Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178591841T>ACA349488120TTN,TTN-AS1c.52274A>T (p.Glu17425Val)
c.33359A>T (p.Glu11120Val)
c.33158A>T (p.Glu11053Val)
c.32783A>T (p.Glu10928Val)
c.59978A>T (p.Glu19993Val)
c.55055A>T (p.Glu18352Val)
n.597-5755T>A
n.3364+527T>A
c.59075A>T (p.Glu19692Val)
c.32969A>T (p.Glu10990Val)
c.32828A>T (p.Glu10943Val)
c.58871A>T (p.Glu19624Val)
c.54269A>T (p.Glu18090Val)
c.54266A>T (p.Glu18089Val)
c.51308A>T (p.Glu17103Val)
c.32924A>T (p.Glu10975Val)
c.54419A>T (p.Glu18140Val)
c.54416A>T (p.Glu18139Val)
c.53849A>T (p.Glu17950Val)
c.51191A>T (p.Glu17064Val)
c.51110A>T (p.Glu17037Val)
c.32873A>T (p.Glu10958Val)
c.22727A>T (p.Glu7576Val)
2g.178591841T>CCA349488132TTN,TTN-AS1c.52274A>G (p.Glu17425Gly)
c.33359A>G (p.Glu11120Gly)
c.33158A>G (p.Glu11053Gly)
c.32783A>G (p.Glu10928Gly)
c.59978A>G (p.Glu19993Gly)
c.55055A>G (p.Glu18352Gly)
n.597-5755T>C
n.3364+527T>C
c.59075A>G (p.Glu19692Gly)
c.32969A>G (p.Glu10990Gly)
c.32828A>G (p.Glu10943Gly)
c.58871A>G (p.Glu19624Gly)
c.54269A>G (p.Glu18090Gly)
c.54266A>G (p.Glu18089Gly)
c.51308A>G (p.Glu17103Gly)
c.32924A>G (p.Glu10975Gly)
c.54419A>G (p.Glu18140Gly)
c.54416A>G (p.Glu18139Gly)
c.53849A>G (p.Glu17950Gly)
c.51191A>G (p.Glu17064Gly)
c.51110A>G (p.Glu17037Gly)
c.32873A>G (p.Glu10958Gly)
c.22727A>G (p.Glu7576Gly)
2g.178591841T>GCA349488135TTN,TTN-AS1c.52274A>C (p.Glu17425Ala)
c.33359A>C (p.Glu11120Ala)
c.33158A>C (p.Glu11053Ala)
c.32783A>C (p.Glu10928Ala)
c.59978A>C (p.Glu19993Ala)
c.55055A>C (p.Glu18352Ala)
n.597-5755T>G
n.3364+527T>G
c.59075A>C (p.Glu19692Ala)
c.32969A>C (p.Glu10990Ala)
c.32828A>C (p.Glu10943Ala)
c.58871A>C (p.Glu19624Ala)
c.54269A>C (p.Glu18090Ala)
c.54266A>C (p.Glu18089Ala)
c.51308A>C (p.Glu17103Ala)
c.32924A>C (p.Glu10975Ala)
c.54419A>C (p.Glu18140Ala)
c.54416A>C (p.Glu18139Ala)
c.53849A>C (p.Glu17950Ala)
c.51191A>C (p.Glu17064Ala)
c.51110A>C (p.Glu17037Ala)
c.32873A>C (p.Glu10958Ala)
c.22727A>C (p.Glu7576Ala)
2g.178591842C>ACA349488139TTN,TTN-AS1c.52273G>T (p.Glu17425Ter)
c.33358G>T (p.Glu11120Ter)
c.33157G>T (p.Glu11053Ter)
c.32782G>T (p.Glu10928Ter)
c.59977G>T (p.Glu19993Ter)
c.55054G>T (p.Glu18352Ter)
n.597-5754C>A
n.3364+528C>A
c.59074G>T (p.Glu19692Ter)
c.32968G>T (p.Glu10990Ter)
c.32827G>T (p.Glu10943Ter)
c.58870G>T (p.Glu19624Ter)
c.54268G>T (p.Glu18090Ter)
c.54265G>T (p.Glu18089Ter)
c.51307G>T (p.Glu17103Ter)
c.32923G>T (p.Glu10975Ter)
c.54418G>T (p.Glu18140Ter)
c.54415G>T (p.Glu18139Ter)
c.53848G>T (p.Glu17950Ter)
c.51190G>T (p.Glu17064Ter)
c.51109G>T (p.Glu17037Ter)
c.32872G>T (p.Glu10958Ter)
c.22726G>T (p.Glu7576Ter)
 ClinVar dbSNP
2g.178591842C=CA1310540413TTN,TTN-AS1c.52273G= (p.Glu17425=)
c.33358G= (p.Glu11120=)
c.33157G= (p.Glu11053=)
c.32782G= (p.Glu10928=)
c.59977G= (p.Glu19993=)
c.55054G= (p.Glu18352=)
n.597-5754C=
n.3364+528C=
c.59074G= (p.Glu19692=)
c.32968G= (p.Glu10990=)
c.32827G= (p.Glu10943=)
c.58870G= (p.Glu19624=)
c.54268G= (p.Glu18090=)
c.54265G= (p.Glu18089=)
c.51307G= (p.Glu17103=)
c.32923G= (p.Glu10975=)
c.54418G= (p.Glu18140=)
c.54415G= (p.Glu18139=)
c.53848G= (p.Glu17950=)
c.51190G= (p.Glu17064=)
c.51109G= (p.Glu17037=)
c.32872G= (p.Glu10958=)
c.22726G= (p.Glu7576=)
2g.178591842C>GCA349488141TTN,TTN-AS1c.52273G>C (p.Glu17425Gln)
c.33358G>C (p.Glu11120Gln)
c.33157G>C (p.Glu11053Gln)
c.32782G>C (p.Glu10928Gln)
c.59977G>C (p.Glu19993Gln)
c.55054G>C (p.Glu18352Gln)
n.597-5754C>G
n.3364+528C>G
c.59074G>C (p.Glu19692Gln)
c.32968G>C (p.Glu10990Gln)
c.32827G>C (p.Glu10943Gln)
c.58870G>C (p.Glu19624Gln)
c.54268G>C (p.Glu18090Gln)
c.54265G>C (p.Glu18089Gln)
c.51307G>C (p.Glu17103Gln)
c.32923G>C (p.Glu10975Gln)
c.54418G>C (p.Glu18140Gln)
c.54415G>C (p.Glu18139Gln)
c.53848G>C (p.Glu17950Gln)
c.51190G>C (p.Glu17064Gln)
c.51109G>C (p.Glu17037Gln)
c.32872G>C (p.Glu10958Gln)
c.22726G>C (p.Glu7576Gln)
 gnomAD v4
2g.178591842C>TCA349488144TTN,TTN-AS1c.52273G>A (p.Glu17425Lys)
c.33358G>A (p.Glu11120Lys)
c.33157G>A (p.Glu11053Lys)
c.32782G>A (p.Glu10928Lys)
c.59977G>A (p.Glu19993Lys)
c.55054G>A (p.Glu18352Lys)
n.597-5754C>T
n.3364+528C>T
c.59074G>A (p.Glu19692Lys)
c.32968G>A (p.Glu10990Lys)
c.32827G>A (p.Glu10943Lys)
c.58870G>A (p.Glu19624Lys)
c.54268G>A (p.Glu18090Lys)
c.54265G>A (p.Glu18089Lys)
c.51307G>A (p.Glu17103Lys)
c.32923G>A (p.Glu10975Lys)
c.54418G>A (p.Glu18140Lys)
c.54415G>A (p.Glu18139Lys)
c.53848G>A (p.Glu17950Lys)
c.51190G>A (p.Glu17064Lys)
c.51109G>A (p.Glu17037Lys)
c.32872G>A (p.Glu10958Lys)
c.22726G>A (p.Glu7576Lys)
2g.178591843A=CA1310540415TTN,TTN-AS1c.52272T= (p.Thr17424=)
c.33357T= (p.Thr11119=)
c.33156T= (p.Thr11052=)
c.32781T= (p.Thr10927=)
c.59976T= (p.Thr19992=)
c.55053T= (p.Thr18351=)
n.597-5753A=
n.3364+529A=
c.59073T= (p.Thr19691=)
c.32967T= (p.Thr10989=)
c.32826T= (p.Thr10942=)
c.58869T= (p.Thr19623=)
c.54267T= (p.Thr18089=)
c.54264T= (p.Thr18088=)
c.51306T= (p.Thr17102=)
c.32922T= (p.Thr10974=)
c.54417T= (p.Thr18139=)
c.54414T= (p.Thr18138=)
c.53847T= (p.Thr17949=)
c.51189T= (p.Thr17063=)
c.51108T= (p.Thr17036=)
c.32871T= (p.Thr10957=)
c.22725T= (p.Thr7575=)
2g.178591843A>CCA430267229TTN,TTN-AS1c.52272T>G (p.Thr17424=)
c.33357T>G (p.Thr11119=)
c.33156T>G (p.Thr11052=)
c.32781T>G (p.Thr10927=)
c.59976T>G (p.Thr19992=)
c.55053T>G (p.Thr18351=)
n.597-5753A>C
n.3364+529A>C
c.59073T>G (p.Thr19691=)
c.32967T>G (p.Thr10989=)
c.32826T>G (p.Thr10942=)
c.58869T>G (p.Thr19623=)
c.54267T>G (p.Thr18089=)
c.54264T>G (p.Thr18088=)
c.51306T>G (p.Thr17102=)
c.32922T>G (p.Thr10974=)
c.54417T>G (p.Thr18139=)
c.54414T>G (p.Thr18138=)
c.53847T>G (p.Thr17949=)
c.51189T>G (p.Thr17063=)
c.51108T>G (p.Thr17036=)
c.32871T>G (p.Thr10957=)
c.22725T>G (p.Thr7575=)
2g.178591843A>GCA1992567TTN,TTN-AS1c.52272T>C (p.Thr17424=)
c.33357T>C (p.Thr11119=)
c.33156T>C (p.Thr11052=)
c.32781T>C (p.Thr10927=)
c.59976T>C (p.Thr19992=)
c.55053T>C (p.Thr18351=)
n.597-5753A>G
n.3364+529A>G
c.59073T>C (p.Thr19691=)
c.32967T>C (p.Thr10989=)
c.32826T>C (p.Thr10942=)
c.58869T>C (p.Thr19623=)
c.54267T>C (p.Thr18089=)
c.54264T>C (p.Thr18088=)
c.51306T>C (p.Thr17102=)
c.32922T>C (p.Thr10974=)
c.54417T>C (p.Thr18139=)
c.54414T>C (p.Thr18138=)
c.53847T>C (p.Thr17949=)
c.51189T>C (p.Thr17063=)
c.51108T>C (p.Thr17036=)
c.32871T>C (p.Thr10957=)
c.22725T>C (p.Thr7575=)
 dbSNP ExAC gnomAD v2
2g.178591843A>TCA430267232TTN,TTN-AS1c.52272T>A (p.Thr17424=)
c.33357T>A (p.Thr11119=)
c.33156T>A (p.Thr11052=)
c.32781T>A (p.Thr10927=)
c.59976T>A (p.Thr19992=)
c.55053T>A (p.Thr18351=)
n.597-5753A>T
n.3364+529A>T
c.59073T>A (p.Thr19691=)
c.32967T>A (p.Thr10989=)
c.32826T>A (p.Thr10942=)
c.58869T>A (p.Thr19623=)
c.54267T>A (p.Thr18089=)
c.54264T>A (p.Thr18088=)
c.51306T>A (p.Thr17102=)
c.32922T>A (p.Thr10974=)
c.54417T>A (p.Thr18139=)
c.54414T>A (p.Thr18138=)
c.53847T>A (p.Thr17949=)
c.51189T>A (p.Thr17063=)
c.51108T>A (p.Thr17036=)
c.32871T>A (p.Thr10957=)
c.22725T>A (p.Thr7575=)
2g.178591844G>ACA349488148TTN,TTN-AS1c.52271C>T (p.Thr17424Ile)
c.33356C>T (p.Thr11119Ile)
c.33155C>T (p.Thr11052Ile)
c.32780C>T (p.Thr10927Ile)
c.59975C>T (p.Thr19992Ile)
c.55052C>T (p.Thr18351Ile)
n.597-5752G>A
n.3364+530G>A
c.59072C>T (p.Thr19691Ile)
c.32966C>T (p.Thr10989Ile)
c.32825C>T (p.Thr10942Ile)
c.58868C>T (p.Thr19623Ile)
c.54266C>T (p.Thr18089Ile)
c.54263C>T (p.Thr18088Ile)
c.51305C>T (p.Thr17102Ile)
c.32921C>T (p.Thr10974Ile)
c.54416C>T (p.Thr18139Ile)
c.54413C>T (p.Thr18138Ile)
c.53846C>T (p.Thr17949Ile)
c.51188C>T (p.Thr17063Ile)
c.51107C>T (p.Thr17036Ile)
c.32870C>T (p.Thr10957Ile)
c.22724C>T (p.Thr7575Ile)
2g.178591844G>CCA349488153TTN,TTN-AS1c.52271C>G (p.Thr17424Ser)
c.33356C>G (p.Thr11119Ser)
c.33155C>G (p.Thr11052Ser)
c.32780C>G (p.Thr10927Ser)
c.59975C>G (p.Thr19992Ser)
c.55052C>G (p.Thr18351Ser)
n.597-5752G>C
n.3364+530G>C
c.59072C>G (p.Thr19691Ser)
c.32966C>G (p.Thr10989Ser)
c.32825C>G (p.Thr10942Ser)
c.58868C>G (p.Thr19623Ser)
c.54266C>G (p.Thr18089Ser)
c.54263C>G (p.Thr18088Ser)
c.51305C>G (p.Thr17102Ser)
c.32921C>G (p.Thr10974Ser)
c.54416C>G (p.Thr18139Ser)
c.54413C>G (p.Thr18138Ser)
c.53846C>G (p.Thr17949Ser)
c.51188C>G (p.Thr17063Ser)
c.51107C>G (p.Thr17036Ser)
c.32870C>G (p.Thr10957Ser)
c.22724C>G (p.Thr7575Ser)
2g.178591844G>TCA349488155TTN,TTN-AS1c.52271C>A (p.Thr17424Asn)
c.33356C>A (p.Thr11119Asn)
c.33155C>A (p.Thr11052Asn)
c.32780C>A (p.Thr10927Asn)
c.59975C>A (p.Thr19992Asn)
c.55052C>A (p.Thr18351Asn)
n.597-5752G>T
n.3364+530G>T
c.59072C>A (p.Thr19691Asn)
c.32966C>A (p.Thr10989Asn)
c.32825C>A (p.Thr10942Asn)
c.58868C>A (p.Thr19623Asn)
c.54266C>A (p.Thr18089Asn)
c.54263C>A (p.Thr18088Asn)
c.51305C>A (p.Thr17102Asn)
c.32921C>A (p.Thr10974Asn)
c.54416C>A (p.Thr18139Asn)
c.54413C>A (p.Thr18138Asn)
c.53846C>A (p.Thr17949Asn)
c.51188C>A (p.Thr17063Asn)
c.51107C>A (p.Thr17036Asn)
c.32870C>A (p.Thr10957Asn)
c.22724C>A (p.Thr7575Asn)
2g.178591845T>ACA349488170TTN,TTN-AS1c.52270A>T (p.Thr17424Ser)
c.33355A>T (p.Thr11119Ser)
c.33154A>T (p.Thr11052Ser)
c.32779A>T (p.Thr10927Ser)
c.59974A>T (p.Thr19992Ser)
c.55051A>T (p.Thr18351Ser)
n.597-5751T>A
n.3364+531T>A
c.59071A>T (p.Thr19691Ser)
c.32965A>T (p.Thr10989Ser)
c.32824A>T (p.Thr10942Ser)
c.58867A>T (p.Thr19623Ser)
c.54265A>T (p.Thr18089Ser)
c.54262A>T (p.Thr18088Ser)
c.51304A>T (p.Thr17102Ser)
c.32920A>T (p.Thr10974Ser)
c.54415A>T (p.Thr18139Ser)
c.54412A>T (p.Thr18138Ser)
c.53845A>T (p.Thr17949Ser)
c.51187A>T (p.Thr17063Ser)
c.51106A>T (p.Thr17036Ser)
c.32869A>T (p.Thr10957Ser)
c.22723A>T (p.Thr7575Ser)
2g.178591845T>CCA349488167TTN,TTN-AS1c.52270A>G (p.Thr17424Ala)
c.33355A>G (p.Thr11119Ala)
c.33154A>G (p.Thr11052Ala)
c.32779A>G (p.Thr10927Ala)
c.59974A>G (p.Thr19992Ala)
c.55051A>G (p.Thr18351Ala)
n.597-5751T>C
n.3364+531T>C
c.59071A>G (p.Thr19691Ala)
c.32965A>G (p.Thr10989Ala)
c.32824A>G (p.Thr10942Ala)
c.58867A>G (p.Thr19623Ala)
c.54265A>G (p.Thr18089Ala)
c.54262A>G (p.Thr18088Ala)
c.51304A>G (p.Thr17102Ala)
c.32920A>G (p.Thr10974Ala)
c.54415A>G (p.Thr18139Ala)
c.54412A>G (p.Thr18138Ala)
c.53845A>G (p.Thr17949Ala)
c.51187A>G (p.Thr17063Ala)
c.51106A>G (p.Thr17036Ala)
c.32869A>G (p.Thr10957Ala)
c.22723A>G (p.Thr7575Ala)
 gnomAD v4
2g.178591845T>GCA349488160TTN,TTN-AS1c.52270A>C (p.Thr17424Pro)
c.33355A>C (p.Thr11119Pro)
c.33154A>C (p.Thr11052Pro)
c.32779A>C (p.Thr10927Pro)
c.59974A>C (p.Thr19992Pro)
c.55051A>C (p.Thr18351Pro)
n.597-5751T>G
n.3364+531T>G
c.59071A>C (p.Thr19691Pro)
c.32965A>C (p.Thr10989Pro)
c.32824A>C (p.Thr10942Pro)
c.58867A>C (p.Thr19623Pro)
c.54265A>C (p.Thr18089Pro)
c.54262A>C (p.Thr18088Pro)
c.51304A>C (p.Thr17102Pro)
c.32920A>C (p.Thr10974Pro)
c.54415A>C (p.Thr18139Pro)
c.54412A>C (p.Thr18138Pro)
c.53845A>C (p.Thr17949Pro)
c.51187A>C (p.Thr17063Pro)
c.51106A>C (p.Thr17036Pro)
c.32869A>C (p.Thr10957Pro)
c.22723A>C (p.Thr7575Pro)
2g.178591846C>ACA349488174TTN,TTN-AS1c.52269G>T (p.Lys17423Asn)
c.33354G>T (p.Lys11118Asn)
c.33153G>T (p.Lys11051Asn)
c.32778G>T (p.Lys10926Asn)
c.59973G>T (p.Lys19991Asn)
c.55050G>T (p.Lys18350Asn)
n.597-5750C>A
n.3364+532C>A
c.59070G>T (p.Lys19690Asn)
c.32964G>T (p.Lys10988Asn)
c.32823G>T (p.Lys10941Asn)
c.58866G>T (p.Lys19622Asn)
c.54264G>T (p.Lys18088Asn)
c.54261G>T (p.Lys18087Asn)
c.51303G>T (p.Lys17101Asn)
c.32919G>T (p.Lys10973Asn)
c.54414G>T (p.Lys18138Asn)
c.54411G>T (p.Lys18137Asn)
c.53844G>T (p.Lys17948Asn)
c.51186G>T (p.Lys17062Asn)
c.51105G>T (p.Lys17035Asn)
c.32868G>T (p.Lys10956Asn)
c.22722G>T (p.Lys7574Asn)
2g.178591846C>GCA349488175TTN,TTN-AS1c.52269G>C (p.Lys17423Asn)
c.33354G>C (p.Lys11118Asn)
c.33153G>C (p.Lys11051Asn)
c.32778G>C (p.Lys10926Asn)
c.59973G>C (p.Lys19991Asn)
c.55050G>C (p.Lys18350Asn)
n.597-5750C>G
n.3364+532C>G
c.59070G>C (p.Lys19690Asn)
c.32964G>C (p.Lys10988Asn)
c.32823G>C (p.Lys10941Asn)
c.58866G>C (p.Lys19622Asn)
c.54264G>C (p.Lys18088Asn)
c.54261G>C (p.Lys18087Asn)
c.51303G>C (p.Lys17101Asn)
c.32919G>C (p.Lys10973Asn)
c.54414G>C (p.Lys18138Asn)
c.54411G>C (p.Lys18137Asn)
c.53844G>C (p.Lys17948Asn)
c.51186G>C (p.Lys17062Asn)
c.51105G>C (p.Lys17035Asn)
c.32868G>C (p.Lys10956Asn)
c.22722G>C (p.Lys7574Asn)
2g.178591846C>TCA430267241TTN,TTN-AS1c.52269G>A (p.Lys17423=)
c.33354G>A (p.Lys11118=)
c.33153G>A (p.Lys11051=)
c.32778G>A (p.Lys10926=)
c.59973G>A (p.Lys19991=)
c.55050G>A (p.Lys18350=)
n.597-5750C>T
n.3364+532C>T
c.59070G>A (p.Lys19690=)
c.32964G>A (p.Lys10988=)
c.32823G>A (p.Lys10941=)
c.58866G>A (p.Lys19622=)
c.54264G>A (p.Lys18088=)
c.54261G>A (p.Lys18087=)
c.51303G>A (p.Lys17101=)
c.32919G>A (p.Lys10973=)
c.54414G>A (p.Lys18138=)
c.54411G>A (p.Lys18137=)
c.53844G>A (p.Lys17948=)
c.51186G>A (p.Lys17062=)
c.51105G>A (p.Lys17035=)
c.32868G>A (p.Lys10956=)
c.22722G>A (p.Lys7574=)
2g.178591847T>ACA349488178TTN,TTN-AS1c.52268A>T (p.Lys17423Met)
c.33353A>T (p.Lys11118Met)
c.33152A>T (p.Lys11051Met)
c.32777A>T (p.Lys10926Met)
c.59972A>T (p.Lys19991Met)
c.55049A>T (p.Lys18350Met)
n.597-5749T>A
n.3364+533T>A
c.59069A>T (p.Lys19690Met)
c.32963A>T (p.Lys10988Met)
c.32822A>T (p.Lys10941Met)
c.58865A>T (p.Lys19622Met)
c.54263A>T (p.Lys18088Met)
c.54260A>T (p.Lys18087Met)
c.51302A>T (p.Lys17101Met)
c.32918A>T (p.Lys10973Met)
c.54413A>T (p.Lys18138Met)
c.54410A>T (p.Lys18137Met)
c.53843A>T (p.Lys17948Met)
c.51185A>T (p.Lys17062Met)
c.51104A>T (p.Lys17035Met)
c.32867A>T (p.Lys10956Met)
c.22721A>T (p.Lys7574Met)
2g.178591847T>CCA349488183TTN,TTN-AS1c.52268A>G (p.Lys17423Arg)
c.33353A>G (p.Lys11118Arg)
c.33152A>G (p.Lys11051Arg)
c.32777A>G (p.Lys10926Arg)
c.59972A>G (p.Lys19991Arg)
c.55049A>G (p.Lys18350Arg)
n.597-5749T>C
n.3364+533T>C
c.59069A>G (p.Lys19690Arg)
c.32963A>G (p.Lys10988Arg)
c.32822A>G (p.Lys10941Arg)
c.58865A>G (p.Lys19622Arg)
c.54263A>G (p.Lys18088Arg)
c.54260A>G (p.Lys18087Arg)
c.51302A>G (p.Lys17101Arg)
c.32918A>G (p.Lys10973Arg)
c.54413A>G (p.Lys18138Arg)
c.54410A>G (p.Lys18137Arg)
c.53843A>G (p.Lys17948Arg)
c.51185A>G (p.Lys17062Arg)
c.51104A>G (p.Lys17035Arg)
c.32867A>G (p.Lys10956Arg)
c.22721A>G (p.Lys7574Arg)
2g.178591847T>GCA349488185TTN,TTN-AS1c.52268A>C (p.Lys17423Thr)
c.33353A>C (p.Lys11118Thr)
c.33152A>C (p.Lys11051Thr)
c.32777A>C (p.Lys10926Thr)
c.59972A>C (p.Lys19991Thr)
c.55049A>C (p.Lys18350Thr)
n.597-5749T>G
n.3364+533T>G
c.59069A>C (p.Lys19690Thr)
c.32963A>C (p.Lys10988Thr)
c.32822A>C (p.Lys10941Thr)
c.58865A>C (p.Lys19622Thr)
c.54263A>C (p.Lys18088Thr)
c.54260A>C (p.Lys18087Thr)
c.51302A>C (p.Lys17101Thr)
c.32918A>C (p.Lys10973Thr)
c.54413A>C (p.Lys18138Thr)
c.54410A>C (p.Lys18137Thr)
c.53843A>C (p.Lys17948Thr)
c.51185A>C (p.Lys17062Thr)
c.51104A>C (p.Lys17035Thr)
c.32867A>C (p.Lys10956Thr)
c.22721A>C (p.Lys7574Thr)
2g.178591848T>ACA349488188TTN,TTN-AS1c.52267A>T (p.Lys17423Ter)
c.33352A>T (p.Lys11118Ter)
c.33151A>T (p.Lys11051Ter)
c.32776A>T (p.Lys10926Ter)
c.59971A>T (p.Lys19991Ter)
c.55048A>T (p.Lys18350Ter)
n.597-5748T>A
n.3364+534T>A
c.59068A>T (p.Lys19690Ter)
c.32962A>T (p.Lys10988Ter)
c.32821A>T (p.Lys10941Ter)
c.58864A>T (p.Lys19622Ter)
c.54262A>T (p.Lys18088Ter)
c.54259A>T (p.Lys18087Ter)
c.51301A>T (p.Lys17101Ter)
c.32917A>T (p.Lys10973Ter)
c.54412A>T (p.Lys18138Ter)
c.54409A>T (p.Lys18137Ter)
c.53842A>T (p.Lys17948Ter)
c.51184A>T (p.Lys17062Ter)
c.51103A>T (p.Lys17035Ter)
c.32866A>T (p.Lys10956Ter)
c.22720A>T (p.Lys7574Ter)
2g.178591848T>CCA349488202TTN,TTN-AS1c.52267A>G (p.Lys17423Glu)
c.33352A>G (p.Lys11118Glu)
c.33151A>G (p.Lys11051Glu)
c.32776A>G (p.Lys10926Glu)
c.59971A>G (p.Lys19991Glu)
c.55048A>G (p.Lys18350Glu)
n.597-5748T>C
n.3364+534T>C
c.59068A>G (p.Lys19690Glu)
c.32962A>G (p.Lys10988Glu)
c.32821A>G (p.Lys10941Glu)
c.58864A>G (p.Lys19622Glu)
c.54262A>G (p.Lys18088Glu)
c.54259A>G (p.Lys18087Glu)
c.51301A>G (p.Lys17101Glu)
c.32917A>G (p.Lys10973Glu)
c.54412A>G (p.Lys18138Glu)
c.54409A>G (p.Lys18137Glu)
c.53842A>G (p.Lys17948Glu)
c.51184A>G (p.Lys17062Glu)
c.51103A>G (p.Lys17035Glu)
c.32866A>G (p.Lys10956Glu)
c.22720A>G (p.Lys7574Glu)
 ClinVar dbSNP
2g.178591848T>GCA349488204TTN,TTN-AS1c.52267A>C (p.Lys17423Gln)
c.33352A>C (p.Lys11118Gln)
c.33151A>C (p.Lys11051Gln)
c.32776A>C (p.Lys10926Gln)
c.59971A>C (p.Lys19991Gln)
c.55048A>C (p.Lys18350Gln)
n.597-5748T>G
n.3364+534T>G
c.59068A>C (p.Lys19690Gln)
c.32962A>C (p.Lys10988Gln)
c.32821A>C (p.Lys10941Gln)
c.58864A>C (p.Lys19622Gln)
c.54262A>C (p.Lys18088Gln)
c.54259A>C (p.Lys18087Gln)
c.51301A>C (p.Lys17101Gln)
c.32917A>C (p.Lys10973Gln)
c.54412A>C (p.Lys18138Gln)
c.54409A>C (p.Lys18137Gln)
c.53842A>C (p.Lys17948Gln)
c.51184A>C (p.Lys17062Gln)
c.51103A>C (p.Lys17035Gln)
c.32866A>C (p.Lys10956Gln)
c.22720A>C (p.Lys7574Gln)
 gnomAD v4
2g.178591848T=CA1310540417TTN,TTN-AS1c.52267A= (p.Lys17423=)
c.33352A= (p.Lys11118=)
c.33151A= (p.Lys11051=)
c.32776A= (p.Lys10926=)
c.59971A= (p.Lys19991=)
c.55048A= (p.Lys18350=)
n.597-5748T=
n.3364+534T=
c.59068A= (p.Lys19690=)
c.32962A= (p.Lys10988=)
c.32821A= (p.Lys10941=)
c.58864A= (p.Lys19622=)
c.54262A= (p.Lys18088=)
c.54259A= (p.Lys18087=)
c.51301A= (p.Lys17101=)
c.32917A= (p.Lys10973=)
c.54412A= (p.Lys18138=)
c.54409A= (p.Lys18137=)
c.53842A= (p.Lys17948=)
c.51184A= (p.Lys17062=)
c.51103A= (p.Lys17035=)
c.32866A= (p.Lys10956=)
c.22720A= (p.Lys7574=)
2g.178591849G>ACA430267247TTN,TTN-AS1c.52266C>T (p.Asp17422=)
c.33351C>T (p.Asp11117=)
c.33150C>T (p.Asp11050=)
c.32775C>T (p.Asp10925=)
c.59970C>T (p.Asp19990=)
c.55047C>T (p.Asp18349=)
n.597-5747G>A
n.3364+535G>A
c.59067C>T (p.Asp19689=)
c.32961C>T (p.Asp10987=)
c.32820C>T (p.Asp10940=)
c.58863C>T (p.Asp19621=)
c.54261C>T (p.Asp18087=)
c.54258C>T (p.Asp18086=)
c.51300C>T (p.Asp17100=)
c.32916C>T (p.Asp10972=)
c.54411C>T (p.Asp18137=)
c.54408C>T (p.Asp18136=)
c.53841C>T (p.Asp17947=)
c.51183C>T (p.Asp17061=)
c.51102C>T (p.Asp17034=)
c.32865C>T (p.Asp10955=)
c.22719C>T (p.Asp7573=)
2g.178591849G>CCA1992568TTN,TTN-AS1c.52266C>G (p.Asp17422Glu)
c.33351C>G (p.Asp11117Glu)
c.33150C>G (p.Asp11050Glu)
c.32775C>G (p.Asp10925Glu)
c.59970C>G (p.Asp19990Glu)
c.55047C>G (p.Asp18349Glu)
n.597-5747G>C
n.3364+535G>C
c.59067C>G (p.Asp19689Glu)
c.32961C>G (p.Asp10987Glu)
c.32820C>G (p.Asp10940Glu)
c.58863C>G (p.Asp19621Glu)
c.54261C>G (p.Asp18087Glu)
c.54258C>G (p.Asp18086Glu)
c.51300C>G (p.Asp17100Glu)
c.32916C>G (p.Asp10972Glu)
c.54411C>G (p.Asp18137Glu)
c.54408C>G (p.Asp18136Glu)
c.53841C>G (p.Asp17947Glu)
c.51183C>G (p.Asp17061Glu)
c.51102C>G (p.Asp17034Glu)
c.32865C>G (p.Asp10955Glu)
c.22719C>G (p.Asp7573Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178591849G=CA1310540419TTN,TTN-AS1c.52266C= (p.Asp17422=)
c.33351C= (p.Asp11117=)
c.33150C= (p.Asp11050=)
c.32775C= (p.Asp10925=)
c.59970C= (p.Asp19990=)
c.55047C= (p.Asp18349=)
n.597-5747G=
n.3364+535G=
c.59067C= (p.Asp19689=)
c.32961C= (p.Asp10987=)
c.32820C= (p.Asp10940=)
c.58863C= (p.Asp19621=)
c.54261C= (p.Asp18087=)
c.54258C= (p.Asp18086=)
c.51300C= (p.Asp17100=)
c.32916C= (p.Asp10972=)
c.54411C= (p.Asp18137=)
c.54408C= (p.Asp18136=)
c.53841C= (p.Asp17947=)
c.51183C= (p.Asp17061=)
c.51102C= (p.Asp17034=)
c.32865C= (p.Asp10955=)
c.22719C= (p.Asp7573=)
2g.178591849G>TCA349488218TTN,TTN-AS1c.52266C>A (p.Asp17422Glu)
c.33351C>A (p.Asp11117Glu)
c.33150C>A (p.Asp11050Glu)
c.32775C>A (p.Asp10925Glu)
c.59970C>A (p.Asp19990Glu)
c.55047C>A (p.Asp18349Glu)
n.597-5747G>T
n.3364+535G>T
c.59067C>A (p.Asp19689Glu)
c.32961C>A (p.Asp10987Glu)
c.32820C>A (p.Asp10940Glu)
c.58863C>A (p.Asp19621Glu)
c.54261C>A (p.Asp18087Glu)
c.54258C>A (p.Asp18086Glu)
c.51300C>A (p.Asp17100Glu)
c.32916C>A (p.Asp10972Glu)
c.54411C>A (p.Asp18137Glu)
c.54408C>A (p.Asp18136Glu)
c.53841C>A (p.Asp17947Glu)
c.51183C>A (p.Asp17061Glu)
c.51102C>A (p.Asp17034Glu)
c.32865C>A (p.Asp10955Glu)
c.22719C>A (p.Asp7573Glu)
 dbSNP gnomAD v2
2g.178591850T>ACA349488222TTN,TTN-AS1c.52265A>T (p.Asp17422Val)
c.33350A>T (p.Asp11117Val)
c.33149A>T (p.Asp11050Val)
c.32774A>T (p.Asp10925Val)
c.59969A>T (p.Asp19990Val)
c.55046A>T (p.Asp18349Val)
n.597-5746T>A
n.3364+536T>A
c.59066A>T (p.Asp19689Val)
c.32960A>T (p.Asp10987Val)
c.32819A>T (p.Asp10940Val)
c.58862A>T (p.Asp19621Val)
c.54260A>T (p.Asp18087Val)
c.54257A>T (p.Asp18086Val)
c.51299A>T (p.Asp17100Val)
c.32915A>T (p.Asp10972Val)
c.54410A>T (p.Asp18137Val)
c.54407A>T (p.Asp18136Val)
c.53840A>T (p.Asp17947Val)
c.51182A>T (p.Asp17061Val)
c.51101A>T (p.Asp17034Val)
c.32864A>T (p.Asp10955Val)
c.22718A>T (p.Asp7573Val)
2g.178591850T>CCA349488224TTN,TTN-AS1c.52265A>G (p.Asp17422Gly)
c.33350A>G (p.Asp11117Gly)
c.33149A>G (p.Asp11050Gly)
c.32774A>G (p.Asp10925Gly)
c.59969A>G (p.Asp19990Gly)
c.55046A>G (p.Asp18349Gly)
n.597-5746T>C
n.3364+536T>C
c.59066A>G (p.Asp19689Gly)
c.32960A>G (p.Asp10987Gly)
c.32819A>G (p.Asp10940Gly)
c.58862A>G (p.Asp19621Gly)
c.54260A>G (p.Asp18087Gly)
c.54257A>G (p.Asp18086Gly)
c.51299A>G (p.Asp17100Gly)
c.32915A>G (p.Asp10972Gly)
c.54410A>G (p.Asp18137Gly)
c.54407A>G (p.Asp18136Gly)
c.53840A>G (p.Asp17947Gly)
c.51182A>G (p.Asp17061Gly)
c.51101A>G (p.Asp17034Gly)
c.32864A>G (p.Asp10955Gly)
c.22718A>G (p.Asp7573Gly)
2g.178591850T>GCA349488226TTN,TTN-AS1c.52265A>C (p.Asp17422Ala)
c.33350A>C (p.Asp11117Ala)
c.33149A>C (p.Asp11050Ala)
c.32774A>C (p.Asp10925Ala)
c.59969A>C (p.Asp19990Ala)
c.55046A>C (p.Asp18349Ala)
n.597-5746T>G
n.3364+536T>G
c.59066A>C (p.Asp19689Ala)
c.32960A>C (p.Asp10987Ala)
c.32819A>C (p.Asp10940Ala)
c.58862A>C (p.Asp19621Ala)
c.54260A>C (p.Asp18087Ala)
c.54257A>C (p.Asp18086Ala)
c.51299A>C (p.Asp17100Ala)
c.32915A>C (p.Asp10972Ala)
c.54410A>C (p.Asp18137Ala)
c.54407A>C (p.Asp18136Ala)
c.53840A>C (p.Asp17947Ala)
c.51182A>C (p.Asp17061Ala)
c.51101A>C (p.Asp17034Ala)
c.32864A>C (p.Asp10955Ala)
c.22718A>C (p.Asp7573Ala)
2g.178591851C>ACA349488239TTN,TTN-AS1c.52264G>T (p.Asp17422Tyr)
c.33349G>T (p.Asp11117Tyr)
c.33148G>T (p.Asp11050Tyr)
c.32773G>T (p.Asp10925Tyr)
c.59968G>T (p.Asp19990Tyr)
c.55045G>T (p.Asp18349Tyr)
n.597-5745C>A
n.3364+537C>A
c.59065G>T (p.Asp19689Tyr)
c.32959G>T (p.Asp10987Tyr)
c.32818G>T (p.Asp10940Tyr)
c.58861G>T (p.Asp19621Tyr)
c.54259G>T (p.Asp18087Tyr)
c.54256G>T (p.Asp18086Tyr)
c.51298G>T (p.Asp17100Tyr)
c.32914G>T (p.Asp10972Tyr)
c.54409G>T (p.Asp18137Tyr)
c.54406G>T (p.Asp18136Tyr)
c.53839G>T (p.Asp17947Tyr)
c.51181G>T (p.Asp17061Tyr)
c.51100G>T (p.Asp17034Tyr)
c.32863G>T (p.Asp10955Tyr)
c.22717G>T (p.Asp7573Tyr)
2g.178591851C>GCA349488234TTN,TTN-AS1c.52264G>C (p.Asp17422His)
c.33349G>C (p.Asp11117His)
c.33148G>C (p.Asp11050His)
c.32773G>C (p.Asp10925His)
c.59968G>C (p.Asp19990His)
c.55045G>C (p.Asp18349His)
n.597-5745C>G
n.3364+537C>G
c.59065G>C (p.Asp19689His)
c.32959G>C (p.Asp10987His)
c.32818G>C (p.Asp10940His)
c.58861G>C (p.Asp19621His)
c.54259G>C (p.Asp18087His)
c.54256G>C (p.Asp18086His)
c.51298G>C (p.Asp17100His)
c.32914G>C (p.Asp10972His)
c.54409G>C (p.Asp18137His)
c.54406G>C (p.Asp18136His)
c.53839G>C (p.Asp17947His)
c.51181G>C (p.Asp17061His)
c.51100G>C (p.Asp17034His)
c.32863G>C (p.Asp10955His)
c.22717G>C (p.Asp7573His)
 gnomAD v4
2g.178591851C>TCA349488238TTN,TTN-AS1c.52264G>A (p.Asp17422Asn)
c.33349G>A (p.Asp11117Asn)
c.33148G>A (p.Asp11050Asn)
c.32773G>A (p.Asp10925Asn)
c.59968G>A (p.Asp19990Asn)
c.55045G>A (p.Asp18349Asn)
n.597-5745C>T
n.3364+537C>T
c.59065G>A (p.Asp19689Asn)
c.32959G>A (p.Asp10987Asn)
c.32818G>A (p.Asp10940Asn)
c.58861G>A (p.Asp19621Asn)
c.54259G>A (p.Asp18087Asn)
c.54256G>A (p.Asp18086Asn)
c.51298G>A (p.Asp17100Asn)
c.32914G>A (p.Asp10972Asn)
c.54409G>A (p.Asp18137Asn)
c.54406G>A (p.Asp18136Asn)
c.53839G>A (p.Asp17947Asn)
c.51181G>A (p.Asp17061Asn)
c.51100G>A (p.Asp17034Asn)
c.32863G>A (p.Asp10955Asn)
c.22717G>A (p.Asp7573Asn)
2g.178591852A=CA1310540420TTN,TTN-AS1c.52263T= (p.Val17421=)
c.33348T= (p.Val11116=)
c.33147T= (p.Val11049=)
c.32772T= (p.Val10924=)
c.59967T= (p.Val19989=)
c.55044T= (p.Val18348=)
n.597-5744A=
n.3364+538A=
c.59064T= (p.Val19688=)
c.32958T= (p.Val10986=)
c.32817T= (p.Val10939=)
c.58860T= (p.Val19620=)
c.54258T= (p.Val18086=)
c.54255T= (p.Val18085=)
c.51297T= (p.Val17099=)
c.32913T= (p.Val10971=)
c.54408T= (p.Val18136=)
c.54405T= (p.Val18135=)
c.53838T= (p.Val17946=)
c.51180T= (p.Val17060=)
c.51099T= (p.Val17033=)
c.32862T= (p.Val10954=)
c.22716T= (p.Val7572=)
2g.178591852A>CCA430267256TTN,TTN-AS1c.52263T>G (p.Val17421=)
c.33348T>G (p.Val11116=)
c.33147T>G (p.Val11049=)
c.32772T>G (p.Val10924=)
c.59967T>G (p.Val19989=)
c.55044T>G (p.Val18348=)
n.597-5744A>C
n.3364+538A>C
c.59064T>G (p.Val19688=)
c.32958T>G (p.Val10986=)
c.32817T>G (p.Val10939=)
c.58860T>G (p.Val19620=)
c.54258T>G (p.Val18086=)
c.54255T>G (p.Val18085=)
c.51297T>G (p.Val17099=)
c.32913T>G (p.Val10971=)
c.54408T>G (p.Val18136=)
c.54405T>G (p.Val18135=)
c.53838T>G (p.Val17946=)
c.51180T>G (p.Val17060=)
c.51099T>G (p.Val17033=)
c.32862T>G (p.Val10954=)
c.22716T>G (p.Val7572=)
 dbSNP
2g.178591852A>GCA430267257TTN,TTN-AS1c.52263T>C (p.Val17421=)
c.33348T>C (p.Val11116=)
c.33147T>C (p.Val11049=)
c.32772T>C (p.Val10924=)
c.59967T>C (p.Val19989=)
c.55044T>C (p.Val18348=)
n.597-5744A>G
n.3364+538A>G
c.59064T>C (p.Val19688=)
c.32958T>C (p.Val10986=)
c.32817T>C (p.Val10939=)
c.58860T>C (p.Val19620=)
c.54258T>C (p.Val18086=)
c.54255T>C (p.Val18085=)
c.51297T>C (p.Val17099=)
c.32913T>C (p.Val10971=)
c.54408T>C (p.Val18136=)
c.54405T>C (p.Val18135=)
c.53838T>C (p.Val17946=)
c.51180T>C (p.Val17060=)
c.51099T>C (p.Val17033=)
c.32862T>C (p.Val10954=)
c.22716T>C (p.Val7572=)
 gnomAD v4
2g.178591852A>TCA430267258TTN,TTN-AS1c.52263T>A (p.Val17421=)
c.33348T>A (p.Val11116=)
c.33147T>A (p.Val11049=)
c.32772T>A (p.Val10924=)
c.59967T>A (p.Val19989=)
c.55044T>A (p.Val18348=)
n.597-5744A>T
n.3364+538A>T
c.59064T>A (p.Val19688=)
c.32958T>A (p.Val10986=)
c.32817T>A (p.Val10939=)
c.58860T>A (p.Val19620=)
c.54258T>A (p.Val18086=)
c.54255T>A (p.Val18085=)
c.51297T>A (p.Val17099=)
c.32913T>A (p.Val10971=)
c.54408T>A (p.Val18136=)
c.54405T>A (p.Val18135=)
c.53838T>A (p.Val17946=)
c.51180T>A (p.Val17060=)
c.51099T>A (p.Val17033=)
c.32862T>A (p.Val10954=)
c.22716T>A (p.Val7572=)
2g.178591853A=CA1310540422TTN,TTN-AS1c.52262T= (p.Val17421=)
c.33347T= (p.Val11116=)
c.33146T= (p.Val11049=)
c.32771T= (p.Val10924=)
c.59966T= (p.Val19989=)
c.55043T= (p.Val18348=)
n.597-5743A=
n.3364+539A=
c.59063T= (p.Val19688=)
c.32957T= (p.Val10986=)
c.32816T= (p.Val10939=)
c.58859T= (p.Val19620=)
c.54257T= (p.Val18086=)
c.54254T= (p.Val18085=)
c.51296T= (p.Val17099=)
c.32912T= (p.Val10971=)
c.54407T= (p.Val18136=)
c.54404T= (p.Val18135=)
c.53837T= (p.Val17946=)
c.51179T= (p.Val17060=)
c.51098T= (p.Val17033=)
c.32861T= (p.Val10954=)
c.22715T= (p.Val7572=)
2g.178591853A>CCA60970190TTN,TTN-AS1c.52262T>G (p.Val17421Gly)
c.33347T>G (p.Val11116Gly)
c.33146T>G (p.Val11049Gly)
c.32771T>G (p.Val10924Gly)
c.59966T>G (p.Val19989Gly)
c.55043T>G (p.Val18348Gly)
n.597-5743A>C
n.3364+539A>C
c.59063T>G (p.Val19688Gly)
c.32957T>G (p.Val10986Gly)
c.32816T>G (p.Val10939Gly)
c.58859T>G (p.Val19620Gly)
c.54257T>G (p.Val18086Gly)
c.54254T>G (p.Val18085Gly)
c.51296T>G (p.Val17099Gly)
c.32912T>G (p.Val10971Gly)
c.54407T>G (p.Val18136Gly)
c.54404T>G (p.Val18135Gly)
c.53837T>G (p.Val17946Gly)
c.51179T>G (p.Val17060Gly)
c.51098T>G (p.Val17033Gly)
c.32861T>G (p.Val10954Gly)
c.22715T>G (p.Val7572Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178591853A>GCA310158TTN,TTN-AS1c.52262T>C (p.Val17421Ala)
c.33347T>C (p.Val11116Ala)
c.33146T>C (p.Val11049Ala)
c.32771T>C (p.Val10924Ala)
c.59966T>C (p.Val19989Ala)
c.55043T>C (p.Val18348Ala)
n.597-5743A>G
n.3364+539A>G
c.59063T>C (p.Val19688Ala)
c.32957T>C (p.Val10986Ala)
c.32816T>C (p.Val10939Ala)
c.58859T>C (p.Val19620Ala)
c.54257T>C (p.Val18086Ala)
c.54254T>C (p.Val18085Ala)
c.51296T>C (p.Val17099Ala)
c.32912T>C (p.Val10971Ala)
c.54407T>C (p.Val18136Ala)
c.54404T>C (p.Val18135Ala)
c.53837T>C (p.Val17946Ala)
c.51179T>C (p.Val17060Ala)
c.51098T>C (p.Val17033Ala)
c.32861T>C (p.Val10954Ala)
c.22715T>C (p.Val7572Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591853A>TCA349488240TTN,TTN-AS1c.52262T>A (p.Val17421Asp)
c.33347T>A (p.Val11116Asp)
c.33146T>A (p.Val11049Asp)
c.32771T>A (p.Val10924Asp)
c.59966T>A (p.Val19989Asp)
c.55043T>A (p.Val18348Asp)
n.597-5743A>T
n.3364+539A>T
c.59063T>A (p.Val19688Asp)
c.32957T>A (p.Val10986Asp)
c.32816T>A (p.Val10939Asp)
c.58859T>A (p.Val19620Asp)
c.54257T>A (p.Val18086Asp)
c.54254T>A (p.Val18085Asp)
c.51296T>A (p.Val17099Asp)
c.32912T>A (p.Val10971Asp)
c.54407T>A (p.Val18136Asp)
c.54404T>A (p.Val18135Asp)
c.53837T>A (p.Val17946Asp)
c.51179T>A (p.Val17060Asp)
c.51098T>A (p.Val17033Asp)
c.32861T>A (p.Val10954Asp)
c.22715T>A (p.Val7572Asp)
2g.178591854C>ACA349488241TTN,TTN-AS1c.52261G>T (p.Val17421Phe)
c.33346G>T (p.Val11116Phe)
c.33145G>T (p.Val11049Phe)
c.32770G>T (p.Val10924Phe)
c.59965G>T (p.Val19989Phe)
c.55042G>T (p.Val18348Phe)
n.597-5742C>A
n.3364+540C>A
c.59062G>T (p.Val19688Phe)
c.32956G>T (p.Val10986Phe)
c.32815G>T (p.Val10939Phe)
c.58858G>T (p.Val19620Phe)
c.54256G>T (p.Val18086Phe)
c.54253G>T (p.Val18085Phe)
c.51295G>T (p.Val17099Phe)
c.32911G>T (p.Val10971Phe)
c.54406G>T (p.Val18136Phe)
c.54403G>T (p.Val18135Phe)
c.53836G>T (p.Val17946Phe)
c.51178G>T (p.Val17060Phe)
c.51097G>T (p.Val17033Phe)
c.32860G>T (p.Val10954Phe)
c.22714G>T (p.Val7572Phe)
2g.178591854C=CA1310540425TTN,TTN-AS1c.52261G= (p.Val17421=)
c.33346G= (p.Val11116=)
c.33145G= (p.Val11049=)
c.32770G= (p.Val10924=)
c.59965G= (p.Val19989=)
c.55042G= (p.Val18348=)
n.597-5742C=
n.3364+540C=
c.59062G= (p.Val19688=)
c.32956G= (p.Val10986=)
c.32815G= (p.Val10939=)
c.58858G= (p.Val19620=)
c.54256G= (p.Val18086=)
c.54253G= (p.Val18085=)
c.51295G= (p.Val17099=)
c.32911G= (p.Val10971=)
c.54406G= (p.Val18136=)
c.54403G= (p.Val18135=)
c.53836G= (p.Val17946=)
c.51178G= (p.Val17060=)
c.51097G= (p.Val17033=)
c.32860G= (p.Val10954=)
c.22714G= (p.Val7572=)
2g.178591854C>GCA349488244TTN,TTN-AS1c.52261G>C (p.Val17421Leu)
c.33346G>C (p.Val11116Leu)
c.33145G>C (p.Val11049Leu)
c.32770G>C (p.Val10924Leu)
c.59965G>C (p.Val19989Leu)
c.55042G>C (p.Val18348Leu)
n.597-5742C>G
n.3364+540C>G
c.59062G>C (p.Val19688Leu)
c.32956G>C (p.Val10986Leu)
c.32815G>C (p.Val10939Leu)
c.58858G>C (p.Val19620Leu)
c.54256G>C (p.Val18086Leu)
c.54253G>C (p.Val18085Leu)
c.51295G>C (p.Val17099Leu)
c.32911G>C (p.Val10971Leu)
c.54406G>C (p.Val18136Leu)
c.54403G>C (p.Val18135Leu)
c.53836G>C (p.Val17946Leu)
c.51178G>C (p.Val17060Leu)
c.51097G>C (p.Val17033Leu)
c.32860G>C (p.Val10954Leu)
c.22714G>C (p.Val7572Leu)
 ClinVar dbSNP gnomAD v4
2g.178591854C>TCA60970192TTN,TTN-AS1c.52261G>A (p.Val17421Ile)
c.33346G>A (p.Val11116Ile)
c.33145G>A (p.Val11049Ile)
c.32770G>A (p.Val10924Ile)
c.59965G>A (p.Val19989Ile)
c.55042G>A (p.Val18348Ile)
n.597-5742C>T
n.3364+540C>T
c.59062G>A (p.Val19688Ile)
c.32956G>A (p.Val10986Ile)
c.32815G>A (p.Val10939Ile)
c.58858G>A (p.Val19620Ile)
c.54256G>A (p.Val18086Ile)
c.54253G>A (p.Val18085Ile)
c.51295G>A (p.Val17099Ile)
c.32911G>A (p.Val10971Ile)
c.54406G>A (p.Val18136Ile)
c.54403G>A (p.Val18135Ile)
c.53836G>A (p.Val17946Ile)
c.51178G>A (p.Val17060Ile)
c.51097G>A (p.Val17033Ile)
c.32860G>A (p.Val10954Ile)
c.22714G>A (p.Val7572Ile)
 ClinVar dbSNP gnomAD v4
2g.178591855A=CA1310540427TTN,TTN-AS1c.52260T= (p.Asp17420=)
c.33345T= (p.Asp11115=)
c.33144T= (p.Asp11048=)
c.32769T= (p.Asp10923=)
c.59964T= (p.Asp19988=)
c.55041T= (p.Asp18347=)
n.597-5741A=
n.3364+541A=
c.59061T= (p.Asp19687=)
c.32955T= (p.Asp10985=)
c.32814T= (p.Asp10938=)
c.58857T= (p.Asp19619=)
c.54255T= (p.Asp18085=)
c.54252T= (p.Asp18084=)
c.51294T= (p.Asp17098=)
c.32910T= (p.Asp10970=)
c.54405T= (p.Asp18135=)
c.54402T= (p.Asp18134=)
c.53835T= (p.Asp17945=)
c.51177T= (p.Asp17059=)
c.51096T= (p.Asp17032=)
c.32859T= (p.Asp10953=)
c.22713T= (p.Asp7571=)
2g.178591855A>CCA349488249TTN,TTN-AS1c.52260T>G (p.Asp17420Glu)
c.33345T>G (p.Asp11115Glu)
c.33144T>G (p.Asp11048Glu)
c.32769T>G (p.Asp10923Glu)
c.59964T>G (p.Asp19988Glu)
c.55041T>G (p.Asp18347Glu)
n.597-5741A>C
n.3364+541A>C
c.59061T>G (p.Asp19687Glu)
c.32955T>G (p.Asp10985Glu)
c.32814T>G (p.Asp10938Glu)
c.58857T>G (p.Asp19619Glu)
c.54255T>G (p.Asp18085Glu)
c.54252T>G (p.Asp18084Glu)
c.51294T>G (p.Asp17098Glu)
c.32910T>G (p.Asp10970Glu)
c.54405T>G (p.Asp18135Glu)
c.54402T>G (p.Asp18134Glu)
c.53835T>G (p.Asp17945Glu)
c.51177T>G (p.Asp17059Glu)
c.51096T>G (p.Asp17032Glu)
c.32859T>G (p.Asp10953Glu)
c.22713T>G (p.Asp7571Glu)
2g.178591855A>GCA430267262TTN,TTN-AS1c.52260T>C (p.Asp17420=)
c.33345T>C (p.Asp11115=)
c.33144T>C (p.Asp11048=)
c.32769T>C (p.Asp10923=)
c.59964T>C (p.Asp19988=)
c.55041T>C (p.Asp18347=)
n.597-5741A>G
n.3364+541A>G
c.59061T>C (p.Asp19687=)
c.32955T>C (p.Asp10985=)
c.32814T>C (p.Asp10938=)
c.58857T>C (p.Asp19619=)
c.54255T>C (p.Asp18085=)
c.54252T>C (p.Asp18084=)
c.51294T>C (p.Asp17098=)
c.32910T>C (p.Asp10970=)
c.54405T>C (p.Asp18135=)
c.54402T>C (p.Asp18134=)
c.53835T>C (p.Asp17945=)
c.51177T>C (p.Asp17059=)
c.51096T>C (p.Asp17032=)
c.32859T>C (p.Asp10953=)
c.22713T>C (p.Asp7571=)
 dbSNP gnomAD v2 gnomAD v4
2g.178591855A>TCA349488251TTN,TTN-AS1c.52260T>A (p.Asp17420Glu)
c.33345T>A (p.Asp11115Glu)
c.33144T>A (p.Asp11048Glu)
c.32769T>A (p.Asp10923Glu)
c.59964T>A (p.Asp19988Glu)
c.55041T>A (p.Asp18347Glu)
n.597-5741A>T
n.3364+541A>T
c.59061T>A (p.Asp19687Glu)
c.32955T>A (p.Asp10985Glu)
c.32814T>A (p.Asp10938Glu)
c.58857T>A (p.Asp19619Glu)
c.54255T>A (p.Asp18085Glu)
c.54252T>A (p.Asp18084Glu)
c.51294T>A (p.Asp17098Glu)
c.32910T>A (p.Asp10970Glu)
c.54405T>A (p.Asp18135Glu)
c.54402T>A (p.Asp18134Glu)
c.53835T>A (p.Asp17945Glu)
c.51177T>A (p.Asp17059Glu)
c.51096T>A (p.Asp17032Glu)
c.32859T>A (p.Asp10953Glu)
c.22713T>A (p.Asp7571Glu)
2g.178591856T>ACA349488253TTN,TTN-AS1c.52259A>T (p.Asp17420Val)
c.33344A>T (p.Asp11115Val)
c.33143A>T (p.Asp11048Val)
c.32768A>T (p.Asp10923Val)
c.59963A>T (p.Asp19988Val)
c.55040A>T (p.Asp18347Val)
n.597-5740T>A
n.3364+542T>A
c.59060A>T (p.Asp19687Val)
c.32954A>T (p.Asp10985Val)
c.32813A>T (p.Asp10938Val)
c.58856A>T (p.Asp19619Val)
c.54254A>T (p.Asp18085Val)
c.54251A>T (p.Asp18084Val)
c.51293A>T (p.Asp17098Val)
c.32909A>T (p.Asp10970Val)
c.54404A>T (p.Asp18135Val)
c.54401A>T (p.Asp18134Val)
c.53834A>T (p.Asp17945Val)
c.51176A>T (p.Asp17059Val)
c.51095A>T (p.Asp17032Val)
c.32858A>T (p.Asp10953Val)
c.22712A>T (p.Asp7571Val)
 gnomAD v4
2g.178591856T>CCA349488254TTN,TTN-AS1c.52259A>G (p.Asp17420Gly)
c.33344A>G (p.Asp11115Gly)
c.33143A>G (p.Asp11048Gly)
c.32768A>G (p.Asp10923Gly)
c.59963A>G (p.Asp19988Gly)
c.55040A>G (p.Asp18347Gly)
n.597-5740T>C
n.3364+542T>C
c.59060A>G (p.Asp19687Gly)
c.32954A>G (p.Asp10985Gly)
c.32813A>G (p.Asp10938Gly)
c.58856A>G (p.Asp19619Gly)
c.54254A>G (p.Asp18085Gly)
c.54251A>G (p.Asp18084Gly)
c.51293A>G (p.Asp17098Gly)
c.32909A>G (p.Asp10970Gly)
c.54404A>G (p.Asp18135Gly)
c.54401A>G (p.Asp18134Gly)
c.53834A>G (p.Asp17945Gly)
c.51176A>G (p.Asp17059Gly)
c.51095A>G (p.Asp17032Gly)
c.32858A>G (p.Asp10953Gly)
c.22712A>G (p.Asp7571Gly)
2g.178591856T>GCA349488258TTN,TTN-AS1c.52259A>C (p.Asp17420Ala)
c.33344A>C (p.Asp11115Ala)
c.33143A>C (p.Asp11048Ala)
c.32768A>C (p.Asp10923Ala)
c.59963A>C (p.Asp19988Ala)
c.55040A>C (p.Asp18347Ala)
n.597-5740T>G
n.3364+542T>G
c.59060A>C (p.Asp19687Ala)
c.32954A>C (p.Asp10985Ala)
c.32813A>C (p.Asp10938Ala)
c.58856A>C (p.Asp19619Ala)
c.54254A>C (p.Asp18085Ala)
c.54251A>C (p.Asp18084Ala)
c.51293A>C (p.Asp17098Ala)
c.32909A>C (p.Asp10970Ala)
c.54404A>C (p.Asp18135Ala)
c.54401A>C (p.Asp18134Ala)
c.53834A>C (p.Asp17945Ala)
c.51176A>C (p.Asp17059Ala)
c.51095A>C (p.Asp17032Ala)
c.32858A>C (p.Asp10953Ala)
c.22712A>C (p.Asp7571Ala)
2g.178591857C>ACA349488264TTN,TTN-AS1c.52258G>T (p.Asp17420Tyr)
c.33343G>T (p.Asp11115Tyr)
c.33142G>T (p.Asp11048Tyr)
c.32767G>T (p.Asp10923Tyr)
c.59962G>T (p.Asp19988Tyr)
c.55039G>T (p.Asp18347Tyr)
n.597-5739C>A
n.3364+543C>A
c.59059G>T (p.Asp19687Tyr)
c.32953G>T (p.Asp10985Tyr)
c.32812G>T (p.Asp10938Tyr)
c.58855G>T (p.Asp19619Tyr)
c.54253G>T (p.Asp18085Tyr)
c.54250G>T (p.Asp18084Tyr)
c.51292G>T (p.Asp17098Tyr)
c.32908G>T (p.Asp10970Tyr)
c.54403G>T (p.Asp18135Tyr)
c.54400G>T (p.Asp18134Tyr)
c.53833G>T (p.Asp17945Tyr)
c.51175G>T (p.Asp17059Tyr)
c.51094G>T (p.Asp17032Tyr)
c.32857G>T (p.Asp10953Tyr)
c.22711G>T (p.Asp7571Tyr)
2g.178591857C>GCA349488261TTN,TTN-AS1c.52258G>C (p.Asp17420His)
c.33343G>C (p.Asp11115His)
c.33142G>C (p.Asp11048His)
c.32767G>C (p.Asp10923His)
c.59962G>C (p.Asp19988His)
c.55039G>C (p.Asp18347His)
n.597-5739C>G
n.3364+543C>G
c.59059G>C (p.Asp19687His)
c.32953G>C (p.Asp10985His)
c.32812G>C (p.Asp10938His)
c.58855G>C (p.Asp19619His)
c.54253G>C (p.Asp18085His)
c.54250G>C (p.Asp18084His)
c.51292G>C (p.Asp17098His)
c.32908G>C (p.Asp10970His)
c.54403G>C (p.Asp18135His)
c.54400G>C (p.Asp18134His)
c.53833G>C (p.Asp17945His)
c.51175G>C (p.Asp17059His)
c.51094G>C (p.Asp17032His)
c.32857G>C (p.Asp10953His)
c.22711G>C (p.Asp7571His)
2g.178591857C>TCA349488263TTN,TTN-AS1c.52258G>A (p.Asp17420Asn)
c.33343G>A (p.Asp11115Asn)
c.33142G>A (p.Asp11048Asn)
c.32767G>A (p.Asp10923Asn)
c.59962G>A (p.Asp19988Asn)
c.55039G>A (p.Asp18347Asn)
n.597-5739C>T
n.3364+543C>T
c.59059G>A (p.Asp19687Asn)
c.32953G>A (p.Asp10985Asn)
c.32812G>A (p.Asp10938Asn)
c.58855G>A (p.Asp19619Asn)
c.54253G>A (p.Asp18085Asn)
c.54250G>A (p.Asp18084Asn)
c.51292G>A (p.Asp17098Asn)
c.32908G>A (p.Asp10970Asn)
c.54403G>A (p.Asp18135Asn)
c.54400G>A (p.Asp18134Asn)
c.53833G>A (p.Asp17945Asn)
c.51175G>A (p.Asp17059Asn)
c.51094G>A (p.Asp17032Asn)
c.32857G>A (p.Asp10953Asn)
c.22711G>A (p.Asp7571Asn)
2g.178591858T>ACA430267265TTN,TTN-AS1c.52257A>T (p.Val17419=)
c.33342A>T (p.Val11114=)
c.33141A>T (p.Val11047=)
c.32766A>T (p.Val10922=)
c.59961A>T (p.Val19987=)
c.55038A>T (p.Val18346=)
n.597-5738T>A
n.3364+544T>A
c.59058A>T (p.Val19686=)
c.32952A>T (p.Val10984=)
c.32811A>T (p.Val10937=)
c.58854A>T (p.Val19618=)
c.54252A>T (p.Val18084=)
c.54249A>T (p.Val18083=)
c.51291A>T (p.Val17097=)
c.32907A>T (p.Val10969=)
c.54402A>T (p.Val18134=)
c.54399A>T (p.Val18133=)
c.53832A>T (p.Val17944=)
c.51174A>T (p.Val17058=)
c.51093A>T (p.Val17031=)
c.32856A>T (p.Val10952=)
c.22710A>T (p.Val7570=)
2g.178591858T>CCA430267266TTN,TTN-AS1c.52257A>G (p.Val17419=)
c.33342A>G (p.Val11114=)
c.33141A>G (p.Val11047=)
c.32766A>G (p.Val10922=)
c.59961A>G (p.Val19987=)
c.55038A>G (p.Val18346=)
n.597-5738T>C
n.3364+544T>C
c.59058A>G (p.Val19686=)
c.32952A>G (p.Val10984=)
c.32811A>G (p.Val10937=)
c.58854A>G (p.Val19618=)
c.54252A>G (p.Val18084=)
c.54249A>G (p.Val18083=)
c.51291A>G (p.Val17097=)
c.32907A>G (p.Val10969=)
c.54402A>G (p.Val18134=)
c.54399A>G (p.Val18133=)
c.53832A>G (p.Val17944=)
c.51174A>G (p.Val17058=)
c.51093A>G (p.Val17031=)
c.32856A>G (p.Val10952=)
c.22710A>G (p.Val7570=)
2g.178591858T>GCA430267268TTN,TTN-AS1c.52257A>C (p.Val17419=)
c.33342A>C (p.Val11114=)
c.33141A>C (p.Val11047=)
c.32766A>C (p.Val10922=)
c.59961A>C (p.Val19987=)
c.55038A>C (p.Val18346=)
n.597-5738T>G
n.3364+544T>G
c.59058A>C (p.Val19686=)
c.32952A>C (p.Val10984=)
c.32811A>C (p.Val10937=)
c.58854A>C (p.Val19618=)
c.54252A>C (p.Val18084=)
c.54249A>C (p.Val18083=)
c.51291A>C (p.Val17097=)
c.32907A>C (p.Val10969=)
c.54402A>C (p.Val18134=)
c.54399A>C (p.Val18133=)
c.53832A>C (p.Val17944=)
c.51174A>C (p.Val17058=)
c.51093A>C (p.Val17031=)
c.32856A>C (p.Val10952=)
c.22710A>C (p.Val7570=)
2g.178591859A=CA1310540429TTN,TTN-AS1c.52256T= (p.Val17419=)
c.33341T= (p.Val11114=)
c.33140T= (p.Val11047=)
c.32765T= (p.Val10922=)
c.59960T= (p.Val19987=)
c.55037T= (p.Val18346=)
n.597-5737A=
n.3364+545A=
c.59057T= (p.Val19686=)
c.32951T= (p.Val10984=)
c.32810T= (p.Val10937=)
c.58853T= (p.Val19618=)
c.54251T= (p.Val18084=)
c.54248T= (p.Val18083=)
c.51290T= (p.Val17097=)
c.32906T= (p.Val10969=)
c.54401T= (p.Val18134=)
c.54398T= (p.Val18133=)
c.53831T= (p.Val17944=)
c.51173T= (p.Val17058=)
c.51092T= (p.Val17031=)
c.32855T= (p.Val10952=)
c.22709T= (p.Val7570=)
2g.178591859A>CCA349488265TTN,TTN-AS1c.52256T>G (p.Val17419Gly)
c.33341T>G (p.Val11114Gly)
c.33140T>G (p.Val11047Gly)
c.32765T>G (p.Val10922Gly)
c.59960T>G (p.Val19987Gly)
c.55037T>G (p.Val18346Gly)
n.597-5737A>C
n.3364+545A>C
c.59057T>G (p.Val19686Gly)
c.32951T>G (p.Val10984Gly)
c.32810T>G (p.Val10937Gly)
c.58853T>G (p.Val19618Gly)
c.54251T>G (p.Val18084Gly)
c.54248T>G (p.Val18083Gly)
c.51290T>G (p.Val17097Gly)
c.32906T>G (p.Val10969Gly)
c.54401T>G (p.Val18134Gly)
c.54398T>G (p.Val18133Gly)
c.53831T>G (p.Val17944Gly)
c.51173T>G (p.Val17058Gly)
c.51092T>G (p.Val17031Gly)
c.32855T>G (p.Val10952Gly)
c.22709T>G (p.Val7570Gly)
2g.178591859A>GCA349488267TTN,TTN-AS1c.52256T>C (p.Val17419Ala)
c.33341T>C (p.Val11114Ala)
c.33140T>C (p.Val11047Ala)
c.32765T>C (p.Val10922Ala)
c.59960T>C (p.Val19987Ala)
c.55037T>C (p.Val18346Ala)
n.597-5737A>G
n.3364+545A>G
c.59057T>C (p.Val19686Ala)
c.32951T>C (p.Val10984Ala)
c.32810T>C (p.Val10937Ala)
c.58853T>C (p.Val19618Ala)
c.54251T>C (p.Val18084Ala)
c.54248T>C (p.Val18083Ala)
c.51290T>C (p.Val17097Ala)
c.32906T>C (p.Val10969Ala)
c.54401T>C (p.Val18134Ala)
c.54398T>C (p.Val18133Ala)
c.53831T>C (p.Val17944Ala)
c.51173T>C (p.Val17058Ala)
c.51092T>C (p.Val17031Ala)
c.32855T>C (p.Val10952Ala)
c.22709T>C (p.Val7570Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178591859A>TCA349488266TTN,TTN-AS1c.52256T>A (p.Val17419Glu)
c.33341T>A (p.Val11114Glu)
c.33140T>A (p.Val11047Glu)
c.32765T>A (p.Val10922Glu)
c.59960T>A (p.Val19987Glu)
c.55037T>A (p.Val18346Glu)
n.597-5737A>T
n.3364+545A>T
c.59057T>A (p.Val19686Glu)
c.32951T>A (p.Val10984Glu)
c.32810T>A (p.Val10937Glu)
c.58853T>A (p.Val19618Glu)
c.54251T>A (p.Val18084Glu)
c.54248T>A (p.Val18083Glu)
c.51290T>A (p.Val17097Glu)
c.32906T>A (p.Val10969Glu)
c.54401T>A (p.Val18134Glu)
c.54398T>A (p.Val18133Glu)
c.53831T>A (p.Val17944Glu)
c.51173T>A (p.Val17058Glu)
c.51092T>A (p.Val17031Glu)
c.32855T>A (p.Val10952Glu)
c.22709T>A (p.Val7570Glu)
 dbSNP gnomAD v4
2g.178591860C>ACA349488270TTN,TTN-AS1c.52255G>T (p.Val17419Leu)
c.33340G>T (p.Val11114Leu)
c.33139G>T (p.Val11047Leu)
c.32764G>T (p.Val10922Leu)
c.59959G>T (p.Val19987Leu)
c.55036G>T (p.Val18346Leu)
n.597-5736C>A
n.3364+546C>A
c.59056G>T (p.Val19686Leu)
c.32950G>T (p.Val10984Leu)
c.32809G>T (p.Val10937Leu)
c.58852G>T (p.Val19618Leu)
c.54250G>T (p.Val18084Leu)
c.54247G>T (p.Val18083Leu)
c.51289G>T (p.Val17097Leu)
c.32905G>T (p.Val10969Leu)
c.54400G>T (p.Val18134Leu)
c.54397G>T (p.Val18133Leu)
c.53830G>T (p.Val17944Leu)
c.51172G>T (p.Val17058Leu)
c.51091G>T (p.Val17031Leu)
c.32854G>T (p.Val10952Leu)
c.22708G>T (p.Val7570Leu)
2g.178591860C>GCA349488278TTN,TTN-AS1c.52255G>C (p.Val17419Leu)
c.33340G>C (p.Val11114Leu)
c.33139G>C (p.Val11047Leu)
c.32764G>C (p.Val10922Leu)
c.59959G>C (p.Val19987Leu)
c.55036G>C (p.Val18346Leu)
n.597-5736C>G
n.3364+546C>G
c.59056G>C (p.Val19686Leu)
c.32950G>C (p.Val10984Leu)
c.32809G>C (p.Val10937Leu)
c.58852G>C (p.Val19618Leu)
c.54250G>C (p.Val18084Leu)
c.54247G>C (p.Val18083Leu)
c.51289G>C (p.Val17097Leu)
c.32905G>C (p.Val10969Leu)
c.54400G>C (p.Val18134Leu)
c.54397G>C (p.Val18133Leu)
c.53830G>C (p.Val17944Leu)
c.51172G>C (p.Val17058Leu)
c.51091G>C (p.Val17031Leu)
c.32854G>C (p.Val10952Leu)
c.22708G>C (p.Val7570Leu)
2g.178591860C>TCA349488272TTN,TTN-AS1c.52255G>A (p.Val17419Ile)
c.33340G>A (p.Val11114Ile)
c.33139G>A (p.Val11047Ile)
c.32764G>A (p.Val10922Ile)
c.59959G>A (p.Val19987Ile)
c.55036G>A (p.Val18346Ile)
n.597-5736C>T
n.3364+546C>T
c.59056G>A (p.Val19686Ile)
c.32950G>A (p.Val10984Ile)
c.32809G>A (p.Val10937Ile)
c.58852G>A (p.Val19618Ile)
c.54250G>A (p.Val18084Ile)
c.54247G>A (p.Val18083Ile)
c.51289G>A (p.Val17097Ile)
c.32905G>A (p.Val10969Ile)
c.54400G>A (p.Val18134Ile)
c.54397G>A (p.Val18133Ile)
c.53830G>A (p.Val17944Ile)
c.51172G>A (p.Val17058Ile)
c.51091G>A (p.Val17031Ile)
c.32854G>A (p.Val10952Ile)
c.22708G>A (p.Val7570Ile)
2g.178591861A=CA1310540430TTN,TTN-AS1c.52254T= (p.His17418=)
c.33339T= (p.His11113=)
c.33138T= (p.His11046=)
c.32763T= (p.His10921=)
c.59958T= (p.His19986=)
c.55035T= (p.His18345=)
n.597-5735A=
n.3364+547A=
c.59055T= (p.His19685=)
c.32949T= (p.His10983=)
c.32808T= (p.His10936=)
c.58851T= (p.His19617=)
c.54249T= (p.His18083=)
c.54246T= (p.His18082=)
c.51288T= (p.His17096=)
c.32904T= (p.His10968=)
c.54399T= (p.His18133=)
c.54396T= (p.His18132=)
c.53829T= (p.His17943=)
c.51171T= (p.His17057=)
c.51090T= (p.His17030=)
c.32853T= (p.His10951=)
c.22707T= (p.His7569=)
2g.178591861A>CCA349488281TTN,TTN-AS1c.52254T>G (p.His17418Gln)
c.33339T>G (p.His11113Gln)
c.33138T>G (p.His11046Gln)
c.32763T>G (p.His10921Gln)
c.59958T>G (p.His19986Gln)
c.55035T>G (p.His18345Gln)
n.597-5735A>C
n.3364+547A>C
c.59055T>G (p.His19685Gln)
c.32949T>G (p.His10983Gln)
c.32808T>G (p.His10936Gln)
c.58851T>G (p.His19617Gln)
c.54249T>G (p.His18083Gln)
c.54246T>G (p.His18082Gln)
c.51288T>G (p.His17096Gln)
c.32904T>G (p.His10968Gln)
c.54399T>G (p.His18133Gln)
c.54396T>G (p.His18132Gln)
c.53829T>G (p.His17943Gln)
c.51171T>G (p.His17057Gln)
c.51090T>G (p.His17030Gln)
c.32853T>G (p.His10951Gln)
c.22707T>G (p.His7569Gln)
2g.178591861A>GCA430267276TTN,TTN-AS1c.52254T>C (p.His17418=)
c.33339T>C (p.His11113=)
c.33138T>C (p.His11046=)
c.32763T>C (p.His10921=)
c.59958T>C (p.His19986=)
c.55035T>C (p.His18345=)
n.597-5735A>G
n.3364+547A>G
c.59055T>C (p.His19685=)
c.32949T>C (p.His10983=)
c.32808T>C (p.His10936=)
c.58851T>C (p.His19617=)
c.54249T>C (p.His18083=)
c.54246T>C (p.His18082=)
c.51288T>C (p.His17096=)
c.32904T>C (p.His10968=)
c.54399T>C (p.His18133=)
c.54396T>C (p.His18132=)
c.53829T>C (p.His17943=)
c.51171T>C (p.His17057=)
c.51090T>C (p.His17030=)
c.32853T>C (p.His10951=)
c.22707T>C (p.His7569=)
 dbSNP gnomAD v2 gnomAD v4
2g.178591861A>TCA349488283TTN,TTN-AS1c.52254T>A (p.His17418Gln)
c.33339T>A (p.His11113Gln)
c.33138T>A (p.His11046Gln)
c.32763T>A (p.His10921Gln)
c.59958T>A (p.His19986Gln)
c.55035T>A (p.His18345Gln)
n.597-5735A>T
n.3364+547A>T
c.59055T>A (p.His19685Gln)
c.32949T>A (p.His10983Gln)
c.32808T>A (p.His10936Gln)
c.58851T>A (p.His19617Gln)
c.54249T>A (p.His18083Gln)
c.54246T>A (p.His18082Gln)
c.51288T>A (p.His17096Gln)
c.32904T>A (p.His10968Gln)
c.54399T>A (p.His18133Gln)
c.54396T>A (p.His18132Gln)
c.53829T>A (p.His17943Gln)
c.51171T>A (p.His17057Gln)
c.51090T>A (p.His17030Gln)
c.32853T>A (p.His10951Gln)
c.22707T>A (p.His7569Gln)
2g.178591862T>ACA349488290TTN,TTN-AS1c.52253A>T (p.His17418Leu)
c.33338A>T (p.His11113Leu)
c.33137A>T (p.His11046Leu)
c.32762A>T (p.His10921Leu)
c.59957A>T (p.His19986Leu)
c.55034A>T (p.His18345Leu)
n.597-5734T>A
n.3364+548T>A
c.59054A>T (p.His19685Leu)
c.32948A>T (p.His10983Leu)
c.32807A>T (p.His10936Leu)
c.58850A>T (p.His19617Leu)
c.54248A>T (p.His18083Leu)
c.54245A>T (p.His18082Leu)
c.51287A>T (p.His17096Leu)
c.32903A>T (p.His10968Leu)
c.54398A>T (p.His18133Leu)
c.54395A>T (p.His18132Leu)
c.53828A>T (p.His17943Leu)
c.51170A>T (p.His17057Leu)
c.51089A>T (p.His17030Leu)
c.32852A>T (p.His10951Leu)
c.22706A>T (p.His7569Leu)
 gnomAD v4
2g.178591862T>CCA349488292TTN,TTN-AS1c.52253A>G (p.His17418Arg)
c.33338A>G (p.His11113Arg)
c.33137A>G (p.His11046Arg)
c.32762A>G (p.His10921Arg)
c.59957A>G (p.His19986Arg)
c.55034A>G (p.His18345Arg)
n.597-5734T>C
n.3364+548T>C
c.59054A>G (p.His19685Arg)
c.32948A>G (p.His10983Arg)
c.32807A>G (p.His10936Arg)
c.58850A>G (p.His19617Arg)
c.54248A>G (p.His18083Arg)
c.54245A>G (p.His18082Arg)
c.51287A>G (p.His17096Arg)
c.32903A>G (p.His10968Arg)
c.54398A>G (p.His18133Arg)
c.54395A>G (p.His18132Arg)
c.53828A>G (p.His17943Arg)
c.51170A>G (p.His17057Arg)
c.51089A>G (p.His17030Arg)
c.32852A>G (p.His10951Arg)
c.22706A>G (p.His7569Arg)
 gnomAD v4
2g.178591862T>GCA349488296TTN,TTN-AS1c.52253A>C (p.His17418Pro)
c.33338A>C (p.His11113Pro)
c.33137A>C (p.His11046Pro)
c.32762A>C (p.His10921Pro)
c.59957A>C (p.His19986Pro)
c.55034A>C (p.His18345Pro)
n.597-5734T>G
n.3364+548T>G
c.59054A>C (p.His19685Pro)
c.32948A>C (p.His10983Pro)
c.32807A>C (p.His10936Pro)
c.58850A>C (p.His19617Pro)
c.54248A>C (p.His18083Pro)
c.54245A>C (p.His18082Pro)
c.51287A>C (p.His17096Pro)
c.32903A>C (p.His10968Pro)
c.54398A>C (p.His18133Pro)
c.54395A>C (p.His18132Pro)
c.53828A>C (p.His17943Pro)
c.51170A>C (p.His17057Pro)
c.51089A>C (p.His17030Pro)
c.32852A>C (p.His10951Pro)
c.22706A>C (p.His7569Pro)
2g.178591863G>ACA349488298TTN,TTN-AS1c.52252C>T (p.His17418Tyr)
c.33337C>T (p.His11113Tyr)
c.33136C>T (p.His11046Tyr)
c.32761C>T (p.His10921Tyr)
c.59956C>T (p.His19986Tyr)
c.55033C>T (p.His18345Tyr)
n.597-5733G>A
n.3364+549G>A
c.59053C>T (p.His19685Tyr)
c.32947C>T (p.His10983Tyr)
c.32806C>T (p.His10936Tyr)
c.58849C>T (p.His19617Tyr)
c.54247C>T (p.His18083Tyr)
c.54244C>T (p.His18082Tyr)
c.51286C>T (p.His17096Tyr)
c.32902C>T (p.His10968Tyr)
c.54397C>T (p.His18133Tyr)
c.54394C>T (p.His18132Tyr)
c.53827C>T (p.His17943Tyr)
c.51169C>T (p.His17057Tyr)
c.51088C>T (p.His17030Tyr)
c.32851C>T (p.His10951Tyr)
c.22705C>T (p.His7569Tyr)
2g.178591863G>CCA349488300TTN,TTN-AS1c.52252C>G (p.His17418Asp)
c.33337C>G (p.His11113Asp)
c.33136C>G (p.His11046Asp)
c.32761C>G (p.His10921Asp)
c.59956C>G (p.His19986Asp)
c.55033C>G (p.His18345Asp)
n.597-5733G>C
n.3364+549G>C
c.59053C>G (p.His19685Asp)
c.32947C>G (p.His10983Asp)
c.32806C>G (p.His10936Asp)
c.58849C>G (p.His19617Asp)
c.54247C>G (p.His18083Asp)
c.54244C>G (p.His18082Asp)
c.51286C>G (p.His17096Asp)
c.32902C>G (p.His10968Asp)
c.54397C>G (p.His18133Asp)
c.54394C>G (p.His18132Asp)
c.53827C>G (p.His17943Asp)
c.51169C>G (p.His17057Asp)
c.51088C>G (p.His17030Asp)
c.32851C>G (p.His10951Asp)
c.22705C>G (p.His7569Asp)
2g.178591863G>TCA349488303TTN,TTN-AS1c.52252C>A (p.His17418Asn)
c.33337C>A (p.His11113Asn)
c.33136C>A (p.His11046Asn)
c.32761C>A (p.His10921Asn)
c.59956C>A (p.His19986Asn)
c.55033C>A (p.His18345Asn)
n.597-5733G>T
n.3364+549G>T
c.59053C>A (p.His19685Asn)
c.32947C>A (p.His10983Asn)
c.32806C>A (p.His10936Asn)
c.58849C>A (p.His19617Asn)
c.54247C>A (p.His18083Asn)
c.54244C>A (p.His18082Asn)
c.51286C>A (p.His17096Asn)
c.32902C>A (p.His10968Asn)
c.54397C>A (p.His18133Asn)
c.54394C>A (p.His18132Asn)
c.53827C>A (p.His17943Asn)
c.51169C>A (p.His17057Asn)
c.51088C>A (p.His17030Asn)
c.32851C>A (p.His10951Asn)
c.22705C>A (p.His7569Asn)
2g.178591864G>ACA430267287TTN,TTN-AS1c.52251C>T (p.His17417=)
c.33336C>T (p.His11112=)
c.33135C>T (p.His11045=)
c.32760C>T (p.His10920=)
c.59955C>T (p.His19985=)
c.55032C>T (p.His18344=)
n.597-5732G>A
n.3364+550G>A
c.59052C>T (p.His19684=)
c.32946C>T (p.His10982=)
c.32805C>T (p.His10935=)
c.58848C>T (p.His19616=)
c.54246C>T (p.His18082=)
c.54243C>T (p.His18081=)
c.51285C>T (p.His17095=)
c.32901C>T (p.His10967=)
c.54396C>T (p.His18132=)
c.54393C>T (p.His18131=)
c.53826C>T (p.His17942=)
c.51168C>T (p.His17056=)
c.51087C>T (p.His17029=)
c.32850C>T (p.His10950=)
c.22704C>T (p.His7568=)
2g.178591864G>CCA349488308TTN,TTN-AS1c.52251C>G (p.His17417Gln)
c.33336C>G (p.His11112Gln)
c.33135C>G (p.His11045Gln)
c.32760C>G (p.His10920Gln)
c.59955C>G (p.His19985Gln)
c.55032C>G (p.His18344Gln)
n.597-5732G>C
n.3364+550G>C
c.59052C>G (p.His19684Gln)
c.32946C>G (p.His10982Gln)
c.32805C>G (p.His10935Gln)
c.58848C>G (p.His19616Gln)
c.54246C>G (p.His18082Gln)
c.54243C>G (p.His18081Gln)
c.51285C>G (p.His17095Gln)
c.32901C>G (p.His10967Gln)
c.54396C>G (p.His18132Gln)
c.54393C>G (p.His18131Gln)
c.53826C>G (p.His17942Gln)
c.51168C>G (p.His17056Gln)
c.51087C>G (p.His17029Gln)
c.32850C>G (p.His10950Gln)
c.22704C>G (p.His7568Gln)
2g.178591864G>TCA349488312TTN,TTN-AS1c.52251C>A (p.His17417Gln)
c.33336C>A (p.His11112Gln)
c.33135C>A (p.His11045Gln)
c.32760C>A (p.His10920Gln)
c.59955C>A (p.His19985Gln)
c.55032C>A (p.His18344Gln)
n.597-5732G>T
n.3364+550G>T
c.59052C>A (p.His19684Gln)
c.32946C>A (p.His10982Gln)
c.32805C>A (p.His10935Gln)
c.58848C>A (p.His19616Gln)
c.54246C>A (p.His18082Gln)
c.54243C>A (p.His18081Gln)
c.51285C>A (p.His17095Gln)
c.32901C>A (p.His10967Gln)
c.54396C>A (p.His18132Gln)
c.54393C>A (p.His18131Gln)
c.53826C>A (p.His17942Gln)
c.51168C>A (p.His17056Gln)
c.51087C>A (p.His17029Gln)
c.32850C>A (p.His10950Gln)
c.22704C>A (p.His7568Gln)
2g.178591865T>ACA349488319TTN,TTN-AS1c.52250A>T (p.His17417Leu)
c.33335A>T (p.His11112Leu)
c.33134A>T (p.His11045Leu)
c.32759A>T (p.His10920Leu)
c.59954A>T (p.His19985Leu)
c.55031A>T (p.His18344Leu)
n.597-5731T>A
n.3364+551T>A
c.59051A>T (p.His19684Leu)
c.32945A>T (p.His10982Leu)
c.32804A>T (p.His10935Leu)
c.58847A>T (p.His19616Leu)
c.54245A>T (p.His18082Leu)
c.54242A>T (p.His18081Leu)
c.51284A>T (p.His17095Leu)
c.32900A>T (p.His10967Leu)
c.54395A>T (p.His18132Leu)
c.54392A>T (p.His18131Leu)
c.53825A>T (p.His17942Leu)
c.51167A>T (p.His17056Leu)
c.51086A>T (p.His17029Leu)
c.32849A>T (p.His10950Leu)
c.22703A>T (p.His7568Leu)
2g.178591865T>CCA60970194TTN,TTN-AS1c.52250A>G (p.His17417Arg)
c.33335A>G (p.His11112Arg)
c.33134A>G (p.His11045Arg)
c.32759A>G (p.His10920Arg)
c.59954A>G (p.His19985Arg)
c.55031A>G (p.His18344Arg)
n.597-5731T>C
n.3364+551T>C
c.59051A>G (p.His19684Arg)
c.32945A>G (p.His10982Arg)
c.32804A>G (p.His10935Arg)
c.58847A>G (p.His19616Arg)
c.54245A>G (p.His18082Arg)
c.54242A>G (p.His18081Arg)
c.51284A>G (p.His17095Arg)
c.32900A>G (p.His10967Arg)
c.54395A>G (p.His18132Arg)
c.54392A>G (p.His18131Arg)
c.53825A>G (p.His17942Arg)
c.51167A>G (p.His17056Arg)
c.51086A>G (p.His17029Arg)
c.32849A>G (p.His10950Arg)
c.22703A>G (p.His7568Arg)
 dbSNP
2g.178591865T>GCA349488316TTN,TTN-AS1c.52250A>C (p.His17417Pro)
c.33335A>C (p.His11112Pro)
c.33134A>C (p.His11045Pro)
c.32759A>C (p.His10920Pro)
c.59954A>C (p.His19985Pro)
c.55031A>C (p.His18344Pro)
n.597-5731T>G
n.3364+551T>G
c.59051A>C (p.His19684Pro)
c.32945A>C (p.His10982Pro)
c.32804A>C (p.His10935Pro)
c.58847A>C (p.His19616Pro)
c.54245A>C (p.His18082Pro)
c.54242A>C (p.His18081Pro)
c.51284A>C (p.His17095Pro)
c.32900A>C (p.His10967Pro)
c.54395A>C (p.His18132Pro)
c.54392A>C (p.His18131Pro)
c.53825A>C (p.His17942Pro)
c.51167A>C (p.His17056Pro)
c.51086A>C (p.His17029Pro)
c.32849A>C (p.His10950Pro)
c.22703A>C (p.His7568Pro)
2g.178591865T=CA1310540432TTN,TTN-AS1c.52250A= (p.His17417=)
c.33335A= (p.His11112=)
c.33134A= (p.His11045=)
c.32759A= (p.His10920=)
c.59954A= (p.His19985=)
c.55031A= (p.His18344=)
n.597-5731T=
n.3364+551T=
c.59051A= (p.His19684=)
c.32945A= (p.His10982=)
c.32804A= (p.His10935=)
c.58847A= (p.His19616=)
c.54245A= (p.His18082=)
c.54242A= (p.His18081=)
c.51284A= (p.His17095=)
c.32900A= (p.His10967=)
c.54395A= (p.His18132=)
c.54392A= (p.His18131=)
c.53825A= (p.His17942=)
c.51167A= (p.His17056=)
c.51086A= (p.His17029=)
c.32849A= (p.His10950=)
c.22703A= (p.His7568=)
2g.178591866G>ACA349488322TTN,TTN-AS1c.52249C>T (p.His17417Tyr)
c.33334C>T (p.His11112Tyr)
c.33133C>T (p.His11045Tyr)
c.32758C>T (p.His10920Tyr)
c.59953C>T (p.His19985Tyr)
c.55030C>T (p.His18344Tyr)
n.597-5730G>A
n.3364+552G>A
c.59050C>T (p.His19684Tyr)
c.32944C>T (p.His10982Tyr)
c.32803C>T (p.His10935Tyr)
c.58846C>T (p.His19616Tyr)
c.54244C>T (p.His18082Tyr)
c.54241C>T (p.His18081Tyr)
c.51283C>T (p.His17095Tyr)
c.32899C>T (p.His10967Tyr)
c.54394C>T (p.His18132Tyr)
c.54391C>T (p.His18131Tyr)
c.53824C>T (p.His17942Tyr)
c.51166C>T (p.His17056Tyr)
c.51085C>T (p.His17029Tyr)
c.32848C>T (p.His10950Tyr)
c.22702C>T (p.His7568Tyr)
 gnomAD v4
2g.178591866G>CCA349488323TTN,TTN-AS1c.52249C>G (p.His17417Asp)
c.33334C>G (p.His11112Asp)
c.33133C>G (p.His11045Asp)
c.32758C>G (p.His10920Asp)
c.59953C>G (p.His19985Asp)
c.55030C>G (p.His18344Asp)
n.597-5730G>C
n.3364+552G>C
c.59050C>G (p.His19684Asp)
c.32944C>G (p.His10982Asp)
c.32803C>G (p.His10935Asp)
c.58846C>G (p.His19616Asp)
c.54244C>G (p.His18082Asp)
c.54241C>G (p.His18081Asp)
c.51283C>G (p.His17095Asp)
c.32899C>G (p.His10967Asp)
c.54394C>G (p.His18132Asp)
c.54391C>G (p.His18131Asp)
c.53824C>G (p.His17942Asp)
c.51166C>G (p.His17056Asp)
c.51085C>G (p.His17029Asp)
c.32848C>G (p.His10950Asp)
c.22702C>G (p.His7568Asp)
2g.178591866G>TCA349488324TTN,TTN-AS1c.52249C>A (p.His17417Asn)
c.33334C>A (p.His11112Asn)
c.33133C>A (p.His11045Asn)
c.32758C>A (p.His10920Asn)
c.59953C>A (p.His19985Asn)
c.55030C>A (p.His18344Asn)
n.597-5730G>T
n.3364+552G>T
c.59050C>A (p.His19684Asn)
c.32944C>A (p.His10982Asn)
c.32803C>A (p.His10935Asn)
c.58846C>A (p.His19616Asn)
c.54244C>A (p.His18082Asn)
c.54241C>A (p.His18081Asn)
c.51283C>A (p.His17095Asn)
c.32899C>A (p.His10967Asn)
c.54394C>A (p.His18132Asn)
c.54391C>A (p.His18131Asn)
c.53824C>A (p.His17942Asn)
c.51166C>A (p.His17056Asn)
c.51085C>A (p.His17029Asn)
c.32848C>A (p.His10950Asn)
c.22702C>A (p.His7568Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178591867C>ACA430267293TTN,TTN-AS1c.52248G>T (p.Leu17416=)
c.33333G>T (p.Leu11111=)
c.33132G>T (p.Leu11044=)
c.32757G>T (p.Leu10919=)
c.59952G>T (p.Leu19984=)
c.55029G>T (p.Leu18343=)
n.597-5729C>A
n.3364+553C>A
c.59049G>T (p.Leu19683=)
c.32943G>T (p.Leu10981=)
c.32802G>T (p.Leu10934=)
c.58845G>T (p.Leu19615=)
c.54243G>T (p.Leu18081=)
c.54240G>T (p.Leu18080=)
c.51282G>T (p.Leu17094=)
c.32898G>T (p.Leu10966=)
c.54393G>T (p.Leu18131=)
c.54390G>T (p.Leu18130=)
c.53823G>T (p.Leu17941=)
c.51165G>T (p.Leu17055=)
c.51084G>T (p.Leu17028=)
c.32847G>T (p.Leu10949=)
c.22701G>T (p.Leu7567=)
2g.178591867C>GCA430267297TTN,TTN-AS1c.52248G>C (p.Leu17416=)
c.33333G>C (p.Leu11111=)
c.33132G>C (p.Leu11044=)
c.32757G>C (p.Leu10919=)
c.59952G>C (p.Leu19984=)
c.55029G>C (p.Leu18343=)
n.597-5729C>G
n.3364+553C>G
c.59049G>C (p.Leu19683=)
c.32943G>C (p.Leu10981=)
c.32802G>C (p.Leu10934=)
c.58845G>C (p.Leu19615=)
c.54243G>C (p.Leu18081=)
c.54240G>C (p.Leu18080=)
c.51282G>C (p.Leu17094=)
c.32898G>C (p.Leu10966=)
c.54393G>C (p.Leu18131=)
c.54390G>C (p.Leu18130=)
c.53823G>C (p.Leu17941=)
c.51165G>C (p.Leu17055=)
c.51084G>C (p.Leu17028=)
c.32847G>C (p.Leu10949=)
c.22701G>C (p.Leu7567=)
2g.178591867C>TCA430267298TTN,TTN-AS1c.52248G>A (p.Leu17416=)
c.33333G>A (p.Leu11111=)
c.33132G>A (p.Leu11044=)
c.32757G>A (p.Leu10919=)
c.59952G>A (p.Leu19984=)
c.55029G>A (p.Leu18343=)
n.597-5729C>T
n.3364+553C>T
c.59049G>A (p.Leu19683=)
c.32943G>A (p.Leu10981=)
c.32802G>A (p.Leu10934=)
c.58845G>A (p.Leu19615=)
c.54243G>A (p.Leu18081=)
c.54240G>A (p.Leu18080=)
c.51282G>A (p.Leu17094=)
c.32898G>A (p.Leu10966=)
c.54393G>A (p.Leu18131=)
c.54390G>A (p.Leu18130=)
c.53823G>A (p.Leu17941=)
c.51165G>A (p.Leu17055=)
c.51084G>A (p.Leu17028=)
c.32847G>A (p.Leu10949=)
c.22701G>A (p.Leu7567=)
2g.178591868A>CCA349488326TTN,TTN-AS1c.52247T>G (p.Leu17416Arg)
c.33332T>G (p.Leu11111Arg)
c.33131T>G (p.Leu11044Arg)
c.32756T>G (p.Leu10919Arg)
c.59951T>G (p.Leu19984Arg)
c.55028T>G (p.Leu18343Arg)
n.597-5728A>C
n.3364+554A>C
c.59048T>G (p.Leu19683Arg)
c.32942T>G (p.Leu10981Arg)
c.32801T>G (p.Leu10934Arg)
c.58844T>G (p.Leu19615Arg)
c.54242T>G (p.Leu18081Arg)
c.54239T>G (p.Leu18080Arg)
c.51281T>G (p.Leu17094Arg)
c.32897T>G (p.Leu10966Arg)
c.54392T>G (p.Leu18131Arg)
c.54389T>G (p.Leu18130Arg)
c.53822T>G (p.Leu17941Arg)
c.51164T>G (p.Leu17055Arg)
c.51083T>G (p.Leu17028Arg)
c.32846T>G (p.Leu10949Arg)
c.22700T>G (p.Leu7567Arg)
2g.178591868A>GCA349488330TTN,TTN-AS1c.52247T>C (p.Leu17416Pro)
c.33332T>C (p.Leu11111Pro)
c.33131T>C (p.Leu11044Pro)
c.32756T>C (p.Leu10919Pro)
c.59951T>C (p.Leu19984Pro)
c.55028T>C (p.Leu18343Pro)
n.597-5728A>G
n.3364+554A>G
c.59048T>C (p.Leu19683Pro)
c.32942T>C (p.Leu10981Pro)
c.32801T>C (p.Leu10934Pro)
c.58844T>C (p.Leu19615Pro)
c.54242T>C (p.Leu18081Pro)
c.54239T>C (p.Leu18080Pro)
c.51281T>C (p.Leu17094Pro)
c.32897T>C (p.Leu10966Pro)
c.54392T>C (p.Leu18131Pro)
c.54389T>C (p.Leu18130Pro)
c.53822T>C (p.Leu17941Pro)
c.51164T>C (p.Leu17055Pro)
c.51083T>C (p.Leu17028Pro)
c.32846T>C (p.Leu10949Pro)
c.22700T>C (p.Leu7567Pro)
 gnomAD v4
2g.178591868A>TCA349488333TTN,TTN-AS1c.52247T>A (p.Leu17416Gln)
c.33332T>A (p.Leu11111Gln)
c.33131T>A (p.Leu11044Gln)
c.32756T>A (p.Leu10919Gln)
c.59951T>A (p.Leu19984Gln)
c.55028T>A (p.Leu18343Gln)
n.597-5728A>T
n.3364+554A>T
c.59048T>A (p.Leu19683Gln)
c.32942T>A (p.Leu10981Gln)
c.32801T>A (p.Leu10934Gln)
c.58844T>A (p.Leu19615Gln)
c.54242T>A (p.Leu18081Gln)
c.54239T>A (p.Leu18080Gln)
c.51281T>A (p.Leu17094Gln)
c.32897T>A (p.Leu10966Gln)
c.54392T>A (p.Leu18131Gln)
c.54389T>A (p.Leu18130Gln)
c.53822T>A (p.Leu17941Gln)
c.51164T>A (p.Leu17055Gln)
c.51083T>A (p.Leu17028Gln)
c.32846T>A (p.Leu10949Gln)
c.22700T>A (p.Leu7567Gln)
2g.178591869G>ACA1992569TTN,TTN-AS1c.52246C>T (p.Leu17416=)
c.33331C>T (p.Leu11111=)
c.33130C>T (p.Leu11044=)
c.32755C>T (p.Leu10919=)
c.59950C>T (p.Leu19984=)
c.55027C>T (p.Leu18343=)
n.597-5727G>A
n.3364+555G>A
c.59047C>T (p.Leu19683=)
c.32941C>T (p.Leu10981=)
c.32800C>T (p.Leu10934=)
c.58843C>T (p.Leu19615=)
c.54241C>T (p.Leu18081=)
c.54238C>T (p.Leu18080=)
c.51280C>T (p.Leu17094=)
c.32896C>T (p.Leu10966=)
c.54391C>T (p.Leu18131=)
c.54388C>T (p.Leu18130=)
c.53821C>T (p.Leu17941=)
c.51163C>T (p.Leu17055=)
c.51082C>T (p.Leu17028=)
c.32845C>T (p.Leu10949=)
c.22699C>T (p.Leu7567=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178591869G>CCA60970203TTN,TTN-AS1c.52246C>G (p.Leu17416Val)
c.33331C>G (p.Leu11111Val)
c.33130C>G (p.Leu11044Val)
c.32755C>G (p.Leu10919Val)
c.59950C>G (p.Leu19984Val)
c.55027C>G (p.Leu18343Val)
n.597-5727G>C
n.3364+555G>C
c.59047C>G (p.Leu19683Val)
c.32941C>G (p.Leu10981Val)
c.32800C>G (p.Leu10934Val)
c.58843C>G (p.Leu19615Val)
c.54241C>G (p.Leu18081Val)
c.54238C>G (p.Leu18080Val)
c.51280C>G (p.Leu17094Val)
c.32896C>G (p.Leu10966Val)
c.54391C>G (p.Leu18131Val)
c.54388C>G (p.Leu18130Val)
c.53821C>G (p.Leu17941Val)
c.51163C>G (p.Leu17055Val)
c.51082C>G (p.Leu17028Val)
c.32845C>G (p.Leu10949Val)
c.22699C>G (p.Leu7567Val)
 dbSNP
2g.178591869G=CA1310540434TTN,TTN-AS1c.52246C= (p.Leu17416=)
c.33331C= (p.Leu11111=)
c.33130C= (p.Leu11044=)
c.32755C= (p.Leu10919=)
c.59950C= (p.Leu19984=)
c.55027C= (p.Leu18343=)
n.597-5727G=
n.3364+555G=
c.59047C= (p.Leu19683=)
c.32941C= (p.Leu10981=)
c.32800C= (p.Leu10934=)
c.58843C= (p.Leu19615=)
c.54241C= (p.Leu18081=)
c.54238C= (p.Leu18080=)
c.51280C= (p.Leu17094=)
c.32896C= (p.Leu10966=)
c.54391C= (p.Leu18131=)
c.54388C= (p.Leu18130=)
c.53821C= (p.Leu17941=)
c.51163C= (p.Leu17055=)
c.51082C= (p.Leu17028=)
c.32845C= (p.Leu10949=)
c.22699C= (p.Leu7567=)
2g.178591869G>TCA349488354TTN,TTN-AS1c.52246C>A (p.Leu17416Met)
c.33331C>A (p.Leu11111Met)
c.33130C>A (p.Leu11044Met)
c.32755C>A (p.Leu10919Met)
c.59950C>A (p.Leu19984Met)
c.55027C>A (p.Leu18343Met)
n.597-5727G>T
n.3364+555G>T
c.59047C>A (p.Leu19683Met)
c.32941C>A (p.Leu10981Met)
c.32800C>A (p.Leu10934Met)
c.58843C>A (p.Leu19615Met)
c.54241C>A (p.Leu18081Met)
c.54238C>A (p.Leu18080Met)
c.51280C>A (p.Leu17094Met)
c.32896C>A (p.Leu10966Met)
c.54391C>A (p.Leu18131Met)
c.54388C>A (p.Leu18130Met)
c.53821C>A (p.Leu17941Met)
c.51163C>A (p.Leu17055Met)
c.51082C>A (p.Leu17028Met)
c.32845C>A (p.Leu10949Met)
c.22699C>A (p.Leu7567Met)
 gnomAD v4
2g.178591870G>ACA430267302TTN,TTN-AS1c.52245C>T (p.Asp17415=)
c.33330C>T (p.Asp11110=)
c.33129C>T (p.Asp11043=)
c.32754C>T (p.Asp10918=)
c.59949C>T (p.Asp19983=)
c.55026C>T (p.Asp18342=)
n.597-5726G>A
n.3364+556G>A
c.59046C>T (p.Asp19682=)
c.32940C>T (p.Asp10980=)
c.32799C>T (p.Asp10933=)
c.58842C>T (p.Asp19614=)
c.54240C>T (p.Asp18080=)
c.54237C>T (p.Asp18079=)
c.51279C>T (p.Asp17093=)
c.32895C>T (p.Asp10965=)
c.54390C>T (p.Asp18130=)
c.54387C>T (p.Asp18129=)
c.53820C>T (p.Asp17940=)
c.51162C>T (p.Asp17054=)
c.51081C>T (p.Asp17027=)
c.32844C>T (p.Asp10948=)
c.22698C>T (p.Asp7566=)
2g.178591870G>CCA349488357TTN,TTN-AS1c.52245C>G (p.Asp17415Glu)
c.33330C>G (p.Asp11110Glu)
c.33129C>G (p.Asp11043Glu)
c.32754C>G (p.Asp10918Glu)
c.59949C>G (p.Asp19983Glu)
c.55026C>G (p.Asp18342Glu)
n.597-5726G>C
n.3364+556G>C
c.59046C>G (p.Asp19682Glu)
c.32940C>G (p.Asp10980Glu)
c.32799C>G (p.Asp10933Glu)
c.58842C>G (p.Asp19614Glu)
c.54240C>G (p.Asp18080Glu)
c.54237C>G (p.Asp18079Glu)
c.51279C>G (p.Asp17093Glu)
c.32895C>G (p.Asp10965Glu)
c.54390C>G (p.Asp18130Glu)
c.54387C>G (p.Asp18129Glu)
c.53820C>G (p.Asp17940Glu)
c.51162C>G (p.Asp17054Glu)
c.51081C>G (p.Asp17027Glu)
c.32844C>G (p.Asp10948Glu)
c.22698C>G (p.Asp7566Glu)
2g.178591870G>TCA349488363TTN,TTN-AS1c.52245C>A (p.Asp17415Glu)
c.33330C>A (p.Asp11110Glu)
c.33129C>A (p.Asp11043Glu)
c.32754C>A (p.Asp10918Glu)
c.59949C>A (p.Asp19983Glu)
c.55026C>A (p.Asp18342Glu)
n.597-5726G>T
n.3364+556G>T
c.59046C>A (p.Asp19682Glu)
c.32940C>A (p.Asp10980Glu)
c.32799C>A (p.Asp10933Glu)
c.58842C>A (p.Asp19614Glu)
c.54240C>A (p.Asp18080Glu)
c.54237C>A (p.Asp18079Glu)
c.51279C>A (p.Asp17093Glu)
c.32895C>A (p.Asp10965Glu)
c.54390C>A (p.Asp18130Glu)
c.54387C>A (p.Asp18129Glu)
c.53820C>A (p.Asp17940Glu)
c.51162C>A (p.Asp17054Glu)
c.51081C>A (p.Asp17027Glu)
c.32844C>A (p.Asp10948Glu)
c.22698C>A (p.Asp7566Glu)
2g.178591871T>ACA349488374TTN,TTN-AS1c.52244A>T (p.Asp17415Val)
c.33329A>T (p.Asp11110Val)
c.33128A>T (p.Asp11043Val)
c.32753A>T (p.Asp10918Val)
c.59948A>T (p.Asp19983Val)
c.55025A>T (p.Asp18342Val)
n.597-5725T>A
n.3364+557T>A
c.59045A>T (p.Asp19682Val)
c.32939A>T (p.Asp10980Val)
c.32798A>T (p.Asp10933Val)
c.58841A>T (p.Asp19614Val)
c.54239A>T (p.Asp18080Val)
c.54236A>T (p.Asp18079Val)
c.51278A>T (p.Asp17093Val)
c.32894A>T (p.Asp10965Val)
c.54389A>T (p.Asp18130Val)
c.54386A>T (p.Asp18129Val)
c.53819A>T (p.Asp17940Val)
c.51161A>T (p.Asp17054Val)
c.51080A>T (p.Asp17027Val)
c.32843A>T (p.Asp10948Val)
c.22697A>T (p.Asp7566Val)
2g.178591871T>CCA349488376TTN,TTN-AS1c.52244A>G (p.Asp17415Gly)
c.33329A>G (p.Asp11110Gly)
c.33128A>G (p.Asp11043Gly)
c.32753A>G (p.Asp10918Gly)
c.59948A>G (p.Asp19983Gly)
c.55025A>G (p.Asp18342Gly)
n.597-5725T>C
n.3364+557T>C
c.59045A>G (p.Asp19682Gly)
c.32939A>G (p.Asp10980Gly)
c.32798A>G (p.Asp10933Gly)
c.58841A>G (p.Asp19614Gly)
c.54239A>G (p.Asp18080Gly)
c.54236A>G (p.Asp18079Gly)
c.51278A>G (p.Asp17093Gly)
c.32894A>G (p.Asp10965Gly)
c.54389A>G (p.Asp18130Gly)
c.54386A>G (p.Asp18129Gly)
c.53819A>G (p.Asp17940Gly)
c.51161A>G (p.Asp17054Gly)
c.51080A>G (p.Asp17027Gly)
c.32843A>G (p.Asp10948Gly)
c.22697A>G (p.Asp7566Gly)
2g.178591871T>GCA349488365TTN,TTN-AS1c.52244A>C (p.Asp17415Ala)
c.33329A>C (p.Asp11110Ala)
c.33128A>C (p.Asp11043Ala)
c.32753A>C (p.Asp10918Ala)
c.59948A>C (p.Asp19983Ala)
c.55025A>C (p.Asp18342Ala)
n.597-5725T>G
n.3364+557T>G
c.59045A>C (p.Asp19682Ala)
c.32939A>C (p.Asp10980Ala)
c.32798A>C (p.Asp10933Ala)
c.58841A>C (p.Asp19614Ala)
c.54239A>C (p.Asp18080Ala)
c.54236A>C (p.Asp18079Ala)
c.51278A>C (p.Asp17093Ala)
c.32894A>C (p.Asp10965Ala)
c.54389A>C (p.Asp18130Ala)
c.54386A>C (p.Asp18129Ala)
c.53819A>C (p.Asp17940Ala)
c.51161A>C (p.Asp17054Ala)
c.51080A>C (p.Asp17027Ala)
c.32843A>C (p.Asp10948Ala)
c.22697A>C (p.Asp7566Ala)
2g.178591872C>ACA349488378TTN,TTN-AS1c.52243G>T (p.Asp17415Tyr)
c.33328G>T (p.Asp11110Tyr)
c.33127G>T (p.Asp11043Tyr)
c.32752G>T (p.Asp10918Tyr)
c.59947G>T (p.Asp19983Tyr)
c.55024G>T (p.Asp18342Tyr)
n.597-5724C>A
n.3364+558C>A
c.59044G>T (p.Asp19682Tyr)
c.32938G>T (p.Asp10980Tyr)
c.32797G>T (p.Asp10933Tyr)
c.58840G>T (p.Asp19614Tyr)
c.54238G>T (p.Asp18080Tyr)
c.54235G>T (p.Asp18079Tyr)
c.51277G>T (p.Asp17093Tyr)
c.32893G>T (p.Asp10965Tyr)
c.54388G>T (p.Asp18130Tyr)
c.54385G>T (p.Asp18129Tyr)
c.53818G>T (p.Asp17940Tyr)
c.51160G>T (p.Asp17054Tyr)
c.51079G>T (p.Asp17027Tyr)
c.32842G>T (p.Asp10948Tyr)
c.22696G>T (p.Asp7566Tyr)
2g.178591872C>GCA349488379TTN,TTN-AS1c.52243G>C (p.Asp17415His)
c.33328G>C (p.Asp11110His)
c.33127G>C (p.Asp11043His)
c.32752G>C (p.Asp10918His)
c.59947G>C (p.Asp19983His)
c.55024G>C (p.Asp18342His)
n.597-5724C>G
n.3364+558C>G
c.59044G>C (p.Asp19682His)
c.32938G>C (p.Asp10980His)
c.32797G>C (p.Asp10933His)
c.58840G>C (p.Asp19614His)
c.54238G>C (p.Asp18080His)
c.54235G>C (p.Asp18079His)
c.51277G>C (p.Asp17093His)
c.32893G>C (p.Asp10965His)
c.54388G>C (p.Asp18130His)
c.54385G>C (p.Asp18129His)
c.53818G>C (p.Asp17940His)
c.51160G>C (p.Asp17054His)
c.51079G>C (p.Asp17027His)
c.32842G>C (p.Asp10948His)
c.22696G>C (p.Asp7566His)
2g.178591872C>TCA349488381TTN,TTN-AS1c.52243G>A (p.Asp17415Asn)
c.33328G>A (p.Asp11110Asn)
c.33127G>A (p.Asp11043Asn)
c.32752G>A (p.Asp10918Asn)
c.59947G>A (p.Asp19983Asn)
c.55024G>A (p.Asp18342Asn)
n.597-5724C>T
n.3364+558C>T
c.59044G>A (p.Asp19682Asn)
c.32938G>A (p.Asp10980Asn)
c.32797G>A (p.Asp10933Asn)
c.58840G>A (p.Asp19614Asn)
c.54238G>A (p.Asp18080Asn)
c.54235G>A (p.Asp18079Asn)
c.51277G>A (p.Asp17093Asn)
c.32893G>A (p.Asp10965Asn)
c.54388G>A (p.Asp18130Asn)
c.54385G>A (p.Asp18129Asn)
c.53818G>A (p.Asp17940Asn)
c.51160G>A (p.Asp17054Asn)
c.51079G>A (p.Asp17027Asn)
c.32842G>A (p.Asp10948Asn)
c.22696G>A (p.Asp7566Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178591873C>ACA349488384TTN,TTN-AS1c.52242G>T (p.Lys17414Asn)
c.33327G>T (p.Lys11109Asn)
c.33126G>T (p.Lys11042Asn)
c.32751G>T (p.Lys10917Asn)
c.59946G>T (p.Lys19982Asn)
c.55023G>T (p.Lys18341Asn)
n.597-5723C>A
n.3364+559C>A
c.59043G>T (p.Lys19681Asn)
c.32937G>T (p.Lys10979Asn)
c.32796G>T (p.Lys10932Asn)
c.58839G>T (p.Lys19613Asn)
c.54237G>T (p.Lys18079Asn)
c.54234G>T (p.Lys18078Asn)
c.51276G>T (p.Lys17092Asn)
c.32892G>T (p.Lys10964Asn)
c.54387G>T (p.Lys18129Asn)
c.54384G>T (p.Lys18128Asn)
c.53817G>T (p.Lys17939Asn)
c.51159G>T (p.Lys17053Asn)
c.51078G>T (p.Lys17026Asn)
c.32841G>T (p.Lys10947Asn)
c.22695G>T (p.Lys7565Asn)
 dbSNP
2g.178591873C=CA1310540436TTN,TTN-AS1c.52242G= (p.Lys17414=)
c.33327G= (p.Lys11109=)
c.33126G= (p.Lys11042=)
c.32751G= (p.Lys10917=)
c.59946G= (p.Lys19982=)
c.55023G= (p.Lys18341=)
n.597-5723C=
n.3364+559C=
c.59043G= (p.Lys19681=)
c.32937G= (p.Lys10979=)
c.32796G= (p.Lys10932=)
c.58839G= (p.Lys19613=)
c.54237G= (p.Lys18079=)
c.54234G= (p.Lys18078=)
c.51276G= (p.Lys17092=)
c.32892G= (p.Lys10964=)
c.54387G= (p.Lys18129=)
c.54384G= (p.Lys18128=)
c.53817G= (p.Lys17939=)
c.51159G= (p.Lys17053=)
c.51078G= (p.Lys17026=)
c.32841G= (p.Lys10947=)
c.22695G= (p.Lys7565=)
2g.178591873C>GCA349488394TTN,TTN-AS1c.52242G>C (p.Lys17414Asn)
c.33327G>C (p.Lys11109Asn)
c.33126G>C (p.Lys11042Asn)
c.32751G>C (p.Lys10917Asn)
c.59946G>C (p.Lys19982Asn)
c.55023G>C (p.Lys18341Asn)
n.597-5723C>G
n.3364+559C>G
c.59043G>C (p.Lys19681Asn)
c.32937G>C (p.Lys10979Asn)
c.32796G>C (p.Lys10932Asn)
c.58839G>C (p.Lys19613Asn)
c.54237G>C (p.Lys18079Asn)
c.54234G>C (p.Lys18078Asn)
c.51276G>C (p.Lys17092Asn)
c.32892G>C (p.Lys10964Asn)
c.54387G>C (p.Lys18129Asn)
c.54384G>C (p.Lys18128Asn)
c.53817G>C (p.Lys17939Asn)
c.51159G>C (p.Lys17053Asn)
c.51078G>C (p.Lys17026Asn)
c.32841G>C (p.Lys10947Asn)
c.22695G>C (p.Lys7565Asn)
2g.178591873C>TCA1992570TTN,TTN-AS1c.52242G>A (p.Lys17414=)
c.33327G>A (p.Lys11109=)
c.33126G>A (p.Lys11042=)
c.32751G>A (p.Lys10917=)
c.59946G>A (p.Lys19982=)
c.55023G>A (p.Lys18341=)
n.597-5723C>T
n.3364+559C>T
c.59043G>A (p.Lys19681=)
c.32937G>A (p.Lys10979=)
c.32796G>A (p.Lys10932=)
c.58839G>A (p.Lys19613=)
c.54237G>A (p.Lys18079=)
c.54234G>A (p.Lys18078=)
c.51276G>A (p.Lys17092=)
c.32892G>A (p.Lys10964=)
c.54387G>A (p.Lys18129=)
c.54384G>A (p.Lys18128=)
c.53817G>A (p.Lys17939=)
c.51159G>A (p.Lys17053=)
c.51078G>A (p.Lys17026=)
c.32841G>A (p.Lys10947=)
c.22695G>A (p.Lys7565=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178591874T>ACA349488400TTN,TTN-AS1c.52241A>T (p.Lys17414Met)
c.33326A>T (p.Lys11109Met)
c.33125A>T (p.Lys11042Met)
c.32750A>T (p.Lys10917Met)
c.59945A>T (p.Lys19982Met)
c.55022A>T (p.Lys18341Met)
n.597-5722T>A
n.3364+560T>A
c.59042A>T (p.Lys19681Met)
c.32936A>T (p.Lys10979Met)
c.32795A>T (p.Lys10932Met)
c.58838A>T (p.Lys19613Met)
c.54236A>T (p.Lys18079Met)
c.54233A>T (p.Lys18078Met)
c.51275A>T (p.Lys17092Met)
c.32891A>T (p.Lys10964Met)
c.54386A>T (p.Lys18129Met)
c.54383A>T (p.Lys18128Met)
c.53816A>T (p.Lys17939Met)
c.51158A>T (p.Lys17053Met)
c.51077A>T (p.Lys17026Met)
c.32840A>T (p.Lys10947Met)
c.22694A>T (p.Lys7565Met)
2g.178591874T>CCA349488407TTN,TTN-AS1c.52241A>G (p.Lys17414Arg)
c.33326A>G (p.Lys11109Arg)
c.33125A>G (p.Lys11042Arg)
c.32750A>G (p.Lys10917Arg)
c.59945A>G (p.Lys19982Arg)
c.55022A>G (p.Lys18341Arg)
n.597-5722T>C
n.3364+560T>C
c.59042A>G (p.Lys19681Arg)
c.32936A>G (p.Lys10979Arg)
c.32795A>G (p.Lys10932Arg)
c.58838A>G (p.Lys19613Arg)
c.54236A>G (p.Lys18079Arg)
c.54233A>G (p.Lys18078Arg)
c.51275A>G (p.Lys17092Arg)
c.32891A>G (p.Lys10964Arg)
c.54386A>G (p.Lys18129Arg)
c.54383A>G (p.Lys18128Arg)
c.53816A>G (p.Lys17939Arg)
c.51158A>G (p.Lys17053Arg)
c.51077A>G (p.Lys17026Arg)
c.32840A>G (p.Lys10947Arg)
c.22694A>G (p.Lys7565Arg)
2g.178591874T>GCA349488410TTN,TTN-AS1c.52241A>C (p.Lys17414Thr)
c.33326A>C (p.Lys11109Thr)
c.33125A>C (p.Lys11042Thr)
c.32750A>C (p.Lys10917Thr)
c.59945A>C (p.Lys19982Thr)
c.55022A>C (p.Lys18341Thr)
n.597-5722T>G
n.3364+560T>G
c.59042A>C (p.Lys19681Thr)
c.32936A>C (p.Lys10979Thr)
c.32795A>C (p.Lys10932Thr)
c.58838A>C (p.Lys19613Thr)
c.54236A>C (p.Lys18079Thr)
c.54233A>C (p.Lys18078Thr)
c.51275A>C (p.Lys17092Thr)
c.32891A>C (p.Lys10964Thr)
c.54386A>C (p.Lys18129Thr)
c.54383A>C (p.Lys18128Thr)
c.53816A>C (p.Lys17939Thr)
c.51158A>C (p.Lys17053Thr)
c.51077A>C (p.Lys17026Thr)
c.32840A>C (p.Lys10947Thr)
c.22694A>C (p.Lys7565Thr)
2g.178591875T>ACA349488412TTN,TTN-AS1c.52240A>T (p.Lys17414Ter)
c.33325A>T (p.Lys11109Ter)
c.33124A>T (p.Lys11042Ter)
c.32749A>T (p.Lys10917Ter)
c.59944A>T (p.Lys19982Ter)
c.55021A>T (p.Lys18341Ter)
n.597-5721T>A
n.3364+561T>A
c.59041A>T (p.Lys19681Ter)
c.32935A>T (p.Lys10979Ter)
c.32794A>T (p.Lys10932Ter)
c.58837A>T (p.Lys19613Ter)
c.54235A>T (p.Lys18079Ter)
c.54232A>T (p.Lys18078Ter)
c.51274A>T (p.Lys17092Ter)
c.32890A>T (p.Lys10964Ter)
c.54385A>T (p.Lys18129Ter)
c.54382A>T (p.Lys18128Ter)
c.53815A>T (p.Lys17939Ter)
c.51157A>T (p.Lys17053Ter)
c.51076A>T (p.Lys17026Ter)
c.32839A>T (p.Lys10947Ter)
c.22693A>T (p.Lys7565Ter)
2g.178591875T>CCA349488413TTN,TTN-AS1c.52240A>G (p.Lys17414Glu)
c.33325A>G (p.Lys11109Glu)
c.33124A>G (p.Lys11042Glu)
c.32749A>G (p.Lys10917Glu)
c.59944A>G (p.Lys19982Glu)
c.55021A>G (p.Lys18341Glu)
n.597-5721T>C
n.3364+561T>C
c.59041A>G (p.Lys19681Glu)
c.32935A>G (p.Lys10979Glu)
c.32794A>G (p.Lys10932Glu)
c.58837A>G (p.Lys19613Glu)
c.54235A>G (p.Lys18079Glu)
c.54232A>G (p.Lys18078Glu)
c.51274A>G (p.Lys17092Glu)
c.32890A>G (p.Lys10964Glu)
c.54385A>G (p.Lys18129Glu)
c.54382A>G (p.Lys18128Glu)
c.53815A>G (p.Lys17939Glu)
c.51157A>G (p.Lys17053Glu)
c.51076A>G (p.Lys17026Glu)
c.32839A>G (p.Lys10947Glu)
c.22693A>G (p.Lys7565Glu)
2g.178591875T>GCA349488416TTN,TTN-AS1c.52240A>C (p.Lys17414Gln)
c.33325A>C (p.Lys11109Gln)
c.33124A>C (p.Lys11042Gln)
c.32749A>C (p.Lys10917Gln)
c.59944A>C (p.Lys19982Gln)
c.55021A>C (p.Lys18341Gln)
n.597-5721T>G
n.3364+561T>G
c.59041A>C (p.Lys19681Gln)
c.32935A>C (p.Lys10979Gln)
c.32794A>C (p.Lys10932Gln)
c.58837A>C (p.Lys19613Gln)
c.54235A>C (p.Lys18079Gln)
c.54232A>C (p.Lys18078Gln)
c.51274A>C (p.Lys17092Gln)
c.32890A>C (p.Lys10964Gln)
c.54385A>C (p.Lys18129Gln)
c.54382A>C (p.Lys18128Gln)
c.53815A>C (p.Lys17939Gln)
c.51157A>C (p.Lys17053Gln)
c.51076A>C (p.Lys17026Gln)
c.32839A>C (p.Lys10947Gln)
c.22693A>C (p.Lys7565Gln)
2g.178591876G>ACA430266924TTN,TTN-AS1c.52239C>T (p.Pro17413=)
c.33324C>T (p.Pro11108=)
c.33123C>T (p.Pro11041=)
c.32748C>T (p.Pro10916=)
c.59943C>T (p.Pro19981=)
c.55020C>T (p.Pro18340=)
n.597-5720G>A
n.3364+562G>A
c.59040C>T (p.Pro19680=)
c.32934C>T (p.Pro10978=)
c.32793C>T (p.Pro10931=)
c.58836C>T (p.Pro19612=)
c.54234C>T (p.Pro18078=)
c.54231C>T (p.Pro18077=)
c.51273C>T (p.Pro17091=)
c.32889C>T (p.Pro10963=)
c.54384C>T (p.Pro18128=)
c.54381C>T (p.Pro18127=)
c.53814C>T (p.Pro17938=)
c.51156C>T (p.Pro17052=)
c.51075C>T (p.Pro17025=)
c.32838C>T (p.Pro10946=)
c.22692C>T (p.Pro7564=)
 ClinVar
2g.178591876G>CCA430266927TTN,TTN-AS1c.52239C>G (p.Pro17413=)
c.33324C>G (p.Pro11108=)
c.33123C>G (p.Pro11041=)
c.32748C>G (p.Pro10916=)
c.59943C>G (p.Pro19981=)
c.55020C>G (p.Pro18340=)
n.597-5720G>C
n.3364+562G>C
c.59040C>G (p.Pro19680=)
c.32934C>G (p.Pro10978=)
c.32793C>G (p.Pro10931=)
c.58836C>G (p.Pro19612=)
c.54234C>G (p.Pro18078=)
c.54231C>G (p.Pro18077=)
c.51273C>G (p.Pro17091=)
c.32889C>G (p.Pro10963=)
c.54384C>G (p.Pro18128=)
c.54381C>G (p.Pro18127=)
c.53814C>G (p.Pro17938=)
c.51156C>G (p.Pro17052=)
c.51075C>G (p.Pro17025=)
c.32838C>G (p.Pro10946=)
c.22692C>G (p.Pro7564=)
 gnomAD v4
2g.178591876G=CA1310540439TTN,TTN-AS1c.52239C= (p.Pro17413=)
c.33324C= (p.Pro11108=)
c.33123C= (p.Pro11041=)
c.32748C= (p.Pro10916=)
c.59943C= (p.Pro19981=)
c.55020C= (p.Pro18340=)
n.597-5720G=
n.3364+562G=
c.59040C= (p.Pro19680=)
c.32934C= (p.Pro10978=)
c.32793C= (p.Pro10931=)
c.58836C= (p.Pro19612=)
c.54234C= (p.Pro18078=)
c.54231C= (p.Pro18077=)
c.51273C= (p.Pro17091=)
c.32889C= (p.Pro10963=)
c.54384C= (p.Pro18128=)
c.54381C= (p.Pro18127=)
c.53814C= (p.Pro17938=)
c.51156C= (p.Pro17052=)
c.51075C= (p.Pro17025=)
c.32838C= (p.Pro10946=)
c.22692C= (p.Pro7564=)
2g.178591876G>TCA140161TTN,TTN-AS1c.52239C>A (p.Pro17413=)
c.33324C>A (p.Pro11108=)
c.33123C>A (p.Pro11041=)
c.32748C>A (p.Pro10916=)
c.59943C>A (p.Pro19981=)
c.55020C>A (p.Pro18340=)
n.597-5720G>T
n.3364+562G>T
c.59040C>A (p.Pro19680=)
c.32934C>A (p.Pro10978=)
c.32793C>A (p.Pro10931=)
c.58836C>A (p.Pro19612=)
c.54234C>A (p.Pro18078=)
c.54231C>A (p.Pro18077=)
c.51273C>A (p.Pro17091=)
c.32889C>A (p.Pro10963=)
c.54384C>A (p.Pro18128=)
c.54381C>A (p.Pro18127=)
c.53814C>A (p.Pro17938=)
c.51156C>A (p.Pro17052=)
c.51075C>A (p.Pro17025=)
c.32838C>A (p.Pro10946=)
c.22692C>A (p.Pro7564=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591877G>ACA349488440TTN,TTN-AS1c.52238C>T (p.Pro17413Leu)
c.33323C>T (p.Pro11108Leu)
c.33122C>T (p.Pro11041Leu)
c.32747C>T (p.Pro10916Leu)
c.59942C>T (p.Pro19981Leu)
c.55019C>T (p.Pro18340Leu)
n.597-5719G>A
n.3364+563G>A
c.59039C>T (p.Pro19680Leu)
c.32933C>T (p.Pro10978Leu)
c.32792C>T (p.Pro10931Leu)
c.58835C>T (p.Pro19612Leu)
c.54233C>T (p.Pro18078Leu)
c.54230C>T (p.Pro18077Leu)
c.51272C>T (p.Pro17091Leu)
c.32888C>T (p.Pro10963Leu)
c.54383C>T (p.Pro18128Leu)
c.54380C>T (p.Pro18127Leu)
c.53813C>T (p.Pro17938Leu)
c.51155C>T (p.Pro17052Leu)
c.51074C>T (p.Pro17025Leu)
c.32837C>T (p.Pro10946Leu)
c.22691C>T (p.Pro7564Leu)
 gnomAD v4
2g.178591877G>CCA349488434TTN,TTN-AS1c.52238C>G (p.Pro17413Arg)
c.33323C>G (p.Pro11108Arg)
c.33122C>G (p.Pro11041Arg)
c.32747C>G (p.Pro10916Arg)
c.59942C>G (p.Pro19981Arg)
c.55019C>G (p.Pro18340Arg)
n.597-5719G>C
n.3364+563G>C
c.59039C>G (p.Pro19680Arg)
c.32933C>G (p.Pro10978Arg)
c.32792C>G (p.Pro10931Arg)
c.58835C>G (p.Pro19612Arg)
c.54233C>G (p.Pro18078Arg)
c.54230C>G (p.Pro18077Arg)
c.51272C>G (p.Pro17091Arg)
c.32888C>G (p.Pro10963Arg)
c.54383C>G (p.Pro18128Arg)
c.54380C>G (p.Pro18127Arg)
c.53813C>G (p.Pro17938Arg)
c.51155C>G (p.Pro17052Arg)
c.51074C>G (p.Pro17025Arg)
c.32837C>G (p.Pro10946Arg)
c.22691C>G (p.Pro7564Arg)
2g.178591877G>TCA349488424TTN,TTN-AS1c.52238C>A (p.Pro17413His)
c.33323C>A (p.Pro11108His)
c.33122C>A (p.Pro11041His)
c.32747C>A (p.Pro10916His)
c.59942C>A (p.Pro19981His)
c.55019C>A (p.Pro18340His)
n.597-5719G>T
n.3364+563G>T
c.59039C>A (p.Pro19680His)
c.32933C>A (p.Pro10978His)
c.32792C>A (p.Pro10931His)
c.58835C>A (p.Pro19612His)
c.54233C>A (p.Pro18078His)
c.54230C>A (p.Pro18077His)
c.51272C>A (p.Pro17091His)
c.32888C>A (p.Pro10963His)
c.54383C>A (p.Pro18128His)
c.54380C>A (p.Pro18127His)
c.53813C>A (p.Pro17938His)
c.51155C>A (p.Pro17052His)
c.51074C>A (p.Pro17025His)
c.32837C>A (p.Pro10946His)
c.22691C>A (p.Pro7564His)
2g.178591878G>ACA349488442TTN,TTN-AS1c.52237C>T (p.Pro17413Ser)
c.33322C>T (p.Pro11108Ser)
c.33121C>T (p.Pro11041Ser)
c.32746C>T (p.Pro10916Ser)
c.59941C>T (p.Pro19981Ser)
c.55018C>T (p.Pro18340Ser)
n.597-5718G>A
n.3364+564G>A
c.59038C>T (p.Pro19680Ser)
c.32932C>T (p.Pro10978Ser)
c.32791C>T (p.Pro10931Ser)
c.58834C>T (p.Pro19612Ser)
c.54232C>T (p.Pro18078Ser)
c.54229C>T (p.Pro18077Ser)
c.51271C>T (p.Pro17091Ser)
c.32887C>T (p.Pro10963Ser)
c.54382C>T (p.Pro18128Ser)
c.54379C>T (p.Pro18127Ser)
c.53812C>T (p.Pro17938Ser)
c.51154C>T (p.Pro17052Ser)
c.51073C>T (p.Pro17025Ser)
c.32836C>T (p.Pro10946Ser)
c.22690C>T (p.Pro7564Ser)
 dbSNP
2g.178591878G>CCA349488443TTN,TTN-AS1c.52237C>G (p.Pro17413Ala)
c.33322C>G (p.Pro11108Ala)
c.33121C>G (p.Pro11041Ala)
c.32746C>G (p.Pro10916Ala)
c.59941C>G (p.Pro19981Ala)
c.55018C>G (p.Pro18340Ala)
n.597-5718G>C
n.3364+564G>C
c.59038C>G (p.Pro19680Ala)
c.32932C>G (p.Pro10978Ala)
c.32791C>G (p.Pro10931Ala)
c.58834C>G (p.Pro19612Ala)
c.54232C>G (p.Pro18078Ala)
c.54229C>G (p.Pro18077Ala)
c.51271C>G (p.Pro17091Ala)
c.32887C>G (p.Pro10963Ala)
c.54382C>G (p.Pro18128Ala)
c.54379C>G (p.Pro18127Ala)
c.53812C>G (p.Pro17938Ala)
c.51154C>G (p.Pro17052Ala)
c.51073C>G (p.Pro17025Ala)
c.32836C>G (p.Pro10946Ala)
c.22690C>G (p.Pro7564Ala)
2g.178591878G>TCA349488445TTN,TTN-AS1c.52237C>A (p.Pro17413Thr)
c.33322C>A (p.Pro11108Thr)
c.33121C>A (p.Pro11041Thr)
c.32746C>A (p.Pro10916Thr)
c.59941C>A (p.Pro19981Thr)
c.55018C>A (p.Pro18340Thr)
n.597-5718G>T
n.3364+564G>T
c.59038C>A (p.Pro19680Thr)
c.32932C>A (p.Pro10978Thr)
c.32791C>A (p.Pro10931Thr)
c.58834C>A (p.Pro19612Thr)
c.54232C>A (p.Pro18078Thr)
c.54229C>A (p.Pro18077Thr)
c.51271C>A (p.Pro17091Thr)
c.32887C>A (p.Pro10963Thr)
c.54382C>A (p.Pro18128Thr)
c.54379C>A (p.Pro18127Thr)
c.53812C>A (p.Pro17938Thr)
c.51154C>A (p.Pro17052Thr)
c.51073C>A (p.Pro17025Thr)
c.32836C>A (p.Pro10946Thr)
c.22690C>A (p.Pro7564Thr)
2g.178591879T>ACA430266933TTN,TTN-AS1c.52236A>T (p.Pro17412=)
c.33321A>T (p.Pro11107=)
c.33120A>T (p.Pro11040=)
c.32745A>T (p.Pro10915=)
c.59940A>T (p.Pro19980=)
c.55017A>T (p.Pro18339=)
n.597-5717T>A
n.3364+565T>A
c.59037A>T (p.Pro19679=)
c.32931A>T (p.Pro10977=)
c.32790A>T (p.Pro10930=)
c.58833A>T (p.Pro19611=)
c.54231A>T (p.Pro18077=)
c.54228A>T (p.Pro18076=)
c.51270A>T (p.Pro17090=)
c.32886A>T (p.Pro10962=)
c.54381A>T (p.Pro18127=)
c.54378A>T (p.Pro18126=)
c.53811A>T (p.Pro17937=)
c.51153A>T (p.Pro17051=)
c.51072A>T (p.Pro17024=)
c.32835A>T (p.Pro10945=)
c.22689A>T (p.Pro7563=)
2g.178591879T>CCA430266934TTN,TTN-AS1c.52236A>G (p.Pro17412=)
c.33321A>G (p.Pro11107=)
c.33120A>G (p.Pro11040=)
c.32745A>G (p.Pro10915=)
c.59940A>G (p.Pro19980=)
c.55017A>G (p.Pro18339=)
n.597-5717T>C
n.3364+565T>C
c.59037A>G (p.Pro19679=)
c.32931A>G (p.Pro10977=)
c.32790A>G (p.Pro10930=)
c.58833A>G (p.Pro19611=)
c.54231A>G (p.Pro18077=)
c.54228A>G (p.Pro18076=)
c.51270A>G (p.Pro17090=)
c.32886A>G (p.Pro10962=)
c.54381A>G (p.Pro18127=)
c.54378A>G (p.Pro18126=)
c.53811A>G (p.Pro17937=)
c.51153A>G (p.Pro17051=)
c.51072A>G (p.Pro17024=)
c.32835A>G (p.Pro10945=)
c.22689A>G (p.Pro7563=)
2g.178591879T>GCA430266935TTN,TTN-AS1c.52236A>C (p.Pro17412=)
c.33321A>C (p.Pro11107=)
c.33120A>C (p.Pro11040=)
c.32745A>C (p.Pro10915=)
c.59940A>C (p.Pro19980=)
c.55017A>C (p.Pro18339=)
n.597-5717T>G
n.3364+565T>G
c.59037A>C (p.Pro19679=)
c.32931A>C (p.Pro10977=)
c.32790A>C (p.Pro10930=)
c.58833A>C (p.Pro19611=)
c.54231A>C (p.Pro18077=)
c.54228A>C (p.Pro18076=)
c.51270A>C (p.Pro17090=)
c.32886A>C (p.Pro10962=)
c.54381A>C (p.Pro18127=)
c.54378A>C (p.Pro18126=)
c.53811A>C (p.Pro17937=)
c.51153A>C (p.Pro17051=)
c.51072A>C (p.Pro17024=)
c.32835A>C (p.Pro10945=)
c.22689A>C (p.Pro7563=)
2g.178591880G>ACA349488448TTN,TTN-AS1c.52235C>T (p.Pro17412Leu)
c.33320C>T (p.Pro11107Leu)
c.33119C>T (p.Pro11040Leu)
c.32744C>T (p.Pro10915Leu)
c.59939C>T (p.Pro19980Leu)
c.55016C>T (p.Pro18339Leu)
n.597-5716G>A
n.3364+566G>A
c.59036C>T (p.Pro19679Leu)
c.32930C>T (p.Pro10977Leu)
c.32789C>T (p.Pro10930Leu)
c.58832C>T (p.Pro19611Leu)
c.54230C>T (p.Pro18077Leu)
c.54227C>T (p.Pro18076Leu)
c.51269C>T (p.Pro17090Leu)
c.32885C>T (p.Pro10962Leu)
c.54380C>T (p.Pro18127Leu)
c.54377C>T (p.Pro18126Leu)
c.53810C>T (p.Pro17937Leu)
c.51152C>T (p.Pro17051Leu)
c.51071C>T (p.Pro17024Leu)
c.32834C>T (p.Pro10945Leu)
c.22688C>T (p.Pro7563Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178591880G>CCA349488450TTN,TTN-AS1c.52235C>G (p.Pro17412Arg)
c.33320C>G (p.Pro11107Arg)
c.33119C>G (p.Pro11040Arg)
c.32744C>G (p.Pro10915Arg)
c.59939C>G (p.Pro19980Arg)
c.55016C>G (p.Pro18339Arg)
n.597-5716G>C
n.3364+566G>C
c.59036C>G (p.Pro19679Arg)
c.32930C>G (p.Pro10977Arg)
c.32789C>G (p.Pro10930Arg)
c.58832C>G (p.Pro19611Arg)
c.54230C>G (p.Pro18077Arg)
c.54227C>G (p.Pro18076Arg)
c.51269C>G (p.Pro17090Arg)
c.32885C>G (p.Pro10962Arg)
c.54380C>G (p.Pro18127Arg)
c.54377C>G (p.Pro18126Arg)
c.53810C>G (p.Pro17937Arg)
c.51152C>G (p.Pro17051Arg)
c.51071C>G (p.Pro17024Arg)
c.32834C>G (p.Pro10945Arg)
c.22688C>G (p.Pro7563Arg)
2g.178591880G>TCA349488452TTN,TTN-AS1c.52235C>A (p.Pro17412Gln)
c.33320C>A (p.Pro11107Gln)
c.33119C>A (p.Pro11040Gln)
c.32744C>A (p.Pro10915Gln)
c.59939C>A (p.Pro19980Gln)
c.55016C>A (p.Pro18339Gln)
n.597-5716G>T
n.3364+566G>T
c.59036C>A (p.Pro19679Gln)
c.32930C>A (p.Pro10977Gln)
c.32789C>A (p.Pro10930Gln)
c.58832C>A (p.Pro19611Gln)
c.54230C>A (p.Pro18077Gln)
c.54227C>A (p.Pro18076Gln)
c.51269C>A (p.Pro17090Gln)
c.32885C>A (p.Pro10962Gln)
c.54380C>A (p.Pro18127Gln)
c.54377C>A (p.Pro18126Gln)
c.53810C>A (p.Pro17937Gln)
c.51152C>A (p.Pro17051Gln)
c.51071C>A (p.Pro17024Gln)
c.32834C>A (p.Pro10945Gln)
c.22688C>A (p.Pro7563Gln)
2g.178591881G>ACA349488461TTN,TTN-AS1c.52234C>T (p.Pro17412Ser)
c.33319C>T (p.Pro11107Ser)
c.33118C>T (p.Pro11040Ser)
c.32743C>T (p.Pro10915Ser)
c.59938C>T (p.Pro19980Ser)
c.55015C>T (p.Pro18339Ser)
n.597-5715G>A
n.3364+567G>A
c.59035C>T (p.Pro19679Ser)
c.32929C>T (p.Pro10977Ser)
c.32788C>T (p.Pro10930Ser)
c.58831C>T (p.Pro19611Ser)
c.54229C>T (p.Pro18077Ser)
c.54226C>T (p.Pro18076Ser)
c.51268C>T (p.Pro17090Ser)
c.32884C>T (p.Pro10962Ser)
c.54379C>T (p.Pro18127Ser)
c.54376C>T (p.Pro18126Ser)
c.53809C>T (p.Pro17937Ser)
c.51151C>T (p.Pro17051Ser)
c.51070C>T (p.Pro17024Ser)
c.32833C>T (p.Pro10945Ser)
c.22687C>T (p.Pro7563Ser)
2g.178591881G>CCA349488471TTN,TTN-AS1c.52234C>G (p.Pro17412Ala)
c.33319C>G (p.Pro11107Ala)
c.33118C>G (p.Pro11040Ala)
c.32743C>G (p.Pro10915Ala)
c.59938C>G (p.Pro19980Ala)
c.55015C>G (p.Pro18339Ala)
n.597-5715G>C
n.3364+567G>C
c.59035C>G (p.Pro19679Ala)
c.32929C>G (p.Pro10977Ala)
c.32788C>G (p.Pro10930Ala)
c.58831C>G (p.Pro19611Ala)
c.54229C>G (p.Pro18077Ala)
c.54226C>G (p.Pro18076Ala)
c.51268C>G (p.Pro17090Ala)
c.32884C>G (p.Pro10962Ala)
c.54379C>G (p.Pro18127Ala)
c.54376C>G (p.Pro18126Ala)
c.53809C>G (p.Pro17937Ala)
c.51151C>G (p.Pro17051Ala)
c.51070C>G (p.Pro17024Ala)
c.32833C>G (p.Pro10945Ala)
c.22687C>G (p.Pro7563Ala)
 gnomAD v4
2g.178591881G>TCA349488474TTN,TTN-AS1c.52234C>A (p.Pro17412Thr)
c.33319C>A (p.Pro11107Thr)
c.33118C>A (p.Pro11040Thr)
c.32743C>A (p.Pro10915Thr)
c.59938C>A (p.Pro19980Thr)
c.55015C>A (p.Pro18339Thr)
n.597-5715G>T
n.3364+567G>T
c.59035C>A (p.Pro19679Thr)
c.32929C>A (p.Pro10977Thr)
c.32788C>A (p.Pro10930Thr)
c.58831C>A (p.Pro19611Thr)
c.54229C>A (p.Pro18077Thr)
c.54226C>A (p.Pro18076Thr)
c.51268C>A (p.Pro17090Thr)
c.32884C>A (p.Pro10962Thr)
c.54379C>A (p.Pro18127Thr)
c.54376C>A (p.Pro18126Thr)
c.53809C>A (p.Pro17937Thr)
c.51151C>A (p.Pro17051Thr)
c.51070C>A (p.Pro17024Thr)
c.32833C>A (p.Pro10945Thr)
c.22687C>A (p.Pro7563Thr)
2g.178591882C>ACA430266946TTN,TTN-AS1c.52233G>T (p.Gly17411=)
c.33318G>T (p.Gly11106=)
c.33117G>T (p.Gly11039=)
c.32742G>T (p.Gly10914=)
c.59937G>T (p.Gly19979=)
c.55014G>T (p.Gly18338=)
n.597-5714C>A
n.3364+568C>A
c.59034G>T (p.Gly19678=)
c.32928G>T (p.Gly10976=)
c.32787G>T (p.Gly10929=)
c.58830G>T (p.Gly19610=)
c.54228G>T (p.Gly18076=)
c.54225G>T (p.Gly18075=)
c.51267G>T (p.Gly17089=)
c.32883G>T (p.Gly10961=)
c.54378G>T (p.Gly18126=)
c.54375G>T (p.Gly18125=)
c.53808G>T (p.Gly17936=)
c.51150G>T (p.Gly17050=)
c.51069G>T (p.Gly17023=)
c.32832G>T (p.Gly10944=)
c.22686G>T (p.Gly7562=)
 ClinVar
2g.178591882C=CA1310540441TTN,TTN-AS1c.52233G= (p.Gly17411=)
c.33318G= (p.Gly11106=)
c.33117G= (p.Gly11039=)
c.32742G= (p.Gly10914=)
c.59937G= (p.Gly19979=)
c.55014G= (p.Gly18338=)
n.597-5714C=
n.3364+568C=
c.59034G= (p.Gly19678=)
c.32928G= (p.Gly10976=)
c.32787G= (p.Gly10929=)
c.58830G= (p.Gly19610=)
c.54228G= (p.Gly18076=)
c.54225G= (p.Gly18075=)
c.51267G= (p.Gly17089=)
c.32883G= (p.Gly10961=)
c.54378G= (p.Gly18126=)
c.54375G= (p.Gly18125=)
c.53808G= (p.Gly17936=)
c.51150G= (p.Gly17050=)
c.51069G= (p.Gly17023=)
c.32832G= (p.Gly10944=)
c.22686G= (p.Gly7562=)
2g.178591882C>GCA430266945TTN,TTN-AS1c.52233G>C (p.Gly17411=)
c.33318G>C (p.Gly11106=)
c.33117G>C (p.Gly11039=)
c.32742G>C (p.Gly10914=)
c.59937G>C (p.Gly19979=)
c.55014G>C (p.Gly18338=)
n.597-5714C>G
n.3364+568C>G
c.59034G>C (p.Gly19678=)
c.32928G>C (p.Gly10976=)
c.32787G>C (p.Gly10929=)
c.58830G>C (p.Gly19610=)
c.54228G>C (p.Gly18076=)
c.54225G>C (p.Gly18075=)
c.51267G>C (p.Gly17089=)
c.32883G>C (p.Gly10961=)
c.54378G>C (p.Gly18126=)
c.54375G>C (p.Gly18125=)
c.53808G>C (p.Gly17936=)
c.51150G>C (p.Gly17050=)
c.51069G>C (p.Gly17023=)
c.32832G>C (p.Gly10944=)
c.22686G>C (p.Gly7562=)
2g.178591882C>TCA185068TTN,TTN-AS1c.52233G>A (p.Gly17411=)
c.33318G>A (p.Gly11106=)
c.33117G>A (p.Gly11039=)
c.32742G>A (p.Gly10914=)
c.59937G>A (p.Gly19979=)
c.55014G>A (p.Gly18338=)
n.597-5714C>T
n.3364+568C>T
c.59034G>A (p.Gly19678=)
c.32928G>A (p.Gly10976=)
c.32787G>A (p.Gly10929=)
c.58830G>A (p.Gly19610=)
c.54228G>A (p.Gly18076=)
c.54225G>A (p.Gly18075=)
c.51267G>A (p.Gly17089=)
c.32883G>A (p.Gly10961=)
c.54378G>A (p.Gly18126=)
c.54375G>A (p.Gly18125=)
c.53808G>A (p.Gly17936=)
c.51150G>A (p.Gly17050=)
c.51069G>A (p.Gly17023=)
c.32832G>A (p.Gly10944=)
c.22686G>A (p.Gly7562=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591883C>ACA349488478TTN,TTN-AS1c.52232G>T (p.Gly17411Val)
c.33317G>T (p.Gly11106Val)
c.33116G>T (p.Gly11039Val)
c.32741G>T (p.Gly10914Val)
c.59936G>T (p.Gly19979Val)
c.55013G>T (p.Gly18338Val)
n.597-5713C>A
n.3364+569C>A
c.59033G>T (p.Gly19678Val)
c.32927G>T (p.Gly10976Val)
c.32786G>T (p.Gly10929Val)
c.58829G>T (p.Gly19610Val)
c.54227G>T (p.Gly18076Val)
c.54224G>T (p.Gly18075Val)
c.51266G>T (p.Gly17089Val)
c.32882G>T (p.Gly10961Val)
c.54377G>T (p.Gly18126Val)
c.54374G>T (p.Gly18125Val)
c.53807G>T (p.Gly17936Val)
c.51149G>T (p.Gly17050Val)
c.51068G>T (p.Gly17023Val)
c.32831G>T (p.Gly10944Val)
c.22685G>T (p.Gly7562Val)
2g.178591883C>GCA349488479TTN,TTN-AS1c.52232G>C (p.Gly17411Ala)
c.33317G>C (p.Gly11106Ala)
c.33116G>C (p.Gly11039Ala)
c.32741G>C (p.Gly10914Ala)
c.59936G>C (p.Gly19979Ala)
c.55013G>C (p.Gly18338Ala)
n.597-5713C>G
n.3364+569C>G
c.59033G>C (p.Gly19678Ala)
c.32927G>C (p.Gly10976Ala)
c.32786G>C (p.Gly10929Ala)
c.58829G>C (p.Gly19610Ala)
c.54227G>C (p.Gly18076Ala)
c.54224G>C (p.Gly18075Ala)
c.51266G>C (p.Gly17089Ala)
c.32882G>C (p.Gly10961Ala)
c.54377G>C (p.Gly18126Ala)
c.54374G>C (p.Gly18125Ala)
c.53807G>C (p.Gly17936Ala)
c.51149G>C (p.Gly17050Ala)
c.51068G>C (p.Gly17023Ala)
c.32831G>C (p.Gly10944Ala)
c.22685G>C (p.Gly7562Ala)
2g.178591883C>TCA349488480TTN,TTN-AS1c.52232G>A (p.Gly17411Glu)
c.33317G>A (p.Gly11106Glu)
c.33116G>A (p.Gly11039Glu)
c.32741G>A (p.Gly10914Glu)
c.59936G>A (p.Gly19979Glu)
c.55013G>A (p.Gly18338Glu)
n.597-5713C>T
n.3364+569C>T
c.59033G>A (p.Gly19678Glu)
c.32927G>A (p.Gly10976Glu)
c.32786G>A (p.Gly10929Glu)
c.58829G>A (p.Gly19610Glu)
c.54227G>A (p.Gly18076Glu)
c.54224G>A (p.Gly18075Glu)
c.51266G>A (p.Gly17089Glu)
c.32882G>A (p.Gly10961Glu)
c.54377G>A (p.Gly18126Glu)
c.54374G>A (p.Gly18125Glu)
c.53807G>A (p.Gly17936Glu)
c.51149G>A (p.Gly17050Glu)
c.51068G>A (p.Gly17023Glu)
c.32831G>A (p.Gly10944Glu)
c.22685G>A (p.Gly7562Glu)
2g.178591884C>ACA349488488TTN,TTN-AS1c.52231G>T (p.Gly17411Trp)
c.33316G>T (p.Gly11106Trp)
c.33115G>T (p.Gly11039Trp)
c.32740G>T (p.Gly10914Trp)
c.59935G>T (p.Gly19979Trp)
c.55012G>T (p.Gly18338Trp)
n.597-5712C>A
n.3364+570C>A
c.59032G>T (p.Gly19678Trp)
c.32926G>T (p.Gly10976Trp)
c.32785G>T (p.Gly10929Trp)
c.58828G>T (p.Gly19610Trp)
c.54226G>T (p.Gly18076Trp)
c.54223G>T (p.Gly18075Trp)
c.51265G>T (p.Gly17089Trp)
c.32881G>T (p.Gly10961Trp)
c.54376G>T (p.Gly18126Trp)
c.54373G>T (p.Gly18125Trp)
c.53806G>T (p.Gly17936Trp)
c.51148G>T (p.Gly17050Trp)
c.51067G>T (p.Gly17023Trp)
c.32830G>T (p.Gly10944Trp)
c.22684G>T (p.Gly7562Trp)
2g.178591884C>GCA349488486TTN,TTN-AS1c.52231G>C (p.Gly17411Arg)
c.33316G>C (p.Gly11106Arg)
c.33115G>C (p.Gly11039Arg)
c.32740G>C (p.Gly10914Arg)
c.59935G>C (p.Gly19979Arg)
c.55012G>C (p.Gly18338Arg)
n.597-5712C>G
n.3364+570C>G
c.59032G>C (p.Gly19678Arg)
c.32926G>C (p.Gly10976Arg)
c.32785G>C (p.Gly10929Arg)
c.58828G>C (p.Gly19610Arg)
c.54226G>C (p.Gly18076Arg)
c.54223G>C (p.Gly18075Arg)
c.51265G>C (p.Gly17089Arg)
c.32881G>C (p.Gly10961Arg)
c.54376G>C (p.Gly18126Arg)
c.54373G>C (p.Gly18125Arg)
c.53806G>C (p.Gly17936Arg)
c.51148G>C (p.Gly17050Arg)
c.51067G>C (p.Gly17023Arg)
c.32830G>C (p.Gly10944Arg)
c.22684G>C (p.Gly7562Arg)
2g.178591884C>TCA349488483TTN,TTN-AS1c.52231G>A (p.Gly17411Arg)
c.33316G>A (p.Gly11106Arg)
c.33115G>A (p.Gly11039Arg)
c.32740G>A (p.Gly10914Arg)
c.59935G>A (p.Gly19979Arg)
c.55012G>A (p.Gly18338Arg)
n.597-5712C>T
n.3364+570C>T
c.59032G>A (p.Gly19678Arg)
c.32926G>A (p.Gly10976Arg)
c.32785G>A (p.Gly10929Arg)
c.58828G>A (p.Gly19610Arg)
c.54226G>A (p.Gly18076Arg)
c.54223G>A (p.Gly18075Arg)
c.51265G>A (p.Gly17089Arg)
c.32881G>A (p.Gly10961Arg)
c.54376G>A (p.Gly18126Arg)
c.54373G>A (p.Gly18125Arg)
c.53806G>A (p.Gly17936Arg)
c.51148G>A (p.Gly17050Arg)
c.51067G>A (p.Gly17023Arg)
c.32830G>A (p.Gly10944Arg)
c.22684G>A (p.Gly7562Arg)
2g.178591885T>ACA430266951TTN,TTN-AS1c.52230A>T (p.Pro17410=)
c.33315A>T (p.Pro11105=)
c.33114A>T (p.Pro11038=)
c.32739A>T (p.Pro10913=)
c.59934A>T (p.Pro19978=)
c.55011A>T (p.Pro18337=)
n.597-5711T>A
n.3364+571T>A
c.59031A>T (p.Pro19677=)
c.32925A>T (p.Pro10975=)
c.32784A>T (p.Pro10928=)
c.58827A>T (p.Pro19609=)
c.54225A>T (p.Pro18075=)
c.54222A>T (p.Pro18074=)
c.51264A>T (p.Pro17088=)
c.32880A>T (p.Pro10960=)
c.54375A>T (p.Pro18125=)
c.54372A>T (p.Pro18124=)
c.53805A>T (p.Pro17935=)
c.51147A>T (p.Pro17049=)
c.51066A>T (p.Pro17022=)
c.32829A>T (p.Pro10943=)
c.22683A>T (p.Pro7561=)
2g.178591885T>CCA430266952TTN,TTN-AS1c.52230A>G (p.Pro17410=)
c.33315A>G (p.Pro11105=)
c.33114A>G (p.Pro11038=)
c.32739A>G (p.Pro10913=)
c.59934A>G (p.Pro19978=)
c.55011A>G (p.Pro18337=)
n.597-5711T>C
n.3364+571T>C
c.59031A>G (p.Pro19677=)
c.32925A>G (p.Pro10975=)
c.32784A>G (p.Pro10928=)
c.58827A>G (p.Pro19609=)
c.54225A>G (p.Pro18075=)
c.54222A>G (p.Pro18074=)
c.51264A>G (p.Pro17088=)
c.32880A>G (p.Pro10960=)
c.54375A>G (p.Pro18125=)
c.54372A>G (p.Pro18124=)
c.53805A>G (p.Pro17935=)
c.51147A>G (p.Pro17049=)
c.51066A>G (p.Pro17022=)
c.32829A>G (p.Pro10943=)
c.22683A>G (p.Pro7561=)
 ClinVar dbSNP
2g.178591885T>GCA430266953TTN,TTN-AS1c.52230A>C (p.Pro17410=)
c.33315A>C (p.Pro11105=)
c.33114A>C (p.Pro11038=)
c.32739A>C (p.Pro10913=)
c.59934A>C (p.Pro19978=)
c.55011A>C (p.Pro18337=)
n.597-5711T>G
n.3364+571T>G
c.59031A>C (p.Pro19677=)
c.32925A>C (p.Pro10975=)
c.32784A>C (p.Pro10928=)
c.58827A>C (p.Pro19609=)
c.54225A>C (p.Pro18075=)
c.54222A>C (p.Pro18074=)
c.51264A>C (p.Pro17088=)
c.32880A>C (p.Pro10960=)
c.54375A>C (p.Pro18125=)
c.54372A>C (p.Pro18124=)
c.53805A>C (p.Pro17935=)
c.51147A>C (p.Pro17049=)
c.51066A>C (p.Pro17022=)
c.32829A>C (p.Pro10943=)
c.22683A>C (p.Pro7561=)
2g.178591886G>ACA349488501TTN,TTN-AS1c.52229C>T (p.Pro17410Leu)
c.33314C>T (p.Pro11105Leu)
c.33113C>T (p.Pro11038Leu)
c.32738C>T (p.Pro10913Leu)
c.59933C>T (p.Pro19978Leu)
c.55010C>T (p.Pro18337Leu)
n.597-5710G>A
n.3364+572G>A
c.59030C>T (p.Pro19677Leu)
c.32924C>T (p.Pro10975Leu)
c.32783C>T (p.Pro10928Leu)
c.58826C>T (p.Pro19609Leu)
c.54224C>T (p.Pro18075Leu)
c.54221C>T (p.Pro18074Leu)
c.51263C>T (p.Pro17088Leu)
c.32879C>T (p.Pro10960Leu)
c.54374C>T (p.Pro18125Leu)
c.54371C>T (p.Pro18124Leu)
c.53804C>T (p.Pro17935Leu)
c.51146C>T (p.Pro17049Leu)
c.51065C>T (p.Pro17022Leu)
c.32828C>T (p.Pro10943Leu)
c.22682C>T (p.Pro7561Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178591886G>CCA349488492TTN,TTN-AS1c.52229C>G (p.Pro17410Arg)
c.33314C>G (p.Pro11105Arg)
c.33113C>G (p.Pro11038Arg)
c.32738C>G (p.Pro10913Arg)
c.59933C>G (p.Pro19978Arg)
c.55010C>G (p.Pro18337Arg)
n.597-5710G>C
n.3364+572G>C
c.59030C>G (p.Pro19677Arg)
c.32924C>G (p.Pro10975Arg)
c.32783C>G (p.Pro10928Arg)
c.58826C>G (p.Pro19609Arg)
c.54224C>G (p.Pro18075Arg)
c.54221C>G (p.Pro18074Arg)
c.51263C>G (p.Pro17088Arg)
c.32879C>G (p.Pro10960Arg)
c.54374C>G (p.Pro18125Arg)
c.54371C>G (p.Pro18124Arg)
c.53804C>G (p.Pro17935Arg)
c.51146C>G (p.Pro17049Arg)
c.51065C>G (p.Pro17022Arg)
c.32828C>G (p.Pro10943Arg)
c.22682C>G (p.Pro7561Arg)
2g.178591886G=CA1310540443TTN,TTN-AS1c.52229C= (p.Pro17410=)
c.33314C= (p.Pro11105=)
c.33113C= (p.Pro11038=)
c.32738C= (p.Pro10913=)
c.59933C= (p.Pro19978=)
c.55010C= (p.Pro18337=)
n.597-5710G=
n.3364+572G=
c.59030C= (p.Pro19677=)
c.32924C= (p.Pro10975=)
c.32783C= (p.Pro10928=)
c.58826C= (p.Pro19609=)
c.54224C= (p.Pro18075=)
c.54221C= (p.Pro18074=)
c.51263C= (p.Pro17088=)
c.32879C= (p.Pro10960=)
c.54374C= (p.Pro18125=)
c.54371C= (p.Pro18124=)
c.53804C= (p.Pro17935=)
c.51146C= (p.Pro17049=)
c.51065C= (p.Pro17022=)
c.32828C= (p.Pro10943=)
c.22682C= (p.Pro7561=)
2g.178591886G>TCA349488503TTN,TTN-AS1c.52229C>A (p.Pro17410Gln)
c.33314C>A (p.Pro11105Gln)
c.33113C>A (p.Pro11038Gln)
c.32738C>A (p.Pro10913Gln)
c.59933C>A (p.Pro19978Gln)
c.55010C>A (p.Pro18337Gln)
n.597-5710G>T
n.3364+572G>T
c.59030C>A (p.Pro19677Gln)
c.32924C>A (p.Pro10975Gln)
c.32783C>A (p.Pro10928Gln)
c.58826C>A (p.Pro19609Gln)
c.54224C>A (p.Pro18075Gln)
c.54221C>A (p.Pro18074Gln)
c.51263C>A (p.Pro17088Gln)
c.32879C>A (p.Pro10960Gln)
c.54374C>A (p.Pro18125Gln)
c.54371C>A (p.Pro18124Gln)
c.53804C>A (p.Pro17935Gln)
c.51146C>A (p.Pro17049Gln)
c.51065C>A (p.Pro17022Gln)
c.32828C>A (p.Pro10943Gln)
c.22682C>A (p.Pro7561Gln)
2g.178591887G>ACA349488508TTN,TTN-AS1c.52228C>T (p.Pro17410Ser)
c.33313C>T (p.Pro11105Ser)
c.33112C>T (p.Pro11038Ser)
c.32737C>T (p.Pro10913Ser)
c.59932C>T (p.Pro19978Ser)
c.55009C>T (p.Pro18337Ser)
n.597-5709G>A
n.3364+573G>A
c.59029C>T (p.Pro19677Ser)
c.32923C>T (p.Pro10975Ser)
c.32782C>T (p.Pro10928Ser)
c.58825C>T (p.Pro19609Ser)
c.54223C>T (p.Pro18075Ser)
c.54220C>T (p.Pro18074Ser)
c.51262C>T (p.Pro17088Ser)
c.32878C>T (p.Pro10960Ser)
c.54373C>T (p.Pro18125Ser)
c.54370C>T (p.Pro18124Ser)
c.53803C>T (p.Pro17935Ser)
c.51145C>T (p.Pro17049Ser)
c.51064C>T (p.Pro17022Ser)
c.32827C>T (p.Pro10943Ser)
c.22681C>T (p.Pro7561Ser)
2g.178591887G>CCA349488512TTN,TTN-AS1c.52228C>G (p.Pro17410Ala)
c.33313C>G (p.Pro11105Ala)
c.33112C>G (p.Pro11038Ala)
c.32737C>G (p.Pro10913Ala)
c.59932C>G (p.Pro19978Ala)
c.55009C>G (p.Pro18337Ala)
n.597-5709G>C
n.3364+573G>C
c.59029C>G (p.Pro19677Ala)
c.32923C>G (p.Pro10975Ala)
c.32782C>G (p.Pro10928Ala)
c.58825C>G (p.Pro19609Ala)
c.54223C>G (p.Pro18075Ala)
c.54220C>G (p.Pro18074Ala)
c.51262C>G (p.Pro17088Ala)
c.32878C>G (p.Pro10960Ala)
c.54373C>G (p.Pro18125Ala)
c.54370C>G (p.Pro18124Ala)
c.53803C>G (p.Pro17935Ala)
c.51145C>G (p.Pro17049Ala)
c.51064C>G (p.Pro17022Ala)
c.32827C>G (p.Pro10943Ala)
c.22681C>G (p.Pro7561Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178591887G=CA1310540445TTN,TTN-AS1c.52228C= (p.Pro17410=)
c.33313C= (p.Pro11105=)
c.33112C= (p.Pro11038=)
c.32737C= (p.Pro10913=)
c.59932C= (p.Pro19978=)
c.55009C= (p.Pro18337=)
n.597-5709G=
n.3364+573G=
c.59029C= (p.Pro19677=)
c.32923C= (p.Pro10975=)
c.32782C= (p.Pro10928=)
c.58825C= (p.Pro19609=)
c.54223C= (p.Pro18075=)
c.54220C= (p.Pro18074=)
c.51262C= (p.Pro17088=)
c.32878C= (p.Pro10960=)
c.54373C= (p.Pro18125=)
c.54370C= (p.Pro18124=)
c.53803C= (p.Pro17935=)
c.51145C= (p.Pro17049=)
c.51064C= (p.Pro17022=)
c.32827C= (p.Pro10943=)
c.22681C= (p.Pro7561=)
2g.178591887G>TCA349488513TTN,TTN-AS1c.52228C>A (p.Pro17410Thr)
c.33313C>A (p.Pro11105Thr)
c.33112C>A (p.Pro11038Thr)
c.32737C>A (p.Pro10913Thr)
c.59932C>A (p.Pro19978Thr)
c.55009C>A (p.Pro18337Thr)
n.597-5709G>T
n.3364+573G>T
c.59029C>A (p.Pro19677Thr)
c.32923C>A (p.Pro10975Thr)
c.32782C>A (p.Pro10928Thr)
c.58825C>A (p.Pro19609Thr)
c.54223C>A (p.Pro18075Thr)
c.54220C>A (p.Pro18074Thr)
c.51262C>A (p.Pro17088Thr)
c.32878C>A (p.Pro10960Thr)
c.54373C>A (p.Pro18125Thr)
c.54370C>A (p.Pro18124Thr)
c.53803C>A (p.Pro17935Thr)
c.51145C>A (p.Pro17049Thr)
c.51064C>A (p.Pro17022Thr)
c.32827C>A (p.Pro10943Thr)
c.22681C>A (p.Pro7561Thr)
2g.178591888G>ACA430266958TTN,TTN-AS1c.52227C>T (p.Pro17409=)
c.33312C>T (p.Pro11104=)
c.33111C>T (p.Pro11037=)
c.32736C>T (p.Pro10912=)
c.59931C>T (p.Pro19977=)
c.55008C>T (p.Pro18336=)
n.597-5708G>A
n.3364+574G>A
c.59028C>T (p.Pro19676=)
c.32922C>T (p.Pro10974=)
c.32781C>T (p.Pro10927=)
c.58824C>T (p.Pro19608=)
c.54222C>T (p.Pro18074=)
c.54219C>T (p.Pro18073=)
c.51261C>T (p.Pro17087=)
c.32877C>T (p.Pro10959=)
c.54372C>T (p.Pro18124=)
c.54369C>T (p.Pro18123=)
c.53802C>T (p.Pro17934=)
c.51144C>T (p.Pro17048=)
c.51063C>T (p.Pro17021=)
c.32826C>T (p.Pro10942=)
c.22680C>T (p.Pro7560=)
 gnomAD v4
2g.178591888G>CCA430266961TTN,TTN-AS1c.52227C>G (p.Pro17409=)
c.33312C>G (p.Pro11104=)
c.33111C>G (p.Pro11037=)
c.32736C>G (p.Pro10912=)
c.59931C>G (p.Pro19977=)
c.55008C>G (p.Pro18336=)
n.597-5708G>C
n.3364+574G>C
c.59028C>G (p.Pro19676=)
c.32922C>G (p.Pro10974=)
c.32781C>G (p.Pro10927=)
c.58824C>G (p.Pro19608=)
c.54222C>G (p.Pro18074=)
c.54219C>G (p.Pro18073=)
c.51261C>G (p.Pro17087=)
c.32877C>G (p.Pro10959=)
c.54372C>G (p.Pro18124=)
c.54369C>G (p.Pro18123=)
c.53802C>G (p.Pro17934=)
c.51144C>G (p.Pro17048=)
c.51063C>G (p.Pro17021=)
c.32826C>G (p.Pro10942=)
c.22680C>G (p.Pro7560=)
2g.178591888G>TCA430266959TTN,TTN-AS1c.52227C>A (p.Pro17409=)
c.33312C>A (p.Pro11104=)
c.33111C>A (p.Pro11037=)
c.32736C>A (p.Pro10912=)
c.59931C>A (p.Pro19977=)
c.55008C>A (p.Pro18336=)
n.597-5708G>T
n.3364+574G>T
c.59028C>A (p.Pro19676=)
c.32922C>A (p.Pro10974=)
c.32781C>A (p.Pro10927=)
c.58824C>A (p.Pro19608=)
c.54222C>A (p.Pro18074=)
c.54219C>A (p.Pro18073=)
c.51261C>A (p.Pro17087=)
c.32877C>A (p.Pro10959=)
c.54372C>A (p.Pro18124=)
c.54369C>A (p.Pro18123=)
c.53802C>A (p.Pro17934=)
c.51144C>A (p.Pro17048=)
c.51063C>A (p.Pro17021=)
c.32826C>A (p.Pro10942=)
c.22680C>A (p.Pro7560=)
2g.178591889G>ACA349488514TTN,TTN-AS1c.52226C>T (p.Pro17409Leu)
c.33311C>T (p.Pro11104Leu)
c.33110C>T (p.Pro11037Leu)
c.32735C>T (p.Pro10912Leu)
c.59930C>T (p.Pro19977Leu)
c.55007C>T (p.Pro18336Leu)
n.597-5707G>A
n.3364+575G>A
c.59027C>T (p.Pro19676Leu)
c.32921C>T (p.Pro10974Leu)
c.32780C>T (p.Pro10927Leu)
c.58823C>T (p.Pro19608Leu)
c.54221C>T (p.Pro18074Leu)
c.54218C>T (p.Pro18073Leu)
c.51260C>T (p.Pro17087Leu)
c.32876C>T (p.Pro10959Leu)
c.54371C>T (p.Pro18124Leu)
c.54368C>T (p.Pro18123Leu)
c.53801C>T (p.Pro17934Leu)
c.51143C>T (p.Pro17048Leu)
c.51062C>T (p.Pro17021Leu)
c.32825C>T (p.Pro10942Leu)
c.22679C>T (p.Pro7560Leu)
2g.178591889G>CCA349488515TTN,TTN-AS1c.52226C>G (p.Pro17409Arg)
c.33311C>G (p.Pro11104Arg)
c.33110C>G (p.Pro11037Arg)
c.32735C>G (p.Pro10912Arg)
c.59930C>G (p.Pro19977Arg)
c.55007C>G (p.Pro18336Arg)
n.597-5707G>C
n.3364+575G>C
c.59027C>G (p.Pro19676Arg)
c.32921C>G (p.Pro10974Arg)
c.32780C>G (p.Pro10927Arg)
c.58823C>G (p.Pro19608Arg)
c.54221C>G (p.Pro18074Arg)
c.54218C>G (p.Pro18073Arg)
c.51260C>G (p.Pro17087Arg)
c.32876C>G (p.Pro10959Arg)
c.54371C>G (p.Pro18124Arg)
c.54368C>G (p.Pro18123Arg)
c.53801C>G (p.Pro17934Arg)
c.51143C>G (p.Pro17048Arg)
c.51062C>G (p.Pro17021Arg)
c.32825C>G (p.Pro10942Arg)
c.22679C>G (p.Pro7560Arg)
2g.178591889G>TCA349488516TTN,TTN-AS1c.52226C>A (p.Pro17409His)
c.33311C>A (p.Pro11104His)
c.33110C>A (p.Pro11037His)
c.32735C>A (p.Pro10912His)
c.59930C>A (p.Pro19977His)
c.55007C>A (p.Pro18336His)
n.597-5707G>T
n.3364+575G>T
c.59027C>A (p.Pro19676His)
c.32921C>A (p.Pro10974His)
c.32780C>A (p.Pro10927His)
c.58823C>A (p.Pro19608His)
c.54221C>A (p.Pro18074His)
c.54218C>A (p.Pro18073His)
c.51260C>A (p.Pro17087His)
c.32876C>A (p.Pro10959His)
c.54371C>A (p.Pro18124His)
c.54368C>A (p.Pro18123His)
c.53801C>A (p.Pro17934His)
c.51143C>A (p.Pro17048His)
c.51062C>A (p.Pro17021His)
c.32825C>A (p.Pro10942His)
c.22679C>A (p.Pro7560His)
2g.178591890G>ACA349488521TTN,TTN-AS1c.52225C>T (p.Pro17409Ser)
c.33310C>T (p.Pro11104Ser)
c.33109C>T (p.Pro11037Ser)
c.32734C>T (p.Pro10912Ser)
c.59929C>T (p.Pro19977Ser)
c.55006C>T (p.Pro18336Ser)
n.597-5706G>A
n.3364+576G>A
c.59026C>T (p.Pro19676Ser)
c.32920C>T (p.Pro10974Ser)
c.32779C>T (p.Pro10927Ser)
c.58822C>T (p.Pro19608Ser)
c.54220C>T (p.Pro18074Ser)
c.54217C>T (p.Pro18073Ser)
c.51259C>T (p.Pro17087Ser)
c.32875C>T (p.Pro10959Ser)
c.54370C>T (p.Pro18124Ser)
c.54367C>T (p.Pro18123Ser)
c.53800C>T (p.Pro17934Ser)
c.51142C>T (p.Pro17048Ser)
c.51061C>T (p.Pro17021Ser)
c.32824C>T (p.Pro10942Ser)
c.22678C>T (p.Pro7560Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178591890G>CCA349488517TTN,TTN-AS1c.52225C>G (p.Pro17409Ala)
c.33310C>G (p.Pro11104Ala)
c.33109C>G (p.Pro11037Ala)
c.32734C>G (p.Pro10912Ala)
c.59929C>G (p.Pro19977Ala)
c.55006C>G (p.Pro18336Ala)
n.597-5706G>C
n.3364+576G>C
c.59026C>G (p.Pro19676Ala)
c.32920C>G (p.Pro10974Ala)
c.32779C>G (p.Pro10927Ala)
c.58822C>G (p.Pro19608Ala)
c.54220C>G (p.Pro18074Ala)
c.54217C>G (p.Pro18073Ala)
c.51259C>G (p.Pro17087Ala)
c.32875C>G (p.Pro10959Ala)
c.54370C>G (p.Pro18124Ala)
c.54367C>G (p.Pro18123Ala)
c.53800C>G (p.Pro17934Ala)
c.51142C>G (p.Pro17048Ala)
c.51061C>G (p.Pro17021Ala)
c.32824C>G (p.Pro10942Ala)
c.22678C>G (p.Pro7560Ala)
2g.178591890G=CA1310540447TTN,TTN-AS1c.52225C= (p.Pro17409=)
c.33310C= (p.Pro11104=)
c.33109C= (p.Pro11037=)
c.32734C= (p.Pro10912=)
c.59929C= (p.Pro19977=)
c.55006C= (p.Pro18336=)
n.597-5706G=
n.3364+576G=
c.59026C= (p.Pro19676=)
c.32920C= (p.Pro10974=)
c.32779C= (p.Pro10927=)
c.58822C= (p.Pro19608=)
c.54220C= (p.Pro18074=)
c.54217C= (p.Pro18073=)
c.51259C= (p.Pro17087=)
c.32875C= (p.Pro10959=)
c.54370C= (p.Pro18124=)
c.54367C= (p.Pro18123=)
c.53800C= (p.Pro17934=)
c.51142C= (p.Pro17048=)
c.51061C= (p.Pro17021=)
c.32824C= (p.Pro10942=)
c.22678C= (p.Pro7560=)
2g.178591890G>TCA1992571TTN,TTN-AS1c.52225C>A (p.Pro17409Thr)
c.33310C>A (p.Pro11104Thr)
c.33109C>A (p.Pro11037Thr)
c.32734C>A (p.Pro10912Thr)
c.59929C>A (p.Pro19977Thr)
c.55006C>A (p.Pro18336Thr)
n.597-5706G>T
n.3364+576G>T
c.59026C>A (p.Pro19676Thr)
c.32920C>A (p.Pro10974Thr)
c.32779C>A (p.Pro10927Thr)
c.58822C>A (p.Pro19608Thr)
c.54220C>A (p.Pro18074Thr)
c.54217C>A (p.Pro18073Thr)
c.51259C>A (p.Pro17087Thr)
c.32875C>A (p.Pro10959Thr)
c.54370C>A (p.Pro18124Thr)
c.54367C>A (p.Pro18123Thr)
c.53800C>A (p.Pro17934Thr)
c.51142C>A (p.Pro17048Thr)
c.51061C>A (p.Pro17021Thr)
c.32824C>A (p.Pro10942Thr)
c.22678C>A (p.Pro7560Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178591891A=CA1310540449TTN,TTN-AS1c.52224T= (p.His17408=)
c.33309T= (p.His11103=)
c.33108T= (p.His11036=)
c.32733T= (p.His10911=)
c.59928T= (p.His19976=)
c.55005T= (p.His18335=)
n.597-5705A=
n.3364+577A=
c.59025T= (p.His19675=)
c.32919T= (p.His10973=)
c.32778T= (p.His10926=)
c.58821T= (p.His19607=)
c.54219T= (p.His18073=)
c.54216T= (p.His18072=)
c.51258T= (p.His17086=)
c.32874T= (p.His10958=)
c.54369T= (p.His18123=)
c.54366T= (p.His18122=)
c.53799T= (p.His17933=)
c.51141T= (p.His17047=)
c.51060T= (p.His17020=)
c.32823T= (p.His10941=)
c.22677T= (p.His7559=)
2g.178591891A>CCA349488525TTN,TTN-AS1c.52224T>G (p.His17408Gln)
c.33309T>G (p.His11103Gln)
c.33108T>G (p.His11036Gln)
c.32733T>G (p.His10911Gln)
c.59928T>G (p.His19976Gln)
c.55005T>G (p.His18335Gln)
n.597-5705A>C
n.3364+577A>C
c.59025T>G (p.His19675Gln)
c.32919T>G (p.His10973Gln)
c.32778T>G (p.His10926Gln)
c.58821T>G (p.His19607Gln)
c.54219T>G (p.His18073Gln)
c.54216T>G (p.His18072Gln)
c.51258T>G (p.His17086Gln)
c.32874T>G (p.His10958Gln)
c.54369T>G (p.His18123Gln)
c.54366T>G (p.His18122Gln)
c.53799T>G (p.His17933Gln)
c.51141T>G (p.His17047Gln)
c.51060T>G (p.His17020Gln)
c.32823T>G (p.His10941Gln)
c.22677T>G (p.His7559Gln)
2g.178591891A>GCA430266964TTN,TTN-AS1c.52224T>C (p.His17408=)
c.33309T>C (p.His11103=)
c.33108T>C (p.His11036=)
c.32733T>C (p.His10911=)
c.59928T>C (p.His19976=)
c.55005T>C (p.His18335=)
n.597-5705A>G
n.3364+577A>G
c.59025T>C (p.His19675=)
c.32919T>C (p.His10973=)
c.32778T>C (p.His10926=)
c.58821T>C (p.His19607=)
c.54219T>C (p.His18073=)
c.54216T>C (p.His18072=)
c.51258T>C (p.His17086=)
c.32874T>C (p.His10958=)
c.54369T>C (p.His18123=)
c.54366T>C (p.His18122=)
c.53799T>C (p.His17933=)
c.51141T>C (p.His17047=)
c.51060T>C (p.His17020=)
c.32823T>C (p.His10941=)
c.22677T>C (p.His7559=)
2g.178591891A>TCA349488528TTN,TTN-AS1c.52224T>A (p.His17408Gln)
c.33309T>A (p.His11103Gln)
c.33108T>A (p.His11036Gln)
c.32733T>A (p.His10911Gln)
c.59928T>A (p.His19976Gln)
c.55005T>A (p.His18335Gln)
n.597-5705A>T
n.3364+577A>T
c.59025T>A (p.His19675Gln)
c.32919T>A (p.His10973Gln)
c.32778T>A (p.His10926Gln)
c.58821T>A (p.His19607Gln)
c.54219T>A (p.His18073Gln)
c.54216T>A (p.His18072Gln)
c.51258T>A (p.His17086Gln)
c.32874T>A (p.His10958Gln)
c.54369T>A (p.His18123Gln)
c.54366T>A (p.His18122Gln)
c.53799T>A (p.His17933Gln)
c.51141T>A (p.His17047Gln)
c.51060T>A (p.His17020Gln)
c.32823T>A (p.His10941Gln)
c.22677T>A (p.His7559Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178591892T>ACA349488541TTN,TTN-AS1c.52223A>T (p.His17408Leu)
c.33308A>T (p.His11103Leu)
c.33107A>T (p.His11036Leu)
c.32732A>T (p.His10911Leu)
c.59927A>T (p.His19976Leu)
c.55004A>T (p.His18335Leu)
n.597-5704T>A
n.3364+578T>A
c.59024A>T (p.His19675Leu)
c.32918A>T (p.His10973Leu)
c.32777A>T (p.His10926Leu)
c.58820A>T (p.His19607Leu)
c.54218A>T (p.His18073Leu)
c.54215A>T (p.His18072Leu)
c.51257A>T (p.His17086Leu)
c.32873A>T (p.His10958Leu)
c.54368A>T (p.His18123Leu)
c.54365A>T (p.His18122Leu)
c.53798A>T (p.His17933Leu)
c.51140A>T (p.His17047Leu)
c.51059A>T (p.His17020Leu)
c.32822A>T (p.His10941Leu)
c.22676A>T (p.His7559Leu)
2g.178591892T>CCA349488549TTN,TTN-AS1c.52223A>G (p.His17408Arg)
c.33308A>G (p.His11103Arg)
c.33107A>G (p.His11036Arg)
c.32732A>G (p.His10911Arg)
c.59927A>G (p.His19976Arg)
c.55004A>G (p.His18335Arg)
n.597-5704T>C
n.3364+578T>C
c.59024A>G (p.His19675Arg)
c.32918A>G (p.His10973Arg)
c.32777A>G (p.His10926Arg)
c.58820A>G (p.His19607Arg)
c.54218A>G (p.His18073Arg)
c.54215A>G (p.His18072Arg)
c.51257A>G (p.His17086Arg)
c.32873A>G (p.His10958Arg)
c.54368A>G (p.His18123Arg)
c.54365A>G (p.His18122Arg)
c.53798A>G (p.His17933Arg)
c.51140A>G (p.His17047Arg)
c.51059A>G (p.His17020Arg)
c.32822A>G (p.His10941Arg)
c.22676A>G (p.His7559Arg)
2g.178591892T>GCA349488552TTN,TTN-AS1c.52223A>C (p.His17408Pro)
c.33308A>C (p.His11103Pro)
c.33107A>C (p.His11036Pro)
c.32732A>C (p.His10911Pro)
c.59927A>C (p.His19976Pro)
c.55004A>C (p.His18335Pro)
n.597-5704T>G
n.3364+578T>G
c.59024A>C (p.His19675Pro)
c.32918A>C (p.His10973Pro)
c.32777A>C (p.His10926Pro)
c.58820A>C (p.His19607Pro)
c.54218A>C (p.His18073Pro)
c.54215A>C (p.His18072Pro)
c.51257A>C (p.His17086Pro)
c.32873A>C (p.His10958Pro)
c.54368A>C (p.His18123Pro)
c.54365A>C (p.His18122Pro)
c.53798A>C (p.His17933Pro)
c.51140A>C (p.His17047Pro)
c.51059A>C (p.His17020Pro)
c.32822A>C (p.His10941Pro)
c.22676A>C (p.His7559Pro)
2g.178591893C>ACA349488555TTN,TTN-AS1c.52223-1G>T (n.52223-1G>T)
c.33308-1G>T (n.33308-1G>T)
c.33107-1G>T (n.33107-1G>T)
c.32732-1G>T (n.32732-1G>T)
c.59927-1G>T (n.59927-1G>T)
c.55004-1G>T (n.55004-1G>T)
n.597-5703C>A
n.3364+579C>A
c.59024-1G>T (n.59024-1G>T)
c.32918-1G>T (n.32918-1G>T)
c.32777-1G>T (n.32777-1G>T)
c.58820-1G>T (n.58820-1G>T)
c.54218-1G>T (n.54218-1G>T)
c.54215-1G>T (n.54215-1G>T)
c.51257-1G>T (n.51257-1G>T)
c.32873-1G>T (n.32873-1G>T)
c.54368-1G>T (n.54368-1G>T)
c.54365-1G>T (n.54365-1G>T)
c.53798-1G>T (n.53798-1G>T)
c.51140-1G>T (n.51140-1G>T)
c.51059-1G>T (n.51059-1G>T)
c.32822-1G>T (n.32822-1G>T)
c.22676-1G>T (n.22676-1G>T)
2g.178591893C>GCA349488561TTN,TTN-AS1c.52223-1G>C (n.52223-1G>C)
c.33308-1G>C (n.33308-1G>C)
c.33107-1G>C (n.33107-1G>C)
c.32732-1G>C (n.32732-1G>C)
c.59927-1G>C (n.59927-1G>C)
c.55004-1G>C (n.55004-1G>C)
n.597-5703C>G
n.3364+579C>G
c.59024-1G>C (n.59024-1G>C)
c.32918-1G>C (n.32918-1G>C)
c.32777-1G>C (n.32777-1G>C)
c.58820-1G>C (n.58820-1G>C)
c.54218-1G>C (n.54218-1G>C)
c.54215-1G>C (n.54215-1G>C)
c.51257-1G>C (n.51257-1G>C)
c.32873-1G>C (n.32873-1G>C)
c.54368-1G>C (n.54368-1G>C)
c.54365-1G>C (n.54365-1G>C)
c.53798-1G>C (n.53798-1G>C)
c.51140-1G>C (n.51140-1G>C)
c.51059-1G>C (n.51059-1G>C)
c.32822-1G>C (n.32822-1G>C)
c.22676-1G>C (n.22676-1G>C)
2g.178591893C>TCA349488558TTN,TTN-AS1c.52223-1G>A (n.52223-1G>A)
c.33308-1G>A (n.33308-1G>A)
c.33107-1G>A (n.33107-1G>A)
c.32732-1G>A (n.32732-1G>A)
c.59927-1G>A (n.59927-1G>A)
c.55004-1G>A (n.55004-1G>A)
n.597-5703C>T
n.3364+579C>T
c.59024-1G>A (n.59024-1G>A)
c.32918-1G>A (n.32918-1G>A)
c.32777-1G>A (n.32777-1G>A)
c.58820-1G>A (n.58820-1G>A)
c.54218-1G>A (n.54218-1G>A)
c.54215-1G>A (n.54215-1G>A)
c.51257-1G>A (n.51257-1G>A)
c.32873-1G>A (n.32873-1G>A)
c.54368-1G>A (n.54368-1G>A)
c.54365-1G>A (n.54365-1G>A)
c.53798-1G>A (n.53798-1G>A)
c.51140-1G>A (n.51140-1G>A)
c.51059-1G>A (n.51059-1G>A)
c.32822-1G>A (n.32822-1G>A)
c.22676-1G>A (n.22676-1G>A)
2g.178591894T>ACA349488564TTN,TTN-AS1c.52223-2A>T (n.52223-2A>T)
c.33308-2A>T (n.33308-2A>T)
c.33107-2A>T (n.33107-2A>T)
c.32732-2A>T (n.32732-2A>T)
c.59927-2A>T (n.59927-2A>T)
c.55004-2A>T (n.55004-2A>T)
n.597-5702T>A
n.3364+580T>A
c.59024-2A>T (n.59024-2A>T)
c.32918-2A>T (n.32918-2A>T)
c.32777-2A>T (n.32777-2A>T)
c.58820-2A>T (n.58820-2A>T)
c.54218-2A>T (n.54218-2A>T)
c.54215-2A>T (n.54215-2A>T)
c.51257-2A>T (n.51257-2A>T)
c.32873-2A>T (n.32873-2A>T)
c.54368-2A>T (n.54368-2A>T)
c.54365-2A>T (n.54365-2A>T)
c.53798-2A>T (n.53798-2A>T)
c.51140-2A>T (n.51140-2A>T)
c.51059-2A>T (n.51059-2A>T)
c.32822-2A>T (n.32822-2A>T)
c.22676-2A>T (n.22676-2A>T)
2g.178591894T>CCA349488572TTN,TTN-AS1c.52223-2A>G (n.52223-2A>G)
c.33308-2A>G (n.33308-2A>G)
c.33107-2A>G (n.33107-2A>G)
c.32732-2A>G (n.32732-2A>G)
c.59927-2A>G (n.59927-2A>G)
c.55004-2A>G (n.55004-2A>G)
n.597-5702T>C
n.3364+580T>C
c.59024-2A>G (n.59024-2A>G)
c.32918-2A>G (n.32918-2A>G)
c.32777-2A>G (n.32777-2A>G)
c.58820-2A>G (n.58820-2A>G)
c.54218-2A>G (n.54218-2A>G)
c.54215-2A>G (n.54215-2A>G)
c.51257-2A>G (n.51257-2A>G)
c.32873-2A>G (n.32873-2A>G)
c.54368-2A>G (n.54368-2A>G)
c.54365-2A>G (n.54365-2A>G)
c.53798-2A>G (n.53798-2A>G)
c.51140-2A>G (n.51140-2A>G)
c.51059-2A>G (n.51059-2A>G)
c.32822-2A>G (n.32822-2A>G)
c.22676-2A>G (n.22676-2A>G)
2g.178591894T>GCA349488575TTN,TTN-AS1c.52223-2A>C (n.52223-2A>C)
c.33308-2A>C (n.33308-2A>C)
c.33107-2A>C (n.33107-2A>C)
c.32732-2A>C (n.32732-2A>C)
c.59927-2A>C (n.59927-2A>C)
c.55004-2A>C (n.55004-2A>C)
n.597-5702T>G
n.3364+580T>G
c.59024-2A>C (n.59024-2A>C)
c.32918-2A>C (n.32918-2A>C)
c.32777-2A>C (n.32777-2A>C)
c.58820-2A>C (n.58820-2A>C)
c.54218-2A>C (n.54218-2A>C)
c.54215-2A>C (n.54215-2A>C)
c.51257-2A>C (n.51257-2A>C)
c.32873-2A>C (n.32873-2A>C)
c.54368-2A>C (n.54368-2A>C)
c.54365-2A>C (n.54365-2A>C)
c.53798-2A>C (n.53798-2A>C)
c.51140-2A>C (n.51140-2A>C)
c.51059-2A>C (n.51059-2A>C)
c.32822-2A>C (n.32822-2A>C)
c.22676-2A>C (n.22676-2A>C)
2g.178591896T>ACA538435578TTN,TTN-AS1c.52223-4A>T (n.52223-4A>T)
c.33308-4A>T (n.33308-4A>T)
c.33107-4A>T (n.33107-4A>T)
c.32732-4A>T (n.32732-4A>T)
c.59927-4A>T (n.59927-4A>T)
c.55004-4A>T (n.55004-4A>T)
n.597-5700T>A
n.3364+582T>A
c.59024-4A>T (n.59024-4A>T)
c.32918-4A>T (n.32918-4A>T)
c.32777-4A>T (n.32777-4A>T)
c.58820-4A>T (n.58820-4A>T)
c.54218-4A>T (n.54218-4A>T)
c.54215-4A>T (n.54215-4A>T)
c.51257-4A>T (n.51257-4A>T)
c.32873-4A>T (n.32873-4A>T)
c.54368-4A>T (n.54368-4A>T)
c.54365-4A>T (n.54365-4A>T)
c.53798-4A>T (n.53798-4A>T)
c.51140-4A>T (n.51140-4A>T)
c.51059-4A>T (n.51059-4A>T)
c.32822-4A>T (n.32822-4A>T)
c.22676-4A>T (n.22676-4A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.178591896T=CA1310540450TTN,TTN-AS1c.52223-4A= (n.52223-4A=)
c.33308-4A= (n.33308-4A=)
c.33107-4A= (n.33107-4A=)
c.32732-4A= (n.32732-4A=)
c.59927-4A= (n.59927-4A=)
c.55004-4A= (n.55004-4A=)
n.597-5700T=
n.3364+582T=
c.59024-4A= (n.59024-4A=)
c.32918-4A= (n.32918-4A=)
c.32777-4A= (n.32777-4A=)
c.58820-4A= (n.58820-4A=)
c.54218-4A= (n.54218-4A=)
c.54215-4A= (n.54215-4A=)
c.51257-4A= (n.51257-4A=)
c.32873-4A= (n.32873-4A=)
c.54368-4A= (n.54368-4A=)
c.54365-4A= (n.54365-4A=)
c.53798-4A= (n.53798-4A=)
c.51140-4A= (n.51140-4A=)
c.51059-4A= (n.51059-4A=)
c.32822-4A= (n.32822-4A=)
c.22676-4A= (n.22676-4A=)
2g.178591900_178591901delCA2753332597TTN,TTN-AS1c.52223-8_52223-7del (n.52223-8_52223-7del)
c.33308-8_33308-7del (n.33308-8_33308-7del)
c.33107-8_33107-7del (n.33107-8_33107-7del)
c.32732-8_32732-7del (n.32732-8_32732-7del)
c.59927-8_59927-7del (n.59927-8_59927-7del)
c.55004-8_55004-7del (n.55004-8_55004-7del)
n.597-5696_597-5695del
n.3364+586_3364+587del
c.59024-8_59024-7del (n.59024-8_59024-7del)
c.32918-8_32918-7del (n.32918-8_32918-7del)
c.32777-8_32777-7del (n.32777-8_32777-7del)
c.58820-8_58820-7del (n.58820-8_58820-7del)
c.54218-8_54218-7del (n.54218-8_54218-7del)
c.54215-8_54215-7del (n.54215-8_54215-7del)
c.51257-8_51257-7del (n.51257-8_51257-7del)
c.32873-8_32873-7del (n.32873-8_32873-7del)
c.54368-8_54368-7del (n.54368-8_54368-7del)
c.54365-8_54365-7del (n.54365-8_54365-7del)
c.53798-8_53798-7del (n.53798-8_53798-7del)
c.51140-8_51140-7del (n.51140-8_51140-7del)
c.51059-8_51059-7del (n.51059-8_51059-7del)
c.32822-8_32822-7del (n.32822-8_32822-7del)
c.22676-8_22676-7del (n.22676-8_22676-7del)
2g.178591899_178591902delinsAAAGCA1310540451TTN,TTN-AS1c.52223-10_52223-7delinsCTTT (n.52223-10_52223-7delinsCTTT)
c.33308-10_33308-7delinsCTTT (n.33308-10_33308-7delinsCTTT)
c.33107-10_33107-7delinsCTTT (n.33107-10_33107-7delinsCTTT)
c.32732-10_32732-7delinsCTTT (n.32732-10_32732-7delinsCTTT)
c.59927-10_59927-7delinsCTTT (n.59927-10_59927-7delinsCTTT)
c.55004-10_55004-7delinsCTTT (n.55004-10_55004-7delinsCTTT)
n.597-5697_597-5694delinsAAAG
n.3364+585_3364+588delinsAAAG
c.59024-10_59024-7delinsCTTT (n.59024-10_59024-7delinsCTTT)
c.32918-10_32918-7delinsCTTT (n.32918-10_32918-7delinsCTTT)
c.32777-10_32777-7delinsCTTT (n.32777-10_32777-7delinsCTTT)
c.58820-10_58820-7delinsCTTT (n.58820-10_58820-7delinsCTTT)
c.54218-10_54218-7delinsCTTT (n.54218-10_54218-7delinsCTTT)
c.54215-10_54215-7delinsCTTT (n.54215-10_54215-7delinsCTTT)
c.51257-10_51257-7delinsCTTT (n.51257-10_51257-7delinsCTTT)
c.32873-10_32873-7delinsCTTT (n.32873-10_32873-7delinsCTTT)
c.54368-10_54368-7delinsCTTT (n.54368-10_54368-7delinsCTTT)
c.54365-10_54365-7delinsCTTT (n.54365-10_54365-7delinsCTTT)
c.53798-10_53798-7delinsCTTT (n.53798-10_53798-7delinsCTTT)
c.51140-10_51140-7delinsCTTT (n.51140-10_51140-7delinsCTTT)
c.51059-10_51059-7delinsCTTT (n.51059-10_51059-7delinsCTTT)
c.32822-10_32822-7delinsCTTT (n.32822-10_32822-7delinsCTTT)
c.22676-10_22676-7delinsCTTT (n.22676-10_22676-7delinsCTTT)
2g.178591906_178591908delCA538435579TTN,TTN-AS1c.52223-10_52223-8del (n.52223-10_52223-8del)
c.33308-10_33308-8del (n.33308-10_33308-8del)
c.33107-10_33107-8del (n.33107-10_33107-8del)
c.32732-10_32732-8del (n.32732-10_32732-8del)
c.59927-10_59927-8del (n.59927-10_59927-8del)
c.55004-10_55004-8del (n.55004-10_55004-8del)
n.597-5690_597-5688del
n.3364+592_3364+594del
c.59024-10_59024-8del (n.59024-10_59024-8del)
c.32918-10_32918-8del (n.32918-10_32918-8del)
c.32777-10_32777-8del (n.32777-10_32777-8del)
c.58820-10_58820-8del (n.58820-10_58820-8del)
c.54218-10_54218-8del (n.54218-10_54218-8del)
c.54215-10_54215-8del (n.54215-10_54215-8del)
c.51257-10_51257-8del (n.51257-10_51257-8del)
c.32873-10_32873-8del (n.32873-10_32873-8del)
c.54368-10_54368-8del (n.54368-10_54368-8del)
c.54365-10_54365-8del (n.54365-10_54365-8del)
c.53798-10_53798-8del (n.53798-10_53798-8del)
c.51140-10_51140-8del (n.51140-10_51140-8del)
c.51059-10_51059-8del (n.51059-10_51059-8del)
c.32822-10_32822-8del (n.32822-10_32822-8del)
c.22676-10_22676-8del (n.22676-10_22676-8del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178591901A>TCA2662130826TTN,TTN-AS1c.52223-9T>A (n.52223-9T>A)
c.33308-9T>A (n.33308-9T>A)
c.33107-9T>A (n.33107-9T>A)
c.32732-9T>A (n.32732-9T>A)
c.59927-9T>A (n.59927-9T>A)
c.55004-9T>A (n.55004-9T>A)
n.597-5695A>T
n.3364+587A>T
c.59024-9T>A (n.59024-9T>A)
c.32918-9T>A (n.32918-9T>A)
c.32777-9T>A (n.32777-9T>A)
c.58820-9T>A (n.58820-9T>A)
c.54218-9T>A (n.54218-9T>A)
c.54215-9T>A (n.54215-9T>A)
c.51257-9T>A (n.51257-9T>A)
c.32873-9T>A (n.32873-9T>A)
c.54368-9T>A (n.54368-9T>A)
c.54365-9T>A (n.54365-9T>A)
c.53798-9T>A (n.53798-9T>A)
c.51140-9T>A (n.51140-9T>A)
c.51059-9T>A (n.51059-9T>A)
c.32822-9T>A (n.32822-9T>A)
c.22676-9T>A (n.22676-9T>A)
 gnomAD v4
2g.178591902G>ACA2573133751TTN,TTN-AS1c.52223-10C>T (n.52223-10C>T)
c.33308-10C>T (n.33308-10C>T)
c.33107-10C>T (n.33107-10C>T)
c.32732-10C>T (n.32732-10C>T)
c.59927-10C>T (n.59927-10C>T)
c.55004-10C>T (n.55004-10C>T)
n.597-5694G>A
n.3364+588G>A
c.59024-10C>T (n.59024-10C>T)
c.32918-10C>T (n.32918-10C>T)
c.32777-10C>T (n.32777-10C>T)
c.58820-10C>T (n.58820-10C>T)
c.54218-10C>T (n.54218-10C>T)
c.54215-10C>T (n.54215-10C>T)
c.51257-10C>T (n.51257-10C>T)
c.32873-10C>T (n.32873-10C>T)
c.54368-10C>T (n.54368-10C>T)
c.54365-10C>T (n.54365-10C>T)
c.53798-10C>T (n.53798-10C>T)
c.51140-10C>T (n.51140-10C>T)
c.51059-10C>T (n.51059-10C>T)
c.32822-10C>T (n.32822-10C>T)
c.22676-10C>T (n.22676-10C>T)
 ClinVar dbSNP
2g.178591902G=CA1310540454TTN,TTN-AS1c.52223-10C= (n.52223-10C=)
c.33308-10C= (n.33308-10C=)
c.33107-10C= (n.33107-10C=)
c.32732-10C= (n.32732-10C=)
c.59927-10C= (n.59927-10C=)
c.55004-10C= (n.55004-10C=)
n.597-5694G=
n.3364+588G=
c.59024-10C= (n.59024-10C=)
c.32918-10C= (n.32918-10C=)
c.32777-10C= (n.32777-10C=)
c.58820-10C= (n.58820-10C=)
c.54218-10C= (n.54218-10C=)
c.54215-10C= (n.54215-10C=)
c.51257-10C= (n.51257-10C=)
c.32873-10C= (n.32873-10C=)
c.54368-10C= (n.54368-10C=)
c.54365-10C= (n.54365-10C=)
c.53798-10C= (n.53798-10C=)
c.51140-10C= (n.51140-10C=)
c.51059-10C= (n.51059-10C=)
c.32822-10C= (n.32822-10C=)
c.22676-10C= (n.22676-10C=)
2g.178591902G>TCA913189421TTN,TTN-AS1c.52223-10C>A (n.52223-10C>A)
c.33308-10C>A (n.33308-10C>A)
c.33107-10C>A (n.33107-10C>A)
c.32732-10C>A (n.32732-10C>A)
c.59927-10C>A (n.59927-10C>A)
c.55004-10C>A (n.55004-10C>A)
n.597-5694G>T
n.3364+588G>T
c.59024-10C>A (n.59024-10C>A)
c.32918-10C>A (n.32918-10C>A)
c.32777-10C>A (n.32777-10C>A)
c.58820-10C>A (n.58820-10C>A)
c.54218-10C>A (n.54218-10C>A)
c.54215-10C>A (n.54215-10C>A)
c.51257-10C>A (n.51257-10C>A)
c.32873-10C>A (n.32873-10C>A)
c.54368-10C>A (n.54368-10C>A)
c.54365-10C>A (n.54365-10C>A)
c.53798-10C>A (n.53798-10C>A)
c.51140-10C>A (n.51140-10C>A)
c.51059-10C>A (n.51059-10C>A)
c.32822-10C>A (n.32822-10C>A)
c.22676-10C>A (n.22676-10C>A)
 ClinVar dbSNP
2g.178591903A=CA1310540455TTN,TTN-AS1c.52223-11T= (n.52223-11T=)
c.33308-11T= (n.33308-11T=)
c.33107-11T= (n.33107-11T=)
c.32732-11T= (n.32732-11T=)
c.59927-11T= (n.59927-11T=)
c.55004-11T= (n.55004-11T=)
n.597-5693A=
n.3364+589A=
c.59024-11T= (n.59024-11T=)
c.32918-11T= (n.32918-11T=)
c.32777-11T= (n.32777-11T=)
c.58820-11T= (n.58820-11T=)
c.54218-11T= (n.54218-11T=)
c.54215-11T= (n.54215-11T=)
c.51257-11T= (n.51257-11T=)
c.32873-11T= (n.32873-11T=)
c.54368-11T= (n.54368-11T=)
c.54365-11T= (n.54365-11T=)
c.53798-11T= (n.53798-11T=)
c.51140-11T= (n.51140-11T=)
c.51059-11T= (n.51059-11T=)
c.32822-11T= (n.32822-11T=)
c.22676-11T= (n.22676-11T=)
2g.178591903A>TCA1992572TTN,TTN-AS1c.52223-11T>A (n.52223-11T>A)
c.33308-11T>A (n.33308-11T>A)
c.33107-11T>A (n.33107-11T>A)
c.32732-11T>A (n.32732-11T>A)
c.59927-11T>A (n.59927-11T>A)
c.55004-11T>A (n.55004-11T>A)
n.597-5693A>T
n.3364+589A>T
c.59024-11T>A (n.59024-11T>A)
c.32918-11T>A (n.32918-11T>A)
c.32777-11T>A (n.32777-11T>A)
c.58820-11T>A (n.58820-11T>A)
c.54218-11T>A (n.54218-11T>A)
c.54215-11T>A (n.54215-11T>A)
c.51257-11T>A (n.51257-11T>A)
c.32873-11T>A (n.32873-11T>A)
c.54368-11T>A (n.54368-11T>A)
c.54365-11T>A (n.54365-11T>A)
c.53798-11T>A (n.53798-11T>A)
c.51140-11T>A (n.51140-11T>A)
c.51059-11T>A (n.51059-11T>A)
c.32822-11T>A (n.32822-11T>A)
c.22676-11T>A (n.22676-11T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591905G=CA1310540457TTN,TTN-AS1c.52223-13C= (n.52223-13C=)
c.33308-13C= (n.33308-13C=)
c.33107-13C= (n.33107-13C=)
c.32732-13C= (n.32732-13C=)
c.59927-13C= (n.59927-13C=)
c.55004-13C= (n.55004-13C=)
n.597-5691G=
n.3364+591G=
c.59024-13C= (n.59024-13C=)
c.32918-13C= (n.32918-13C=)
c.32777-13C= (n.32777-13C=)
c.58820-13C= (n.58820-13C=)
c.54218-13C= (n.54218-13C=)
c.54215-13C= (n.54215-13C=)
c.51257-13C= (n.51257-13C=)
c.32873-13C= (n.32873-13C=)
c.54368-13C= (n.54368-13C=)
c.54365-13C= (n.54365-13C=)
c.53798-13C= (n.53798-13C=)
c.51140-13C= (n.51140-13C=)
c.51059-13C= (n.51059-13C=)
c.32822-13C= (n.32822-13C=)
c.22676-13C= (n.22676-13C=)
2g.178591905G>TCA538435580TTN,TTN-AS1c.52223-13C>A (n.52223-13C>A)
c.33308-13C>A (n.33308-13C>A)
c.33107-13C>A (n.33107-13C>A)
c.32732-13C>A (n.32732-13C>A)
c.59927-13C>A (n.59927-13C>A)
c.55004-13C>A (n.55004-13C>A)
n.597-5691G>T
n.3364+591G>T
c.59024-13C>A (n.59024-13C>A)
c.32918-13C>A (n.32918-13C>A)
c.32777-13C>A (n.32777-13C>A)
c.58820-13C>A (n.58820-13C>A)
c.54218-13C>A (n.54218-13C>A)
c.54215-13C>A (n.54215-13C>A)
c.51257-13C>A (n.51257-13C>A)
c.32873-13C>A (n.32873-13C>A)
c.54368-13C>A (n.54368-13C>A)
c.54365-13C>A (n.54365-13C>A)
c.53798-13C>A (n.53798-13C>A)
c.51140-13C>A (n.51140-13C>A)
c.51059-13C>A (n.51059-13C>A)
c.32822-13C>A (n.32822-13C>A)
c.22676-13C>A (n.22676-13C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178591906A=CA1310540458TTN,TTN-AS1c.52223-14T= (n.52223-14T=)
c.33308-14T= (n.33308-14T=)
c.33107-14T= (n.33107-14T=)
c.32732-14T= (n.32732-14T=)
c.59927-14T= (n.59927-14T=)
c.55004-14T= (n.55004-14T=)
n.597-5690A=
n.3364+592A=
c.59024-14T= (n.59024-14T=)
c.32918-14T= (n.32918-14T=)
c.32777-14T= (n.32777-14T=)
c.58820-14T= (n.58820-14T=)
c.54218-14T= (n.54218-14T=)
c.54215-14T= (n.54215-14T=)
c.51257-14T= (n.51257-14T=)
c.32873-14T= (n.32873-14T=)
c.54368-14T= (n.54368-14T=)
c.54365-14T= (n.54365-14T=)
c.53798-14T= (n.53798-14T=)
c.51140-14T= (n.51140-14T=)
c.51059-14T= (n.51059-14T=)
c.32822-14T= (n.32822-14T=)
c.22676-14T= (n.22676-14T=)
2g.178591906A>CCA2740096104TTN,TTN-AS1c.52223-14T>G (n.52223-14T>G)
c.33308-14T>G (n.33308-14T>G)
c.33107-14T>G (n.33107-14T>G)
c.32732-14T>G (n.32732-14T>G)
c.59927-14T>G (n.59927-14T>G)
c.55004-14T>G (n.55004-14T>G)
n.597-5690A>C
n.3364+592A>C
c.59024-14T>G (n.59024-14T>G)
c.32918-14T>G (n.32918-14T>G)
c.32777-14T>G (n.32777-14T>G)
c.58820-14T>G (n.58820-14T>G)
c.54218-14T>G (n.54218-14T>G)
c.54215-14T>G (n.54215-14T>G)
c.51257-14T>G (n.51257-14T>G)
c.32873-14T>G (n.32873-14T>G)
c.54368-14T>G (n.54368-14T>G)
c.54365-14T>G (n.54365-14T>G)
c.53798-14T>G (n.53798-14T>G)
c.51140-14T>G (n.51140-14T>G)
c.51059-14T>G (n.51059-14T>G)
c.32822-14T>G (n.32822-14T>G)
c.22676-14T>G (n.22676-14T>G)
 ClinVar
2g.178591906A>GCA1992573TTN,TTN-AS1c.52223-14T>C (n.52223-14T>C)
c.33308-14T>C (n.33308-14T>C)
c.33107-14T>C (n.33107-14T>C)
c.32732-14T>C (n.32732-14T>C)
c.59927-14T>C (n.59927-14T>C)
c.55004-14T>C (n.55004-14T>C)
n.597-5690A>G
n.3364+592A>G
c.59024-14T>C (n.59024-14T>C)
c.32918-14T>C (n.32918-14T>C)
c.32777-14T>C (n.32777-14T>C)
c.58820-14T>C (n.58820-14T>C)
c.54218-14T>C (n.54218-14T>C)
c.54215-14T>C (n.54215-14T>C)
c.51257-14T>C (n.51257-14T>C)
c.32873-14T>C (n.32873-14T>C)
c.54368-14T>C (n.54368-14T>C)
c.54365-14T>C (n.54365-14T>C)
c.53798-14T>C (n.53798-14T>C)
c.51140-14T>C (n.51140-14T>C)
c.51059-14T>C (n.51059-14T>C)
c.32822-14T>C (n.32822-14T>C)
c.22676-14T>C (n.22676-14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178591907A=CA1310540459TTN,TTN-AS1c.52223-15T= (n.52223-15T=)
c.33308-15T= (n.33308-15T=)
c.33107-15T= (n.33107-15T=)
c.32732-15T= (n.32732-15T=)
c.59927-15T= (n.59927-15T=)
c.55004-15T= (n.55004-15T=)
n.597-5689A=
n.3364+593A=
c.59024-15T= (n.59024-15T=)
c.32918-15T= (n.32918-15T=)
c.32777-15T= (n.32777-15T=)
c.58820-15T= (n.58820-15T=)
c.54218-15T= (n.54218-15T=)
c.54215-15T= (n.54215-15T=)
c.51257-15T= (n.51257-15T=)
c.32873-15T= (n.32873-15T=)
c.54368-15T= (n.54368-15T=)
c.54365-15T= (n.54365-15T=)
c.53798-15T= (n.53798-15T=)
c.51140-15T= (n.51140-15T=)
c.51059-15T= (n.51059-15T=)
c.32822-15T= (n.32822-15T=)
c.22676-15T= (n.22676-15T=)
2g.178591907A>GCA1992574TTN,TTN-AS1c.52223-15T>C (n.52223-15T>C)
c.33308-15T>C (n.33308-15T>C)
c.33107-15T>C (n.33107-15T>C)
c.32732-15T>C (n.32732-15T>C)
c.59927-15T>C (n.59927-15T>C)
c.55004-15T>C (n.55004-15T>C)
n.597-5689A>G
n.3364+593A>G
c.59024-15T>C (n.59024-15T>C)
c.32918-15T>C (n.32918-15T>C)
c.32777-15T>C (n.32777-15T>C)
c.58820-15T>C (n.58820-15T>C)
c.54218-15T>C (n.54218-15T>C)
c.54215-15T>C (n.54215-15T>C)
c.51257-15T>C (n.51257-15T>C)
c.32873-15T>C (n.32873-15T>C)
c.54368-15T>C (n.54368-15T>C)
c.54365-15T>C (n.54365-15T>C)
c.53798-15T>C (n.53798-15T>C)
c.51140-15T>C (n.51140-15T>C)
c.51059-15T>C (n.51059-15T>C)
c.32822-15T>C (n.32822-15T>C)
c.22676-15T>C (n.22676-15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178591908G>ACA761290776TTN,TTN-AS1c.52223-16C>T (n.52223-16C>T)
c.33308-16C>T (n.33308-16C>T)
c.33107-16C>T (n.33107-16C>T)
c.32732-16C>T (n.32732-16C>T)
c.59927-16C>T (n.59927-16C>T)
c.55004-16C>T (n.55004-16C>T)
n.597-5688G>A
n.3364+594G>A
c.59024-16C>T (n.59024-16C>T)
c.32918-16C>T (n.32918-16C>T)
c.32777-16C>T (n.32777-16C>T)
c.58820-16C>T (n.58820-16C>T)
c.54218-16C>T (n.54218-16C>T)
c.54215-16C>T (n.54215-16C>T)
c.51257-16C>T (n.51257-16C>T)
c.32873-16C>T (n.32873-16C>T)
c.54368-16C>T (n.54368-16C>T)
c.54365-16C>T (n.54365-16C>T)
c.53798-16C>T (n.53798-16C>T)
c.51140-16C>T (n.51140-16C>T)
c.51059-16C>T (n.51059-16C>T)
c.32822-16C>T (n.32822-16C>T)
c.22676-16C>T (n.22676-16C>T)
 dbSNP
2g.178591908G>CCA2740096105TTN,TTN-AS1c.52223-16C>G (n.52223-16C>G)
c.33308-16C>G (n.33308-16C>G)
c.33107-16C>G (n.33107-16C>G)
c.32732-16C>G (n.32732-16C>G)
c.59927-16C>G (n.59927-16C>G)
c.55004-16C>G (n.55004-16C>G)
n.597-5688G>C
n.3364+594G>C
c.59024-16C>G (n.59024-16C>G)
c.32918-16C>G (n.32918-16C>G)
c.32777-16C>G (n.32777-16C>G)
c.58820-16C>G (n.58820-16C>G)
c.54218-16C>G (n.54218-16C>G)
c.54215-16C>G (n.54215-16C>G)
c.51257-16C>G (n.51257-16C>G)
c.32873-16C>G (n.32873-16C>G)
c.54368-16C>G (n.54368-16C>G)
c.54365-16C>G (n.54365-16C>G)
c.53798-16C>G (n.53798-16C>G)
c.51140-16C>G (n.51140-16C>G)
c.51059-16C>G (n.51059-16C>G)
c.32822-16C>G (n.32822-16C>G)
c.22676-16C>G (n.22676-16C>G)
 ClinVar
2g.178591908G=CA1310540461TTN,TTN-AS1c.52223-16C= (n.52223-16C=)
c.33308-16C= (n.33308-16C=)
c.33107-16C= (n.33107-16C=)
c.32732-16C= (n.32732-16C=)
c.59927-16C= (n.59927-16C=)
c.55004-16C= (n.55004-16C=)
n.597-5688G=
n.3364+594G=
c.59024-16C= (n.59024-16C=)
c.32918-16C= (n.32918-16C=)
c.32777-16C= (n.32777-16C=)
c.58820-16C= (n.58820-16C=)
c.54218-16C= (n.54218-16C=)
c.54215-16C= (n.54215-16C=)
c.51257-16C= (n.51257-16C=)
c.32873-16C= (n.32873-16C=)
c.54368-16C= (n.54368-16C=)
c.54365-16C= (n.54365-16C=)
c.53798-16C= (n.53798-16C=)
c.51140-16C= (n.51140-16C=)
c.51059-16C= (n.51059-16C=)
c.32822-16C= (n.32822-16C=)
c.22676-16C= (n.22676-16C=)
2g.178591909T>ACA2577171170TTN,TTN-AS1c.52223-17A>T (n.52223-17A>T)
c.33308-17A>T (n.33308-17A>T)
c.33107-17A>T (n.33107-17A>T)
c.32732-17A>T (n.32732-17A>T)
c.59927-17A>T (n.59927-17A>T)
c.55004-17A>T (n.55004-17A>T)
n.597-5687T>A
n.3364+595T>A
c.59024-17A>T (n.59024-17A>T)
c.32918-17A>T (n.32918-17A>T)
c.32777-17A>T (n.32777-17A>T)
c.58820-17A>T (n.58820-17A>T)
c.54218-17A>T (n.54218-17A>T)
c.54215-17A>T (n.54215-17A>T)
c.51257-17A>T (n.51257-17A>T)
c.32873-17A>T (n.32873-17A>T)
c.54368-17A>T (n.54368-17A>T)
c.54365-17A>T (n.54365-17A>T)
c.53798-17A>T (n.53798-17A>T)
c.51140-17A>T (n.51140-17A>T)
c.51059-17A>T (n.51059-17A>T)
c.32822-17A>T (n.32822-17A>T)
c.22676-17A>T (n.22676-17A>T)
2g.178591910T>GCA2580064871TTN,TTN-AS1c.52223-18A>C (n.52223-18A>C)
c.33308-18A>C (n.33308-18A>C)
c.33107-18A>C (n.33107-18A>C)
c.32732-18A>C (n.32732-18A>C)
c.59927-18A>C (n.59927-18A>C)
c.55004-18A>C (n.55004-18A>C)
n.597-5686T>G
n.3364+596T>G
c.59024-18A>C (n.59024-18A>C)
c.32918-18A>C (n.32918-18A>C)
c.32777-18A>C (n.32777-18A>C)
c.58820-18A>C (n.58820-18A>C)
c.54218-18A>C (n.54218-18A>C)
c.54215-18A>C (n.54215-18A>C)
c.51257-18A>C (n.51257-18A>C)
c.32873-18A>C (n.32873-18A>C)
c.54368-18A>C (n.54368-18A>C)
c.54365-18A>C (n.54365-18A>C)
c.53798-18A>C (n.53798-18A>C)
c.51140-18A>C (n.51140-18A>C)
c.51059-18A>C (n.51059-18A>C)
c.32822-18A>C (n.32822-18A>C)
c.22676-18A>C (n.22676-18A>C)
 ClinVar
2g.178591911A=CA1310540463TTN,TTN-AS1c.52223-19T= (n.52223-19T=)
c.33308-19T= (n.33308-19T=)
c.33107-19T= (n.33107-19T=)
c.32732-19T= (n.32732-19T=)
c.59927-19T= (n.59927-19T=)
c.55004-19T= (n.55004-19T=)
n.597-5685A=
n.3364+597A=
c.59024-19T= (n.59024-19T=)
c.32918-19T= (n.32918-19T=)
c.32777-19T= (n.32777-19T=)
c.58820-19T= (n.58820-19T=)
c.54218-19T= (n.54218-19T=)
c.54215-19T= (n.54215-19T=)
c.51257-19T= (n.51257-19T=)
c.32873-19T= (n.32873-19T=)
c.54368-19T= (n.54368-19T=)
c.54365-19T= (n.54365-19T=)
c.53798-19T= (n.53798-19T=)
c.51140-19T= (n.51140-19T=)
c.51059-19T= (n.51059-19T=)
c.32822-19T= (n.32822-19T=)
c.22676-19T= (n.22676-19T=)
2g.178591911A>GCA2580064872TTN,TTN-AS1c.52223-19T>C (n.52223-19T>C)
c.33308-19T>C (n.33308-19T>C)
c.33107-19T>C (n.33107-19T>C)
c.32732-19T>C (n.32732-19T>C)
c.59927-19T>C (n.59927-19T>C)
c.55004-19T>C (n.55004-19T>C)
n.597-5685A>G
n.3364+597A>G
c.59024-19T>C (n.59024-19T>C)
c.32918-19T>C (n.32918-19T>C)
c.32777-19T>C (n.32777-19T>C)
c.58820-19T>C (n.58820-19T>C)
c.54218-19T>C (n.54218-19T>C)
c.54215-19T>C (n.54215-19T>C)
c.51257-19T>C (n.51257-19T>C)
c.32873-19T>C (n.32873-19T>C)
c.54368-19T>C (n.54368-19T>C)
c.54365-19T>C (n.54365-19T>C)
c.53798-19T>C (n.53798-19T>C)
c.51140-19T>C (n.51140-19T>C)
c.51059-19T>C (n.51059-19T>C)
c.32822-19T>C (n.32822-19T>C)
c.22676-19T>C (n.22676-19T>C)
 ClinVar
2g.178591911A>TCA1992575TTN,TTN-AS1c.52223-19T>A (n.52223-19T>A)
c.33308-19T>A (n.33308-19T>A)
c.33107-19T>A (n.33107-19T>A)
c.32732-19T>A (n.32732-19T>A)
c.59927-19T>A (n.59927-19T>A)
c.55004-19T>A (n.55004-19T>A)
n.597-5685A>T
n.3364+597A>T
c.59024-19T>A (n.59024-19T>A)
c.32918-19T>A (n.32918-19T>A)
c.32777-19T>A (n.32777-19T>A)
c.58820-19T>A (n.58820-19T>A)
c.54218-19T>A (n.54218-19T>A)
c.54215-19T>A (n.54215-19T>A)
c.51257-19T>A (n.51257-19T>A)
c.32873-19T>A (n.32873-19T>A)
c.54368-19T>A (n.54368-19T>A)
c.54365-19T>A (n.54365-19T>A)
c.53798-19T>A (n.53798-19T>A)
c.51140-19T>A (n.51140-19T>A)
c.51059-19T>A (n.51059-19T>A)
c.32822-19T>A (n.32822-19T>A)
c.22676-19T>A (n.22676-19T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591915_178591917delCA2662130827TTN,TTN-AS1c.52223-21_52223-19del (n.52223-21_52223-19del)
c.33308-21_33308-19del (n.33308-21_33308-19del)
c.33107-21_33107-19del (n.33107-21_33107-19del)
c.32732-21_32732-19del (n.32732-21_32732-19del)
c.59927-21_59927-19del (n.59927-21_59927-19del)
c.55004-21_55004-19del (n.55004-21_55004-19del)
n.597-5681_597-5679del
n.3364+601_3364+603del
c.59024-21_59024-19del (n.59024-21_59024-19del)
c.32918-21_32918-19del (n.32918-21_32918-19del)
c.32777-21_32777-19del (n.32777-21_32777-19del)
c.58820-21_58820-19del (n.58820-21_58820-19del)
c.54218-21_54218-19del (n.54218-21_54218-19del)
c.54215-21_54215-19del (n.54215-21_54215-19del)
c.51257-21_51257-19del (n.51257-21_51257-19del)
c.32873-21_32873-19del (n.32873-21_32873-19del)
c.54368-21_54368-19del (n.54368-21_54368-19del)
c.54365-21_54365-19del (n.54365-21_54365-19del)
c.53798-21_53798-19del (n.53798-21_53798-19del)
c.51140-21_51140-19del (n.51140-21_51140-19del)
c.51059-21_51059-19del (n.51059-21_51059-19del)
c.32822-21_32822-19del (n.32822-21_32822-19del)
c.22676-21_22676-19del (n.22676-21_22676-19del)
 gnomAD v4
2g.178591912T>CCA1992576TTN,TTN-AS1c.52223-20A>G (n.52223-20A>G)
c.33308-20A>G (n.33308-20A>G)
c.33107-20A>G (n.33107-20A>G)
c.32732-20A>G (n.32732-20A>G)
c.59927-20A>G (n.59927-20A>G)
c.55004-20A>G (n.55004-20A>G)
n.597-5684T>C
n.3364+598T>C
c.59024-20A>G (n.59024-20A>G)
c.32918-20A>G (n.32918-20A>G)
c.32777-20A>G (n.32777-20A>G)
c.58820-20A>G (n.58820-20A>G)
c.54218-20A>G (n.54218-20A>G)
c.54215-20A>G (n.54215-20A>G)
c.51257-20A>G (n.51257-20A>G)
c.32873-20A>G (n.32873-20A>G)
c.54368-20A>G (n.54368-20A>G)
c.54365-20A>G (n.54365-20A>G)
c.53798-20A>G (n.53798-20A>G)
c.51140-20A>G (n.51140-20A>G)
c.51059-20A>G (n.51059-20A>G)
c.32822-20A>G (n.32822-20A>G)
c.22676-20A>G (n.22676-20A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591912T>GCA761290777TTN,TTN-AS1c.52223-20A>C (n.52223-20A>C)
c.33308-20A>C (n.33308-20A>C)
c.33107-20A>C (n.33107-20A>C)
c.32732-20A>C (n.32732-20A>C)
c.59927-20A>C (n.59927-20A>C)
c.55004-20A>C (n.55004-20A>C)
n.597-5684T>G
n.3364+598T>G
c.59024-20A>C (n.59024-20A>C)
c.32918-20A>C (n.32918-20A>C)
c.32777-20A>C (n.32777-20A>C)
c.58820-20A>C (n.58820-20A>C)
c.54218-20A>C (n.54218-20A>C)
c.54215-20A>C (n.54215-20A>C)
c.51257-20A>C (n.51257-20A>C)
c.32873-20A>C (n.32873-20A>C)
c.54368-20A>C (n.54368-20A>C)
c.54365-20A>C (n.54365-20A>C)
c.53798-20A>C (n.53798-20A>C)
c.51140-20A>C (n.51140-20A>C)
c.51059-20A>C (n.51059-20A>C)
c.32822-20A>C (n.32822-20A>C)
c.22676-20A>C (n.22676-20A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178591912T=CA1310540466TTN,TTN-AS1c.52223-20A= (n.52223-20A=)
c.33308-20A= (n.33308-20A=)
c.33107-20A= (n.33107-20A=)
c.32732-20A= (n.32732-20A=)
c.59927-20A= (n.59927-20A=)
c.55004-20A= (n.55004-20A=)
n.597-5684T=
n.3364+598T=
c.59024-20A= (n.59024-20A=)
c.32918-20A= (n.32918-20A=)
c.32777-20A= (n.32777-20A=)
c.58820-20A= (n.58820-20A=)
c.54218-20A= (n.54218-20A=)
c.54215-20A= (n.54215-20A=)
c.51257-20A= (n.51257-20A=)
c.32873-20A= (n.32873-20A=)
c.54368-20A= (n.54368-20A=)
c.54365-20A= (n.54365-20A=)
c.53798-20A= (n.53798-20A=)
c.51140-20A= (n.51140-20A=)
c.51059-20A= (n.51059-20A=)
c.32822-20A= (n.32822-20A=)
c.22676-20A= (n.22676-20A=)
2g.178591913G>ACA2662130828TTN,TTN-AS1c.52223-21C>T (n.52223-21C>T)
c.33308-21C>T (n.33308-21C>T)
c.33107-21C>T (n.33107-21C>T)
c.32732-21C>T (n.32732-21C>T)
c.59927-21C>T (n.59927-21C>T)
c.55004-21C>T (n.55004-21C>T)
n.597-5683G>A
n.3364+599G>A
c.59024-21C>T (n.59024-21C>T)
c.32918-21C>T (n.32918-21C>T)
c.32777-21C>T (n.32777-21C>T)
c.58820-21C>T (n.58820-21C>T)
c.54218-21C>T (n.54218-21C>T)
c.54215-21C>T (n.54215-21C>T)
c.51257-21C>T (n.51257-21C>T)
c.32873-21C>T (n.32873-21C>T)
c.54368-21C>T (n.54368-21C>T)
c.54365-21C>T (n.54365-21C>T)
c.53798-21C>T (n.53798-21C>T)
c.51140-21C>T (n.51140-21C>T)
c.51059-21C>T (n.51059-21C>T)
c.32822-21C>T (n.32822-21C>T)
c.22676-21C>T (n.22676-21C>T)
 gnomAD v4
2g.178591914A>GCA2662130829TTN,TTN-AS1c.52223-22T>C (n.52223-22T>C)
c.33308-22T>C (n.33308-22T>C)
c.33107-22T>C (n.33107-22T>C)
c.32732-22T>C (n.32732-22T>C)
c.59927-22T>C (n.59927-22T>C)
c.55004-22T>C (n.55004-22T>C)
n.597-5682A>G
n.3364+600A>G
c.59024-22T>C (n.59024-22T>C)
c.32918-22T>C (n.32918-22T>C)
c.32777-22T>C (n.32777-22T>C)
c.58820-22T>C (n.58820-22T>C)
c.54218-22T>C (n.54218-22T>C)
c.54215-22T>C (n.54215-22T>C)
c.51257-22T>C (n.51257-22T>C)
c.32873-22T>C (n.32873-22T>C)
c.54368-22T>C (n.54368-22T>C)
c.54365-22T>C (n.54365-22T>C)
c.53798-22T>C (n.53798-22T>C)
c.51140-22T>C (n.51140-22T>C)
c.51059-22T>C (n.51059-22T>C)
c.32822-22T>C (n.32822-22T>C)
c.22676-22T>C (n.22676-22T>C)
 gnomAD v4
2g.178591915T>ACA2662130830TTN,TTN-AS1c.52223-23A>T (n.52223-23A>T)
c.33308-23A>T (n.33308-23A>T)
c.33107-23A>T (n.33107-23A>T)
c.32732-23A>T (n.32732-23A>T)
c.59927-23A>T (n.59927-23A>T)
c.55004-23A>T (n.55004-23A>T)
n.597-5681T>A
n.3364+601T>A
c.59024-23A>T (n.59024-23A>T)
c.32918-23A>T (n.32918-23A>T)
c.32777-23A>T (n.32777-23A>T)
c.58820-23A>T (n.58820-23A>T)
c.54218-23A>T (n.54218-23A>T)
c.54215-23A>T (n.54215-23A>T)
c.51257-23A>T (n.51257-23A>T)
c.32873-23A>T (n.32873-23A>T)
c.54368-23A>T (n.54368-23A>T)
c.54365-23A>T (n.54365-23A>T)
c.53798-23A>T (n.53798-23A>T)
c.51140-23A>T (n.51140-23A>T)
c.51059-23A>T (n.51059-23A>T)
c.32822-23A>T (n.32822-23A>T)
c.22676-23A>T (n.22676-23A>T)
 gnomAD v4
2g.178591915T>CCA2577171171TTN,TTN-AS1c.52223-23A>G (n.52223-23A>G)
c.33308-23A>G (n.33308-23A>G)
c.33107-23A>G (n.33107-23A>G)
c.32732-23A>G (n.32732-23A>G)
c.59927-23A>G (n.59927-23A>G)
c.55004-23A>G (n.55004-23A>G)
n.597-5681T>C
n.3364+601T>C
c.59024-23A>G (n.59024-23A>G)
c.32918-23A>G (n.32918-23A>G)
c.32777-23A>G (n.32777-23A>G)
c.58820-23A>G (n.58820-23A>G)
c.54218-23A>G (n.54218-23A>G)
c.54215-23A>G (n.54215-23A>G)
c.51257-23A>G (n.51257-23A>G)
c.32873-23A>G (n.32873-23A>G)
c.54368-23A>G (n.54368-23A>G)
c.54365-23A>G (n.54365-23A>G)
c.53798-23A>G (n.53798-23A>G)
c.51140-23A>G (n.51140-23A>G)
c.51059-23A>G (n.51059-23A>G)
c.32822-23A>G (n.32822-23A>G)
c.22676-23A>G (n.22676-23A>G)
 gnomAD v4
2g.178591916G>ACA1310540470TTN,TTN-AS1c.52223-24C>T (n.52223-24C>T)
c.33308-24C>T (n.33308-24C>T)
c.33107-24C>T (n.33107-24C>T)
c.32732-24C>T (n.32732-24C>T)
c.59927-24C>T (n.59927-24C>T)
c.55004-24C>T (n.55004-24C>T)
n.597-5680G>A
n.3364+602G>A
c.59024-24C>T (n.59024-24C>T)
c.32918-24C>T (n.32918-24C>T)
c.32777-24C>T (n.32777-24C>T)
c.58820-24C>T (n.58820-24C>T)
c.54218-24C>T (n.54218-24C>T)
c.54215-24C>T (n.54215-24C>T)
c.51257-24C>T (n.51257-24C>T)
c.32873-24C>T (n.32873-24C>T)
c.54368-24C>T (n.54368-24C>T)
c.54365-24C>T (n.54365-24C>T)
c.53798-24C>T (n.53798-24C>T)
c.51140-24C>T (n.51140-24C>T)
c.51059-24C>T (n.51059-24C>T)
c.32822-24C>T (n.32822-24C>T)
c.22676-24C>T (n.22676-24C>T)
 dbSNP gnomAD v4
2g.178591916G=CA1310540469TTN,TTN-AS1c.52223-24C= (n.52223-24C=)
c.33308-24C= (n.33308-24C=)
c.33107-24C= (n.33107-24C=)
c.32732-24C= (n.32732-24C=)
c.59927-24C= (n.59927-24C=)
c.55004-24C= (n.55004-24C=)
n.597-5680G=
n.3364+602G=
c.59024-24C= (n.59024-24C=)
c.32918-24C= (n.32918-24C=)
c.32777-24C= (n.32777-24C=)
c.58820-24C= (n.58820-24C=)
c.54218-24C= (n.54218-24C=)
c.54215-24C= (n.54215-24C=)
c.51257-24C= (n.51257-24C=)
c.32873-24C= (n.32873-24C=)
c.54368-24C= (n.54368-24C=)
c.54365-24C= (n.54365-24C=)
c.53798-24C= (n.53798-24C=)
c.51140-24C= (n.51140-24C=)
c.51059-24C= (n.51059-24C=)
c.32822-24C= (n.32822-24C=)
c.22676-24C= (n.22676-24C=)
2g.178591916_178591917delinsGACA1310540468TTN,TTN-AS1c.52223-25_52223-24delinsTC (n.52223-25_52223-24delinsTC)
c.33308-25_33308-24delinsTC (n.33308-25_33308-24delinsTC)
c.33107-25_33107-24delinsTC (n.33107-25_33107-24delinsTC)
c.32732-25_32732-24delinsTC (n.32732-25_32732-24delinsTC)
c.59927-25_59927-24delinsTC (n.59927-25_59927-24delinsTC)
c.55004-25_55004-24delinsTC (n.55004-25_55004-24delinsTC)
n.597-5680_597-5679delinsGA
n.3364+602_3364+603delinsGA
c.59024-25_59024-24delinsTC (n.59024-25_59024-24delinsTC)
c.32918-25_32918-24delinsTC (n.32918-25_32918-24delinsTC)
c.32777-25_32777-24delinsTC (n.32777-25_32777-24delinsTC)
c.58820-25_58820-24delinsTC (n.58820-25_58820-24delinsTC)
c.54218-25_54218-24delinsTC (n.54218-25_54218-24delinsTC)
c.54215-25_54215-24delinsTC (n.54215-25_54215-24delinsTC)
c.51257-25_51257-24delinsTC (n.51257-25_51257-24delinsTC)
c.32873-25_32873-24delinsTC (n.32873-25_32873-24delinsTC)
c.54368-25_54368-24delinsTC (n.54368-25_54368-24delinsTC)
c.54365-25_54365-24delinsTC (n.54365-25_54365-24delinsTC)
c.53798-25_53798-24delinsTC (n.53798-25_53798-24delinsTC)
c.51140-25_51140-24delinsTC (n.51140-25_51140-24delinsTC)
c.51059-25_51059-24delinsTC (n.51059-25_51059-24delinsTC)
c.32822-25_32822-24delinsTC (n.32822-25_32822-24delinsTC)
c.22676-25_22676-24delinsTC (n.22676-25_22676-24delinsTC)
2g.178591917A=CA1310540471TTN,TTN-AS1c.52223-25T= (n.52223-25T=)
c.33308-25T= (n.33308-25T=)
c.33107-25T= (n.33107-25T=)
c.32732-25T= (n.32732-25T=)
c.59927-25T= (n.59927-25T=)
c.55004-25T= (n.55004-25T=)
n.597-5679A=
n.3364+603A=
c.59024-25T= (n.59024-25T=)
c.32918-25T= (n.32918-25T=)
c.32777-25T= (n.32777-25T=)
c.58820-25T= (n.58820-25T=)
c.54218-25T= (n.54218-25T=)
c.54215-25T= (n.54215-25T=)
c.51257-25T= (n.51257-25T=)
c.32873-25T= (n.32873-25T=)
c.54368-25T= (n.54368-25T=)
c.54365-25T= (n.54365-25T=)
c.53798-25T= (n.53798-25T=)
c.51140-25T= (n.51140-25T=)
c.51059-25T= (n.51059-25T=)
c.32822-25T= (n.32822-25T=)
c.22676-25T= (n.22676-25T=)
2g.178591917A>GCA538435581TTN,TTN-AS1c.52223-25T>C (n.52223-25T>C)
c.33308-25T>C (n.33308-25T>C)
c.33107-25T>C (n.33107-25T>C)
c.32732-25T>C (n.32732-25T>C)
c.59927-25T>C (n.59927-25T>C)
c.55004-25T>C (n.55004-25T>C)
n.597-5679A>G
n.3364+603A>G
c.59024-25T>C (n.59024-25T>C)
c.32918-25T>C (n.32918-25T>C)
c.32777-25T>C (n.32777-25T>C)
c.58820-25T>C (n.58820-25T>C)
c.54218-25T>C (n.54218-25T>C)
c.54215-25T>C (n.54215-25T>C)
c.51257-25T>C (n.51257-25T>C)
c.32873-25T>C (n.32873-25T>C)
c.54368-25T>C (n.54368-25T>C)
c.54365-25T>C (n.54365-25T>C)
c.53798-25T>C (n.53798-25T>C)
c.51140-25T>C (n.51140-25T>C)
c.51059-25T>C (n.51059-25T>C)
c.32822-25T>C (n.32822-25T>C)
c.22676-25T>C (n.22676-25T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178591921delCA761290778TTN,TTN-AS1c.52223-25del (n.52223-25del)
c.33308-25del (n.33308-25del)
c.33107-25del (n.33107-25del)
c.32732-25del (n.32732-25del)
c.59927-25del (n.59927-25del)
c.55004-25del (n.55004-25del)
n.597-5675del
n.3364+607del
c.59024-25del (n.59024-25del)
c.32918-25del (n.32918-25del)
c.32777-25del (n.32777-25del)
c.58820-25del (n.58820-25del)
c.54218-25del (n.54218-25del)
c.54215-25del (n.54215-25del)
c.51257-25del (n.51257-25del)
c.32873-25del (n.32873-25del)
c.54368-25del (n.54368-25del)
c.54365-25del (n.54365-25del)
c.53798-25del (n.53798-25del)
c.51140-25del (n.51140-25del)
c.51059-25del (n.51059-25del)
c.32822-25del (n.32822-25del)
c.22676-25del (n.22676-25del)
 dbSNP gnomAD v3 gnomAD v4
2g.178591921A=CA1310540472TTN,TTN-AS1c.52223-29T= (n.52223-29T=)
c.33308-29T= (n.33308-29T=)
c.33107-29T= (n.33107-29T=)
c.32732-29T= (n.32732-29T=)
c.59927-29T= (n.59927-29T=)
c.55004-29T= (n.55004-29T=)
n.597-5675A=
n.3364+607A=
c.59024-29T= (n.59024-29T=)
c.32918-29T= (n.32918-29T=)
c.32777-29T= (n.32777-29T=)
c.58820-29T= (n.58820-29T=)
c.54218-29T= (n.54218-29T=)
c.54215-29T= (n.54215-29T=)
c.51257-29T= (n.51257-29T=)
c.32873-29T= (n.32873-29T=)
c.54368-29T= (n.54368-29T=)
c.54365-29T= (n.54365-29T=)
c.53798-29T= (n.53798-29T=)
c.51140-29T= (n.51140-29T=)
c.51059-29T= (n.51059-29T=)
c.32822-29T= (n.32822-29T=)
c.22676-29T= (n.22676-29T=)
2g.178591921A>GCA1310540473TTN,TTN-AS1c.52223-29T>C (n.52223-29T>C)
c.33308-29T>C (n.33308-29T>C)
c.33107-29T>C (n.33107-29T>C)
c.32732-29T>C (n.32732-29T>C)
c.59927-29T>C (n.59927-29T>C)
c.55004-29T>C (n.55004-29T>C)
n.597-5675A>G
n.3364+607A>G
c.59024-29T>C (n.59024-29T>C)
c.32918-29T>C (n.32918-29T>C)
c.32777-29T>C (n.32777-29T>C)
c.58820-29T>C (n.58820-29T>C)
c.54218-29T>C (n.54218-29T>C)
c.54215-29T>C (n.54215-29T>C)
c.51257-29T>C (n.51257-29T>C)
c.32873-29T>C (n.32873-29T>C)
c.54368-29T>C (n.54368-29T>C)
c.54365-29T>C (n.54365-29T>C)
c.53798-29T>C (n.53798-29T>C)
c.51140-29T>C (n.51140-29T>C)
c.51059-29T>C (n.51059-29T>C)
c.32822-29T>C (n.32822-29T>C)
c.22676-29T>C (n.22676-29T>C)
 dbSNP gnomAD v4
2g.178591921A>TCA647466332TTN,TTN-AS1c.52223-29T>A (n.52223-29T>A)
c.33308-29T>A (n.33308-29T>A)
c.33107-29T>A (n.33107-29T>A)
c.32732-29T>A (n.32732-29T>A)
c.59927-29T>A (n.59927-29T>A)
c.55004-29T>A (n.55004-29T>A)
n.597-5675A>T
n.3364+607A>T
c.59024-29T>A (n.59024-29T>A)
c.32918-29T>A (n.32918-29T>A)
c.32777-29T>A (n.32777-29T>A)
c.58820-29T>A (n.58820-29T>A)
c.54218-29T>A (n.54218-29T>A)
c.54215-29T>A (n.54215-29T>A)
c.51257-29T>A (n.51257-29T>A)
c.32873-29T>A (n.32873-29T>A)
c.54368-29T>A (n.54368-29T>A)
c.54365-29T>A (n.54365-29T>A)
c.53798-29T>A (n.53798-29T>A)
c.51140-29T>A (n.51140-29T>A)
c.51059-29T>A (n.51059-29T>A)
c.32822-29T>A (n.32822-29T>A)
c.22676-29T>A (n.22676-29T>A)
 COSMIC
2g.178591922G>ACA2509766010TTN,TTN-AS1c.52223-30C>T (n.52223-30C>T)
c.33308-30C>T (n.33308-30C>T)
c.33107-30C>T (n.33107-30C>T)
c.32732-30C>T (n.32732-30C>T)
c.59927-30C>T (n.59927-30C>T)
c.55004-30C>T (n.55004-30C>T)
n.597-5674G>A
n.3364+608G>A
c.59024-30C>T (n.59024-30C>T)
c.32918-30C>T (n.32918-30C>T)
c.32777-30C>T (n.32777-30C>T)
c.58820-30C>T (n.58820-30C>T)
c.54218-30C>T (n.54218-30C>T)
c.54215-30C>T (n.54215-30C>T)
c.51257-30C>T (n.51257-30C>T)
c.32873-30C>T (n.32873-30C>T)
c.54368-30C>T (n.54368-30C>T)
c.54365-30C>T (n.54365-30C>T)
c.53798-30C>T (n.53798-30C>T)
c.51140-30C>T (n.51140-30C>T)
c.51059-30C>T (n.51059-30C>T)
c.32822-30C>T (n.32822-30C>T)
c.22676-30C>T (n.22676-30C>T)
2g.178591922G>CCA2662130832TTN,TTN-AS1c.52223-30C>G (n.52223-30C>G)
c.33308-30C>G (n.33308-30C>G)
c.33107-30C>G (n.33107-30C>G)
c.32732-30C>G (n.32732-30C>G)
c.59927-30C>G (n.59927-30C>G)
c.55004-30C>G (n.55004-30C>G)
n.597-5674G>C
n.3364+608G>C
c.59024-30C>G (n.59024-30C>G)
c.32918-30C>G (n.32918-30C>G)
c.32777-30C>G (n.32777-30C>G)
c.58820-30C>G (n.58820-30C>G)
c.54218-30C>G (n.54218-30C>G)
c.54215-30C>G (n.54215-30C>G)
c.51257-30C>G (n.51257-30C>G)
c.32873-30C>G (n.32873-30C>G)
c.54368-30C>G (n.54368-30C>G)
c.54365-30C>G (n.54365-30C>G)
c.53798-30C>G (n.53798-30C>G)
c.51140-30C>G (n.51140-30C>G)
c.51059-30C>G (n.51059-30C>G)
c.32822-30C>G (n.32822-30C>G)
c.22676-30C>G (n.22676-30C>G)
 gnomAD v4
2g.178591923T>CCA2662130833TTN,TTN-AS1c.52223-31A>G (n.52223-31A>G)
c.33308-31A>G (n.33308-31A>G)
c.33107-31A>G (n.33107-31A>G)
c.32732-31A>G (n.32732-31A>G)
c.59927-31A>G (n.59927-31A>G)
c.55004-31A>G (n.55004-31A>G)
n.597-5673T>C
n.3364+609T>C
c.59024-31A>G (n.59024-31A>G)
c.32918-31A>G (n.32918-31A>G)
c.32777-31A>G (n.32777-31A>G)
c.58820-31A>G (n.58820-31A>G)
c.54218-31A>G (n.54218-31A>G)
c.54215-31A>G (n.54215-31A>G)
c.51257-31A>G (n.51257-31A>G)
c.32873-31A>G (n.32873-31A>G)
c.54368-31A>G (n.54368-31A>G)
c.54365-31A>G (n.54365-31A>G)
c.53798-31A>G (n.53798-31A>G)
c.51140-31A>G (n.51140-31A>G)
c.51059-31A>G (n.51059-31A>G)
c.32822-31A>G (n.32822-31A>G)
c.22676-31A>G (n.22676-31A>G)
 gnomAD v4
2g.178591925A>GCA2517469927TTN,TTN-AS1c.52223-33T>C (n.52223-33T>C)
c.33308-33T>C (n.33308-33T>C)
c.33107-33T>C (n.33107-33T>C)
c.32732-33T>C (n.32732-33T>C)
c.59927-33T>C (n.59927-33T>C)
c.55004-33T>C (n.55004-33T>C)
n.597-5671A>G
n.3364+611A>G
c.59024-33T>C (n.59024-33T>C)
c.32918-33T>C (n.32918-33T>C)
c.32777-33T>C (n.32777-33T>C)
c.58820-33T>C (n.58820-33T>C)
c.54218-33T>C (n.54218-33T>C)
c.54215-33T>C (n.54215-33T>C)
c.51257-33T>C (n.51257-33T>C)
c.32873-33T>C (n.32873-33T>C)
c.54368-33T>C (n.54368-33T>C)
c.54365-33T>C (n.54365-33T>C)
c.53798-33T>C (n.53798-33T>C)
c.51140-33T>C (n.51140-33T>C)
c.51059-33T>C (n.51059-33T>C)
c.32822-33T>C (n.32822-33T>C)
c.22676-33T>C (n.22676-33T>C)
2g.178591926T>CCA1039713350TTN,TTN-AS1c.52223-34A>G (n.52223-34A>G)
c.33308-34A>G (n.33308-34A>G)
c.33107-34A>G (n.33107-34A>G)
c.32732-34A>G (n.32732-34A>G)
c.59927-34A>G (n.59927-34A>G)
c.55004-34A>G (n.55004-34A>G)
n.597-5670T>C
n.3364+612T>C
c.59024-34A>G (n.59024-34A>G)
c.32918-34A>G (n.32918-34A>G)
c.32777-34A>G (n.32777-34A>G)
c.58820-34A>G (n.58820-34A>G)
c.54218-34A>G (n.54218-34A>G)
c.54215-34A>G (n.54215-34A>G)
c.51257-34A>G (n.51257-34A>G)
c.32873-34A>G (n.32873-34A>G)
c.54368-34A>G (n.54368-34A>G)
c.54365-34A>G (n.54365-34A>G)
c.53798-34A>G (n.53798-34A>G)
c.51140-34A>G (n.51140-34A>G)
c.51059-34A>G (n.51059-34A>G)
c.32822-34A>G (n.32822-34A>G)
c.22676-34A>G (n.22676-34A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.178591926T=CA1310540475TTN,TTN-AS1c.52223-34A= (n.52223-34A=)
c.33308-34A= (n.33308-34A=)
c.33107-34A= (n.33107-34A=)
c.32732-34A= (n.32732-34A=)
c.59927-34A= (n.59927-34A=)
c.55004-34A= (n.55004-34A=)
n.597-5670T=
n.3364+612T=
c.59024-34A= (n.59024-34A=)
c.32918-34A= (n.32918-34A=)
c.32777-34A= (n.32777-34A=)
c.58820-34A= (n.58820-34A=)
c.54218-34A= (n.54218-34A=)
c.54215-34A= (n.54215-34A=)
c.51257-34A= (n.51257-34A=)
c.32873-34A= (n.32873-34A=)
c.54368-34A= (n.54368-34A=)
c.54365-34A= (n.54365-34A=)
c.53798-34A= (n.53798-34A=)
c.51140-34A= (n.51140-34A=)
c.51059-34A= (n.51059-34A=)
c.32822-34A= (n.32822-34A=)
c.22676-34A= (n.22676-34A=)
2g.178591927A=CA1310540476TTN,TTN-AS1c.52223-35T= (n.52223-35T=)
c.33308-35T= (n.33308-35T=)
c.33107-35T= (n.33107-35T=)
c.32732-35T= (n.32732-35T=)
c.59927-35T= (n.59927-35T=)
c.55004-35T= (n.55004-35T=)
n.597-5669A=
n.3364+613A=
c.59024-35T= (n.59024-35T=)
c.32918-35T= (n.32918-35T=)
c.32777-35T= (n.32777-35T=)
c.58820-35T= (n.58820-35T=)
c.54218-35T= (n.54218-35T=)
c.54215-35T= (n.54215-35T=)
c.51257-35T= (n.51257-35T=)
c.32873-35T= (n.32873-35T=)
c.54368-35T= (n.54368-35T=)
c.54365-35T= (n.54365-35T=)
c.53798-35T= (n.53798-35T=)
c.51140-35T= (n.51140-35T=)
c.51059-35T= (n.51059-35T=)
c.32822-35T= (n.32822-35T=)
c.22676-35T= (n.22676-35T=)
2g.178591927A>GCA538435582TTN,TTN-AS1c.52223-35T>C (n.52223-35T>C)
c.33308-35T>C (n.33308-35T>C)
c.33107-35T>C (n.33107-35T>C)
c.32732-35T>C (n.32732-35T>C)
c.59927-35T>C (n.59927-35T>C)
c.55004-35T>C (n.55004-35T>C)
n.597-5669A>G
n.3364+613A>G
c.59024-35T>C (n.59024-35T>C)
c.32918-35T>C (n.32918-35T>C)
c.32777-35T>C (n.32777-35T>C)
c.58820-35T>C (n.58820-35T>C)
c.54218-35T>C (n.54218-35T>C)
c.54215-35T>C (n.54215-35T>C)
c.51257-35T>C (n.51257-35T>C)
c.32873-35T>C (n.32873-35T>C)
c.54368-35T>C (n.54368-35T>C)
c.54365-35T>C (n.54365-35T>C)
c.53798-35T>C (n.53798-35T>C)
c.51140-35T>C (n.51140-35T>C)
c.51059-35T>C (n.51059-35T>C)
c.32822-35T>C (n.32822-35T>C)
c.22676-35T>C (n.22676-35T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178591929delCA2504681600TTN,TTN-AS1c.52223-36del (n.52223-36del)
c.33308-36del (n.33308-36del)
c.33107-36del (n.33107-36del)
c.32732-36del (n.32732-36del)
c.59927-36del (n.59927-36del)
c.55004-36del (n.55004-36del)
n.597-5667del
n.3364+615del
c.59024-36del (n.59024-36del)
c.32918-36del (n.32918-36del)
c.32777-36del (n.32777-36del)
c.58820-36del (n.58820-36del)
c.54218-36del (n.54218-36del)
c.54215-36del (n.54215-36del)
c.51257-36del (n.51257-36del)
c.32873-36del (n.32873-36del)
c.54368-36del (n.54368-36del)
c.54365-36del (n.54365-36del)
c.53798-36del (n.53798-36del)
c.51140-36del (n.51140-36del)
c.51059-36del (n.51059-36del)
c.32822-36del (n.32822-36del)
c.22676-36del (n.22676-36del)
2g.178591929T>GCA60970211TTN,TTN-AS1c.52223-37A>C (n.52223-37A>C)
c.33308-37A>C (n.33308-37A>C)
c.33107-37A>C (n.33107-37A>C)
c.32732-37A>C (n.32732-37A>C)
c.59927-37A>C (n.59927-37A>C)
c.55004-37A>C (n.55004-37A>C)
n.597-5667T>G
n.3364+615T>G
c.59024-37A>C (n.59024-37A>C)
c.32918-37A>C (n.32918-37A>C)
c.32777-37A>C (n.32777-37A>C)
c.58820-37A>C (n.58820-37A>C)
c.54218-37A>C (n.54218-37A>C)
c.54215-37A>C (n.54215-37A>C)
c.51257-37A>C (n.51257-37A>C)
c.32873-37A>C (n.32873-37A>C)
c.54368-37A>C (n.54368-37A>C)
c.54365-37A>C (n.54365-37A>C)
c.53798-37A>C (n.53798-37A>C)
c.51140-37A>C (n.51140-37A>C)
c.51059-37A>C (n.51059-37A>C)
c.32822-37A>C (n.32822-37A>C)
c.22676-37A>C (n.22676-37A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178591929T=CA1310540477TTN,TTN-AS1c.52223-37A= (n.52223-37A=)
c.33308-37A= (n.33308-37A=)
c.33107-37A= (n.33107-37A=)
c.32732-37A= (n.32732-37A=)
c.59927-37A= (n.59927-37A=)
c.55004-37A= (n.55004-37A=)
n.597-5667T=
n.3364+615T=
c.59024-37A= (n.59024-37A=)
c.32918-37A= (n.32918-37A=)
c.32777-37A= (n.32777-37A=)
c.58820-37A= (n.58820-37A=)
c.54218-37A= (n.54218-37A=)
c.54215-37A= (n.54215-37A=)
c.51257-37A= (n.51257-37A=)
c.32873-37A= (n.32873-37A=)
c.54368-37A= (n.54368-37A=)
c.54365-37A= (n.54365-37A=)
c.53798-37A= (n.53798-37A=)
c.51140-37A= (n.51140-37A=)
c.51059-37A= (n.51059-37A=)
c.32822-37A= (n.32822-37A=)
c.22676-37A= (n.22676-37A=)
2g.178591932T>CCA2662130834TTN,TTN-AS1c.52223-40A>G (n.52223-40A>G)
c.33308-40A>G (n.33308-40A>G)
c.33107-40A>G (n.33107-40A>G)
c.32732-40A>G (n.32732-40A>G)
c.59927-40A>G (n.59927-40A>G)
c.55004-40A>G (n.55004-40A>G)
n.597-5664T>C
n.3364+618T>C
c.59024-40A>G (n.59024-40A>G)
c.32918-40A>G (n.32918-40A>G)
c.32777-40A>G (n.32777-40A>G)
c.58820-40A>G (n.58820-40A>G)
c.54218-40A>G (n.54218-40A>G)
c.54215-40A>G (n.54215-40A>G)
c.51257-40A>G (n.51257-40A>G)
c.32873-40A>G (n.32873-40A>G)
c.54368-40A>G (n.54368-40A>G)
c.54365-40A>G (n.54365-40A>G)
c.53798-40A>G (n.53798-40A>G)
c.51140-40A>G (n.51140-40A>G)
c.51059-40A>G (n.51059-40A>G)
c.32822-40A>G (n.32822-40A>G)
c.22676-40A>G (n.22676-40A>G)
 gnomAD v4
2g.178591932T>GCA60970213TTN,TTN-AS1c.52223-40A>C (n.52223-40A>C)
c.33308-40A>C (n.33308-40A>C)
c.33107-40A>C (n.33107-40A>C)
c.32732-40A>C (n.32732-40A>C)
c.59927-40A>C (n.59927-40A>C)
c.55004-40A>C (n.55004-40A>C)
n.597-5664T>G
n.3364+618T>G
c.59024-40A>C (n.59024-40A>C)
c.32918-40A>C (n.32918-40A>C)
c.32777-40A>C (n.32777-40A>C)
c.58820-40A>C (n.58820-40A>C)
c.54218-40A>C (n.54218-40A>C)
c.54215-40A>C (n.54215-40A>C)
c.51257-40A>C (n.51257-40A>C)
c.32873-40A>C (n.32873-40A>C)
c.54368-40A>C (n.54368-40A>C)
c.54365-40A>C (n.54365-40A>C)
c.53798-40A>C (n.53798-40A>C)
c.51140-40A>C (n.51140-40A>C)
c.51059-40A>C (n.51059-40A>C)
c.32822-40A>C (n.32822-40A>C)
c.22676-40A>C (n.22676-40A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.178591932T=CA1310540479TTN,TTN-AS1c.52223-40A= (n.52223-40A=)
c.33308-40A= (n.33308-40A=)
c.33107-40A= (n.33107-40A=)
c.32732-40A= (n.32732-40A=)
c.59927-40A= (n.59927-40A=)
c.55004-40A= (n.55004-40A=)
n.597-5664T=
n.3364+618T=
c.59024-40A= (n.59024-40A=)
c.32918-40A= (n.32918-40A=)
c.32777-40A= (n.32777-40A=)
c.58820-40A= (n.58820-40A=)
c.54218-40A= (n.54218-40A=)
c.54215-40A= (n.54215-40A=)
c.51257-40A= (n.51257-40A=)
c.32873-40A= (n.32873-40A=)
c.54368-40A= (n.54368-40A=)
c.54365-40A= (n.54365-40A=)
c.53798-40A= (n.53798-40A=)
c.51140-40A= (n.51140-40A=)
c.51059-40A= (n.51059-40A=)
c.32822-40A= (n.32822-40A=)
c.22676-40A= (n.22676-40A=)
2g.178591932_178591933insCCA2567775021TTN,TTN-AS1c.52223-41_52223-40insG (n.52223-41_52223-40insG)
c.33308-41_33308-40insG (n.33308-41_33308-40insG)
c.33107-41_33107-40insG (n.33107-41_33107-40insG)
c.32732-41_32732-40insG (n.32732-41_32732-40insG)
c.59927-41_59927-40insG (n.59927-41_59927-40insG)
c.55004-41_55004-40insG (n.55004-41_55004-40insG)
n.597-5664_597-5663insC
n.3364+618_3364+619insC
c.59024-41_59024-40insG (n.59024-41_59024-40insG)
c.32918-41_32918-40insG (n.32918-41_32918-40insG)
c.32777-41_32777-40insG (n.32777-41_32777-40insG)
c.58820-41_58820-40insG (n.58820-41_58820-40insG)
c.54218-41_54218-40insG (n.54218-41_54218-40insG)
c.54215-41_54215-40insG (n.54215-41_54215-40insG)
c.51257-41_51257-40insG (n.51257-41_51257-40insG)
c.32873-41_32873-40insG (n.32873-41_32873-40insG)
c.54368-41_54368-40insG (n.54368-41_54368-40insG)
c.54365-41_54365-40insG (n.54365-41_54365-40insG)
c.53798-41_53798-40insG (n.53798-41_53798-40insG)
c.51140-41_51140-40insG (n.51140-41_51140-40insG)
c.51059-41_51059-40insG (n.51059-41_51059-40insG)
c.32822-41_32822-40insG (n.32822-41_32822-40insG)
c.22676-41_22676-40insG (n.22676-41_22676-40insG)
2g.178591934A>CCA2662130835TTN,TTN-AS1c.52223-42T>G (n.52223-42T>G)
c.33308-42T>G (n.33308-42T>G)
c.33107-42T>G (n.33107-42T>G)
c.32732-42T>G (n.32732-42T>G)
c.59927-42T>G (n.59927-42T>G)
c.55004-42T>G (n.55004-42T>G)
n.597-5662A>C
n.3364+620A>C
c.59024-42T>G (n.59024-42T>G)
c.32918-42T>G (n.32918-42T>G)
c.32777-42T>G (n.32777-42T>G)
c.58820-42T>G (n.58820-42T>G)
c.54218-42T>G (n.54218-42T>G)
c.54215-42T>G (n.54215-42T>G)
c.51257-42T>G (n.51257-42T>G)
c.32873-42T>G (n.32873-42T>G)
c.54368-42T>G (n.54368-42T>G)
c.54365-42T>G (n.54365-42T>G)
c.53798-42T>G (n.53798-42T>G)
c.51140-42T>G (n.51140-42T>G)
c.51059-42T>G (n.51059-42T>G)
c.32822-42T>G (n.32822-42T>G)
c.22676-42T>G (n.22676-42T>G)
 gnomAD v4
2g.178591936G>ACA2662130837TTN,TTN-AS1c.52222+42C>T (n.52222+42C>T)
c.33307+42C>T (n.33307+42C>T)
c.33106+42C>T (n.33106+42C>T)
c.32731+42C>T (n.32731+42C>T)
c.59926+42C>T (n.59926+42C>T)
c.55003+42C>T (n.55003+42C>T)
n.597-5660G>A
n.3364+622G>A
c.59023+42C>T (n.59023+42C>T)
c.32917+42C>T (n.32917+42C>T)
c.32776+42C>T (n.32776+42C>T)
c.58819+42C>T (n.58819+42C>T)
c.54217+42C>T (n.54217+42C>T)
c.54214+42C>T (n.54214+42C>T)
c.51256+42C>T (n.51256+42C>T)
c.32872+42C>T (n.32872+42C>T)
c.54367+42C>T (n.54367+42C>T)
c.54364+42C>T (n.54364+42C>T)
c.53797+42C>T (n.53797+42C>T)
c.51139+42C>T (n.51139+42C>T)
c.51058+42C>T (n.51058+42C>T)
c.32821+42C>T (n.32821+42C>T)
c.22675+42C>T (n.22675+42C>T)
 gnomAD v4
2g.178591938C>ACA1310540481TTN,TTN-AS1c.52222+40G>T (n.52222+40G>T)
c.33307+40G>T (n.33307+40G>T)
c.33106+40G>T (n.33106+40G>T)
c.32731+40G>T (n.32731+40G>T)
c.59926+40G>T (n.59926+40G>T)
c.55003+40G>T (n.55003+40G>T)
n.597-5658C>A
n.3364+624C>A
c.59023+40G>T (n.59023+40G>T)
c.32917+40G>T (n.32917+40G>T)
c.32776+40G>T (n.32776+40G>T)
c.58819+40G>T (n.58819+40G>T)
c.54217+40G>T (n.54217+40G>T)
c.54214+40G>T (n.54214+40G>T)
c.51256+40G>T (n.51256+40G>T)
c.32872+40G>T (n.32872+40G>T)
c.54367+40G>T (n.54367+40G>T)
c.54364+40G>T (n.54364+40G>T)
c.53797+40G>T (n.53797+40G>T)
c.51139+40G>T (n.51139+40G>T)
c.51058+40G>T (n.51058+40G>T)
c.32821+40G>T (n.32821+40G>T)
c.22675+40G>T (n.22675+40G>T)
 dbSNP gnomAD v4
2g.178591938C=CA1310540480TTN,TTN-AS1c.52222+40G= (n.52222+40G=)
c.33307+40G= (n.33307+40G=)
c.33106+40G= (n.33106+40G=)
c.32731+40G= (n.32731+40G=)
c.59926+40G= (n.59926+40G=)
c.55003+40G= (n.55003+40G=)
n.597-5658C=
n.3364+624C=
c.59023+40G= (n.59023+40G=)
c.32917+40G= (n.32917+40G=)
c.32776+40G= (n.32776+40G=)
c.58819+40G= (n.58819+40G=)
c.54217+40G= (n.54217+40G=)
c.54214+40G= (n.54214+40G=)
c.51256+40G= (n.51256+40G=)
c.32872+40G= (n.32872+40G=)
c.54367+40G= (n.54367+40G=)
c.54364+40G= (n.54364+40G=)
c.53797+40G= (n.53797+40G=)
c.51139+40G= (n.51139+40G=)
c.51058+40G= (n.51058+40G=)
c.32821+40G= (n.32821+40G=)
c.22675+40G= (n.22675+40G=)
2g.178591940_178591943delCA2662130838TTN,TTN-AS1c.52222+37_52222+40del (n.52222+37_52222+40del)
c.33307+37_33307+40del (n.33307+37_33307+40del)
c.33106+37_33106+40del (n.33106+37_33106+40del)
c.32731+37_32731+40del (n.32731+37_32731+40del)
c.59926+37_59926+40del (n.59926+37_59926+40del)
c.55003+37_55003+40del (n.55003+37_55003+40del)
n.597-5656_597-5653del
n.3364+626_3364+629del
c.59023+37_59023+40del (n.59023+37_59023+40del)
c.32917+37_32917+40del (n.32917+37_32917+40del)
c.32776+37_32776+40del (n.32776+37_32776+40del)
c.58819+37_58819+40del (n.58819+37_58819+40del)
c.54217+37_54217+40del (n.54217+37_54217+40del)
c.54214+37_54214+40del (n.54214+37_54214+40del)
c.51256+37_51256+40del (n.51256+37_51256+40del)
c.32872+37_32872+40del (n.32872+37_32872+40del)
c.54367+37_54367+40del (n.54367+37_54367+40del)
c.54364+37_54364+40del (n.54364+37_54364+40del)
c.53797+37_53797+40del (n.53797+37_53797+40del)
c.51139+37_51139+40del (n.51139+37_51139+40del)
c.51058+37_51058+40del (n.51058+37_51058+40del)
c.32821+37_32821+40del (n.32821+37_32821+40del)
c.22675+37_22675+40del (n.22675+37_22675+40del)
 gnomAD v4
2g.178591939A>CCA2662130839TTN,TTN-AS1c.52222+39T>G (n.52222+39T>G)
c.33307+39T>G (n.33307+39T>G)
c.33106+39T>G (n.33106+39T>G)
c.32731+39T>G (n.32731+39T>G)
c.59926+39T>G (n.59926+39T>G)
c.55003+39T>G (n.55003+39T>G)
n.597-5657A>C
n.3364+625A>C
c.59023+39T>G (n.59023+39T>G)
c.32917+39T>G (n.32917+39T>G)
c.32776+39T>G (n.32776+39T>G)
c.58819+39T>G (n.58819+39T>G)
c.54217+39T>G (n.54217+39T>G)
c.54214+39T>G (n.54214+39T>G)
c.51256+39T>G (n.51256+39T>G)
c.32872+39T>G (n.32872+39T>G)
c.54367+39T>G (n.54367+39T>G)
c.54364+39T>G (n.54364+39T>G)
c.53797+39T>G (n.53797+39T>G)
c.51139+39T>G (n.51139+39T>G)
c.51058+39T>G (n.51058+39T>G)
c.32821+39T>G (n.32821+39T>G)
c.22675+39T>G (n.22675+39T>G)
 gnomAD v4
2g.178591939A>TCA2662130840TTN,TTN-AS1c.52222+39T>A (n.52222+39T>A)
c.33307+39T>A (n.33307+39T>A)
c.33106+39T>A (n.33106+39T>A)
c.32731+39T>A (n.32731+39T>A)
c.59926+39T>A (n.59926+39T>A)
c.55003+39T>A (n.55003+39T>A)
n.597-5657A>T
n.3364+625A>T
c.59023+39T>A (n.59023+39T>A)
c.32917+39T>A (n.32917+39T>A)
c.32776+39T>A (n.32776+39T>A)
c.58819+39T>A (n.58819+39T>A)
c.54217+39T>A (n.54217+39T>A)
c.54214+39T>A (n.54214+39T>A)
c.51256+39T>A (n.51256+39T>A)
c.32872+39T>A (n.32872+39T>A)
c.54367+39T>A (n.54367+39T>A)
c.54364+39T>A (n.54364+39T>A)
c.53797+39T>A (n.53797+39T>A)
c.51139+39T>A (n.51139+39T>A)
c.51058+39T>A (n.51058+39T>A)
c.32821+39T>A (n.32821+39T>A)
c.22675+39T>A (n.22675+39T>A)
 gnomAD v4
2g.178591940G>CCA538435583TTN,TTN-AS1c.52222+38C>G (n.52222+38C>G)
c.33307+38C>G (n.33307+38C>G)
c.33106+38C>G (n.33106+38C>G)
c.32731+38C>G (n.32731+38C>G)
c.59926+38C>G (n.59926+38C>G)
c.55003+38C>G (n.55003+38C>G)
n.597-5656G>C
n.3364+626G>C
c.59023+38C>G (n.59023+38C>G)
c.32917+38C>G (n.32917+38C>G)
c.32776+38C>G (n.32776+38C>G)
c.58819+38C>G (n.58819+38C>G)
c.54217+38C>G (n.54217+38C>G)
c.54214+38C>G (n.54214+38C>G)
c.51256+38C>G (n.51256+38C>G)
c.32872+38C>G (n.32872+38C>G)
c.54367+38C>G (n.54367+38C>G)
c.54364+38C>G (n.54364+38C>G)
c.53797+38C>G (n.53797+38C>G)
c.51139+38C>G (n.51139+38C>G)
c.51058+38C>G (n.51058+38C>G)
c.32821+38C>G (n.32821+38C>G)
c.22675+38C>G (n.22675+38C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178591940G=CA1310540483TTN,TTN-AS1c.52222+38C= (n.52222+38C=)
c.33307+38C= (n.33307+38C=)
c.33106+38C= (n.33106+38C=)
c.32731+38C= (n.32731+38C=)
c.59926+38C= (n.59926+38C=)
c.55003+38C= (n.55003+38C=)
n.597-5656G=
n.3364+626G=
c.59023+38C= (n.59023+38C=)
c.32917+38C= (n.32917+38C=)
c.32776+38C= (n.32776+38C=)
c.58819+38C= (n.58819+38C=)
c.54217+38C= (n.54217+38C=)
c.54214+38C= (n.54214+38C=)
c.51256+38C= (n.51256+38C=)
c.32872+38C= (n.32872+38C=)
c.54367+38C= (n.54367+38C=)
c.54364+38C= (n.54364+38C=)
c.53797+38C= (n.53797+38C=)
c.51139+38C= (n.51139+38C=)
c.51058+38C= (n.51058+38C=)
c.32821+38C= (n.32821+38C=)
c.22675+38C= (n.22675+38C=)
2g.178591941T>ACA761290779TTN,TTN-AS1c.52222+37A>T (n.52222+37A>T)
c.33307+37A>T (n.33307+37A>T)
c.33106+37A>T (n.33106+37A>T)
c.32731+37A>T (n.32731+37A>T)
c.59926+37A>T (n.59926+37A>T)
c.55003+37A>T (n.55003+37A>T)
n.597-5655T>A
n.3364+627T>A
c.59023+37A>T (n.59023+37A>T)
c.32917+37A>T (n.32917+37A>T)
c.32776+37A>T (n.32776+37A>T)
c.58819+37A>T (n.58819+37A>T)
c.54217+37A>T (n.54217+37A>T)
c.54214+37A>T (n.54214+37A>T)
c.51256+37A>T (n.51256+37A>T)
c.32872+37A>T (n.32872+37A>T)
c.54367+37A>T (n.54367+37A>T)
c.54364+37A>T (n.54364+37A>T)
c.53797+37A>T (n.53797+37A>T)
c.51139+37A>T (n.51139+37A>T)
c.51058+37A>T (n.51058+37A>T)
c.32821+37A>T (n.32821+37A>T)
c.22675+37A>T (n.22675+37A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.178591941T>CCA2753332600TTN,TTN-AS1c.52222+37A>G (n.52222+37A>G)
c.33307+37A>G (n.33307+37A>G)
c.33106+37A>G (n.33106+37A>G)
c.32731+37A>G (n.32731+37A>G)
c.59926+37A>G (n.59926+37A>G)
c.55003+37A>G (n.55003+37A>G)
n.597-5655T>C
n.3364+627T>C
c.59023+37A>G (n.59023+37A>G)
c.32917+37A>G (n.32917+37A>G)
c.32776+37A>G (n.32776+37A>G)
c.58819+37A>G (n.58819+37A>G)
c.54217+37A>G (n.54217+37A>G)
c.54214+37A>G (n.54214+37A>G)
c.51256+37A>G (n.51256+37A>G)
c.32872+37A>G (n.32872+37A>G)
c.54367+37A>G (n.54367+37A>G)
c.54364+37A>G (n.54364+37A>G)
c.53797+37A>G (n.53797+37A>G)
c.51139+37A>G (n.51139+37A>G)
c.51058+37A>G (n.51058+37A>G)
c.32821+37A>G (n.32821+37A>G)
c.22675+37A>G (n.22675+37A>G)
2g.178591941T=CA1310540484TTN,TTN-AS1c.52222+37A= (n.52222+37A=)
c.33307+37A= (n.33307+37A=)
c.33106+37A= (n.33106+37A=)
c.32731+37A= (n.32731+37A=)
c.59926+37A= (n.59926+37A=)
c.55003+37A= (n.55003+37A=)
n.597-5655T=
n.3364+627T=
c.59023+37A= (n.59023+37A=)
c.32917+37A= (n.32917+37A=)
c.32776+37A= (n.32776+37A=)
c.58819+37A= (n.58819+37A=)
c.54217+37A= (n.54217+37A=)
c.54214+37A= (n.54214+37A=)
c.51256+37A= (n.51256+37A=)
c.32872+37A= (n.32872+37A=)
c.54367+37A= (n.54367+37A=)
c.54364+37A= (n.54364+37A=)
c.53797+37A= (n.53797+37A=)
c.51139+37A= (n.51139+37A=)
c.51058+37A= (n.51058+37A=)
c.32821+37A= (n.32821+37A=)
c.22675+37A= (n.22675+37A=)

Number of alleles fetched