Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178618025A=CA1310550882TTN,TTN-AS1c.39622T= (p.Ser13208=)
c.20707T= (p.Ser6903=)
c.20506T= (p.Ser6836=)
c.20131T= (p.Ser6711=)
c.47326T= (p.Ser15776=)
c.42403T= (p.Ser14135=)
n.1605-1728A=
c.46423T= (p.Ser15475=)
c.20317T= (p.Ser6773=)
c.20176T= (p.Ser6726=)
c.46219T= (p.Ser15407=)
c.41617T= (p.Ser13873=)
c.41614T= (p.Ser13872=)
c.38656T= (p.Ser12886=)
c.20272T= (p.Ser6758=)
c.41767T= (p.Ser13923=)
c.41764T= (p.Ser13922=)
c.41197T= (p.Ser13733=)
c.38539T= (p.Ser12847=)
c.38458T= (p.Ser12820=)
c.20221T= (p.Ser6741=)
c.10075T= (p.Ser3359=)
2g.178618025A>CCA349617950TTN,TTN-AS1c.39622T>G (p.Ser13208Ala)
c.20707T>G (p.Ser6903Ala)
c.20506T>G (p.Ser6836Ala)
c.20131T>G (p.Ser6711Ala)
c.47326T>G (p.Ser15776Ala)
c.42403T>G (p.Ser14135Ala)
n.1605-1728A>C
c.46423T>G (p.Ser15475Ala)
c.20317T>G (p.Ser6773Ala)
c.20176T>G (p.Ser6726Ala)
c.46219T>G (p.Ser15407Ala)
c.41617T>G (p.Ser13873Ala)
c.41614T>G (p.Ser13872Ala)
c.38656T>G (p.Ser12886Ala)
c.20272T>G (p.Ser6758Ala)
c.41767T>G (p.Ser13923Ala)
c.41764T>G (p.Ser13922Ala)
c.41197T>G (p.Ser13733Ala)
c.38539T>G (p.Ser12847Ala)
c.38458T>G (p.Ser12820Ala)
c.20221T>G (p.Ser6741Ala)
c.10075T>G (p.Ser3359Ala)
2g.178618025A>GCA349617956TTN,TTN-AS1c.39622T>C (p.Ser13208Pro)
c.20707T>C (p.Ser6903Pro)
c.20506T>C (p.Ser6836Pro)
c.20131T>C (p.Ser6711Pro)
c.47326T>C (p.Ser15776Pro)
c.42403T>C (p.Ser14135Pro)
n.1605-1728A>G
c.46423T>C (p.Ser15475Pro)
c.20317T>C (p.Ser6773Pro)
c.20176T>C (p.Ser6726Pro)
c.46219T>C (p.Ser15407Pro)
c.41617T>C (p.Ser13873Pro)
c.41614T>C (p.Ser13872Pro)
c.38656T>C (p.Ser12886Pro)
c.20272T>C (p.Ser6758Pro)
c.41767T>C (p.Ser13923Pro)
c.41764T>C (p.Ser13922Pro)
c.41197T>C (p.Ser13733Pro)
c.38539T>C (p.Ser12847Pro)
c.38458T>C (p.Ser12820Pro)
c.20221T>C (p.Ser6741Pro)
c.10075T>C (p.Ser3359Pro)
 dbSNP
2g.178618025A>TCA349617958TTN,TTN-AS1c.39622T>A (p.Ser13208Thr)
c.20707T>A (p.Ser6903Thr)
c.20506T>A (p.Ser6836Thr)
c.20131T>A (p.Ser6711Thr)
c.47326T>A (p.Ser15776Thr)
c.42403T>A (p.Ser14135Thr)
n.1605-1728A>T
c.46423T>A (p.Ser15475Thr)
c.20317T>A (p.Ser6773Thr)
c.20176T>A (p.Ser6726Thr)
c.46219T>A (p.Ser15407Thr)
c.41617T>A (p.Ser13873Thr)
c.41614T>A (p.Ser13872Thr)
c.38656T>A (p.Ser12886Thr)
c.20272T>A (p.Ser6758Thr)
c.41767T>A (p.Ser13923Thr)
c.41764T>A (p.Ser13922Thr)
c.41197T>A (p.Ser13733Thr)
c.38539T>A (p.Ser12847Thr)
c.38458T>A (p.Ser12820Thr)
c.20221T>A (p.Ser6741Thr)
c.10075T>A (p.Ser3359Thr)
2g.178618026G>ACA430274349TTN,TTN-AS1c.39621C>T (p.Val13207=)
c.20706C>T (p.Val6902=)
c.20505C>T (p.Val6835=)
c.20130C>T (p.Val6710=)
c.47325C>T (p.Val15775=)
c.42402C>T (p.Val14134=)
n.1605-1727G>A
c.46422C>T (p.Val15474=)
c.20316C>T (p.Val6772=)
c.20175C>T (p.Val6725=)
c.46218C>T (p.Val15406=)
c.41616C>T (p.Val13872=)
c.41613C>T (p.Val13871=)
c.38655C>T (p.Val12885=)
c.20271C>T (p.Val6757=)
c.41766C>T (p.Val13922=)
c.41763C>T (p.Val13921=)
c.41196C>T (p.Val13732=)
c.38538C>T (p.Val12846=)
c.38457C>T (p.Val12819=)
c.20220C>T (p.Val6740=)
c.10074C>T (p.Val3358=)
2g.178618026G>CCA430274352TTN,TTN-AS1c.39621C>G (p.Val13207=)
c.20706C>G (p.Val6902=)
c.20505C>G (p.Val6835=)
c.20130C>G (p.Val6710=)
c.47325C>G (p.Val15775=)
c.42402C>G (p.Val14134=)
n.1605-1727G>C
c.46422C>G (p.Val15474=)
c.20316C>G (p.Val6772=)
c.20175C>G (p.Val6725=)
c.46218C>G (p.Val15406=)
c.41616C>G (p.Val13872=)
c.41613C>G (p.Val13871=)
c.38655C>G (p.Val12885=)
c.20271C>G (p.Val6757=)
c.41766C>G (p.Val13922=)
c.41763C>G (p.Val13921=)
c.41196C>G (p.Val13732=)
c.38538C>G (p.Val12846=)
c.38457C>G (p.Val12819=)
c.20220C>G (p.Val6740=)
c.10074C>G (p.Val3358=)
 COSMIC
2g.178618026G>TCA430274356TTN,TTN-AS1c.39621C>A (p.Val13207=)
c.20706C>A (p.Val6902=)
c.20505C>A (p.Val6835=)
c.20130C>A (p.Val6710=)
c.47325C>A (p.Val15775=)
c.42402C>A (p.Val14134=)
n.1605-1727G>T
c.46422C>A (p.Val15474=)
c.20316C>A (p.Val6772=)
c.20175C>A (p.Val6725=)
c.46218C>A (p.Val15406=)
c.41616C>A (p.Val13872=)
c.41613C>A (p.Val13871=)
c.38655C>A (p.Val12885=)
c.20271C>A (p.Val6757=)
c.41766C>A (p.Val13922=)
c.41763C>A (p.Val13921=)
c.41196C>A (p.Val13732=)
c.38538C>A (p.Val12846=)
c.38457C>A (p.Val12819=)
c.20220C>A (p.Val6740=)
c.10074C>A (p.Val3358=)
2g.178618027A>CCA349617961TTN,TTN-AS1c.39620T>G (p.Val13207Gly)
c.20705T>G (p.Val6902Gly)
c.20504T>G (p.Val6835Gly)
c.20129T>G (p.Val6710Gly)
c.47324T>G (p.Val15775Gly)
c.42401T>G (p.Val14134Gly)
n.1605-1726A>C
c.46421T>G (p.Val15474Gly)
c.20315T>G (p.Val6772Gly)
c.20174T>G (p.Val6725Gly)
c.46217T>G (p.Val15406Gly)
c.41615T>G (p.Val13872Gly)
c.41612T>G (p.Val13871Gly)
c.38654T>G (p.Val12885Gly)
c.20270T>G (p.Val6757Gly)
c.41765T>G (p.Val13922Gly)
c.41762T>G (p.Val13921Gly)
c.41195T>G (p.Val13732Gly)
c.38537T>G (p.Val12846Gly)
c.38456T>G (p.Val12819Gly)
c.20219T>G (p.Val6740Gly)
c.10073T>G (p.Val3358Gly)
2g.178618027A>GCA349617962TTN,TTN-AS1c.39620T>C (p.Val13207Ala)
c.20705T>C (p.Val6902Ala)
c.20504T>C (p.Val6835Ala)
c.20129T>C (p.Val6710Ala)
c.47324T>C (p.Val15775Ala)
c.42401T>C (p.Val14134Ala)
n.1605-1726A>G
c.46421T>C (p.Val15474Ala)
c.20315T>C (p.Val6772Ala)
c.20174T>C (p.Val6725Ala)
c.46217T>C (p.Val15406Ala)
c.41615T>C (p.Val13872Ala)
c.41612T>C (p.Val13871Ala)
c.38654T>C (p.Val12885Ala)
c.20270T>C (p.Val6757Ala)
c.41765T>C (p.Val13922Ala)
c.41762T>C (p.Val13921Ala)
c.41195T>C (p.Val13732Ala)
c.38537T>C (p.Val12846Ala)
c.38456T>C (p.Val12819Ala)
c.20219T>C (p.Val6740Ala)
c.10073T>C (p.Val3358Ala)
2g.178618027A>TCA349617965TTN,TTN-AS1c.39620T>A (p.Val13207Asp)
c.20705T>A (p.Val6902Asp)
c.20504T>A (p.Val6835Asp)
c.20129T>A (p.Val6710Asp)
c.47324T>A (p.Val15775Asp)
c.42401T>A (p.Val14134Asp)
n.1605-1726A>T
c.46421T>A (p.Val15474Asp)
c.20315T>A (p.Val6772Asp)
c.20174T>A (p.Val6725Asp)
c.46217T>A (p.Val15406Asp)
c.41615T>A (p.Val13872Asp)
c.41612T>A (p.Val13871Asp)
c.38654T>A (p.Val12885Asp)
c.20270T>A (p.Val6757Asp)
c.41765T>A (p.Val13922Asp)
c.41762T>A (p.Val13921Asp)
c.41195T>A (p.Val13732Asp)
c.38537T>A (p.Val12846Asp)
c.38456T>A (p.Val12819Asp)
c.20219T>A (p.Val6740Asp)
c.10073T>A (p.Val3358Asp)
2g.178618028C>ACA349617969TTN,TTN-AS1c.39619G>T (p.Val13207Phe)
c.20704G>T (p.Val6902Phe)
c.20503G>T (p.Val6835Phe)
c.20128G>T (p.Val6710Phe)
c.47323G>T (p.Val15775Phe)
c.42400G>T (p.Val14134Phe)
n.1605-1725C>A
c.46420G>T (p.Val15474Phe)
c.20314G>T (p.Val6772Phe)
c.20173G>T (p.Val6725Phe)
c.46216G>T (p.Val15406Phe)
c.41614G>T (p.Val13872Phe)
c.41611G>T (p.Val13871Phe)
c.38653G>T (p.Val12885Phe)
c.20269G>T (p.Val6757Phe)
c.41764G>T (p.Val13922Phe)
c.41761G>T (p.Val13921Phe)
c.41194G>T (p.Val13732Phe)
c.38536G>T (p.Val12846Phe)
c.38455G>T (p.Val12819Phe)
c.20218G>T (p.Val6740Phe)
c.10072G>T (p.Val3358Phe)
2g.178618028C>GCA349617972TTN,TTN-AS1c.39619G>C (p.Val13207Leu)
c.20704G>C (p.Val6902Leu)
c.20503G>C (p.Val6835Leu)
c.20128G>C (p.Val6710Leu)
c.47323G>C (p.Val15775Leu)
c.42400G>C (p.Val14134Leu)
n.1605-1725C>G
c.46420G>C (p.Val15474Leu)
c.20314G>C (p.Val6772Leu)
c.20173G>C (p.Val6725Leu)
c.46216G>C (p.Val15406Leu)
c.41614G>C (p.Val13872Leu)
c.41611G>C (p.Val13871Leu)
c.38653G>C (p.Val12885Leu)
c.20269G>C (p.Val6757Leu)
c.41764G>C (p.Val13922Leu)
c.41761G>C (p.Val13921Leu)
c.41194G>C (p.Val13732Leu)
c.38536G>C (p.Val12846Leu)
c.38455G>C (p.Val12819Leu)
c.20218G>C (p.Val6740Leu)
c.10072G>C (p.Val3358Leu)
2g.178618028C>TCA349617971TTN,TTN-AS1c.39619G>A (p.Val13207Ile)
c.20704G>A (p.Val6902Ile)
c.20503G>A (p.Val6835Ile)
c.20128G>A (p.Val6710Ile)
c.47323G>A (p.Val15775Ile)
c.42400G>A (p.Val14134Ile)
n.1605-1725C>T
c.46420G>A (p.Val15474Ile)
c.20314G>A (p.Val6772Ile)
c.20173G>A (p.Val6725Ile)
c.46216G>A (p.Val15406Ile)
c.41614G>A (p.Val13872Ile)
c.41611G>A (p.Val13871Ile)
c.38653G>A (p.Val12885Ile)
c.20269G>A (p.Val6757Ile)
c.41764G>A (p.Val13922Ile)
c.41761G>A (p.Val13921Ile)
c.41194G>A (p.Val13732Ile)
c.38536G>A (p.Val12846Ile)
c.38455G>A (p.Val12819Ile)
c.20218G>A (p.Val6740Ile)
c.10072G>A (p.Val3358Ile)
2g.178618029A=CA1310550883TTN,TTN-AS1c.39618T= (p.Gly13206=)
c.20703T= (p.Gly6901=)
c.20502T= (p.Gly6834=)
c.20127T= (p.Gly6709=)
c.47322T= (p.Gly15774=)
c.42399T= (p.Gly14133=)
n.1605-1724A=
c.46419T= (p.Gly15473=)
c.20313T= (p.Gly6771=)
c.20172T= (p.Gly6724=)
c.46215T= (p.Gly15405=)
c.41613T= (p.Gly13871=)
c.41610T= (p.Gly13870=)
c.38652T= (p.Gly12884=)
c.20268T= (p.Gly6756=)
c.41763T= (p.Gly13921=)
c.41760T= (p.Gly13920=)
c.41193T= (p.Gly13731=)
c.38535T= (p.Gly12845=)
c.38454T= (p.Gly12818=)
c.20217T= (p.Gly6739=)
c.10071T= (p.Gly3357=)
2g.178618029A>CCA430274367TTN,TTN-AS1c.39618T>G (p.Gly13206=)
c.20703T>G (p.Gly6901=)
c.20502T>G (p.Gly6834=)
c.20127T>G (p.Gly6709=)
c.47322T>G (p.Gly15774=)
c.42399T>G (p.Gly14133=)
n.1605-1724A>C
c.46419T>G (p.Gly15473=)
c.20313T>G (p.Gly6771=)
c.20172T>G (p.Gly6724=)
c.46215T>G (p.Gly15405=)
c.41613T>G (p.Gly13871=)
c.41610T>G (p.Gly13870=)
c.38652T>G (p.Gly12884=)
c.20268T>G (p.Gly6756=)
c.41763T>G (p.Gly13921=)
c.41760T>G (p.Gly13920=)
c.41193T>G (p.Gly13731=)
c.38535T>G (p.Gly12845=)
c.38454T>G (p.Gly12818=)
c.20217T>G (p.Gly6739=)
c.10071T>G (p.Gly3357=)
2g.178618029A>GCA430274370TTN,TTN-AS1c.39618T>C (p.Gly13206=)
c.20703T>C (p.Gly6901=)
c.20502T>C (p.Gly6834=)
c.20127T>C (p.Gly6709=)
c.47322T>C (p.Gly15774=)
c.42399T>C (p.Gly14133=)
n.1605-1724A>G
c.46419T>C (p.Gly15473=)
c.20313T>C (p.Gly6771=)
c.20172T>C (p.Gly6724=)
c.46215T>C (p.Gly15405=)
c.41613T>C (p.Gly13871=)
c.41610T>C (p.Gly13870=)
c.38652T>C (p.Gly12884=)
c.20268T>C (p.Gly6756=)
c.41763T>C (p.Gly13921=)
c.41760T>C (p.Gly13920=)
c.41193T>C (p.Gly13731=)
c.38535T>C (p.Gly12845=)
c.38454T>C (p.Gly12818=)
c.20217T>C (p.Gly6739=)
c.10071T>C (p.Gly3357=)
 ClinVar dbSNP gnomAD v4
2g.178618029A>TCA430274369TTN,TTN-AS1c.39618T>A (p.Gly13206=)
c.20703T>A (p.Gly6901=)
c.20502T>A (p.Gly6834=)
c.20127T>A (p.Gly6709=)
c.47322T>A (p.Gly15774=)
c.42399T>A (p.Gly14133=)
n.1605-1724A>T
c.46419T>A (p.Gly15473=)
c.20313T>A (p.Gly6771=)
c.20172T>A (p.Gly6724=)
c.46215T>A (p.Gly15405=)
c.41613T>A (p.Gly13871=)
c.41610T>A (p.Gly13870=)
c.38652T>A (p.Gly12884=)
c.20268T>A (p.Gly6756=)
c.41763T>A (p.Gly13921=)
c.41760T>A (p.Gly13920=)
c.41193T>A (p.Gly13731=)
c.38535T>A (p.Gly12845=)
c.38454T>A (p.Gly12818=)
c.20217T>A (p.Gly6739=)
c.10071T>A (p.Gly3357=)
2g.178618030C>ACA349617975TTN,TTN-AS1c.39617G>T (p.Gly13206Val)
c.20702G>T (p.Gly6901Val)
c.20501G>T (p.Gly6834Val)
c.20126G>T (p.Gly6709Val)
c.47321G>T (p.Gly15774Val)
c.42398G>T (p.Gly14133Val)
n.1605-1723C>A
c.46418G>T (p.Gly15473Val)
c.20312G>T (p.Gly6771Val)
c.20171G>T (p.Gly6724Val)
c.46214G>T (p.Gly15405Val)
c.41612G>T (p.Gly13871Val)
c.41609G>T (p.Gly13870Val)
c.38651G>T (p.Gly12884Val)
c.20267G>T (p.Gly6756Val)
c.41762G>T (p.Gly13921Val)
c.41759G>T (p.Gly13920Val)
c.41192G>T (p.Gly13731Val)
c.38534G>T (p.Gly12845Val)
c.38453G>T (p.Gly12818Val)
c.20216G>T (p.Gly6739Val)
c.10070G>T (p.Gly3357Val)
2g.178618030C>GCA349617987TTN,TTN-AS1c.39617G>C (p.Gly13206Ala)
c.20702G>C (p.Gly6901Ala)
c.20501G>C (p.Gly6834Ala)
c.20126G>C (p.Gly6709Ala)
c.47321G>C (p.Gly15774Ala)
c.42398G>C (p.Gly14133Ala)
n.1605-1723C>G
c.46418G>C (p.Gly15473Ala)
c.20312G>C (p.Gly6771Ala)
c.20171G>C (p.Gly6724Ala)
c.46214G>C (p.Gly15405Ala)
c.41612G>C (p.Gly13871Ala)
c.41609G>C (p.Gly13870Ala)
c.38651G>C (p.Gly12884Ala)
c.20267G>C (p.Gly6756Ala)
c.41762G>C (p.Gly13921Ala)
c.41759G>C (p.Gly13920Ala)
c.41192G>C (p.Gly13731Ala)
c.38534G>C (p.Gly12845Ala)
c.38453G>C (p.Gly12818Ala)
c.20216G>C (p.Gly6739Ala)
c.10070G>C (p.Gly3357Ala)
2g.178618030C>TCA349617977TTN,TTN-AS1c.39617G>A (p.Gly13206Asp)
c.20702G>A (p.Gly6901Asp)
c.20501G>A (p.Gly6834Asp)
c.20126G>A (p.Gly6709Asp)
c.47321G>A (p.Gly15774Asp)
c.42398G>A (p.Gly14133Asp)
n.1605-1723C>T
c.46418G>A (p.Gly15473Asp)
c.20312G>A (p.Gly6771Asp)
c.20171G>A (p.Gly6724Asp)
c.46214G>A (p.Gly15405Asp)
c.41612G>A (p.Gly13871Asp)
c.41609G>A (p.Gly13870Asp)
c.38651G>A (p.Gly12884Asp)
c.20267G>A (p.Gly6756Asp)
c.41762G>A (p.Gly13921Asp)
c.41759G>A (p.Gly13920Asp)
c.41192G>A (p.Gly13731Asp)
c.38534G>A (p.Gly12845Asp)
c.38453G>A (p.Gly12818Asp)
c.20216G>A (p.Gly6739Asp)
c.10070G>A (p.Gly3357Asp)
2g.178618031C>ACA349617989TTN,TTN-AS1c.39616G>T (p.Gly13206Cys)
c.20701G>T (p.Gly6901Cys)
c.20500G>T (p.Gly6834Cys)
c.20125G>T (p.Gly6709Cys)
c.47320G>T (p.Gly15774Cys)
c.42397G>T (p.Gly14133Cys)
n.1605-1722C>A
c.46417G>T (p.Gly15473Cys)
c.20311G>T (p.Gly6771Cys)
c.20170G>T (p.Gly6724Cys)
c.46213G>T (p.Gly15405Cys)
c.41611G>T (p.Gly13871Cys)
c.41608G>T (p.Gly13870Cys)
c.38650G>T (p.Gly12884Cys)
c.20266G>T (p.Gly6756Cys)
c.41761G>T (p.Gly13921Cys)
c.41758G>T (p.Gly13920Cys)
c.41191G>T (p.Gly13731Cys)
c.38533G>T (p.Gly12845Cys)
c.38452G>T (p.Gly12818Cys)
c.20215G>T (p.Gly6739Cys)
c.10069G>T (p.Gly3357Cys)
2g.178618031C>GCA349617990TTN,TTN-AS1c.39616G>C (p.Gly13206Arg)
c.20701G>C (p.Gly6901Arg)
c.20500G>C (p.Gly6834Arg)
c.20125G>C (p.Gly6709Arg)
c.47320G>C (p.Gly15774Arg)
c.42397G>C (p.Gly14133Arg)
n.1605-1722C>G
c.46417G>C (p.Gly15473Arg)
c.20311G>C (p.Gly6771Arg)
c.20170G>C (p.Gly6724Arg)
c.46213G>C (p.Gly15405Arg)
c.41611G>C (p.Gly13871Arg)
c.41608G>C (p.Gly13870Arg)
c.38650G>C (p.Gly12884Arg)
c.20266G>C (p.Gly6756Arg)
c.41761G>C (p.Gly13921Arg)
c.41758G>C (p.Gly13920Arg)
c.41191G>C (p.Gly13731Arg)
c.38533G>C (p.Gly12845Arg)
c.38452G>C (p.Gly12818Arg)
c.20215G>C (p.Gly6739Arg)
c.10069G>C (p.Gly3357Arg)
2g.178618031C>TCA349617993TTN,TTN-AS1c.39616G>A (p.Gly13206Ser)
c.20701G>A (p.Gly6901Ser)
c.20500G>A (p.Gly6834Ser)
c.20125G>A (p.Gly6709Ser)
c.47320G>A (p.Gly15774Ser)
c.42397G>A (p.Gly14133Ser)
n.1605-1722C>T
c.46417G>A (p.Gly15473Ser)
c.20311G>A (p.Gly6771Ser)
c.20170G>A (p.Gly6724Ser)
c.46213G>A (p.Gly15405Ser)
c.41611G>A (p.Gly13871Ser)
c.41608G>A (p.Gly13870Ser)
c.38650G>A (p.Gly12884Ser)
c.20266G>A (p.Gly6756Ser)
c.41761G>A (p.Gly13921Ser)
c.41758G>A (p.Gly13920Ser)
c.41191G>A (p.Gly13731Ser)
c.38533G>A (p.Gly12845Ser)
c.38452G>A (p.Gly12818Ser)
c.20215G>A (p.Gly6739Ser)
c.10069G>A (p.Gly3357Ser)
2g.178618032A>CCA349617996TTN,TTN-AS1c.39615T>G (p.Phe13205Leu)
c.20700T>G (p.Phe6900Leu)
c.20499T>G (p.Phe6833Leu)
c.20124T>G (p.Phe6708Leu)
c.47319T>G (p.Phe15773Leu)
c.42396T>G (p.Phe14132Leu)
n.1605-1721A>C
c.46416T>G (p.Phe15472Leu)
c.20310T>G (p.Phe6770Leu)
c.20169T>G (p.Phe6723Leu)
c.46212T>G (p.Phe15404Leu)
c.41610T>G (p.Phe13870Leu)
c.41607T>G (p.Phe13869Leu)
c.38649T>G (p.Phe12883Leu)
c.20265T>G (p.Phe6755Leu)
c.41760T>G (p.Phe13920Leu)
c.41757T>G (p.Phe13919Leu)
c.41190T>G (p.Phe13730Leu)
c.38532T>G (p.Phe12844Leu)
c.38451T>G (p.Phe12817Leu)
c.20214T>G (p.Phe6738Leu)
c.10068T>G (p.Phe3356Leu)
2g.178618032A>GCA430274382TTN,TTN-AS1c.39615T>C (p.Phe13205=)
c.20700T>C (p.Phe6900=)
c.20499T>C (p.Phe6833=)
c.20124T>C (p.Phe6708=)
c.47319T>C (p.Phe15773=)
c.42396T>C (p.Phe14132=)
n.1605-1721A>G
c.46416T>C (p.Phe15472=)
c.20310T>C (p.Phe6770=)
c.20169T>C (p.Phe6723=)
c.46212T>C (p.Phe15404=)
c.41610T>C (p.Phe13870=)
c.41607T>C (p.Phe13869=)
c.38649T>C (p.Phe12883=)
c.20265T>C (p.Phe6755=)
c.41760T>C (p.Phe13920=)
c.41757T>C (p.Phe13919=)
c.41190T>C (p.Phe13730=)
c.38532T>C (p.Phe12844=)
c.38451T>C (p.Phe12817=)
c.20214T>C (p.Phe6738=)
c.10068T>C (p.Phe3356=)
2g.178618032A>TCA349617999TTN,TTN-AS1c.39615T>A (p.Phe13205Leu)
c.20700T>A (p.Phe6900Leu)
c.20499T>A (p.Phe6833Leu)
c.20124T>A (p.Phe6708Leu)
c.47319T>A (p.Phe15773Leu)
c.42396T>A (p.Phe14132Leu)
n.1605-1721A>T
c.46416T>A (p.Phe15472Leu)
c.20310T>A (p.Phe6770Leu)
c.20169T>A (p.Phe6723Leu)
c.46212T>A (p.Phe15404Leu)
c.41610T>A (p.Phe13870Leu)
c.41607T>A (p.Phe13869Leu)
c.38649T>A (p.Phe12883Leu)
c.20265T>A (p.Phe6755Leu)
c.41760T>A (p.Phe13920Leu)
c.41757T>A (p.Phe13919Leu)
c.41190T>A (p.Phe13730Leu)
c.38532T>A (p.Phe12844Leu)
c.38451T>A (p.Phe12817Leu)
c.20214T>A (p.Phe6738Leu)
c.10068T>A (p.Phe3356Leu)
2g.178618033A>CCA349618003TTN,TTN-AS1c.39614T>G (p.Phe13205Cys)
c.20699T>G (p.Phe6900Cys)
c.20498T>G (p.Phe6833Cys)
c.20123T>G (p.Phe6708Cys)
c.47318T>G (p.Phe15773Cys)
c.42395T>G (p.Phe14132Cys)
n.1605-1720A>C
c.46415T>G (p.Phe15472Cys)
c.20309T>G (p.Phe6770Cys)
c.20168T>G (p.Phe6723Cys)
c.46211T>G (p.Phe15404Cys)
c.41609T>G (p.Phe13870Cys)
c.41606T>G (p.Phe13869Cys)
c.38648T>G (p.Phe12883Cys)
c.20264T>G (p.Phe6755Cys)
c.41759T>G (p.Phe13920Cys)
c.41756T>G (p.Phe13919Cys)
c.41189T>G (p.Phe13730Cys)
c.38531T>G (p.Phe12844Cys)
c.38450T>G (p.Phe12817Cys)
c.20213T>G (p.Phe6738Cys)
c.10067T>G (p.Phe3356Cys)
2g.178618033A>GCA349618006TTN,TTN-AS1c.39614T>C (p.Phe13205Ser)
c.20699T>C (p.Phe6900Ser)
c.20498T>C (p.Phe6833Ser)
c.20123T>C (p.Phe6708Ser)
c.47318T>C (p.Phe15773Ser)
c.42395T>C (p.Phe14132Ser)
n.1605-1720A>G
c.46415T>C (p.Phe15472Ser)
c.20309T>C (p.Phe6770Ser)
c.20168T>C (p.Phe6723Ser)
c.46211T>C (p.Phe15404Ser)
c.41609T>C (p.Phe13870Ser)
c.41606T>C (p.Phe13869Ser)
c.38648T>C (p.Phe12883Ser)
c.20264T>C (p.Phe6755Ser)
c.41759T>C (p.Phe13920Ser)
c.41756T>C (p.Phe13919Ser)
c.41189T>C (p.Phe13730Ser)
c.38531T>C (p.Phe12844Ser)
c.38450T>C (p.Phe12817Ser)
c.20213T>C (p.Phe6738Ser)
c.10067T>C (p.Phe3356Ser)
2g.178618033A>TCA349618009TTN,TTN-AS1c.39614T>A (p.Phe13205Tyr)
c.20699T>A (p.Phe6900Tyr)
c.20498T>A (p.Phe6833Tyr)
c.20123T>A (p.Phe6708Tyr)
c.47318T>A (p.Phe15773Tyr)
c.42395T>A (p.Phe14132Tyr)
n.1605-1720A>T
c.46415T>A (p.Phe15472Tyr)
c.20309T>A (p.Phe6770Tyr)
c.20168T>A (p.Phe6723Tyr)
c.46211T>A (p.Phe15404Tyr)
c.41609T>A (p.Phe13870Tyr)
c.41606T>A (p.Phe13869Tyr)
c.38648T>A (p.Phe12883Tyr)
c.20264T>A (p.Phe6755Tyr)
c.41759T>A (p.Phe13920Tyr)
c.41756T>A (p.Phe13919Tyr)
c.41189T>A (p.Phe13730Tyr)
c.38531T>A (p.Phe12844Tyr)
c.38450T>A (p.Phe12817Tyr)
c.20213T>A (p.Phe6738Tyr)
c.10067T>A (p.Phe3356Tyr)
 gnomAD v4
2g.178618034A>CCA349618016TTN,TTN-AS1c.39613T>G (p.Phe13205Val)
c.20698T>G (p.Phe6900Val)
c.20497T>G (p.Phe6833Val)
c.20122T>G (p.Phe6708Val)
c.47317T>G (p.Phe15773Val)
c.42394T>G (p.Phe14132Val)
n.1605-1719A>C
c.46414T>G (p.Phe15472Val)
c.20308T>G (p.Phe6770Val)
c.20167T>G (p.Phe6723Val)
c.46210T>G (p.Phe15404Val)
c.41608T>G (p.Phe13870Val)
c.41605T>G (p.Phe13869Val)
c.38647T>G (p.Phe12883Val)
c.20263T>G (p.Phe6755Val)
c.41758T>G (p.Phe13920Val)
c.41755T>G (p.Phe13919Val)
c.41188T>G (p.Phe13730Val)
c.38530T>G (p.Phe12844Val)
c.38449T>G (p.Phe12817Val)
c.20212T>G (p.Phe6738Val)
c.10066T>G (p.Phe3356Val)
2g.178618034A>GCA349618019TTN,TTN-AS1c.39613T>C (p.Phe13205Leu)
c.20698T>C (p.Phe6900Leu)
c.20497T>C (p.Phe6833Leu)
c.20122T>C (p.Phe6708Leu)
c.47317T>C (p.Phe15773Leu)
c.42394T>C (p.Phe14132Leu)
n.1605-1719A>G
c.46414T>C (p.Phe15472Leu)
c.20308T>C (p.Phe6770Leu)
c.20167T>C (p.Phe6723Leu)
c.46210T>C (p.Phe15404Leu)
c.41608T>C (p.Phe13870Leu)
c.41605T>C (p.Phe13869Leu)
c.38647T>C (p.Phe12883Leu)
c.20263T>C (p.Phe6755Leu)
c.41758T>C (p.Phe13920Leu)
c.41755T>C (p.Phe13919Leu)
c.41188T>C (p.Phe13730Leu)
c.38530T>C (p.Phe12844Leu)
c.38449T>C (p.Phe12817Leu)
c.20212T>C (p.Phe6738Leu)
c.10066T>C (p.Phe3356Leu)
2g.178618034A>TCA349618022TTN,TTN-AS1c.39613T>A (p.Phe13205Ile)
c.20698T>A (p.Phe6900Ile)
c.20497T>A (p.Phe6833Ile)
c.20122T>A (p.Phe6708Ile)
c.47317T>A (p.Phe15773Ile)
c.42394T>A (p.Phe14132Ile)
n.1605-1719A>T
c.46414T>A (p.Phe15472Ile)
c.20308T>A (p.Phe6770Ile)
c.20167T>A (p.Phe6723Ile)
c.46210T>A (p.Phe15404Ile)
c.41608T>A (p.Phe13870Ile)
c.41605T>A (p.Phe13869Ile)
c.38647T>A (p.Phe12883Ile)
c.20263T>A (p.Phe6755Ile)
c.41758T>A (p.Phe13920Ile)
c.41755T>A (p.Phe13919Ile)
c.41188T>A (p.Phe13730Ile)
c.38530T>A (p.Phe12844Ile)
c.38449T>A (p.Phe12817Ile)
c.20212T>A (p.Phe6738Ile)
c.10066T>A (p.Phe3356Ile)
2g.178618035T>ACA430274400TTN,TTN-AS1c.39612A>T (p.Arg13204=)
c.20697A>T (p.Arg6899=)
c.20496A>T (p.Arg6832=)
c.20121A>T (p.Arg6707=)
c.47316A>T (p.Arg15772=)
c.42393A>T (p.Arg14131=)
n.1605-1718T>A
c.46413A>T (p.Arg15471=)
c.20307A>T (p.Arg6769=)
c.20166A>T (p.Arg6722=)
c.46209A>T (p.Arg15403=)
c.41607A>T (p.Arg13869=)
c.41604A>T (p.Arg13868=)
c.38646A>T (p.Arg12882=)
c.20262A>T (p.Arg6754=)
c.41757A>T (p.Arg13919=)
c.41754A>T (p.Arg13918=)
c.41187A>T (p.Arg13729=)
c.38529A>T (p.Arg12843=)
c.38448A>T (p.Arg12816=)
c.20211A>T (p.Arg6737=)
c.10065A>T (p.Arg3355=)
2g.178618035T>CCA1995065TTN,TTN-AS1c.39612A>G (p.Arg13204=)
c.20697A>G (p.Arg6899=)
c.20496A>G (p.Arg6832=)
c.20121A>G (p.Arg6707=)
c.47316A>G (p.Arg15772=)
c.42393A>G (p.Arg14131=)
n.1605-1718T>C
c.46413A>G (p.Arg15471=)
c.20307A>G (p.Arg6769=)
c.20166A>G (p.Arg6722=)
c.46209A>G (p.Arg15403=)
c.41607A>G (p.Arg13869=)
c.41604A>G (p.Arg13868=)
c.38646A>G (p.Arg12882=)
c.20262A>G (p.Arg6754=)
c.41757A>G (p.Arg13919=)
c.41754A>G (p.Arg13918=)
c.41187A>G (p.Arg13729=)
c.38529A>G (p.Arg12843=)
c.38448A>G (p.Arg12816=)
c.20211A>G (p.Arg6737=)
c.10065A>G (p.Arg3355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618035T>GCA430274405TTN,TTN-AS1c.39612A>C (p.Arg13204=)
c.20697A>C (p.Arg6899=)
c.20496A>C (p.Arg6832=)
c.20121A>C (p.Arg6707=)
c.47316A>C (p.Arg15772=)
c.42393A>C (p.Arg14131=)
n.1605-1718T>G
c.46413A>C (p.Arg15471=)
c.20307A>C (p.Arg6769=)
c.20166A>C (p.Arg6722=)
c.46209A>C (p.Arg15403=)
c.41607A>C (p.Arg13869=)
c.41604A>C (p.Arg13868=)
c.38646A>C (p.Arg12882=)
c.20262A>C (p.Arg6754=)
c.41757A>C (p.Arg13919=)
c.41754A>C (p.Arg13918=)
c.41187A>C (p.Arg13729=)
c.38529A>C (p.Arg12843=)
c.38448A>C (p.Arg12816=)
c.20211A>C (p.Arg6737=)
c.10065A>C (p.Arg3355=)
2g.178618035T=CA1310550884TTN,TTN-AS1c.39612A= (p.Arg13204=)
c.20697A= (p.Arg6899=)
c.20496A= (p.Arg6832=)
c.20121A= (p.Arg6707=)
c.47316A= (p.Arg15772=)
c.42393A= (p.Arg14131=)
n.1605-1718T=
c.46413A= (p.Arg15471=)
c.20307A= (p.Arg6769=)
c.20166A= (p.Arg6722=)
c.46209A= (p.Arg15403=)
c.41607A= (p.Arg13869=)
c.41604A= (p.Arg13868=)
c.38646A= (p.Arg12882=)
c.20262A= (p.Arg6754=)
c.41757A= (p.Arg13919=)
c.41754A= (p.Arg13918=)
c.41187A= (p.Arg13729=)
c.38529A= (p.Arg12843=)
c.38448A= (p.Arg12816=)
c.20211A= (p.Arg6737=)
c.10065A= (p.Arg3355=)
2g.178618036C>ACA349618028TTN,TTN-AS1c.39611G>T (p.Arg13204Leu)
c.20696G>T (p.Arg6899Leu)
c.20495G>T (p.Arg6832Leu)
c.20120G>T (p.Arg6707Leu)
c.47315G>T (p.Arg15772Leu)
c.42392G>T (p.Arg14131Leu)
n.1605-1717C>A
c.46412G>T (p.Arg15471Leu)
c.20306G>T (p.Arg6769Leu)
c.20165G>T (p.Arg6722Leu)
c.46208G>T (p.Arg15403Leu)
c.41606G>T (p.Arg13869Leu)
c.41603G>T (p.Arg13868Leu)
c.38645G>T (p.Arg12882Leu)
c.20261G>T (p.Arg6754Leu)
c.41756G>T (p.Arg13919Leu)
c.41753G>T (p.Arg13918Leu)
c.41186G>T (p.Arg13729Leu)
c.38528G>T (p.Arg12843Leu)
c.38447G>T (p.Arg12816Leu)
c.20210G>T (p.Arg6737Leu)
c.10064G>T (p.Arg3355Leu)
 gnomAD v4
2g.178618036C=CA1310550885TTN,TTN-AS1c.39611G= (p.Arg13204=)
c.20696G= (p.Arg6899=)
c.20495G= (p.Arg6832=)
c.20120G= (p.Arg6707=)
c.47315G= (p.Arg15772=)
c.42392G= (p.Arg14131=)
n.1605-1717C=
c.46412G= (p.Arg15471=)
c.20306G= (p.Arg6769=)
c.20165G= (p.Arg6722=)
c.46208G= (p.Arg15403=)
c.41606G= (p.Arg13869=)
c.41603G= (p.Arg13868=)
c.38645G= (p.Arg12882=)
c.20261G= (p.Arg6754=)
c.41756G= (p.Arg13919=)
c.41753G= (p.Arg13918=)
c.41186G= (p.Arg13729=)
c.38528G= (p.Arg12843=)
c.38447G= (p.Arg12816=)
c.20210G= (p.Arg6737=)
c.10064G= (p.Arg3355=)
2g.178618036C>GCA349618032TTN,TTN-AS1c.39611G>C (p.Arg13204Pro)
c.20696G>C (p.Arg6899Pro)
c.20495G>C (p.Arg6832Pro)
c.20120G>C (p.Arg6707Pro)
c.47315G>C (p.Arg15772Pro)
c.42392G>C (p.Arg14131Pro)
n.1605-1717C>G
c.46412G>C (p.Arg15471Pro)
c.20306G>C (p.Arg6769Pro)
c.20165G>C (p.Arg6722Pro)
c.46208G>C (p.Arg15403Pro)
c.41606G>C (p.Arg13869Pro)
c.41603G>C (p.Arg13868Pro)
c.38645G>C (p.Arg12882Pro)
c.20261G>C (p.Arg6754Pro)
c.41756G>C (p.Arg13919Pro)
c.41753G>C (p.Arg13918Pro)
c.41186G>C (p.Arg13729Pro)
c.38528G>C (p.Arg12843Pro)
c.38447G>C (p.Arg12816Pro)
c.20210G>C (p.Arg6737Pro)
c.10064G>C (p.Arg3355Pro)
 COSMIC COSMIC COSMIC COSMIC
2g.178618036C>TCA139757TTN,TTN-AS1c.39611G>A (p.Arg13204Gln)
c.20696G>A (p.Arg6899Gln)
c.20495G>A (p.Arg6832Gln)
c.20120G>A (p.Arg6707Gln)
c.47315G>A (p.Arg15772Gln)
c.42392G>A (p.Arg14131Gln)
n.1605-1717C>T
c.46412G>A (p.Arg15471Gln)
c.20306G>A (p.Arg6769Gln)
c.20165G>A (p.Arg6722Gln)
c.46208G>A (p.Arg15403Gln)
c.41606G>A (p.Arg13869Gln)
c.41603G>A (p.Arg13868Gln)
c.38645G>A (p.Arg12882Gln)
c.20261G>A (p.Arg6754Gln)
c.41756G>A (p.Arg13919Gln)
c.41753G>A (p.Arg13918Gln)
c.41186G>A (p.Arg13729Gln)
c.38528G>A (p.Arg12843Gln)
c.38447G>A (p.Arg12816Gln)
c.20210G>A (p.Arg6737Gln)
c.10064G>A (p.Arg3355Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618037G>ACA349618035TTN,TTN-AS1c.39610C>T (p.Arg13204Ter)
c.20695C>T (p.Arg6899Ter)
c.20494C>T (p.Arg6832Ter)
c.20119C>T (p.Arg6707Ter)
c.47314C>T (p.Arg15772Ter)
c.42391C>T (p.Arg14131Ter)
n.1605-1716G>A
c.46411C>T (p.Arg15471Ter)
c.20305C>T (p.Arg6769Ter)
c.20164C>T (p.Arg6722Ter)
c.46207C>T (p.Arg15403Ter)
c.41605C>T (p.Arg13869Ter)
c.41602C>T (p.Arg13868Ter)
c.38644C>T (p.Arg12882Ter)
c.20260C>T (p.Arg6754Ter)
c.41755C>T (p.Arg13919Ter)
c.41752C>T (p.Arg13918Ter)
c.41185C>T (p.Arg13729Ter)
c.38527C>T (p.Arg12843Ter)
c.38446C>T (p.Arg12816Ter)
c.20209C>T (p.Arg6737Ter)
c.10063C>T (p.Arg3355Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178618037G>CCA349618037TTN,TTN-AS1c.39610C>G (p.Arg13204Gly)
c.20695C>G (p.Arg6899Gly)
c.20494C>G (p.Arg6832Gly)
c.20119C>G (p.Arg6707Gly)
c.47314C>G (p.Arg15772Gly)
c.42391C>G (p.Arg14131Gly)
n.1605-1716G>C
c.46411C>G (p.Arg15471Gly)
c.20305C>G (p.Arg6769Gly)
c.20164C>G (p.Arg6722Gly)
c.46207C>G (p.Arg15403Gly)
c.41605C>G (p.Arg13869Gly)
c.41602C>G (p.Arg13868Gly)
c.38644C>G (p.Arg12882Gly)
c.20260C>G (p.Arg6754Gly)
c.41755C>G (p.Arg13919Gly)
c.41752C>G (p.Arg13918Gly)
c.41185C>G (p.Arg13729Gly)
c.38527C>G (p.Arg12843Gly)
c.38446C>G (p.Arg12816Gly)
c.20209C>G (p.Arg6737Gly)
c.10063C>G (p.Arg3355Gly)
2g.178618037G>TCA430274414TTN,TTN-AS1c.39610C>A (p.Arg13204=)
c.20695C>A (p.Arg6899=)
c.20494C>A (p.Arg6832=)
c.20119C>A (p.Arg6707=)
c.47314C>A (p.Arg15772=)
c.42391C>A (p.Arg14131=)
n.1605-1716G>T
c.46411C>A (p.Arg15471=)
c.20305C>A (p.Arg6769=)
c.20164C>A (p.Arg6722=)
c.46207C>A (p.Arg15403=)
c.41605C>A (p.Arg13869=)
c.41602C>A (p.Arg13868=)
c.38644C>A (p.Arg12882=)
c.20260C>A (p.Arg6754=)
c.41755C>A (p.Arg13919=)
c.41752C>A (p.Arg13918=)
c.41185C>A (p.Arg13729=)
c.38527C>A (p.Arg12843=)
c.38446C>A (p.Arg12816=)
c.20209C>A (p.Arg6737=)
c.10063C>A (p.Arg3355=)
 COSMIC COSMIC COSMIC
2g.178618038A>CCA349618040TTN,TTN-AS1c.39609T>G (p.Asn13203Lys)
c.20694T>G (p.Asn6898Lys)
c.20493T>G (p.Asn6831Lys)
c.20118T>G (p.Asn6706Lys)
c.47313T>G (p.Asn15771Lys)
c.42390T>G (p.Asn14130Lys)
n.1605-1715A>C
c.46410T>G (p.Asn15470Lys)
c.20304T>G (p.Asn6768Lys)
c.20163T>G (p.Asn6721Lys)
c.46206T>G (p.Asn15402Lys)
c.41604T>G (p.Asn13868Lys)
c.41601T>G (p.Asn13867Lys)
c.38643T>G (p.Asn12881Lys)
c.20259T>G (p.Asn6753Lys)
c.41754T>G (p.Asn13918Lys)
c.41751T>G (p.Asn13917Lys)
c.41184T>G (p.Asn13728Lys)
c.38526T>G (p.Asn12842Lys)
c.38445T>G (p.Asn12815Lys)
c.20208T>G (p.Asn6736Lys)
c.10062T>G (p.Asn3354Lys)
2g.178618038A>GCA430274417TTN,TTN-AS1c.39609T>C (p.Asn13203=)
c.20694T>C (p.Asn6898=)
c.20493T>C (p.Asn6831=)
c.20118T>C (p.Asn6706=)
c.47313T>C (p.Asn15771=)
c.42390T>C (p.Asn14130=)
n.1605-1715A>G
c.46410T>C (p.Asn15470=)
c.20304T>C (p.Asn6768=)
c.20163T>C (p.Asn6721=)
c.46206T>C (p.Asn15402=)
c.41604T>C (p.Asn13868=)
c.41601T>C (p.Asn13867=)
c.38643T>C (p.Asn12881=)
c.20259T>C (p.Asn6753=)
c.41754T>C (p.Asn13918=)
c.41751T>C (p.Asn13917=)
c.41184T>C (p.Asn13728=)
c.38526T>C (p.Asn12842=)
c.38445T>C (p.Asn12815=)
c.20208T>C (p.Asn6736=)
c.10062T>C (p.Asn3354=)
2g.178618038A>TCA349618043TTN,TTN-AS1c.39609T>A (p.Asn13203Lys)
c.20694T>A (p.Asn6898Lys)
c.20493T>A (p.Asn6831Lys)
c.20118T>A (p.Asn6706Lys)
c.47313T>A (p.Asn15771Lys)
c.42390T>A (p.Asn14130Lys)
n.1605-1715A>T
c.46410T>A (p.Asn15470Lys)
c.20304T>A (p.Asn6768Lys)
c.20163T>A (p.Asn6721Lys)
c.46206T>A (p.Asn15402Lys)
c.41604T>A (p.Asn13868Lys)
c.41601T>A (p.Asn13867Lys)
c.38643T>A (p.Asn12881Lys)
c.20259T>A (p.Asn6753Lys)
c.41754T>A (p.Asn13918Lys)
c.41751T>A (p.Asn13917Lys)
c.41184T>A (p.Asn13728Lys)
c.38526T>A (p.Asn12842Lys)
c.38445T>A (p.Asn12815Lys)
c.20208T>A (p.Asn6736Lys)
c.10062T>A (p.Asn3354Lys)
2g.178618039T>ACA349618046TTN,TTN-AS1c.39608A>T (p.Asn13203Ile)
c.20693A>T (p.Asn6898Ile)
c.20492A>T (p.Asn6831Ile)
c.20117A>T (p.Asn6706Ile)
c.47312A>T (p.Asn15771Ile)
c.42389A>T (p.Asn14130Ile)
n.1605-1714T>A
c.46409A>T (p.Asn15470Ile)
c.20303A>T (p.Asn6768Ile)
c.20162A>T (p.Asn6721Ile)
c.46205A>T (p.Asn15402Ile)
c.41603A>T (p.Asn13868Ile)
c.41600A>T (p.Asn13867Ile)
c.38642A>T (p.Asn12881Ile)
c.20258A>T (p.Asn6753Ile)
c.41753A>T (p.Asn13918Ile)
c.41750A>T (p.Asn13917Ile)
c.41183A>T (p.Asn13728Ile)
c.38525A>T (p.Asn12842Ile)
c.38444A>T (p.Asn12815Ile)
c.20207A>T (p.Asn6736Ile)
c.10061A>T (p.Asn3354Ile)
2g.178618039T>CCA349618048TTN,TTN-AS1c.39608A>G (p.Asn13203Ser)
c.20693A>G (p.Asn6898Ser)
c.20492A>G (p.Asn6831Ser)
c.20117A>G (p.Asn6706Ser)
c.47312A>G (p.Asn15771Ser)
c.42389A>G (p.Asn14130Ser)
n.1605-1714T>C
c.46409A>G (p.Asn15470Ser)
c.20303A>G (p.Asn6768Ser)
c.20162A>G (p.Asn6721Ser)
c.46205A>G (p.Asn15402Ser)
c.41603A>G (p.Asn13868Ser)
c.41600A>G (p.Asn13867Ser)
c.38642A>G (p.Asn12881Ser)
c.20258A>G (p.Asn6753Ser)
c.41753A>G (p.Asn13918Ser)
c.41750A>G (p.Asn13917Ser)
c.41183A>G (p.Asn13728Ser)
c.38525A>G (p.Asn12842Ser)
c.38444A>G (p.Asn12815Ser)
c.20207A>G (p.Asn6736Ser)
c.10061A>G (p.Asn3354Ser)
2g.178618039T>GCA349618051TTN,TTN-AS1c.39608A>C (p.Asn13203Thr)
c.20693A>C (p.Asn6898Thr)
c.20492A>C (p.Asn6831Thr)
c.20117A>C (p.Asn6706Thr)
c.47312A>C (p.Asn15771Thr)
c.42389A>C (p.Asn14130Thr)
n.1605-1714T>G
c.46409A>C (p.Asn15470Thr)
c.20303A>C (p.Asn6768Thr)
c.20162A>C (p.Asn6721Thr)
c.46205A>C (p.Asn15402Thr)
c.41603A>C (p.Asn13868Thr)
c.41600A>C (p.Asn13867Thr)
c.38642A>C (p.Asn12881Thr)
c.20258A>C (p.Asn6753Thr)
c.41753A>C (p.Asn13918Thr)
c.41750A>C (p.Asn13917Thr)
c.41183A>C (p.Asn13728Thr)
c.38525A>C (p.Asn12842Thr)
c.38444A>C (p.Asn12815Thr)
c.20207A>C (p.Asn6736Thr)
c.10061A>C (p.Asn3354Thr)
2g.178618040T>ACA349618055TTN,TTN-AS1c.39607A>T (p.Asn13203Tyr)
c.20692A>T (p.Asn6898Tyr)
c.20491A>T (p.Asn6831Tyr)
c.20116A>T (p.Asn6706Tyr)
c.47311A>T (p.Asn15771Tyr)
c.42388A>T (p.Asn14130Tyr)
n.1605-1713T>A
c.46408A>T (p.Asn15470Tyr)
c.20302A>T (p.Asn6768Tyr)
c.20161A>T (p.Asn6721Tyr)
c.46204A>T (p.Asn15402Tyr)
c.41602A>T (p.Asn13868Tyr)
c.41599A>T (p.Asn13867Tyr)
c.38641A>T (p.Asn12881Tyr)
c.20257A>T (p.Asn6753Tyr)
c.41752A>T (p.Asn13918Tyr)
c.41749A>T (p.Asn13917Tyr)
c.41182A>T (p.Asn13728Tyr)
c.38524A>T (p.Asn12842Tyr)
c.38443A>T (p.Asn12815Tyr)
c.20206A>T (p.Asn6736Tyr)
c.10060A>T (p.Asn3354Tyr)
2g.178618040T>CCA1995066TTN,TTN-AS1c.39607A>G (p.Asn13203Asp)
c.20692A>G (p.Asn6898Asp)
c.20491A>G (p.Asn6831Asp)
c.20116A>G (p.Asn6706Asp)
c.47311A>G (p.Asn15771Asp)
c.42388A>G (p.Asn14130Asp)
n.1605-1713T>C
c.46408A>G (p.Asn15470Asp)
c.20302A>G (p.Asn6768Asp)
c.20161A>G (p.Asn6721Asp)
c.46204A>G (p.Asn15402Asp)
c.41602A>G (p.Asn13868Asp)
c.41599A>G (p.Asn13867Asp)
c.38641A>G (p.Asn12881Asp)
c.20257A>G (p.Asn6753Asp)
c.41752A>G (p.Asn13918Asp)
c.41749A>G (p.Asn13917Asp)
c.41182A>G (p.Asn13728Asp)
c.38524A>G (p.Asn12842Asp)
c.38443A>G (p.Asn12815Asp)
c.20206A>G (p.Asn6736Asp)
c.10060A>G (p.Asn3354Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618040T>GCA349618061TTN,TTN-AS1c.39607A>C (p.Asn13203His)
c.20692A>C (p.Asn6898His)
c.20491A>C (p.Asn6831His)
c.20116A>C (p.Asn6706His)
c.47311A>C (p.Asn15771His)
c.42388A>C (p.Asn14130His)
n.1605-1713T>G
c.46408A>C (p.Asn15470His)
c.20302A>C (p.Asn6768His)
c.20161A>C (p.Asn6721His)
c.46204A>C (p.Asn15402His)
c.41602A>C (p.Asn13868His)
c.41599A>C (p.Asn13867His)
c.38641A>C (p.Asn12881His)
c.20257A>C (p.Asn6753His)
c.41752A>C (p.Asn13918His)
c.41749A>C (p.Asn13917His)
c.41182A>C (p.Asn13728His)
c.38524A>C (p.Asn12842His)
c.38443A>C (p.Asn12815His)
c.20206A>C (p.Asn6736His)
c.10060A>C (p.Asn3354His)
2g.178618040T=CA1310550886TTN,TTN-AS1c.39607A= (p.Asn13203=)
c.20692A= (p.Asn6898=)
c.20491A= (p.Asn6831=)
c.20116A= (p.Asn6706=)
c.47311A= (p.Asn15771=)
c.42388A= (p.Asn14130=)
n.1605-1713T=
c.46408A= (p.Asn15470=)
c.20302A= (p.Asn6768=)
c.20161A= (p.Asn6721=)
c.46204A= (p.Asn15402=)
c.41602A= (p.Asn13868=)
c.41599A= (p.Asn13867=)
c.38641A= (p.Asn12881=)
c.20257A= (p.Asn6753=)
c.41752A= (p.Asn13918=)
c.41749A= (p.Asn13917=)
c.41182A= (p.Asn13728=)
c.38524A= (p.Asn12842=)
c.38443A= (p.Asn12815=)
c.20206A= (p.Asn6736=)
c.10060A= (p.Asn3354=)
2g.178618041C>ACA430274425TTN,TTN-AS1c.39606G>T (p.Val13202=)
c.20691G>T (p.Val6897=)
c.20490G>T (p.Val6830=)
c.20115G>T (p.Val6705=)
c.47310G>T (p.Val15770=)
c.42387G>T (p.Val14129=)
n.1605-1712C>A
c.46407G>T (p.Val15469=)
c.20301G>T (p.Val6767=)
c.20160G>T (p.Val6720=)
c.46203G>T (p.Val15401=)
c.41601G>T (p.Val13867=)
c.41598G>T (p.Val13866=)
c.38640G>T (p.Val12880=)
c.20256G>T (p.Val6752=)
c.41751G>T (p.Val13917=)
c.41748G>T (p.Val13916=)
c.41181G>T (p.Val13727=)
c.38523G>T (p.Val12841=)
c.38442G>T (p.Val12814=)
c.20205G>T (p.Val6735=)
c.10059G>T (p.Val3353=)
 COSMIC COSMIC COSMIC COSMIC
2g.178618041C>GCA430274427TTN,TTN-AS1c.39606G>C (p.Val13202=)
c.20691G>C (p.Val6897=)
c.20490G>C (p.Val6830=)
c.20115G>C (p.Val6705=)
c.47310G>C (p.Val15770=)
c.42387G>C (p.Val14129=)
n.1605-1712C>G
c.46407G>C (p.Val15469=)
c.20301G>C (p.Val6767=)
c.20160G>C (p.Val6720=)
c.46203G>C (p.Val15401=)
c.41601G>C (p.Val13867=)
c.41598G>C (p.Val13866=)
c.38640G>C (p.Val12880=)
c.20256G>C (p.Val6752=)
c.41751G>C (p.Val13917=)
c.41748G>C (p.Val13916=)
c.41181G>C (p.Val13727=)
c.38523G>C (p.Val12841=)
c.38442G>C (p.Val12814=)
c.20205G>C (p.Val6735=)
c.10059G>C (p.Val3353=)
2g.178618041C>TCA430274429TTN,TTN-AS1c.39606G>A (p.Val13202=)
c.20691G>A (p.Val6897=)
c.20490G>A (p.Val6830=)
c.20115G>A (p.Val6705=)
c.47310G>A (p.Val15770=)
c.42387G>A (p.Val14129=)
n.1605-1712C>T
c.46407G>A (p.Val15469=)
c.20301G>A (p.Val6767=)
c.20160G>A (p.Val6720=)
c.46203G>A (p.Val15401=)
c.41601G>A (p.Val13867=)
c.41598G>A (p.Val13866=)
c.38640G>A (p.Val12880=)
c.20256G>A (p.Val6752=)
c.41751G>A (p.Val13917=)
c.41748G>A (p.Val13916=)
c.41181G>A (p.Val13727=)
c.38523G>A (p.Val12841=)
c.38442G>A (p.Val12814=)
c.20205G>A (p.Val6735=)
c.10059G>A (p.Val3353=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178618042A>CCA349618066TTN,TTN-AS1c.39605T>G (p.Val13202Gly)
c.20690T>G (p.Val6897Gly)
c.20489T>G (p.Val6830Gly)
c.20114T>G (p.Val6705Gly)
c.47309T>G (p.Val15770Gly)
c.42386T>G (p.Val14129Gly)
n.1605-1711A>C
c.46406T>G (p.Val15469Gly)
c.20300T>G (p.Val6767Gly)
c.20159T>G (p.Val6720Gly)
c.46202T>G (p.Val15401Gly)
c.41600T>G (p.Val13867Gly)
c.41597T>G (p.Val13866Gly)
c.38639T>G (p.Val12880Gly)
c.20255T>G (p.Val6752Gly)
c.41750T>G (p.Val13917Gly)
c.41747T>G (p.Val13916Gly)
c.41180T>G (p.Val13727Gly)
c.38522T>G (p.Val12841Gly)
c.38441T>G (p.Val12814Gly)
c.20204T>G (p.Val6735Gly)
c.10058T>G (p.Val3353Gly)
 gnomAD v4
2g.178618042A>GCA349618069TTN,TTN-AS1c.39605T>C (p.Val13202Ala)
c.20690T>C (p.Val6897Ala)
c.20489T>C (p.Val6830Ala)
c.20114T>C (p.Val6705Ala)
c.47309T>C (p.Val15770Ala)
c.42386T>C (p.Val14129Ala)
n.1605-1711A>G
c.46406T>C (p.Val15469Ala)
c.20300T>C (p.Val6767Ala)
c.20159T>C (p.Val6720Ala)
c.46202T>C (p.Val15401Ala)
c.41600T>C (p.Val13867Ala)
c.41597T>C (p.Val13866Ala)
c.38639T>C (p.Val12880Ala)
c.20255T>C (p.Val6752Ala)
c.41750T>C (p.Val13917Ala)
c.41747T>C (p.Val13916Ala)
c.41180T>C (p.Val13727Ala)
c.38522T>C (p.Val12841Ala)
c.38441T>C (p.Val12814Ala)
c.20204T>C (p.Val6735Ala)
c.10058T>C (p.Val3353Ala)
2g.178618042A>TCA349618063TTN,TTN-AS1c.39605T>A (p.Val13202Glu)
c.20690T>A (p.Val6897Glu)
c.20489T>A (p.Val6830Glu)
c.20114T>A (p.Val6705Glu)
c.47309T>A (p.Val15770Glu)
c.42386T>A (p.Val14129Glu)
n.1605-1711A>T
c.46406T>A (p.Val15469Glu)
c.20300T>A (p.Val6767Glu)
c.20159T>A (p.Val6720Glu)
c.46202T>A (p.Val15401Glu)
c.41600T>A (p.Val13867Glu)
c.41597T>A (p.Val13866Glu)
c.38639T>A (p.Val12880Glu)
c.20255T>A (p.Val6752Glu)
c.41750T>A (p.Val13917Glu)
c.41747T>A (p.Val13916Glu)
c.41180T>A (p.Val13727Glu)
c.38522T>A (p.Val12841Glu)
c.38441T>A (p.Val12814Glu)
c.20204T>A (p.Val6735Glu)
c.10058T>A (p.Val3353Glu)
2g.178618043C>ACA349618071TTN,TTN-AS1c.39604G>T (p.Val13202Leu)
c.20689G>T (p.Val6897Leu)
c.20488G>T (p.Val6830Leu)
c.20113G>T (p.Val6705Leu)
c.47308G>T (p.Val15770Leu)
c.42385G>T (p.Val14129Leu)
n.1605-1710C>A
c.46405G>T (p.Val15469Leu)
c.20299G>T (p.Val6767Leu)
c.20158G>T (p.Val6720Leu)
c.46201G>T (p.Val15401Leu)
c.41599G>T (p.Val13867Leu)
c.41596G>T (p.Val13866Leu)
c.38638G>T (p.Val12880Leu)
c.20254G>T (p.Val6752Leu)
c.41749G>T (p.Val13917Leu)
c.41746G>T (p.Val13916Leu)
c.41179G>T (p.Val13727Leu)
c.38521G>T (p.Val12841Leu)
c.38440G>T (p.Val12814Leu)
c.20203G>T (p.Val6735Leu)
c.10057G>T (p.Val3353Leu)
2g.178618043C=CA1310550887TTN,TTN-AS1c.39604G= (p.Val13202=)
c.20689G= (p.Val6897=)
c.20488G= (p.Val6830=)
c.20113G= (p.Val6705=)
c.47308G= (p.Val15770=)
c.42385G= (p.Val14129=)
n.1605-1710C=
c.46405G= (p.Val15469=)
c.20299G= (p.Val6767=)
c.20158G= (p.Val6720=)
c.46201G= (p.Val15401=)
c.41599G= (p.Val13867=)
c.41596G= (p.Val13866=)
c.38638G= (p.Val12880=)
c.20254G= (p.Val6752=)
c.41749G= (p.Val13917=)
c.41746G= (p.Val13916=)
c.41179G= (p.Val13727=)
c.38521G= (p.Val12841=)
c.38440G= (p.Val12814=)
c.20203G= (p.Val6735=)
c.10057G= (p.Val3353=)
2g.178618043C>GCA349618073TTN,TTN-AS1c.39604G>C (p.Val13202Leu)
c.20689G>C (p.Val6897Leu)
c.20488G>C (p.Val6830Leu)
c.20113G>C (p.Val6705Leu)
c.47308G>C (p.Val15770Leu)
c.42385G>C (p.Val14129Leu)
n.1605-1710C>G
c.46405G>C (p.Val15469Leu)
c.20299G>C (p.Val6767Leu)
c.20158G>C (p.Val6720Leu)
c.46201G>C (p.Val15401Leu)
c.41599G>C (p.Val13867Leu)
c.41596G>C (p.Val13866Leu)
c.38638G>C (p.Val12880Leu)
c.20254G>C (p.Val6752Leu)
c.41749G>C (p.Val13917Leu)
c.41746G>C (p.Val13916Leu)
c.41179G>C (p.Val13727Leu)
c.38521G>C (p.Val12841Leu)
c.38440G>C (p.Val12814Leu)
c.20203G>C (p.Val6735Leu)
c.10057G>C (p.Val3353Leu)
2g.178618043C>TCA60990532TTN,TTN-AS1c.39604G>A (p.Val13202Met)
c.20689G>A (p.Val6897Met)
c.20488G>A (p.Val6830Met)
c.20113G>A (p.Val6705Met)
c.47308G>A (p.Val15770Met)
c.42385G>A (p.Val14129Met)
n.1605-1710C>T
c.46405G>A (p.Val15469Met)
c.20299G>A (p.Val6767Met)
c.20158G>A (p.Val6720Met)
c.46201G>A (p.Val15401Met)
c.41599G>A (p.Val13867Met)
c.41596G>A (p.Val13866Met)
c.38638G>A (p.Val12880Met)
c.20254G>A (p.Val6752Met)
c.41749G>A (p.Val13917Met)
c.41746G>A (p.Val13916Met)
c.41179G>A (p.Val13727Met)
c.38521G>A (p.Val12841Met)
c.38440G>A (p.Val12814Met)
c.20203G>A (p.Val6735Met)
c.10057G>A (p.Val3353Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178618044A=CA1310550888TTN,TTN-AS1c.39603T= (p.Asp13201=)
c.20688T= (p.Asp6896=)
c.20487T= (p.Asp6829=)
c.20112T= (p.Asp6704=)
c.47307T= (p.Asp15769=)
c.42384T= (p.Asp14128=)
n.1605-1709A=
c.46404T= (p.Asp15468=)
c.20298T= (p.Asp6766=)
c.20157T= (p.Asp6719=)
c.46200T= (p.Asp15400=)
c.41598T= (p.Asp13866=)
c.41595T= (p.Asp13865=)
c.38637T= (p.Asp12879=)
c.20253T= (p.Asp6751=)
c.41748T= (p.Asp13916=)
c.41745T= (p.Asp13915=)
c.41178T= (p.Asp13726=)
c.38520T= (p.Asp12840=)
c.38439T= (p.Asp12813=)
c.20202T= (p.Asp6734=)
c.10056T= (p.Asp3352=)
2g.178618044A>CCA349618077TTN,TTN-AS1c.39603T>G (p.Asp13201Glu)
c.20688T>G (p.Asp6896Glu)
c.20487T>G (p.Asp6829Glu)
c.20112T>G (p.Asp6704Glu)
c.47307T>G (p.Asp15769Glu)
c.42384T>G (p.Asp14128Glu)
n.1605-1709A>C
c.46404T>G (p.Asp15468Glu)
c.20298T>G (p.Asp6766Glu)
c.20157T>G (p.Asp6719Glu)
c.46200T>G (p.Asp15400Glu)
c.41598T>G (p.Asp13866Glu)
c.41595T>G (p.Asp13865Glu)
c.38637T>G (p.Asp12879Glu)
c.20253T>G (p.Asp6751Glu)
c.41748T>G (p.Asp13916Glu)
c.41745T>G (p.Asp13915Glu)
c.41178T>G (p.Asp13726Glu)
c.38520T>G (p.Asp12840Glu)
c.38439T>G (p.Asp12813Glu)
c.20202T>G (p.Asp6734Glu)
c.10056T>G (p.Asp3352Glu)
2g.178618044A>GCA1995067TTN,TTN-AS1c.39603T>C (p.Asp13201=)
c.20688T>C (p.Asp6896=)
c.20487T>C (p.Asp6829=)
c.20112T>C (p.Asp6704=)
c.47307T>C (p.Asp15769=)
c.42384T>C (p.Asp14128=)
n.1605-1709A>G
c.46404T>C (p.Asp15468=)
c.20298T>C (p.Asp6766=)
c.20157T>C (p.Asp6719=)
c.46200T>C (p.Asp15400=)
c.41598T>C (p.Asp13866=)
c.41595T>C (p.Asp13865=)
c.38637T>C (p.Asp12879=)
c.20253T>C (p.Asp6751=)
c.41748T>C (p.Asp13916=)
c.41745T>C (p.Asp13915=)
c.41178T>C (p.Asp13726=)
c.38520T>C (p.Asp12840=)
c.38439T>C (p.Asp12813=)
c.20202T>C (p.Asp6734=)
c.10056T>C (p.Asp3352=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618044A>TCA349618080TTN,TTN-AS1c.39603T>A (p.Asp13201Glu)
c.20688T>A (p.Asp6896Glu)
c.20487T>A (p.Asp6829Glu)
c.20112T>A (p.Asp6704Glu)
c.47307T>A (p.Asp15769Glu)
c.42384T>A (p.Asp14128Glu)
n.1605-1709A>T
c.46404T>A (p.Asp15468Glu)
c.20298T>A (p.Asp6766Glu)
c.20157T>A (p.Asp6719Glu)
c.46200T>A (p.Asp15400Glu)
c.41598T>A (p.Asp13866Glu)
c.41595T>A (p.Asp13865Glu)
c.38637T>A (p.Asp12879Glu)
c.20253T>A (p.Asp6751Glu)
c.41748T>A (p.Asp13916Glu)
c.41745T>A (p.Asp13915Glu)
c.41178T>A (p.Asp13726Glu)
c.38520T>A (p.Asp12840Glu)
c.38439T>A (p.Asp12813Glu)
c.20202T>A (p.Asp6734Glu)
c.10056T>A (p.Asp3352Glu)
2g.178618045T>ACA349618084TTN,TTN-AS1c.39602A>T (p.Asp13201Val)
c.20687A>T (p.Asp6896Val)
c.20486A>T (p.Asp6829Val)
c.20111A>T (p.Asp6704Val)
c.47306A>T (p.Asp15769Val)
c.42383A>T (p.Asp14128Val)
n.1605-1708T>A
c.46403A>T (p.Asp15468Val)
c.20297A>T (p.Asp6766Val)
c.20156A>T (p.Asp6719Val)
c.46199A>T (p.Asp15400Val)
c.41597A>T (p.Asp13866Val)
c.41594A>T (p.Asp13865Val)
c.38636A>T (p.Asp12879Val)
c.20252A>T (p.Asp6751Val)
c.41747A>T (p.Asp13916Val)
c.41744A>T (p.Asp13915Val)
c.41177A>T (p.Asp13726Val)
c.38519A>T (p.Asp12840Val)
c.38438A>T (p.Asp12813Val)
c.20201A>T (p.Asp6734Val)
c.10055A>T (p.Asp3352Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178618045T>CCA349618087TTN,TTN-AS1c.39602A>G (p.Asp13201Gly)
c.20687A>G (p.Asp6896Gly)
c.20486A>G (p.Asp6829Gly)
c.20111A>G (p.Asp6704Gly)
c.47306A>G (p.Asp15769Gly)
c.42383A>G (p.Asp14128Gly)
n.1605-1708T>C
c.46403A>G (p.Asp15468Gly)
c.20297A>G (p.Asp6766Gly)
c.20156A>G (p.Asp6719Gly)
c.46199A>G (p.Asp15400Gly)
c.41597A>G (p.Asp13866Gly)
c.41594A>G (p.Asp13865Gly)
c.38636A>G (p.Asp12879Gly)
c.20252A>G (p.Asp6751Gly)
c.41747A>G (p.Asp13916Gly)
c.41744A>G (p.Asp13915Gly)
c.41177A>G (p.Asp13726Gly)
c.38519A>G (p.Asp12840Gly)
c.38438A>G (p.Asp12813Gly)
c.20201A>G (p.Asp6734Gly)
c.10055A>G (p.Asp3352Gly)
2g.178618045T>GCA349618090TTN,TTN-AS1c.39602A>C (p.Asp13201Ala)
c.20687A>C (p.Asp6896Ala)
c.20486A>C (p.Asp6829Ala)
c.20111A>C (p.Asp6704Ala)
c.47306A>C (p.Asp15769Ala)
c.42383A>C (p.Asp14128Ala)
n.1605-1708T>G
c.46403A>C (p.Asp15468Ala)
c.20297A>C (p.Asp6766Ala)
c.20156A>C (p.Asp6719Ala)
c.46199A>C (p.Asp15400Ala)
c.41597A>C (p.Asp13866Ala)
c.41594A>C (p.Asp13865Ala)
c.38636A>C (p.Asp12879Ala)
c.20252A>C (p.Asp6751Ala)
c.41747A>C (p.Asp13916Ala)
c.41744A>C (p.Asp13915Ala)
c.41177A>C (p.Asp13726Ala)
c.38519A>C (p.Asp12840Ala)
c.38438A>C (p.Asp12813Ala)
c.20201A>C (p.Asp6734Ala)
c.10055A>C (p.Asp3352Ala)
2g.178618046C>ACA349618092TTN,TTN-AS1c.39601G>T (p.Asp13201Tyr)
c.20686G>T (p.Asp6896Tyr)
c.20485G>T (p.Asp6829Tyr)
c.20110G>T (p.Asp6704Tyr)
c.47305G>T (p.Asp15769Tyr)
c.42382G>T (p.Asp14128Tyr)
n.1605-1707C>A
c.46402G>T (p.Asp15468Tyr)
c.20296G>T (p.Asp6766Tyr)
c.20155G>T (p.Asp6719Tyr)
c.46198G>T (p.Asp15400Tyr)
c.41596G>T (p.Asp13866Tyr)
c.41593G>T (p.Asp13865Tyr)
c.38635G>T (p.Asp12879Tyr)
c.20251G>T (p.Asp6751Tyr)
c.41746G>T (p.Asp13916Tyr)
c.41743G>T (p.Asp13915Tyr)
c.41176G>T (p.Asp13726Tyr)
c.38518G>T (p.Asp12840Tyr)
c.38437G>T (p.Asp12813Tyr)
c.20200G>T (p.Asp6734Tyr)
c.10054G>T (p.Asp3352Tyr)
2g.178618046C>GCA349618094TTN,TTN-AS1c.39601G>C (p.Asp13201His)
c.20686G>C (p.Asp6896His)
c.20485G>C (p.Asp6829His)
c.20110G>C (p.Asp6704His)
c.47305G>C (p.Asp15769His)
c.42382G>C (p.Asp14128His)
n.1605-1707C>G
c.46402G>C (p.Asp15468His)
c.20296G>C (p.Asp6766His)
c.20155G>C (p.Asp6719His)
c.46198G>C (p.Asp15400His)
c.41596G>C (p.Asp13866His)
c.41593G>C (p.Asp13865His)
c.38635G>C (p.Asp12879His)
c.20251G>C (p.Asp6751His)
c.41746G>C (p.Asp13916His)
c.41743G>C (p.Asp13915His)
c.41176G>C (p.Asp13726His)
c.38518G>C (p.Asp12840His)
c.38437G>C (p.Asp12813His)
c.20200G>C (p.Asp6734His)
c.10054G>C (p.Asp3352His)
 gnomAD v4
2g.178618046C>TCA349618097TTN,TTN-AS1c.39601G>A (p.Asp13201Asn)
c.20686G>A (p.Asp6896Asn)
c.20485G>A (p.Asp6829Asn)
c.20110G>A (p.Asp6704Asn)
c.47305G>A (p.Asp15769Asn)
c.42382G>A (p.Asp14128Asn)
n.1605-1707C>T
c.46402G>A (p.Asp15468Asn)
c.20296G>A (p.Asp6766Asn)
c.20155G>A (p.Asp6719Asn)
c.46198G>A (p.Asp15400Asn)
c.41596G>A (p.Asp13866Asn)
c.41593G>A (p.Asp13865Asn)
c.38635G>A (p.Asp12879Asn)
c.20251G>A (p.Asp6751Asn)
c.41746G>A (p.Asp13916Asn)
c.41743G>A (p.Asp13915Asn)
c.41176G>A (p.Asp13726Asn)
c.38518G>A (p.Asp12840Asn)
c.38437G>A (p.Asp12813Asn)
c.20200G>A (p.Asp6734Asn)
c.10054G>A (p.Asp3352Asn)
2g.178618047A>CCA430274458TTN,TTN-AS1c.39600T>G (p.Thr13200=)
c.20685T>G (p.Thr6895=)
c.20484T>G (p.Thr6828=)
c.20109T>G (p.Thr6703=)
c.47304T>G (p.Thr15768=)
c.42381T>G (p.Thr14127=)
n.1605-1706A>C
c.46401T>G (p.Thr15467=)
c.20295T>G (p.Thr6765=)
c.20154T>G (p.Thr6718=)
c.46197T>G (p.Thr15399=)
c.41595T>G (p.Thr13865=)
c.41592T>G (p.Thr13864=)
c.38634T>G (p.Thr12878=)
c.20250T>G (p.Thr6750=)
c.41745T>G (p.Thr13915=)
c.41742T>G (p.Thr13914=)
c.41175T>G (p.Thr13725=)
c.38517T>G (p.Thr12839=)
c.38436T>G (p.Thr12812=)
c.20199T>G (p.Thr6733=)
c.10053T>G (p.Thr3351=)
2g.178618047A>GCA430274459TTN,TTN-AS1c.39600T>C (p.Thr13200=)
c.20685T>C (p.Thr6895=)
c.20484T>C (p.Thr6828=)
c.20109T>C (p.Thr6703=)
c.47304T>C (p.Thr15768=)
c.42381T>C (p.Thr14127=)
n.1605-1706A>G
c.46401T>C (p.Thr15467=)
c.20295T>C (p.Thr6765=)
c.20154T>C (p.Thr6718=)
c.46197T>C (p.Thr15399=)
c.41595T>C (p.Thr13865=)
c.41592T>C (p.Thr13864=)
c.38634T>C (p.Thr12878=)
c.20250T>C (p.Thr6750=)
c.41745T>C (p.Thr13915=)
c.41742T>C (p.Thr13914=)
c.41175T>C (p.Thr13725=)
c.38517T>C (p.Thr12839=)
c.38436T>C (p.Thr12812=)
c.20199T>C (p.Thr6733=)
c.10053T>C (p.Thr3351=)
2g.178618047A>TCA430274460TTN,TTN-AS1c.39600T>A (p.Thr13200=)
c.20685T>A (p.Thr6895=)
c.20484T>A (p.Thr6828=)
c.20109T>A (p.Thr6703=)
c.47304T>A (p.Thr15768=)
c.42381T>A (p.Thr14127=)
n.1605-1706A>T
c.46401T>A (p.Thr15467=)
c.20295T>A (p.Thr6765=)
c.20154T>A (p.Thr6718=)
c.46197T>A (p.Thr15399=)
c.41595T>A (p.Thr13865=)
c.41592T>A (p.Thr13864=)
c.38634T>A (p.Thr12878=)
c.20250T>A (p.Thr6750=)
c.41745T>A (p.Thr13915=)
c.41742T>A (p.Thr13914=)
c.41175T>A (p.Thr13725=)
c.38517T>A (p.Thr12839=)
c.38436T>A (p.Thr12812=)
c.20199T>A (p.Thr6733=)
c.10053T>A (p.Thr3351=)
 gnomAD v4
2g.178618048G>ACA349618102TTN,TTN-AS1c.39599C>T (p.Thr13200Ile)
c.20684C>T (p.Thr6895Ile)
c.20483C>T (p.Thr6828Ile)
c.20108C>T (p.Thr6703Ile)
c.47303C>T (p.Thr15768Ile)
c.42380C>T (p.Thr14127Ile)
n.1605-1705G>A
c.46400C>T (p.Thr15467Ile)
c.20294C>T (p.Thr6765Ile)
c.20153C>T (p.Thr6718Ile)
c.46196C>T (p.Thr15399Ile)
c.41594C>T (p.Thr13865Ile)
c.41591C>T (p.Thr13864Ile)
c.38633C>T (p.Thr12878Ile)
c.20249C>T (p.Thr6750Ile)
c.41744C>T (p.Thr13915Ile)
c.41741C>T (p.Thr13914Ile)
c.41174C>T (p.Thr13725Ile)
c.38516C>T (p.Thr12839Ile)
c.38435C>T (p.Thr12812Ile)
c.20198C>T (p.Thr6733Ile)
c.10052C>T (p.Thr3351Ile)
2g.178618048G>CCA349618104TTN,TTN-AS1c.39599C>G (p.Thr13200Ser)
c.20684C>G (p.Thr6895Ser)
c.20483C>G (p.Thr6828Ser)
c.20108C>G (p.Thr6703Ser)
c.47303C>G (p.Thr15768Ser)
c.42380C>G (p.Thr14127Ser)
n.1605-1705G>C
c.46400C>G (p.Thr15467Ser)
c.20294C>G (p.Thr6765Ser)
c.20153C>G (p.Thr6718Ser)
c.46196C>G (p.Thr15399Ser)
c.41594C>G (p.Thr13865Ser)
c.41591C>G (p.Thr13864Ser)
c.38633C>G (p.Thr12878Ser)
c.20249C>G (p.Thr6750Ser)
c.41744C>G (p.Thr13915Ser)
c.41741C>G (p.Thr13914Ser)
c.41174C>G (p.Thr13725Ser)
c.38516C>G (p.Thr12839Ser)
c.38435C>G (p.Thr12812Ser)
c.20198C>G (p.Thr6733Ser)
c.10052C>G (p.Thr3351Ser)
2g.178618048G>TCA349618100TTN,TTN-AS1c.39599C>A (p.Thr13200Asn)
c.20684C>A (p.Thr6895Asn)
c.20483C>A (p.Thr6828Asn)
c.20108C>A (p.Thr6703Asn)
c.47303C>A (p.Thr15768Asn)
c.42380C>A (p.Thr14127Asn)
n.1605-1705G>T
c.46400C>A (p.Thr15467Asn)
c.20294C>A (p.Thr6765Asn)
c.20153C>A (p.Thr6718Asn)
c.46196C>A (p.Thr15399Asn)
c.41594C>A (p.Thr13865Asn)
c.41591C>A (p.Thr13864Asn)
c.38633C>A (p.Thr12878Asn)
c.20249C>A (p.Thr6750Asn)
c.41744C>A (p.Thr13915Asn)
c.41741C>A (p.Thr13914Asn)
c.41174C>A (p.Thr13725Asn)
c.38516C>A (p.Thr12839Asn)
c.38435C>A (p.Thr12812Asn)
c.20198C>A (p.Thr6733Asn)
c.10052C>A (p.Thr3351Asn)
2g.178618049T>ACA349618108TTN,TTN-AS1c.39598A>T (p.Thr13200Ser)
c.20683A>T (p.Thr6895Ser)
c.20482A>T (p.Thr6828Ser)
c.20107A>T (p.Thr6703Ser)
c.47302A>T (p.Thr15768Ser)
c.42379A>T (p.Thr14127Ser)
n.1605-1704T>A
c.46399A>T (p.Thr15467Ser)
c.20293A>T (p.Thr6765Ser)
c.20152A>T (p.Thr6718Ser)
c.46195A>T (p.Thr15399Ser)
c.41593A>T (p.Thr13865Ser)
c.41590A>T (p.Thr13864Ser)
c.38632A>T (p.Thr12878Ser)
c.20248A>T (p.Thr6750Ser)
c.41743A>T (p.Thr13915Ser)
c.41740A>T (p.Thr13914Ser)
c.41173A>T (p.Thr13725Ser)
c.38515A>T (p.Thr12839Ser)
c.38434A>T (p.Thr12812Ser)
c.20197A>T (p.Thr6733Ser)
c.10051A>T (p.Thr3351Ser)
2g.178618049T>CCA349618118TTN,TTN-AS1c.39598A>G (p.Thr13200Ala)
c.20683A>G (p.Thr6895Ala)
c.20482A>G (p.Thr6828Ala)
c.20107A>G (p.Thr6703Ala)
c.47302A>G (p.Thr15768Ala)
c.42379A>G (p.Thr14127Ala)
n.1605-1704T>C
c.46399A>G (p.Thr15467Ala)
c.20293A>G (p.Thr6765Ala)
c.20152A>G (p.Thr6718Ala)
c.46195A>G (p.Thr15399Ala)
c.41593A>G (p.Thr13865Ala)
c.41590A>G (p.Thr13864Ala)
c.38632A>G (p.Thr12878Ala)
c.20248A>G (p.Thr6750Ala)
c.41743A>G (p.Thr13915Ala)
c.41740A>G (p.Thr13914Ala)
c.41173A>G (p.Thr13725Ala)
c.38515A>G (p.Thr12839Ala)
c.38434A>G (p.Thr12812Ala)
c.20197A>G (p.Thr6733Ala)
c.10051A>G (p.Thr3351Ala)
 gnomAD v4
2g.178618049T>GCA349618121TTN,TTN-AS1c.39598A>C (p.Thr13200Pro)
c.20683A>C (p.Thr6895Pro)
c.20482A>C (p.Thr6828Pro)
c.20107A>C (p.Thr6703Pro)
c.47302A>C (p.Thr15768Pro)
c.42379A>C (p.Thr14127Pro)
n.1605-1704T>G
c.46399A>C (p.Thr15467Pro)
c.20293A>C (p.Thr6765Pro)
c.20152A>C (p.Thr6718Pro)
c.46195A>C (p.Thr15399Pro)
c.41593A>C (p.Thr13865Pro)
c.41590A>C (p.Thr13864Pro)
c.38632A>C (p.Thr12878Pro)
c.20248A>C (p.Thr6750Pro)
c.41743A>C (p.Thr13915Pro)
c.41740A>C (p.Thr13914Pro)
c.41173A>C (p.Thr13725Pro)
c.38515A>C (p.Thr12839Pro)
c.38434A>C (p.Thr12812Pro)
c.20197A>C (p.Thr6733Pro)
c.10051A>C (p.Thr3351Pro)
2g.178618050G>ACA430274470TTN,TTN-AS1c.39597C>T (p.Ile13199=)
c.20682C>T (p.Ile6894=)
c.20481C>T (p.Ile6827=)
c.20106C>T (p.Ile6702=)
c.47301C>T (p.Ile15767=)
c.42378C>T (p.Ile14126=)
n.1605-1703G>A
c.46398C>T (p.Ile15466=)
c.20292C>T (p.Ile6764=)
c.20151C>T (p.Ile6717=)
c.46194C>T (p.Ile15398=)
c.41592C>T (p.Ile13864=)
c.41589C>T (p.Ile13863=)
c.38631C>T (p.Ile12877=)
c.20247C>T (p.Ile6749=)
c.41742C>T (p.Ile13914=)
c.41739C>T (p.Ile13913=)
c.41172C>T (p.Ile13724=)
c.38514C>T (p.Ile12838=)
c.38433C>T (p.Ile12811=)
c.20196C>T (p.Ile6732=)
c.10050C>T (p.Ile3350=)
 gnomAD v4
2g.178618050G>CCA349618131TTN,TTN-AS1c.39597C>G (p.Ile13199Met)
c.20682C>G (p.Ile6894Met)
c.20481C>G (p.Ile6827Met)
c.20106C>G (p.Ile6702Met)
c.47301C>G (p.Ile15767Met)
c.42378C>G (p.Ile14126Met)
n.1605-1703G>C
c.46398C>G (p.Ile15466Met)
c.20292C>G (p.Ile6764Met)
c.20151C>G (p.Ile6717Met)
c.46194C>G (p.Ile15398Met)
c.41592C>G (p.Ile13864Met)
c.41589C>G (p.Ile13863Met)
c.38631C>G (p.Ile12877Met)
c.20247C>G (p.Ile6749Met)
c.41742C>G (p.Ile13914Met)
c.41739C>G (p.Ile13913Met)
c.41172C>G (p.Ile13724Met)
c.38514C>G (p.Ile12838Met)
c.38433C>G (p.Ile12811Met)
c.20196C>G (p.Ile6732Met)
c.10050C>G (p.Ile3350Met)
2g.178618050G>TCA430274468TTN,TTN-AS1c.39597C>A (p.Ile13199=)
c.20682C>A (p.Ile6894=)
c.20481C>A (p.Ile6827=)
c.20106C>A (p.Ile6702=)
c.47301C>A (p.Ile15767=)
c.42378C>A (p.Ile14126=)
n.1605-1703G>T
c.46398C>A (p.Ile15466=)
c.20292C>A (p.Ile6764=)
c.20151C>A (p.Ile6717=)
c.46194C>A (p.Ile15398=)
c.41592C>A (p.Ile13864=)
c.41589C>A (p.Ile13863=)
c.38631C>A (p.Ile12877=)
c.20247C>A (p.Ile6749=)
c.41742C>A (p.Ile13914=)
c.41739C>A (p.Ile13913=)
c.41172C>A (p.Ile13724=)
c.38514C>A (p.Ile12838=)
c.38433C>A (p.Ile12811=)
c.20196C>A (p.Ile6732=)
c.10050C>A (p.Ile3350=)
2g.178618051A>CCA349618152TTN,TTN-AS1c.39596T>G (p.Ile13199Ser)
c.20681T>G (p.Ile6894Ser)
c.20480T>G (p.Ile6827Ser)
c.20105T>G (p.Ile6702Ser)
c.47300T>G (p.Ile15767Ser)
c.42377T>G (p.Ile14126Ser)
n.1605-1702A>C
c.46397T>G (p.Ile15466Ser)
c.20291T>G (p.Ile6764Ser)
c.20150T>G (p.Ile6717Ser)
c.46193T>G (p.Ile15398Ser)
c.41591T>G (p.Ile13864Ser)
c.41588T>G (p.Ile13863Ser)
c.38630T>G (p.Ile12877Ser)
c.20246T>G (p.Ile6749Ser)
c.41741T>G (p.Ile13914Ser)
c.41738T>G (p.Ile13913Ser)
c.41171T>G (p.Ile13724Ser)
c.38513T>G (p.Ile12838Ser)
c.38432T>G (p.Ile12811Ser)
c.20195T>G (p.Ile6732Ser)
c.10049T>G (p.Ile3350Ser)
2g.178618051A>GCA349618148TTN,TTN-AS1c.39596T>C (p.Ile13199Thr)
c.20681T>C (p.Ile6894Thr)
c.20480T>C (p.Ile6827Thr)
c.20105T>C (p.Ile6702Thr)
c.47300T>C (p.Ile15767Thr)
c.42377T>C (p.Ile14126Thr)
n.1605-1702A>G
c.46397T>C (p.Ile15466Thr)
c.20291T>C (p.Ile6764Thr)
c.20150T>C (p.Ile6717Thr)
c.46193T>C (p.Ile15398Thr)
c.41591T>C (p.Ile13864Thr)
c.41588T>C (p.Ile13863Thr)
c.38630T>C (p.Ile12877Thr)
c.20246T>C (p.Ile6749Thr)
c.41741T>C (p.Ile13914Thr)
c.41738T>C (p.Ile13913Thr)
c.41171T>C (p.Ile13724Thr)
c.38513T>C (p.Ile12838Thr)
c.38432T>C (p.Ile12811Thr)
c.20195T>C (p.Ile6732Thr)
c.10049T>C (p.Ile3350Thr)
2g.178618051A>TCA349618144TTN,TTN-AS1c.39596T>A (p.Ile13199Asn)
c.20681T>A (p.Ile6894Asn)
c.20480T>A (p.Ile6827Asn)
c.20105T>A (p.Ile6702Asn)
c.47300T>A (p.Ile15767Asn)
c.42377T>A (p.Ile14126Asn)
n.1605-1702A>T
c.46397T>A (p.Ile15466Asn)
c.20291T>A (p.Ile6764Asn)
c.20150T>A (p.Ile6717Asn)
c.46193T>A (p.Ile15398Asn)
c.41591T>A (p.Ile13864Asn)
c.41588T>A (p.Ile13863Asn)
c.38630T>A (p.Ile12877Asn)
c.20246T>A (p.Ile6749Asn)
c.41741T>A (p.Ile13914Asn)
c.41738T>A (p.Ile13913Asn)
c.41171T>A (p.Ile13724Asn)
c.38513T>A (p.Ile12838Asn)
c.38432T>A (p.Ile12811Asn)
c.20195T>A (p.Ile6732Asn)
c.10049T>A (p.Ile3350Asn)
2g.178618052T>ACA349618162TTN,TTN-AS1c.39595A>T (p.Ile13199Phe)
c.20680A>T (p.Ile6894Phe)
c.20479A>T (p.Ile6827Phe)
c.20104A>T (p.Ile6702Phe)
c.47299A>T (p.Ile15767Phe)
c.42376A>T (p.Ile14126Phe)
n.1605-1701T>A
c.46396A>T (p.Ile15466Phe)
c.20290A>T (p.Ile6764Phe)
c.20149A>T (p.Ile6717Phe)
c.46192A>T (p.Ile15398Phe)
c.41590A>T (p.Ile13864Phe)
c.41587A>T (p.Ile13863Phe)
c.38629A>T (p.Ile12877Phe)
c.20245A>T (p.Ile6749Phe)
c.41740A>T (p.Ile13914Phe)
c.41737A>T (p.Ile13913Phe)
c.41170A>T (p.Ile13724Phe)
c.38512A>T (p.Ile12838Phe)
c.38431A>T (p.Ile12811Phe)
c.20194A>T (p.Ile6732Phe)
c.10048A>T (p.Ile3350Phe)
2g.178618052T>CCA349618165TTN,TTN-AS1c.39595A>G (p.Ile13199Val)
c.20680A>G (p.Ile6894Val)
c.20479A>G (p.Ile6827Val)
c.20104A>G (p.Ile6702Val)
c.47299A>G (p.Ile15767Val)
c.42376A>G (p.Ile14126Val)
n.1605-1701T>C
c.46396A>G (p.Ile15466Val)
c.20290A>G (p.Ile6764Val)
c.20149A>G (p.Ile6717Val)
c.46192A>G (p.Ile15398Val)
c.41590A>G (p.Ile13864Val)
c.41587A>G (p.Ile13863Val)
c.38629A>G (p.Ile12877Val)
c.20245A>G (p.Ile6749Val)
c.41740A>G (p.Ile13914Val)
c.41737A>G (p.Ile13913Val)
c.41170A>G (p.Ile13724Val)
c.38512A>G (p.Ile12838Val)
c.38431A>G (p.Ile12811Val)
c.20194A>G (p.Ile6732Val)
c.10048A>G (p.Ile3350Val)
2g.178618052T>GCA349618169TTN,TTN-AS1c.39595A>C (p.Ile13199Leu)
c.20680A>C (p.Ile6894Leu)
c.20479A>C (p.Ile6827Leu)
c.20104A>C (p.Ile6702Leu)
c.47299A>C (p.Ile15767Leu)
c.42376A>C (p.Ile14126Leu)
n.1605-1701T>G
c.46396A>C (p.Ile15466Leu)
c.20290A>C (p.Ile6764Leu)
c.20149A>C (p.Ile6717Leu)
c.46192A>C (p.Ile15398Leu)
c.41590A>C (p.Ile13864Leu)
c.41587A>C (p.Ile13863Leu)
c.38629A>C (p.Ile12877Leu)
c.20245A>C (p.Ile6749Leu)
c.41740A>C (p.Ile13914Leu)
c.41737A>C (p.Ile13913Leu)
c.41170A>C (p.Ile13724Leu)
c.38512A>C (p.Ile12838Leu)
c.38431A>C (p.Ile12811Leu)
c.20194A>C (p.Ile6732Leu)
c.10048A>C (p.Ile3350Leu)
2g.178618053G>ACA430274473TTN,TTN-AS1c.39594C>T (p.Thr13198=)
c.20679C>T (p.Thr6893=)
c.20478C>T (p.Thr6826=)
c.20103C>T (p.Thr6701=)
c.47298C>T (p.Thr15766=)
c.42375C>T (p.Thr14125=)
n.1605-1700G>A
c.46395C>T (p.Thr15465=)
c.20289C>T (p.Thr6763=)
c.20148C>T (p.Thr6716=)
c.46191C>T (p.Thr15397=)
c.41589C>T (p.Thr13863=)
c.41586C>T (p.Thr13862=)
c.38628C>T (p.Thr12876=)
c.20244C>T (p.Thr6748=)
c.41739C>T (p.Thr13913=)
c.41736C>T (p.Thr13912=)
c.41169C>T (p.Thr13723=)
c.38511C>T (p.Thr12837=)
c.38430C>T (p.Thr12810=)
c.20193C>T (p.Thr6731=)
c.10047C>T (p.Thr3349=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178618053G>CCA430274474TTN,TTN-AS1c.39594C>G (p.Thr13198=)
c.20679C>G (p.Thr6893=)
c.20478C>G (p.Thr6826=)
c.20103C>G (p.Thr6701=)
c.47298C>G (p.Thr15766=)
c.42375C>G (p.Thr14125=)
n.1605-1700G>C
c.46395C>G (p.Thr15465=)
c.20289C>G (p.Thr6763=)
c.20148C>G (p.Thr6716=)
c.46191C>G (p.Thr15397=)
c.41589C>G (p.Thr13863=)
c.41586C>G (p.Thr13862=)
c.38628C>G (p.Thr12876=)
c.20244C>G (p.Thr6748=)
c.41739C>G (p.Thr13913=)
c.41736C>G (p.Thr13912=)
c.41169C>G (p.Thr13723=)
c.38511C>G (p.Thr12837=)
c.38430C>G (p.Thr12810=)
c.20193C>G (p.Thr6731=)
c.10047C>G (p.Thr3349=)
2g.178618053G=CA1310550889TTN,TTN-AS1c.39594C= (p.Thr13198=)
c.20679C= (p.Thr6893=)
c.20478C= (p.Thr6826=)
c.20103C= (p.Thr6701=)
c.47298C= (p.Thr15766=)
c.42375C= (p.Thr14125=)
n.1605-1700G=
c.46395C= (p.Thr15465=)
c.20289C= (p.Thr6763=)
c.20148C= (p.Thr6716=)
c.46191C= (p.Thr15397=)
c.41589C= (p.Thr13863=)
c.41586C= (p.Thr13862=)
c.38628C= (p.Thr12876=)
c.20244C= (p.Thr6748=)
c.41739C= (p.Thr13913=)
c.41736C= (p.Thr13912=)
c.41169C= (p.Thr13723=)
c.38511C= (p.Thr12837=)
c.38430C= (p.Thr12810=)
c.20193C= (p.Thr6731=)
c.10047C= (p.Thr3349=)
2g.178618053G>TCA430274476TTN,TTN-AS1c.39594C>A (p.Thr13198=)
c.20679C>A (p.Thr6893=)
c.20478C>A (p.Thr6826=)
c.20103C>A (p.Thr6701=)
c.47298C>A (p.Thr15766=)
c.42375C>A (p.Thr14125=)
n.1605-1700G>T
c.46395C>A (p.Thr15465=)
c.20289C>A (p.Thr6763=)
c.20148C>A (p.Thr6716=)
c.46191C>A (p.Thr15397=)
c.41589C>A (p.Thr13863=)
c.41586C>A (p.Thr13862=)
c.38628C>A (p.Thr12876=)
c.20244C>A (p.Thr6748=)
c.41739C>A (p.Thr13913=)
c.41736C>A (p.Thr13912=)
c.41169C>A (p.Thr13723=)
c.38511C>A (p.Thr12837=)
c.38430C>A (p.Thr12810=)
c.20193C>A (p.Thr6731=)
c.10047C>A (p.Thr3349=)
2g.178618054G>ACA349618174TTN,TTN-AS1c.39593C>T (p.Thr13198Ile)
c.20678C>T (p.Thr6893Ile)
c.20477C>T (p.Thr6826Ile)
c.20102C>T (p.Thr6701Ile)
c.47297C>T (p.Thr15766Ile)
c.42374C>T (p.Thr14125Ile)
n.1605-1699G>A
c.46394C>T (p.Thr15465Ile)
c.20288C>T (p.Thr6763Ile)
c.20147C>T (p.Thr6716Ile)
c.46190C>T (p.Thr15397Ile)
c.41588C>T (p.Thr13863Ile)
c.41585C>T (p.Thr13862Ile)
c.38627C>T (p.Thr12876Ile)
c.20243C>T (p.Thr6748Ile)
c.41738C>T (p.Thr13913Ile)
c.41735C>T (p.Thr13912Ile)
c.41168C>T (p.Thr13723Ile)
c.38510C>T (p.Thr12837Ile)
c.38429C>T (p.Thr12810Ile)
c.20192C>T (p.Thr6731Ile)
c.10046C>T (p.Thr3349Ile)
 gnomAD v4
2g.178618054G>CCA349618178TTN,TTN-AS1c.39593C>G (p.Thr13198Ser)
c.20678C>G (p.Thr6893Ser)
c.20477C>G (p.Thr6826Ser)
c.20102C>G (p.Thr6701Ser)
c.47297C>G (p.Thr15766Ser)
c.42374C>G (p.Thr14125Ser)
n.1605-1699G>C
c.46394C>G (p.Thr15465Ser)
c.20288C>G (p.Thr6763Ser)
c.20147C>G (p.Thr6716Ser)
c.46190C>G (p.Thr15397Ser)
c.41588C>G (p.Thr13863Ser)
c.41585C>G (p.Thr13862Ser)
c.38627C>G (p.Thr12876Ser)
c.20243C>G (p.Thr6748Ser)
c.41738C>G (p.Thr13913Ser)
c.41735C>G (p.Thr13912Ser)
c.41168C>G (p.Thr13723Ser)
c.38510C>G (p.Thr12837Ser)
c.38429C>G (p.Thr12810Ser)
c.20192C>G (p.Thr6731Ser)
c.10046C>G (p.Thr3349Ser)
2g.178618054G=CA1310550890TTN,TTN-AS1c.39593C= (p.Thr13198=)
c.20678C= (p.Thr6893=)
c.20477C= (p.Thr6826=)
c.20102C= (p.Thr6701=)
c.47297C= (p.Thr15766=)
c.42374C= (p.Thr14125=)
n.1605-1699G=
c.46394C= (p.Thr15465=)
c.20288C= (p.Thr6763=)
c.20147C= (p.Thr6716=)
c.46190C= (p.Thr15397=)
c.41588C= (p.Thr13863=)
c.41585C= (p.Thr13862=)
c.38627C= (p.Thr12876=)
c.20243C= (p.Thr6748=)
c.41738C= (p.Thr13913=)
c.41735C= (p.Thr13912=)
c.41168C= (p.Thr13723=)
c.38510C= (p.Thr12837=)
c.38429C= (p.Thr12810=)
c.20192C= (p.Thr6731=)
c.10046C= (p.Thr3349=)
2g.178618054G>TCA1995068TTN,TTN-AS1c.39593C>A (p.Thr13198Asn)
c.20678C>A (p.Thr6893Asn)
c.20477C>A (p.Thr6826Asn)
c.20102C>A (p.Thr6701Asn)
c.47297C>A (p.Thr15766Asn)
c.42374C>A (p.Thr14125Asn)
n.1605-1699G>T
c.46394C>A (p.Thr15465Asn)
c.20288C>A (p.Thr6763Asn)
c.20147C>A (p.Thr6716Asn)
c.46190C>A (p.Thr15397Asn)
c.41588C>A (p.Thr13863Asn)
c.41585C>A (p.Thr13862Asn)
c.38627C>A (p.Thr12876Asn)
c.20243C>A (p.Thr6748Asn)
c.41738C>A (p.Thr13913Asn)
c.41735C>A (p.Thr13912Asn)
c.41168C>A (p.Thr13723Asn)
c.38510C>A (p.Thr12837Asn)
c.38429C>A (p.Thr12810Asn)
c.20192C>A (p.Thr6731Asn)
c.10046C>A (p.Thr3349Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618055T>ACA10581867TTN,TTN-AS1c.39592A>T (p.Thr13198Ser)
c.20677A>T (p.Thr6893Ser)
c.20476A>T (p.Thr6826Ser)
c.20101A>T (p.Thr6701Ser)
c.47296A>T (p.Thr15766Ser)
c.42373A>T (p.Thr14125Ser)
n.1605-1698T>A
c.46393A>T (p.Thr15465Ser)
c.20287A>T (p.Thr6763Ser)
c.20146A>T (p.Thr6716Ser)
c.46189A>T (p.Thr15397Ser)
c.41587A>T (p.Thr13863Ser)
c.41584A>T (p.Thr13862Ser)
c.38626A>T (p.Thr12876Ser)
c.20242A>T (p.Thr6748Ser)
c.41737A>T (p.Thr13913Ser)
c.41734A>T (p.Thr13912Ser)
c.41167A>T (p.Thr13723Ser)
c.38509A>T (p.Thr12837Ser)
c.38428A>T (p.Thr12810Ser)
c.20191A>T (p.Thr6731Ser)
c.10045A>T (p.Thr3349Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178618055T>CCA349618186TTN,TTN-AS1c.39592A>G (p.Thr13198Ala)
c.20677A>G (p.Thr6893Ala)
c.20476A>G (p.Thr6826Ala)
c.20101A>G (p.Thr6701Ala)
c.47296A>G (p.Thr15766Ala)
c.42373A>G (p.Thr14125Ala)
n.1605-1698T>C
c.46393A>G (p.Thr15465Ala)
c.20287A>G (p.Thr6763Ala)
c.20146A>G (p.Thr6716Ala)
c.46189A>G (p.Thr15397Ala)
c.41587A>G (p.Thr13863Ala)
c.41584A>G (p.Thr13862Ala)
c.38626A>G (p.Thr12876Ala)
c.20242A>G (p.Thr6748Ala)
c.41737A>G (p.Thr13913Ala)
c.41734A>G (p.Thr13912Ala)
c.41167A>G (p.Thr13723Ala)
c.38509A>G (p.Thr12837Ala)
c.38428A>G (p.Thr12810Ala)
c.20191A>G (p.Thr6731Ala)
c.10045A>G (p.Thr3349Ala)
2g.178618055T>GCA349618189TTN,TTN-AS1c.39592A>C (p.Thr13198Pro)
c.20677A>C (p.Thr6893Pro)
c.20476A>C (p.Thr6826Pro)
c.20101A>C (p.Thr6701Pro)
c.47296A>C (p.Thr15766Pro)
c.42373A>C (p.Thr14125Pro)
n.1605-1698T>G
c.46393A>C (p.Thr15465Pro)
c.20287A>C (p.Thr6763Pro)
c.20146A>C (p.Thr6716Pro)
c.46189A>C (p.Thr15397Pro)
c.41587A>C (p.Thr13863Pro)
c.41584A>C (p.Thr13862Pro)
c.38626A>C (p.Thr12876Pro)
c.20242A>C (p.Thr6748Pro)
c.41737A>C (p.Thr13913Pro)
c.41734A>C (p.Thr13912Pro)
c.41167A>C (p.Thr13723Pro)
c.38509A>C (p.Thr12837Pro)
c.38428A>C (p.Thr12810Pro)
c.20191A>C (p.Thr6731Pro)
c.10045A>C (p.Thr3349Pro)
2g.178618055T=CA1310550891TTN,TTN-AS1c.39592A= (p.Thr13198=)
c.20677A= (p.Thr6893=)
c.20476A= (p.Thr6826=)
c.20101A= (p.Thr6701=)
c.47296A= (p.Thr15766=)
c.42373A= (p.Thr14125=)
n.1605-1698T=
c.46393A= (p.Thr15465=)
c.20287A= (p.Thr6763=)
c.20146A= (p.Thr6716=)
c.46189A= (p.Thr15397=)
c.41587A= (p.Thr13863=)
c.41584A= (p.Thr13862=)
c.38626A= (p.Thr12876=)
c.20242A= (p.Thr6748=)
c.41737A= (p.Thr13913=)
c.41734A= (p.Thr13912=)
c.41167A= (p.Thr13723=)
c.38509A= (p.Thr12837=)
c.38428A= (p.Thr12810=)
c.20191A= (p.Thr6731=)
c.10045A= (p.Thr3349=)
2g.178618056T>ACA430274488TTN,TTN-AS1c.39591A>T (p.Val13197=)
c.20676A>T (p.Val6892=)
c.20475A>T (p.Val6825=)
c.20100A>T (p.Val6700=)
c.47295A>T (p.Val15765=)
c.42372A>T (p.Val14124=)
n.1605-1697T>A
c.46392A>T (p.Val15464=)
c.20286A>T (p.Val6762=)
c.20145A>T (p.Val6715=)
c.46188A>T (p.Val15396=)
c.41586A>T (p.Val13862=)
c.41583A>T (p.Val13861=)
c.38625A>T (p.Val12875=)
c.20241A>T (p.Val6747=)
c.41736A>T (p.Val13912=)
c.41733A>T (p.Val13911=)
c.41166A>T (p.Val13722=)
c.38508A>T (p.Val12836=)
c.38427A>T (p.Val12809=)
c.20190A>T (p.Val6730=)
c.10044A>T (p.Val3348=)
 dbSNP gnomAD v4
2g.178618056T>CCA430274491TTN,TTN-AS1c.39591A>G (p.Val13197=)
c.20676A>G (p.Val6892=)
c.20475A>G (p.Val6825=)
c.20100A>G (p.Val6700=)
c.47295A>G (p.Val15765=)
c.42372A>G (p.Val14124=)
n.1605-1697T>C
c.46392A>G (p.Val15464=)
c.20286A>G (p.Val6762=)
c.20145A>G (p.Val6715=)
c.46188A>G (p.Val15396=)
c.41586A>G (p.Val13862=)
c.41583A>G (p.Val13861=)
c.38625A>G (p.Val12875=)
c.20241A>G (p.Val6747=)
c.41736A>G (p.Val13912=)
c.41733A>G (p.Val13911=)
c.41166A>G (p.Val13722=)
c.38508A>G (p.Val12836=)
c.38427A>G (p.Val12809=)
c.20190A>G (p.Val6730=)
c.10044A>G (p.Val3348=)
2g.178618056T>GCA430274492TTN,TTN-AS1c.39591A>C (p.Val13197=)
c.20676A>C (p.Val6892=)
c.20475A>C (p.Val6825=)
c.20100A>C (p.Val6700=)
c.47295A>C (p.Val15765=)
c.42372A>C (p.Val14124=)
n.1605-1697T>G
c.46392A>C (p.Val15464=)
c.20286A>C (p.Val6762=)
c.20145A>C (p.Val6715=)
c.46188A>C (p.Val15396=)
c.41586A>C (p.Val13862=)
c.41583A>C (p.Val13861=)
c.38625A>C (p.Val12875=)
c.20241A>C (p.Val6747=)
c.41736A>C (p.Val13912=)
c.41733A>C (p.Val13911=)
c.41166A>C (p.Val13722=)
c.38508A>C (p.Val12836=)
c.38427A>C (p.Val12809=)
c.20190A>C (p.Val6730=)
c.10044A>C (p.Val3348=)
2g.178618056T=CA1310550892TTN,TTN-AS1c.39591A= (p.Val13197=)
c.20676A= (p.Val6892=)
c.20475A= (p.Val6825=)
c.20100A= (p.Val6700=)
c.47295A= (p.Val15765=)
c.42372A= (p.Val14124=)
n.1605-1697T=
c.46392A= (p.Val15464=)
c.20286A= (p.Val6762=)
c.20145A= (p.Val6715=)
c.46188A= (p.Val15396=)
c.41586A= (p.Val13862=)
c.41583A= (p.Val13861=)
c.38625A= (p.Val12875=)
c.20241A= (p.Val6747=)
c.41736A= (p.Val13912=)
c.41733A= (p.Val13911=)
c.41166A= (p.Val13722=)
c.38508A= (p.Val12836=)
c.38427A= (p.Val12809=)
c.20190A= (p.Val6730=)
c.10044A= (p.Val3348=)
2g.178618057A>CCA349618197TTN,TTN-AS1c.39590T>G (p.Val13197Gly)
c.20675T>G (p.Val6892Gly)
c.20474T>G (p.Val6825Gly)
c.20099T>G (p.Val6700Gly)
c.47294T>G (p.Val15765Gly)
c.42371T>G (p.Val14124Gly)
n.1605-1696A>C
c.46391T>G (p.Val15464Gly)
c.20285T>G (p.Val6762Gly)
c.20144T>G (p.Val6715Gly)
c.46187T>G (p.Val15396Gly)
c.41585T>G (p.Val13862Gly)
c.41582T>G (p.Val13861Gly)
c.38624T>G (p.Val12875Gly)
c.20240T>G (p.Val6747Gly)
c.41735T>G (p.Val13912Gly)
c.41732T>G (p.Val13911Gly)
c.41165T>G (p.Val13722Gly)
c.38507T>G (p.Val12836Gly)
c.38426T>G (p.Val12809Gly)
c.20189T>G (p.Val6730Gly)
c.10043T>G (p.Val3348Gly)
2g.178618057A>GCA349618201TTN,TTN-AS1c.39590T>C (p.Val13197Ala)
c.20675T>C (p.Val6892Ala)
c.20474T>C (p.Val6825Ala)
c.20099T>C (p.Val6700Ala)
c.47294T>C (p.Val15765Ala)
c.42371T>C (p.Val14124Ala)
n.1605-1696A>G
c.46391T>C (p.Val15464Ala)
c.20285T>C (p.Val6762Ala)
c.20144T>C (p.Val6715Ala)
c.46187T>C (p.Val15396Ala)
c.41585T>C (p.Val13862Ala)
c.41582T>C (p.Val13861Ala)
c.38624T>C (p.Val12875Ala)
c.20240T>C (p.Val6747Ala)
c.41735T>C (p.Val13912Ala)
c.41732T>C (p.Val13911Ala)
c.41165T>C (p.Val13722Ala)
c.38507T>C (p.Val12836Ala)
c.38426T>C (p.Val12809Ala)
c.20189T>C (p.Val6730Ala)
c.10043T>C (p.Val3348Ala)
2g.178618057A>TCA349618200TTN,TTN-AS1c.39590T>A (p.Val13197Glu)
c.20675T>A (p.Val6892Glu)
c.20474T>A (p.Val6825Glu)
c.20099T>A (p.Val6700Glu)
c.47294T>A (p.Val15765Glu)
c.42371T>A (p.Val14124Glu)
n.1605-1696A>T
c.46391T>A (p.Val15464Glu)
c.20285T>A (p.Val6762Glu)
c.20144T>A (p.Val6715Glu)
c.46187T>A (p.Val15396Glu)
c.41585T>A (p.Val13862Glu)
c.41582T>A (p.Val13861Glu)
c.38624T>A (p.Val12875Glu)
c.20240T>A (p.Val6747Glu)
c.41735T>A (p.Val13912Glu)
c.41732T>A (p.Val13911Glu)
c.41165T>A (p.Val13722Glu)
c.38507T>A (p.Val12836Glu)
c.38426T>A (p.Val12809Glu)
c.20189T>A (p.Val6730Glu)
c.10043T>A (p.Val3348Glu)
2g.178618058C>ACA349618202TTN,TTN-AS1c.39589G>T (p.Val13197Leu)
c.20674G>T (p.Val6892Leu)
c.20473G>T (p.Val6825Leu)
c.20098G>T (p.Val6700Leu)
c.47293G>T (p.Val15765Leu)
c.42370G>T (p.Val14124Leu)
n.1605-1695C>A
c.46390G>T (p.Val15464Leu)
c.20284G>T (p.Val6762Leu)
c.20143G>T (p.Val6715Leu)
c.46186G>T (p.Val15396Leu)
c.41584G>T (p.Val13862Leu)
c.41581G>T (p.Val13861Leu)
c.38623G>T (p.Val12875Leu)
c.20239G>T (p.Val6747Leu)
c.41734G>T (p.Val13912Leu)
c.41731G>T (p.Val13911Leu)
c.41164G>T (p.Val13722Leu)
c.38506G>T (p.Val12836Leu)
c.38425G>T (p.Val12809Leu)
c.20188G>T (p.Val6730Leu)
c.10042G>T (p.Val3348Leu)
2g.178618058C=CA1310550894TTN,TTN-AS1c.39589G= (p.Val13197=)
c.20674G= (p.Val6892=)
c.20473G= (p.Val6825=)
c.20098G= (p.Val6700=)
c.47293G= (p.Val15765=)
c.42370G= (p.Val14124=)
n.1605-1695C=
c.46390G= (p.Val15464=)
c.20284G= (p.Val6762=)
c.20143G= (p.Val6715=)
c.46186G= (p.Val15396=)
c.41584G= (p.Val13862=)
c.41581G= (p.Val13861=)
c.38623G= (p.Val12875=)
c.20239G= (p.Val6747=)
c.41734G= (p.Val13912=)
c.41731G= (p.Val13911=)
c.41164G= (p.Val13722=)
c.38506G= (p.Val12836=)
c.38425G= (p.Val12809=)
c.20188G= (p.Val6730=)
c.10042G= (p.Val3348=)
2g.178618058C>GCA349618206TTN,TTN-AS1c.39589G>C (p.Val13197Leu)
c.20674G>C (p.Val6892Leu)
c.20473G>C (p.Val6825Leu)
c.20098G>C (p.Val6700Leu)
c.47293G>C (p.Val15765Leu)
c.42370G>C (p.Val14124Leu)
n.1605-1695C>G
c.46390G>C (p.Val15464Leu)
c.20284G>C (p.Val6762Leu)
c.20143G>C (p.Val6715Leu)
c.46186G>C (p.Val15396Leu)
c.41584G>C (p.Val13862Leu)
c.41581G>C (p.Val13861Leu)
c.38623G>C (p.Val12875Leu)
c.20239G>C (p.Val6747Leu)
c.41734G>C (p.Val13912Leu)
c.41731G>C (p.Val13911Leu)
c.41164G>C (p.Val13722Leu)
c.38506G>C (p.Val12836Leu)
c.38425G>C (p.Val12809Leu)
c.20188G>C (p.Val6730Leu)
c.10042G>C (p.Val3348Leu)
2g.178618058C>TCA1995069TTN,TTN-AS1c.39589G>A (p.Val13197Ile)
c.20674G>A (p.Val6892Ile)
c.20473G>A (p.Val6825Ile)
c.20098G>A (p.Val6700Ile)
c.47293G>A (p.Val15765Ile)
c.42370G>A (p.Val14124Ile)
n.1605-1695C>T
c.46390G>A (p.Val15464Ile)
c.20284G>A (p.Val6762Ile)
c.20143G>A (p.Val6715Ile)
c.46186G>A (p.Val15396Ile)
c.41584G>A (p.Val13862Ile)
c.41581G>A (p.Val13861Ile)
c.38623G>A (p.Val12875Ile)
c.20239G>A (p.Val6747Ile)
c.41734G>A (p.Val13912Ile)
c.41731G>A (p.Val13911Ile)
c.41164G>A (p.Val13722Ile)
c.38506G>A (p.Val12836Ile)
c.38425G>A (p.Val12809Ile)
c.20188G>A (p.Val6730Ile)
c.10042G>A (p.Val3348Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618058_178618060delinsCATCA1310550893TTN,TTN-AS1c.39587_39589delinsATG (p.Asn13196=)
c.20672_20674delinsATG (p.Asn6891=)
c.20471_20473delinsATG (p.Asn6824=)
c.20096_20098delinsATG (p.Asn6699=)
c.47291_47293delinsATG (p.Asn15764=)
c.42368_42370delinsATG (p.Asn14123=)
n.1605-1695_1605-1693delinsCAT
c.46388_46390delinsATG (p.Asn15463=)
c.20282_20284delinsATG (p.Asn6761=)
c.20141_20143delinsATG (p.Asn6714=)
c.46184_46186delinsATG (p.Asn15395=)
c.41582_41584delinsATG (p.Asn13861=)
c.41579_41581delinsATG (p.Asn13860=)
c.38621_38623delinsATG (p.Asn12874=)
c.20237_20239delinsATG (p.Asn6746=)
c.41732_41734delinsATG (p.Asn13911=)
c.41729_41731delinsATG (p.Asn13910=)
c.41162_41164delinsATG (p.Asn13721=)
c.38504_38506delinsATG (p.Asn12835=)
c.38423_38425delinsATG (p.Asn12808=)
c.20186_20188delinsATG (p.Asn6729=)
c.10040_10042delinsATG (p.Asn3347=)
2g.178618059A=CA1310550895TTN,TTN-AS1c.39588T= (p.Asn13196=)
c.20673T= (p.Asn6891=)
c.20472T= (p.Asn6824=)
c.20097T= (p.Asn6699=)
c.47292T= (p.Asn15764=)
c.42369T= (p.Asn14123=)
n.1605-1694A=
c.46389T= (p.Asn15463=)
c.20283T= (p.Asn6761=)
c.20142T= (p.Asn6714=)
c.46185T= (p.Asn15395=)
c.41583T= (p.Asn13861=)
c.41580T= (p.Asn13860=)
c.38622T= (p.Asn12874=)
c.20238T= (p.Asn6746=)
c.41733T= (p.Asn13911=)
c.41730T= (p.Asn13910=)
c.41163T= (p.Asn13721=)
c.38505T= (p.Asn12835=)
c.38424T= (p.Asn12808=)
c.20187T= (p.Asn6729=)
c.10041T= (p.Asn3347=)
2g.178618059A>CCA349618209TTN,TTN-AS1c.39588T>G (p.Asn13196Lys)
c.20673T>G (p.Asn6891Lys)
c.20472T>G (p.Asn6824Lys)
c.20097T>G (p.Asn6699Lys)
c.47292T>G (p.Asn15764Lys)
c.42369T>G (p.Asn14123Lys)
n.1605-1694A>C
c.46389T>G (p.Asn15463Lys)
c.20283T>G (p.Asn6761Lys)
c.20142T>G (p.Asn6714Lys)
c.46185T>G (p.Asn15395Lys)
c.41583T>G (p.Asn13861Lys)
c.41580T>G (p.Asn13860Lys)
c.38622T>G (p.Asn12874Lys)
c.20238T>G (p.Asn6746Lys)
c.41733T>G (p.Asn13911Lys)
c.41730T>G (p.Asn13910Lys)
c.41163T>G (p.Asn13721Lys)
c.38505T>G (p.Asn12835Lys)
c.38424T>G (p.Asn12808Lys)
c.20187T>G (p.Asn6729Lys)
c.10041T>G (p.Asn3347Lys)
2g.178618059A>GCA1995071TTN,TTN-AS1c.39588T>C (p.Asn13196=)
c.20673T>C (p.Asn6891=)
c.20472T>C (p.Asn6824=)
c.20097T>C (p.Asn6699=)
c.47292T>C (p.Asn15764=)
c.42369T>C (p.Asn14123=)
n.1605-1694A>G
c.46389T>C (p.Asn15463=)
c.20283T>C (p.Asn6761=)
c.20142T>C (p.Asn6714=)
c.46185T>C (p.Asn15395=)
c.41583T>C (p.Asn13861=)
c.41580T>C (p.Asn13860=)
c.38622T>C (p.Asn12874=)
c.20238T>C (p.Asn6746=)
c.41733T>C (p.Asn13911=)
c.41730T>C (p.Asn13910=)
c.41163T>C (p.Asn13721=)
c.38505T>C (p.Asn12835=)
c.38424T>C (p.Asn12808=)
c.20187T>C (p.Asn6729=)
c.10041T>C (p.Asn3347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618059A>TCA349618216TTN,TTN-AS1c.39588T>A (p.Asn13196Lys)
c.20673T>A (p.Asn6891Lys)
c.20472T>A (p.Asn6824Lys)
c.20097T>A (p.Asn6699Lys)
c.47292T>A (p.Asn15764Lys)
c.42369T>A (p.Asn14123Lys)
n.1605-1694A>T
c.46389T>A (p.Asn15463Lys)
c.20283T>A (p.Asn6761Lys)
c.20142T>A (p.Asn6714Lys)
c.46185T>A (p.Asn15395Lys)
c.41583T>A (p.Asn13861Lys)
c.41580T>A (p.Asn13860Lys)
c.38622T>A (p.Asn12874Lys)
c.20238T>A (p.Asn6746Lys)
c.41733T>A (p.Asn13911Lys)
c.41730T>A (p.Asn13910Lys)
c.41163T>A (p.Asn13721Lys)
c.38505T>A (p.Asn12835Lys)
c.38424T>A (p.Asn12808Lys)
c.20187T>A (p.Asn6729Lys)
c.10041T>A (p.Asn3347Lys)
2g.178618059_178618060delCA1995070TTN,TTN-AS1c.39587_39588del (p.Asn13196SerfsTer5)
c.20672_20673del (p.Asn6891SerfsTer5)
c.20471_20472del (p.Asn6824SerfsTer5)
c.20096_20097del (p.Asn6699SerfsTer5)
c.47291_47292del (p.Asn15764SerfsTer5)
c.42368_42369del (p.Asn14123SerfsTer5)
n.1605-1694_1605-1693del
c.46388_46389del (p.Asn15463SerfsTer5)
c.20282_20283del (p.Asn6761SerfsTer5)
c.20141_20142del (p.Asn6714SerfsTer5)
c.46184_46185del (p.Asn15395SerfsTer5)
c.41582_41583del (p.Asn13861SerfsTer5)
c.41579_41580del (p.Asn13860SerfsTer5)
c.38621_38622del (p.Asn12874SerfsTer5)
c.20237_20238del (p.Asn6746SerfsTer5)
c.41732_41733del (p.Asn13911SerfsTer5)
c.41729_41730del (p.Asn13910SerfsTer5)
c.41162_41163del (p.Asn13721SerfsTer5)
c.38504_38505del (p.Asn12835SerfsTer5)
c.38423_38424del (p.Asn12808SerfsTer5)
c.20186_20187del (p.Asn6729SerfsTer5)
c.10040_10041del (p.Asn3347SerfsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618060T>ACA349618219TTN,TTN-AS1c.39587A>T (p.Asn13196Ile)
c.20672A>T (p.Asn6891Ile)
c.20471A>T (p.Asn6824Ile)
c.20096A>T (p.Asn6699Ile)
c.47291A>T (p.Asn15764Ile)
c.42368A>T (p.Asn14123Ile)
n.1605-1693T>A
c.46388A>T (p.Asn15463Ile)
c.20282A>T (p.Asn6761Ile)
c.20141A>T (p.Asn6714Ile)
c.46184A>T (p.Asn15395Ile)
c.41582A>T (p.Asn13861Ile)
c.41579A>T (p.Asn13860Ile)
c.38621A>T (p.Asn12874Ile)
c.20237A>T (p.Asn6746Ile)
c.41732A>T (p.Asn13911Ile)
c.41729A>T (p.Asn13910Ile)
c.41162A>T (p.Asn13721Ile)
c.38504A>T (p.Asn12835Ile)
c.38423A>T (p.Asn12808Ile)
c.20186A>T (p.Asn6729Ile)
c.10040A>T (p.Asn3347Ile)
2g.178618060T>CCA349618223TTN,TTN-AS1c.39587A>G (p.Asn13196Ser)
c.20672A>G (p.Asn6891Ser)
c.20471A>G (p.Asn6824Ser)
c.20096A>G (p.Asn6699Ser)
c.47291A>G (p.Asn15764Ser)
c.42368A>G (p.Asn14123Ser)
n.1605-1693T>C
c.46388A>G (p.Asn15463Ser)
c.20282A>G (p.Asn6761Ser)
c.20141A>G (p.Asn6714Ser)
c.46184A>G (p.Asn15395Ser)
c.41582A>G (p.Asn13861Ser)
c.41579A>G (p.Asn13860Ser)
c.38621A>G (p.Asn12874Ser)
c.20237A>G (p.Asn6746Ser)
c.41732A>G (p.Asn13911Ser)
c.41729A>G (p.Asn13910Ser)
c.41162A>G (p.Asn13721Ser)
c.38504A>G (p.Asn12835Ser)
c.38423A>G (p.Asn12808Ser)
c.20186A>G (p.Asn6729Ser)
c.10040A>G (p.Asn3347Ser)
2g.178618060T>GCA349618228TTN,TTN-AS1c.39587A>C (p.Asn13196Thr)
c.20672A>C (p.Asn6891Thr)
c.20471A>C (p.Asn6824Thr)
c.20096A>C (p.Asn6699Thr)
c.47291A>C (p.Asn15764Thr)
c.42368A>C (p.Asn14123Thr)
n.1605-1693T>G
c.46388A>C (p.Asn15463Thr)
c.20282A>C (p.Asn6761Thr)
c.20141A>C (p.Asn6714Thr)
c.46184A>C (p.Asn15395Thr)
c.41582A>C (p.Asn13861Thr)
c.41579A>C (p.Asn13860Thr)
c.38621A>C (p.Asn12874Thr)
c.20237A>C (p.Asn6746Thr)
c.41732A>C (p.Asn13911Thr)
c.41729A>C (p.Asn13910Thr)
c.41162A>C (p.Asn13721Thr)
c.38504A>C (p.Asn12835Thr)
c.38423A>C (p.Asn12808Thr)
c.20186A>C (p.Asn6729Thr)
c.10040A>C (p.Asn3347Thr)
2g.178618061delCA2662134611TTN,TTN-AS1c.39587del (p.Asn13196MetfsTer2)
c.20672del (p.Asn6891MetfsTer2)
c.20471del (p.Asn6824MetfsTer2)
c.20096del (p.Asn6699MetfsTer2)
c.47291del (p.Asn15764MetfsTer2)
c.42368del (p.Asn14123MetfsTer2)
n.1605-1692del
c.46388del (p.Asn15463MetfsTer2)
c.20282del (p.Asn6761MetfsTer2)
c.20141del (p.Asn6714MetfsTer2)
c.46184del (p.Asn15395MetfsTer2)
c.41582del (p.Asn13861MetfsTer2)
c.41579del (p.Asn13860MetfsTer2)
c.38621del (p.Asn12874MetfsTer2)
c.20237del (p.Asn6746MetfsTer2)
c.41732del (p.Asn13911MetfsTer2)
c.41729del (p.Asn13910MetfsTer2)
c.41162del (p.Asn13721MetfsTer2)
c.38504del (p.Asn12835MetfsTer2)
c.38423del (p.Asn12808MetfsTer2)
c.20186del (p.Asn6729MetfsTer2)
c.10040del (p.Asn3347MetfsTer2)
 gnomAD v4
2g.178618061T>ACA349618239TTN,TTN-AS1c.39586A>T (p.Asn13196Tyr)
c.20671A>T (p.Asn6891Tyr)
c.20470A>T (p.Asn6824Tyr)
c.20095A>T (p.Asn6699Tyr)
c.47290A>T (p.Asn15764Tyr)
c.42367A>T (p.Asn14123Tyr)
n.1605-1692T>A
c.46387A>T (p.Asn15463Tyr)
c.20281A>T (p.Asn6761Tyr)
c.20140A>T (p.Asn6714Tyr)
c.46183A>T (p.Asn15395Tyr)
c.41581A>T (p.Asn13861Tyr)
c.41578A>T (p.Asn13860Tyr)
c.38620A>T (p.Asn12874Tyr)
c.20236A>T (p.Asn6746Tyr)
c.41731A>T (p.Asn13911Tyr)
c.41728A>T (p.Asn13910Tyr)
c.41161A>T (p.Asn13721Tyr)
c.38503A>T (p.Asn12835Tyr)
c.38422A>T (p.Asn12808Tyr)
c.20185A>T (p.Asn6729Tyr)
c.10039A>T (p.Asn3347Tyr)
2g.178618061T>CCA349618241TTN,TTN-AS1c.39586A>G (p.Asn13196Asp)
c.20671A>G (p.Asn6891Asp)
c.20470A>G (p.Asn6824Asp)
c.20095A>G (p.Asn6699Asp)
c.47290A>G (p.Asn15764Asp)
c.42367A>G (p.Asn14123Asp)
n.1605-1692T>C
c.46387A>G (p.Asn15463Asp)
c.20281A>G (p.Asn6761Asp)
c.20140A>G (p.Asn6714Asp)
c.46183A>G (p.Asn15395Asp)
c.41581A>G (p.Asn13861Asp)
c.41578A>G (p.Asn13860Asp)
c.38620A>G (p.Asn12874Asp)
c.20236A>G (p.Asn6746Asp)
c.41731A>G (p.Asn13911Asp)
c.41728A>G (p.Asn13910Asp)
c.41161A>G (p.Asn13721Asp)
c.38503A>G (p.Asn12835Asp)
c.38422A>G (p.Asn12808Asp)
c.20185A>G (p.Asn6729Asp)
c.10039A>G (p.Asn3347Asp)
2g.178618061T>GCA349618243TTN,TTN-AS1c.39586A>C (p.Asn13196His)
c.20671A>C (p.Asn6891His)
c.20470A>C (p.Asn6824His)
c.20095A>C (p.Asn6699His)
c.47290A>C (p.Asn15764His)
c.42367A>C (p.Asn14123His)
n.1605-1692T>G
c.46387A>C (p.Asn15463His)
c.20281A>C (p.Asn6761His)
c.20140A>C (p.Asn6714His)
c.46183A>C (p.Asn15395His)
c.41581A>C (p.Asn13861His)
c.41578A>C (p.Asn13860His)
c.38620A>C (p.Asn12874His)
c.20236A>C (p.Asn6746His)
c.41731A>C (p.Asn13911His)
c.41728A>C (p.Asn13910His)
c.41161A>C (p.Asn13721His)
c.38503A>C (p.Asn12835His)
c.38422A>C (p.Asn12808His)
c.20185A>C (p.Asn6729His)
c.10039A>C (p.Asn3347His)
2g.178618062C>ACA349618254TTN,TTN-AS1c.39585G>T (p.Leu13195Phe)
c.20670G>T (p.Leu6890Phe)
c.20469G>T (p.Leu6823Phe)
c.20094G>T (p.Leu6698Phe)
c.47289G>T (p.Leu15763Phe)
c.42366G>T (p.Leu14122Phe)
n.1605-1691C>A
c.46386G>T (p.Leu15462Phe)
c.20280G>T (p.Leu6760Phe)
c.20139G>T (p.Leu6713Phe)
c.46182G>T (p.Leu15394Phe)
c.41580G>T (p.Leu13860Phe)
c.41577G>T (p.Leu13859Phe)
c.38619G>T (p.Leu12873Phe)
c.20235G>T (p.Leu6745Phe)
c.41730G>T (p.Leu13910Phe)
c.41727G>T (p.Leu13909Phe)
c.41160G>T (p.Leu13720Phe)
c.38502G>T (p.Leu12834Phe)
c.38421G>T (p.Leu12807Phe)
c.20184G>T (p.Leu6728Phe)
c.10038G>T (p.Leu3346Phe)
 ClinVar dbSNP
2g.178618062C=CA1310550896TTN,TTN-AS1c.39585G= (p.Leu13195=)
c.20670G= (p.Leu6890=)
c.20469G= (p.Leu6823=)
c.20094G= (p.Leu6698=)
c.47289G= (p.Leu15763=)
c.42366G= (p.Leu14122=)
n.1605-1691C=
c.46386G= (p.Leu15462=)
c.20280G= (p.Leu6760=)
c.20139G= (p.Leu6713=)
c.46182G= (p.Leu15394=)
c.41580G= (p.Leu13860=)
c.41577G= (p.Leu13859=)
c.38619G= (p.Leu12873=)
c.20235G= (p.Leu6745=)
c.41730G= (p.Leu13910=)
c.41727G= (p.Leu13909=)
c.41160G= (p.Leu13720=)
c.38502G= (p.Leu12834=)
c.38421G= (p.Leu12807=)
c.20184G= (p.Leu6728=)
c.10038G= (p.Leu3346=)
2g.178618062C>GCA349618260TTN,TTN-AS1c.39585G>C (p.Leu13195Phe)
c.20670G>C (p.Leu6890Phe)
c.20469G>C (p.Leu6823Phe)
c.20094G>C (p.Leu6698Phe)
c.47289G>C (p.Leu15763Phe)
c.42366G>C (p.Leu14122Phe)
n.1605-1691C>G
c.46386G>C (p.Leu15462Phe)
c.20280G>C (p.Leu6760Phe)
c.20139G>C (p.Leu6713Phe)
c.46182G>C (p.Leu15394Phe)
c.41580G>C (p.Leu13860Phe)
c.41577G>C (p.Leu13859Phe)
c.38619G>C (p.Leu12873Phe)
c.20235G>C (p.Leu6745Phe)
c.41730G>C (p.Leu13910Phe)
c.41727G>C (p.Leu13909Phe)
c.41160G>C (p.Leu13720Phe)
c.38502G>C (p.Leu12834Phe)
c.38421G>C (p.Leu12807Phe)
c.20184G>C (p.Leu6728Phe)
c.10038G>C (p.Leu3346Phe)
2g.178618062C>TCA430274506TTN,TTN-AS1c.39585G>A (p.Leu13195=)
c.20670G>A (p.Leu6890=)
c.20469G>A (p.Leu6823=)
c.20094G>A (p.Leu6698=)
c.47289G>A (p.Leu15763=)
c.42366G>A (p.Leu14122=)
n.1605-1691C>T
c.46386G>A (p.Leu15462=)
c.20280G>A (p.Leu6760=)
c.20139G>A (p.Leu6713=)
c.46182G>A (p.Leu15394=)
c.41580G>A (p.Leu13860=)
c.41577G>A (p.Leu13859=)
c.38619G>A (p.Leu12873=)
c.20235G>A (p.Leu6745=)
c.41730G>A (p.Leu13910=)
c.41727G>A (p.Leu13909=)
c.41160G>A (p.Leu13720=)
c.38502G>A (p.Leu12834=)
c.38421G>A (p.Leu12807=)
c.20184G>A (p.Leu6728=)
c.10038G>A (p.Leu3346=)
2g.178618063A>CCA349618263TTN,TTN-AS1c.39584T>G (p.Leu13195Trp)
c.20669T>G (p.Leu6890Trp)
c.20468T>G (p.Leu6823Trp)
c.20093T>G (p.Leu6698Trp)
c.47288T>G (p.Leu15763Trp)
c.42365T>G (p.Leu14122Trp)
n.1605-1690A>C
c.46385T>G (p.Leu15462Trp)
c.20279T>G (p.Leu6760Trp)
c.20138T>G (p.Leu6713Trp)
c.46181T>G (p.Leu15394Trp)
c.41579T>G (p.Leu13860Trp)
c.41576T>G (p.Leu13859Trp)
c.38618T>G (p.Leu12873Trp)
c.20234T>G (p.Leu6745Trp)
c.41729T>G (p.Leu13910Trp)
c.41726T>G (p.Leu13909Trp)
c.41159T>G (p.Leu13720Trp)
c.38501T>G (p.Leu12834Trp)
c.38420T>G (p.Leu12807Trp)
c.20183T>G (p.Leu6728Trp)
c.10037T>G (p.Leu3346Trp)
 dbSNP gnomAD v4
2g.178618063A>GCA349618262TTN,TTN-AS1c.39584T>C (p.Leu13195Ser)
c.20669T>C (p.Leu6890Ser)
c.20468T>C (p.Leu6823Ser)
c.20093T>C (p.Leu6698Ser)
c.47288T>C (p.Leu15763Ser)
c.42365T>C (p.Leu14122Ser)
n.1605-1690A>G
c.46385T>C (p.Leu15462Ser)
c.20279T>C (p.Leu6760Ser)
c.20138T>C (p.Leu6713Ser)
c.46181T>C (p.Leu15394Ser)
c.41579T>C (p.Leu13860Ser)
c.41576T>C (p.Leu13859Ser)
c.38618T>C (p.Leu12873Ser)
c.20234T>C (p.Leu6745Ser)
c.41729T>C (p.Leu13910Ser)
c.41726T>C (p.Leu13909Ser)
c.41159T>C (p.Leu13720Ser)
c.38501T>C (p.Leu12834Ser)
c.38420T>C (p.Leu12807Ser)
c.20183T>C (p.Leu6728Ser)
c.10037T>C (p.Leu3346Ser)
2g.178618063A>TCA349618261TTN,TTN-AS1c.39584T>A (p.Leu13195Ter)
c.20669T>A (p.Leu6890Ter)
c.20468T>A (p.Leu6823Ter)
c.20093T>A (p.Leu6698Ter)
c.47288T>A (p.Leu15763Ter)
c.42365T>A (p.Leu14122Ter)
n.1605-1690A>T
c.46385T>A (p.Leu15462Ter)
c.20279T>A (p.Leu6760Ter)
c.20138T>A (p.Leu6713Ter)
c.46181T>A (p.Leu15394Ter)
c.41579T>A (p.Leu13860Ter)
c.41576T>A (p.Leu13859Ter)
c.38618T>A (p.Leu12873Ter)
c.20234T>A (p.Leu6745Ter)
c.41729T>A (p.Leu13910Ter)
c.41726T>A (p.Leu13909Ter)
c.41159T>A (p.Leu13720Ter)
c.38501T>A (p.Leu12834Ter)
c.38420T>A (p.Leu12807Ter)
c.20183T>A (p.Leu6728Ter)
c.10037T>A (p.Leu3346Ter)
2g.178618064A=CA1310550897TTN,TTN-AS1c.39583T= (p.Leu13195=)
c.20668T= (p.Leu6890=)
c.20467T= (p.Leu6823=)
c.20092T= (p.Leu6698=)
c.47287T= (p.Leu15763=)
c.42364T= (p.Leu14122=)
n.1605-1689A=
c.46384T= (p.Leu15462=)
c.20278T= (p.Leu6760=)
c.20137T= (p.Leu6713=)
c.46180T= (p.Leu15394=)
c.41578T= (p.Leu13860=)
c.41575T= (p.Leu13859=)
c.38617T= (p.Leu12873=)
c.20233T= (p.Leu6745=)
c.41728T= (p.Leu13910=)
c.41725T= (p.Leu13909=)
c.41158T= (p.Leu13720=)
c.38500T= (p.Leu12834=)
c.38419T= (p.Leu12807=)
c.20182T= (p.Leu6728=)
c.10036T= (p.Leu3346=)
2g.178618064A>CCA349618264TTN,TTN-AS1c.39583T>G (p.Leu13195Val)
c.20668T>G (p.Leu6890Val)
c.20467T>G (p.Leu6823Val)
c.20092T>G (p.Leu6698Val)
c.47287T>G (p.Leu15763Val)
c.42364T>G (p.Leu14122Val)
n.1605-1689A>C
c.46384T>G (p.Leu15462Val)
c.20278T>G (p.Leu6760Val)
c.20137T>G (p.Leu6713Val)
c.46180T>G (p.Leu15394Val)
c.41578T>G (p.Leu13860Val)
c.41575T>G (p.Leu13859Val)
c.38617T>G (p.Leu12873Val)
c.20233T>G (p.Leu6745Val)
c.41728T>G (p.Leu13910Val)
c.41725T>G (p.Leu13909Val)
c.41158T>G (p.Leu13720Val)
c.38500T>G (p.Leu12834Val)
c.38419T>G (p.Leu12807Val)
c.20182T>G (p.Leu6728Val)
c.10036T>G (p.Leu3346Val)
 gnomAD v4
2g.178618064A>GCA430274513TTN,TTN-AS1c.39583T>C (p.Leu13195=)
c.20668T>C (p.Leu6890=)
c.20467T>C (p.Leu6823=)
c.20092T>C (p.Leu6698=)
c.47287T>C (p.Leu15763=)
c.42364T>C (p.Leu14122=)
n.1605-1689A>G
c.46384T>C (p.Leu15462=)
c.20278T>C (p.Leu6760=)
c.20137T>C (p.Leu6713=)
c.46180T>C (p.Leu15394=)
c.41578T>C (p.Leu13860=)
c.41575T>C (p.Leu13859=)
c.38617T>C (p.Leu12873=)
c.20233T>C (p.Leu6745=)
c.41728T>C (p.Leu13910=)
c.41725T>C (p.Leu13909=)
c.41158T>C (p.Leu13720=)
c.38500T>C (p.Leu12834=)
c.38419T>C (p.Leu12807=)
c.20182T>C (p.Leu6728=)
c.10036T>C (p.Leu3346=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178618064A>TCA349618266TTN,TTN-AS1c.39583T>A (p.Leu13195Met)
c.20668T>A (p.Leu6890Met)
c.20467T>A (p.Leu6823Met)
c.20092T>A (p.Leu6698Met)
c.47287T>A (p.Leu15763Met)
c.42364T>A (p.Leu14122Met)
n.1605-1689A>T
c.46384T>A (p.Leu15462Met)
c.20278T>A (p.Leu6760Met)
c.20137T>A (p.Leu6713Met)
c.46180T>A (p.Leu15394Met)
c.41578T>A (p.Leu13860Met)
c.41575T>A (p.Leu13859Met)
c.38617T>A (p.Leu12873Met)
c.20233T>A (p.Leu6745Met)
c.41728T>A (p.Leu13910Met)
c.41725T>A (p.Leu13909Met)
c.41158T>A (p.Leu13720Met)
c.38500T>A (p.Leu12834Met)
c.38419T>A (p.Leu12807Met)
c.20182T>A (p.Leu6728Met)
c.10036T>A (p.Leu3346Met)
2g.178618065A>CCA430274515TTN,TTN-AS1c.39582T>G (p.Pro13194=)
c.20667T>G (p.Pro6889=)
c.20466T>G (p.Pro6822=)
c.20091T>G (p.Pro6697=)
c.47286T>G (p.Pro15762=)
c.42363T>G (p.Pro14121=)
n.1605-1688A>C
c.46383T>G (p.Pro15461=)
c.20277T>G (p.Pro6759=)
c.20136T>G (p.Pro6712=)
c.46179T>G (p.Pro15393=)
c.41577T>G (p.Pro13859=)
c.41574T>G (p.Pro13858=)
c.38616T>G (p.Pro12872=)
c.20232T>G (p.Pro6744=)
c.41727T>G (p.Pro13909=)
c.41724T>G (p.Pro13908=)
c.41157T>G (p.Pro13719=)
c.38499T>G (p.Pro12833=)
c.38418T>G (p.Pro12806=)
c.20181T>G (p.Pro6727=)
c.10035T>G (p.Pro3345=)
 gnomAD v4
2g.178618065A>GCA430274519TTN,TTN-AS1c.39582T>C (p.Pro13194=)
c.20667T>C (p.Pro6889=)
c.20466T>C (p.Pro6822=)
c.20091T>C (p.Pro6697=)
c.47286T>C (p.Pro15762=)
c.42363T>C (p.Pro14121=)
n.1605-1688A>G
c.46383T>C (p.Pro15461=)
c.20277T>C (p.Pro6759=)
c.20136T>C (p.Pro6712=)
c.46179T>C (p.Pro15393=)
c.41577T>C (p.Pro13859=)
c.41574T>C (p.Pro13858=)
c.38616T>C (p.Pro12872=)
c.20232T>C (p.Pro6744=)
c.41727T>C (p.Pro13909=)
c.41724T>C (p.Pro13908=)
c.41157T>C (p.Pro13719=)
c.38499T>C (p.Pro12833=)
c.38418T>C (p.Pro12806=)
c.20181T>C (p.Pro6727=)
c.10035T>C (p.Pro3345=)
2g.178618065A>TCA430274516TTN,TTN-AS1c.39582T>A (p.Pro13194=)
c.20667T>A (p.Pro6889=)
c.20466T>A (p.Pro6822=)
c.20091T>A (p.Pro6697=)
c.47286T>A (p.Pro15762=)
c.42363T>A (p.Pro14121=)
n.1605-1688A>T
c.46383T>A (p.Pro15461=)
c.20277T>A (p.Pro6759=)
c.20136T>A (p.Pro6712=)
c.46179T>A (p.Pro15393=)
c.41577T>A (p.Pro13859=)
c.41574T>A (p.Pro13858=)
c.38616T>A (p.Pro12872=)
c.20232T>A (p.Pro6744=)
c.41727T>A (p.Pro13909=)
c.41724T>A (p.Pro13908=)
c.41157T>A (p.Pro13719=)
c.38499T>A (p.Pro12833=)
c.38418T>A (p.Pro12806=)
c.20181T>A (p.Pro6727=)
c.10035T>A (p.Pro3345=)
2g.178618066G>ACA349618268TTN,TTN-AS1c.39581C>T (p.Pro13194Leu)
c.20666C>T (p.Pro6889Leu)
c.20465C>T (p.Pro6822Leu)
c.20090C>T (p.Pro6697Leu)
c.47285C>T (p.Pro15762Leu)
c.42362C>T (p.Pro14121Leu)
n.1605-1687G>A
c.46382C>T (p.Pro15461Leu)
c.20276C>T (p.Pro6759Leu)
c.20135C>T (p.Pro6712Leu)
c.46178C>T (p.Pro15393Leu)
c.41576C>T (p.Pro13859Leu)
c.41573C>T (p.Pro13858Leu)
c.38615C>T (p.Pro12872Leu)
c.20231C>T (p.Pro6744Leu)
c.41726C>T (p.Pro13909Leu)
c.41723C>T (p.Pro13908Leu)
c.41156C>T (p.Pro13719Leu)
c.38498C>T (p.Pro12833Leu)
c.38417C>T (p.Pro12806Leu)
c.20180C>T (p.Pro6727Leu)
c.10034C>T (p.Pro3345Leu)
2g.178618066G>CCA349618271TTN,TTN-AS1c.39581C>G (p.Pro13194Arg)
c.20666C>G (p.Pro6889Arg)
c.20465C>G (p.Pro6822Arg)
c.20090C>G (p.Pro6697Arg)
c.47285C>G (p.Pro15762Arg)
c.42362C>G (p.Pro14121Arg)
n.1605-1687G>C
c.46382C>G (p.Pro15461Arg)
c.20276C>G (p.Pro6759Arg)
c.20135C>G (p.Pro6712Arg)
c.46178C>G (p.Pro15393Arg)
c.41576C>G (p.Pro13859Arg)
c.41573C>G (p.Pro13858Arg)
c.38615C>G (p.Pro12872Arg)
c.20231C>G (p.Pro6744Arg)
c.41726C>G (p.Pro13909Arg)
c.41723C>G (p.Pro13908Arg)
c.41156C>G (p.Pro13719Arg)
c.38498C>G (p.Pro12833Arg)
c.38417C>G (p.Pro12806Arg)
c.20180C>G (p.Pro6727Arg)
c.10034C>G (p.Pro3345Arg)
2g.178618066G>TCA349618274TTN,TTN-AS1c.39581C>A (p.Pro13194His)
c.20666C>A (p.Pro6889His)
c.20465C>A (p.Pro6822His)
c.20090C>A (p.Pro6697His)
c.47285C>A (p.Pro15762His)
c.42362C>A (p.Pro14121His)
n.1605-1687G>T
c.46382C>A (p.Pro15461His)
c.20276C>A (p.Pro6759His)
c.20135C>A (p.Pro6712His)
c.46178C>A (p.Pro15393His)
c.41576C>A (p.Pro13859His)
c.41573C>A (p.Pro13858His)
c.38615C>A (p.Pro12872His)
c.20231C>A (p.Pro6744His)
c.41726C>A (p.Pro13909His)
c.41723C>A (p.Pro13908His)
c.41156C>A (p.Pro13719His)
c.38498C>A (p.Pro12833His)
c.38417C>A (p.Pro12806His)
c.20180C>A (p.Pro6727His)
c.10034C>A (p.Pro3345His)
2g.178618067delCA2580065397TTN,TTN-AS1c.39581del (p.Pro13194LeufsTer2)
c.20666del (p.Pro6889LeufsTer2)
c.20465del (p.Pro6822LeufsTer2)
c.20090del (p.Pro6697LeufsTer2)
c.47285del (p.Pro15762LeufsTer2)
c.42362del (p.Pro14121LeufsTer2)
n.1605-1686del
c.46382del (p.Pro15461LeufsTer2)
c.20276del (p.Pro6759LeufsTer2)
c.20135del (p.Pro6712LeufsTer2)
c.46178del (p.Pro15393LeufsTer2)
c.41576del (p.Pro13859LeufsTer2)
c.41573del (p.Pro13858LeufsTer2)
c.38615del (p.Pro12872LeufsTer2)
c.20231del (p.Pro6744LeufsTer2)
c.41726del (p.Pro13909LeufsTer2)
c.41723del (p.Pro13908LeufsTer2)
c.41156del (p.Pro13719LeufsTer2)
c.38498del (p.Pro12833LeufsTer2)
c.38417del (p.Pro12806LeufsTer2)
c.20180del (p.Pro6727LeufsTer2)
c.10034del (p.Pro3345LeufsTer2)
 ClinVar
2g.178618067G>ACA349618277TTN,TTN-AS1c.39580C>T (p.Pro13194Ser)
c.20665C>T (p.Pro6889Ser)
c.20464C>T (p.Pro6822Ser)
c.20089C>T (p.Pro6697Ser)
c.47284C>T (p.Pro15762Ser)
c.42361C>T (p.Pro14121Ser)
n.1605-1686G>A
c.46381C>T (p.Pro15461Ser)
c.20275C>T (p.Pro6759Ser)
c.20134C>T (p.Pro6712Ser)
c.46177C>T (p.Pro15393Ser)
c.41575C>T (p.Pro13859Ser)
c.41572C>T (p.Pro13858Ser)
c.38614C>T (p.Pro12872Ser)
c.20230C>T (p.Pro6744Ser)
c.41725C>T (p.Pro13909Ser)
c.41722C>T (p.Pro13908Ser)
c.41155C>T (p.Pro13719Ser)
c.38497C>T (p.Pro12833Ser)
c.38416C>T (p.Pro12806Ser)
c.20179C>T (p.Pro6727Ser)
c.10033C>T (p.Pro3345Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178618067G>CCA349618280TTN,TTN-AS1c.39580C>G (p.Pro13194Ala)
c.20665C>G (p.Pro6889Ala)
c.20464C>G (p.Pro6822Ala)
c.20089C>G (p.Pro6697Ala)
c.47284C>G (p.Pro15762Ala)
c.42361C>G (p.Pro14121Ala)
n.1605-1686G>C
c.46381C>G (p.Pro15461Ala)
c.20275C>G (p.Pro6759Ala)
c.20134C>G (p.Pro6712Ala)
c.46177C>G (p.Pro15393Ala)
c.41575C>G (p.Pro13859Ala)
c.41572C>G (p.Pro13858Ala)
c.38614C>G (p.Pro12872Ala)
c.20230C>G (p.Pro6744Ala)
c.41725C>G (p.Pro13909Ala)
c.41722C>G (p.Pro13908Ala)
c.41155C>G (p.Pro13719Ala)
c.38497C>G (p.Pro12833Ala)
c.38416C>G (p.Pro12806Ala)
c.20179C>G (p.Pro6727Ala)
c.10033C>G (p.Pro3345Ala)
 gnomAD v4
2g.178618067G=CA1310550898TTN,TTN-AS1c.39580C= (p.Pro13194=)
c.20665C= (p.Pro6889=)
c.20464C= (p.Pro6822=)
c.20089C= (p.Pro6697=)
c.47284C= (p.Pro15762=)
c.42361C= (p.Pro14121=)
n.1605-1686G=
c.46381C= (p.Pro15461=)
c.20275C= (p.Pro6759=)
c.20134C= (p.Pro6712=)
c.46177C= (p.Pro15393=)
c.41575C= (p.Pro13859=)
c.41572C= (p.Pro13858=)
c.38614C= (p.Pro12872=)
c.20230C= (p.Pro6744=)
c.41725C= (p.Pro13909=)
c.41722C= (p.Pro13908=)
c.41155C= (p.Pro13719=)
c.38497C= (p.Pro12833=)
c.38416C= (p.Pro12806=)
c.20179C= (p.Pro6727=)
c.10033C= (p.Pro3345=)
2g.178618067G>TCA349618290TTN,TTN-AS1c.39580C>A (p.Pro13194Thr)
c.20665C>A (p.Pro6889Thr)
c.20464C>A (p.Pro6822Thr)
c.20089C>A (p.Pro6697Thr)
c.47284C>A (p.Pro15762Thr)
c.42361C>A (p.Pro14121Thr)
n.1605-1686G>T
c.46381C>A (p.Pro15461Thr)
c.20275C>A (p.Pro6759Thr)
c.20134C>A (p.Pro6712Thr)
c.46177C>A (p.Pro15393Thr)
c.41575C>A (p.Pro13859Thr)
c.41572C>A (p.Pro13858Thr)
c.38614C>A (p.Pro12872Thr)
c.20230C>A (p.Pro6744Thr)
c.41725C>A (p.Pro13909Thr)
c.41722C>A (p.Pro13908Thr)
c.41155C>A (p.Pro13719Thr)
c.38497C>A (p.Pro12833Thr)
c.38416C>A (p.Pro12806Thr)
c.20179C>A (p.Pro6727Thr)
c.10033C>A (p.Pro3345Thr)
2g.178618068A>CCA430274523TTN,TTN-AS1c.39579T>G (p.Pro13193=)
c.20664T>G (p.Pro6888=)
c.20463T>G (p.Pro6821=)
c.20088T>G (p.Pro6696=)
c.47283T>G (p.Pro15761=)
c.42360T>G (p.Pro14120=)
n.1605-1685A>C
c.46380T>G (p.Pro15460=)
c.20274T>G (p.Pro6758=)
c.20133T>G (p.Pro6711=)
c.46176T>G (p.Pro15392=)
c.41574T>G (p.Pro13858=)
c.41571T>G (p.Pro13857=)
c.38613T>G (p.Pro12871=)
c.20229T>G (p.Pro6743=)
c.41724T>G (p.Pro13908=)
c.41721T>G (p.Pro13907=)
c.41154T>G (p.Pro13718=)
c.38496T>G (p.Pro12832=)
c.38415T>G (p.Pro12805=)
c.20178T>G (p.Pro6726=)
c.10032T>G (p.Pro3344=)
2g.178618068A>GCA430274524TTN,TTN-AS1c.39579T>C (p.Pro13193=)
c.20664T>C (p.Pro6888=)
c.20463T>C (p.Pro6821=)
c.20088T>C (p.Pro6696=)
c.47283T>C (p.Pro15761=)
c.42360T>C (p.Pro14120=)
n.1605-1685A>G
c.46380T>C (p.Pro15460=)
c.20274T>C (p.Pro6758=)
c.20133T>C (p.Pro6711=)
c.46176T>C (p.Pro15392=)
c.41574T>C (p.Pro13858=)
c.41571T>C (p.Pro13857=)
c.38613T>C (p.Pro12871=)
c.20229T>C (p.Pro6743=)
c.41724T>C (p.Pro13908=)
c.41721T>C (p.Pro13907=)
c.41154T>C (p.Pro13718=)
c.38496T>C (p.Pro12832=)
c.38415T>C (p.Pro12805=)
c.20178T>C (p.Pro6726=)
c.10032T>C (p.Pro3344=)
2g.178618068A>TCA430274525TTN,TTN-AS1c.39579T>A (p.Pro13193=)
c.20664T>A (p.Pro6888=)
c.20463T>A (p.Pro6821=)
c.20088T>A (p.Pro6696=)
c.47283T>A (p.Pro15761=)
c.42360T>A (p.Pro14120=)
n.1605-1685A>T
c.46380T>A (p.Pro15460=)
c.20274T>A (p.Pro6758=)
c.20133T>A (p.Pro6711=)
c.46176T>A (p.Pro15392=)
c.41574T>A (p.Pro13858=)
c.41571T>A (p.Pro13857=)
c.38613T>A (p.Pro12871=)
c.20229T>A (p.Pro6743=)
c.41724T>A (p.Pro13908=)
c.41721T>A (p.Pro13907=)
c.41154T>A (p.Pro13718=)
c.38496T>A (p.Pro12832=)
c.38415T>A (p.Pro12805=)
c.20178T>A (p.Pro6726=)
c.10032T>A (p.Pro3344=)
2g.178618069G>ACA349618293TTN,TTN-AS1c.39578C>T (p.Pro13193Leu)
c.20663C>T (p.Pro6888Leu)
c.20462C>T (p.Pro6821Leu)
c.20087C>T (p.Pro6696Leu)
c.47282C>T (p.Pro15761Leu)
c.42359C>T (p.Pro14120Leu)
n.1605-1684G>A
c.46379C>T (p.Pro15460Leu)
c.20273C>T (p.Pro6758Leu)
c.20132C>T (p.Pro6711Leu)
c.46175C>T (p.Pro15392Leu)
c.41573C>T (p.Pro13858Leu)
c.41570C>T (p.Pro13857Leu)
c.38612C>T (p.Pro12871Leu)
c.20228C>T (p.Pro6743Leu)
c.41723C>T (p.Pro13908Leu)
c.41720C>T (p.Pro13907Leu)
c.41153C>T (p.Pro13718Leu)
c.38495C>T (p.Pro12832Leu)
c.38414C>T (p.Pro12805Leu)
c.20177C>T (p.Pro6726Leu)
c.10031C>T (p.Pro3344Leu)
 gnomAD v4
2g.178618069G>CCA349618299TTN,TTN-AS1c.39578C>G (p.Pro13193Arg)
c.20663C>G (p.Pro6888Arg)
c.20462C>G (p.Pro6821Arg)
c.20087C>G (p.Pro6696Arg)
c.47282C>G (p.Pro15761Arg)
c.42359C>G (p.Pro14120Arg)
n.1605-1684G>C
c.46379C>G (p.Pro15460Arg)
c.20273C>G (p.Pro6758Arg)
c.20132C>G (p.Pro6711Arg)
c.46175C>G (p.Pro15392Arg)
c.41573C>G (p.Pro13858Arg)
c.41570C>G (p.Pro13857Arg)
c.38612C>G (p.Pro12871Arg)
c.20228C>G (p.Pro6743Arg)
c.41723C>G (p.Pro13908Arg)
c.41720C>G (p.Pro13907Arg)
c.41153C>G (p.Pro13718Arg)
c.38495C>G (p.Pro12832Arg)
c.38414C>G (p.Pro12805Arg)
c.20177C>G (p.Pro6726Arg)
c.10031C>G (p.Pro3344Arg)
2g.178618069G>TCA349618313TTN,TTN-AS1c.39578C>A (p.Pro13193His)
c.20663C>A (p.Pro6888His)
c.20462C>A (p.Pro6821His)
c.20087C>A (p.Pro6696His)
c.47282C>A (p.Pro15761His)
c.42359C>A (p.Pro14120His)
n.1605-1684G>T
c.46379C>A (p.Pro15460His)
c.20273C>A (p.Pro6758His)
c.20132C>A (p.Pro6711His)
c.46175C>A (p.Pro15392His)
c.41573C>A (p.Pro13858His)
c.41570C>A (p.Pro13857His)
c.38612C>A (p.Pro12871His)
c.20228C>A (p.Pro6743His)
c.41723C>A (p.Pro13908His)
c.41720C>A (p.Pro13907His)
c.41153C>A (p.Pro13718His)
c.38495C>A (p.Pro12832His)
c.38414C>A (p.Pro12805His)
c.20177C>A (p.Pro6726His)
c.10031C>A (p.Pro3344His)
2g.178618070G>ACA1995072TTN,TTN-AS1c.39577C>T (p.Pro13193Ser)
c.20662C>T (p.Pro6888Ser)
c.20461C>T (p.Pro6821Ser)
c.20086C>T (p.Pro6696Ser)
c.47281C>T (p.Pro15761Ser)
c.42358C>T (p.Pro14120Ser)
n.1605-1683G>A
c.46378C>T (p.Pro15460Ser)
c.20272C>T (p.Pro6758Ser)
c.20131C>T (p.Pro6711Ser)
c.46174C>T (p.Pro15392Ser)
c.41572C>T (p.Pro13858Ser)
c.41569C>T (p.Pro13857Ser)
c.38611C>T (p.Pro12871Ser)
c.20227C>T (p.Pro6743Ser)
c.41722C>T (p.Pro13908Ser)
c.41719C>T (p.Pro13907Ser)
c.41152C>T (p.Pro13718Ser)
c.38494C>T (p.Pro12832Ser)
c.38413C>T (p.Pro12805Ser)
c.20176C>T (p.Pro6726Ser)
c.10030C>T (p.Pro3344Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618070G>CCA349618327TTN,TTN-AS1c.39577C>G (p.Pro13193Ala)
c.20662C>G (p.Pro6888Ala)
c.20461C>G (p.Pro6821Ala)
c.20086C>G (p.Pro6696Ala)
c.47281C>G (p.Pro15761Ala)
c.42358C>G (p.Pro14120Ala)
n.1605-1683G>C
c.46378C>G (p.Pro15460Ala)
c.20272C>G (p.Pro6758Ala)
c.20131C>G (p.Pro6711Ala)
c.46174C>G (p.Pro15392Ala)
c.41572C>G (p.Pro13858Ala)
c.41569C>G (p.Pro13857Ala)
c.38611C>G (p.Pro12871Ala)
c.20227C>G (p.Pro6743Ala)
c.41722C>G (p.Pro13908Ala)
c.41719C>G (p.Pro13907Ala)
c.41152C>G (p.Pro13718Ala)
c.38494C>G (p.Pro12832Ala)
c.38413C>G (p.Pro12805Ala)
c.20176C>G (p.Pro6726Ala)
c.10030C>G (p.Pro3344Ala)
2g.178618070G=CA1310550899TTN,TTN-AS1c.39577C= (p.Pro13193=)
c.20662C= (p.Pro6888=)
c.20461C= (p.Pro6821=)
c.20086C= (p.Pro6696=)
c.47281C= (p.Pro15761=)
c.42358C= (p.Pro14120=)
n.1605-1683G=
c.46378C= (p.Pro15460=)
c.20272C= (p.Pro6758=)
c.20131C= (p.Pro6711=)
c.46174C= (p.Pro15392=)
c.41572C= (p.Pro13858=)
c.41569C= (p.Pro13857=)
c.38611C= (p.Pro12871=)
c.20227C= (p.Pro6743=)
c.41722C= (p.Pro13908=)
c.41719C= (p.Pro13907=)
c.41152C= (p.Pro13718=)
c.38494C= (p.Pro12832=)
c.38413C= (p.Pro12805=)
c.20176C= (p.Pro6726=)
c.10030C= (p.Pro3344=)
2g.178618070G>TCA349618326TTN,TTN-AS1c.39577C>A (p.Pro13193Thr)
c.20662C>A (p.Pro6888Thr)
c.20461C>A (p.Pro6821Thr)
c.20086C>A (p.Pro6696Thr)
c.47281C>A (p.Pro15761Thr)
c.42358C>A (p.Pro14120Thr)
n.1605-1683G>T
c.46378C>A (p.Pro15460Thr)
c.20272C>A (p.Pro6758Thr)
c.20131C>A (p.Pro6711Thr)
c.46174C>A (p.Pro15392Thr)
c.41572C>A (p.Pro13858Thr)
c.41569C>A (p.Pro13857Thr)
c.38611C>A (p.Pro12871Thr)
c.20227C>A (p.Pro6743Thr)
c.41722C>A (p.Pro13908Thr)
c.41719C>A (p.Pro13907Thr)
c.41152C>A (p.Pro13718Thr)
c.38494C>A (p.Pro12832Thr)
c.38413C>A (p.Pro12805Thr)
c.20176C>A (p.Pro6726Thr)
c.10030C>A (p.Pro3344Thr)
2g.178618071G>ACA430274531TTN,TTN-AS1c.39576C>T (p.Gly13192=)
c.20661C>T (p.Gly6887=)
c.20460C>T (p.Gly6820=)
c.20085C>T (p.Gly6695=)
c.47280C>T (p.Gly15760=)
c.42357C>T (p.Gly14119=)
n.1605-1682G>A
c.46377C>T (p.Gly15459=)
c.20271C>T (p.Gly6757=)
c.20130C>T (p.Gly6710=)
c.46173C>T (p.Gly15391=)
c.41571C>T (p.Gly13857=)
c.41568C>T (p.Gly13856=)
c.38610C>T (p.Gly12870=)
c.20226C>T (p.Gly6742=)
c.41721C>T (p.Gly13907=)
c.41718C>T (p.Gly13906=)
c.41151C>T (p.Gly13717=)
c.38493C>T (p.Gly12831=)
c.38412C>T (p.Gly12804=)
c.20175C>T (p.Gly6725=)
c.10029C>T (p.Gly3343=)
2g.178618071G>CCA430274532TTN,TTN-AS1c.39576C>G (p.Gly13192=)
c.20661C>G (p.Gly6887=)
c.20460C>G (p.Gly6820=)
c.20085C>G (p.Gly6695=)
c.47280C>G (p.Gly15760=)
c.42357C>G (p.Gly14119=)
n.1605-1682G>C
c.46377C>G (p.Gly15459=)
c.20271C>G (p.Gly6757=)
c.20130C>G (p.Gly6710=)
c.46173C>G (p.Gly15391=)
c.41571C>G (p.Gly13857=)
c.41568C>G (p.Gly13856=)
c.38610C>G (p.Gly12870=)
c.20226C>G (p.Gly6742=)
c.41721C>G (p.Gly13907=)
c.41718C>G (p.Gly13906=)
c.41151C>G (p.Gly13717=)
c.38493C>G (p.Gly12831=)
c.38412C>G (p.Gly12804=)
c.20175C>G (p.Gly6725=)
c.10029C>G (p.Gly3343=)
2g.178618071G=CA1310550900TTN,TTN-AS1c.39576C= (p.Gly13192=)
c.20661C= (p.Gly6887=)
c.20460C= (p.Gly6820=)
c.20085C= (p.Gly6695=)
c.47280C= (p.Gly15760=)
c.42357C= (p.Gly14119=)
n.1605-1682G=
c.46377C= (p.Gly15459=)
c.20271C= (p.Gly6757=)
c.20130C= (p.Gly6710=)
c.46173C= (p.Gly15391=)
c.41571C= (p.Gly13857=)
c.41568C= (p.Gly13856=)
c.38610C= (p.Gly12870=)
c.20226C= (p.Gly6742=)
c.41721C= (p.Gly13907=)
c.41718C= (p.Gly13906=)
c.41151C= (p.Gly13717=)
c.38493C= (p.Gly12831=)
c.38412C= (p.Gly12804=)
c.20175C= (p.Gly6725=)
c.10029C= (p.Gly3343=)
2g.178618071G>TCA430274533TTN,TTN-AS1c.39576C>A (p.Gly13192=)
c.20661C>A (p.Gly6887=)
c.20460C>A (p.Gly6820=)
c.20085C>A (p.Gly6695=)
c.47280C>A (p.Gly15760=)
c.42357C>A (p.Gly14119=)
n.1605-1682G>T
c.46377C>A (p.Gly15459=)
c.20271C>A (p.Gly6757=)
c.20130C>A (p.Gly6710=)
c.46173C>A (p.Gly15391=)
c.41571C>A (p.Gly13857=)
c.41568C>A (p.Gly13856=)
c.38610C>A (p.Gly12870=)
c.20226C>A (p.Gly6742=)
c.41721C>A (p.Gly13907=)
c.41718C>A (p.Gly13906=)
c.41151C>A (p.Gly13717=)
c.38493C>A (p.Gly12831=)
c.38412C>A (p.Gly12804=)
c.20175C>A (p.Gly6725=)
c.10029C>A (p.Gly3343=)
 dbSNP
2g.178618072C>ACA349618329TTN,TTN-AS1c.39575G>T (p.Gly13192Val)
c.20660G>T (p.Gly6887Val)
c.20459G>T (p.Gly6820Val)
c.20084G>T (p.Gly6695Val)
c.47279G>T (p.Gly15760Val)
c.42356G>T (p.Gly14119Val)
n.1605-1681C>A
c.46376G>T (p.Gly15459Val)
c.20270G>T (p.Gly6757Val)
c.20129G>T (p.Gly6710Val)
c.46172G>T (p.Gly15391Val)
c.41570G>T (p.Gly13857Val)
c.41567G>T (p.Gly13856Val)
c.38609G>T (p.Gly12870Val)
c.20225G>T (p.Gly6742Val)
c.41720G>T (p.Gly13907Val)
c.41717G>T (p.Gly13906Val)
c.41150G>T (p.Gly13717Val)
c.38492G>T (p.Gly12831Val)
c.38411G>T (p.Gly12804Val)
c.20174G>T (p.Gly6725Val)
c.10028G>T (p.Gly3343Val)
2g.178618072C=CA1310550901TTN,TTN-AS1c.39575G= (p.Gly13192=)
c.20660G= (p.Gly6887=)
c.20459G= (p.Gly6820=)
c.20084G= (p.Gly6695=)
c.47279G= (p.Gly15760=)
c.42356G= (p.Gly14119=)
n.1605-1681C=
c.46376G= (p.Gly15459=)
c.20270G= (p.Gly6757=)
c.20129G= (p.Gly6710=)
c.46172G= (p.Gly15391=)
c.41570G= (p.Gly13857=)
c.41567G= (p.Gly13856=)
c.38609G= (p.Gly12870=)
c.20225G= (p.Gly6742=)
c.41720G= (p.Gly13907=)
c.41717G= (p.Gly13906=)
c.41150G= (p.Gly13717=)
c.38492G= (p.Gly12831=)
c.38411G= (p.Gly12804=)
c.20174G= (p.Gly6725=)
c.10028G= (p.Gly3343=)
2g.178618072C>GCA349618334TTN,TTN-AS1c.39575G>C (p.Gly13192Ala)
c.20660G>C (p.Gly6887Ala)
c.20459G>C (p.Gly6820Ala)
c.20084G>C (p.Gly6695Ala)
c.47279G>C (p.Gly15760Ala)
c.42356G>C (p.Gly14119Ala)
n.1605-1681C>G
c.46376G>C (p.Gly15459Ala)
c.20270G>C (p.Gly6757Ala)
c.20129G>C (p.Gly6710Ala)
c.46172G>C (p.Gly15391Ala)
c.41570G>C (p.Gly13857Ala)
c.41567G>C (p.Gly13856Ala)
c.38609G>C (p.Gly12870Ala)
c.20225G>C (p.Gly6742Ala)
c.41720G>C (p.Gly13907Ala)
c.41717G>C (p.Gly13906Ala)
c.41150G>C (p.Gly13717Ala)
c.38492G>C (p.Gly12831Ala)
c.38411G>C (p.Gly12804Ala)
c.20174G>C (p.Gly6725Ala)
c.10028G>C (p.Gly3343Ala)
 gnomAD v4
2g.178618072C>TCA1995073TTN,TTN-AS1c.39575G>A (p.Gly13192Asp)
c.20660G>A (p.Gly6887Asp)
c.20459G>A (p.Gly6820Asp)
c.20084G>A (p.Gly6695Asp)
c.47279G>A (p.Gly15760Asp)
c.42356G>A (p.Gly14119Asp)
n.1605-1681C>T
c.46376G>A (p.Gly15459Asp)
c.20270G>A (p.Gly6757Asp)
c.20129G>A (p.Gly6710Asp)
c.46172G>A (p.Gly15391Asp)
c.41570G>A (p.Gly13857Asp)
c.41567G>A (p.Gly13856Asp)
c.38609G>A (p.Gly12870Asp)
c.20225G>A (p.Gly6742Asp)
c.41720G>A (p.Gly13907Asp)
c.41717G>A (p.Gly13906Asp)
c.41150G>A (p.Gly13717Asp)
c.38492G>A (p.Gly12831Asp)
c.38411G>A (p.Gly12804Asp)
c.20174G>A (p.Gly6725Asp)
c.10028G>A (p.Gly3343Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618073C>ACA349618341TTN,TTN-AS1c.39574G>T (p.Gly13192Cys)
c.20659G>T (p.Gly6887Cys)
c.20458G>T (p.Gly6820Cys)
c.20083G>T (p.Gly6695Cys)
c.47278G>T (p.Gly15760Cys)
c.42355G>T (p.Gly14119Cys)
n.1605-1680C>A
c.46375G>T (p.Gly15459Cys)
c.20269G>T (p.Gly6757Cys)
c.20128G>T (p.Gly6710Cys)
c.46171G>T (p.Gly15391Cys)
c.41569G>T (p.Gly13857Cys)
c.41566G>T (p.Gly13856Cys)
c.38608G>T (p.Gly12870Cys)
c.20224G>T (p.Gly6742Cys)
c.41719G>T (p.Gly13907Cys)
c.41716G>T (p.Gly13906Cys)
c.41149G>T (p.Gly13717Cys)
c.38491G>T (p.Gly12831Cys)
c.38410G>T (p.Gly12804Cys)
c.20173G>T (p.Gly6725Cys)
c.10027G>T (p.Gly3343Cys)
2g.178618073C=CA1310550902TTN,TTN-AS1c.39574G= (p.Gly13192=)
c.20659G= (p.Gly6887=)
c.20458G= (p.Gly6820=)
c.20083G= (p.Gly6695=)
c.47278G= (p.Gly15760=)
c.42355G= (p.Gly14119=)
n.1605-1680C=
c.46375G= (p.Gly15459=)
c.20269G= (p.Gly6757=)
c.20128G= (p.Gly6710=)
c.46171G= (p.Gly15391=)
c.41569G= (p.Gly13857=)
c.41566G= (p.Gly13856=)
c.38608G= (p.Gly12870=)
c.20224G= (p.Gly6742=)
c.41719G= (p.Gly13907=)
c.41716G= (p.Gly13906=)
c.41149G= (p.Gly13717=)
c.38491G= (p.Gly12831=)
c.38410G= (p.Gly12804=)
c.20173G= (p.Gly6725=)
c.10027G= (p.Gly3343=)
2g.178618073C>GCA349618344TTN,TTN-AS1c.39574G>C (p.Gly13192Arg)
c.20659G>C (p.Gly6887Arg)
c.20458G>C (p.Gly6820Arg)
c.20083G>C (p.Gly6695Arg)
c.47278G>C (p.Gly15760Arg)
c.42355G>C (p.Gly14119Arg)
n.1605-1680C>G
c.46375G>C (p.Gly15459Arg)
c.20269G>C (p.Gly6757Arg)
c.20128G>C (p.Gly6710Arg)
c.46171G>C (p.Gly15391Arg)
c.41569G>C (p.Gly13857Arg)
c.41566G>C (p.Gly13856Arg)
c.38608G>C (p.Gly12870Arg)
c.20224G>C (p.Gly6742Arg)
c.41719G>C (p.Gly13907Arg)
c.41716G>C (p.Gly13906Arg)
c.41149G>C (p.Gly13717Arg)
c.38491G>C (p.Gly12831Arg)
c.38410G>C (p.Gly12804Arg)
c.20173G>C (p.Gly6725Arg)
c.10027G>C (p.Gly3343Arg)
 gnomAD v4
2g.178618073C>TCA1995074TTN,TTN-AS1c.39574G>A (p.Gly13192Ser)
c.20659G>A (p.Gly6887Ser)
c.20458G>A (p.Gly6820Ser)
c.20083G>A (p.Gly6695Ser)
c.47278G>A (p.Gly15760Ser)
c.42355G>A (p.Gly14119Ser)
n.1605-1680C>T
c.46375G>A (p.Gly15459Ser)
c.20269G>A (p.Gly6757Ser)
c.20128G>A (p.Gly6710Ser)
c.46171G>A (p.Gly15391Ser)
c.41569G>A (p.Gly13857Ser)
c.41566G>A (p.Gly13856Ser)
c.38608G>A (p.Gly12870Ser)
c.20224G>A (p.Gly6742Ser)
c.41719G>A (p.Gly13907Ser)
c.41716G>A (p.Gly13906Ser)
c.41149G>A (p.Gly13717Ser)
c.38491G>A (p.Gly12831Ser)
c.38410G>A (p.Gly12804Ser)
c.20173G>A (p.Gly6725Ser)
c.10027G>A (p.Gly3343Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618074T>ACA430274539TTN,TTN-AS1c.39573A>T (p.Pro13191=)
c.20658A>T (p.Pro6886=)
c.20457A>T (p.Pro6819=)
c.20082A>T (p.Pro6694=)
c.47277A>T (p.Pro15759=)
c.42354A>T (p.Pro14118=)
n.1605-1679T>A
c.46374A>T (p.Pro15458=)
c.20268A>T (p.Pro6756=)
c.20127A>T (p.Pro6709=)
c.46170A>T (p.Pro15390=)
c.41568A>T (p.Pro13856=)
c.41565A>T (p.Pro13855=)
c.38607A>T (p.Pro12869=)
c.20223A>T (p.Pro6741=)
c.41718A>T (p.Pro13906=)
c.41715A>T (p.Pro13905=)
c.41148A>T (p.Pro13716=)
c.38490A>T (p.Pro12830=)
c.38409A>T (p.Pro12803=)
c.20172A>T (p.Pro6724=)
c.10026A>T (p.Pro3342=)
2g.178618074T>CCA430274541TTN,TTN-AS1c.39573A>G (p.Pro13191=)
c.20658A>G (p.Pro6886=)
c.20457A>G (p.Pro6819=)
c.20082A>G (p.Pro6694=)
c.47277A>G (p.Pro15759=)
c.42354A>G (p.Pro14118=)
n.1605-1679T>C
c.46374A>G (p.Pro15458=)
c.20268A>G (p.Pro6756=)
c.20127A>G (p.Pro6709=)
c.46170A>G (p.Pro15390=)
c.41568A>G (p.Pro13856=)
c.41565A>G (p.Pro13855=)
c.38607A>G (p.Pro12869=)
c.20223A>G (p.Pro6741=)
c.41718A>G (p.Pro13906=)
c.41715A>G (p.Pro13905=)
c.41148A>G (p.Pro13716=)
c.38490A>G (p.Pro12830=)
c.38409A>G (p.Pro12803=)
c.20172A>G (p.Pro6724=)
c.10026A>G (p.Pro3342=)
2g.178618074T>GCA430274543TTN,TTN-AS1c.39573A>C (p.Pro13191=)
c.20658A>C (p.Pro6886=)
c.20457A>C (p.Pro6819=)
c.20082A>C (p.Pro6694=)
c.47277A>C (p.Pro15759=)
c.42354A>C (p.Pro14118=)
n.1605-1679T>G
c.46374A>C (p.Pro15458=)
c.20268A>C (p.Pro6756=)
c.20127A>C (p.Pro6709=)
c.46170A>C (p.Pro15390=)
c.41568A>C (p.Pro13856=)
c.41565A>C (p.Pro13855=)
c.38607A>C (p.Pro12869=)
c.20223A>C (p.Pro6741=)
c.41718A>C (p.Pro13906=)
c.41715A>C (p.Pro13905=)
c.41148A>C (p.Pro13716=)
c.38490A>C (p.Pro12830=)
c.38409A>C (p.Pro12803=)
c.20172A>C (p.Pro6724=)
c.10026A>C (p.Pro3342=)
2g.178618075G>ACA349618359TTN,TTN-AS1c.39572C>T (p.Pro13191Leu)
c.20657C>T (p.Pro6886Leu)
c.20456C>T (p.Pro6819Leu)
c.20081C>T (p.Pro6694Leu)
c.47276C>T (p.Pro15759Leu)
c.42353C>T (p.Pro14118Leu)
n.1605-1678G>A
c.46373C>T (p.Pro15458Leu)
c.20267C>T (p.Pro6756Leu)
c.20126C>T (p.Pro6709Leu)
c.46169C>T (p.Pro15390Leu)
c.41567C>T (p.Pro13856Leu)
c.41564C>T (p.Pro13855Leu)
c.38606C>T (p.Pro12869Leu)
c.20222C>T (p.Pro6741Leu)
c.41717C>T (p.Pro13906Leu)
c.41714C>T (p.Pro13905Leu)
c.41147C>T (p.Pro13716Leu)
c.38489C>T (p.Pro12830Leu)
c.38408C>T (p.Pro12803Leu)
c.20171C>T (p.Pro6724Leu)
c.10025C>T (p.Pro3342Leu)
2g.178618075G>CCA349618360TTN,TTN-AS1c.39572C>G (p.Pro13191Arg)
c.20657C>G (p.Pro6886Arg)
c.20456C>G (p.Pro6819Arg)
c.20081C>G (p.Pro6694Arg)
c.47276C>G (p.Pro15759Arg)
c.42353C>G (p.Pro14118Arg)
n.1605-1678G>C
c.46373C>G (p.Pro15458Arg)
c.20267C>G (p.Pro6756Arg)
c.20126C>G (p.Pro6709Arg)
c.46169C>G (p.Pro15390Arg)
c.41567C>G (p.Pro13856Arg)
c.41564C>G (p.Pro13855Arg)
c.38606C>G (p.Pro12869Arg)
c.20222C>G (p.Pro6741Arg)
c.41717C>G (p.Pro13906Arg)
c.41714C>G (p.Pro13905Arg)
c.41147C>G (p.Pro13716Arg)
c.38489C>G (p.Pro12830Arg)
c.38408C>G (p.Pro12803Arg)
c.20171C>G (p.Pro6724Arg)
c.10025C>G (p.Pro3342Arg)
2g.178618075G>TCA349618364TTN,TTN-AS1c.39572C>A (p.Pro13191Gln)
c.20657C>A (p.Pro6886Gln)
c.20456C>A (p.Pro6819Gln)
c.20081C>A (p.Pro6694Gln)
c.47276C>A (p.Pro15759Gln)
c.42353C>A (p.Pro14118Gln)
n.1605-1678G>T
c.46373C>A (p.Pro15458Gln)
c.20267C>A (p.Pro6756Gln)
c.20126C>A (p.Pro6709Gln)
c.46169C>A (p.Pro15390Gln)
c.41567C>A (p.Pro13856Gln)
c.41564C>A (p.Pro13855Gln)
c.38606C>A (p.Pro12869Gln)
c.20222C>A (p.Pro6741Gln)
c.41717C>A (p.Pro13906Gln)
c.41714C>A (p.Pro13905Gln)
c.41147C>A (p.Pro13716Gln)
c.38489C>A (p.Pro12830Gln)
c.38408C>A (p.Pro12803Gln)
c.20171C>A (p.Pro6724Gln)
c.10025C>A (p.Pro3342Gln)
2g.178618076G>ACA349618367TTN,TTN-AS1c.39571C>T (p.Pro13191Ser)
c.20656C>T (p.Pro6886Ser)
c.20455C>T (p.Pro6819Ser)
c.20080C>T (p.Pro6694Ser)
c.47275C>T (p.Pro15759Ser)
c.42352C>T (p.Pro14118Ser)
n.1605-1677G>A
c.46372C>T (p.Pro15458Ser)
c.20266C>T (p.Pro6756Ser)
c.20125C>T (p.Pro6709Ser)
c.46168C>T (p.Pro15390Ser)
c.41566C>T (p.Pro13856Ser)
c.41563C>T (p.Pro13855Ser)
c.38605C>T (p.Pro12869Ser)
c.20221C>T (p.Pro6741Ser)
c.41716C>T (p.Pro13906Ser)
c.41713C>T (p.Pro13905Ser)
c.41146C>T (p.Pro13716Ser)
c.38488C>T (p.Pro12830Ser)
c.38407C>T (p.Pro12803Ser)
c.20170C>T (p.Pro6724Ser)
c.10024C>T (p.Pro3342Ser)
2g.178618076G>CCA349618369TTN,TTN-AS1c.39571C>G (p.Pro13191Ala)
c.20656C>G (p.Pro6886Ala)
c.20455C>G (p.Pro6819Ala)
c.20080C>G (p.Pro6694Ala)
c.47275C>G (p.Pro15759Ala)
c.42352C>G (p.Pro14118Ala)
n.1605-1677G>C
c.46372C>G (p.Pro15458Ala)
c.20266C>G (p.Pro6756Ala)
c.20125C>G (p.Pro6709Ala)
c.46168C>G (p.Pro15390Ala)
c.41566C>G (p.Pro13856Ala)
c.41563C>G (p.Pro13855Ala)
c.38605C>G (p.Pro12869Ala)
c.20221C>G (p.Pro6741Ala)
c.41716C>G (p.Pro13906Ala)
c.41713C>G (p.Pro13905Ala)
c.41146C>G (p.Pro13716Ala)
c.38488C>G (p.Pro12830Ala)
c.38407C>G (p.Pro12803Ala)
c.20170C>G (p.Pro6724Ala)
c.10024C>G (p.Pro3342Ala)
2g.178618076G>TCA349618373TTN,TTN-AS1c.39571C>A (p.Pro13191Thr)
c.20656C>A (p.Pro6886Thr)
c.20455C>A (p.Pro6819Thr)
c.20080C>A (p.Pro6694Thr)
c.47275C>A (p.Pro15759Thr)
c.42352C>A (p.Pro14118Thr)
n.1605-1677G>T
c.46372C>A (p.Pro15458Thr)
c.20266C>A (p.Pro6756Thr)
c.20125C>A (p.Pro6709Thr)
c.46168C>A (p.Pro15390Thr)
c.41566C>A (p.Pro13856Thr)
c.41563C>A (p.Pro13855Thr)
c.38605C>A (p.Pro12869Thr)
c.20221C>A (p.Pro6741Thr)
c.41716C>A (p.Pro13906Thr)
c.41713C>A (p.Pro13905Thr)
c.41146C>A (p.Pro13716Thr)
c.38488C>A (p.Pro12830Thr)
c.38407C>A (p.Pro12803Thr)
c.20170C>A (p.Pro6724Thr)
c.10024C>A (p.Pro3342Thr)
2g.178618077A>CCA430274547TTN,TTN-AS1c.39570T>G (p.Val13190=)
c.20655T>G (p.Val6885=)
c.20454T>G (p.Val6818=)
c.20079T>G (p.Val6693=)
c.47274T>G (p.Val15758=)
c.42351T>G (p.Val14117=)
n.1605-1676A>C
c.46371T>G (p.Val15457=)
c.20265T>G (p.Val6755=)
c.20124T>G (p.Val6708=)
c.46167T>G (p.Val15389=)
c.41565T>G (p.Val13855=)
c.41562T>G (p.Val13854=)
c.38604T>G (p.Val12868=)
c.20220T>G (p.Val6740=)
c.41715T>G (p.Val13905=)
c.41712T>G (p.Val13904=)
c.41145T>G (p.Val13715=)
c.38487T>G (p.Val12829=)
c.38406T>G (p.Val12802=)
c.20169T>G (p.Val6723=)
c.10023T>G (p.Val3341=)
2g.178618077A>GCA430274548TTN,TTN-AS1c.39570T>C (p.Val13190=)
c.20655T>C (p.Val6885=)
c.20454T>C (p.Val6818=)
c.20079T>C (p.Val6693=)
c.47274T>C (p.Val15758=)
c.42351T>C (p.Val14117=)
n.1605-1676A>G
c.46371T>C (p.Val15457=)
c.20265T>C (p.Val6755=)
c.20124T>C (p.Val6708=)
c.46167T>C (p.Val15389=)
c.41565T>C (p.Val13855=)
c.41562T>C (p.Val13854=)
c.38604T>C (p.Val12868=)
c.20220T>C (p.Val6740=)
c.41715T>C (p.Val13905=)
c.41712T>C (p.Val13904=)
c.41145T>C (p.Val13715=)
c.38487T>C (p.Val12829=)
c.38406T>C (p.Val12802=)
c.20169T>C (p.Val6723=)
c.10023T>C (p.Val3341=)
2g.178618077A>TCA430274549TTN,TTN-AS1c.39570T>A (p.Val13190=)
c.20655T>A (p.Val6885=)
c.20454T>A (p.Val6818=)
c.20079T>A (p.Val6693=)
c.47274T>A (p.Val15758=)
c.42351T>A (p.Val14117=)
n.1605-1676A>T
c.46371T>A (p.Val15457=)
c.20265T>A (p.Val6755=)
c.20124T>A (p.Val6708=)
c.46167T>A (p.Val15389=)
c.41565T>A (p.Val13855=)
c.41562T>A (p.Val13854=)
c.38604T>A (p.Val12868=)
c.20220T>A (p.Val6740=)
c.41715T>A (p.Val13905=)
c.41712T>A (p.Val13904=)
c.41145T>A (p.Val13715=)
c.38487T>A (p.Val12829=)
c.38406T>A (p.Val12802=)
c.20169T>A (p.Val6723=)
c.10023T>A (p.Val3341=)
2g.178618078A=CA1310550903TTN,TTN-AS1c.39569T= (p.Val13190=)
c.20654T= (p.Val6885=)
c.20453T= (p.Val6818=)
c.20078T= (p.Val6693=)
c.47273T= (p.Val15758=)
c.42350T= (p.Val14117=)
n.1605-1675A=
c.46370T= (p.Val15457=)
c.20264T= (p.Val6755=)
c.20123T= (p.Val6708=)
c.46166T= (p.Val15389=)
c.41564T= (p.Val13855=)
c.41561T= (p.Val13854=)
c.38603T= (p.Val12868=)
c.20219T= (p.Val6740=)
c.41714T= (p.Val13905=)
c.41711T= (p.Val13904=)
c.41144T= (p.Val13715=)
c.38486T= (p.Val12829=)
c.38405T= (p.Val12802=)
c.20168T= (p.Val6723=)
c.10022T= (p.Val3341=)
2g.178618078A>CCA60990553TTN,TTN-AS1c.39569T>G (p.Val13190Gly)
c.20654T>G (p.Val6885Gly)
c.20453T>G (p.Val6818Gly)
c.20078T>G (p.Val6693Gly)
c.47273T>G (p.Val15758Gly)
c.42350T>G (p.Val14117Gly)
n.1605-1675A>C
c.46370T>G (p.Val15457Gly)
c.20264T>G (p.Val6755Gly)
c.20123T>G (p.Val6708Gly)
c.46166T>G (p.Val15389Gly)
c.41564T>G (p.Val13855Gly)
c.41561T>G (p.Val13854Gly)
c.38603T>G (p.Val12868Gly)
c.20219T>G (p.Val6740Gly)
c.41714T>G (p.Val13905Gly)
c.41711T>G (p.Val13904Gly)
c.41144T>G (p.Val13715Gly)
c.38486T>G (p.Val12829Gly)
c.38405T>G (p.Val12802Gly)
c.20168T>G (p.Val6723Gly)
c.10022T>G (p.Val3341Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178618078A>GCA349618378TTN,TTN-AS1c.39569T>C (p.Val13190Ala)
c.20654T>C (p.Val6885Ala)
c.20453T>C (p.Val6818Ala)
c.20078T>C (p.Val6693Ala)
c.47273T>C (p.Val15758Ala)
c.42350T>C (p.Val14117Ala)
n.1605-1675A>G
c.46370T>C (p.Val15457Ala)
c.20264T>C (p.Val6755Ala)
c.20123T>C (p.Val6708Ala)
c.46166T>C (p.Val15389Ala)
c.41564T>C (p.Val13855Ala)
c.41561T>C (p.Val13854Ala)
c.38603T>C (p.Val12868Ala)
c.20219T>C (p.Val6740Ala)
c.41714T>C (p.Val13905Ala)
c.41711T>C (p.Val13904Ala)
c.41144T>C (p.Val13715Ala)
c.38486T>C (p.Val12829Ala)
c.38405T>C (p.Val12802Ala)
c.20168T>C (p.Val6723Ala)
c.10022T>C (p.Val3341Ala)
2g.178618078A>TCA349618381TTN,TTN-AS1c.39569T>A (p.Val13190Asp)
c.20654T>A (p.Val6885Asp)
c.20453T>A (p.Val6818Asp)
c.20078T>A (p.Val6693Asp)
c.47273T>A (p.Val15758Asp)
c.42350T>A (p.Val14117Asp)
n.1605-1675A>T
c.46370T>A (p.Val15457Asp)
c.20264T>A (p.Val6755Asp)
c.20123T>A (p.Val6708Asp)
c.46166T>A (p.Val15389Asp)
c.41564T>A (p.Val13855Asp)
c.41561T>A (p.Val13854Asp)
c.38603T>A (p.Val12868Asp)
c.20219T>A (p.Val6740Asp)
c.41714T>A (p.Val13905Asp)
c.41711T>A (p.Val13904Asp)
c.41144T>A (p.Val13715Asp)
c.38486T>A (p.Val12829Asp)
c.38405T>A (p.Val12802Asp)
c.20168T>A (p.Val6723Asp)
c.10022T>A (p.Val3341Asp)
2g.178618079C>ACA349618399TTN,TTN-AS1c.39568G>T (p.Val13190Phe)
c.20653G>T (p.Val6885Phe)
c.20452G>T (p.Val6818Phe)
c.20077G>T (p.Val6693Phe)
c.47272G>T (p.Val15758Phe)
c.42349G>T (p.Val14117Phe)
n.1605-1674C>A
c.46369G>T (p.Val15457Phe)
c.20263G>T (p.Val6755Phe)
c.20122G>T (p.Val6708Phe)
c.46165G>T (p.Val15389Phe)
c.41563G>T (p.Val13855Phe)
c.41560G>T (p.Val13854Phe)
c.38602G>T (p.Val12868Phe)
c.20218G>T (p.Val6740Phe)
c.41713G>T (p.Val13905Phe)
c.41710G>T (p.Val13904Phe)
c.41143G>T (p.Val13715Phe)
c.38485G>T (p.Val12829Phe)
c.38404G>T (p.Val12802Phe)
c.20167G>T (p.Val6723Phe)
c.10021G>T (p.Val3341Phe)
2g.178618079C=CA1310550904TTN,TTN-AS1c.39568G= (p.Val13190=)
c.20653G= (p.Val6885=)
c.20452G= (p.Val6818=)
c.20077G= (p.Val6693=)
c.47272G= (p.Val15758=)
c.42349G= (p.Val14117=)
n.1605-1674C=
c.46369G= (p.Val15457=)
c.20263G= (p.Val6755=)
c.20122G= (p.Val6708=)
c.46165G= (p.Val15389=)
c.41563G= (p.Val13855=)
c.41560G= (p.Val13854=)
c.38602G= (p.Val12868=)
c.20218G= (p.Val6740=)
c.41713G= (p.Val13905=)
c.41710G= (p.Val13904=)
c.41143G= (p.Val13715=)
c.38485G= (p.Val12829=)
c.38404G= (p.Val12802=)
c.20167G= (p.Val6723=)
c.10021G= (p.Val3341=)
2g.178618079C>GCA349618401TTN,TTN-AS1c.39568G>C (p.Val13190Leu)
c.20653G>C (p.Val6885Leu)
c.20452G>C (p.Val6818Leu)
c.20077G>C (p.Val6693Leu)
c.47272G>C (p.Val15758Leu)
c.42349G>C (p.Val14117Leu)
n.1605-1674C>G
c.46369G>C (p.Val15457Leu)
c.20263G>C (p.Val6755Leu)
c.20122G>C (p.Val6708Leu)
c.46165G>C (p.Val15389Leu)
c.41563G>C (p.Val13855Leu)
c.41560G>C (p.Val13854Leu)
c.38602G>C (p.Val12868Leu)
c.20218G>C (p.Val6740Leu)
c.41713G>C (p.Val13905Leu)
c.41710G>C (p.Val13904Leu)
c.41143G>C (p.Val13715Leu)
c.38485G>C (p.Val12829Leu)
c.38404G>C (p.Val12802Leu)
c.20167G>C (p.Val6723Leu)
c.10021G>C (p.Val3341Leu)
2g.178618079C>TCA349618402TTN,TTN-AS1c.39568G>A (p.Val13190Ile)
c.20653G>A (p.Val6885Ile)
c.20452G>A (p.Val6818Ile)
c.20077G>A (p.Val6693Ile)
c.47272G>A (p.Val15758Ile)
c.42349G>A (p.Val14117Ile)
n.1605-1674C>T
c.46369G>A (p.Val15457Ile)
c.20263G>A (p.Val6755Ile)
c.20122G>A (p.Val6708Ile)
c.46165G>A (p.Val15389Ile)
c.41563G>A (p.Val13855Ile)
c.41560G>A (p.Val13854Ile)
c.38602G>A (p.Val12868Ile)
c.20218G>A (p.Val6740Ile)
c.41713G>A (p.Val13905Ile)
c.41710G>A (p.Val13904Ile)
c.41143G>A (p.Val13715Ile)
c.38485G>A (p.Val12829Ile)
c.38404G>A (p.Val12802Ile)
c.20167G>A (p.Val6723Ile)
c.10021G>A (p.Val3341Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178618080A=CA1310550905TTN,TTN-AS1c.39567T= (p.Asp13189=)
c.20652T= (p.Asp6884=)
c.20451T= (p.Asp6817=)
c.20076T= (p.Asp6692=)
c.47271T= (p.Asp15757=)
c.42348T= (p.Asp14116=)
n.1605-1673A=
c.46368T= (p.Asp15456=)
c.20262T= (p.Asp6754=)
c.20121T= (p.Asp6707=)
c.46164T= (p.Asp15388=)
c.41562T= (p.Asp13854=)
c.41559T= (p.Asp13853=)
c.38601T= (p.Asp12867=)
c.20217T= (p.Asp6739=)
c.41712T= (p.Asp13904=)
c.41709T= (p.Asp13903=)
c.41142T= (p.Asp13714=)
c.38484T= (p.Asp12828=)
c.38403T= (p.Asp12801=)
c.20166T= (p.Asp6722=)
c.10020T= (p.Asp3340=)
2g.178618080A>CCA349618409TTN,TTN-AS1c.39567T>G (p.Asp13189Glu)
c.20652T>G (p.Asp6884Glu)
c.20451T>G (p.Asp6817Glu)
c.20076T>G (p.Asp6692Glu)
c.47271T>G (p.Asp15757Glu)
c.42348T>G (p.Asp14116Glu)
n.1605-1673A>C
c.46368T>G (p.Asp15456Glu)
c.20262T>G (p.Asp6754Glu)
c.20121T>G (p.Asp6707Glu)
c.46164T>G (p.Asp15388Glu)
c.41562T>G (p.Asp13854Glu)
c.41559T>G (p.Asp13853Glu)
c.38601T>G (p.Asp12867Glu)
c.20217T>G (p.Asp6739Glu)
c.41712T>G (p.Asp13904Glu)
c.41709T>G (p.Asp13903Glu)
c.41142T>G (p.Asp13714Glu)
c.38484T>G (p.Asp12828Glu)
c.38403T>G (p.Asp12801Glu)
c.20166T>G (p.Asp6722Glu)
c.10020T>G (p.Asp3340Glu)
2g.178618080A>GCA283298TTN,TTN-AS1c.39567T>C (p.Asp13189=)
c.20652T>C (p.Asp6884=)
c.20451T>C (p.Asp6817=)
c.20076T>C (p.Asp6692=)
c.47271T>C (p.Asp15757=)
c.42348T>C (p.Asp14116=)
n.1605-1673A>G
c.46368T>C (p.Asp15456=)
c.20262T>C (p.Asp6754=)
c.20121T>C (p.Asp6707=)
c.46164T>C (p.Asp15388=)
c.41562T>C (p.Asp13854=)
c.41559T>C (p.Asp13853=)
c.38601T>C (p.Asp12867=)
c.20217T>C (p.Asp6739=)
c.41712T>C (p.Asp13904=)
c.41709T>C (p.Asp13903=)
c.41142T>C (p.Asp13714=)
c.38484T>C (p.Asp12828=)
c.38403T>C (p.Asp12801=)
c.20166T>C (p.Asp6722=)
c.10020T>C (p.Asp3340=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618080A>TCA349618413TTN,TTN-AS1c.39567T>A (p.Asp13189Glu)
c.20652T>A (p.Asp6884Glu)
c.20451T>A (p.Asp6817Glu)
c.20076T>A (p.Asp6692Glu)
c.47271T>A (p.Asp15757Glu)
c.42348T>A (p.Asp14116Glu)
n.1605-1673A>T
c.46368T>A (p.Asp15456Glu)
c.20262T>A (p.Asp6754Glu)
c.20121T>A (p.Asp6707Glu)
c.46164T>A (p.Asp15388Glu)
c.41562T>A (p.Asp13854Glu)
c.41559T>A (p.Asp13853Glu)
c.38601T>A (p.Asp12867Glu)
c.20217T>A (p.Asp6739Glu)
c.41712T>A (p.Asp13904Glu)
c.41709T>A (p.Asp13903Glu)
c.41142T>A (p.Asp13714Glu)
c.38484T>A (p.Asp12828Glu)
c.38403T>A (p.Asp12801Glu)
c.20166T>A (p.Asp6722Glu)
c.10020T>A (p.Asp3340Glu)
2g.178618081T>ACA349618420TTN,TTN-AS1c.39566A>T (p.Asp13189Val)
c.20651A>T (p.Asp6884Val)
c.20450A>T (p.Asp6817Val)
c.20075A>T (p.Asp6692Val)
c.47270A>T (p.Asp15757Val)
c.42347A>T (p.Asp14116Val)
n.1605-1672T>A
c.46367A>T (p.Asp15456Val)
c.20261A>T (p.Asp6754Val)
c.20120A>T (p.Asp6707Val)
c.46163A>T (p.Asp15388Val)
c.41561A>T (p.Asp13854Val)
c.41558A>T (p.Asp13853Val)
c.38600A>T (p.Asp12867Val)
c.20216A>T (p.Asp6739Val)
c.41711A>T (p.Asp13904Val)
c.41708A>T (p.Asp13903Val)
c.41141A>T (p.Asp13714Val)
c.38483A>T (p.Asp12828Val)
c.38402A>T (p.Asp12801Val)
c.20165A>T (p.Asp6722Val)
c.10019A>T (p.Asp3340Val)
2g.178618081T>CCA349618423TTN,TTN-AS1c.39566A>G (p.Asp13189Gly)
c.20651A>G (p.Asp6884Gly)
c.20450A>G (p.Asp6817Gly)
c.20075A>G (p.Asp6692Gly)
c.47270A>G (p.Asp15757Gly)
c.42347A>G (p.Asp14116Gly)
n.1605-1672T>C
c.46367A>G (p.Asp15456Gly)
c.20261A>G (p.Asp6754Gly)
c.20120A>G (p.Asp6707Gly)
c.46163A>G (p.Asp15388Gly)
c.41561A>G (p.Asp13854Gly)
c.41558A>G (p.Asp13853Gly)
c.38600A>G (p.Asp12867Gly)
c.20216A>G (p.Asp6739Gly)
c.41711A>G (p.Asp13904Gly)
c.41708A>G (p.Asp13903Gly)
c.41141A>G (p.Asp13714Gly)
c.38483A>G (p.Asp12828Gly)
c.38402A>G (p.Asp12801Gly)
c.20165A>G (p.Asp6722Gly)
c.10019A>G (p.Asp3340Gly)
 gnomAD v4
2g.178618081T>GCA349618430TTN,TTN-AS1c.39566A>C (p.Asp13189Ala)
c.20651A>C (p.Asp6884Ala)
c.20450A>C (p.Asp6817Ala)
c.20075A>C (p.Asp6692Ala)
c.47270A>C (p.Asp15757Ala)
c.42347A>C (p.Asp14116Ala)
n.1605-1672T>G
c.46367A>C (p.Asp15456Ala)
c.20261A>C (p.Asp6754Ala)
c.20120A>C (p.Asp6707Ala)
c.46163A>C (p.Asp15388Ala)
c.41561A>C (p.Asp13854Ala)
c.41558A>C (p.Asp13853Ala)
c.38600A>C (p.Asp12867Ala)
c.20216A>C (p.Asp6739Ala)
c.41711A>C (p.Asp13904Ala)
c.41708A>C (p.Asp13903Ala)
c.41141A>C (p.Asp13714Ala)
c.38483A>C (p.Asp12828Ala)
c.38402A>C (p.Asp12801Ala)
c.20165A>C (p.Asp6722Ala)
c.10019A>C (p.Asp3340Ala)
2g.178618082C>ACA349618442TTN,TTN-AS1c.39566-1G>T (n.39566-1G>T)
c.20651-1G>T (n.20651-1G>T)
c.20450-1G>T (n.20450-1G>T)
c.20075-1G>T (n.20075-1G>T)
c.47270-1G>T (n.47270-1G>T)
c.42347-1G>T (n.42347-1G>T)
n.1605-1671C>A
c.46367-1G>T (n.46367-1G>T)
c.20261-1G>T (n.20261-1G>T)
c.20120-1G>T (n.20120-1G>T)
c.46163-1G>T (n.46163-1G>T)
c.41561-1G>T (n.41561-1G>T)
c.41558-1G>T (n.41558-1G>T)
c.38600-1G>T (n.38600-1G>T)
c.20216-1G>T (n.20216-1G>T)
c.41711-1G>T (n.41711-1G>T)
c.41708-1G>T (n.41708-1G>T)
c.41141-1G>T (n.41141-1G>T)
c.38483-1G>T (n.38483-1G>T)
c.38402-1G>T (n.38402-1G>T)
c.20165-1G>T (n.20165-1G>T)
c.10019-1G>T (n.10019-1G>T)
2g.178618082C>GCA349618466TTN,TTN-AS1c.39566-1G>C (n.39566-1G>C)
c.20651-1G>C (n.20651-1G>C)
c.20450-1G>C (n.20450-1G>C)
c.20075-1G>C (n.20075-1G>C)
c.47270-1G>C (n.47270-1G>C)
c.42347-1G>C (n.42347-1G>C)
n.1605-1671C>G
c.46367-1G>C (n.46367-1G>C)
c.20261-1G>C (n.20261-1G>C)
c.20120-1G>C (n.20120-1G>C)
c.46163-1G>C (n.46163-1G>C)
c.41561-1G>C (n.41561-1G>C)
c.41558-1G>C (n.41558-1G>C)
c.38600-1G>C (n.38600-1G>C)
c.20216-1G>C (n.20216-1G>C)
c.41711-1G>C (n.41711-1G>C)
c.41708-1G>C (n.41708-1G>C)
c.41141-1G>C (n.41141-1G>C)
c.38483-1G>C (n.38483-1G>C)
c.38402-1G>C (n.38402-1G>C)
c.20165-1G>C (n.20165-1G>C)
c.10019-1G>C (n.10019-1G>C)
2g.178618082C>TCA349618468TTN,TTN-AS1c.39566-1G>A (n.39566-1G>A)
c.20651-1G>A (n.20651-1G>A)
c.20450-1G>A (n.20450-1G>A)
c.20075-1G>A (n.20075-1G>A)
c.47270-1G>A (n.47270-1G>A)
c.42347-1G>A (n.42347-1G>A)
n.1605-1671C>T
c.46367-1G>A (n.46367-1G>A)
c.20261-1G>A (n.20261-1G>A)
c.20120-1G>A (n.20120-1G>A)
c.46163-1G>A (n.46163-1G>A)
c.41561-1G>A (n.41561-1G>A)
c.41558-1G>A (n.41558-1G>A)
c.38600-1G>A (n.38600-1G>A)
c.20216-1G>A (n.20216-1G>A)
c.41711-1G>A (n.41711-1G>A)
c.41708-1G>A (n.41708-1G>A)
c.41141-1G>A (n.41141-1G>A)
c.38483-1G>A (n.38483-1G>A)
c.38402-1G>A (n.38402-1G>A)
c.20165-1G>A (n.20165-1G>A)
c.10019-1G>A (n.10019-1G>A)
2g.178618083T>ACA349618474TTN,TTN-AS1c.39566-2A>T (n.39566-2A>T)
c.20651-2A>T (n.20651-2A>T)
c.20450-2A>T (n.20450-2A>T)
c.20075-2A>T (n.20075-2A>T)
c.47270-2A>T (n.47270-2A>T)
c.42347-2A>T (n.42347-2A>T)
n.1605-1670T>A
c.46367-2A>T (n.46367-2A>T)
c.20261-2A>T (n.20261-2A>T)
c.20120-2A>T (n.20120-2A>T)
c.46163-2A>T (n.46163-2A>T)
c.41561-2A>T (n.41561-2A>T)
c.41558-2A>T (n.41558-2A>T)
c.38600-2A>T (n.38600-2A>T)
c.20216-2A>T (n.20216-2A>T)
c.41711-2A>T (n.41711-2A>T)
c.41708-2A>T (n.41708-2A>T)
c.41141-2A>T (n.41141-2A>T)
c.38483-2A>T (n.38483-2A>T)
c.38402-2A>T (n.38402-2A>T)
c.20165-2A>T (n.20165-2A>T)
c.10019-2A>T (n.10019-2A>T)
2g.178618083T>CCA349618477TTN,TTN-AS1c.39566-2A>G (n.39566-2A>G)
c.20651-2A>G (n.20651-2A>G)
c.20450-2A>G (n.20450-2A>G)
c.20075-2A>G (n.20075-2A>G)
c.47270-2A>G (n.47270-2A>G)
c.42347-2A>G (n.42347-2A>G)
n.1605-1670T>C
c.46367-2A>G (n.46367-2A>G)
c.20261-2A>G (n.20261-2A>G)
c.20120-2A>G (n.20120-2A>G)
c.46163-2A>G (n.46163-2A>G)
c.41561-2A>G (n.41561-2A>G)
c.41558-2A>G (n.41558-2A>G)
c.38600-2A>G (n.38600-2A>G)
c.20216-2A>G (n.20216-2A>G)
c.41711-2A>G (n.41711-2A>G)
c.41708-2A>G (n.41708-2A>G)
c.41141-2A>G (n.41141-2A>G)
c.38483-2A>G (n.38483-2A>G)
c.38402-2A>G (n.38402-2A>G)
c.20165-2A>G (n.20165-2A>G)
c.10019-2A>G (n.10019-2A>G)
2g.178618083T>GCA349618471TTN,TTN-AS1c.39566-2A>C (n.39566-2A>C)
c.20651-2A>C (n.20651-2A>C)
c.20450-2A>C (n.20450-2A>C)
c.20075-2A>C (n.20075-2A>C)
c.47270-2A>C (n.47270-2A>C)
c.42347-2A>C (n.42347-2A>C)
n.1605-1670T>G
c.46367-2A>C (n.46367-2A>C)
c.20261-2A>C (n.20261-2A>C)
c.20120-2A>C (n.20120-2A>C)
c.46163-2A>C (n.46163-2A>C)
c.41561-2A>C (n.41561-2A>C)
c.41558-2A>C (n.41558-2A>C)
c.38600-2A>C (n.38600-2A>C)
c.20216-2A>C (n.20216-2A>C)
c.41711-2A>C (n.41711-2A>C)
c.41708-2A>C (n.41708-2A>C)
c.41141-2A>C (n.41141-2A>C)
c.38483-2A>C (n.38483-2A>C)
c.38402-2A>C (n.38402-2A>C)
c.20165-2A>C (n.20165-2A>C)
c.10019-2A>C (n.10019-2A>C)
2g.178618083_178618086delinsTGGACA1310550906TTN,TTN-AS1c.39566-5_39566-2delinsTCCA (n.39566-5_39566-2delinsTCCA)
c.20651-5_20651-2delinsTCCA (n.20651-5_20651-2delinsTCCA)
c.20450-5_20450-2delinsTCCA (n.20450-5_20450-2delinsTCCA)
c.20075-5_20075-2delinsTCCA (n.20075-5_20075-2delinsTCCA)
c.47270-5_47270-2delinsTCCA (n.47270-5_47270-2delinsTCCA)
c.42347-5_42347-2delinsTCCA (n.42347-5_42347-2delinsTCCA)
n.1605-1670_1605-1667delinsTGGA
c.46367-5_46367-2delinsTCCA (n.46367-5_46367-2delinsTCCA)
c.20261-5_20261-2delinsTCCA (n.20261-5_20261-2delinsTCCA)
c.20120-5_20120-2delinsTCCA (n.20120-5_20120-2delinsTCCA)
c.46163-5_46163-2delinsTCCA (n.46163-5_46163-2delinsTCCA)
c.41561-5_41561-2delinsTCCA (n.41561-5_41561-2delinsTCCA)
c.41558-5_41558-2delinsTCCA (n.41558-5_41558-2delinsTCCA)
c.38600-5_38600-2delinsTCCA (n.38600-5_38600-2delinsTCCA)
c.20216-5_20216-2delinsTCCA (n.20216-5_20216-2delinsTCCA)
c.41711-5_41711-2delinsTCCA (n.41711-5_41711-2delinsTCCA)
c.41708-5_41708-2delinsTCCA (n.41708-5_41708-2delinsTCCA)
c.41141-5_41141-2delinsTCCA (n.41141-5_41141-2delinsTCCA)
c.38483-5_38483-2delinsTCCA (n.38483-5_38483-2delinsTCCA)
c.38402-5_38402-2delinsTCCA (n.38402-5_38402-2delinsTCCA)
c.20165-5_20165-2delinsTCCA (n.20165-5_20165-2delinsTCCA)
c.10019-5_10019-2delinsTCCA (n.10019-5_10019-2delinsTCCA)
2g.178618084G>ACA1995076TTN,TTN-AS1c.39566-3C>T (n.39566-3C>T)
c.20651-3C>T (n.20651-3C>T)
c.20450-3C>T (n.20450-3C>T)
c.20075-3C>T (n.20075-3C>T)
c.47270-3C>T (n.47270-3C>T)
c.42347-3C>T (n.42347-3C>T)
n.1605-1669G>A
c.46367-3C>T (n.46367-3C>T)
c.20261-3C>T (n.20261-3C>T)
c.20120-3C>T (n.20120-3C>T)
c.46163-3C>T (n.46163-3C>T)
c.41561-3C>T (n.41561-3C>T)
c.41558-3C>T (n.41558-3C>T)
c.38600-3C>T (n.38600-3C>T)
c.20216-3C>T (n.20216-3C>T)
c.41711-3C>T (n.41711-3C>T)
c.41708-3C>T (n.41708-3C>T)
c.41141-3C>T (n.41141-3C>T)
c.38483-3C>T (n.38483-3C>T)
c.38402-3C>T (n.38402-3C>T)
c.20165-3C>T (n.20165-3C>T)
c.10019-3C>T (n.10019-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618084G=CA1310550907TTN,TTN-AS1c.39566-3C= (n.39566-3C=)
c.20651-3C= (n.20651-3C=)
c.20450-3C= (n.20450-3C=)
c.20075-3C= (n.20075-3C=)
c.47270-3C= (n.47270-3C=)
c.42347-3C= (n.42347-3C=)
n.1605-1669G=
c.46367-3C= (n.46367-3C=)
c.20261-3C= (n.20261-3C=)
c.20120-3C= (n.20120-3C=)
c.46163-3C= (n.46163-3C=)
c.41561-3C= (n.41561-3C=)
c.41558-3C= (n.41558-3C=)
c.38600-3C= (n.38600-3C=)
c.20216-3C= (n.20216-3C=)
c.41711-3C= (n.41711-3C=)
c.41708-3C= (n.41708-3C=)
c.41141-3C= (n.41141-3C=)
c.38483-3C= (n.38483-3C=)
c.38402-3C= (n.38402-3C=)
c.20165-3C= (n.20165-3C=)
c.10019-3C= (n.10019-3C=)
2g.178618084_178618086delCA1995075TTN,TTN-AS1c.39566-5_39566-3del (n.39566-5_39566-3del)
c.20651-5_20651-3del (n.20651-5_20651-3del)
c.20450-5_20450-3del (n.20450-5_20450-3del)
c.20075-5_20075-3del (n.20075-5_20075-3del)
c.47270-5_47270-3del (n.47270-5_47270-3del)
c.42347-5_42347-3del (n.42347-5_42347-3del)
n.1605-1669_1605-1667del
c.46367-5_46367-3del (n.46367-5_46367-3del)
c.20261-5_20261-3del (n.20261-5_20261-3del)
c.20120-5_20120-3del (n.20120-5_20120-3del)
c.46163-5_46163-3del (n.46163-5_46163-3del)
c.41561-5_41561-3del (n.41561-5_41561-3del)
c.41558-5_41558-3del (n.41558-5_41558-3del)
c.38600-5_38600-3del (n.38600-5_38600-3del)
c.20216-5_20216-3del (n.20216-5_20216-3del)
c.41711-5_41711-3del (n.41711-5_41711-3del)
c.41708-5_41708-3del (n.41708-5_41708-3del)
c.41141-5_41141-3del (n.41141-5_41141-3del)
c.38483-5_38483-3del (n.38483-5_38483-3del)
c.38402-5_38402-3del (n.38402-5_38402-3del)
c.20165-5_20165-3del (n.20165-5_20165-3del)
c.10019-5_10019-3del (n.10019-5_10019-3del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618087T>CCA2662134643TTN,TTN-AS1c.39566-6A>G (n.39566-6A>G)
c.20651-6A>G (n.20651-6A>G)
c.20450-6A>G (n.20450-6A>G)
c.20075-6A>G (n.20075-6A>G)
c.47270-6A>G (n.47270-6A>G)
c.42347-6A>G (n.42347-6A>G)
n.1605-1666T>C
c.46367-6A>G (n.46367-6A>G)
c.20261-6A>G (n.20261-6A>G)
c.20120-6A>G (n.20120-6A>G)
c.46163-6A>G (n.46163-6A>G)
c.41561-6A>G (n.41561-6A>G)
c.41558-6A>G (n.41558-6A>G)
c.38600-6A>G (n.38600-6A>G)
c.20216-6A>G (n.20216-6A>G)
c.41711-6A>G (n.41711-6A>G)
c.41708-6A>G (n.41708-6A>G)
c.41141-6A>G (n.41141-6A>G)
c.38483-6A>G (n.38483-6A>G)
c.38402-6A>G (n.38402-6A>G)
c.20165-6A>G (n.20165-6A>G)
c.10019-6A>G (n.10019-6A>G)
 gnomAD v4
2g.178618087T>GCA2577171291TTN,TTN-AS1c.39566-6A>C (n.39566-6A>C)
c.20651-6A>C (n.20651-6A>C)
c.20450-6A>C (n.20450-6A>C)
c.20075-6A>C (n.20075-6A>C)
c.47270-6A>C (n.47270-6A>C)
c.42347-6A>C (n.42347-6A>C)
n.1605-1666T>G
c.46367-6A>C (n.46367-6A>C)
c.20261-6A>C (n.20261-6A>C)
c.20120-6A>C (n.20120-6A>C)
c.46163-6A>C (n.46163-6A>C)
c.41561-6A>C (n.41561-6A>C)
c.41558-6A>C (n.41558-6A>C)
c.38600-6A>C (n.38600-6A>C)
c.20216-6A>C (n.20216-6A>C)
c.41711-6A>C (n.41711-6A>C)
c.41708-6A>C (n.41708-6A>C)
c.41141-6A>C (n.41141-6A>C)
c.38483-6A>C (n.38483-6A>C)
c.38402-6A>C (n.38402-6A>C)
c.20165-6A>C (n.20165-6A>C)
c.10019-6A>C (n.10019-6A>C)
2g.178618087_178618120delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGGCA1310550908TTN,TTN-AS1c.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.39566-39_39566-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20651-39_20651-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20450-39_20450-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20075-39_20075-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.47270-39_47270-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.42347-39_42347-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
n.1605-1666_1605-1633delinsTTTCACCACAGAAGAAGAAAATATGAGTTTGGGG
c.46367-39_46367-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.46367-39_46367-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20261-39_20261-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20261-39_20261-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20120-39_20120-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20120-39_20120-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.46163-39_46163-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.46163-39_46163-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.41561-39_41561-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41561-39_41561-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.41558-39_41558-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41558-39_41558-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.38600-39_38600-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.38600-39_38600-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20216-39_20216-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20216-39_20216-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.41711-39_41711-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41711-39_41711-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.41708-39_41708-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41708-39_41708-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.41141-39_41141-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.41141-39_41141-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.38483-39_38483-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.38483-39_38483-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.38402-39_38402-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.38402-39_38402-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.20165-39_20165-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.20165-39_20165-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
c.10019-39_10019-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA (n.10019-39_10019-6delinsCCCCAAACTCATATTTTCTTCTTCTGTGGTGAAA)
2g.178618089_178618121delCA1995077TTN,TTN-AS1c.39566-39_39566-7del (n.39566-39_39566-7del)
c.20651-39_20651-7del (n.20651-39_20651-7del)
c.20450-39_20450-7del (n.20450-39_20450-7del)
c.20075-39_20075-7del (n.20075-39_20075-7del)
c.47270-39_47270-7del (n.47270-39_47270-7del)
c.42347-39_42347-7del (n.42347-39_42347-7del)
n.1605-1664_1605-1632del
c.46367-39_46367-7del (n.46367-39_46367-7del)
c.20261-39_20261-7del (n.20261-39_20261-7del)
c.20120-39_20120-7del (n.20120-39_20120-7del)
c.46163-39_46163-7del (n.46163-39_46163-7del)
c.41561-39_41561-7del (n.41561-39_41561-7del)
c.41558-39_41558-7del (n.41558-39_41558-7del)
c.38600-39_38600-7del (n.38600-39_38600-7del)
c.20216-39_20216-7del (n.20216-39_20216-7del)
c.41711-39_41711-7del (n.41711-39_41711-7del)
c.41708-39_41708-7del (n.41708-39_41708-7del)
c.41141-39_41141-7del (n.41141-39_41141-7del)
c.38483-39_38483-7del (n.38483-39_38483-7del)
c.38402-39_38402-7del (n.38402-39_38402-7del)
c.20165-39_20165-7del (n.20165-39_20165-7del)
c.10019-39_10019-7del (n.10019-39_10019-7del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618091_178618092delinsACCA1310550909TTN,TTN-AS1c.39566-11_39566-10delinsGT (n.39566-11_39566-10delinsGT)
c.20651-11_20651-10delinsGT (n.20651-11_20651-10delinsGT)
c.20450-11_20450-10delinsGT (n.20450-11_20450-10delinsGT)
c.20075-11_20075-10delinsGT (n.20075-11_20075-10delinsGT)
c.47270-11_47270-10delinsGT (n.47270-11_47270-10delinsGT)
c.42347-11_42347-10delinsGT (n.42347-11_42347-10delinsGT)
n.1605-1662_1605-1661delinsAC
c.46367-11_46367-10delinsGT (n.46367-11_46367-10delinsGT)
c.20261-11_20261-10delinsGT (n.20261-11_20261-10delinsGT)
c.20120-11_20120-10delinsGT (n.20120-11_20120-10delinsGT)
c.46163-11_46163-10delinsGT (n.46163-11_46163-10delinsGT)
c.41561-11_41561-10delinsGT (n.41561-11_41561-10delinsGT)
c.41558-11_41558-10delinsGT (n.41558-11_41558-10delinsGT)
c.38600-11_38600-10delinsGT (n.38600-11_38600-10delinsGT)
c.20216-11_20216-10delinsGT (n.20216-11_20216-10delinsGT)
c.41711-11_41711-10delinsGT (n.41711-11_41711-10delinsGT)
c.41708-11_41708-10delinsGT (n.41708-11_41708-10delinsGT)
c.41141-11_41141-10delinsGT (n.41141-11_41141-10delinsGT)
c.38483-11_38483-10delinsGT (n.38483-11_38483-10delinsGT)
c.38402-11_38402-10delinsGT (n.38402-11_38402-10delinsGT)
c.20165-11_20165-10delinsGT (n.20165-11_20165-10delinsGT)
c.10019-11_10019-10delinsGT (n.10019-11_10019-10delinsGT)
2g.178618093delCA60990567TTN,TTN-AS1c.39566-11del (n.39566-11del)
c.20651-11del (n.20651-11del)
c.20450-11del (n.20450-11del)
c.20075-11del (n.20075-11del)
c.47270-11del (n.47270-11del)
c.42347-11del (n.42347-11del)
n.1605-1660del
c.46367-11del (n.46367-11del)
c.20261-11del (n.20261-11del)
c.20120-11del (n.20120-11del)
c.46163-11del (n.46163-11del)
c.41561-11del (n.41561-11del)
c.41558-11del (n.41558-11del)
c.38600-11del (n.38600-11del)
c.20216-11del (n.20216-11del)
c.41711-11del (n.41711-11del)
c.41708-11del (n.41708-11del)
c.41141-11del (n.41141-11del)
c.38483-11del (n.38483-11del)
c.38402-11del (n.38402-11del)
c.20165-11del (n.20165-11del)
c.10019-11del (n.10019-11del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178618095C>TCA2740096126TTN,TTN-AS1c.39566-14G>A (n.39566-14G>A)
c.20651-14G>A (n.20651-14G>A)
c.20450-14G>A (n.20450-14G>A)
c.20075-14G>A (n.20075-14G>A)
c.47270-14G>A (n.47270-14G>A)
c.42347-14G>A (n.42347-14G>A)
n.1605-1658C>T
c.46367-14G>A (n.46367-14G>A)
c.20261-14G>A (n.20261-14G>A)
c.20120-14G>A (n.20120-14G>A)
c.46163-14G>A (n.46163-14G>A)
c.41561-14G>A (n.41561-14G>A)
c.41558-14G>A (n.41558-14G>A)
c.38600-14G>A (n.38600-14G>A)
c.20216-14G>A (n.20216-14G>A)
c.41711-14G>A (n.41711-14G>A)
c.41708-14G>A (n.41708-14G>A)
c.41141-14G>A (n.41141-14G>A)
c.38483-14G>A (n.38483-14G>A)
c.38402-14G>A (n.38402-14G>A)
c.20165-14G>A (n.20165-14G>A)
c.10019-14G>A (n.10019-14G>A)
 ClinVar
2g.178618095_178618098delinsCAGACA1310550910TTN,TTN-AS1c.39566-17_39566-14delinsTCTG (n.39566-17_39566-14delinsTCTG)
c.20651-17_20651-14delinsTCTG (n.20651-17_20651-14delinsTCTG)
c.20450-17_20450-14delinsTCTG (n.20450-17_20450-14delinsTCTG)
c.20075-17_20075-14delinsTCTG (n.20075-17_20075-14delinsTCTG)
c.47270-17_47270-14delinsTCTG (n.47270-17_47270-14delinsTCTG)
c.42347-17_42347-14delinsTCTG (n.42347-17_42347-14delinsTCTG)
n.1605-1658_1605-1655delinsCAGA
c.46367-17_46367-14delinsTCTG (n.46367-17_46367-14delinsTCTG)
c.20261-17_20261-14delinsTCTG (n.20261-17_20261-14delinsTCTG)
c.20120-17_20120-14delinsTCTG (n.20120-17_20120-14delinsTCTG)
c.46163-17_46163-14delinsTCTG (n.46163-17_46163-14delinsTCTG)
c.41561-17_41561-14delinsTCTG (n.41561-17_41561-14delinsTCTG)
c.41558-17_41558-14delinsTCTG (n.41558-17_41558-14delinsTCTG)
c.38600-17_38600-14delinsTCTG (n.38600-17_38600-14delinsTCTG)
c.20216-17_20216-14delinsTCTG (n.20216-17_20216-14delinsTCTG)
c.41711-17_41711-14delinsTCTG (n.41711-17_41711-14delinsTCTG)
c.41708-17_41708-14delinsTCTG (n.41708-17_41708-14delinsTCTG)
c.41141-17_41141-14delinsTCTG (n.41141-17_41141-14delinsTCTG)
c.38483-17_38483-14delinsTCTG (n.38483-17_38483-14delinsTCTG)
c.38402-17_38402-14delinsTCTG (n.38402-17_38402-14delinsTCTG)
c.20165-17_20165-14delinsTCTG (n.20165-17_20165-14delinsTCTG)
c.10019-17_10019-14delinsTCTG (n.10019-17_10019-14delinsTCTG)
2g.178618103_178618105delCA538435872TTN,TTN-AS1c.39566-17_39566-15del (n.39566-17_39566-15del)
c.20651-17_20651-15del (n.20651-17_20651-15del)
c.20450-17_20450-15del (n.20450-17_20450-15del)
c.20075-17_20075-15del (n.20075-17_20075-15del)
c.47270-17_47270-15del (n.47270-17_47270-15del)
c.42347-17_42347-15del (n.42347-17_42347-15del)
n.1605-1650_1605-1648del
c.46367-17_46367-15del (n.46367-17_46367-15del)
c.20261-17_20261-15del (n.20261-17_20261-15del)
c.20120-17_20120-15del (n.20120-17_20120-15del)
c.46163-17_46163-15del (n.46163-17_46163-15del)
c.41561-17_41561-15del (n.41561-17_41561-15del)
c.41558-17_41558-15del (n.41558-17_41558-15del)
c.38600-17_38600-15del (n.38600-17_38600-15del)
c.20216-17_20216-15del (n.20216-17_20216-15del)
c.41711-17_41711-15del (n.41711-17_41711-15del)
c.41708-17_41708-15del (n.41708-17_41708-15del)
c.41141-17_41141-15del (n.41141-17_41141-15del)
c.38483-17_38483-15del (n.38483-17_38483-15del)
c.38402-17_38402-15del (n.38402-17_38402-15del)
c.20165-17_20165-15del (n.20165-17_20165-15del)
c.10019-17_10019-15del (n.10019-17_10019-15del)
 dbSNP gnomAD v2 gnomAD v4
2g.178618098A>GCA2662134649TTN,TTN-AS1c.39566-17T>C (n.39566-17T>C)
c.20651-17T>C (n.20651-17T>C)
c.20450-17T>C (n.20450-17T>C)
c.20075-17T>C (n.20075-17T>C)
c.47270-17T>C (n.47270-17T>C)
c.42347-17T>C (n.42347-17T>C)
n.1605-1655A>G
c.46367-17T>C (n.46367-17T>C)
c.20261-17T>C (n.20261-17T>C)
c.20120-17T>C (n.20120-17T>C)
c.46163-17T>C (n.46163-17T>C)
c.41561-17T>C (n.41561-17T>C)
c.41558-17T>C (n.41558-17T>C)
c.38600-17T>C (n.38600-17T>C)
c.20216-17T>C (n.20216-17T>C)
c.41711-17T>C (n.41711-17T>C)
c.41708-17T>C (n.41708-17T>C)
c.41141-17T>C (n.41141-17T>C)
c.38483-17T>C (n.38483-17T>C)
c.38402-17T>C (n.38402-17T>C)
c.20165-17T>C (n.20165-17T>C)
c.10019-17T>C (n.10019-17T>C)
 gnomAD v4
2g.178618099A>CCA2662134651TTN,TTN-AS1c.39566-18T>G (n.39566-18T>G)
c.20651-18T>G (n.20651-18T>G)
c.20450-18T>G (n.20450-18T>G)
c.20075-18T>G (n.20075-18T>G)
c.47270-18T>G (n.47270-18T>G)
c.42347-18T>G (n.42347-18T>G)
n.1605-1654A>C
c.46367-18T>G (n.46367-18T>G)
c.20261-18T>G (n.20261-18T>G)
c.20120-18T>G (n.20120-18T>G)
c.46163-18T>G (n.46163-18T>G)
c.41561-18T>G (n.41561-18T>G)
c.41558-18T>G (n.41558-18T>G)
c.38600-18T>G (n.38600-18T>G)
c.20216-18T>G (n.20216-18T>G)
c.41711-18T>G (n.41711-18T>G)
c.41708-18T>G (n.41708-18T>G)
c.41141-18T>G (n.41141-18T>G)
c.38483-18T>G (n.38483-18T>G)
c.38402-18T>G (n.38402-18T>G)
c.20165-18T>G (n.20165-18T>G)
c.10019-18T>G (n.10019-18T>G)
 gnomAD v4
2g.178618100delCA2662134653TTN,TTN-AS1c.39566-19del (n.39566-19del)
c.20651-19del (n.20651-19del)
c.20450-19del (n.20450-19del)
c.20075-19del (n.20075-19del)
c.47270-19del (n.47270-19del)
c.42347-19del (n.42347-19del)
n.1605-1653del
c.46367-19del (n.46367-19del)
c.20261-19del (n.20261-19del)
c.20120-19del (n.20120-19del)
c.46163-19del (n.46163-19del)
c.41561-19del (n.41561-19del)
c.41558-19del (n.41558-19del)
c.38600-19del (n.38600-19del)
c.20216-19del (n.20216-19del)
c.41711-19del (n.41711-19del)
c.41708-19del (n.41708-19del)
c.41141-19del (n.41141-19del)
c.38483-19del (n.38483-19del)
c.38402-19del (n.38402-19del)
c.20165-19del (n.20165-19del)
c.10019-19del (n.10019-19del)
 gnomAD v4
2g.178618100G>ACA2662134655TTN,TTN-AS1c.39566-19C>T (n.39566-19C>T)
c.20651-19C>T (n.20651-19C>T)
c.20450-19C>T (n.20450-19C>T)
c.20075-19C>T (n.20075-19C>T)
c.47270-19C>T (n.47270-19C>T)
c.42347-19C>T (n.42347-19C>T)
n.1605-1653G>A
c.46367-19C>T (n.46367-19C>T)
c.20261-19C>T (n.20261-19C>T)
c.20120-19C>T (n.20120-19C>T)
c.46163-19C>T (n.46163-19C>T)
c.41561-19C>T (n.41561-19C>T)
c.41558-19C>T (n.41558-19C>T)
c.38600-19C>T (n.38600-19C>T)
c.20216-19C>T (n.20216-19C>T)
c.41711-19C>T (n.41711-19C>T)
c.41708-19C>T (n.41708-19C>T)
c.41141-19C>T (n.41141-19C>T)
c.38483-19C>T (n.38483-19C>T)
c.38402-19C>T (n.38402-19C>T)
c.20165-19C>T (n.20165-19C>T)
c.10019-19C>T (n.10019-19C>T)
 gnomAD v4
2g.178618104A>CCA2662134658TTN,TTN-AS1c.39566-23T>G (n.39566-23T>G)
c.20651-23T>G (n.20651-23T>G)
c.20450-23T>G (n.20450-23T>G)
c.20075-23T>G (n.20075-23T>G)
c.47270-23T>G (n.47270-23T>G)
c.42347-23T>G (n.42347-23T>G)
n.1605-1649A>C
c.46367-23T>G (n.46367-23T>G)
c.20261-23T>G (n.20261-23T>G)
c.20120-23T>G (n.20120-23T>G)
c.46163-23T>G (n.46163-23T>G)
c.41561-23T>G (n.41561-23T>G)
c.41558-23T>G (n.41558-23T>G)
c.38600-23T>G (n.38600-23T>G)
c.20216-23T>G (n.20216-23T>G)
c.41711-23T>G (n.41711-23T>G)
c.41708-23T>G (n.41708-23T>G)
c.41141-23T>G (n.41141-23T>G)
c.38483-23T>G (n.38483-23T>G)
c.38402-23T>G (n.38402-23T>G)
c.20165-23T>G (n.20165-23T>G)
c.10019-23T>G (n.10019-23T>G)
 gnomAD v4
2g.178618107A=CA1310550911TTN,TTN-AS1c.39566-26T= (n.39566-26T=)
c.20651-26T= (n.20651-26T=)
c.20450-26T= (n.20450-26T=)
c.20075-26T= (n.20075-26T=)
c.47270-26T= (n.47270-26T=)
c.42347-26T= (n.42347-26T=)
n.1605-1646A=
c.46367-26T= (n.46367-26T=)
c.20261-26T= (n.20261-26T=)
c.20120-26T= (n.20120-26T=)
c.46163-26T= (n.46163-26T=)
c.41561-26T= (n.41561-26T=)
c.41558-26T= (n.41558-26T=)
c.38600-26T= (n.38600-26T=)
c.20216-26T= (n.20216-26T=)
c.41711-26T= (n.41711-26T=)
c.41708-26T= (n.41708-26T=)
c.41141-26T= (n.41141-26T=)
c.38483-26T= (n.38483-26T=)
c.38402-26T= (n.38402-26T=)
c.20165-26T= (n.20165-26T=)
c.10019-26T= (n.10019-26T=)
2g.178618107A>GCA1995078TTN,TTN-AS1c.39566-26T>C (n.39566-26T>C)
c.20651-26T>C (n.20651-26T>C)
c.20450-26T>C (n.20450-26T>C)
c.20075-26T>C (n.20075-26T>C)
c.47270-26T>C (n.47270-26T>C)
c.42347-26T>C (n.42347-26T>C)
n.1605-1646A>G
c.46367-26T>C (n.46367-26T>C)
c.20261-26T>C (n.20261-26T>C)
c.20120-26T>C (n.20120-26T>C)
c.46163-26T>C (n.46163-26T>C)
c.41561-26T>C (n.41561-26T>C)
c.41558-26T>C (n.41558-26T>C)
c.38600-26T>C (n.38600-26T>C)
c.20216-26T>C (n.20216-26T>C)
c.41711-26T>C (n.41711-26T>C)
c.41708-26T>C (n.41708-26T>C)
c.41141-26T>C (n.41141-26T>C)
c.38483-26T>C (n.38483-26T>C)
c.38402-26T>C (n.38402-26T>C)
c.20165-26T>C (n.20165-26T>C)
c.10019-26T>C (n.10019-26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618109A=CA1310550912TTN,TTN-AS1c.39566-28T= (n.39566-28T=)
c.20651-28T= (n.20651-28T=)
c.20450-28T= (n.20450-28T=)
c.20075-28T= (n.20075-28T=)
c.47270-28T= (n.47270-28T=)
c.42347-28T= (n.42347-28T=)
n.1605-1644A=
c.46367-28T= (n.46367-28T=)
c.20261-28T= (n.20261-28T=)
c.20120-28T= (n.20120-28T=)
c.46163-28T= (n.46163-28T=)
c.41561-28T= (n.41561-28T=)
c.41558-28T= (n.41558-28T=)
c.38600-28T= (n.38600-28T=)
c.20216-28T= (n.20216-28T=)
c.41711-28T= (n.41711-28T=)
c.41708-28T= (n.41708-28T=)
c.41141-28T= (n.41141-28T=)
c.38483-28T= (n.38483-28T=)
c.38402-28T= (n.38402-28T=)
c.20165-28T= (n.20165-28T=)
c.10019-28T= (n.10019-28T=)
2g.178618109A>GCA1995079TTN,TTN-AS1c.39566-28T>C (n.39566-28T>C)
c.20651-28T>C (n.20651-28T>C)
c.20450-28T>C (n.20450-28T>C)
c.20075-28T>C (n.20075-28T>C)
c.47270-28T>C (n.47270-28T>C)
c.42347-28T>C (n.42347-28T>C)
n.1605-1644A>G
c.46367-28T>C (n.46367-28T>C)
c.20261-28T>C (n.20261-28T>C)
c.20120-28T>C (n.20120-28T>C)
c.46163-28T>C (n.46163-28T>C)
c.41561-28T>C (n.41561-28T>C)
c.41558-28T>C (n.41558-28T>C)
c.38600-28T>C (n.38600-28T>C)
c.20216-28T>C (n.20216-28T>C)
c.41711-28T>C (n.41711-28T>C)
c.41708-28T>C (n.41708-28T>C)
c.41141-28T>C (n.41141-28T>C)
c.38483-28T>C (n.38483-28T>C)
c.38402-28T>C (n.38402-28T>C)
c.20165-28T>C (n.20165-28T>C)
c.10019-28T>C (n.10019-28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618110T>CCA60990575TTN,TTN-AS1c.39566-29A>G (n.39566-29A>G)
c.20651-29A>G (n.20651-29A>G)
c.20450-29A>G (n.20450-29A>G)
c.20075-29A>G (n.20075-29A>G)
c.47270-29A>G (n.47270-29A>G)
c.42347-29A>G (n.42347-29A>G)
n.1605-1643T>C
c.46367-29A>G (n.46367-29A>G)
c.20261-29A>G (n.20261-29A>G)
c.20120-29A>G (n.20120-29A>G)
c.46163-29A>G (n.46163-29A>G)
c.41561-29A>G (n.41561-29A>G)
c.41558-29A>G (n.41558-29A>G)
c.38600-29A>G (n.38600-29A>G)
c.20216-29A>G (n.20216-29A>G)
c.41711-29A>G (n.41711-29A>G)
c.41708-29A>G (n.41708-29A>G)
c.41141-29A>G (n.41141-29A>G)
c.38483-29A>G (n.38483-29A>G)
c.38402-29A>G (n.38402-29A>G)
c.20165-29A>G (n.20165-29A>G)
c.10019-29A>G (n.10019-29A>G)
 dbSNP gnomAD v4
2g.178618110T=CA1310550914TTN,TTN-AS1c.39566-29A= (n.39566-29A=)
c.20651-29A= (n.20651-29A=)
c.20450-29A= (n.20450-29A=)
c.20075-29A= (n.20075-29A=)
c.47270-29A= (n.47270-29A=)
c.42347-29A= (n.42347-29A=)
n.1605-1643T=
c.46367-29A= (n.46367-29A=)
c.20261-29A= (n.20261-29A=)
c.20120-29A= (n.20120-29A=)
c.46163-29A= (n.46163-29A=)
c.41561-29A= (n.41561-29A=)
c.41558-29A= (n.41558-29A=)
c.38600-29A= (n.38600-29A=)
c.20216-29A= (n.20216-29A=)
c.41711-29A= (n.41711-29A=)
c.41708-29A= (n.41708-29A=)
c.41141-29A= (n.41141-29A=)
c.38483-29A= (n.38483-29A=)
c.38402-29A= (n.38402-29A=)
c.20165-29A= (n.20165-29A=)
c.10019-29A= (n.10019-29A=)
2g.178618110_178618111delinsTGCA1310550913TTN,TTN-AS1c.39566-30_39566-29delinsCA (n.39566-30_39566-29delinsCA)
c.20651-30_20651-29delinsCA (n.20651-30_20651-29delinsCA)
c.20450-30_20450-29delinsCA (n.20450-30_20450-29delinsCA)
c.20075-30_20075-29delinsCA (n.20075-30_20075-29delinsCA)
c.47270-30_47270-29delinsCA (n.47270-30_47270-29delinsCA)
c.42347-30_42347-29delinsCA (n.42347-30_42347-29delinsCA)
n.1605-1643_1605-1642delinsTG
c.46367-30_46367-29delinsCA (n.46367-30_46367-29delinsCA)
c.20261-30_20261-29delinsCA (n.20261-30_20261-29delinsCA)
c.20120-30_20120-29delinsCA (n.20120-30_20120-29delinsCA)
c.46163-30_46163-29delinsCA (n.46163-30_46163-29delinsCA)
c.41561-30_41561-29delinsCA (n.41561-30_41561-29delinsCA)
c.41558-30_41558-29delinsCA (n.41558-30_41558-29delinsCA)
c.38600-30_38600-29delinsCA (n.38600-30_38600-29delinsCA)
c.20216-30_20216-29delinsCA (n.20216-30_20216-29delinsCA)
c.41711-30_41711-29delinsCA (n.41711-30_41711-29delinsCA)
c.41708-30_41708-29delinsCA (n.41708-30_41708-29delinsCA)
c.41141-30_41141-29delinsCA (n.41141-30_41141-29delinsCA)
c.38483-30_38483-29delinsCA (n.38483-30_38483-29delinsCA)
c.38402-30_38402-29delinsCA (n.38402-30_38402-29delinsCA)
c.20165-30_20165-29delinsCA (n.20165-30_20165-29delinsCA)
c.10019-30_10019-29delinsCA (n.10019-30_10019-29delinsCA)
2g.178618111delCA1995080TTN,TTN-AS1c.39566-30del (n.39566-30del)
c.20651-30del (n.20651-30del)
c.20450-30del (n.20450-30del)
c.20075-30del (n.20075-30del)
c.47270-30del (n.47270-30del)
c.42347-30del (n.42347-30del)
n.1605-1642del
c.46367-30del (n.46367-30del)
c.20261-30del (n.20261-30del)
c.20120-30del (n.20120-30del)
c.46163-30del (n.46163-30del)
c.41561-30del (n.41561-30del)
c.41558-30del (n.41558-30del)
c.38600-30del (n.38600-30del)
c.20216-30del (n.20216-30del)
c.41711-30del (n.41711-30del)
c.41708-30del (n.41708-30del)
c.41141-30del (n.41141-30del)
c.38483-30del (n.38483-30del)
c.38402-30del (n.38402-30del)
c.20165-30del (n.20165-30del)
c.10019-30del (n.10019-30del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618112A=CA1310550915TTN,TTN-AS1c.39566-31T= (n.39566-31T=)
c.20651-31T= (n.20651-31T=)
c.20450-31T= (n.20450-31T=)
c.20075-31T= (n.20075-31T=)
c.47270-31T= (n.47270-31T=)
c.42347-31T= (n.42347-31T=)
n.1605-1641A=
c.46367-31T= (n.46367-31T=)
c.20261-31T= (n.20261-31T=)
c.20120-31T= (n.20120-31T=)
c.46163-31T= (n.46163-31T=)
c.41561-31T= (n.41561-31T=)
c.41558-31T= (n.41558-31T=)
c.38600-31T= (n.38600-31T=)
c.20216-31T= (n.20216-31T=)
c.41711-31T= (n.41711-31T=)
c.41708-31T= (n.41708-31T=)
c.41141-31T= (n.41141-31T=)
c.38483-31T= (n.38483-31T=)
c.38402-31T= (n.38402-31T=)
c.20165-31T= (n.20165-31T=)
c.10019-31T= (n.10019-31T=)
2g.178618112A>GCA1995081TTN,TTN-AS1c.39566-31T>C (n.39566-31T>C)
c.20651-31T>C (n.20651-31T>C)
c.20450-31T>C (n.20450-31T>C)
c.20075-31T>C (n.20075-31T>C)
c.47270-31T>C (n.47270-31T>C)
c.42347-31T>C (n.42347-31T>C)
n.1605-1641A>G
c.46367-31T>C (n.46367-31T>C)
c.20261-31T>C (n.20261-31T>C)
c.20120-31T>C (n.20120-31T>C)
c.46163-31T>C (n.46163-31T>C)
c.41561-31T>C (n.41561-31T>C)
c.41558-31T>C (n.41558-31T>C)
c.38600-31T>C (n.38600-31T>C)
c.20216-31T>C (n.20216-31T>C)
c.41711-31T>C (n.41711-31T>C)
c.41708-31T>C (n.41708-31T>C)
c.41141-31T>C (n.41141-31T>C)
c.38483-31T>C (n.38483-31T>C)
c.38402-31T>C (n.38402-31T>C)
c.20165-31T>C (n.20165-31T>C)
c.10019-31T>C (n.10019-31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618115T>CCA2577171292TTN,TTN-AS1c.39566-34A>G (n.39566-34A>G)
c.20651-34A>G (n.20651-34A>G)
c.20450-34A>G (n.20450-34A>G)
c.20075-34A>G (n.20075-34A>G)
c.47270-34A>G (n.47270-34A>G)
c.42347-34A>G (n.42347-34A>G)
n.1605-1638T>C
c.46367-34A>G (n.46367-34A>G)
c.20261-34A>G (n.20261-34A>G)
c.20120-34A>G (n.20120-34A>G)
c.46163-34A>G (n.46163-34A>G)
c.41561-34A>G (n.41561-34A>G)
c.41558-34A>G (n.41558-34A>G)
c.38600-34A>G (n.38600-34A>G)
c.20216-34A>G (n.20216-34A>G)
c.41711-34A>G (n.41711-34A>G)
c.41708-34A>G (n.41708-34A>G)
c.41141-34A>G (n.41141-34A>G)
c.38483-34A>G (n.38483-34A>G)
c.38402-34A>G (n.38402-34A>G)
c.20165-34A>G (n.20165-34A>G)
c.10019-34A>G (n.10019-34A>G)
 gnomAD v4
2g.178618116T>CCA2662134664TTN,TTN-AS1c.39566-35A>G (n.39566-35A>G)
c.20651-35A>G (n.20651-35A>G)
c.20450-35A>G (n.20450-35A>G)
c.20075-35A>G (n.20075-35A>G)
c.47270-35A>G (n.47270-35A>G)
c.42347-35A>G (n.42347-35A>G)
n.1605-1637T>C
c.46367-35A>G (n.46367-35A>G)
c.20261-35A>G (n.20261-35A>G)
c.20120-35A>G (n.20120-35A>G)
c.46163-35A>G (n.46163-35A>G)
c.41561-35A>G (n.41561-35A>G)
c.41558-35A>G (n.41558-35A>G)
c.38600-35A>G (n.38600-35A>G)
c.20216-35A>G (n.20216-35A>G)
c.41711-35A>G (n.41711-35A>G)
c.41708-35A>G (n.41708-35A>G)
c.41141-35A>G (n.41141-35A>G)
c.38483-35A>G (n.38483-35A>G)
c.38402-35A>G (n.38402-35A>G)
c.20165-35A>G (n.20165-35A>G)
c.10019-35A>G (n.10019-35A>G)
 gnomAD v4
2g.178618117G>ACA60990589TTN,TTN-AS1c.39566-36C>T (n.39566-36C>T)
c.20651-36C>T (n.20651-36C>T)
c.20450-36C>T (n.20450-36C>T)
c.20075-36C>T (n.20075-36C>T)
c.47270-36C>T (n.47270-36C>T)
c.42347-36C>T (n.42347-36C>T)
n.1605-1636G>A
c.46367-36C>T (n.46367-36C>T)
c.20261-36C>T (n.20261-36C>T)
c.20120-36C>T (n.20120-36C>T)
c.46163-36C>T (n.46163-36C>T)
c.41561-36C>T (n.41561-36C>T)
c.41558-36C>T (n.41558-36C>T)
c.38600-36C>T (n.38600-36C>T)
c.20216-36C>T (n.20216-36C>T)
c.41711-36C>T (n.41711-36C>T)
c.41708-36C>T (n.41708-36C>T)
c.41141-36C>T (n.41141-36C>T)
c.38483-36C>T (n.38483-36C>T)
c.38402-36C>T (n.38402-36C>T)
c.20165-36C>T (n.20165-36C>T)
c.10019-36C>T (n.10019-36C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178618117G=CA1310550916TTN,TTN-AS1c.39566-36C= (n.39566-36C=)
c.20651-36C= (n.20651-36C=)
c.20450-36C= (n.20450-36C=)
c.20075-36C= (n.20075-36C=)
c.47270-36C= (n.47270-36C=)
c.42347-36C= (n.42347-36C=)
n.1605-1636G=
c.46367-36C= (n.46367-36C=)
c.20261-36C= (n.20261-36C=)
c.20120-36C= (n.20120-36C=)
c.46163-36C= (n.46163-36C=)
c.41561-36C= (n.41561-36C=)
c.41558-36C= (n.41558-36C=)
c.38600-36C= (n.38600-36C=)
c.20216-36C= (n.20216-36C=)
c.41711-36C= (n.41711-36C=)
c.41708-36C= (n.41708-36C=)
c.41141-36C= (n.41141-36C=)
c.38483-36C= (n.38483-36C=)
c.38402-36C= (n.38402-36C=)
c.20165-36C= (n.20165-36C=)
c.10019-36C= (n.10019-36C=)
2g.178618117G>TCA1995082TTN,TTN-AS1c.39566-36C>A (n.39566-36C>A)
c.20651-36C>A (n.20651-36C>A)
c.20450-36C>A (n.20450-36C>A)
c.20075-36C>A (n.20075-36C>A)
c.47270-36C>A (n.47270-36C>A)
c.42347-36C>A (n.42347-36C>A)
n.1605-1636G>T
c.46367-36C>A (n.46367-36C>A)
c.20261-36C>A (n.20261-36C>A)
c.20120-36C>A (n.20120-36C>A)
c.46163-36C>A (n.46163-36C>A)
c.41561-36C>A (n.41561-36C>A)
c.41558-36C>A (n.41558-36C>A)
c.38600-36C>A (n.38600-36C>A)
c.20216-36C>A (n.20216-36C>A)
c.41711-36C>A (n.41711-36C>A)
c.41708-36C>A (n.41708-36C>A)
c.41141-36C>A (n.41141-36C>A)
c.38483-36C>A (n.38483-36C>A)
c.38402-36C>A (n.38402-36C>A)
c.20165-36C>A (n.20165-36C>A)
c.10019-36C>A (n.10019-36C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178618118G>ACA2662134671TTN,TTN-AS1c.39566-37C>T (n.39566-37C>T)
c.20651-37C>T (n.20651-37C>T)
c.20450-37C>T (n.20450-37C>T)
c.20075-37C>T (n.20075-37C>T)
c.47270-37C>T (n.47270-37C>T)
c.42347-37C>T (n.42347-37C>T)
n.1605-1635G>A
c.46367-37C>T (n.46367-37C>T)
c.20261-37C>T (n.20261-37C>T)
c.20120-37C>T (n.20120-37C>T)
c.46163-37C>T (n.46163-37C>T)
c.41561-37C>T (n.41561-37C>T)
c.41558-37C>T (n.41558-37C>T)
c.38600-37C>T (n.38600-37C>T)
c.20216-37C>T (n.20216-37C>T)
c.41711-37C>T (n.41711-37C>T)
c.41708-37C>T (n.41708-37C>T)
c.41141-37C>T (n.41141-37C>T)
c.38483-37C>T (n.38483-37C>T)
c.38402-37C>T (n.38402-37C>T)
c.20165-37C>T (n.20165-37C>T)
c.10019-37C>T (n.10019-37C>T)
 gnomAD v4
2g.178618118G>CCA2577171293TTN,TTN-AS1c.39566-37C>G (n.39566-37C>G)
c.20651-37C>G (n.20651-37C>G)
c.20450-37C>G (n.20450-37C>G)
c.20075-37C>G (n.20075-37C>G)
c.47270-37C>G (n.47270-37C>G)
c.42347-37C>G (n.42347-37C>G)
n.1605-1635G>C
c.46367-37C>G (n.46367-37C>G)
c.20261-37C>G (n.20261-37C>G)
c.20120-37C>G (n.20120-37C>G)
c.46163-37C>G (n.46163-37C>G)
c.41561-37C>G (n.41561-37C>G)
c.41558-37C>G (n.41558-37C>G)
c.38600-37C>G (n.38600-37C>G)
c.20216-37C>G (n.20216-37C>G)
c.41711-37C>G (n.41711-37C>G)
c.41708-37C>G (n.41708-37C>G)
c.41141-37C>G (n.41141-37C>G)
c.38483-37C>G (n.38483-37C>G)
c.38402-37C>G (n.38402-37C>G)
c.20165-37C>G (n.20165-37C>G)
c.10019-37C>G (n.10019-37C>G)
2g.178618120G>ACA1310550918TTN,TTN-AS1c.39566-39C>T (n.39566-39C>T)
c.20651-39C>T (n.20651-39C>T)
c.20450-39C>T (n.20450-39C>T)
c.20075-39C>T (n.20075-39C>T)
c.47270-39C>T (n.47270-39C>T)
c.42347-39C>T (n.42347-39C>T)
n.1605-1633G>A
c.46367-39C>T (n.46367-39C>T)
c.20261-39C>T (n.20261-39C>T)
c.20120-39C>T (n.20120-39C>T)
c.46163-39C>T (n.46163-39C>T)
c.41561-39C>T (n.41561-39C>T)
c.41558-39C>T (n.41558-39C>T)
c.38600-39C>T (n.38600-39C>T)
c.20216-39C>T (n.20216-39C>T)
c.41711-39C>T (n.41711-39C>T)
c.41708-39C>T (n.41708-39C>T)
c.41141-39C>T (n.41141-39C>T)
c.38483-39C>T (n.38483-39C>T)
c.38402-39C>T (n.38402-39C>T)
c.20165-39C>T (n.20165-39C>T)
c.10019-39C>T (n.10019-39C>T)
 dbSNP gnomAD v4
2g.178618120G>CCA2662134676TTN,TTN-AS1c.39566-39C>G (n.39566-39C>G)
c.20651-39C>G (n.20651-39C>G)
c.20450-39C>G (n.20450-39C>G)
c.20075-39C>G (n.20075-39C>G)
c.47270-39C>G (n.47270-39C>G)
c.42347-39C>G (n.42347-39C>G)
n.1605-1633G>C
c.46367-39C>G (n.46367-39C>G)
c.20261-39C>G (n.20261-39C>G)
c.20120-39C>G (n.20120-39C>G)
c.46163-39C>G (n.46163-39C>G)
c.41561-39C>G (n.41561-39C>G)
c.41558-39C>G (n.41558-39C>G)
c.38600-39C>G (n.38600-39C>G)
c.20216-39C>G (n.20216-39C>G)
c.41711-39C>G (n.41711-39C>G)
c.41708-39C>G (n.41708-39C>G)
c.41141-39C>G (n.41141-39C>G)
c.38483-39C>G (n.38483-39C>G)
c.38402-39C>G (n.38402-39C>G)
c.20165-39C>G (n.20165-39C>G)
c.10019-39C>G (n.10019-39C>G)
 gnomAD v4
2g.178618120G=CA1310550917TTN,TTN-AS1c.39566-39C= (n.39566-39C=)
c.20651-39C= (n.20651-39C=)
c.20450-39C= (n.20450-39C=)
c.20075-39C= (n.20075-39C=)
c.47270-39C= (n.47270-39C=)
c.42347-39C= (n.42347-39C=)
n.1605-1633G=
c.46367-39C= (n.46367-39C=)
c.20261-39C= (n.20261-39C=)
c.20120-39C= (n.20120-39C=)
c.46163-39C= (n.46163-39C=)
c.41561-39C= (n.41561-39C=)
c.41558-39C= (n.41558-39C=)
c.38600-39C= (n.38600-39C=)
c.20216-39C= (n.20216-39C=)
c.41711-39C= (n.41711-39C=)
c.41708-39C= (n.41708-39C=)
c.41141-39C= (n.41141-39C=)
c.38483-39C= (n.38483-39C=)
c.38402-39C= (n.38402-39C=)
c.20165-39C= (n.20165-39C=)
c.10019-39C= (n.10019-39C=)
2g.178618124C>ACA761292240TTN,TTN-AS1c.39566-43G>T (n.39566-43G>T)
c.20651-43G>T (n.20651-43G>T)
c.20450-43G>T (n.20450-43G>T)
c.20075-43G>T (n.20075-43G>T)
c.47270-43G>T (n.47270-43G>T)
c.42347-43G>T (n.42347-43G>T)
n.1605-1629C>A
c.46367-43G>T (n.46367-43G>T)
c.20261-43G>T (n.20261-43G>T)
c.20120-43G>T (n.20120-43G>T)
c.46163-43G>T (n.46163-43G>T)
c.41561-43G>T (n.41561-43G>T)
c.41558-43G>T (n.41558-43G>T)
c.38600-43G>T (n.38600-43G>T)
c.20216-43G>T (n.20216-43G>T)
c.41711-43G>T (n.41711-43G>T)
c.41708-43G>T (n.41708-43G>T)
c.41141-43G>T (n.41141-43G>T)
c.38483-43G>T (n.38483-43G>T)
c.38402-43G>T (n.38402-43G>T)
c.20165-43G>T (n.20165-43G>T)
c.10019-43G>T (n.10019-43G>T)
 dbSNP
2g.178618124C=CA1310550919TTN,TTN-AS1c.39566-43G= (n.39566-43G=)
c.20651-43G= (n.20651-43G=)
c.20450-43G= (n.20450-43G=)
c.20075-43G= (n.20075-43G=)
c.47270-43G= (n.47270-43G=)
c.42347-43G= (n.42347-43G=)
n.1605-1629C=
c.46367-43G= (n.46367-43G=)
c.20261-43G= (n.20261-43G=)
c.20120-43G= (n.20120-43G=)
c.46163-43G= (n.46163-43G=)
c.41561-43G= (n.41561-43G=)
c.41558-43G= (n.41558-43G=)
c.38600-43G= (n.38600-43G=)
c.20216-43G= (n.20216-43G=)
c.41711-43G= (n.41711-43G=)
c.41708-43G= (n.41708-43G=)
c.41141-43G= (n.41141-43G=)
c.38483-43G= (n.38483-43G=)
c.38402-43G= (n.38402-43G=)
c.20165-43G= (n.20165-43G=)
c.10019-43G= (n.10019-43G=)
2g.178618124C>GCA2753333820TTN,TTN-AS1c.39566-43G>C (n.39566-43G>C)
c.20651-43G>C (n.20651-43G>C)
c.20450-43G>C (n.20450-43G>C)
c.20075-43G>C (n.20075-43G>C)
c.47270-43G>C (n.47270-43G>C)
c.42347-43G>C (n.42347-43G>C)
n.1605-1629C>G
c.46367-43G>C (n.46367-43G>C)
c.20261-43G>C (n.20261-43G>C)
c.20120-43G>C (n.20120-43G>C)
c.46163-43G>C (n.46163-43G>C)
c.41561-43G>C (n.41561-43G>C)
c.41558-43G>C (n.41558-43G>C)
c.38600-43G>C (n.38600-43G>C)
c.20216-43G>C (n.20216-43G>C)
c.41711-43G>C (n.41711-43G>C)
c.41708-43G>C (n.41708-43G>C)
c.41141-43G>C (n.41141-43G>C)
c.38483-43G>C (n.38483-43G>C)
c.38402-43G>C (n.38402-43G>C)
c.20165-43G>C (n.20165-43G>C)
c.10019-43G>C (n.10019-43G>C)
2g.178618124C>TCA1995083TTN,TTN-AS1c.39566-43G>A (n.39566-43G>A)
c.20651-43G>A (n.20651-43G>A)
c.20450-43G>A (n.20450-43G>A)
c.20075-43G>A (n.20075-43G>A)
c.47270-43G>A (n.47270-43G>A)
c.42347-43G>A (n.42347-43G>A)
n.1605-1629C>T
c.46367-43G>A (n.46367-43G>A)
c.20261-43G>A (n.20261-43G>A)
c.20120-43G>A (n.20120-43G>A)
c.46163-43G>A (n.46163-43G>A)
c.41561-43G>A (n.41561-43G>A)
c.41558-43G>A (n.41558-43G>A)
c.38600-43G>A (n.38600-43G>A)
c.20216-43G>A (n.20216-43G>A)
c.41711-43G>A (n.41711-43G>A)
c.41708-43G>A (n.41708-43G>A)
c.41141-43G>A (n.41141-43G>A)
c.38483-43G>A (n.38483-43G>A)
c.38402-43G>A (n.38402-43G>A)
c.20165-43G>A (n.20165-43G>A)
c.10019-43G>A (n.10019-43G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618124_178618127delinsCGATCA1310550920TTN,TTN-AS1c.39566-46_39566-43delinsATCG (n.39566-46_39566-43delinsATCG)
c.20651-46_20651-43delinsATCG (n.20651-46_20651-43delinsATCG)
c.20450-46_20450-43delinsATCG (n.20450-46_20450-43delinsATCG)
c.20075-46_20075-43delinsATCG (n.20075-46_20075-43delinsATCG)
c.47270-46_47270-43delinsATCG (n.47270-46_47270-43delinsATCG)
c.42347-46_42347-43delinsATCG (n.42347-46_42347-43delinsATCG)
n.1605-1629_1605-1626delinsCGAT
c.46367-46_46367-43delinsATCG (n.46367-46_46367-43delinsATCG)
c.20261-46_20261-43delinsATCG (n.20261-46_20261-43delinsATCG)
c.20120-46_20120-43delinsATCG (n.20120-46_20120-43delinsATCG)
c.46163-46_46163-43delinsATCG (n.46163-46_46163-43delinsATCG)
c.41561-46_41561-43delinsATCG (n.41561-46_41561-43delinsATCG)
c.41558-46_41558-43delinsATCG (n.41558-46_41558-43delinsATCG)
c.38600-46_38600-43delinsATCG (n.38600-46_38600-43delinsATCG)
c.20216-46_20216-43delinsATCG (n.20216-46_20216-43delinsATCG)
c.41711-46_41711-43delinsATCG (n.41711-46_41711-43delinsATCG)
c.41708-46_41708-43delinsATCG (n.41708-46_41708-43delinsATCG)
c.41141-46_41141-43delinsATCG (n.41141-46_41141-43delinsATCG)
c.38483-46_38483-43delinsATCG (n.38483-46_38483-43delinsATCG)
c.38402-46_38402-43delinsATCG (n.38402-46_38402-43delinsATCG)
c.20165-46_20165-43delinsATCG (n.20165-46_20165-43delinsATCG)
c.10019-46_10019-43delinsATCG (n.10019-46_10019-43delinsATCG)
2g.178618125G>ACA1995084TTN,TTN-AS1c.39566-44C>T (n.39566-44C>T)
c.20651-44C>T (n.20651-44C>T)
c.20450-44C>T (n.20450-44C>T)
c.20075-44C>T (n.20075-44C>T)
c.47270-44C>T (n.47270-44C>T)
c.42347-44C>T (n.42347-44C>T)
n.1605-1628G>A
c.46367-44C>T (n.46367-44C>T)
c.20261-44C>T (n.20261-44C>T)
c.20120-44C>T (n.20120-44C>T)
c.46163-44C>T (n.46163-44C>T)
c.41561-44C>T (n.41561-44C>T)
c.41558-44C>T (n.41558-44C>T)
c.38600-44C>T (n.38600-44C>T)
c.20216-44C>T (n.20216-44C>T)
c.41711-44C>T (n.41711-44C>T)
c.41708-44C>T (n.41708-44C>T)
c.41141-44C>T (n.41141-44C>T)
c.38483-44C>T (n.38483-44C>T)
c.38402-44C>T (n.38402-44C>T)
c.20165-44C>T (n.20165-44C>T)
c.10019-44C>T (n.10019-44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178618125G=CA1310550922TTN,TTN-AS1c.39566-44C= (n.39566-44C=)
c.20651-44C= (n.20651-44C=)
c.20450-44C= (n.20450-44C=)
c.20075-44C= (n.20075-44C=)
c.47270-44C= (n.47270-44C=)
c.42347-44C= (n.42347-44C=)
n.1605-1628G=
c.46367-44C= (n.46367-44C=)
c.20261-44C= (n.20261-44C=)
c.20120-44C= (n.20120-44C=)
c.46163-44C= (n.46163-44C=)
c.41561-44C= (n.41561-44C=)
c.41558-44C= (n.41558-44C=)
c.38600-44C= (n.38600-44C=)
c.20216-44C= (n.20216-44C=)
c.41711-44C= (n.41711-44C=)
c.41708-44C= (n.41708-44C=)
c.41141-44C= (n.41141-44C=)
c.38483-44C= (n.38483-44C=)
c.38402-44C= (n.38402-44C=)
c.20165-44C= (n.20165-44C=)
c.10019-44C= (n.10019-44C=)
2g.178618130_178618132delCA1310550921TTN,TTN-AS1c.39566-46_39566-44del (n.39566-46_39566-44del)
c.20651-46_20651-44del (n.20651-46_20651-44del)
c.20450-46_20450-44del (n.20450-46_20450-44del)
c.20075-46_20075-44del (n.20075-46_20075-44del)
c.47270-46_47270-44del (n.47270-46_47270-44del)
c.42347-46_42347-44del (n.42347-46_42347-44del)
n.1605-1623_1605-1621del
c.46367-46_46367-44del (n.46367-46_46367-44del)
c.20261-46_20261-44del (n.20261-46_20261-44del)
c.20120-46_20120-44del (n.20120-46_20120-44del)
c.46163-46_46163-44del (n.46163-46_46163-44del)
c.41561-46_41561-44del (n.41561-46_41561-44del)
c.41558-46_41558-44del (n.41558-46_41558-44del)
c.38600-46_38600-44del (n.38600-46_38600-44del)
c.20216-46_20216-44del (n.20216-46_20216-44del)
c.41711-46_41711-44del (n.41711-46_41711-44del)
c.41708-46_41708-44del (n.41708-46_41708-44del)
c.41141-46_41141-44del (n.41141-46_41141-44del)
c.38483-46_38483-44del (n.38483-46_38483-44del)
c.38402-46_38402-44del (n.38402-46_38402-44del)
c.20165-46_20165-44del (n.20165-46_20165-44del)
c.10019-46_10019-44del (n.10019-46_10019-44del)
 dbSNP

Number of alleles fetched