Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.77211215delCA2615262574MYO7Ac.6115del (p.Ala2039ArgfsTer2)
c.3916del
c.5968del (p.Ala1990ArgfsTer2)
c.3541del (p.Ala1181ArgfsTer2)
c.6001del (p.Ala2001ArgfsTer2)
n.3651del
n.25+304del
n.1582del
c.5998del (p.Ala2000ArgfsTer2)
c.6106del (p.Ala2036ArgfsTer2)
c.6109del (p.Ala2037ArgfsTer2)
c.6082del (p.Ala2028ArgfsTer2)
c.6019del (p.Ala2007ArgfsTer2)
c.5890del (p.Ala1964ArgfsTer2)
c.5878del (p.Ala1960ArgfsTer2)
c.5851del (p.Ala1951ArgfsTer2)
n.6435del
n.6409del
c.6205del (p.Ala2069ArgfsTer2)
c.6199del (p.Ala2067ArgfsTer2)
c.6196del (p.Ala2066ArgfsTer2)
c.6091del (p.Ala2031ArgfsTer2)
c.6088del (p.Ala2030ArgfsTer2)
n.6194del
n.6135del
n.6180del
gnomAD v4
11g.77211214_77211215delCA2574931907MYO7Ac.6114_6115del (p.Leu2040AspfsTer?)
c.3915_3916del
c.5967_5968del (p.Leu1991AspfsTer?)
c.3540_3541del (p.Leu1182AspfsTer?)
c.6000_6001del (p.Leu2002AspfsTer?)
n.3650_3651del
n.25+303_25+304del
n.1581_1582del
c.5997_5998del (p.Leu2001AspfsTer?)
c.6105_6106del (p.Leu2037AspfsTer?)
c.6108_6109del (p.Leu2038AspfsTer?)
c.6081_6082del (p.Leu2029AspfsTer?)
c.6018_6019del (p.Leu2008AspfsTer?)
c.5889_5890del (p.Leu1965AspfsTer?)
c.5877_5878del (p.Leu1961AspfsTer?)
c.5850_5851del (p.Leu1952AspfsTer?)
n.6434_6435del
n.6408_6409del
c.6204_6205del (p.Leu2070AspfsTer?)
c.6198_6199del (p.Leu2068AspfsTer?)
c.6195_6196del (p.Leu2067AspfsTer?)
c.6090_6091del (p.Leu2032AspfsTer?)
c.6087_6088del (p.Leu2031AspfsTer?)
n.6193_6194del
n.6134_6135del
n.6179_6180del
11g.77211214G>ACA224827699MYO7Ac.6114G>A (p.Gly2038=)
c.3915G>A
c.5967G>A (p.Gly1989=)
c.3540G>A (p.Gly1180=)
c.6000G>A (p.Gly2000=)
n.3650G>A
n.25+303G>A
n.1581G>A
c.5997G>A (p.Gly1999=)
c.6105G>A (p.Gly2035=)
c.6108G>A (p.Gly2036=)
c.6081G>A (p.Gly2027=)
c.6018G>A (p.Gly2006=)
c.5889G>A (p.Gly1963=)
c.5877G>A (p.Gly1959=)
c.5850G>A (p.Gly1950=)
n.6434G>A
n.6408G>A
c.6204G>A (p.Gly2068=)
c.6198G>A (p.Gly2066=)
c.6195G>A (p.Gly2065=)
c.6090G>A (p.Gly2030=)
c.6087G>A (p.Gly2029=)
n.6193G>A
n.6134G>A
n.6179G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.77211214G>CCA475791938MYO7Ac.6114G>C (p.Gly2038=)
c.3915G>C
c.5967G>C (p.Gly1989=)
c.3540G>C (p.Gly1180=)
c.6000G>C (p.Gly2000=)
n.3650G>C
n.25+303G>C
n.1581G>C
c.5997G>C (p.Gly1999=)
c.6105G>C (p.Gly2035=)
c.6108G>C (p.Gly2036=)
c.6081G>C (p.Gly2027=)
c.6018G>C (p.Gly2006=)
c.5889G>C (p.Gly1963=)
c.5877G>C (p.Gly1959=)
c.5850G>C (p.Gly1950=)
n.6434G>C
n.6408G>C
c.6204G>C (p.Gly2068=)
c.6198G>C (p.Gly2066=)
c.6195G>C (p.Gly2065=)
c.6090G>C (p.Gly2030=)
c.6087G>C (p.Gly2029=)
n.6193G>C
n.6134G>C
n.6179G>C
11g.77211214G=CA1984129859MYO7Ac.6114G= (p.Gly2038=)
c.3915G=
c.5967G= (p.Gly1989=)
c.3540G= (p.Gly1180=)
c.6000G= (p.Gly2000=)
n.3650G=
n.25+303G=
n.1581G=
c.5997G= (p.Gly1999=)
c.6105G= (p.Gly2035=)
c.6108G= (p.Gly2036=)
c.6081G= (p.Gly2027=)
c.6018G= (p.Gly2006=)
c.5889G= (p.Gly1963=)
c.5877G= (p.Gly1959=)
c.5850G= (p.Gly1950=)
n.6434G=
n.6408G=
c.6204G= (p.Gly2068=)
c.6198G= (p.Gly2066=)
c.6195G= (p.Gly2065=)
c.6090G= (p.Gly2030=)
c.6087G= (p.Gly2029=)
n.6193G=
n.6134G=
n.6179G=
11g.77211214G>TCA475791940MYO7Ac.6114G>T (p.Gly2038=)
c.3915G>T
c.5967G>T (p.Gly1989=)
c.3540G>T (p.Gly1180=)
c.6000G>T (p.Gly2000=)
n.3650G>T
n.25+303G>T
n.1581G>T
c.5997G>T (p.Gly1999=)
c.6105G>T (p.Gly2035=)
c.6108G>T (p.Gly2036=)
c.6081G>T (p.Gly2027=)
c.6018G>T (p.Gly2006=)
c.5889G>T (p.Gly1963=)
c.5877G>T (p.Gly1959=)
c.5850G>T (p.Gly1950=)
n.6434G>T
n.6408G>T
c.6204G>T (p.Gly2068=)
c.6198G>T (p.Gly2066=)
c.6195G>T (p.Gly2065=)
c.6090G>T (p.Gly2030=)
c.6087G>T (p.Gly2029=)
n.6193G>T
n.6134G>T
n.6179G>T
gnomAD v4
11g.77211215G>ACA381935782MYO7Ac.6115G>A (p.Ala2039Thr)
c.3916G>A
c.5968G>A (p.Ala1990Thr)
c.3541G>A (p.Ala1181Thr)
c.6001G>A (p.Ala2001Thr)
n.3651G>A
n.25+304G>A
n.1582G>A
c.5998G>A (p.Ala2000Thr)
c.6106G>A (p.Ala2036Thr)
c.6109G>A (p.Ala2037Thr)
c.6082G>A (p.Ala2028Thr)
c.6019G>A (p.Ala2007Thr)
c.5890G>A (p.Ala1964Thr)
c.5878G>A (p.Ala1960Thr)
c.5851G>A (p.Ala1951Thr)
n.6435G>A
n.6409G>A
c.6205G>A (p.Ala2069Thr)
c.6199G>A (p.Ala2067Thr)
c.6196G>A (p.Ala2066Thr)
c.6091G>A (p.Ala2031Thr)
c.6088G>A (p.Ala2030Thr)
n.6194G>A
n.6135G>A
n.6180G>A
dbSNP gnomAD v4
11g.77211215G>CCA381935785MYO7Ac.6115G>C (p.Ala2039Pro)
c.3916G>C
c.5968G>C (p.Ala1990Pro)
c.3541G>C (p.Ala1181Pro)
c.6001G>C (p.Ala2001Pro)
n.3651G>C
n.25+304G>C
n.1582G>C
c.5998G>C (p.Ala2000Pro)
c.6106G>C (p.Ala2036Pro)
c.6109G>C (p.Ala2037Pro)
c.6082G>C (p.Ala2028Pro)
c.6019G>C (p.Ala2007Pro)
c.5890G>C (p.Ala1964Pro)
c.5878G>C (p.Ala1960Pro)
c.5851G>C (p.Ala1951Pro)
n.6435G>C
n.6409G>C
c.6205G>C (p.Ala2069Pro)
c.6199G>C (p.Ala2067Pro)
c.6196G>C (p.Ala2066Pro)
c.6091G>C (p.Ala2031Pro)
c.6088G>C (p.Ala2030Pro)
n.6194G>C
n.6135G>C
n.6180G>C
11g.77211215G=CA1984129860MYO7Ac.6115G= (p.Ala2039=)
c.3916G=
c.5968G= (p.Ala1990=)
c.3541G= (p.Ala1181=)
c.6001G= (p.Ala2001=)
n.3651G=
n.25+304G=
n.1582G=
c.5998G= (p.Ala2000=)
c.6106G= (p.Ala2036=)
c.6109G= (p.Ala2037=)
c.6082G= (p.Ala2028=)
c.6019G= (p.Ala2007=)
c.5890G= (p.Ala1964=)
c.5878G= (p.Ala1960=)
c.5851G= (p.Ala1951=)
n.6435G=
n.6409G=
c.6205G= (p.Ala2069=)
c.6199G= (p.Ala2067=)
c.6196G= (p.Ala2066=)
c.6091G= (p.Ala2031=)
c.6088G= (p.Ala2030=)
n.6194G=
n.6135G=
n.6180G=
11g.77211215G>TCA381935788MYO7Ac.6115G>T (p.Ala2039Ser)
c.3916G>T
c.5968G>T (p.Ala1990Ser)
c.3541G>T (p.Ala1181Ser)
c.6001G>T (p.Ala2001Ser)
n.3651G>T
n.25+304G>T
n.1582G>T
c.5998G>T (p.Ala2000Ser)
c.6106G>T (p.Ala2036Ser)
c.6109G>T (p.Ala2037Ser)
c.6082G>T (p.Ala2028Ser)
c.6019G>T (p.Ala2007Ser)
c.5890G>T (p.Ala1964Ser)
c.5878G>T (p.Ala1960Ser)
c.5851G>T (p.Ala1951Ser)
n.6435G>T
n.6409G>T
c.6205G>T (p.Ala2069Ser)
c.6199G>T (p.Ala2067Ser)
c.6196G>T (p.Ala2066Ser)
c.6091G>T (p.Ala2031Ser)
c.6088G>T (p.Ala2030Ser)
n.6194G>T
n.6135G>T
n.6180G>T
ClinVar dbSNP
11g.77211216C>ACA381935791MYO7Ac.6116C>A (p.Ala2039Glu)
c.3917C>A
c.5969C>A (p.Ala1990Glu)
c.3542C>A (p.Ala1181Glu)
c.6002C>A (p.Ala2001Glu)
n.3652C>A
n.25+305C>A
n.1583C>A
c.5999C>A (p.Ala2000Glu)
c.6107C>A (p.Ala2036Glu)
c.6110C>A (p.Ala2037Glu)
c.6083C>A (p.Ala2028Glu)
c.6020C>A (p.Ala2007Glu)
c.5891C>A (p.Ala1964Glu)
c.5879C>A (p.Ala1960Glu)
c.5852C>A (p.Ala1951Glu)
n.6436C>A
n.6410C>A
c.6206C>A (p.Ala2069Glu)
c.6200C>A (p.Ala2067Glu)
c.6197C>A (p.Ala2066Glu)
c.6092C>A (p.Ala2031Glu)
c.6089C>A (p.Ala2030Glu)
n.6195C>A
n.6136C>A
n.6181C>A
gnomAD v4
11g.77211216C=CA1984129861MYO7Ac.6116C= (p.Ala2039=)
c.3917C=
c.5969C= (p.Ala1990=)
c.3542C= (p.Ala1181=)
c.6002C= (p.Ala2001=)
n.3652C=
n.25+305C=
n.1583C=
c.5999C= (p.Ala2000=)
c.6107C= (p.Ala2036=)
c.6110C= (p.Ala2037=)
c.6083C= (p.Ala2028=)
c.6020C= (p.Ala2007=)
c.5891C= (p.Ala1964=)
c.5879C= (p.Ala1960=)
c.5852C= (p.Ala1951=)
n.6436C=
n.6410C=
c.6206C= (p.Ala2069=)
c.6200C= (p.Ala2067=)
c.6197C= (p.Ala2066=)
c.6092C= (p.Ala2031=)
c.6089C= (p.Ala2030=)
n.6195C=
n.6136C=
n.6181C=
11g.77211216C>GCA381935793MYO7Ac.6116C>G (p.Ala2039Gly)
c.3917C>G
c.5969C>G (p.Ala1990Gly)
c.3542C>G (p.Ala1181Gly)
c.6002C>G (p.Ala2001Gly)
n.3652C>G
n.25+305C>G
n.1583C>G
c.5999C>G (p.Ala2000Gly)
c.6107C>G (p.Ala2036Gly)
c.6110C>G (p.Ala2037Gly)
c.6083C>G (p.Ala2028Gly)
c.6020C>G (p.Ala2007Gly)
c.5891C>G (p.Ala1964Gly)
c.5879C>G (p.Ala1960Gly)
c.5852C>G (p.Ala1951Gly)
n.6436C>G
n.6410C>G
c.6206C>G (p.Ala2069Gly)
c.6200C>G (p.Ala2067Gly)
c.6197C>G (p.Ala2066Gly)
c.6092C>G (p.Ala2031Gly)
c.6089C>G (p.Ala2030Gly)
n.6195C>G
n.6136C>G
n.6181C>G
11g.77211216C>TCA224827704MYO7Ac.6116C>T (p.Ala2039Val)
c.3917C>T
c.5969C>T (p.Ala1990Val)
c.3542C>T (p.Ala1181Val)
c.6002C>T (p.Ala2001Val)
n.3652C>T
n.25+305C>T
n.1583C>T
c.5999C>T (p.Ala2000Val)
c.6107C>T (p.Ala2036Val)
c.6110C>T (p.Ala2037Val)
c.6083C>T (p.Ala2028Val)
c.6020C>T (p.Ala2007Val)
c.5891C>T (p.Ala1964Val)
c.5879C>T (p.Ala1960Val)
c.5852C>T (p.Ala1951Val)
n.6436C>T
n.6410C>T
c.6206C>T (p.Ala2069Val)
c.6200C>T (p.Ala2067Val)
c.6197C>T (p.Ala2066Val)
c.6092C>T (p.Ala2031Val)
c.6089C>T (p.Ala2030Val)
n.6195C>T
n.6136C>T
n.6181C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.77211217G>ACA6198939MYO7Ac.6117G>A (p.Ala2039=)
c.3918G>A
c.5970G>A (p.Ala1990=)
c.3543G>A (p.Ala1181=)
c.6003G>A (p.Ala2001=)
n.3653G>A
n.25+306G>A
n.1584G>A
c.6000G>A (p.Ala2000=)
c.6108G>A (p.Ala2036=)
c.6111G>A (p.Ala2037=)
c.6084G>A (p.Ala2028=)
c.6021G>A (p.Ala2007=)
c.5892G>A (p.Ala1964=)
c.5880G>A (p.Ala1960=)
c.5853G>A (p.Ala1951=)
n.6437G>A
n.6411G>A
c.6207G>A (p.Ala2069=)
c.6201G>A (p.Ala2067=)
c.6198G>A (p.Ala2066=)
c.6093G>A (p.Ala2031=)
c.6090G>A (p.Ala2030=)
n.6196G>A
n.6137G>A
n.6182G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.77211217G>CCA475791944MYO7Ac.6117G>C (p.Ala2039=)
c.3918G>C
c.5970G>C (p.Ala1990=)
c.3543G>C (p.Ala1181=)
c.6003G>C (p.Ala2001=)
n.3653G>C
n.25+306G>C
n.1584G>C
c.6000G>C (p.Ala2000=)
c.6108G>C (p.Ala2036=)
c.6111G>C (p.Ala2037=)
c.6084G>C (p.Ala2028=)
c.6021G>C (p.Ala2007=)
c.5892G>C (p.Ala1964=)
c.5880G>C (p.Ala1960=)
c.5853G>C (p.Ala1951=)
n.6437G>C
n.6411G>C
c.6207G>C (p.Ala2069=)
c.6201G>C (p.Ala2067=)
c.6198G>C (p.Ala2066=)
c.6093G>C (p.Ala2031=)
c.6090G>C (p.Ala2030=)
n.6196G>C
n.6137G>C
n.6182G>C
11g.77211217G=CA1984129862MYO7Ac.6117G= (p.Ala2039=)
c.3918G=
c.5970G= (p.Ala1990=)
c.3543G= (p.Ala1181=)
c.6003G= (p.Ala2001=)
n.3653G=
n.25+306G=
n.1584G=
c.6000G= (p.Ala2000=)
c.6108G= (p.Ala2036=)
c.6111G= (p.Ala2037=)
c.6084G= (p.Ala2028=)
c.6021G= (p.Ala2007=)
c.5892G= (p.Ala1964=)
c.5880G= (p.Ala1960=)
c.5853G= (p.Ala1951=)
n.6437G=
n.6411G=
c.6207G= (p.Ala2069=)
c.6201G= (p.Ala2067=)
c.6198G= (p.Ala2066=)
c.6093G= (p.Ala2031=)
c.6090G= (p.Ala2030=)
n.6196G=
n.6137G=
n.6182G=
11g.77211217G>TCA475791945MYO7Ac.6117G>T (p.Ala2039=)
c.3918G>T
c.5970G>T (p.Ala1990=)
c.3543G>T (p.Ala1181=)
c.6003G>T (p.Ala2001=)
n.3653G>T
n.25+306G>T
n.1584G>T
c.6000G>T (p.Ala2000=)
c.6108G>T (p.Ala2036=)
c.6111G>T (p.Ala2037=)
c.6084G>T (p.Ala2028=)
c.6021G>T (p.Ala2007=)
c.5892G>T (p.Ala1964=)
c.5880G>T (p.Ala1960=)
c.5853G>T (p.Ala1951=)
n.6437G>T
n.6411G>T
c.6207G>T (p.Ala2069=)
c.6201G>T (p.Ala2067=)
c.6198G>T (p.Ala2066=)
c.6093G>T (p.Ala2031=)
c.6090G>T (p.Ala2030=)
n.6196G>T
n.6137G>T
n.6182G>T
gnomAD v4
11g.77211218C>ACA381935800MYO7Ac.6118C>A (p.Leu2040Met)
c.3919C>A
c.5971C>A (p.Leu1991Met)
c.3544C>A (p.Leu1182Met)
c.6004C>A (p.Leu2002Met)
n.3654C>A
n.25+307C>A
n.1585C>A
c.6001C>A (p.Leu2001Met)
c.6109C>A (p.Leu2037Met)
c.6112C>A (p.Leu2038Met)
c.6085C>A (p.Leu2029Met)
c.6022C>A (p.Leu2008Met)
c.5893C>A (p.Leu1965Met)
c.5881C>A (p.Leu1961Met)
c.5854C>A (p.Leu1952Met)
n.6438C>A
n.6412C>A
c.6208C>A (p.Leu2070Met)
c.6202C>A (p.Leu2068Met)
c.6199C>A (p.Leu2067Met)
c.6094C>A (p.Leu2032Met)
c.6091C>A (p.Leu2031Met)
n.6197C>A
n.6138C>A
n.6183C>A
gnomAD v4
11g.77211218C>GCA381935802MYO7Ac.6118C>G (p.Leu2040Val)
c.3919C>G
c.5971C>G (p.Leu1991Val)
c.3544C>G (p.Leu1182Val)
c.6004C>G (p.Leu2002Val)
n.3654C>G
n.25+307C>G
n.1585C>G
c.6001C>G (p.Leu2001Val)
c.6109C>G (p.Leu2037Val)
c.6112C>G (p.Leu2038Val)
c.6085C>G (p.Leu2029Val)
c.6022C>G (p.Leu2008Val)
c.5893C>G (p.Leu1965Val)
c.5881C>G (p.Leu1961Val)
c.5854C>G (p.Leu1952Val)
n.6438C>G
n.6412C>G
c.6208C>G (p.Leu2070Val)
c.6202C>G (p.Leu2068Val)
c.6199C>G (p.Leu2067Val)
c.6094C>G (p.Leu2032Val)
c.6091C>G (p.Leu2031Val)
n.6197C>G
n.6138C>G
n.6183C>G
11g.77211218C>TCA475791946MYO7Ac.6118C>T (p.Leu2040=)
c.3919C>T
c.5971C>T (p.Leu1991=)
c.3544C>T (p.Leu1182=)
c.6004C>T (p.Leu2002=)
n.3654C>T
n.25+307C>T
n.1585C>T
c.6001C>T (p.Leu2001=)
c.6109C>T (p.Leu2037=)
c.6112C>T (p.Leu2038=)
c.6085C>T (p.Leu2029=)
c.6022C>T (p.Leu2008=)
c.5893C>T (p.Leu1965=)
c.5881C>T (p.Leu1961=)
c.5854C>T (p.Leu1952=)
n.6438C>T
n.6412C>T
c.6208C>T (p.Leu2070=)
c.6202C>T (p.Leu2068=)
c.6199C>T (p.Leu2067=)
c.6094C>T (p.Leu2032=)
c.6091C>T (p.Leu2031=)
n.6197C>T
n.6138C>T
n.6183C>T
gnomAD v4
11g.77211219T>ACA381935806MYO7Ac.6119T>A (p.Leu2040Gln)
c.3920T>A
c.5972T>A (p.Leu1991Gln)
c.3545T>A (p.Leu1182Gln)
c.6005T>A (p.Leu2002Gln)
n.3655T>A
n.25+308T>A
n.1586T>A
c.6002T>A (p.Leu2001Gln)
c.6110T>A (p.Leu2037Gln)
c.6113T>A (p.Leu2038Gln)
c.6086T>A (p.Leu2029Gln)
c.6023T>A (p.Leu2008Gln)
c.5894T>A (p.Leu1965Gln)
c.5882T>A (p.Leu1961Gln)
c.5855T>A (p.Leu1952Gln)
n.6439T>A
n.6413T>A
c.6209T>A (p.Leu2070Gln)
c.6203T>A (p.Leu2068Gln)
c.6200T>A (p.Leu2067Gln)
c.6095T>A (p.Leu2032Gln)
c.6092T>A (p.Leu2031Gln)
n.6198T>A
n.6139T>A
n.6184T>A
gnomAD v4
11g.77211219T>CCA381935809MYO7Ac.6119T>C (p.Leu2040Pro)
c.3920T>C
c.5972T>C (p.Leu1991Pro)
c.3545T>C (p.Leu1182Pro)
c.6005T>C (p.Leu2002Pro)
n.3655T>C
n.25+308T>C
n.1586T>C
c.6002T>C (p.Leu2001Pro)
c.6110T>C (p.Leu2037Pro)
c.6113T>C (p.Leu2038Pro)
c.6086T>C (p.Leu2029Pro)
c.6023T>C (p.Leu2008Pro)
c.5894T>C (p.Leu1965Pro)
c.5882T>C (p.Leu1961Pro)
c.5855T>C (p.Leu1952Pro)
n.6439T>C
n.6413T>C
c.6209T>C (p.Leu2070Pro)
c.6203T>C (p.Leu2068Pro)
c.6200T>C (p.Leu2067Pro)
c.6095T>C (p.Leu2032Pro)
c.6092T>C (p.Leu2031Pro)
n.6198T>C
n.6139T>C
n.6184T>C
11g.77211219T>GCA381935811MYO7Ac.6119T>G (p.Leu2040Arg)
c.3920T>G
c.5972T>G (p.Leu1991Arg)
c.3545T>G (p.Leu1182Arg)
c.6005T>G (p.Leu2002Arg)
n.3655T>G
n.25+308T>G
n.1586T>G
c.6002T>G (p.Leu2001Arg)
c.6110T>G (p.Leu2037Arg)
c.6113T>G (p.Leu2038Arg)
c.6086T>G (p.Leu2029Arg)
c.6023T>G (p.Leu2008Arg)
c.5894T>G (p.Leu1965Arg)
c.5882T>G (p.Leu1961Arg)
c.5855T>G (p.Leu1952Arg)
n.6439T>G
n.6413T>G
c.6209T>G (p.Leu2070Arg)
c.6203T>G (p.Leu2068Arg)
c.6200T>G (p.Leu2067Arg)
c.6095T>G (p.Leu2032Arg)
c.6092T>G (p.Leu2031Arg)
n.6198T>G
n.6139T>G
n.6184T>G
11g.77211220G>ACA475791947MYO7Ac.6120G>A (p.Leu2040=)
c.3921G>A
c.5973G>A (p.Leu1991=)
c.3546G>A (p.Leu1182=)
c.6006G>A (p.Leu2002=)
n.3656G>A
n.25+309G>A
n.1587G>A
c.6003G>A (p.Leu2001=)
c.6111G>A (p.Leu2037=)
c.6114G>A (p.Leu2038=)
c.6087G>A (p.Leu2029=)
c.6024G>A (p.Leu2008=)
c.5895G>A (p.Leu1965=)
c.5883G>A (p.Leu1961=)
c.5856G>A (p.Leu1952=)
n.6440G>A
n.6414G>A
c.6210G>A (p.Leu2070=)
c.6204G>A (p.Leu2068=)
c.6201G>A (p.Leu2067=)
c.6096G>A (p.Leu2032=)
c.6093G>A (p.Leu2031=)
n.6199G>A
n.6140G>A
n.6185G>A
gnomAD v4
11g.77211220G>CCA475791948MYO7Ac.6120G>C (p.Leu2040=)
c.3921G>C
c.5973G>C (p.Leu1991=)
c.3546G>C (p.Leu1182=)
c.6006G>C (p.Leu2002=)
n.3656G>C
n.25+309G>C
n.1587G>C
c.6003G>C (p.Leu2001=)
c.6111G>C (p.Leu2037=)
c.6114G>C (p.Leu2038=)
c.6087G>C (p.Leu2029=)
c.6024G>C (p.Leu2008=)
c.5895G>C (p.Leu1965=)
c.5883G>C (p.Leu1961=)
c.5856G>C (p.Leu1952=)
n.6440G>C
n.6414G>C
c.6210G>C (p.Leu2070=)
c.6204G>C (p.Leu2068=)
c.6201G>C (p.Leu2067=)
c.6096G>C (p.Leu2032=)
c.6093G>C (p.Leu2031=)
n.6199G>C
n.6140G>C
n.6185G>C
ClinVar dbSNP gnomAD v4
11g.77211220G=CA1984129863MYO7Ac.6120G= (p.Leu2040=)
c.3921G=
c.5973G= (p.Leu1991=)
c.3546G= (p.Leu1182=)
c.6006G= (p.Leu2002=)
n.3656G=
n.25+309G=
n.1587G=
c.6003G= (p.Leu2001=)
c.6111G= (p.Leu2037=)
c.6114G= (p.Leu2038=)
c.6087G= (p.Leu2029=)
c.6024G= (p.Leu2008=)
c.5895G= (p.Leu1965=)
c.5883G= (p.Leu1961=)
c.5856G= (p.Leu1952=)
n.6440G=
n.6414G=
c.6210G= (p.Leu2070=)
c.6204G= (p.Leu2068=)
c.6201G= (p.Leu2067=)
c.6096G= (p.Leu2032=)
c.6093G= (p.Leu2031=)
n.6199G=
n.6140G=
n.6185G=
11g.77211220G>TCA475791949MYO7Ac.6120G>T (p.Leu2040=)
c.3921G>T
c.5973G>T (p.Leu1991=)
c.3546G>T (p.Leu1182=)
c.6006G>T (p.Leu2002=)
n.3656G>T
n.25+309G>T
n.1587G>T
c.6003G>T (p.Leu2001=)
c.6111G>T (p.Leu2037=)
c.6114G>T (p.Leu2038=)
c.6087G>T (p.Leu2029=)
c.6024G>T (p.Leu2008=)
c.5895G>T (p.Leu1965=)
c.5883G>T (p.Leu1961=)
c.5856G>T (p.Leu1952=)
n.6440G>T
n.6414G>T
c.6210G>T (p.Leu2070=)
c.6204G>T (p.Leu2068=)
c.6201G>T (p.Leu2067=)
c.6096G>T (p.Leu2032=)
c.6093G>T (p.Leu2031=)
n.6199G>T
n.6140G>T
n.6185G>T
gnomAD v4
11g.77211221A>CCA381935813MYO7Ac.6121A>C (p.Ile2041Leu)
c.3922A>C
c.5974A>C (p.Ile1992Leu)
c.3547A>C (p.Ile1183Leu)
c.6007A>C (p.Ile2003Leu)
n.3657A>C
n.25+310A>C
n.1588A>C
c.6004A>C (p.Ile2002Leu)
c.6112A>C (p.Ile2038Leu)
c.6115A>C (p.Ile2039Leu)
c.6088A>C (p.Ile2030Leu)
c.6025A>C (p.Ile2009Leu)
c.5896A>C (p.Ile1966Leu)
c.5884A>C (p.Ile1962Leu)
c.5857A>C (p.Ile1953Leu)
n.6441A>C
n.6415A>C
c.6211A>C (p.Ile2071Leu)
c.6205A>C (p.Ile2069Leu)
c.6202A>C (p.Ile2068Leu)
c.6097A>C (p.Ile2033Leu)
c.6094A>C (p.Ile2032Leu)
n.6200A>C
n.6141A>C
n.6186A>C
11g.77211221A>GCA381935814MYO7Ac.6121A>G (p.Ile2041Val)
c.3922A>G
c.5974A>G (p.Ile1992Val)
c.3547A>G (p.Ile1183Val)
c.6007A>G (p.Ile2003Val)
n.3657A>G
n.25+310A>G
n.1588A>G
c.6004A>G (p.Ile2002Val)
c.6112A>G (p.Ile2038Val)
c.6115A>G (p.Ile2039Val)
c.6088A>G (p.Ile2030Val)
c.6025A>G (p.Ile2009Val)
c.5896A>G (p.Ile1966Val)
c.5884A>G (p.Ile1962Val)
c.5857A>G (p.Ile1953Val)
n.6441A>G
n.6415A>G
c.6211A>G (p.Ile2071Val)
c.6205A>G (p.Ile2069Val)
c.6202A>G (p.Ile2068Val)
c.6097A>G (p.Ile2033Val)
c.6094A>G (p.Ile2032Val)
n.6200A>G
n.6141A>G
n.6186A>G
gnomAD v4 COSMIC
11g.77211221A>TCA381935815MYO7Ac.6121A>T (p.Ile2041Phe)
c.3922A>T
c.5974A>T (p.Ile1992Phe)
c.3547A>T (p.Ile1183Phe)
c.6007A>T (p.Ile2003Phe)
n.3657A>T
n.25+310A>T
n.1588A>T
c.6004A>T (p.Ile2002Phe)
c.6112A>T (p.Ile2038Phe)
c.6115A>T (p.Ile2039Phe)
c.6088A>T (p.Ile2030Phe)
c.6025A>T (p.Ile2009Phe)
c.5896A>T (p.Ile1966Phe)
c.5884A>T (p.Ile1962Phe)
c.5857A>T (p.Ile1953Phe)
n.6441A>T
n.6415A>T
c.6211A>T (p.Ile2071Phe)
c.6205A>T (p.Ile2069Phe)
c.6202A>T (p.Ile2068Phe)
c.6097A>T (p.Ile2033Phe)
c.6094A>T (p.Ile2032Phe)
n.6200A>T
n.6141A>T
n.6186A>T
11g.77211222T>ACA381935816MYO7Ac.6122T>A (p.Ile2041Asn)
c.3923T>A
c.5975T>A (p.Ile1992Asn)
c.3548T>A (p.Ile1183Asn)
c.6008T>A (p.Ile2003Asn)
n.3658T>A
n.25+311T>A
n.1589T>A
c.6005T>A (p.Ile2002Asn)
c.6113T>A (p.Ile2038Asn)
c.6116T>A (p.Ile2039Asn)
c.6089T>A (p.Ile2030Asn)
c.6026T>A (p.Ile2009Asn)
c.5897T>A (p.Ile1966Asn)
c.5885T>A (p.Ile1962Asn)
c.5858T>A (p.Ile1953Asn)
n.6442T>A
n.6416T>A
c.6212T>A (p.Ile2071Asn)
c.6206T>A (p.Ile2069Asn)
c.6203T>A (p.Ile2068Asn)
c.6098T>A (p.Ile2033Asn)
c.6095T>A (p.Ile2032Asn)
n.6201T>A
n.6142T>A
n.6187T>A
11g.77211222T>CCA381935818MYO7Ac.6122T>C (p.Ile2041Thr)
c.3923T>C
c.5975T>C (p.Ile1992Thr)
c.3548T>C (p.Ile1183Thr)
c.6008T>C (p.Ile2003Thr)
n.3658T>C
n.25+311T>C
n.1589T>C
c.6005T>C (p.Ile2002Thr)
c.6113T>C (p.Ile2038Thr)
c.6116T>C (p.Ile2039Thr)
c.6089T>C (p.Ile2030Thr)
c.6026T>C (p.Ile2009Thr)
c.5897T>C (p.Ile1966Thr)
c.5885T>C (p.Ile1962Thr)
c.5858T>C (p.Ile1953Thr)
n.6442T>C
n.6416T>C
c.6212T>C (p.Ile2071Thr)
c.6206T>C (p.Ile2069Thr)
c.6203T>C (p.Ile2068Thr)
c.6098T>C (p.Ile2033Thr)
c.6095T>C (p.Ile2032Thr)
n.6201T>C
n.6142T>C
n.6187T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.77211222T>GCA381935820MYO7Ac.6122T>G (p.Ile2041Ser)
c.3923T>G
c.5975T>G (p.Ile1992Ser)
c.3548T>G (p.Ile1183Ser)
c.6008T>G (p.Ile2003Ser)
n.3658T>G
n.25+311T>G
n.1589T>G
c.6005T>G (p.Ile2002Ser)
c.6113T>G (p.Ile2038Ser)
c.6116T>G (p.Ile2039Ser)
c.6089T>G (p.Ile2030Ser)
c.6026T>G (p.Ile2009Ser)
c.5897T>G (p.Ile1966Ser)
c.5885T>G (p.Ile1962Ser)
c.5858T>G (p.Ile1953Ser)
n.6442T>G
n.6416T>G
c.6212T>G (p.Ile2071Ser)
c.6206T>G (p.Ile2069Ser)
c.6203T>G (p.Ile2068Ser)
c.6098T>G (p.Ile2033Ser)
c.6095T>G (p.Ile2032Ser)
n.6201T>G
n.6142T>G
n.6187T>G
11g.77211222T=CA1984129864MYO7Ac.6122T= (p.Ile2041=)
c.3923T=
c.5975T= (p.Ile1992=)
c.3548T= (p.Ile1183=)
c.6008T= (p.Ile2003=)
n.3658T=
n.25+311T=
n.1589T=
c.6005T= (p.Ile2002=)
c.6113T= (p.Ile2038=)
c.6116T= (p.Ile2039=)
c.6089T= (p.Ile2030=)
c.6026T= (p.Ile2009=)
c.5897T= (p.Ile1966=)
c.5885T= (p.Ile1962=)
c.5858T= (p.Ile1953=)
n.6442T=
n.6416T=
c.6212T= (p.Ile2071=)
c.6206T= (p.Ile2069=)
c.6203T= (p.Ile2068=)
c.6098T= (p.Ile2033=)
c.6095T= (p.Ile2032=)
n.6201T=
n.6142T=
n.6187T=
11g.77211223C>ACA475791950MYO7Ac.6123C>A (p.Ile2041=)
c.3924C>A
c.5976C>A (p.Ile1992=)
c.3549C>A (p.Ile1183=)
c.6009C>A (p.Ile2003=)
n.3659C>A
n.25+312C>A
n.1590C>A
c.6006C>A (p.Ile2002=)
c.6114C>A (p.Ile2038=)
c.6117C>A (p.Ile2039=)
c.6090C>A (p.Ile2030=)
c.6027C>A (p.Ile2009=)
c.5898C>A (p.Ile1966=)
c.5886C>A (p.Ile1962=)
c.5859C>A (p.Ile1953=)
n.6443C>A
n.6417C>A
c.6213C>A (p.Ile2071=)
c.6207C>A (p.Ile2069=)
c.6204C>A (p.Ile2068=)
c.6099C>A (p.Ile2033=)
c.6096C>A (p.Ile2032=)
n.6202C>A
n.6143C>A
n.6188C>A
gnomAD v4
11g.77211223C=CA1984129865MYO7Ac.6123C= (p.Ile2041=)
c.3924C=
c.5976C= (p.Ile1992=)
c.3549C= (p.Ile1183=)
c.6009C= (p.Ile2003=)
n.3659C=
n.25+312C=
n.1590C=
c.6006C= (p.Ile2002=)
c.6114C= (p.Ile2038=)
c.6117C= (p.Ile2039=)
c.6090C= (p.Ile2030=)
c.6027C= (p.Ile2009=)
c.5898C= (p.Ile1966=)
c.5886C= (p.Ile1962=)
c.5859C= (p.Ile1953=)
n.6443C=
n.6417C=
c.6213C= (p.Ile2071=)
c.6207C= (p.Ile2069=)
c.6204C= (p.Ile2068=)
c.6099C= (p.Ile2033=)
c.6096C= (p.Ile2032=)
n.6202C=
n.6143C=
n.6188C=
11g.77211223C>GCA381935823MYO7Ac.6123C>G (p.Ile2041Met)
c.3924C>G
c.5976C>G (p.Ile1992Met)
c.3549C>G (p.Ile1183Met)
c.6009C>G (p.Ile2003Met)
n.3659C>G
n.25+312C>G
n.1590C>G
c.6006C>G (p.Ile2002Met)
c.6114C>G (p.Ile2038Met)
c.6117C>G (p.Ile2039Met)
c.6090C>G (p.Ile2030Met)
c.6027C>G (p.Ile2009Met)
c.5898C>G (p.Ile1966Met)
c.5886C>G (p.Ile1962Met)
c.5859C>G (p.Ile1953Met)
n.6443C>G
n.6417C>G
c.6213C>G (p.Ile2071Met)
c.6207C>G (p.Ile2069Met)
c.6204C>G (p.Ile2068Met)
c.6099C>G (p.Ile2033Met)
c.6096C>G (p.Ile2032Met)
n.6202C>G
n.6143C>G
n.6188C>G
11g.77211223C>TCA6198940MYO7Ac.6123C>T (p.Ile2041=)
c.3924C>T
c.5976C>T (p.Ile1992=)
c.3549C>T (p.Ile1183=)
c.6009C>T (p.Ile2003=)
n.3659C>T
n.25+312C>T
n.1590C>T
c.6006C>T (p.Ile2002=)
c.6114C>T (p.Ile2038=)
c.6117C>T (p.Ile2039=)
c.6090C>T (p.Ile2030=)
c.6027C>T (p.Ile2009=)
c.5898C>T (p.Ile1966=)
c.5886C>T (p.Ile1962=)
c.5859C>T (p.Ile1953=)
n.6443C>T
n.6417C>T
c.6213C>T (p.Ile2071=)
c.6207C>T (p.Ile2069=)
c.6204C>T (p.Ile2068=)
c.6099C>T (p.Ile2033=)
c.6096C>T (p.Ile2032=)
n.6202C>T
n.6143C>T
n.6188C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.77211224T>ACA381935830MYO7Ac.6124T>A (p.Tyr2042Asn)
c.3925T>A
c.5977T>A (p.Tyr1993Asn)
c.3550T>A (p.Tyr1184Asn)
c.6010T>A (p.Tyr2004Asn)
n.3660T>A
n.25+313T>A
n.1591T>A
c.6007T>A (p.Tyr2003Asn)
c.6115T>A (p.Tyr2039Asn)
c.6118T>A (p.Tyr2040Asn)
c.6091T>A (p.Tyr2031Asn)
c.6028T>A (p.Tyr2010Asn)
c.5899T>A (p.Tyr1967Asn)
c.5887T>A (p.Tyr1963Asn)
c.5860T>A (p.Tyr1954Asn)
n.6444T>A
n.6418T>A
c.6214T>A (p.Tyr2072Asn)
c.6208T>A (p.Tyr2070Asn)
c.6205T>A (p.Tyr2069Asn)
c.6100T>A (p.Tyr2034Asn)
c.6097T>A (p.Tyr2033Asn)
n.6203T>A
n.6144T>A
n.6189T>A
11g.77211224T>CCA381935828MYO7Ac.6124T>C (p.Tyr2042His)
c.3925T>C
c.5977T>C (p.Tyr1993His)
c.3550T>C (p.Tyr1184His)
c.6010T>C (p.Tyr2004His)
n.3660T>C
n.25+313T>C
n.1591T>C
c.6007T>C (p.Tyr2003His)
c.6115T>C (p.Tyr2039His)
c.6118T>C (p.Tyr2040His)
c.6091T>C (p.Tyr2031His)
c.6028T>C (p.Tyr2010His)
c.5899T>C (p.Tyr1967His)
c.5887T>C (p.Tyr1963His)
c.5860T>C (p.Tyr1954His)
n.6444T>C
n.6418T>C
c.6214T>C (p.Tyr2072His)
c.6208T>C (p.Tyr2070His)
c.6205T>C (p.Tyr2069His)
c.6100T>C (p.Tyr2034His)
c.6097T>C (p.Tyr2033His)
n.6203T>C
n.6144T>C
n.6189T>C
11g.77211224T>GCA381935825MYO7Ac.6124T>G (p.Tyr2042Asp)
c.3925T>G
c.5977T>G (p.Tyr1993Asp)
c.3550T>G (p.Tyr1184Asp)
c.6010T>G (p.Tyr2004Asp)
n.3660T>G
n.25+313T>G
n.1591T>G
c.6007T>G (p.Tyr2003Asp)
c.6115T>G (p.Tyr2039Asp)
c.6118T>G (p.Tyr2040Asp)
c.6091T>G (p.Tyr2031Asp)
c.6028T>G (p.Tyr2010Asp)
c.5899T>G (p.Tyr1967Asp)
c.5887T>G (p.Tyr1963Asp)
c.5860T>G (p.Tyr1954Asp)
n.6444T>G
n.6418T>G
c.6214T>G (p.Tyr2072Asp)
c.6208T>G (p.Tyr2070Asp)
c.6205T>G (p.Tyr2069Asp)
c.6100T>G (p.Tyr2034Asp)
c.6097T>G (p.Tyr2033Asp)
n.6203T>G
n.6144T>G
n.6189T>G
11g.77211225A>CCA381935833MYO7Ac.6125A>C (p.Tyr2042Ser)
c.3926A>C
c.5978A>C (p.Tyr1993Ser)
c.3551A>C (p.Tyr1184Ser)
c.6011A>C (p.Tyr2004Ser)
n.3661A>C
n.25+314A>C
n.1592A>C
c.6008A>C (p.Tyr2003Ser)
c.6116A>C (p.Tyr2039Ser)
c.6119A>C (p.Tyr2040Ser)
c.6092A>C (p.Tyr2031Ser)
c.6029A>C (p.Tyr2010Ser)
c.5900A>C (p.Tyr1967Ser)
c.5888A>C (p.Tyr1963Ser)
c.5861A>C (p.Tyr1954Ser)
n.6445A>C
n.6419A>C
c.6215A>C (p.Tyr2072Ser)
c.6209A>C (p.Tyr2070Ser)
c.6206A>C (p.Tyr2069Ser)
c.6101A>C (p.Tyr2034Ser)
c.6098A>C (p.Tyr2033Ser)
n.6204A>C
n.6145A>C
n.6190A>C
11g.77211225A>GCA381935836MYO7Ac.6125A>G (p.Tyr2042Cys)
c.3926A>G
c.5978A>G (p.Tyr1993Cys)
c.3551A>G (p.Tyr1184Cys)
c.6011A>G (p.Tyr2004Cys)
n.3661A>G
n.25+314A>G
n.1592A>G
c.6008A>G (p.Tyr2003Cys)
c.6116A>G (p.Tyr2039Cys)
c.6119A>G (p.Tyr2040Cys)
c.6092A>G (p.Tyr2031Cys)
c.6029A>G (p.Tyr2010Cys)
c.5900A>G (p.Tyr1967Cys)
c.5888A>G (p.Tyr1963Cys)
c.5861A>G (p.Tyr1954Cys)
n.6445A>G
n.6419A>G
c.6215A>G (p.Tyr2072Cys)
c.6209A>G (p.Tyr2070Cys)
c.6206A>G (p.Tyr2069Cys)
c.6101A>G (p.Tyr2034Cys)
c.6098A>G (p.Tyr2033Cys)
n.6204A>G
n.6145A>G
n.6190A>G
gnomAD v4
11g.77211225A>TCA381935838MYO7Ac.6125A>T (p.Tyr2042Phe)
c.3926A>T
c.5978A>T (p.Tyr1993Phe)
c.3551A>T (p.Tyr1184Phe)
c.6011A>T (p.Tyr2004Phe)
n.3661A>T
n.25+314A>T
n.1592A>T
c.6008A>T (p.Tyr2003Phe)
c.6116A>T (p.Tyr2039Phe)
c.6119A>T (p.Tyr2040Phe)
c.6092A>T (p.Tyr2031Phe)
c.6029A>T (p.Tyr2010Phe)
c.5900A>T (p.Tyr1967Phe)
c.5888A>T (p.Tyr1963Phe)
c.5861A>T (p.Tyr1954Phe)
n.6445A>T
n.6419A>T
c.6215A>T (p.Tyr2072Phe)
c.6209A>T (p.Tyr2070Phe)
c.6206A>T (p.Tyr2069Phe)
c.6101A>T (p.Tyr2034Phe)
c.6098A>T (p.Tyr2033Phe)
n.6204A>T
n.6145A>T
n.6190A>T
11g.77211226C>ACA381935841MYO7Ac.6126C>A (p.Tyr2042Ter)
c.3927C>A
c.5979C>A (p.Tyr1993Ter)
c.3552C>A (p.Tyr1184Ter)
c.6012C>A (p.Tyr2004Ter)
n.3662C>A
n.25+315C>A
n.1593C>A
c.6009C>A (p.Tyr2003Ter)
c.6117C>A (p.Tyr2039Ter)
c.6120C>A (p.Tyr2040Ter)
c.6093C>A (p.Tyr2031Ter)
c.6030C>A (p.Tyr2010Ter)
c.5901C>A (p.Tyr1967Ter)
c.5889C>A (p.Tyr1963Ter)
c.5862C>A (p.Tyr1954Ter)
n.6446C>A
n.6420C>A
c.6216C>A (p.Tyr2072Ter)
c.6210C>A (p.Tyr2070Ter)
c.6207C>A (p.Tyr2069Ter)
c.6102C>A (p.Tyr2034Ter)
c.6099C>A (p.Tyr2033Ter)
n.6205C>A
n.6146C>A
n.6191C>A
gnomAD v4
11g.77211226C=CA1984129866MYO7Ac.6126C= (p.Tyr2042=)
c.3927C=
c.5979C= (p.Tyr1993=)
c.3552C= (p.Tyr1184=)
c.6012C= (p.Tyr2004=)
n.3662C=
n.25+315C=
n.1593C=
c.6009C= (p.Tyr2003=)
c.6117C= (p.Tyr2039=)
c.6120C= (p.Tyr2040=)
c.6093C= (p.Tyr2031=)
c.6030C= (p.Tyr2010=)
c.5901C= (p.Tyr1967=)
c.5889C= (p.Tyr1963=)
c.5862C= (p.Tyr1954=)
n.6446C=
n.6420C=
c.6216C= (p.Tyr2072=)
c.6210C= (p.Tyr2070=)
c.6207C= (p.Tyr2069=)
c.6102C= (p.Tyr2034=)
c.6099C= (p.Tyr2033=)
n.6205C=
n.6146C=
n.6191C=
11g.77211226C>GCA381935843MYO7Ac.6126C>G (p.Tyr2042Ter)
c.3927C>G
c.5979C>G (p.Tyr1993Ter)
c.3552C>G (p.Tyr1184Ter)
c.6012C>G (p.Tyr2004Ter)
n.3662C>G
n.25+315C>G
n.1593C>G
c.6009C>G (p.Tyr2003Ter)
c.6117C>G (p.Tyr2039Ter)
c.6120C>G (p.Tyr2040Ter)
c.6093C>G (p.Tyr2031Ter)
c.6030C>G (p.Tyr2010Ter)
c.5901C>G (p.Tyr1967Ter)
c.5889C>G (p.Tyr1963Ter)
c.5862C>G (p.Tyr1954Ter)
n.6446C>G
n.6420C>G
c.6216C>G (p.Tyr2072Ter)
c.6210C>G (p.Tyr2070Ter)
c.6207C>G (p.Tyr2069Ter)
c.6102C>G (p.Tyr2034Ter)
c.6099C>G (p.Tyr2033Ter)
n.6205C>G
n.6146C>G
n.6191C>G
ClinVar dbSNP gnomAD v4
11g.77211226C>TCA475791954MYO7Ac.6126C>T (p.Tyr2042=)
c.3927C>T
c.5979C>T (p.Tyr1993=)
c.3552C>T (p.Tyr1184=)
c.6012C>T (p.Tyr2004=)
n.3662C>T
n.25+315C>T
n.1593C>T
c.6009C>T (p.Tyr2003=)
c.6117C>T (p.Tyr2039=)
c.6120C>T (p.Tyr2040=)
c.6093C>T (p.Tyr2031=)
c.6030C>T (p.Tyr2010=)
c.5901C>T (p.Tyr1967=)
c.5889C>T (p.Tyr1963=)
c.5862C>T (p.Tyr1954=)
n.6446C>T
n.6420C>T
c.6216C>T (p.Tyr2072=)
c.6210C>T (p.Tyr2070=)
c.6207C>T (p.Tyr2069=)
c.6102C>T (p.Tyr2034=)
c.6099C>T (p.Tyr2033=)
n.6205C>T
n.6146C>T
n.6191C>T
ClinVar dbSNP gnomAD v4
11g.77211227A=CA1984129867MYO7Ac.6127A= (p.Arg2043=)
c.3928A=
c.5980A= (p.Arg1994=)
c.3553A= (p.Arg1185=)
c.6013A= (p.Arg2005=)
n.3663A=
n.25+316A=
n.1594A=
c.6010A= (p.Arg2004=)
c.6118A= (p.Arg2040=)
c.6121A= (p.Arg2041=)
c.6094A= (p.Arg2032=)
c.6031A= (p.Arg2011=)
c.5902A= (p.Arg1968=)
c.5890A= (p.Arg1964=)
c.5863A= (p.Arg1955=)
n.6447A=
n.6421A=
c.6217A= (p.Arg2073=)
c.6211A= (p.Arg2071=)
c.6208A= (p.Arg2070=)
c.6103A= (p.Arg2035=)
c.6100A= (p.Arg2034=)
n.6206A=
n.6147A=
n.6192A=

Number of alleles fetched