UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.77211328_77211332del | CA2573147840 | MYO7A | c.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 |
| 11 | g.77211327A>C | CA381936319 | MYO7A | c.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 | |
| 11 | g.77211327A>G | CA381936322 | MYO7A | c.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 |
| 11 | g.77211327A>T | CA381936325 | MYO7A | c.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 | |
| 11 | g.77211328C>A | CA381936330 | MYO7A | c.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 |
| 11 | g.77211328C>G | CA381936328 | MYO7A | c.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 | |
| 11 | g.77211328C>T | CA475792075 | MYO7A | c.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 |
| 11 | g.77211329T>A | CA381936332 | MYO7A | c.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 | |
| 11 | g.77211329T>C | CA381936334 | MYO7A | c.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 |
| 11 | g.77211329T>G | CA381936336 | MYO7A | c.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 | |
| 11 | g.77211329dup | CA2573053568 | MYO7A | c.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 |
| 11 | g.77211329_77211330delinsTG | CA1984129914 | MYO7A | c.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 | |
| 11 | g.77211330G>A | CA6198955 | MYO7A | c.6230G>A (p.Trp2077Ter) c.4031G>A c.6083G>A (p.Trp2028Ter) c.3656G>A (p.Trp1219Ter) c.6116G>A (p.Trp2039Ter) n.3766G>A n.25+419G>A n.1697G>A c.6113G>A (p.Trp2038Ter) c.6221G>A (p.Trp2074Ter) c.6224G>A (p.Trp2075Ter) c.6197G>A (p.Trp2066Ter) c.6134G>A (p.Trp2045Ter) c.6005G>A (p.Trp2002Ter) c.5993G>A (p.Trp1998Ter) c.5966G>A (p.Trp1989Ter) n.6550G>A n.6524G>A c.6320G>A (p.Trp2107Ter) c.6314G>A (p.Trp2105Ter) c.6311G>A (p.Trp2104Ter) c.6206G>A (p.Trp2069Ter) c.6203G>A (p.Trp2068Ter) n.6309G>A n.6295G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77211330G>C | CA381936344 | MYO7A | c.6230G>C (p.Trp2077Ser) c.4031G>C c.6083G>C (p.Trp2028Ser) c.3656G>C (p.Trp1219Ser) c.6116G>C (p.Trp2039Ser) n.3766G>C n.25+419G>C n.1697G>C c.6113G>C (p.Trp2038Ser) c.6221G>C (p.Trp2074Ser) c.6224G>C (p.Trp2075Ser) c.6197G>C (p.Trp2066Ser) c.6134G>C (p.Trp2045Ser) c.6005G>C (p.Trp2002Ser) c.5993G>C (p.Trp1998Ser) c.5966G>C (p.Trp1989Ser) n.6550G>C n.6524G>C c.6320G>C (p.Trp2107Ser) c.6314G>C (p.Trp2105Ser) c.6311G>C (p.Trp2104Ser) c.6206G>C (p.Trp2069Ser) c.6203G>C (p.Trp2068Ser) n.6309G>C n.6295G>C | gnomAD v4 |
| 11 | g.77211330G= | CA1984129915 | MYO7A | c.6230G= (p.Trp2077=) c.4031G= c.6083G= (p.Trp2028=) c.3656G= (p.Trp1219=) c.6116G= (p.Trp2039=) n.3766G= n.25+419G= n.1697G= c.6113G= (p.Trp2038=) c.6221G= (p.Trp2074=) c.6224G= (p.Trp2075=) c.6197G= (p.Trp2066=) c.6134G= (p.Trp2045=) c.6005G= (p.Trp2002=) c.5993G= (p.Trp1998=) c.5966G= (p.Trp1989=) n.6550G= n.6524G= c.6320G= (p.Trp2107=) c.6314G= (p.Trp2105=) c.6311G= (p.Trp2104=) c.6206G= (p.Trp2069=) c.6203G= (p.Trp2068=) n.6309G= n.6295G= | |
| 11 | g.77211330G>T | CA381936345 | MYO7A | c.6230G>T (p.Trp2077Leu) c.4031G>T c.6083G>T (p.Trp2028Leu) c.3656G>T (p.Trp1219Leu) c.6116G>T (p.Trp2039Leu) n.3766G>T n.25+419G>T n.1697G>T c.6113G>T (p.Trp2038Leu) c.6221G>T (p.Trp2074Leu) c.6224G>T (p.Trp2075Leu) c.6197G>T (p.Trp2066Leu) c.6134G>T (p.Trp2045Leu) c.6005G>T (p.Trp2002Leu) c.5993G>T (p.Trp1998Leu) c.5966G>T (p.Trp1989Leu) n.6550G>T n.6524G>T c.6320G>T (p.Trp2107Leu) c.6314G>T (p.Trp2105Leu) c.6311G>T (p.Trp2104Leu) c.6206G>T (p.Trp2069Leu) c.6203G>T (p.Trp2068Leu) n.6309G>T n.6295G>T | |
| 11 | g.77211331dup | CA278745 | MYO7A | c.6231dup (p.Lys2078GlufsTer?) c.4032dup c.6084dup (p.Lys2029GlufsTer?) c.3657dup (p.Lys1220GlufsTer?) c.6117dup (p.Lys2040GlufsTer?) n.3767dup n.25+420dup n.1698dup c.6114dup (p.Lys2039GlufsTer?) c.6222dup (p.Lys2075GlufsTer?) c.6225dup (p.Lys2076GlufsTer?) c.6198dup (p.Lys2067GlufsTer?) c.6135dup (p.Lys2046GlufsTer?) c.6006dup (p.Lys2003GlufsTer?) c.5994dup (p.Lys1999GlufsTer?) c.5967dup (p.Lys1990GlufsTer?) n.6551dup n.6525dup c.6321dup (p.Lys2108GlufsTer?) c.6315dup (p.Lys2106GlufsTer?) c.6312dup (p.Lys2105GlufsTer?) c.6207dup (p.Lys2070GlufsTer?) c.6204dup (p.Lys2069GlufsTer?) n.6310dup n.6296dup | ClinVar dbSNP |
| 11 | g.77211331del | CA6198954 | MYO7A | c.6231del (p.Trp2077Ter) c.4032del c.6084del (p.Trp2028Ter) c.3657del (p.Trp1219Ter) c.6117del (p.Trp2039Ter) n.3767del n.25+420del n.1698del c.6114del (p.Trp2038Ter) c.6222del (p.Trp2074Ter) c.6225del (p.Trp2075Ter) c.6198del (p.Trp2066Ter) c.6135del (p.Trp2045Ter) c.6006del (p.Trp2002Ter) c.5994del (p.Trp1998Ter) c.5967del (p.Trp1989Ter) n.6551del n.6525del c.6321del (p.Trp2107Ter) c.6315del (p.Trp2105Ter) c.6312del (p.Trp2104Ter) c.6207del (p.Trp2069Ter) c.6204del (p.Trp2068Ter) n.6310del n.6296del | dbSNP ExAC gnomAD v2 |
| 11 | g.77211331G>A | CA381936351 | MYO7A | c.6231G>A (p.Trp2077Ter) c.4032G>A c.6084G>A (p.Trp2028Ter) c.3657G>A (p.Trp1219Ter) c.6117G>A (p.Trp2039Ter) n.3767G>A n.25+420G>A n.1698G>A c.6114G>A (p.Trp2038Ter) c.6222G>A (p.Trp2074Ter) c.6225G>A (p.Trp2075Ter) c.6198G>A (p.Trp2066Ter) c.6135G>A (p.Trp2045Ter) c.6006G>A (p.Trp2002Ter) c.5994G>A (p.Trp1998Ter) c.5967G>A (p.Trp1989Ter) n.6551G>A n.6525G>A c.6321G>A (p.Trp2107Ter) c.6315G>A (p.Trp2105Ter) c.6312G>A (p.Trp2104Ter) c.6207G>A (p.Trp2069Ter) c.6204G>A (p.Trp2068Ter) n.6310G>A n.6296G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77211331G>C | CA381936355 | MYO7A | c.6231G>C (p.Trp2077Cys) c.4032G>C c.6084G>C (p.Trp2028Cys) c.3657G>C (p.Trp1219Cys) c.6117G>C (p.Trp2039Cys) n.3767G>C n.25+420G>C n.1698G>C c.6114G>C (p.Trp2038Cys) c.6222G>C (p.Trp2074Cys) c.6225G>C (p.Trp2075Cys) c.6198G>C (p.Trp2066Cys) c.6135G>C (p.Trp2045Cys) c.6006G>C (p.Trp2002Cys) c.5994G>C (p.Trp1998Cys) c.5967G>C (p.Trp1989Cys) n.6551G>C n.6525G>C c.6321G>C (p.Trp2107Cys) c.6315G>C (p.Trp2105Cys) c.6312G>C (p.Trp2104Cys) c.6207G>C (p.Trp2069Cys) c.6204G>C (p.Trp2068Cys) n.6310G>C n.6296G>C | ClinVar gnomAD v4 |
| 11 | g.77211331G= | CA1984129916 | MYO7A | c.6231G= (p.Trp2077=) c.4032G= c.6084G= (p.Trp2028=) c.3657G= (p.Trp1219=) c.6117G= (p.Trp2039=) n.3767G= n.25+420G= n.1698G= c.6114G= (p.Trp2038=) c.6222G= (p.Trp2074=) c.6225G= (p.Trp2075=) c.6198G= (p.Trp2066=) c.6135G= (p.Trp2045=) c.6006G= (p.Trp2002=) c.5994G= (p.Trp1998=) c.5967G= (p.Trp1989=) n.6551G= n.6525G= c.6321G= (p.Trp2107=) c.6315G= (p.Trp2105=) c.6312G= (p.Trp2104=) c.6207G= (p.Trp2069=) c.6204G= (p.Trp2068=) n.6310G= n.6296G= | |
| 11 | g.77211331G>T | CA381936353 | MYO7A | c.6231G>T (p.Trp2077Cys) c.4032G>T c.6084G>T (p.Trp2028Cys) c.3657G>T (p.Trp1219Cys) c.6117G>T (p.Trp2039Cys) n.3767G>T n.25+420G>T n.1698G>T c.6114G>T (p.Trp2038Cys) c.6222G>T (p.Trp2074Cys) c.6225G>T (p.Trp2075Cys) c.6198G>T (p.Trp2066Cys) c.6135G>T (p.Trp2045Cys) c.6006G>T (p.Trp2002Cys) c.5994G>T (p.Trp1998Cys) c.5967G>T (p.Trp1989Cys) n.6551G>T n.6525G>T c.6321G>T (p.Trp2107Cys) c.6315G>T (p.Trp2105Cys) c.6312G>T (p.Trp2104Cys) c.6207G>T (p.Trp2069Cys) c.6204G>T (p.Trp2068Cys) n.6310G>T n.6296G>T | gnomAD v4 |
| 11 | g.77211332A= | CA1984129917 | MYO7A | c.6232A= (p.Lys2078=) c.4033A= c.6085A= (p.Lys2029=) c.3658A= (p.Lys1220=) c.6118A= (p.Lys2040=) n.3768A= n.25+421A= n.1699A= c.6115A= (p.Lys2039=) c.6223A= (p.Lys2075=) c.6226A= (p.Lys2076=) c.6199A= (p.Lys2067=) c.6136A= (p.Lys2046=) c.6007A= (p.Lys2003=) c.5995A= (p.Lys1999=) c.5968A= (p.Lys1990=) n.6552A= n.6526A= c.6322A= (p.Lys2108=) c.6316A= (p.Lys2106=) c.6313A= (p.Lys2105=) c.6208A= (p.Lys2070=) c.6205A= (p.Lys2069=) n.6311A= n.6297A= | |
| 11 | g.77211332A>C | CA381936358 | MYO7A | c.6232A>C (p.Lys2078Gln) c.4033A>C c.6085A>C (p.Lys2029Gln) c.3658A>C (p.Lys1220Gln) c.6118A>C (p.Lys2040Gln) n.3768A>C n.25+421A>C n.1699A>C c.6115A>C (p.Lys2039Gln) c.6223A>C (p.Lys2075Gln) c.6226A>C (p.Lys2076Gln) c.6199A>C (p.Lys2067Gln) c.6136A>C (p.Lys2046Gln) c.6007A>C (p.Lys2003Gln) c.5995A>C (p.Lys1999Gln) c.5968A>C (p.Lys1990Gln) n.6552A>C n.6526A>C c.6322A>C (p.Lys2108Gln) c.6316A>C (p.Lys2106Gln) c.6313A>C (p.Lys2105Gln) c.6208A>C (p.Lys2070Gln) c.6205A>C (p.Lys2069Gln) n.6311A>C n.6297A>C | |
| 11 | g.77211332A>G | CA381936359 | MYO7A | c.6232A>G (p.Lys2078Glu) c.4033A>G c.6085A>G (p.Lys2029Glu) c.3658A>G (p.Lys1220Glu) c.6118A>G (p.Lys2040Glu) n.3768A>G n.25+421A>G n.1699A>G c.6115A>G (p.Lys2039Glu) c.6223A>G (p.Lys2075Glu) c.6226A>G (p.Lys2076Glu) c.6199A>G (p.Lys2067Glu) c.6136A>G (p.Lys2046Glu) c.6007A>G (p.Lys2003Glu) c.5995A>G (p.Lys1999Glu) c.5968A>G (p.Lys1990Glu) n.6552A>G n.6526A>G c.6322A>G (p.Lys2108Glu) c.6316A>G (p.Lys2106Glu) c.6313A>G (p.Lys2105Glu) c.6208A>G (p.Lys2070Glu) c.6205A>G (p.Lys2069Glu) n.6311A>G n.6297A>G | |
| 11 | g.77211332A>T | CA381936362 | MYO7A | c.6232A>T (p.Lys2078Ter) c.4033A>T c.6085A>T (p.Lys2029Ter) c.3658A>T (p.Lys1220Ter) c.6118A>T (p.Lys2040Ter) n.3768A>T n.25+421A>T n.1699A>T c.6115A>T (p.Lys2039Ter) c.6223A>T (p.Lys2075Ter) c.6226A>T (p.Lys2076Ter) c.6199A>T (p.Lys2067Ter) c.6136A>T (p.Lys2046Ter) c.6007A>T (p.Lys2003Ter) c.5995A>T (p.Lys1999Ter) c.5968A>T (p.Lys1990Ter) n.6552A>T n.6526A>T c.6322A>T (p.Lys2108Ter) c.6316A>T (p.Lys2106Ter) c.6313A>T (p.Lys2105Ter) c.6208A>T (p.Lys2070Ter) c.6205A>T (p.Lys2069Ter) n.6311A>T n.6297A>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.77211333A>C | CA381936366 | MYO7A | c.6233A>C (p.Lys2078Thr) c.4034A>C c.6086A>C (p.Lys2029Thr) c.3659A>C (p.Lys1220Thr) c.6119A>C (p.Lys2040Thr) n.3769A>C n.25+422A>C n.1700A>C c.6116A>C (p.Lys2039Thr) c.6224A>C (p.Lys2075Thr) c.6227A>C (p.Lys2076Thr) c.6200A>C (p.Lys2067Thr) c.6137A>C (p.Lys2046Thr) c.6008A>C (p.Lys2003Thr) c.5996A>C (p.Lys1999Thr) c.5969A>C (p.Lys1990Thr) n.6553A>C n.6527A>C c.6323A>C (p.Lys2108Thr) c.6317A>C (p.Lys2106Thr) c.6314A>C (p.Lys2105Thr) c.6209A>C (p.Lys2070Thr) c.6206A>C (p.Lys2069Thr) n.6312A>C n.6298A>C | |
| 11 | g.77211333A>G | CA381936370 | MYO7A | c.6233A>G (p.Lys2078Arg) c.4034A>G c.6086A>G (p.Lys2029Arg) c.3659A>G (p.Lys1220Arg) c.6119A>G (p.Lys2040Arg) n.3769A>G n.25+422A>G n.1700A>G c.6116A>G (p.Lys2039Arg) c.6224A>G (p.Lys2075Arg) c.6227A>G (p.Lys2076Arg) c.6200A>G (p.Lys2067Arg) c.6137A>G (p.Lys2046Arg) c.6008A>G (p.Lys2003Arg) c.5996A>G (p.Lys1999Arg) c.5969A>G (p.Lys1990Arg) n.6553A>G n.6527A>G c.6323A>G (p.Lys2108Arg) c.6317A>G (p.Lys2106Arg) c.6314A>G (p.Lys2105Arg) c.6209A>G (p.Lys2070Arg) c.6206A>G (p.Lys2069Arg) n.6312A>G n.6298A>G | |
| 11 | g.77211333A>T | CA381936368 | MYO7A | c.6233A>T (p.Lys2078Met) c.4034A>T c.6086A>T (p.Lys2029Met) c.3659A>T (p.Lys1220Met) c.6119A>T (p.Lys2040Met) n.3769A>T n.25+422A>T n.1700A>T c.6116A>T (p.Lys2039Met) c.6224A>T (p.Lys2075Met) c.6227A>T (p.Lys2076Met) c.6200A>T (p.Lys2067Met) c.6137A>T (p.Lys2046Met) c.6008A>T (p.Lys2003Met) c.5996A>T (p.Lys1999Met) c.5969A>T (p.Lys1990Met) n.6553A>T n.6527A>T c.6323A>T (p.Lys2108Met) c.6317A>T (p.Lys2106Met) c.6314A>T (p.Lys2105Met) c.6209A>T (p.Lys2070Met) c.6206A>T (p.Lys2069Met) n.6312A>T n.6298A>T | |
| 11 | g.77211334G>A | CA475792080 | MYO7A | c.6234G>A (p.Lys2078=) c.4035G>A c.6087G>A (p.Lys2029=) c.3660G>A (p.Lys1220=) c.6120G>A (p.Lys2040=) n.3770G>A n.25+423G>A n.1701G>A c.6117G>A (p.Lys2039=) c.6225G>A (p.Lys2075=) c.6228G>A (p.Lys2076=) c.6201G>A (p.Lys2067=) c.6138G>A (p.Lys2046=) c.6009G>A (p.Lys2003=) c.5997G>A (p.Lys1999=) c.5970G>A (p.Lys1990=) n.6554G>A n.6528G>A c.6324G>A (p.Lys2108=) c.6318G>A (p.Lys2106=) c.6315G>A (p.Lys2105=) c.6210G>A (p.Lys2070=) c.6207G>A (p.Lys2069=) n.6313G>A n.6299G>A | COSMIC |
| 11 | g.77211334G>C | CA381936373 | MYO7A | c.6234G>C (p.Lys2078Asn) c.4035G>C c.6087G>C (p.Lys2029Asn) c.3660G>C (p.Lys1220Asn) c.6120G>C (p.Lys2040Asn) n.3770G>C n.25+423G>C n.1701G>C c.6117G>C (p.Lys2039Asn) c.6225G>C (p.Lys2075Asn) c.6228G>C (p.Lys2076Asn) c.6201G>C (p.Lys2067Asn) c.6138G>C (p.Lys2046Asn) c.6009G>C (p.Lys2003Asn) c.5997G>C (p.Lys1999Asn) c.5970G>C (p.Lys1990Asn) n.6554G>C n.6528G>C c.6324G>C (p.Lys2108Asn) c.6318G>C (p.Lys2106Asn) c.6315G>C (p.Lys2105Asn) c.6210G>C (p.Lys2070Asn) c.6207G>C (p.Lys2069Asn) n.6313G>C n.6299G>C | |
| 11 | g.77211334G>T | CA381936375 | MYO7A | c.6234G>T (p.Lys2078Asn) c.4035G>T c.6087G>T (p.Lys2029Asn) c.3660G>T (p.Lys1220Asn) c.6120G>T (p.Lys2040Asn) n.3770G>T n.25+423G>T n.1701G>T c.6117G>T (p.Lys2039Asn) c.6225G>T (p.Lys2075Asn) c.6228G>T (p.Lys2076Asn) c.6201G>T (p.Lys2067Asn) c.6138G>T (p.Lys2046Asn) c.6009G>T (p.Lys2003Asn) c.5997G>T (p.Lys1999Asn) c.5970G>T (p.Lys1990Asn) n.6554G>T n.6528G>T c.6324G>T (p.Lys2108Asn) c.6318G>T (p.Lys2106Asn) c.6315G>T (p.Lys2105Asn) c.6210G>T (p.Lys2070Asn) c.6207G>T (p.Lys2069Asn) n.6313G>T n.6299G>T | gnomAD v4 |
| 11 | g.77211335del | CA645584046 | MYO7A | c.6235del (p.Arg2079GlyfsTer23) c.4036del c.6088del (p.Arg2030GlyfsTer23) c.3661del (p.Arg1221GlyfsTer23) c.6121del (p.Arg2041GlyfsTer23) n.3771del n.25+424del n.1702del c.6118del (p.Arg2040GlyfsTer23) c.6226del (p.Arg2076GlyfsTer23) c.6229del (p.Arg2077GlyfsTer23) c.6202del (p.Arg2068GlyfsTer23) c.6139del (p.Arg2047GlyfsTer23) c.6010del (p.Arg2004GlyfsTer23) c.5998del (p.Arg2000GlyfsTer23) c.5971del (p.Arg1991GlyfsTer23) n.6555del n.6529del c.6325del (p.Arg2109GlyfsTer23) c.6319del (p.Arg2107GlyfsTer23) c.6316del (p.Arg2106GlyfsTer23) c.6211del (p.Arg2071GlyfsTer23) c.6208del (p.Arg2070GlyfsTer23) n.6314del n.6300del | COSMIC |
| 11 | g.77211335C>A | CA475792081 | MYO7A | c.6235C>A (p.Arg2079=) c.4036C>A c.6088C>A (p.Arg2030=) c.3661C>A (p.Arg1221=) c.6121C>A (p.Arg2041=) n.3771C>A n.25+424C>A n.1702C>A c.6118C>A (p.Arg2040=) c.6226C>A (p.Arg2076=) c.6229C>A (p.Arg2077=) c.6202C>A (p.Arg2068=) c.6139C>A (p.Arg2047=) c.6010C>A (p.Arg2004=) c.5998C>A (p.Arg2000=) c.5971C>A (p.Arg1991=) n.6555C>A n.6529C>A c.6325C>A (p.Arg2109=) c.6319C>A (p.Arg2107=) c.6316C>A (p.Arg2106=) c.6211C>A (p.Arg2071=) c.6208C>A (p.Arg2070=) n.6314C>A n.6300C>A | dbSNP gnomAD v4 |
| 11 | g.77211335C= | CA1984129918 | MYO7A | c.6235C= (p.Arg2079=) c.4036C= c.6088C= (p.Arg2030=) c.3661C= (p.Arg1221=) c.6121C= (p.Arg2041=) n.3771C= n.25+424C= n.1702C= c.6118C= (p.Arg2040=) c.6226C= (p.Arg2076=) c.6229C= (p.Arg2077=) c.6202C= (p.Arg2068=) c.6139C= (p.Arg2047=) c.6010C= (p.Arg2004=) c.5998C= (p.Arg2000=) c.5971C= (p.Arg1991=) n.6555C= n.6529C= c.6325C= (p.Arg2109=) c.6319C= (p.Arg2107=) c.6316C= (p.Arg2106=) c.6211C= (p.Arg2071=) c.6208C= (p.Arg2070=) n.6314C= n.6300C= | |
| 11 | g.77211335C>G | CA381936377 | MYO7A | c.6235C>G (p.Arg2079Gly) c.4036C>G c.6088C>G (p.Arg2030Gly) c.3661C>G (p.Arg1221Gly) c.6121C>G (p.Arg2041Gly) n.3771C>G n.25+424C>G n.1702C>G c.6118C>G (p.Arg2040Gly) c.6226C>G (p.Arg2076Gly) c.6229C>G (p.Arg2077Gly) c.6202C>G (p.Arg2068Gly) c.6139C>G (p.Arg2047Gly) c.6010C>G (p.Arg2004Gly) c.5998C>G (p.Arg2000Gly) c.5971C>G (p.Arg1991Gly) n.6555C>G n.6529C>G c.6325C>G (p.Arg2109Gly) c.6319C>G (p.Arg2107Gly) c.6316C>G (p.Arg2106Gly) c.6211C>G (p.Arg2071Gly) c.6208C>G (p.Arg2070Gly) n.6314C>G n.6300C>G | |
| 11 | g.77211335C>T | CA6198956 | MYO7A | c.6235C>T (p.Arg2079Trp) c.4036C>T c.6088C>T (p.Arg2030Trp) c.3661C>T (p.Arg1221Trp) c.6121C>T (p.Arg2041Trp) n.3771C>T n.25+424C>T n.1702C>T c.6118C>T (p.Arg2040Trp) c.6226C>T (p.Arg2076Trp) c.6229C>T (p.Arg2077Trp) c.6202C>T (p.Arg2068Trp) c.6139C>T (p.Arg2047Trp) c.6010C>T (p.Arg2004Trp) c.5998C>T (p.Arg2000Trp) c.5971C>T (p.Arg1991Trp) n.6555C>T n.6529C>T c.6325C>T (p.Arg2109Trp) c.6319C>T (p.Arg2107Trp) c.6316C>T (p.Arg2106Trp) c.6211C>T (p.Arg2071Trp) c.6208C>T (p.Arg2070Trp) n.6314C>T n.6300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.77211336G>A | CA6198957 | MYO7A | c.6236G>A (p.Arg2079Gln) c.4037G>A c.6089G>A (p.Arg2030Gln) c.3662G>A (p.Arg1221Gln) c.6122G>A (p.Arg2041Gln) n.3772G>A n.25+425G>A n.1703G>A c.6119G>A (p.Arg2040Gln) c.6227G>A (p.Arg2076Gln) c.6230G>A (p.Arg2077Gln) c.6203G>A (p.Arg2068Gln) c.6140G>A (p.Arg2047Gln) c.6011G>A (p.Arg2004Gln) c.5999G>A (p.Arg2000Gln) c.5972G>A (p.Arg1991Gln) n.6556G>A n.6530G>A c.6326G>A (p.Arg2109Gln) c.6320G>A (p.Arg2107Gln) c.6317G>A (p.Arg2106Gln) c.6212G>A (p.Arg2071Gln) c.6209G>A (p.Arg2070Gln) n.6315G>A n.6301G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77211336G>C | CA381936382 | MYO7A | c.6236G>C (p.Arg2079Pro) c.4037G>C c.6089G>C (p.Arg2030Pro) c.3662G>C (p.Arg1221Pro) c.6122G>C (p.Arg2041Pro) n.3772G>C n.25+425G>C n.1703G>C c.6119G>C (p.Arg2040Pro) c.6227G>C (p.Arg2076Pro) c.6230G>C (p.Arg2077Pro) c.6203G>C (p.Arg2068Pro) c.6140G>C (p.Arg2047Pro) c.6011G>C (p.Arg2004Pro) c.5999G>C (p.Arg2000Pro) c.5972G>C (p.Arg1991Pro) n.6556G>C n.6530G>C c.6326G>C (p.Arg2109Pro) c.6320G>C (p.Arg2107Pro) c.6317G>C (p.Arg2106Pro) c.6212G>C (p.Arg2071Pro) c.6209G>C (p.Arg2070Pro) n.6315G>C n.6301G>C | |
| 11 | g.77211336G= | CA1984129919 | MYO7A | c.6236G= (p.Arg2079=) c.4037G= c.6089G= (p.Arg2030=) c.3662G= (p.Arg1221=) c.6122G= (p.Arg2041=) n.3772G= n.25+425G= n.1703G= c.6119G= (p.Arg2040=) c.6227G= (p.Arg2076=) c.6230G= (p.Arg2077=) c.6203G= (p.Arg2068=) c.6140G= (p.Arg2047=) c.6011G= (p.Arg2004=) c.5999G= (p.Arg2000=) c.5972G= (p.Arg1991=) n.6556G= n.6530G= c.6326G= (p.Arg2109=) c.6320G= (p.Arg2107=) c.6317G= (p.Arg2106=) c.6212G= (p.Arg2071=) c.6209G= (p.Arg2070=) n.6315G= n.6301G= | |
| 11 | g.77211336G>T | CA381936384 | MYO7A | c.6236G>T (p.Arg2079Leu) c.4037G>T c.6089G>T (p.Arg2030Leu) c.3662G>T (p.Arg1221Leu) c.6122G>T (p.Arg2041Leu) n.3772G>T n.25+425G>T n.1703G>T c.6119G>T (p.Arg2040Leu) c.6227G>T (p.Arg2076Leu) c.6230G>T (p.Arg2077Leu) c.6203G>T (p.Arg2068Leu) c.6140G>T (p.Arg2047Leu) c.6011G>T (p.Arg2004Leu) c.5999G>T (p.Arg2000Leu) c.5972G>T (p.Arg1991Leu) n.6556G>T n.6530G>T c.6326G>T (p.Arg2109Leu) c.6320G>T (p.Arg2107Leu) c.6317G>T (p.Arg2106Leu) c.6212G>T (p.Arg2071Leu) c.6209G>T (p.Arg2070Leu) n.6315G>T n.6301G>T | gnomAD v4 |
| 11 | g.77211341_77211351del | CA2615263287 | MYO7A | c.6237+4_6237+14del c.4038+4_4038+14del c.6090+4_6090+14del c.3663+4_3663+14del c.6123+4_6123+14del n.3773+4_3773+14del n.25+430_25+440del n.1704+4_1704+14del c.6120+4_6120+14del c.6228+4_6228+14del c.6231+4_6231+14del c.6204+4_6204+14del c.6141+4_6141+14del c.6012+4_6012+14del c.6000+4_6000+14del c.5973+4_5973+14del n.6557+4_6557+14del n.6531+4_6531+14del c.6327+4_6327+14del c.6321+4_6321+14del c.6318+4_6318+14del c.6213+4_6213+14del c.6210+4_6210+14del n.6316+4_6316+14del n.6302+4_6302+14del | gnomAD v4 |
| 11 | g.77211337G>A | CA475792086 | MYO7A | c.6237G>A (p.Arg2079=) c.4038G>A c.6090G>A (p.Arg2030=) c.3663G>A (p.Arg1221=) c.6123G>A (p.Arg2041=) n.3773G>A n.25+426G>A n.1704G>A c.6120G>A (p.Arg2040=) c.6228G>A (p.Arg2076=) c.6231G>A (p.Arg2077=) c.6204G>A (p.Arg2068=) c.6141G>A (p.Arg2047=) c.6012G>A (p.Arg2004=) c.6000G>A (p.Arg2000=) c.5973G>A (p.Arg1991=) n.6557G>A n.6531G>A c.6327G>A (p.Arg2109=) c.6321G>A (p.Arg2107=) c.6318G>A (p.Arg2106=) c.6213G>A (p.Arg2071=) c.6210G>A (p.Arg2070=) n.6316G>A n.6302G>A | gnomAD v4 |
| 11 | g.77211337G>C | CA475792084 | MYO7A | c.6237G>C (p.Arg2079=) c.4038G>C c.6090G>C (p.Arg2030=) c.3663G>C (p.Arg1221=) c.6123G>C (p.Arg2041=) n.3773G>C n.25+426G>C n.1704G>C c.6120G>C (p.Arg2040=) c.6228G>C (p.Arg2076=) c.6231G>C (p.Arg2077=) c.6204G>C (p.Arg2068=) c.6141G>C (p.Arg2047=) c.6012G>C (p.Arg2004=) c.6000G>C (p.Arg2000=) c.5973G>C (p.Arg1991=) n.6557G>C n.6531G>C c.6327G>C (p.Arg2109=) c.6321G>C (p.Arg2107=) c.6318G>C (p.Arg2106=) c.6213G>C (p.Arg2071=) c.6210G>C (p.Arg2070=) n.6316G>C n.6302G>C | |
| 11 | g.77211337G>T | CA475792085 | MYO7A | c.6237G>T (p.Arg2079=) c.4038G>T c.6090G>T (p.Arg2030=) c.3663G>T (p.Arg1221=) c.6123G>T (p.Arg2041=) n.3773G>T n.25+426G>T n.1704G>T c.6120G>T (p.Arg2040=) c.6228G>T (p.Arg2076=) c.6231G>T (p.Arg2077=) c.6204G>T (p.Arg2068=) c.6141G>T (p.Arg2047=) c.6012G>T (p.Arg2004=) c.6000G>T (p.Arg2000=) c.5973G>T (p.Arg1991=) n.6557G>T n.6531G>T c.6327G>T (p.Arg2109=) c.6321G>T (p.Arg2107=) c.6318G>T (p.Arg2106=) c.6213G>T (p.Arg2071=) c.6210G>T (p.Arg2070=) n.6316G>T n.6302G>T | gnomAD v4 |
| 11 | g.77211338G>A | CA381936385 | MYO7A | c.6237+1G>A (n.6237+1G>A) c.4038+1G>A c.6090+1G>A (n.6090+1G>A) c.3663+1G>A (n.3663+1G>A) c.6123+1G>A (n.6123+1G>A) n.3773+1G>A n.25+427G>A n.1704+1G>A c.6120+1G>A (n.6120+1G>A) c.6228+1G>A (n.6228+1G>A) c.6231+1G>A (n.6231+1G>A) c.6204+1G>A (n.6204+1G>A) c.6141+1G>A (n.6141+1G>A) c.6012+1G>A (n.6012+1G>A) c.6000+1G>A (n.6000+1G>A) c.5973+1G>A (n.5973+1G>A) n.6557+1G>A n.6531+1G>A c.6327+1G>A (n.6327+1G>A) c.6321+1G>A (n.6321+1G>A) c.6318+1G>A (n.6318+1G>A) c.6213+1G>A (n.6213+1G>A) c.6210+1G>A (n.6210+1G>A) n.6316+1G>A n.6302+1G>A | ClinVar dbSNP gnomAD v2 |
| 11 | g.77211338G>C | CA381936386 | MYO7A | c.6237+1G>C (n.6237+1G>C) c.4038+1G>C c.6090+1G>C (n.6090+1G>C) c.3663+1G>C (n.3663+1G>C) c.6123+1G>C (n.6123+1G>C) n.3773+1G>C n.25+427G>C n.1704+1G>C c.6120+1G>C (n.6120+1G>C) c.6228+1G>C (n.6228+1G>C) c.6231+1G>C (n.6231+1G>C) c.6204+1G>C (n.6204+1G>C) c.6141+1G>C (n.6141+1G>C) c.6012+1G>C (n.6012+1G>C) c.6000+1G>C (n.6000+1G>C) c.5973+1G>C (n.5973+1G>C) n.6557+1G>C n.6531+1G>C c.6327+1G>C (n.6327+1G>C) c.6321+1G>C (n.6321+1G>C) c.6318+1G>C (n.6318+1G>C) c.6213+1G>C (n.6213+1G>C) c.6210+1G>C (n.6210+1G>C) n.6316+1G>C n.6302+1G>C | |
| 11 | g.77211338G= | CA1984129920 | MYO7A | c.6237+1G= (n.6237+1G=) c.4038+1G= c.6090+1G= (n.6090+1G=) c.3663+1G= (n.3663+1G=) c.6123+1G= (n.6123+1G=) n.3773+1G= n.25+427G= n.1704+1G= c.6120+1G= (n.6120+1G=) c.6228+1G= (n.6228+1G=) c.6231+1G= (n.6231+1G=) c.6204+1G= (n.6204+1G=) c.6141+1G= (n.6141+1G=) c.6012+1G= (n.6012+1G=) c.6000+1G= (n.6000+1G=) c.5973+1G= (n.5973+1G=) n.6557+1G= n.6531+1G= c.6327+1G= (n.6327+1G=) c.6321+1G= (n.6321+1G=) c.6318+1G= (n.6318+1G=) c.6213+1G= (n.6213+1G=) c.6210+1G= (n.6210+1G=) n.6316+1G= n.6302+1G= | |
| 11 | g.77211338G>T | CA381936388 | MYO7A | c.6237+1G>T (n.6237+1G>T) c.4038+1G>T c.6090+1G>T (n.6090+1G>T) c.3663+1G>T (n.3663+1G>T) c.6123+1G>T (n.6123+1G>T) n.3773+1G>T n.25+427G>T n.1704+1G>T c.6120+1G>T (n.6120+1G>T) c.6228+1G>T (n.6228+1G>T) c.6231+1G>T (n.6231+1G>T) c.6204+1G>T (n.6204+1G>T) c.6141+1G>T (n.6141+1G>T) c.6012+1G>T (n.6012+1G>T) c.6000+1G>T (n.6000+1G>T) c.5973+1G>T (n.5973+1G>T) n.6557+1G>T n.6531+1G>T c.6327+1G>T (n.6327+1G>T) c.6321+1G>T (n.6321+1G>T) c.6318+1G>T (n.6318+1G>T) c.6213+1G>T (n.6213+1G>T) c.6210+1G>T (n.6210+1G>T) n.6316+1G>T n.6302+1G>T | gnomAD v4 |
| 11 | g.77211339T>A | CA381936393 | MYO7A | c.6237+2T>A (n.6237+2T>A) c.4038+2T>A c.6090+2T>A (n.6090+2T>A) c.3663+2T>A (n.3663+2T>A) c.6123+2T>A (n.6123+2T>A) n.3773+2T>A n.25+428T>A n.1704+2T>A c.6120+2T>A (n.6120+2T>A) c.6228+2T>A (n.6228+2T>A) c.6231+2T>A (n.6231+2T>A) c.6204+2T>A (n.6204+2T>A) c.6141+2T>A (n.6141+2T>A) c.6012+2T>A (n.6012+2T>A) c.6000+2T>A (n.6000+2T>A) c.5973+2T>A (n.5973+2T>A) n.6557+2T>A n.6531+2T>A c.6327+2T>A (n.6327+2T>A) c.6321+2T>A (n.6321+2T>A) c.6318+2T>A (n.6318+2T>A) c.6213+2T>A (n.6213+2T>A) c.6210+2T>A (n.6210+2T>A) n.6316+2T>A n.6302+2T>A | gnomAD v4 |