>C (p.Glu1190Ala)
c.6029A>C (p.Glu2010Ala)
n.3679A>C
n.25+332A>C
n.1610A>C
c.6026A>C (p.Glu2009Ala)
c.6134A>C (p.Glu2045Ala)
c.6137A>C (p.Glu2046Ala)
c.6110A>C (p.Glu2037Ala)
c.6047A>C (p.Glu2016Ala)
c.5918A>C (p.Glu1973Ala)
c.5906A>C (p.Glu1969Ala)
c.5879A>C (p.Glu1960Ala)
n.6463A>C
n.6437A>C
c.6233A>C (p.Glu2078Ala)
c.6227A>C (p.Glu2076Ala)
c.6224A>C (p.Glu2075Ala)
c.6119A>C (p.Glu2040Ala)
c.6116A>C (p.Glu2039Ala)
n.6222A>C
n.6163A>C
n.6208A>C
11g.77211243A>GCA381935902MYO7Ac.6143A>G (p.Glu2048Gly)
c.3944A>G
c.5996A>G (p.Glu1999Gly)
c.3569A>G (p.Glu1190Gly)
c.6029A>G (p.Glu2010Gly)
n.3679A>G
n.25+332A>G
n.1610A>G
c.6026A>G (p.Glu2009Gly)
c.6134A>G (p.Glu2045Gly)
c.6137A>G (p.Glu2046Gly)
c.6110A>G (p.Glu2037Gly)
c.6047A>G (p.Glu2016Gly)
c.5918A>G (p.Glu1973Gly)
c.5906A>G (p.Glu1969Gly)
c.5879A>G (p.Glu1960Gly)
n.6463A>G
n.6437A>G
c.6233A>G (p.Glu2078Gly)
c.6227A>G (p.Glu2076Gly)
c.6224A>G (p.Glu2075Gly)
c.6119A>G (p.Glu2040Gly)
c.6116A>G (p.Glu2039Gly)
n.6222A>G
n.6163A>G
n.6208A>G
 gnomAD v4
11g.77211243A>TCA381935904MYO7Ac.6143A>T (p.Glu2048Val)
c.3944A>T
c.5996A>T (p.Glu1999Val)
c.3569A>T (p.Glu1190Val)
c.6029A>T (p.Glu2010Val)
n.3679A>T
n.25+332A>T
n.1610A>T
c.6026A>T (p.Glu2009Val)
c.6134A>T (p.Glu2045Val)
c.6137A>T (p.Glu2046Val)
c.6110A>T (p.Glu2037Val)
c.6047A>T (p.Glu2016Val)
c.5918A>T (p.Glu1973Val)
c.5906A>T (p.Glu1969Val)
c.5879A>T (p.Glu1960Val)
n.6463A>T
n.6437A>T
c.6233A>T (p.Glu2078Val)
c.6227A>T (p.Glu2076Val)
c.6224A>T (p.Glu2075Val)
c.6119A>T (p.Glu2040Val)
c.6116A>T (p.Glu2039Val)
n.6222A>T
n.6163A>T
n.6208A>T
11g.77211244G>ACA475791974MYO7Ac.6144G>A (p.Glu2048=)
c.3945G>A
c.5997G>A (p.Glu1999=)
c.3570G>A (p.Glu1190=)
c.6030G>A (p.Glu2010=)
n.3680G>A
n.25+333G>A
n.1611G>A
c.6027G>A (p.Glu2009=)
c.6135G>A (p.Glu2045=)
c.6138G>A (p.Glu2046=)
c.6111G>A (p.Glu2037=)
c.6048G>A (p.Glu2016=)
c.5919G>A (p.Glu1973=)
c.5907G>A (p.Glu1969=)
c.5880G>A (p.Glu1960=)
n.6464G>A
n.6438G>A
c.6234G>A (p.Glu2078=)
c.6228G>A (p.Glu2076=)
c.6225G>A (p.Glu2075=)
c.6120G>A (p.Glu2040=)
c.6117G>A (p.Glu2039=)
n.6223G>A
n.6164G>A
n.6209G>A
 gnomAD v4
11g.77211244G>CCA381935907MYO7Ac.6144G>C (p.Glu2048Asp)
c.3945G>C
c.5997G>C (p.Glu1999Asp)
c.3570G>C (p.Glu1190Asp)
c.6030G>C (p.Glu2010Asp)
n.3680G>C
n.25+333G>C
n.1611G>C
c.6027G>C (p.Glu2009Asp)
c.6135G>C (p.Glu2045Asp)
c.6138G>C (p.Glu2046Asp)
c.6111G>C (p.Glu2037Asp)
c.6048G>C (p.Glu2016Asp)
c.5919G>C (p.Glu1973Asp)
c.5907G>C (p.Glu1969Asp)
c.5880G>C (p.Glu1960Asp)
n.6464G>C
n.6438G>C
c.6234G>C (p.Glu2078Asp)
c.6228G>C (p.Glu2076Asp)
c.6225G>C (p.Glu2075Asp)
c.6120G>C (p.Glu2040Asp)
c.6117G>C (p.Glu2039Asp)
n.6223G>C
n.6164G>C
n.6209G>C
 dbSNP gnomAD v3 gnomAD v4
11g.77211244G=CA1984129875MYO7Ac.6144G= (p.Glu2048=)
c.3945G=
c.5997G= (p.Glu1999=)
c.3570G= (p.Glu1190=)
c.6030G= (p.Glu2010=)
n.3680G=
n.25+333G=
n.1611G=
c.6027G= (p.Glu2009=)
c.6135G= (p.Glu2045=)
c.6138G= (p.Glu2046=)
c.6111G= (p.Glu2037=)
c.6048G= (p.Glu2016=)
c.5919G= (p.Glu1973=)
c.5907G= (p.Glu1969=)
c.5880G= (p.Glu1960=)
n.6464G=
n.6438G=
c.6234G= (p.Glu2078=)
c.6228G= (p.Glu2076=)
c.6225G= (p.Glu2075=)
c.6120G= (p.Glu2040=)
c.6117G= (p.Glu2039=)
n.6223G=
n.6164G=
n.6209G=
11g.77211244G>TCA381935908MYO7Ac.6144G>T (p.Glu2048Asp)
c.3945G>T
c.5997G>T (p.Glu1999Asp)
c.3570G>T (p.Glu1190Asp)
c.6030G>T (p.Glu2010Asp)
n.3680G>T
n.25+333G>T
n.1611G>T
c.6027G>T (p.Glu2009Asp)
c.6135G>T (p.Glu2045Asp)
c.6138G>T (p.Glu2046Asp)
c.6111G>T (p.Glu2037Asp)
c.6048G>T (p.Glu2016Asp)
c.5919G>T (p.Glu1973Asp)
c.5907G>T (p.Glu1969Asp)
c.5880G>T (p.Glu1960Asp)
n.6464G>T
n.6438G>T
c.6234G>T (p.Glu2078Asp)
c.6228G>T (p.Glu2076Asp)
c.6225G>T (p.Glu2075Asp)
c.6120G>T (p.Glu2040Asp)
c.6117G>T (p.Glu2039Asp)
n.6223G>T
n.6164G>T
n.6209G>T
11g.77211245G>ACA381935915MYO7Ac.6145G>A (p.Asp2049Asn)
c.3946G>A
c.5998G>A (p.Asp2000Asn)
c.3571G>A (p.Asp1191Asn)
c.6031G>A (p.Asp2011Asn)
n.3681G>A
n.25+334G>A
n.1612G>A
c.6028G>A (p.Asp2010Asn)
c.6136G>A (p.Asp2046Asn)
c.6139G>A (p.Asp2047Asn)
c.6112G>A (p.Asp2038Asn)
c.6049G>A (p.Asp2017Asn)
c.5920G>A (p.Asp1974Asn)
c.5908G>A (p.Asp1970Asn)
c.5881G>A (p.Asp1961Asn)
n.6465G>A
n.6439G>A
c.6235G>A (p.Asp2079Asn)
c.6229G>A (p.Asp2077Asn)
c.6226G>A (p.Asp2076Asn)
c.6121G>A (p.Asp2041Asn)
c.6118G>A (p.Asp2040Asn)
n.6224G>A
n.6165G>A
n.6210G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211245G>CCA381935913MYO7Ac.6145G>C (p.Asp2049His)
c.3946G>C
c.5998G>C (p.Asp2000His)
c.3571G>C (p.Asp1191His)
c.6031G>C (p.Asp2011His)
n.3681G>C
n.25+334G>C
n.1612G>C
c.6028G>C (p.Asp2010His)
c.6136G>C (p.Asp2046His)
c.6139G>C (p.Asp2047His)
c.6112G>C (p.Asp2038His)
c.6049G>C (p.Asp2017His)
c.5920G>C (p.Asp1974His)
c.5908G>C (p.Asp1970His)
c.5881G>C (p.Asp1961His)
n.6465G>C
n.6439G>C
c.6235G>C (p.Asp2079His)
c.6229G>C (p.Asp2077His)
c.6226G>C (p.Asp2076His)
c.6121G>C (p.Asp2041His)
c.6118G>C (p.Asp2040His)
n.6224G>C
n.6165G>C
n.6210G>C
11g.77211245G=CA1984129876MYO7Ac.6145G= (p.Asp2049=)
c.3946G=
c.5998G= (p.Asp2000=)
c.3571G= (p.Asp1191=)
c.6031G= (p.Asp2011=)
n.3681G=
n.25+334G=
n.1612G=
c.6028G= (p.Asp2010=)
c.6136G= (p.Asp2046=)
c.6139G= (p.Asp2047=)
c.6112G= (p.Asp2038=)
c.6049G= (p.Asp2017=)
c.5920G= (p.Asp1974=)
c.5908G= (p.Asp1970=)
c.5881G= (p.Asp1961=)
n.6465G=
n.6439G=
c.6235G= (p.Asp2079=)
c.6229G= (p.Asp2077=)
c.6226G= (p.Asp2076=)
c.6121G= (p.Asp2041=)
c.6118G= (p.Asp2040=)
n.6224G=
n.6165G=
n.6210G=
11g.77211245G>TCA381935911MYO7Ac.6145G>T (p.Asp2049Tyr)
c.3946G>T
c.5998G>T (p.Asp2000Tyr)
c.3571G>T (p.Asp1191Tyr)
c.6031G>T (p.Asp2011Tyr)
n.3681G>T
n.25+334G>T
n.1612G>T
c.6028G>T (p.Asp2010Tyr)
c.6136G>T (p.Asp2046Tyr)
c.6139G>T (p.Asp2047Tyr)
c.6112G>T (p.Asp2038Tyr)
c.6049G>T (p.Asp2017Tyr)
c.5920G>T (p.Asp1974Tyr)
c.5908G>T (p.Asp1970Tyr)
c.5881G>T (p.Asp1961Tyr)
n.6465G>T
n.6439G>T
c.6235G>T (p.Asp2079Tyr)
c.6229G>T (p.Asp2077Tyr)
c.6226G>T (p.Asp2076Tyr)
c.6121G>T (p.Asp2041Tyr)
c.6118G>T (p.Asp2040Tyr)
n.6224G>T
n.6165G>T
n.6210G>T
 dbSNP gnomAD v4
11g.77211246A=CA1984129877MYO7Ac.6146A= (p.Asp2049=)
c.3947A=
c.5999A= (p.Asp2000=)
c.3572A= (p.Asp1191=)
c.6032A= (p.Asp2011=)
n.3682A=
n.25+335A=
n.1613A=
c.6029A= (p.Asp2010=)
c.6137A= (p.Asp2046=)
c.6140A= (p.Asp2047=)
c.6113A= (p.Asp2038=)
c.6050A= (p.Asp2017=)
c.5921A= (p.Asp1974=)
c.5909A= (p.Asp1970=)
c.5882A= (p.Asp1961=)
n.6466A=
n.6440A=
c.6236A= (p.Asp2079=)
c.6230A= (p.Asp2077=)
c.6227A= (p.Asp2076=)
c.6122A= (p.Asp2041=)
c.6119A= (p.Asp2040=)
n.6225A=
n.6166A=
n.6211A=
11g.77211246A>CCA6198941MYO7Ac.6146A>C (p.Asp2049Ala)
c.3947A>C
c.5999A>C (p.Asp2000Ala)
c.3572A>C (p.Asp1191Ala)
c.6032A>C (p.Asp2011Ala)
n.3682A>C
n.25+335A>C
n.1613A>C
c.6029A>C (p.Asp2010Ala)
c.6137A>C (p.Asp2046Ala)
c.6140A>C (p.Asp2047Ala)
c.6113A>C (p.Asp2038Ala)
c.6050A>C (p.Asp2017Ala)
c.5921A>C (p.Asp1974Ala)
c.5909A>C (p.Asp1970Ala)
c.5882A>C (p.Asp1961Ala)
n.6466A>C
n.6440A>C
c.6236A>C (p.Asp2079Ala)
c.6230A>C (p.Asp2077Ala)
c.6227A>C (p.Asp2076Ala)
c.6122A>C (p.Asp2041Ala)
c.6119A>C (p.Asp2040Ala)
n.6225A>C
n.6166A>C
n.6211A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211246A>GCA381935918MYO7Ac.6146A>G (p.Asp2049Gly)
c.3947A>G
c.5999A>G (p.Asp2000Gly)
c.3572A>G (p.Asp1191Gly)
c.6032A>G (p.Asp2011Gly)
n.3682A>G
n.25+335A>G
n.1613A>G
c.6029A>G (p.Asp2010Gly)
c.6137A>G (p.Asp2046Gly)
c.6140A>G (p.Asp2047Gly)
c.6113A>G (p.Asp2038Gly)
c.6050A>G (p.Asp2017Gly)
c.5921A>G (p.Asp1974Gly)
c.5909A>G (p.Asp1970Gly)
c.5882A>G (p.Asp1961Gly)
n.6466A>G
n.6440A>G
c.6236A>G (p.Asp2079Gly)
c.6230A>G (p.Asp2077Gly)
c.6227A>G (p.Asp2076Gly)
c.6122A>G (p.Asp2041Gly)
c.6119A>G (p.Asp2040Gly)
n.6225A>G
n.6166A>G
n.6211A>G
11g.77211246A>TCA381935920MYO7Ac.6146A>T (p.Asp2049Val)
c.3947A>T
c.5999A>T (p.Asp2000Val)
c.3572A>T (p.Asp1191Val)
c.6032A>T (p.Asp2011Val)
n.3682A>T
n.25+335A>T
n.1613A>T
c.6029A>T (p.Asp2010Val)
c.6137A>T (p.Asp2046Val)
c.6140A>T (p.Asp2047Val)
c.6113A>T (p.Asp2038Val)
c.6050A>T (p.Asp2017Val)
c.5921A>T (p.Asp1974Val)
c.5909A>T (p.Asp1970Val)
c.5882A>T (p.Asp1961Val)
n.6466A>T
n.6440A>T
c.6236A>T (p.Asp2079Val)
c.6230A>T (p.Asp2077Val)
c.6227A>T (p.Asp2076Val)
c.6122A>T (p.Asp2041Val)
c.6119A>T (p.Asp2040Val)
n.6225A>T
n.6166A>T
n.6211A>T
11g.77211247C>ACA381935922MYO7Ac.6147C>A (p.Asp2049Glu)
c.3948C>A
c.6000C>A (p.Asp2000Glu)
c.3573C>A (p.Asp1191Glu)
c.6033C>A (p.Asp2011Glu)
n.3683C>A
n.25+336C>A
n.1614C>A
c.6030C>A (p.Asp2010Glu)
c.6138C>A (p.Asp2046Glu)
c.6141C>A (p.Asp2047Glu)
c.6114C>A (p.Asp2038Glu)
c.6051C>A (p.Asp2017Glu)
c.5922C>A (p.Asp1974Glu)
c.5910C>A (p.Asp1970Glu)
c.5883C>A (p.Asp1961Glu)
n.6467C>A
n.6441C>A
c.6237C>A (p.Asp2079Glu)
c.6231C>A (p.Asp2077Glu)
c.6228C>A (p.Asp2076Glu)
c.6123C>A (p.Asp2041Glu)
c.6120C>A (p.Asp2040Glu)
n.6226C>A
n.6167C>A
n.6212C>A
 gnomAD v4
11g.77211247C>GCA381935925MYO7Ac.6147C>G (p.Asp2049Glu)
c.3948C>G
c.6000C>G (p.Asp2000Glu)
c.3573C>G (p.Asp1191Glu)
c.6033C>G (p.Asp2011Glu)
n.3683C>G
n.25+336C>G
n.1614C>G
c.6030C>G (p.Asp2010Glu)
c.6138C>G (p.Asp2046Glu)
c.6141C>G (p.Asp2047Glu)
c.6114C>G (p.Asp2038Glu)
c.6051C>G (p.Asp2017Glu)
c.5922C>G (p.Asp1974Glu)
c.5910C>G (p.Asp1970Glu)
c.5883C>G (p.Asp1961Glu)
n.6467C>G
n.6441C>G
c.6237C>G (p.Asp2079Glu)
c.6231C>G (p.Asp2077Glu)
c.6228C>G (p.Asp2076Glu)
c.6123C>G (p.Asp2041Glu)
c.6120C>G (p.Asp2040Glu)
n.6226C>G
n.6167C>G
n.6212C>G
11g.77211247C>TCA475791975MYO7Ac.6147C>T (p.Asp2049=)
c.3948C>T
c.6000C>T (p.Asp2000=)
c.3573C>T (p.Asp1191=)
c.6033C>T (p.Asp2011=)
n.3683C>T
n.25+336C>T
n.1614C>T
c.6030C>T (p.Asp2010=)
c.6138C>T (p.Asp2046=)
c.6141C>T (p.Asp2047=)
c.6114C>T (p.Asp2038=)
c.6051C>T (p.Asp2017=)
c.5922C>T (p.Asp1974=)
c.5910C>T (p.Asp1970=)
c.5883C>T (p.Asp1961=)
n.6467C>T
n.6441C>T
c.6237C>T (p.Asp2079=)
c.6231C>T (p.Asp2077=)
c.6228C>T (p.Asp2076=)
c.6123C>T (p.Asp2041=)
c.6120C>T (p.Asp2040=)
n.6226C>T
n.6167C>T
n.6212C>T
11g.77211248A>CCA381935928MYO7Ac.6148A>C (p.Lys2050Gln)
c.3949A>C
c.6001A>C (p.Lys2001Gln)
c.3574A>C (p.Lys1192Gln)
c.6034A>C (p.Lys2012Gln)
n.3684A>C
n.25+337A>C
n.1615A>C
c.6031A>C (p.Lys2011Gln)
c.6139A>C (p.Lys2047Gln)
c.6142A>C (p.Lys2048Gln)
c.6115A>C (p.Lys2039Gln)
c.6052A>C (p.Lys2018Gln)
c.5923A>C (p.Lys1975Gln)
c.5911A>C (p.Lys1971Gln)
c.5884A>C (p.Lys1962Gln)
n.6468A>C
n.6442A>C
c.6238A>C (p.Lys2080Gln)
c.6232A>C (p.Lys2078Gln)
c.6229A>C (p.Lys2077Gln)
c.6124A>C (p.Lys2042Gln)
c.6121A>C (p.Lys2041Gln)
n.6227A>C
n.6168A>C
n.6213A>C
11g.77211248A>GCA381935930MYO7Ac.6148A>G (p.Lys2050Glu)
c.3949A>G
c.6001A>G (p.Lys2001Glu)
c.3574A>G (p.Lys1192Glu)
c.6034A>G (p.Lys2012Glu)
n.3684A>G
n.25+337A>G
n.1615A>G
c.6031A>G (p.Lys2011Glu)
c.6139A>G (p.Lys2047Glu)
c.6142A>G (p.Lys2048Glu)
c.6115A>G (p.Lys2039Glu)
c.6052A>G (p.Lys2018Glu)
c.5923A>G (p.Lys1975Glu)
c.5911A>G (p.Lys1971Glu)
c.5884A>G (p.Lys1962Glu)
n.6468A>G
n.6442A>G
c.6238A>G (p.Lys2080Glu)
c.6232A>G (p.Lys2078Glu)
c.6229A>G (p.Lys2077Glu)
c.6124A>G (p.Lys2042Glu)
c.6121A>G (p.Lys2041Glu)
n.6227A>G
n.6168A>G
n.6213A>G
11g.77211248A>TCA381935932MYO7Ac.6148A>T (p.Lys2050Ter)
c.3949A>T
c.6001A>T (p.Lys2001Ter)
c.3574A>T (p.Lys1192Ter)
c.6034A>T (p.Lys2012Ter)
n.3684A>T
n.25+337A>T
n.1615A>T
c.6031A>T (p.Lys2011Ter)
c.6139A>T (p.Lys2047Ter)
c.6142A>T (p.Lys2048Ter)
c.6115A>T (p.Lys2039Ter)
c.6052A>T (p.Lys2018Ter)
c.5923A>T (p.Lys1975Ter)
c.5911A>T (p.Lys1971Ter)
c.5884A>T (p.Lys1962Ter)
n.6468A>T
n.6442A>T
c.6238A>T (p.Lys2080Ter)
c.6232A>T (p.Lys2078Ter)
c.6229A>T (p.Lys2077Ter)
c.6124A>T (p.Lys2042Ter)
c.6121A>T (p.Lys2041Ter)
n.6227A>T
n.6168A>T
n.6213A>T
11g.77211249A>CCA381935936MYO7Ac.6149A>C (p.Lys2050Thr)
c.3950A>C
c.6002A>C (p.Lys2001Thr)
c.3575A>C (p.Lys1192Thr)
c.6035A>C (p.Lys2012Thr)
n.3685A>C
n.25+338A>C
n.1616A>C
c.6032A>C (p.Lys2011Thr)
c.6140A>C (p.Lys2047Thr)
c.6143A>C (p.Lys2048Thr)
c.6116A>C (p.Lys2039Thr)
c.6053A>C (p.Lys2018Thr)
c.5924A>C (p.Lys1975Thr)
c.5912A>C (p.Lys1971Thr)
c.5885A>C (p.Lys1962Thr)
n.6469A>C
n.6443A>C
c.6239A>C (p.Lys2080Thr)
c.6233A>C (p.Lys2078Thr)
c.6230A>C (p.Lys2077Thr)
c.6125A>C (p.Lys2042Thr)
c.6122A>C (p.Lys2041Thr)
n.6228A>C
n.6169A>C
n.6214A>C
11g.77211249A>GCA381935938MYO7Ac.6149A>G (p.Lys2050Arg)
c.3950A>G
c.6002A>G (p.Lys2001Arg)
c.3575A>G (p.Lys1192Arg)
c.6035A>G (p.Lys2012Arg)
n.3685A>G
n.25+338A>G
n.1616A>G
c.6032A>G (p.Lys2011Arg)
c.6140A>G (p.Lys2047Arg)
c.6143A>G (p.Lys2048Arg)
c.6116A>G (p.Lys2039Arg)
c.6053A>G (p.Lys2018Arg)
c.5924A>G (p.Lys1975Arg)
c.5912A>G (p.Lys1971Arg)
c.5885A>G (p.Lys1962Arg)
n.6469A>G
n.6443A>G
c.6239A>G (p.Lys2080Arg)
c.6233A>G (p.Lys2078Arg)
c.6230A>G (p.Lys2077Arg)
c.6125A>G (p.Lys2042Arg)
c.6122A>G (p.Lys2041Arg)
n.6228A>G
n.6169A>G
n.6214A>G
11g.77211249A>TCA381935940MYO7Ac.6149A>T (p.Lys2050Met)
c.3950A>T
c.6002A>T (p.Lys2001Met)
c.3575A>T (p.Lys1192Met)
c.6035A>T (p.Lys2012Met)
n.3685A>T
n.25+338A>T
n.1616A>T
c.6032A>T (p.Lys2011Met)
c.6140A>T (p.Lys2047Met)
c.6143A>T (p.Lys2048Met)
c.6116A>T (p.Lys2039Met)
c.6053A>T (p.Lys2018Met)
c.5924A>T (p.Lys1975Met)
c.5912A>T (p.Lys1971Met)
c.5885A>T (p.Lys1962Met)
n.6469A>T
n.6443A>T
c.6239A>T (p.Lys2080Met)
c.6233A>T (p.Lys2078Met)
c.6230A>T (p.Lys2077Met)
c.6125A>T (p.Lys2042Met)
c.6122A>T (p.Lys2041Met)
n.6228A>T
n.6169A>T
n.6214A>T
11g.77211250G>ACA6198942MYO7Ac.6150G>A (p.Lys2050=)
c.3951G>A
c.6003G>A (p.Lys2001=)
c.3576G>A (p.Lys1192=)
c.6036G>A (p.Lys2012=)
n.3686G>A
n.25+339G>A
n.1617G>A
c.6033G>A (p.Lys2011=)
c.6141G>A (p.Lys2047=)
c.6144G>A (p.Lys2048=)
c.6117G>A (p.Lys2039=)
c.6054G>A (p.Lys2018=)
c.5925G>A (p.Lys1975=)
c.5913G>A (p.Lys1971=)
c.5886G>A (p.Lys1962=)
n.6470G>A
n.6444G>A
c.6240G>A (p.Lys2080=)
c.6234G>A (p.Lys2078=)
c.6231G>A (p.Lys2077=)
c.6126G>A (p.Lys2042=)
c.6123G>A (p.Lys2041=)
n.6229G>A
n.6170G>A
n.6215G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211250G>CCA381935945MYO7Ac.6150G>C (p.Lys2050Asn)
c.3951G>C
c.6003G>C (p.Lys2001Asn)
c.3576G>C (p.Lys1192Asn)
c.6036G>C (p.Lys2012Asn)
n.3686G>C
n.25+339G>C
n.1617G>C
c.6033G>C (p.Lys2011Asn)
c.6141G>C (p.Lys2047Asn)
c.6144G>C (p.Lys2048Asn)
c.6117G>C (p.Lys2039Asn)
c.6054G>C (p.Lys2018Asn)
c.5925G>C (p.Lys1975Asn)
c.5913G>C (p.Lys1971Asn)
c.5886G>C (p.Lys1962Asn)
n.6470G>C
n.6444G>C
c.6240G>C (p.Lys2080Asn)
c.6234G>C (p.Lys2078Asn)
c.6231G>C (p.Lys2077Asn)
c.6126G>C (p.Lys2042Asn)
c.6123G>C (p.Lys2041Asn)
n.6229G>C
n.6170G>C
n.6215G>C
11g.77211250G=CA1984129878MYO7Ac.6150G= (p.Lys2050=)
c.3951G=
c.6003G= (p.Lys2001=)
c.3576G= (p.Lys1192=)
c.6036G= (p.Lys2012=)
n.3686G=
n.25+339G=
n.1617G=
c.6033G= (p.Lys2011=)
c.6141G= (p.Lys2047=)
c.6144G= (p.Lys2048=)
c.6117G= (p.Lys2039=)
c.6054G= (p.Lys2018=)
c.5925G= (p.Lys1975=)
c.5913G= (p.Lys1971=)
c.5886G= (p.Lys1962=)
n.6470G=
n.6444G=
c.6240G= (p.Lys2080=)
c.6234G= (p.Lys2078=)
c.6231G= (p.Lys2077=)
c.6126G= (p.Lys2042=)
c.6123G= (p.Lys2041=)
n.6229G=
n.6170G=
n.6215G=
11g.77211250G>TCA381935942MYO7Ac.6150G>T (p.Lys2050Asn)
c.3951G>T
c.6003G>T (p.Lys2001Asn)
c.3576G>T (p.Lys1192Asn)
c.6036G>T (p.Lys2012Asn)
n.3686G>T
n.25+339G>T
n.1617G>T
c.6033G>T (p.Lys2011Asn)
c.6141G>T (p.Lys2047Asn)
c.6144G>T (p.Lys2048Asn)
c.6117G>T (p.Lys2039Asn)
c.6054G>T (p.Lys2018Asn)
c.5925G>T (p.Lys1975Asn)
c.5913G>T (p.Lys1971Asn)
c.5886G>T (p.Lys1962Asn)
n.6470G>T
n.6444G>T
c.6240G>T (p.Lys2080Asn)
c.6234G>T (p.Lys2078Asn)
c.6231G>T (p.Lys2077Asn)
c.6126G>T (p.Lys2042Asn)
c.6123G>T (p.Lys2041Asn)
n.6229G>T
n.6170G>T
n.6215G>T
 gnomAD v4
11g.77211251T>ACA381935948MYO7Ac.6151T>A (p.Ser2051Thr)
c.3952T>A
c.6004T>A (p.Ser2002Thr)
c.3577T>A (p.Ser1193Thr)
c.6037T>A (p.Ser2013Thr)
n.3687T>A
n.25+340T>A
n.1618T>A
c.6034T>A (p.Ser2012Thr)
c.6142T>A (p.Ser2048Thr)
c.6145T>A (p.Ser2049Thr)
c.6118T>A (p.Ser2040Thr)
c.6055T>A (p.Ser2019Thr)
c.5926T>A (p.Ser1976Thr)
c.5914T>A (p.Ser1972Thr)
c.5887T>A (p.Ser1963Thr)
n.6471T>A
n.6445T>A
c.6241T>A (p.Ser2081Thr)
c.6235T>A (p.Ser2079Thr)
c.6232T>A (p.Ser2078Thr)
c.6127T>A (p.Ser2043Thr)
c.6124T>A (p.Ser2042Thr)
n.6230T>A
n.6171T>A
n.6216T>A
11g.77211251T>CCA381935950MYO7Ac.6151T>C (p.Ser2051Pro)
c.3952T>C
c.6004T>C (p.Ser2002Pro)
c.3577T>C (p.Ser1193Pro)
c.6037T>C (p.Ser2013Pro)
n.3687T>C
n.25+340T>C
n.1618T>C
c.6034T>C (p.Ser2012Pro)
c.6142T>C (p.Ser2048Pro)
c.6145T>C (p.Ser2049Pro)
c.6118T>C (p.Ser2040Pro)
c.6055T>C (p.Ser2019Pro)
c.5926T>C (p.Ser1976Pro)
c.5914T>C (p.Ser1972Pro)
c.5887T>C (p.Ser1963Pro)
n.6471T>C
n.6445T>C
c.6241T>C (p.Ser2081Pro)
c.6235T>C (p.Ser2079Pro)
c.6232T>C (p.Ser2078Pro)
c.6127T>C (p.Ser2043Pro)
c.6124T>C (p.Ser2042Pro)
n.6230T>C
n.6171T>C
n.6216T>C
11g.77211251T>GCA381935952MYO7Ac.6151T>G (p.Ser2051Ala)
c.3952T>G
c.6004T>G (p.Ser2002Ala)
c.3577T>G (p.Ser1193Ala)
c.6037T>G (p.Ser2013Ala)
n.3687T>G
n.25+340T>G
n.1618T>G
c.6034T>G (p.Ser2012Ala)
c.6142T>G (p.Ser2048Ala)
c.6145T>G (p.Ser2049Ala)
c.6118T>G (p.Ser2040Ala)
c.6055T>G (p.Ser2019Ala)
c.5926T>G (p.Ser1976Ala)
c.5914T>G (p.Ser1972Ala)
c.5887T>G (p.Ser1963Ala)
n.6471T>G
n.6445T>G
c.6241T>G (p.Ser2081Ala)
c.6235T>G (p.Ser2079Ala)
c.6232T>G (p.Ser2078Ala)
c.6127T>G (p.Ser2043Ala)
c.6124T>G (p.Ser2042Ala)
n.6230T>G
n.6171T>G
n.6216T>G
11g.77211252C>ACA381935956MYO7Ac.6152C>A (p.Ser2051Tyr)
c.3953C>A
c.6005C>A (p.Ser2002Tyr)
c.3578C>A (p.Ser1193Tyr)
c.6038C>A (p.Ser2013Tyr)
n.3688C>A
n.25+341C>A
n.1619C>A
c.6035C>A (p.Ser2012Tyr)
c.6143C>A (p.Ser2048Tyr)
c.6146C>A (p.Ser2049Tyr)
c.6119C>A (p.Ser2040Tyr)
c.6056C>A (p.Ser2019Tyr)
c.5927C>A (p.Ser1976Tyr)
c.5915C>A (p.Ser1972Tyr)
c.5888C>A (p.Ser1963Tyr)
n.6472C>A
n.6446C>A
c.6242C>A (p.Ser2081Tyr)
c.6236C>A (p.Ser2079Tyr)
c.6233C>A (p.Ser2078Tyr)
c.6128C>A (p.Ser2043Tyr)
c.6125C>A (p.Ser2042Tyr)
n.6231C>A
n.6172C>A
n.6217C>A
 gnomAD v4
11g.77211252C>GCA381935958MYO7Ac.6152C>G (p.Ser2051Cys)
c.3953C>G
c.6005C>G (p.Ser2002Cys)
c.3578C>G (p.Ser1193Cys)
c.6038C>G (p.Ser2013Cys)
n.3688C>G
n.25+341C>G
n.1619C>G
c.6035C>G (p.Ser2012Cys)
c.6143C>G (p.Ser2048Cys)
c.6146C>G (p.Ser2049Cys)
c.6119C>G (p.Ser2040Cys)
c.6056C>G (p.Ser2019Cys)
c.5927C>G (p.Ser1976Cys)
c.5915C>G (p.Ser1972Cys)
c.5888C>G (p.Ser1963Cys)
n.6472C>G
n.6446C>G
c.6242C>G (p.Ser2081Cys)
c.6236C>G (p.Ser2079Cys)
c.6233C>G (p.Ser2078Cys)
c.6128C>G (p.Ser2043Cys)
c.6125C>G (p.Ser2042Cys)
n.6231C>G
n.6172C>G
n.6217C>G
11g.77211252C>TCA381935960MYO7Ac.6152C>T (p.Ser2051Phe)
c.3953C>T
c.6005C>T (p.Ser2002Phe)
c.3578C>T (p.Ser1193Phe)
c.6038C>T (p.Ser2013Phe)
n.3688C>T
n.25+341C>T
n.1619C>T
c.6035C>T (p.Ser2012Phe)
c.6143C>T (p.Ser2048Phe)
c.6146C>T (p.Ser2049Phe)
c.6119C>T (p.Ser2040Phe)
c.6056C>T (p.Ser2019Phe)
c.5927C>T (p.Ser1976Phe)
c.5915C>T (p.Ser1972Phe)
c.5888C>T (p.Ser1963Phe)
n.6472C>T
n.6446C>T
c.6242C>T (p.Ser2081Phe)
c.6236C>T (p.Ser2079Phe)
c.6233C>T (p.Ser2078Phe)
c.6128C>T (p.Ser2043Phe)
c.6125C>T (p.Ser2042Phe)
n.6231C>T
n.6172C>T
n.6217C>T
11g.77211253C>ACA475791981MYO7Ac.6153C>A (p.Ser2051=)
c.3954C>A
c.6006C>A (p.Ser2002=)
c.3579C>A (p.Ser1193=)
c.6039C>A (p.Ser2013=)
n.3689C>A
n.25+342C>A
n.1620C>A
c.6036C>A (p.Ser2012=)
c.6144C>A (p.Ser2048=)
c.6147C>A (p.Ser2049=)
c.6120C>A (p.Ser2040=)
c.6057C>A (p.Ser2019=)
c.5928C>A (p.Ser1976=)
c.5916C>A (p.Ser1972=)
c.5889C>A (p.Ser1963=)
n.6473C>A
n.6447C>A
c.6243C>A (p.Ser2081=)
c.6237C>A (p.Ser2079=)
c.6234C>A (p.Ser2078=)
c.6129C>A (p.Ser2043=)
c.6126C>A (p.Ser2042=)
n.6232C>A
n.6173C>A
n.6218C>A
11g.77211253C>GCA475791982MYO7Ac.6153C>G (p.Ser2051=)
c.3954C>G
c.6006C>G (p.Ser2002=)
c.3579C>G (p.Ser1193=)
c.6039C>G (p.Ser2013=)
n.3689C>G
n.25+342C>G
n.1620C>G
c.6036C>G (p.Ser2012=)
c.6144C>G (p.Ser2048=)
c.6147C>G (p.Ser2049=)
c.6120C>G (p.Ser2040=)
c.6057C>G (p.Ser2019=)
c.5928C>G (p.Ser1976=)
c.5916C>G (p.Ser1972=)
c.5889C>G (p.Ser1963=)
n.6473C>G
n.6447C>G
c.6243C>G (p.Ser2081=)
c.6237C>G (p.Ser2079=)
c.6234C>G (p.Ser2078=)
c.6129C>G (p.Ser2043=)
c.6126C>G (p.Ser2042=)
n.6232C>G
n.6173C>G
n.6218C>G
 ClinVar
11g.77211253C>TCA475791983MYO7Ac.6153C>T (p.Ser2051=)
c.3954C>T
c.6006C>T (p.Ser2002=)
c.3579C>T (p.Ser1193=)
c.6039C>T (p.Ser2013=)
n.3689C>T
n.25+342C>T
n.1620C>T
c.6036C>T (p.Ser2012=)
c.6144C>T (p.Ser2048=)
c.6147C>T (p.Ser2049=)
c.6120C>T (p.Ser2040=)
c.6057C>T (p.Ser2019=)
c.5928C>T (p.Ser1976=)
c.5916C>T (p.Ser1972=)
c.5889C>T (p.Ser1963=)
n.6473C>T
n.6447C>T
c.6243C>T (p.Ser2081=)
c.6237C>T (p.Ser2079=)
c.6234C>T (p.Ser2078=)
c.6129C>T (p.Ser2043=)
c.6126C>T (p.Ser2042=)
n.6232C>T
n.6173C>T
n.6218C>T
11g.77211255_77211257delCA2739265962MYO7Ac.6155_6157del (p.Tyr2052del)
c.3956_3958del
c.6008_6010del (p.Tyr2003del)
c.3581_3583del (p.Tyr1194del)
c.6041_6043del (p.Tyr2014del)
n.3691_3693del
n.25+344_25+346del
n.1622_1624del
c.6038_6040del (p.Tyr2013del)
c.6146_6148del (p.Tyr2049del)
c.6149_6151del (p.Tyr2050del)
c.6122_6124del (p.Tyr2041del)
c.6059_6061del (p.Tyr2020del)
c.5930_5932del (p.Tyr1977del)
c.5918_5920del (p.Tyr1973del)
c.5891_5893del (p.Tyr1964del)
n.6475_6477del
n.6449_6451del
c.6245_6247del (p.Tyr2082del)
c.6239_6241del (p.Tyr2080del)
c.6236_6238del (p.Tyr2079del)
c.6131_6133del (p.Tyr2044del)
c.6128_6130del (p.Tyr2043del)
n.6234_6236del
n.6175_6177del
n.6220_6222del
 ClinVar
11g.77211254T>ACA381935968MYO7Ac.6154T>A (p.Tyr2052Asn)
c.3955T>A
c.6007T>A (p.Tyr2003Asn)
c.3580T>A (p.Tyr1194Asn)
c.6040T>A (p.Tyr2014Asn)
n.3690T>A
n.25+343T>A
n.1621T>A
c.6037T>A (p.Tyr2013Asn)
c.6145T>A (p.Tyr2049Asn)
c.6148T>A (p.Tyr2050Asn)
c.6121T>A (p.Tyr2041Asn)
c.6058T>A (p.Tyr2020Asn)
c.5929T>A (p.Tyr1977Asn)
c.5917T>A (p.Tyr1973Asn)
c.5890T>A (p.Tyr1964Asn)
n.6474T>A
n.6448T>A
c.6244T>A (p.Tyr2082Asn)
c.6238T>A (p.Tyr2080Asn)
c.6235T>A (p.Tyr2079Asn)
c.6130T>A (p.Tyr2044Asn)
c.6127T>A (p.Tyr2043Asn)
n.6233T>A
n.6174T>A
n.6219T>A
11g.77211254T>CCA381935964MYO7Ac.6154T>C (p.Tyr2052His)
c.3955T>C
c.6007T>C (p.Tyr2003His)
c.3580T>C (p.Tyr1194His)
c.6040T>C (p.Tyr2014His)
n.3690T>C
n.25+343T>C
n.1621T>C
c.6037T>C (p.Tyr2013His)
c.6145T>C (p.Tyr2049His)
c.6148T>C (p.Tyr2050His)
c.6121T>C (p.Tyr2041His)
c.6058T>C (p.Tyr2020His)
c.5929T>C (p.Tyr1977His)
c.5917T>C (p.Tyr1973His)
c.5890T>C (p.Tyr1964His)
n.6474T>C
n.6448T>C
c.6244T>C (p.Tyr2082His)
c.6238T>C (p.Tyr2080His)
c.6235T>C (p.Tyr2079His)
c.6130T>C (p.Tyr2044His)
c.6127T>C (p.Tyr2043His)
n.6233T>C
n.6174T>C
n.6219T>C
 gnomAD v4
11g.77211254T>GCA381935966MYO7Ac.6154T>G (p.Tyr2052Asp)
c.3955T>G
c.6007T>G (p.Tyr2003Asp)
c.3580T>G (p.Tyr1194Asp)
c.6040T>G (p.Tyr2014Asp)
n.3690T>G
n.25+343T>G
n.1621T>G
c.6037T>G (p.Tyr2013Asp)
c.6145T>G (p.Tyr2049Asp)
c.6148T>G (p.Tyr2050Asp)
c.6121T>G (p.Tyr2041Asp)
c.6058T>G (p.Tyr2020Asp)
c.5929T>G (p.Tyr1977Asp)
c.5917T>G (p.Tyr1973Asp)
c.5890T>G (p.Tyr1964Asp)
n.6474T>G
n.6448T>G
c.6244T>G (p.Tyr2082Asp)
c.6238T>G (p.Tyr2080Asp)
c.6235T>G (p.Tyr2079Asp)
c.6130T>G (p.Tyr2044Asp)
c.6127T>G (p.Tyr2043Asp)
n.6233T>G
n.6174T>G
n.6219T>G
 ClinVar dbSNP
11g.77211254T=CA1984129879MYO7Ac.6154T= (p.Tyr2052=)
c.3955T=
c.6007T= (p.Tyr2003=)
c.3580T= (p.Tyr1194=)
c.6040T= (p.Tyr2014=)
n.3690T=
n.25+343T=
n.1621T=
c.6037T= (p.Tyr2013=)
c.6145T= (p.Tyr2049=)
c.6148T= (p.Tyr2050=)
c.6121T= (p.Tyr2041=)
c.6058T= (p.Tyr2020=)
c.5929T= (p.Tyr1977=)
c.5917T= (p.Tyr1973=)
c.5890T= (p.Tyr1964=)
n.6474T=
n.6448T=
c.6244T= (p.Tyr2082=)
c.6238T= (p.Tyr2080=)
c.6235T= (p.Tyr2079=)
c.6130T= (p.Tyr2044=)
c.6127T= (p.Tyr2043=)
n.6233T=
n.6174T=
n.6219T=
11g.77211255A=CA1984129880MYO7Ac.6155A= (p.Tyr2052=)
c.3956A=
c.6008A= (p.Tyr2003=)
c.3581A= (p.Tyr1194=)
c.6041A= (p.Tyr2014=)
n.3691A=
n.25+344A=
n.1622A=
c.6038A= (p.Tyr2013=)
c.6146A= (p.Tyr2049=)
c.6149A= (p.Tyr2050=)
c.6122A= (p.Tyr2041=)
c.6059A= (p.Tyr2020=)
c.5930A= (p.Tyr1977=)
c.5918A= (p.Tyr1973=)
c.5891A= (p.Tyr1964=)
n.6475A=
n.6449A=
c.6245A= (p.Tyr2082=)
c.6239A= (p.Tyr2080=)
c.6236A= (p.Tyr2079=)
c.6131A= (p.Tyr2044=)
c.6128A= (p.Tyr2043=)
n.6234A=
n.6175A=
n.6220A=
11g.77211255A>CCA381935971MYO7Ac.6155A>C (p.Tyr2052Ser)
c.3956A>C
c.6008A>C (p.Tyr2003Ser)
c.3581A>C (p.Tyr1194Ser)
c.6041A>C (p.Tyr2014Ser)
n.3691A>C
n.25+344A>C
n.1622A>C
c.6038A>C (p.Tyr2013Ser)
c.6146A>C (p.Tyr2049Ser)
c.6149A>C (p.Tyr2050Ser)
c.6122A>C (p.Tyr2041Ser)
c.6059A>C (p.Tyr2020Ser)
c.5930A>C (p.Tyr1977Ser)
c.5918A>C (p.Tyr1973Ser)
c.5891A>C (p.Tyr1964Ser)
n.6475A>C
n.6449A>C
c.6245A>C (p.Tyr2082Ser)
c.6239A>C (p.Tyr2080Ser)
c.6236A>C (p.Tyr2079Ser)
c.6131A>C (p.Tyr2044Ser)
c.6128A>C (p.Tyr2043Ser)
n.6234A>C
n.6175A>C
n.6220A>C
 gnomAD v4
11g.77211255A>GCA224827717MYO7Ac.6155A>G (p.Tyr2052Cys)
c.3956A>G
c.6008A>G (p.Tyr2003Cys)
c.3581A>G (p.Tyr1194Cys)
c.6041A>G (p.Tyr2014Cys)
n.3691A>G
n.25+344A>G
n.1622A>G
c.6038A>G (p.Tyr2013Cys)
c.6146A>G (p.Tyr2049Cys)
c.6149A>G (p.Tyr2050Cys)
c.6122A>G (p.Tyr2041Cys)
c.6059A>G (p.Tyr2020Cys)
c.5930A>G (p.Tyr1977Cys)
c.5918A>G (p.Tyr1973Cys)
c.5891A>G (p.Tyr1964Cys)
n.6475A>G
n.6449A>G
c.6245A>G (p.Tyr2082Cys)
c.6239A>G (p.Tyr2080Cys)
c.6236A>G (p.Tyr2079Cys)
c.6131A>G (p.Tyr2044Cys)
c.6128A>G (p.Tyr2043Cys)
n.6234A>G
n.6175A>G
n.6220A>G
 dbSNP gnomAD v4
11g.77211255A>TCA381935975MYO7Ac.6155A>T (p.Tyr2052Phe)
c.3956A>T
c.6008A>T (p.Tyr2003Phe)
c.3581A>T (p.Tyr1194Phe)
c.6041A>T (p.Tyr2014Phe)
n.3691A>T
n.25+344A>T
n.1622A>T
c.6038A>T (p.Tyr2013Phe)
c.6146A>T (p.Tyr2049Phe)
c.6149A>T (p.Tyr2050Phe)
c.6122A>T (p.Tyr2041Phe)
c.6059A>T (p.Tyr2020Phe)
c.5930A>T (p.Tyr1977Phe)
c.5918A>T (p.Tyr1973Phe)
c.5891A>T (p.Tyr1964Phe)
n.6475A>T
n.6449A>T
c.6245A>T (p.Tyr2082Phe)
c.6239A>T (p.Tyr2080Phe)
c.6236A>T (p.Tyr2079Phe)
c.6131A>T (p.Tyr2044Phe)
c.6128A>T (p.Tyr2043Phe)
n.6234A>T
n.6175A>T
n.6220A>T
11g.77211256C>ACA381935978MYO7Ac.6156C>A (p.Tyr2052Ter)
c.3957C>A
c.6009C>A (p.Tyr2003Ter)
c.3582C>A (p.Tyr1194Ter)
c.6042C>A (p.Tyr2014Ter)
n.3692C>A
n.25+345C>A
n.1623C>A
c.6039C>A (p.Tyr2013Ter)
c.6147C>A (p.Tyr2049Ter)
c.6150C>A (p.Tyr2050Ter)
c.6123C>A (p.Tyr2041Ter)
c.6060C>A (p.Tyr2020Ter)
c.5931C>A (p.Tyr1977Ter)
c.5919C>A (p.Tyr1973Ter)
c.5892C>A (p.Tyr1964Ter)
n.6476C>A
n.6450C>A
c.6246C>A (p.Tyr2082Ter)
c.6240C>A (p.Tyr2080Ter)
c.6237C>A (p.Tyr2079Ter)
c.6132C>A (p.Tyr2044Ter)
c.6129C>A (p.Tyr2043Ter)
n.6235C>A
n.6176C>A
n.6221C>A
11g.77211256C=CA1984129881MYO7Ac.6156C= (p.Tyr2052=)
c.3957C=
c.6009C= (p.Tyr2003=)
c.3582C= (p.Tyr1194=)
c.6042C= (p.Tyr2014=)
n.3692C=
n.25+345C=
n.1623C=
c.6039C= (p.Tyr2013=)
c.6147C= (p.Tyr2049=)
c.6150C= (p.Tyr2050=)
c.6123C= (p.Tyr2041=)
c.6060C= (p.Tyr2020=)
c.5931C= (p.Tyr1977=)
c.5919C= (p.Tyr1973=)
c.5892C= (p.Tyr1964=)
n.6476C=
n.6450C=
c.6246C= (p.Tyr2082=)
c.6240C= (p.Tyr2080=)
c.6237C= (p.Tyr2079=)
c.6132C= (p.Tyr2044=)
c.6129C= (p.Tyr2043=)
n.6235C=
n.6176C=
n.6221C=
11g.77211256C>GCA381935981MYO7Ac.6156C>G (p.Tyr2052Ter)
c.3957C>G
c.6009C>G (p.Tyr2003Ter)
c.3582C>G (p.Tyr1194Ter)
c.6042C>G (p.Tyr2014Ter)
n.3692C>G
n.25+345C>G
n.1623C>G
c.6039C>G (p.Tyr2013Ter)
c.6147C>G (p.Tyr2049Ter)
c.6150C>G (p.Tyr2050Ter)
c.6123C>G (p.Tyr2041Ter)
c.6060C>G (p.Tyr2020Ter)
c.5931C>G (p.Tyr1977Ter)
c.5919C>G (p.Tyr1973Ter)
c.5892C>G (p.Tyr1964Ter)
n.6476C>G
n.6450C>G
c.6246C>G (p.Tyr2082Ter)
c.6240C>G (p.Tyr2080Ter)
c.6237C>G (p.Tyr2079Ter)
c.6132C>G (p.Tyr2044Ter)
c.6129C>G (p.Tyr2043Ter)
n.6235C>G
n.6176C>G
n.6221C>G
11g.77211256C>TCA475791987MYO7Ac.6156C>T (p.Tyr2052=)
c.3957C>T
c.6009C>T (p.Tyr2003=)
c.3582C>T (p.Tyr1194=)
c.6042C>T (p.Tyr2014=)
n.3692C>T
n.25+345C>T
n.1623C>T
c.6039C>T (p.Tyr2013=)
c.6147C>T (p.Tyr2049=)
c.6150C>T (p.Tyr2050=)
c.6123C>T (p.Tyr2041=)
c.6060C>T (p.Tyr2020=)
c.5931C>T (p.Tyr1977=)
c.5919C>T (p.Tyr1973=)
c.5892C>T (p.Tyr1964=)
n.6476C>T
n.6450C>T
c.6246C>T (p.Tyr2082=)
c.6240C>T (p.Tyr2080=)
c.6237C>T (p.Tyr2079=)
c.6132C>T (p.Tyr2044=)
c.6129C>T (p.Tyr2043=)
n.6235C>T
n.6176C>T
n.6221C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.77211257T>ACA381935983MYO7Ac.6157T>A (p.Phe2053Ile)
c.3958T>A
c.6010T>A (p.Phe2004Ile)
c.3583T>A (p.Phe1195Ile)
c.6043T>A (p.Phe2015Ile)
n.3693T>A
n.25+346T>A
n.1624T>A
c.6040T>A (p.Phe2014Ile)
c.6148T>A (p.Phe2050Ile)
c.6151T>A (p.Phe2051Ile)
c.6124T>A (p.Phe2042Ile)
c.6061T>A (p.Phe2021Ile)
c.5932T>A (p.Phe1978Ile)
c.5920T>A (p.Phe1974Ile)
c.5893T>A (p.Phe1965Ile)
n.6477T>A
n.6451T>A
c.6247T>A (p.Phe2083Ile)
c.6241T>A (p.Phe2081Ile)
c.6238T>A (p.Phe2080Ile)
c.6133T>A (p.Phe2045Ile)
c.6130T>A (p.Phe2044Ile)
n.6236T>A
n.6177T>A
n.6222T>A
11g.77211257T>CCA381935985MYO7Ac.6157T>C (p.Phe2053Leu)
c.3958T>C
c.6010T>C (p.Phe2004Leu)
c.3583T>C (p.Phe1195Leu)
c.6043T>C (p.Phe2015Leu)
n.3693T>C
n.25+346T>C
n.1624T>C
c.6040T>C (p.Phe2014Leu)
c.6148T>C (p.Phe2050Leu)
c.6151T>C (p.Phe2051Leu)
c.6124T>C (p.Phe2042Leu)
c.6061T>C (p.Phe2021Leu)
c.5932T>C (p.Phe1978Leu)
c.5920T>C (p.Phe1974Leu)
c.5893T>C (p.Phe1965Leu)
n.6477T>C
n.6451T>C
c.6247T>C (p.Phe2083Leu)
c.6241T>C (p.Phe2081Leu)
c.6238T>C (p.Phe2080Leu)
c.6133T>C (p.Phe2045Leu)
c.6130T>C (p.Phe2044Leu)
n.6236T>C
n.6177T>C
n.6222T>C
 gnomAD v4
11g.77211257T>GCA381935984MYO7Ac.6157T>G (p.Phe2053Val)
c.3958T>G
c.6010T>G (p.Phe2004Val)
c.3583T>G (p.Phe1195Val)
c.6043T>G (p.Phe2015Val)
n.3693T>G
n.25+346T>G
n.1624T>G
c.6040T>G (p.Phe2014Val)
c.6148T>G (p.Phe2050Val)
c.6151T>G (p.Phe2051Val)
c.6124T>G (p.Phe2042Val)
c.6061T>G (p.Phe2021Val)
c.5932T>G (p.Phe1978Val)
c.5920T>G (p.Phe1974Val)
c.5893T>G (p.Phe1965Val)
n.6477T>G
n.6451T>G
c.6247T>G (p.Phe2083Val)
c.6241T>G (p.Phe2081Val)
c.6238T>G (p.Phe2080Val)
c.6133T>G (p.Phe2045Val)
c.6130T>G (p.Phe2044Val)
n.6236T>G
n.6177T>G
n.6222T>G
11g.77211258T>ACA381935988MYO7Ac.6158T>A (p.Phe2053Tyr)
c.3959T>A
c.6011T>A (p.Phe2004Tyr)
c.3584T>A (p.Phe1195Tyr)
c.6044T>A (p.Phe2015Tyr)
n.3694T>A
n.25+347T>A
n.1625T>A
c.6041T>A (p.Phe2014Tyr)
c.6149T>A (p.Phe2050Tyr)
c.6152T>A (p.Phe2051Tyr)
c.6125T>A (p.Phe2042Tyr)
c.6062T>A (p.Phe2021Tyr)
c.5933T>A (p.Phe1978Tyr)
c.5921T>A (p.Phe1974Tyr)
c.5894T>A (p.Phe1965Tyr)
n.6478T>A
n.6452T>A
c.6248T>A (p.Phe2083Tyr)
c.6242T>A (p.Phe2081Tyr)
c.6239T>A (p.Phe2080Tyr)
c.6134T>A (p.Phe2045Tyr)
c.6131T>A (p.Phe2044Tyr)
n.6237T>A
n.6178T>A
n.6223T>A
11g.77211258T>CCA381935990MYO7Ac.6158T>C (p.Phe2053Ser)
c.3959T>C
c.6011T>C (p.Phe2004Ser)
c.3584T>C (p.Phe1195Ser)
c.6044T>C (p.Phe2015Ser)
n.3694T>C
n.25+347T>C
n.1625T>C
c.6041T>C (p.Phe2014Ser)
c.6149T>C (p.Phe2050Ser)
c.6152T>C (p.Phe2051Ser)
c.6125T>C (p.Phe2042Ser)
c.6062T>C (p.Phe2021Ser)
c.5933T>C (p.Phe1978Ser)
c.5921T>C (p.Phe1974Ser)
c.5894T>C (p.Phe1965Ser)
n.6478T>C
n.6452T>C
c.6248T>C (p.Phe2083Ser)
c.6242T>C (p.Phe2081Ser)
c.6239T>C (p.Phe2080Ser)
c.6134T>C (p.Phe2045Ser)
c.6131T>C (p.Phe2044Ser)
n.6237T>C
n.6178T>C
n.6223T>C
11g.77211258T>GCA381935993MYO7Ac.6158T>G (p.Phe2053Cys)
c.3959T>G
c.6011T>G (p.Phe2004Cys)
c.3584T>G (p.Phe1195Cys)
c.6044T>G (p.Phe2015Cys)
n.3694T>G
n.25+347T>G
n.1625T>G
c.6041T>G (p.Phe2014Cys)
c.6149T>G (p.Phe2050Cys)
c.6152T>G (p.Phe2051Cys)
c.6125T>G (p.Phe2042Cys)
c.6062T>G (p.Phe2021Cys)
c.5933T>G (p.Phe1978Cys)
c.5921T>G (p.Phe1974Cys)
c.5894T>G (p.Phe1965Cys)
n.6478T>G
n.6452T>G
c.6248T>G (p.Phe2083Cys)
c.6242T>G (p.Phe2081Cys)
c.6239T>G (p.Phe2080Cys)
c.6134T>G (p.Phe2045Cys)
c.6131T>G (p.Phe2044Cys)
n.6237T>G
n.6178T>G
n.6223T>G
11g.77211259C>ACA381935996MYO7Ac.6159C>A (p.Phe2053Leu)
c.3960C>A
c.6012C>A (p.Phe2004Leu)
c.3585C>A (p.Phe1195Leu)
c.6045C>A (p.Phe2015Leu)
n.3695C>A
n.25+348C>A
n.1626C>A
c.6042C>A (p.Phe2014Leu)
c.6150C>A (p.Phe2050Leu)
c.6153C>A (p.Phe2051Leu)
c.6126C>A (p.Phe2042Leu)
c.6063C>A (p.Phe2021Leu)
c.5934C>A (p.Phe1978Leu)
c.5922C>A (p.Phe1974Leu)
c.5895C>A (p.Phe1965Leu)
n.6479C>A
n.6453C>A
c.6249C>A (p.Phe2083Leu)
c.6243C>A (p.Phe2081Leu)
c.6240C>A (p.Phe2080Leu)
c.6135C>A (p.Phe2045Leu)
c.6132C>A (p.Phe2044Leu)
n.6238C>A
n.6179C>A
n.6224C>A
 gnomAD v4
11g.77211259C>GCA381935998MYO7Ac.6159C>G (p.Phe2053Leu)
c.3960C>G
c.6012C>G (p.Phe2004Leu)
c.3585C>G (p.Phe1195Leu)
c.6045C>G (p.Phe2015Leu)
n.3695C>G
n.25+348C>G
n.1626C>G
c.6042C>G (p.Phe2014Leu)
c.6150C>G (p.Phe2050Leu)
c.6153C>G (p.Phe2051Leu)
c.6126C>G (p.Phe2042Leu)
c.6063C>G (p.Phe2021Leu)
c.5934C>G (p.Phe1978Leu)
c.5922C>G (p.Phe1974Leu)
c.5895C>G (p.Phe1965Leu)
n.6479C>G
n.6453C>G
c.6249C>G (p.Phe2083Leu)
c.6243C>G (p.Phe2081Leu)
c.6240C>G (p.Phe2080Leu)
c.6135C>G (p.Phe2045Leu)
c.6132C>G (p.Phe2044Leu)
n.6238C>G
n.6179C>G
n.6224C>G
 gnomAD v4
11g.77211259C>TCA475791990MYO7Ac.6159C>T (p.Phe2053=)
c.3960C>T
c.6012C>T (p.Phe2004=)
c.3585C>T (p.Phe1195=)
c.6045C>T (p.Phe2015=)
n.3695C>T
n.25+348C>T
n.1626C>T
c.6042C>T (p.Phe2014=)
c.6150C>T (p.Phe2050=)
c.6153C>T (p.Phe2051=)
c.6126C>T (p.Phe2042=)
c.6063C>T (p.Phe2021=)
c.5934C>T (p.Phe1978=)
c.5922C>T (p.Phe1974=)
c.5895C>T (p.Phe1965=)
n.6479C>T
n.6453C>T
c.6249C>T (p.Phe2083=)
c.6243C>T (p.Phe2081=)
c.6240C>T (p.Phe2080=)
c.6135C>T (p.Phe2045=)
c.6132C>T (p.Phe2044=)
n.6238C>T
n.6179C>T
n.6224C>T
 ClinVar gnomAD v4
11g.77211262delCA2615262711MYO7Ac.6162del (p.Ser2055AlafsTer?)
c.3963del
c.6015del (p.Ser2006AlafsTer?)
c.3588del (p.Ser1197AlafsTer?)
c.6048del (p.Ser2017AlafsTer?)
n.3698del
n.25+351del
n.1629del
c.6045del (p.Ser2016AlafsTer?)
c.6153del (p.Ser2052AlafsTer?)
c.6156del (p.Ser2053AlafsTer?)
c.6129del (p.Ser2044AlafsTer?)
c.6066del (p.Ser2023AlafsTer?)
c.5937del (p.Ser1980AlafsTer?)
c.5925del (p.Ser1976AlafsTer?)
c.5898del (p.Ser1967AlafsTer?)
n.6482del
n.6456del
c.6252del (p.Ser2085AlafsTer?)
c.6246del (p.Ser2083AlafsTer?)
c.6243del (p.Ser2082AlafsTer?)
c.6138del (p.Ser2047AlafsTer?)
c.6135del (p.Ser2046AlafsTer?)
n.6241del
n.6182del
n.6227del
 gnomAD v4
11g.77211260C>ACA381936001MYO7Ac.6160C>A (p.Pro2054Thr)
c.3961C>A
c.6013C>A (p.Pro2005Thr)
c.3586C>A (p.Pro1196Thr)
c.6046C>A (p.Pro2016Thr)
n.3696C>A
n.25+349C>A
n.1627C>A
c.6043C>A (p.Pro2015Thr)
c.6151C>A (p.Pro2051Thr)
c.6154C>A (p.Pro2052Thr)
c.6127C>A (p.Pro2043Thr)
c.6064C>A (p.Pro2022Thr)
c.5935C>A (p.Pro1979Thr)
c.5923C>A (p.Pro1975Thr)
c.5896C>A (p.Pro1966Thr)
n.6480C>A
n.6454C>A
c.6250C>A (p.Pro2084Thr)
c.6244C>A (p.Pro2082Thr)
c.6241C>A (p.Pro2081Thr)
c.6136C>A (p.Pro2046Thr)
c.6133C>A (p.Pro2045Thr)
n.6239C>A
n.6180C>A
n.6225C>A
11g.77211260C>GCA381936003MYO7Ac.6160C>G (p.Pro2054Ala)
c.3961C>G
c.6013C>G (p.Pro2005Ala)
c.3586C>G (p.Pro1196Ala)
c.6046C>G (p.Pro2016Ala)
n.3696C>G
n.25+349C>G
n.1627C>G
c.6043C>G (p.Pro2015Ala)
c.6151C>G (p.Pro2051Ala)
c.6154C>G (p.Pro2052Ala)
c.6127C>G (p.Pro2043Ala)
c.6064C>G (p.Pro2022Ala)
c.5935C>G (p.Pro1979Ala)
c.5923C>G (p.Pro1975Ala)
c.5896C>G (p.Pro1966Ala)
n.6480C>G
n.6454C>G
c.6250C>G (p.Pro2084Ala)
c.6244C>G (p.Pro2082Ala)
c.6241C>G (p.Pro2081Ala)
c.6136C>G (p.Pro2046Ala)
c.6133C>G (p.Pro2045Ala)
n.6239C>G
n.6180C>G
n.6225C>G
11g.77211260C>TCA381936005MYO7Ac.6160C>T (p.Pro2054Ser)
c.3961C>T
c.6013C>T (p.Pro2005Ser)
c.3586C>T (p.Pro1196Ser)
c.6046C>T (p.Pro2016Ser)
n.3696C>T
n.25+349C>T
n.1627C>T
c.6043C>T (p.Pro2015Ser)
c.6151C>T (p.Pro2051Ser)
c.6154C>T (p.Pro2052Ser)
c.6127C>T (p.Pro2043Ser)
c.6064C>T (p.Pro2022Ser)
c.5935C>T (p.Pro1979Ser)
c.5923C>T (p.Pro1975Ser)
c.5896C>T (p.Pro1966Ser)
n.6480C>T
n.6454C>T
c.6250C>T (p.Pro2084Ser)
c.6244C>T (p.Pro2082Ser)
c.6241C>T (p.Pro2081Ser)
c.6136C>T (p.Pro2046Ser)
c.6133C>T (p.Pro2045Ser)
n.6239C>T
n.6180C>T
n.6225C>T
 gnomAD v4
11g.77211261C>ACA381936007MYO7Ac.6161C>A (p.Pro2054His)
c.3962C>A
c.6014C>A (p.Pro2005His)
c.3587C>A (p.Pro1196His)
c.6047C>A (p.Pro2016His)
n.3697C>A
n.25+350C>A
n.1628C>A
c.6044C>A (p.Pro2015His)
c.6152C>A (p.Pro2051His)
c.6155C>A (p.Pro2052His)
c.6128C>A (p.Pro2043His)
c.6065C>A (p.Pro2022His)
c.5936C>A (p.Pro1979His)
c.5924C>A (p.Pro1975His)
c.5897C>A (p.Pro1966His)
n.6481C>A
n.6455C>A
c.6251C>A (p.Pro2084His)
c.6245C>A (p.Pro2082His)
c.6242C>A (p.Pro2081His)
c.6137C>A (p.Pro2046His)
c.6134C>A (p.Pro2045His)
n.6240C>A
n.6181C>A
n.6226C>A
 gnomAD v4
11g.77211261C=CA1984129882MYO7Ac.6161C= (p.Pro2054=)
c.3962C=
c.6014C= (p.Pro2005=)
c.3587C= (p.Pro1196=)
c.6047C= (p.Pro2016=)
n.3697C=
n.25+350C=
n.1628C=
c.6044C= (p.Pro2015=)
c.6152C= (p.Pro2051=)
c.6155C= (p.Pro2052=)
c.6128C= (p.Pro2043=)
c.6065C= (p.Pro2022=)
c.5936C= (p.Pro1979=)
c.5924C= (p.Pro1975=)
c.5897C= (p.Pro1966=)
n.6481C=
n.6455C=
c.6251C= (p.Pro2084=)
c.6245C= (p.Pro2082=)
c.6242C= (p.Pro2081=)
c.6137C= (p.Pro2046=)
c.6134C= (p.Pro2045=)
n.6240C=
n.6181C=
n.6226C=
11g.77211261C>GCA381936010MYO7Ac.6161C>G (p.Pro2054Arg)
c.3962C>G
c.6014C>G (p.Pro2005Arg)
c.3587C>G (p.Pro1196Arg)
c.6047C>G (p.Pro2016Arg)
n.3697C>G
n.25+350C>G
n.1628C>G
c.6044C>G (p.Pro2015Arg)
c.6152C>G (p.Pro2051Arg)
c.6155C>G (p.Pro2052Arg)
c.6128C>G (p.Pro2043Arg)
c.6065C>G (p.Pro2022Arg)
c.5936C>G (p.Pro1979Arg)
c.5924C>G (p.Pro1975Arg)
c.5897C>G (p.Pro1966Arg)
n.6481C>G
n.6455C>G
c.6251C>G (p.Pro2084Arg)
c.6245C>G (p.Pro2082Arg)
c.6242C>G (p.Pro2081Arg)
c.6137C>G (p.Pro2046Arg)
c.6134C>G (p.Pro2045Arg)
n.6240C>G
n.6181C>G
n.6226C>G
11g.77211261C>TCA381936012MYO7Ac.6161C>T (p.Pro2054Leu)
c.3962C>T
c.6014C>T (p.Pro2005Leu)
c.3587C>T (p.Pro1196Leu)
c.6047C>T (p.Pro2016Leu)
n.3697C>T
n.25+350C>T
n.1628C>T
c.6044C>T (p.Pro2015Leu)
c.6152C>T (p.Pro2051Leu)
c.6155C>T (p.Pro2052Leu)
c.6128C>T (p.Pro2043Leu)
c.6065C>T (p.Pro2022Leu)
c.5936C>T (p.Pro1979Leu)
c.5924C>T (p.Pro1975Leu)
c.5897C>T (p.Pro1966Leu)
n.6481C>T
n.6455C>T
c.6251C>T (p.Pro2084Leu)
c.6245C>T (p.Pro2082Leu)
c.6242C>T (p.Pro2081Leu)
c.6137C>T (p.Pro2046Leu)
c.6134C>T (p.Pro2045Leu)
n.6240C>T
n.6181C>T
n.6226C>T
 dbSNP gnomAD v4
11g.77211262C>ACA475791994MYO7Ac.6162C>A (p.Pro2054=)
c.3963C>A
c.6015C>A (p.Pro2005=)
c.3588C>A (p.Pro1196=)
c.6048C>A (p.Pro2016=)
n.3698C>A
n.25+351C>A
n.1629C>A
c.6045C>A (p.Pro2015=)
c.6153C>A (p.Pro2051=)
c.6156C>A (p.Pro2052=)
c.6129C>A (p.Pro2043=)
c.6066C>A (p.Pro2022=)
c.5937C>A (p.Pro1979=)
c.5925C>A (p.Pro1975=)
c.5898C>A (p.Pro1966=)
n.6482C>A
n.6456C>A
c.6252C>A (p.Pro2084=)
c.6246C>A (p.Pro2082=)
c.6243C>A (p.Pro2081=)
c.6138C>A (p.Pro2046=)
c.6135C>A (p.Pro2045=)
n.6241C>A
n.6182C>A
n.6227C>A
 gnomAD v4
11g.77211262C=CA1984129883MYO7Ac.6162C= (p.Pro2054=)
c.3963C=
c.6015C= (p.Pro2005=)
c.3588C= (p.Pro1196=)
c.6048C= (p.Pro2016=)
n.3698C=
n.25+351C=
n.1629C=
c.6045C= (p.Pro2015=)
c.6153C= (p.Pro2051=)
c.6156C= (p.Pro2052=)
c.6129C= (p.Pro2043=)
c.6066C= (p.Pro2022=)
c.5937C= (p.Pro1979=)
c.5925C= (p.Pro1975=)
c.5898C= (p.Pro1966=)
n.6482C=
n.6456C=
c.6252C= (p.Pro2084=)
c.6246C= (p.Pro2082=)
c.6243C= (p.Pro2081=)
c.6138C= (p.Pro2046=)
c.6135C= (p.Pro2045=)
n.6241C=
n.6182C=
n.6227C=
11g.77211262C>GCA475791995MYO7Ac.6162C>G (p.Pro2054=)
c.3963C>G
c.6015C>G (p.Pro2005=)
c.3588C>G (p.Pro1196=)
c.6048C>G (p.Pro2016=)
n.3698C>G
n.25+351C>G
n.1629C>G
c.6045C>G (p.Pro2015=)
c.6153C>G (p.Pro2051=)
c.6156C>G (p.Pro2052=)
c.6129C>G (p.Pro2043=)
c.6066C>G (p.Pro2022=)
c.5937C>G (p.Pro1979=)
c.5925C>G (p.Pro1975=)
c.5898C>G (p.Pro1966=)
n.6482C>G
n.6456C>G
c.6252C>G (p.Pro2084=)
c.6246C>G (p.Pro2082=)
c.6243C>G (p.Pro2081=)
c.6138C>G (p.Pro2046=)
c.6135C>G (p.Pro2045=)
n.6241C>G
n.6182C>G
n.6227C>G
 dbSNP gnomAD v4
11g.77211262C>TCA6198943MYO7Ac.6162C>T (p.Pro2054=)
c.3963C>T
c.6015C>T (p.Pro2005=)
c.3588C>T (p.Pro1196=)
c.6048C>T (p.Pro2016=)
n.3698C>T
n.25+351C>T
n.1629C>T
c.6045C>T (p.Pro2015=)
c.6153C>T (p.Pro2051=)
c.6156C>T (p.Pro2052=)
c.6129C>T (p.Pro2043=)
c.6066C>T (p.Pro2022=)
c.5937C>T (p.Pro1979=)
c.5925C>T (p.Pro1975=)
c.5898C>T (p.Pro1966=)
n.6482C>T
n.6456C>T
c.6252C>T (p.Pro2084=)
c.6246C>T (p.Pro2082=)
c.6243C>T (p.Pro2081=)
c.6138C>T (p.Pro2046=)
c.6135C>T (p.Pro2045=)
n.6241C>T
n.6182C>T
n.6227C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211263A>CCA381936020MYO7Ac.6163A>C (p.Ser2055Arg)
c.3964A>C
c.6016A>C (p.Ser2006Arg)
c.3589A>C (p.Ser1197Arg)
c.6049A>C (p.Ser2017Arg)
n.3699A>C
n.25+352A>C
n.1630A>C
c.6046A>C (p.Ser2016Arg)
c.6154A>C (p.Ser2052Arg)
c.6157A>C (p.Ser2053Arg)
c.6130A>C (p.Ser2044Arg)
c.6067A>C (p.Ser2023Arg)
c.5938A>C (p.Ser1980Arg)
c.5926A>C (p.Ser1976Arg)
c.5899A>C (p.Ser1967Arg)
n.6483A>C
n.6457A>C
c.6253A>C (p.Ser2085Arg)
c.6247A>C (p.Ser2083Arg)
c.6244A>C (p.Ser2082Arg)
c.6139A>C (p.Ser2047Arg)
c.6136A>C (p.Ser2046Arg)
n.6242A>C
n.6183A>C
n.6228A>C
11g.77211263A>GCA381936018MYO7Ac.6163A>G (p.Ser2055Gly)
c.3964A>G
c.6016A>G (p.Ser2006Gly)
c.3589A>G (p.Ser1197Gly)
c.6049A>G (p.Ser2017Gly)
n.3699A>G
n.25+352A>G
n.1630A>G
c.6046A>G (p.Ser2016Gly)
c.6154A>G (p.Ser2052Gly)
c.6157A>G (p.Ser2053Gly)
c.6130A>G (p.Ser2044Gly)
c.6067A>G (p.Ser2023Gly)
c.5938A>G (p.Ser1980Gly)
c.5926A>G (p.Ser1976Gly)
c.5899A>G (p.Ser1967Gly)
n.6483A>G
n.6457A>G
c.6253A>G (p.Ser2085Gly)
c.6247A>G (p.Ser2083Gly)
c.6244A>G (p.Ser2082Gly)
c.6139A>G (p.Ser2047Gly)
c.6136A>G (p.Ser2046Gly)
n.6242A>G
n.6183A>G
n.6228A>G
11g.77211263A>TCA381936017MYO7Ac.6163A>T (p.Ser2055Cys)
c.3964A>T
c.6016A>T (p.Ser2006Cys)
c.3589A>T (p.Ser1197Cys)
c.6049A>T (p.Ser2017Cys)
n.3699A>T
n.25+352A>T
n.1630A>T
c.6046A>T (p.Ser2016Cys)
c.6154A>T (p.Ser2052Cys)
c.6157A>T (p.Ser2053Cys)
c.6130A>T (p.Ser2044Cys)
c.6067A>T (p.Ser2023Cys)
c.5938A>T (p.Ser1980Cys)
c.5926A>T (p.Ser1976Cys)
c.5899A>T (p.Ser1967Cys)
n.6483A>T
n.6457A>T
c.6253A>T (p.Ser2085Cys)
c.6247A>T (p.Ser2083Cys)
c.6244A>T (p.Ser2082Cys)
c.6139A>T (p.Ser2047Cys)
c.6136A>T (p.Ser2046Cys)
n.6242A>T
n.6183A>T
n.6228A>T
11g.77211264G>ACA381936025MYO7Ac.6164G>A (p.Ser2055Asn)
c.3965G>A
c.6017G>A (p.Ser2006Asn)
c.3590G>A (p.Ser1197Asn)
c.6050G>A (p.Ser2017Asn)
n.3700G>A
n.25+353G>A
n.1631G>A
c.6047G>A (p.Ser2016Asn)
c.6155G>A (p.Ser2052Asn)
c.6158G>A (p.Ser2053Asn)
c.6131G>A (p.Ser2044Asn)
c.6068G>A (p.Ser2023Asn)
c.5939G>A (p.Ser1980Asn)
c.5927G>A (p.Ser1976Asn)
c.5900G>A (p.Ser1967Asn)
n.6484G>A
n.6458G>A
c.6254G>A (p.Ser2085Asn)
c.6248G>A (p.Ser2083Asn)
c.6245G>A (p.Ser2082Asn)
c.6140G>A (p.Ser2047Asn)
c.6137G>A (p.Ser2046Asn)
n.6243G>A
n.6184G>A
n.6229G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77211264G>CCA381936022MYO7Ac.6164G>C (p.Ser2055Thr)
c.3965G>C
c.6017G>C (p.Ser2006Thr)
c.3590G>C (p.Ser1197Thr)
c.6050G>C (p.Ser2017Thr)
n.3700G>C
n.25+353G>C
n.1631G>C
c.6047G>C (p.Ser2016Thr)
c.6155G>C (p.Ser2052Thr)
c.6158G>C (p.Ser2053Thr)
c.6131G>C (p.Ser2044Thr)
c.6068G>C (p.Ser2023Thr)
c.5939G>C (p.Ser1980Thr)
c.5927G>C (p.Ser1976Thr)
c.5900G>C (p.Ser1967Thr)
n.6484G>C
n.6458G>C
c.6254G>C (p.Ser2085Thr)
c.6248G>C (p.Ser2083Thr)
c.6245G>C (p.Ser2082Thr)
c.6140G>C (p.Ser2047Thr)
c.6137G>C (p.Ser2046Thr)
n.6243G>C
n.6184G>C
n.6229G>C
11g.77211264G=CA1984129884MYO7Ac.6164G= (p.Ser2055=)
c.3965G=
c.6017G= (p.Ser2006=)
c.3590G= (p.Ser1197=)
c.6050G= (p.Ser2017=)
n.3700G=
n.25+353G=
n.1631G=
c.6047G= (p.Ser2016=)
c.6155G= (p.Ser2052=)
c.6158G= (p.Ser2053=)
c.6131G= (p.Ser2044=)
c.6068G= (p.Ser2023=)
c.5939G= (p.Ser1980=)
c.5927G= (p.Ser1976=)
c.5900G= (p.Ser1967=)
n.6484G=
n.6458G=
c.6254G= (p.Ser2085=)
c.6248G= (p.Ser2083=)
c.6245G= (p.Ser2082=)
c.6140G= (p.Ser2047=)
c.6137G= (p.Ser2046=)
n.6243G=
n.6184G=
n.6229G=
11g.77211264G>TCA381936027MYO7Ac.6164G>T (p.Ser2055Ile)
c.3965G>T
c.6017G>T (p.Ser2006Ile)
c.3590G>T (p.Ser1197Ile)
c.6050G>T (p.Ser2017Ile)
n.3700G>T
n.25+353G>T
n.1631G>T
c.6047G>T (p.Ser2016Ile)
c.6155G>T (p.Ser2052Ile)
c.6158G>T (p.Ser2053Ile)
c.6131G>T (p.Ser2044Ile)
c.6068G>T (p.Ser2023Ile)
c.5939G>T (p.Ser1980Ile)
c.5927G>T (p.Ser1976Ile)
c.5900G>T (p.Ser1967Ile)
n.6484G>T
n.6458G>T
c.6254G>T (p.Ser2085Ile)
c.6248G>T (p.Ser2083Ile)
c.6245G>T (p.Ser2082Ile)
c.6140G>T (p.Ser2047Ile)
c.6137G>T (p.Ser2046Ile)
n.6243G>T
n.6184G>T
n.6229G>T
 gnomAD v4
11g.77211265C>ACA381936030MYO7Ac.6165C>A (p.Ser2055Arg)
c.3966C>A
c.6018C>A (p.Ser2006Arg)
c.3591C>A (p.Ser1197Arg)
c.6051C>A (p.Ser2017Arg)
n.3701C>A
n.25+354C>A
n.1632C>A
c.6048C>A (p.Ser2016Arg)
c.6156C>A (p.Ser2052Arg)
c.6159C>A (p.Ser2053Arg)
c.6132C>A (p.Ser2044Arg)
c.6069C>A (p.Ser2023Arg)
c.5940C>A (p.Ser1980Arg)
c.5928C>A (p.Ser1976Arg)
c.5901C>A (p.Ser1967Arg)
n.6485C>A
n.6459C>A
c.6255C>A (p.Ser2085Arg)
c.6249C>A (p.Ser2083Arg)
c.6246C>A (p.Ser2082Arg)
c.6141C>A (p.Ser2047Arg)
c.6138C>A (p.Ser2046Arg)
n.6244C>A
n.6185C>A
n.6230C>A
 dbSNP gnomAD v4
11g.77211265C=CA1984129885MYO7Ac.6165C= (p.Ser2055=)
c.3966C=
c.6018C= (p.Ser2006=)
c.3591C= (p.Ser1197=)
c.6051C= (p.Ser2017=)
n.3701C=
n.25+354C=
n.1632C=
c.6048C= (p.Ser2016=)
c.6156C= (p.Ser2052=)
c.6159C= (p.Ser2053=)
c.6132C= (p.Ser2044=)
c.6069C= (p.Ser2023=)
c.5940C= (p.Ser1980=)
c.5928C= (p.Ser1976=)
c.5901C= (p.Ser1967=)
n.6485C=
n.6459C=
c.6255C= (p.Ser2085=)
c.6249C= (p.Ser2083=)
c.6246C= (p.Ser2082=)
c.6141C= (p.Ser2047=)
c.6138C= (p.Ser2046=)
n.6244C=
n.6185C=
n.6230C=
11g.77211265C>GCA381936033MYO7Ac.6165C>G (p.Ser2055Arg)
c.3966C>G
c.6018C>G (p.Ser2006Arg)
c.3591C>G (p.Ser1197Arg)
c.6051C>G (p.Ser2017Arg)
n.3701C>G
n.25+354C>G
n.1632C>G
c.6048C>G (p.Ser2016Arg)
c.6156C>G (p.Ser2052Arg)
c.6159C>G (p.Ser2053Arg)
c.6132C>G (p.Ser2044Arg)
c.6069C>G (p.Ser2023Arg)
c.5940C>G (p.Ser1980Arg)
c.5928C>G (p.Ser1976Arg)
c.5901C>G (p.Ser1967Arg)
n.6485C>G
n.6459C>G
c.6255C>G (p.Ser2085Arg)
c.6249C>G (p.Ser2083Arg)
c.6246C>G (p.Ser2082Arg)
c.6141C>G (p.Ser2047Arg)
c.6138C>G (p.Ser2046Arg)
n.6244C>G
n.6185C>G
n.6230C>G
11g.77211265C>TCA132420MYO7Ac.6165C>T (p.Ser2055=)
c.3966C>T
c.6018C>T (p.Ser2006=)
c.3591C>T (p.Ser1197=)
c.6051C>T (p.Ser2017=)
n.3701C>T
n.25+354C>T
n.1632C>T
c.6048C>T (p.Ser2016=)
c.6156C>T (p.Ser2052=)
c.6159C>T (p.Ser2053=)
c.6132C>T (p.Ser2044=)
c.6069C>T (p.Ser2023=)
c.5940C>T (p.Ser1980=)
c.5928C>T (p.Ser1976=)
c.5901C>T (p.Ser1967=)
n.6485C>T
n.6459C>T
c.6255C>T (p.Ser2085=)
c.6249C>T (p.Ser2083=)
c.6246C>T (p.Ser2082=)
c.6141C>T (p.Ser2047=)
c.6138C>T (p.Ser2046=)
n.6244C>T
n.6185C>T
n.6230C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211266A>CCA381936036MYO7Ac.6166A>C (p.Ile2056Leu)
c.3967A>C
c.6019A>C (p.Ile2007Leu)
c.3592A>C (p.Ile1198Leu)
c.6052A>C (p.Ile2018Leu)
n.3702A>C
n.25+355A>C
n.1633A>C
c.6049A>C (p.Ile2017Leu)
c.6157A>C (p.Ile2053Leu)
c.6160A>C (p.Ile2054Leu)
c.6133A>C (p.Ile2045Leu)
c.6070A>C (p.Ile2024Leu)
c.5941A>C (p.Ile1981Leu)
c.5929A>C (p.Ile1977Leu)
c.5902A>C (p.Ile1968Leu)
n.6486A>C
n.6460A>C
c.6256A>C (p.Ile2086Leu)
c.6250A>C (p.Ile2084Leu)
c.6247A>C (p.Ile2083Leu)
c.6142A>C (p.Ile2048Leu)
c.6139A>C (p.Ile2047Leu)
n.6245A>C
n.6186A>C
n.6231A>C
11g.77211266A>GCA381936038MYO7Ac.6166A>G (p.Ile2056Val)
c.3967A>G
c.6019A>G (p.Ile2007Val)
c.3592A>G (p.Ile1198Val)
c.6052A>G (p.Ile2018Val)
n.3702A>G
n.25+355A>G
n.1633A>G
c.6049A>G (p.Ile2017Val)
c.6157A>G (p.Ile2053Val)
c.6160A>G (p.Ile2054Val)
c.6133A>G (p.Ile2045Val)
c.6070A>G (p.Ile2024Val)
c.5941A>G (p.Ile1981Val)
c.5929A>G (p.Ile1977Val)
c.5902A>G (p.Ile1968Val)
n.6486A>G
n.6460A>G
c.6256A>G (p.Ile2086Val)
c.6250A>G (p.Ile2084Val)
c.6247A>G (p.Ile2083Val)
c.6142A>G (p.Ile2048Val)
c.6139A>G (p.Ile2047Val)
n.6245A>G
n.6186A>G
n.6231A>G
11g.77211266A>TCA381936041MYO7Ac.6166A>T (p.Ile2056Phe)
c.3967A>T
c.6019A>T (p.Ile2007Phe)
c.3592A>T (p.Ile1198Phe)
c.6052A>T (p.Ile2018Phe)
n.3702A>T
n.25+355A>T
n.1633A>T
c.6049A>T (p.Ile2017Phe)
c.6157A>T (p.Ile2053Phe)
c.6160A>T (p.Ile2054Phe)
c.6133A>T (p.Ile2045Phe)
c.6070A>T (p.Ile2024Phe)
c.5941A>T (p.Ile1981Phe)
c.5929A>T (p.Ile1977Phe)
c.5902A>T (p.Ile1968Phe)
n.6486A>T
n.6460A>T
c.6256A>T (p.Ile2086Phe)
c.6250A>T (p.Ile2084Phe)
c.6247A>T (p.Ile2083Phe)
c.6142A>T (p.Ile2048Phe)
c.6139A>T (p.Ile2047Phe)
n.6245A>T
n.6186A>T
n.6231A>T
11g.77211267T>ACA381936044MYO7Ac.6167T>A (p.Ile2056Asn)
c.3968T>A
c.6020T>A (p.Ile2007Asn)
c.3593T>A (p.Ile1198Asn)
c.6053T>A (p.Ile2018Asn)
n.3703T>A
n.25+356T>A
n.1634T>A
c.6050T>A (p.Ile2017Asn)
c.6158T>A (p.Ile2053Asn)
c.6161T>A (p.Ile2054Asn)
c.6134T>A (p.Ile2045Asn)
c.6071T>A (p.Ile2024Asn)
c.5942T>A (p.Ile1981Asn)
c.5930T>A (p.Ile1977Asn)
c.5903T>A (p.Ile1968Asn)
n.6487T>A
n.6461T>A
c.6257T>A (p.Ile2086Asn)
c.6251T>A (p.Ile2084Asn)
c.6248T>A (p.Ile2083Asn)
c.6143T>A (p.Ile2048Asn)
c.6140T>A (p.Ile2047Asn)
n.6246T>A
n.6187T>A
n.6232T>A
11g.77211267T>CCA381936045MYO7Ac.6167T>C (p.Ile2056Thr)
c.3968T>C
c.6020T>C (p.Ile2007Thr)
c.3593T>C (p.Ile1198Thr)
c.6053T>C (p.Ile2018Thr)
n.3703T>C
n.25+356T>C
n.1634T>C
c.6050T>C (p.Ile2017Thr)
c.6158T>C (p.Ile2053Thr)
c.6161T>C (p.Ile2054Thr)
c.6134T>C (p.Ile2045Thr)
c.6071T>C (p.Ile2024Thr)
c.5942T>C (p.Ile1981Thr)
c.5930T>C (p.Ile1977Thr)
c.5903T>C (p.Ile1968Thr)
n.6487T>C
n.6461T>C
c.6257T>C (p.Ile2086Thr)
c.6251T>C (p.Ile2084Thr)
c.6248T>C (p.Ile2083Thr)
c.6143T>C (p.Ile2048Thr)
c.6140T>C (p.Ile2047Thr)
n.6246T>C
n.6187T>C
n.6232T>C
11g.77211267T>GCA381936047MYO7Ac.6167T>G (p.Ile2056Ser)
c.3968T>G
c.6020T>G (p.Ile2007Ser)
c.3593T>G (p.Ile1198Ser)
c.6053T>G (p.Ile2018Ser)
n.3703T>G
n.25+356T>G
n.1634T>G
c.6050T>G (p.Ile2017Ser)
c.6158T>G (p.Ile2053Ser)
c.6161T>G (p.Ile2054Ser)
c.6134T>G (p.Ile2045Ser)
c.6071T>G (p.Ile2024Ser)
c.5942T>G (p.Ile1981Ser)
c.5930T>G (p.Ile1977Ser)
c.5903T>G (p.Ile1968Ser)
n.6487T>G
n.6461T>G
c.6257T>G (p.Ile2086Ser)
c.6251T>G (p.Ile2084Ser)
c.6248T>G (p.Ile2083Ser)
c.6143T>G (p.Ile2048Ser)
c.6140T>G (p.Ile2047Ser)
n.6246T>G
n.6187T>G
n.6232T>G
11g.77211268C>ACA475792001MYO7Ac.6168C>A (p.Ile2056=)
c.3969C>A
c.6021C>A (p.Ile2007=)
c.3594C>A (p.Ile1198=)
c.6054C>A (p.Ile2018=)
n.3704C>A
n.25+357C>A
n.1635C>A
c.6051C>A (p.Ile2017=)
c.6159C>A (p.Ile2053=)
c.6162C>A (p.Ile2054=)
c.6135C>A (p.Ile2045=)
c.6072C>A (p.Ile2024=)
c.5943C>A (p.Ile1981=)
c.5931C>A (p.Ile1977=)
c.5904C>A (p.Ile1968=)
n.6488C>A
n.6462C>A
c.6258C>A (p.Ile2086=)
c.6252C>A (p.Ile2084=)
c.6249C>A (p.Ile2083=)
c.6144C>A (p.Ile2048=)
c.6141C>A (p.Ile2047=)
n.6247C>A
n.6188C>A
n.6233C>A
 gnomAD v4
11g.77211268C>GCA381936049MYO7Ac.6168C>G (p.Ile2056Met)
c.3969C>G
c.6021C>G (p.Ile2007Met)
c.3594C>G (p.Ile1198Met)
c.6054C>G (p.Ile2018Met)
n.3704C>G
n.25+357C>G
n.1635C>G
c.6051C>G (p.Ile2017Met)
c.6159C>G (p.Ile2053Met)
c.6162C>G (p.Ile2054Met)
c.6135C>G (p.Ile2045Met)
c.6072C>G (p.Ile2024Met)
c.5943C>G (p.Ile1981Met)
c.5931C>G (p.Ile1977Met)
c.5904C>G (p.Ile1968Met)
n.6488C>G
n.6462C>G
c.6258C>G (p.Ile2086Met)
c.6252C>G (p.Ile2084Met)
c.6249C>G (p.Ile2083Met)
c.6144C>G (p.Ile2048Met)
c.6141C>G (p.Ile2047Met)
n.6247C>G
n.6188C>G
n.6233C>G
11g.77211268C>TCA475792002MYO7Ac.6168C>T (p.Ile2056=)
c.3969C>T
c.6021C>T (p.Ile2007=)
c.3594C>T (p.Ile1198=)
c.6054C>T (p.Ile2018=)
n.3704C>T
n.25+357C>T
n.1635C>T
c.6051C>T (p.Ile2017=)
c.6159C>T (p.Ile2053=)
c.6162C>T (p.Ile2054=)
c.6135C>T (p.Ile2045=)
c.6072C>T (p.Ile2024=)
c.5943C>T (p.Ile1981=)
c.5931C>T (p.Ile1977=)
c.5904C>T (p.Ile1968=)
n.6488C>T
n.6462C>T
c.6258C>T (p.Ile2086=)
c.6252C>T (p.Ile2084=)
c.6249C>T (p.Ile2083=)
c.6144C>T (p.Ile2048=)
c.6141C>T (p.Ile2047=)
n.6247C>T
n.6188C>T
n.6233C>T
 ClinVar gnomAD v4
11g.77211269C>ACA381936051MYO7Ac.6169C>A (p.Pro2057Thr)
c.3970C>A
c.6022C>A (p.Pro2008Thr)
c.3595C>A (p.Pro1199Thr)
c.6055C>A (p.Pro2019Thr)
n.3705C>A
n.25+358C>A
n.1636C>A
c.6052C>A (p.Pro2018Thr)
c.6160C>A (p.Pro2054Thr)
c.6163C>A (p.Pro2055Thr)
c.6136C>A (p.Pro2046Thr)
c.6073C>A (p.Pro2025Thr)
c.5944C>A (p.Pro1982Thr)
c.5932C>A (p.Pro1978Thr)
c.5905C>A (p.Pro1969Thr)
n.6489C>A
n.6463C>A
c.6259C>A (p.Pro2087Thr)
c.6253C>A (p.Pro2085Thr)
c.6250C>A (p.Pro2084Thr)
c.6145C>A (p.Pro2049Thr)
c.6142C>A (p.Pro2048Thr)
n.6248C>A
n.6189C>A
n.6234C>A
11g.77211269C=CA1984129886MYO7Ac.6169C= (p.Pro2057=)
c.3970C=
c.6022C= (p.Pro2008=)
c.3595C= (p.Pro1199=)
c.6055C= (p.Pro2019=)
n.3705C=
n.25+358C=
n.1636C=
c.6052C= (p.Pro2018=)
c.6160C= (p.Pro2054=)
c.6163C= (p.Pro2055=)
c.6136C= (p.Pro2046=)
c.6073C= (p.Pro2025=)
c.5944C= (p.Pro1982=)
c.5932C= (p.Pro1978=)
c.5905C= (p.Pro1969=)
n.6489C=
n.6463C=
c.6259C= (p.Pro2087=)
c.6253C= (p.Pro2085=)
c.6250C= (p.Pro2084=)
c.6145C= (p.Pro2049=)
c.6142C= (p.Pro2048=)
n.6248C=
n.6189C=
n.6234C=
11g.77211269C>GCA6198944MYO7Ac.6169C>G (p.Pro2057Ala)
c.3970C>G
c.6022C>G (p.Pro2008Ala)
c.3595C>G (p.Pro1199Ala)
c.6055C>G (p.Pro2019Ala)
n.3705C>G
n.25+358C>G
n.1636C>G
c.6052C>G (p.Pro2018Ala)
c.6160C>G (p.Pro2054Ala)
c.6163C>G (p.Pro2055Ala)
c.6136C>G (p.Pro2046Ala)
c.6073C>G (p.Pro2025Ala)
c.5944C>G (p.Pro1982Ala)
c.5932C>G (p.Pro1978Ala)
c.5905C>G (p.Pro1969Ala)
n.6489C>G
n.6463C>G
c.6259C>G (p.Pro2087Ala)
c.6253C>G (p.Pro2085Ala)
c.6250C>G (p.Pro2084Ala)
c.6145C>G (p.Pro2049Ala)
c.6142C>G (p.Pro2048Ala)
n.6248C>G
n.6189C>G
n.6234C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211269C>TCA381936055MYO7Ac.6169C>T (p.Pro2057Ser)
c.3970C>T
c.6022C>T (p.Pro2008Ser)
c.3595C>T (p.Pro1199Ser)
c.6055C>T (p.Pro2019Ser)
n.3705C>T
n.25+358C>T
n.1636C>T
c.6052C>T (p.Pro2018Ser)
c.6160C>T (p.Pro2054Ser)
c.6163C>T (p.Pro2055Ser)
c.6136C>T (p.Pro2046Ser)
c.6073C>T (p.Pro2025Ser)
c.5944C>T (p.Pro1982Ser)
c.5932C>T (p.Pro1978Ser)
c.5905C>T (p.Pro1969Ser)
n.6489C>T
n.6463C>T
c.6259C>T (p.Pro2087Ser)
c.6253C>T (p.Pro2085Ser)
c.6250C>T (p.Pro2084Ser)
c.6145C>T (p.Pro2049Ser)
c.6142C>T (p.Pro2048Ser)
n.6248C>T
n.6189C>T
n.6234C>T
11g.77211270C>ACA381936063MYO7Ac.6170C>A (p.Pro2057His)
c.3971C>A
c.6023C>A (p.Pro2008His)
c.3596C>A (p.Pro1199His)
c.6056C>A (p.Pro2019His)
n.3706C>A
n.25+359C>A
n.1637C>A
c.6053C>A (p.Pro2018His)
c.6161C>A (p.Pro2054His)
c.6164C>A (p.Pro2055His)
c.6137C>A (p.Pro2046His)
c.6074C>A (p.Pro2025His)
c.5945C>A (p.Pro1982His)
c.5933C>A (p.Pro1978His)
c.5906C>A (p.Pro1969His)
n.6490C>A
n.6464C>A
c.6260C>A (p.Pro2087His)
c.6254C>A (p.Pro2085His)
c.6251C>A (p.Pro2084His)
c.6146C>A (p.Pro2049His)
c.6143C>A (p.Pro2048His)
n.6249C>A
n.6190C>A
n.6235C>A
 gnomAD v4
11g.77211270C=CA1984129887MYO7Ac.6170C= (p.Pro2057=)
c.3971C=
c.6023C= (p.Pro2008=)
c.3596C= (p.Pro1199=)
c.6056C= (p.Pro2019=)
n.3706C=
n.25+359C=
n.1637C=
c.6053C= (p.Pro2018=)
c.6161C= (p.Pro2054=)
c.6164C= (p.Pro2055=)
c.6137C= (p.Pro2046=)
c.6074C= (p.Pro2025=)
c.5945C= (p.Pro1982=)
c.5933C= (p.Pro1978=)
c.5906C= (p.Pro1969=)
n.6490C=
n.6464C=
c.6260C= (p.Pro2087=)
c.6254C= (p.Pro2085=)
c.6251C= (p.Pro2084=)
c.6146C= (p.Pro2049=)
c.6143C= (p.Pro2048=)
n.6249C=
n.6190C=
n.6235C=
11g.77211270C>GCA381936059MYO7Ac.6170C>G (p.Pro2057Arg)
c.3971C>G
c.6023C>G (p.Pro2008Arg)
c.3596C>G (p.Pro1199Arg)
c.6056C>G (p.Pro2019Arg)
n.3706C>G
n.25+359C>G
n.1637C>G
c.6053C>G (p.Pro2018Arg)
c.6161C>G (p.Pro2054Arg)
c.6164C>G (p.Pro2055Arg)
c.6137C>G (p.Pro2046Arg)
c.6074C>G (p.Pro2025Arg)
c.5945C>G (p.Pro1982Arg)
c.5933C>G (p.Pro1978Arg)
c.5906C>G (p.Pro1969Arg)
n.6490C>G
n.6464C>G
c.6260C>G (p.Pro2087Arg)
c.6254C>G (p.Pro2085Arg)
c.6251C>G (p.Pro2084Arg)
c.6146C>G (p.Pro2049Arg)
c.6143C>G (p.Pro2048Arg)
n.6249C>G
n.6190C>G
n.6235C>G
11g.77211270C>TCA6198945MYO7Ac.6170C>T (p.Pro2057Leu)
c.3971C>T
c.6023C>T (p.Pro2008Leu)
c.3596C>T (p.Pro1199Leu)
c.6056C>T (p.Pro2019Leu)
n.3706C>T
n.25+359C>T
n.1637C>T
c.6053C>T (p.Pro2018Leu)
c.6161C>T (p.Pro2054Leu)
c.6164C>T (p.Pro2055Leu)
c.6137C>T (p.Pro2046Leu)
c.6074C>T (p.Pro2025Leu)
c.5945C>T (p.Pro1982Leu)
c.5933C>T (p.Pro1978Leu)
c.5906C>T (p.Pro1969Leu)
n.6490C>T
n.6464C>T
c.6260C>T (p.Pro2087Leu)
c.6254C>T (p.Pro2085Leu)
c.6251C>T (p.Pro2084Leu)
c.6146C>T (p.Pro2049Leu)
c.6143C>T (p.Pro2048Leu)
n.6249C>T
n.6190C>T
n.6235C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211271C>ACA475792003MYO7Ac.6171C>A (p.Pro2057=)
c.3972C>A
c.6024C>A (p.Pro2008=)
c.3597C>A (p.Pro1199=)
c.6057C>A (p.Pro2019=)
n.3707C>A
n.25+360C>A
n.1638C>A
c.6054C>A (p.Pro2018=)
c.6162C>A (p.Pro2054=)
c.6165C>A (p.Pro2055=)
c.6138C>A (p.Pro2046=)
c.6075C>A (p.Pro2025=)
c.5946C>A (p.Pro1982=)
c.5934C>A (p.Pro1978=)
c.5907C>A (p.Pro1969=)
n.6491C>A
n.6465C>A
c.6261C>A (p.Pro2087=)
c.6255C>A (p.Pro2085=)
c.6252C>A (p.Pro2084=)
c.6147C>A (p.Pro2049=)
c.6144C>A (p.Pro2048=)
n.6250C>A
n.6191C>A
n.6236C>A
 ClinVar dbSNP
11g.77211271C=CA1984129888MYO7Ac.6171C= (p.Pro2057=)
c.3972C=
c.6024C= (p.Pro2008=)
c.3597C= (p.Pro1199=)
c.6057C= (p.Pro2019=)
n.3707C=
n.25+360C=
n.1638C=
c.6054C= (p.Pro2018=)
c.6162C= (p.Pro2054=)
c.6165C= (p.Pro2055=)
c.6138C= (p.Pro2046=)
c.6075C= (p.Pro2025=)
c.5946C= (p.Pro1982=)
c.5934C= (p.Pro1978=)
c.5907C= (p.Pro1969=)
n.6491C=
n.6465C=
c.6261C= (p.Pro2087=)
c.6255C= (p.Pro2085=)
c.6252C= (p.Pro2084=)
c.6147C= (p.Pro2049=)
c.6144C= (p.Pro2048=)
n.6250C=
n.6191C=
n.6236C=
11g.77211271C>GCA475792005MYO7Ac.6171C>G (p.Pro2057=)
c.3972C>G
c.6024C>G (p.Pro2008=)
c.3597C>G (p.Pro1199=)
c.6057C>G (p.Pro2019=)
n.3707C>G
n.25+360C>G
n.1638C>G
c.6054C>G (p.Pro2018=)
c.6162C>G (p.Pro2054=)
c.6165C>G (p.Pro2055=)
c.6138C>G (p.Pro2046=)
c.6075C>G (p.Pro2025=)
c.5946C>G (p.Pro1982=)
c.5934C>G (p.Pro1978=)
c.5907C>G (p.Pro1969=)
n.6491C>G
n.6465C>G
c.6261C>G (p.Pro2087=)
c.6255C>G (p.Pro2085=)
c.6252C>G (p.Pro2084=)
c.6147C>G (p.Pro2049=)
c.6144C>G (p.Pro2048=)
n.6250C>G
n.6191C>G
n.6236C>G
11g.77211271C>TCA6198946MYO7Ac.6171C>T (p.Pro2057=)
c.3972C>T
c.6024C>T (p.Pro2008=)
c.3597C>T (p.Pro1199=)
c.6057C>T (p.Pro2019=)
n.3707C>T
n.25+360C>T
n.1638C>T
c.6054C>T (p.Pro2018=)
c.6162C>T (p.Pro2054=)
c.6165C>T (p.Pro2055=)
c.6138C>T (p.Pro2046=)
c.6075C>T (p.Pro2025=)
c.5946C>T (p.Pro1982=)
c.5934C>T (p.Pro1978=)
c.5907C>T (p.Pro1969=)
n.6491C>T
n.6465C>T
c.6261C>T (p.Pro2087=)
c.6255C>T (p.Pro2085=)
c.6252C>T (p.Pro2084=)
c.6147C>T (p.Pro2049=)
c.6144C>T (p.Pro2048=)
n.6250C>T
n.6191C>T
n.6236C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211272A>CCA381936067MYO7Ac.6172A>C (p.Lys2058Gln)
c.3973A>C
c.6025A>C (p.Lys2009Gln)
c.3598A>C (p.Lys1200Gln)
c.6058A>C (p.Lys2020Gln)
n.3708A>C
n.25+361A>C
n.1639A>C
c.6055A>C (p.Lys2019Gln)
c.6163A>C (p.Lys2055Gln)
c.6166A>C (p.Lys2056Gln)
c.6139A>C (p.Lys2047Gln)
c.6076A>C (p.Lys2026Gln)
c.5947A>C (p.Lys1983Gln)
c.5935A>C (p.Lys1979Gln)
c.5908A>C (p.Lys1970Gln)
n.6492A>C
n.6466A>C
c.6262A>C (p.Lys2088Gln)
c.6256A>C (p.Lys2086Gln)
c.6253A>C (p.Lys2085Gln)
c.6148A>C (p.Lys2050Gln)
c.6145A>C (p.Lys2049Gln)
n.6251A>C
n.6192A>C
n.6237A>C
11g.77211272A>GCA381936069MYO7Ac.6172A>G (p.Lys2058Glu)
c.3973A>G
c.6025A>G (p.Lys2009Glu)
c.3598A>G (p.Lys1200Glu)
c.6058A>G (p.Lys2020Glu)
n.3708A>G
n.25+361A>G
n.1639A>G
c.6055A>G (p.Lys2019Glu)
c.6163A>G (p.Lys2055Glu)
c.6166A>G (p.Lys2056Glu)
c.6139A>G (p.Lys2047Glu)
c.6076A>G (p.Lys2026Glu)
c.5947A>G (p.Lys1983Glu)
c.5935A>G (p.Lys1979Glu)
c.5908A>G (p.Lys1970Glu)
n.6492A>G
n.6466A>G
c.6262A>G (p.Lys2088Glu)
c.6256A>G (p.Lys2086Glu)
c.6253A>G (p.Lys2085Glu)
c.6148A>G (p.Lys2050Glu)
c.6145A>G (p.Lys2049Glu)
n.6251A>G
n.6192A>G
n.6237A>G
11g.77211272A>TCA381936071MYO7Ac.6172A>T (p.Lys2058Ter)
c.3973A>T
c.6025A>T (p.Lys2009Ter)
c.3598A>T (p.Lys1200Ter)
c.6058A>T (p.Lys2020Ter)
n.3708A>T
n.25+361A>T
n.1639A>T
c.6055A>T (p.Lys2019Ter)
c.6163A>T (p.Lys2055Ter)
c.6166A>T (p.Lys2056Ter)
c.6139A>T (p.Lys2047Ter)
c.6076A>T (p.Lys2026Ter)
c.5947A>T (p.Lys1983Ter)
c.5935A>T (p.Lys1979Ter)
c.5908A>T (p.Lys1970Ter)
n.6492A>T
n.6466A>T
c.6262A>T (p.Lys2088Ter)
c.6256A>T (p.Lys2086Ter)
c.6253A>T (p.Lys2085Ter)
c.6148A>T (p.Lys2050Ter)
c.6145A>T (p.Lys2049Ter)
n.6251A>T
n.6192A>T
n.6237A>T
11g.77211273A=CA1984129889MYO7Ac.6173A= (p.Lys2058=)
c.3974A=
c.6026A= (p.Lys2009=)
c.3599A= (p.Lys1200=)
c.6059A= (p.Lys2020=)
n.3709A=
n.25+362A=
n.1640A=
c.6056A= (p.Lys2019=)
c.6164A= (p.Lys2055=)
c.6167A= (p.Lys2056=)
c.6140A= (p.Lys2047=)
c.6077A= (p.Lys2026=)
c.5948A= (p.Lys1983=)
c.5936A= (p.Lys1979=)
c.5909A= (p.Lys1970=)
n.6493A=
n.6467A=
c.6263A= (p.Lys2088=)
c.6257A= (p.Lys2086=)
c.6254A= (p.Lys2085=)
c.6149A= (p.Lys2050=)
c.6146A= (p.Lys2049=)
n.6252A=
n.6193A=
n.6238A=
11g.77211273A>CCA381936074MYO7Ac.6173A>C (p.Lys2058Thr)
c.3974A>C
c.6026A>C (p.Lys2009Thr)
c.3599A>C (p.Lys1200Thr)
c.6059A>C (p.Lys2020Thr)
n.3709A>C
n.25+362A>C
n.1640A>C
c.6056A>C (p.Lys2019Thr)
c.6164A>C (p.Lys2055Thr)
c.6167A>C (p.Lys2056Thr)
c.6140A>C (p.Lys2047Thr)
c.6077A>C (p.Lys2026Thr)
c.5948A>C (p.Lys1983Thr)
c.5936A>C (p.Lys1979Thr)
c.5909A>C (p.Lys1970Thr)
n.6493A>C
n.6467A>C
c.6263A>C (p.Lys2088Thr)
c.6257A>C (p.Lys2086Thr)
c.6254A>C (p.Lys2085Thr)
c.6149A>C (p.Lys2050Thr)
c.6146A>C (p.Lys2049Thr)
n.6252A>C
n.6193A>C
n.6238A>C
11g.77211273A>GCA132422MYO7Ac.6173A>G (p.Lys2058Arg)
c.3974A>G
c.6026A>G (p.Lys2009Arg)
c.3599A>G (p.Lys1200Arg)
c.6059A>G (p.Lys2020Arg)
n.3709A>G
n.25+362A>G
n.1640A>G
c.6056A>G (p.Lys2019Arg)
c.6164A>G (p.Lys2055Arg)
c.6167A>G (p.Lys2056Arg)
c.6140A>G (p.Lys2047Arg)
c.6077A>G (p.Lys2026Arg)
c.5948A>G (p.Lys1983Arg)
c.5936A>G (p.Lys1979Arg)
c.5909A>G (p.Lys1970Arg)
n.6493A>G
n.6467A>G
c.6263A>G (p.Lys2088Arg)
c.6257A>G (p.Lys2086Arg)
c.6254A>G (p.Lys2085Arg)
c.6149A>G (p.Lys2050Arg)
c.6146A>G (p.Lys2049Arg)
n.6252A>G
n.6193A>G
n.6238A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211273A>TCA381936077MYO7Ac.6173A>T (p.Lys2058Met)
c.3974A>T
c.6026A>T (p.Lys2009Met)
c.3599A>T (p.Lys1200Met)
c.6059A>T (p.Lys2020Met)
n.3709A>T
n.25+362A>T
n.1640A>T
c.6056A>T (p.Lys2019Met)
c.6164A>T (p.Lys2055Met)
c.6167A>T (p.Lys2056Met)
c.6140A>T (p.Lys2047Met)
c.6077A>T (p.Lys2026Met)
c.5948A>T (p.Lys1983Met)
c.5936A>T (p.Lys1979Met)
c.5909A>T (p.Lys1970Met)
n.6493A>T
n.6467A>T
c.6263A>T (p.Lys2088Met)
c.6257A>T (p.Lys2086Met)
c.6254A>T (p.Lys2085Met)
c.6149A>T (p.Lys2050Met)
c.6146A>T (p.Lys2049Met)
n.6252A>T
n.6193A>T
n.6238A>T
11g.77211274G>ACA475792007MYO7Ac.6174G>A (p.Lys2058=)
c.3975G>A
c.6027G>A (p.Lys2009=)
c.3600G>A (p.Lys1200=)
c.6060G>A (p.Lys2020=)
n.3710G>A
n.25+363G>A
n.1641G>A
c.6057G>A (p.Lys2019=)
c.6165G>A (p.Lys2055=)
c.6168G>A (p.Lys2056=)
c.6141G>A (p.Lys2047=)
c.6078G>A (p.Lys2026=)
c.5949G>A (p.Lys1983=)
c.5937G>A (p.Lys1979=)
c.5910G>A (p.Lys1970=)
n.6494G>A
n.6468G>A
c.6264G>A (p.Lys2088=)
c.6258G>A (p.Lys2086=)
c.6255G>A (p.Lys2085=)
c.6150G>A (p.Lys2050=)
c.6147G>A (p.Lys2049=)
n.6253G>A
n.6194G>A
n.6239G>A
 ClinVar dbSNP
11g.77211274G>CCA381936080MYO7Ac.6174G>C (p.Lys2058Asn)
c.3975G>C
c.6027G>C (p.Lys2009Asn)
c.3600G>C (p.Lys1200Asn)
c.6060G>C (p.Lys2020Asn)
n.3710G>C
n.25+363G>C
n.1641G>C
c.6057G>C (p.Lys2019Asn)
c.6165G>C (p.Lys2055Asn)
c.6168G>C (p.Lys2056Asn)
c.6141G>C (p.Lys2047Asn)
c.6078G>C (p.Lys2026Asn)
c.5949G>C (p.Lys1983Asn)
c.5937G>C (p.Lys1979Asn)
c.5910G>C (p.Lys1970Asn)
n.6494G>C
n.6468G>C
c.6264G>C (p.Lys2088Asn)
c.6258G>C (p.Lys2086Asn)
c.6255G>C (p.Lys2085Asn)
c.6150G>C (p.Lys2050Asn)
c.6147G>C (p.Lys2049Asn)
n.6253G>C
n.6194G>C
n.6239G>C
11g.77211274G>TCA381936081MYO7Ac.6174G>T (p.Lys2058Asn)
c.3975G>T
c.6027G>T (p.Lys2009Asn)
c.3600G>T (p.Lys1200Asn)
c.6060G>T (p.Lys2020Asn)
n.3710G>T
n.25+363G>T
n.1641G>T
c.6057G>T (p.Lys2019Asn)
c.6165G>T (p.Lys2055Asn)
c.6168G>T (p.Lys2056Asn)
c.6141G>T (p.Lys2047Asn)
c.6078G>T (p.Lys2026Asn)
c.5949G>T (p.Lys1983Asn)
c.5937G>T (p.Lys1979Asn)
c.5910G>T (p.Lys1970Asn)
n.6494G>T
n.6468G>T
c.6264G>T (p.Lys2088Asn)
c.6258G>T (p.Lys2086Asn)
c.6255G>T (p.Lys2085Asn)
c.6150G>T (p.Lys2050Asn)
c.6147G>T (p.Lys2049Asn)
n.6253G>T
n.6194G>T
n.6239G>T
 gnomAD v4
11g.77211275C>ACA381936083MYO7Ac.6175C>A (p.Leu2059Met)
c.3976C>A
c.6028C>A (p.Leu2010Met)
c.3601C>A (p.Leu1201Met)
c.6061C>A (p.Leu2021Met)
n.3711C>A
n.25+364C>A
n.1642C>A
c.6058C>A (p.Leu2020Met)
c.6166C>A (p.Leu2056Met)
c.6169C>A (p.Leu2057Met)
c.6142C>A (p.Leu2048Met)
c.6079C>A (p.Leu2027Met)
c.5950C>A (p.Leu1984Met)
c.5938C>A (p.Leu1980Met)
c.5911C>A (p.Leu1971Met)
n.6495C>A
n.6469C>A
c.6265C>A (p.Leu2089Met)
c.6259C>A (p.Leu2087Met)
c.6256C>A (p.Leu2086Met)
c.6151C>A (p.Leu2051Met)
c.6148C>A (p.Leu2050Met)
n.6254C>A
n.6195C>A
n.6240C>A
 gnomAD v4
11g.77211275C=CA1984129890MYO7Ac.6175C= (p.Leu2059=)
c.3976C=
c.6028C= (p.Leu2010=)
c.3601C= (p.Leu1201=)
c.6061C= (p.Leu2021=)
n.3711C=
n.25+364C=
n.1642C=
c.6058C= (p.Leu2020=)
c.6166C= (p.Leu2056=)
c.6169C= (p.Leu2057=)
c.6142C= (p.Leu2048=)
c.6079C= (p.Leu2027=)
c.5950C= (p.Leu1984=)
c.5938C= (p.Leu1980=)
c.5911C= (p.Leu1971=)
n.6495C=
n.6469C=
c.6265C= (p.Leu2089=)
c.6259C= (p.Leu2087=)
c.6256C= (p.Leu2086=)
c.6151C= (p.Leu2051=)
c.6148C= (p.Leu2050=)
n.6254C=
n.6195C=
n.6240C=
11g.77211275C>GCA381936085MYO7Ac.6175C>G (p.Leu2059Val)
c.3976C>G
c.6028C>G (p.Leu2010Val)
c.3601C>G (p.Leu1201Val)
c.6061C>G (p.Leu2021Val)
n.3711C>G
n.25+364C>G
n.1642C>G
c.6058C>G (p.Leu2020Val)
c.6166C>G (p.Leu2056Val)
c.6169C>G (p.Leu2057Val)
c.6142C>G (p.Leu2048Val)
c.6079C>G (p.Leu2027Val)
c.5950C>G (p.Leu1984Val)
c.5938C>G (p.Leu1980Val)
c.5911C>G (p.Leu1971Val)
n.6495C>G
n.6469C>G
c.6265C>G (p.Leu2089Val)
c.6259C>G (p.Leu2087Val)
c.6256C>G (p.Leu2086Val)
c.6151C>G (p.Leu2051Val)
c.6148C>G (p.Leu2050Val)
n.6254C>G
n.6195C>G
n.6240C>G
 dbSNP
11g.77211275C>TCA475792008MYO7Ac.6175C>T (p.Leu2059=)
c.3976C>T
c.6028C>T (p.Leu2010=)
c.3601C>T (p.Leu1201=)
c.6061C>T (p.Leu2021=)
n.3711C>T
n.25+364C>T
n.1642C>T
c.6058C>T (p.Leu2020=)
c.6166C>T (p.Leu2056=)
c.6169C>T (p.Leu2057=)
c.6142C>T (p.Leu2048=)
c.6079C>T (p.Leu2027=)
c.5950C>T (p.Leu1984=)
c.5938C>T (p.Leu1980=)
c.5911C>T (p.Leu1971=)
n.6495C>T
n.6469C>T
c.6265C>T (p.Leu2089=)
c.6259C>T (p.Leu2087=)
c.6256C>T (p.Leu2086=)
c.6151C>T (p.Leu2051=)
c.6148C>T (p.Leu2050=)
n.6254C>T
n.6195C>T
n.6240C>T
 dbSNP
11g.77211276T>ACA381936093MYO7Ac.6176T>A (p.Leu2059Gln)
c.3977T>A
c.6029T>A (p.Leu2010Gln)
c.3602T>A (p.Leu1201Gln)
c.6062T>A (p.Leu2021Gln)
n.3712T>A
n.25+365T>A
n.1643T>A
c.6059T>A (p.Leu2020Gln)
c.6167T>A (p.Leu2056Gln)
c.6170T>A (p.Leu2057Gln)
c.6143T>A (p.Leu2048Gln)
c.6080T>A (p.Leu2027Gln)
c.5951T>A (p.Leu1984Gln)
c.5939T>A (p.Leu1980Gln)
c.5912T>A (p.Leu1971Gln)
n.6496T>A
n.6470T>A
c.6266T>A (p.Leu2089Gln)
c.6260T>A (p.Leu2087Gln)
c.6257T>A (p.Leu2086Gln)
c.6152T>A (p.Leu2051Gln)
c.6149T>A (p.Leu2050Gln)
n.6255T>A
n.6196T>A
n.6241T>A
11g.77211276T>CCA381936091MYO7Ac.6176T>C (p.Leu2059Pro)
c.3977T>C
c.6029T>C (p.Leu2010Pro)
c.3602T>C (p.Leu1201Pro)
c.6062T>C (p.Leu2021Pro)
n.3712T>C
n.25+365T>C
n.1643T>C
c.6059T>C (p.Leu2020Pro)
c.6167T>C (p.Leu2056Pro)
c.6170T>C (p.Leu2057Pro)
c.6143T>C (p.Leu2048Pro)
c.6080T>C (p.Leu2027Pro)
c.5951T>C (p.Leu1984Pro)
c.5939T>C (p.Leu1980Pro)
c.5912T>C (p.Leu1971Pro)
n.6496T>C
n.6470T>C
c.6266T>C (p.Leu2089Pro)
c.6260T>C (p.Leu2087Pro)
c.6257T>C (p.Leu2086Pro)
c.6152T>C (p.Leu2051Pro)
c.6149T>C (p.Leu2050Pro)
n.6255T>C
n.6196T>C
n.6241T>C
 gnomAD v4
11g.77211276T>GCA381936088MYO7Ac.6176T>G (p.Leu2059Arg)
c.3977T>G
c.6029T>G (p.Leu2010Arg)
c.3602T>G (p.Leu1201Arg)
c.6062T>G (p.Leu2021Arg)
n.3712T>G
n.25+365T>G
n.1643T>G
c.6059T>G (p.Leu2020Arg)
c.6167T>G (p.Leu2056Arg)
c.6170T>G (p.Leu2057Arg)
c.6143T>G (p.Leu2048Arg)
c.6080T>G (p.Leu2027Arg)
c.5951T>G (p.Leu1984Arg)
c.5939T>G (p.Leu1980Arg)
c.5912T>G (p.Leu1971Arg)
n.6496T>G
n.6470T>G
c.6266T>G (p.Leu2089Arg)
c.6260T>G (p.Leu2087Arg)
c.6257T>G (p.Leu2086Arg)
c.6152T>G (p.Leu2051Arg)
c.6149T>G (p.Leu2050Arg)
n.6255T>G
n.6196T>G
n.6241T>G
11g.77211277G>ACA475792011MYO7Ac.6177G>A (p.Leu2059=)
c.3978G>A
c.6030G>A (p.Leu2010=)
c.3603G>A (p.Leu1201=)
c.6063G>A (p.Leu2021=)
n.3713G>A
n.25+366G>A
n.1644G>A
c.6060G>A (p.Leu2020=)
c.6168G>A (p.Leu2056=)
c.6171G>A (p.Leu2057=)
c.6144G>A (p.Leu2048=)
c.6081G>A (p.Leu2027=)
c.5952G>A (p.Leu1984=)
c.5940G>A (p.Leu1980=)
c.5913G>A (p.Leu1971=)
n.6497G>A
n.6471G>A
c.6267G>A (p.Leu2089=)
c.6261G>A (p.Leu2087=)
c.6258G>A (p.Leu2086=)
c.6153G>A (p.Leu2051=)
c.6150G>A (p.Leu2050=)
n.6256G>A
n.6197G>A
n.6242G>A
 gnomAD v4
11g.77211277G>CCA475792013MYO7Ac.6177G>C (p.Leu2059=)
c.3978G>C
c.6030G>C (p.Leu2010=)
c.3603G>C (p.Leu1201=)
c.6063G>C (p.Leu2021=)
n.3713G>C
n.25+366G>C
n.1644G>C
c.6060G>C (p.Leu2020=)
c.6168G>C (p.Leu2056=)
c.6171G>C (p.Leu2057=)
c.6144G>C (p.Leu2048=)
c.6081G>C (p.Leu2027=)
c.5952G>C (p.Leu1984=)
c.5940G>C (p.Leu1980=)
c.5913G>C (p.Leu1971=)
n.6497G>C
n.6471G>C
c.6267G>C (p.Leu2089=)
c.6261G>C (p.Leu2087=)
c.6258G>C (p.Leu2086=)
c.6153G>C (p.Leu2051=)
c.6150G>C (p.Leu2050=)
n.6256G>C
n.6197G>C
n.6242G>C
 gnomAD v4
11g.77211277G>TCA475792014MYO7Ac.6177G>T (p.Leu2059=)
c.3978G>T
c.6030G>T (p.Leu2010=)
c.3603G>T (p.Leu1201=)
c.6063G>T (p.Leu2021=)
n.3713G>T
n.25+366G>T
n.1644G>T
c.6060G>T (p.Leu2020=)
c.6168G>T (p.Leu2056=)
c.6171G>T (p.Leu2057=)
c.6144G>T (p.Leu2048=)
c.6081G>T (p.Leu2027=)
c.5952G>T (p.Leu1984=)
c.5940G>T (p.Leu1980=)
c.5913G>T (p.Leu1971=)
n.6497G>T
n.6471G>T
c.6267G>T (p.Leu2089=)
c.6261G>T (p.Leu2087=)
c.6258G>T (p.Leu2086=)
c.6153G>T (p.Leu2051=)
c.6150G>T (p.Leu2050=)
n.6256G>T
n.6197G>T
n.6242G>T
 gnomAD v4
11g.77211278C>ACA381936097MYO7Ac.6178C>A (p.Leu2060Met)
c.3979C>A
c.6031C>A (p.Leu2011Met)
c.3604C>A (p.Leu1202Met)
c.6064C>A (p.Leu2022Met)
n.3714C>A
n.25+367C>A
n.1645C>A
c.6061C>A (p.Leu2021Met)
c.6169C>A (p.Leu2057Met)
c.6172C>A (p.Leu2058Met)
c.6145C>A (p.Leu2049Met)
c.6082C>A (p.Leu2028Met)
c.5953C>A (p.Leu1985Met)
c.5941C>A (p.Leu1981Met)
c.5914C>A (p.Leu1972Met)
n.6498C>A
n.6472C>A
c.6268C>A (p.Leu2090Met)
c.6262C>A (p.Leu2088Met)
c.6259C>A (p.Leu2087Met)
c.6154C>A (p.Leu2052Met)
c.6151C>A (p.Leu2051Met)
n.6257C>A
n.6198C>A
n.6243C>A
11g.77211278C>GCA381936099MYO7Ac.6178C>G (p.Leu2060Val)
c.3979C>G
c.6031C>G (p.Leu2011Val)
c.3604C>G (p.Leu1202Val)
c.6064C>G (p.Leu2022Val)
n.3714C>G
n.25+367C>G
n.1645C>G
c.6061C>G (p.Leu2021Val)
c.6169C>G (p.Leu2057Val)
c.6172C>G (p.Leu2058Val)
c.6145C>G (p.Leu2049Val)
c.6082C>G (p.Leu2028Val)
c.5953C>G (p.Leu1985Val)
c.5941C>G (p.Leu1981Val)
c.5914C>G (p.Leu1972Val)
n.6498C>G
n.6472C>G
c.6268C>G (p.Leu2090Val)
c.6262C>G (p.Leu2088Val)
c.6259C>G (p.Leu2087Val)
c.6154C>G (p.Leu2052Val)
c.6151C>G (p.Leu2051Val)
n.6257C>G
n.6198C>G
n.6243C>G
11g.77211278C>TCA475792015MYO7Ac.6178C>T (p.Leu2060=)
c.3979C>T
c.6031C>T (p.Leu2011=)
c.3604C>T (p.Leu1202=)
c.6064C>T (p.Leu2022=)
n.3714C>T
n.25+367C>T
n.1645C>T
c.6061C>T (p.Leu2021=)
c.6169C>T (p.Leu2057=)
c.6172C>T (p.Leu2058=)
c.6145C>T (p.Leu2049=)
c.6082C>T (p.Leu2028=)
c.5953C>T (p.Leu1985=)
c.5941C>T (p.Leu1981=)
c.5914C>T (p.Leu1972=)
n.6498C>T
n.6472C>T
c.6268C>T (p.Leu2090=)
c.6262C>T (p.Leu2088=)
c.6259C>T (p.Leu2087=)
c.6154C>T (p.Leu2052=)
c.6151C>T (p.Leu2051=)
n.6257C>T
n.6198C>T
n.6243C>T
 gnomAD v4
11g.77211279T>ACA381936101MYO7Ac.6179T>A (p.Leu2060Gln)
c.3980T>A
c.6032T>A (p.Leu2011Gln)
c.3605T>A (p.Leu1202Gln)
c.6065T>A (p.Leu2022Gln)
n.3715T>A
n.25+368T>A
n.1646T>A
c.6062T>A (p.Leu2021Gln)
c.6170T>A (p.Leu2057Gln)
c.6173T>A (p.Leu2058Gln)
c.6146T>A (p.Leu2049Gln)
c.6083T>A (p.Leu2028Gln)
c.5954T>A (p.Leu1985Gln)
c.5942T>A (p.Leu1981Gln)
c.5915T>A (p.Leu1972Gln)
n.6499T>A
n.6473T>A
c.6269T>A (p.Leu2090Gln)
c.6263T>A (p.Leu2088Gln)
c.6260T>A (p.Leu2087Gln)
c.6155T>A (p.Leu2052Gln)
c.6152T>A (p.Leu2051Gln)
n.6258T>A
n.6199T>A
n.6244T>A
11g.77211279T>CCA381936103MYO7Ac.6179T>C (p.Leu2060Pro)
c.3980T>C
c.6032T>C (p.Leu2011Pro)
c.3605T>C (p.Leu1202Pro)
c.6065T>C (p.Leu2022Pro)
n.3715T>C
n.25+368T>C
n.1646T>C
c.6062T>C (p.Leu2021Pro)
c.6170T>C (p.Leu2057Pro)
c.6173T>C (p.Leu2058Pro)
c.6146T>C (p.Leu2049Pro)
c.6083T>C (p.Leu2028Pro)
c.5954T>C (p.Leu1985Pro)
c.5942T>C (p.Leu1981Pro)
c.5915T>C (p.Leu1972Pro)
n.6499T>C
n.6473T>C
c.6269T>C (p.Leu2090Pro)
c.6263T>C (p.Leu2088Pro)
c.6260T>C (p.Leu2087Pro)
c.6155T>C (p.Leu2052Pro)
c.6152T>C (p.Leu2051Pro)
n.6258T>C
n.6199T>C
n.6244T>C
11g.77211279T>GCA381936105MYO7Ac.6179T>G (p.Leu2060Arg)
c.3980T>G
c.6032T>G (p.Leu2011Arg)
c.3605T>G (p.Leu1202Arg)
c.6065T>G (p.Leu2022Arg)
n.3715T>G
n.25+368T>G
n.1646T>G
c.6062T>G (p.Leu2021Arg)
c.6170T>G (p.Leu2057Arg)
c.6173T>G (p.Leu2058Arg)
c.6146T>G (p.Leu2049Arg)
c.6083T>G (p.Leu2028Arg)
c.5954T>G (p.Leu1985Arg)
c.5942T>G (p.Leu1981Arg)
c.5915T>G (p.Leu1972Arg)
n.6499T>G
n.6473T>G
c.6269T>G (p.Leu2090Arg)
c.6263T>G (p.Leu2088Arg)
c.6260T>G (p.Leu2087Arg)
c.6155T>G (p.Leu2052Arg)
c.6152T>G (p.Leu2051Arg)
n.6258T>G
n.6199T>G
n.6244T>G
11g.77211280G>ACA475792017MYO7Ac.6180G>A (p.Leu2060=)
c.3981G>A
c.6033G>A (p.Leu2011=)
c.3606G>A (p.Leu1202=)
c.6066G>A (p.Leu2022=)
n.3716G>A
n.25+369G>A
n.1647G>A
c.6063G>A (p.Leu2021=)
c.6171G>A (p.Leu2057=)
c.6174G>A (p.Leu2058=)
c.6147G>A (p.Leu2049=)
c.6084G>A (p.Leu2028=)
c.5955G>A (p.Leu1985=)
c.5943G>A (p.Leu1981=)
c.5916G>A (p.Leu1972=)
n.6500G>A
n.6474G>A
c.6270G>A (p.Leu2090=)
c.6264G>A (p.Leu2088=)
c.6261G>A (p.Leu2087=)
c.6156G>A (p.Leu2052=)
c.6153G>A (p.Leu2051=)
n.6259G>A
n.6200G>A
n.6245G>A
 gnomAD v4
11g.77211280G>CCA475792018MYO7Ac.6180G>C (p.Leu2060=)
c.3981G>C
c.6033G>C (p.Leu2011=)
c.3606G>C (p.Leu1202=)
c.6066G>C (p.Leu2022=)
n.3716G>C
n.25+369G>C
n.1647G>C
c.6063G>C (p.Leu2021=)
c.6171G>C (p.Leu2057=)
c.6174G>C (p.Leu2058=)
c.6147G>C (p.Leu2049=)
c.6084G>C (p.Leu2028=)
c.5955G>C (p.Leu1985=)
c.5943G>C (p.Leu1981=)
c.5916G>C (p.Leu1972=)
n.6500G>C
n.6474G>C
c.6270G>C (p.Leu2090=)
c.6264G>C (p.Leu2088=)
c.6261G>C (p.Leu2087=)
c.6156G>C (p.Leu2052=)
c.6153G>C (p.Leu2051=)
n.6259G>C
n.6200G>C
n.6245G>C
11g.77211280G=CA1984129891MYO7Ac.6180G= (p.Leu2060=)
c.3981G=
c.6033G= (p.Leu2011=)
c.3606G= (p.Leu1202=)
c.6066G= (p.Leu2022=)
n.3716G=
n.25+369G=
n.1647G=
c.6063G= (p.Leu2021=)
c.6171G= (p.Leu2057=)
c.6174G= (p.Leu2058=)
c.6147G= (p.Leu2049=)
c.6084G= (p.Leu2028=)
c.5955G= (p.Leu1985=)
c.5943G= (p.Leu1981=)
c.5916G= (p.Leu1972=)
n.6500G=
n.6474G=
c.6270G= (p.Leu2090=)
c.6264G= (p.Leu2088=)
c.6261G= (p.Leu2087=)
c.6156G= (p.Leu2052=)
c.6153G= (p.Leu2051=)
n.6259G=
n.6200G=
n.6245G=
11g.77211280G>TCA475792020MYO7Ac.6180G>T (p.Leu2060=)
c.3981G>T
c.6033G>T (p.Leu2011=)
c.3606G>T (p.Leu1202=)
c.6066G>T (p.Leu2022=)
n.3716G>T
n.25+369G>T
n.1647G>T
c.6063G>T (p.Leu2021=)
c.6171G>T (p.Leu2057=)
c.6174G>T (p.Leu2058=)
c.6147G>T (p.Leu2049=)
c.6084G>T (p.Leu2028=)
c.5955G>T (p.Leu1985=)
c.5943G>T (p.Leu1981=)
c.5916G>T (p.Leu1972=)
n.6500G>T
n.6474G>T
c.6270G>T (p.Leu2090=)
c.6264G>T (p.Leu2088=)
c.6261G>T (p.Leu2087=)
c.6156G>T (p.Leu2052=)
c.6153G>T (p.Leu2051=)
n.6259G>T
n.6200G>T
n.6245G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77211281C>ACA475792021MYO7Ac.6181C>A (p.Arg2061=)
c.3982C>A
c.6034C>A (p.Arg2012=)
c.3607C>A (p.Arg1203=)
c.6067C>A (p.Arg2023=)
n.3717C>A
n.25+370C>A
n.1648C>A
c.6064C>A (p.Arg2022=)
c.6172C>A (p.Arg2058=)
c.6175C>A (p.Arg2059=)
c.6148C>A (p.Arg2050=)
c.6085C>A (p.Arg2029=)
c.5956C>A (p.Arg1986=)
c.5944C>A (p.Arg1982=)
c.5917C>A (p.Arg1973=)
n.6501C>A
n.6475C>A
c.6271C>A (p.Arg2091=)
c.6265C>A (p.Arg2089=)
c.6262C>A (p.Arg2088=)
c.6157C>A (p.Arg2053=)
c.6154C>A (p.Arg2052=)
n.6260C>A
n.6201C>A
n.6246C>A
 dbSNP gnomAD v2 gnomAD v4
11g.77211281C=CA1984129892MYO7Ac.6181C= (p.Arg2061=)
c.3982C=
c.6034C= (p.Arg2012=)
c.3607C= (p.Arg1203=)
c.6067C= (p.Arg2023=)
n.3717C=
n.25+370C=
n.1648C=
c.6064C= (p.Arg2022=)
c.6172C= (p.Arg2058=)
c.6175C= (p.Arg2059=)
c.6148C= (p.Arg2050=)
c.6085C= (p.Arg2029=)
c.5956C= (p.Arg1986=)
c.5944C= (p.Arg1982=)
c.5917C= (p.Arg1973=)
n.6501C=
n.6475C=
c.6271C= (p.Arg2091=)
c.6265C= (p.Arg2089=)
c.6262C= (p.Arg2088=)
c.6157C= (p.Arg2053=)
c.6154C= (p.Arg2052=)
n.6260C=
n.6201C=
n.6246C=
11g.77211281C>GCA381936107MYO7Ac.6181C>G (p.Arg2061Gly)
c.3982C>G
c.6034C>G (p.Arg2012Gly)
c.3607C>G (p.Arg1203Gly)
c.6067C>G (p.Arg2023Gly)
n.3717C>G
n.25+370C>G
n.1648C>G
c.6064C>G (p.Arg2022Gly)
c.6172C>G (p.Arg2058Gly)
c.6175C>G (p.Arg2059Gly)
c.6148C>G (p.Arg2050Gly)
c.6085C>G (p.Arg2029Gly)
c.5956C>G (p.Arg1986Gly)
c.5944C>G (p.Arg1982Gly)
c.5917C>G (p.Arg1973Gly)
n.6501C>G
n.6475C>G
c.6271C>G (p.Arg2091Gly)
c.6265C>G (p.Arg2089Gly)
c.6262C>G (p.Arg2088Gly)
c.6157C>G (p.Arg2053Gly)
c.6154C>G (p.Arg2052Gly)
n.6260C>G
n.6201C>G
n.6246C>G
11g.77211281C>TCA6198947MYO7Ac.6181C>T (p.Arg2061Trp)
c.3982C>T
c.6034C>T (p.Arg2012Trp)
c.3607C>T (p.Arg1203Trp)
c.6067C>T (p.Arg2023Trp)
n.3717C>T
n.25+370C>T
n.1648C>T
c.6064C>T (p.Arg2022Trp)
c.6172C>T (p.Arg2058Trp)
c.6175C>T (p.Arg2059Trp)
c.6148C>T (p.Arg2050Trp)
c.6085C>T (p.Arg2029Trp)
c.5956C>T (p.Arg1986Trp)
c.5944C>T (p.Arg1982Trp)
c.5917C>T (p.Arg1973Trp)
n.6501C>T
n.6475C>T
c.6271C>T (p.Arg2091Trp)
c.6265C>T (p.Arg2089Trp)
c.6262C>T (p.Arg2088Trp)
c.6157C>T (p.Arg2053Trp)
c.6154C>T (p.Arg2052Trp)
n.6260C>T
n.6201C>T
n.6246C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77211282G>ACA6198948MYO7Ac.6182G>A (p.Arg2061Gln)
c.3983G>A
c.6035G>A (p.Arg2012Gln)
c.3608G>A (p.Arg1203Gln)
c.6068G>A (p.Arg2023Gln)
n.3718G>A
n.25+371G>A
n.1649G>A
c.6065G>A (p.Arg2022Gln)
c.6173G>A (p.Arg2058Gln)
c.6176G>A (p.Arg2059Gln)
c.6149G>A (p.Arg2050Gln)
c.6086G>A (p.Arg2029Gln)
c.5957G>A (p.Arg1986Gln)
c.5945G>A (p.Arg1982Gln)
c.5918G>A (p.Arg1973Gln)
n.6502G>A
n.6476G>A
c.6272G>A (p.Arg2091Gln)
c.6266G>A (p.Arg2089Gln)
c.6263G>A (p.Arg2088Gln)
c.6158G>A (p.Arg2053Gln)
c.6155G>A (p.Arg2052Gln)
n.6261G>A
n.6202G>A
n.6247G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211282G>CCA381936112MYO7Ac.6182G>C (p.Arg2061Pro)
c.3983G>C
c.6035G>C (p.Arg2012Pro)
c.3608G>C (p.Arg1203Pro)
c.6068G>C (p.Arg2023Pro)
n.3718G>C
n.25+371G>C
n.1649G>C
c.6065G>C (p.Arg2022Pro)
c.6173G>C (p.Arg2058Pro)
c.6176G>C (p.Arg2059Pro)
c.6149G>C (p.Arg2050Pro)
c.6086G>C (p.Arg2029Pro)
c.5957G>C (p.Arg1986Pro)
c.5945G>C (p.Arg1982Pro)
c.5918G>C (p.Arg1973Pro)
n.6502G>C
n.6476G>C
c.6272G>C (p.Arg2091Pro)
c.6266G>C (p.Arg2089Pro)
c.6263G>C (p.Arg2088Pro)
c.6158G>C (p.Arg2053Pro)
c.6155G>C (p.Arg2052Pro)
n.6261G>C
n.6202G>C
n.6247G>C
11g.77211282G=CA1984129893MYO7Ac.6182G= (p.Arg2061=)
c.3983G=
c.6035G= (p.Arg2012=)
c.3608G= (p.Arg1203=)
c.6068G= (p.Arg2023=)
n.3718G=
n.25+371G=
n.1649G=
c.6065G= (p.Arg2022=)
c.6173G= (p.Arg2058=)
c.6176G= (p.Arg2059=)
c.6149G= (p.Arg2050=)
c.6086G= (p.Arg2029=)
c.5957G= (p.Arg1986=)
c.5945G= (p.Arg1982=)
c.5918G= (p.Arg1973=)
n.6502G=
n.6476G=
c.6272G= (p.Arg2091=)
c.6266G= (p.Arg2089=)
c.6263G= (p.Arg2088=)
c.6158G= (p.Arg2053=)
c.6155G= (p.Arg2052=)
n.6261G=
n.6202G=
n.6247G=
11g.77211282G>TCA381936114MYO7Ac.6182G>T (p.Arg2061Leu)
c.3983G>T
c.6035G>T (p.Arg2012Leu)
c.3608G>T (p.Arg1203Leu)
c.6068G>T (p.Arg2023Leu)
n.3718G>T
n.25+371G>T
n.1649G>T
c.6065G>T (p.Arg2022Leu)
c.6173G>T (p.Arg2058Leu)
c.6176G>T (p.Arg2059Leu)
c.6149G>T (p.Arg2050Leu)
c.6086G>T (p.Arg2029Leu)
c.5957G>T (p.Arg1986Leu)
c.5945G>T (p.Arg1982Leu)
c.5918G>T (p.Arg1973Leu)
n.6502G>T
n.6476G>T
c.6272G>T (p.Arg2091Leu)
c.6266G>T (p.Arg2089Leu)
c.6263G>T (p.Arg2088Leu)
c.6158G>T (p.Arg2053Leu)
c.6155G>T (p.Arg2052Leu)
n.6261G>T
n.6202G>T
n.6247G>T
 gnomAD v4
11g.77211283G>ACA475792022MYO7Ac.6183G>A (p.Arg2061=)
c.3984G>A
c.6036G>A (p.Arg2012=)
c.3609G>A (p.Arg1203=)
c.6069G>A (p.Arg2023=)
n.3719G>A
n.25+372G>A
n.1650G>A
c.6066G>A (p.Arg2022=)
c.6174G>A (p.Arg2058=)
c.6177G>A (p.Arg2059=)
c.6150G>A (p.Arg2050=)
c.6087G>A (p.Arg2029=)
c.5958G>A (p.Arg1986=)
c.5946G>A (p.Arg1982=)
c.5919G>A (p.Arg1973=)
n.6503G>A
n.6477G>A
c.6273G>A (p.Arg2091=)
c.6267G>A (p.Arg2089=)
c.6264G>A (p.Arg2088=)
c.6159G>A (p.Arg2053=)
c.6156G>A (p.Arg2052=)
n.6262G>A
n.6203G>A
n.6248G>A
11g.77211283G>CCA475792023MYO7Ac.6183G>C (p.Arg2061=)
c.3984G>C
c.6036G>C (p.Arg2012=)
c.3609G>C (p.Arg1203=)
c.6069G>C (p.Arg2023=)
n.3719G>C
n.25+372G>C
n.1650G>C
c.6066G>C (p.Arg2022=)
c.6174G>C (p.Arg2058=)
c.6177G>C (p.Arg2059=)
c.6150G>C (p.Arg2050=)
c.6087G>C (p.Arg2029=)
c.5958G>C (p.Arg1986=)
c.5946G>C (p.Arg1982=)
c.5919G>C (p.Arg1973=)
n.6503G>C
n.6477G>C
c.6273G>C (p.Arg2091=)
c.6267G>C (p.Arg2089=)
c.6264G>C (p.Arg2088=)
c.6159G>C (p.Arg2053=)
c.6156G>C (p.Arg2052=)
n.6262G>C
n.6203G>C
n.6248G>C
11g.77211283G>TCA475792025MYO7Ac.6183G>T (p.Arg2061=)
c.3984G>T
c.6036G>T (p.Arg2012=)
c.3609G>T (p.Arg1203=)
c.6069G>T (p.Arg2023=)
n.3719G>T
n.25+372G>T
n.1650G>T
c.6066G>T (p.Arg2022=)
c.6174G>T (p.Arg2058=)
c.6177G>T (p.Arg2059=)
c.6150G>T (p.Arg2050=)
c.6087G>T (p.Arg2029=)
c.5958G>T (p.Arg1986=)
c.5946G>T (p.Arg1982=)
c.5919G>T (p.Arg1973=)
n.6503G>T
n.6477G>T
c.6273G>T (p.Arg2091=)
c.6267G>T (p.Arg2089=)
c.6264G>T (p.Arg2088=)
c.6159G>T (p.Arg2053=)
c.6156G>T (p.Arg2052=)
n.6262G>T
n.6203G>T
n.6248G>T
 gnomAD v4
11g.77211284G>ACA6198949MYO7Ac.6184G>A (p.Glu2062Lys)
c.3985G>A
c.6037G>A (p.Glu2013Lys)
c.3610G>A (p.Glu1204Lys)
c.6070G>A (p.Glu2024Lys)
n.3720G>A
n.25+373G>A
n.1651G>A
c.6067G>A (p.Glu2023Lys)
c.6175G>A (p.Glu2059Lys)
c.6178G>A (p.Glu2060Lys)
c.6151G>A (p.Glu2051Lys)
c.6088G>A (p.Glu2030Lys)
c.5959G>A (p.Glu1987Lys)
c.5947G>A (p.Glu1983Lys)
c.5920G>A (p.Glu1974Lys)
n.6504G>A
n.6478G>A
c.6274G>A (p.Glu2092Lys)
c.6268G>A (p.Glu2090Lys)
c.6265G>A (p.Glu2089Lys)
c.6160G>A (p.Glu2054Lys)
c.6157G>A (p.Glu2053Lys)
n.6263G>A
n.6204G>A
n.6249G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211284G>CCA381936117MYO7Ac.6184G>C (p.Glu2062Gln)
c.3985G>C
c.6037G>C (p.Glu2013Gln)
c.3610G>C (p.Glu1204Gln)
c.6070G>C (p.Glu2024Gln)
n.3720G>C
n.25+373G>C
n.1651G>C
c.6067G>C (p.Glu2023Gln)
c.6175G>C (p.Glu2059Gln)
c.6178G>C (p.Glu2060Gln)
c.6151G>C (p.Glu2051Gln)
c.6088G>C (p.Glu2030Gln)
c.5959G>C (p.Glu1987Gln)
c.5947G>C (p.Glu1983Gln)
c.5920G>C (p.Glu1974Gln)
n.6504G>C
n.6478G>C
c.6274G>C (p.Glu2092Gln)
c.6268G>C (p.Glu2090Gln)
c.6265G>C (p.Glu2089Gln)
c.6160G>C (p.Glu2054Gln)
c.6157G>C (p.Glu2053Gln)
n.6263G>C
n.6204G>C
n.6249G>C
11g.77211284G=CA1984129894MYO7Ac.6184G= (p.Glu2062=)
c.3985G=
c.6037G= (p.Glu2013=)
c.3610G= (p.Glu1204=)
c.6070G= (p.Glu2024=)
n.3720G=
n.25+373G=
n.1651G=
c.6067G= (p.Glu2023=)
c.6175G= (p.Glu2059=)
c.6178G= (p.Glu2060=)
c.6151G= (p.Glu2051=)
c.6088G= (p.Glu2030=)
c.5959G= (p.Glu1987=)
c.5947G= (p.Glu1983=)
c.5920G= (p.Glu1974=)
n.6504G=
n.6478G=
c.6274G= (p.Glu2092=)
c.6268G= (p.Glu2090=)
c.6265G= (p.Glu2089=)
c.6160G= (p.Glu2054=)
c.6157G= (p.Glu2053=)
n.6263G=
n.6204G=
n.6249G=
11g.77211284G>TCA381936119MYO7Ac.6184G>T (p.Glu2062Ter)
c.3985G>T
c.6037G>T (p.Glu2013Ter)
c.3610G>T (p.Glu1204Ter)
c.6070G>T (p.Glu2024Ter)
n.3720G>T
n.25+373G>T
n.1651G>T
c.6067G>T (p.Glu2023Ter)
c.6175G>T (p.Glu2059Ter)
c.6178G>T (p.Glu2060Ter)
c.6151G>T (p.Glu2051Ter)
c.6088G>T (p.Glu2030Ter)
c.5959G>T (p.Glu1987Ter)
c.5947G>T (p.Glu1983Ter)
c.5920G>T (p.Glu1974Ter)
n.6504G>T
n.6478G>T
c.6274G>T (p.Glu2092Ter)
c.6268G>T (p.Glu2090Ter)
c.6265G>T (p.Glu2089Ter)
c.6160G>T (p.Glu2054Ter)
c.6157G>T (p.Glu2053Ter)
n.6263G>T
n.6204G>T
n.6249G>T
 ClinVar dbSNP gnomAD v4
11g.77211285A>CCA381936127MYO7Ac.6185A>C (p.Glu2062Ala)
c.3986A>C
c.6038A>C (p.Glu2013Ala)
c.3611A>C (p.Glu1204Ala)
c.6071A>C (p.Glu2024Ala)
n.3721A>C
n.25+374A>C
n.1652A>C
c.6068A>C (p.Glu2023Ala)
c.6176A>C (p.Glu2059Ala)
c.6179A>C (p.Glu2060Ala)
c.6152A>C (p.Glu2051Ala)
c.6089A>C (p.Glu2030Ala)
c.5960A>C (p.Glu1987Ala)
c.5948A>C (p.Glu1983Ala)
c.5921A>C (p.Glu1974Ala)
n.6505A>C
n.6479A>C
c.6275A>C (p.Glu2092Ala)
c.6269A>C (p.Glu2090Ala)
c.6266A>C (p.Glu2089Ala)
c.6161A>C (p.Glu2054Ala)
c.6158A>C (p.Glu2053Ala)
n.6264A>C
n.6205A>C
n.6250A>C
11g.77211285A>GCA381936122MYO7Ac.6185A>G (p.Glu2062Gly)
c.3986A>G
c.6038A>G (p.Glu2013Gly)
c.3611A>G (p.Glu1204Gly)
c.6071A>G (p.Glu2024Gly)
n.3721A>G
n.25+374A>G
n.1652A>G
c.6068A>G (p.Glu2023Gly)
c.6176A>G (p.Glu2059Gly)
c.6179A>G (p.Glu2060Gly)
c.6152A>G (p.Glu2051Gly)
c.6089A>G (p.Glu2030Gly)
c.5960A>G (p.Glu1987Gly)
c.5948A>G (p.Glu1983Gly)
c.5921A>G (p.Glu1974Gly)
n.6505A>G
n.6479A>G
c.6275A>G (p.Glu2092Gly)
c.6269A>G (p.Glu2090Gly)
c.6266A>G (p.Glu2089Gly)
c.6161A>G (p.Glu2054Gly)
c.6158A>G (p.Glu2053Gly)
n.6264A>G
n.6205A>G
n.6250A>G
11g.77211285A>TCA381936124MYO7Ac.6185A>T (p.Glu2062Val)
c.3986A>T
c.6038A>T (p.Glu2013Val)
c.3611A>T (p.Glu1204Val)
c.6071A>T (p.Glu2024Val)
n.3721A>T
n.25+374A>T
n.1652A>T
c.6068A>T (p.Glu2023Val)
c.6176A>T (p.Glu2059Val)
c.6179A>T (p.Glu2060Val)
c.6152A>T (p.Glu2051Val)
c.6089A>T (p.Glu2030Val)
c.5960A>T (p.Glu1987Val)
c.5948A>T (p.Glu1983Val)
c.5921A>T (p.Glu1974Val)
n.6505A>T
n.6479A>T
c.6275A>T (p.Glu2092Val)
c.6269A>T (p.Glu2090Val)
c.6266A>T (p.Glu2089Val)
c.6161A>T (p.Glu2054Val)
c.6158A>T (p.Glu2053Val)
n.6264A>T
n.6205A>T
n.6250A>T
 gnomAD v4
11g.77211286G>ACA475792026MYO7Ac.6186G>A (p.Glu2062=)
c.3987G>A
c.6039G>A (p.Glu2013=)
c.3612G>A (p.Glu1204=)
c.6072G>A (p.Glu2024=)
n.3722G>A
n.25+375G>A
n.1653G>A
c.6069G>A (p.Glu2023=)
c.6177G>A (p.Glu2059=)
c.6180G>A (p.Glu2060=)
c.6153G>A (p.Glu2051=)
c.6090G>A (p.Glu2030=)
c.5961G>A (p.Glu1987=)
c.5949G>A (p.Glu1983=)
c.5922G>A (p.Glu1974=)
n.6506G>A
n.6480G>A
c.6276G>A (p.Glu2092=)
c.6270G>A (p.Glu2090=)
c.6267G>A (p.Glu2089=)
c.6162G>A (p.Glu2054=)
c.6159G>A (p.Glu2053=)
n.6265G>A
n.6206G>A
n.6251G>A
 gnomAD v4
11g.77211286G>CCA381936130MYO7Ac.6186G>C (p.Glu2062Asp)
c.3987G>C
c.6039G>C (p.Glu2013Asp)
c.3612G>C (p.Glu1204Asp)
c.6072G>C (p.Glu2024Asp)
n.3722G>C
n.25+375G>C
n.1653G>C
c.6069G>C (p.Glu2023Asp)
c.6177G>C (p.Glu2059Asp)
c.6180G>C (p.Glu2060Asp)
c.6153G>C (p.Glu2051Asp)
c.6090G>C (p.Glu2030Asp)
c.5961G>C (p.Glu1987Asp)
c.5949G>C (p.Glu1983Asp)
c.5922G>C (p.Glu1974Asp)
n.6506G>C
n.6480G>C
c.6276G>C (p.Glu2092Asp)
c.6270G>C (p.Glu2090Asp)
c.6267G>C (p.Glu2089Asp)
c.6162G>C (p.Glu2054Asp)
c.6159G>C (p.Glu2053Asp)
n.6265G>C
n.6206G>C
n.6251G>C
11g.77211286G>TCA381936132MYO7Ac.6186G>T (p.Glu2062Asp)
c.3987G>T
c.6039G>T (p.Glu2013Asp)
c.3612G>T (p.Glu1204Asp)
c.6072G>T (p.Glu2024Asp)
n.3722G>T
n.25+375G>T
n.1653G>T
c.6069G>T (p.Glu2023Asp)
c.6177G>T (p.Glu2059Asp)
c.6180G>T (p.Glu2060Asp)
c.6153G>T (p.Glu2051Asp)
c.6090G>T (p.Glu2030Asp)
c.5961G>T (p.Glu1987Asp)
c.5949G>T (p.Glu1983Asp)
c.5922G>T (p.Glu1974Asp)
n.6506G>T
n.6480G>T
c.6276G>T (p.Glu2092Asp)
c.6270G>T (p.Glu2090Asp)
c.6267G>T (p.Glu2089Asp)
c.6162G>T (p.Glu2054Asp)
c.6159G>T (p.Glu2053Asp)
n.6265G>T
n.6206G>T
n.6251G>T
 gnomAD v4
11g.77211287C>ACA381936133MYO7Ac.6187C>A (p.Leu2063Met)
c.3988C>A
c.6040C>A (p.Leu2014Met)
c.3613C>A (p.Leu1205Met)
c.6073C>A (p.Leu2025Met)
n.3723C>A
n.25+376C>A
n.1654C>A
c.6070C>A (p.Leu2024Met)
c.6178C>A (p.Leu2060Met)
c.6181C>A (p.Leu2061Met)
c.6154C>A (p.Leu2052Met)
c.6091C>A (p.Leu2031Met)
c.5962C>A (p.Leu1988Met)
c.5950C>A (p.Leu1984Met)
c.5923C>A (p.Leu1975Met)
n.6507C>A
n.6481C>A
c.6277C>A (p.Leu2093Met)
c.6271C>A (p.Leu2091Met)
c.6268C>A (p.Leu2090Met)
c.6163C>A (p.Leu2055Met)
c.6160C>A (p.Leu2054Met)
n.6266C>A
n.6207C>A
n.6252C>A
11g.77211287C>GCA381936136MYO7Ac.6187C>G (p.Leu2063Val)
c.3988C>G
c.6040C>G (p.Leu2014Val)
c.3613C>G (p.Leu1205Val)
c.6073C>G (p.Leu2025Val)
n.3723C>G
n.25+376C>G
n.1654C>G
c.6070C>G (p.Leu2024Val)
c.6178C>G (p.Leu2060Val)
c.6181C>G (p.Leu2061Val)
c.6154C>G (p.Leu2052Val)
c.6091C>G (p.Leu2031Val)
c.5962C>G (p.Leu1988Val)
c.5950C>G (p.Leu1984Val)
c.5923C>G (p.Leu1975Val)
n.6507C>G
n.6481C>G
c.6277C>G (p.Leu2093Val)
c.6271C>G (p.Leu2091Val)
c.6268C>G (p.Leu2090Val)
c.6163C>G (p.Leu2055Val)
c.6160C>G (p.Leu2054Val)
n.6266C>G
n.6207C>G
n.6252C>G
11g.77211287C>TCA475792027MYO7Ac.6187C>T (p.Leu2063=)
c.3988C>T
c.6040C>T (p.Leu2014=)
c.3613C>T (p.Leu1205=)
c.6073C>T (p.Leu2025=)
n.3723C>T
n.25+376C>T
n.1654C>T
c.6070C>T (p.Leu2024=)
c.6178C>T (p.Leu2060=)
c.6181C>T (p.Leu2061=)
c.6154C>T (p.Leu2052=)
c.6091C>T (p.Leu2031=)
c.5962C>T (p.Leu1988=)
c.5950C>T (p.Leu1984=)
c.5923C>T (p.Leu1975=)
n.6507C>T
n.6481C>T
c.6277C>T (p.Leu2093=)
c.6271C>T (p.Leu2091=)
c.6268C>T (p.Leu2090=)
c.6163C>T (p.Leu2055=)
c.6160C>T (p.Leu2054=)
n.6266C>T
n.6207C>T
n.6252C>T
 gnomAD v4
11g.77211288T>ACA381936139MYO7Ac.6188T>A (p.Leu2063Gln)
c.3989T>A
c.6041T>A (p.Leu2014Gln)
c.3614T>A (p.Leu1205Gln)
c.6074T>A (p.Leu2025Gln)
n.3724T>A
n.25+377T>A
n.1655T>A
c.6071T>A (p.Leu2024Gln)
c.6179T>A (p.Leu2060Gln)
c.6182T>A (p.Leu2061Gln)
c.6155T>A (p.Leu2052Gln)
c.6092T>A (p.Leu2031Gln)
c.5963T>A (p.Leu1988Gln)
c.5951T>A (p.Leu1984Gln)
c.5924T>A (p.Leu1975Gln)
n.6508T>A
n.6482T>A
c.6278T>A (p.Leu2093Gln)
c.6272T>A (p.Leu2091Gln)
c.6269T>A (p.Leu2090Gln)
c.6164T>A (p.Leu2055Gln)
c.6161T>A (p.Leu2054Gln)
n.6267T>A
n.6208T>A
n.6253T>A
11g.77211288T>CCA381936141MYO7Ac.6188T>C (p.Leu2063Pro)
c.3989T>C
c.6041T>C (p.Leu2014Pro)
c.3614T>C (p.Leu1205Pro)
c.6074T>C (p.Leu2025Pro)
n.3724T>C
n.25+377T>C
n.1655T>C
c.6071T>C (p.Leu2024Pro)
c.6179T>C (p.Leu2060Pro)
c.6182T>C (p.Leu2061Pro)
c.6155T>C (p.Leu2052Pro)
c.6092T>C (p.Leu2031Pro)
c.5963T>C (p.Leu1988Pro)
c.5951T>C (p.Leu1984Pro)
c.5924T>C (p.Leu1975Pro)
n.6508T>C
n.6482T>C
c.6278T>C (p.Leu2093Pro)
c.6272T>C (p.Leu2091Pro)
c.6269T>C (p.Leu2090Pro)
c.6164T>C (p.Leu2055Pro)
c.6161T>C (p.Leu2054Pro)
n.6267T>C
n.6208T>C
n.6253T>C
11g.77211288T>GCA381936142MYO7Ac.6188T>G (p.Leu2063Arg)
c.3989T>G
c.6041T>G (p.Leu2014Arg)
c.3614T>G (p.Leu1205Arg)
c.6074T>G (p.Leu2025Arg)
n.3724T>G
n.25+377T>G
n.1655T>G
c.6071T>G (p.Leu2024Arg)
c.6179T>G (p.Leu2060Arg)
c.6182T>G (p.Leu2061Arg)
c.6155T>G (p.Leu2052Arg)
c.6092T>G (p.Leu2031Arg)
c.5963T>G (p.Leu1988Arg)
c.5951T>G (p.Leu1984Arg)
c.5924T>G (p.Leu1975Arg)
n.6508T>G
n.6482T>G
c.6278T>G (p.Leu2093Arg)
c.6272T>G (p.Leu2091Arg)
c.6269T>G (p.Leu2090Arg)
c.6164T>G (p.Leu2055Arg)
c.6161T>G (p.Leu2054Arg)
n.6267T>G
n.6208T>G
n.6253T>G
11g.77211289G>ACA475792030MYO7Ac.6189G>A (p.Leu2063=)
c.3990G>A
c.6042G>A (p.Leu2014=)
c.3615G>A (p.Leu1205=)
c.6075G>A (p.Leu2025=)
n.3725G>A
n.25+378G>A
n.1656G>A
c.6072G>A (p.Leu2024=)
c.6180G>A (p.Leu2060=)
c.6183G>A (p.Leu2061=)
c.6156G>A (p.Leu2052=)
c.6093G>A (p.Leu2031=)
c.5964G>A (p.Leu1988=)
c.5952G>A (p.Leu1984=)
c.5925G>A (p.Leu1975=)
n.6509G>A
n.6483G>A
c.6279G>A (p.Leu2093=)
c.6273G>A (p.Leu2091=)
c.6270G>A (p.Leu2090=)
c.6165G>A (p.Leu2055=)
c.6162G>A (p.Leu2054=)
n.6268G>A
n.6209G>A
n.6254G>A
 gnomAD v4 COSMIC
11g.77211289G>CCA475792028MYO7Ac.6189G>C (p.Leu2063=)
c.3990G>C
c.6042G>C (p.Leu2014=)
c.3615G>C (p.Leu1205=)
c.6075G>C (p.Leu2025=)
n.3725G>C
n.25+378G>C
n.1656G>C
c.6072G>C (p.Leu2024=)
c.6180G>C (p.Leu2060=)
c.6183G>C (p.Leu2061=)
c.6156G>C (p.Leu2052=)
c.6093G>C (p.Leu2031=)
c.5964G>C (p.Leu1988=)
c.5952G>C (p.Leu1984=)
c.5925G>C (p.Leu1975=)
n.6509G>C
n.6483G>C
c.6279G>C (p.Leu2093=)
c.6273G>C (p.Leu2091=)
c.6270G>C (p.Leu2090=)
c.6165G>C (p.Leu2055=)
c.6162G>C (p.Leu2054=)
n.6268G>C
n.6209G>C
n.6254G>C
11g.77211289G>TCA475792029MYO7Ac.6189G>T (p.Leu2063=)
c.3990G>T
c.6042G>T (p.Leu2014=)
c.3615G>T (p.Leu1205=)
c.6075G>T (p.Leu2025=)
n.3725G>T
n.25+378G>T
n.1656G>T
c.6072G>T (p.Leu2024=)
c.6180G>T (p.Leu2060=)
c.6183G>T (p.Leu2061=)
c.6156G>T (p.Leu2052=)
c.6093G>T (p.Leu2031=)
c.5964G>T (p.Leu1988=)
c.5952G>T (p.Leu1984=)
c.5925G>T (p.Leu1975=)
n.6509G>T
n.6483G>T
c.6279G>T (p.Leu2093=)
c.6273G>T (p.Leu2091=)
c.6270G>T (p.Leu2090=)
c.6165G>T (p.Leu2055=)
c.6162G>T (p.Leu2054=)
n.6268G>T
n.6209G>T
n.6254G>T
 gnomAD v4
11g.77211290G>ACA381936143MYO7Ac.6190G>A (p.Val2064Met)
c.3991G>A
c.6043G>A (p.Val2015Met)
c.3616G>A (p.Val1206Met)
c.6076G>A (p.Val2026Met)
n.3726G>A
n.25+379G>A
n.1657G>A
c.6073G>A (p.Val2025Met)
c.6181G>A (p.Val2061Met)
c.6184G>A (p.Val2062Met)
c.6157G>A (p.Val2053Met)
c.6094G>A (p.Val2032Met)
c.5965G>A (p.Val1989Met)
c.5953G>A (p.Val1985Met)
c.5926G>A (p.Val1976Met)
n.6510G>A
n.6484G>A
c.6280G>A (p.Val2094Met)
c.6274G>A (p.Val2092Met)
c.6271G>A (p.Val2091Met)
c.6166G>A (p.Val2056Met)
c.6163G>A (p.Val2055Met)
n.6269G>A
n.6210G>A
n.6255G>A
 dbSNP gnomAD v2 gnomAD v4
11g.77211290G>CCA381936146MYO7Ac.6190G>C (p.Val2064Leu)
c.3991G>C
c.6043G>C (p.Val2015Leu)
c.3616G>C (p.Val1206Leu)
c.6076G>C (p.Val2026Leu)
n.3726G>C
n.25+379G>C
n.1657G>C
c.6073G>C (p.Val2025Leu)
c.6181G>C (p.Val2061Leu)
c.6184G>C (p.Val2062Leu)
c.6157G>C (p.Val2053Leu)
c.6094G>C (p.Val2032Leu)
c.5965G>C (p.Val1989Leu)
c.5953G>C (p.Val1985Leu)
c.5926G>C (p.Val1976Leu)
n.6510G>C
n.6484G>C
c.6280G>C (p.Val2094Leu)
c.6274G>C (p.Val2092Leu)
c.6271G>C (p.Val2091Leu)
c.6166G>C (p.Val2056Leu)
c.6163G>C (p.Val2055Leu)
n.6269G>C
n.6210G>C
n.6255G>C
11g.77211290G=CA1984129895MYO7Ac.6190G= (p.Val2064=)
c.3991G=
c.6043G= (p.Val2015=)
c.3616G= (p.Val1206=)
c.6076G= (p.Val2026=)
n.3726G=
n.25+379G=
n.1657G=
c.6073G= (p.Val2025=)
c.6181G= (p.Val2061=)
c.6184G= (p.Val2062=)
c.6157G= (p.Val2053=)
c.6094G= (p.Val2032=)
c.5965G= (p.Val1989=)
c.5953G= (p.Val1985=)
c.5926G= (p.Val1976=)
n.6510G=
n.6484G=
c.6280G= (p.Val2094=)
c.6274G= (p.Val2092=)
c.6271G= (p.Val2091=)
c.6166G= (p.Val2056=)
c.6163G= (p.Val2055=)
n.6269G=
n.6210G=
n.6255G=
11g.77211290G>TCA381936148MYO7Ac.6190G>T (p.Val2064Leu)
c.3991G>T
c.6043G>T (p.Val2015Leu)
c.3616G>T (p.Val1206Leu)
c.6076G>T (p.Val2026Leu)
n.3726G>T
n.25+379G>T
n.1657G>T
c.6073G>T (p.Val2025Leu)
c.6181G>T (p.Val2061Leu)
c.6184G>T (p.Val2062Leu)
c.6157G>T (p.Val2053Leu)
c.6094G>T (p.Val2032Leu)
c.5965G>T (p.Val1989Leu)
c.5953G>T (p.Val1985Leu)
c.5926G>T (p.Val1976Leu)
n.6510G>T
n.6484G>T
c.6280G>T (p.Val2094Leu)
c.6274G>T (p.Val2092Leu)
c.6271G>T (p.Val2091Leu)
c.6166G>T (p.Val2056Leu)
c.6163G>T (p.Val2055Leu)
n.6269G>T
n.6210G>T
n.6255G>T
 gnomAD v4 COSMIC
11g.77211291T>ACA381936150MYO7Ac.6191T>A (p.Val2064Glu)
c.3992T>A
c.6044T>A (p.Val2015Glu)
c.3617T>A (p.Val1206Glu)
c.6077T>A (p.Val2026Glu)
n.3727T>A
n.25+380T>A
n.1658T>A
c.6074T>A (p.Val2025Glu)
c.6182T>A (p.Val2061Glu)
c.6185T>A (p.Val2062Glu)
c.6158T>A (p.Val2053Glu)
c.6095T>A (p.Val2032Glu)
c.5966T>A (p.Val1989Glu)
c.5954T>A (p.Val1985Glu)
c.5927T>A (p.Val1976Glu)
n.6511T>A
n.6485T>A
c.6281T>A (p.Val2094Glu)
c.6275T>A (p.Val2092Glu)
c.6272T>A (p.Val2091Glu)
c.6167T>A (p.Val2056Glu)
c.6164T>A (p.Val2055Glu)
n.6270T>A
n.6211T>A
n.6256T>A
11g.77211291T>CCA381936153MYO7Ac.6191T>C (p.Val2064Ala)
c.3992T>C
c.6044T>C (p.Val2015Ala)
c.3617T>C (p.Val1206Ala)
c.6077T>C (p.Val2026Ala)
n.3727T>C
n.25+380T>C
n.1658T>C
c.6074T>C (p.Val2025Ala)
c.6182T>C (p.Val2061Ala)
c.6185T>C (p.Val2062Ala)
c.6158T>C (p.Val2053Ala)
c.6095T>C (p.Val2032Ala)
c.5966T>C (p.Val1989Ala)
c.5954T>C (p.Val1985Ala)
c.5927T>C (p.Val1976Ala)
n.6511T>C
n.6485T>C
c.6281T>C (p.Val2094Ala)
c.6275T>C (p.Val2092Ala)
c.6272T>C (p.Val2091Ala)
c.6167T>C (p.Val2056Ala)
c.6164T>C (p.Val2055Ala)
n.6270T>C
n.6211T>C
n.6256T>C
 gnomAD v4 COSMIC
11g.77211291T>GCA381936155MYO7Ac.6191T>G (p.Val2064Gly)
c.3992T>G
c.6044T>G (p.Val2015Gly)
c.3617T>G (p.Val1206Gly)
c.6077T>G (p.Val2026Gly)
n.3727T>G
n.25+380T>G
n.1658T>G
c.6074T>G (p.Val2025Gly)
c.6182T>G (p.Val2061Gly)
c.6185T>G (p.Val2062Gly)
c.6158T>G (p.Val2053Gly)
c.6095T>G (p.Val2032Gly)
c.5966T>G (p.Val1989Gly)
c.5954T>G (p.Val1985Gly)
c.5927T>G (p.Val1976Gly)
n.6511T>G
n.6485T>G
c.6281T>G (p.Val2094Gly)
c.6275T>G (p.Val2092Gly)
c.6272T>G (p.Val2091Gly)
c.6167T>G (p.Val2056Gly)
c.6164T>G (p.Val2055Gly)
n.6270T>G
n.6211T>G
n.6256T>G
11g.77211292G>ACA475792033MYO7Ac.6192G>A (p.Val2064=)
c.3993G>A
c.6045G>A (p.Val2015=)
c.3618G>A (p.Val1206=)
c.6078G>A (p.Val2026=)
n.3728G>A
n.25+381G>A
n.1659G>A
c.6075G>A (p.Val2025=)
c.6183G>A (p.Val2061=)
c.6186G>A (p.Val2062=)
c.6159G>A (p.Val2053=)
c.6096G>A (p.Val2032=)
c.5967G>A (p.Val1989=)
c.5955G>A (p.Val1985=)
c.5928G>A (p.Val1976=)
n.6512G>A
n.6486G>A
c.6282G>A (p.Val2094=)
c.6276G>A (p.Val2092=)
c.6273G>A (p.Val2091=)
c.6168G>A (p.Val2056=)
c.6165G>A (p.Val2055=)
n.6271G>A
n.6212G>A
n.6257G>A
11g.77211292G>CCA475792032MYO7Ac.6192G>C (p.Val2064=)
c.3993G>C
c.6045G>C (p.Val2015=)
c.3618G>C (p.Val1206=)
c.6078G>C (p.Val2026=)
n.3728G>C
n.25+381G>C
n.1659G>C
c.6075G>C (p.Val2025=)
c.6183G>C (p.Val2061=)
c.6186G>C (p.Val2062=)
c.6159G>C (p.Val2053=)
c.6096G>C (p.Val2032=)
c.5967G>C (p.Val1989=)
c.5955G>C (p.Val1985=)
c.5928G>C (p.Val1976=)
n.6512G>C
n.6486G>C
c.6282G>C (p.Val2094=)
c.6276G>C (p.Val2092=)
c.6273G>C (p.Val2091=)
c.6168G>C (p.Val2056=)
c.6165G>C (p.Val2055=)
n.6271G>C
n.6212G>C
n.6257G>C
11g.77211292G>TCA475792031MYO7Ac.6192G>T (p.Val2064=)
c.3993G>T
c.6045G>T (p.Val2015=)
c.3618G>T (p.Val1206=)
c.6078G>T (p.Val2026=)
n.3728G>T
n.25+381G>T
n.1659G>T
c.6075G>T (p.Val2025=)
c.6183G>T (p.Val2061=)
c.6186G>T (p.Val2062=)
c.6159G>T (p.Val2053=)
c.6096G>T (p.Val2032=)
c.5967G>T (p.Val1989=)
c.5955G>T (p.Val1985=)
c.5928G>T (p.Val1976=)
n.6512G>T
n.6486G>T
c.6282G>T (p.Val2094=)
c.6276G>T (p.Val2092=)
c.6273G>T (p.Val2091=)
c.6168G>T (p.Val2056=)
c.6165G>T (p.Val2055=)
n.6271G>T
n.6212G>T
n.6257G>T
 gnomAD v4
11g.77211292_77211293delinsGCCA1984129896MYO7Ac.6192_6193delinsGC (p.Val2064=)
c.3993_3994delinsGC
c.6045_6046delinsGC (p.Val2015=)
c.3618_3619delinsGC (p.Val1206=)
c.6078_6079delinsGC (p.Val2026=)
n.3728_3729delinsGC
n.25+381_25+382delinsGC
n.1659_1660delinsGC
c.6075_6076delinsGC (p.Val2025=)
c.6183_6184delinsGC (p.Val2061=)
c.6186_6187delinsGC (p.Val2062=)
c.6159_6160delinsGC (p.Val2053=)
c.6096_6097delinsGC (p.Val2032=)
c.5967_5968delinsGC (p.Val1989=)
c.5955_5956delinsGC (p.Val1985=)
c.5928_5929delinsGC (p.Val1976=)
n.6512_6513delinsGC
n.6486_6487delinsGC
c.6282_6283delinsGC (p.Val2094=)
c.6276_6277delinsGC (p.Val2092=)
c.6273_6274delinsGC (p.Val2091=)
c.6168_6169delinsGC (p.Val2056=)
c.6165_6166delinsGC (p.Val2055=)
n.6271_6272delinsGC
n.6212_6213delinsGC
n.6257_6258delinsGC
11g.77211293C>ACA381936157MYO7Ac.6193C>A (p.Pro2065Thr)
c.3994C>A
c.6046C>A (p.Pro2016Thr)
c.3619C>A (p.Pro1207Thr)
c.6079C>A (p.Pro2027Thr)
n.3729C>A
n.25+382C>A
n.1660C>A
c.6076C>A (p.Pro2026Thr)
c.6184C>A (p.Pro2062Thr)
c.6187C>A (p.Pro2063Thr)
c.6160C>A (p.Pro2054Thr)
c.6097C>A (p.Pro2033Thr)
c.5968C>A (p.Pro1990Thr)
c.5956C>A (p.Pro1986Thr)
c.5929C>A (p.Pro1977Thr)
n.6513C>A
n.6487C>A
c.6283C>A (p.Pro2095Thr)
c.6277C>A (p.Pro2093Thr)
c.6274C>A (p.Pro2092Thr)
c.6169C>A (p.Pro2057Thr)
c.6166C>A (p.Pro2056Thr)
n.6272C>A
n.6213C>A
n.6258C>A
 ClinVar dbSNP gnomAD v4
11g.77211293C=CA1984129897MYO7Ac.6193C= (p.Pro2065=)
c.3994C=
c.6046C= (p.Pro2016=)
c.3619C= (p.Pro1207=)
c.6079C= (p.Pro2027=)
n.3729C=
n.25+382C=
n.1660C=
c.6076C= (p.Pro2026=)
c.6184C= (p.Pro2062=)
c.6187C= (p.Pro2063=)
c.6160C= (p.Pro2054=)
c.6097C= (p.Pro2033=)
c.5968C= (p.Pro1990=)
c.5956C= (p.Pro1986=)
c.5929C= (p.Pro1977=)
n.6513C=
n.6487C=
c.6283C= (p.Pro2095=)
c.6277C= (p.Pro2093=)
c.6274C= (p.Pro2092=)
c.6169C= (p.Pro2057=)
c.6166C= (p.Pro2056=)
n.6272C=
n.6213C=
n.6258C=
11g.77211293C>GCA381936158MYO7Ac.6193C>G (p.Pro2065Ala)
c.3994C>G
c.6046C>G (p.Pro2016Ala)
c.3619C>G (p.Pro1207Ala)
c.6079C>G (p.Pro2027Ala)
n.3729C>G
n.25+382C>G
n.1660C>G
c.6076C>G (p.Pro2026Ala)
c.6184C>G (p.Pro2062Ala)
c.6187C>G (p.Pro2063Ala)
c.6160C>G (p.Pro2054Ala)
c.6097C>G (p.Pro2033Ala)
c.5968C>G (p.Pro1990Ala)
c.5956C>G (p.Pro1986Ala)
c.5929C>G (p.Pro1977Ala)
n.6513C>G
n.6487C>G
c.6283C>G (p.Pro2095Ala)
c.6277C>G (p.Pro2093Ala)
c.6274C>G (p.Pro2092Ala)
c.6169C>G (p.Pro2057Ala)
c.6166C>G (p.Pro2056Ala)
n.6272C>G
n.6213C>G
n.6258C>G
11g.77211293C>TCA381936156MYO7Ac.6193C>T (p.Pro2065Ser)
c.3994C>T
c.6046C>T (p.Pro2016Ser)
c.3619C>T (p.Pro1207Ser)
c.6079C>T (p.Pro2027Ser)
n.3729C>T
n.25+382C>T
n.1660C>T
c.6076C>T (p.Pro2026Ser)
c.6184C>T (p.Pro2062Ser)
c.6187C>T (p.Pro2063Ser)
c.6160C>T (p.Pro2054Ser)
c.6097C>T (p.Pro2033Ser)
c.5968C>T (p.Pro1990Ser)
c.5956C>T (p.Pro1986Ser)
c.5929C>T (p.Pro1977Ser)
n.6513C>T
n.6487C>T
c.6283C>T (p.Pro2095Ser)
c.6277C>T (p.Pro2093Ser)
c.6274C>T (p.Pro2092Ser)
c.6169C>T (p.Pro2057Ser)
c.6166C>T (p.Pro2056Ser)
n.6272C>T
n.6213C>T
n.6258C>T
 gnomAD v4
11g.77211296delCA680427298MYO7Ac.6196del (p.Gln2066ArgfsTer?)
c.3997del
c.6049del (p.Gln2017ArgfsTer?)
c.3622del (p.Gln1208ArgfsTer?)
c.6082del (p.Gln2028ArgfsTer?)
n.3732del
n.25+385del
n.1663del
c.6079del (p.Gln2027ArgfsTer?)
c.6187del (p.Gln2063ArgfsTer?)
c.6190del (p.Gln2064ArgfsTer?)
c.6163del (p.Gln2055ArgfsTer?)
c.6100del (p.Gln2034ArgfsTer?)
c.5971del (p.Gln1991ArgfsTer?)
c.5959del (p.Gln1987ArgfsTer?)
c.5932del (p.Gln1978ArgfsTer?)
n.6516del
n.6490del
c.6286del (p.Gln2096ArgfsTer?)
c.6280del (p.Gln2094ArgfsTer?)
c.6277del (p.Gln2093ArgfsTer?)
c.6172del (p.Gln2058ArgfsTer?)
c.6169del (p.Gln2057ArgfsTer?)
n.6275del
n.6216del
n.6261del
 ClinVar dbSNP gnomAD v4
11g.77211294C>ACA381936160MYO7Ac.6194C>A (p.Pro2065His)
c.3995C>A
c.6047C>A (p.Pro2016His)
c.3620C>A (p.Pro1207His)
c.6080C>A (p.Pro2027His)
n.3730C>A
n.25+383C>A
n.1661C>A
c.6077C>A (p.Pro2026His)
c.6185C>A (p.Pro2062His)
c.6188C>A (p.Pro2063His)
c.6161C>A (p.Pro2054His)
c.6098C>A (p.Pro2033His)
c.5969C>A (p.Pro1990His)
c.5957C>A (p.Pro1986His)
c.5930C>A (p.Pro1977His)
n.6514C>A
n.6488C>A
c.6284C>A (p.Pro2095His)
c.6278C>A (p.Pro2093His)
c.6275C>A (p.Pro2092His)
c.6170C>A (p.Pro2057His)
c.6167C>A (p.Pro2056His)
n.6273C>A
n.6214C>A
n.6259C>A
11g.77211294C>GCA381936162MYO7Ac.6194C>G (p.Pro2065Arg)
c.3995C>G
c.6047C>G (p.Pro2016Arg)
c.3620C>G (p.Pro1207Arg)
c.6080C>G (p.Pro2027Arg)
n.3730C>G
n.25+383C>G
n.1661C>G
c.6077C>G (p.Pro2026Arg)
c.6185C>G (p.Pro2062Arg)
c.6188C>G (p.Pro2063Arg)
c.6161C>G (p.Pro2054Arg)
c.6098C>G (p.Pro2033Arg)
c.5969C>G (p.Pro1990Arg)
c.5957C>G (p.Pro1986Arg)
c.5930C>G (p.Pro1977Arg)
n.6514C>G
n.6488C>G
c.6284C>G (p.Pro2095Arg)
c.6278C>G (p.Pro2093Arg)
c.6275C>G (p.Pro2092Arg)
c.6170C>G (p.Pro2057Arg)
c.6167C>G (p.Pro2056Arg)
n.6273C>G
n.6214C>G
n.6259C>G
11g.77211294C>TCA381936161MYO7Ac.6194C>T (p.Pro2065Leu)
c.3995C>T
c.6047C>T (p.Pro2016Leu)
c.3620C>T (p.Pro1207Leu)
c.6080C>T (p.Pro2027Leu)
n.3730C>T
n.25+383C>T
n.1661C>T
c.6077C>T (p.Pro2026Leu)
c.6185C>T (p.Pro2062Leu)
c.6188C>T (p.Pro2063Leu)
c.6161C>T (p.Pro2054Leu)
c.6098C>T (p.Pro2033Leu)
c.5969C>T (p.Pro1990Leu)
c.5957C>T (p.Pro1986Leu)
c.5930C>T (p.Pro1977Leu)
n.6514C>T
n.6488C>T
c.6284C>T (p.Pro2095Leu)
c.6278C>T (p.Pro2093Leu)
c.6275C>T (p.Pro2092Leu)
c.6170C>T (p.Pro2057Leu)
c.6167C>T (p.Pro2056Leu)
n.6273C>T
n.6214C>T
n.6259C>T
 gnomAD v4
11g.77211295C>ACA475792034MYO7Ac.6195C>A (p.Pro2065=)
c.3996C>A
c.6048C>A (p.Pro2016=)
c.3621C>A (p.Pro1207=)
c.6081C>A (p.Pro2027=)
n.3731C>A
n.25+384C>A
n.1662C>A
c.6078C>A (p.Pro2026=)
c.6186C>A (p.Pro2062=)
c.6189C>A (p.Pro2063=)
c.6162C>A (p.Pro2054=)
c.6099C>A (p.Pro2033=)
c.5970C>A (p.Pro1990=)
c.5958C>A (p.Pro1986=)
c.5931C>A (p.Pro1977=)
n.6515C>A
n.6489C>A
c.6285C>A (p.Pro2095=)
c.6279C>A (p.Pro2093=)
c.6276C>A (p.Pro2092=)
c.6171C>A (p.Pro2057=)
c.6168C>A (p.Pro2056=)
n.6274C>A
n.6215C>A
n.6260C>A
 gnomAD v4
11g.77211295C>GCA475792036MYO7Ac.6195C>G (p.Pro2065=)
c.3996C>G
c.6048C>G (p.Pro2016=)
c.3621C>G (p.Pro1207=)
c.6081C>G (p.Pro2027=)
n.3731C>G
n.25+384C>G
n.1662C>G
c.6078C>G (p.Pro2026=)
c.6186C>G (p.Pro2062=)
c.6189C>G (p.Pro2063=)
c.6162C>G (p.Pro2054=)
c.6099C>G (p.Pro2033=)
c.5970C>G (p.Pro1990=)
c.5958C>G (p.Pro1986=)
c.5931C>G (p.Pro1977=)
n.6515C>G
n.6489C>G
c.6285C>G (p.Pro2095=)
c.6279C>G (p.Pro2093=)
c.6276C>G (p.Pro2092=)
c.6171C>G (p.Pro2057=)
c.6168C>G (p.Pro2056=)
n.6274C>G
n.6215C>G
n.6260C>G
11g.77211295C>TCA475792035MYO7Ac.6195C>T (p.Pro2065=)
c.3996C>T
c.6048C>T (p.Pro2016=)
c.3621C>T (p.Pro1207=)
c.6081C>T (p.Pro2027=)
n.3731C>T
n.25+384C>T
n.1662C>T
c.6078C>T (p.Pro2026=)
c.6186C>T (p.Pro2062=)
c.6189C>T (p.Pro2063=)
c.6162C>T (p.Pro2054=)
c.6099C>T (p.Pro2033=)
c.5970C>T (p.Pro1990=)
c.5958C>T (p.Pro1986=)
c.5931C>T (p.Pro1977=)
n.6515C>T
n.6489C>T
c.6285C>T (p.Pro2095=)
c.6279C>T (p.Pro2093=)
c.6276C>T (p.Pro2092=)
c.6171C>T (p.Pro2057=)
c.6168C>T (p.Pro2056=)
n.6274C>T
n.6215C>T
n.6260C>T
 gnomAD v4
11g.77211296C>ACA381936164MYO7Ac.6196C>A (p.Gln2066Lys)
c.3997C>A
c.6049C>A (p.Gln2017Lys)
c.3622C>A (p.Gln1208Lys)
c.6082C>A (p.Gln2028Lys)
n.3732C>A
n.25+385C>A
n.1663C>A
c.6079C>A (p.Gln2027Lys)
c.6187C>A (p.Gln2063Lys)
c.6190C>A (p.Gln2064Lys)
c.6163C>A (p.Gln2055Lys)
c.6100C>A (p.Gln2034Lys)
c.5971C>A (p.Gln1991Lys)
c.5959C>A (p.Gln1987Lys)
c.5932C>A (p.Gln1978Lys)
n.6516C>A
n.6490C>A
c.6286C>A (p.Gln2096Lys)
c.6280C>A (p.Gln2094Lys)
c.6277C>A (p.Gln2093Lys)
c.6172C>A (p.Gln2058Lys)
c.6169C>A (p.Gln2057Lys)
n.6275C>A
n.6216C>A
n.6261C>A
11g.77211296C=CA1984129898MYO7Ac.6196C= (p.Gln2066=)
c.3997C=
c.6049C= (p.Gln2017=)
c.3622C= (p.Gln1208=)
c.6082C= (p.Gln2028=)
n.3732C=
n.25+385C=
n.1663C=
c.6079C= (p.Gln2027=)
c.6187C= (p.Gln2063=)
c.6190C= (p.Gln2064=)
c.6163C= (p.Gln2055=)
c.6100C= (p.Gln2034=)
c.5971C= (p.Gln1991=)
c.5959C= (p.Gln1987=)
c.5932C= (p.Gln1978=)
n.6516C=
n.6490C=
c.6286C= (p.Gln2096=)
c.6280C= (p.Gln2094=)
c.6277C= (p.Gln2093=)
c.6172C= (p.Gln2058=)
c.6169C= (p.Gln2057=)
n.6275C=
n.6216C=
n.6261C=
11g.77211296C>GCA381936166MYO7Ac.6196C>G (p.Gln2066Glu)
c.3997C>G
c.6049C>G (p.Gln2017Glu)
c.3622C>G (p.Gln1208Glu)
c.6082C>G (p.Gln2028Glu)
n.3732C>G
n.25+385C>G
n.1663C>G
c.6079C>G (p.Gln2027Glu)
c.6187C>G (p.Gln2063Glu)
c.6190C>G (p.Gln2064Glu)
c.6163C>G (p.Gln2055Glu)
c.6100C>G (p.Gln2034Glu)
c.5971C>G (p.Gln1991Glu)
c.5959C>G (p.Gln1987Glu)
c.5932C>G (p.Gln1978Glu)
n.6516C>G
n.6490C>G
c.6286C>G (p.Gln2096Glu)
c.6280C>G (p.Gln2094Glu)
c.6277C>G (p.Gln2093Glu)
c.6172C>G (p.Gln2058Glu)
c.6169C>G (p.Gln2057Glu)
n.6275C>G
n.6216C>G
n.6261C>G
11g.77211296C>TCA16609577MYO7Ac.6196C>T (p.Gln2066Ter)
c.3997C>T
c.6049C>T (p.Gln2017Ter)
c.3622C>T (p.Gln1208Ter)
c.6082C>T (p.Gln2028Ter)
n.3732C>T
n.25+385C>T
n.1663C>T
c.6079C>T (p.Gln2027Ter)
c.6187C>T (p.Gln2063Ter)
c.6190C>T (p.Gln2064Ter)
c.6163C>T (p.Gln2055Ter)
c.6100C>T (p.Gln2034Ter)
c.5971C>T (p.Gln1991Ter)
c.5959C>T (p.Gln1987Ter)
c.5932C>T (p.Gln1978Ter)
n.6516C>T
n.6490C>T
c.6286C>T (p.Gln2096Ter)
c.6280C>T (p.Gln2094Ter)
c.6277C>T (p.Gln2093Ter)
c.6172C>T (p.Gln2058Ter)
c.6169C>T (p.Gln2057Ter)
n.6275C>T
n.6216C>T
n.6261C>T
 ClinVar dbSNP gnomAD v4
11g.77211297A>CCA381936169MYO7Ac.6197A>C (p.Gln2066Pro)
c.3998A>C
c.6050A>C (p.Gln2017Pro)
c.3623A>C (p.Gln1208Pro)
c.6083A>C (p.Gln2028Pro)
n.3733A>C
n.25+386A>C
n.1664A>C
c.6080A>C (p.Gln2027Pro)
c.6188A>C (p.Gln2063Pro)
c.6191A>C (p.Gln2064Pro)
c.6164A>C (p.Gln2055Pro)
c.6101A>C (p.Gln2034Pro)
c.5972A>C (p.Gln1991Pro)
c.5960A>C (p.Gln1987Pro)
c.5933A>C (p.Gln1978Pro)
n.6517A>C
n.6491A>C
c.6287A>C (p.Gln2096Pro)
c.6281A>C (p.Gln2094Pro)
c.6278A>C (p.Gln2093Pro)
c.6173A>C (p.Gln2058Pro)
c.6170A>C (p.Gln2057Pro)
n.6276A>C
n.6217A>C
n.6262A>C
11g.77211297A>GCA381936171MYO7Ac.6197A>G (p.Gln2066Arg)
c.3998A>G
c.6050A>G (p.Gln2017Arg)
c.3623A>G (p.Gln1208Arg)
c.6083A>G (p.Gln2028Arg)
n.3733A>G
n.25+386A>G
n.1664A>G
c.6080A>G (p.Gln2027Arg)
c.6188A>G (p.Gln2063Arg)
c.6191A>G (p.Gln2064Arg)
c.6164A>G (p.Gln2055Arg)
c.6101A>G (p.Gln2034Arg)
c.5972A>G (p.Gln1991Arg)
c.5960A>G (p.Gln1987Arg)
c.5933A>G (p.Gln1978Arg)
n.6517A>G
n.6491A>G
c.6287A>G (p.Gln2096Arg)
c.6281A>G (p.Gln2094Arg)
c.6278A>G (p.Gln2093Arg)
c.6173A>G (p.Gln2058Arg)
c.6170A>G (p.Gln2057Arg)
n.6276A>G
n.6217A>G
n.6262A>G
11g.77211297A>TCA381936172MYO7Ac.6197A>T (p.Gln2066Leu)
c.3998A>T
c.6050A>T (p.Gln2017Leu)
c.3623A>T (p.Gln1208Leu)
c.6083A>T (p.Gln2028Leu)
n.3733A>T
n.25+386A>T
n.1664A>T
c.6080A>T (p.Gln2027Leu)
c.6188A>T (p.Gln2063Leu)
c.6191A>T (p.Gln2064Leu)
c.6164A>T (p.Gln2055Leu)
c.6101A>T (p.Gln2034Leu)
c.5972A>T (p.Gln1991Leu)
c.5960A>T (p.Gln1987Leu)
c.5933A>T (p.Gln1978Leu)
n.6517A>T
n.6491A>T
c.6287A>T (p.Gln2096Leu)
c.6281A>T (p.Gln2094Leu)
c.6278A>T (p.Gln2093Leu)
c.6173A>T (p.Gln2058Leu)
c.6170A>T (p.Gln2057Leu)
n.6276A>T
n.6217A>T
n.6262A>T
11g.77211298G>ACA475792038MYO7Ac.6198G>A (p.Gln2066=)
c.3999G>A
c.6051G>A (p.Gln2017=)
c.3624G>A (p.Gln1208=)
c.6084G>A (p.Gln2028=)
n.3734G>A
n.25+387G>A
n.1665G>A
c.6081G>A (p.Gln2027=)
c.6189G>A (p.Gln2063=)
c.6192G>A (p.Gln2064=)
c.6165G>A (p.Gln2055=)
c.6102G>A (p.Gln2034=)
c.5973G>A (p.Gln1991=)
c.5961G>A (p.Gln1987=)
c.5934G>A (p.Gln1978=)
n.6518G>A
n.6492G>A
c.6288G>A (p.Gln2096=)
c.6282G>A (p.Gln2094=)
c.6279G>A (p.Gln2093=)
c.6174G>A (p.Gln2058=)
c.6171G>A (p.Gln2057=)
n.6277G>A
n.6218G>A
n.6263G>A
11g.77211298G>CCA381936174MYO7Ac.6198G>C (p.Gln2066His)
c.3999G>C
c.6051G>C (p.Gln2017His)
c.3624G>C (p.Gln1208His)
c.6084G>C (p.Gln2028His)
n.3734G>C
n.25+387G>C
n.1665G>C
c.6081G>C (p.Gln2027His)
c.6189G>C (p.Gln2063His)
c.6192G>C (p.Gln2064His)
c.6165G>C (p.Gln2055His)
c.6102G>C (p.Gln2034His)
c.5973G>C (p.Gln1991His)
c.5961G>C (p.Gln1987His)
c.5934G>C (p.Gln1978His)
n.6518G>C
n.6492G>C
c.6288G>C (p.Gln2096His)
c.6282G>C (p.Gln2094His)
c.6279G>C (p.Gln2093His)
c.6174G>C (p.Gln2058His)
c.6171G>C (p.Gln2057His)
n.6277G>C
n.6218G>C
n.6263G>C
11g.77211298G=CA1984129899MYO7Ac.6198G= (p.Gln2066=)
c.3999G=
c.6051G= (p.Gln2017=)
c.3624G= (p.Gln1208=)
c.6084G= (p.Gln2028=)
n.3734G=
n.25+387G=
n.1665G=
c.6081G= (p.Gln2027=)
c.6189G= (p.Gln2063=)
c.6192G= (p.Gln2064=)
c.6165G= (p.Gln2055=)
c.6102G= (p.Gln2034=)
c.5973G= (p.Gln1991=)
c.5961G= (p.Gln1987=)
c.5934G= (p.Gln1978=)
n.6518G=
n.6492G=
c.6288G= (p.Gln2096=)
c.6282G= (p.Gln2094=)
c.6279G= (p.Gln2093=)
c.6174G= (p.Gln2058=)
c.6171G= (p.Gln2057=)
n.6277G=
n.6218G=
n.6263G=
11g.77211298G>TCA224827829MYO7Ac.6198G>T (p.Gln2066His)
c.3999G>T
c.6051G>T (p.Gln2017His)
c.3624G>T (p.Gln1208His)
c.6084G>T (p.Gln2028His)
n.3734G>T
n.25+387G>T
n.1665G>T
c.6081G>T (p.Gln2027His)
c.6189G>T (p.Gln2063His)
c.6192G>T (p.Gln2064His)
c.6165G>T (p.Gln2055His)
c.6102G>T (p.Gln2034His)
c.5973G>T (p.Gln1991His)
c.5961G>T (p.Gln1987His)
c.5934G>T (p.Gln1978His)
n.6518G>T
n.6492G>T
c.6288G>T (p.Gln2096His)
c.6282G>T (p.Gln2094His)
c.6279G>T (p.Gln2093His)
c.6174G>T (p.Gln2058His)
c.6171G>T (p.Gln2057His)
n.6277G>T
n.6218G>T
n.6263G>T
 dbSNP gnomAD v4
11g.77211299G>ACA381936176MYO7Ac.6199G>A (p.Asp2067Asn)
c.4000G>A
c.6052G>A (p.Asp2018Asn)
c.3625G>A (p.Asp1209Asn)
c.6085G>A (p.Asp2029Asn)
n.3735G>A
n.25+388G>A
n.1666G>A
c.6082G>A (p.Asp2028Asn)
c.6190G>A (p.Asp2064Asn)
c.6193G>A (p.Asp2065Asn)
c.6166G>A (p.Asp2056Asn)
c.6103G>A (p.Asp2035Asn)
c.5974G>A (p.Asp1992Asn)
c.5962G>A (p.Asp1988Asn)
c.5935G>A (p.Asp1979Asn)
n.6519G>A
n.6493G>A
c.6289G>A (p.Asp2097Asn)
c.6283G>A (p.Asp2095Asn)
c.6280G>A (p.Asp2094Asn)
c.6175G>A (p.Asp2059Asn)
c.6172G>A (p.Asp2058Asn)
n.6278G>A
n.6219G>A
n.6264G>A
 gnomAD v4
11g.77211299G>CCA381936179MYO7Ac.6199G>C (p.Asp2067His)
c.4000G>C
c.6052G>C (p.Asp2018His)
c.3625G>C (p.Asp1209His)
c.6085G>C (p.Asp2029His)
n.3735G>C
n.25+388G>C
n.1666G>C
c.6082G>C (p.Asp2028His)
c.6190G>C (p.Asp2064His)
c.6193G>C (p.Asp2065His)
c.6166G>C (p.Asp2056His)
c.6103G>C (p.Asp2035His)
c.5974G>C (p.Asp1992His)
c.5962G>C (p.Asp1988His)
c.5935G>C (p.Asp1979His)
n.6519G>C
n.6493G>C
c.6289G>C (p.Asp2097His)
c.6283G>C (p.Asp2095His)
c.6280G>C (p.Asp2094His)
c.6175G>C (p.Asp2059His)
c.6172G>C (p.Asp2058His)
n.6278G>C
n.6219G>C
n.6264G>C
11g.77211299G>TCA381936181MYO7Ac.6199G>T (p.Asp2067Tyr)
c.4000G>T
c.6052G>T (p.Asp2018Tyr)
c.3625G>T (p.Asp1209Tyr)
c.6085G>T (p.Asp2029Tyr)
n.3735G>T
n.25+388G>T
n.1666G>T
c.6082G>T (p.Asp2028Tyr)
c.6190G>T (p.Asp2064Tyr)
c.6193G>T (p.Asp2065Tyr)
c.6166G>T (p.Asp2056Tyr)
c.6103G>T (p.Asp2035Tyr)
c.5974G>T (p.Asp1992Tyr)
c.5962G>T (p.Asp1988Tyr)
c.5935G>T (p.Asp1979Tyr)
n.6519G>T
n.6493G>T
c.6289G>T (p.Asp2097Tyr)
c.6283G>T (p.Asp2095Tyr)
c.6280G>T (p.Asp2094Tyr)
c.6175G>T (p.Asp2059Tyr)
c.6172G>T (p.Asp2058Tyr)
n.6278G>T
n.6219G>T
n.6264G>T
 gnomAD v4
11g.77211300A>CCA381936185MYO7Ac.6200A>C (p.Asp2067Ala)
c.4001A>C
c.6053A>C (p.Asp2018Ala)
c.3626A>C (p.Asp1209Ala)
c.6086A>C (p.Asp2029Ala)
n.3736A>C
n.25+389A>C
n.1667A>C
c.6083A>C (p.Asp2028Ala)
c.6191A>C (p.Asp2064Ala)
c.6194A>C (p.Asp2065Ala)
c.6167A>C (p.Asp2056Ala)
c.6104A>C (p.Asp2035Ala)
c.5975A>C (p.Asp1992Ala)
c.5963A>C (p.Asp1988Ala)
c.5936A>C (p.Asp1979Ala)
n.6520A>C
n.6494A>C
c.6290A>C (p.Asp2097Ala)
c.6284A>C (p.Asp2095Ala)
c.6281A>C (p.Asp2094Ala)
c.6176A>C (p.Asp2059Ala)
c.6173A>C (p.Asp2058Ala)
n.6279A>C
n.6220A>C
n.6265A>C
11g.77211300A>GCA381936187MYO7Ac.6200A>G (p.Asp2067Gly)
c.4001A>G
c.6053A>G (p.Asp2018Gly)
c.3626A>G (p.Asp1209Gly)
c.6086A>G (p.Asp2029Gly)
n.3736A>G
n.25+389A>G
n.1667A>G
c.6083A>G (p.Asp2028Gly)
c.6191A>G (p.Asp2064Gly)
c.6194A>G (p.Asp2065Gly)
c.6167A>G (p.Asp2056Gly)
c.6104A>G (p.Asp2035Gly)
c.5975A>G (p.Asp1992Gly)
c.5963A>G (p.Asp1988Gly)
c.5936A>G (p.Asp1979Gly)
n.6520A>G
n.6494A>G
c.6290A>G (p.Asp2097Gly)
c.6284A>G (p.Asp2095Gly)
c.6281A>G (p.Asp2094Gly)
c.6176A>G (p.Asp2059Gly)
c.6173A>G (p.Asp2058Gly)
n.6279A>G
n.6220A>G
n.6265A>G
11g.77211300A>TCA381936189MYO7Ac.6200A>T (p.Asp2067Val)
c.4001A>T
c.6053A>T (p.Asp2018Val)
c.3626A>T (p.Asp1209Val)
c.6086A>T (p.Asp2029Val)
n.3736A>T
n.25+389A>T
n.1667A>T
c.6083A>T (p.Asp2028Val)
c.6191A>T (p.Asp2064Val)
c.6194A>T (p.Asp2065Val)
c.6167A>T (p.Asp2056Val)
c.6104A>T (p.Asp2035Val)
c.5975A>T (p.Asp1992Val)
c.5963A>T (p.Asp1988Val)
c.5936A>T (p.Asp1979Val)
n.6520A>T
n.6494A>T
c.6290A>T (p.Asp2097Val)
c.6284A>T (p.Asp2095Val)
c.6281A>T (p.Asp2094Val)
c.6176A>T (p.Asp2059Val)
c.6173A>T (p.Asp2058Val)
n.6279A>T
n.6220A>T
n.6265A>T
11g.77211301C>ACA381936193MYO7Ac.6201C>A (p.Asp2067Glu)
c.4002C>A
c.6054C>A (p.Asp2018Glu)
c.3627C>A (p.Asp1209Glu)
c.6087C>A (p.Asp2029Glu)
n.3737C>A
n.25+390C>A
n.1668C>A
c.6084C>A (p.Asp2028Glu)
c.6192C>A (p.Asp2064Glu)
c.6195C>A (p.Asp2065Glu)
c.6168C>A (p.Asp2056Glu)
c.6105C>A (p.Asp2035Glu)
c.5976C>A (p.Asp1992Glu)
c.5964C>A (p.Asp1988Glu)
c.5937C>A (p.Asp1979Glu)
n.6521C>A
n.6495C>A
c.6291C>A (p.Asp2097Glu)
c.6285C>A (p.Asp2095Glu)
c.6282C>A (p.Asp2094Glu)
c.6177C>A (p.Asp2059Glu)
c.6174C>A (p.Asp2058Glu)
n.6280C>A
n.6221C>A
n.6266C>A
 dbSNP gnomAD v4
11g.77211301C>GCA381936194MYO7Ac.6201C>G (p.Asp2067Glu)
c.4002C>G
c.6054C>G (p.Asp2018Glu)
c.3627C>G (p.Asp1209Glu)
c.6087C>G (p.Asp2029Glu)
n.3737C>G
n.25+390C>G
n.1668C>G
c.6084C>G (p.Asp2028Glu)
c.6192C>G (p.Asp2064Glu)
c.6195C>G (p.Asp2065Glu)
c.6168C>G (p.Asp2056Glu)
c.6105C>G (p.Asp2035Glu)
c.5976C>G (p.Asp1992Glu)
c.5964C>G (p.Asp1988Glu)
c.5937C>G (p.Asp1979Glu)
n.6521C>G
n.6495C>G
c.6291C>G (p.Asp2097Glu)
c.6285C>G (p.Asp2095Glu)
c.6282C>G (p.Asp2094Glu)
c.6177C>G (p.Asp2059Glu)
c.6174C>G (p.Asp2058Glu)
n.6280C>G
n.6221C>G
n.6266C>G
 gnomAD v4
11g.77211301C>TCA475792039MYO7Ac.6201C>T (p.Asp2067=)
c.4002C>T
c.6054C>T (p.Asp2018=)
c.3627C>T (p.Asp1209=)
c.6087C>T (p.Asp2029=)
n.3737C>T
n.25+390C>T
n.1668C>T
c.6084C>T (p.Asp2028=)
c.6192C>T (p.Asp2064=)
c.6195C>T (p.Asp2065=)
c.6168C>T (p.Asp2056=)
c.6105C>T (p.Asp2035=)
c.5976C>T (p.Asp1992=)
c.5964C>T (p.Asp1988=)
c.5937C>T (p.Asp1979=)
n.6521C>T
n.6495C>T
c.6291C>T (p.Asp2097=)
c.6285C>T (p.Asp2095=)
c.6282C>T (p.Asp2094=)
c.6177C>T (p.Asp2059=)
c.6174C>T (p.Asp2058=)
n.6280C>T
n.6221C>T
n.6266C>T
 gnomAD v4
11g.77211302C>ACA381936198MYO7Ac.6202C>A (p.Leu2068Ile)
c.4003C>A
c.6055C>A (p.Leu2019Ile)
c.3628C>A (p.Leu1210Ile)
c.6088C>A (p.Leu2030Ile)
n.3738C>A
n.25+391C>A
n.1669C>A
c.6085C>A (p.Leu2029Ile)
c.6193C>A (p.Leu2065Ile)
c.6196C>A (p.Leu2066Ile)
c.6169C>A (p.Leu2057Ile)
c.6106C>A (p.Leu2036Ile)
c.5977C>A (p.Leu1993Ile)
c.5965C>A (p.Leu1989Ile)
c.5938C>A (p.Leu1980Ile)
n.6522C>A
n.6496C>A
c.6292C>A (p.Leu2098Ile)
c.6286C>A (p.Leu2096Ile)
c.6283C>A (p.Leu2095Ile)
c.6178C>A (p.Leu2060Ile)
c.6175C>A (p.Leu2059Ile)
n.6281C>A
n.6267C>A
 gnomAD v4
11g.77211302C>GCA381936202MYO7Ac.6202C>G (p.Leu2068Val)
c.4003C>G
c.6055C>G (p.Leu2019Val)
c.3628C>G (p.Leu1210Val)
c.6088C>G (p.Leu2030Val)
n.3738C>G
n.25+391C>G
n.1669C>G
c.6085C>G (p.Leu2029Val)
c.6193C>G (p.Leu2065Val)
c.6196C>G (p.Leu2066Val)
c.6169C>G (p.Leu2057Val)
c.6106C>G (p.Leu2036Val)
c.5977C>G (p.Leu1993Val)
c.5965C>G (p.Leu1989Val)
c.5938C>G (p.Leu1980Val)
n.6522C>G
n.6496C>G
c.6292C>G (p.Leu2098Val)
c.6286C>G (p.Leu2096Val)
c.6283C>G (p.Leu2095Val)
c.6178C>G (p.Leu2060Val)
c.6175C>G (p.Leu2059Val)
n.6281C>G
n.6267C>G
11g.77211302C>TCA381936200MYO7Ac.6202C>T (p.Leu2068Phe)
c.4003C>T
c.6055C>T (p.Leu2019Phe)
c.3628C>T (p.Leu1210Phe)
c.6088C>T (p.Leu2030Phe)
n.3738C>T
n.25+391C>T
n.1669C>T
c.6085C>T (p.Leu2029Phe)
c.6193C>T (p.Leu2065Phe)
c.6196C>T (p.Leu2066Phe)
c.6169C>T (p.Leu2057Phe)
c.6106C>T (p.Leu2036Phe)
c.5977C>T (p.Leu1993Phe)
c.5965C>T (p.Leu1989Phe)
c.5938C>T (p.Leu1980Phe)
n.6522C>T
n.6496C>T
c.6292C>T (p.Leu2098Phe)
c.6286C>T (p.Leu2096Phe)
c.6283C>T (p.Leu2095Phe)
c.6178C>T (p.Leu2060Phe)
c.6175C>T (p.Leu2059Phe)
n.6281C>T
n.6267C>T
 gnomAD v4
11g.77211303T>ACA381936206MYO7Ac.6203T>A (p.Leu2068His)
c.4004T>A
c.6056T>A (p.Leu2019His)
c.3629T>A (p.Leu1210His)
c.6089T>A (p.Leu2030His)
n.3739T>A
n.25+392T>A
n.1670T>A
c.6086T>A (p.Leu2029His)
c.6194T>A (p.Leu2065His)
c.6197T>A (p.Leu2066His)
c.6170T>A (p.Leu2057His)
c.6107T>A (p.Leu2036His)
c.5978T>A (p.Leu1993His)
c.5966T>A (p.Leu1989His)
c.5939T>A (p.Leu1980His)
n.6523T>A
n.6497T>A
c.6293T>A (p.Leu2098His)
c.6287T>A (p.Leu2096His)
c.6284T>A (p.Leu2095His)
c.6179T>A (p.Leu2060His)
c.6176T>A (p.Leu2059His)
n.6282T>A
n.6268T>A
 gnomAD v4
11g.77211303T>CCA381936208MYO7Ac.6203T>C (p.Leu2068Pro)
c.4004T>C
c.6056T>C (p.Leu2019Pro)
c.3629T>C (p.Leu1210Pro)
c.6089T>C (p.Leu2030Pro)
n.3739T>C
n.25+392T>C
n.1670T>C
c.6086T>C (p.Leu2029Pro)
c.6194T>C (p.Leu2065Pro)
c.6197T>C (p.Leu2066Pro)
c.6170T>C (p.Leu2057Pro)
c.6107T>C (p.Leu2036Pro)
c.5978T>C (p.Leu1993Pro)
c.5966T>C (p.Leu1989Pro)
c.5939T>C (p.Leu1980Pro)
n.6523T>C
n.6497T>C
c.6293T>C (p.Leu2098Pro)
c.6287T>C (p.Leu2096Pro)
c.6284T>C (p.Leu2095Pro)
c.6179T>C (p.Leu2060Pro)
c.6176T>C (p.Leu2059Pro)
n.6282T>C
n.6268T>C
 gnomAD v4
11g.77211303T>GCA6198950MYO7Ac.6203T>G (p.Leu2068Arg)
c.4004T>G
c.6056T>G (p.Leu2019Arg)
c.3629T>G (p.Leu1210Arg)
c.6089T>G (p.Leu2030Arg)
n.3739T>G
n.25+392T>G
n.1670T>G
c.6086T>G (p.Leu2029Arg)
c.6194T>G (p.Leu2065Arg)
c.6197T>G (p.Leu2066Arg)
c.6170T>G (p.Leu2057Arg)
c.6107T>G (p.Leu2036Arg)
c.5978T>G (p.Leu1993Arg)
c.5966T>G (p.Leu1989Arg)
c.5939T>G (p.Leu1980Arg)
n.6523T>G
n.6497T>G
c.6293T>G (p.Leu2098Arg)
c.6287T>G (p.Leu2096Arg)
c.6284T>G (p.Leu2095Arg)
c.6179T>G (p.Leu2060Arg)
c.6176T>G (p.Leu2059Arg)
n.6282T>G
n.6268T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211303T=CA1984129900MYO7Ac.6203T= (p.Leu2068=)
c.4004T=
c.6056T= (p.Leu2019=)
c.3629T= (p.Leu1210=)
c.6089T= (p.Leu2030=)
n.3739T=
n.25+392T=
n.1670T=
c.6086T= (p.Leu2029=)
c.6194T= (p.Leu2065=)
c.6197T= (p.Leu2066=)
c.6170T= (p.Leu2057=)
c.6107T= (p.Leu2036=)
c.5978T= (p.Leu1993=)
c.5966T= (p.Leu1989=)
c.5939T= (p.Leu1980=)
n.6523T=
n.6497T=
c.6293T= (p.Leu2098=)
c.6287T= (p.Leu2096=)
c.6284T= (p.Leu2095=)
c.6179T= (p.Leu2060=)
c.6176T= (p.Leu2059=)
n.6282T=
n.6268T=
11g.77211304dupCA2695215067MYO7Ac.6204dup (p.Ile2069TyrfsTer7)
c.4005dup
c.6057dup (p.Ile2020TyrfsTer7)
c.3630dup (p.Ile1211TyrfsTer7)
c.6090dup (p.Ile2031TyrfsTer7)
n.3740dup
n.25+393dup
n.1671dup
c.6087dup (p.Ile2030TyrfsTer7)
c.6195dup (p.Ile2066TyrfsTer7)
c.6198dup (p.Ile2067TyrfsTer7)
c.6171dup (p.Ile2058TyrfsTer7)
c.6108dup (p.Ile2037TyrfsTer7)
c.5979dup (p.Ile1994TyrfsTer7)
c.5967dup (p.Ile1990TyrfsTer7)
c.5940dup (p.Ile1981TyrfsTer7)
n.6524dup
n.6498dup
c.6294dup (p.Ile2099TyrfsTer7)
c.6288dup (p.Ile2097TyrfsTer7)
c.6285dup (p.Ile2096TyrfsTer7)
c.6180dup (p.Ile2061TyrfsTer7)
c.6177dup (p.Ile2060TyrfsTer7)
n.6283dup
n.6269dup
11g.77211304T>ACA475792041MYO7Ac.6204T>A (p.Leu2068=)
c.4005T>A
c.6057T>A (p.Leu2019=)
c.3630T>A (p.Leu1210=)
c.6090T>A (p.Leu2030=)
n.3740T>A
n.25+393T>A
n.1671T>A
c.6087T>A (p.Leu2029=)
c.6195T>A (p.Leu2065=)
c.6198T>A (p.Leu2066=)
c.6171T>A (p.Leu2057=)
c.6108T>A (p.Leu2036=)
c.5979T>A (p.Leu1993=)
c.5967T>A (p.Leu1989=)
c.5940T>A (p.Leu1980=)
n.6524T>A
n.6498T>A
c.6294T>A (p.Leu2098=)
c.6288T>A (p.Leu2096=)
c.6285T>A (p.Leu2095=)
c.6180T>A (p.Leu2060=)
c.6177T>A (p.Leu2059=)
n.6283T>A
n.6269T>A
11g.77211304T>CCA475792042MYO7Ac.6204T>C (p.Leu2068=)
c.4005T>C
c.6057T>C (p.Leu2019=)
c.3630T>C (p.Leu1210=)
c.6090T>C (p.Leu2030=)
n.3740T>C
n.25+393T>C
n.1671T>C
c.6087T>C (p.Leu2029=)
c.6195T>C (p.Leu2065=)
c.6198T>C (p.Leu2066=)
c.6171T>C (p.Leu2057=)
c.6108T>C (p.Leu2036=)
c.5979T>C (p.Leu1993=)
c.5967T>C (p.Leu1989=)
c.5940T>C (p.Leu1980=)
n.6524T>C
n.6498T>C
c.6294T>C (p.Leu2098=)
c.6288T>C (p.Leu2096=)
c.6285T>C (p.Leu2095=)
c.6180T>C (p.Leu2060=)
c.6177T>C (p.Leu2059=)
n.6283T>C
n.6269T>C
 ClinVar dbSNP gnomAD v4
11g.77211304T>GCA475792043MYO7Ac.6204T>G (p.Leu2068=)
c.4005T>G
c.6057T>G (p.Leu2019=)
c.3630T>G (p.Leu1210=)
c.6090T>G (p.Leu2030=)
n.3740T>G
n.25+393T>G
n.1671T>G
c.6087T>G (p.Leu2029=)
c.6195T>G (p.Leu2065=)
c.6198T>G (p.Leu2066=)
c.6171T>G (p.Leu2057=)
c.6108T>G (p.Leu2036=)
c.5979T>G (p.Leu1993=)
c.5967T>G (p.Leu1989=)
c.5940T>G (p.Leu1980=)
n.6524T>G
n.6498T>G
c.6294T>G (p.Leu2098=)
c.6288T>G (p.Leu2096=)
c.6285T>G (p.Leu2095=)
c.6180T>G (p.Leu2060=)
c.6177T>G (p.Leu2059=)
n.6283T>G
n.6269T>G
11g.77211305_77211306delCA2695215068MYO7Ac.6205_6206del (p.Ile2069ProfsTer6)
c.4006_4007del
c.6058_6059del (p.Ile2020ProfsTer6)
c.3631_3632del (p.Ile1211ProfsTer6)
c.6091_6092del (p.Ile2031ProfsTer6)
n.3741_3742del
n.25+394_25+395del
n.1672_1673del
c.6088_6089del (p.Ile2030ProfsTer6)
c.6196_6197del (p.Ile2066ProfsTer6)
c.6199_6200del (p.Ile2067ProfsTer6)
c.6172_6173del (p.Ile2058ProfsTer6)
c.6109_6110del (p.Ile2037ProfsTer6)
c.5980_5981del (p.Ile1994ProfsTer6)
c.5968_5969del (p.Ile1990ProfsTer6)
c.5941_5942del (p.Ile1981ProfsTer6)
n.6525_6526del
n.6499_6500del
c.6295_6296del (p.Ile2099ProfsTer6)
c.6289_6290del (p.Ile2097ProfsTer6)
c.6286_6287del (p.Ile2096ProfsTer6)
c.6181_6182del (p.Ile2061ProfsTer6)
c.6178_6179del (p.Ile2060ProfsTer6)
n.6284_6285del
n.6270_6271del
11g.77211305A=CA1984129901MYO7Ac.6205A= (p.Ile2069=)
c.4006A=
c.6058A= (p.Ile2020=)
c.3631A= (p.Ile1211=)
c.6091A= (p.Ile2031=)
n.3741A=
n.25+394A=
n.1672A=
c.6088A= (p.Ile2030=)
c.6196A= (p.Ile2066=)
c.6199A= (p.Ile2067=)
c.6172A= (p.Ile2058=)
c.6109A= (p.Ile2037=)
c.5980A= (p.Ile1994=)
c.5968A= (p.Ile1990=)
c.5941A= (p.Ile1981=)
n.6525A=
n.6499A=
c.6295A= (p.Ile2099=)
c.6289A= (p.Ile2097=)
c.6286A= (p.Ile2096=)
c.6181A= (p.Ile2061=)
c.6178A= (p.Ile2060=)
n.6284A=
n.6270A=
11g.77211305A>CCA381936212MYO7Ac.6205A>C (p.Ile2069Leu)
c.4006A>C
c.6058A>C (p.Ile2020Leu)
c.3631A>C (p.Ile1211Leu)
c.6091A>C (p.Ile2031Leu)
n.3741A>C
n.25+394A>C
n.1672A>C
c.6088A>C (p.Ile2030Leu)
c.6196A>C (p.Ile2066Leu)
c.6199A>C (p.Ile2067Leu)
c.6172A>C (p.Ile2058Leu)
c.6109A>C (p.Ile2037Leu)
c.5980A>C (p.Ile1994Leu)
c.5968A>C (p.Ile1990Leu)
c.5941A>C (p.Ile1981Leu)
n.6525A>C
n.6499A>C
c.6295A>C (p.Ile2099Leu)
c.6289A>C (p.Ile2097Leu)
c.6286A>C (p.Ile2096Leu)
c.6181A>C (p.Ile2061Leu)
c.6178A>C (p.Ile2060Leu)
n.6284A>C
n.6270A>C
11g.77211305A>GCA381936213MYO7Ac.6205A>G (p.Ile2069Val)
c.4006A>G
c.6058A>G (p.Ile2020Val)
c.3631A>G (p.Ile1211Val)
c.6091A>G (p.Ile2031Val)
n.3741A>G
n.25+394A>G
n.1672A>G
c.6088A>G (p.Ile2030Val)
c.6196A>G (p.Ile2066Val)
c.6199A>G (p.Ile2067Val)
c.6172A>G (p.Ile2058Val)
c.6109A>G (p.Ile2037Val)
c.5980A>G (p.Ile1994Val)
c.5968A>G (p.Ile1990Val)
c.5941A>G (p.Ile1981Val)
n.6525A>G
n.6499A>G
c.6295A>G (p.Ile2099Val)
c.6289A>G (p.Ile2097Val)
c.6286A>G (p.Ile2096Val)
c.6181A>G (p.Ile2061Val)
c.6178A>G (p.Ile2060Val)
n.6284A>G
n.6270A>G
 ClinVar
11g.77211305A>TCA224827839MYO7Ac.6205A>T (p.Ile2069Phe)
c.4006A>T
c.6058A>T (p.Ile2020Phe)
c.3631A>T (p.Ile1211Phe)
c.6091A>T (p.Ile2031Phe)
n.3741A>T
n.25+394A>T
n.1672A>T
c.6088A>T (p.Ile2030Phe)
c.6196A>T (p.Ile2066Phe)
c.6199A>T (p.Ile2067Phe)
c.6172A>T (p.Ile2058Phe)
c.6109A>T (p.Ile2037Phe)
c.5980A>T (p.Ile1994Phe)
c.5968A>T (p.Ile1990Phe)
c.5941A>T (p.Ile1981Phe)
n.6525A>T
n.6499A>T
c.6295A>T (p.Ile2099Phe)
c.6289A>T (p.Ile2097Phe)
c.6286A>T (p.Ile2096Phe)
c.6181A>T (p.Ile2061Phe)
c.6178A>T (p.Ile2060Phe)
n.6284A>T
n.6270A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211306T>ACA381936217MYO7Ac.6206T>A (p.Ile2069Asn)
c.4007T>A
c.6059T>A (p.Ile2020Asn)
c.3632T>A (p.Ile1211Asn)
c.6092T>A (p.Ile2031Asn)
n.3742T>A
n.25+395T>A
n.1673T>A
c.6089T>A (p.Ile2030Asn)
c.6197T>A (p.Ile2066Asn)
c.6200T>A (p.Ile2067Asn)
c.6173T>A (p.Ile2058Asn)
c.6110T>A (p.Ile2037Asn)
c.5981T>A (p.Ile1994Asn)
c.5969T>A (p.Ile1990Asn)
c.5942T>A (p.Ile1981Asn)
n.6526T>A
n.6500T>A
c.6296T>A (p.Ile2099Asn)
c.6290T>A (p.Ile2097Asn)
c.6287T>A (p.Ile2096Asn)
c.6182T>A (p.Ile2061Asn)
c.6179T>A (p.Ile2060Asn)
n.6285T>A
n.6271T>A
 dbSNP
11g.77211306T>CCA381936220MYO7Ac.6206T>C (p.Ile2069Thr)
c.4007T>C
c.6059T>C (p.Ile2020Thr)
c.3632T>C (p.Ile1211Thr)
c.6092T>C (p.Ile2031Thr)
n.3742T>C
n.25+395T>C
n.1673T>C
c.6089T>C (p.Ile2030Thr)
c.6197T>C (p.Ile2066Thr)
c.6200T>C (p.Ile2067Thr)
c.6173T>C (p.Ile2058Thr)
c.6110T>C (p.Ile2037Thr)
c.5981T>C (p.Ile1994Thr)
c.5969T>C (p.Ile1990Thr)
c.5942T>C (p.Ile1981Thr)
n.6526T>C
n.6500T>C
c.6296T>C (p.Ile2099Thr)
c.6290T>C (p.Ile2097Thr)
c.6287T>C (p.Ile2096Thr)
c.6182T>C (p.Ile2061Thr)
c.6179T>C (p.Ile2060Thr)
n.6285T>C
n.6271T>C
 gnomAD v4
11g.77211306T>GCA381936221MYO7Ac.6206T>G (p.Ile2069Ser)
c.4007T>G
c.6059T>G (p.Ile2020Ser)
c.3632T>G (p.Ile1211Ser)
c.6092T>G (p.Ile2031Ser)
n.3742T>G
n.25+395T>G
n.1673T>G
c.6089T>G (p.Ile2030Ser)
c.6197T>G (p.Ile2066Ser)
c.6200T>G (p.Ile2067Ser)
c.6173T>G (p.Ile2058Ser)
c.6110T>G (p.Ile2037Ser)
c.5981T>G (p.Ile1994Ser)
c.5969T>G (p.Ile1990Ser)
c.5942T>G (p.Ile1981Ser)
n.6526T>G
n.6500T>G
c.6296T>G (p.Ile2099Ser)
c.6290T>G (p.Ile2097Ser)
c.6287T>G (p.Ile2096Ser)
c.6182T>G (p.Ile2061Ser)
c.6179T>G (p.Ile2060Ser)
n.6285T>G
n.6271T>G
11g.77211306T=CA1984129902MYO7Ac.6206T= (p.Ile2069=)
c.4007T=
c.6059T= (p.Ile2020=)
c.3632T= (p.Ile1211=)
c.6092T= (p.Ile2031=)
n.3742T=
n.25+395T=
n.1673T=
c.6089T= (p.Ile2030=)
c.6197T= (p.Ile2066=)
c.6200T= (p.Ile2067=)
c.6173T= (p.Ile2058=)
c.6110T= (p.Ile2037=)
c.5981T= (p.Ile1994=)
c.5969T= (p.Ile1990=)
c.5942T= (p.Ile1981=)
n.6526T=
n.6500T=
c.6296T= (p.Ile2099=)
c.6290T= (p.Ile2097=)
c.6287T= (p.Ile2096=)
c.6182T= (p.Ile2061=)
c.6179T= (p.Ile2060=)
n.6285T=
n.6271T=
11g.77211307C>ACA475792044MYO7Ac.6207C>A (p.Ile2069=)
c.4008C>A
c.6060C>A (p.Ile2020=)
c.3633C>A (p.Ile1211=)
c.6093C>A (p.Ile2031=)
n.3743C>A
n.25+396C>A
n.1674C>A
c.6090C>A (p.Ile2030=)
c.6198C>A (p.Ile2066=)
c.6201C>A (p.Ile2067=)
c.6174C>A (p.Ile2058=)
c.6111C>A (p.Ile2037=)
c.5982C>A (p.Ile1994=)
c.5970C>A (p.Ile1990=)
c.5943C>A (p.Ile1981=)
n.6527C>A
n.6501C>A
c.6297C>A (p.Ile2099=)
c.6291C>A (p.Ile2097=)
c.6288C>A (p.Ile2096=)
c.6183C>A (p.Ile2061=)
c.6180C>A (p.Ile2060=)
n.6286C>A
n.6272C>A
 gnomAD v4
11g.77211307C=CA1984129903MYO7Ac.6207C= (p.Ile2069=)
c.4008C=
c.6060C= (p.Ile2020=)
c.3633C= (p.Ile1211=)
c.6093C= (p.Ile2031=)
n.3743C=
n.25+396C=
n.1674C=
c.6090C= (p.Ile2030=)
c.6198C= (p.Ile2066=)
c.6201C= (p.Ile2067=)
c.6174C= (p.Ile2058=)
c.6111C= (p.Ile2037=)
c.5982C= (p.Ile1994=)
c.5970C= (p.Ile1990=)
c.5943C= (p.Ile1981=)
n.6527C=
n.6501C=
c.6297C= (p.Ile2099=)
c.6291C= (p.Ile2097=)
c.6288C= (p.Ile2096=)
c.6183C= (p.Ile2061=)
c.6180C= (p.Ile2060=)
n.6286C=
n.6272C=
11g.77211307C>GCA381936224MYO7Ac.6207C>G (p.Ile2069Met)
c.4008C>G
c.6060C>G (p.Ile2020Met)
c.3633C>G (p.Ile1211Met)
c.6093C>G (p.Ile2031Met)
n.3743C>G
n.25+396C>G
n.1674C>G
c.6090C>G (p.Ile2030Met)
c.6198C>G (p.Ile2066Met)
c.6201C>G (p.Ile2067Met)
c.6174C>G (p.Ile2058Met)
c.6111C>G (p.Ile2037Met)
c.5982C>G (p.Ile1994Met)
c.5970C>G (p.Ile1990Met)
c.5943C>G (p.Ile1981Met)
n.6527C>G
n.6501C>G
c.6297C>G (p.Ile2099Met)
c.6291C>G (p.Ile2097Met)
c.6288C>G (p.Ile2096Met)
c.6183C>G (p.Ile2061Met)
c.6180C>G (p.Ile2060Met)
n.6286C>G
n.6272C>G
11g.77211307C>TCA475792045MYO7Ac.6207C>T (p.Ile2069=)
c.4008C>T
c.6060C>T (p.Ile2020=)
c.3633C>T (p.Ile1211=)
c.6093C>T (p.Ile2031=)
n.3743C>T
n.25+396C>T
n.1674C>T
c.6090C>T (p.Ile2030=)
c.6198C>T (p.Ile2066=)
c.6201C>T (p.Ile2067=)
c.6174C>T (p.Ile2058=)
c.6111C>T (p.Ile2037=)
c.5982C>T (p.Ile1994=)
c.5970C>T (p.Ile1990=)
c.5943C>T (p.Ile1981=)
n.6527C>T
n.6501C>T
c.6297C>T (p.Ile2099=)
c.6291C>T (p.Ile2097=)
c.6288C>T (p.Ile2096=)
c.6183C>T (p.Ile2061=)
c.6180C>T (p.Ile2060=)
n.6286C>T
n.6272C>T
 ClinVar dbSNP gnomAD v2
11g.77211308C>ACA475792046MYO7Ac.6208C>A (p.Arg2070=)
c.4009C>A
c.6061C>A (p.Arg2021=)
c.3634C>A (p.Arg1212=)
c.6094C>A (p.Arg2032=)
n.3744C>A
n.25+397C>A
n.1675C>A
c.6091C>A (p.Arg2031=)
c.6199C>A (p.Arg2067=)
c.6202C>A (p.Arg2068=)
c.6175C>A (p.Arg2059=)
c.6112C>A (p.Arg2038=)
c.5983C>A (p.Arg1995=)
c.5971C>A (p.Arg1991=)
c.5944C>A (p.Arg1982=)
n.6528C>A
n.6502C>A
c.6298C>A (p.Arg2100=)
c.6292C>A (p.Arg2098=)
c.6289C>A (p.Arg2097=)
c.6184C>A (p.Arg2062=)
c.6181C>A (p.Arg2061=)
n.6287C>A
n.6273C>A
 gnomAD v4
11g.77211308C=CA1984129904MYO7Ac.6208C= (p.Arg2070=)
c.4009C=
c.6061C= (p.Arg2021=)
c.3634C= (p.Arg1212=)
c.6094C= (p.Arg2032=)
n.3744C=
n.25+397C=
n.1675C=
c.6091C= (p.Arg2031=)
c.6199C= (p.Arg2067=)
c.6202C= (p.Arg2068=)
c.6175C= (p.Arg2059=)
c.6112C= (p.Arg2038=)
c.5983C= (p.Arg1995=)
c.5971C= (p.Arg1991=)
c.5944C= (p.Arg1982=)
n.6528C=
n.6502C=
c.6298C= (p.Arg2100=)
c.6292C= (p.Arg2098=)
c.6289C= (p.Arg2097=)
c.6184C= (p.Arg2062=)
c.6181C= (p.Arg2061=)
n.6287C=
n.6273C=
11g.77211308C>GCA381936227MYO7Ac.6208C>G (p.Arg2070Gly)
c.4009C>G
c.6061C>G (p.Arg2021Gly)
c.3634C>G (p.Arg1212Gly)
c.6094C>G (p.Arg2032Gly)
n.3744C>G
n.25+397C>G
n.1675C>G
c.6091C>G (p.Arg2031Gly)
c.6199C>G (p.Arg2067Gly)
c.6202C>G (p.Arg2068Gly)
c.6175C>G (p.Arg2059Gly)
c.6112C>G (p.Arg2038Gly)
c.5983C>G (p.Arg1995Gly)
c.5971C>G (p.Arg1991Gly)
c.5944C>G (p.Arg1982Gly)
n.6528C>G
n.6502C>G
c.6298C>G (p.Arg2100Gly)
c.6292C>G (p.Arg2098Gly)
c.6289C>G (p.Arg2097Gly)
c.6184C>G (p.Arg2062Gly)
c.6181C>G (p.Arg2061Gly)
n.6287C>G
n.6273C>G
 dbSNP gnomAD v2 gnomAD v4
11g.77211308C>TCA6198951MYO7Ac.6208C>T (p.Arg2070Trp)
c.4009C>T
c.6061C>T (p.Arg2021Trp)
c.3634C>T (p.Arg1212Trp)
c.6094C>T (p.Arg2032Trp)
n.3744C>T
n.25+397C>T
n.1675C>T
c.6091C>T (p.Arg2031Trp)
c.6199C>T (p.Arg2067Trp)
c.6202C>T (p.Arg2068Trp)
c.6175C>T (p.Arg2059Trp)
c.6112C>T (p.Arg2038Trp)
c.5983C>T (p.Arg1995Trp)
c.5971C>T (p.Arg1991Trp)
c.5944C>T (p.Arg1982Trp)
n.6528C>T
n.6502C>T
c.6298C>T (p.Arg2100Trp)
c.6292C>T (p.Arg2098Trp)
c.6289C>T (p.Arg2097Trp)
c.6184C>T (p.Arg2062Trp)
c.6181C>T (p.Arg2061Trp)
n.6287C>T
n.6273C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211309G>ACA132424MYO7Ac.6209G>A (p.Arg2070Gln)
c.4010G>A
c.6062G>A (p.Arg2021Gln)
c.3635G>A (p.Arg1212Gln)
c.6095G>A (p.Arg2032Gln)
n.3745G>A
n.25+398G>A
n.1676G>A
c.6092G>A (p.Arg2031Gln)
c.6200G>A (p.Arg2067Gln)
c.6203G>A (p.Arg2068Gln)
c.6176G>A (p.Arg2059Gln)
c.6113G>A (p.Arg2038Gln)
c.5984G>A (p.Arg1995Gln)
c.5972G>A (p.Arg1991Gln)
c.5945G>A (p.Arg1982Gln)
n.6529G>A
n.6503G>A
c.6299G>A (p.Arg2100Gln)
c.6293G>A (p.Arg2098Gln)
c.6290G>A (p.Arg2097Gln)
c.6185G>A (p.Arg2062Gln)
c.6182G>A (p.Arg2061Gln)
n.6288G>A
n.6274G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211309G>CCA381936232MYO7Ac.6209G>C (p.Arg2070Pro)
c.4010G>C
c.6062G>C (p.Arg2021Pro)
c.3635G>C (p.Arg1212Pro)
c.6095G>C (p.Arg2032Pro)
n.3745G>C
n.25+398G>C
n.1676G>C
c.6092G>C (p.Arg2031Pro)
c.6200G>C (p.Arg2067Pro)
c.6203G>C (p.Arg2068Pro)
c.6176G>C (p.Arg2059Pro)
c.6113G>C (p.Arg2038Pro)
c.5984G>C (p.Arg1995Pro)
c.5972G>C (p.Arg1991Pro)
c.5945G>C (p.Arg1982Pro)
n.6529G>C
n.6503G>C
c.6299G>C (p.Arg2100Pro)
c.6293G>C (p.Arg2098Pro)
c.6290G>C (p.Arg2097Pro)
c.6185G>C (p.Arg2062Pro)
c.6182G>C (p.Arg2061Pro)
n.6288G>C
n.6274G>C
11g.77211309G=CA1984129905MYO7Ac.6209G= (p.Arg2070=)
c.4010G=
c.6062G= (p.Arg2021=)
c.3635G= (p.Arg1212=)
c.6095G= (p.Arg2032=)
n.3745G=
n.25+398G=
n.1676G=
c.6092G= (p.Arg2031=)
c.6200G= (p.Arg2067=)
c.6203G= (p.Arg2068=)
c.6176G= (p.Arg2059=)
c.6113G= (p.Arg2038=)
c.5984G= (p.Arg1995=)
c.5972G= (p.Arg1991=)
c.5945G= (p.Arg1982=)
n.6529G=
n.6503G=
c.6299G= (p.Arg2100=)
c.6293G= (p.Arg2098=)
c.6290G= (p.Arg2097=)
c.6185G= (p.Arg2062=)
c.6182G= (p.Arg2061=)
n.6288G=
n.6274G=
11g.77211309G>TCA381936234MYO7Ac.6209G>T (p.Arg2070Leu)
c.4010G>T
c.6062G>T (p.Arg2021Leu)
c.3635G>T (p.Arg1212Leu)
c.6095G>T (p.Arg2032Leu)
n.3745G>T
n.25+398G>T
n.1676G>T
c.6092G>T (p.Arg2031Leu)
c.6200G>T (p.Arg2067Leu)
c.6203G>T (p.Arg2068Leu)
c.6176G>T (p.Arg2059Leu)
c.6113G>T (p.Arg2038Leu)
c.5984G>T (p.Arg1995Leu)
c.5972G>T (p.Arg1991Leu)
c.5945G>T (p.Arg1982Leu)
n.6529G>T
n.6503G>T
c.6299G>T (p.Arg2100Leu)
c.6293G>T (p.Arg2098Leu)
c.6290G>T (p.Arg2097Leu)
c.6185G>T (p.Arg2062Leu)
c.6182G>T (p.Arg2061Leu)
n.6288G>T
n.6274G>T
 gnomAD v4
11g.77211310G>ACA475792049MYO7Ac.6210G>A (p.Arg2070=)
c.4011G>A
c.6063G>A (p.Arg2021=)
c.3636G>A (p.Arg1212=)
c.6096G>A (p.Arg2032=)
n.3746G>A
n.25+399G>A
n.1677G>A
c.6093G>A (p.Arg2031=)
c.6201G>A (p.Arg2067=)
c.6204G>A (p.Arg2068=)
c.6177G>A (p.Arg2059=)
c.6114G>A (p.Arg2038=)
c.5985G>A (p.Arg1995=)
c.5973G>A (p.Arg1991=)
c.5946G>A (p.Arg1982=)
n.6530G>A
n.6504G>A
c.6300G>A (p.Arg2100=)
c.6294G>A (p.Arg2098=)
c.6291G>A (p.Arg2097=)
c.6186G>A (p.Arg2062=)
c.6183G>A (p.Arg2061=)
n.6289G>A
n.6275G>A
 gnomAD v4
11g.77211310G>CCA475792050MYO7Ac.6210G>C (p.Arg2070=)
c.4011G>C
c.6063G>C (p.Arg2021=)
c.3636G>C (p.Arg1212=)
c.6096G>C (p.Arg2032=)
n.3746G>C
n.25+399G>C
n.1677G>C
c.6093G>C (p.Arg2031=)
c.6201G>C (p.Arg2067=)
c.6204G>C (p.Arg2068=)
c.6177G>C (p.Arg2059=)
c.6114G>C (p.Arg2038=)
c.5985G>C (p.Arg1995=)
c.5973G>C (p.Arg1991=)
c.5946G>C (p.Arg1982=)
n.6530G>C
n.6504G>C
c.6300G>C (p.Arg2100=)
c.6294G>C (p.Arg2098=)
c.6291G>C (p.Arg2097=)
c.6186G>C (p.Arg2062=)
c.6183G>C (p.Arg2061=)
n.6289G>C
n.6275G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211310G=CA1984129906MYO7Ac.6210G= (p.Arg2070=)
c.4011G=
c.6063G= (p.Arg2021=)
c.3636G= (p.Arg1212=)
c.6096G= (p.Arg2032=)
n.3746G=
n.25+399G=
n.1677G=
c.6093G= (p.Arg2031=)
c.6201G= (p.Arg2067=)
c.6204G= (p.Arg2068=)
c.6177G= (p.Arg2059=)
c.6114G= (p.Arg2038=)
c.5985G= (p.Arg1995=)
c.5973G= (p.Arg1991=)
c.5946G= (p.Arg1982=)
n.6530G=
n.6504G=
c.6300G= (p.Arg2100=)
c.6294G= (p.Arg2098=)
c.6291G= (p.Arg2097=)
c.6186G= (p.Arg2062=)
c.6183G= (p.Arg2061=)
n.6289G=
n.6275G=
11g.77211310G>TCA475792051MYO7Ac.6210G>T (p.Arg2070=)
c.4011G>T
c.6063G>T (p.Arg2021=)
c.3636G>T (p.Arg1212=)
c.6096G>T (p.Arg2032=)
n.3746G>T
n.25+399G>T
n.1677G>T
c.6093G>T (p.Arg2031=)
c.6201G>T (p.Arg2067=)
c.6204G>T (p.Arg2068=)
c.6177G>T (p.Arg2059=)
c.6114G>T (p.Arg2038=)
c.5985G>T (p.Arg1995=)
c.5973G>T (p.Arg1991=)
c.5946G>T (p.Arg1982=)
n.6530G>T
n.6504G>T
c.6300G>T (p.Arg2100=)
c.6294G>T (p.Arg2098=)
c.6291G>T (p.Arg2097=)
c.6186G>T (p.Arg2062=)
c.6183G>T (p.Arg2061=)
n.6289G>T
n.6275G>T
 gnomAD v4
11g.77211310_77211311delinsATCA645584045MYO7Ac.6210_6211delinsAT (p.Arg2071Ter)
c.4011_4012delinsAT
c.6063_6064delinsAT (p.Arg2022Ter)
c.3636_3637delinsAT (p.Arg1213Ter)
c.6096_6097delinsAT (p.Arg2033Ter)
n.3746_3747delinsAT
n.25+399_25+400delinsAT
n.1677_1678delinsAT
c.6093_6094delinsAT (p.Arg2032Ter)
c.6201_6202delinsAT (p.Arg2068Ter)
c.6204_6205delinsAT (p.Arg2069Ter)
c.6177_6178delinsAT (p.Arg2060Ter)
c.6114_6115delinsAT (p.Arg2039Ter)
c.5985_5986delinsAT (p.Arg1996Ter)
c.5973_5974delinsAT (p.Arg1992Ter)
c.5946_5947delinsAT (p.Arg1983Ter)
n.6530_6531delinsAT
n.6504_6505delinsAT
c.6300_6301delinsAT (p.Arg2101Ter)
c.6294_6295delinsAT (p.Arg2099Ter)
c.6291_6292delinsAT (p.Arg2098Ter)
c.6186_6187delinsAT (p.Arg2063Ter)
c.6183_6184delinsAT (p.Arg2062Ter)
n.6289_6290delinsAT
n.6275_6276delinsAT
 COSMIC
11g.77211311C>ACA381936237MYO7Ac.6211C>A (p.Gln2071Lys)
c.4012C>A
c.6064C>A (p.Gln2022Lys)
c.3637C>A (p.Gln1213Lys)
c.6097C>A (p.Gln2033Lys)
n.3747C>A
n.25+400C>A
n.1678C>A
c.6094C>A (p.Gln2032Lys)
c.6202C>A (p.Gln2068Lys)
c.6205C>A (p.Gln2069Lys)
c.6178C>A (p.Gln2060Lys)
c.6115C>A (p.Gln2039Lys)
c.5986C>A (p.Gln1996Lys)
c.5974C>A (p.Gln1992Lys)
c.5947C>A (p.Gln1983Lys)
n.6531C>A
n.6505C>A
c.6301C>A (p.Gln2101Lys)
c.6295C>A (p.Gln2099Lys)
c.6292C>A (p.Gln2098Lys)
c.6187C>A (p.Gln2063Lys)
c.6184C>A (p.Gln2062Lys)
n.6290C>A
n.6276C>A
 gnomAD v4
11g.77211311C=CA1984129907MYO7Ac.6211C= (p.Gln2071=)
c.4012C=
c.6064C= (p.Gln2022=)
c.3637C= (p.Gln1213=)
c.6097C= (p.Gln2033=)
n.3747C=
n.25+400C=
n.1678C=
c.6094C= (p.Gln2032=)
c.6202C= (p.Gln2068=)
c.6205C= (p.Gln2069=)
c.6178C= (p.Gln2060=)
c.6115C= (p.Gln2039=)
c.5986C= (p.Gln1996=)
c.5974C= (p.Gln1992=)
c.5947C= (p.Gln1983=)
n.6531C=
n.6505C=
c.6301C= (p.Gln2101=)
c.6295C= (p.Gln2099=)
c.6292C= (p.Gln2098=)
c.6187C= (p.Gln2063=)
c.6184C= (p.Gln2062=)
n.6290C=
n.6276C=
11g.77211311C>GCA381936239MYO7Ac.6211C>G (p.Gln2071Glu)
c.4012C>G
c.6064C>G (p.Gln2022Glu)
c.3637C>G (p.Gln1213Glu)
c.6097C>G (p.Gln2033Glu)
n.3747C>G
n.25+400C>G
n.1678C>G
c.6094C>G (p.Gln2032Glu)
c.6202C>G (p.Gln2068Glu)
c.6205C>G (p.Gln2069Glu)
c.6178C>G (p.Gln2060Glu)
c.6115C>G (p.Gln2039Glu)
c.5986C>G (p.Gln1996Glu)
c.5974C>G (p.Gln1992Glu)
c.5947C>G (p.Gln1983Glu)
n.6531C>G
n.6505C>G
c.6301C>G (p.Gln2101Glu)
c.6295C>G (p.Gln2099Glu)
c.6292C>G (p.Gln2098Glu)
c.6187C>G (p.Gln2063Glu)
c.6184C>G (p.Gln2062Glu)
n.6290C>G
n.6276C>G
 gnomAD v4
11g.77211311C>TCA16609578MYO7Ac.6211C>T (p.Gln2071Ter)
c.4012C>T
c.6064C>T (p.Gln2022Ter)
c.3637C>T (p.Gln1213Ter)
c.6097C>T (p.Gln2033Ter)
n.3747C>T
n.25+400C>T
n.1678C>T
c.6094C>T (p.Gln2032Ter)
c.6202C>T (p.Gln2068Ter)
c.6205C>T (p.Gln2069Ter)
c.6178C>T (p.Gln2060Ter)
c.6115C>T (p.Gln2039Ter)
c.5986C>T (p.Gln1996Ter)
c.5974C>T (p.Gln1992Ter)
c.5947C>T (p.Gln1983Ter)
n.6531C>T
n.6505C>T
c.6301C>T (p.Gln2101Ter)
c.6295C>T (p.Gln2099Ter)
c.6292C>T (p.Gln2098Ter)
c.6187C>T (p.Gln2063Ter)
c.6184C>T (p.Gln2062Ter)
n.6290C>T
n.6276C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211312A>CCA381936243MYO7Ac.6212A>C (p.Gln2071Pro)
c.4013A>C
c.6065A>C (p.Gln2022Pro)
c.3638A>C (p.Gln1213Pro)
c.6098A>C (p.Gln2033Pro)
n.3748A>C
n.25+401A>C
n.1679A>C
c.6095A>C (p.Gln2032Pro)
c.6203A>C (p.Gln2068Pro)
c.6206A>C (p.Gln2069Pro)
c.6179A>C (p.Gln2060Pro)
c.6116A>C (p.Gln2039Pro)
c.5987A>C (p.Gln1996Pro)
c.5975A>C (p.Gln1992Pro)
c.5948A>C (p.Gln1983Pro)
n.6532A>C
n.6506A>C
c.6302A>C (p.Gln2101Pro)
c.6296A>C (p.Gln2099Pro)
c.6293A>C (p.Gln2098Pro)
c.6188A>C (p.Gln2063Pro)
c.6185A>C (p.Gln2062Pro)
n.6291A>C
n.6277A>C
11g.77211312A>GCA381936245MYO7Ac.6212A>G (p.Gln2071Arg)
c.4013A>G
c.6065A>G (p.Gln2022Arg)
c.3638A>G (p.Gln1213Arg)
c.6098A>G (p.Gln2033Arg)
n.3748A>G
n.25+401A>G
n.1679A>G
c.6095A>G (p.Gln2032Arg)
c.6203A>G (p.Gln2068Arg)
c.6206A>G (p.Gln2069Arg)
c.6179A>G (p.Gln2060Arg)
c.6116A>G (p.Gln2039Arg)
c.5987A>G (p.Gln1996Arg)
c.5975A>G (p.Gln1992Arg)
c.5948A>G (p.Gln1983Arg)
n.6532A>G
n.6506A>G
c.6302A>G (p.Gln2101Arg)
c.6296A>G (p.Gln2099Arg)
c.6293A>G (p.Gln2098Arg)
c.6188A>G (p.Gln2063Arg)
c.6185A>G (p.Gln2062Arg)
n.6291A>G
n.6277A>G
11g.77211312A>TCA381936247MYO7Ac.6212A>T (p.Gln2071Leu)
c.4013A>T
c.6065A>T (p.Gln2022Leu)
c.3638A>T (p.Gln1213Leu)
c.6098A>T (p.Gln2033Leu)
n.3748A>T
n.25+401A>T
n.1679A>T
c.6095A>T (p.Gln2032Leu)
c.6203A>T (p.Gln2068Leu)
c.6206A>T (p.Gln2069Leu)
c.6179A>T (p.Gln2060Leu)
c.6116A>T (p.Gln2039Leu)
c.5987A>T (p.Gln1996Leu)
c.5975A>T (p.Gln1992Leu)
c.5948A>T (p.Gln1983Leu)
n.6532A>T
n.6506A>T
c.6302A>T (p.Gln2101Leu)
c.6296A>T (p.Gln2099Leu)
c.6293A>T (p.Gln2098Leu)
c.6188A>T (p.Gln2063Leu)
c.6185A>T (p.Gln2062Leu)
n.6291A>T
n.6277A>T
11g.77211313G>ACA475792055MYO7Ac.6213G>A (p.Gln2071=)
c.4014G>A
c.6066G>A (p.Gln2022=)
c.3639G>A (p.Gln1213=)
c.6099G>A (p.Gln2033=)
n.3749G>A
n.25+402G>A
n.1680G>A
c.6096G>A (p.Gln2032=)
c.6204G>A (p.Gln2068=)
c.6207G>A (p.Gln2069=)
c.6180G>A (p.Gln2060=)
c.6117G>A (p.Gln2039=)
c.5988G>A (p.Gln1996=)
c.5976G>A (p.Gln1992=)
c.5949G>A (p.Gln1983=)
n.6533G>A
n.6507G>A
c.6303G>A (p.Gln2101=)
c.6297G>A (p.Gln2099=)
c.6294G>A (p.Gln2098=)
c.6189G>A (p.Gln2063=)
c.6186G>A (p.Gln2062=)
n.6292G>A
n.6278G>A
 gnomAD v4
11g.77211313G>CCA381936250MYO7Ac.6213G>C (p.Gln2071His)
c.4014G>C
c.6066G>C (p.Gln2022His)
c.3639G>C (p.Gln1213His)
c.6099G>C (p.Gln2033His)
n.3749G>C
n.25+402G>C
n.1680G>C
c.6096G>C (p.Gln2032His)
c.6204G>C (p.Gln2068His)
c.6207G>C (p.Gln2069His)
c.6180G>C (p.Gln2060His)
c.6117G>C (p.Gln2039His)
c.5988G>C (p.Gln1996His)
c.5976G>C (p.Gln1992His)
c.5949G>C (p.Gln1983His)
n.6533G>C
n.6507G>C
c.6303G>C (p.Gln2101His)
c.6297G>C (p.Gln2099His)
c.6294G>C (p.Gln2098His)
c.6189G>C (p.Gln2063His)
c.6186G>C (p.Gln2062His)
n.6292G>C
n.6278G>C
11g.77211313G>TCA381936252MYO7Ac.6213G>T (p.Gln2071His)
c.4014G>T
c.6066G>T (p.Gln2022His)
c.3639G>T (p.Gln1213His)
c.6099G>T (p.Gln2033His)
n.3749G>T
n.25+402G>T
n.1680G>T
c.6096G>T (p.Gln2032His)
c.6204G>T (p.Gln2068His)
c.6207G>T (p.Gln2069His)
c.6180G>T (p.Gln2060His)
c.6117G>T (p.Gln2039His)
c.5988G>T (p.Gln1996His)
c.5976G>T (p.Gln1992His)
c.5949G>T (p.Gln1983His)
n.6533G>T
n.6507G>T
c.6303G>T (p.Gln2101His)
c.6297G>T (p.Gln2099His)
c.6294G>T (p.Gln2098His)
c.6189G>T (p.Gln2063His)
c.6186G>T (p.Gln2062His)
n.6292G>T
n.6278G>T
11g.77211314G>ACA132426MYO7Ac.6214G>A (p.Val2072Ile)
c.4015G>A
c.6067G>A (p.Val2023Ile)
c.3640G>A (p.Val1214Ile)
c.6100G>A (p.Val2034Ile)
n.3750G>A
n.25+403G>A
n.1681G>A
c.6097G>A (p.Val2033Ile)
c.6205G>A (p.Val2069Ile)
c.6208G>A (p.Val2070Ile)
c.6181G>A (p.Val2061Ile)
c.6118G>A (p.Val2040Ile)
c.5989G>A (p.Val1997Ile)
c.5977G>A (p.Val1993Ile)
c.5950G>A (p.Val1984Ile)
n.6534G>A
n.6508G>A
c.6304G>A (p.Val2102Ile)
c.6298G>A (p.Val2100Ile)
c.6295G>A (p.Val2099Ile)
c.6190G>A (p.Val2064Ile)
c.6187G>A (p.Val2063Ile)
n.6293G>A
n.6279G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211314G>CCA381936255MYO7Ac.6214G>C (p.Val2072Leu)
c.4015G>C
c.6067G>C (p.Val2023Leu)
c.3640G>C (p.Val1214Leu)
c.6100G>C (p.Val2034Leu)
n.3750G>C
n.25+403G>C
n.1681G>C
c.6097G>C (p.Val2033Leu)
c.6205G>C (p.Val2069Leu)
c.6208G>C (p.Val2070Leu)
c.6181G>C (p.Val2061Leu)
c.6118G>C (p.Val2040Leu)
c.5989G>C (p.Val1997Leu)
c.5977G>C (p.Val1993Leu)
c.5950G>C (p.Val1984Leu)
n.6534G>C
n.6508G>C
c.6304G>C (p.Val2102Leu)
c.6298G>C (p.Val2100Leu)
c.6295G>C (p.Val2099Leu)
c.6190G>C (p.Val2064Leu)
c.6187G>C (p.Val2063Leu)
n.6293G>C
n.6279G>C
11g.77211314G=CA1984129908MYO7Ac.6214G= (p.Val2072=)
c.4015G=
c.6067G= (p.Val2023=)
c.3640G= (p.Val1214=)
c.6100G= (p.Val2034=)
n.3750G=
n.25+403G=
n.1681G=
c.6097G= (p.Val2033=)
c.6205G= (p.Val2069=)
c.6208G= (p.Val2070=)
c.6181G= (p.Val2061=)
c.6118G= (p.Val2040=)
c.5989G= (p.Val1997=)
c.5977G= (p.Val1993=)
c.5950G= (p.Val1984=)
n.6534G=
n.6508G=
c.6304G= (p.Val2102=)
c.6298G= (p.Val2100=)
c.6295G= (p.Val2099=)
c.6190G= (p.Val2064=)
c.6187G= (p.Val2063=)
n.6293G=
n.6279G=
11g.77211314G>TCA381936254MYO7Ac.6214G>T (p.Val2072Phe)
c.4015G>T
c.6067G>T (p.Val2023Phe)
c.3640G>T (p.Val1214Phe)
c.6100G>T (p.Val2034Phe)
n.3750G>T
n.25+403G>T
n.1681G>T
c.6097G>T (p.Val2033Phe)
c.6205G>T (p.Val2069Phe)
c.6208G>T (p.Val2070Phe)
c.6181G>T (p.Val2061Phe)
c.6118G>T (p.Val2040Phe)
c.5989G>T (p.Val1997Phe)
c.5977G>T (p.Val1993Phe)
c.5950G>T (p.Val1984Phe)
n.6534G>T
n.6508G>T
c.6304G>T (p.Val2102Phe)
c.6298G>T (p.Val2100Phe)
c.6295G>T (p.Val2099Phe)
c.6190G>T (p.Val2064Phe)
c.6187G>T (p.Val2063Phe)
n.6293G>T
n.6279G>T
 dbSNP gnomAD v4
11g.77211315T>ACA381936259MYO7Ac.6215T>A (p.Val2072Asp)
c.4016T>A
c.6068T>A (p.Val2023Asp)
c.3641T>A (p.Val1214Asp)
c.6101T>A (p.Val2034Asp)
n.3751T>A
n.25+404T>A
n.1682T>A
c.6098T>A (p.Val2033Asp)
c.6206T>A (p.Val2069Asp)
c.6209T>A (p.Val2070Asp)
c.6182T>A (p.Val2061Asp)
c.6119T>A (p.Val2040Asp)
c.5990T>A (p.Val1997Asp)
c.5978T>A (p.Val1993Asp)
c.5951T>A (p.Val1984Asp)
n.6535T>A
n.6509T>A
c.6305T>A (p.Val2102Asp)
c.6299T>A (p.Val2100Asp)
c.6296T>A (p.Val2099Asp)
c.6191T>A (p.Val2064Asp)
c.6188T>A (p.Val2063Asp)
n.6294T>A
n.6280T>A
11g.77211315T>CCA381936260MYO7Ac.6215T>C (p.Val2072Ala)
c.4016T>C
c.6068T>C (p.Val2023Ala)
c.3641T>C (p.Val1214Ala)
c.6101T>C (p.Val2034Ala)
n.3751T>C
n.25+404T>C
n.1682T>C
c.6098T>C (p.Val2033Ala)
c.6206T>C (p.Val2069Ala)
c.6209T>C (p.Val2070Ala)
c.6182T>C (p.Val2061Ala)
c.6119T>C (p.Val2040Ala)
c.5990T>C (p.Val1997Ala)
c.5978T>C (p.Val1993Ala)
c.5951T>C (p.Val1984Ala)
n.6535T>C
n.6509T>C
c.6305T>C (p.Val2102Ala)
c.6299T>C (p.Val2100Ala)
c.6296T>C (p.Val2099Ala)
c.6191T>C (p.Val2064Ala)
c.6188T>C (p.Val2063Ala)
n.6294T>C
n.6280T>C
11g.77211315T>GCA381936263MYO7Ac.6215T>G (p.Val2072Gly)
c.4016T>G
c.6068T>G (p.Val2023Gly)
c.3641T>G (p.Val1214Gly)
c.6101T>G (p.Val2034Gly)
n.3751T>G
n.25+404T>G
n.1682T>G
c.6098T>G (p.Val2033Gly)
c.6206T>G (p.Val2069Gly)
c.6209T>G (p.Val2070Gly)
c.6182T>G (p.Val2061Gly)
c.6119T>G (p.Val2040Gly)
c.5990T>G (p.Val1997Gly)
c.5978T>G (p.Val1993Gly)
c.5951T>G (p.Val1984Gly)
n.6535T>G
n.6509T>G
c.6305T>G (p.Val2102Gly)
c.6299T>G (p.Val2100Gly)
c.6296T>G (p.Val2099Gly)
c.6191T>G (p.Val2064Gly)
c.6188T>G (p.Val2063Gly)
n.6294T>G
n.6280T>G
 dbSNP
11g.77211315T=CA1984129909MYO7Ac.6215T= (p.Val2072=)
c.4016T=
c.6068T= (p.Val2023=)
c.3641T= (p.Val1214=)
c.6101T= (p.Val2034=)
n.3751T=
n.25+404T=
n.1682T=
c.6098T= (p.Val2033=)
c.6206T= (p.Val2069=)
c.6209T= (p.Val2070=)
c.6182T= (p.Val2061=)
c.6119T= (p.Val2040=)
c.5990T= (p.Val1997=)
c.5978T= (p.Val1993=)
c.5951T= (p.Val1984=)
n.6535T=
n.6509T=
c.6305T= (p.Val2102=)
c.6299T= (p.Val2100=)
c.6296T= (p.Val2099=)
c.6191T= (p.Val2064=)
c.6188T= (p.Val2063=)
n.6294T=
n.6280T=
11g.77211316C>ACA475792061MYO7Ac.6216C>A (p.Val2072=)
c.4017C>A
c.6069C>A (p.Val2023=)
c.3642C>A (p.Val1214=)
c.6102C>A (p.Val2034=)
n.3752C>A
n.25+405C>A
n.1683C>A
c.6099C>A (p.Val2033=)
c.6207C>A (p.Val2069=)
c.6210C>A (p.Val2070=)
c.6183C>A (p.Val2061=)
c.6120C>A (p.Val2040=)
c.5991C>A (p.Val1997=)
c.5979C>A (p.Val1993=)
c.5952C>A (p.Val1984=)
n.6536C>A
n.6510C>A
c.6306C>A (p.Val2102=)
c.6300C>A (p.Val2100=)
c.6297C>A (p.Val2099=)
c.6192C>A (p.Val2064=)
c.6189C>A (p.Val2063=)
n.6295C>A
n.6281C>A
 gnomAD v4
11g.77211316C=CA1984129910MYO7Ac.6216C= (p.Val2072=)
c.4017C=
c.6069C= (p.Val2023=)
c.3642C= (p.Val1214=)
c.6102C= (p.Val2034=)
n.3752C=
n.25+405C=
n.1683C=
c.6099C= (p.Val2033=)
c.6207C= (p.Val2069=)
c.6210C= (p.Val2070=)
c.6183C= (p.Val2061=)
c.6120C= (p.Val2040=)
c.5991C= (p.Val1997=)
c.5979C= (p.Val1993=)
c.5952C= (p.Val1984=)
n.6536C=
n.6510C=
c.6306C= (p.Val2102=)
c.6300C= (p.Val2100=)
c.6297C= (p.Val2099=)
c.6192C= (p.Val2064=)
c.6189C= (p.Val2063=)
n.6295C=
n.6281C=
11g.77211316C>GCA475792060MYO7Ac.6216C>G (p.Val2072=)
c.4017C>G
c.6069C>G (p.Val2023=)
c.3642C>G (p.Val1214=)
c.6102C>G (p.Val2034=)
n.3752C>G
n.25+405C>G
n.1683C>G
c.6099C>G (p.Val2033=)
c.6207C>G (p.Val2069=)
c.6210C>G (p.Val2070=)
c.6183C>G (p.Val2061=)
c.6120C>G (p.Val2040=)
c.5991C>G (p.Val1997=)
c.5979C>G (p.Val1993=)
c.5952C>G (p.Val1984=)
n.6536C>G
n.6510C>G
c.6306C>G (p.Val2102=)
c.6300C>G (p.Val2100=)
c.6297C>G (p.Val2099=)
c.6192C>G (p.Val2064=)
c.6189C>G (p.Val2063=)
n.6295C>G
n.6281C>G
11g.77211316C>TCA475792059MYO7Ac.6216C>T (p.Val2072=)
c.4017C>T
c.6069C>T (p.Val2023=)
c.3642C>T (p.Val1214=)
c.6102C>T (p.Val2034=)
n.3752C>T
n.25+405C>T
n.1683C>T
c.6099C>T (p.Val2033=)
c.6207C>T (p.Val2069=)
c.6210C>T (p.Val2070=)
c.6183C>T (p.Val2061=)
c.6120C>T (p.Val2040=)
c.5991C>T (p.Val1997=)
c.5979C>T (p.Val1993=)
c.5952C>T (p.Val1984=)
n.6536C>T
n.6510C>T
c.6306C>T (p.Val2102=)
c.6300C>T (p.Val2100=)
c.6297C>T (p.Val2099=)
c.6192C>T (p.Val2064=)
c.6189C>T (p.Val2063=)
n.6295C>T
n.6281C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211317T>ACA381936267MYO7Ac.6217T>A (p.Ser2073Thr)
c.4018T>A
c.6070T>A (p.Ser2024Thr)
c.3643T>A (p.Ser1215Thr)
c.6103T>A (p.Ser2035Thr)
n.3753T>A
n.25+406T>A
n.1684T>A
c.6100T>A (p.Ser2034Thr)
c.6208T>A (p.Ser2070Thr)
c.6211T>A (p.Ser2071Thr)
c.6184T>A (p.Ser2062Thr)
c.6121T>A (p.Ser2041Thr)
c.5992T>A (p.Ser1998Thr)
c.5980T>A (p.Ser1994Thr)
c.5953T>A (p.Ser1985Thr)
n.6537T>A
n.6511T>A
c.6307T>A (p.Ser2103Thr)
c.6301T>A (p.Ser2101Thr)
c.6298T>A (p.Ser2100Thr)
c.6193T>A (p.Ser2065Thr)
c.6190T>A (p.Ser2064Thr)
n.6296T>A
n.6282T>A
11g.77211317T>CCA381936269MYO7Ac.6217T>C (p.Ser2073Pro)
c.4018T>C
c.6070T>C (p.Ser2024Pro)
c.3643T>C (p.Ser1215Pro)
c.6103T>C (p.Ser2035Pro)
n.3753T>C
n.25+406T>C
n.1684T>C
c.6100T>C (p.Ser2034Pro)
c.6208T>C (p.Ser2070Pro)
c.6211T>C (p.Ser2071Pro)
c.6184T>C (p.Ser2062Pro)
c.6121T>C (p.Ser2041Pro)
c.5992T>C (p.Ser1998Pro)
c.5980T>C (p.Ser1994Pro)
c.5953T>C (p.Ser1985Pro)
n.6537T>C
n.6511T>C
c.6307T>C (p.Ser2103Pro)
c.6301T>C (p.Ser2101Pro)
c.6298T>C (p.Ser2100Pro)
c.6193T>C (p.Ser2065Pro)
c.6190T>C (p.Ser2064Pro)
n.6296T>C
n.6282T>C
 gnomAD v4
11g.77211317T>GCA381936271MYO7Ac.6217T>G (p.Ser2073Ala)
c.4018T>G
c.6070T>G (p.Ser2024Ala)
c.3643T>G (p.Ser1215Ala)
c.6103T>G (p.Ser2035Ala)
n.3753T>G
n.25+406T>G
n.1684T>G
c.6100T>G (p.Ser2034Ala)
c.6208T>G (p.Ser2070Ala)
c.6211T>G (p.Ser2071Ala)
c.6184T>G (p.Ser2062Ala)
c.6121T>G (p.Ser2041Ala)
c.5992T>G (p.Ser1998Ala)
c.5980T>G (p.Ser1994Ala)
c.5953T>G (p.Ser1985Ala)
n.6537T>G
n.6511T>G
c.6307T>G (p.Ser2103Ala)
c.6301T>G (p.Ser2101Ala)
c.6298T>G (p.Ser2100Ala)
c.6193T>G (p.Ser2065Ala)
c.6190T>G (p.Ser2064Ala)
n.6296T>G
n.6282T>G
11g.77211318C>ACA381936274MYO7Ac.6218C>A (p.Ser2073Ter)
c.4019C>A
c.6071C>A (p.Ser2024Ter)
c.3644C>A (p.Ser1215Ter)
c.6104C>A (p.Ser2035Ter)
n.3754C>A
n.25+407C>A
n.1685C>A
c.6101C>A (p.Ser2034Ter)
c.6209C>A (p.Ser2070Ter)
c.6212C>A (p.Ser2071Ter)
c.6185C>A (p.Ser2062Ter)
c.6122C>A (p.Ser2041Ter)
c.5993C>A (p.Ser1998Ter)
c.5981C>A (p.Ser1994Ter)
c.5954C>A (p.Ser1985Ter)
n.6538C>A
n.6512C>A
c.6308C>A (p.Ser2103Ter)
c.6302C>A (p.Ser2101Ter)
c.6299C>A (p.Ser2100Ter)
c.6194C>A (p.Ser2065Ter)
c.6191C>A (p.Ser2064Ter)
n.6297C>A
n.6283C>A
 gnomAD v4
11g.77211318C=CA1984129911MYO7Ac.6218C= (p.Ser2073=)
c.4019C=
c.6071C= (p.Ser2024=)
c.3644C= (p.Ser1215=)
c.6104C= (p.Ser2035=)
n.3754C=
n.25+407C=
n.1685C=
c.6101C= (p.Ser2034=)
c.6209C= (p.Ser2070=)
c.6212C= (p.Ser2071=)
c.6185C= (p.Ser2062=)
c.6122C= (p.Ser2041=)
c.5993C= (p.Ser1998=)
c.5981C= (p.Ser1994=)
c.5954C= (p.Ser1985=)
n.6538C=
n.6512C=
c.6308C= (p.Ser2103=)
c.6302C= (p.Ser2101=)
c.6299C= (p.Ser2100=)
c.6194C= (p.Ser2065=)
c.6191C= (p.Ser2064=)
n.6297C=
n.6283C=
11g.77211318C>GCA381936276MYO7Ac.6218C>G (p.Ser2073Ter)
c.4019C>G
c.6071C>G (p.Ser2024Ter)
c.3644C>G (p.Ser1215Ter)
c.6104C>G (p.Ser2035Ter)
n.3754C>G
n.25+407C>G
n.1685C>G
c.6101C>G (p.Ser2034Ter)
c.6209C>G (p.Ser2070Ter)
c.6212C>G (p.Ser2071Ter)
c.6185C>G (p.Ser2062Ter)
c.6122C>G (p.Ser2041Ter)
c.5993C>G (p.Ser1998Ter)
c.5981C>G (p.Ser1994Ter)
c.5954C>G (p.Ser1985Ter)
n.6538C>G
n.6512C>G
c.6308C>G (p.Ser2103Ter)
c.6302C>G (p.Ser2101Ter)
c.6299C>G (p.Ser2100Ter)
c.6194C>G (p.Ser2065Ter)
c.6191C>G (p.Ser2064Ter)
n.6297C>G
n.6283C>G
 gnomAD v4
11g.77211318C>TCA381936278MYO7Ac.6218C>T (p.Ser2073Leu)
c.4019C>T
c.6071C>T (p.Ser2024Leu)
c.3644C>T (p.Ser1215Leu)
c.6104C>T (p.Ser2035Leu)
n.3754C>T
n.25+407C>T
n.1685C>T
c.6101C>T (p.Ser2034Leu)
c.6209C>T (p.Ser2070Leu)
c.6212C>T (p.Ser2071Leu)
c.6185C>T (p.Ser2062Leu)
c.6122C>T (p.Ser2041Leu)
c.5993C>T (p.Ser1998Leu)
c.5981C>T (p.Ser1994Leu)
c.5954C>T (p.Ser1985Leu)
n.6538C>T
n.6512C>T
c.6308C>T (p.Ser2103Leu)
c.6302C>T (p.Ser2101Leu)
c.6299C>T (p.Ser2100Leu)
c.6194C>T (p.Ser2065Leu)
c.6191C>T (p.Ser2064Leu)
n.6297C>T
n.6283C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211319A>CCA475792063MYO7Ac.6219A>C (p.Ser2073=)
c.4020A>C
c.6072A>C (p.Ser2024=)
c.3645A>C (p.Ser1215=)
c.6105A>C (p.Ser2035=)
n.3755A>C
n.25+408A>C
n.1686A>C
c.6102A>C (p.Ser2034=)
c.6210A>C (p.Ser2070=)
c.6213A>C (p.Ser2071=)
c.6186A>C (p.Ser2062=)
c.6123A>C (p.Ser2041=)
c.5994A>C (p.Ser1998=)
c.5982A>C (p.Ser1994=)
c.5955A>C (p.Ser1985=)
n.6539A>C
n.6513A>C
c.6309A>C (p.Ser2103=)
c.6303A>C (p.Ser2101=)
c.6300A>C (p.Ser2100=)
c.6195A>C (p.Ser2065=)
c.6192A>C (p.Ser2064=)
n.6298A>C
n.6284A>C
 gnomAD v4
11g.77211319A>GCA475792064MYO7Ac.6219A>G (p.Ser2073=)
c.4020A>G
c.6072A>G (p.Ser2024=)
c.3645A>G (p.Ser1215=)
c.6105A>G (p.Ser2035=)
n.3755A>G
n.25+408A>G
n.1686A>G
c.6102A>G (p.Ser2034=)
c.6210A>G (p.Ser2070=)
c.6213A>G (p.Ser2071=)
c.6186A>G (p.Ser2062=)
c.6123A>G (p.Ser2041=)
c.5994A>G (p.Ser1998=)
c.5982A>G (p.Ser1994=)
c.5955A>G (p.Ser1985=)
n.6539A>G
n.6513A>G
c.6309A>G (p.Ser2103=)
c.6303A>G (p.Ser2101=)
c.6300A>G (p.Ser2100=)
c.6195A>G (p.Ser2065=)
c.6192A>G (p.Ser2064=)
n.6298A>G
n.6284A>G
 ClinVar gnomAD v4
11g.77211319A>TCA475792065MYO7Ac.6219A>T (p.Ser2073=)
c.4020A>T
c.6072A>T (p.Ser2024=)
c.3645A>T (p.Ser1215=)
c.6105A>T (p.Ser2035=)
n.3755A>T
n.25+408A>T
n.1686A>T
c.6102A>T (p.Ser2034=)
c.6210A>T (p.Ser2070=)
c.6213A>T (p.Ser2071=)
c.6186A>T (p.Ser2062=)
c.6123A>T (p.Ser2041=)
c.5994A>T (p.Ser1998=)
c.5982A>T (p.Ser1994=)
c.5955A>T (p.Ser1985=)
n.6539A>T
n.6513A>T
c.6309A>T (p.Ser2103=)
c.6303A>T (p.Ser2101=)
c.6300A>T (p.Ser2100=)
c.6195A>T (p.Ser2065=)
c.6192A>T (p.Ser2064=)
n.6298A>T
n.6284A>T
 ClinVar dbSNP gnomAD v4
11g.77211320C>ACA381936281MYO7Ac.6220C>A (p.Pro2074Thr)
c.4021C>A
c.6073C>A (p.Pro2025Thr)
c.3646C>A (p.Pro1216Thr)
c.6106C>A (p.Pro2036Thr)
n.3756C>A
n.25+409C>A
n.1687C>A
c.6103C>A (p.Pro2035Thr)
c.6211C>A (p.Pro2071Thr)
c.6214C>A (p.Pro2072Thr)
c.6187C>A (p.Pro2063Thr)
c.6124C>A (p.Pro2042Thr)
c.5995C>A (p.Pro1999Thr)
c.5983C>A (p.Pro1995Thr)
c.5956C>A (p.Pro1986Thr)
n.6540C>A
n.6514C>A
c.6310C>A (p.Pro2104Thr)
c.6304C>A (p.Pro2102Thr)
c.6301C>A (p.Pro2101Thr)
c.6196C>A (p.Pro2066Thr)
c.6193C>A (p.Pro2065Thr)
n.6299C>A
n.6285C>A
 gnomAD v4
11g.77211320C=CA1984129912MYO7Ac.6220C= (p.Pro2074=)
c.4021C=
c.6073C= (p.Pro2025=)
c.3646C= (p.Pro1216=)
c.6106C= (p.Pro2036=)
n.3756C=
n.25+409C=
n.1687C=
c.6103C= (p.Pro2035=)
c.6211C= (p.Pro2071=)
c.6214C= (p.Pro2072=)
c.6187C= (p.Pro2063=)
c.6124C= (p.Pro2042=)
c.5995C= (p.Pro1999=)
c.5983C= (p.Pro1995=)
c.5956C= (p.Pro1986=)
n.6540C=
n.6514C=
c.6310C= (p.Pro2104=)
c.6304C= (p.Pro2102=)
c.6301C= (p.Pro2101=)
c.6196C= (p.Pro2066=)
c.6193C= (p.Pro2065=)
n.6299C=
n.6285C=
11g.77211320C>GCA381936283MYO7Ac.6220C>G (p.Pro2074Ala)
c.4021C>G
c.6073C>G (p.Pro2025Ala)
c.3646C>G (p.Pro1216Ala)
c.6106C>G (p.Pro2036Ala)
n.3756C>G
n.25+409C>G
n.1687C>G
c.6103C>G (p.Pro2035Ala)
c.6211C>G (p.Pro2071Ala)
c.6214C>G (p.Pro2072Ala)
c.6187C>G (p.Pro2063Ala)
c.6124C>G (p.Pro2042Ala)
c.5995C>G (p.Pro1999Ala)
c.5983C>G (p.Pro1995Ala)
c.5956C>G (p.Pro1986Ala)
n.6540C>G
n.6514C>G
c.6310C>G (p.Pro2104Ala)
c.6304C>G (p.Pro2102Ala)
c.6301C>G (p.Pro2101Ala)
c.6196C>G (p.Pro2066Ala)
c.6193C>G (p.Pro2065Ala)
n.6299C>G
n.6285C>G
11g.77211320C>TCA6198952MYO7Ac.6220C>T (p.Pro2074Ser)
c.4021C>T
c.6073C>T (p.Pro2025Ser)
c.3646C>T (p.Pro1216Ser)
c.6106C>T (p.Pro2036Ser)
n.3756C>T
n.25+409C>T
n.1687C>T
c.6103C>T (p.Pro2035Ser)
c.6211C>T (p.Pro2071Ser)
c.6214C>T (p.Pro2072Ser)
c.6187C>T (p.Pro2063Ser)
c.6124C>T (p.Pro2042Ser)
c.5995C>T (p.Pro1999Ser)
c.5983C>T (p.Pro1995Ser)
c.5956C>T (p.Pro1986Ser)
n.6540C>T
n.6514C>T
c.6310C>T (p.Pro2104Ser)
c.6304C>T (p.Pro2102Ser)
c.6301C>T (p.Pro2101Ser)
c.6196C>T (p.Pro2066Ser)
c.6193C>T (p.Pro2065Ser)
n.6299C>T
n.6285C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211321C>ACA381936289MYO7Ac.6221C>A (p.Pro2074His)
c.4022C>A
c.6074C>A (p.Pro2025His)
c.3647C>A (p.Pro1216His)
c.6107C>A (p.Pro2036His)
n.3757C>A
n.25+410C>A
n.1688C>A
c.6104C>A (p.Pro2035His)
c.6212C>A (p.Pro2071His)
c.6215C>A (p.Pro2072His)
c.6188C>A (p.Pro2063His)
c.6125C>A (p.Pro2042His)
c.5996C>A (p.Pro1999His)
c.5984C>A (p.Pro1995His)
c.5957C>A (p.Pro1986His)
n.6541C>A
n.6515C>A
c.6311C>A (p.Pro2104His)
c.6305C>A (p.Pro2102His)
c.6302C>A (p.Pro2101His)
c.6197C>A (p.Pro2066His)
c.6194C>A (p.Pro2065His)
n.6300C>A
n.6286C>A
 ClinVar gnomAD v4 COSMIC
11g.77211321C=CA1984129913MYO7Ac.6221C= (p.Pro2074=)
c.4022C=
c.6074C= (p.Pro2025=)
c.3647C= (p.Pro1216=)
c.6107C= (p.Pro2036=)
n.3757C=
n.25+410C=
n.1688C=
c.6104C= (p.Pro2035=)
c.6212C= (p.Pro2071=)
c.6215C= (p.Pro2072=)
c.6188C= (p.Pro2063=)
c.6125C= (p.Pro2042=)
c.5996C= (p.Pro1999=)
c.5984C= (p.Pro1995=)
c.5957C= (p.Pro1986=)
n.6541C=
n.6515C=
c.6311C= (p.Pro2104=)
c.6305C= (p.Pro2102=)
c.6302C= (p.Pro2101=)
c.6197C= (p.Pro2066=)
c.6194C= (p.Pro2065=)
n.6300C=
n.6286C=
11g.77211321C>GCA6198953MYO7Ac.6221C>G (p.Pro2074Arg)
c.4022C>G
c.6074C>G (p.Pro2025Arg)
c.3647C>G (p.Pro1216Arg)
c.6107C>G (p.Pro2036Arg)
n.3757C>G
n.25+410C>G
n.1688C>G
c.6104C>G (p.Pro2035Arg)
c.6212C>G (p.Pro2071Arg)
c.6215C>G (p.Pro2072Arg)
c.6188C>G (p.Pro2063Arg)
c.6125C>G (p.Pro2042Arg)
c.5996C>G (p.Pro1999Arg)
c.5984C>G (p.Pro1995Arg)
c.5957C>G (p.Pro1986Arg)
n.6541C>G
n.6515C>G
c.6311C>G (p.Pro2104Arg)
c.6305C>G (p.Pro2102Arg)
c.6302C>G (p.Pro2101Arg)
c.6197C>G (p.Pro2066Arg)
c.6194C>G (p.Pro2065Arg)
n.6300C>G
n.6286C>G
 dbSNP ExAC gnomAD v2
11g.77211321C>TCA381936287MYO7Ac.6221C>T (p.Pro2074Leu)
c.4022C>T
c.6074C>T (p.Pro2025Leu)
c.3647C>T (p.Pro1216Leu)
c.6107C>T (p.Pro2036Leu)
n.3757C>T
n.25+410C>T
n.1688C>T
c.6104C>T (p.Pro2035Leu)
c.6212C>T (p.Pro2071Leu)
c.6215C>T (p.Pro2072Leu)
c.6188C>T (p.Pro2063Leu)
c.6125C>T (p.Pro2042Leu)
c.5996C>T (p.Pro1999Leu)
c.5984C>T (p.Pro1995Leu)
c.5957C>T (p.Pro1986Leu)
n.6541C>T
n.6515C>T
c.6311C>T (p.Pro2104Leu)
c.6305C>T (p.Pro2102Leu)
c.6302C>T (p.Pro2101Leu)
c.6197C>T (p.Pro2066Leu)
c.6194C>T (p.Pro2065Leu)
n.6300C>T
n.6286C>T
 dbSNP gnomAD v4
11g.77211322T>ACA475792066MYO7Ac.6222T>A (p.Pro2074=)
c.4023T>A
c.6075T>A (p.Pro2025=)
c.3648T>A (p.Pro1216=)
c.6108T>A (p.Pro2036=)
n.3758T>A
n.25+411T>A
n.1689T>A
c.6105T>A (p.Pro2035=)
c.6213T>A (p.Pro2071=)
c.6216T>A (p.Pro2072=)
c.6189T>A (p.Pro2063=)
c.6126T>A (p.Pro2042=)
c.5997T>A (p.Pro1999=)
c.5985T>A (p.Pro1995=)
c.5958T>A (p.Pro1986=)
n.6542T>A
n.6516T>A
c.6312T>A (p.Pro2104=)
c.6306T>A (p.Pro2102=)
c.6303T>A (p.Pro2101=)
c.6198T>A (p.Pro2066=)
c.6195T>A (p.Pro2065=)
n.6301T>A
n.6287T>A
11g.77211322T>CCA475792068MYO7Ac.6222T>C (p.Pro2074=)
c.4023T>C
c.6075T>C (p.Pro2025=)
c.3648T>C (p.Pro1216=)
c.6108T>C (p.Pro2036=)
n.3758T>C
n.25+411T>C
n.1689T>C
c.6105T>C (p.Pro2035=)
c.6213T>C (p.Pro2071=)
c.6216T>C (p.Pro2072=)
c.6189T>C (p.Pro2063=)
c.6126T>C (p.Pro2042=)
c.5997T>C (p.Pro1999=)
c.5985T>C (p.Pro1995=)
c.5958T>C (p.Pro1986=)
n.6542T>C
n.6516T>C
c.6312T>C (p.Pro2104=)
c.6306T>C (p.Pro2102=)
c.6303T>C (p.Pro2101=)
c.6198T>C (p.Pro2066=)
c.6195T>C (p.Pro2065=)
n.6301T>C
n.6287T>C
 gnomAD v4
11g.77211322T>GCA475792067MYO7Ac.6222T>G (p.Pro2074=)
c.4023T>G
c.6075T>G (p.Pro2025=)
c.3648T>G (p.Pro1216=)
c.6108T>G (p.Pro2036=)
n.3758T>G
n.25+411T>G
n.1689T>G
c.6105T>G (p.Pro2035=)
c.6213T>G (p.Pro2071=)
c.6216T>G (p.Pro2072=)
c.6189T>G (p.Pro2063=)
c.6126T>G (p.Pro2042=)
c.5997T>G (p.Pro1999=)
c.5985T>G (p.Pro1995=)
c.5958T>G (p.Pro1986=)
n.6542T>G
n.6516T>G
c.6312T>G (p.Pro2104=)
c.6306T>G (p.Pro2102=)
c.6303T>G (p.Pro2101=)
c.6198T>G (p.Pro2066=)
c.6195T>G (p.Pro2065=)
n.6301T>G
n.6287T>G
 gnomAD v4
11g.77211323G>ACA381936293MYO7Ac.6223G>A (p.Asp2075Asn)
c.4024G>A
c.6076G>A (p.Asp2026Asn)
c.3649G>A (p.Asp1217Asn)
c.6109G>A (p.Asp2037Asn)
n.3759G>A
n.25+412G>A
n.1690G>A
c.6106G>A (p.Asp2036Asn)
c.6214G>A (p.Asp2072Asn)
c.6217G>A (p.Asp2073Asn)
c.6190G>A (p.Asp2064Asn)
c.6127G>A (p.Asp2043Asn)
c.5998G>A (p.Asp2000Asn)
c.5986G>A (p.Asp1996Asn)
c.5959G>A (p.Asp1987Asn)
n.6543G>A
n.6517G>A
c.6313G>A (p.Asp2105Asn)
c.6307G>A (p.Asp2103Asn)
c.6304G>A (p.Asp2102Asn)
c.6199G>A (p.Asp2067Asn)
c.6196G>A (p.Asp2066Asn)
n.6302G>A
n.6288G>A
 ClinVar dbSNP gnomAD v4
11g.77211323G>CCA381936295MYO7Ac.6223G>C (p.Asp2075His)
c.4024G>C
c.6076G>C (p.Asp2026His)
c.3649G>C (p.Asp1217His)
c.6109G>C (p.Asp2037His)
n.3759G>C
n.25+412G>C
n.1690G>C
c.6106G>C (p.Asp2036His)
c.6214G>C (p.Asp2072His)
c.6217G>C (p.Asp2073His)
c.6190G>C (p.Asp2064His)
c.6127G>C (p.Asp2043His)
c.5998G>C (p.Asp2000His)
c.5986G>C (p.Asp1996His)
c.5959G>C (p.Asp1987His)
n.6543G>C
n.6517G>C
c.6313G>C (p.Asp2105His)
c.6307G>C (p.Asp2103His)
c.6304G>C (p.Asp2102His)
c.6199G>C (p.Asp2067His)
c.6196G>C (p.Asp2066His)
n.6302G>C
n.6288G>C
 gnomAD v4
11g.77211323G>TCA381936297MYO7Ac.6223G>T (p.Asp2075Tyr)
c.4024G>T
c.6076G>T (p.Asp2026Tyr)
c.3649G>T (p.Asp1217Tyr)
c.6109G>T (p.Asp2037Tyr)
n.3759G>T
n.25+412G>T
n.1690G>T
c.6106G>T (p.Asp2036Tyr)
c.6214G>T (p.Asp2072Tyr)
c.6217G>T (p.Asp2073Tyr)
c.6190G>T (p.Asp2064Tyr)
c.6127G>T (p.Asp2043Tyr)
c.5998G>T (p.Asp2000Tyr)
c.5986G>T (p.Asp1996Tyr)
c.5959G>T (p.Asp1987Tyr)
n.6543G>T
n.6517G>T
c.6313G>T (p.Asp2105Tyr)
c.6307G>T (p.Asp2103Tyr)
c.6304G>T (p.Asp2102Tyr)
c.6199G>T (p.Asp2067Tyr)
c.6196G>T (p.Asp2066Tyr)
n.6302G>T
n.6288G>T
 gnomAD v4
11g.77211324A>CCA381936299MYO7Ac.6224A>C (p.Asp2075Ala)
c.4025A>C
c.6077A>C (p.Asp2026Ala)
c.3650A>C (p.Asp1217Ala)
c.6110A>C (p.Asp2037Ala)
n.3760A>C
n.25+413A>C
n.1691A>C
c.6107A>C (p.Asp2036Ala)
c.6215A>C (p.Asp2072Ala)
c.6218A>C (p.Asp2073Ala)
c.6191A>C (p.Asp2064Ala)
c.6128A>C (p.Asp2043Ala)
c.5999A>C (p.Asp2000Ala)
c.5987A>C (p.Asp1996Ala)
c.5960A>C (p.Asp1987Ala)
n.6544A>C
n.6518A>C
c.6314A>C (p.Asp2105Ala)
c.6308A>C (p.Asp2103Ala)
c.6305A>C (p.Asp2102Ala)
c.6200A>C (p.Asp2067Ala)
c.6197A>C (p.Asp2066Ala)
n.6303A>C
n.6289A>C
11g.77211324A>GCA381936301MYO7Ac.6224A>G (p.Asp2075Gly)
c.4025A>G
c.6077A>G (p.Asp2026Gly)
c.3650A>G (p.Asp1217Gly)
c.6110A>G (p.Asp2037Gly)
n.3760A>G
n.25+413A>G
n.1691A>G
c.6107A>G (p.Asp2036Gly)
c.6215A>G (p.Asp2072Gly)
c.6218A>G (p.Asp2073Gly)
c.6191A>G (p.Asp2064Gly)
c.6128A>G (p.Asp2043Gly)
c.5999A>G (p.Asp2000Gly)
c.5987A>G (p.Asp1996Gly)
c.5960A>G (p.Asp1987Gly)
n.6544A>G
n.6518A>G
c.6314A>G (p.Asp2105Gly)
c.6308A>G (p.Asp2103Gly)
c.6305A>G (p.Asp2102Gly)
c.6200A>G (p.Asp2067Gly)
c.6197A>G (p.Asp2066Gly)
n.6303A>G
n.6289A>G
11g.77211324A>TCA381936303MYO7Ac.6224A>T (p.Asp2075Val)
c.4025A>T
c.6077A>T (p.Asp2026Val)
c.3650A>T (p.Asp1217Val)
c.6110A>T (p.Asp2037Val)
n.3760A>T
n.25+413A>T
n.1691A>T
c.6107A>T (p.Asp2036Val)
c.6215A>T (p.Asp2072Val)
c.6218A>T (p.Asp2073Val)
c.6191A>T (p.Asp2064Val)
c.6128A>T (p.Asp2043Val)
c.5999A>T (p.Asp2000Val)
c.5987A>T (p.Asp1996Val)
c.5960A>T (p.Asp1987Val)
n.6544A>T
n.6518A>T
c.6314A>T (p.Asp2105Val)
c.6308A>T (p.Asp2103Val)
c.6305A>T (p.Asp2102Val)
c.6200A>T (p.Asp2067Val)
c.6197A>T (p.Asp2066Val)
n.6303A>T
n.6289A>T
11g.77211325T>ACA381936306MYO7Ac.6225T>A (p.Asp2075Glu)
c.4026T>A
c.6078T>A (p.Asp2026Glu)
c.3651T>A (p.Asp1217Glu)
c.6111T>A (p.Asp2037Glu)
n.3761T>A
n.25+414T>A
n.1692T>A
c.6108T>A (p.Asp2036Glu)
c.6216T>A (p.Asp2072Glu)
c.6219T>A (p.Asp2073Glu)
c.6192T>A (p.Asp2064Glu)
c.6129T>A (p.Asp2043Glu)
c.6000T>A (p.Asp2000Glu)
c.5988T>A (p.Asp1996Glu)
c.5961T>A (p.Asp1987Glu)
n.6545T>A
n.6519T>A
c.6315T>A (p.Asp2105Glu)
c.6309T>A (p.Asp2103Glu)
c.6306T>A (p.Asp2102Glu)
c.6201T>A (p.Asp2067Glu)
c.6198T>A (p.Asp2066Glu)
n.6304T>A
n.6290T>A
11g.77211325T>CCA475792070MYO7Ac.6225T>C (p.Asp2075=)
c.4026T>C
c.6078T>C (p.Asp2026=)
c.3651T>C (p.Asp1217=)
c.6111T>C (p.Asp2037=)
n.3761T>C
n.25+414T>C
n.1692T>C
c.6108T>C (p.Asp2036=)
c.6216T>C (p.Asp2072=)
c.6219T>C (p.Asp2073=)
c.6192T>C (p.Asp2064=)
c.6129T>C (p.Asp2043=)
c.6000T>C (p.Asp2000=)
c.5988T>C (p.Asp1996=)
c.5961T>C (p.Asp1987=)
n.6545T>C
n.6519T>C
c.6315T>C (p.Asp2105=)
c.6309T>C (p.Asp2103=)
c.6306T>C (p.Asp2102=)
c.6201T>C (p.Asp2067=)
c.6198T>C (p.Asp2066=)
n.6304T>C
n.6290T>C
11g.77211325T>GCA381936308MYO7Ac.6225T>G (p.Asp2075Glu)
c.4026T>G
c.6078T>G (p.Asp2026Glu)
c.3651T>G (p.Asp1217Glu)
c.6111T>G (p.Asp2037Glu)
n.3761T>G
n.25+414T>G
n.1692T>G
c.6108T>G (p.Asp2036Glu)
c.6216T>G (p.Asp2072Glu)
c.6219T>G (p.Asp2073Glu)
c.6192T>G (p.Asp2064Glu)
c.6129T>G (p.Asp2043Glu)
c.6000T>G (p.Asp2000Glu)
c.5988T>G (p.Asp1996Glu)
c.5961T>G (p.Asp1987Glu)
n.6545T>G
n.6519T>G
c.6315T>G (p.Asp2105Glu)
c.6309T>G (p.Asp2103Glu)
c.6306T>G (p.Asp2102Glu)
c.6201T>G (p.Asp2067Glu)
c.6198T>G (p.Asp2066Glu)
n.6304T>G
n.6290T>G
11g.77211326G>ACA381936311MYO7Ac.6226G>A (p.Asp2076Asn)
c.4027G>A
c.6079G>A (p.Asp2027Asn)
c.3652G>A (p.Asp1218Asn)
c.6112G>A (p.Asp2038Asn)
n.3762G>A
n.25+415G>A
n.1693G>A
c.6109G>A (p.Asp2037Asn)
c.6217G>A (p.Asp2073Asn)
c.6220G>A (p.Asp2074Asn)
c.6193G>A (p.Asp2065Asn)
c.6130G>A (p.Asp2044Asn)
c.6001G>A (p.Asp2001Asn)
c.5989G>A (p.Asp1997Asn)
c.5962G>A (p.Asp1988Asn)
n.6546G>A
n.6520G>A
c.6316G>A (p.Asp2106Asn)
c.6310G>A (p.Asp2104Asn)
c.6307G>A (p.Asp2103Asn)
c.6202G>A (p.Asp2068Asn)
c.6199G>A (p.Asp2067Asn)
n.6305G>A
n.6291G>A
11g.77211326G>CCA381936313MYO7Ac.6226G>C (p.Asp2076His)
c.4027G>C
c.6079G>C (p.Asp2027His)
c.3652G>C (p.Asp1218His)
c.6112G>C (p.Asp2038His)
n.3762G>C
n.25+415G>C
n.1693G>C
c.6109G>C (p.Asp2037His)
c.6217G>C (p.Asp2073His)
c.6220G>C (p.Asp2074His)
c.6193G>C (p.Asp2065His)
c.6130G>C (p.Asp2044His)
c.6001G>C (p.Asp2001His)
c.5989G>C (p.Asp1997His)
c.5962G>C (p.Asp1988His)
n.6546G>C
n.6520G>C
c.6316G>C (p.Asp2106His)
c.6310G>C (p.Asp2104His)
c.6307G>C (p.Asp2103His)
c.6202G>C (p.Asp2068His)
c.6199G>C (p.Asp2067His)
n.6305G>C
n.6291G>C
 gnomAD v4
11g.77211326G>TCA381936316MYO7Ac.6226G>T (p.Asp2076Tyr)
c.4027G>T
c.6079G>T (p.Asp2027Tyr)
c.3652G>T (p.Asp1218Tyr)
c.6112G>T (p.Asp2038Tyr)
n.3762G>T
n.25+415G>T
n.1693G>T
c.6109G>T (p.Asp2037Tyr)
c.6217G>T (p.Asp2073Tyr)
c.6220G>T (p.Asp2074Tyr)
c.6193G>T (p.Asp2065Tyr)
c.6130G>T (p.Asp2044Tyr)
c.6001G>T (p.Asp2001Tyr)
c.5989G>T (p.Asp1997Tyr)
c.5962G>T (p.Asp1988Tyr)
n.6546G>T
n.6520G>T
c.6316G>T (p.Asp2106Tyr)
c.6310G>T (p.Asp2104Tyr)
c.6307G>T (p.Asp2103Tyr)
c.6202G>T (p.Asp2068Tyr)
c.6199G>T (p.Asp2067Tyr)
n.6305G>T
n.6291G>T
 gnomAD v4
11g.77211328_77211332delCA2573147840MYO7Ac.6228_6232del (p.Asp2076GlufsTer?)
c.4029_4033del
c.6081_6085del (p.Asp2027GlufsTer?)
c.3654_3658del (p.Asp1218GlufsTer?)
c.6114_6118del (p.Asp2038GlufsTer?)
n.3764_3768del
n.25+417_25+421del
n.1695_1699del
c.6111_6115del (p.Asp2037GlufsTer?)
c.6219_6223del (p.Asp2073GlufsTer?)
c.6222_6226del (p.Asp2074GlufsTer?)
c.6195_6199del (p.Asp2065GlufsTer?)
c.6132_6136del (p.Asp2044GlufsTer?)
c.6003_6007del (p.Asp2001GlufsTer?)
c.5991_5995del (p.Asp1997GlufsTer?)
c.5964_5968del (p.Asp1988GlufsTer?)
n.6548_6552del
n.6522_6526del
c.6318_6322del (p.Asp2106GlufsTer?)
c.6312_6316del (p.Asp2104GlufsTer?)
c.6309_6313del (p.Asp2103GlufsTer?)
c.6204_6208del (p.Asp2068GlufsTer?)
c.6201_6205del (p.Asp2067GlufsTer?)
n.6307_6311del
n.6293_6297del
 ClinVar dbSNP gnomAD v4
11g.77211327A>CCA381936319MYO7Ac.6227A>C (p.Asp2076Ala)
c.4028A>C
c.6080A>C (p.Asp2027Ala)
c.3653A>C (p.Asp1218Ala)
c.6113A>C (p.Asp2038Ala)
n.3763A>C
n.25+416A>C
n.1694A>C
c.6110A>C (p.Asp2037Ala)
c.6218A>C (p.Asp2073Ala)
c.6221A>C (p.Asp2074Ala)
c.6194A>C (p.Asp2065Ala)
c.6131A>C (p.Asp2044Ala)
c.6002A>C (p.Asp2001Ala)
c.5990A>C (p.Asp1997Ala)
c.5963A>C (p.Asp1988Ala)
n.6547A>C
n.6521A>C
c.6317A>C (p.Asp2106Ala)
c.6311A>C (p.Asp2104Ala)
c.6308A>C (p.Asp2103Ala)
c.6203A>C (p.Asp2068Ala)
c.6200A>C (p.Asp2067Ala)
n.6306A>C
n.6292A>C
11g.77211327A>GCA381936322MYO7Ac.6227A>G (p.Asp2076Gly)
c.4028A>G
c.6080A>G (p.Asp2027Gly)
c.3653A>G (p.Asp1218Gly)
c.6113A>G (p.Asp2038Gly)
n.3763A>G
n.25+416A>G
n.1694A>G
c.6110A>G (p.Asp2037Gly)
c.6218A>G (p.Asp2073Gly)
c.6221A>G (p.Asp2074Gly)
c.6194A>G (p.Asp2065Gly)
c.6131A>G (p.Asp2044Gly)
c.6002A>G (p.Asp2001Gly)
c.5990A>G (p.Asp1997Gly)
c.5963A>G (p.Asp1988Gly)
n.6547A>G
n.6521A>G
c.6317A>G (p.Asp2106Gly)
c.6311A>G (p.Asp2104Gly)
c.6308A>G (p.Asp2103Gly)
c.6203A>G (p.Asp2068Gly)
c.6200A>G (p.Asp2067Gly)
n.6306A>G
n.6292A>G
 gnomAD v4
11g.77211327A>TCA381936325MYO7Ac.6227A>T (p.Asp2076Val)
c.4028A>T
c.6080A>T (p.Asp2027Val)
c.3653A>T (p.Asp1218Val)
c.6113A>T (p.Asp2038Val)
n.3763A>T
n.25+416A>T
n.1694A>T
c.6110A>T (p.Asp2037Val)
c.6218A>T (p.Asp2073Val)
c.6221A>T (p.Asp2074Val)
c.6194A>T (p.Asp2065Val)
c.6131A>T (p.Asp2044Val)
c.6002A>T (p.Asp2001Val)
c.5990A>T (p.Asp1997Val)
c.5963A>T (p.Asp1988Val)
n.6547A>T
n.6521A>T
c.6317A>T (p.Asp2106Val)
c.6311A>T (p.Asp2104Val)
c.6308A>T (p.Asp2103Val)
c.6203A>T (p.Asp2068Val)
c.6200A>T (p.Asp2067Val)
n.6306A>T
n.6292A>T
11g.77211328C>ACA381936330MYO7Ac.6228C>A (p.Asp2076Glu)
c.4029C>A
c.6081C>A (p.Asp2027Glu)
c.3654C>A (p.Asp1218Glu)
c.6114C>A (p.Asp2038Glu)
n.3764C>A
n.25+417C>A
n.1695C>A
c.6111C>A (p.Asp2037Glu)
c.6219C>A (p.Asp2073Glu)
c.6222C>A (p.Asp2074Glu)
c.6195C>A (p.Asp2065Glu)
c.6132C>A (p.Asp2044Glu)
c.6003C>A (p.Asp2001Glu)
c.5991C>A (p.Asp1997Glu)
c.5964C>A (p.Asp1988Glu)
n.6548C>A
n.6522C>A
c.6318C>A (p.Asp2106Glu)
c.6312C>A (p.Asp2104Glu)
c.6309C>A (p.Asp2103Glu)
c.6204C>A (p.Asp2068Glu)
c.6201C>A (p.Asp2067Glu)
n.6307C>A
n.6293C>A
 gnomAD v4
11g.77211328C>GCA381936328MYO7Ac.6228C>G (p.Asp2076Glu)
c.4029C>G
c.6081C>G (p.Asp2027Glu)
c.3654C>G (p.Asp1218Glu)
c.6114C>G (p.Asp2038Glu)
n.3764C>G
n.25+417C>G
n.1695C>G
c.6111C>G (p.Asp2037Glu)
c.6219C>G (p.Asp2073Glu)
c.6222C>G (p.Asp2074Glu)
c.6195C>G (p.Asp2065Glu)
c.6132C>G (p.Asp2044Glu)
c.6003C>G (p.Asp2001Glu)
c.5991C>G (p.Asp1997Glu)
c.5964C>G (p.Asp1988Glu)
n.6548C>G
n.6522C>G
c.6318C>G (p.Asp2106Glu)
c.6312C>G (p.Asp2104Glu)
c.6309C>G (p.Asp2103Glu)
c.6204C>G (p.Asp2068Glu)
c.6201C>G (p.Asp2067Glu)
n.6307C>G
n.6293C>G
11g.77211328C>TCA475792075MYO7Ac.6228C>T (p.Asp2076=)
c.4029C>T
c.6081C>T (p.Asp2027=)
c.3654C>T (p.Asp1218=)
c.6114C>T (p.Asp2038=)
n.3764C>T
n.25+417C>T
n.1695C>T
c.6111C>T (p.Asp2037=)
c.6219C>T (p.Asp2073=)
c.6222C>T (p.Asp2074=)
c.6195C>T (p.Asp2065=)
c.6132C>T (p.Asp2044=)
c.6003C>T (p.Asp2001=)
c.5991C>T (p.Asp1997=)
c.5964C>T (p.Asp1988=)
n.6548C>T
n.6522C>T
c.6318C>T (p.Asp2106=)
c.6312C>T (p.Asp2104=)
c.6309C>T (p.Asp2103=)
c.6204C>T (p.Asp2068=)
c.6201C>T (p.Asp2067=)
n.6307C>T
n.6293C>T
 gnomAD v4
11g.77211329T>ACA381936332MYO7Ac.6229T>A (p.Trp2077Arg)
c.4030T>A
c.6082T>A (p.Trp2028Arg)
c.3655T>A (p.Trp1219Arg)
c.6115T>A (p.Trp2039Arg)
n.3765T>A
n.25+418T>A
n.1696T>A
c.6112T>A (p.Trp2038Arg)
c.6220T>A (p.Trp2074Arg)
c.6223T>A (p.Trp2075Arg)
c.6196T>A (p.Trp2066Arg)
c.6133T>A (p.Trp2045Arg)
c.6004T>A (p.Trp2002Arg)
c.5992T>A (p.Trp1998Arg)
c.5965T>A (p.Trp1989Arg)
n.6549T>A
n.6523T>A
c.6319T>A (p.Trp2107Arg)
c.6313T>A (p.Trp2105Arg)
c.6310T>A (p.Trp2104Arg)
c.6205T>A (p.Trp2069Arg)
c.6202T>A (p.Trp2068Arg)
n.6308T>A
n.6294T>A
11g.77211329T>CCA381936334MYO7Ac.6229T>C (p.Trp2077Arg)
c.4030T>C
c.6082T>C (p.Trp2028Arg)
c.3655T>C (p.Trp1219Arg)
c.6115T>C (p.Trp2039Arg)
n.3765T>C
n.25+418T>C
n.1696T>C
c.6112T>C (p.Trp2038Arg)
c.6220T>C (p.Trp2074Arg)
c.6223T>C (p.Trp2075Arg)
c.6196T>C (p.Trp2066Arg)
c.6133T>C (p.Trp2045Arg)
c.6004T>C (p.Trp2002Arg)
c.5992T>C (p.Trp1998Arg)
c.5965T>C (p.Trp1989Arg)
n.6549T>C
n.6523T>C
c.6319T>C (p.Trp2107Arg)
c.6313T>C (p.Trp2105Arg)
c.6310T>C (p.Trp2104Arg)
c.6205T>C (p.Trp2069Arg)
c.6202T>C (p.Trp2068Arg)
n.6308T>C
n.6294T>C
 gnomAD v4
11g.77211329T>GCA381936336MYO7Ac.6229T>G (p.Trp2077Gly)
c.4030T>G
c.6082T>G (p.Trp2028Gly)
c.3655T>G (p.Trp1219Gly)
c.6115T>G (p.Trp2039Gly)
n.3765T>G
n.25+418T>G
n.1696T>G
c.6112T>G (p.Trp2038Gly)
c.6220T>G (p.Trp2074Gly)
c.6223T>G (p.Trp2075Gly)
c.6196T>G (p.Trp2066Gly)
c.6133T>G (p.Trp2045Gly)
c.6004T>G (p.Trp2002Gly)
c.5992T>G (p.Trp1998Gly)
c.5965T>G (p.Trp1989Gly)
n.6549T>G
n.6523T>G
c.6319T>G (p.Trp2107Gly)
c.6313T>G (p.Trp2105Gly)
c.6310T>G (p.Trp2104Gly)
c.6205T>G (p.Trp2069Gly)
c.6202T>G (p.Trp2068Gly)
n.6308T>G
n.6294T>G
11g.77211329dupCA2573053568MYO7Ac.6229dup (p.Trp2077LeufsTer?)
c.4030dup
c.6082dup (p.Trp2028LeufsTer?)
c.3655dup (p.Trp1219LeufsTer?)
c.6115dup (p.Trp2039LeufsTer?)
n.3765dup
n.25+418dup
n.1696dup
c.6112dup (p.Trp2038LeufsTer?)
c.6220dup (p.Trp2074LeufsTer?)
c.6223dup (p.Trp2075LeufsTer?)
c.6196dup (p.Trp2066LeufsTer?)
c.6133dup (p.Trp2045LeufsTer?)
c.6004dup (p.Trp2002LeufsTer?)
c.5992dup (p.Trp1998LeufsTer?)
c.5965dup (p.Trp1989LeufsTer?)
n.6549dup
n.6523dup
c.6319dup (p.Trp2107LeufsTer?)
c.6313dup (p.Trp2105LeufsTer?)
c.6310dup (p.Trp2104LeufsTer?)
c.6205dup (p.Trp2069LeufsTer?)
c.6202dup (p.Trp2068LeufsTer?)
n.6308dup
n.6294dup
 ClinVar dbSNP
11g.77211329_77211330delinsTGCA1984129914MYO7Ac.6229_6230delinsTG (p.Trp2077=)
c.4030_4031delinsTG
c.6082_6083delinsTG (p.Trp2028=)
c.3655_3656delinsTG (p.Trp1219=)
c.6115_6116delinsTG (p.Trp2039=)
n.3765_3766delinsTG
n.25+418_25+419delinsTG
n.1696_1697delinsTG
c.6112_6113delinsTG (p.Trp2038=)
c.6220_6221delinsTG (p.Trp2074=)
c.6223_6224delinsTG (p.Trp2075=)
c.6196_6197delinsTG (p.Trp2066=)
c.6133_6134delinsTG (p.Trp2045=)
c.6004_6005delinsTG (p.Trp2002=)
c.5992_5993delinsTG (p.Trp1998=)
c.5965_5966delinsTG (p.Trp1989=)
n.6549_6550delinsTG
n.6523_6524delinsTG
c.6319_6320delinsTG (p.Trp2107=)
c.6313_6314delinsTG (p.Trp2105=)
c.6310_6311delinsTG (p.Trp2104=)
c.6205_6206delinsTG (p.Trp2069=)
c.6202_6203delinsTG (p.Trp2068=)
n.6308_6309delinsTG
n.6294_6295delinsTG

Number of alleles fetched