Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.77211215del | CA2615262574 | MYO7A | c.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 |
11 | g.77211214_77211215del | CA2574931907 | MYO7A | c.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 | |
11 | g.77211214G>A | CA224827699 | MYO7A | c.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 |
11 | g.77211214G>C | CA475791938 | MYO7A | c.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 | |
11 | g.77211214G= | CA1984129859 | MYO7A | c.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= | |
11 | g.77211214G>T | CA475791940 | MYO7A | c.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 |
11 | g.77211215G>A | CA381935782 | MYO7A | c.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 |
11 | g.77211215G>C | CA381935785 | MYO7A | c.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 | |
11 | g.77211215G= | CA1984129860 | MYO7A | c.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= | |
11 | g.77211215G>T | CA381935788 | MYO7A | c.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 |
11 | g.77211216C>A | CA381935791 | MYO7A | c.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 |
11 | g.77211216C= | CA1984129861 | MYO7A | c.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= | |
11 | g.77211216C>G | CA381935793 | MYO7A | c.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 | |
11 | g.77211216C>T | CA224827704 | MYO7A | c.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 |
11 | g.77211217G>A | CA6198939 | MYO7A | c.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 |
11 | g.77211217G>C | CA475791944 | MYO7A | c.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 | |
11 | g.77211217G= | CA1984129862 | MYO7A | c.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= | |
11 | g.77211217G>T | CA475791945 | MYO7A | c.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 |
11 | g.77211218C>A | CA381935800 | MYO7A | c.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 |
11 | g.77211218C>G | CA381935802 | MYO7A | c.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 | |
11 | g.77211218C>T | CA475791946 | MYO7A | c.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 |
11 | g.77211219T>A | CA381935806 | MYO7A | c.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 |
11 | g.77211219T>C | CA381935809 | MYO7A | c.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 | |
11 | g.77211219T>G | CA381935811 | MYO7A | c.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 | |
11 | g.77211220G>A | CA475791947 | MYO7A | c.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 |
11 | g.77211220G>C | CA475791948 | MYO7A | c.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 |
11 | g.77211220G= | CA1984129863 | MYO7A | c.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= | |
11 | g.77211220G>T | CA475791949 | MYO7A | c.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 |
11 | g.77211221A>C | CA381935813 | MYO7A | c.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 | |
11 | g.77211221A>G | CA381935814 | MYO7A | c.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 |
11 | g.77211221A>T | CA381935815 | MYO7A | c.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 | |
11 | g.77211222T>A | CA381935816 | MYO7A | c.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 | |
11 | g.77211222T>C | CA381935818 | MYO7A | c.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 |
11 | g.77211222T>G | CA381935820 | MYO7A | c.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 | |
11 | g.77211222T= | CA1984129864 | MYO7A | c.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= | |
11 | g.77211223C>A | CA475791950 | MYO7A | c.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 |
11 | g.77211223C= | CA1984129865 | MYO7A | c.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= | |
11 | g.77211223C>G | CA381935823 | MYO7A | c.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 | |
11 | g.77211223C>T | CA6198940 | MYO7A | c.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 |
11 | g.77211224T>A | CA381935830 | MYO7A | c.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 | |
11 | g.77211224T>C | CA381935828 | MYO7A | c.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 | |
11 | g.77211224T>G | CA381935825 | MYO7A | c.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 | |
11 | g.77211225A>C | CA381935833 | MYO7A | c.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 | |
11 | g.77211225A>G | CA381935836 | MYO7A | c.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 |
11 | g.77211225A>T | CA381935838 | MYO7A | c.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 | |
11 | g.77211226C>A | CA381935841 | MYO7A | c.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 |
11 | g.77211226C= | CA1984129866 | MYO7A | c.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= | |
11 | g.77211226C>G | CA381935843 | MYO7A | c.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 |
11 | g.77211226C>T | CA475791954 | MYO7A | c.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 |
11 | g.77211227A= | CA1984129867 | MYO7A | c.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= |