Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178539881G>ACA430240816TTN,TTN-AS1c.90480C>T (p.Ile30160=)
c.71565C>T (p.Ile23855=)
c.71364C>T (p.Ile23788=)
c.70989C>T (p.Ile23663=)
c.98184C>T (p.Ile32728=)
c.93261C>T (p.Ile31087=)
n.446+16245G>A
n.1831G>A
c.97281C>T (p.Ile32427=)
c.71175C>T (p.Ile23725=)
c.71034C>T (p.Ile23678=)
c.97077C>T (p.Ile32359=)
c.92475C>T (p.Ile30825=)
c.92472C>T (p.Ile30824=)
c.89514C>T (p.Ile29838=)
c.71130C>T (p.Ile23710=)
c.92625C>T (p.Ile30875=)
c.92622C>T (p.Ile30874=)
c.92055C>T (p.Ile30685=)
c.89397C>T (p.Ile29799=)
c.89316C>T (p.Ile29772=)
c.71079C>T (p.Ile23693=)
c.60933C>T (p.Ile20311=)
2g.178539881G>CCA349433439TTN,TTN-AS1c.90480C>G (p.Ile30160Met)
c.71565C>G (p.Ile23855Met)
c.71364C>G (p.Ile23788Met)
c.70989C>G (p.Ile23663Met)
c.98184C>G (p.Ile32728Met)
c.93261C>G (p.Ile31087Met)
n.446+16245G>C
n.1831G>C
c.97281C>G (p.Ile32427Met)
c.71175C>G (p.Ile23725Met)
c.71034C>G (p.Ile23678Met)
c.97077C>G (p.Ile32359Met)
c.92475C>G (p.Ile30825Met)
c.92472C>G (p.Ile30824Met)
c.89514C>G (p.Ile29838Met)
c.71130C>G (p.Ile23710Met)
c.92625C>G (p.Ile30875Met)
c.92622C>G (p.Ile30874Met)
c.92055C>G (p.Ile30685Met)
c.89397C>G (p.Ile29799Met)
c.89316C>G (p.Ile29772Met)
c.71079C>G (p.Ile23693Met)
c.60933C>G (p.Ile20311Met)
2g.178539881G>TCA430240812TTN,TTN-AS1c.90480C>A (p.Ile30160=)
c.71565C>A (p.Ile23855=)
c.71364C>A (p.Ile23788=)
c.70989C>A (p.Ile23663=)
c.98184C>A (p.Ile32728=)
c.93261C>A (p.Ile31087=)
n.446+16245G>T
n.1831G>T
c.97281C>A (p.Ile32427=)
c.71175C>A (p.Ile23725=)
c.71034C>A (p.Ile23678=)
c.97077C>A (p.Ile32359=)
c.92475C>A (p.Ile30825=)
c.92472C>A (p.Ile30824=)
c.89514C>A (p.Ile29838=)
c.71130C>A (p.Ile23710=)
c.92625C>A (p.Ile30875=)
c.92622C>A (p.Ile30874=)
c.92055C>A (p.Ile30685=)
c.89397C>A (p.Ile29799=)
c.89316C>A (p.Ile29772=)
c.71079C>A (p.Ile23693=)
c.60933C>A (p.Ile20311=)
2g.178539882A=CA1310516524TTN,TTN-AS1c.90479T= (p.Ile30160=)
c.71564T= (p.Ile23855=)
c.71363T= (p.Ile23788=)
c.70988T= (p.Ile23663=)
c.98183T= (p.Ile32728=)
c.93260T= (p.Ile31087=)
n.446+16246A=
n.1832A=
c.97280T= (p.Ile32427=)
c.71174T= (p.Ile23725=)
c.71033T= (p.Ile23678=)
c.97076T= (p.Ile32359=)
c.92474T= (p.Ile30825=)
c.92471T= (p.Ile30824=)
c.89513T= (p.Ile29838=)
c.71129T= (p.Ile23710=)
c.92624T= (p.Ile30875=)
c.92621T= (p.Ile30874=)
c.92054T= (p.Ile30685=)
c.89396T= (p.Ile29799=)
c.89315T= (p.Ile29772=)
c.71078T= (p.Ile23693=)
c.60932T= (p.Ile20311=)
2g.178539882A>CCA349433441TTN,TTN-AS1c.90479T>G (p.Ile30160Ser)
c.71564T>G (p.Ile23855Ser)
c.71363T>G (p.Ile23788Ser)
c.70988T>G (p.Ile23663Ser)
c.98183T>G (p.Ile32728Ser)
c.93260T>G (p.Ile31087Ser)
n.446+16246A>C
n.1832A>C
c.97280T>G (p.Ile32427Ser)
c.71174T>G (p.Ile23725Ser)
c.71033T>G (p.Ile23678Ser)
c.97076T>G (p.Ile32359Ser)
c.92474T>G (p.Ile30825Ser)
c.92471T>G (p.Ile30824Ser)
c.89513T>G (p.Ile29838Ser)
c.71129T>G (p.Ile23710Ser)
c.92624T>G (p.Ile30875Ser)
c.92621T>G (p.Ile30874Ser)
c.92054T>G (p.Ile30685Ser)
c.89396T>G (p.Ile29799Ser)
c.89315T>G (p.Ile29772Ser)
c.71078T>G (p.Ile23693Ser)
c.60932T>G (p.Ile20311Ser)
2g.178539882A>GCA349433443TTN,TTN-AS1c.90479T>C (p.Ile30160Thr)
c.71564T>C (p.Ile23855Thr)
c.71363T>C (p.Ile23788Thr)
c.70988T>C (p.Ile23663Thr)
c.98183T>C (p.Ile32728Thr)
c.93260T>C (p.Ile31087Thr)
n.446+16246A>G
n.1832A>G
c.97280T>C (p.Ile32427Thr)
c.71174T>C (p.Ile23725Thr)
c.71033T>C (p.Ile23678Thr)
c.97076T>C (p.Ile32359Thr)
c.92474T>C (p.Ile30825Thr)
c.92471T>C (p.Ile30824Thr)
c.89513T>C (p.Ile29838Thr)
c.71129T>C (p.Ile23710Thr)
c.92624T>C (p.Ile30875Thr)
c.92621T>C (p.Ile30874Thr)
c.92054T>C (p.Ile30685Thr)
c.89396T>C (p.Ile29799Thr)
c.89315T>C (p.Ile29772Thr)
c.71078T>C (p.Ile23693Thr)
c.60932T>C (p.Ile20311Thr)
2g.178539882A>TCA1986414TTN,TTN-AS1c.90479T>A (p.Ile30160Asn)
c.71564T>A (p.Ile23855Asn)
c.71363T>A (p.Ile23788Asn)
c.70988T>A (p.Ile23663Asn)
c.98183T>A (p.Ile32728Asn)
c.93260T>A (p.Ile31087Asn)
n.446+16246A>T
n.1832A>T
c.97280T>A (p.Ile32427Asn)
c.71174T>A (p.Ile23725Asn)
c.71033T>A (p.Ile23678Asn)
c.97076T>A (p.Ile32359Asn)
c.92474T>A (p.Ile30825Asn)
c.92471T>A (p.Ile30824Asn)
c.89513T>A (p.Ile29838Asn)
c.71129T>A (p.Ile23710Asn)
c.92624T>A (p.Ile30875Asn)
c.92621T>A (p.Ile30874Asn)
c.92054T>A (p.Ile30685Asn)
c.89396T>A (p.Ile29799Asn)
c.89315T>A (p.Ile29772Asn)
c.71078T>A (p.Ile23693Asn)
c.60932T>A (p.Ile20311Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178539883T>ACA349433445TTN,TTN-AS1c.90478A>T (p.Ile30160Phe)
c.71563A>T (p.Ile23855Phe)
c.71362A>T (p.Ile23788Phe)
c.70987A>T (p.Ile23663Phe)
c.98182A>T (p.Ile32728Phe)
c.93259A>T (p.Ile31087Phe)
n.446+16247T>A
n.1833T>A
c.97279A>T (p.Ile32427Phe)
c.71173A>T (p.Ile23725Phe)
c.71032A>T (p.Ile23678Phe)
c.97075A>T (p.Ile32359Phe)
c.92473A>T (p.Ile30825Phe)
c.92470A>T (p.Ile30824Phe)
c.89512A>T (p.Ile29838Phe)
c.71128A>T (p.Ile23710Phe)
c.92623A>T (p.Ile30875Phe)
c.92620A>T (p.Ile30874Phe)
c.92053A>T (p.Ile30685Phe)
c.89395A>T (p.Ile29799Phe)
c.89314A>T (p.Ile29772Phe)
c.71077A>T (p.Ile23693Phe)
c.60931A>T (p.Ile20311Phe)
2g.178539883T>CCA349433447TTN,TTN-AS1c.90478A>G (p.Ile30160Val)
c.71563A>G (p.Ile23855Val)
c.71362A>G (p.Ile23788Val)
c.70987A>G (p.Ile23663Val)
c.98182A>G (p.Ile32728Val)
c.93259A>G (p.Ile31087Val)
n.446+16247T>C
n.1833T>C
c.97279A>G (p.Ile32427Val)
c.71173A>G (p.Ile23725Val)
c.71032A>G (p.Ile23678Val)
c.97075A>G (p.Ile32359Val)
c.92473A>G (p.Ile30825Val)
c.92470A>G (p.Ile30824Val)
c.89512A>G (p.Ile29838Val)
c.71128A>G (p.Ile23710Val)
c.92623A>G (p.Ile30875Val)
c.92620A>G (p.Ile30874Val)
c.92053A>G (p.Ile30685Val)
c.89395A>G (p.Ile29799Val)
c.89314A>G (p.Ile29772Val)
c.71077A>G (p.Ile23693Val)
c.60931A>G (p.Ile20311Val)
 gnomAD v4
2g.178539883T>GCA349433446TTN,TTN-AS1c.90478A>C (p.Ile30160Leu)
c.71563A>C (p.Ile23855Leu)
c.71362A>C (p.Ile23788Leu)
c.70987A>C (p.Ile23663Leu)
c.98182A>C (p.Ile32728Leu)
c.93259A>C (p.Ile31087Leu)
n.446+16247T>G
n.1833T>G
c.97279A>C (p.Ile32427Leu)
c.71173A>C (p.Ile23725Leu)
c.71032A>C (p.Ile23678Leu)
c.97075A>C (p.Ile32359Leu)
c.92473A>C (p.Ile30825Leu)
c.92470A>C (p.Ile30824Leu)
c.89512A>C (p.Ile29838Leu)
c.71128A>C (p.Ile23710Leu)
c.92623A>C (p.Ile30875Leu)
c.92620A>C (p.Ile30874Leu)
c.92053A>C (p.Ile30685Leu)
c.89395A>C (p.Ile29799Leu)
c.89314A>C (p.Ile29772Leu)
c.71077A>C (p.Ile23693Leu)
c.60931A>C (p.Ile20311Leu)
2g.178539884T>ACA430240822TTN,TTN-AS1c.90477A>T (p.Pro30159=)
c.71562A>T (p.Pro23854=)
c.71361A>T (p.Pro23787=)
c.70986A>T (p.Pro23662=)
c.98181A>T (p.Pro32727=)
c.93258A>T (p.Pro31086=)
n.446+16248T>A
n.1834T>A
c.97278A>T (p.Pro32426=)
c.71172A>T (p.Pro23724=)
c.71031A>T (p.Pro23677=)
c.97074A>T (p.Pro32358=)
c.92472A>T (p.Pro30824=)
c.92469A>T (p.Pro30823=)
c.89511A>T (p.Pro29837=)
c.71127A>T (p.Pro23709=)
c.92622A>T (p.Pro30874=)
c.92619A>T (p.Pro30873=)
c.92052A>T (p.Pro30684=)
c.89394A>T (p.Pro29798=)
c.89313A>T (p.Pro29771=)
c.71076A>T (p.Pro23692=)
c.60930A>T (p.Pro20310=)
2g.178539884T>CCA430240823TTN,TTN-AS1c.90477A>G (p.Pro30159=)
c.71562A>G (p.Pro23854=)
c.71361A>G (p.Pro23787=)
c.70986A>G (p.Pro23662=)
c.98181A>G (p.Pro32727=)
c.93258A>G (p.Pro31086=)
n.446+16248T>C
n.1834T>C
c.97278A>G (p.Pro32426=)
c.71172A>G (p.Pro23724=)
c.71031A>G (p.Pro23677=)
c.97074A>G (p.Pro32358=)
c.92472A>G (p.Pro30824=)
c.92469A>G (p.Pro30823=)
c.89511A>G (p.Pro29837=)
c.71127A>G (p.Pro23709=)
c.92622A>G (p.Pro30874=)
c.92619A>G (p.Pro30873=)
c.92052A>G (p.Pro30684=)
c.89394A>G (p.Pro29798=)
c.89313A>G (p.Pro29771=)
c.71076A>G (p.Pro23692=)
c.60930A>G (p.Pro20310=)
2g.178539884T>GCA430240824TTN,TTN-AS1c.90477A>C (p.Pro30159=)
c.71562A>C (p.Pro23854=)
c.71361A>C (p.Pro23787=)
c.70986A>C (p.Pro23662=)
c.98181A>C (p.Pro32727=)
c.93258A>C (p.Pro31086=)
n.446+16248T>G
n.1834T>G
c.97278A>C (p.Pro32426=)
c.71172A>C (p.Pro23724=)
c.71031A>C (p.Pro23677=)
c.97074A>C (p.Pro32358=)
c.92472A>C (p.Pro30824=)
c.92469A>C (p.Pro30823=)
c.89511A>C (p.Pro29837=)
c.71127A>C (p.Pro23709=)
c.92622A>C (p.Pro30874=)
c.92619A>C (p.Pro30873=)
c.92052A>C (p.Pro30684=)
c.89394A>C (p.Pro29798=)
c.89313A>C (p.Pro29771=)
c.71076A>C (p.Pro23692=)
c.60930A>C (p.Pro20310=)
2g.178539885G>ACA349433449TTN,TTN-AS1c.90476C>T (p.Pro30159Leu)
c.71561C>T (p.Pro23854Leu)
c.71360C>T (p.Pro23787Leu)
c.70985C>T (p.Pro23662Leu)
c.98180C>T (p.Pro32727Leu)
c.93257C>T (p.Pro31086Leu)
n.446+16249G>A
n.1835G>A
c.97277C>T (p.Pro32426Leu)
c.71171C>T (p.Pro23724Leu)
c.71030C>T (p.Pro23677Leu)
c.97073C>T (p.Pro32358Leu)
c.92471C>T (p.Pro30824Leu)
c.92468C>T (p.Pro30823Leu)
c.89510C>T (p.Pro29837Leu)
c.71126C>T (p.Pro23709Leu)
c.92621C>T (p.Pro30874Leu)
c.92618C>T (p.Pro30873Leu)
c.92051C>T (p.Pro30684Leu)
c.89393C>T (p.Pro29798Leu)
c.89312C>T (p.Pro29771Leu)
c.71075C>T (p.Pro23692Leu)
c.60929C>T (p.Pro20310Leu)
2g.178539885G>CCA349433450TTN,TTN-AS1c.90476C>G (p.Pro30159Arg)
c.71561C>G (p.Pro23854Arg)
c.71360C>G (p.Pro23787Arg)
c.70985C>G (p.Pro23662Arg)
c.98180C>G (p.Pro32727Arg)
c.93257C>G (p.Pro31086Arg)
n.446+16249G>C
n.1835G>C
c.97277C>G (p.Pro32426Arg)
c.71171C>G (p.Pro23724Arg)
c.71030C>G (p.Pro23677Arg)
c.97073C>G (p.Pro32358Arg)
c.92471C>G (p.Pro30824Arg)
c.92468C>G (p.Pro30823Arg)
c.89510C>G (p.Pro29837Arg)
c.71126C>G (p.Pro23709Arg)
c.92621C>G (p.Pro30874Arg)
c.92618C>G (p.Pro30873Arg)
c.92051C>G (p.Pro30684Arg)
c.89393C>G (p.Pro29798Arg)
c.89312C>G (p.Pro29771Arg)
c.71075C>G (p.Pro23692Arg)
c.60929C>G (p.Pro20310Arg)
2g.178539885G>TCA349433451TTN,TTN-AS1c.90476C>A (p.Pro30159Gln)
c.71561C>A (p.Pro23854Gln)
c.71360C>A (p.Pro23787Gln)
c.70985C>A (p.Pro23662Gln)
c.98180C>A (p.Pro32727Gln)
c.93257C>A (p.Pro31086Gln)
n.446+16249G>T
n.1835G>T
c.97277C>A (p.Pro32426Gln)
c.71171C>A (p.Pro23724Gln)
c.71030C>A (p.Pro23677Gln)
c.97073C>A (p.Pro32358Gln)
c.92471C>A (p.Pro30824Gln)
c.92468C>A (p.Pro30823Gln)
c.89510C>A (p.Pro29837Gln)
c.71126C>A (p.Pro23709Gln)
c.92621C>A (p.Pro30874Gln)
c.92618C>A (p.Pro30873Gln)
c.92051C>A (p.Pro30684Gln)
c.89393C>A (p.Pro29798Gln)
c.89312C>A (p.Pro29771Gln)
c.71075C>A (p.Pro23692Gln)
c.60929C>A (p.Pro20310Gln)
2g.178539886G>ACA349433453TTN,TTN-AS1c.90475C>T (p.Pro30159Ser)
c.71560C>T (p.Pro23854Ser)
c.71359C>T (p.Pro23787Ser)
c.70984C>T (p.Pro23662Ser)
c.98179C>T (p.Pro32727Ser)
c.93256C>T (p.Pro31086Ser)
n.446+16250G>A
n.1836G>A
c.97276C>T (p.Pro32426Ser)
c.71170C>T (p.Pro23724Ser)
c.71029C>T (p.Pro23677Ser)
c.97072C>T (p.Pro32358Ser)
c.92470C>T (p.Pro30824Ser)
c.92467C>T (p.Pro30823Ser)
c.89509C>T (p.Pro29837Ser)
c.71125C>T (p.Pro23709Ser)
c.92620C>T (p.Pro30874Ser)
c.92617C>T (p.Pro30873Ser)
c.92050C>T (p.Pro30684Ser)
c.89392C>T (p.Pro29798Ser)
c.89311C>T (p.Pro29771Ser)
c.71074C>T (p.Pro23692Ser)
c.60928C>T (p.Pro20310Ser)
 gnomAD v4
2g.178539886G>CCA349433455TTN,TTN-AS1c.90475C>G (p.Pro30159Ala)
c.71560C>G (p.Pro23854Ala)
c.71359C>G (p.Pro23787Ala)
c.70984C>G (p.Pro23662Ala)
c.98179C>G (p.Pro32727Ala)
c.93256C>G (p.Pro31086Ala)
n.446+16250G>C
n.1836G>C
c.97276C>G (p.Pro32426Ala)
c.71170C>G (p.Pro23724Ala)
c.71029C>G (p.Pro23677Ala)
c.97072C>G (p.Pro32358Ala)
c.92470C>G (p.Pro30824Ala)
c.92467C>G (p.Pro30823Ala)
c.89509C>G (p.Pro29837Ala)
c.71125C>G (p.Pro23709Ala)
c.92620C>G (p.Pro30874Ala)
c.92617C>G (p.Pro30873Ala)
c.92050C>G (p.Pro30684Ala)
c.89392C>G (p.Pro29798Ala)
c.89311C>G (p.Pro29771Ala)
c.71074C>G (p.Pro23692Ala)
c.60928C>G (p.Pro20310Ala)
2g.178539886G=CA1310516525TTN,TTN-AS1c.90475C= (p.Pro30159=)
c.71560C= (p.Pro23854=)
c.71359C= (p.Pro23787=)
c.70984C= (p.Pro23662=)
c.98179C= (p.Pro32727=)
c.93256C= (p.Pro31086=)
n.446+16250G=
n.1836G=
c.97276C= (p.Pro32426=)
c.71170C= (p.Pro23724=)
c.71029C= (p.Pro23677=)
c.97072C= (p.Pro32358=)
c.92470C= (p.Pro30824=)
c.92467C= (p.Pro30823=)
c.89509C= (p.Pro29837=)
c.71125C= (p.Pro23709=)
c.92620C= (p.Pro30874=)
c.92617C= (p.Pro30873=)
c.92050C= (p.Pro30684=)
c.89392C= (p.Pro29798=)
c.89311C= (p.Pro29771=)
c.71074C= (p.Pro23692=)
c.60928C= (p.Pro20310=)
2g.178539886G>TCA349433456TTN,TTN-AS1c.90475C>A (p.Pro30159Thr)
c.71560C>A (p.Pro23854Thr)
c.71359C>A (p.Pro23787Thr)
c.70984C>A (p.Pro23662Thr)
c.98179C>A (p.Pro32727Thr)
c.93256C>A (p.Pro31086Thr)
n.446+16250G>T
n.1836G>T
c.97276C>A (p.Pro32426Thr)
c.71170C>A (p.Pro23724Thr)
c.71029C>A (p.Pro23677Thr)
c.97072C>A (p.Pro32358Thr)
c.92470C>A (p.Pro30824Thr)
c.92467C>A (p.Pro30823Thr)
c.89509C>A (p.Pro29837Thr)
c.71125C>A (p.Pro23709Thr)
c.92620C>A (p.Pro30874Thr)
c.92617C>A (p.Pro30873Thr)
c.92050C>A (p.Pro30684Thr)
c.89392C>A (p.Pro29798Thr)
c.89311C>A (p.Pro29771Thr)
c.71074C>A (p.Pro23692Thr)
c.60928C>A (p.Pro20310Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178539887T>ACA430240833TTN,TTN-AS1c.90474A>T (p.Ile30158=)
c.71559A>T (p.Ile23853=)
c.71358A>T (p.Ile23786=)
c.70983A>T (p.Ile23661=)
c.98178A>T (p.Ile32726=)
c.93255A>T (p.Ile31085=)
n.446+16251T>A
n.1837T>A
c.97275A>T (p.Ile32425=)
c.71169A>T (p.Ile23723=)
c.71028A>T (p.Ile23676=)
c.97071A>T (p.Ile32357=)
c.92469A>T (p.Ile30823=)
c.92466A>T (p.Ile30822=)
c.89508A>T (p.Ile29836=)
c.71124A>T (p.Ile23708=)
c.92619A>T (p.Ile30873=)
c.92616A>T (p.Ile30872=)
c.92049A>T (p.Ile30683=)
c.89391A>T (p.Ile29797=)
c.89310A>T (p.Ile29770=)
c.71073A>T (p.Ile23691=)
c.60927A>T (p.Ile20309=)
2g.178539887T>CCA1986415TTN,TTN-AS1c.90474A>G (p.Ile30158Met)
c.71559A>G (p.Ile23853Met)
c.71358A>G (p.Ile23786Met)
c.70983A>G (p.Ile23661Met)
c.98178A>G (p.Ile32726Met)
c.93255A>G (p.Ile31085Met)
n.446+16251T>C
n.1837T>C
c.97275A>G (p.Ile32425Met)
c.71169A>G (p.Ile23723Met)
c.71028A>G (p.Ile23676Met)
c.97071A>G (p.Ile32357Met)
c.92469A>G (p.Ile30823Met)
c.92466A>G (p.Ile30822Met)
c.89508A>G (p.Ile29836Met)
c.71124A>G (p.Ile23708Met)
c.92619A>G (p.Ile30873Met)
c.92616A>G (p.Ile30872Met)
c.92049A>G (p.Ile30683Met)
c.89391A>G (p.Ile29797Met)
c.89310A>G (p.Ile29770Met)
c.71073A>G (p.Ile23691Met)
c.60927A>G (p.Ile20309Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178539887T>GCA430240830TTN,TTN-AS1c.90474A>C (p.Ile30158=)
c.71559A>C (p.Ile23853=)
c.71358A>C (p.Ile23786=)
c.70983A>C (p.Ile23661=)
c.98178A>C (p.Ile32726=)
c.93255A>C (p.Ile31085=)
n.446+16251T>G
n.1837T>G
c.97275A>C (p.Ile32425=)
c.71169A>C (p.Ile23723=)
c.71028A>C (p.Ile23676=)
c.97071A>C (p.Ile32357=)
c.92469A>C (p.Ile30823=)
c.92466A>C (p.Ile30822=)
c.89508A>C (p.Ile29836=)
c.71124A>C (p.Ile23708=)
c.92619A>C (p.Ile30873=)
c.92616A>C (p.Ile30872=)
c.92049A>C (p.Ile30683=)
c.89391A>C (p.Ile29797=)
c.89310A>C (p.Ile29770=)
c.71073A>C (p.Ile23691=)
c.60927A>C (p.Ile20309=)
2g.178539887T=CA1310516526TTN,TTN-AS1c.90474A= (p.Ile30158=)
c.71559A= (p.Ile23853=)
c.71358A= (p.Ile23786=)
c.70983A= (p.Ile23661=)
c.98178A= (p.Ile32726=)
c.93255A= (p.Ile31085=)
n.446+16251T=
n.1837T=
c.97275A= (p.Ile32425=)
c.71169A= (p.Ile23723=)
c.71028A= (p.Ile23676=)
c.97071A= (p.Ile32357=)
c.92469A= (p.Ile30823=)
c.92466A= (p.Ile30822=)
c.89508A= (p.Ile29836=)
c.71124A= (p.Ile23708=)
c.92619A= (p.Ile30873=)
c.92616A= (p.Ile30872=)
c.92049A= (p.Ile30683=)
c.89391A= (p.Ile29797=)
c.89310A= (p.Ile29770=)
c.71073A= (p.Ile23691=)
c.60927A= (p.Ile20309=)
2g.178539888A=CA1310516527TTN,TTN-AS1c.90473T= (p.Ile30158=)
c.71558T= (p.Ile23853=)
c.71357T= (p.Ile23786=)
c.70982T= (p.Ile23661=)
c.98177T= (p.Ile32726=)
c.93254T= (p.Ile31085=)
n.446+16252A=
n.1838A=
c.97274T= (p.Ile32425=)
c.71168T= (p.Ile23723=)
c.71027T= (p.Ile23676=)
c.97070T= (p.Ile32357=)
c.92468T= (p.Ile30823=)
c.92465T= (p.Ile30822=)
c.89507T= (p.Ile29836=)
c.71123T= (p.Ile23708=)
c.92618T= (p.Ile30873=)
c.92615T= (p.Ile30872=)
c.92048T= (p.Ile30683=)
c.89390T= (p.Ile29797=)
c.89309T= (p.Ile29770=)
c.71072T= (p.Ile23691=)
c.60926T= (p.Ile20309=)
2g.178539888A>CCA349433458TTN,TTN-AS1c.90473T>G (p.Ile30158Arg)
c.71558T>G (p.Ile23853Arg)
c.71357T>G (p.Ile23786Arg)
c.70982T>G (p.Ile23661Arg)
c.98177T>G (p.Ile32726Arg)
c.93254T>G (p.Ile31085Arg)
n.446+16252A>C
n.1838A>C
c.97274T>G (p.Ile32425Arg)
c.71168T>G (p.Ile23723Arg)
c.71027T>G (p.Ile23676Arg)
c.97070T>G (p.Ile32357Arg)
c.92468T>G (p.Ile30823Arg)
c.92465T>G (p.Ile30822Arg)
c.89507T>G (p.Ile29836Arg)
c.71123T>G (p.Ile23708Arg)
c.92618T>G (p.Ile30873Arg)
c.92615T>G (p.Ile30872Arg)
c.92048T>G (p.Ile30683Arg)
c.89390T>G (p.Ile29797Arg)
c.89309T>G (p.Ile29770Arg)
c.71072T>G (p.Ile23691Arg)
c.60926T>G (p.Ile20309Arg)
2g.178539888A>GCA1986416TTN,TTN-AS1c.90473T>C (p.Ile30158Thr)
c.71558T>C (p.Ile23853Thr)
c.71357T>C (p.Ile23786Thr)
c.70982T>C (p.Ile23661Thr)
c.98177T>C (p.Ile32726Thr)
c.93254T>C (p.Ile31085Thr)
n.446+16252A>G
n.1838A>G
c.97274T>C (p.Ile32425Thr)
c.71168T>C (p.Ile23723Thr)
c.71027T>C (p.Ile23676Thr)
c.97070T>C (p.Ile32357Thr)
c.92468T>C (p.Ile30823Thr)
c.92465T>C (p.Ile30822Thr)
c.89507T>C (p.Ile29836Thr)
c.71123T>C (p.Ile23708Thr)
c.92618T>C (p.Ile30873Thr)
c.92615T>C (p.Ile30872Thr)
c.92048T>C (p.Ile30683Thr)
c.89390T>C (p.Ile29797Thr)
c.89309T>C (p.Ile29770Thr)
c.71072T>C (p.Ile23691Thr)
c.60926T>C (p.Ile20309Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178539888A>TCA349433461TTN,TTN-AS1c.90473T>A (p.Ile30158Lys)
c.71558T>A (p.Ile23853Lys)
c.71357T>A (p.Ile23786Lys)
c.70982T>A (p.Ile23661Lys)
c.98177T>A (p.Ile32726Lys)
c.93254T>A (p.Ile31085Lys)
n.446+16252A>T
n.1838A>T
c.97274T>A (p.Ile32425Lys)
c.71168T>A (p.Ile23723Lys)
c.71027T>A (p.Ile23676Lys)
c.97070T>A (p.Ile32357Lys)
c.92468T>A (p.Ile30823Lys)
c.92465T>A (p.Ile30822Lys)
c.89507T>A (p.Ile29836Lys)
c.71123T>A (p.Ile23708Lys)
c.92618T>A (p.Ile30873Lys)
c.92615T>A (p.Ile30872Lys)
c.92048T>A (p.Ile30683Lys)
c.89390T>A (p.Ile29797Lys)
c.89309T>A (p.Ile29770Lys)
c.71072T>A (p.Ile23691Lys)
c.60926T>A (p.Ile20309Lys)
2g.178539889T>ACA349433464TTN,TTN-AS1c.90472A>T (p.Ile30158Leu)
c.71557A>T (p.Ile23853Leu)
c.71356A>T (p.Ile23786Leu)
c.70981A>T (p.Ile23661Leu)
c.98176A>T (p.Ile32726Leu)
c.93253A>T (p.Ile31085Leu)
n.446+16253T>A
n.1839T>A
c.97273A>T (p.Ile32425Leu)
c.71167A>T (p.Ile23723Leu)
c.71026A>T (p.Ile23676Leu)
c.97069A>T (p.Ile32357Leu)
c.92467A>T (p.Ile30823Leu)
c.92464A>T (p.Ile30822Leu)
c.89506A>T (p.Ile29836Leu)
c.71122A>T (p.Ile23708Leu)
c.92617A>T (p.Ile30873Leu)
c.92614A>T (p.Ile30872Leu)
c.92047A>T (p.Ile30683Leu)
c.89389A>T (p.Ile29797Leu)
c.89308A>T (p.Ile29770Leu)
c.71071A>T (p.Ile23691Leu)
c.60925A>T (p.Ile20309Leu)
2g.178539889T>CCA349433467TTN,TTN-AS1c.90472A>G (p.Ile30158Val)
c.71557A>G (p.Ile23853Val)
c.71356A>G (p.Ile23786Val)
c.70981A>G (p.Ile23661Val)
c.98176A>G (p.Ile32726Val)
c.93253A>G (p.Ile31085Val)
n.446+16253T>C
n.1839T>C
c.97273A>G (p.Ile32425Val)
c.71167A>G (p.Ile23723Val)
c.71026A>G (p.Ile23676Val)
c.97069A>G (p.Ile32357Val)
c.92467A>G (p.Ile30823Val)
c.92464A>G (p.Ile30822Val)
c.89506A>G (p.Ile29836Val)
c.71122A>G (p.Ile23708Val)
c.92617A>G (p.Ile30873Val)
c.92614A>G (p.Ile30872Val)
c.92047A>G (p.Ile30683Val)
c.89389A>G (p.Ile29797Val)
c.89308A>G (p.Ile29770Val)
c.71071A>G (p.Ile23691Val)
c.60925A>G (p.Ile20309Val)
 gnomAD v4
2g.178539889T>GCA349433468TTN,TTN-AS1c.90472A>C (p.Ile30158Leu)
c.71557A>C (p.Ile23853Leu)
c.71356A>C (p.Ile23786Leu)
c.70981A>C (p.Ile23661Leu)
c.98176A>C (p.Ile32726Leu)
c.93253A>C (p.Ile31085Leu)
n.446+16253T>G
n.1839T>G
c.97273A>C (p.Ile32425Leu)
c.71167A>C (p.Ile23723Leu)
c.71026A>C (p.Ile23676Leu)
c.97069A>C (p.Ile32357Leu)
c.92467A>C (p.Ile30823Leu)
c.92464A>C (p.Ile30822Leu)
c.89506A>C (p.Ile29836Leu)
c.71122A>C (p.Ile23708Leu)
c.92617A>C (p.Ile30873Leu)
c.92614A>C (p.Ile30872Leu)
c.92047A>C (p.Ile30683Leu)
c.89389A>C (p.Ile29797Leu)
c.89308A>C (p.Ile29770Leu)
c.71071A>C (p.Ile23691Leu)
c.60925A>C (p.Ile20309Leu)
2g.178539890G>ACA430240840TTN,TTN-AS1c.90471C>T (p.Thr30157=)
c.71556C>T (p.Thr23852=)
c.71355C>T (p.Thr23785=)
c.70980C>T (p.Thr23660=)
c.98175C>T (p.Thr32725=)
c.93252C>T (p.Thr31084=)
n.446+16254G>A
n.1840G>A
c.97272C>T (p.Thr32424=)
c.71166C>T (p.Thr23722=)
c.71025C>T (p.Thr23675=)
c.97068C>T (p.Thr32356=)
c.92466C>T (p.Thr30822=)
c.92463C>T (p.Thr30821=)
c.89505C>T (p.Thr29835=)
c.71121C>T (p.Thr23707=)
c.92616C>T (p.Thr30872=)
c.92613C>T (p.Thr30871=)
c.92046C>T (p.Thr30682=)
c.89388C>T (p.Thr29796=)
c.89307C>T (p.Thr29769=)
c.71070C>T (p.Thr23690=)
c.60924C>T (p.Thr20308=)
 gnomAD v4
2g.178539890G>CCA430240842TTN,TTN-AS1c.90471C>G (p.Thr30157=)
c.71556C>G (p.Thr23852=)
c.71355C>G (p.Thr23785=)
c.70980C>G (p.Thr23660=)
c.98175C>G (p.Thr32725=)
c.93252C>G (p.Thr31084=)
n.446+16254G>C
n.1840G>C
c.97272C>G (p.Thr32424=)
c.71166C>G (p.Thr23722=)
c.71025C>G (p.Thr23675=)
c.97068C>G (p.Thr32356=)
c.92466C>G (p.Thr30822=)
c.92463C>G (p.Thr30821=)
c.89505C>G (p.Thr29835=)
c.71121C>G (p.Thr23707=)
c.92616C>G (p.Thr30872=)
c.92613C>G (p.Thr30871=)
c.92046C>G (p.Thr30682=)
c.89388C>G (p.Thr29796=)
c.89307C>G (p.Thr29769=)
c.71070C>G (p.Thr23690=)
c.60924C>G (p.Thr20308=)
2g.178539890G=CA1310516528TTN,TTN-AS1c.90471C= (p.Thr30157=)
c.71556C= (p.Thr23852=)
c.71355C= (p.Thr23785=)
c.70980C= (p.Thr23660=)
c.98175C= (p.Thr32725=)
c.93252C= (p.Thr31084=)
n.446+16254G=
n.1840G=
c.97272C= (p.Thr32424=)
c.71166C= (p.Thr23722=)
c.71025C= (p.Thr23675=)
c.97068C= (p.Thr32356=)
c.92466C= (p.Thr30822=)
c.92463C= (p.Thr30821=)
c.89505C= (p.Thr29835=)
c.71121C= (p.Thr23707=)
c.92616C= (p.Thr30872=)
c.92613C= (p.Thr30871=)
c.92046C= (p.Thr30682=)
c.89388C= (p.Thr29796=)
c.89307C= (p.Thr29769=)
c.71070C= (p.Thr23690=)
c.60924C= (p.Thr20308=)
2g.178539890G>TCA430240844TTN,TTN-AS1c.90471C>A (p.Thr30157=)
c.71556C>A (p.Thr23852=)
c.71355C>A (p.Thr23785=)
c.70980C>A (p.Thr23660=)
c.98175C>A (p.Thr32725=)
c.93252C>A (p.Thr31084=)
n.446+16254G>T
n.1840G>T
c.97272C>A (p.Thr32424=)
c.71166C>A (p.Thr23722=)
c.71025C>A (p.Thr23675=)
c.97068C>A (p.Thr32356=)
c.92466C>A (p.Thr30822=)
c.92463C>A (p.Thr30821=)
c.89505C>A (p.Thr29835=)
c.71121C>A (p.Thr23707=)
c.92616C>A (p.Thr30872=)
c.92613C>A (p.Thr30871=)
c.92046C>A (p.Thr30682=)
c.89388C>A (p.Thr29796=)
c.89307C>A (p.Thr29769=)
c.71070C>A (p.Thr23690=)
c.60924C>A (p.Thr20308=)
2g.178539891G>ACA349433471TTN,TTN-AS1c.90470C>T (p.Thr30157Ile)
c.71555C>T (p.Thr23852Ile)
c.71354C>T (p.Thr23785Ile)
c.70979C>T (p.Thr23660Ile)
c.98174C>T (p.Thr32725Ile)
c.93251C>T (p.Thr31084Ile)
n.446+16255G>A
n.1840+1G>A
c.97271C>T (p.Thr32424Ile)
c.71165C>T (p.Thr23722Ile)
c.71024C>T (p.Thr23675Ile)
c.97067C>T (p.Thr32356Ile)
c.92465C>T (p.Thr30822Ile)
c.92462C>T (p.Thr30821Ile)
c.89504C>T (p.Thr29835Ile)
c.71120C>T (p.Thr23707Ile)
c.92615C>T (p.Thr30872Ile)
c.92612C>T (p.Thr30871Ile)
c.92045C>T (p.Thr30682Ile)
c.89387C>T (p.Thr29796Ile)
c.89306C>T (p.Thr29769Ile)
c.71069C>T (p.Thr23690Ile)
c.60923C>T (p.Thr20308Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178539891G>CCA349433477TTN,TTN-AS1c.90470C>G (p.Thr30157Ser)
c.71555C>G (p.Thr23852Ser)
c.71354C>G (p.Thr23785Ser)
c.70979C>G (p.Thr23660Ser)
c.98174C>G (p.Thr32725Ser)
c.93251C>G (p.Thr31084Ser)
n.446+16255G>C
n.1840+1G>C
c.97271C>G (p.Thr32424Ser)
c.71165C>G (p.Thr23722Ser)
c.71024C>G (p.Thr23675Ser)
c.97067C>G (p.Thr32356Ser)
c.92465C>G (p.Thr30822Ser)
c.92462C>G (p.Thr30821Ser)
c.89504C>G (p.Thr29835Ser)
c.71120C>G (p.Thr23707Ser)
c.92615C>G (p.Thr30872Ser)
c.92612C>G (p.Thr30871Ser)
c.92045C>G (p.Thr30682Ser)
c.89387C>G (p.Thr29796Ser)
c.89306C>G (p.Thr29769Ser)
c.71069C>G (p.Thr23690Ser)
c.60923C>G (p.Thr20308Ser)
2g.178539891G>TCA349433474TTN,TTN-AS1c.90470C>A (p.Thr30157Asn)
c.71555C>A (p.Thr23852Asn)
c.71354C>A (p.Thr23785Asn)
c.70979C>A (p.Thr23660Asn)
c.98174C>A (p.Thr32725Asn)
c.93251C>A (p.Thr31084Asn)
n.446+16255G>T
n.1840+1G>T
c.97271C>A (p.Thr32424Asn)
c.71165C>A (p.Thr23722Asn)
c.71024C>A (p.Thr23675Asn)
c.97067C>A (p.Thr32356Asn)
c.92465C>A (p.Thr30822Asn)
c.92462C>A (p.Thr30821Asn)
c.89504C>A (p.Thr29835Asn)
c.71120C>A (p.Thr23707Asn)
c.92615C>A (p.Thr30872Asn)
c.92612C>A (p.Thr30871Asn)
c.92045C>A (p.Thr30682Asn)
c.89387C>A (p.Thr29796Asn)
c.89306C>A (p.Thr29769Asn)
c.71069C>A (p.Thr23690Asn)
c.60923C>A (p.Thr20308Asn)
 gnomAD v4
2g.178539893_178539896dupCA538435041TTN,TTN-AS1c.90467_90470dup (p.Ile30158TyrfsTer13)
c.71552_71555dup (p.Ile23853TyrfsTer13)
c.71351_71354dup (p.Ile23786TyrfsTer13)
c.70976_70979dup (p.Ile23661TyrfsTer13)
c.98171_98174dup (p.Ile32726TyrfsTer13)
c.93248_93251dup (p.Ile31085TyrfsTer13)
n.446+16257_446+16260dup
n.1840+3_1840+6dup
c.97268_97271dup (p.Ile32425TyrfsTer13)
c.71162_71165dup (p.Ile23723TyrfsTer13)
c.71021_71024dup (p.Ile23676TyrfsTer13)
c.97064_97067dup (p.Ile32357TyrfsTer13)
c.92462_92465dup (p.Ile30823TyrfsTer13)
c.92459_92462dup (p.Ile30822TyrfsTer13)
c.89501_89504dup (p.Ile29836TyrfsTer13)
c.71117_71120dup (p.Ile23708TyrfsTer13)
c.92612_92615dup (p.Ile30873TyrfsTer13)
c.92609_92612dup (p.Ile30872TyrfsTer13)
c.92042_92045dup (p.Ile30683TyrfsTer13)
c.89384_89387dup (p.Ile29797TyrfsTer13)
c.89303_89306dup (p.Ile29770TyrfsTer13)
c.71066_71069dup (p.Ile23691TyrfsTer13)
c.60920_60923dup (p.Ile20309TyrfsTer13)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178539892T>ACA349433479TTN,TTN-AS1c.90469A>T (p.Thr30157Ser)
c.71554A>T (p.Thr23852Ser)
c.71353A>T (p.Thr23785Ser)
c.70978A>T (p.Thr23660Ser)
c.98173A>T (p.Thr32725Ser)
c.93250A>T (p.Thr31084Ser)
n.446+16256T>A
n.1840+2T>A
c.97270A>T (p.Thr32424Ser)
c.71164A>T (p.Thr23722Ser)
c.71023A>T (p.Thr23675Ser)
c.97066A>T (p.Thr32356Ser)
c.92464A>T (p.Thr30822Ser)
c.92461A>T (p.Thr30821Ser)
c.89503A>T (p.Thr29835Ser)
c.71119A>T (p.Thr23707Ser)
c.92614A>T (p.Thr30872Ser)
c.92611A>T (p.Thr30871Ser)
c.92044A>T (p.Thr30682Ser)
c.89386A>T (p.Thr29796Ser)
c.89305A>T (p.Thr29769Ser)
c.71068A>T (p.Thr23690Ser)
c.60922A>T (p.Thr20308Ser)
2g.178539892T>CCA349433481TTN,TTN-AS1c.90469A>G (p.Thr30157Ala)
c.71554A>G (p.Thr23852Ala)
c.71353A>G (p.Thr23785Ala)
c.70978A>G (p.Thr23660Ala)
c.98173A>G (p.Thr32725Ala)
c.93250A>G (p.Thr31084Ala)
n.446+16256T>C
n.1840+2T>C
c.97270A>G (p.Thr32424Ala)
c.71164A>G (p.Thr23722Ala)
c.71023A>G (p.Thr23675Ala)
c.97066A>G (p.Thr32356Ala)
c.92464A>G (p.Thr30822Ala)
c.92461A>G (p.Thr30821Ala)
c.89503A>G (p.Thr29835Ala)
c.71119A>G (p.Thr23707Ala)
c.92614A>G (p.Thr30872Ala)
c.92611A>G (p.Thr30871Ala)
c.92044A>G (p.Thr30682Ala)
c.89386A>G (p.Thr29796Ala)
c.89305A>G (p.Thr29769Ala)
c.71068A>G (p.Thr23690Ala)
c.60922A>G (p.Thr20308Ala)
2g.178539892T>GCA349433484TTN,TTN-AS1c.90469A>C (p.Thr30157Pro)
c.71554A>C (p.Thr23852Pro)
c.71353A>C (p.Thr23785Pro)
c.70978A>C (p.Thr23660Pro)
c.98173A>C (p.Thr32725Pro)
c.93250A>C (p.Thr31084Pro)
n.446+16256T>G
n.1840+2T>G
c.97270A>C (p.Thr32424Pro)
c.71164A>C (p.Thr23722Pro)
c.71023A>C (p.Thr23675Pro)
c.97066A>C (p.Thr32356Pro)
c.92464A>C (p.Thr30822Pro)
c.92461A>C (p.Thr30821Pro)
c.89503A>C (p.Thr29835Pro)
c.71119A>C (p.Thr23707Pro)
c.92614A>C (p.Thr30872Pro)
c.92611A>C (p.Thr30871Pro)
c.92044A>C (p.Thr30682Pro)
c.89386A>C (p.Thr29796Pro)
c.89305A>C (p.Thr29769Pro)
c.71068A>C (p.Thr23690Pro)
c.60922A>C (p.Thr20308Pro)
2g.178539893A=CA1310516529TTN,TTN-AS1c.90468T= (p.Leu30156=)
c.71553T= (p.Leu23851=)
c.71352T= (p.Leu23784=)
c.70977T= (p.Leu23659=)
c.98172T= (p.Leu32724=)
c.93249T= (p.Leu31083=)
n.446+16257A=
n.1840+3A=
c.97269T= (p.Leu32423=)
c.71163T= (p.Leu23721=)
c.71022T= (p.Leu23674=)
c.97065T= (p.Leu32355=)
c.92463T= (p.Leu30821=)
c.92460T= (p.Leu30820=)
c.89502T= (p.Leu29834=)
c.71118T= (p.Leu23706=)
c.92613T= (p.Leu30871=)
c.92610T= (p.Leu30870=)
c.92043T= (p.Leu30681=)
c.89385T= (p.Leu29795=)
c.89304T= (p.Leu29768=)
c.71067T= (p.Leu23689=)
c.60921T= (p.Leu20307=)
2g.178539893A>CCA430240847TTN,TTN-AS1c.90468T>G (p.Leu30156=)
c.71553T>G (p.Leu23851=)
c.71352T>G (p.Leu23784=)
c.70977T>G (p.Leu23659=)
c.98172T>G (p.Leu32724=)
c.93249T>G (p.Leu31083=)
n.446+16257A>C
n.1840+3A>C
c.97269T>G (p.Leu32423=)
c.71163T>G (p.Leu23721=)
c.71022T>G (p.Leu23674=)
c.97065T>G (p.Leu32355=)
c.92463T>G (p.Leu30821=)
c.92460T>G (p.Leu30820=)
c.89502T>G (p.Leu29834=)
c.71118T>G (p.Leu23706=)
c.92613T>G (p.Leu30871=)
c.92610T>G (p.Leu30870=)
c.92043T>G (p.Leu30681=)
c.89385T>G (p.Leu29795=)
c.89304T>G (p.Leu29768=)
c.71067T>G (p.Leu23689=)
c.60921T>G (p.Leu20307=)
2g.178539893A>GCA1986417TTN,TTN-AS1c.90468T>C (p.Leu30156=)
c.71553T>C (p.Leu23851=)
c.71352T>C (p.Leu23784=)
c.70977T>C (p.Leu23659=)
c.98172T>C (p.Leu32724=)
c.93249T>C (p.Leu31083=)
n.446+16257A>G
n.1840+3A>G
c.97269T>C (p.Leu32423=)
c.71163T>C (p.Leu23721=)
c.71022T>C (p.Leu23674=)
c.97065T>C (p.Leu32355=)
c.92463T>C (p.Leu30821=)
c.92460T>C (p.Leu30820=)
c.89502T>C (p.Leu29834=)
c.71118T>C (p.Leu23706=)
c.92613T>C (p.Leu30871=)
c.92610T>C (p.Leu30870=)
c.92043T>C (p.Leu30681=)
c.89385T>C (p.Leu29795=)
c.89304T>C (p.Leu29768=)
c.71067T>C (p.Leu23689=)
c.60921T>C (p.Leu20307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178539893A>TCA430240849TTN,TTN-AS1c.90468T>A (p.Leu30156=)
c.71553T>A (p.Leu23851=)
c.71352T>A (p.Leu23784=)
c.70977T>A (p.Leu23659=)
c.98172T>A (p.Leu32724=)
c.93249T>A (p.Leu31083=)
n.446+16257A>T
n.1840+3A>T
c.97269T>A (p.Leu32423=)
c.71163T>A (p.Leu23721=)
c.71022T>A (p.Leu23674=)
c.97065T>A (p.Leu32355=)
c.92463T>A (p.Leu30821=)
c.92460T>A (p.Leu30820=)
c.89502T>A (p.Leu29834=)
c.71118T>A (p.Leu23706=)
c.92613T>A (p.Leu30871=)
c.92610T>A (p.Leu30870=)
c.92043T>A (p.Leu30681=)
c.89385T>A (p.Leu29795=)
c.89304T>A (p.Leu29768=)
c.71067T>A (p.Leu23689=)
c.60921T>A (p.Leu20307=)
2g.178539894A>CCA349433488TTN,TTN-AS1c.90467T>G (p.Leu30156Arg)
c.71552T>G (p.Leu23851Arg)
c.71351T>G (p.Leu23784Arg)
c.70976T>G (p.Leu23659Arg)
c.98171T>G (p.Leu32724Arg)
c.93248T>G (p.Leu31083Arg)
n.446+16258A>C
n.1840+4A>C
c.97268T>G (p.Leu32423Arg)
c.71162T>G (p.Leu23721Arg)
c.71021T>G (p.Leu23674Arg)
c.97064T>G (p.Leu32355Arg)
c.92462T>G (p.Leu30821Arg)
c.92459T>G (p.Leu30820Arg)
c.89501T>G (p.Leu29834Arg)
c.71117T>G (p.Leu23706Arg)
c.92612T>G (p.Leu30871Arg)
c.92609T>G (p.Leu30870Arg)
c.92042T>G (p.Leu30681Arg)
c.89384T>G (p.Leu29795Arg)
c.89303T>G (p.Leu29768Arg)
c.71066T>G (p.Leu23689Arg)
c.60920T>G (p.Leu20307Arg)
2g.178539894A>GCA349433489TTN,TTN-AS1c.90467T>C (p.Leu30156Pro)
c.71552T>C (p.Leu23851Pro)
c.71351T>C (p.Leu23784Pro)
c.70976T>C (p.Leu23659Pro)
c.98171T>C (p.Leu32724Pro)
c.93248T>C (p.Leu31083Pro)
n.446+16258A>G
n.1840+4A>G
c.97268T>C (p.Leu32423Pro)
c.71162T>C (p.Leu23721Pro)
c.71021T>C (p.Leu23674Pro)
c.97064T>C (p.Leu32355Pro)
c.92462T>C (p.Leu30821Pro)
c.92459T>C (p.Leu30820Pro)
c.89501T>C (p.Leu29834Pro)
c.71117T>C (p.Leu23706Pro)
c.92612T>C (p.Leu30871Pro)
c.92609T>C (p.Leu30870Pro)
c.92042T>C (p.Leu30681Pro)
c.89384T>C (p.Leu29795Pro)
c.89303T>C (p.Leu29768Pro)
c.71066T>C (p.Leu23689Pro)
c.60920T>C (p.Leu20307Pro)
 gnomAD v4
2g.178539894A>TCA349433490TTN,TTN-AS1c.90467T>A (p.Leu30156His)
c.71552T>A (p.Leu23851His)
c.71351T>A (p.Leu23784His)
c.70976T>A (p.Leu23659His)
c.98171T>A (p.Leu32724His)
c.93248T>A (p.Leu31083His)
n.446+16258A>T
n.1840+4A>T
c.97268T>A (p.Leu32423His)
c.71162T>A (p.Leu23721His)
c.71021T>A (p.Leu23674His)
c.97064T>A (p.Leu32355His)
c.92462T>A (p.Leu30821His)
c.92459T>A (p.Leu30820His)
c.89501T>A (p.Leu29834His)
c.71117T>A (p.Leu23706His)
c.92612T>A (p.Leu30871His)
c.92609T>A (p.Leu30870His)
c.92042T>A (p.Leu30681His)
c.89384T>A (p.Leu29795His)
c.89303T>A (p.Leu29768His)
c.71066T>A (p.Leu23689His)
c.60920T>A (p.Leu20307His)
2g.178539895G>ACA349433493TTN,TTN-AS1c.90466C>T (p.Leu30156Phe)
c.71551C>T (p.Leu23851Phe)
c.71350C>T (p.Leu23784Phe)
c.70975C>T (p.Leu23659Phe)
c.98170C>T (p.Leu32724Phe)
c.93247C>T (p.Leu31083Phe)
n.446+16259G>A
n.1840+5G>A
c.97267C>T (p.Leu32423Phe)
c.71161C>T (p.Leu23721Phe)
c.71020C>T (p.Leu23674Phe)
c.97063C>T (p.Leu32355Phe)
c.92461C>T (p.Leu30821Phe)
c.92458C>T (p.Leu30820Phe)
c.89500C>T (p.Leu29834Phe)
c.71116C>T (p.Leu23706Phe)
c.92611C>T (p.Leu30871Phe)
c.92608C>T (p.Leu30870Phe)
c.92041C>T (p.Leu30681Phe)
c.89383C>T (p.Leu29795Phe)
c.89302C>T (p.Leu29768Phe)
c.71065C>T (p.Leu23689Phe)
c.60919C>T (p.Leu20307Phe)

Number of alleles fetched