Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178567395T>ACA349601348TTN,TTN-AS1c.71033A>T (p.Asp23678Val)
c.52118A>T (p.Asp17373Val)
c.51917A>T (p.Asp17306Val)
c.51542A>T (p.Asp17181Val)
c.78737A>T (p.Asp26246Val)
c.73814A>T (p.Asp24605Val)
n.447-3905T>A
n.2044-15177T>A
c.77834A>T (p.Asp25945Val)
c.51728A>T (p.Asp17243Val)
c.51587A>T (p.Asp17196Val)
c.77630A>T (p.Asp25877Val)
c.73028A>T (p.Asp24343Val)
c.73025A>T (p.Asp24342Val)
c.70067A>T (p.Asp23356Val)
c.51683A>T (p.Asp17228Val)
c.73178A>T (p.Asp24393Val)
c.73175A>T (p.Asp24392Val)
c.72608A>T (p.Asp24203Val)
c.69950A>T (p.Asp23317Val)
c.69869A>T (p.Asp23290Val)
c.51632A>T (p.Asp17211Val)
c.41486A>T (p.Asp13829Val)
2g.178567395T>CCA349601350TTN,TTN-AS1c.71033A>G (p.Asp23678Gly)
c.52118A>G (p.Asp17373Gly)
c.51917A>G (p.Asp17306Gly)
c.51542A>G (p.Asp17181Gly)
c.78737A>G (p.Asp26246Gly)
c.73814A>G (p.Asp24605Gly)
n.447-3905T>C
n.2044-15177T>C
c.77834A>G (p.Asp25945Gly)
c.51728A>G (p.Asp17243Gly)
c.51587A>G (p.Asp17196Gly)
c.77630A>G (p.Asp25877Gly)
c.73028A>G (p.Asp24343Gly)
c.73025A>G (p.Asp24342Gly)
c.70067A>G (p.Asp23356Gly)
c.51683A>G (p.Asp17228Gly)
c.73178A>G (p.Asp24393Gly)
c.73175A>G (p.Asp24392Gly)
c.72608A>G (p.Asp24203Gly)
c.69950A>G (p.Asp23317Gly)
c.69869A>G (p.Asp23290Gly)
c.51632A>G (p.Asp17211Gly)
c.41486A>G (p.Asp13829Gly)
2g.178567395T>GCA349601352TTN,TTN-AS1c.71033A>C (p.Asp23678Ala)
c.52118A>C (p.Asp17373Ala)
c.51917A>C (p.Asp17306Ala)
c.51542A>C (p.Asp17181Ala)
c.78737A>C (p.Asp26246Ala)
c.73814A>C (p.Asp24605Ala)
n.447-3905T>G
n.2044-15177T>G
c.77834A>C (p.Asp25945Ala)
c.51728A>C (p.Asp17243Ala)
c.51587A>C (p.Asp17196Ala)
c.77630A>C (p.Asp25877Ala)
c.73028A>C (p.Asp24343Ala)
c.73025A>C (p.Asp24342Ala)
c.70067A>C (p.Asp23356Ala)
c.51683A>C (p.Asp17228Ala)
c.73178A>C (p.Asp24393Ala)
c.73175A>C (p.Asp24392Ala)
c.72608A>C (p.Asp24203Ala)
c.69950A>C (p.Asp23317Ala)
c.69869A>C (p.Asp23290Ala)
c.51632A>C (p.Asp17211Ala)
c.41486A>C (p.Asp13829Ala)
2g.178567396C>ACA349601357TTN,TTN-AS1c.71032G>T (p.Asp23678Tyr)
c.52117G>T (p.Asp17373Tyr)
c.51916G>T (p.Asp17306Tyr)
c.51541G>T (p.Asp17181Tyr)
c.78736G>T (p.Asp26246Tyr)
c.73813G>T (p.Asp24605Tyr)
n.447-3904C>A
n.2044-15176C>A
c.77833G>T (p.Asp25945Tyr)
c.51727G>T (p.Asp17243Tyr)
c.51586G>T (p.Asp17196Tyr)
c.77629G>T (p.Asp25877Tyr)
c.73027G>T (p.Asp24343Tyr)
c.73024G>T (p.Asp24342Tyr)
c.70066G>T (p.Asp23356Tyr)
c.51682G>T (p.Asp17228Tyr)
c.73177G>T (p.Asp24393Tyr)
c.73174G>T (p.Asp24392Tyr)
c.72607G>T (p.Asp24203Tyr)
c.69949G>T (p.Asp23317Tyr)
c.69868G>T (p.Asp23290Tyr)
c.51631G>T (p.Asp17211Tyr)
c.41485G>T (p.Asp13829Tyr)
2g.178567396C=CA1310529896TTN,TTN-AS1c.71032G= (p.Asp23678=)
c.52117G= (p.Asp17373=)
c.51916G= (p.Asp17306=)
c.51541G= (p.Asp17181=)
c.78736G= (p.Asp26246=)
c.73813G= (p.Asp24605=)
n.447-3904C=
n.2044-15176C=
c.77833G= (p.Asp25945=)
c.51727G= (p.Asp17243=)
c.51586G= (p.Asp17196=)
c.77629G= (p.Asp25877=)
c.73027G= (p.Asp24343=)
c.73024G= (p.Asp24342=)
c.70066G= (p.Asp23356=)
c.51682G= (p.Asp17228=)
c.73177G= (p.Asp24393=)
c.73174G= (p.Asp24392=)
c.72607G= (p.Asp24203=)
c.69949G= (p.Asp23317=)
c.69868G= (p.Asp23290=)
c.51631G= (p.Asp17211=)
c.41485G= (p.Asp13829=)
2g.178567396C>GCA349601355TTN,TTN-AS1c.71032G>C (p.Asp23678His)
c.52117G>C (p.Asp17373His)
c.51916G>C (p.Asp17306His)
c.51541G>C (p.Asp17181His)
c.78736G>C (p.Asp26246His)
c.73813G>C (p.Asp24605His)
n.447-3904C>G
n.2044-15176C>G
c.77833G>C (p.Asp25945His)
c.51727G>C (p.Asp17243His)
c.51586G>C (p.Asp17196His)
c.77629G>C (p.Asp25877His)
c.73027G>C (p.Asp24343His)
c.73024G>C (p.Asp24342His)
c.70066G>C (p.Asp23356His)
c.51682G>C (p.Asp17228His)
c.73177G>C (p.Asp24393His)
c.73174G>C (p.Asp24392His)
c.72607G>C (p.Asp24203His)
c.69949G>C (p.Asp23317His)
c.69868G>C (p.Asp23290His)
c.51631G>C (p.Asp17211His)
c.41485G>C (p.Asp13829His)
2g.178567396C>TCA60991185TTN,TTN-AS1c.71032G>A (p.Asp23678Asn)
c.52117G>A (p.Asp17373Asn)
c.51916G>A (p.Asp17306Asn)
c.51541G>A (p.Asp17181Asn)
c.78736G>A (p.Asp26246Asn)
c.73813G>A (p.Asp24605Asn)
n.447-3904C>T
n.2044-15176C>T
c.77833G>A (p.Asp25945Asn)
c.51727G>A (p.Asp17243Asn)
c.51586G>A (p.Asp17196Asn)
c.77629G>A (p.Asp25877Asn)
c.73027G>A (p.Asp24343Asn)
c.73024G>A (p.Asp24342Asn)
c.70066G>A (p.Asp23356Asn)
c.51682G>A (p.Asp17228Asn)
c.73177G>A (p.Asp24393Asn)
c.73174G>A (p.Asp24392Asn)
c.72607G>A (p.Asp24203Asn)
c.69949G>A (p.Asp23317Asn)
c.69868G>A (p.Asp23290Asn)
c.51631G>A (p.Asp17211Asn)
c.41485G>A (p.Asp13829Asn)
 dbSNP gnomAD v4
2g.178567397T>ACA430252730TTN,TTN-AS1c.71031A>T (p.Thr23677=)
c.52116A>T (p.Thr17372=)
c.51915A>T (p.Thr17305=)
c.51540A>T (p.Thr17180=)
c.78735A>T (p.Thr26245=)
c.73812A>T (p.Thr24604=)
n.447-3903T>A
n.2044-15175T>A
c.77832A>T (p.Thr25944=)
c.51726A>T (p.Thr17242=)
c.51585A>T (p.Thr17195=)
c.77628A>T (p.Thr25876=)
c.73026A>T (p.Thr24342=)
c.73023A>T (p.Thr24341=)
c.70065A>T (p.Thr23355=)
c.51681A>T (p.Thr17227=)
c.73176A>T (p.Thr24392=)
c.73173A>T (p.Thr24391=)
c.72606A>T (p.Thr24202=)
c.69948A>T (p.Thr23316=)
c.69867A>T (p.Thr23289=)
c.51630A>T (p.Thr17210=)
c.41484A>T (p.Thr13828=)
2g.178567397T>CCA430252731TTN,TTN-AS1c.71031A>G (p.Thr23677=)
c.52116A>G (p.Thr17372=)
c.51915A>G (p.Thr17305=)
c.51540A>G (p.Thr17180=)
c.78735A>G (p.Thr26245=)
c.73812A>G (p.Thr24604=)
n.447-3903T>C
n.2044-15175T>C
c.77832A>G (p.Thr25944=)
c.51726A>G (p.Thr17242=)
c.51585A>G (p.Thr17195=)
c.77628A>G (p.Thr25876=)
c.73026A>G (p.Thr24342=)
c.73023A>G (p.Thr24341=)
c.70065A>G (p.Thr23355=)
c.51681A>G (p.Thr17227=)
c.73176A>G (p.Thr24392=)
c.73173A>G (p.Thr24391=)
c.72606A>G (p.Thr24202=)
c.69948A>G (p.Thr23316=)
c.69867A>G (p.Thr23289=)
c.51630A>G (p.Thr17210=)
c.41484A>G (p.Thr13828=)
2g.178567397T>GCA430252732TTN,TTN-AS1c.71031A>C (p.Thr23677=)
c.52116A>C (p.Thr17372=)
c.51915A>C (p.Thr17305=)
c.51540A>C (p.Thr17180=)
c.78735A>C (p.Thr26245=)
c.73812A>C (p.Thr24604=)
n.447-3903T>G
n.2044-15175T>G
c.77832A>C (p.Thr25944=)
c.51726A>C (p.Thr17242=)
c.51585A>C (p.Thr17195=)
c.77628A>C (p.Thr25876=)
c.73026A>C (p.Thr24342=)
c.73023A>C (p.Thr24341=)
c.70065A>C (p.Thr23355=)
c.51681A>C (p.Thr17227=)
c.73176A>C (p.Thr24392=)
c.73173A>C (p.Thr24391=)
c.72606A>C (p.Thr24202=)
c.69948A>C (p.Thr23316=)
c.69867A>C (p.Thr23289=)
c.51630A>C (p.Thr17210=)
c.41484A>C (p.Thr13828=)
2g.178567398G>ACA349601359TTN,TTN-AS1c.71030C>T (p.Thr23677Ile)
c.52115C>T (p.Thr17372Ile)
c.51914C>T (p.Thr17305Ile)
c.51539C>T (p.Thr17180Ile)
c.78734C>T (p.Thr26245Ile)
c.73811C>T (p.Thr24604Ile)
n.447-3902G>A
n.2044-15174G>A
c.77831C>T (p.Thr25944Ile)
c.51725C>T (p.Thr17242Ile)
c.51584C>T (p.Thr17195Ile)
c.77627C>T (p.Thr25876Ile)
c.73025C>T (p.Thr24342Ile)
c.73022C>T (p.Thr24341Ile)
c.70064C>T (p.Thr23355Ile)
c.51680C>T (p.Thr17227Ile)
c.73175C>T (p.Thr24392Ile)
c.73172C>T (p.Thr24391Ile)
c.72605C>T (p.Thr24202Ile)
c.69947C>T (p.Thr23316Ile)
c.69866C>T (p.Thr23289Ile)
c.51629C>T (p.Thr17210Ile)
c.41483C>T (p.Thr13828Ile)
 dbSNP
2g.178567398G>CCA349601371TTN,TTN-AS1c.71030C>G (p.Thr23677Arg)
c.52115C>G (p.Thr17372Arg)
c.51914C>G (p.Thr17305Arg)
c.51539C>G (p.Thr17180Arg)
c.78734C>G (p.Thr26245Arg)
c.73811C>G (p.Thr24604Arg)
n.447-3902G>C
n.2044-15174G>C
c.77831C>G (p.Thr25944Arg)
c.51725C>G (p.Thr17242Arg)
c.51584C>G (p.Thr17195Arg)
c.77627C>G (p.Thr25876Arg)
c.73025C>G (p.Thr24342Arg)
c.73022C>G (p.Thr24341Arg)
c.70064C>G (p.Thr23355Arg)
c.51680C>G (p.Thr17227Arg)
c.73175C>G (p.Thr24392Arg)
c.73172C>G (p.Thr24391Arg)
c.72605C>G (p.Thr24202Arg)
c.69947C>G (p.Thr23316Arg)
c.69866C>G (p.Thr23289Arg)
c.51629C>G (p.Thr17210Arg)
c.41483C>G (p.Thr13828Arg)
2g.178567398G>TCA349601361TTN,TTN-AS1c.71030C>A (p.Thr23677Lys)
c.52115C>A (p.Thr17372Lys)
c.51914C>A (p.Thr17305Lys)
c.51539C>A (p.Thr17180Lys)
c.78734C>A (p.Thr26245Lys)
c.73811C>A (p.Thr24604Lys)
n.447-3902G>T
n.2044-15174G>T
c.77831C>A (p.Thr25944Lys)
c.51725C>A (p.Thr17242Lys)
c.51584C>A (p.Thr17195Lys)
c.77627C>A (p.Thr25876Lys)
c.73025C>A (p.Thr24342Lys)
c.73022C>A (p.Thr24341Lys)
c.70064C>A (p.Thr23355Lys)
c.51680C>A (p.Thr17227Lys)
c.73175C>A (p.Thr24392Lys)
c.73172C>A (p.Thr24391Lys)
c.72605C>A (p.Thr24202Lys)
c.69947C>A (p.Thr23316Lys)
c.69866C>A (p.Thr23289Lys)
c.51629C>A (p.Thr17210Lys)
c.41483C>A (p.Thr13828Lys)
2g.178567399T>ACA349601374TTN,TTN-AS1c.71029A>T (p.Thr23677Ser)
c.52114A>T (p.Thr17372Ser)
c.51913A>T (p.Thr17305Ser)
c.51538A>T (p.Thr17180Ser)
c.78733A>T (p.Thr26245Ser)
c.73810A>T (p.Thr24604Ser)
n.447-3901T>A
n.2044-15173T>A
c.77830A>T (p.Thr25944Ser)
c.51724A>T (p.Thr17242Ser)
c.51583A>T (p.Thr17195Ser)
c.77626A>T (p.Thr25876Ser)
c.73024A>T (p.Thr24342Ser)
c.73021A>T (p.Thr24341Ser)
c.70063A>T (p.Thr23355Ser)
c.51679A>T (p.Thr17227Ser)
c.73174A>T (p.Thr24392Ser)
c.73171A>T (p.Thr24391Ser)
c.72604A>T (p.Thr24202Ser)
c.69946A>T (p.Thr23316Ser)
c.69865A>T (p.Thr23289Ser)
c.51628A>T (p.Thr17210Ser)
c.41482A>T (p.Thr13828Ser)
2g.178567399T>CCA349601376TTN,TTN-AS1c.71029A>G (p.Thr23677Ala)
c.52114A>G (p.Thr17372Ala)
c.51913A>G (p.Thr17305Ala)
c.51538A>G (p.Thr17180Ala)
c.78733A>G (p.Thr26245Ala)
c.73810A>G (p.Thr24604Ala)
n.447-3901T>C
n.2044-15173T>C
c.77830A>G (p.Thr25944Ala)
c.51724A>G (p.Thr17242Ala)
c.51583A>G (p.Thr17195Ala)
c.77626A>G (p.Thr25876Ala)
c.73024A>G (p.Thr24342Ala)
c.73021A>G (p.Thr24341Ala)
c.70063A>G (p.Thr23355Ala)
c.51679A>G (p.Thr17227Ala)
c.73174A>G (p.Thr24392Ala)
c.73171A>G (p.Thr24391Ala)
c.72604A>G (p.Thr24202Ala)
c.69946A>G (p.Thr23316Ala)
c.69865A>G (p.Thr23289Ala)
c.51628A>G (p.Thr17210Ala)
c.41482A>G (p.Thr13828Ala)
2g.178567399T>GCA349601377TTN,TTN-AS1c.71029A>C (p.Thr23677Pro)
c.52114A>C (p.Thr17372Pro)
c.51913A>C (p.Thr17305Pro)
c.51538A>C (p.Thr17180Pro)
c.78733A>C (p.Thr26245Pro)
c.73810A>C (p.Thr24604Pro)
n.447-3901T>G
n.2044-15173T>G
c.77830A>C (p.Thr25944Pro)
c.51724A>C (p.Thr17242Pro)
c.51583A>C (p.Thr17195Pro)
c.77626A>C (p.Thr25876Pro)
c.73024A>C (p.Thr24342Pro)
c.73021A>C (p.Thr24341Pro)
c.70063A>C (p.Thr23355Pro)
c.51679A>C (p.Thr17227Pro)
c.73174A>C (p.Thr24392Pro)
c.73171A>C (p.Thr24391Pro)
c.72604A>C (p.Thr24202Pro)
c.69946A>C (p.Thr23316Pro)
c.69865A>C (p.Thr23289Pro)
c.51628A>C (p.Thr17210Pro)
c.41482A>C (p.Thr13828Pro)
2g.178567400G>ACA430252739TTN,TTN-AS1c.71028C>T (p.Asn23676=)
c.52113C>T (p.Asn17371=)
c.51912C>T (p.Asn17304=)
c.51537C>T (p.Asn17179=)
c.78732C>T (p.Asn26244=)
c.73809C>T (p.Asn24603=)
n.447-3900G>A
n.2044-15172G>A
c.77829C>T (p.Asn25943=)
c.51723C>T (p.Asn17241=)
c.51582C>T (p.Asn17194=)
c.77625C>T (p.Asn25875=)
c.73023C>T (p.Asn24341=)
c.73020C>T (p.Asn24340=)
c.70062C>T (p.Asn23354=)
c.51678C>T (p.Asn17226=)
c.73173C>T (p.Asn24391=)
c.73170C>T (p.Asn24390=)
c.72603C>T (p.Asn24201=)
c.69945C>T (p.Asn23315=)
c.69864C>T (p.Asn23288=)
c.51627C>T (p.Asn17209=)
c.41481C>T (p.Asn13827=)
2g.178567400G>CCA349601380TTN,TTN-AS1c.71028C>G (p.Asn23676Lys)
c.52113C>G (p.Asn17371Lys)
c.51912C>G (p.Asn17304Lys)
c.51537C>G (p.Asn17179Lys)
c.78732C>G (p.Asn26244Lys)
c.73809C>G (p.Asn24603Lys)
n.447-3900G>C
n.2044-15172G>C
c.77829C>G (p.Asn25943Lys)
c.51723C>G (p.Asn17241Lys)
c.51582C>G (p.Asn17194Lys)
c.77625C>G (p.Asn25875Lys)
c.73023C>G (p.Asn24341Lys)
c.73020C>G (p.Asn24340Lys)
c.70062C>G (p.Asn23354Lys)
c.51678C>G (p.Asn17226Lys)
c.73173C>G (p.Asn24391Lys)
c.73170C>G (p.Asn24390Lys)
c.72603C>G (p.Asn24201Lys)
c.69945C>G (p.Asn23315Lys)
c.69864C>G (p.Asn23288Lys)
c.51627C>G (p.Asn17209Lys)
c.41481C>G (p.Asn13827Lys)
 gnomAD v4
2g.178567400G>TCA349601381TTN,TTN-AS1c.71028C>A (p.Asn23676Lys)
c.52113C>A (p.Asn17371Lys)
c.51912C>A (p.Asn17304Lys)
c.51537C>A (p.Asn17179Lys)
c.78732C>A (p.Asn26244Lys)
c.73809C>A (p.Asn24603Lys)
n.447-3900G>T
n.2044-15172G>T
c.77829C>A (p.Asn25943Lys)
c.51723C>A (p.Asn17241Lys)
c.51582C>A (p.Asn17194Lys)
c.77625C>A (p.Asn25875Lys)
c.73023C>A (p.Asn24341Lys)
c.73020C>A (p.Asn24340Lys)
c.70062C>A (p.Asn23354Lys)
c.51678C>A (p.Asn17226Lys)
c.73173C>A (p.Asn24391Lys)
c.73170C>A (p.Asn24390Lys)
c.72603C>A (p.Asn24201Lys)
c.69945C>A (p.Asn23315Lys)
c.69864C>A (p.Asn23288Lys)
c.51627C>A (p.Asn17209Lys)
c.41481C>A (p.Asn13827Lys)
2g.178567401T>ACA349601383TTN,TTN-AS1c.71027A>T (p.Asn23676Ile)
c.52112A>T (p.Asn17371Ile)
c.51911A>T (p.Asn17304Ile)
c.51536A>T (p.Asn17179Ile)
c.78731A>T (p.Asn26244Ile)
c.73808A>T (p.Asn24603Ile)
n.447-3899T>A
n.2044-15171T>A
c.77828A>T (p.Asn25943Ile)
c.51722A>T (p.Asn17241Ile)
c.51581A>T (p.Asn17194Ile)
c.77624A>T (p.Asn25875Ile)
c.73022A>T (p.Asn24341Ile)
c.73019A>T (p.Asn24340Ile)
c.70061A>T (p.Asn23354Ile)
c.51677A>T (p.Asn17226Ile)
c.73172A>T (p.Asn24391Ile)
c.73169A>T (p.Asn24390Ile)
c.72602A>T (p.Asn24201Ile)
c.69944A>T (p.Asn23315Ile)
c.69863A>T (p.Asn23288Ile)
c.51626A>T (p.Asn17209Ile)
c.41480A>T (p.Asn13827Ile)
2g.178567401T>CCA349601385TTN,TTN-AS1c.71027A>G (p.Asn23676Ser)
c.52112A>G (p.Asn17371Ser)
c.51911A>G (p.Asn17304Ser)
c.51536A>G (p.Asn17179Ser)
c.78731A>G (p.Asn26244Ser)
c.73808A>G (p.Asn24603Ser)
n.447-3899T>C
n.2044-15171T>C
c.77828A>G (p.Asn25943Ser)
c.51722A>G (p.Asn17241Ser)
c.51581A>G (p.Asn17194Ser)
c.77624A>G (p.Asn25875Ser)
c.73022A>G (p.Asn24341Ser)
c.73019A>G (p.Asn24340Ser)
c.70061A>G (p.Asn23354Ser)
c.51677A>G (p.Asn17226Ser)
c.73172A>G (p.Asn24391Ser)
c.73169A>G (p.Asn24390Ser)
c.72602A>G (p.Asn24201Ser)
c.69944A>G (p.Asn23315Ser)
c.69863A>G (p.Asn23288Ser)
c.51626A>G (p.Asn17209Ser)
c.41480A>G (p.Asn13827Ser)
 gnomAD v4
2g.178567401T>GCA349601387TTN,TTN-AS1c.71027A>C (p.Asn23676Thr)
c.52112A>C (p.Asn17371Thr)
c.51911A>C (p.Asn17304Thr)
c.51536A>C (p.Asn17179Thr)
c.78731A>C (p.Asn26244Thr)
c.73808A>C (p.Asn24603Thr)
n.447-3899T>G
n.2044-15171T>G
c.77828A>C (p.Asn25943Thr)
c.51722A>C (p.Asn17241Thr)
c.51581A>C (p.Asn17194Thr)
c.77624A>C (p.Asn25875Thr)
c.73022A>C (p.Asn24341Thr)
c.73019A>C (p.Asn24340Thr)
c.70061A>C (p.Asn23354Thr)
c.51677A>C (p.Asn17226Thr)
c.73172A>C (p.Asn24391Thr)
c.73169A>C (p.Asn24390Thr)
c.72602A>C (p.Asn24201Thr)
c.69944A>C (p.Asn23315Thr)
c.69863A>C (p.Asn23288Thr)
c.51626A>C (p.Asn17209Thr)
c.41480A>C (p.Asn13827Thr)
2g.178567403_178567406delCA2586965218TTN,TTN-AS1c.71024_71027del (p.Lys23675ThrfsTer10)
c.52109_52112del (p.Lys17370ThrfsTer10)
c.51908_51911del (p.Lys17303ThrfsTer10)
c.51533_51536del (p.Lys17178ThrfsTer10)
c.78728_78731del (p.Lys26243ThrfsTer10)
c.73805_73808del (p.Lys24602ThrfsTer10)
n.447-3897_447-3894del
n.2044-15169_2044-15166del
c.77825_77828del (p.Lys25942ThrfsTer10)
c.51719_51722del (p.Lys17240ThrfsTer10)
c.51578_51581del (p.Lys17193ThrfsTer10)
c.77621_77624del (p.Lys25874ThrfsTer10)
c.73019_73022del (p.Lys24340ThrfsTer10)
c.73016_73019del (p.Lys24339ThrfsTer10)
c.70058_70061del (p.Lys23353ThrfsTer10)
c.51674_51677del (p.Lys17225ThrfsTer10)
c.73169_73172del (p.Lys24390ThrfsTer10)
c.73166_73169del (p.Lys24389ThrfsTer10)
c.72599_72602del (p.Lys24200ThrfsTer10)
c.69941_69944del (p.Lys23314ThrfsTer10)
c.69860_69863del (p.Lys23287ThrfsTer10)
c.51623_51626del (p.Lys17208ThrfsTer10)
c.41477_41480del (p.Lys13826ThrfsTer10)
 ClinVar gnomAD v4
2g.178567402T>ACA349601389TTN,TTN-AS1c.71026A>T (p.Asn23676Tyr)
c.52111A>T (p.Asn17371Tyr)
c.51910A>T (p.Asn17304Tyr)
c.51535A>T (p.Asn17179Tyr)
c.78730A>T (p.Asn26244Tyr)
c.73807A>T (p.Asn24603Tyr)
n.447-3898T>A
n.2044-15170T>A
c.77827A>T (p.Asn25943Tyr)
c.51721A>T (p.Asn17241Tyr)
c.51580A>T (p.Asn17194Tyr)
c.77623A>T (p.Asn25875Tyr)
c.73021A>T (p.Asn24341Tyr)
c.73018A>T (p.Asn24340Tyr)
c.70060A>T (p.Asn23354Tyr)
c.51676A>T (p.Asn17226Tyr)
c.73171A>T (p.Asn24391Tyr)
c.73168A>T (p.Asn24390Tyr)
c.72601A>T (p.Asn24201Tyr)
c.69943A>T (p.Asn23315Tyr)
c.69862A>T (p.Asn23288Tyr)
c.51625A>T (p.Asn17209Tyr)
c.41479A>T (p.Asn13827Tyr)
2g.178567402T>CCA349601390TTN,TTN-AS1c.71026A>G (p.Asn23676Asp)
c.52111A>G (p.Asn17371Asp)
c.51910A>G (p.Asn17304Asp)
c.51535A>G (p.Asn17179Asp)
c.78730A>G (p.Asn26244Asp)
c.73807A>G (p.Asn24603Asp)
n.447-3898T>C
n.2044-15170T>C
c.77827A>G (p.Asn25943Asp)
c.51721A>G (p.Asn17241Asp)
c.51580A>G (p.Asn17194Asp)
c.77623A>G (p.Asn25875Asp)
c.73021A>G (p.Asn24341Asp)
c.73018A>G (p.Asn24340Asp)
c.70060A>G (p.Asn23354Asp)
c.51676A>G (p.Asn17226Asp)
c.73171A>G (p.Asn24391Asp)
c.73168A>G (p.Asn24390Asp)
c.72601A>G (p.Asn24201Asp)
c.69943A>G (p.Asn23315Asp)
c.69862A>G (p.Asn23288Asp)
c.51625A>G (p.Asn17209Asp)
c.41479A>G (p.Asn13827Asp)
 gnomAD v4
2g.178567402T>GCA349601392TTN,TTN-AS1c.71026A>C (p.Asn23676His)
c.52111A>C (p.Asn17371His)
c.51910A>C (p.Asn17304His)
c.51535A>C (p.Asn17179His)
c.78730A>C (p.Asn26244His)
c.73807A>C (p.Asn24603His)
n.447-3898T>G
n.2044-15170T>G
c.77827A>C (p.Asn25943His)
c.51721A>C (p.Asn17241His)
c.51580A>C (p.Asn17194His)
c.77623A>C (p.Asn25875His)
c.73021A>C (p.Asn24341His)
c.73018A>C (p.Asn24340His)
c.70060A>C (p.Asn23354His)
c.51676A>C (p.Asn17226His)
c.73171A>C (p.Asn24391His)
c.73168A>C (p.Asn24390His)
c.72601A>C (p.Asn24201His)
c.69943A>C (p.Asn23315His)
c.69862A>C (p.Asn23288His)
c.51625A>C (p.Asn17209His)
c.41479A>C (p.Asn13827His)
 gnomAD v4
2g.178567403C>ACA349601393TTN,TTN-AS1c.71025G>T (p.Lys23675Asn)
c.52110G>T (p.Lys17370Asn)
c.51909G>T (p.Lys17303Asn)
c.51534G>T (p.Lys17178Asn)
c.78729G>T (p.Lys26243Asn)
c.73806G>T (p.Lys24602Asn)
n.447-3897C>A
n.2044-15169C>A
c.77826G>T (p.Lys25942Asn)
c.51720G>T (p.Lys17240Asn)
c.51579G>T (p.Lys17193Asn)
c.77622G>T (p.Lys25874Asn)
c.73020G>T (p.Lys24340Asn)
c.73017G>T (p.Lys24339Asn)
c.70059G>T (p.Lys23353Asn)
c.51675G>T (p.Lys17225Asn)
c.73170G>T (p.Lys24390Asn)
c.73167G>T (p.Lys24389Asn)
c.72600G>T (p.Lys24200Asn)
c.69942G>T (p.Lys23314Asn)
c.69861G>T (p.Lys23287Asn)
c.51624G>T (p.Lys17208Asn)
c.41478G>T (p.Lys13826Asn)
2g.178567403C>GCA349601395TTN,TTN-AS1c.71025G>C (p.Lys23675Asn)
c.52110G>C (p.Lys17370Asn)
c.51909G>C (p.Lys17303Asn)
c.51534G>C (p.Lys17178Asn)
c.78729G>C (p.Lys26243Asn)
c.73806G>C (p.Lys24602Asn)
n.447-3897C>G
n.2044-15169C>G
c.77826G>C (p.Lys25942Asn)
c.51720G>C (p.Lys17240Asn)
c.51579G>C (p.Lys17193Asn)
c.77622G>C (p.Lys25874Asn)
c.73020G>C (p.Lys24340Asn)
c.73017G>C (p.Lys24339Asn)
c.70059G>C (p.Lys23353Asn)
c.51675G>C (p.Lys17225Asn)
c.73170G>C (p.Lys24390Asn)
c.73167G>C (p.Lys24389Asn)
c.72600G>C (p.Lys24200Asn)
c.69942G>C (p.Lys23314Asn)
c.69861G>C (p.Lys23287Asn)
c.51624G>C (p.Lys17208Asn)
c.41478G>C (p.Lys13826Asn)
2g.178567403C>TCA430252742TTN,TTN-AS1c.71025G>A (p.Lys23675=)
c.52110G>A (p.Lys17370=)
c.51909G>A (p.Lys17303=)
c.51534G>A (p.Lys17178=)
c.78729G>A (p.Lys26243=)
c.73806G>A (p.Lys24602=)
n.447-3897C>T
n.2044-15169C>T
c.77826G>A (p.Lys25942=)
c.51720G>A (p.Lys17240=)
c.51579G>A (p.Lys17193=)
c.77622G>A (p.Lys25874=)
c.73020G>A (p.Lys24340=)
c.73017G>A (p.Lys24339=)
c.70059G>A (p.Lys23353=)
c.51675G>A (p.Lys17225=)
c.73170G>A (p.Lys24390=)
c.73167G>A (p.Lys24389=)
c.72600G>A (p.Lys24200=)
c.69942G>A (p.Lys23314=)
c.69861G>A (p.Lys23287=)
c.51624G>A (p.Lys17208=)
c.41478G>A (p.Lys13826=)
2g.178567404T>ACA1989569TTN,TTN-AS1c.71024A>T (p.Lys23675Met)
c.52109A>T (p.Lys17370Met)
c.51908A>T (p.Lys17303Met)
c.51533A>T (p.Lys17178Met)
c.78728A>T (p.Lys26243Met)
c.73805A>T (p.Lys24602Met)
n.447-3896T>A
n.2044-15168T>A
c.77825A>T (p.Lys25942Met)
c.51719A>T (p.Lys17240Met)
c.51578A>T (p.Lys17193Met)
c.77621A>T (p.Lys25874Met)
c.73019A>T (p.Lys24340Met)
c.73016A>T (p.Lys24339Met)
c.70058A>T (p.Lys23353Met)
c.51674A>T (p.Lys17225Met)
c.73169A>T (p.Lys24390Met)
c.73166A>T (p.Lys24389Met)
c.72599A>T (p.Lys24200Met)
c.69941A>T (p.Lys23314Met)
c.69860A>T (p.Lys23287Met)
c.51623A>T (p.Lys17208Met)
c.41477A>T (p.Lys13826Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178567404T>CCA349601397TTN,TTN-AS1c.71024A>G (p.Lys23675Arg)
c.52109A>G (p.Lys17370Arg)
c.51908A>G (p.Lys17303Arg)
c.51533A>G (p.Lys17178Arg)
c.78728A>G (p.Lys26243Arg)
c.73805A>G (p.Lys24602Arg)
n.447-3896T>C
n.2044-15168T>C
c.77825A>G (p.Lys25942Arg)
c.51719A>G (p.Lys17240Arg)
c.51578A>G (p.Lys17193Arg)
c.77621A>G (p.Lys25874Arg)
c.73019A>G (p.Lys24340Arg)
c.73016A>G (p.Lys24339Arg)
c.70058A>G (p.Lys23353Arg)
c.51674A>G (p.Lys17225Arg)
c.73169A>G (p.Lys24390Arg)
c.73166A>G (p.Lys24389Arg)
c.72599A>G (p.Lys24200Arg)
c.69941A>G (p.Lys23314Arg)
c.69860A>G (p.Lys23287Arg)
c.51623A>G (p.Lys17208Arg)
c.41477A>G (p.Lys13826Arg)
2g.178567404T>GCA349601400TTN,TTN-AS1c.71024A>C (p.Lys23675Thr)
c.52109A>C (p.Lys17370Thr)
c.51908A>C (p.Lys17303Thr)
c.51533A>C (p.Lys17178Thr)
c.78728A>C (p.Lys26243Thr)
c.73805A>C (p.Lys24602Thr)
n.447-3896T>G
n.2044-15168T>G
c.77825A>C (p.Lys25942Thr)
c.51719A>C (p.Lys17240Thr)
c.51578A>C (p.Lys17193Thr)
c.77621A>C (p.Lys25874Thr)
c.73019A>C (p.Lys24340Thr)
c.73016A>C (p.Lys24339Thr)
c.70058A>C (p.Lys23353Thr)
c.51674A>C (p.Lys17225Thr)
c.73169A>C (p.Lys24390Thr)
c.73166A>C (p.Lys24389Thr)
c.72599A>C (p.Lys24200Thr)
c.69941A>C (p.Lys23314Thr)
c.69860A>C (p.Lys23287Thr)
c.51623A>C (p.Lys17208Thr)
c.41477A>C (p.Lys13826Thr)
2g.178567404T=CA1310529897TTN,TTN-AS1c.71024A= (p.Lys23675=)
c.52109A= (p.Lys17370=)
c.51908A= (p.Lys17303=)
c.51533A= (p.Lys17178=)
c.78728A= (p.Lys26243=)
c.73805A= (p.Lys24602=)
n.447-3896T=
n.2044-15168T=
c.77825A= (p.Lys25942=)
c.51719A= (p.Lys17240=)
c.51578A= (p.Lys17193=)
c.77621A= (p.Lys25874=)
c.73019A= (p.Lys24340=)
c.73016A= (p.Lys24339=)
c.70058A= (p.Lys23353=)
c.51674A= (p.Lys17225=)
c.73169A= (p.Lys24390=)
c.73166A= (p.Lys24389=)
c.72599A= (p.Lys24200=)
c.69941A= (p.Lys23314=)
c.69860A= (p.Lys23287=)
c.51623A= (p.Lys17208=)
c.41477A= (p.Lys13826=)
2g.178567405T>ACA349601403TTN,TTN-AS1c.71023A>T (p.Lys23675Ter)
c.52108A>T (p.Lys17370Ter)
c.51907A>T (p.Lys17303Ter)
c.51532A>T (p.Lys17178Ter)
c.78727A>T (p.Lys26243Ter)
c.73804A>T (p.Lys24602Ter)
n.447-3895T>A
n.2044-15167T>A
c.77824A>T (p.Lys25942Ter)
c.51718A>T (p.Lys17240Ter)
c.51577A>T (p.Lys17193Ter)
c.77620A>T (p.Lys25874Ter)
c.73018A>T (p.Lys24340Ter)
c.73015A>T (p.Lys24339Ter)
c.70057A>T (p.Lys23353Ter)
c.51673A>T (p.Lys17225Ter)
c.73168A>T (p.Lys24390Ter)
c.73165A>T (p.Lys24389Ter)
c.72598A>T (p.Lys24200Ter)
c.69940A>T (p.Lys23314Ter)
c.69859A>T (p.Lys23287Ter)
c.51622A>T (p.Lys17208Ter)
c.41476A>T (p.Lys13826Ter)
2g.178567405T>CCA349601404TTN,TTN-AS1c.71023A>G (p.Lys23675Glu)
c.52108A>G (p.Lys17370Glu)
c.51907A>G (p.Lys17303Glu)
c.51532A>G (p.Lys17178Glu)
c.78727A>G (p.Lys26243Glu)
c.73804A>G (p.Lys24602Glu)
n.447-3895T>C
n.2044-15167T>C
c.77824A>G (p.Lys25942Glu)
c.51718A>G (p.Lys17240Glu)
c.51577A>G (p.Lys17193Glu)
c.77620A>G (p.Lys25874Glu)
c.73018A>G (p.Lys24340Glu)
c.73015A>G (p.Lys24339Glu)
c.70057A>G (p.Lys23353Glu)
c.51673A>G (p.Lys17225Glu)
c.73168A>G (p.Lys24390Glu)
c.73165A>G (p.Lys24389Glu)
c.72598A>G (p.Lys24200Glu)
c.69940A>G (p.Lys23314Glu)
c.69859A>G (p.Lys23287Glu)
c.51622A>G (p.Lys17208Glu)
c.41476A>G (p.Lys13826Glu)
 dbSNP gnomAD v4
2g.178567405T>GCA349601406TTN,TTN-AS1c.71023A>C (p.Lys23675Gln)
c.52108A>C (p.Lys17370Gln)
c.51907A>C (p.Lys17303Gln)
c.51532A>C (p.Lys17178Gln)
c.78727A>C (p.Lys26243Gln)
c.73804A>C (p.Lys24602Gln)
n.447-3895T>G
n.2044-15167T>G
c.77824A>C (p.Lys25942Gln)
c.51718A>C (p.Lys17240Gln)
c.51577A>C (p.Lys17193Gln)
c.77620A>C (p.Lys25874Gln)
c.73018A>C (p.Lys24340Gln)
c.73015A>C (p.Lys24339Gln)
c.70057A>C (p.Lys23353Gln)
c.51673A>C (p.Lys17225Gln)
c.73168A>C (p.Lys24390Gln)
c.73165A>C (p.Lys24389Gln)
c.72598A>C (p.Lys24200Gln)
c.69940A>C (p.Lys23314Gln)
c.69859A>C (p.Lys23287Gln)
c.51622A>C (p.Lys17208Gln)
c.41476A>C (p.Lys13826Gln)
2g.178567405T=CA1310529898TTN,TTN-AS1c.71023A= (p.Lys23675=)
c.52108A= (p.Lys17370=)
c.51907A= (p.Lys17303=)
c.51532A= (p.Lys17178=)
c.78727A= (p.Lys26243=)
c.73804A= (p.Lys24602=)
n.447-3895T=
n.2044-15167T=
c.77824A= (p.Lys25942=)
c.51718A= (p.Lys17240=)
c.51577A= (p.Lys17193=)
c.77620A= (p.Lys25874=)
c.73018A= (p.Lys24340=)
c.73015A= (p.Lys24339=)
c.70057A= (p.Lys23353=)
c.51673A= (p.Lys17225=)
c.73168A= (p.Lys24390=)
c.73165A= (p.Lys24389=)
c.72598A= (p.Lys24200=)
c.69940A= (p.Lys23314=)
c.69859A= (p.Lys23287=)
c.51622A= (p.Lys17208=)
c.41476A= (p.Lys13826=)
2g.178567406T>ACA430252748TTN,TTN-AS1c.71022A>T (p.Ile23674=)
c.52107A>T (p.Ile17369=)
c.51906A>T (p.Ile17302=)
c.51531A>T (p.Ile17177=)
c.78726A>T (p.Ile26242=)
c.73803A>T (p.Ile24601=)
n.447-3894T>A
n.2044-15166T>A
c.77823A>T (p.Ile25941=)
c.51717A>T (p.Ile17239=)
c.51576A>T (p.Ile17192=)
c.77619A>T (p.Ile25873=)
c.73017A>T (p.Ile24339=)
c.73014A>T (p.Ile24338=)
c.70056A>T (p.Ile23352=)
c.51672A>T (p.Ile17224=)
c.73167A>T (p.Ile24389=)
c.73164A>T (p.Ile24388=)
c.72597A>T (p.Ile24199=)
c.69939A>T (p.Ile23313=)
c.69858A>T (p.Ile23286=)
c.51621A>T (p.Ile17207=)
c.41475A>T (p.Ile13825=)
2g.178567406T>CCA349601408TTN,TTN-AS1c.71022A>G (p.Ile23674Met)
c.52107A>G (p.Ile17369Met)
c.51906A>G (p.Ile17302Met)
c.51531A>G (p.Ile17177Met)
c.78726A>G (p.Ile26242Met)
c.73803A>G (p.Ile24601Met)
n.447-3894T>C
n.2044-15166T>C
c.77823A>G (p.Ile25941Met)
c.51717A>G (p.Ile17239Met)
c.51576A>G (p.Ile17192Met)
c.77619A>G (p.Ile25873Met)
c.73017A>G (p.Ile24339Met)
c.73014A>G (p.Ile24338Met)
c.70056A>G (p.Ile23352Met)
c.51672A>G (p.Ile17224Met)
c.73167A>G (p.Ile24389Met)
c.73164A>G (p.Ile24388Met)
c.72597A>G (p.Ile24199Met)
c.69939A>G (p.Ile23313Met)
c.69858A>G (p.Ile23286Met)
c.51621A>G (p.Ile17207Met)
c.41475A>G (p.Ile13825Met)
2g.178567406T>GCA430252747TTN,TTN-AS1c.71022A>C (p.Ile23674=)
c.52107A>C (p.Ile17369=)
c.51906A>C (p.Ile17302=)
c.51531A>C (p.Ile17177=)
c.78726A>C (p.Ile26242=)
c.73803A>C (p.Ile24601=)
n.447-3894T>G
n.2044-15166T>G
c.77823A>C (p.Ile25941=)
c.51717A>C (p.Ile17239=)
c.51576A>C (p.Ile17192=)
c.77619A>C (p.Ile25873=)
c.73017A>C (p.Ile24339=)
c.73014A>C (p.Ile24338=)
c.70056A>C (p.Ile23352=)
c.51672A>C (p.Ile17224=)
c.73167A>C (p.Ile24389=)
c.73164A>C (p.Ile24388=)
c.72597A>C (p.Ile24199=)
c.69939A>C (p.Ile23313=)
c.69858A>C (p.Ile23286=)
c.51621A>C (p.Ile17207=)
c.41475A>C (p.Ile13825=)
2g.178567407A>CCA349601410TTN,TTN-AS1c.71021T>G (p.Ile23674Arg)
c.52106T>G (p.Ile17369Arg)
c.51905T>G (p.Ile17302Arg)
c.51530T>G (p.Ile17177Arg)
c.78725T>G (p.Ile26242Arg)
c.73802T>G (p.Ile24601Arg)
n.447-3893A>C
n.2044-15165A>C
c.77822T>G (p.Ile25941Arg)
c.51716T>G (p.Ile17239Arg)
c.51575T>G (p.Ile17192Arg)
c.77618T>G (p.Ile25873Arg)
c.73016T>G (p.Ile24339Arg)
c.73013T>G (p.Ile24338Arg)
c.70055T>G (p.Ile23352Arg)
c.51671T>G (p.Ile17224Arg)
c.73166T>G (p.Ile24389Arg)
c.73163T>G (p.Ile24388Arg)
c.72596T>G (p.Ile24199Arg)
c.69938T>G (p.Ile23313Arg)
c.69857T>G (p.Ile23286Arg)
c.51620T>G (p.Ile17207Arg)
c.41474T>G (p.Ile13825Arg)
2g.178567407A>GCA349601412TTN,TTN-AS1c.71021T>C (p.Ile23674Thr)
c.52106T>C (p.Ile17369Thr)
c.51905T>C (p.Ile17302Thr)
c.51530T>C (p.Ile17177Thr)
c.78725T>C (p.Ile26242Thr)
c.73802T>C (p.Ile24601Thr)
n.447-3893A>G
n.2044-15165A>G
c.77822T>C (p.Ile25941Thr)
c.51716T>C (p.Ile17239Thr)
c.51575T>C (p.Ile17192Thr)
c.77618T>C (p.Ile25873Thr)
c.73016T>C (p.Ile24339Thr)
c.73013T>C (p.Ile24338Thr)
c.70055T>C (p.Ile23352Thr)
c.51671T>C (p.Ile17224Thr)
c.73166T>C (p.Ile24389Thr)
c.73163T>C (p.Ile24388Thr)
c.72596T>C (p.Ile24199Thr)
c.69938T>C (p.Ile23313Thr)
c.69857T>C (p.Ile23286Thr)
c.51620T>C (p.Ile17207Thr)
c.41474T>C (p.Ile13825Thr)
 gnomAD v4
2g.178567407A>TCA349601413TTN,TTN-AS1c.71021T>A (p.Ile23674Lys)
c.52106T>A (p.Ile17369Lys)
c.51905T>A (p.Ile17302Lys)
c.51530T>A (p.Ile17177Lys)
c.78725T>A (p.Ile26242Lys)
c.73802T>A (p.Ile24601Lys)
n.447-3893A>T
n.2044-15165A>T
c.77822T>A (p.Ile25941Lys)
c.51716T>A (p.Ile17239Lys)
c.51575T>A (p.Ile17192Lys)
c.77618T>A (p.Ile25873Lys)
c.73016T>A (p.Ile24339Lys)
c.73013T>A (p.Ile24338Lys)
c.70055T>A (p.Ile23352Lys)
c.51671T>A (p.Ile17224Lys)
c.73166T>A (p.Ile24389Lys)
c.73163T>A (p.Ile24388Lys)
c.72596T>A (p.Ile24199Lys)
c.69938T>A (p.Ile23313Lys)
c.69857T>A (p.Ile23286Lys)
c.51620T>A (p.Ile17207Lys)
c.41474T>A (p.Ile13825Lys)
2g.178567408T>ACA349601415TTN,TTN-AS1c.71020A>T (p.Ile23674Leu)
c.52105A>T (p.Ile17369Leu)
c.51904A>T (p.Ile17302Leu)
c.51529A>T (p.Ile17177Leu)
c.78724A>T (p.Ile26242Leu)
c.73801A>T (p.Ile24601Leu)
n.447-3892T>A
n.2044-15164T>A
c.77821A>T (p.Ile25941Leu)
c.51715A>T (p.Ile17239Leu)
c.51574A>T (p.Ile17192Leu)
c.77617A>T (p.Ile25873Leu)
c.73015A>T (p.Ile24339Leu)
c.73012A>T (p.Ile24338Leu)
c.70054A>T (p.Ile23352Leu)
c.51670A>T (p.Ile17224Leu)
c.73165A>T (p.Ile24389Leu)
c.73162A>T (p.Ile24388Leu)
c.72595A>T (p.Ile24199Leu)
c.69937A>T (p.Ile23313Leu)
c.69856A>T (p.Ile23286Leu)
c.51619A>T (p.Ile17207Leu)
c.41473A>T (p.Ile13825Leu)
2g.178567408T>CCA60991194TTN,TTN-AS1c.71020A>G (p.Ile23674Val)
c.52105A>G (p.Ile17369Val)
c.51904A>G (p.Ile17302Val)
c.51529A>G (p.Ile17177Val)
c.78724A>G (p.Ile26242Val)
c.73801A>G (p.Ile24601Val)
n.447-3892T>C
n.2044-15164T>C
c.77821A>G (p.Ile25941Val)
c.51715A>G (p.Ile17239Val)
c.51574A>G (p.Ile17192Val)
c.77617A>G (p.Ile25873Val)
c.73015A>G (p.Ile24339Val)
c.73012A>G (p.Ile24338Val)
c.70054A>G (p.Ile23352Val)
c.51670A>G (p.Ile17224Val)
c.73165A>G (p.Ile24389Val)
c.73162A>G (p.Ile24388Val)
c.72595A>G (p.Ile24199Val)
c.69937A>G (p.Ile23313Val)
c.69856A>G (p.Ile23286Val)
c.51619A>G (p.Ile17207Val)
c.41473A>G (p.Ile13825Val)
 dbSNP gnomAD v4
2g.178567408T>GCA349601417TTN,TTN-AS1c.71020A>C (p.Ile23674Leu)
c.52105A>C (p.Ile17369Leu)
c.51904A>C (p.Ile17302Leu)
c.51529A>C (p.Ile17177Leu)
c.78724A>C (p.Ile26242Leu)
c.73801A>C (p.Ile24601Leu)
n.447-3892T>G
n.2044-15164T>G
c.77821A>C (p.Ile25941Leu)
c.51715A>C (p.Ile17239Leu)
c.51574A>C (p.Ile17192Leu)
c.77617A>C (p.Ile25873Leu)
c.73015A>C (p.Ile24339Leu)
c.73012A>C (p.Ile24338Leu)
c.70054A>C (p.Ile23352Leu)
c.51670A>C (p.Ile17224Leu)
c.73165A>C (p.Ile24389Leu)
c.73162A>C (p.Ile24388Leu)
c.72595A>C (p.Ile24199Leu)
c.69937A>C (p.Ile23313Leu)
c.69856A>C (p.Ile23286Leu)
c.51619A>C (p.Ile17207Leu)
c.41473A>C (p.Ile13825Leu)
2g.178567408T=CA1310529899TTN,TTN-AS1c.71020A= (p.Ile23674=)
c.52105A= (p.Ile17369=)
c.51904A= (p.Ile17302=)
c.51529A= (p.Ile17177=)
c.78724A= (p.Ile26242=)
c.73801A= (p.Ile24601=)
n.447-3892T=
n.2044-15164T=
c.77821A= (p.Ile25941=)
c.51715A= (p.Ile17239=)
c.51574A= (p.Ile17192=)
c.77617A= (p.Ile25873=)
c.73015A= (p.Ile24339=)
c.73012A= (p.Ile24338=)
c.70054A= (p.Ile23352=)
c.51670A= (p.Ile17224=)
c.73165A= (p.Ile24389=)
c.73162A= (p.Ile24388=)
c.72595A= (p.Ile24199=)
c.69937A= (p.Ile23313=)
c.69856A= (p.Ile23286=)
c.51619A= (p.Ile17207=)
c.41473A= (p.Ile13825=)
2g.178567409T>ACA349601419TTN,TTN-AS1c.71019A>T (p.Glu23673Asp)
c.52104A>T (p.Glu17368Asp)
c.51903A>T (p.Glu17301Asp)
c.51528A>T (p.Glu17176Asp)
c.78723A>T (p.Glu26241Asp)
c.73800A>T (p.Glu24600Asp)
n.447-3891T>A
n.2044-15163T>A
c.77820A>T (p.Glu25940Asp)
c.51714A>T (p.Glu17238Asp)
c.51573A>T (p.Glu17191Asp)
c.77616A>T (p.Glu25872Asp)
c.73014A>T (p.Glu24338Asp)
c.73011A>T (p.Glu24337Asp)
c.70053A>T (p.Glu23351Asp)
c.51669A>T (p.Glu17223Asp)
c.73164A>T (p.Glu24388Asp)
c.73161A>T (p.Glu24387Asp)
c.72594A>T (p.Glu24198Asp)
c.69936A>T (p.Glu23312Asp)
c.69855A>T (p.Glu23285Asp)
c.51618A>T (p.Glu17206Asp)
c.41472A>T (p.Glu13824Asp)
2g.178567409T>CCA430252753TTN,TTN-AS1c.71019A>G (p.Glu23673=)
c.52104A>G (p.Glu17368=)
c.51903A>G (p.Glu17301=)
c.51528A>G (p.Glu17176=)
c.78723A>G (p.Glu26241=)
c.73800A>G (p.Glu24600=)
n.447-3891T>C
n.2044-15163T>C
c.77820A>G (p.Glu25940=)
c.51714A>G (p.Glu17238=)
c.51573A>G (p.Glu17191=)
c.77616A>G (p.Glu25872=)
c.73014A>G (p.Glu24338=)
c.73011A>G (p.Glu24337=)
c.70053A>G (p.Glu23351=)
c.51669A>G (p.Glu17223=)
c.73164A>G (p.Glu24388=)
c.73161A>G (p.Glu24387=)
c.72594A>G (p.Glu24198=)
c.69936A>G (p.Glu23312=)
c.69855A>G (p.Glu23285=)
c.51618A>G (p.Glu17206=)
c.41472A>G (p.Glu13824=)
2g.178567409T>GCA349601421TTN,TTN-AS1c.71019A>C (p.Glu23673Asp)
c.52104A>C (p.Glu17368Asp)
c.51903A>C (p.Glu17301Asp)
c.51528A>C (p.Glu17176Asp)
c.78723A>C (p.Glu26241Asp)
c.73800A>C (p.Glu24600Asp)
n.447-3891T>G
n.2044-15163T>G
c.77820A>C (p.Glu25940Asp)
c.51714A>C (p.Glu17238Asp)
c.51573A>C (p.Glu17191Asp)
c.77616A>C (p.Glu25872Asp)
c.73014A>C (p.Glu24338Asp)
c.73011A>C (p.Glu24337Asp)
c.70053A>C (p.Glu23351Asp)
c.51669A>C (p.Glu17223Asp)
c.73164A>C (p.Glu24388Asp)
c.73161A>C (p.Glu24387Asp)
c.72594A>C (p.Glu24198Asp)
c.69936A>C (p.Glu23312Asp)
c.69855A>C (p.Glu23285Asp)
c.51618A>C (p.Glu17206Asp)
c.41472A>C (p.Glu13824Asp)

Number of alleles fetched