Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530368_178530383delinsATTGGTTCAGGAGCTTCA1310514558TTN,TTN-AS1c.98528_98543delinsAAGCTCCTGAACCAAT (p.Lys32843=)
c.79613_79628delinsAAGCTCCTGAACCAAT (p.Lys26538=)
c.79412_79427delinsAAGCTCCTGAACCAAT (p.Lys26471=)
c.79037_79052delinsAAGCTCCTGAACCAAT (p.Lys26346=)
c.106232_106247delinsAAGCTCCTGAACCAAT (p.Lys35411=)
c.101309_101324delinsAAGCTCCTGAACCAAT (p.Lys33770=)
n.446+6732_446+6747delinsATTGGTTCAGGAGCTT
n.220-5364_220-5349delinsATTGGTTCAGGAGCTT
c.105329_105344delinsAAGCTCCTGAACCAAT (p.Lys35110=)
c.79223_79238delinsAAGCTCCTGAACCAAT (p.Lys26408=)
c.79082_79097delinsAAGCTCCTGAACCAAT (p.Lys26361=)
c.105125_105140delinsAAGCTCCTGAACCAAT (p.Lys35042=)
c.100523_100538delinsAAGCTCCTGAACCAAT (p.Lys33508=)
c.100520_100535delinsAAGCTCCTGAACCAAT (p.Lys33507=)
c.97562_97577delinsAAGCTCCTGAACCAAT (p.Lys32521=)
c.79178_79193delinsAAGCTCCTGAACCAAT (p.Lys26393=)
c.100673_100688delinsAAGCTCCTGAACCAAT (p.Lys33558=)
c.100670_100685delinsAAGCTCCTGAACCAAT (p.Lys33557=)
c.100103_100118delinsAAGCTCCTGAACCAAT (p.Lys33368=)
c.97445_97460delinsAAGCTCCTGAACCAAT (p.Lys32482=)
c.97364_97379delinsAAGCTCCTGAACCAAT (p.Lys32455=)
c.79127_79142delinsAAGCTCCTGAACCAAT (p.Lys26376=)
c.68981_68996delinsAAGCTCCTGAACCAAT (p.Lys22994=)
2g.178530378_178530392delCA538434977TTN,TTN-AS1c.98528_98542del (p.Lys32843_Pro32847del)
c.79613_79627del (p.Lys26538_Pro26542del)
c.79412_79426del (p.Lys26471_Pro26475del)
c.79037_79051del (p.Lys26346_Pro26350del)
c.106232_106246del (p.Lys35411_Pro35415del)
c.101309_101323del (p.Lys33770_Pro33774del)
n.446+6742_446+6756del
n.220-5354_220-5340del
c.105329_105343del (p.Lys35110_Pro35114del)
c.79223_79237del (p.Lys26408_Pro26412del)
c.79082_79096del (p.Lys26361_Pro26365del)
c.105125_105139del (p.Lys35042_Pro35046del)
c.100523_100537del (p.Lys33508_Pro33512del)
c.100520_100534del (p.Lys33507_Pro33511del)
c.97562_97576del (p.Lys32521_Pro32525del)
c.79178_79192del (p.Lys26393_Pro26397del)
c.100673_100687del (p.Lys33558_Pro33562del)
c.100670_100684del (p.Lys33557_Pro33561del)
c.100103_100117del (p.Lys33368_Pro33372del)
c.97445_97459del (p.Lys32482_Pro32486del)
c.97364_97378del (p.Lys32455_Pro32459del)
c.79127_79141del (p.Lys26376_Pro26380del)
c.68981_68995del (p.Lys22994_Pro22998del)
 dbSNP gnomAD v2 gnomAD v4
2g.178530385delCA2586970735TTN,TTN-AS1c.98529del (p.Ala32844LeufsTer10)
c.79614del (p.Ala26539LeufsTer10)
c.79413del (p.Ala26472LeufsTer10)
c.79038del (p.Ala26347LeufsTer10)
c.106233del (p.Ala35412LeufsTer10)
c.101310del (p.Ala33771LeufsTer10)
n.446+6749del
n.220-5347del
c.105330del (p.Ala35111LeufsTer10)
c.79224del (p.Ala26409LeufsTer10)
c.79083del (p.Ala26362LeufsTer10)
c.105126del (p.Ala35043LeufsTer10)
c.100524del (p.Ala33509LeufsTer10)
c.100521del (p.Ala33508LeufsTer10)
c.97563del (p.Ala32522LeufsTer10)
c.79179del (p.Ala26394LeufsTer10)
c.100674del (p.Ala33559LeufsTer10)
c.100671del (p.Ala33558LeufsTer10)
c.100104del (p.Ala33369LeufsTer10)
c.97446del (p.Ala32483LeufsTer10)
c.97365del (p.Ala32456LeufsTer10)
c.79128del (p.Ala26377LeufsTer10)
c.68982del (p.Ala22995LeufsTer10)
 gnomAD v4
2g.178530383T>ACA349406499TTN,TTN-AS1c.98528A>T (p.Lys32843Ile)
c.79613A>T (p.Lys26538Ile)
c.79412A>T (p.Lys26471Ile)
c.79037A>T (p.Lys26346Ile)
c.106232A>T (p.Lys35411Ile)
c.101309A>T (p.Lys33770Ile)
n.446+6747T>A
n.220-5349T>A
c.105329A>T (p.Lys35110Ile)
c.79223A>T (p.Lys26408Ile)
c.79082A>T (p.Lys26361Ile)
c.105125A>T (p.Lys35042Ile)
c.100523A>T (p.Lys33508Ile)
c.100520A>T (p.Lys33507Ile)
c.97562A>T (p.Lys32521Ile)
c.79178A>T (p.Lys26393Ile)
c.100673A>T (p.Lys33558Ile)
c.100670A>T (p.Lys33557Ile)
c.100103A>T (p.Lys33368Ile)
c.97445A>T (p.Lys32482Ile)
c.97364A>T (p.Lys32455Ile)
c.79127A>T (p.Lys26376Ile)
c.68981A>T (p.Lys22994Ile)
2g.178530383T>CCA349406503TTN,TTN-AS1c.98528A>G (p.Lys32843Arg)
c.79613A>G (p.Lys26538Arg)
c.79412A>G (p.Lys26471Arg)
c.79037A>G (p.Lys26346Arg)
c.106232A>G (p.Lys35411Arg)
c.101309A>G (p.Lys33770Arg)
n.446+6747T>C
n.220-5349T>C
c.105329A>G (p.Lys35110Arg)
c.79223A>G (p.Lys26408Arg)
c.79082A>G (p.Lys26361Arg)
c.105125A>G (p.Lys35042Arg)
c.100523A>G (p.Lys33508Arg)
c.100520A>G (p.Lys33507Arg)
c.97562A>G (p.Lys32521Arg)
c.79178A>G (p.Lys26393Arg)
c.100673A>G (p.Lys33558Arg)
c.100670A>G (p.Lys33557Arg)
c.100103A>G (p.Lys33368Arg)
c.97445A>G (p.Lys32482Arg)
c.97364A>G (p.Lys32455Arg)
c.79127A>G (p.Lys26376Arg)
c.68981A>G (p.Lys22994Arg)
2g.178530383T>GCA349406501TTN,TTN-AS1c.98528A>C (p.Lys32843Thr)
c.79613A>C (p.Lys26538Thr)
c.79412A>C (p.Lys26471Thr)
c.79037A>C (p.Lys26346Thr)
c.106232A>C (p.Lys35411Thr)
c.101309A>C (p.Lys33770Thr)
n.446+6747T>G
n.220-5349T>G
c.105329A>C (p.Lys35110Thr)
c.79223A>C (p.Lys26408Thr)
c.79082A>C (p.Lys26361Thr)
c.105125A>C (p.Lys35042Thr)
c.100523A>C (p.Lys33508Thr)
c.100520A>C (p.Lys33507Thr)
c.97562A>C (p.Lys32521Thr)
c.79178A>C (p.Lys26393Thr)
c.100673A>C (p.Lys33558Thr)
c.100670A>C (p.Lys33557Thr)
c.100103A>C (p.Lys33368Thr)
c.97445A>C (p.Lys32482Thr)
c.97364A>C (p.Lys32455Thr)
c.79127A>C (p.Lys26376Thr)
c.68981A>C (p.Lys22994Thr)
2g.178530384T>ACA349406506TTN,TTN-AS1c.98527A>T (p.Lys32843Ter)
c.79612A>T (p.Lys26538Ter)
c.79411A>T (p.Lys26471Ter)
c.79036A>T (p.Lys26346Ter)
c.106231A>T (p.Lys35411Ter)
c.101308A>T (p.Lys33770Ter)
n.446+6748T>A
n.220-5348T>A
c.105328A>T (p.Lys35110Ter)
c.79222A>T (p.Lys26408Ter)
c.79081A>T (p.Lys26361Ter)
c.105124A>T (p.Lys35042Ter)
c.100522A>T (p.Lys33508Ter)
c.100519A>T (p.Lys33507Ter)
c.97561A>T (p.Lys32521Ter)
c.79177A>T (p.Lys26393Ter)
c.100672A>T (p.Lys33558Ter)
c.100669A>T (p.Lys33557Ter)
c.100102A>T (p.Lys33368Ter)
c.97444A>T (p.Lys32482Ter)
c.97363A>T (p.Lys32455Ter)
c.79126A>T (p.Lys26376Ter)
c.68980A>T (p.Lys22994Ter)
2g.178530384T>CCA349406508TTN,TTN-AS1c.98527A>G (p.Lys32843Glu)
c.79612A>G (p.Lys26538Glu)
c.79411A>G (p.Lys26471Glu)
c.79036A>G (p.Lys26346Glu)
c.106231A>G (p.Lys35411Glu)
c.101308A>G (p.Lys33770Glu)
n.446+6748T>C
n.220-5348T>C
c.105328A>G (p.Lys35110Glu)
c.79222A>G (p.Lys26408Glu)
c.79081A>G (p.Lys26361Glu)
c.105124A>G (p.Lys35042Glu)
c.100522A>G (p.Lys33508Glu)
c.100519A>G (p.Lys33507Glu)
c.97561A>G (p.Lys32521Glu)
c.79177A>G (p.Lys26393Glu)
c.100672A>G (p.Lys33558Glu)
c.100669A>G (p.Lys33557Glu)
c.100102A>G (p.Lys33368Glu)
c.97444A>G (p.Lys32482Glu)
c.97363A>G (p.Lys32455Glu)
c.79126A>G (p.Lys26376Glu)
c.68980A>G (p.Lys22994Glu)
2g.178530384T>GCA349406511TTN,TTN-AS1c.98527A>C (p.Lys32843Gln)
c.79612A>C (p.Lys26538Gln)
c.79411A>C (p.Lys26471Gln)
c.79036A>C (p.Lys26346Gln)
c.106231A>C (p.Lys35411Gln)
c.101308A>C (p.Lys33770Gln)
n.446+6748T>G
n.220-5348T>G
c.105328A>C (p.Lys35110Gln)
c.79222A>C (p.Lys26408Gln)
c.79081A>C (p.Lys26361Gln)
c.105124A>C (p.Lys35042Gln)
c.100522A>C (p.Lys33508Gln)
c.100519A>C (p.Lys33507Gln)
c.97561A>C (p.Lys32521Gln)
c.79177A>C (p.Lys26393Gln)
c.100672A>C (p.Lys33558Gln)
c.100669A>C (p.Lys33557Gln)
c.100102A>C (p.Lys33368Gln)
c.97444A>C (p.Lys32482Gln)
c.97363A>C (p.Lys32455Gln)
c.79126A>C (p.Lys26376Gln)
c.68980A>C (p.Lys22994Gln)
2g.178530385T>ACA430235259TTN,TTN-AS1c.98526A>T (p.Pro32842=)
c.79611A>T (p.Pro26537=)
c.79410A>T (p.Pro26470=)
c.79035A>T (p.Pro26345=)
c.106230A>T (p.Pro35410=)
c.101307A>T (p.Pro33769=)
n.446+6749T>A
n.220-5347T>A
c.105327A>T (p.Pro35109=)
c.79221A>T (p.Pro26407=)
c.79080A>T (p.Pro26360=)
c.105123A>T (p.Pro35041=)
c.100521A>T (p.Pro33507=)
c.100518A>T (p.Pro33506=)
c.97560A>T (p.Pro32520=)
c.79176A>T (p.Pro26392=)
c.100671A>T (p.Pro33557=)
c.100668A>T (p.Pro33556=)
c.100101A>T (p.Pro33367=)
c.97443A>T (p.Pro32481=)
c.97362A>T (p.Pro32454=)
c.79125A>T (p.Pro26375=)
c.68979A>T (p.Pro22993=)
2g.178530385T>CCA430235260TTN,TTN-AS1c.98526A>G (p.Pro32842=)
c.79611A>G (p.Pro26537=)
c.79410A>G (p.Pro26470=)
c.79035A>G (p.Pro26345=)
c.106230A>G (p.Pro35410=)
c.101307A>G (p.Pro33769=)
n.446+6749T>C
n.220-5347T>C
c.105327A>G (p.Pro35109=)
c.79221A>G (p.Pro26407=)
c.79080A>G (p.Pro26360=)
c.105123A>G (p.Pro35041=)
c.100521A>G (p.Pro33507=)
c.100518A>G (p.Pro33506=)
c.97560A>G (p.Pro32520=)
c.79176A>G (p.Pro26392=)
c.100671A>G (p.Pro33557=)
c.100668A>G (p.Pro33556=)
c.100101A>G (p.Pro33367=)
c.97443A>G (p.Pro32481=)
c.97362A>G (p.Pro32454=)
c.79125A>G (p.Pro26375=)
c.68979A>G (p.Pro22993=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530385T>GCA430235261TTN,TTN-AS1c.98526A>C (p.Pro32842=)
c.79611A>C (p.Pro26537=)
c.79410A>C (p.Pro26470=)
c.79035A>C (p.Pro26345=)
c.106230A>C (p.Pro35410=)
c.101307A>C (p.Pro33769=)
n.446+6749T>G
n.220-5347T>G
c.105327A>C (p.Pro35109=)
c.79221A>C (p.Pro26407=)
c.79080A>C (p.Pro26360=)
c.105123A>C (p.Pro35041=)
c.100521A>C (p.Pro33507=)
c.100518A>C (p.Pro33506=)
c.97560A>C (p.Pro32520=)
c.79176A>C (p.Pro26392=)
c.100671A>C (p.Pro33557=)
c.100668A>C (p.Pro33556=)
c.100101A>C (p.Pro33367=)
c.97443A>C (p.Pro32481=)
c.97362A>C (p.Pro32454=)
c.79125A>C (p.Pro26375=)
c.68979A>C (p.Pro22993=)
 ClinVar
2g.178530385T=CA1310514573TTN,TTN-AS1c.98526A= (p.Pro32842=)
c.79611A= (p.Pro26537=)
c.79410A= (p.Pro26470=)
c.79035A= (p.Pro26345=)
c.106230A= (p.Pro35410=)
c.101307A= (p.Pro33769=)
n.446+6749T=
n.220-5347T=
c.105327A= (p.Pro35109=)
c.79221A= (p.Pro26407=)
c.79080A= (p.Pro26360=)
c.105123A= (p.Pro35041=)
c.100521A= (p.Pro33507=)
c.100518A= (p.Pro33506=)
c.97560A= (p.Pro32520=)
c.79176A= (p.Pro26392=)
c.100671A= (p.Pro33557=)
c.100668A= (p.Pro33556=)
c.100101A= (p.Pro33367=)
c.97443A= (p.Pro32481=)
c.97362A= (p.Pro32454=)
c.79125A= (p.Pro26375=)
c.68979A= (p.Pro22993=)
2g.178530386G>ACA349406513TTN,TTN-AS1c.98525C>T (p.Pro32842Leu)
c.79610C>T (p.Pro26537Leu)
c.79409C>T (p.Pro26470Leu)
c.79034C>T (p.Pro26345Leu)
c.106229C>T (p.Pro35410Leu)
c.101306C>T (p.Pro33769Leu)
n.446+6750G>A
n.220-5346G>A
c.105326C>T (p.Pro35109Leu)
c.79220C>T (p.Pro26407Leu)
c.79079C>T (p.Pro26360Leu)
c.105122C>T (p.Pro35041Leu)
c.100520C>T (p.Pro33507Leu)
c.100517C>T (p.Pro33506Leu)
c.97559C>T (p.Pro32520Leu)
c.79175C>T (p.Pro26392Leu)
c.100670C>T (p.Pro33557Leu)
c.100667C>T (p.Pro33556Leu)
c.100100C>T (p.Pro33367Leu)
c.97442C>T (p.Pro32481Leu)
c.97361C>T (p.Pro32454Leu)
c.79124C>T (p.Pro26375Leu)
c.68978C>T (p.Pro22993Leu)
2g.178530386G>CCA349406515TTN,TTN-AS1c.98525C>G (p.Pro32842Arg)
c.79610C>G (p.Pro26537Arg)
c.79409C>G (p.Pro26470Arg)
c.79034C>G (p.Pro26345Arg)
c.106229C>G (p.Pro35410Arg)
c.101306C>G (p.Pro33769Arg)
n.446+6750G>C
n.220-5346G>C
c.105326C>G (p.Pro35109Arg)
c.79220C>G (p.Pro26407Arg)
c.79079C>G (p.Pro26360Arg)
c.105122C>G (p.Pro35041Arg)
c.100520C>G (p.Pro33507Arg)
c.100517C>G (p.Pro33506Arg)
c.97559C>G (p.Pro32520Arg)
c.79175C>G (p.Pro26392Arg)
c.100670C>G (p.Pro33557Arg)
c.100667C>G (p.Pro33556Arg)
c.100100C>G (p.Pro33367Arg)
c.97442C>G (p.Pro32481Arg)
c.97361C>G (p.Pro32454Arg)
c.79124C>G (p.Pro26375Arg)
c.68978C>G (p.Pro22993Arg)
 ClinVar dbSNP
2g.178530386G=CA1310514575TTN,TTN-AS1c.98525C= (p.Pro32842=)
c.79610C= (p.Pro26537=)
c.79409C= (p.Pro26470=)
c.79034C= (p.Pro26345=)
c.106229C= (p.Pro35410=)
c.101306C= (p.Pro33769=)
n.446+6750G=
n.220-5346G=
c.105326C= (p.Pro35109=)
c.79220C= (p.Pro26407=)
c.79079C= (p.Pro26360=)
c.105122C= (p.Pro35041=)
c.100520C= (p.Pro33507=)
c.100517C= (p.Pro33506=)
c.97559C= (p.Pro32520=)
c.79175C= (p.Pro26392=)
c.100670C= (p.Pro33557=)
c.100667C= (p.Pro33556=)
c.100100C= (p.Pro33367=)
c.97442C= (p.Pro32481=)
c.97361C= (p.Pro32454=)
c.79124C= (p.Pro26375=)
c.68978C= (p.Pro22993=)
2g.178530386G>TCA349406517TTN,TTN-AS1c.98525C>A (p.Pro32842Gln)
c.79610C>A (p.Pro26537Gln)
c.79409C>A (p.Pro26470Gln)
c.79034C>A (p.Pro26345Gln)
c.106229C>A (p.Pro35410Gln)
c.101306C>A (p.Pro33769Gln)
n.446+6750G>T
n.220-5346G>T
c.105326C>A (p.Pro35109Gln)
c.79220C>A (p.Pro26407Gln)
c.79079C>A (p.Pro26360Gln)
c.105122C>A (p.Pro35041Gln)
c.100520C>A (p.Pro33507Gln)
c.100517C>A (p.Pro33506Gln)
c.97559C>A (p.Pro32520Gln)
c.79175C>A (p.Pro26392Gln)
c.100670C>A (p.Pro33557Gln)
c.100667C>A (p.Pro33556Gln)
c.100100C>A (p.Pro33367Gln)
c.97442C>A (p.Pro32481Gln)
c.97361C>A (p.Pro32454Gln)
c.79124C>A (p.Pro26375Gln)
c.68978C>A (p.Pro22993Gln)
2g.178530387G>ACA349406519TTN,TTN-AS1c.98524C>T (p.Pro32842Ser)
c.79609C>T (p.Pro26537Ser)
c.79408C>T (p.Pro26470Ser)
c.79033C>T (p.Pro26345Ser)
c.106228C>T (p.Pro35410Ser)
c.101305C>T (p.Pro33769Ser)
n.446+6751G>A
n.220-5345G>A
c.105325C>T (p.Pro35109Ser)
c.79219C>T (p.Pro26407Ser)
c.79078C>T (p.Pro26360Ser)
c.105121C>T (p.Pro35041Ser)
c.100519C>T (p.Pro33507Ser)
c.100516C>T (p.Pro33506Ser)
c.97558C>T (p.Pro32520Ser)
c.79174C>T (p.Pro26392Ser)
c.100669C>T (p.Pro33557Ser)
c.100666C>T (p.Pro33556Ser)
c.100099C>T (p.Pro33367Ser)
c.97441C>T (p.Pro32481Ser)
c.97360C>T (p.Pro32454Ser)
c.79123C>T (p.Pro26375Ser)
c.68977C>T (p.Pro22993Ser)
 gnomAD v4
2g.178530387G>CCA349406520TTN,TTN-AS1c.98524C>G (p.Pro32842Ala)
c.79609C>G (p.Pro26537Ala)
c.79408C>G (p.Pro26470Ala)
c.79033C>G (p.Pro26345Ala)
c.106228C>G (p.Pro35410Ala)
c.101305C>G (p.Pro33769Ala)
n.446+6751G>C
n.220-5345G>C
c.105325C>G (p.Pro35109Ala)
c.79219C>G (p.Pro26407Ala)
c.79078C>G (p.Pro26360Ala)
c.105121C>G (p.Pro35041Ala)
c.100519C>G (p.Pro33507Ala)
c.100516C>G (p.Pro33506Ala)
c.97558C>G (p.Pro32520Ala)
c.79174C>G (p.Pro26392Ala)
c.100669C>G (p.Pro33557Ala)
c.100666C>G (p.Pro33556Ala)
c.100099C>G (p.Pro33367Ala)
c.97441C>G (p.Pro32481Ala)
c.97360C>G (p.Pro32454Ala)
c.79123C>G (p.Pro26375Ala)
c.68977C>G (p.Pro22993Ala)
2g.178530387G>TCA349406522TTN,TTN-AS1c.98524C>A (p.Pro32842Thr)
c.79609C>A (p.Pro26537Thr)
c.79408C>A (p.Pro26470Thr)
c.79033C>A (p.Pro26345Thr)
c.106228C>A (p.Pro35410Thr)
c.101305C>A (p.Pro33769Thr)
n.446+6751G>T
n.220-5345G>T
c.105325C>A (p.Pro35109Thr)
c.79219C>A (p.Pro26407Thr)
c.79078C>A (p.Pro26360Thr)
c.105121C>A (p.Pro35041Thr)
c.100519C>A (p.Pro33507Thr)
c.100516C>A (p.Pro33506Thr)
c.97558C>A (p.Pro32520Thr)
c.79174C>A (p.Pro26392Thr)
c.100669C>A (p.Pro33557Thr)
c.100666C>A (p.Pro33556Thr)
c.100099C>A (p.Pro33367Thr)
c.97441C>A (p.Pro32481Thr)
c.97360C>A (p.Pro32454Thr)
c.79123C>A (p.Pro26375Thr)
c.68977C>A (p.Pro22993Thr)
2g.178530388T>ACA349406524TTN,TTN-AS1c.98523A>T (p.Glu32841Asp)
c.79608A>T (p.Glu26536Asp)
c.79407A>T (p.Glu26469Asp)
c.79032A>T (p.Glu26344Asp)
c.106227A>T (p.Glu35409Asp)
c.101304A>T (p.Glu33768Asp)
n.446+6752T>A
n.220-5344T>A
c.105324A>T (p.Glu35108Asp)
c.79218A>T (p.Glu26406Asp)
c.79077A>T (p.Glu26359Asp)
c.105120A>T (p.Glu35040Asp)
c.100518A>T (p.Glu33506Asp)
c.100515A>T (p.Glu33505Asp)
c.97557A>T (p.Glu32519Asp)
c.79173A>T (p.Glu26391Asp)
c.100668A>T (p.Glu33556Asp)
c.100665A>T (p.Glu33555Asp)
c.100098A>T (p.Glu33366Asp)
c.97440A>T (p.Glu32480Asp)
c.97359A>T (p.Glu32453Asp)
c.79122A>T (p.Glu26374Asp)
c.68976A>T (p.Glu22992Asp)
2g.178530388T>CCA430235263TTN,TTN-AS1c.98523A>G (p.Glu32841=)
c.79608A>G (p.Glu26536=)
c.79407A>G (p.Glu26469=)
c.79032A>G (p.Glu26344=)
c.106227A>G (p.Glu35409=)
c.101304A>G (p.Glu33768=)
n.446+6752T>C
n.220-5344T>C
c.105324A>G (p.Glu35108=)
c.79218A>G (p.Glu26406=)
c.79077A>G (p.Glu26359=)
c.105120A>G (p.Glu35040=)
c.100518A>G (p.Glu33506=)
c.100515A>G (p.Glu33505=)
c.97557A>G (p.Glu32519=)
c.79173A>G (p.Glu26391=)
c.100668A>G (p.Glu33556=)
c.100665A>G (p.Glu33555=)
c.100098A>G (p.Glu33366=)
c.97440A>G (p.Glu32480=)
c.97359A>G (p.Glu32453=)
c.79122A>G (p.Glu26374=)
c.68976A>G (p.Glu22992=)
 COSMIC COSMIC COSMIC COSMIC
2g.178530388T>GCA349406526TTN,TTN-AS1c.98523A>C (p.Glu32841Asp)
c.79608A>C (p.Glu26536Asp)
c.79407A>C (p.Glu26469Asp)
c.79032A>C (p.Glu26344Asp)
c.106227A>C (p.Glu35409Asp)
c.101304A>C (p.Glu33768Asp)
n.446+6752T>G
n.220-5344T>G
c.105324A>C (p.Glu35108Asp)
c.79218A>C (p.Glu26406Asp)
c.79077A>C (p.Glu26359Asp)
c.105120A>C (p.Glu35040Asp)
c.100518A>C (p.Glu33506Asp)
c.100515A>C (p.Glu33505Asp)
c.97557A>C (p.Glu32519Asp)
c.79173A>C (p.Glu26391Asp)
c.100668A>C (p.Glu33556Asp)
c.100665A>C (p.Glu33555Asp)
c.100098A>C (p.Glu33366Asp)
c.97440A>C (p.Glu32480Asp)
c.97359A>C (p.Glu32453Asp)
c.79122A>C (p.Glu26374Asp)
c.68976A>C (p.Glu22992Asp)
2g.178530389T>ACA349406533TTN,TTN-AS1c.98522A>T (p.Glu32841Val)
c.79607A>T (p.Glu26536Val)
c.79406A>T (p.Glu26469Val)
c.79031A>T (p.Glu26344Val)
c.106226A>T (p.Glu35409Val)
c.101303A>T (p.Glu33768Val)
n.446+6753T>A
n.220-5343T>A
c.105323A>T (p.Glu35108Val)
c.79217A>T (p.Glu26406Val)
c.79076A>T (p.Glu26359Val)
c.105119A>T (p.Glu35040Val)
c.100517A>T (p.Glu33506Val)
c.100514A>T (p.Glu33505Val)
c.97556A>T (p.Glu32519Val)
c.79172A>T (p.Glu26391Val)
c.100667A>T (p.Glu33556Val)
c.100664A>T (p.Glu33555Val)
c.100097A>T (p.Glu33366Val)
c.97439A>T (p.Glu32480Val)
c.97358A>T (p.Glu32453Val)
c.79121A>T (p.Glu26374Val)
c.68975A>T (p.Glu22992Val)
2g.178530389T>CCA349406531TTN,TTN-AS1c.98522A>G (p.Glu32841Gly)
c.79607A>G (p.Glu26536Gly)
c.79406A>G (p.Glu26469Gly)
c.79031A>G (p.Glu26344Gly)
c.106226A>G (p.Glu35409Gly)
c.101303A>G (p.Glu33768Gly)
n.446+6753T>C
n.220-5343T>C
c.105323A>G (p.Glu35108Gly)
c.79217A>G (p.Glu26406Gly)
c.79076A>G (p.Glu26359Gly)
c.105119A>G (p.Glu35040Gly)
c.100517A>G (p.Glu33506Gly)
c.100514A>G (p.Glu33505Gly)
c.97556A>G (p.Glu32519Gly)
c.79172A>G (p.Glu26391Gly)
c.100667A>G (p.Glu33556Gly)
c.100664A>G (p.Glu33555Gly)
c.100097A>G (p.Glu33366Gly)
c.97439A>G (p.Glu32480Gly)
c.97358A>G (p.Glu32453Gly)
c.79121A>G (p.Glu26374Gly)
c.68975A>G (p.Glu22992Gly)
2g.178530389T>GCA349406529TTN,TTN-AS1c.98522A>C (p.Glu32841Ala)
c.79607A>C (p.Glu26536Ala)
c.79406A>C (p.Glu26469Ala)
c.79031A>C (p.Glu26344Ala)
c.106226A>C (p.Glu35409Ala)
c.101303A>C (p.Glu33768Ala)
n.446+6753T>G
n.220-5343T>G
c.105323A>C (p.Glu35108Ala)
c.79217A>C (p.Glu26406Ala)
c.79076A>C (p.Glu26359Ala)
c.105119A>C (p.Glu35040Ala)
c.100517A>C (p.Glu33506Ala)
c.100514A>C (p.Glu33505Ala)
c.97556A>C (p.Glu32519Ala)
c.79172A>C (p.Glu26391Ala)
c.100667A>C (p.Glu33556Ala)
c.100664A>C (p.Glu33555Ala)
c.100097A>C (p.Glu33366Ala)
c.97439A>C (p.Glu32480Ala)
c.97358A>C (p.Glu32453Ala)
c.79121A>C (p.Glu26374Ala)
c.68975A>C (p.Glu22992Ala)
2g.178530390C>ACA349406535TTN,TTN-AS1c.98521G>T (p.Glu32841Ter)
c.79606G>T (p.Glu26536Ter)
c.79405G>T (p.Glu26469Ter)
c.79030G>T (p.Glu26344Ter)
c.106225G>T (p.Glu35409Ter)
c.101302G>T (p.Glu33768Ter)
n.446+6754C>A
n.220-5342C>A
c.105322G>T (p.Glu35108Ter)
c.79216G>T (p.Glu26406Ter)
c.79075G>T (p.Glu26359Ter)
c.105118G>T (p.Glu35040Ter)
c.100516G>T (p.Glu33506Ter)
c.100513G>T (p.Glu33505Ter)
c.97555G>T (p.Glu32519Ter)
c.79171G>T (p.Glu26391Ter)
c.100666G>T (p.Glu33556Ter)
c.100663G>T (p.Glu33555Ter)
c.100096G>T (p.Glu33366Ter)
c.97438G>T (p.Glu32480Ter)
c.97357G>T (p.Glu32453Ter)
c.79120G>T (p.Glu26374Ter)
c.68974G>T (p.Glu22992Ter)
2g.178530390C=CA1310514577TTN,TTN-AS1c.98521G= (p.Glu32841=)
c.79606G= (p.Glu26536=)
c.79405G= (p.Glu26469=)
c.79030G= (p.Glu26344=)
c.106225G= (p.Glu35409=)
c.101302G= (p.Glu33768=)
n.446+6754C=
n.220-5342C=
c.105322G= (p.Glu35108=)
c.79216G= (p.Glu26406=)
c.79075G= (p.Glu26359=)
c.105118G= (p.Glu35040=)
c.100516G= (p.Glu33506=)
c.100513G= (p.Glu33505=)
c.97555G= (p.Glu32519=)
c.79171G= (p.Glu26391=)
c.100666G= (p.Glu33556=)
c.100663G= (p.Glu33555=)
c.100096G= (p.Glu33366=)
c.97438G= (p.Glu32480=)
c.97357G= (p.Glu32453=)
c.79120G= (p.Glu26374=)
c.68974G= (p.Glu22992=)
2g.178530390C>GCA349406540TTN,TTN-AS1c.98521G>C (p.Glu32841Gln)
c.79606G>C (p.Glu26536Gln)
c.79405G>C (p.Glu26469Gln)
c.79030G>C (p.Glu26344Gln)
c.106225G>C (p.Glu35409Gln)
c.101302G>C (p.Glu33768Gln)
n.446+6754C>G
n.220-5342C>G
c.105322G>C (p.Glu35108Gln)
c.79216G>C (p.Glu26406Gln)
c.79075G>C (p.Glu26359Gln)
c.105118G>C (p.Glu35040Gln)
c.100516G>C (p.Glu33506Gln)
c.100513G>C (p.Glu33505Gln)
c.97555G>C (p.Glu32519Gln)
c.79171G>C (p.Glu26391Gln)
c.100666G>C (p.Glu33556Gln)
c.100663G>C (p.Glu33555Gln)
c.100096G>C (p.Glu33366Gln)
c.97438G>C (p.Glu32480Gln)
c.97357G>C (p.Glu32453Gln)
c.79120G>C (p.Glu26374Gln)
c.68974G>C (p.Glu22992Gln)
2g.178530390C>TCA349406537TTN,TTN-AS1c.98521G>A (p.Glu32841Lys)
c.79606G>A (p.Glu26536Lys)
c.79405G>A (p.Glu26469Lys)
c.79030G>A (p.Glu26344Lys)
c.106225G>A (p.Glu35409Lys)
c.101302G>A (p.Glu33768Lys)
n.446+6754C>T
n.220-5342C>T
c.105322G>A (p.Glu35108Lys)
c.79216G>A (p.Glu26406Lys)
c.79075G>A (p.Glu26359Lys)
c.105118G>A (p.Glu35040Lys)
c.100516G>A (p.Glu33506Lys)
c.100513G>A (p.Glu33505Lys)
c.97555G>A (p.Glu32519Lys)
c.79171G>A (p.Glu26391Lys)
c.100666G>A (p.Glu33556Lys)
c.100663G>A (p.Glu33555Lys)
c.100096G>A (p.Glu33366Lys)
c.97438G>A (p.Glu32480Lys)
c.97357G>A (p.Glu32453Lys)
c.79120G>A (p.Glu26374Lys)
c.68974G>A (p.Glu22992Lys)
 dbSNP
2g.178530391A>CCA430235267TTN,TTN-AS1c.98520T>G (p.Thr32840=)
c.79605T>G (p.Thr26535=)
c.79404T>G (p.Thr26468=)
c.79029T>G (p.Thr26343=)
c.106224T>G (p.Thr35408=)
c.101301T>G (p.Thr33767=)
n.446+6755A>C
n.220-5341A>C
c.105321T>G (p.Thr35107=)
c.79215T>G (p.Thr26405=)
c.79074T>G (p.Thr26358=)
c.105117T>G (p.Thr35039=)
c.100515T>G (p.Thr33505=)
c.100512T>G (p.Thr33504=)
c.97554T>G (p.Thr32518=)
c.79170T>G (p.Thr26390=)
c.100665T>G (p.Thr33555=)
c.100662T>G (p.Thr33554=)
c.100095T>G (p.Thr33365=)
c.97437T>G (p.Thr32479=)
c.97356T>G (p.Thr32452=)
c.79119T>G (p.Thr26373=)
c.68973T>G (p.Thr22991=)
2g.178530391A>GCA430235271TTN,TTN-AS1c.98520T>C (p.Thr32840=)
c.79605T>C (p.Thr26535=)
c.79404T>C (p.Thr26468=)
c.79029T>C (p.Thr26343=)
c.106224T>C (p.Thr35408=)
c.101301T>C (p.Thr33767=)
n.446+6755A>G
n.220-5341A>G
c.105321T>C (p.Thr35107=)
c.79215T>C (p.Thr26405=)
c.79074T>C (p.Thr26358=)
c.105117T>C (p.Thr35039=)
c.100515T>C (p.Thr33505=)
c.100512T>C (p.Thr33504=)
c.97554T>C (p.Thr32518=)
c.79170T>C (p.Thr26390=)
c.100665T>C (p.Thr33555=)
c.100662T>C (p.Thr33554=)
c.100095T>C (p.Thr33365=)
c.97437T>C (p.Thr32479=)
c.97356T>C (p.Thr32452=)
c.79119T>C (p.Thr26373=)
c.68973T>C (p.Thr22991=)
2g.178530391A>TCA430235269TTN,TTN-AS1c.98520T>A (p.Thr32840=)
c.79605T>A (p.Thr26535=)
c.79404T>A (p.Thr26468=)
c.79029T>A (p.Thr26343=)
c.106224T>A (p.Thr35408=)
c.101301T>A (p.Thr33767=)
n.446+6755A>T
n.220-5341A>T
c.105321T>A (p.Thr35107=)
c.79215T>A (p.Thr26405=)
c.79074T>A (p.Thr26358=)
c.105117T>A (p.Thr35039=)
c.100515T>A (p.Thr33505=)
c.100512T>A (p.Thr33504=)
c.97554T>A (p.Thr32518=)
c.79170T>A (p.Thr26390=)
c.100665T>A (p.Thr33555=)
c.100662T>A (p.Thr33554=)
c.100095T>A (p.Thr33365=)
c.97437T>A (p.Thr32479=)
c.97356T>A (p.Thr32452=)
c.79119T>A (p.Thr26373=)
c.68973T>A (p.Thr22991=)
2g.178530392G>ACA349406542TTN,TTN-AS1c.98519C>T (p.Thr32840Ile)
c.79604C>T (p.Thr26535Ile)
c.79403C>T (p.Thr26468Ile)
c.79028C>T (p.Thr26343Ile)
c.106223C>T (p.Thr35408Ile)
c.101300C>T (p.Thr33767Ile)
n.446+6756G>A
n.220-5340G>A
c.105320C>T (p.Thr35107Ile)
c.79214C>T (p.Thr26405Ile)
c.79073C>T (p.Thr26358Ile)
c.105116C>T (p.Thr35039Ile)
c.100514C>T (p.Thr33505Ile)
c.100511C>T (p.Thr33504Ile)
c.97553C>T (p.Thr32518Ile)
c.79169C>T (p.Thr26390Ile)
c.100664C>T (p.Thr33555Ile)
c.100661C>T (p.Thr33554Ile)
c.100094C>T (p.Thr33365Ile)
c.97436C>T (p.Thr32479Ile)
c.97355C>T (p.Thr32452Ile)
c.79118C>T (p.Thr26373Ile)
c.68972C>T (p.Thr22991Ile)
 gnomAD v4
2g.178530392G>CCA349406545TTN,TTN-AS1c.98519C>G (p.Thr32840Ser)
c.79604C>G (p.Thr26535Ser)
c.79403C>G (p.Thr26468Ser)
c.79028C>G (p.Thr26343Ser)
c.106223C>G (p.Thr35408Ser)
c.101300C>G (p.Thr33767Ser)
n.446+6756G>C
n.220-5340G>C
c.105320C>G (p.Thr35107Ser)
c.79214C>G (p.Thr26405Ser)
c.79073C>G (p.Thr26358Ser)
c.105116C>G (p.Thr35039Ser)
c.100514C>G (p.Thr33505Ser)
c.100511C>G (p.Thr33504Ser)
c.97553C>G (p.Thr32518Ser)
c.79169C>G (p.Thr26390Ser)
c.100664C>G (p.Thr33555Ser)
c.100661C>G (p.Thr33554Ser)
c.100094C>G (p.Thr33365Ser)
c.97436C>G (p.Thr32479Ser)
c.97355C>G (p.Thr32452Ser)
c.79118C>G (p.Thr26373Ser)
c.68972C>G (p.Thr22991Ser)
2g.178530392G=CA1310514580TTN,TTN-AS1c.98519C= (p.Thr32840=)
c.79604C= (p.Thr26535=)
c.79403C= (p.Thr26468=)
c.79028C= (p.Thr26343=)
c.106223C= (p.Thr35408=)
c.101300C= (p.Thr33767=)
n.446+6756G=
n.220-5340G=
c.105320C= (p.Thr35107=)
c.79214C= (p.Thr26405=)
c.79073C= (p.Thr26358=)
c.105116C= (p.Thr35039=)
c.100514C= (p.Thr33505=)
c.100511C= (p.Thr33504=)
c.97553C= (p.Thr32518=)
c.79169C= (p.Thr26390=)
c.100664C= (p.Thr33555=)
c.100661C= (p.Thr33554=)
c.100094C= (p.Thr33365=)
c.97436C= (p.Thr32479=)
c.97355C= (p.Thr32452=)
c.79118C= (p.Thr26373=)
c.68972C= (p.Thr22991=)
2g.178530392G>TCA349406544TTN,TTN-AS1c.98519C>A (p.Thr32840Asn)
c.79604C>A (p.Thr26535Asn)
c.79403C>A (p.Thr26468Asn)
c.79028C>A (p.Thr26343Asn)
c.106223C>A (p.Thr35408Asn)
c.101300C>A (p.Thr33767Asn)
n.446+6756G>T
n.220-5340G>T
c.105320C>A (p.Thr35107Asn)
c.79214C>A (p.Thr26405Asn)
c.79073C>A (p.Thr26358Asn)
c.105116C>A (p.Thr35039Asn)
c.100514C>A (p.Thr33505Asn)
c.100511C>A (p.Thr33504Asn)
c.97553C>A (p.Thr32518Asn)
c.79169C>A (p.Thr26390Asn)
c.100664C>A (p.Thr33555Asn)
c.100661C>A (p.Thr33554Asn)
c.100094C>A (p.Thr33365Asn)
c.97436C>A (p.Thr32479Asn)
c.97355C>A (p.Thr32452Asn)
c.79118C>A (p.Thr26373Asn)
c.68972C>A (p.Thr22991Asn)
 ClinVar dbSNP
2g.178530393T>ACA349406546TTN,TTN-AS1c.98518A>T (p.Thr32840Ser)
c.79603A>T (p.Thr26535Ser)
c.79402A>T (p.Thr26468Ser)
c.79027A>T (p.Thr26343Ser)
c.106222A>T (p.Thr35408Ser)
c.101299A>T (p.Thr33767Ser)
n.446+6757T>A
n.220-5339T>A
c.105319A>T (p.Thr35107Ser)
c.79213A>T (p.Thr26405Ser)
c.79072A>T (p.Thr26358Ser)
c.105115A>T (p.Thr35039Ser)
c.100513A>T (p.Thr33505Ser)
c.100510A>T (p.Thr33504Ser)
c.97552A>T (p.Thr32518Ser)
c.79168A>T (p.Thr26390Ser)
c.100663A>T (p.Thr33555Ser)
c.100660A>T (p.Thr33554Ser)
c.100093A>T (p.Thr33365Ser)
c.97435A>T (p.Thr32479Ser)
c.97354A>T (p.Thr32452Ser)
c.79117A>T (p.Thr26373Ser)
c.68971A>T (p.Thr22991Ser)
2g.178530393T>CCA349406547TTN,TTN-AS1c.98518A>G (p.Thr32840Ala)
c.79603A>G (p.Thr26535Ala)
c.79402A>G (p.Thr26468Ala)
c.79027A>G (p.Thr26343Ala)
c.106222A>G (p.Thr35408Ala)
c.101299A>G (p.Thr33767Ala)
n.446+6757T>C
n.220-5339T>C
c.105319A>G (p.Thr35107Ala)
c.79213A>G (p.Thr26405Ala)
c.79072A>G (p.Thr26358Ala)
c.105115A>G (p.Thr35039Ala)
c.100513A>G (p.Thr33505Ala)
c.100510A>G (p.Thr33504Ala)
c.97552A>G (p.Thr32518Ala)
c.79168A>G (p.Thr26390Ala)
c.100663A>G (p.Thr33555Ala)
c.100660A>G (p.Thr33554Ala)
c.100093A>G (p.Thr33365Ala)
c.97435A>G (p.Thr32479Ala)
c.97354A>G (p.Thr32452Ala)
c.79117A>G (p.Thr26373Ala)
c.68971A>G (p.Thr22991Ala)
 gnomAD v4
2g.178530393T>GCA349406550TTN,TTN-AS1c.98518A>C (p.Thr32840Pro)
c.79603A>C (p.Thr26535Pro)
c.79402A>C (p.Thr26468Pro)
c.79027A>C (p.Thr26343Pro)
c.106222A>C (p.Thr35408Pro)
c.101299A>C (p.Thr33767Pro)
n.446+6757T>G
n.220-5339T>G
c.105319A>C (p.Thr35107Pro)
c.79213A>C (p.Thr26405Pro)
c.79072A>C (p.Thr26358Pro)
c.105115A>C (p.Thr35039Pro)
c.100513A>C (p.Thr33505Pro)
c.100510A>C (p.Thr33504Pro)
c.97552A>C (p.Thr32518Pro)
c.79168A>C (p.Thr26390Pro)
c.100663A>C (p.Thr33555Pro)
c.100660A>C (p.Thr33554Pro)
c.100093A>C (p.Thr33365Pro)
c.97435A>C (p.Thr32479Pro)
c.97354A>C (p.Thr32452Pro)
c.79117A>C (p.Thr26373Pro)
c.68971A>C (p.Thr22991Pro)
2g.178530397dupCA1310514582TTN,TTN-AS1c.98518dup (p.Thr32840AsnfsTer2)
c.79603dup (p.Thr26535AsnfsTer2)
c.79402dup (p.Thr26468AsnfsTer2)
c.79027dup (p.Thr26343AsnfsTer2)
c.106222dup (p.Thr35408AsnfsTer2)
c.101299dup (p.Thr33767AsnfsTer2)
n.446+6761dup
n.220-5335dup
c.105319dup (p.Thr35107AsnfsTer2)
c.79213dup (p.Thr26405AsnfsTer2)
c.79072dup (p.Thr26358AsnfsTer2)
c.105115dup (p.Thr35039AsnfsTer2)
c.100513dup (p.Thr33505AsnfsTer2)
c.100510dup (p.Thr33504AsnfsTer2)
c.97552dup (p.Thr32518AsnfsTer2)
c.79168dup (p.Thr26390AsnfsTer2)
c.100663dup (p.Thr33555AsnfsTer2)
c.100660dup (p.Thr33554AsnfsTer2)
c.100093dup (p.Thr33365AsnfsTer2)
c.97435dup (p.Thr32479AsnfsTer2)
c.97354dup (p.Thr32452AsnfsTer2)
c.79117dup (p.Thr26373AsnfsTer2)
c.68971dup (p.Thr22991AsnfsTer2)
 dbSNP
2g.178530397delCA2662125713TTN,TTN-AS1c.98518del (p.Thr32840LeufsTer14)
c.79603del (p.Thr26535LeufsTer14)
c.79402del (p.Thr26468LeufsTer14)
c.79027del (p.Thr26343LeufsTer14)
c.106222del (p.Thr35408LeufsTer14)
c.101299del (p.Thr33767LeufsTer14)
n.446+6761del
n.220-5335del
c.105319del (p.Thr35107LeufsTer14)
c.79213del (p.Thr26405LeufsTer14)
c.79072del (p.Thr26358LeufsTer14)
c.105115del (p.Thr35039LeufsTer14)
c.100513del (p.Thr33505LeufsTer14)
c.100510del (p.Thr33504LeufsTer14)
c.97552del (p.Thr32518LeufsTer14)
c.79168del (p.Thr26390LeufsTer14)
c.100663del (p.Thr33555LeufsTer14)
c.100660del (p.Thr33554LeufsTer14)
c.100093del (p.Thr33365LeufsTer14)
c.97435del (p.Thr32479LeufsTer14)
c.97354del (p.Thr32452LeufsTer14)
c.79117del (p.Thr26373LeufsTer14)
c.68971del (p.Thr22991LeufsTer14)
 gnomAD v4
2g.178530394T>ACA349406552TTN,TTN-AS1c.98517A>T (p.Lys32839Asn)
c.79602A>T (p.Lys26534Asn)
c.79401A>T (p.Lys26467Asn)
c.79026A>T (p.Lys26342Asn)
c.106221A>T (p.Lys35407Asn)
c.101298A>T (p.Lys33766Asn)
n.446+6758T>A
n.220-5338T>A
c.105318A>T (p.Lys35106Asn)
c.79212A>T (p.Lys26404Asn)
c.79071A>T (p.Lys26357Asn)
c.105114A>T (p.Lys35038Asn)
c.100512A>T (p.Lys33504Asn)
c.100509A>T (p.Lys33503Asn)
c.97551A>T (p.Lys32517Asn)
c.79167A>T (p.Lys26389Asn)
c.100662A>T (p.Lys33554Asn)
c.100659A>T (p.Lys33553Asn)
c.100092A>T (p.Lys33364Asn)
c.97434A>T (p.Lys32478Asn)
c.97353A>T (p.Lys32451Asn)
c.79116A>T (p.Lys26372Asn)
c.68970A>T (p.Lys22990Asn)
2g.178530394T>CCA430235273TTN,TTN-AS1c.98517A>G (p.Lys32839=)
c.79602A>G (p.Lys26534=)
c.79401A>G (p.Lys26467=)
c.79026A>G (p.Lys26342=)
c.106221A>G (p.Lys35407=)
c.101298A>G (p.Lys33766=)
n.446+6758T>C
n.220-5338T>C
c.105318A>G (p.Lys35106=)
c.79212A>G (p.Lys26404=)
c.79071A>G (p.Lys26357=)
c.105114A>G (p.Lys35038=)
c.100512A>G (p.Lys33504=)
c.100509A>G (p.Lys33503=)
c.97551A>G (p.Lys32517=)
c.79167A>G (p.Lys26389=)
c.100662A>G (p.Lys33554=)
c.100659A>G (p.Lys33553=)
c.100092A>G (p.Lys33364=)
c.97434A>G (p.Lys32478=)
c.97353A>G (p.Lys32451=)
c.79116A>G (p.Lys26372=)
c.68970A>G (p.Lys22990=)
2g.178530394T>GCA349406554TTN,TTN-AS1c.98517A>C (p.Lys32839Asn)
c.79602A>C (p.Lys26534Asn)
c.79401A>C (p.Lys26467Asn)
c.79026A>C (p.Lys26342Asn)
c.106221A>C (p.Lys35407Asn)
c.101298A>C (p.Lys33766Asn)
n.446+6758T>G
n.220-5338T>G
c.105318A>C (p.Lys35106Asn)
c.79212A>C (p.Lys26404Asn)
c.79071A>C (p.Lys26357Asn)
c.105114A>C (p.Lys35038Asn)
c.100512A>C (p.Lys33504Asn)
c.100509A>C (p.Lys33503Asn)
c.97551A>C (p.Lys32517Asn)
c.79167A>C (p.Lys26389Asn)
c.100662A>C (p.Lys33554Asn)
c.100659A>C (p.Lys33553Asn)
c.100092A>C (p.Lys33364Asn)
c.97434A>C (p.Lys32478Asn)
c.97353A>C (p.Lys32451Asn)
c.79116A>C (p.Lys26372Asn)
c.68970A>C (p.Lys22990Asn)
2g.178530395T>ACA349406556TTN,TTN-AS1c.98516A>T (p.Lys32839Ile)
c.79601A>T (p.Lys26534Ile)
c.79400A>T (p.Lys26467Ile)
c.79025A>T (p.Lys26342Ile)
c.106220A>T (p.Lys35407Ile)
c.101297A>T (p.Lys33766Ile)
n.446+6759T>A
n.220-5337T>A
c.105317A>T (p.Lys35106Ile)
c.79211A>T (p.Lys26404Ile)
c.79070A>T (p.Lys26357Ile)
c.105113A>T (p.Lys35038Ile)
c.100511A>T (p.Lys33504Ile)
c.100508A>T (p.Lys33503Ile)
c.97550A>T (p.Lys32517Ile)
c.79166A>T (p.Lys26389Ile)
c.100661A>T (p.Lys33554Ile)
c.100658A>T (p.Lys33553Ile)
c.100091A>T (p.Lys33364Ile)
c.97433A>T (p.Lys32478Ile)
c.97352A>T (p.Lys32451Ile)
c.79115A>T (p.Lys26372Ile)
c.68969A>T (p.Lys22990Ile)
2g.178530395T>CCA349406558TTN,TTN-AS1c.98516A>G (p.Lys32839Arg)
c.79601A>G (p.Lys26534Arg)
c.79400A>G (p.Lys26467Arg)
c.79025A>G (p.Lys26342Arg)
c.106220A>G (p.Lys35407Arg)
c.101297A>G (p.Lys33766Arg)
n.446+6759T>C
n.220-5337T>C
c.105317A>G (p.Lys35106Arg)
c.79211A>G (p.Lys26404Arg)
c.79070A>G (p.Lys26357Arg)
c.105113A>G (p.Lys35038Arg)
c.100511A>G (p.Lys33504Arg)
c.100508A>G (p.Lys33503Arg)
c.97550A>G (p.Lys32517Arg)
c.79166A>G (p.Lys26389Arg)
c.100661A>G (p.Lys33554Arg)
c.100658A>G (p.Lys33553Arg)
c.100091A>G (p.Lys33364Arg)
c.97433A>G (p.Lys32478Arg)
c.97352A>G (p.Lys32451Arg)
c.79115A>G (p.Lys26372Arg)
c.68969A>G (p.Lys22990Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178530395T>GCA349406560TTN,TTN-AS1c.98516A>C (p.Lys32839Thr)
c.79601A>C (p.Lys26534Thr)
c.79400A>C (p.Lys26467Thr)
c.79025A>C (p.Lys26342Thr)
c.106220A>C (p.Lys35407Thr)
c.101297A>C (p.Lys33766Thr)
n.446+6759T>G
n.220-5337T>G
c.105317A>C (p.Lys35106Thr)
c.79211A>C (p.Lys26404Thr)
c.79070A>C (p.Lys26357Thr)
c.105113A>C (p.Lys35038Thr)
c.100511A>C (p.Lys33504Thr)
c.100508A>C (p.Lys33503Thr)
c.97550A>C (p.Lys32517Thr)
c.79166A>C (p.Lys26389Thr)
c.100661A>C (p.Lys33554Thr)
c.100658A>C (p.Lys33553Thr)
c.100091A>C (p.Lys33364Thr)
c.97433A>C (p.Lys32478Thr)
c.97352A>C (p.Lys32451Thr)
c.79115A>C (p.Lys26372Thr)
c.68969A>C (p.Lys22990Thr)
2g.178530395T=CA1310514583TTN,TTN-AS1c.98516A= (p.Lys32839=)
c.79601A= (p.Lys26534=)
c.79400A= (p.Lys26467=)
c.79025A= (p.Lys26342=)
c.106220A= (p.Lys35407=)
c.101297A= (p.Lys33766=)
n.446+6759T=
n.220-5337T=
c.105317A= (p.Lys35106=)
c.79211A= (p.Lys26404=)
c.79070A= (p.Lys26357=)
c.105113A= (p.Lys35038=)
c.100511A= (p.Lys33504=)
c.100508A= (p.Lys33503=)
c.97550A= (p.Lys32517=)
c.79166A= (p.Lys26389=)
c.100661A= (p.Lys33554=)
c.100658A= (p.Lys33553=)
c.100091A= (p.Lys33364=)
c.97433A= (p.Lys32478=)
c.97352A= (p.Lys32451=)
c.79115A= (p.Lys26372=)
c.68969A= (p.Lys22990=)
2g.178530396T>ACA349406562TTN,TTN-AS1c.98515A>T (p.Lys32839Ter)
c.79600A>T (p.Lys26534Ter)
c.79399A>T (p.Lys26467Ter)
c.79024A>T (p.Lys26342Ter)
c.106219A>T (p.Lys35407Ter)
c.101296A>T (p.Lys33766Ter)
n.446+6760T>A
n.220-5336T>A
c.105316A>T (p.Lys35106Ter)
c.79210A>T (p.Lys26404Ter)
c.79069A>T (p.Lys26357Ter)
c.105112A>T (p.Lys35038Ter)
c.100510A>T (p.Lys33504Ter)
c.100507A>T (p.Lys33503Ter)
c.97549A>T (p.Lys32517Ter)
c.79165A>T (p.Lys26389Ter)
c.100660A>T (p.Lys33554Ter)
c.100657A>T (p.Lys33553Ter)
c.100090A>T (p.Lys33364Ter)
c.97432A>T (p.Lys32478Ter)
c.97351A>T (p.Lys32451Ter)
c.79114A>T (p.Lys26372Ter)
c.68968A>T (p.Lys22990Ter)
2g.178530396T>CCA349406565TTN,TTN-AS1c.98515A>G (p.Lys32839Glu)
c.79600A>G (p.Lys26534Glu)
c.79399A>G (p.Lys26467Glu)
c.79024A>G (p.Lys26342Glu)
c.106219A>G (p.Lys35407Glu)
c.101296A>G (p.Lys33766Glu)
n.446+6760T>C
n.220-5336T>C
c.105316A>G (p.Lys35106Glu)
c.79210A>G (p.Lys26404Glu)
c.79069A>G (p.Lys26357Glu)
c.105112A>G (p.Lys35038Glu)
c.100510A>G (p.Lys33504Glu)
c.100507A>G (p.Lys33503Glu)
c.97549A>G (p.Lys32517Glu)
c.79165A>G (p.Lys26389Glu)
c.100660A>G (p.Lys33554Glu)
c.100657A>G (p.Lys33553Glu)
c.100090A>G (p.Lys33364Glu)
c.97432A>G (p.Lys32478Glu)
c.97351A>G (p.Lys32451Glu)
c.79114A>G (p.Lys26372Glu)
c.68968A>G (p.Lys22990Glu)
 ClinVar dbSNP
2g.178530396T>GCA349406567TTN,TTN-AS1c.98515A>C (p.Lys32839Gln)
c.79600A>C (p.Lys26534Gln)
c.79399A>C (p.Lys26467Gln)
c.79024A>C (p.Lys26342Gln)
c.106219A>C (p.Lys35407Gln)
c.101296A>C (p.Lys33766Gln)
n.446+6760T>G
n.220-5336T>G
c.105316A>C (p.Lys35106Gln)
c.79210A>C (p.Lys26404Gln)
c.79069A>C (p.Lys26357Gln)
c.105112A>C (p.Lys35038Gln)
c.100510A>C (p.Lys33504Gln)
c.100507A>C (p.Lys33503Gln)
c.97549A>C (p.Lys32517Gln)
c.79165A>C (p.Lys26389Gln)
c.100660A>C (p.Lys33554Gln)
c.100657A>C (p.Lys33553Gln)
c.100090A>C (p.Lys33364Gln)
c.97432A>C (p.Lys32478Gln)
c.97351A>C (p.Lys32451Gln)
c.79114A>C (p.Lys26372Gln)
c.68968A>C (p.Lys22990Gln)
2g.178530396T=CA1310514585TTN,TTN-AS1c.98515A= (p.Lys32839=)
c.79600A= (p.Lys26534=)
c.79399A= (p.Lys26467=)
c.79024A= (p.Lys26342=)
c.106219A= (p.Lys35407=)
c.101296A= (p.Lys33766=)
n.446+6760T=
n.220-5336T=
c.105316A= (p.Lys35106=)
c.79210A= (p.Lys26404=)
c.79069A= (p.Lys26357=)
c.105112A= (p.Lys35038=)
c.100510A= (p.Lys33504=)
c.100507A= (p.Lys33503=)
c.97549A= (p.Lys32517=)
c.79165A= (p.Lys26389=)
c.100660A= (p.Lys33554=)
c.100657A= (p.Lys33553=)
c.100090A= (p.Lys33364=)
c.97432A= (p.Lys32478=)
c.97351A= (p.Lys32451=)
c.79114A= (p.Lys26372=)
c.68968A= (p.Lys22990=)
2g.178530397T>ACA349406570TTN,TTN-AS1c.98514A>T (p.Arg32838Ser)
c.79599A>T (p.Arg26533Ser)
c.79398A>T (p.Arg26466Ser)
c.79023A>T (p.Arg26341Ser)
c.106218A>T (p.Arg35406Ser)
c.101295A>T (p.Arg33765Ser)
n.446+6761T>A
n.220-5335T>A
c.105315A>T (p.Arg35105Ser)
c.79209A>T (p.Arg26403Ser)
c.79068A>T (p.Arg26356Ser)
c.105111A>T (p.Arg35037Ser)
c.100509A>T (p.Arg33503Ser)
c.100506A>T (p.Arg33502Ser)
c.97548A>T (p.Arg32516Ser)
c.79164A>T (p.Arg26388Ser)
c.100659A>T (p.Arg33553Ser)
c.100656A>T (p.Arg33552Ser)
c.100089A>T (p.Arg33363Ser)
c.97431A>T (p.Arg32477Ser)
c.97350A>T (p.Arg32450Ser)
c.79113A>T (p.Arg26371Ser)
c.68967A>T (p.Arg22989Ser)
2g.178530397T>CCA430235276TTN,TTN-AS1c.98514A>G (p.Arg32838=)
c.79599A>G (p.Arg26533=)
c.79398A>G (p.Arg26466=)
c.79023A>G (p.Arg26341=)
c.106218A>G (p.Arg35406=)
c.101295A>G (p.Arg33765=)
n.446+6761T>C
n.220-5335T>C
c.105315A>G (p.Arg35105=)
c.79209A>G (p.Arg26403=)
c.79068A>G (p.Arg26356=)
c.105111A>G (p.Arg35037=)
c.100509A>G (p.Arg33503=)
c.100506A>G (p.Arg33502=)
c.97548A>G (p.Arg32516=)
c.79164A>G (p.Arg26388=)
c.100659A>G (p.Arg33553=)
c.100656A>G (p.Arg33552=)
c.100089A>G (p.Arg33363=)
c.97431A>G (p.Arg32477=)
c.97350A>G (p.Arg32450=)
c.79113A>G (p.Arg26371=)
c.68967A>G (p.Arg22989=)
2g.178530397T>GCA349406571TTN,TTN-AS1c.98514A>C (p.Arg32838Ser)
c.79599A>C (p.Arg26533Ser)
c.79398A>C (p.Arg26466Ser)
c.79023A>C (p.Arg26341Ser)
c.106218A>C (p.Arg35406Ser)
c.101295A>C (p.Arg33765Ser)
n.446+6761T>G
n.220-5335T>G
c.105315A>C (p.Arg35105Ser)
c.79209A>C (p.Arg26403Ser)
c.79068A>C (p.Arg26356Ser)
c.105111A>C (p.Arg35037Ser)
c.100509A>C (p.Arg33503Ser)
c.100506A>C (p.Arg33502Ser)
c.97548A>C (p.Arg32516Ser)
c.79164A>C (p.Arg26388Ser)
c.100659A>C (p.Arg33553Ser)
c.100656A>C (p.Arg33552Ser)
c.100089A>C (p.Arg33363Ser)
c.97431A>C (p.Arg32477Ser)
c.97350A>C (p.Arg32450Ser)
c.79113A>C (p.Arg26371Ser)
c.68967A>C (p.Arg22989Ser)
2g.178530398delCA2753330745TTN,TTN-AS1c.98513del (p.Arg32838LysfsTer16)
c.79598del (p.Arg26533LysfsTer16)
c.79397del (p.Arg26466LysfsTer16)
c.79022del (p.Arg26341LysfsTer16)
c.106217del (p.Arg35406LysfsTer16)
c.101294del (p.Arg33765LysfsTer16)
n.446+6762del
n.220-5334del
c.105314del (p.Arg35105LysfsTer16)
c.79208del (p.Arg26403LysfsTer16)
c.79067del (p.Arg26356LysfsTer16)
c.105110del (p.Arg35037LysfsTer16)
c.100508del (p.Arg33503LysfsTer16)
c.100505del (p.Arg33502LysfsTer16)
c.97547del (p.Arg32516LysfsTer16)
c.79163del (p.Arg26388LysfsTer16)
c.100658del (p.Arg33553LysfsTer16)
c.100655del (p.Arg33552LysfsTer16)
c.100088del (p.Arg33363LysfsTer16)
c.97430del (p.Arg32477LysfsTer16)
c.97349del (p.Arg32450LysfsTer16)
c.79112del (p.Arg26371LysfsTer16)
c.68966del (p.Arg22989LysfsTer16)
2g.178530398C>ACA349406578TTN,TTN-AS1c.98513G>T (p.Arg32838Ile)
c.79598G>T (p.Arg26533Ile)
c.79397G>T (p.Arg26466Ile)
c.79022G>T (p.Arg26341Ile)
c.106217G>T (p.Arg35406Ile)
c.101294G>T (p.Arg33765Ile)
n.446+6762C>A
n.220-5334C>A
c.105314G>T (p.Arg35105Ile)
c.79208G>T (p.Arg26403Ile)
c.79067G>T (p.Arg26356Ile)
c.105110G>T (p.Arg35037Ile)
c.100508G>T (p.Arg33503Ile)
c.100505G>T (p.Arg33502Ile)
c.97547G>T (p.Arg32516Ile)
c.79163G>T (p.Arg26388Ile)
c.100658G>T (p.Arg33553Ile)
c.100655G>T (p.Arg33552Ile)
c.100088G>T (p.Arg33363Ile)
c.97430G>T (p.Arg32477Ile)
c.97349G>T (p.Arg32450Ile)
c.79112G>T (p.Arg26371Ile)
c.68966G>T (p.Arg22989Ile)
2g.178530398C=CA1310514588TTN,TTN-AS1c.98513G= (p.Arg32838=)
c.79598G= (p.Arg26533=)
c.79397G= (p.Arg26466=)
c.79022G= (p.Arg26341=)
c.106217G= (p.Arg35406=)
c.101294G= (p.Arg33765=)
n.446+6762C=
n.220-5334C=
c.105314G= (p.Arg35105=)
c.79208G= (p.Arg26403=)
c.79067G= (p.Arg26356=)
c.105110G= (p.Arg35037=)
c.100508G= (p.Arg33503=)
c.100505G= (p.Arg33502=)
c.97547G= (p.Arg32516=)
c.79163G= (p.Arg26388=)
c.100658G= (p.Arg33553=)
c.100655G= (p.Arg33552=)
c.100088G= (p.Arg33363=)
c.97430G= (p.Arg32477=)
c.97349G= (p.Arg32450=)
c.79112G= (p.Arg26371=)
c.68966G= (p.Arg22989=)
2g.178530398C>GCA1985143TTN,TTN-AS1c.98513G>C (p.Arg32838Thr)
c.79598G>C (p.Arg26533Thr)
c.79397G>C (p.Arg26466Thr)
c.79022G>C (p.Arg26341Thr)
c.106217G>C (p.Arg35406Thr)
c.101294G>C (p.Arg33765Thr)
n.446+6762C>G
n.220-5334C>G
c.105314G>C (p.Arg35105Thr)
c.79208G>C (p.Arg26403Thr)
c.79067G>C (p.Arg26356Thr)
c.105110G>C (p.Arg35037Thr)
c.100508G>C (p.Arg33503Thr)
c.100505G>C (p.Arg33502Thr)
c.97547G>C (p.Arg32516Thr)
c.79163G>C (p.Arg26388Thr)
c.100658G>C (p.Arg33553Thr)
c.100655G>C (p.Arg33552Thr)
c.100088G>C (p.Arg33363Thr)
c.97430G>C (p.Arg32477Thr)
c.97349G>C (p.Arg32450Thr)
c.79112G>C (p.Arg26371Thr)
c.68966G>C (p.Arg22989Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530398C>TCA1985144TTN,TTN-AS1c.98513G>A (p.Arg32838Lys)
c.79598G>A (p.Arg26533Lys)
c.79397G>A (p.Arg26466Lys)
c.79022G>A (p.Arg26341Lys)
c.106217G>A (p.Arg35406Lys)
c.101294G>A (p.Arg33765Lys)
n.446+6762C>T
n.220-5334C>T
c.105314G>A (p.Arg35105Lys)
c.79208G>A (p.Arg26403Lys)
c.79067G>A (p.Arg26356Lys)
c.105110G>A (p.Arg35037Lys)
c.100508G>A (p.Arg33503Lys)
c.100505G>A (p.Arg33502Lys)
c.97547G>A (p.Arg32516Lys)
c.79163G>A (p.Arg26388Lys)
c.100658G>A (p.Arg33553Lys)
c.100655G>A (p.Arg33552Lys)
c.100088G>A (p.Arg33363Lys)
c.97430G>A (p.Arg32477Lys)
c.97349G>A (p.Arg32450Lys)
c.79112G>A (p.Arg26371Lys)
c.68966G>A (p.Arg22989Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530399T>ACA349406580TTN,TTN-AS1c.98512A>T (p.Arg32838Ter)
c.79597A>T (p.Arg26533Ter)
c.79396A>T (p.Arg26466Ter)
c.79021A>T (p.Arg26341Ter)
c.106216A>T (p.Arg35406Ter)
c.101293A>T (p.Arg33765Ter)
n.446+6763T>A
n.220-5333T>A
c.105313A>T (p.Arg35105Ter)
c.79207A>T (p.Arg26403Ter)
c.79066A>T (p.Arg26356Ter)
c.105109A>T (p.Arg35037Ter)
c.100507A>T (p.Arg33503Ter)
c.100504A>T (p.Arg33502Ter)
c.97546A>T (p.Arg32516Ter)
c.79162A>T (p.Arg26388Ter)
c.100657A>T (p.Arg33553Ter)
c.100654A>T (p.Arg33552Ter)
c.100087A>T (p.Arg33363Ter)
c.97429A>T (p.Arg32477Ter)
c.97348A>T (p.Arg32450Ter)
c.79111A>T (p.Arg26371Ter)
c.68965A>T (p.Arg22989Ter)
2g.178530399T>CCA349406582TTN,TTN-AS1c.98512A>G (p.Arg32838Gly)
c.79597A>G (p.Arg26533Gly)
c.79396A>G (p.Arg26466Gly)
c.79021A>G (p.Arg26341Gly)
c.106216A>G (p.Arg35406Gly)
c.101293A>G (p.Arg33765Gly)
n.446+6763T>C
n.220-5333T>C
c.105313A>G (p.Arg35105Gly)
c.79207A>G (p.Arg26403Gly)
c.79066A>G (p.Arg26356Gly)
c.105109A>G (p.Arg35037Gly)
c.100507A>G (p.Arg33503Gly)
c.100504A>G (p.Arg33502Gly)
c.97546A>G (p.Arg32516Gly)
c.79162A>G (p.Arg26388Gly)
c.100657A>G (p.Arg33553Gly)
c.100654A>G (p.Arg33552Gly)
c.100087A>G (p.Arg33363Gly)
c.97429A>G (p.Arg32477Gly)
c.97348A>G (p.Arg32450Gly)
c.79111A>G (p.Arg26371Gly)
c.68965A>G (p.Arg22989Gly)
2g.178530399T>GCA430235279TTN,TTN-AS1c.98512A>C (p.Arg32838=)
c.79597A>C (p.Arg26533=)
c.79396A>C (p.Arg26466=)
c.79021A>C (p.Arg26341=)
c.106216A>C (p.Arg35406=)
c.101293A>C (p.Arg33765=)
n.446+6763T>G
n.220-5333T>G
c.105313A>C (p.Arg35105=)
c.79207A>C (p.Arg26403=)
c.79066A>C (p.Arg26356=)
c.105109A>C (p.Arg35037=)
c.100507A>C (p.Arg33503=)
c.100504A>C (p.Arg33502=)
c.97546A>C (p.Arg32516=)
c.79162A>C (p.Arg26388=)
c.100657A>C (p.Arg33553=)
c.100654A>C (p.Arg33552=)
c.100087A>C (p.Arg33363=)
c.97429A>C (p.Arg32477=)
c.97348A>C (p.Arg32450=)
c.79111A>C (p.Arg26371=)
c.68965A>C (p.Arg22989=)
 ClinVar dbSNP gnomAD v4
2g.178530399T=CA1310514590TTN,TTN-AS1c.98512A= (p.Arg32838=)
c.79597A= (p.Arg26533=)
c.79396A= (p.Arg26466=)
c.79021A= (p.Arg26341=)
c.106216A= (p.Arg35406=)
c.101293A= (p.Arg33765=)
n.446+6763T=
n.220-5333T=
c.105313A= (p.Arg35105=)
c.79207A= (p.Arg26403=)
c.79066A= (p.Arg26356=)
c.105109A= (p.Arg35037=)
c.100507A= (p.Arg33503=)
c.100504A= (p.Arg33502=)
c.97546A= (p.Arg32516=)
c.79162A= (p.Arg26388=)
c.100657A= (p.Arg33553=)
c.100654A= (p.Arg33552=)
c.100087A= (p.Arg33363=)
c.97429A= (p.Arg32477=)
c.97348A= (p.Arg32450=)
c.79111A= (p.Arg26371=)
c.68965A= (p.Arg22989=)
2g.178530400G>ACA10587441TTN,TTN-AS1c.98511C>T (p.Thr32837=)
c.79596C>T (p.Thr26532=)
c.79395C>T (p.Thr26465=)
c.79020C>T (p.Thr26340=)
c.106215C>T (p.Thr35405=)
c.101292C>T (p.Thr33764=)
n.446+6764G>A
n.220-5332G>A
c.105312C>T (p.Thr35104=)
c.79206C>T (p.Thr26402=)
c.79065C>T (p.Thr26355=)
c.105108C>T (p.Thr35036=)
c.100506C>T (p.Thr33502=)
c.100503C>T (p.Thr33501=)
c.97545C>T (p.Thr32515=)
c.79161C>T (p.Thr26387=)
c.100656C>T (p.Thr33552=)
c.100653C>T (p.Thr33551=)
c.100086C>T (p.Thr33362=)
c.97428C>T (p.Thr32476=)
c.97347C>T (p.Thr32449=)
c.79110C>T (p.Thr26370=)
c.68964C>T (p.Thr22988=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530400G>CCA430235282TTN,TTN-AS1c.98511C>G (p.Thr32837=)
c.79596C>G (p.Thr26532=)
c.79395C>G (p.Thr26465=)
c.79020C>G (p.Thr26340=)
c.106215C>G (p.Thr35405=)
c.101292C>G (p.Thr33764=)
n.446+6764G>C
n.220-5332G>C
c.105312C>G (p.Thr35104=)
c.79206C>G (p.Thr26402=)
c.79065C>G (p.Thr26355=)
c.105108C>G (p.Thr35036=)
c.100506C>G (p.Thr33502=)
c.100503C>G (p.Thr33501=)
c.97545C>G (p.Thr32515=)
c.79161C>G (p.Thr26387=)
c.100656C>G (p.Thr33552=)
c.100653C>G (p.Thr33551=)
c.100086C>G (p.Thr33362=)
c.97428C>G (p.Thr32476=)
c.97347C>G (p.Thr32449=)
c.79110C>G (p.Thr26370=)
c.68964C>G (p.Thr22988=)
2g.178530400G=CA1310514592TTN,TTN-AS1c.98511C= (p.Thr32837=)
c.79596C= (p.Thr26532=)
c.79395C= (p.Thr26465=)
c.79020C= (p.Thr26340=)
c.106215C= (p.Thr35405=)
c.101292C= (p.Thr33764=)
n.446+6764G=
n.220-5332G=
c.105312C= (p.Thr35104=)
c.79206C= (p.Thr26402=)
c.79065C= (p.Thr26355=)
c.105108C= (p.Thr35036=)
c.100506C= (p.Thr33502=)
c.100503C= (p.Thr33501=)
c.97545C= (p.Thr32515=)
c.79161C= (p.Thr26387=)
c.100656C= (p.Thr33552=)
c.100653C= (p.Thr33551=)
c.100086C= (p.Thr33362=)
c.97428C= (p.Thr32476=)
c.97347C= (p.Thr32449=)
c.79110C= (p.Thr26370=)
c.68964C= (p.Thr22988=)
2g.178530400G>TCA430235280TTN,TTN-AS1c.98511C>A (p.Thr32837=)
c.79596C>A (p.Thr26532=)
c.79395C>A (p.Thr26465=)
c.79020C>A (p.Thr26340=)
c.106215C>A (p.Thr35405=)
c.101292C>A (p.Thr33764=)
n.446+6764G>T
n.220-5332G>T
c.105312C>A (p.Thr35104=)
c.79206C>A (p.Thr26402=)
c.79065C>A (p.Thr26355=)
c.105108C>A (p.Thr35036=)
c.100506C>A (p.Thr33502=)
c.100503C>A (p.Thr33501=)
c.97545C>A (p.Thr32515=)
c.79161C>A (p.Thr26387=)
c.100656C>A (p.Thr33552=)
c.100653C>A (p.Thr33551=)
c.100086C>A (p.Thr33362=)
c.97428C>A (p.Thr32476=)
c.97347C>A (p.Thr32449=)
c.79110C>A (p.Thr26370=)
c.68964C>A (p.Thr22988=)
2g.178530401G>ACA349406586TTN,TTN-AS1c.98510C>T (p.Thr32837Ile)
c.79595C>T (p.Thr26532Ile)
c.79394C>T (p.Thr26465Ile)
c.79019C>T (p.Thr26340Ile)
c.106214C>T (p.Thr35405Ile)
c.101291C>T (p.Thr33764Ile)
n.446+6765G>A
n.220-5331G>A
c.105311C>T (p.Thr35104Ile)
c.79205C>T (p.Thr26402Ile)
c.79064C>T (p.Thr26355Ile)
c.105107C>T (p.Thr35036Ile)
c.100505C>T (p.Thr33502Ile)
c.100502C>T (p.Thr33501Ile)
c.97544C>T (p.Thr32515Ile)
c.79160C>T (p.Thr26387Ile)
c.100655C>T (p.Thr33552Ile)
c.100652C>T (p.Thr33551Ile)
c.100085C>T (p.Thr33362Ile)
c.97427C>T (p.Thr32476Ile)
c.97346C>T (p.Thr32449Ile)
c.79109C>T (p.Thr26370Ile)
c.68963C>T (p.Thr22988Ile)
2g.178530401G>CCA349406588TTN,TTN-AS1c.98510C>G (p.Thr32837Ser)
c.79595C>G (p.Thr26532Ser)
c.79394C>G (p.Thr26465Ser)
c.79019C>G (p.Thr26340Ser)
c.106214C>G (p.Thr35405Ser)
c.101291C>G (p.Thr33764Ser)
n.446+6765G>C
n.220-5331G>C
c.105311C>G (p.Thr35104Ser)
c.79205C>G (p.Thr26402Ser)
c.79064C>G (p.Thr26355Ser)
c.105107C>G (p.Thr35036Ser)
c.100505C>G (p.Thr33502Ser)
c.100502C>G (p.Thr33501Ser)
c.97544C>G (p.Thr32515Ser)
c.79160C>G (p.Thr26387Ser)
c.100655C>G (p.Thr33552Ser)
c.100652C>G (p.Thr33551Ser)
c.100085C>G (p.Thr33362Ser)
c.97427C>G (p.Thr32476Ser)
c.97346C>G (p.Thr32449Ser)
c.79109C>G (p.Thr26370Ser)
c.68963C>G (p.Thr22988Ser)
 ClinVar dbSNP gnomAD v4
2g.178530401G=CA1310514595TTN,TTN-AS1c.98510C= (p.Thr32837=)
c.79595C= (p.Thr26532=)
c.79394C= (p.Thr26465=)
c.79019C= (p.Thr26340=)
c.106214C= (p.Thr35405=)
c.101291C= (p.Thr33764=)
n.446+6765G=
n.220-5331G=
c.105311C= (p.Thr35104=)
c.79205C= (p.Thr26402=)
c.79064C= (p.Thr26355=)
c.105107C= (p.Thr35036=)
c.100505C= (p.Thr33502=)
c.100502C= (p.Thr33501=)
c.97544C= (p.Thr32515=)
c.79160C= (p.Thr26387=)
c.100655C= (p.Thr33552=)
c.100652C= (p.Thr33551=)
c.100085C= (p.Thr33362=)
c.97427C= (p.Thr32476=)
c.97346C= (p.Thr32449=)
c.79109C= (p.Thr26370=)
c.68963C= (p.Thr22988=)
2g.178530401G>TCA349406593TTN,TTN-AS1c.98510C>A (p.Thr32837Asn)
c.79595C>A (p.Thr26532Asn)
c.79394C>A (p.Thr26465Asn)
c.79019C>A (p.Thr26340Asn)
c.106214C>A (p.Thr35405Asn)
c.101291C>A (p.Thr33764Asn)
n.446+6765G>T
n.220-5331G>T
c.105311C>A (p.Thr35104Asn)
c.79205C>A (p.Thr26402Asn)
c.79064C>A (p.Thr26355Asn)
c.105107C>A (p.Thr35036Asn)
c.100505C>A (p.Thr33502Asn)
c.100502C>A (p.Thr33501Asn)
c.97544C>A (p.Thr32515Asn)
c.79160C>A (p.Thr26387Asn)
c.100655C>A (p.Thr33552Asn)
c.100652C>A (p.Thr33551Asn)
c.100085C>A (p.Thr33362Asn)
c.97427C>A (p.Thr32476Asn)
c.97346C>A (p.Thr32449Asn)
c.79109C>A (p.Thr26370Asn)
c.68963C>A (p.Thr22988Asn)
2g.178530402T>ACA349406595TTN,TTN-AS1c.98509A>T (p.Thr32837Ser)
c.79594A>T (p.Thr26532Ser)
c.79393A>T (p.Thr26465Ser)
c.79018A>T (p.Thr26340Ser)
c.106213A>T (p.Thr35405Ser)
c.101290A>T (p.Thr33764Ser)
n.446+6766T>A
n.220-5330T>A
c.105310A>T (p.Thr35104Ser)
c.79204A>T (p.Thr26402Ser)
c.79063A>T (p.Thr26355Ser)
c.105106A>T (p.Thr35036Ser)
c.100504A>T (p.Thr33502Ser)
c.100501A>T (p.Thr33501Ser)
c.97543A>T (p.Thr32515Ser)
c.79159A>T (p.Thr26387Ser)
c.100654A>T (p.Thr33552Ser)
c.100651A>T (p.Thr33551Ser)
c.100084A>T (p.Thr33362Ser)
c.97426A>T (p.Thr32476Ser)
c.97345A>T (p.Thr32449Ser)
c.79108A>T (p.Thr26370Ser)
c.68962A>T (p.Thr22988Ser)
2g.178530402T>CCA349406598TTN,TTN-AS1c.98509A>G (p.Thr32837Ala)
c.79594A>G (p.Thr26532Ala)
c.79393A>G (p.Thr26465Ala)
c.79018A>G (p.Thr26340Ala)
c.106213A>G (p.Thr35405Ala)
c.101290A>G (p.Thr33764Ala)
n.446+6766T>C
n.220-5330T>C
c.105310A>G (p.Thr35104Ala)
c.79204A>G (p.Thr26402Ala)
c.79063A>G (p.Thr26355Ala)
c.105106A>G (p.Thr35036Ala)
c.100504A>G (p.Thr33502Ala)
c.100501A>G (p.Thr33501Ala)
c.97543A>G (p.Thr32515Ala)
c.79159A>G (p.Thr26387Ala)
c.100654A>G (p.Thr33552Ala)
c.100651A>G (p.Thr33551Ala)
c.100084A>G (p.Thr33362Ala)
c.97426A>G (p.Thr32476Ala)
c.97345A>G (p.Thr32449Ala)
c.79108A>G (p.Thr26370Ala)
c.68962A>G (p.Thr22988Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.178530402T>GCA1985145TTN,TTN-AS1c.98509A>C (p.Thr32837Pro)
c.79594A>C (p.Thr26532Pro)
c.79393A>C (p.Thr26465Pro)
c.79018A>C (p.Thr26340Pro)
c.106213A>C (p.Thr35405Pro)
c.101290A>C (p.Thr33764Pro)
n.446+6766T>G
n.220-5330T>G
c.105310A>C (p.Thr35104Pro)
c.79204A>C (p.Thr26402Pro)
c.79063A>C (p.Thr26355Pro)
c.105106A>C (p.Thr35036Pro)
c.100504A>C (p.Thr33502Pro)
c.100501A>C (p.Thr33501Pro)
c.97543A>C (p.Thr32515Pro)
c.79159A>C (p.Thr26387Pro)
c.100654A>C (p.Thr33552Pro)
c.100651A>C (p.Thr33551Pro)
c.100084A>C (p.Thr33362Pro)
c.97426A>C (p.Thr32476Pro)
c.97345A>C (p.Thr32449Pro)
c.79108A>C (p.Thr26370Pro)
c.68962A>C (p.Thr22988Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530402T=CA1310514598TTN,TTN-AS1c.98509A= (p.Thr32837=)
c.79594A= (p.Thr26532=)
c.79393A= (p.Thr26465=)
c.79018A= (p.Thr26340=)
c.106213A= (p.Thr35405=)
c.101290A= (p.Thr33764=)
n.446+6766T=
n.220-5330T=
c.105310A= (p.Thr35104=)
c.79204A= (p.Thr26402=)
c.79063A= (p.Thr26355=)
c.105106A= (p.Thr35036=)
c.100504A= (p.Thr33502=)
c.100501A= (p.Thr33501=)
c.97543A= (p.Thr32515=)
c.79159A= (p.Thr26387=)
c.100654A= (p.Thr33552=)
c.100651A= (p.Thr33551=)
c.100084A= (p.Thr33362=)
c.97426A= (p.Thr32476=)
c.97345A= (p.Thr32449=)
c.79108A= (p.Thr26370=)
c.68962A= (p.Thr22988=)
2g.178530403T>ACA430235283TTN,TTN-AS1c.98508A>T (p.Val32836=)
c.79593A>T (p.Val26531=)
c.79392A>T (p.Val26464=)
c.79017A>T (p.Val26339=)
c.106212A>T (p.Val35404=)
c.101289A>T (p.Val33763=)
n.446+6767T>A
n.220-5329T>A
c.105309A>T (p.Val35103=)
c.79203A>T (p.Val26401=)
c.79062A>T (p.Val26354=)
c.105105A>T (p.Val35035=)
c.100503A>T (p.Val33501=)
c.100500A>T (p.Val33500=)
c.97542A>T (p.Val32514=)
c.79158A>T (p.Val26386=)
c.100653A>T (p.Val33551=)
c.100650A>T (p.Val33550=)
c.100083A>T (p.Val33361=)
c.97425A>T (p.Val32475=)
c.97344A>T (p.Val32448=)
c.79107A>T (p.Val26369=)
c.68961A>T (p.Val22987=)
2g.178530403T>CCA430235284TTN,TTN-AS1c.98508A>G (p.Val32836=)
c.79593A>G (p.Val26531=)
c.79392A>G (p.Val26464=)
c.79017A>G (p.Val26339=)
c.106212A>G (p.Val35404=)
c.101289A>G (p.Val33763=)
n.446+6767T>C
n.220-5329T>C
c.105309A>G (p.Val35103=)
c.79203A>G (p.Val26401=)
c.79062A>G (p.Val26354=)
c.105105A>G (p.Val35035=)
c.100503A>G (p.Val33501=)
c.100500A>G (p.Val33500=)
c.97542A>G (p.Val32514=)
c.79158A>G (p.Val26386=)
c.100653A>G (p.Val33551=)
c.100650A>G (p.Val33550=)
c.100083A>G (p.Val33361=)
c.97425A>G (p.Val32475=)
c.97344A>G (p.Val32448=)
c.79107A>G (p.Val26369=)
c.68961A>G (p.Val22987=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530403T>GCA430235286TTN,TTN-AS1c.98508A>C (p.Val32836=)
c.79593A>C (p.Val26531=)
c.79392A>C (p.Val26464=)
c.79017A>C (p.Val26339=)
c.106212A>C (p.Val35404=)
c.101289A>C (p.Val33763=)
n.446+6767T>G
n.220-5329T>G
c.105309A>C (p.Val35103=)
c.79203A>C (p.Val26401=)
c.79062A>C (p.Val26354=)
c.105105A>C (p.Val35035=)
c.100503A>C (p.Val33501=)
c.100500A>C (p.Val33500=)
c.97542A>C (p.Val32514=)
c.79158A>C (p.Val26386=)
c.100653A>C (p.Val33551=)
c.100650A>C (p.Val33550=)
c.100083A>C (p.Val33361=)
c.97425A>C (p.Val32475=)
c.97344A>C (p.Val32448=)
c.79107A>C (p.Val26369=)
c.68961A>C (p.Val22987=)
 ClinVar dbSNP
2g.178530403T=CA1310514599TTN,TTN-AS1c.98508A= (p.Val32836=)
c.79593A= (p.Val26531=)
c.79392A= (p.Val26464=)
c.79017A= (p.Val26339=)
c.106212A= (p.Val35404=)
c.101289A= (p.Val33763=)
n.446+6767T=
n.220-5329T=
c.105309A= (p.Val35103=)
c.79203A= (p.Val26401=)
c.79062A= (p.Val26354=)
c.105105A= (p.Val35035=)
c.100503A= (p.Val33501=)
c.100500A= (p.Val33500=)
c.97542A= (p.Val32514=)
c.79158A= (p.Val26386=)
c.100653A= (p.Val33551=)
c.100650A= (p.Val33550=)
c.100083A= (p.Val33361=)
c.97425A= (p.Val32475=)
c.97344A= (p.Val32448=)
c.79107A= (p.Val26369=)
c.68961A= (p.Val22987=)
2g.178530404A=CA1310514601TTN,TTN-AS1c.98507T= (p.Val32836=)
c.79592T= (p.Val26531=)
c.79391T= (p.Val26464=)
c.79016T= (p.Val26339=)
c.106211T= (p.Val35404=)
c.101288T= (p.Val33763=)
n.446+6768A=
n.220-5328A=
c.105308T= (p.Val35103=)
c.79202T= (p.Val26401=)
c.79061T= (p.Val26354=)
c.105104T= (p.Val35035=)
c.100502T= (p.Val33501=)
c.100499T= (p.Val33500=)
c.97541T= (p.Val32514=)
c.79157T= (p.Val26386=)
c.100652T= (p.Val33551=)
c.100649T= (p.Val33550=)
c.100082T= (p.Val33361=)
c.97424T= (p.Val32475=)
c.97343T= (p.Val32448=)
c.79106T= (p.Val26369=)
c.68960T= (p.Val22987=)
2g.178530404A>CCA349406599TTN,TTN-AS1c.98507T>G (p.Val32836Gly)
c.79592T>G (p.Val26531Gly)
c.79391T>G (p.Val26464Gly)
c.79016T>G (p.Val26339Gly)
c.106211T>G (p.Val35404Gly)
c.101288T>G (p.Val33763Gly)
n.446+6768A>C
n.220-5328A>C
c.105308T>G (p.Val35103Gly)
c.79202T>G (p.Val26401Gly)
c.79061T>G (p.Val26354Gly)
c.105104T>G (p.Val35035Gly)
c.100502T>G (p.Val33501Gly)
c.100499T>G (p.Val33500Gly)
c.97541T>G (p.Val32514Gly)
c.79157T>G (p.Val26386Gly)
c.100652T>G (p.Val33551Gly)
c.100649T>G (p.Val33550Gly)
c.100082T>G (p.Val33361Gly)
c.97424T>G (p.Val32475Gly)
c.97343T>G (p.Val32448Gly)
c.79106T>G (p.Val26369Gly)
c.68960T>G (p.Val22987Gly)
2g.178530404A>GCA349406600TTN,TTN-AS1c.98507T>C (p.Val32836Ala)
c.79592T>C (p.Val26531Ala)
c.79391T>C (p.Val26464Ala)
c.79016T>C (p.Val26339Ala)
c.106211T>C (p.Val35404Ala)
c.101288T>C (p.Val33763Ala)
n.446+6768A>G
n.220-5328A>G
c.105308T>C (p.Val35103Ala)
c.79202T>C (p.Val26401Ala)
c.79061T>C (p.Val26354Ala)
c.105104T>C (p.Val35035Ala)
c.100502T>C (p.Val33501Ala)
c.100499T>C (p.Val33500Ala)
c.97541T>C (p.Val32514Ala)
c.79157T>C (p.Val26386Ala)
c.100652T>C (p.Val33551Ala)
c.100649T>C (p.Val33550Ala)
c.100082T>C (p.Val33361Ala)
c.97424T>C (p.Val32475Ala)
c.97343T>C (p.Val32448Ala)
c.79106T>C (p.Val26369Ala)
c.68960T>C (p.Val22987Ala)
 ClinVar dbSNP gnomAD v4
2g.178530404A>TCA349406601TTN,TTN-AS1c.98507T>A (p.Val32836Glu)
c.79592T>A (p.Val26531Glu)
c.79391T>A (p.Val26464Glu)
c.79016T>A (p.Val26339Glu)
c.106211T>A (p.Val35404Glu)
c.101288T>A (p.Val33763Glu)
n.446+6768A>T
n.220-5328A>T
c.105308T>A (p.Val35103Glu)
c.79202T>A (p.Val26401Glu)
c.79061T>A (p.Val26354Glu)
c.105104T>A (p.Val35035Glu)
c.100502T>A (p.Val33501Glu)
c.100499T>A (p.Val33500Glu)
c.97541T>A (p.Val32514Glu)
c.79157T>A (p.Val26386Glu)
c.100652T>A (p.Val33551Glu)
c.100649T>A (p.Val33550Glu)
c.100082T>A (p.Val33361Glu)
c.97424T>A (p.Val32475Glu)
c.97343T>A (p.Val32448Glu)
c.79106T>A (p.Val26369Glu)
c.68960T>A (p.Val22987Glu)
 dbSNP
2g.178530405C>ACA349406602TTN,TTN-AS1c.98506G>T (p.Val32836Leu)
c.79591G>T (p.Val26531Leu)
c.79390G>T (p.Val26464Leu)
c.79015G>T (p.Val26339Leu)
c.106210G>T (p.Val35404Leu)
c.101287G>T (p.Val33763Leu)
n.446+6769C>A
n.220-5327C>A
c.105307G>T (p.Val35103Leu)
c.79201G>T (p.Val26401Leu)
c.79060G>T (p.Val26354Leu)
c.105103G>T (p.Val35035Leu)
c.100501G>T (p.Val33501Leu)
c.100498G>T (p.Val33500Leu)
c.97540G>T (p.Val32514Leu)
c.79156G>T (p.Val26386Leu)
c.100651G>T (p.Val33551Leu)
c.100648G>T (p.Val33550Leu)
c.100081G>T (p.Val33361Leu)
c.97423G>T (p.Val32475Leu)
c.97342G>T (p.Val32448Leu)
c.79105G>T (p.Val26369Leu)
c.68959G>T (p.Val22987Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178530405C=CA1310514603TTN,TTN-AS1c.98506G= (p.Val32836=)
c.79591G= (p.Val26531=)
c.79390G= (p.Val26464=)
c.79015G= (p.Val26339=)
c.106210G= (p.Val35404=)
c.101287G= (p.Val33763=)
n.446+6769C=
n.220-5327C=
c.105307G= (p.Val35103=)
c.79201G= (p.Val26401=)
c.79060G= (p.Val26354=)
c.105103G= (p.Val35035=)
c.100501G= (p.Val33501=)
c.100498G= (p.Val33500=)
c.97540G= (p.Val32514=)
c.79156G= (p.Val26386=)
c.100651G= (p.Val33551=)
c.100648G= (p.Val33550=)
c.100081G= (p.Val33361=)
c.97423G= (p.Val32475=)
c.97342G= (p.Val32448=)
c.79105G= (p.Val26369=)
c.68959G= (p.Val22987=)
2g.178530405C>GCA349406603TTN,TTN-AS1c.98506G>C (p.Val32836Leu)
c.79591G>C (p.Val26531Leu)
c.79390G>C (p.Val26464Leu)
c.79015G>C (p.Val26339Leu)
c.106210G>C (p.Val35404Leu)
c.101287G>C (p.Val33763Leu)
n.446+6769C>G
n.220-5327C>G
c.105307G>C (p.Val35103Leu)
c.79201G>C (p.Val26401Leu)
c.79060G>C (p.Val26354Leu)
c.105103G>C (p.Val35035Leu)
c.100501G>C (p.Val33501Leu)
c.100498G>C (p.Val33500Leu)
c.97540G>C (p.Val32514Leu)
c.79156G>C (p.Val26386Leu)
c.100651G>C (p.Val33551Leu)
c.100648G>C (p.Val33550Leu)
c.100081G>C (p.Val33361Leu)
c.97423G>C (p.Val32475Leu)
c.97342G>C (p.Val32448Leu)
c.79105G>C (p.Val26369Leu)
c.68959G>C (p.Val22987Leu)
2g.178530405C>TCA1985146TTN,TTN-AS1c.98506G>A (p.Val32836Ile)
c.79591G>A (p.Val26531Ile)
c.79390G>A (p.Val26464Ile)
c.79015G>A (p.Val26339Ile)
c.106210G>A (p.Val35404Ile)
c.101287G>A (p.Val33763Ile)
n.446+6769C>T
n.220-5327C>T
c.105307G>A (p.Val35103Ile)
c.79201G>A (p.Val26401Ile)
c.79060G>A (p.Val26354Ile)
c.105103G>A (p.Val35035Ile)
c.100501G>A (p.Val33501Ile)
c.100498G>A (p.Val33500Ile)
c.97540G>A (p.Val32514Ile)
c.79156G>A (p.Val26386Ile)
c.100651G>A (p.Val33551Ile)
c.100648G>A (p.Val33550Ile)
c.100081G>A (p.Val33361Ile)
c.97423G>A (p.Val32475Ile)
c.97342G>A (p.Val32448Ile)
c.79105G>A (p.Val26369Ile)
c.68959G>A (p.Val22987Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530406T>ACA430235288TTN,TTN-AS1c.98505A>T (p.Thr32835=)
c.79590A>T (p.Thr26530=)
c.79389A>T (p.Thr26463=)
c.79014A>T (p.Thr26338=)
c.106209A>T (p.Thr35403=)
c.101286A>T (p.Thr33762=)
n.446+6770T>A
n.220-5326T>A
c.105306A>T (p.Thr35102=)
c.79200A>T (p.Thr26400=)
c.79059A>T (p.Thr26353=)
c.105102A>T (p.Thr35034=)
c.100500A>T (p.Thr33500=)
c.100497A>T (p.Thr33499=)
c.97539A>T (p.Thr32513=)
c.79155A>T (p.Thr26385=)
c.100650A>T (p.Thr33550=)
c.100647A>T (p.Thr33549=)
c.100080A>T (p.Thr33360=)
c.97422A>T (p.Thr32474=)
c.97341A>T (p.Thr32447=)
c.79104A>T (p.Thr26368=)
c.68958A>T (p.Thr22986=)
2g.178530406T>CCA430235290TTN,TTN-AS1c.98505A>G (p.Thr32835=)
c.79590A>G (p.Thr26530=)
c.79389A>G (p.Thr26463=)
c.79014A>G (p.Thr26338=)
c.106209A>G (p.Thr35403=)
c.101286A>G (p.Thr33762=)
n.446+6770T>C
n.220-5326T>C
c.105306A>G (p.Thr35102=)
c.79200A>G (p.Thr26400=)
c.79059A>G (p.Thr26353=)
c.105102A>G (p.Thr35034=)
c.100500A>G (p.Thr33500=)
c.100497A>G (p.Thr33499=)
c.97539A>G (p.Thr32513=)
c.79155A>G (p.Thr26385=)
c.100650A>G (p.Thr33550=)
c.100647A>G (p.Thr33549=)
c.100080A>G (p.Thr33360=)
c.97422A>G (p.Thr32474=)
c.97341A>G (p.Thr32447=)
c.79104A>G (p.Thr26368=)
c.68958A>G (p.Thr22986=)
 gnomAD v4
2g.178530406T>GCA430235291TTN,TTN-AS1c.98505A>C (p.Thr32835=)
c.79590A>C (p.Thr26530=)
c.79389A>C (p.Thr26463=)
c.79014A>C (p.Thr26338=)
c.106209A>C (p.Thr35403=)
c.101286A>C (p.Thr33762=)
n.446+6770T>G
n.220-5326T>G
c.105306A>C (p.Thr35102=)
c.79200A>C (p.Thr26400=)
c.79059A>C (p.Thr26353=)
c.105102A>C (p.Thr35034=)
c.100500A>C (p.Thr33500=)
c.100497A>C (p.Thr33499=)
c.97539A>C (p.Thr32513=)
c.79155A>C (p.Thr26385=)
c.100650A>C (p.Thr33550=)
c.100647A>C (p.Thr33549=)
c.100080A>C (p.Thr33360=)
c.97422A>C (p.Thr32474=)
c.97341A>C (p.Thr32447=)
c.79104A>C (p.Thr26368=)
c.68958A>C (p.Thr22986=)
2g.178530406dupCA2586970736TTN,TTN-AS1c.98505dup (p.Val32836SerfsTer6)
c.79590dup (p.Val26531SerfsTer6)
c.79389dup (p.Val26464SerfsTer6)
c.79014dup (p.Val26339SerfsTer6)
c.106209dup (p.Val35404SerfsTer6)
c.101286dup (p.Val33763SerfsTer6)
n.446+6770dup
n.220-5326dup
c.105306dup (p.Val35103SerfsTer6)
c.79200dup (p.Val26401SerfsTer6)
c.79059dup (p.Val26354SerfsTer6)
c.105102dup (p.Val35035SerfsTer6)
c.100500dup (p.Val33501SerfsTer6)
c.100497dup (p.Val33500SerfsTer6)
c.97539dup (p.Val32514SerfsTer6)
c.79155dup (p.Val26386SerfsTer6)
c.100650dup (p.Val33551SerfsTer6)
c.100647dup (p.Val33550SerfsTer6)
c.100080dup (p.Val33361SerfsTer6)
c.97422dup (p.Val32475SerfsTer6)
c.97341dup (p.Val32448SerfsTer6)
c.79104dup (p.Val26369SerfsTer6)
c.68958dup (p.Val22987SerfsTer6)
2g.178530407G>ACA349406604TTN,TTN-AS1c.98504C>T (p.Thr32835Ile)
c.79589C>T (p.Thr26530Ile)
c.79388C>T (p.Thr26463Ile)
c.79013C>T (p.Thr26338Ile)
c.106208C>T (p.Thr35403Ile)
c.101285C>T (p.Thr33762Ile)
n.446+6771G>A
n.220-5325G>A
c.105305C>T (p.Thr35102Ile)
c.79199C>T (p.Thr26400Ile)
c.79058C>T (p.Thr26353Ile)
c.105101C>T (p.Thr35034Ile)
c.100499C>T (p.Thr33500Ile)
c.100496C>T (p.Thr33499Ile)
c.97538C>T (p.Thr32513Ile)
c.79154C>T (p.Thr26385Ile)
c.100649C>T (p.Thr33550Ile)
c.100646C>T (p.Thr33549Ile)
c.100079C>T (p.Thr33360Ile)
c.97421C>T (p.Thr32474Ile)
c.97340C>T (p.Thr32447Ile)
c.79103C>T (p.Thr26368Ile)
c.68957C>T (p.Thr22986Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530407G>CCA349406605TTN,TTN-AS1c.98504C>G (p.Thr32835Arg)
c.79589C>G (p.Thr26530Arg)
c.79388C>G (p.Thr26463Arg)
c.79013C>G (p.Thr26338Arg)
c.106208C>G (p.Thr35403Arg)
c.101285C>G (p.Thr33762Arg)
n.446+6771G>C
n.220-5325G>C
c.105305C>G (p.Thr35102Arg)
c.79199C>G (p.Thr26400Arg)
c.79058C>G (p.Thr26353Arg)
c.105101C>G (p.Thr35034Arg)
c.100499C>G (p.Thr33500Arg)
c.100496C>G (p.Thr33499Arg)
c.97538C>G (p.Thr32513Arg)
c.79154C>G (p.Thr26385Arg)
c.100649C>G (p.Thr33550Arg)
c.100646C>G (p.Thr33549Arg)
c.100079C>G (p.Thr33360Arg)
c.97421C>G (p.Thr32474Arg)
c.97340C>G (p.Thr32447Arg)
c.79103C>G (p.Thr26368Arg)
c.68957C>G (p.Thr22986Arg)
2g.178530407G=CA1310514604TTN,TTN-AS1c.98504C= (p.Thr32835=)
c.79589C= (p.Thr26530=)
c.79388C= (p.Thr26463=)
c.79013C= (p.Thr26338=)
c.106208C= (p.Thr35403=)
c.101285C= (p.Thr33762=)
n.446+6771G=
n.220-5325G=
c.105305C= (p.Thr35102=)
c.79199C= (p.Thr26400=)
c.79058C= (p.Thr26353=)
c.105101C= (p.Thr35034=)
c.100499C= (p.Thr33500=)
c.100496C= (p.Thr33499=)
c.97538C= (p.Thr32513=)
c.79154C= (p.Thr26385=)
c.100649C= (p.Thr33550=)
c.100646C= (p.Thr33549=)
c.100079C= (p.Thr33360=)
c.97421C= (p.Thr32474=)
c.97340C= (p.Thr32447=)
c.79103C= (p.Thr26368=)
c.68957C= (p.Thr22986=)
2g.178530407G>TCA349406606TTN,TTN-AS1c.98504C>A (p.Thr32835Lys)
c.79589C>A (p.Thr26530Lys)
c.79388C>A (p.Thr26463Lys)
c.79013C>A (p.Thr26338Lys)
c.106208C>A (p.Thr35403Lys)
c.101285C>A (p.Thr33762Lys)
n.446+6771G>T
n.220-5325G>T
c.105305C>A (p.Thr35102Lys)
c.79199C>A (p.Thr26400Lys)
c.79058C>A (p.Thr26353Lys)
c.105101C>A (p.Thr35034Lys)
c.100499C>A (p.Thr33500Lys)
c.100496C>A (p.Thr33499Lys)
c.97538C>A (p.Thr32513Lys)
c.79154C>A (p.Thr26385Lys)
c.100649C>A (p.Thr33550Lys)
c.100646C>A (p.Thr33549Lys)
c.100079C>A (p.Thr33360Lys)
c.97421C>A (p.Thr32474Lys)
c.97340C>A (p.Thr32447Lys)
c.79103C>A (p.Thr26368Lys)
c.68957C>A (p.Thr22986Lys)
2g.178530408T>ACA349406609TTN,TTN-AS1c.98503A>T (p.Thr32835Ser)
c.79588A>T (p.Thr26530Ser)
c.79387A>T (p.Thr26463Ser)
c.79012A>T (p.Thr26338Ser)
c.106207A>T (p.Thr35403Ser)
c.101284A>T (p.Thr33762Ser)
n.446+6772T>A
n.220-5324T>A
c.105304A>T (p.Thr35102Ser)
c.79198A>T (p.Thr26400Ser)
c.79057A>T (p.Thr26353Ser)
c.105100A>T (p.Thr35034Ser)
c.100498A>T (p.Thr33500Ser)
c.100495A>T (p.Thr33499Ser)
c.97537A>T (p.Thr32513Ser)
c.79153A>T (p.Thr26385Ser)
c.100648A>T (p.Thr33550Ser)
c.100645A>T (p.Thr33549Ser)
c.100078A>T (p.Thr33360Ser)
c.97420A>T (p.Thr32474Ser)
c.97339A>T (p.Thr32447Ser)
c.79102A>T (p.Thr26368Ser)
c.68956A>T (p.Thr22986Ser)
2g.178530408T>CCA349406611TTN,TTN-AS1c.98503A>G (p.Thr32835Ala)
c.79588A>G (p.Thr26530Ala)
c.79387A>G (p.Thr26463Ala)
c.79012A>G (p.Thr26338Ala)
c.106207A>G (p.Thr35403Ala)
c.101284A>G (p.Thr33762Ala)
n.446+6772T>C
n.220-5324T>C
c.105304A>G (p.Thr35102Ala)
c.79198A>G (p.Thr26400Ala)
c.79057A>G (p.Thr26353Ala)
c.105100A>G (p.Thr35034Ala)
c.100498A>G (p.Thr33500Ala)
c.100495A>G (p.Thr33499Ala)
c.97537A>G (p.Thr32513Ala)
c.79153A>G (p.Thr26385Ala)
c.100648A>G (p.Thr33550Ala)
c.100645A>G (p.Thr33549Ala)
c.100078A>G (p.Thr33360Ala)
c.97420A>G (p.Thr32474Ala)
c.97339A>G (p.Thr32447Ala)
c.79102A>G (p.Thr26368Ala)
c.68956A>G (p.Thr22986Ala)
2g.178530408T>GCA349406613TTN,TTN-AS1c.98503A>C (p.Thr32835Pro)
c.79588A>C (p.Thr26530Pro)
c.79387A>C (p.Thr26463Pro)
c.79012A>C (p.Thr26338Pro)
c.106207A>C (p.Thr35403Pro)
c.101284A>C (p.Thr33762Pro)
n.446+6772T>G
n.220-5324T>G
c.105304A>C (p.Thr35102Pro)
c.79198A>C (p.Thr26400Pro)
c.79057A>C (p.Thr26353Pro)
c.105100A>C (p.Thr35034Pro)
c.100498A>C (p.Thr33500Pro)
c.100495A>C (p.Thr33499Pro)
c.97537A>C (p.Thr32513Pro)
c.79153A>C (p.Thr26385Pro)
c.100648A>C (p.Thr33550Pro)
c.100645A>C (p.Thr33549Pro)
c.100078A>C (p.Thr33360Pro)
c.97420A>C (p.Thr32474Pro)
c.97339A>C (p.Thr32447Pro)
c.79102A>C (p.Thr26368Pro)
c.68956A>C (p.Thr22986Pro)
 gnomAD v4
2g.178530409T>ACA430235293TTN,TTN-AS1c.98502A>T (p.Ser32834=)
c.79587A>T (p.Ser26529=)
c.79386A>T (p.Ser26462=)
c.79011A>T (p.Ser26337=)
c.106206A>T (p.Ser35402=)
c.101283A>T (p.Ser33761=)
n.446+6773T>A
n.220-5323T>A
c.105303A>T (p.Ser35101=)
c.79197A>T (p.Ser26399=)
c.79056A>T (p.Ser26352=)
c.105099A>T (p.Ser35033=)
c.100497A>T (p.Ser33499=)
c.100494A>T (p.Ser33498=)
c.97536A>T (p.Ser32512=)
c.79152A>T (p.Ser26384=)
c.100647A>T (p.Ser33549=)
c.100644A>T (p.Ser33548=)
c.100077A>T (p.Ser33359=)
c.97419A>T (p.Ser32473=)
c.97338A>T (p.Ser32446=)
c.79101A>T (p.Ser26367=)
c.68955A>T (p.Ser22985=)
2g.178530409T>CCA430235294TTN,TTN-AS1c.98502A>G (p.Ser32834=)
c.79587A>G (p.Ser26529=)
c.79386A>G (p.Ser26462=)
c.79011A>G (p.Ser26337=)
c.106206A>G (p.Ser35402=)
c.101283A>G (p.Ser33761=)
n.446+6773T>C
n.220-5323T>C
c.105303A>G (p.Ser35101=)
c.79197A>G (p.Ser26399=)
c.79056A>G (p.Ser26352=)
c.105099A>G (p.Ser35033=)
c.100497A>G (p.Ser33499=)
c.100494A>G (p.Ser33498=)
c.97536A>G (p.Ser32512=)
c.79152A>G (p.Ser26384=)
c.100647A>G (p.Ser33549=)
c.100644A>G (p.Ser33548=)
c.100077A>G (p.Ser33359=)
c.97419A>G (p.Ser32473=)
c.97338A>G (p.Ser32446=)
c.79101A>G (p.Ser26367=)
c.68955A>G (p.Ser22985=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530409T>GCA430235295TTN,TTN-AS1c.98502A>C (p.Ser32834=)
c.79587A>C (p.Ser26529=)
c.79386A>C (p.Ser26462=)
c.79011A>C (p.Ser26337=)
c.106206A>C (p.Ser35402=)
c.101283A>C (p.Ser33761=)
n.446+6773T>G
n.220-5323T>G
c.105303A>C (p.Ser35101=)
c.79197A>C (p.Ser26399=)
c.79056A>C (p.Ser26352=)
c.105099A>C (p.Ser35033=)
c.100497A>C (p.Ser33499=)
c.100494A>C (p.Ser33498=)
c.97536A>C (p.Ser32512=)
c.79152A>C (p.Ser26384=)
c.100647A>C (p.Ser33549=)
c.100644A>C (p.Ser33548=)
c.100077A>C (p.Ser33359=)
c.97419A>C (p.Ser32473=)
c.97338A>C (p.Ser32446=)
c.79101A>C (p.Ser26367=)
c.68955A>C (p.Ser22985=)
 gnomAD v4
2g.178530409T=CA1310514606TTN,TTN-AS1c.98502A= (p.Ser32834=)
c.79587A= (p.Ser26529=)
c.79386A= (p.Ser26462=)
c.79011A= (p.Ser26337=)
c.106206A= (p.Ser35402=)
c.101283A= (p.Ser33761=)
n.446+6773T=
n.220-5323T=
c.105303A= (p.Ser35101=)
c.79197A= (p.Ser26399=)
c.79056A= (p.Ser26352=)
c.105099A= (p.Ser35033=)
c.100497A= (p.Ser33499=)
c.100494A= (p.Ser33498=)
c.97536A= (p.Ser32512=)
c.79152A= (p.Ser26384=)
c.100647A= (p.Ser33549=)
c.100644A= (p.Ser33548=)
c.100077A= (p.Ser33359=)
c.97419A= (p.Ser32473=)
c.97338A= (p.Ser32446=)
c.79101A= (p.Ser26367=)
c.68955A= (p.Ser22985=)
2g.178530410G>ACA349406615TTN,TTN-AS1c.98501C>T (p.Ser32834Leu)
c.79586C>T (p.Ser26529Leu)
c.79385C>T (p.Ser26462Leu)
c.79010C>T (p.Ser26337Leu)
c.106205C>T (p.Ser35402Leu)
c.101282C>T (p.Ser33761Leu)
n.446+6774G>A
n.220-5322G>A
c.105302C>T (p.Ser35101Leu)
c.79196C>T (p.Ser26399Leu)
c.79055C>T (p.Ser26352Leu)
c.105098C>T (p.Ser35033Leu)
c.100496C>T (p.Ser33499Leu)
c.100493C>T (p.Ser33498Leu)
c.97535C>T (p.Ser32512Leu)
c.79151C>T (p.Ser26384Leu)
c.100646C>T (p.Ser33549Leu)
c.100643C>T (p.Ser33548Leu)
c.100076C>T (p.Ser33359Leu)
c.97418C>T (p.Ser32473Leu)
c.97337C>T (p.Ser32446Leu)
c.79100C>T (p.Ser26367Leu)
c.68954C>T (p.Ser22985Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178530410G>CCA349406617TTN,TTN-AS1c.98501C>G (p.Ser32834Ter)
c.79586C>G (p.Ser26529Ter)
c.79385C>G (p.Ser26462Ter)
c.79010C>G (p.Ser26337Ter)
c.106205C>G (p.Ser35402Ter)
c.101282C>G (p.Ser33761Ter)
n.446+6774G>C
n.220-5322G>C
c.105302C>G (p.Ser35101Ter)
c.79196C>G (p.Ser26399Ter)
c.79055C>G (p.Ser26352Ter)
c.105098C>G (p.Ser35033Ter)
c.100496C>G (p.Ser33499Ter)
c.100493C>G (p.Ser33498Ter)
c.97535C>G (p.Ser32512Ter)
c.79151C>G (p.Ser26384Ter)
c.100646C>G (p.Ser33549Ter)
c.100643C>G (p.Ser33548Ter)
c.100076C>G (p.Ser33359Ter)
c.97418C>G (p.Ser32473Ter)
c.97337C>G (p.Ser32446Ter)
c.79100C>G (p.Ser26367Ter)
c.68954C>G (p.Ser22985Ter)
2g.178530410G>TCA349406619TTN,TTN-AS1c.98501C>A (p.Ser32834Ter)
c.79586C>A (p.Ser26529Ter)
c.79385C>A (p.Ser26462Ter)
c.79010C>A (p.Ser26337Ter)
c.106205C>A (p.Ser35402Ter)
c.101282C>A (p.Ser33761Ter)
n.446+6774G>T
n.220-5322G>T
c.105302C>A (p.Ser35101Ter)
c.79196C>A (p.Ser26399Ter)
c.79055C>A (p.Ser26352Ter)
c.105098C>A (p.Ser35033Ter)
c.100496C>A (p.Ser33499Ter)
c.100493C>A (p.Ser33498Ter)
c.97535C>A (p.Ser32512Ter)
c.79151C>A (p.Ser26384Ter)
c.100646C>A (p.Ser33549Ter)
c.100643C>A (p.Ser33548Ter)
c.100076C>A (p.Ser33359Ter)
c.97418C>A (p.Ser32473Ter)
c.97337C>A (p.Ser32446Ter)
c.79100C>A (p.Ser26367Ter)
c.68954C>A (p.Ser22985Ter)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530411A>CCA349406621TTN,TTN-AS1c.98500T>G (p.Ser32834Ala)
c.79585T>G (p.Ser26529Ala)
c.79384T>G (p.Ser26462Ala)
c.79009T>G (p.Ser26337Ala)
c.106204T>G (p.Ser35402Ala)
c.101281T>G (p.Ser33761Ala)
n.446+6775A>C
n.220-5321A>C
c.105301T>G (p.Ser35101Ala)
c.79195T>G (p.Ser26399Ala)
c.79054T>G (p.Ser26352Ala)
c.105097T>G (p.Ser35033Ala)
c.100495T>G (p.Ser33499Ala)
c.100492T>G (p.Ser33498Ala)
c.97534T>G (p.Ser32512Ala)
c.79150T>G (p.Ser26384Ala)
c.100645T>G (p.Ser33549Ala)
c.100642T>G (p.Ser33548Ala)
c.100075T>G (p.Ser33359Ala)
c.97417T>G (p.Ser32473Ala)
c.97336T>G (p.Ser32446Ala)
c.79099T>G (p.Ser26367Ala)
c.68953T>G (p.Ser22985Ala)
2g.178530411A>GCA349406622TTN,TTN-AS1c.98500T>C (p.Ser32834Pro)
c.79585T>C (p.Ser26529Pro)
c.79384T>C (p.Ser26462Pro)
c.79009T>C (p.Ser26337Pro)
c.106204T>C (p.Ser35402Pro)
c.101281T>C (p.Ser33761Pro)
n.446+6775A>G
n.220-5321A>G
c.105301T>C (p.Ser35101Pro)
c.79195T>C (p.Ser26399Pro)
c.79054T>C (p.Ser26352Pro)
c.105097T>C (p.Ser35033Pro)
c.100495T>C (p.Ser33499Pro)
c.100492T>C (p.Ser33498Pro)
c.97534T>C (p.Ser32512Pro)
c.79150T>C (p.Ser26384Pro)
c.100645T>C (p.Ser33549Pro)
c.100642T>C (p.Ser33548Pro)
c.100075T>C (p.Ser33359Pro)
c.97417T>C (p.Ser32473Pro)
c.97336T>C (p.Ser32446Pro)
c.79099T>C (p.Ser26367Pro)
c.68953T>C (p.Ser22985Pro)
2g.178530411A>TCA349406624TTN,TTN-AS1c.98500T>A (p.Ser32834Thr)
c.79585T>A (p.Ser26529Thr)
c.79384T>A (p.Ser26462Thr)
c.79009T>A (p.Ser26337Thr)
c.106204T>A (p.Ser35402Thr)
c.101281T>A (p.Ser33761Thr)
n.446+6775A>T
n.220-5321A>T
c.105301T>A (p.Ser35101Thr)
c.79195T>A (p.Ser26399Thr)
c.79054T>A (p.Ser26352Thr)
c.105097T>A (p.Ser35033Thr)
c.100495T>A (p.Ser33499Thr)
c.100492T>A (p.Ser33498Thr)
c.97534T>A (p.Ser32512Thr)
c.79150T>A (p.Ser26384Thr)
c.100645T>A (p.Ser33549Thr)
c.100642T>A (p.Ser33548Thr)
c.100075T>A (p.Ser33359Thr)
c.97417T>A (p.Ser32473Thr)
c.97336T>A (p.Ser32446Thr)
c.79099T>A (p.Ser26367Thr)
c.68953T>A (p.Ser22985Thr)
2g.178530412C>ACA349406630TTN,TTN-AS1c.98499G>T (p.Glu32833Asp)
c.79584G>T (p.Glu26528Asp)
c.79383G>T (p.Glu26461Asp)
c.79008G>T (p.Glu26336Asp)
c.106203G>T (p.Glu35401Asp)
c.101280G>T (p.Glu33760Asp)
n.446+6776C>A
n.220-5320C>A
c.105300G>T (p.Glu35100Asp)
c.79194G>T (p.Glu26398Asp)
c.79053G>T (p.Glu26351Asp)
c.105096G>T (p.Glu35032Asp)
c.100494G>T (p.Glu33498Asp)
c.100491G>T (p.Glu33497Asp)
c.97533G>T (p.Glu32511Asp)
c.79149G>T (p.Glu26383Asp)
c.100644G>T (p.Glu33548Asp)
c.100641G>T (p.Glu33547Asp)
c.100074G>T (p.Glu33358Asp)
c.97416G>T (p.Glu32472Asp)
c.97335G>T (p.Glu32445Asp)
c.79098G>T (p.Glu26366Asp)
c.68952G>T (p.Glu22984Asp)
 gnomAD v4
2g.178530412C=CA1310514608TTN,TTN-AS1c.98499G= (p.Glu32833=)
c.79584G= (p.Glu26528=)
c.79383G= (p.Glu26461=)
c.79008G= (p.Glu26336=)
c.106203G= (p.Glu35401=)
c.101280G= (p.Glu33760=)
n.446+6776C=
n.220-5320C=
c.105300G= (p.Glu35100=)
c.79194G= (p.Glu26398=)
c.79053G= (p.Glu26351=)
c.105096G= (p.Glu35032=)
c.100494G= (p.Glu33498=)
c.100491G= (p.Glu33497=)
c.97533G= (p.Glu32511=)
c.79149G= (p.Glu26383=)
c.100644G= (p.Glu33548=)
c.100641G= (p.Glu33547=)
c.100074G= (p.Glu33358=)
c.97416G= (p.Glu32472=)
c.97335G= (p.Glu32445=)
c.79098G= (p.Glu26366=)
c.68952G= (p.Glu22984=)
2g.178530412C>GCA349406627TTN,TTN-AS1c.98499G>C (p.Glu32833Asp)
c.79584G>C (p.Glu26528Asp)
c.79383G>C (p.Glu26461Asp)
c.79008G>C (p.Glu26336Asp)
c.106203G>C (p.Glu35401Asp)
c.101280G>C (p.Glu33760Asp)
n.446+6776C>G
n.220-5320C>G
c.105300G>C (p.Glu35100Asp)
c.79194G>C (p.Glu26398Asp)
c.79053G>C (p.Glu26351Asp)
c.105096G>C (p.Glu35032Asp)
c.100494G>C (p.Glu33498Asp)
c.100491G>C (p.Glu33497Asp)
c.97533G>C (p.Glu32511Asp)
c.79149G>C (p.Glu26383Asp)
c.100644G>C (p.Glu33548Asp)
c.100641G>C (p.Glu33547Asp)
c.100074G>C (p.Glu33358Asp)
c.97416G>C (p.Glu32472Asp)
c.97335G>C (p.Glu32445Asp)
c.79098G>C (p.Glu26366Asp)
c.68952G>C (p.Glu22984Asp)
2g.178530412C>TCA1985147TTN,TTN-AS1c.98499G>A (p.Glu32833=)
c.79584G>A (p.Glu26528=)
c.79383G>A (p.Glu26461=)
c.79008G>A (p.Glu26336=)
c.106203G>A (p.Glu35401=)
c.101280G>A (p.Glu33760=)
n.446+6776C>T
n.220-5320C>T
c.105300G>A (p.Glu35100=)
c.79194G>A (p.Glu26398=)
c.79053G>A (p.Glu26351=)
c.105096G>A (p.Glu35032=)
c.100494G>A (p.Glu33498=)
c.100491G>A (p.Glu33497=)
c.97533G>A (p.Glu32511=)
c.79149G>A (p.Glu26383=)
c.100644G>A (p.Glu33548=)
c.100641G>A (p.Glu33547=)
c.100074G>A (p.Glu33358=)
c.97416G>A (p.Glu32472=)
c.97335G>A (p.Glu32445=)
c.79098G>A (p.Glu26366=)
c.68952G>A (p.Glu22984=)
 dbSNP ExAC
2g.178530413T>ACA349406632TTN,TTN-AS1c.98498A>T (p.Glu32833Val)
c.79583A>T (p.Glu26528Val)
c.79382A>T (p.Glu26461Val)
c.79007A>T (p.Glu26336Val)
c.106202A>T (p.Glu35401Val)
c.101279A>T (p.Glu33760Val)
n.446+6777T>A
n.220-5319T>A
c.105299A>T (p.Glu35100Val)
c.79193A>T (p.Glu26398Val)
c.79052A>T (p.Glu26351Val)
c.105095A>T (p.Glu35032Val)
c.100493A>T (p.Glu33498Val)
c.100490A>T (p.Glu33497Val)
c.97532A>T (p.Glu32511Val)
c.79148A>T (p.Glu26383Val)
c.100643A>T (p.Glu33548Val)
c.100640A>T (p.Glu33547Val)
c.100073A>T (p.Glu33358Val)
c.97415A>T (p.Glu32472Val)
c.97334A>T (p.Glu32445Val)
c.79097A>T (p.Glu26366Val)
c.68951A>T (p.Glu22984Val)
2g.178530413T>CCA349406634TTN,TTN-AS1c.98498A>G (p.Glu32833Gly)
c.79583A>G (p.Glu26528Gly)
c.79382A>G (p.Glu26461Gly)
c.79007A>G (p.Glu26336Gly)
c.106202A>G (p.Glu35401Gly)
c.101279A>G (p.Glu33760Gly)
n.446+6777T>C
n.220-5319T>C
c.105299A>G (p.Glu35100Gly)
c.79193A>G (p.Glu26398Gly)
c.79052A>G (p.Glu26351Gly)
c.105095A>G (p.Glu35032Gly)
c.100493A>G (p.Glu33498Gly)
c.100490A>G (p.Glu33497Gly)
c.97532A>G (p.Glu32511Gly)
c.79148A>G (p.Glu26383Gly)
c.100643A>G (p.Glu33548Gly)
c.100640A>G (p.Glu33547Gly)
c.100073A>G (p.Glu33358Gly)
c.97415A>G (p.Glu32472Gly)
c.97334A>G (p.Glu32445Gly)
c.79097A>G (p.Glu26366Gly)
c.68951A>G (p.Glu22984Gly)
 dbSNP
2g.178530413T>GCA349406636TTN,TTN-AS1c.98498A>C (p.Glu32833Ala)
c.79583A>C (p.Glu26528Ala)
c.79382A>C (p.Glu26461Ala)
c.79007A>C (p.Glu26336Ala)
c.106202A>C (p.Glu35401Ala)
c.101279A>C (p.Glu33760Ala)
n.446+6777T>G
n.220-5319T>G
c.105299A>C (p.Glu35100Ala)
c.79193A>C (p.Glu26398Ala)
c.79052A>C (p.Glu26351Ala)
c.105095A>C (p.Glu35032Ala)
c.100493A>C (p.Glu33498Ala)
c.100490A>C (p.Glu33497Ala)
c.97532A>C (p.Glu32511Ala)
c.79148A>C (p.Glu26383Ala)
c.100643A>C (p.Glu33548Ala)
c.100640A>C (p.Glu33547Ala)
c.100073A>C (p.Glu33358Ala)
c.97415A>C (p.Glu32472Ala)
c.97334A>C (p.Glu32445Ala)
c.79097A>C (p.Glu26366Ala)
c.68951A>C (p.Glu22984Ala)
 gnomAD v4
2g.178530413T=CA1310514609TTN,TTN-AS1c.98498A= (p.Glu32833=)
c.79583A= (p.Glu26528=)
c.79382A= (p.Glu26461=)
c.79007A= (p.Glu26336=)
c.106202A= (p.Glu35401=)
c.101279A= (p.Glu33760=)
n.446+6777T=
n.220-5319T=
c.105299A= (p.Glu35100=)
c.79193A= (p.Glu26398=)
c.79052A= (p.Glu26351=)
c.105095A= (p.Glu35032=)
c.100493A= (p.Glu33498=)
c.100490A= (p.Glu33497=)
c.97532A= (p.Glu32511=)
c.79148A= (p.Glu26383=)
c.100643A= (p.Glu33548=)
c.100640A= (p.Glu33547=)
c.100073A= (p.Glu33358=)
c.97415A= (p.Glu32472=)
c.97334A= (p.Glu32445=)
c.79097A= (p.Glu26366=)
c.68951A= (p.Glu22984=)
2g.178530414C>ACA349406639TTN,TTN-AS1c.98497G>T (p.Glu32833Ter)
c.79582G>T (p.Glu26528Ter)
c.79381G>T (p.Glu26461Ter)
c.79006G>T (p.Glu26336Ter)
c.106201G>T (p.Glu35401Ter)
c.101278G>T (p.Glu33760Ter)
n.446+6778C>A
n.220-5318C>A
c.105298G>T (p.Glu35100Ter)
c.79192G>T (p.Glu26398Ter)
c.79051G>T (p.Glu26351Ter)
c.105094G>T (p.Glu35032Ter)
c.100492G>T (p.Glu33498Ter)
c.100489G>T (p.Glu33497Ter)
c.97531G>T (p.Glu32511Ter)
c.79147G>T (p.Glu26383Ter)
c.100642G>T (p.Glu33548Ter)
c.100639G>T (p.Glu33547Ter)
c.100072G>T (p.Glu33358Ter)
c.97414G>T (p.Glu32472Ter)
c.97333G>T (p.Glu32445Ter)
c.79096G>T (p.Glu26366Ter)
c.68950G>T (p.Glu22984Ter)
2g.178530414C>GCA349406641TTN,TTN-AS1c.98497G>C (p.Glu32833Gln)
c.79582G>C (p.Glu26528Gln)
c.79381G>C (p.Glu26461Gln)
c.79006G>C (p.Glu26336Gln)
c.106201G>C (p.Glu35401Gln)
c.101278G>C (p.Glu33760Gln)
n.446+6778C>G
n.220-5318C>G
c.105298G>C (p.Glu35100Gln)
c.79192G>C (p.Glu26398Gln)
c.79051G>C (p.Glu26351Gln)
c.105094G>C (p.Glu35032Gln)
c.100492G>C (p.Glu33498Gln)
c.100489G>C (p.Glu33497Gln)
c.97531G>C (p.Glu32511Gln)
c.79147G>C (p.Glu26383Gln)
c.100642G>C (p.Glu33548Gln)
c.100639G>C (p.Glu33547Gln)
c.100072G>C (p.Glu33358Gln)
c.97414G>C (p.Glu32472Gln)
c.97333G>C (p.Glu32445Gln)
c.79096G>C (p.Glu26366Gln)
c.68950G>C (p.Glu22984Gln)
2g.178530414C>TCA349406643TTN,TTN-AS1c.98497G>A (p.Glu32833Lys)
c.79582G>A (p.Glu26528Lys)
c.79381G>A (p.Glu26461Lys)
c.79006G>A (p.Glu26336Lys)
c.106201G>A (p.Glu35401Lys)
c.101278G>A (p.Glu33760Lys)
n.446+6778C>T
n.220-5318C>T
c.105298G>A (p.Glu35100Lys)
c.79192G>A (p.Glu26398Lys)
c.79051G>A (p.Glu26351Lys)
c.105094G>A (p.Glu35032Lys)
c.100492G>A (p.Glu33498Lys)
c.100489G>A (p.Glu33497Lys)
c.97531G>A (p.Glu32511Lys)
c.79147G>A (p.Glu26383Lys)
c.100642G>A (p.Glu33548Lys)
c.100639G>A (p.Glu33547Lys)
c.100072G>A (p.Glu33358Lys)
c.97414G>A (p.Glu32472Lys)
c.97333G>A (p.Glu32445Lys)
c.79096G>A (p.Glu26366Lys)
c.68950G>A (p.Glu22984Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530415delCA2662125758TTN,TTN-AS1c.98496del (p.Glu32833SerfsTer4)
c.79581del (p.Glu26528SerfsTer4)
c.79380del (p.Glu26461SerfsTer4)
c.79005del (p.Glu26336SerfsTer4)
c.106200del (p.Glu35401SerfsTer4)
c.101277del (p.Glu33760SerfsTer4)
n.446+6779del
n.220-5317del
c.105297del (p.Glu35100SerfsTer4)
c.79191del (p.Glu26398SerfsTer4)
c.79050del (p.Glu26351SerfsTer4)
c.105093del (p.Glu35032SerfsTer4)
c.100491del (p.Glu33498SerfsTer4)
c.100488del (p.Glu33497SerfsTer4)
c.97530del (p.Glu32511SerfsTer4)
c.79146del (p.Glu26383SerfsTer4)
c.100641del (p.Glu33548SerfsTer4)
c.100638del (p.Glu33547SerfsTer4)
c.100071del (p.Glu33358SerfsTer4)
c.97413del (p.Glu32472SerfsTer4)
c.97332del (p.Glu32445SerfsTer4)
c.79095del (p.Glu26366SerfsTer4)
c.68949del (p.Glu22984SerfsTer4)
 gnomAD v4
2g.178530415A=CA1310514611TTN,TTN-AS1c.98496T= (p.Thr32832=)
c.79581T= (p.Thr26527=)
c.79380T= (p.Thr26460=)
c.79005T= (p.Thr26335=)
c.106200T= (p.Thr35400=)
c.101277T= (p.Thr33759=)
n.446+6779A=
n.220-5317A=
c.105297T= (p.Thr35099=)
c.79191T= (p.Thr26397=)
c.79050T= (p.Thr26350=)
c.105093T= (p.Thr35031=)
c.100491T= (p.Thr33497=)
c.100488T= (p.Thr33496=)
c.97530T= (p.Thr32510=)
c.79146T= (p.Thr26382=)
c.100641T= (p.Thr33547=)
c.100638T= (p.Thr33546=)
c.100071T= (p.Thr33357=)
c.97413T= (p.Thr32471=)
c.97332T= (p.Thr32444=)
c.79095T= (p.Thr26365=)
c.68949T= (p.Thr22983=)
2g.178530415A>CCA430235311TTN,TTN-AS1c.98496T>G (p.Thr32832=)
c.79581T>G (p.Thr26527=)
c.79380T>G (p.Thr26460=)
c.79005T>G (p.Thr26335=)
c.106200T>G (p.Thr35400=)
c.101277T>G (p.Thr33759=)
n.446+6779A>C
n.220-5317A>C
c.105297T>G (p.Thr35099=)
c.79191T>G (p.Thr26397=)
c.79050T>G (p.Thr26350=)
c.105093T>G (p.Thr35031=)
c.100491T>G (p.Thr33497=)
c.100488T>G (p.Thr33496=)
c.97530T>G (p.Thr32510=)
c.79146T>G (p.Thr26382=)
c.100641T>G (p.Thr33547=)
c.100638T>G (p.Thr33546=)
c.100071T>G (p.Thr33357=)
c.97413T>G (p.Thr32471=)
c.97332T>G (p.Thr32444=)
c.79095T>G (p.Thr26365=)
c.68949T>G (p.Thr22983=)
2g.178530415A>GCA1985148TTN,TTN-AS1c.98496T>C (p.Thr32832=)
c.79581T>C (p.Thr26527=)
c.79380T>C (p.Thr26460=)
c.79005T>C (p.Thr26335=)
c.106200T>C (p.Thr35400=)
c.101277T>C (p.Thr33759=)
n.446+6779A>G
n.220-5317A>G
c.105297T>C (p.Thr35099=)
c.79191T>C (p.Thr26397=)
c.79050T>C (p.Thr26350=)
c.105093T>C (p.Thr35031=)
c.100491T>C (p.Thr33497=)
c.100488T>C (p.Thr33496=)
c.97530T>C (p.Thr32510=)
c.79146T>C (p.Thr26382=)
c.100641T>C (p.Thr33547=)
c.100638T>C (p.Thr33546=)
c.100071T>C (p.Thr33357=)
c.97413T>C (p.Thr32471=)
c.97332T>C (p.Thr32444=)
c.79095T>C (p.Thr26365=)
c.68949T>C (p.Thr22983=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530415A>TCA430235312TTN,TTN-AS1c.98496T>A (p.Thr32832=)
c.79581T>A (p.Thr26527=)
c.79380T>A (p.Thr26460=)
c.79005T>A (p.Thr26335=)
c.106200T>A (p.Thr35400=)
c.101277T>A (p.Thr33759=)
n.446+6779A>T
n.220-5317A>T
c.105297T>A (p.Thr35099=)
c.79191T>A (p.Thr26397=)
c.79050T>A (p.Thr26350=)
c.105093T>A (p.Thr35031=)
c.100491T>A (p.Thr33497=)
c.100488T>A (p.Thr33496=)
c.97530T>A (p.Thr32510=)
c.79146T>A (p.Thr26382=)
c.100641T>A (p.Thr33547=)
c.100638T>A (p.Thr33546=)
c.100071T>A (p.Thr33357=)
c.97413T>A (p.Thr32471=)
c.97332T>A (p.Thr32444=)
c.79095T>A (p.Thr26365=)
c.68949T>A (p.Thr22983=)
2g.178530416G>ACA349406647TTN,TTN-AS1c.98495C>T (p.Thr32832Ile)
c.79580C>T (p.Thr26527Ile)
c.79379C>T (p.Thr26460Ile)
c.79004C>T (p.Thr26335Ile)
c.106199C>T (p.Thr35400Ile)
c.101276C>T (p.Thr33759Ile)
n.446+6780G>A
n.220-5316G>A
c.105296C>T (p.Thr35099Ile)
c.79190C>T (p.Thr26397Ile)
c.79049C>T (p.Thr26350Ile)
c.105092C>T (p.Thr35031Ile)
c.100490C>T (p.Thr33497Ile)
c.100487C>T (p.Thr33496Ile)
c.97529C>T (p.Thr32510Ile)
c.79145C>T (p.Thr26382Ile)
c.100640C>T (p.Thr33547Ile)
c.100637C>T (p.Thr33546Ile)
c.100070C>T (p.Thr33357Ile)
c.97412C>T (p.Thr32471Ile)
c.97331C>T (p.Thr32444Ile)
c.79094C>T (p.Thr26365Ile)
c.68948C>T (p.Thr22983Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178530416G>CCA349406649TTN,TTN-AS1c.98495C>G (p.Thr32832Ser)
c.79580C>G (p.Thr26527Ser)
c.79379C>G (p.Thr26460Ser)
c.79004C>G (p.Thr26335Ser)
c.106199C>G (p.Thr35400Ser)
c.101276C>G (p.Thr33759Ser)
n.446+6780G>C
n.220-5316G>C
c.105296C>G (p.Thr35099Ser)
c.79190C>G (p.Thr26397Ser)
c.79049C>G (p.Thr26350Ser)
c.105092C>G (p.Thr35031Ser)
c.100490C>G (p.Thr33497Ser)
c.100487C>G (p.Thr33496Ser)
c.97529C>G (p.Thr32510Ser)
c.79145C>G (p.Thr26382Ser)
c.100640C>G (p.Thr33547Ser)
c.100637C>G (p.Thr33546Ser)
c.100070C>G (p.Thr33357Ser)
c.97412C>G (p.Thr32471Ser)
c.97331C>G (p.Thr32444Ser)
c.79094C>G (p.Thr26365Ser)
c.68948C>G (p.Thr22983Ser)
 ClinVar dbSNP
2g.178530416G=CA1310514614TTN,TTN-AS1c.98495C= (p.Thr32832=)
c.79580C= (p.Thr26527=)
c.79379C= (p.Thr26460=)
c.79004C= (p.Thr26335=)
c.106199C= (p.Thr35400=)
c.101276C= (p.Thr33759=)
n.446+6780G=
n.220-5316G=
c.105296C= (p.Thr35099=)
c.79190C= (p.Thr26397=)
c.79049C= (p.Thr26350=)
c.105092C= (p.Thr35031=)
c.100490C= (p.Thr33497=)
c.100487C= (p.Thr33496=)
c.97529C= (p.Thr32510=)
c.79145C= (p.Thr26382=)
c.100640C= (p.Thr33547=)
c.100637C= (p.Thr33546=)
c.100070C= (p.Thr33357=)
c.97412C= (p.Thr32471=)
c.97331C= (p.Thr32444=)
c.79094C= (p.Thr26365=)
c.68948C= (p.Thr22983=)
2g.178530416G>TCA60953350TTN,TTN-AS1c.98495C>A (p.Thr32832Asn)
c.79580C>A (p.Thr26527Asn)
c.79379C>A (p.Thr26460Asn)
c.79004C>A (p.Thr26335Asn)
c.106199C>A (p.Thr35400Asn)
c.101276C>A (p.Thr33759Asn)
n.446+6780G>T
n.220-5316G>T
c.105296C>A (p.Thr35099Asn)
c.79190C>A (p.Thr26397Asn)
c.79049C>A (p.Thr26350Asn)
c.105092C>A (p.Thr35031Asn)
c.100490C>A (p.Thr33497Asn)
c.100487C>A (p.Thr33496Asn)
c.97529C>A (p.Thr32510Asn)
c.79145C>A (p.Thr26382Asn)
c.100640C>A (p.Thr33547Asn)
c.100637C>A (p.Thr33546Asn)
c.100070C>A (p.Thr33357Asn)
c.97412C>A (p.Thr32471Asn)
c.97331C>A (p.Thr32444Asn)
c.79094C>A (p.Thr26365Asn)
c.68948C>A (p.Thr22983Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178530417T>ACA349406656TTN,TTN-AS1c.98494A>T (p.Thr32832Ser)
c.79579A>T (p.Thr26527Ser)
c.79378A>T (p.Thr26460Ser)
c.79003A>T (p.Thr26335Ser)
c.106198A>T (p.Thr35400Ser)
c.101275A>T (p.Thr33759Ser)
n.446+6781T>A
n.220-5315T>A
c.105295A>T (p.Thr35099Ser)
c.79189A>T (p.Thr26397Ser)
c.79048A>T (p.Thr26350Ser)
c.105091A>T (p.Thr35031Ser)
c.100489A>T (p.Thr33497Ser)
c.100486A>T (p.Thr33496Ser)
c.97528A>T (p.Thr32510Ser)
c.79144A>T (p.Thr26382Ser)
c.100639A>T (p.Thr33547Ser)
c.100636A>T (p.Thr33546Ser)
c.100069A>T (p.Thr33357Ser)
c.97411A>T (p.Thr32471Ser)
c.97330A>T (p.Thr32444Ser)
c.79093A>T (p.Thr26365Ser)
c.68947A>T (p.Thr22983Ser)
2g.178530417T>CCA349406654TTN,TTN-AS1c.98494A>G (p.Thr32832Ala)
c.79579A>G (p.Thr26527Ala)
c.79378A>G (p.Thr26460Ala)
c.79003A>G (p.Thr26335Ala)
c.106198A>G (p.Thr35400Ala)
c.101275A>G (p.Thr33759Ala)
n.446+6781T>C
n.220-5315T>C
c.105295A>G (p.Thr35099Ala)
c.79189A>G (p.Thr26397Ala)
c.79048A>G (p.Thr26350Ala)
c.105091A>G (p.Thr35031Ala)
c.100489A>G (p.Thr33497Ala)
c.100486A>G (p.Thr33496Ala)
c.97528A>G (p.Thr32510Ala)
c.79144A>G (p.Thr26382Ala)
c.100639A>G (p.Thr33547Ala)
c.100636A>G (p.Thr33546Ala)
c.100069A>G (p.Thr33357Ala)
c.97411A>G (p.Thr32471Ala)
c.97330A>G (p.Thr32444Ala)
c.79093A>G (p.Thr26365Ala)
c.68947A>G (p.Thr22983Ala)
2g.178530417T>GCA349406653TTN,TTN-AS1c.98494A>C (p.Thr32832Pro)
c.79579A>C (p.Thr26527Pro)
c.79378A>C (p.Thr26460Pro)
c.79003A>C (p.Thr26335Pro)
c.106198A>C (p.Thr35400Pro)
c.101275A>C (p.Thr33759Pro)
n.446+6781T>G
n.220-5315T>G
c.105295A>C (p.Thr35099Pro)
c.79189A>C (p.Thr26397Pro)
c.79048A>C (p.Thr26350Pro)
c.105091A>C (p.Thr35031Pro)
c.100489A>C (p.Thr33497Pro)
c.100486A>C (p.Thr33496Pro)
c.97528A>C (p.Thr32510Pro)
c.79144A>C (p.Thr26382Pro)
c.100639A>C (p.Thr33547Pro)
c.100636A>C (p.Thr33546Pro)
c.100069A>C (p.Thr33357Pro)
c.97411A>C (p.Thr32471Pro)
c.97330A>C (p.Thr32444Pro)
c.79093A>C (p.Thr26365Pro)
c.68947A>C (p.Thr22983Pro)
2g.178530418G>ACA430235316TTN,TTN-AS1c.98493C>T (p.Thr32831=)
c.79578C>T (p.Thr26526=)
c.79377C>T (p.Thr26459=)
c.79002C>T (p.Thr26334=)
c.106197C>T (p.Thr35399=)
c.101274C>T (p.Thr33758=)
n.446+6782G>A
n.220-5314G>A
c.105294C>T (p.Thr35098=)
c.79188C>T (p.Thr26396=)
c.79047C>T (p.Thr26349=)
c.105090C>T (p.Thr35030=)
c.100488C>T (p.Thr33496=)
c.100485C>T (p.Thr33495=)
c.97527C>T (p.Thr32509=)
c.79143C>T (p.Thr26381=)
c.100638C>T (p.Thr33546=)
c.100635C>T (p.Thr33545=)
c.100068C>T (p.Thr33356=)
c.97410C>T (p.Thr32470=)
c.97329C>T (p.Thr32443=)
c.79092C>T (p.Thr26364=)
c.68946C>T (p.Thr22982=)
2g.178530418G>CCA430235317TTN,TTN-AS1c.98493C>G (p.Thr32831=)
c.79578C>G (p.Thr26526=)
c.79377C>G (p.Thr26459=)
c.79002C>G (p.Thr26334=)
c.106197C>G (p.Thr35399=)
c.101274C>G (p.Thr33758=)
n.446+6782G>C
n.220-5314G>C
c.105294C>G (p.Thr35098=)
c.79188C>G (p.Thr26396=)
c.79047C>G (p.Thr26349=)
c.105090C>G (p.Thr35030=)
c.100488C>G (p.Thr33496=)
c.100485C>G (p.Thr33495=)
c.97527C>G (p.Thr32509=)
c.79143C>G (p.Thr26381=)
c.100638C>G (p.Thr33546=)
c.100635C>G (p.Thr33545=)
c.100068C>G (p.Thr33356=)
c.97410C>G (p.Thr32470=)
c.97329C>G (p.Thr32443=)
c.79092C>G (p.Thr26364=)
c.68946C>G (p.Thr22982=)
2g.178530418G>TCA430235321TTN,TTN-AS1c.98493C>A (p.Thr32831=)
c.79578C>A (p.Thr26526=)
c.79377C>A (p.Thr26459=)
c.79002C>A (p.Thr26334=)
c.106197C>A (p.Thr35399=)
c.101274C>A (p.Thr33758=)
n.446+6782G>T
n.220-5314G>T
c.105294C>A (p.Thr35098=)
c.79188C>A (p.Thr26396=)
c.79047C>A (p.Thr26349=)
c.105090C>A (p.Thr35030=)
c.100488C>A (p.Thr33496=)
c.100485C>A (p.Thr33495=)
c.97527C>A (p.Thr32509=)
c.79143C>A (p.Thr26381=)
c.100638C>A (p.Thr33546=)
c.100635C>A (p.Thr33545=)
c.100068C>A (p.Thr33356=)
c.97410C>A (p.Thr32470=)
c.97329C>A (p.Thr32443=)
c.79092C>A (p.Thr26364=)
c.68946C>A (p.Thr22982=)
2g.178530418_178530420delinsGGTCA1310514616TTN,TTN-AS1c.98491_98493delinsACC (p.Thr32831=)
c.79576_79578delinsACC (p.Thr26526=)
c.79375_79377delinsACC (p.Thr26459=)
c.79000_79002delinsACC (p.Thr26334=)
c.106195_106197delinsACC (p.Thr35399=)
c.101272_101274delinsACC (p.Thr33758=)
n.446+6782_446+6784delinsGGT
n.220-5314_220-5312delinsGGT
c.105292_105294delinsACC (p.Thr35098=)
c.79186_79188delinsACC (p.Thr26396=)
c.79045_79047delinsACC (p.Thr26349=)
c.105088_105090delinsACC (p.Thr35030=)
c.100486_100488delinsACC (p.Thr33496=)
c.100483_100485delinsACC (p.Thr33495=)
c.97525_97527delinsACC (p.Thr32509=)
c.79141_79143delinsACC (p.Thr26381=)
c.100636_100638delinsACC (p.Thr33546=)
c.100633_100635delinsACC (p.Thr33545=)
c.100066_100068delinsACC (p.Thr33356=)
c.97408_97410delinsACC (p.Thr32470=)
c.97327_97329delinsACC (p.Thr32443=)
c.79090_79092delinsACC (p.Thr26364=)
c.68944_68946delinsACC (p.Thr22982=)
2g.178530419G>ACA349406659TTN,TTN-AS1c.98492C>T (p.Thr32831Ile)
c.79577C>T (p.Thr26526Ile)
c.79376C>T (p.Thr26459Ile)
c.79001C>T (p.Thr26334Ile)
c.106196C>T (p.Thr35399Ile)
c.101273C>T (p.Thr33758Ile)
n.446+6783G>A
n.220-5313G>A
c.105293C>T (p.Thr35098Ile)
c.79187C>T (p.Thr26396Ile)
c.79046C>T (p.Thr26349Ile)
c.105089C>T (p.Thr35030Ile)
c.100487C>T (p.Thr33496Ile)
c.100484C>T (p.Thr33495Ile)
c.97526C>T (p.Thr32509Ile)
c.79142C>T (p.Thr26381Ile)
c.100637C>T (p.Thr33546Ile)
c.100634C>T (p.Thr33545Ile)
c.100067C>T (p.Thr33356Ile)
c.97409C>T (p.Thr32470Ile)
c.97328C>T (p.Thr32443Ile)
c.79091C>T (p.Thr26364Ile)
c.68945C>T (p.Thr22982Ile)
2g.178530419G>CCA349406662TTN,TTN-AS1c.98492C>G (p.Thr32831Ser)
c.79577C>G (p.Thr26526Ser)
c.79376C>G (p.Thr26459Ser)
c.79001C>G (p.Thr26334Ser)
c.106196C>G (p.Thr35399Ser)
c.101273C>G (p.Thr33758Ser)
n.446+6783G>C
n.220-5313G>C
c.105293C>G (p.Thr35098Ser)
c.79187C>G (p.Thr26396Ser)
c.79046C>G (p.Thr26349Ser)
c.105089C>G (p.Thr35030Ser)
c.100487C>G (p.Thr33496Ser)
c.100484C>G (p.Thr33495Ser)
c.97526C>G (p.Thr32509Ser)
c.79142C>G (p.Thr26381Ser)
c.100637C>G (p.Thr33546Ser)
c.100634C>G (p.Thr33545Ser)
c.100067C>G (p.Thr33356Ser)
c.97409C>G (p.Thr32470Ser)
c.97328C>G (p.Thr32443Ser)
c.79091C>G (p.Thr26364Ser)
c.68945C>G (p.Thr22982Ser)
2g.178530419G>TCA349406660TTN,TTN-AS1c.98492C>A (p.Thr32831Asn)
c.79577C>A (p.Thr26526Asn)
c.79376C>A (p.Thr26459Asn)
c.79001C>A (p.Thr26334Asn)
c.106196C>A (p.Thr35399Asn)
c.101273C>A (p.Thr33758Asn)
n.446+6783G>T
n.220-5313G>T
c.105293C>A (p.Thr35098Asn)
c.79187C>A (p.Thr26396Asn)
c.79046C>A (p.Thr26349Asn)
c.105089C>A (p.Thr35030Asn)
c.100487C>A (p.Thr33496Asn)
c.100484C>A (p.Thr33495Asn)
c.97526C>A (p.Thr32509Asn)
c.79142C>A (p.Thr26381Asn)
c.100637C>A (p.Thr33546Asn)
c.100634C>A (p.Thr33545Asn)
c.100067C>A (p.Thr33356Asn)
c.97409C>A (p.Thr32470Asn)
c.97328C>A (p.Thr32443Asn)
c.79091C>A (p.Thr26364Asn)
c.68945C>A (p.Thr22982Asn)
2g.178530419_178530420delCA1310514618TTN,TTN-AS1c.98491_98492del (p.Thr32831HisfsTer2)
c.79576_79577del (p.Thr26526HisfsTer2)
c.79375_79376del (p.Thr26459HisfsTer2)
c.79000_79001del (p.Thr26334HisfsTer2)
c.106195_106196del (p.Thr35399HisfsTer2)
c.101272_101273del (p.Thr33758HisfsTer2)
n.446+6783_446+6784del
n.220-5313_220-5312del
c.105292_105293del (p.Thr35098HisfsTer2)
c.79186_79187del (p.Thr26396HisfsTer2)
c.79045_79046del (p.Thr26349HisfsTer2)
c.105088_105089del (p.Thr35030HisfsTer2)
c.100486_100487del (p.Thr33496HisfsTer2)
c.100483_100484del (p.Thr33495HisfsTer2)
c.97525_97526del (p.Thr32509HisfsTer2)
c.79141_79142del (p.Thr26381HisfsTer2)
c.100636_100637del (p.Thr33546HisfsTer2)
c.100633_100634del (p.Thr33545HisfsTer2)
c.100066_100067del (p.Thr33356HisfsTer2)
c.97408_97409del (p.Thr32470HisfsTer2)
c.97327_97328del (p.Thr32443HisfsTer2)
c.79090_79091del (p.Thr26364HisfsTer2)
c.68944_68945del (p.Thr22982HisfsTer2)
 dbSNP
2g.178530420T>ACA349406664TTN,TTN-AS1c.98491A>T (p.Thr32831Ser)
c.79576A>T (p.Thr26526Ser)
c.79375A>T (p.Thr26459Ser)
c.79000A>T (p.Thr26334Ser)
c.106195A>T (p.Thr35399Ser)
c.101272A>T (p.Thr33758Ser)
n.446+6784T>A
n.220-5312T>A
c.105292A>T (p.Thr35098Ser)
c.79186A>T (p.Thr26396Ser)
c.79045A>T (p.Thr26349Ser)
c.105088A>T (p.Thr35030Ser)
c.100486A>T (p.Thr33496Ser)
c.100483A>T (p.Thr33495Ser)
c.97525A>T (p.Thr32509Ser)
c.79141A>T (p.Thr26381Ser)
c.100636A>T (p.Thr33546Ser)
c.100633A>T (p.Thr33545Ser)
c.100066A>T (p.Thr33356Ser)
c.97408A>T (p.Thr32470Ser)
c.97327A>T (p.Thr32443Ser)
c.79090A>T (p.Thr26364Ser)
c.68944A>T (p.Thr22982Ser)
2g.178530420T>CCA349406665TTN,TTN-AS1c.98491A>G (p.Thr32831Ala)
c.79576A>G (p.Thr26526Ala)
c.79375A>G (p.Thr26459Ala)
c.79000A>G (p.Thr26334Ala)
c.106195A>G (p.Thr35399Ala)
c.101272A>G (p.Thr33758Ala)
n.446+6784T>C
n.220-5312T>C
c.105292A>G (p.Thr35098Ala)
c.79186A>G (p.Thr26396Ala)
c.79045A>G (p.Thr26349Ala)
c.105088A>G (p.Thr35030Ala)
c.100486A>G (p.Thr33496Ala)
c.100483A>G (p.Thr33495Ala)
c.97525A>G (p.Thr32509Ala)
c.79141A>G (p.Thr26381Ala)
c.100636A>G (p.Thr33546Ala)
c.100633A>G (p.Thr33545Ala)
c.100066A>G (p.Thr33356Ala)
c.97408A>G (p.Thr32470Ala)
c.97327A>G (p.Thr32443Ala)
c.79090A>G (p.Thr26364Ala)
c.68944A>G (p.Thr22982Ala)
2g.178530420T>GCA349406667TTN,TTN-AS1c.98491A>C (p.Thr32831Pro)
c.79576A>C (p.Thr26526Pro)
c.79375A>C (p.Thr26459Pro)
c.79000A>C (p.Thr26334Pro)
c.106195A>C (p.Thr35399Pro)
c.101272A>C (p.Thr33758Pro)
n.446+6784T>G
n.220-5312T>G
c.105292A>C (p.Thr35098Pro)
c.79186A>C (p.Thr26396Pro)
c.79045A>C (p.Thr26349Pro)
c.105088A>C (p.Thr35030Pro)
c.100486A>C (p.Thr33496Pro)
c.100483A>C (p.Thr33495Pro)
c.97525A>C (p.Thr32509Pro)
c.79141A>C (p.Thr26381Pro)
c.100636A>C (p.Thr33546Pro)
c.100633A>C (p.Thr33545Pro)
c.100066A>C (p.Thr33356Pro)
c.97408A>C (p.Thr32470Pro)
c.97327A>C (p.Thr32443Pro)
c.79090A>C (p.Thr26364Pro)
c.68944A>C (p.Thr22982Pro)
2g.178530421T>ACA349406669TTN,TTN-AS1c.98490A>T (p.Lys32830Asn)
c.79575A>T (p.Lys26525Asn)
c.79374A>T (p.Lys26458Asn)
c.78999A>T (p.Lys26333Asn)
c.106194A>T (p.Lys35398Asn)
c.101271A>T (p.Lys33757Asn)
n.446+6785T>A
n.220-5311T>A
c.105291A>T (p.Lys35097Asn)
c.79185A>T (p.Lys26395Asn)
c.79044A>T (p.Lys26348Asn)
c.105087A>T (p.Lys35029Asn)
c.100485A>T (p.Lys33495Asn)
c.100482A>T (p.Lys33494Asn)
c.97524A>T (p.Lys32508Asn)
c.79140A>T (p.Lys26380Asn)
c.100635A>T (p.Lys33545Asn)
c.100632A>T (p.Lys33544Asn)
c.100065A>T (p.Lys33355Asn)
c.97407A>T (p.Lys32469Asn)
c.97326A>T (p.Lys32442Asn)
c.79089A>T (p.Lys26363Asn)
c.68943A>T (p.Lys22981Asn)
2g.178530421T>CCA430235327TTN,TTN-AS1c.98490A>G (p.Lys32830=)
c.79575A>G (p.Lys26525=)
c.79374A>G (p.Lys26458=)
c.78999A>G (p.Lys26333=)
c.106194A>G (p.Lys35398=)
c.101271A>G (p.Lys33757=)
n.446+6785T>C
n.220-5311T>C
c.105291A>G (p.Lys35097=)
c.79185A>G (p.Lys26395=)
c.79044A>G (p.Lys26348=)
c.105087A>G (p.Lys35029=)
c.100485A>G (p.Lys33495=)
c.100482A>G (p.Lys33494=)
c.97524A>G (p.Lys32508=)
c.79140A>G (p.Lys26380=)
c.100635A>G (p.Lys33545=)
c.100632A>G (p.Lys33544=)
c.100065A>G (p.Lys33355=)
c.97407A>G (p.Lys32469=)
c.97326A>G (p.Lys32442=)
c.79089A>G (p.Lys26363=)
c.68943A>G (p.Lys22981=)
2g.178530421T>GCA349406671TTN,TTN-AS1c.98490A>C (p.Lys32830Asn)
c.79575A>C (p.Lys26525Asn)
c.79374A>C (p.Lys26458Asn)
c.78999A>C (p.Lys26333Asn)
c.106194A>C (p.Lys35398Asn)
c.101271A>C (p.Lys33757Asn)
n.446+6785T>G
n.220-5311T>G
c.105291A>C (p.Lys35097Asn)
c.79185A>C (p.Lys26395Asn)
c.79044A>C (p.Lys26348Asn)
c.105087A>C (p.Lys35029Asn)
c.100485A>C (p.Lys33495Asn)
c.100482A>C (p.Lys33494Asn)
c.97524A>C (p.Lys32508Asn)
c.79140A>C (p.Lys26380Asn)
c.100635A>C (p.Lys33545Asn)
c.100632A>C (p.Lys33544Asn)
c.100065A>C (p.Lys33355Asn)
c.97407A>C (p.Lys32469Asn)
c.97326A>C (p.Lys32442Asn)
c.79089A>C (p.Lys26363Asn)
c.68943A>C (p.Lys22981Asn)
2g.178530422T>ACA349406674TTN,TTN-AS1c.98489A>T (p.Lys32830Ile)
c.79574A>T (p.Lys26525Ile)
c.79373A>T (p.Lys26458Ile)
c.78998A>T (p.Lys26333Ile)
c.106193A>T (p.Lys35398Ile)
c.101270A>T (p.Lys33757Ile)
n.446+6786T>A
n.220-5310T>A
c.105290A>T (p.Lys35097Ile)
c.79184A>T (p.Lys26395Ile)
c.79043A>T (p.Lys26348Ile)
c.105086A>T (p.Lys35029Ile)
c.100484A>T (p.Lys33495Ile)
c.100481A>T (p.Lys33494Ile)
c.97523A>T (p.Lys32508Ile)
c.79139A>T (p.Lys26380Ile)
c.100634A>T (p.Lys33545Ile)
c.100631A>T (p.Lys33544Ile)
c.100064A>T (p.Lys33355Ile)
c.97406A>T (p.Lys32469Ile)
c.97325A>T (p.Lys32442Ile)
c.79088A>T (p.Lys26363Ile)
c.68942A>T (p.Lys22981Ile)
2g.178530422T>CCA349406676TTN,TTN-AS1c.98489A>G (p.Lys32830Arg)
c.79574A>G (p.Lys26525Arg)
c.79373A>G (p.Lys26458Arg)
c.78998A>G (p.Lys26333Arg)
c.106193A>G (p.Lys35398Arg)
c.101270A>G (p.Lys33757Arg)
n.446+6786T>C
n.220-5310T>C
c.105290A>G (p.Lys35097Arg)
c.79184A>G (p.Lys26395Arg)
c.79043A>G (p.Lys26348Arg)
c.105086A>G (p.Lys35029Arg)
c.100484A>G (p.Lys33495Arg)
c.100481A>G (p.Lys33494Arg)
c.97523A>G (p.Lys32508Arg)
c.79139A>G (p.Lys26380Arg)
c.100634A>G (p.Lys33545Arg)
c.100631A>G (p.Lys33544Arg)
c.100064A>G (p.Lys33355Arg)
c.97406A>G (p.Lys32469Arg)
c.97325A>G (p.Lys32442Arg)
c.79088A>G (p.Lys26363Arg)
c.68942A>G (p.Lys22981Arg)
2g.178530422T>GCA349406677TTN,TTN-AS1c.98489A>C (p.Lys32830Thr)
c.79574A>C (p.Lys26525Thr)
c.79373A>C (p.Lys26458Thr)
c.78998A>C (p.Lys26333Thr)
c.106193A>C (p.Lys35398Thr)
c.101270A>C (p.Lys33757Thr)
n.446+6786T>G
n.220-5310T>G
c.105290A>C (p.Lys35097Thr)
c.79184A>C (p.Lys26395Thr)
c.79043A>C (p.Lys26348Thr)
c.105086A>C (p.Lys35029Thr)
c.100484A>C (p.Lys33495Thr)
c.100481A>C (p.Lys33494Thr)
c.97523A>C (p.Lys32508Thr)
c.79139A>C (p.Lys26380Thr)
c.100634A>C (p.Lys33545Thr)
c.100631A>C (p.Lys33544Thr)
c.100064A>C (p.Lys33355Thr)
c.97406A>C (p.Lys32469Thr)
c.97325A>C (p.Lys32442Thr)
c.79088A>C (p.Lys26363Thr)
c.68942A>C (p.Lys22981Thr)
2g.178530423T>ACA349406680TTN,TTN-AS1c.98488A>T (p.Lys32830Ter)
c.79573A>T (p.Lys26525Ter)
c.79372A>T (p.Lys26458Ter)
c.78997A>T (p.Lys26333Ter)
c.106192A>T (p.Lys35398Ter)
c.101269A>T (p.Lys33757Ter)
n.446+6787T>A
n.220-5309T>A
c.105289A>T (p.Lys35097Ter)
c.79183A>T (p.Lys26395Ter)
c.79042A>T (p.Lys26348Ter)
c.105085A>T (p.Lys35029Ter)
c.100483A>T (p.Lys33495Ter)
c.100480A>T (p.Lys33494Ter)
c.97522A>T (p.Lys32508Ter)
c.79138A>T (p.Lys26380Ter)
c.100633A>T (p.Lys33545Ter)
c.100630A>T (p.Lys33544Ter)
c.100063A>T (p.Lys33355Ter)
c.97405A>T (p.Lys32469Ter)
c.97324A>T (p.Lys32442Ter)
c.79087A>T (p.Lys26363Ter)
c.68941A>T (p.Lys22981Ter)
2g.178530423T>CCA349406682TTN,TTN-AS1c.98488A>G (p.Lys32830Glu)
c.79573A>G (p.Lys26525Glu)
c.79372A>G (p.Lys26458Glu)
c.78997A>G (p.Lys26333Glu)
c.106192A>G (p.Lys35398Glu)
c.101269A>G (p.Lys33757Glu)
n.446+6787T>C
n.220-5309T>C
c.105289A>G (p.Lys35097Glu)
c.79183A>G (p.Lys26395Glu)
c.79042A>G (p.Lys26348Glu)
c.105085A>G (p.Lys35029Glu)
c.100483A>G (p.Lys33495Glu)
c.100480A>G (p.Lys33494Glu)
c.97522A>G (p.Lys32508Glu)
c.79138A>G (p.Lys26380Glu)
c.100633A>G (p.Lys33545Glu)
c.100630A>G (p.Lys33544Glu)
c.100063A>G (p.Lys33355Glu)
c.97405A>G (p.Lys32469Glu)
c.97324A>G (p.Lys32442Glu)
c.79087A>G (p.Lys26363Glu)
c.68941A>G (p.Lys22981Glu)
 gnomAD v4
2g.178530423T>GCA349406684TTN,TTN-AS1c.98488A>C (p.Lys32830Gln)
c.79573A>C (p.Lys26525Gln)
c.79372A>C (p.Lys26458Gln)
c.78997A>C (p.Lys26333Gln)
c.106192A>C (p.Lys35398Gln)
c.101269A>C (p.Lys33757Gln)
n.446+6787T>G
n.220-5309T>G
c.105289A>C (p.Lys35097Gln)
c.79183A>C (p.Lys26395Gln)
c.79042A>C (p.Lys26348Gln)
c.105085A>C (p.Lys35029Gln)
c.100483A>C (p.Lys33495Gln)
c.100480A>C (p.Lys33494Gln)
c.97522A>C (p.Lys32508Gln)
c.79138A>C (p.Lys26380Gln)
c.100633A>C (p.Lys33545Gln)
c.100630A>C (p.Lys33544Gln)
c.100063A>C (p.Lys33355Gln)
c.97405A>C (p.Lys32469Gln)
c.97324A>C (p.Lys32442Gln)
c.79087A>C (p.Lys26363Gln)
c.68941A>C (p.Lys22981Gln)
2g.178530424C>ACA349406687TTN,TTN-AS1c.98487G>T (p.Gln32829His)
c.79572G>T (p.Gln26524His)
c.79371G>T (p.Gln26457His)
c.78996G>T (p.Gln26332His)
c.106191G>T (p.Gln35397His)
c.101268G>T (p.Gln33756His)
n.446+6788C>A
n.220-5308C>A
c.105288G>T (p.Gln35096His)
c.79182G>T (p.Gln26394His)
c.79041G>T (p.Gln26347His)
c.105084G>T (p.Gln35028His)
c.100482G>T (p.Gln33494His)
c.100479G>T (p.Gln33493His)
c.97521G>T (p.Gln32507His)
c.79137G>T (p.Gln26379His)
c.100632G>T (p.Gln33544His)
c.100629G>T (p.Gln33543His)
c.100062G>T (p.Gln33354His)
c.97404G>T (p.Gln32468His)
c.97323G>T (p.Gln32441His)
c.79086G>T (p.Gln26362His)
c.68940G>T (p.Gln22980His)
2g.178530424C=CA1310514620TTN,TTN-AS1c.98487G= (p.Gln32829=)
c.79572G= (p.Gln26524=)
c.79371G= (p.Gln26457=)
c.78996G= (p.Gln26332=)
c.106191G= (p.Gln35397=)
c.101268G= (p.Gln33756=)
n.446+6788C=
n.220-5308C=
c.105288G= (p.Gln35096=)
c.79182G= (p.Gln26394=)
c.79041G= (p.Gln26347=)
c.105084G= (p.Gln35028=)
c.100482G= (p.Gln33494=)
c.100479G= (p.Gln33493=)
c.97521G= (p.Gln32507=)
c.79137G= (p.Gln26379=)
c.100632G= (p.Gln33544=)
c.100629G= (p.Gln33543=)
c.100062G= (p.Gln33354=)
c.97404G= (p.Gln32468=)
c.97323G= (p.Gln32441=)
c.79086G= (p.Gln26362=)
c.68940G= (p.Gln22980=)
2g.178530424C>GCA1985149TTN,TTN-AS1c.98487G>C (p.Gln32829His)
c.79572G>C (p.Gln26524His)
c.79371G>C (p.Gln26457His)
c.78996G>C (p.Gln26332His)
c.106191G>C (p.Gln35397His)
c.101268G>C (p.Gln33756His)
n.446+6788C>G
n.220-5308C>G
c.105288G>C (p.Gln35096His)
c.79182G>C (p.Gln26394His)
c.79041G>C (p.Gln26347His)
c.105084G>C (p.Gln35028His)
c.100482G>C (p.Gln33494His)
c.100479G>C (p.Gln33493His)
c.97521G>C (p.Gln32507His)
c.79137G>C (p.Gln26379His)
c.100632G>C (p.Gln33544His)
c.100629G>C (p.Gln33543His)
c.100062G>C (p.Gln33354His)
c.97404G>C (p.Gln32468His)
c.97323G>C (p.Gln32441His)
c.79086G>C (p.Gln26362His)
c.68940G>C (p.Gln22980His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530424C>TCA430235333TTN,TTN-AS1c.98487G>A (p.Gln32829=)
c.79572G>A (p.Gln26524=)
c.79371G>A (p.Gln26457=)
c.78996G>A (p.Gln26332=)
c.106191G>A (p.Gln35397=)
c.101268G>A (p.Gln33756=)
n.446+6788C>T
n.220-5308C>T
c.105288G>A (p.Gln35096=)
c.79182G>A (p.Gln26394=)
c.79041G>A (p.Gln26347=)
c.105084G>A (p.Gln35028=)
c.100482G>A (p.Gln33494=)
c.100479G>A (p.Gln33493=)
c.97521G>A (p.Gln32507=)
c.79137G>A (p.Gln26379=)
c.100632G>A (p.Gln33544=)
c.100629G>A (p.Gln33543=)
c.100062G>A (p.Gln33354=)
c.97404G>A (p.Gln32468=)
c.97323G>A (p.Gln32441=)
c.79086G>A (p.Gln26362=)
c.68940G>A (p.Gln22980=)
2g.178530425T>ACA349406692TTN,TTN-AS1c.98486A>T (p.Gln32829Leu)
c.79571A>T (p.Gln26524Leu)
c.79370A>T (p.Gln26457Leu)
c.78995A>T (p.Gln26332Leu)
c.106190A>T (p.Gln35397Leu)
c.101267A>T (p.Gln33756Leu)
n.446+6789T>A
n.220-5307T>A
c.105287A>T (p.Gln35096Leu)
c.79181A>T (p.Gln26394Leu)
c.79040A>T (p.Gln26347Leu)
c.105083A>T (p.Gln35028Leu)
c.100481A>T (p.Gln33494Leu)
c.100478A>T (p.Gln33493Leu)
c.97520A>T (p.Gln32507Leu)
c.79136A>T (p.Gln26379Leu)
c.100631A>T (p.Gln33544Leu)
c.100628A>T (p.Gln33543Leu)
c.100061A>T (p.Gln33354Leu)
c.97403A>T (p.Gln32468Leu)
c.97322A>T (p.Gln32441Leu)
c.79085A>T (p.Gln26362Leu)
c.68939A>T (p.Gln22980Leu)
2g.178530425T>CCA349406696TTN,TTN-AS1c.98486A>G (p.Gln32829Arg)
c.79571A>G (p.Gln26524Arg)
c.79370A>G (p.Gln26457Arg)
c.78995A>G (p.Gln26332Arg)
c.106190A>G (p.Gln35397Arg)
c.101267A>G (p.Gln33756Arg)
n.446+6789T>C
n.220-5307T>C
c.105287A>G (p.Gln35096Arg)
c.79181A>G (p.Gln26394Arg)
c.79040A>G (p.Gln26347Arg)
c.105083A>G (p.Gln35028Arg)
c.100481A>G (p.Gln33494Arg)
c.100478A>G (p.Gln33493Arg)
c.97520A>G (p.Gln32507Arg)
c.79136A>G (p.Gln26379Arg)
c.100631A>G (p.Gln33544Arg)
c.100628A>G (p.Gln33543Arg)
c.100061A>G (p.Gln33354Arg)
c.97403A>G (p.Gln32468Arg)
c.97322A>G (p.Gln32441Arg)
c.79085A>G (p.Gln26362Arg)
c.68939A>G (p.Gln22980Arg)
2g.178530425T>GCA349406694TTN,TTN-AS1c.98486A>C (p.Gln32829Pro)
c.79571A>C (p.Gln26524Pro)
c.79370A>C (p.Gln26457Pro)
c.78995A>C (p.Gln26332Pro)
c.106190A>C (p.Gln35397Pro)
c.101267A>C (p.Gln33756Pro)
n.446+6789T>G
n.220-5307T>G
c.105287A>C (p.Gln35096Pro)
c.79181A>C (p.Gln26394Pro)
c.79040A>C (p.Gln26347Pro)
c.105083A>C (p.Gln35028Pro)
c.100481A>C (p.Gln33494Pro)
c.100478A>C (p.Gln33493Pro)
c.97520A>C (p.Gln32507Pro)
c.79136A>C (p.Gln26379Pro)
c.100631A>C (p.Gln33544Pro)
c.100628A>C (p.Gln33543Pro)
c.100061A>C (p.Gln33354Pro)
c.97403A>C (p.Gln32468Pro)
c.97322A>C (p.Gln32441Pro)
c.79085A>C (p.Gln26362Pro)
c.68939A>C (p.Gln22980Pro)
2g.178530426G>ACA349406699TTN,TTN-AS1c.98485C>T (p.Gln32829Ter)
c.79570C>T (p.Gln26524Ter)
c.79369C>T (p.Gln26457Ter)
c.78994C>T (p.Gln26332Ter)
c.106189C>T (p.Gln35397Ter)
c.101266C>T (p.Gln33756Ter)
n.446+6790G>A
n.220-5306G>A
c.105286C>T (p.Gln35096Ter)
c.79180C>T (p.Gln26394Ter)
c.79039C>T (p.Gln26347Ter)
c.105082C>T (p.Gln35028Ter)
c.100480C>T (p.Gln33494Ter)
c.100477C>T (p.Gln33493Ter)
c.97519C>T (p.Gln32507Ter)
c.79135C>T (p.Gln26379Ter)
c.100630C>T (p.Gln33544Ter)
c.100627C>T (p.Gln33543Ter)
c.100060C>T (p.Gln33354Ter)
c.97402C>T (p.Gln32468Ter)
c.97321C>T (p.Gln32441Ter)
c.79084C>T (p.Gln26362Ter)
c.68938C>T (p.Gln22980Ter)
 ClinVar
2g.178530426G>CCA349406700TTN,TTN-AS1c.98485C>G (p.Gln32829Glu)
c.79570C>G (p.Gln26524Glu)
c.79369C>G (p.Gln26457Glu)
c.78994C>G (p.Gln26332Glu)
c.106189C>G (p.Gln35397Glu)
c.101266C>G (p.Gln33756Glu)
n.446+6790G>C
n.220-5306G>C
c.105286C>G (p.Gln35096Glu)
c.79180C>G (p.Gln26394Glu)
c.79039C>G (p.Gln26347Glu)
c.105082C>G (p.Gln35028Glu)
c.100480C>G (p.Gln33494Glu)
c.100477C>G (p.Gln33493Glu)
c.97519C>G (p.Gln32507Glu)
c.79135C>G (p.Gln26379Glu)
c.100630C>G (p.Gln33544Glu)
c.100627C>G (p.Gln33543Glu)
c.100060C>G (p.Gln33354Glu)
c.97402C>G (p.Gln32468Glu)
c.97321C>G (p.Gln32441Glu)
c.79084C>G (p.Gln26362Glu)
c.68938C>G (p.Gln22980Glu)
2g.178530426G>TCA349406703TTN,TTN-AS1c.98485C>A (p.Gln32829Lys)
c.79570C>A (p.Gln26524Lys)
c.79369C>A (p.Gln26457Lys)
c.78994C>A (p.Gln26332Lys)
c.106189C>A (p.Gln35397Lys)
c.101266C>A (p.Gln33756Lys)
n.446+6790G>T
n.220-5306G>T
c.105286C>A (p.Gln35096Lys)
c.79180C>A (p.Gln26394Lys)
c.79039C>A (p.Gln26347Lys)
c.105082C>A (p.Gln35028Lys)
c.100480C>A (p.Gln33494Lys)
c.100477C>A (p.Gln33493Lys)
c.97519C>A (p.Gln32507Lys)
c.79135C>A (p.Gln26379Lys)
c.100630C>A (p.Gln33544Lys)
c.100627C>A (p.Gln33543Lys)
c.100060C>A (p.Gln33354Lys)
c.97402C>A (p.Gln32468Lys)
c.97321C>A (p.Gln32441Lys)
c.79084C>A (p.Gln26362Lys)
c.68938C>A (p.Gln22980Lys)
2g.178530427A=CA1310514623TTN,TTN-AS1c.98484T= (p.Asp32828=)
c.79569T= (p.Asp26523=)
c.79368T= (p.Asp26456=)
c.78993T= (p.Asp26331=)
c.106188T= (p.Asp35396=)
c.101265T= (p.Asp33755=)
n.446+6791A=
n.220-5305A=
c.105285T= (p.Asp35095=)
c.79179T= (p.Asp26393=)
c.79038T= (p.Asp26346=)
c.105081T= (p.Asp35027=)
c.100479T= (p.Asp33493=)
c.100476T= (p.Asp33492=)
c.97518T= (p.Asp32506=)
c.79134T= (p.Asp26378=)
c.100629T= (p.Asp33543=)
c.100626T= (p.Asp33542=)
c.100059T= (p.Asp33353=)
c.97401T= (p.Asp32467=)
c.97320T= (p.Asp32440=)
c.79083T= (p.Asp26361=)
c.68937T= (p.Asp22979=)
2g.178530427A>CCA349406705TTN,TTN-AS1c.98484T>G (p.Asp32828Glu)
c.79569T>G (p.Asp26523Glu)
c.79368T>G (p.Asp26456Glu)
c.78993T>G (p.Asp26331Glu)
c.106188T>G (p.Asp35396Glu)
c.101265T>G (p.Asp33755Glu)
n.446+6791A>C
n.220-5305A>C
c.105285T>G (p.Asp35095Glu)
c.79179T>G (p.Asp26393Glu)
c.79038T>G (p.Asp26346Glu)
c.105081T>G (p.Asp35027Glu)
c.100479T>G (p.Asp33493Glu)
c.100476T>G (p.Asp33492Glu)
c.97518T>G (p.Asp32506Glu)
c.79134T>G (p.Asp26378Glu)
c.100629T>G (p.Asp33543Glu)
c.100626T>G (p.Asp33542Glu)
c.100059T>G (p.Asp33353Glu)
c.97401T>G (p.Asp32467Glu)
c.97320T>G (p.Asp32440Glu)
c.79083T>G (p.Asp26361Glu)
c.68937T>G (p.Asp22979Glu)
2g.178530427A>GCA1985150TTN,TTN-AS1c.98484T>C (p.Asp32828=)
c.79569T>C (p.Asp26523=)
c.79368T>C (p.Asp26456=)
c.78993T>C (p.Asp26331=)
c.106188T>C (p.Asp35396=)
c.101265T>C (p.Asp33755=)
n.446+6791A>G
n.220-5305A>G
c.105285T>C (p.Asp35095=)
c.79179T>C (p.Asp26393=)
c.79038T>C (p.Asp26346=)
c.105081T>C (p.Asp35027=)
c.100479T>C (p.Asp33493=)
c.100476T>C (p.Asp33492=)
c.97518T>C (p.Asp32506=)
c.79134T>C (p.Asp26378=)
c.100629T>C (p.Asp33543=)
c.100626T>C (p.Asp33542=)
c.100059T>C (p.Asp33353=)
c.97401T>C (p.Asp32467=)
c.97320T>C (p.Asp32440=)
c.79083T>C (p.Asp26361=)
c.68937T>C (p.Asp22979=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530427A>TCA349406709TTN,TTN-AS1c.98484T>A (p.Asp32828Glu)
c.79569T>A (p.Asp26523Glu)
c.79368T>A (p.Asp26456Glu)
c.78993T>A (p.Asp26331Glu)
c.106188T>A (p.Asp35396Glu)
c.101265T>A (p.Asp33755Glu)
n.446+6791A>T
n.220-5305A>T
c.105285T>A (p.Asp35095Glu)
c.79179T>A (p.Asp26393Glu)
c.79038T>A (p.Asp26346Glu)
c.105081T>A (p.Asp35027Glu)
c.100479T>A (p.Asp33493Glu)
c.100476T>A (p.Asp33492Glu)
c.97518T>A (p.Asp32506Glu)
c.79134T>A (p.Asp26378Glu)
c.100629T>A (p.Asp33543Glu)
c.100626T>A (p.Asp33542Glu)
c.100059T>A (p.Asp33353Glu)
c.97401T>A (p.Asp32467Glu)
c.97320T>A (p.Asp32440Glu)
c.79083T>A (p.Asp26361Glu)
c.68937T>A (p.Asp22979Glu)
 ClinVar dbSNP gnomAD v4
2g.178530428T>ACA349406711TTN,TTN-AS1c.98483A>T (p.Asp32828Val)
c.79568A>T (p.Asp26523Val)
c.79367A>T (p.Asp26456Val)
c.78992A>T (p.Asp26331Val)
c.106187A>T (p.Asp35396Val)
c.101264A>T (p.Asp33755Val)
n.446+6792T>A
n.220-5304T>A
c.105284A>T (p.Asp35095Val)
c.79178A>T (p.Asp26393Val)
c.79037A>T (p.Asp26346Val)
c.105080A>T (p.Asp35027Val)
c.100478A>T (p.Asp33493Val)
c.100475A>T (p.Asp33492Val)
c.97517A>T (p.Asp32506Val)
c.79133A>T (p.Asp26378Val)
c.100628A>T (p.Asp33543Val)
c.100625A>T (p.Asp33542Val)
c.100058A>T (p.Asp33353Val)
c.97400A>T (p.Asp32467Val)
c.97319A>T (p.Asp32440Val)
c.79082A>T (p.Asp26361Val)
c.68936A>T (p.Asp22979Val)
2g.178530428T>CCA349406713TTN,TTN-AS1c.98483A>G (p.Asp32828Gly)
c.79568A>G (p.Asp26523Gly)
c.79367A>G (p.Asp26456Gly)
c.78992A>G (p.Asp26331Gly)
c.106187A>G (p.Asp35396Gly)
c.101264A>G (p.Asp33755Gly)
n.446+6792T>C
n.220-5304T>C
c.105284A>G (p.Asp35095Gly)
c.79178A>G (p.Asp26393Gly)
c.79037A>G (p.Asp26346Gly)
c.105080A>G (p.Asp35027Gly)
c.100478A>G (p.Asp33493Gly)
c.100475A>G (p.Asp33492Gly)
c.97517A>G (p.Asp32506Gly)
c.79133A>G (p.Asp26378Gly)
c.100628A>G (p.Asp33543Gly)
c.100625A>G (p.Asp33542Gly)
c.100058A>G (p.Asp33353Gly)
c.97400A>G (p.Asp32467Gly)
c.97319A>G (p.Asp32440Gly)
c.79082A>G (p.Asp26361Gly)
c.68936A>G (p.Asp22979Gly)
2g.178530428T>GCA349406715TTN,TTN-AS1c.98483A>C (p.Asp32828Ala)
c.79568A>C (p.Asp26523Ala)
c.79367A>C (p.Asp26456Ala)
c.78992A>C (p.Asp26331Ala)
c.106187A>C (p.Asp35396Ala)
c.101264A>C (p.Asp33755Ala)
n.446+6792T>G
n.220-5304T>G
c.105284A>C (p.Asp35095Ala)
c.79178A>C (p.Asp26393Ala)
c.79037A>C (p.Asp26346Ala)
c.105080A>C (p.Asp35027Ala)
c.100478A>C (p.Asp33493Ala)
c.100475A>C (p.Asp33492Ala)
c.97517A>C (p.Asp32506Ala)
c.79133A>C (p.Asp26378Ala)
c.100628A>C (p.Asp33543Ala)
c.100625A>C (p.Asp33542Ala)
c.100058A>C (p.Asp33353Ala)
c.97400A>C (p.Asp32467Ala)
c.97319A>C (p.Asp32440Ala)
c.79082A>C (p.Asp26361Ala)
c.68936A>C (p.Asp22979Ala)
2g.178530429C>ACA349406721TTN,TTN-AS1c.98482G>T (p.Asp32828Tyr)
c.79567G>T (p.Asp26523Tyr)
c.79366G>T (p.Asp26456Tyr)
c.78991G>T (p.Asp26331Tyr)
c.106186G>T (p.Asp35396Tyr)
c.101263G>T (p.Asp33755Tyr)
n.446+6793C>A
n.220-5303C>A
c.105283G>T (p.Asp35095Tyr)
c.79177G>T (p.Asp26393Tyr)
c.79036G>T (p.Asp26346Tyr)
c.105079G>T (p.Asp35027Tyr)
c.100477G>T (p.Asp33493Tyr)
c.100474G>T (p.Asp33492Tyr)
c.97516G>T (p.Asp32506Tyr)
c.79132G>T (p.Asp26378Tyr)
c.100627G>T (p.Asp33543Tyr)
c.100624G>T (p.Asp33542Tyr)
c.100057G>T (p.Asp33353Tyr)
c.97399G>T (p.Asp32467Tyr)
c.97318G>T (p.Asp32440Tyr)
c.79081G>T (p.Asp26361Tyr)
c.68935G>T (p.Asp22979Tyr)
2g.178530429C=CA1310514626TTN,TTN-AS1c.98482G= (p.Asp32828=)
c.79567G= (p.Asp26523=)
c.79366G= (p.Asp26456=)
c.78991G= (p.Asp26331=)
c.106186G= (p.Asp35396=)
c.101263G= (p.Asp33755=)
n.446+6793C=
n.220-5303C=
c.105283G= (p.Asp35095=)
c.79177G= (p.Asp26393=)
c.79036G= (p.Asp26346=)
c.105079G= (p.Asp35027=)
c.100477G= (p.Asp33493=)
c.100474G= (p.Asp33492=)
c.97516G= (p.Asp32506=)
c.79132G= (p.Asp26378=)
c.100627G= (p.Asp33543=)
c.100624G= (p.Asp33542=)
c.100057G= (p.Asp33353=)
c.97399G= (p.Asp32467=)
c.97318G= (p.Asp32440=)
c.79081G= (p.Asp26361=)
c.68935G= (p.Asp22979=)
2g.178530429C>GCA349406720TTN,TTN-AS1c.98482G>C (p.Asp32828His)
c.79567G>C (p.Asp26523His)
c.79366G>C (p.Asp26456His)
c.78991G>C (p.Asp26331His)
c.106186G>C (p.Asp35396His)
c.101263G>C (p.Asp33755His)
n.446+6793C>G
n.220-5303C>G
c.105283G>C (p.Asp35095His)
c.79177G>C (p.Asp26393His)
c.79036G>C (p.Asp26346His)
c.105079G>C (p.Asp35027His)
c.100477G>C (p.Asp33493His)
c.100474G>C (p.Asp33492His)
c.97516G>C (p.Asp32506His)
c.79132G>C (p.Asp26378His)
c.100627G>C (p.Asp33543His)
c.100624G>C (p.Asp33542His)
c.100057G>C (p.Asp33353His)
c.97399G>C (p.Asp32467His)
c.97318G>C (p.Asp32440His)
c.79081G>C (p.Asp26361His)
c.68935G>C (p.Asp22979His)
 dbSNP gnomAD v2
2g.178530429C>TCA349406718TTN,TTN-AS1c.98482G>A (p.Asp32828Asn)
c.79567G>A (p.Asp26523Asn)
c.79366G>A (p.Asp26456Asn)
c.78991G>A (p.Asp26331Asn)
c.106186G>A (p.Asp35396Asn)
c.101263G>A (p.Asp33755Asn)
n.446+6793C>T
n.220-5303C>T
c.105283G>A (p.Asp35095Asn)
c.79177G>A (p.Asp26393Asn)
c.79036G>A (p.Asp26346Asn)
c.105079G>A (p.Asp35027Asn)
c.100477G>A (p.Asp33493Asn)
c.100474G>A (p.Asp33492Asn)
c.97516G>A (p.Asp32506Asn)
c.79132G>A (p.Asp26378Asn)
c.100627G>A (p.Asp33543Asn)
c.100624G>A (p.Asp33542Asn)
c.100057G>A (p.Asp33353Asn)
c.97399G>A (p.Asp32467Asn)
c.97318G>A (p.Asp32440Asn)
c.79081G>A (p.Asp26361Asn)
c.68935G>A (p.Asp22979Asn)
 ClinVar gnomAD v4
2g.178530430T>ACA430235346TTN,TTN-AS1c.98481A>T (p.Ser32827=)
c.79566A>T (p.Ser26522=)
c.79365A>T (p.Ser26455=)
c.78990A>T (p.Ser26330=)
c.106185A>T (p.Ser35395=)
c.101262A>T (p.Ser33754=)
n.446+6794T>A
n.220-5302T>A
c.105282A>T (p.Ser35094=)
c.79176A>T (p.Ser26392=)
c.79035A>T (p.Ser26345=)
c.105078A>T (p.Ser35026=)
c.100476A>T (p.Ser33492=)
c.100473A>T (p.Ser33491=)
c.97515A>T (p.Ser32505=)
c.79131A>T (p.Ser26377=)
c.100626A>T (p.Ser33542=)
c.100623A>T (p.Ser33541=)
c.100056A>T (p.Ser33352=)
c.97398A>T (p.Ser32466=)
c.97317A>T (p.Ser32439=)
c.79080A>T (p.Ser26360=)
c.68934A>T (p.Ser22978=)
2g.178530430T>CCA430235347TTN,TTN-AS1c.98481A>G (p.Ser32827=)
c.79566A>G (p.Ser26522=)
c.79365A>G (p.Ser26455=)
c.78990A>G (p.Ser26330=)
c.106185A>G (p.Ser35395=)
c.101262A>G (p.Ser33754=)
n.446+6794T>C
n.220-5302T>C
c.105282A>G (p.Ser35094=)
c.79176A>G (p.Ser26392=)
c.79035A>G (p.Ser26345=)
c.105078A>G (p.Ser35026=)
c.100476A>G (p.Ser33492=)
c.100473A>G (p.Ser33491=)
c.97515A>G (p.Ser32505=)
c.79131A>G (p.Ser26377=)
c.100626A>G (p.Ser33542=)
c.100623A>G (p.Ser33541=)
c.100056A>G (p.Ser33352=)
c.97398A>G (p.Ser32466=)
c.97317A>G (p.Ser32439=)
c.79080A>G (p.Ser26360=)
c.68934A>G (p.Ser22978=)
2g.178530430T>GCA430235348TTN,TTN-AS1c.98481A>C (p.Ser32827=)
c.79566A>C (p.Ser26522=)
c.79365A>C (p.Ser26455=)
c.78990A>C (p.Ser26330=)
c.106185A>C (p.Ser35395=)
c.101262A>C (p.Ser33754=)
n.446+6794T>G
n.220-5302T>G
c.105282A>C (p.Ser35094=)
c.79176A>C (p.Ser26392=)
c.79035A>C (p.Ser26345=)
c.105078A>C (p.Ser35026=)
c.100476A>C (p.Ser33492=)
c.100473A>C (p.Ser33491=)
c.97515A>C (p.Ser32505=)
c.79131A>C (p.Ser26377=)
c.100626A>C (p.Ser33542=)
c.100623A>C (p.Ser33541=)
c.100056A>C (p.Ser33352=)
c.97398A>C (p.Ser32466=)
c.97317A>C (p.Ser32439=)
c.79080A>C (p.Ser26360=)
c.68934A>C (p.Ser22978=)
2g.178530431G>ACA1985151TTN,TTN-AS1c.98480C>T (p.Ser32827Leu)
c.79565C>T (p.Ser26522Leu)
c.79364C>T (p.Ser26455Leu)
c.78989C>T (p.Ser26330Leu)
c.106184C>T (p.Ser35395Leu)
c.101261C>T (p.Ser33754Leu)
n.446+6795G>A
n.220-5301G>A
c.105281C>T (p.Ser35094Leu)
c.79175C>T (p.Ser26392Leu)
c.79034C>T (p.Ser26345Leu)
c.105077C>T (p.Ser35026Leu)
c.100475C>T (p.Ser33492Leu)
c.100472C>T (p.Ser33491Leu)
c.97514C>T (p.Ser32505Leu)
c.79130C>T (p.Ser26377Leu)
c.100625C>T (p.Ser33542Leu)
c.100622C>T (p.Ser33541Leu)
c.100055C>T (p.Ser33352Leu)
c.97397C>T (p.Ser32466Leu)
c.97316C>T (p.Ser32439Leu)
c.79079C>T (p.Ser26360Leu)
c.68933C>T (p.Ser22978Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530431G>CCA349406726TTN,TTN-AS1c.98480C>G (p.Ser32827Ter)
c.79565C>G (p.Ser26522Ter)
c.79364C>G (p.Ser26455Ter)
c.78989C>G (p.Ser26330Ter)
c.106184C>G (p.Ser35395Ter)
c.101261C>G (p.Ser33754Ter)
n.446+6795G>C
n.220-5301G>C
c.105281C>G (p.Ser35094Ter)
c.79175C>G (p.Ser26392Ter)
c.79034C>G (p.Ser26345Ter)
c.105077C>G (p.Ser35026Ter)
c.100475C>G (p.Ser33492Ter)
c.100472C>G (p.Ser33491Ter)
c.97514C>G (p.Ser32505Ter)
c.79130C>G (p.Ser26377Ter)
c.100625C>G (p.Ser33542Ter)
c.100622C>G (p.Ser33541Ter)
c.100055C>G (p.Ser33352Ter)
c.97397C>G (p.Ser32466Ter)
c.97316C>G (p.Ser32439Ter)
c.79079C>G (p.Ser26360Ter)
c.68933C>G (p.Ser22978Ter)
2g.178530431G=CA1310514628TTN,TTN-AS1c.98480C= (p.Ser32827=)
c.79565C= (p.Ser26522=)
c.79364C= (p.Ser26455=)
c.78989C= (p.Ser26330=)
c.106184C= (p.Ser35395=)
c.101261C= (p.Ser33754=)
n.446+6795G=
n.220-5301G=
c.105281C= (p.Ser35094=)
c.79175C= (p.Ser26392=)
c.79034C= (p.Ser26345=)
c.105077C= (p.Ser35026=)
c.100475C= (p.Ser33492=)
c.100472C= (p.Ser33491=)
c.97514C= (p.Ser32505=)
c.79130C= (p.Ser26377=)
c.100625C= (p.Ser33542=)
c.100622C= (p.Ser33541=)
c.100055C= (p.Ser33352=)
c.97397C= (p.Ser32466=)
c.97316C= (p.Ser32439=)
c.79079C= (p.Ser26360=)
c.68933C= (p.Ser22978=)
2g.178530431G>TCA349406728TTN,TTN-AS1c.98480C>A (p.Ser32827Ter)
c.79565C>A (p.Ser26522Ter)
c.79364C>A (p.Ser26455Ter)
c.78989C>A (p.Ser26330Ter)
c.106184C>A (p.Ser35395Ter)
c.101261C>A (p.Ser33754Ter)
n.446+6795G>T
n.220-5301G>T
c.105281C>A (p.Ser35094Ter)
c.79175C>A (p.Ser26392Ter)
c.79034C>A (p.Ser26345Ter)
c.105077C>A (p.Ser35026Ter)
c.100475C>A (p.Ser33492Ter)
c.100472C>A (p.Ser33491Ter)
c.97514C>A (p.Ser32505Ter)
c.79130C>A (p.Ser26377Ter)
c.100625C>A (p.Ser33542Ter)
c.100622C>A (p.Ser33541Ter)
c.100055C>A (p.Ser33352Ter)
c.97397C>A (p.Ser32466Ter)
c.97316C>A (p.Ser32439Ter)
c.79079C>A (p.Ser26360Ter)
c.68933C>A (p.Ser22978Ter)
2g.178530432A>CCA349406730TTN,TTN-AS1c.98479T>G (p.Ser32827Ala)
c.79564T>G (p.Ser26522Ala)
c.79363T>G (p.Ser26455Ala)
c.78988T>G (p.Ser26330Ala)
c.106183T>G (p.Ser35395Ala)
c.101260T>G (p.Ser33754Ala)
n.446+6796A>C
n.220-5300A>C
c.105280T>G (p.Ser35094Ala)
c.79174T>G (p.Ser26392Ala)
c.79033T>G (p.Ser26345Ala)
c.105076T>G (p.Ser35026Ala)
c.100474T>G (p.Ser33492Ala)
c.100471T>G (p.Ser33491Ala)
c.97513T>G (p.Ser32505Ala)
c.79129T>G (p.Ser26377Ala)
c.100624T>G (p.Ser33542Ala)
c.100621T>G (p.Ser33541Ala)
c.100054T>G (p.Ser33352Ala)
c.97396T>G (p.Ser32466Ala)
c.97315T>G (p.Ser32439Ala)
c.79078T>G (p.Ser26360Ala)
c.68932T>G (p.Ser22978Ala)
2g.178530432A>GCA349406732TTN,TTN-AS1c.98479T>C (p.Ser32827Pro)
c.79564T>C (p.Ser26522Pro)
c.79363T>C (p.Ser26455Pro)
c.78988T>C (p.Ser26330Pro)
c.106183T>C (p.Ser35395Pro)
c.101260T>C (p.Ser33754Pro)
n.446+6796A>G
n.220-5300A>G
c.105280T>C (p.Ser35094Pro)
c.79174T>C (p.Ser26392Pro)
c.79033T>C (p.Ser26345Pro)
c.105076T>C (p.Ser35026Pro)
c.100474T>C (p.Ser33492Pro)
c.100471T>C (p.Ser33491Pro)
c.97513T>C (p.Ser32505Pro)
c.79129T>C (p.Ser26377Pro)
c.100624T>C (p.Ser33542Pro)
c.100621T>C (p.Ser33541Pro)
c.100054T>C (p.Ser33352Pro)
c.97396T>C (p.Ser32466Pro)
c.97315T>C (p.Ser32439Pro)
c.79078T>C (p.Ser26360Pro)
c.68932T>C (p.Ser22978Pro)
2g.178530432A>TCA349406734TTN,TTN-AS1c.98479T>A (p.Ser32827Thr)
c.79564T>A (p.Ser26522Thr)
c.79363T>A (p.Ser26455Thr)
c.78988T>A (p.Ser26330Thr)
c.106183T>A (p.Ser35395Thr)
c.101260T>A (p.Ser33754Thr)
n.446+6796A>T
n.220-5300A>T
c.105280T>A (p.Ser35094Thr)
c.79174T>A (p.Ser26392Thr)
c.79033T>A (p.Ser26345Thr)
c.105076T>A (p.Ser35026Thr)
c.100474T>A (p.Ser33492Thr)
c.100471T>A (p.Ser33491Thr)
c.97513T>A (p.Ser32505Thr)
c.79129T>A (p.Ser26377Thr)
c.100624T>A (p.Ser33542Thr)
c.100621T>A (p.Ser33541Thr)
c.100054T>A (p.Ser33352Thr)
c.97396T>A (p.Ser32466Thr)
c.97315T>A (p.Ser32439Thr)
c.79078T>A (p.Ser26360Thr)
c.68932T>A (p.Ser22978Thr)
2g.178530433T>ACA349406736TTN,TTN-AS1c.98478A>T (p.Lys32826Asn)
c.79563A>T (p.Lys26521Asn)
c.79362A>T (p.Lys26454Asn)
c.78987A>T (p.Lys26329Asn)
c.106182A>T (p.Lys35394Asn)
c.101259A>T (p.Lys33753Asn)
n.446+6797T>A
n.220-5299T>A
c.105279A>T (p.Lys35093Asn)
c.79173A>T (p.Lys26391Asn)
c.79032A>T (p.Lys26344Asn)
c.105075A>T (p.Lys35025Asn)
c.100473A>T (p.Lys33491Asn)
c.100470A>T (p.Lys33490Asn)
c.97512A>T (p.Lys32504Asn)
c.79128A>T (p.Lys26376Asn)
c.100623A>T (p.Lys33541Asn)
c.100620A>T (p.Lys33540Asn)
c.100053A>T (p.Lys33351Asn)
c.97395A>T (p.Lys32465Asn)
c.97314A>T (p.Lys32438Asn)
c.79077A>T (p.Lys26359Asn)
c.68931A>T (p.Lys22977Asn)
2g.178530433T>CCA430235354TTN,TTN-AS1c.98478A>G (p.Lys32826=)
c.79563A>G (p.Lys26521=)
c.79362A>G (p.Lys26454=)
c.78987A>G (p.Lys26329=)
c.106182A>G (p.Lys35394=)
c.101259A>G (p.Lys33753=)
n.446+6797T>C
n.220-5299T>C
c.105279A>G (p.Lys35093=)
c.79173A>G (p.Lys26391=)
c.79032A>G (p.Lys26344=)
c.105075A>G (p.Lys35025=)
c.100473A>G (p.Lys33491=)
c.100470A>G (p.Lys33490=)
c.97512A>G (p.Lys32504=)
c.79128A>G (p.Lys26376=)
c.100623A>G (p.Lys33541=)
c.100620A>G (p.Lys33540=)
c.100053A>G (p.Lys33351=)
c.97395A>G (p.Lys32465=)
c.97314A>G (p.Lys32438=)
c.79077A>G (p.Lys26359=)
c.68931A>G (p.Lys22977=)
 gnomAD v4
2g.178530433T>GCA349406739TTN,TTN-AS1c.98478A>C (p.Lys32826Asn)
c.79563A>C (p.Lys26521Asn)
c.79362A>C (p.Lys26454Asn)
c.78987A>C (p.Lys26329Asn)
c.106182A>C (p.Lys35394Asn)
c.101259A>C (p.Lys33753Asn)
n.446+6797T>G
n.220-5299T>G
c.105279A>C (p.Lys35093Asn)
c.79173A>C (p.Lys26391Asn)
c.79032A>C (p.Lys26344Asn)
c.105075A>C (p.Lys35025Asn)
c.100473A>C (p.Lys33491Asn)
c.100470A>C (p.Lys33490Asn)
c.97512A>C (p.Lys32504Asn)
c.79128A>C (p.Lys26376Asn)
c.100623A>C (p.Lys33541Asn)
c.100620A>C (p.Lys33540Asn)
c.100053A>C (p.Lys33351Asn)
c.97395A>C (p.Lys32465Asn)
c.97314A>C (p.Lys32438Asn)
c.79077A>C (p.Lys26359Asn)
c.68931A>C (p.Lys22977Asn)
2g.178530434T>ACA349406741TTN,TTN-AS1c.98477A>T (p.Lys32826Ile)
c.79562A>T (p.Lys26521Ile)
c.79361A>T (p.Lys26454Ile)
c.78986A>T (p.Lys26329Ile)
c.106181A>T (p.Lys35394Ile)
c.101258A>T (p.Lys33753Ile)
n.446+6798T>A
n.220-5298T>A
c.105278A>T (p.Lys35093Ile)
c.79172A>T (p.Lys26391Ile)
c.79031A>T (p.Lys26344Ile)
c.105074A>T (p.Lys35025Ile)
c.100472A>T (p.Lys33491Ile)
c.100469A>T (p.Lys33490Ile)
c.97511A>T (p.Lys32504Ile)
c.79127A>T (p.Lys26376Ile)
c.100622A>T (p.Lys33541Ile)
c.100619A>T (p.Lys33540Ile)
c.100052A>T (p.Lys33351Ile)
c.97394A>T (p.Lys32465Ile)
c.97313A>T (p.Lys32438Ile)
c.79076A>T (p.Lys26359Ile)
c.68930A>T (p.Lys22977Ile)
2g.178530434T>CCA349406744TTN,TTN-AS1c.98477A>G (p.Lys32826Arg)
c.79562A>G (p.Lys26521Arg)
c.79361A>G (p.Lys26454Arg)
c.78986A>G (p.Lys26329Arg)
c.106181A>G (p.Lys35394Arg)
c.101258A>G (p.Lys33753Arg)
n.446+6798T>C
n.220-5298T>C
c.105278A>G (p.Lys35093Arg)
c.79172A>G (p.Lys26391Arg)
c.79031A>G (p.Lys26344Arg)
c.105074A>G (p.Lys35025Arg)
c.100472A>G (p.Lys33491Arg)
c.100469A>G (p.Lys33490Arg)
c.97511A>G (p.Lys32504Arg)
c.79127A>G (p.Lys26376Arg)
c.100622A>G (p.Lys33541Arg)
c.100619A>G (p.Lys33540Arg)
c.100052A>G (p.Lys33351Arg)
c.97394A>G (p.Lys32465Arg)
c.97313A>G (p.Lys32438Arg)
c.79076A>G (p.Lys26359Arg)
c.68930A>G (p.Lys22977Arg)
2g.178530434T>GCA349406747TTN,TTN-AS1c.98477A>C (p.Lys32826Thr)
c.79562A>C (p.Lys26521Thr)
c.79361A>C (p.Lys26454Thr)
c.78986A>C (p.Lys26329Thr)
c.106181A>C (p.Lys35394Thr)
c.101258A>C (p.Lys33753Thr)
n.446+6798T>G
n.220-5298T>G
c.105278A>C (p.Lys35093Thr)
c.79172A>C (p.Lys26391Thr)
c.79031A>C (p.Lys26344Thr)
c.105074A>C (p.Lys35025Thr)
c.100472A>C (p.Lys33491Thr)
c.100469A>C (p.Lys33490Thr)
c.97511A>C (p.Lys32504Thr)
c.79127A>C (p.Lys26376Thr)
c.100622A>C (p.Lys33541Thr)
c.100619A>C (p.Lys33540Thr)
c.100052A>C (p.Lys33351Thr)
c.97394A>C (p.Lys32465Thr)
c.97313A>C (p.Lys32438Thr)
c.79076A>C (p.Lys26359Thr)
c.68930A>C (p.Lys22977Thr)
2g.178530435T>ACA349406749TTN,TTN-AS1c.98476A>T (p.Lys32826Ter)
c.79561A>T (p.Lys26521Ter)
c.79360A>T (p.Lys26454Ter)
c.78985A>T (p.Lys26329Ter)
c.106180A>T (p.Lys35394Ter)
c.101257A>T (p.Lys33753Ter)
n.446+6799T>A
n.220-5297T>A
c.105277A>T (p.Lys35093Ter)
c.79171A>T (p.Lys26391Ter)
c.79030A>T (p.Lys26344Ter)
c.105073A>T (p.Lys35025Ter)
c.100471A>T (p.Lys33491Ter)
c.100468A>T (p.Lys33490Ter)
c.97510A>T (p.Lys32504Ter)
c.79126A>T (p.Lys26376Ter)
c.100621A>T (p.Lys33541Ter)
c.100618A>T (p.Lys33540Ter)
c.100051A>T (p.Lys33351Ter)
c.97393A>T (p.Lys32465Ter)
c.97312A>T (p.Lys32438Ter)
c.79075A>T (p.Lys26359Ter)
c.68929A>T (p.Lys22977Ter)
2g.178530435T>CCA349406752TTN,TTN-AS1c.98476A>G (p.Lys32826Glu)
c.79561A>G (p.Lys26521Glu)
c.79360A>G (p.Lys26454Glu)
c.78985A>G (p.Lys26329Glu)
c.106180A>G (p.Lys35394Glu)
c.101257A>G (p.Lys33753Glu)
n.446+6799T>C
n.220-5297T>C
c.105277A>G (p.Lys35093Glu)
c.79171A>G (p.Lys26391Glu)
c.79030A>G (p.Lys26344Glu)
c.105073A>G (p.Lys35025Glu)
c.100471A>G (p.Lys33491Glu)
c.100468A>G (p.Lys33490Glu)
c.97510A>G (p.Lys32504Glu)
c.79126A>G (p.Lys26376Glu)
c.100621A>G (p.Lys33541Glu)
c.100618A>G (p.Lys33540Glu)
c.100051A>G (p.Lys33351Glu)
c.97393A>G (p.Lys32465Glu)
c.97312A>G (p.Lys32438Glu)
c.79075A>G (p.Lys26359Glu)
c.68929A>G (p.Lys22977Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530435T>GCA1985152TTN,TTN-AS1c.98476A>C (p.Lys32826Gln)
c.79561A>C (p.Lys26521Gln)
c.79360A>C (p.Lys26454Gln)
c.78985A>C (p.Lys26329Gln)
c.106180A>C (p.Lys35394Gln)
c.101257A>C (p.Lys33753Gln)
n.446+6799T>G
n.220-5297T>G
c.105277A>C (p.Lys35093Gln)
c.79171A>C (p.Lys26391Gln)
c.79030A>C (p.Lys26344Gln)
c.105073A>C (p.Lys35025Gln)
c.100471A>C (p.Lys33491Gln)
c.100468A>C (p.Lys33490Gln)
c.97510A>C (p.Lys32504Gln)
c.79126A>C (p.Lys26376Gln)
c.100621A>C (p.Lys33541Gln)
c.100618A>C (p.Lys33540Gln)
c.100051A>C (p.Lys33351Gln)
c.97393A>C (p.Lys32465Gln)
c.97312A>C (p.Lys32438Gln)
c.79075A>C (p.Lys26359Gln)
c.68929A>C (p.Lys22977Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530435T=CA1310514629TTN,TTN-AS1c.98476A= (p.Lys32826=)
c.79561A= (p.Lys26521=)
c.79360A= (p.Lys26454=)
c.78985A= (p.Lys26329=)
c.106180A= (p.Lys35394=)
c.101257A= (p.Lys33753=)
n.446+6799T=
n.220-5297T=
c.105277A= (p.Lys35093=)
c.79171A= (p.Lys26391=)
c.79030A= (p.Lys26344=)
c.105073A= (p.Lys35025=)
c.100471A= (p.Lys33491=)
c.100468A= (p.Lys33490=)
c.97510A= (p.Lys32504=)
c.79126A= (p.Lys26376=)
c.100621A= (p.Lys33541=)
c.100618A= (p.Lys33540=)
c.100051A= (p.Lys33351=)
c.97393A= (p.Lys32465=)
c.97312A= (p.Lys32438=)
c.79075A= (p.Lys26359=)
c.68929A= (p.Lys22977=)
2g.178530436C>ACA349406755TTN,TTN-AS1c.98475G>T (p.Lys32825Asn)
c.79560G>T (p.Lys26520Asn)
c.79359G>T (p.Lys26453Asn)
c.78984G>T (p.Lys26328Asn)
c.106179G>T (p.Lys35393Asn)
c.101256G>T (p.Lys33752Asn)
n.446+6800C>A
n.220-5296C>A
c.105276G>T (p.Lys35092Asn)
c.79170G>T (p.Lys26390Asn)
c.79029G>T (p.Lys26343Asn)
c.105072G>T (p.Lys35024Asn)
c.100470G>T (p.Lys33490Asn)
c.100467G>T (p.Lys33489Asn)
c.97509G>T (p.Lys32503Asn)
c.79125G>T (p.Lys26375Asn)
c.100620G>T (p.Lys33540Asn)
c.100617G>T (p.Lys33539Asn)
c.100050G>T (p.Lys33350Asn)
c.97392G>T (p.Lys32464Asn)
c.97311G>T (p.Lys32437Asn)
c.79074G>T (p.Lys26358Asn)
c.68928G>T (p.Lys22976Asn)
2g.178530436C=CA1310514631TTN,TTN-AS1c.98475G= (p.Lys32825=)
c.79560G= (p.Lys26520=)
c.79359G= (p.Lys26453=)
c.78984G= (p.Lys26328=)
c.106179G= (p.Lys35393=)
c.101256G= (p.Lys33752=)
n.446+6800C=
n.220-5296C=
c.105276G= (p.Lys35092=)
c.79170G= (p.Lys26390=)
c.79029G= (p.Lys26343=)
c.105072G= (p.Lys35024=)
c.100470G= (p.Lys33490=)
c.100467G= (p.Lys33489=)
c.97509G= (p.Lys32503=)
c.79125G= (p.Lys26375=)
c.100620G= (p.Lys33540=)
c.100617G= (p.Lys33539=)
c.100050G= (p.Lys33350=)
c.97392G= (p.Lys32464=)
c.97311G= (p.Lys32437=)
c.79074G= (p.Lys26358=)
c.68928G= (p.Lys22976=)
2g.178530436C>GCA349406757TTN,TTN-AS1c.98475G>C (p.Lys32825Asn)
c.79560G>C (p.Lys26520Asn)
c.79359G>C (p.Lys26453Asn)
c.78984G>C (p.Lys26328Asn)
c.106179G>C (p.Lys35393Asn)
c.101256G>C (p.Lys33752Asn)
n.446+6800C>G
n.220-5296C>G
c.105276G>C (p.Lys35092Asn)
c.79170G>C (p.Lys26390Asn)
c.79029G>C (p.Lys26343Asn)
c.105072G>C (p.Lys35024Asn)
c.100470G>C (p.Lys33490Asn)
c.100467G>C (p.Lys33489Asn)
c.97509G>C (p.Lys32503Asn)
c.79125G>C (p.Lys26375Asn)
c.100620G>C (p.Lys33540Asn)
c.100617G>C (p.Lys33539Asn)
c.100050G>C (p.Lys33350Asn)
c.97392G>C (p.Lys32464Asn)
c.97311G>C (p.Lys32437Asn)
c.79074G>C (p.Lys26358Asn)
c.68928G>C (p.Lys22976Asn)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178530436C>TCA430234987TTN,TTN-AS1c.98475G>A (p.Lys32825=)
c.79560G>A (p.Lys26520=)
c.79359G>A (p.Lys26453=)
c.78984G>A (p.Lys26328=)
c.106179G>A (p.Lys35393=)
c.101256G>A (p.Lys33752=)
n.446+6800C>T
n.220-5296C>T
c.105276G>A (p.Lys35092=)
c.79170G>A (p.Lys26390=)
c.79029G>A (p.Lys26343=)
c.105072G>A (p.Lys35024=)
c.100470G>A (p.Lys33490=)
c.100467G>A (p.Lys33489=)
c.97509G>A (p.Lys32503=)
c.79125G>A (p.Lys26375=)
c.100620G>A (p.Lys33540=)
c.100617G>A (p.Lys33539=)
c.100050G>A (p.Lys33350=)
c.97392G>A (p.Lys32464=)
c.97311G>A (p.Lys32437=)
c.79074G>A (p.Lys26358=)
c.68928G>A (p.Lys22976=)
2g.178530437T>ACA349406759TTN,TTN-AS1c.98474A>T (p.Lys32825Met)
c.79559A>T (p.Lys26520Met)
c.79358A>T (p.Lys26453Met)
c.78983A>T (p.Lys26328Met)
c.106178A>T (p.Lys35393Met)
c.101255A>T (p.Lys33752Met)
n.446+6801T>A
n.220-5295T>A
c.105275A>T (p.Lys35092Met)
c.79169A>T (p.Lys26390Met)
c.79028A>T (p.Lys26343Met)
c.105071A>T (p.Lys35024Met)
c.100469A>T (p.Lys33490Met)
c.100466A>T (p.Lys33489Met)
c.97508A>T (p.Lys32503Met)
c.79124A>T (p.Lys26375Met)
c.100619A>T (p.Lys33540Met)
c.100616A>T (p.Lys33539Met)
c.100049A>T (p.Lys33350Met)
c.97391A>T (p.Lys32464Met)
c.97310A>T (p.Lys32437Met)
c.79073A>T (p.Lys26358Met)
c.68927A>T (p.Lys22976Met)
2g.178530437T>CCA349406767TTN,TTN-AS1c.98474A>G (p.Lys32825Arg)
c.79559A>G (p.Lys26520Arg)
c.79358A>G (p.Lys26453Arg)
c.78983A>G (p.Lys26328Arg)
c.106178A>G (p.Lys35393Arg)
c.101255A>G (p.Lys33752Arg)
n.446+6801T>C
n.220-5295T>C
c.105275A>G (p.Lys35092Arg)
c.79169A>G (p.Lys26390Arg)
c.79028A>G (p.Lys26343Arg)
c.105071A>G (p.Lys35024Arg)
c.100469A>G (p.Lys33490Arg)
c.100466A>G (p.Lys33489Arg)
c.97508A>G (p.Lys32503Arg)
c.79124A>G (p.Lys26375Arg)
c.100619A>G (p.Lys33540Arg)
c.100616A>G (p.Lys33539Arg)
c.100049A>G (p.Lys33350Arg)
c.97391A>G (p.Lys32464Arg)
c.97310A>G (p.Lys32437Arg)
c.79073A>G (p.Lys26358Arg)
c.68927A>G (p.Lys22976Arg)
2g.178530437T>GCA349406769TTN,TTN-AS1c.98474A>C (p.Lys32825Thr)
c.79559A>C (p.Lys26520Thr)
c.79358A>C (p.Lys26453Thr)
c.78983A>C (p.Lys26328Thr)
c.106178A>C (p.Lys35393Thr)
c.101255A>C (p.Lys33752Thr)
n.446+6801T>G
n.220-5295T>G
c.105275A>C (p.Lys35092Thr)
c.79169A>C (p.Lys26390Thr)
c.79028A>C (p.Lys26343Thr)
c.105071A>C (p.Lys35024Thr)
c.100469A>C (p.Lys33490Thr)
c.100466A>C (p.Lys33489Thr)
c.97508A>C (p.Lys32503Thr)
c.79124A>C (p.Lys26375Thr)
c.100619A>C (p.Lys33540Thr)
c.100616A>C (p.Lys33539Thr)
c.100049A>C (p.Lys33350Thr)
c.97391A>C (p.Lys32464Thr)
c.97310A>C (p.Lys32437Thr)
c.79073A>C (p.Lys26358Thr)
c.68927A>C (p.Lys22976Thr)
2g.178530438T>ACA349406772TTN,TTN-AS1c.98473A>T (p.Lys32825Ter)
c.79558A>T (p.Lys26520Ter)
c.79357A>T (p.Lys26453Ter)
c.78982A>T (p.Lys26328Ter)
c.106177A>T (p.Lys35393Ter)
c.101254A>T (p.Lys33752Ter)
n.446+6802T>A
n.220-5294T>A
c.105274A>T (p.Lys35092Ter)
c.79168A>T (p.Lys26390Ter)
c.79027A>T (p.Lys26343Ter)
c.105070A>T (p.Lys35024Ter)
c.100468A>T (p.Lys33490Ter)
c.100465A>T (p.Lys33489Ter)
c.97507A>T (p.Lys32503Ter)
c.79123A>T (p.Lys26375Ter)
c.100618A>T (p.Lys33540Ter)
c.100615A>T (p.Lys33539Ter)
c.100048A>T (p.Lys33350Ter)
c.97390A>T (p.Lys32464Ter)
c.97309A>T (p.Lys32437Ter)
c.79072A>T (p.Lys26358Ter)
c.68926A>T (p.Lys22976Ter)
2g.178530438T>CCA349406774TTN,TTN-AS1c.98473A>G (p.Lys32825Glu)
c.79558A>G (p.Lys26520Glu)
c.79357A>G (p.Lys26453Glu)
c.78982A>G (p.Lys26328Glu)
c.106177A>G (p.Lys35393Glu)
c.101254A>G (p.Lys33752Glu)
n.446+6802T>C
n.220-5294T>C
c.105274A>G (p.Lys35092Glu)
c.79168A>G (p.Lys26390Glu)
c.79027A>G (p.Lys26343Glu)
c.105070A>G (p.Lys35024Glu)
c.100468A>G (p.Lys33490Glu)
c.100465A>G (p.Lys33489Glu)
c.97507A>G (p.Lys32503Glu)
c.79123A>G (p.Lys26375Glu)
c.100618A>G (p.Lys33540Glu)
c.100615A>G (p.Lys33539Glu)
c.100048A>G (p.Lys33350Glu)
c.97390A>G (p.Lys32464Glu)
c.97309A>G (p.Lys32437Glu)
c.79072A>G (p.Lys26358Glu)
c.68926A>G (p.Lys22976Glu)
2g.178530438T>GCA349406776TTN,TTN-AS1c.98473A>C (p.Lys32825Gln)
c.79558A>C (p.Lys26520Gln)
c.79357A>C (p.Lys26453Gln)
c.78982A>C (p.Lys26328Gln)
c.106177A>C (p.Lys35393Gln)
c.101254A>C (p.Lys33752Gln)
n.446+6802T>G
n.220-5294T>G
c.105274A>C (p.Lys35092Gln)
c.79168A>C (p.Lys26390Gln)
c.79027A>C (p.Lys26343Gln)
c.105070A>C (p.Lys35024Gln)
c.100468A>C (p.Lys33490Gln)
c.100465A>C (p.Lys33489Gln)
c.97507A>C (p.Lys32503Gln)
c.79123A>C (p.Lys26375Gln)
c.100618A>C (p.Lys33540Gln)
c.100615A>C (p.Lys33539Gln)
c.100048A>C (p.Lys33350Gln)
c.97390A>C (p.Lys32464Gln)
c.97309A>C (p.Lys32437Gln)
c.79072A>C (p.Lys26358Gln)
c.68926A>C (p.Lys22976Gln)
 gnomAD v4
2g.178530439A>CCA430234988TTN,TTN-AS1c.98472T>G (p.Thr32824=)
c.79557T>G (p.Thr26519=)
c.79356T>G (p.Thr26452=)
c.78981T>G (p.Thr26327=)
c.106176T>G (p.Thr35392=)
c.101253T>G (p.Thr33751=)
n.446+6803A>C
n.220-5293A>C
c.105273T>G (p.Thr35091=)
c.79167T>G (p.Thr26389=)
c.79026T>G (p.Thr26342=)
c.105069T>G (p.Thr35023=)
c.100467T>G (p.Thr33489=)
c.100464T>G (p.Thr33488=)
c.97506T>G (p.Thr32502=)
c.79122T>G (p.Thr26374=)
c.100617T>G (p.Thr33539=)
c.100614T>G (p.Thr33538=)
c.100047T>G (p.Thr33349=)
c.97389T>G (p.Thr32463=)
c.97308T>G (p.Thr32436=)
c.79071T>G (p.Thr26357=)
c.68925T>G (p.Thr22975=)
2g.178530439A>GCA430234989TTN,TTN-AS1c.98472T>C (p.Thr32824=)
c.79557T>C (p.Thr26519=)
c.79356T>C (p.Thr26452=)
c.78981T>C (p.Thr26327=)
c.106176T>C (p.Thr35392=)
c.101253T>C (p.Thr33751=)
n.446+6803A>G
n.220-5293A>G
c.105273T>C (p.Thr35091=)
c.79167T>C (p.Thr26389=)
c.79026T>C (p.Thr26342=)
c.105069T>C (p.Thr35023=)
c.100467T>C (p.Thr33489=)
c.100464T>C (p.Thr33488=)
c.97506T>C (p.Thr32502=)
c.79122T>C (p.Thr26374=)
c.100617T>C (p.Thr33539=)
c.100614T>C (p.Thr33538=)
c.100047T>C (p.Thr33349=)
c.97389T>C (p.Thr32463=)
c.97308T>C (p.Thr32436=)
c.79071T>C (p.Thr26357=)
c.68925T>C (p.Thr22975=)
 gnomAD v4
2g.178530439A>TCA430234990TTN,TTN-AS1c.98472T>A (p.Thr32824=)
c.79557T>A (p.Thr26519=)
c.79356T>A (p.Thr26452=)
c.78981T>A (p.Thr26327=)
c.106176T>A (p.Thr35392=)
c.101253T>A (p.Thr33751=)
n.446+6803A>T
n.220-5293A>T
c.105273T>A (p.Thr35091=)
c.79167T>A (p.Thr26389=)
c.79026T>A (p.Thr26342=)
c.105069T>A (p.Thr35023=)
c.100467T>A (p.Thr33489=)
c.100464T>A (p.Thr33488=)
c.97506T>A (p.Thr32502=)
c.79122T>A (p.Thr26374=)
c.100617T>A (p.Thr33539=)
c.100614T>A (p.Thr33538=)
c.100047T>A (p.Thr33349=)
c.97389T>A (p.Thr32463=)
c.97308T>A (p.Thr32436=)
c.79071T>A (p.Thr26357=)
c.68925T>A (p.Thr22975=)
2g.178530440G>ACA349406779TTN,TTN-AS1c.98471C>T (p.Thr32824Ile)
c.79556C>T (p.Thr26519Ile)
c.79355C>T (p.Thr26452Ile)
c.78980C>T (p.Thr26327Ile)
c.106175C>T (p.Thr35392Ile)
c.101252C>T (p.Thr33751Ile)
n.446+6804G>A
n.220-5292G>A
c.105272C>T (p.Thr35091Ile)
c.79166C>T (p.Thr26389Ile)
c.79025C>T (p.Thr26342Ile)
c.105068C>T (p.Thr35023Ile)
c.100466C>T (p.Thr33489Ile)
c.100463C>T (p.Thr33488Ile)
c.97505C>T (p.Thr32502Ile)
c.79121C>T (p.Thr26374Ile)
c.100616C>T (p.Thr33539Ile)
c.100613C>T (p.Thr33538Ile)
c.100046C>T (p.Thr33349Ile)
c.97388C>T (p.Thr32463Ile)
c.97307C>T (p.Thr32436Ile)
c.79070C>T (p.Thr26357Ile)
c.68924C>T (p.Thr22975Ile)
2g.178530440G>CCA349406781TTN,TTN-AS1c.98471C>G (p.Thr32824Ser)
c.79556C>G (p.Thr26519Ser)
c.79355C>G (p.Thr26452Ser)
c.78980C>G (p.Thr26327Ser)
c.106175C>G (p.Thr35392Ser)
c.101252C>G (p.Thr33751Ser)
n.446+6804G>C
n.220-5292G>C
c.105272C>G (p.Thr35091Ser)
c.79166C>G (p.Thr26389Ser)
c.79025C>G (p.Thr26342Ser)
c.105068C>G (p.Thr35023Ser)
c.100466C>G (p.Thr33489Ser)
c.100463C>G (p.Thr33488Ser)
c.97505C>G (p.Thr32502Ser)
c.79121C>G (p.Thr26374Ser)
c.100616C>G (p.Thr33539Ser)
c.100613C>G (p.Thr33538Ser)
c.100046C>G (p.Thr33349Ser)
c.97388C>G (p.Thr32463Ser)
c.97307C>G (p.Thr32436Ser)
c.79070C>G (p.Thr26357Ser)
c.68924C>G (p.Thr22975Ser)
 dbSNP
2g.178530440G=CA1310514633TTN,TTN-AS1c.98471C= (p.Thr32824=)
c.79556C= (p.Thr26519=)
c.79355C= (p.Thr26452=)
c.78980C= (p.Thr26327=)
c.106175C= (p.Thr35392=)
c.101252C= (p.Thr33751=)
n.446+6804G=
n.220-5292G=
c.105272C= (p.Thr35091=)
c.79166C= (p.Thr26389=)
c.79025C= (p.Thr26342=)
c.105068C= (p.Thr35023=)
c.100466C= (p.Thr33489=)
c.100463C= (p.Thr33488=)
c.97505C= (p.Thr32502=)
c.79121C= (p.Thr26374=)
c.100616C= (p.Thr33539=)
c.100613C= (p.Thr33538=)
c.100046C= (p.Thr33349=)
c.97388C= (p.Thr32463=)
c.97307C= (p.Thr32436=)
c.79070C= (p.Thr26357=)
c.68924C= (p.Thr22975=)
2g.178530440G>TCA349406783TTN,TTN-AS1c.98471C>A (p.Thr32824Asn)
c.79556C>A (p.Thr26519Asn)
c.79355C>A (p.Thr26452Asn)
c.78980C>A (p.Thr26327Asn)
c.106175C>A (p.Thr35392Asn)
c.101252C>A (p.Thr33751Asn)
n.446+6804G>T
n.220-5292G>T
c.105272C>A (p.Thr35091Asn)
c.79166C>A (p.Thr26389Asn)
c.79025C>A (p.Thr26342Asn)
c.105068C>A (p.Thr35023Asn)
c.100466C>A (p.Thr33489Asn)
c.100463C>A (p.Thr33488Asn)
c.97505C>A (p.Thr32502Asn)
c.79121C>A (p.Thr26374Asn)
c.100616C>A (p.Thr33539Asn)
c.100613C>A (p.Thr33538Asn)
c.100046C>A (p.Thr33349Asn)
c.97388C>A (p.Thr32463Asn)
c.97307C>A (p.Thr32436Asn)
c.79070C>A (p.Thr26357Asn)
c.68924C>A (p.Thr22975Asn)
 dbSNP
2g.178530441T>ACA349406785TTN,TTN-AS1c.98470A>T (p.Thr32824Ser)
c.79555A>T (p.Thr26519Ser)
c.79354A>T (p.Thr26452Ser)
c.78979A>T (p.Thr26327Ser)
c.106174A>T (p.Thr35392Ser)
c.101251A>T (p.Thr33751Ser)
n.446+6805T>A
n.220-5291T>A
c.105271A>T (p.Thr35091Ser)
c.79165A>T (p.Thr26389Ser)
c.79024A>T (p.Thr26342Ser)
c.105067A>T (p.Thr35023Ser)
c.100465A>T (p.Thr33489Ser)
c.100462A>T (p.Thr33488Ser)
c.97504A>T (p.Thr32502Ser)
c.79120A>T (p.Thr26374Ser)
c.100615A>T (p.Thr33539Ser)
c.100612A>T (p.Thr33538Ser)
c.100045A>T (p.Thr33349Ser)
c.97387A>T (p.Thr32463Ser)
c.97306A>T (p.Thr32436Ser)
c.79069A>T (p.Thr26357Ser)
c.68923A>T (p.Thr22975Ser)
2g.178530441T>CCA349406787TTN,TTN-AS1c.98470A>G (p.Thr32824Ala)
c.79555A>G (p.Thr26519Ala)
c.79354A>G (p.Thr26452Ala)
c.78979A>G (p.Thr26327Ala)
c.106174A>G (p.Thr35392Ala)
c.101251A>G (p.Thr33751Ala)
n.446+6805T>C
n.220-5291T>C
c.105271A>G (p.Thr35091Ala)
c.79165A>G (p.Thr26389Ala)
c.79024A>G (p.Thr26342Ala)
c.105067A>G (p.Thr35023Ala)
c.100465A>G (p.Thr33489Ala)
c.100462A>G (p.Thr33488Ala)
c.97504A>G (p.Thr32502Ala)
c.79120A>G (p.Thr26374Ala)
c.100615A>G (p.Thr33539Ala)
c.100612A>G (p.Thr33538Ala)
c.100045A>G (p.Thr33349Ala)
c.97387A>G (p.Thr32463Ala)
c.97306A>G (p.Thr32436Ala)
c.79069A>G (p.Thr26357Ala)
c.68923A>G (p.Thr22975Ala)
2g.178530441T>GCA349406789TTN,TTN-AS1c.98470A>C (p.Thr32824Pro)
c.79555A>C (p.Thr26519Pro)
c.79354A>C (p.Thr26452Pro)
c.78979A>C (p.Thr26327Pro)
c.106174A>C (p.Thr35392Pro)
c.101251A>C (p.Thr33751Pro)
n.446+6805T>G
n.220-5291T>G
c.105271A>C (p.Thr35091Pro)
c.79165A>C (p.Thr26389Pro)
c.79024A>C (p.Thr26342Pro)
c.105067A>C (p.Thr35023Pro)
c.100465A>C (p.Thr33489Pro)
c.100462A>C (p.Thr33488Pro)
c.97504A>C (p.Thr32502Pro)
c.79120A>C (p.Thr26374Pro)
c.100615A>C (p.Thr33539Pro)
c.100612A>C (p.Thr33538Pro)
c.100045A>C (p.Thr33349Pro)
c.97387A>C (p.Thr32463Pro)
c.97306A>C (p.Thr32436Pro)
c.79069A>C (p.Thr26357Pro)
c.68923A>C (p.Thr22975Pro)
2g.178530442T>ACA349406794TTN,TTN-AS1c.98469A>T (p.Glu32823Asp)
c.79554A>T (p.Glu26518Asp)
c.79353A>T (p.Glu26451Asp)
c.78978A>T (p.Glu26326Asp)
c.106173A>T (p.Glu35391Asp)
c.101250A>T (p.Glu33750Asp)
n.446+6806T>A
n.220-5290T>A
c.105270A>T (p.Glu35090Asp)
c.79164A>T (p.Glu26388Asp)
c.79023A>T (p.Glu26341Asp)
c.105066A>T (p.Glu35022Asp)
c.100464A>T (p.Glu33488Asp)
c.100461A>T (p.Glu33487Asp)
c.97503A>T (p.Glu32501Asp)
c.79119A>T (p.Glu26373Asp)
c.100614A>T (p.Glu33538Asp)
c.100611A>T (p.Glu33537Asp)
c.100044A>T (p.Glu33348Asp)
c.97386A>T (p.Glu32462Asp)
c.97305A>T (p.Glu32435Asp)
c.79068A>T (p.Glu26356Asp)
c.68922A>T (p.Glu22974Asp)
2g.178530442T>CCA430234992TTN,TTN-AS1c.98469A>G (p.Glu32823=)
c.79554A>G (p.Glu26518=)
c.79353A>G (p.Glu26451=)
c.78978A>G (p.Glu26326=)
c.106173A>G (p.Glu35391=)
c.101250A>G (p.Glu33750=)
n.446+6806T>C
n.220-5290T>C
c.105270A>G (p.Glu35090=)
c.79164A>G (p.Glu26388=)
c.79023A>G (p.Glu26341=)
c.105066A>G (p.Glu35022=)
c.100464A>G (p.Glu33488=)
c.100461A>G (p.Glu33487=)
c.97503A>G (p.Glu32501=)
c.79119A>G (p.Glu26373=)
c.100614A>G (p.Glu33538=)
c.100611A>G (p.Glu33537=)
c.100044A>G (p.Glu33348=)
c.97386A>G (p.Glu32462=)
c.97305A>G (p.Glu32435=)
c.79068A>G (p.Glu26356=)
c.68922A>G (p.Glu22974=)
2g.178530442T>GCA349406792TTN,TTN-AS1c.98469A>C (p.Glu32823Asp)
c.79554A>C (p.Glu26518Asp)
c.79353A>C (p.Glu26451Asp)
c.78978A>C (p.Glu26326Asp)
c.106173A>C (p.Glu35391Asp)
c.101250A>C (p.Glu33750Asp)
n.446+6806T>G
n.220-5290T>G
c.105270A>C (p.Glu35090Asp)
c.79164A>C (p.Glu26388Asp)
c.79023A>C (p.Glu26341Asp)
c.105066A>C (p.Glu35022Asp)
c.100464A>C (p.Glu33488Asp)
c.100461A>C (p.Glu33487Asp)
c.97503A>C (p.Glu32501Asp)
c.79119A>C (p.Glu26373Asp)
c.100614A>C (p.Glu33538Asp)
c.100611A>C (p.Glu33537Asp)
c.100044A>C (p.Glu33348Asp)
c.97386A>C (p.Glu32462Asp)
c.97305A>C (p.Glu32435Asp)
c.79068A>C (p.Glu26356Asp)
c.68922A>C (p.Glu22974Asp)
2g.178530443T>ACA349406797TTN,TTN-AS1c.98468A>T (p.Glu32823Val)
c.79553A>T (p.Glu26518Val)
c.79352A>T (p.Glu26451Val)
c.78977A>T (p.Glu26326Val)
c.106172A>T (p.Glu35391Val)
c.101249A>T (p.Glu33750Val)
n.446+6807T>A
n.220-5289T>A
c.105269A>T (p.Glu35090Val)
c.79163A>T (p.Glu26388Val)
c.79022A>T (p.Glu26341Val)
c.105065A>T (p.Glu35022Val)
c.100463A>T (p.Glu33488Val)
c.100460A>T (p.Glu33487Val)
c.97502A>T (p.Glu32501Val)
c.79118A>T (p.Glu26373Val)
c.100613A>T (p.Glu33538Val)
c.100610A>T (p.Glu33537Val)
c.100043A>T (p.Glu33348Val)
c.97385A>T (p.Glu32462Val)
c.97304A>T (p.Glu32435Val)
c.79067A>T (p.Glu26356Val)
c.68921A>T (p.Glu22974Val)
2g.178530443T>CCA349406798TTN,TTN-AS1c.98468A>G (p.Glu32823Gly)
c.79553A>G (p.Glu26518Gly)
c.79352A>G (p.Glu26451Gly)
c.78977A>G (p.Glu26326Gly)
c.106172A>G (p.Glu35391Gly)
c.101249A>G (p.Glu33750Gly)
n.446+6807T>C
n.220-5289T>C
c.105269A>G (p.Glu35090Gly)
c.79163A>G (p.Glu26388Gly)
c.79022A>G (p.Glu26341Gly)
c.105065A>G (p.Glu35022Gly)
c.100463A>G (p.Glu33488Gly)
c.100460A>G (p.Glu33487Gly)
c.97502A>G (p.Glu32501Gly)
c.79118A>G (p.Glu26373Gly)
c.100613A>G (p.Glu33538Gly)
c.100610A>G (p.Glu33537Gly)
c.100043A>G (p.Glu33348Gly)
c.97385A>G (p.Glu32462Gly)
c.97304A>G (p.Glu32435Gly)
c.79067A>G (p.Glu26356Gly)
c.68921A>G (p.Glu22974Gly)
2g.178530443T>GCA349406800TTN,TTN-AS1c.98468A>C (p.Glu32823Ala)
c.79553A>C (p.Glu26518Ala)
c.79352A>C (p.Glu26451Ala)
c.78977A>C (p.Glu26326Ala)
c.106172A>C (p.Glu35391Ala)
c.101249A>C (p.Glu33750Ala)
n.446+6807T>G
n.220-5289T>G
c.105269A>C (p.Glu35090Ala)
c.79163A>C (p.Glu26388Ala)
c.79022A>C (p.Glu26341Ala)
c.105065A>C (p.Glu35022Ala)
c.100463A>C (p.Glu33488Ala)
c.100460A>C (p.Glu33487Ala)
c.97502A>C (p.Glu32501Ala)
c.79118A>C (p.Glu26373Ala)
c.100613A>C (p.Glu33538Ala)
c.100610A>C (p.Glu33537Ala)
c.100043A>C (p.Glu33348Ala)
c.97385A>C (p.Glu32462Ala)
c.97304A>C (p.Glu32435Ala)
c.79067A>C (p.Glu26356Ala)
c.68921A>C (p.Glu22974Ala)
2g.178530444C>ACA349406803TTN,TTN-AS1c.98467G>T (p.Glu32823Ter)
c.79552G>T (p.Glu26518Ter)
c.79351G>T (p.Glu26451Ter)
c.78976G>T (p.Glu26326Ter)
c.106171G>T (p.Glu35391Ter)
c.101248G>T (p.Glu33750Ter)
n.446+6808C>A
n.220-5288C>A
c.105268G>T (p.Glu35090Ter)
c.79162G>T (p.Glu26388Ter)
c.79021G>T (p.Glu26341Ter)
c.105064G>T (p.Glu35022Ter)
c.100462G>T (p.Glu33488Ter)
c.100459G>T (p.Glu33487Ter)
c.97501G>T (p.Glu32501Ter)
c.79117G>T (p.Glu26373Ter)
c.100612G>T (p.Glu33538Ter)
c.100609G>T (p.Glu33537Ter)
c.100042G>T (p.Glu33348Ter)
c.97384G>T (p.Glu32462Ter)
c.97303G>T (p.Glu32435Ter)
c.79066G>T (p.Glu26356Ter)
c.68920G>T (p.Glu22974Ter)
2g.178530444C>GCA349406805TTN,TTN-AS1c.98467G>C (p.Glu32823Gln)
c.79552G>C (p.Glu26518Gln)
c.79351G>C (p.Glu26451Gln)
c.78976G>C (p.Glu26326Gln)
c.106171G>C (p.Glu35391Gln)
c.101248G>C (p.Glu33750Gln)
n.446+6808C>G
n.220-5288C>G
c.105268G>C (p.Glu35090Gln)
c.79162G>C (p.Glu26388Gln)
c.79021G>C (p.Glu26341Gln)
c.105064G>C (p.Glu35022Gln)
c.100462G>C (p.Glu33488Gln)
c.100459G>C (p.Glu33487Gln)
c.97501G>C (p.Glu32501Gln)
c.79117G>C (p.Glu26373Gln)
c.100612G>C (p.Glu33538Gln)
c.100609G>C (p.Glu33537Gln)
c.100042G>C (p.Glu33348Gln)
c.97384G>C (p.Glu32462Gln)
c.97303G>C (p.Glu32435Gln)
c.79066G>C (p.Glu26356Gln)
c.68920G>C (p.Glu22974Gln)
2g.178530444C>TCA349406807TTN,TTN-AS1c.98467G>A (p.Glu32823Lys)
c.79552G>A (p.Glu26518Lys)
c.79351G>A (p.Glu26451Lys)
c.78976G>A (p.Glu26326Lys)
c.106171G>A (p.Glu35391Lys)
c.101248G>A (p.Glu33750Lys)
n.446+6808C>T
n.220-5288C>T
c.105268G>A (p.Glu35090Lys)
c.79162G>A (p.Glu26388Lys)
c.79021G>A (p.Glu26341Lys)
c.105064G>A (p.Glu35022Lys)
c.100462G>A (p.Glu33488Lys)
c.100459G>A (p.Glu33487Lys)
c.97501G>A (p.Glu32501Lys)
c.79117G>A (p.Glu26373Lys)
c.100612G>A (p.Glu33538Lys)
c.100609G>A (p.Glu33537Lys)
c.100042G>A (p.Glu33348Lys)
c.97384G>A (p.Glu32462Lys)
c.97303G>A (p.Glu32435Lys)
c.79066G>A (p.Glu26356Lys)
c.68920G>A (p.Glu22974Lys)
2g.178530445T>ACA430234999TTN,TTN-AS1c.98466A>T (p.Ser32822=)
c.79551A>T (p.Ser26517=)
c.79350A>T (p.Ser26450=)
c.78975A>T (p.Ser26325=)
c.106170A>T (p.Ser35390=)
c.101247A>T (p.Ser33749=)
n.446+6809T>A
n.220-5287T>A
c.105267A>T (p.Ser35089=)
c.79161A>T (p.Ser26387=)
c.79020A>T (p.Ser26340=)
c.105063A>T (p.Ser35021=)
c.100461A>T (p.Ser33487=)
c.100458A>T (p.Ser33486=)
c.97500A>T (p.Ser32500=)
c.79116A>T (p.Ser26372=)
c.100611A>T (p.Ser33537=)
c.100608A>T (p.Ser33536=)
c.100041A>T (p.Ser33347=)
c.97383A>T (p.Ser32461=)
c.97302A>T (p.Ser32434=)
c.79065A>T (p.Ser26355=)
c.68919A>T (p.Ser22973=)
2g.178530445T>CCA430234998TTN,TTN-AS1c.98466A>G (p.Ser32822=)
c.79551A>G (p.Ser26517=)
c.79350A>G (p.Ser26450=)
c.78975A>G (p.Ser26325=)
c.106170A>G (p.Ser35390=)
c.101247A>G (p.Ser33749=)
n.446+6809T>C
n.220-5287T>C
c.105267A>G (p.Ser35089=)
c.79161A>G (p.Ser26387=)
c.79020A>G (p.Ser26340=)
c.105063A>G (p.Ser35021=)
c.100461A>G (p.Ser33487=)
c.100458A>G (p.Ser33486=)
c.97500A>G (p.Ser32500=)
c.79116A>G (p.Ser26372=)
c.100611A>G (p.Ser33537=)
c.100608A>G (p.Ser33536=)
c.100041A>G (p.Ser33347=)
c.97383A>G (p.Ser32461=)
c.97302A>G (p.Ser32434=)
c.79065A>G (p.Ser26355=)
c.68919A>G (p.Ser22973=)
2g.178530445T>GCA430234997TTN,TTN-AS1c.98466A>C (p.Ser32822=)
c.79551A>C (p.Ser26517=)
c.79350A>C (p.Ser26450=)
c.78975A>C (p.Ser26325=)
c.106170A>C (p.Ser35390=)
c.101247A>C (p.Ser33749=)
n.446+6809T>G
n.220-5287T>G
c.105267A>C (p.Ser35089=)
c.79161A>C (p.Ser26387=)
c.79020A>C (p.Ser26340=)
c.105063A>C (p.Ser35021=)
c.100461A>C (p.Ser33487=)
c.100458A>C (p.Ser33486=)
c.97500A>C (p.Ser32500=)
c.79116A>C (p.Ser26372=)
c.100611A>C (p.Ser33537=)
c.100608A>C (p.Ser33536=)
c.100041A>C (p.Ser33347=)
c.97383A>C (p.Ser32461=)
c.97302A>C (p.Ser32434=)
c.79065A>C (p.Ser26355=)
c.68919A>C (p.Ser22973=)
 dbSNP gnomAD v3 gnomAD v4
2g.178530445T=CA1310514636TTN,TTN-AS1c.98466A= (p.Ser32822=)
c.79551A= (p.Ser26517=)
c.79350A= (p.Ser26450=)
c.78975A= (p.Ser26325=)
c.106170A= (p.Ser35390=)
c.101247A= (p.Ser33749=)
n.446+6809T=
n.220-5287T=
c.105267A= (p.Ser35089=)
c.79161A= (p.Ser26387=)
c.79020A= (p.Ser26340=)
c.105063A= (p.Ser35021=)
c.100461A= (p.Ser33487=)
c.100458A= (p.Ser33486=)
c.97500A= (p.Ser32500=)
c.79116A= (p.Ser26372=)
c.100611A= (p.Ser33537=)
c.100608A= (p.Ser33536=)
c.100041A= (p.Ser33347=)
c.97383A= (p.Ser32461=)
c.97302A= (p.Ser32434=)
c.79065A= (p.Ser26355=)
c.68919A= (p.Ser22973=)
2g.178530446G>ACA1985153TTN,TTN-AS1c.98465C>T (p.Ser32822Leu)
c.79550C>T (p.Ser26517Leu)
c.79349C>T (p.Ser26450Leu)
c.78974C>T (p.Ser26325Leu)
c.106169C>T (p.Ser35390Leu)
c.101246C>T (p.Ser33749Leu)
n.446+6810G>A
n.220-5286G>A
c.105266C>T (p.Ser35089Leu)
c.79160C>T (p.Ser26387Leu)
c.79019C>T (p.Ser26340Leu)
c.105062C>T (p.Ser35021Leu)
c.100460C>T (p.Ser33487Leu)
c.100457C>T (p.Ser33486Leu)
c.97499C>T (p.Ser32500Leu)
c.79115C>T (p.Ser26372Leu)
c.100610C>T (p.Ser33537Leu)
c.100607C>T (p.Ser33536Leu)
c.100040C>T (p.Ser33347Leu)
c.97382C>T (p.Ser32461Leu)
c.97301C>T (p.Ser32434Leu)
c.79064C>T (p.Ser26355Leu)
c.68918C>T (p.Ser22973Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530446G>CCA349406811TTN,TTN-AS1c.98465C>G (p.Ser32822Ter)
c.79550C>G (p.Ser26517Ter)
c.79349C>G (p.Ser26450Ter)
c.78974C>G (p.Ser26325Ter)
c.106169C>G (p.Ser35390Ter)
c.101246C>G (p.Ser33749Ter)
n.446+6810G>C
n.220-5286G>C
c.105266C>G (p.Ser35089Ter)
c.79160C>G (p.Ser26387Ter)
c.79019C>G (p.Ser26340Ter)
c.105062C>G (p.Ser35021Ter)
c.100460C>G (p.Ser33487Ter)
c.100457C>G (p.Ser33486Ter)
c.97499C>G (p.Ser32500Ter)
c.79115C>G (p.Ser26372Ter)
c.100610C>G (p.Ser33537Ter)
c.100607C>G (p.Ser33536Ter)
c.100040C>G (p.Ser33347Ter)
c.97382C>G (p.Ser32461Ter)
c.97301C>G (p.Ser32434Ter)
c.79064C>G (p.Ser26355Ter)
c.68918C>G (p.Ser22973Ter)
2g.178530446G=CA1310514637TTN,TTN-AS1c.98465C= (p.Ser32822=)
c.79550C= (p.Ser26517=)
c.79349C= (p.Ser26450=)
c.78974C= (p.Ser26325=)
c.106169C= (p.Ser35390=)
c.101246C= (p.Ser33749=)
n.446+6810G=
n.220-5286G=
c.105266C= (p.Ser35089=)
c.79160C= (p.Ser26387=)
c.79019C= (p.Ser26340=)
c.105062C= (p.Ser35021=)
c.100460C= (p.Ser33487=)
c.100457C= (p.Ser33486=)
c.97499C= (p.Ser32500=)
c.79115C= (p.Ser26372=)
c.100610C= (p.Ser33537=)
c.100607C= (p.Ser33536=)
c.100040C= (p.Ser33347=)
c.97382C= (p.Ser32461=)
c.97301C= (p.Ser32434=)
c.79064C= (p.Ser26355=)
c.68918C= (p.Ser22973=)
2g.178530446G>TCA349406813TTN,TTN-AS1c.98465C>A (p.Ser32822Ter)
c.79550C>A (p.Ser26517Ter)
c.79349C>A (p.Ser26450Ter)
c.78974C>A (p.Ser26325Ter)
c.106169C>A (p.Ser35390Ter)
c.101246C>A (p.Ser33749Ter)
n.446+6810G>T
n.220-5286G>T
c.105266C>A (p.Ser35089Ter)
c.79160C>A (p.Ser26387Ter)
c.79019C>A (p.Ser26340Ter)
c.105062C>A (p.Ser35021Ter)
c.100460C>A (p.Ser33487Ter)
c.100457C>A (p.Ser33486Ter)
c.97499C>A (p.Ser32500Ter)
c.79115C>A (p.Ser26372Ter)
c.100610C>A (p.Ser33537Ter)
c.100607C>A (p.Ser33536Ter)
c.100040C>A (p.Ser33347Ter)
c.97382C>A (p.Ser32461Ter)
c.97301C>A (p.Ser32434Ter)
c.79064C>A (p.Ser26355Ter)
c.68918C>A (p.Ser22973Ter)
2g.178530447A>CCA349406816TTN,TTN-AS1c.98464T>G (p.Ser32822Ala)
c.79549T>G (p.Ser26517Ala)
c.79348T>G (p.Ser26450Ala)
c.78973T>G (p.Ser26325Ala)
c.106168T>G (p.Ser35390Ala)
c.101245T>G (p.Ser33749Ala)
n.446+6811A>C
n.220-5285A>C
c.105265T>G (p.Ser35089Ala)
c.79159T>G (p.Ser26387Ala)
c.79018T>G (p.Ser26340Ala)
c.105061T>G (p.Ser35021Ala)
c.100459T>G (p.Ser33487Ala)
c.100456T>G (p.Ser33486Ala)
c.97498T>G (p.Ser32500Ala)
c.79114T>G (p.Ser26372Ala)
c.100609T>G (p.Ser33537Ala)
c.100606T>G (p.Ser33536Ala)
c.100039T>G (p.Ser33347Ala)
c.97381T>G (p.Ser32461Ala)
c.97300T>G (p.Ser32434Ala)
c.79063T>G (p.Ser26355Ala)
c.68917T>G (p.Ser22973Ala)
2g.178530447A>GCA349406817TTN,TTN-AS1c.98464T>C (p.Ser32822Pro)
c.79549T>C (p.Ser26517Pro)
c.79348T>C (p.Ser26450Pro)
c.78973T>C (p.Ser26325Pro)
c.106168T>C (p.Ser35390Pro)
c.101245T>C (p.Ser33749Pro)
n.446+6811A>G
n.220-5285A>G
c.105265T>C (p.Ser35089Pro)
c.79159T>C (p.Ser26387Pro)
c.79018T>C (p.Ser26340Pro)
c.105061T>C (p.Ser35021Pro)
c.100459T>C (p.Ser33487Pro)
c.100456T>C (p.Ser33486Pro)
c.97498T>C (p.Ser32500Pro)
c.79114T>C (p.Ser26372Pro)
c.100609T>C (p.Ser33537Pro)
c.100606T>C (p.Ser33536Pro)
c.100039T>C (p.Ser33347Pro)
c.97381T>C (p.Ser32461Pro)
c.97300T>C (p.Ser32434Pro)
c.79063T>C (p.Ser26355Pro)
c.68917T>C (p.Ser22973Pro)
 gnomAD v4
2g.178530447A>TCA349406820TTN,TTN-AS1c.98464T>A (p.Ser32822Thr)
c.79549T>A (p.Ser26517Thr)
c.79348T>A (p.Ser26450Thr)
c.78973T>A (p.Ser26325Thr)
c.106168T>A (p.Ser35390Thr)
c.101245T>A (p.Ser33749Thr)
n.446+6811A>T
n.220-5285A>T
c.105265T>A (p.Ser35089Thr)
c.79159T>A (p.Ser26387Thr)
c.79018T>A (p.Ser26340Thr)
c.105061T>A (p.Ser35021Thr)
c.100459T>A (p.Ser33487Thr)
c.100456T>A (p.Ser33486Thr)
c.97498T>A (p.Ser32500Thr)
c.79114T>A (p.Ser26372Thr)
c.100609T>A (p.Ser33537Thr)
c.100606T>A (p.Ser33536Thr)
c.100039T>A (p.Ser33347Thr)
c.97381T>A (p.Ser32461Thr)
c.97300T>A (p.Ser32434Thr)
c.79063T>A (p.Ser26355Thr)
c.68917T>A (p.Ser22973Thr)
2g.178530448T>ACA430235000TTN,TTN-AS1c.98463A>T (p.Ile32821=)
c.79548A>T (p.Ile26516=)
c.79347A>T (p.Ile26449=)
c.78972A>T (p.Ile26324=)
c.106167A>T (p.Ile35389=)
c.101244A>T (p.Ile33748=)
n.446+6812T>A
n.220-5284T>A
c.105264A>T (p.Ile35088=)
c.79158A>T (p.Ile26386=)
c.79017A>T (p.Ile26339=)
c.105060A>T (p.Ile35020=)
c.100458A>T (p.Ile33486=)
c.100455A>T (p.Ile33485=)
c.97497A>T (p.Ile32499=)
c.79113A>T (p.Ile26371=)
c.100608A>T (p.Ile33536=)
c.100605A>T (p.Ile33535=)
c.100038A>T (p.Ile33346=)
c.97380A>T (p.Ile32460=)
c.97299A>T (p.Ile32433=)
c.79062A>T (p.Ile26354=)
c.68916A>T (p.Ile22972=)
2g.178530448T>CCA349406822TTN,TTN-AS1c.98463A>G (p.Ile32821Met)
c.79548A>G (p.Ile26516Met)
c.79347A>G (p.Ile26449Met)
c.78972A>G (p.Ile26324Met)
c.106167A>G (p.Ile35389Met)
c.101244A>G (p.Ile33748Met)
n.446+6812T>C
n.220-5284T>C
c.105264A>G (p.Ile35088Met)
c.79158A>G (p.Ile26386Met)
c.79017A>G (p.Ile26339Met)
c.105060A>G (p.Ile35020Met)
c.100458A>G (p.Ile33486Met)
c.100455A>G (p.Ile33485Met)
c.97497A>G (p.Ile32499Met)
c.79113A>G (p.Ile26371Met)
c.100608A>G (p.Ile33536Met)
c.100605A>G (p.Ile33535Met)
c.100038A>G (p.Ile33346Met)
c.97380A>G (p.Ile32460Met)
c.97299A>G (p.Ile32433Met)
c.79062A>G (p.Ile26354Met)
c.68916A>G (p.Ile22972Met)
2g.178530448T>GCA430235002TTN,TTN-AS1c.98463A>C (p.Ile32821=)
c.79548A>C (p.Ile26516=)
c.79347A>C (p.Ile26449=)
c.78972A>C (p.Ile26324=)
c.106167A>C (p.Ile35389=)
c.101244A>C (p.Ile33748=)
n.446+6812T>G
n.220-5284T>G
c.105264A>C (p.Ile35088=)
c.79158A>C (p.Ile26386=)
c.79017A>C (p.Ile26339=)
c.105060A>C (p.Ile35020=)
c.100458A>C (p.Ile33486=)
c.100455A>C (p.Ile33485=)
c.97497A>C (p.Ile32499=)
c.79113A>C (p.Ile26371=)
c.100608A>C (p.Ile33536=)
c.100605A>C (p.Ile33535=)
c.100038A>C (p.Ile33346=)
c.97380A>C (p.Ile32460=)
c.97299A>C (p.Ile32433=)
c.79062A>C (p.Ile26354=)
c.68916A>C (p.Ile22972=)
2g.178530449A>CCA349406829TTN,TTN-AS1c.98462T>G (p.Ile32821Arg)
c.79547T>G (p.Ile26516Arg)
c.79346T>G (p.Ile26449Arg)
c.78971T>G (p.Ile26324Arg)
c.106166T>G (p.Ile35389Arg)
c.101243T>G (p.Ile33748Arg)
n.446+6813A>C
n.220-5283A>C
c.105263T>G (p.Ile35088Arg)
c.79157T>G (p.Ile26386Arg)
c.79016T>G (p.Ile26339Arg)
c.105059T>G (p.Ile35020Arg)
c.100457T>G (p.Ile33486Arg)
c.100454T>G (p.Ile33485Arg)
c.97496T>G (p.Ile32499Arg)
c.79112T>G (p.Ile26371Arg)
c.100607T>G (p.Ile33536Arg)
c.100604T>G (p.Ile33535Arg)
c.100037T>G (p.Ile33346Arg)
c.97379T>G (p.Ile32460Arg)
c.97298T>G (p.Ile32433Arg)
c.79061T>G (p.Ile26354Arg)
c.68915T>G (p.Ile22972Arg)
2g.178530449A>GCA349406827TTN,TTN-AS1c.98462T>C (p.Ile32821Thr)
c.79547T>C (p.Ile26516Thr)
c.79346T>C (p.Ile26449Thr)
c.78971T>C (p.Ile26324Thr)
c.106166T>C (p.Ile35389Thr)
c.101243T>C (p.Ile33748Thr)
n.446+6813A>G
n.220-5283A>G
c.105263T>C (p.Ile35088Thr)
c.79157T>C (p.Ile26386Thr)
c.79016T>C (p.Ile26339Thr)
c.105059T>C (p.Ile35020Thr)
c.100457T>C (p.Ile33486Thr)
c.100454T>C (p.Ile33485Thr)
c.97496T>C (p.Ile32499Thr)
c.79112T>C (p.Ile26371Thr)
c.100607T>C (p.Ile33536Thr)
c.100604T>C (p.Ile33535Thr)
c.100037T>C (p.Ile33346Thr)
c.97379T>C (p.Ile32460Thr)
c.97298T>C (p.Ile32433Thr)
c.79061T>C (p.Ile26354Thr)
c.68915T>C (p.Ile22972Thr)
 gnomAD v4
2g.178530449A>TCA349406825TTN,TTN-AS1c.98462T>A (p.Ile32821Lys)
c.79547T>A (p.Ile26516Lys)
c.79346T>A (p.Ile26449Lys)
c.78971T>A (p.Ile26324Lys)
c.106166T>A (p.Ile35389Lys)
c.101243T>A (p.Ile33748Lys)
n.446+6813A>T
n.220-5283A>T
c.105263T>A (p.Ile35088Lys)
c.79157T>A (p.Ile26386Lys)
c.79016T>A (p.Ile26339Lys)
c.105059T>A (p.Ile35020Lys)
c.100457T>A (p.Ile33486Lys)
c.100454T>A (p.Ile33485Lys)
c.97496T>A (p.Ile32499Lys)
c.79112T>A (p.Ile26371Lys)
c.100607T>A (p.Ile33536Lys)
c.100604T>A (p.Ile33535Lys)
c.100037T>A (p.Ile33346Lys)
c.97379T>A (p.Ile32460Lys)
c.97298T>A (p.Ile32433Lys)
c.79061T>A (p.Ile26354Lys)
c.68915T>A (p.Ile22972Lys)
2g.178530450T>ACA349406831TTN,TTN-AS1c.98461A>T (p.Ile32821Leu)
c.79546A>T (p.Ile26516Leu)
c.79345A>T (p.Ile26449Leu)
c.78970A>T (p.Ile26324Leu)
c.106165A>T (p.Ile35389Leu)
c.101242A>T (p.Ile33748Leu)
n.446+6814T>A
n.220-5282T>A
c.105262A>T (p.Ile35088Leu)
c.79156A>T (p.Ile26386Leu)
c.79015A>T (p.Ile26339Leu)
c.105058A>T (p.Ile35020Leu)
c.100456A>T (p.Ile33486Leu)
c.100453A>T (p.Ile33485Leu)
c.97495A>T (p.Ile32499Leu)
c.79111A>T (p.Ile26371Leu)
c.100606A>T (p.Ile33536Leu)
c.100603A>T (p.Ile33535Leu)
c.100036A>T (p.Ile33346Leu)
c.97378A>T (p.Ile32460Leu)
c.97297A>T (p.Ile32433Leu)
c.79060A>T (p.Ile26354Leu)
c.68914A>T (p.Ile22972Leu)
2g.178530450T>CCA349406833TTN,TTN-AS1c.98461A>G (p.Ile32821Val)
c.79546A>G (p.Ile26516Val)
c.79345A>G (p.Ile26449Val)
c.78970A>G (p.Ile26324Val)
c.106165A>G (p.Ile35389Val)
c.101242A>G (p.Ile33748Val)
n.446+6814T>C
n.220-5282T>C
c.105262A>G (p.Ile35088Val)
c.79156A>G (p.Ile26386Val)
c.79015A>G (p.Ile26339Val)
c.105058A>G (p.Ile35020Val)
c.100456A>G (p.Ile33486Val)
c.100453A>G (p.Ile33485Val)
c.97495A>G (p.Ile32499Val)
c.79111A>G (p.Ile26371Val)
c.100606A>G (p.Ile33536Val)
c.100603A>G (p.Ile33535Val)
c.100036A>G (p.Ile33346Val)
c.97378A>G (p.Ile32460Val)
c.97297A>G (p.Ile32433Val)
c.79060A>G (p.Ile26354Val)
c.68914A>G (p.Ile22972Val)
 gnomAD v4
2g.178530450T>GCA349406835TTN,TTN-AS1c.98461A>C (p.Ile32821Leu)
c.79546A>C (p.Ile26516Leu)
c.79345A>C (p.Ile26449Leu)
c.78970A>C (p.Ile26324Leu)
c.106165A>C (p.Ile35389Leu)
c.101242A>C (p.Ile33748Leu)
n.446+6814T>G
n.220-5282T>G
c.105262A>C (p.Ile35088Leu)
c.79156A>C (p.Ile26386Leu)
c.79015A>C (p.Ile26339Leu)
c.105058A>C (p.Ile35020Leu)
c.100456A>C (p.Ile33486Leu)
c.100453A>C (p.Ile33485Leu)
c.97495A>C (p.Ile32499Leu)
c.79111A>C (p.Ile26371Leu)
c.100606A>C (p.Ile33536Leu)
c.100603A>C (p.Ile33535Leu)
c.100036A>C (p.Ile33346Leu)
c.97378A>C (p.Ile32460Leu)
c.97297A>C (p.Ile32433Leu)
c.79060A>C (p.Ile26354Leu)
c.68914A>C (p.Ile22972Leu)
2g.178530451T>ACA349406836TTN,TTN-AS1c.98460A>T (p.Lys32820Asn)
c.79545A>T (p.Lys26515Asn)
c.79344A>T (p.Lys26448Asn)
c.78969A>T (p.Lys26323Asn)
c.106164A>T (p.Lys35388Asn)
c.101241A>T (p.Lys33747Asn)
n.446+6815T>A
n.220-5281T>A
c.105261A>T (p.Lys35087Asn)
c.79155A>T (p.Lys26385Asn)
c.79014A>T (p.Lys26338Asn)
c.105057A>T (p.Lys35019Asn)
c.100455A>T (p.Lys33485Asn)
c.100452A>T (p.Lys33484Asn)
c.97494A>T (p.Lys32498Asn)
c.79110A>T (p.Lys26370Asn)
c.100605A>T (p.Lys33535Asn)
c.100602A>T (p.Lys33534Asn)
c.100035A>T (p.Lys33345Asn)
c.97377A>T (p.Lys32459Asn)
c.97296A>T (p.Lys32432Asn)
c.79059A>T (p.Lys26353Asn)
c.68913A>T (p.Lys22971Asn)
2g.178530451T>CCA430235007TTN,TTN-AS1c.98460A>G (p.Lys32820=)
c.79545A>G (p.Lys26515=)
c.79344A>G (p.Lys26448=)
c.78969A>G (p.Lys26323=)
c.106164A>G (p.Lys35388=)
c.101241A>G (p.Lys33747=)
n.446+6815T>C
n.220-5281T>C
c.105261A>G (p.Lys35087=)
c.79155A>G (p.Lys26385=)
c.79014A>G (p.Lys26338=)
c.105057A>G (p.Lys35019=)
c.100455A>G (p.Lys33485=)
c.100452A>G (p.Lys33484=)
c.97494A>G (p.Lys32498=)
c.79110A>G (p.Lys26370=)
c.100605A>G (p.Lys33535=)
c.100602A>G (p.Lys33534=)
c.100035A>G (p.Lys33345=)
c.97377A>G (p.Lys32459=)
c.97296A>G (p.Lys32432=)
c.79059A>G (p.Lys26353=)
c.68913A>G (p.Lys22971=)
2g.178530451T>GCA349406838TTN,TTN-AS1c.98460A>C (p.Lys32820Asn)
c.79545A>C (p.Lys26515Asn)
c.79344A>C (p.Lys26448Asn)
c.78969A>C (p.Lys26323Asn)
c.106164A>C (p.Lys35388Asn)
c.101241A>C (p.Lys33747Asn)
n.446+6815T>G
n.220-5281T>G
c.105261A>C (p.Lys35087Asn)
c.79155A>C (p.Lys26385Asn)
c.79014A>C (p.Lys26338Asn)
c.105057A>C (p.Lys35019Asn)
c.100455A>C (p.Lys33485Asn)
c.100452A>C (p.Lys33484Asn)
c.97494A>C (p.Lys32498Asn)
c.79110A>C (p.Lys26370Asn)
c.100605A>C (p.Lys33535Asn)
c.100602A>C (p.Lys33534Asn)
c.100035A>C (p.Lys33345Asn)
c.97377A>C (p.Lys32459Asn)
c.97296A>C (p.Lys32432Asn)
c.79059A>C (p.Lys26353Asn)
c.68913A>C (p.Lys22971Asn)
2g.178530452T>ACA349406841TTN,TTN-AS1c.98459A>T (p.Lys32820Ile)
c.79544A>T (p.Lys26515Ile)
c.79343A>T (p.Lys26448Ile)
c.78968A>T (p.Lys26323Ile)
c.106163A>T (p.Lys35388Ile)
c.101240A>T (p.Lys33747Ile)
n.446+6816T>A
n.220-5280T>A
c.105260A>T (p.Lys35087Ile)
c.79154A>T (p.Lys26385Ile)
c.79013A>T (p.Lys26338Ile)
c.105056A>T (p.Lys35019Ile)
c.100454A>T (p.Lys33485Ile)
c.100451A>T (p.Lys33484Ile)
c.97493A>T (p.Lys32498Ile)
c.79109A>T (p.Lys26370Ile)
c.100604A>T (p.Lys33535Ile)
c.100601A>T (p.Lys33534Ile)
c.100034A>T (p.Lys33345Ile)
c.97376A>T (p.Lys32459Ile)
c.97295A>T (p.Lys32432Ile)
c.79058A>T (p.Lys26353Ile)
c.68912A>T (p.Lys22971Ile)
2g.178530452T>CCA349406843TTN,TTN-AS1c.98459A>G (p.Lys32820Arg)
c.79544A>G (p.Lys26515Arg)
c.79343A>G (p.Lys26448Arg)
c.78968A>G (p.Lys26323Arg)
c.106163A>G (p.Lys35388Arg)
c.101240A>G (p.Lys33747Arg)
n.446+6816T>C
n.220-5280T>C
c.105260A>G (p.Lys35087Arg)
c.79154A>G (p.Lys26385Arg)
c.79013A>G (p.Lys26338Arg)
c.105056A>G (p.Lys35019Arg)
c.100454A>G (p.Lys33485Arg)
c.100451A>G (p.Lys33484Arg)
c.97493A>G (p.Lys32498Arg)
c.79109A>G (p.Lys26370Arg)
c.100604A>G (p.Lys33535Arg)
c.100601A>G (p.Lys33534Arg)
c.100034A>G (p.Lys33345Arg)
c.97376A>G (p.Lys32459Arg)
c.97295A>G (p.Lys32432Arg)
c.79058A>G (p.Lys26353Arg)
c.68912A>G (p.Lys22971Arg)
2g.178530452T>GCA349406845TTN,TTN-AS1c.98459A>C (p.Lys32820Thr)
c.79544A>C (p.Lys26515Thr)
c.79343A>C (p.Lys26448Thr)
c.78968A>C (p.Lys26323Thr)
c.106163A>C (p.Lys35388Thr)
c.101240A>C (p.Lys33747Thr)
n.446+6816T>G
n.220-5280T>G
c.105260A>C (p.Lys35087Thr)
c.79154A>C (p.Lys26385Thr)
c.79013A>C (p.Lys26338Thr)
c.105056A>C (p.Lys35019Thr)
c.100454A>C (p.Lys33485Thr)
c.100451A>C (p.Lys33484Thr)
c.97493A>C (p.Lys32498Thr)
c.79109A>C (p.Lys26370Thr)
c.100604A>C (p.Lys33535Thr)
c.100601A>C (p.Lys33534Thr)
c.100034A>C (p.Lys33345Thr)
c.97376A>C (p.Lys32459Thr)
c.97295A>C (p.Lys32432Thr)
c.79058A>C (p.Lys26353Thr)
c.68912A>C (p.Lys22971Thr)
2g.178530453T>ACA349406848TTN,TTN-AS1c.98458A>T (p.Lys32820Ter)
c.79543A>T (p.Lys26515Ter)
c.79342A>T (p.Lys26448Ter)
c.78967A>T (p.Lys26323Ter)
c.106162A>T (p.Lys35388Ter)
c.101239A>T (p.Lys33747Ter)
n.446+6817T>A
n.220-5279T>A
c.105259A>T (p.Lys35087Ter)
c.79153A>T (p.Lys26385Ter)
c.79012A>T (p.Lys26338Ter)
c.105055A>T (p.Lys35019Ter)
c.100453A>T (p.Lys33485Ter)
c.100450A>T (p.Lys33484Ter)
c.97492A>T (p.Lys32498Ter)
c.79108A>T (p.Lys26370Ter)
c.100603A>T (p.Lys33535Ter)
c.100600A>T (p.Lys33534Ter)
c.100033A>T (p.Lys33345Ter)
c.97375A>T (p.Lys32459Ter)
c.97294A>T (p.Lys32432Ter)
c.79057A>T (p.Lys26353Ter)
c.68911A>T (p.Lys22971Ter)
2g.178530453T>CCA349406850TTN,TTN-AS1c.98458A>G (p.Lys32820Glu)
c.79543A>G (p.Lys26515Glu)
c.79342A>G (p.Lys26448Glu)
c.78967A>G (p.Lys26323Glu)
c.106162A>G (p.Lys35388Glu)
c.101239A>G (p.Lys33747Glu)
n.446+6817T>C
n.220-5279T>C
c.105259A>G (p.Lys35087Glu)
c.79153A>G (p.Lys26385Glu)
c.79012A>G (p.Lys26338Glu)
c.105055A>G (p.Lys35019Glu)
c.100453A>G (p.Lys33485Glu)
c.100450A>G (p.Lys33484Glu)
c.97492A>G (p.Lys32498Glu)
c.79108A>G (p.Lys26370Glu)
c.100603A>G (p.Lys33535Glu)
c.100600A>G (p.Lys33534Glu)
c.100033A>G (p.Lys33345Glu)
c.97375A>G (p.Lys32459Glu)
c.97294A>G (p.Lys32432Glu)
c.79057A>G (p.Lys26353Glu)
c.68911A>G (p.Lys22971Glu)
 gnomAD v4
2g.178530453T>GCA349406852TTN,TTN-AS1c.98458A>C (p.Lys32820Gln)
c.79543A>C (p.Lys26515Gln)
c.79342A>C (p.Lys26448Gln)
c.78967A>C (p.Lys26323Gln)
c.106162A>C (p.Lys35388Gln)
c.101239A>C (p.Lys33747Gln)
n.446+6817T>G
n.220-5279T>G
c.105259A>C (p.Lys35087Gln)
c.79153A>C (p.Lys26385Gln)
c.79012A>C (p.Lys26338Gln)
c.105055A>C (p.Lys35019Gln)
c.100453A>C (p.Lys33485Gln)
c.100450A>C (p.Lys33484Gln)
c.97492A>C (p.Lys32498Gln)
c.79108A>C (p.Lys26370Gln)
c.100603A>C (p.Lys33535Gln)
c.100600A>C (p.Lys33534Gln)
c.100033A>C (p.Lys33345Gln)
c.97375A>C (p.Lys32459Gln)
c.97294A>C (p.Lys32432Gln)
c.79057A>C (p.Lys26353Gln)
c.68911A>C (p.Lys22971Gln)
2g.178530454T>ACA430235011TTN,TTN-AS1c.98457A>T (p.Ser32819=)
c.79542A>T (p.Ser26514=)
c.79341A>T (p.Ser26447=)
c.78966A>T (p.Ser26322=)
c.106161A>T (p.Ser35387=)
c.101238A>T (p.Ser33746=)
n.446+6818T>A
n.220-5278T>A
c.105258A>T (p.Ser35086=)
c.79152A>T (p.Ser26384=)
c.79011A>T (p.Ser26337=)
c.105054A>T (p.Ser35018=)
c.100452A>T (p.Ser33484=)
c.100449A>T (p.Ser33483=)
c.97491A>T (p.Ser32497=)
c.79107A>T (p.Ser26369=)
c.100602A>T (p.Ser33534=)
c.100599A>T (p.Ser33533=)
c.100032A>T (p.Ser33344=)
c.97374A>T (p.Ser32458=)
c.97293A>T (p.Ser32431=)
c.79056A>T (p.Ser26352=)
c.68910A>T (p.Ser22970=)
2g.178530454T>CCA430235012TTN,TTN-AS1c.98457A>G (p.Ser32819=)
c.79542A>G (p.Ser26514=)
c.79341A>G (p.Ser26447=)
c.78966A>G (p.Ser26322=)
c.106161A>G (p.Ser35387=)
c.101238A>G (p.Ser33746=)
n.446+6818T>C
n.220-5278T>C
c.105258A>G (p.Ser35086=)
c.79152A>G (p.Ser26384=)
c.79011A>G (p.Ser26337=)
c.105054A>G (p.Ser35018=)
c.100452A>G (p.Ser33484=)
c.100449A>G (p.Ser33483=)
c.97491A>G (p.Ser32497=)
c.79107A>G (p.Ser26369=)
c.100602A>G (p.Ser33534=)
c.100599A>G (p.Ser33533=)
c.100032A>G (p.Ser33344=)
c.97374A>G (p.Ser32458=)
c.97293A>G (p.Ser32431=)
c.79056A>G (p.Ser26352=)
c.68910A>G (p.Ser22970=)
2g.178530454T>GCA430235013TTN,TTN-AS1c.98457A>C (p.Ser32819=)
c.79542A>C (p.Ser26514=)
c.79341A>C (p.Ser26447=)
c.78966A>C (p.Ser26322=)
c.106161A>C (p.Ser35387=)
c.101238A>C (p.Ser33746=)
n.446+6818T>G
n.220-5278T>G
c.105258A>C (p.Ser35086=)
c.79152A>C (p.Ser26384=)
c.79011A>C (p.Ser26337=)
c.105054A>C (p.Ser35018=)
c.100452A>C (p.Ser33484=)
c.100449A>C (p.Ser33483=)
c.97491A>C (p.Ser32497=)
c.79107A>C (p.Ser26369=)
c.100602A>C (p.Ser33534=)
c.100599A>C (p.Ser33533=)
c.100032A>C (p.Ser33344=)
c.97374A>C (p.Ser32458=)
c.97293A>C (p.Ser32431=)
c.79056A>C (p.Ser26352=)
c.68910A>C (p.Ser22970=)
2g.178530455G>ACA349406854TTN,TTN-AS1c.98456C>T (p.Ser32819Leu)
c.79541C>T (p.Ser26514Leu)
c.79340C>T (p.Ser26447Leu)
c.78965C>T (p.Ser26322Leu)
c.106160C>T (p.Ser35387Leu)
c.101237C>T (p.Ser33746Leu)
n.446+6819G>A
n.220-5277G>A
c.105257C>T (p.Ser35086Leu)
c.79151C>T (p.Ser26384Leu)
c.79010C>T (p.Ser26337Leu)
c.105053C>T (p.Ser35018Leu)
c.100451C>T (p.Ser33484Leu)
c.100448C>T (p.Ser33483Leu)
c.97490C>T (p.Ser32497Leu)
c.79106C>T (p.Ser26369Leu)
c.100601C>T (p.Ser33534Leu)
c.100598C>T (p.Ser33533Leu)
c.100031C>T (p.Ser33344Leu)
c.97373C>T (p.Ser32458Leu)
c.97292C>T (p.Ser32431Leu)
c.79055C>T (p.Ser26352Leu)
c.68909C>T (p.Ser22970Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178530455G>CCA349406856TTN,TTN-AS1c.98456C>G (p.Ser32819Ter)
c.79541C>G (p.Ser26514Ter)
c.79340C>G (p.Ser26447Ter)
c.78965C>G (p.Ser26322Ter)
c.106160C>G (p.Ser35387Ter)
c.101237C>G (p.Ser33746Ter)
n.446+6819G>C
n.220-5277G>C
c.105257C>G (p.Ser35086Ter)
c.79151C>G (p.Ser26384Ter)
c.79010C>G (p.Ser26337Ter)
c.105053C>G (p.Ser35018Ter)
c.100451C>G (p.Ser33484Ter)
c.100448C>G (p.Ser33483Ter)
c.97490C>G (p.Ser32497Ter)
c.79106C>G (p.Ser26369Ter)
c.100601C>G (p.Ser33534Ter)
c.100598C>G (p.Ser33533Ter)
c.100031C>G (p.Ser33344Ter)
c.97373C>G (p.Ser32458Ter)
c.97292C>G (p.Ser32431Ter)
c.79055C>G (p.Ser26352Ter)
c.68909C>G (p.Ser22970Ter)
 ClinVar dbSNP
2g.178530455G>TCA349406858TTN,TTN-AS1c.98456C>A (p.Ser32819Ter)
c.79541C>A (p.Ser26514Ter)
c.79340C>A (p.Ser26447Ter)
c.78965C>A (p.Ser26322Ter)
c.106160C>A (p.Ser35387Ter)
c.101237C>A (p.Ser33746Ter)
n.446+6819G>T
n.220-5277G>T
c.105257C>A (p.Ser35086Ter)
c.79151C>A (p.Ser26384Ter)
c.79010C>A (p.Ser26337Ter)
c.105053C>A (p.Ser35018Ter)
c.100451C>A (p.Ser33484Ter)
c.100448C>A (p.Ser33483Ter)
c.97490C>A (p.Ser32497Ter)
c.79106C>A (p.Ser26369Ter)
c.100601C>A (p.Ser33534Ter)
c.100598C>A (p.Ser33533Ter)
c.100031C>A (p.Ser33344Ter)
c.97373C>A (p.Ser32458Ter)
c.97292C>A (p.Ser32431Ter)
c.79055C>A (p.Ser26352Ter)
c.68909C>A (p.Ser22970Ter)
2g.178530456A=CA1310514639TTN,TTN-AS1c.98455T= (p.Ser32819=)
c.79540T= (p.Ser26514=)
c.79339T= (p.Ser26447=)
c.78964T= (p.Ser26322=)
c.106159T= (p.Ser35387=)
c.101236T= (p.Ser33746=)
n.446+6820A=
n.220-5276A=
c.105256T= (p.Ser35086=)
c.79150T= (p.Ser26384=)
c.79009T= (p.Ser26337=)
c.105052T= (p.Ser35018=)
c.100450T= (p.Ser33484=)
c.100447T= (p.Ser33483=)
c.97489T= (p.Ser32497=)
c.79105T= (p.Ser26369=)
c.100600T= (p.Ser33534=)
c.100597T= (p.Ser33533=)
c.100030T= (p.Ser33344=)
c.97372T= (p.Ser32458=)
c.97291T= (p.Ser32431=)
c.79054T= (p.Ser26352=)
c.68908T= (p.Ser22970=)
2g.178530456A>CCA349406865TTN,TTN-AS1c.98455T>G (p.Ser32819Ala)
c.79540T>G (p.Ser26514Ala)
c.79339T>G (p.Ser26447Ala)
c.78964T>G (p.Ser26322Ala)
c.106159T>G (p.Ser35387Ala)
c.101236T>G (p.Ser33746Ala)
n.446+6820A>C
n.220-5276A>C
c.105256T>G (p.Ser35086Ala)
c.79150T>G (p.Ser26384Ala)
c.79009T>G (p.Ser26337Ala)
c.105052T>G (p.Ser35018Ala)
c.100450T>G (p.Ser33484Ala)
c.100447T>G (p.Ser33483Ala)
c.97489T>G (p.Ser32497Ala)
c.79105T>G (p.Ser26369Ala)
c.100600T>G (p.Ser33534Ala)
c.100597T>G (p.Ser33533Ala)
c.100030T>G (p.Ser33344Ala)
c.97372T>G (p.Ser32458Ala)
c.97291T>G (p.Ser32431Ala)
c.79054T>G (p.Ser26352Ala)
c.68908T>G (p.Ser22970Ala)
2g.178530456A>GCA349406863TTN,TTN-AS1c.98455T>C (p.Ser32819Pro)
c.79540T>C (p.Ser26514Pro)
c.79339T>C (p.Ser26447Pro)
c.78964T>C (p.Ser26322Pro)
c.106159T>C (p.Ser35387Pro)
c.101236T>C (p.Ser33746Pro)
n.446+6820A>G
n.220-5276A>G
c.105256T>C (p.Ser35086Pro)
c.79150T>C (p.Ser26384Pro)
c.79009T>C (p.Ser26337Pro)
c.105052T>C (p.Ser35018Pro)
c.100450T>C (p.Ser33484Pro)
c.100447T>C (p.Ser33483Pro)
c.97489T>C (p.Ser32497Pro)
c.79105T>C (p.Ser26369Pro)
c.100600T>C (p.Ser33534Pro)
c.100597T>C (p.Ser33533Pro)
c.100030T>C (p.Ser33344Pro)
c.97372T>C (p.Ser32458Pro)
c.97291T>C (p.Ser32431Pro)
c.79054T>C (p.Ser26352Pro)
c.68908T>C (p.Ser22970Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178530456A>TCA349406861TTN,TTN-AS1c.98455T>A (p.Ser32819Thr)
c.79540T>A (p.Ser26514Thr)
c.79339T>A (p.Ser26447Thr)
c.78964T>A (p.Ser26322Thr)
c.106159T>A (p.Ser35387Thr)
c.101236T>A (p.Ser33746Thr)
n.446+6820A>T
n.220-5276A>T
c.105256T>A (p.Ser35086Thr)
c.79150T>A (p.Ser26384Thr)
c.79009T>A (p.Ser26337Thr)
c.105052T>A (p.Ser35018Thr)
c.100450T>A (p.Ser33484Thr)
c.100447T>A (p.Ser33483Thr)
c.97489T>A (p.Ser32497Thr)
c.79105T>A (p.Ser26369Thr)
c.100600T>A (p.Ser33534Thr)
c.100597T>A (p.Ser33533Thr)
c.100030T>A (p.Ser33344Thr)
c.97372T>A (p.Ser32458Thr)
c.97291T>A (p.Ser32431Thr)
c.79054T>A (p.Ser26352Thr)
c.68908T>A (p.Ser22970Thr)
2g.178530457T>ACA430235018TTN,TTN-AS1c.98454A>T (p.Val32818=)
c.79539A>T (p.Val26513=)
c.79338A>T (p.Val26446=)
c.78963A>T (p.Val26321=)
c.106158A>T (p.Val35386=)
c.101235A>T (p.Val33745=)
n.446+6821T>A
n.220-5275T>A
c.105255A>T (p.Val35085=)
c.79149A>T (p.Val26383=)
c.79008A>T (p.Val26336=)
c.105051A>T (p.Val35017=)
c.100449A>T (p.Val33483=)
c.100446A>T (p.Val33482=)
c.97488A>T (p.Val32496=)
c.79104A>T (p.Val26368=)
c.100599A>T (p.Val33533=)
c.100596A>T (p.Val33532=)
c.100029A>T (p.Val33343=)
c.97371A>T (p.Val32457=)
c.97290A>T (p.Val32430=)
c.79053A>T (p.Val26351=)
c.68907A>T (p.Val22969=)
2g.178530457T>CCA430235019TTN,TTN-AS1c.98454A>G (p.Val32818=)
c.79539A>G (p.Val26513=)
c.79338A>G (p.Val26446=)
c.78963A>G (p.Val26321=)
c.106158A>G (p.Val35386=)
c.101235A>G (p.Val33745=)
n.446+6821T>C
n.220-5275T>C
c.105255A>G (p.Val35085=)
c.79149A>G (p.Val26383=)
c.79008A>G (p.Val26336=)
c.105051A>G (p.Val35017=)
c.100449A>G (p.Val33483=)
c.100446A>G (p.Val33482=)
c.97488A>G (p.Val32496=)
c.79104A>G (p.Val26368=)
c.100599A>G (p.Val33533=)
c.100596A>G (p.Val33532=)
c.100029A>G (p.Val33343=)
c.97371A>G (p.Val32457=)
c.97290A>G (p.Val32430=)
c.79053A>G (p.Val26351=)
c.68907A>G (p.Val22969=)
2g.178530457T>GCA430235020TTN,TTN-AS1c.98454A>C (p.Val32818=)
c.79539A>C (p.Val26513=)
c.79338A>C (p.Val26446=)
c.78963A>C (p.Val26321=)
c.106158A>C (p.Val35386=)
c.101235A>C (p.Val33745=)
n.446+6821T>G
n.220-5275T>G
c.105255A>C (p.Val35085=)
c.79149A>C (p.Val26383=)
c.79008A>C (p.Val26336=)
c.105051A>C (p.Val35017=)
c.100449A>C (p.Val33483=)
c.100446A>C (p.Val33482=)
c.97488A>C (p.Val32496=)
c.79104A>C (p.Val26368=)
c.100599A>C (p.Val33533=)
c.100596A>C (p.Val33532=)
c.100029A>C (p.Val33343=)
c.97371A>C (p.Val32457=)
c.97290A>C (p.Val32430=)
c.79053A>C (p.Val26351=)
c.68907A>C (p.Val22969=)
2g.178530458A>CCA349406867TTN,TTN-AS1c.98453T>G (p.Val32818Gly)
c.79538T>G (p.Val26513Gly)
c.79337T>G (p.Val26446Gly)
c.78962T>G (p.Val26321Gly)
c.106157T>G (p.Val35386Gly)
c.101234T>G (p.Val33745Gly)
n.446+6822A>C
n.220-5274A>C
c.105254T>G (p.Val35085Gly)
c.79148T>G (p.Val26383Gly)
c.79007T>G (p.Val26336Gly)
c.105050T>G (p.Val35017Gly)
c.100448T>G (p.Val33483Gly)
c.100445T>G (p.Val33482Gly)
c.97487T>G (p.Val32496Gly)
c.79103T>G (p.Val26368Gly)
c.100598T>G (p.Val33533Gly)
c.100595T>G (p.Val33532Gly)
c.100028T>G (p.Val33343Gly)
c.97370T>G (p.Val32457Gly)
c.97289T>G (p.Val32430Gly)
c.79052T>G (p.Val26351Gly)
c.68906T>G (p.Val22969Gly)
2g.178530458A>GCA349406868TTN,TTN-AS1c.98453T>C (p.Val32818Ala)
c.79538T>C (p.Val26513Ala)
c.79337T>C (p.Val26446Ala)
c.78962T>C (p.Val26321Ala)
c.106157T>C (p.Val35386Ala)
c.101234T>C (p.Val33745Ala)
n.446+6822A>G
n.220-5274A>G
c.105254T>C (p.Val35085Ala)
c.79148T>C (p.Val26383Ala)
c.79007T>C (p.Val26336Ala)
c.105050T>C (p.Val35017Ala)
c.100448T>C (p.Val33483Ala)
c.100445T>C (p.Val33482Ala)
c.97487T>C (p.Val32496Ala)
c.79103T>C (p.Val26368Ala)
c.100598T>C (p.Val33533Ala)
c.100595T>C (p.Val33532Ala)
c.100028T>C (p.Val33343Ala)
c.97370T>C (p.Val32457Ala)
c.97289T>C (p.Val32430Ala)
c.79052T>C (p.Val26351Ala)
c.68906T>C (p.Val22969Ala)
2g.178530458A>TCA349406870TTN,TTN-AS1c.98453T>A (p.Val32818Glu)
c.79538T>A (p.Val26513Glu)
c.79337T>A (p.Val26446Glu)
c.78962T>A (p.Val26321Glu)
c.106157T>A (p.Val35386Glu)
c.101234T>A (p.Val33745Glu)
n.446+6822A>T
n.220-5274A>T
c.105254T>A (p.Val35085Glu)
c.79148T>A (p.Val26383Glu)
c.79007T>A (p.Val26336Glu)
c.105050T>A (p.Val35017Glu)
c.100448T>A (p.Val33483Glu)
c.100445T>A (p.Val33482Glu)
c.97487T>A (p.Val32496Glu)
c.79103T>A (p.Val26368Glu)
c.100598T>A (p.Val33533Glu)
c.100595T>A (p.Val33532Glu)
c.100028T>A (p.Val33343Glu)
c.97370T>A (p.Val32457Glu)
c.97289T>A (p.Val32430Glu)
c.79052T>A (p.Val26351Glu)
c.68906T>A (p.Val22969Glu)
2g.178530458dupCA2695196988TTN,TTN-AS1c.98453dup (p.Ser32819IlefsTer7)
c.79538dup (p.Ser26514IlefsTer7)
c.79337dup (p.Ser26447IlefsTer7)
c.78962dup (p.Ser26322IlefsTer7)
c.106157dup (p.Ser35387IlefsTer7)
c.101234dup (p.Ser33746IlefsTer7)
n.446+6822dup
n.220-5274dup
c.105254dup (p.Ser35086IlefsTer7)
c.79148dup (p.Ser26384IlefsTer7)
c.79007dup (p.Ser26337IlefsTer7)
c.105050dup (p.Ser35018IlefsTer7)
c.100448dup (p.Ser33484IlefsTer7)
c.100445dup (p.Ser33483IlefsTer7)
c.97487dup (p.Ser32497IlefsTer7)
c.79103dup (p.Ser26369IlefsTer7)
c.100598dup (p.Ser33534IlefsTer7)
c.100595dup (p.Ser33533IlefsTer7)
c.100028dup (p.Ser33344IlefsTer7)
c.97370dup (p.Ser32458IlefsTer7)
c.97289dup (p.Ser32431IlefsTer7)
c.79052dup (p.Ser26352IlefsTer7)
c.68906dup (p.Ser22970IlefsTer7)
 ClinVar
2g.178530459C>ACA1985154TTN,TTN-AS1c.98452G>T (p.Val32818Leu)
c.79537G>T (p.Val26513Leu)
c.79336G>T (p.Val26446Leu)
c.78961G>T (p.Val26321Leu)
c.106156G>T (p.Val35386Leu)
c.101233G>T (p.Val33745Leu)
n.446+6823C>A
n.220-5273C>A
c.105253G>T (p.Val35085Leu)
c.79147G>T (p.Val26383Leu)
c.79006G>T (p.Val26336Leu)
c.105049G>T (p.Val35017Leu)
c.100447G>T (p.Val33483Leu)
c.100444G>T (p.Val33482Leu)
c.97486G>T (p.Val32496Leu)
c.79102G>T (p.Val26368Leu)
c.100597G>T (p.Val33533Leu)
c.100594G>T (p.Val33532Leu)
c.100027G>T (p.Val33343Leu)
c.97369G>T (p.Val32457Leu)
c.97288G>T (p.Val32430Leu)
c.79051G>T (p.Val26351Leu)
c.68905G>T (p.Val22969Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530459C=CA1310514641TTN,TTN-AS1c.98452G= (p.Val32818=)
c.79537G= (p.Val26513=)
c.79336G= (p.Val26446=)
c.78961G= (p.Val26321=)
c.106156G= (p.Val35386=)
c.101233G= (p.Val33745=)
n.446+6823C=
n.220-5273C=
c.105253G= (p.Val35085=)
c.79147G= (p.Val26383=)
c.79006G= (p.Val26336=)
c.105049G= (p.Val35017=)
c.100447G= (p.Val33483=)
c.100444G= (p.Val33482=)
c.97486G= (p.Val32496=)
c.79102G= (p.Val26368=)
c.100597G= (p.Val33533=)
c.100594G= (p.Val33532=)
c.100027G= (p.Val33343=)
c.97369G= (p.Val32457=)
c.97288G= (p.Val32430=)
c.79051G= (p.Val26351=)
c.68905G= (p.Val22969=)
2g.178530459C>GCA349406875TTN,TTN-AS1c.98452G>C (p.Val32818Leu)
c.79537G>C (p.Val26513Leu)
c.79336G>C (p.Val26446Leu)
c.78961G>C (p.Val26321Leu)
c.106156G>C (p.Val35386Leu)
c.101233G>C (p.Val33745Leu)
n.446+6823C>G
n.220-5273C>G
c.105253G>C (p.Val35085Leu)
c.79147G>C (p.Val26383Leu)
c.79006G>C (p.Val26336Leu)
c.105049G>C (p.Val35017Leu)
c.100447G>C (p.Val33483Leu)
c.100444G>C (p.Val33482Leu)
c.97486G>C (p.Val32496Leu)
c.79102G>C (p.Val26368Leu)
c.100597G>C (p.Val33533Leu)
c.100594G>C (p.Val33532Leu)
c.100027G>C (p.Val33343Leu)
c.97369G>C (p.Val32457Leu)
c.97288G>C (p.Val32430Leu)
c.79051G>C (p.Val26351Leu)
c.68905G>C (p.Val22969Leu)
2g.178530459C>TCA349406877TTN,TTN-AS1c.98452G>A (p.Val32818Ile)
c.79537G>A (p.Val26513Ile)
c.79336G>A (p.Val26446Ile)
c.78961G>A (p.Val26321Ile)
c.106156G>A (p.Val35386Ile)
c.101233G>A (p.Val33745Ile)
n.446+6823C>T
n.220-5273C>T
c.105253G>A (p.Val35085Ile)
c.79147G>A (p.Val26383Ile)
c.79006G>A (p.Val26336Ile)
c.105049G>A (p.Val35017Ile)
c.100447G>A (p.Val33483Ile)
c.100444G>A (p.Val33482Ile)
c.97486G>A (p.Val32496Ile)
c.79102G>A (p.Val26368Ile)
c.100597G>A (p.Val33533Ile)
c.100594G>A (p.Val33532Ile)
c.100027G>A (p.Val33343Ile)
c.97369G>A (p.Val32457Ile)
c.97288G>A (p.Val32430Ile)
c.79051G>A (p.Val26351Ile)
c.68905G>A (p.Val22969Ile)
2g.178530460C>ACA349406881TTN,TTN-AS1c.98451G>T (p.Lys32817Asn)
c.79536G>T (p.Lys26512Asn)
c.79335G>T (p.Lys26445Asn)
c.78960G>T (p.Lys26320Asn)
c.106155G>T (p.Lys35385Asn)
c.101232G>T (p.Lys33744Asn)
n.446+6824C>A
n.220-5272C>A
c.105252G>T (p.Lys35084Asn)
c.79146G>T (p.Lys26382Asn)
c.79005G>T (p.Lys26335Asn)
c.105048G>T (p.Lys35016Asn)
c.100446G>T (p.Lys33482Asn)
c.100443G>T (p.Lys33481Asn)
c.97485G>T (p.Lys32495Asn)
c.79101G>T (p.Lys26367Asn)
c.100596G>T (p.Lys33532Asn)
c.100593G>T (p.Lys33531Asn)
c.100026G>T (p.Lys33342Asn)
c.97368G>T (p.Lys32456Asn)
c.97287G>T (p.Lys32429Asn)
c.79050G>T (p.Lys26350Asn)
c.68904G>T (p.Lys22968Asn)
2g.178530460C=CA1310514643TTN,TTN-AS1c.98451G= (p.Lys32817=)
c.79536G= (p.Lys26512=)
c.79335G= (p.Lys26445=)
c.78960G= (p.Lys26320=)
c.106155G= (p.Lys35385=)
c.101232G= (p.Lys33744=)
n.446+6824C=
n.220-5272C=
c.105252G= (p.Lys35084=)
c.79146G= (p.Lys26382=)
c.79005G= (p.Lys26335=)
c.105048G= (p.Lys35016=)
c.100446G= (p.Lys33482=)
c.100443G= (p.Lys33481=)
c.97485G= (p.Lys32495=)
c.79101G= (p.Lys26367=)
c.100596G= (p.Lys33532=)
c.100593G= (p.Lys33531=)
c.100026G= (p.Lys33342=)
c.97368G= (p.Lys32456=)
c.97287G= (p.Lys32429=)
c.79050G= (p.Lys26350=)
c.68904G= (p.Lys22968=)
2g.178530460C>GCA349406879TTN,TTN-AS1c.98451G>C (p.Lys32817Asn)
c.79536G>C (p.Lys26512Asn)
c.79335G>C (p.Lys26445Asn)
c.78960G>C (p.Lys26320Asn)
c.106155G>C (p.Lys35385Asn)
c.101232G>C (p.Lys33744Asn)
n.446+6824C>G
n.220-5272C>G
c.105252G>C (p.Lys35084Asn)
c.79146G>C (p.Lys26382Asn)
c.79005G>C (p.Lys26335Asn)
c.105048G>C (p.Lys35016Asn)
c.100446G>C (p.Lys33482Asn)
c.100443G>C (p.Lys33481Asn)
c.97485G>C (p.Lys32495Asn)
c.79101G>C (p.Lys26367Asn)
c.100596G>C (p.Lys33532Asn)
c.100593G>C (p.Lys33531Asn)
c.100026G>C (p.Lys33342Asn)
c.97368G>C (p.Lys32456Asn)
c.97287G>C (p.Lys32429Asn)
c.79050G>C (p.Lys26350Asn)
c.68904G>C (p.Lys22968Asn)
 dbSNP
2g.178530460C>TCA1985155TTN,TTN-AS1c.98451G>A (p.Lys32817=)
c.79536G>A (p.Lys26512=)
c.79335G>A (p.Lys26445=)
c.78960G>A (p.Lys26320=)
c.106155G>A (p.Lys35385=)
c.101232G>A (p.Lys33744=)
n.446+6824C>T
n.220-5272C>T
c.105252G>A (p.Lys35084=)
c.79146G>A (p.Lys26382=)
c.79005G>A (p.Lys26335=)
c.105048G>A (p.Lys35016=)
c.100446G>A (p.Lys33482=)
c.100443G>A (p.Lys33481=)
c.97485G>A (p.Lys32495=)
c.79101G>A (p.Lys26367=)
c.100596G>A (p.Lys33532=)
c.100593G>A (p.Lys33531=)
c.100026G>A (p.Lys33342=)
c.97368G>A (p.Lys32456=)
c.97287G>A (p.Lys32429=)
c.79050G>A (p.Lys26350=)
c.68904G>A (p.Lys22968=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530461T>ACA349406884TTN,TTN-AS1c.98450A>T (p.Lys32817Met)
c.79535A>T (p.Lys26512Met)
c.79334A>T (p.Lys26445Met)
c.78959A>T (p.Lys26320Met)
c.106154A>T (p.Lys35385Met)
c.101231A>T (p.Lys33744Met)
n.446+6825T>A
n.220-5271T>A
c.105251A>T (p.Lys35084Met)
c.79145A>T (p.Lys26382Met)
c.79004A>T (p.Lys26335Met)
c.105047A>T (p.Lys35016Met)
c.100445A>T (p.Lys33482Met)
c.100442A>T (p.Lys33481Met)
c.97484A>T (p.Lys32495Met)
c.79100A>T (p.Lys26367Met)
c.100595A>T (p.Lys33532Met)
c.100592A>T (p.Lys33531Met)
c.100025A>T (p.Lys33342Met)
c.97367A>T (p.Lys32456Met)
c.97286A>T (p.Lys32429Met)
c.79049A>T (p.Lys26350Met)
c.68903A>T (p.Lys22968Met)
 COSMIC COSMIC COSMIC COSMIC
2g.178530461T>CCA349406886TTN,TTN-AS1c.98450A>G (p.Lys32817Arg)
c.79535A>G (p.Lys26512Arg)
c.79334A>G (p.Lys26445Arg)
c.78959A>G (p.Lys26320Arg)
c.106154A>G (p.Lys35385Arg)
c.101231A>G (p.Lys33744Arg)
n.446+6825T>C
n.220-5271T>C
c.105251A>G (p.Lys35084Arg)
c.79145A>G (p.Lys26382Arg)
c.79004A>G (p.Lys26335Arg)
c.105047A>G (p.Lys35016Arg)
c.100445A>G (p.Lys33482Arg)
c.100442A>G (p.Lys33481Arg)
c.97484A>G (p.Lys32495Arg)
c.79100A>G (p.Lys26367Arg)
c.100595A>G (p.Lys33532Arg)
c.100592A>G (p.Lys33531Arg)
c.100025A>G (p.Lys33342Arg)
c.97367A>G (p.Lys32456Arg)
c.97286A>G (p.Lys32429Arg)
c.79049A>G (p.Lys26350Arg)
c.68903A>G (p.Lys22968Arg)
2g.178530461T>GCA1985156TTN,TTN-AS1c.98450A>C (p.Lys32817Thr)
c.79535A>C (p.Lys26512Thr)
c.79334A>C (p.Lys26445Thr)
c.78959A>C (p.Lys26320Thr)
c.106154A>C (p.Lys35385Thr)
c.101231A>C (p.Lys33744Thr)
n.446+6825T>G
n.220-5271T>G
c.105251A>C (p.Lys35084Thr)
c.79145A>C (p.Lys26382Thr)
c.79004A>C (p.Lys26335Thr)
c.105047A>C (p.Lys35016Thr)
c.100445A>C (p.Lys33482Thr)
c.100442A>C (p.Lys33481Thr)
c.97484A>C (p.Lys32495Thr)
c.79100A>C (p.Lys26367Thr)
c.100595A>C (p.Lys33532Thr)
c.100592A>C (p.Lys33531Thr)
c.100025A>C (p.Lys33342Thr)
c.97367A>C (p.Lys32456Thr)
c.97286A>C (p.Lys32429Thr)
c.79049A>C (p.Lys26350Thr)
c.68903A>C (p.Lys22968Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530461T=CA1310514644TTN,TTN-AS1c.98450A= (p.Lys32817=)
c.79535A= (p.Lys26512=)
c.79334A= (p.Lys26445=)
c.78959A= (p.Lys26320=)
c.106154A= (p.Lys35385=)
c.101231A= (p.Lys33744=)
n.446+6825T=
n.220-5271T=
c.105251A= (p.Lys35084=)
c.79145A= (p.Lys26382=)
c.79004A= (p.Lys26335=)
c.105047A= (p.Lys35016=)
c.100445A= (p.Lys33482=)
c.100442A= (p.Lys33481=)
c.97484A= (p.Lys32495=)
c.79100A= (p.Lys26367=)
c.100595A= (p.Lys33532=)
c.100592A= (p.Lys33531=)
c.100025A= (p.Lys33342=)
c.97367A= (p.Lys32456=)
c.97286A= (p.Lys32429=)
c.79049A= (p.Lys26350=)
c.68903A= (p.Lys22968=)
2g.178530462T>ACA349406889TTN,TTN-AS1c.98449A>T (p.Lys32817Ter)
c.79534A>T (p.Lys26512Ter)
c.79333A>T (p.Lys26445Ter)
c.78958A>T (p.Lys26320Ter)
c.106153A>T (p.Lys35385Ter)
c.101230A>T (p.Lys33744Ter)
n.446+6826T>A
n.220-5270T>A
c.105250A>T (p.Lys35084Ter)
c.79144A>T (p.Lys26382Ter)
c.79003A>T (p.Lys26335Ter)
c.105046A>T (p.Lys35016Ter)
c.100444A>T (p.Lys33482Ter)
c.100441A>T (p.Lys33481Ter)
c.97483A>T (p.Lys32495Ter)
c.79099A>T (p.Lys26367Ter)
c.100594A>T (p.Lys33532Ter)
c.100591A>T (p.Lys33531Ter)
c.100024A>T (p.Lys33342Ter)
c.97366A>T (p.Lys32456Ter)
c.97285A>T (p.Lys32429Ter)
c.79048A>T (p.Lys26350Ter)
c.68902A>T (p.Lys22968Ter)
2g.178530462T>CCA349406891TTN,TTN-AS1c.98449A>G (p.Lys32817Glu)
c.79534A>G (p.Lys26512Glu)
c.79333A>G (p.Lys26445Glu)
c.78958A>G (p.Lys26320Glu)
c.106153A>G (p.Lys35385Glu)
c.101230A>G (p.Lys33744Glu)
n.446+6826T>C
n.220-5270T>C
c.105250A>G (p.Lys35084Glu)
c.79144A>G (p.Lys26382Glu)
c.79003A>G (p.Lys26335Glu)
c.105046A>G (p.Lys35016Glu)
c.100444A>G (p.Lys33482Glu)
c.100441A>G (p.Lys33481Glu)
c.97483A>G (p.Lys32495Glu)
c.79099A>G (p.Lys26367Glu)
c.100594A>G (p.Lys33532Glu)
c.100591A>G (p.Lys33531Glu)
c.100024A>G (p.Lys33342Glu)
c.97366A>G (p.Lys32456Glu)
c.97285A>G (p.Lys32429Glu)
c.79048A>G (p.Lys26350Glu)
c.68902A>G (p.Lys22968Glu)
2g.178530462T>GCA349406893TTN,TTN-AS1c.98449A>C (p.Lys32817Gln)
c.79534A>C (p.Lys26512Gln)
c.79333A>C (p.Lys26445Gln)
c.78958A>C (p.Lys26320Gln)
c.106153A>C (p.Lys35385Gln)
c.101230A>C (p.Lys33744Gln)
n.446+6826T>G
n.220-5270T>G
c.105250A>C (p.Lys35084Gln)
c.79144A>C (p.Lys26382Gln)
c.79003A>C (p.Lys26335Gln)
c.105046A>C (p.Lys35016Gln)
c.100444A>C (p.Lys33482Gln)
c.100441A>C (p.Lys33481Gln)
c.97483A>C (p.Lys32495Gln)
c.79099A>C (p.Lys26367Gln)
c.100594A>C (p.Lys33532Gln)
c.100591A>C (p.Lys33531Gln)
c.100024A>C (p.Lys33342Gln)
c.97366A>C (p.Lys32456Gln)
c.97285A>C (p.Lys32429Gln)
c.79048A>C (p.Lys26350Gln)
c.68902A>C (p.Lys22968Gln)
2g.178530463C>ACA349406896TTN,TTN-AS1c.98448G>T (p.Glu32816Asp)
c.79533G>T (p.Glu26511Asp)
c.79332G>T (p.Glu26444Asp)
c.78957G>T (p.Glu26319Asp)
c.106152G>T (p.Glu35384Asp)
c.101229G>T (p.Glu33743Asp)
n.446+6827C>A
n.220-5269C>A
c.105249G>T (p.Glu35083Asp)
c.79143G>T (p.Glu26381Asp)
c.79002G>T (p.Glu26334Asp)
c.105045G>T (p.Glu35015Asp)
c.100443G>T (p.Glu33481Asp)
c.100440G>T (p.Glu33480Asp)
c.97482G>T (p.Glu32494Asp)
c.79098G>T (p.Glu26366Asp)
c.100593G>T (p.Glu33531Asp)
c.100590G>T (p.Glu33530Asp)
c.100023G>T (p.Glu33341Asp)
c.97365G>T (p.Glu32455Asp)
c.97284G>T (p.Glu32428Asp)
c.79047G>T (p.Glu26349Asp)
c.68901G>T (p.Glu22967Asp)
2g.178530463C=CA1310514645TTN,TTN-AS1c.98448G= (p.Glu32816=)
c.79533G= (p.Glu26511=)
c.79332G= (p.Glu26444=)
c.78957G= (p.Glu26319=)
c.106152G= (p.Glu35384=)
c.101229G= (p.Glu33743=)
n.446+6827C=
n.220-5269C=
c.105249G= (p.Glu35083=)
c.79143G= (p.Glu26381=)
c.79002G= (p.Glu26334=)
c.105045G= (p.Glu35015=)
c.100443G= (p.Glu33481=)
c.100440G= (p.Glu33480=)
c.97482G= (p.Glu32494=)
c.79098G= (p.Glu26366=)
c.100593G= (p.Glu33531=)
c.100590G= (p.Glu33530=)
c.100023G= (p.Glu33341=)
c.97365G= (p.Glu32455=)
c.97284G= (p.Glu32428=)
c.79047G= (p.Glu26349=)
c.68901G= (p.Glu22967=)
2g.178530463C>GCA349406899TTN,TTN-AS1c.98448G>C (p.Glu32816Asp)
c.79533G>C (p.Glu26511Asp)
c.79332G>C (p.Glu26444Asp)
c.78957G>C (p.Glu26319Asp)
c.106152G>C (p.Glu35384Asp)
c.101229G>C (p.Glu33743Asp)
n.446+6827C>G
n.220-5269C>G
c.105249G>C (p.Glu35083Asp)
c.79143G>C (p.Glu26381Asp)
c.79002G>C (p.Glu26334Asp)
c.105045G>C (p.Glu35015Asp)
c.100443G>C (p.Glu33481Asp)
c.100440G>C (p.Glu33480Asp)
c.97482G>C (p.Glu32494Asp)
c.79098G>C (p.Glu26366Asp)
c.100593G>C (p.Glu33531Asp)
c.100590G>C (p.Glu33530Asp)
c.100023G>C (p.Glu33341Asp)
c.97365G>C (p.Glu32455Asp)
c.97284G>C (p.Glu32428Asp)
c.79047G>C (p.Glu26349Asp)
c.68901G>C (p.Glu22967Asp)
2g.178530463C>TCA1985157TTN,TTN-AS1c.98448G>A (p.Glu32816=)
c.79533G>A (p.Glu26511=)
c.79332G>A (p.Glu26444=)
c.78957G>A (p.Glu26319=)
c.106152G>A (p.Glu35384=)
c.101229G>A (p.Glu33743=)
n.446+6827C>T
n.220-5269C>T
c.105249G>A (p.Glu35083=)
c.79143G>A (p.Glu26381=)
c.79002G>A (p.Glu26334=)
c.105045G>A (p.Glu35015=)
c.100443G>A (p.Glu33481=)
c.100440G>A (p.Glu33480=)
c.97482G>A (p.Glu32494=)
c.79098G>A (p.Glu26366=)
c.100593G>A (p.Glu33531=)
c.100590G>A (p.Glu33530=)
c.100023G>A (p.Glu33341=)
c.97365G>A (p.Glu32455=)
c.97284G>A (p.Glu32428=)
c.79047G>A (p.Glu26349=)
c.68901G>A (p.Glu22967=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530464T>ACA349406901TTN,TTN-AS1c.98447A>T (p.Glu32816Val)
c.79532A>T (p.Glu26511Val)
c.79331A>T (p.Glu26444Val)
c.78956A>T (p.Glu26319Val)
c.106151A>T (p.Glu35384Val)
c.101228A>T (p.Glu33743Val)
n.446+6828T>A
n.220-5268T>A
c.105248A>T (p.Glu35083Val)
c.79142A>T (p.Glu26381Val)
c.79001A>T (p.Glu26334Val)
c.105044A>T (p.Glu35015Val)
c.100442A>T (p.Glu33481Val)
c.100439A>T (p.Glu33480Val)
c.97481A>T (p.Glu32494Val)
c.79097A>T (p.Glu26366Val)
c.100592A>T (p.Glu33531Val)
c.100589A>T (p.Glu33530Val)
c.100022A>T (p.Glu33341Val)
c.97364A>T (p.Glu32455Val)
c.97283A>T (p.Glu32428Val)
c.79046A>T (p.Glu26349Val)
c.68900A>T (p.Glu22967Val)
2g.178530464T>CCA349406903TTN,TTN-AS1c.98447A>G (p.Glu32816Gly)
c.79532A>G (p.Glu26511Gly)
c.79331A>G (p.Glu26444Gly)
c.78956A>G (p.Glu26319Gly)
c.106151A>G (p.Glu35384Gly)
c.101228A>G (p.Glu33743Gly)
n.446+6828T>C
n.220-5268T>C
c.105248A>G (p.Glu35083Gly)
c.79142A>G (p.Glu26381Gly)
c.79001A>G (p.Glu26334Gly)
c.105044A>G (p.Glu35015Gly)
c.100442A>G (p.Glu33481Gly)
c.100439A>G (p.Glu33480Gly)
c.97481A>G (p.Glu32494Gly)
c.79097A>G (p.Glu26366Gly)
c.100592A>G (p.Glu33531Gly)
c.100589A>G (p.Glu33530Gly)
c.100022A>G (p.Glu33341Gly)
c.97364A>G (p.Glu32455Gly)
c.97283A>G (p.Glu32428Gly)
c.79046A>G (p.Glu26349Gly)
c.68900A>G (p.Glu22967Gly)
2g.178530464T>GCA349406905TTN,TTN-AS1c.98447A>C (p.Glu32816Ala)
c.79532A>C (p.Glu26511Ala)
c.79331A>C (p.Glu26444Ala)
c.78956A>C (p.Glu26319Ala)
c.106151A>C (p.Glu35384Ala)
c.101228A>C (p.Glu33743Ala)
n.446+6828T>G
n.220-5268T>G
c.105248A>C (p.Glu35083Ala)
c.79142A>C (p.Glu26381Ala)
c.79001A>C (p.Glu26334Ala)
c.105044A>C (p.Glu35015Ala)
c.100442A>C (p.Glu33481Ala)
c.100439A>C (p.Glu33480Ala)
c.97481A>C (p.Glu32494Ala)
c.79097A>C (p.Glu26366Ala)
c.100592A>C (p.Glu33531Ala)
c.100589A>C (p.Glu33530Ala)
c.100022A>C (p.Glu33341Ala)
c.97364A>C (p.Glu32455Ala)
c.97283A>C (p.Glu32428Ala)
c.79046A>C (p.Glu26349Ala)
c.68900A>C (p.Glu22967Ala)
2g.178530465C>ACA349406907TTN,TTN-AS1c.98446G>T (p.Glu32816Ter)
c.79531G>T (p.Glu26511Ter)
c.79330G>T (p.Glu26444Ter)
c.78955G>T (p.Glu26319Ter)
c.106150G>T (p.Glu35384Ter)
c.101227G>T (p.Glu33743Ter)
n.446+6829C>A
n.220-5267C>A
c.105247G>T (p.Glu35083Ter)
c.79141G>T (p.Glu26381Ter)
c.79000G>T (p.Glu26334Ter)
c.105043G>T (p.Glu35015Ter)
c.100441G>T (p.Glu33481Ter)
c.100438G>T (p.Glu33480Ter)
c.97480G>T (p.Glu32494Ter)
c.79096G>T (p.Glu26366Ter)
c.100591G>T (p.Glu33531Ter)
c.100588G>T (p.Glu33530Ter)
c.100021G>T (p.Glu33341Ter)
c.97363G>T (p.Glu32455Ter)
c.97282G>T (p.Glu32428Ter)
c.79045G>T (p.Glu26349Ter)
c.68899G>T (p.Glu22967Ter)
2g.178530465C=CA1310514647TTN,TTN-AS1c.98446G= (p.Glu32816=)
c.79531G= (p.Glu26511=)
c.79330G= (p.Glu26444=)
c.78955G= (p.Glu26319=)
c.106150G= (p.Glu35384=)
c.101227G= (p.Glu33743=)
n.446+6829C=
n.220-5267C=
c.105247G= (p.Glu35083=)
c.79141G= (p.Glu26381=)
c.79000G= (p.Glu26334=)
c.105043G= (p.Glu35015=)
c.100441G= (p.Glu33481=)
c.100438G= (p.Glu33480=)
c.97480G= (p.Glu32494=)
c.79096G= (p.Glu26366=)
c.100591G= (p.Glu33531=)
c.100588G= (p.Glu33530=)
c.100021G= (p.Glu33341=)
c.97363G= (p.Glu32455=)
c.97282G= (p.Glu32428=)
c.79045G= (p.Glu26349=)
c.68899G= (p.Glu22967=)
2g.178530465C>GCA349406909TTN,TTN-AS1c.98446G>C (p.Glu32816Gln)
c.79531G>C (p.Glu26511Gln)
c.79330G>C (p.Glu26444Gln)
c.78955G>C (p.Glu26319Gln)
c.106150G>C (p.Glu35384Gln)
c.101227G>C (p.Glu33743Gln)
n.446+6829C>G
n.220-5267C>G
c.105247G>C (p.Glu35083Gln)
c.79141G>C (p.Glu26381Gln)
c.79000G>C (p.Glu26334Gln)
c.105043G>C (p.Glu35015Gln)
c.100441G>C (p.Glu33481Gln)
c.100438G>C (p.Glu33480Gln)
c.97480G>C (p.Glu32494Gln)
c.79096G>C (p.Glu26366Gln)
c.100591G>C (p.Glu33531Gln)
c.100588G>C (p.Glu33530Gln)
c.100021G>C (p.Glu33341Gln)
c.97363G>C (p.Glu32455Gln)
c.97282G>C (p.Glu32428Gln)
c.79045G>C (p.Glu26349Gln)
c.68899G>C (p.Glu22967Gln)
 dbSNP gnomAD v2
2g.178530465C>TCA349406911TTN,TTN-AS1c.98446G>A (p.Glu32816Lys)
c.79531G>A (p.Glu26511Lys)
c.79330G>A (p.Glu26444Lys)
c.78955G>A (p.Glu26319Lys)
c.106150G>A (p.Glu35384Lys)
c.101227G>A (p.Glu33743Lys)
n.446+6829C>T
n.220-5267C>T
c.105247G>A (p.Glu35083Lys)
c.79141G>A (p.Glu26381Lys)
c.79000G>A (p.Glu26334Lys)
c.105043G>A (p.Glu35015Lys)
c.100441G>A (p.Glu33481Lys)
c.100438G>A (p.Glu33480Lys)
c.97480G>A (p.Glu32494Lys)
c.79096G>A (p.Glu26366Lys)
c.100591G>A (p.Glu33531Lys)
c.100588G>A (p.Glu33530Lys)
c.100021G>A (p.Glu33341Lys)
c.97363G>A (p.Glu32455Lys)
c.97282G>A (p.Glu32428Lys)
c.79045G>A (p.Glu26349Lys)
c.68899G>A (p.Glu22967Lys)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178530466A>CCA349406913TTN,TTN-AS1c.98445T>G (p.His32815Gln)
c.79530T>G (p.His26510Gln)
c.79329T>G (p.His26443Gln)
c.78954T>G (p.His26318Gln)
c.106149T>G (p.His35383Gln)
c.101226T>G (p.His33742Gln)
n.446+6830A>C
n.220-5266A>C
c.105246T>G (p.His35082Gln)
c.79140T>G (p.His26380Gln)
c.78999T>G (p.His26333Gln)
c.105042T>G (p.His35014Gln)
c.100440T>G (p.His33480Gln)
c.100437T>G (p.His33479Gln)
c.97479T>G (p.His32493Gln)
c.79095T>G (p.His26365Gln)
c.100590T>G (p.His33530Gln)
c.100587T>G (p.His33529Gln)
c.100020T>G (p.His33340Gln)
c.97362T>G (p.His32454Gln)
c.97281T>G (p.His32427Gln)
c.79044T>G (p.His26348Gln)
c.68898T>G (p.His22966Gln)
 gnomAD v4
2g.178530466A>GCA430235035TTN,TTN-AS1c.98445T>C (p.His32815=)
c.79530T>C (p.His26510=)
c.79329T>C (p.His26443=)
c.78954T>C (p.His26318=)
c.106149T>C (p.His35383=)
c.101226T>C (p.His33742=)
n.446+6830A>G
n.220-5266A>G
c.105246T>C (p.His35082=)
c.79140T>C (p.His26380=)
c.78999T>C (p.His26333=)
c.105042T>C (p.His35014=)
c.100440T>C (p.His33480=)
c.100437T>C (p.His33479=)
c.97479T>C (p.His32493=)
c.79095T>C (p.His26365=)
c.100590T>C (p.His33530=)
c.100587T>C (p.His33529=)
c.100020T>C (p.His33340=)
c.97362T>C (p.His32454=)
c.97281T>C (p.His32427=)
c.79044T>C (p.His26348=)
c.68898T>C (p.His22966=)
2g.178530466A>TCA349406915TTN,TTN-AS1c.98445T>A (p.His32815Gln)
c.79530T>A (p.His26510Gln)
c.79329T>A (p.His26443Gln)
c.78954T>A (p.His26318Gln)
c.106149T>A (p.His35383Gln)
c.101226T>A (p.His33742Gln)
n.446+6830A>T
n.220-5266A>T
c.105246T>A (p.His35082Gln)
c.79140T>A (p.His26380Gln)
c.78999T>A (p.His26333Gln)
c.105042T>A (p.His35014Gln)
c.100440T>A (p.His33480Gln)
c.100437T>A (p.His33479Gln)
c.97479T>A (p.His32493Gln)
c.79095T>A (p.His26365Gln)
c.100590T>A (p.His33530Gln)
c.100587T>A (p.His33529Gln)
c.100020T>A (p.His33340Gln)
c.97362T>A (p.His32454Gln)
c.97281T>A (p.His32427Gln)
c.79044T>A (p.His26348Gln)
c.68898T>A (p.His22966Gln)
2g.178530467T>ACA349406918TTN,TTN-AS1c.98444A>T (p.His32815Leu)
c.79529A>T (p.His26510Leu)
c.79328A>T (p.His26443Leu)
c.78953A>T (p.His26318Leu)
c.106148A>T (p.His35383Leu)
c.101225A>T (p.His33742Leu)
n.446+6831T>A
n.220-5265T>A
c.105245A>T (p.His35082Leu)
c.79139A>T (p.His26380Leu)
c.78998A>T (p.His26333Leu)
c.105041A>T (p.His35014Leu)
c.100439A>T (p.His33480Leu)
c.100436A>T (p.His33479Leu)
c.97478A>T (p.His32493Leu)
c.79094A>T (p.His26365Leu)
c.100589A>T (p.His33530Leu)
c.100586A>T (p.His33529Leu)
c.100019A>T (p.His33340Leu)
c.97361A>T (p.His32454Leu)
c.97280A>T (p.His32427Leu)
c.79043A>T (p.His26348Leu)
c.68897A>T (p.His22966Leu)
2g.178530467T>CCA349406920TTN,TTN-AS1c.98444A>G (p.His32815Arg)
c.79529A>G (p.His26510Arg)
c.79328A>G (p.His26443Arg)
c.78953A>G (p.His26318Arg)
c.106148A>G (p.His35383Arg)
c.101225A>G (p.His33742Arg)
n.446+6831T>C
n.220-5265T>C
c.105245A>G (p.His35082Arg)
c.79139A>G (p.His26380Arg)
c.78998A>G (p.His26333Arg)
c.105041A>G (p.His35014Arg)
c.100439A>G (p.His33480Arg)
c.100436A>G (p.His33479Arg)
c.97478A>G (p.His32493Arg)
c.79094A>G (p.His26365Arg)
c.100589A>G (p.His33530Arg)
c.100586A>G (p.His33529Arg)
c.100019A>G (p.His33340Arg)
c.97361A>G (p.His32454Arg)
c.97280A>G (p.His32427Arg)
c.79043A>G (p.His26348Arg)
c.68897A>G (p.His22966Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178530467T>GCA349406921TTN,TTN-AS1c.98444A>C (p.His32815Pro)
c.79529A>C (p.His26510Pro)
c.79328A>C (p.His26443Pro)
c.78953A>C (p.His26318Pro)
c.106148A>C (p.His35383Pro)
c.101225A>C (p.His33742Pro)
n.446+6831T>G
n.220-5265T>G
c.105245A>C (p.His35082Pro)
c.79139A>C (p.His26380Pro)
c.78998A>C (p.His26333Pro)
c.105041A>C (p.His35014Pro)
c.100439A>C (p.His33480Pro)
c.100436A>C (p.His33479Pro)
c.97478A>C (p.His32493Pro)
c.79094A>C (p.His26365Pro)
c.100589A>C (p.His33530Pro)
c.100586A>C (p.His33529Pro)
c.100019A>C (p.His33340Pro)
c.97361A>C (p.His32454Pro)
c.97280A>C (p.His32427Pro)
c.79043A>C (p.His26348Pro)
c.68897A>C (p.His22966Pro)
2g.178530467T=CA1310514651TTN,TTN-AS1c.98444A= (p.His32815=)
c.79529A= (p.His26510=)
c.79328A= (p.His26443=)
c.78953A= (p.His26318=)
c.106148A= (p.His35383=)
c.101225A= (p.His33742=)
n.446+6831T=
n.220-5265T=
c.105245A= (p.His35082=)
c.79139A= (p.His26380=)
c.78998A= (p.His26333=)
c.105041A= (p.His35014=)
c.100439A= (p.His33480=)
c.100436A= (p.His33479=)
c.97478A= (p.His32493=)
c.79094A= (p.His26365=)
c.100589A= (p.His33530=)
c.100586A= (p.His33529=)
c.100019A= (p.His33340=)
c.97361A= (p.His32454=)
c.97280A= (p.His32427=)
c.79043A= (p.His26348=)
c.68897A= (p.His22966=)
2g.178530468G>ACA349406922TTN,TTN-AS1c.98443C>T (p.His32815Tyr)
c.79528C>T (p.His26510Tyr)
c.79327C>T (p.His26443Tyr)
c.78952C>T (p.His26318Tyr)
c.106147C>T (p.His35383Tyr)
c.101224C>T (p.His33742Tyr)
n.446+6832G>A
n.220-5264G>A
c.105244C>T (p.His35082Tyr)
c.79138C>T (p.His26380Tyr)
c.78997C>T (p.His26333Tyr)
c.105040C>T (p.His35014Tyr)
c.100438C>T (p.His33480Tyr)
c.100435C>T (p.His33479Tyr)
c.97477C>T (p.His32493Tyr)
c.79093C>T (p.His26365Tyr)
c.100588C>T (p.His33530Tyr)
c.100585C>T (p.His33529Tyr)
c.100018C>T (p.His33340Tyr)
c.97360C>T (p.His32454Tyr)
c.97279C>T (p.His32427Tyr)
c.79042C>T (p.His26348Tyr)
c.68896C>T (p.His22966Tyr)
2g.178530468G>CCA349406927TTN,TTN-AS1c.98443C>G (p.His32815Asp)
c.79528C>G (p.His26510Asp)
c.79327C>G (p.His26443Asp)
c.78952C>G (p.His26318Asp)
c.106147C>G (p.His35383Asp)
c.101224C>G (p.His33742Asp)
n.446+6832G>C
n.220-5264G>C
c.105244C>G (p.His35082Asp)
c.79138C>G (p.His26380Asp)
c.78997C>G (p.His26333Asp)
c.105040C>G (p.His35014Asp)
c.100438C>G (p.His33480Asp)
c.100435C>G (p.His33479Asp)
c.97477C>G (p.His32493Asp)
c.79093C>G (p.His26365Asp)
c.100588C>G (p.His33530Asp)
c.100585C>G (p.His33529Asp)
c.100018C>G (p.His33340Asp)
c.97360C>G (p.His32454Asp)
c.97279C>G (p.His32427Asp)
c.79042C>G (p.His26348Asp)
c.68896C>G (p.His22966Asp)
2g.178530468G>TCA349406924TTN,TTN-AS1c.98443C>A (p.His32815Asn)
c.79528C>A (p.His26510Asn)
c.79327C>A (p.His26443Asn)
c.78952C>A (p.His26318Asn)
c.106147C>A (p.His35383Asn)
c.101224C>A (p.His33742Asn)
n.446+6832G>T
n.220-5264G>T
c.105244C>A (p.His35082Asn)
c.79138C>A (p.His26380Asn)
c.78997C>A (p.His26333Asn)
c.105040C>A (p.His35014Asn)
c.100438C>A (p.His33480Asn)
c.100435C>A (p.His33479Asn)
c.97477C>A (p.His32493Asn)
c.79093C>A (p.His26365Asn)
c.100588C>A (p.His33530Asn)
c.100585C>A (p.His33529Asn)
c.100018C>A (p.His33340Asn)
c.97360C>A (p.His32454Asn)
c.97279C>A (p.His32427Asn)
c.79042C>A (p.His26348Asn)
c.68896C>A (p.His22966Asn)
2g.178530469delCA2586970738TTN,TTN-AS1c.98443del (p.His32815MetfsTer22)
c.79528del (p.His26510MetfsTer22)
c.79327del (p.His26443MetfsTer22)
c.78952del (p.His26318MetfsTer22)
c.106147del (p.His35383MetfsTer22)
c.101224del (p.His33742MetfsTer22)
n.446+6833del
n.220-5263del
c.105244del (p.His35082MetfsTer22)
c.79138del (p.His26380MetfsTer22)
c.78997del (p.His26333MetfsTer22)
c.105040del (p.His35014MetfsTer22)
c.100438del (p.His33480MetfsTer22)
c.100435del (p.His33479MetfsTer22)
c.97477del (p.His32493MetfsTer22)
c.79093del (p.His26365MetfsTer22)
c.100588del (p.His33530MetfsTer22)
c.100585del (p.His33529MetfsTer22)
c.100018del (p.His33340MetfsTer22)
c.97360del (p.His32454MetfsTer22)
c.97279del (p.His32427MetfsTer22)
c.79042del (p.His26348MetfsTer22)
c.68896del (p.His22966MetfsTer22)
 gnomAD v4
2g.178530469G>ACA430235043TTN,TTN-AS1c.98442C>T (p.Ile32814=)
c.79527C>T (p.Ile26509=)
c.79326C>T (p.Ile26442=)
c.78951C>T (p.Ile26317=)
c.106146C>T (p.Ile35382=)
c.101223C>T (p.Ile33741=)
n.446+6833G>A
n.220-5263G>A
c.105243C>T (p.Ile35081=)
c.79137C>T (p.Ile26379=)
c.78996C>T (p.Ile26332=)
c.105039C>T (p.Ile35013=)
c.100437C>T (p.Ile33479=)
c.100434C>T (p.Ile33478=)
c.97476C>T (p.Ile32492=)
c.79092C>T (p.Ile26364=)
c.100587C>T (p.Ile33529=)
c.100584C>T (p.Ile33528=)
c.100017C>T (p.Ile33339=)
c.97359C>T (p.Ile32453=)
c.97278C>T (p.Ile32426=)
c.79041C>T (p.Ile26347=)
c.68895C>T (p.Ile22965=)
2g.178530469G>CCA349406929TTN,TTN-AS1c.98442C>G (p.Ile32814Met)
c.79527C>G (p.Ile26509Met)
c.79326C>G (p.Ile26442Met)
c.78951C>G (p.Ile26317Met)
c.106146C>G (p.Ile35382Met)
c.101223C>G (p.Ile33741Met)
n.446+6833G>C
n.220-5263G>C
c.105243C>G (p.Ile35081Met)
c.79137C>G (p.Ile26379Met)
c.78996C>G (p.Ile26332Met)
c.105039C>G (p.Ile35013Met)
c.100437C>G (p.Ile33479Met)
c.100434C>G (p.Ile33478Met)
c.97476C>G (p.Ile32492Met)
c.79092C>G (p.Ile26364Met)
c.100587C>G (p.Ile33529Met)
c.100584C>G (p.Ile33528Met)
c.100017C>G (p.Ile33339Met)
c.97359C>G (p.Ile32453Met)
c.97278C>G (p.Ile32426Met)
c.79041C>G (p.Ile26347Met)
c.68895C>G (p.Ile22965Met)
2g.178530469G=CA1310514652TTN,TTN-AS1c.98442C= (p.Ile32814=)
c.79527C= (p.Ile26509=)
c.79326C= (p.Ile26442=)
c.78951C= (p.Ile26317=)
c.106146C= (p.Ile35382=)
c.101223C= (p.Ile33741=)
n.446+6833G=
n.220-5263G=
c.105243C= (p.Ile35081=)
c.79137C= (p.Ile26379=)
c.78996C= (p.Ile26332=)
c.105039C= (p.Ile35013=)
c.100437C= (p.Ile33479=)
c.100434C= (p.Ile33478=)
c.97476C= (p.Ile32492=)
c.79092C= (p.Ile26364=)
c.100587C= (p.Ile33529=)
c.100584C= (p.Ile33528=)
c.100017C= (p.Ile33339=)
c.97359C= (p.Ile32453=)
c.97278C= (p.Ile32426=)
c.79041C= (p.Ile26347=)
c.68895C= (p.Ile22965=)
2g.178530469G>TCA430235041TTN,TTN-AS1c.98442C>A (p.Ile32814=)
c.79527C>A (p.Ile26509=)
c.79326C>A (p.Ile26442=)
c.78951C>A (p.Ile26317=)
c.106146C>A (p.Ile35382=)
c.101223C>A (p.Ile33741=)
n.446+6833G>T
n.220-5263G>T
c.105243C>A (p.Ile35081=)
c.79137C>A (p.Ile26379=)
c.78996C>A (p.Ile26332=)
c.105039C>A (p.Ile35013=)
c.100437C>A (p.Ile33479=)
c.100434C>A (p.Ile33478=)
c.97476C>A (p.Ile32492=)
c.79092C>A (p.Ile26364=)
c.100587C>A (p.Ile33529=)
c.100584C>A (p.Ile33528=)
c.100017C>A (p.Ile33339=)
c.97359C>A (p.Ile32453=)
c.97278C>A (p.Ile32426=)
c.79041C>A (p.Ile26347=)
c.68895C>A (p.Ile22965=)
 dbSNP gnomAD v3 gnomAD v4
2g.178530470A=CA1310514654TTN,TTN-AS1c.98441T= (p.Ile32814=)
c.79526T= (p.Ile26509=)
c.79325T= (p.Ile26442=)
c.78950T= (p.Ile26317=)
c.106145T= (p.Ile35382=)
c.101222T= (p.Ile33741=)
n.446+6834A=
n.220-5262A=
c.105242T= (p.Ile35081=)
c.79136T= (p.Ile26379=)
c.78995T= (p.Ile26332=)
c.105038T= (p.Ile35013=)
c.100436T= (p.Ile33479=)
c.100433T= (p.Ile33478=)
c.97475T= (p.Ile32492=)
c.79091T= (p.Ile26364=)
c.100586T= (p.Ile33529=)
c.100583T= (p.Ile33528=)
c.100016T= (p.Ile33339=)
c.97358T= (p.Ile32453=)
c.97277T= (p.Ile32426=)
c.79040T= (p.Ile26347=)
c.68894T= (p.Ile22965=)
2g.178530470A>CCA349406934TTN,TTN-AS1c.98441T>G (p.Ile32814Ser)
c.79526T>G (p.Ile26509Ser)
c.79325T>G (p.Ile26442Ser)
c.78950T>G (p.Ile26317Ser)
c.106145T>G (p.Ile35382Ser)
c.101222T>G (p.Ile33741Ser)
n.446+6834A>C
n.220-5262A>C
c.105242T>G (p.Ile35081Ser)
c.79136T>G (p.Ile26379Ser)
c.78995T>G (p.Ile26332Ser)
c.105038T>G (p.Ile35013Ser)
c.100436T>G (p.Ile33479Ser)
c.100433T>G (p.Ile33478Ser)
c.97475T>G (p.Ile32492Ser)
c.79091T>G (p.Ile26364Ser)
c.100586T>G (p.Ile33529Ser)
c.100583T>G (p.Ile33528Ser)
c.100016T>G (p.Ile33339Ser)
c.97358T>G (p.Ile32453Ser)
c.97277T>G (p.Ile32426Ser)
c.79040T>G (p.Ile26347Ser)
c.68894T>G (p.Ile22965Ser)
2g.178530470A>GCA349406931TTN,TTN-AS1c.98441T>C (p.Ile32814Thr)
c.79526T>C (p.Ile26509Thr)
c.79325T>C (p.Ile26442Thr)
c.78950T>C (p.Ile26317Thr)
c.106145T>C (p.Ile35382Thr)
c.101222T>C (p.Ile33741Thr)
n.446+6834A>G
n.220-5262A>G
c.105242T>C (p.Ile35081Thr)
c.79136T>C (p.Ile26379Thr)
c.78995T>C (p.Ile26332Thr)
c.105038T>C (p.Ile35013Thr)
c.100436T>C (p.Ile33479Thr)
c.100433T>C (p.Ile33478Thr)
c.97475T>C (p.Ile32492Thr)
c.79091T>C (p.Ile26364Thr)
c.100586T>C (p.Ile33529Thr)
c.100583T>C (p.Ile33528Thr)
c.100016T>C (p.Ile33339Thr)
c.97358T>C (p.Ile32453Thr)
c.97277T>C (p.Ile32426Thr)
c.79040T>C (p.Ile26347Thr)
c.68894T>C (p.Ile22965Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178530470A>TCA349406933TTN,TTN-AS1c.98441T>A (p.Ile32814Asn)
c.79526T>A (p.Ile26509Asn)
c.79325T>A (p.Ile26442Asn)
c.78950T>A (p.Ile26317Asn)
c.106145T>A (p.Ile35382Asn)
c.101222T>A (p.Ile33741Asn)
n.446+6834A>T
n.220-5262A>T
c.105242T>A (p.Ile35081Asn)
c.79136T>A (p.Ile26379Asn)
c.78995T>A (p.Ile26332Asn)
c.105038T>A (p.Ile35013Asn)
c.100436T>A (p.Ile33479Asn)
c.100433T>A (p.Ile33478Asn)
c.97475T>A (p.Ile32492Asn)
c.79091T>A (p.Ile26364Asn)
c.100586T>A (p.Ile33529Asn)
c.100583T>A (p.Ile33528Asn)
c.100016T>A (p.Ile33339Asn)
c.97358T>A (p.Ile32453Asn)
c.97277T>A (p.Ile32426Asn)
c.79040T>A (p.Ile26347Asn)
c.68894T>A (p.Ile22965Asn)
2g.178530471T>ACA349406935TTN,TTN-AS1c.98440A>T (p.Ile32814Phe)
c.79525A>T (p.Ile26509Phe)
c.79324A>T (p.Ile26442Phe)
c.78949A>T (p.Ile26317Phe)
c.106144A>T (p.Ile35382Phe)
c.101221A>T (p.Ile33741Phe)
n.446+6835T>A
n.220-5261T>A
c.105241A>T (p.Ile35081Phe)
c.79135A>T (p.Ile26379Phe)
c.78994A>T (p.Ile26332Phe)
c.105037A>T (p.Ile35013Phe)
c.100435A>T (p.Ile33479Phe)
c.100432A>T (p.Ile33478Phe)
c.97474A>T (p.Ile32492Phe)
c.79090A>T (p.Ile26364Phe)
c.100585A>T (p.Ile33529Phe)
c.100582A>T (p.Ile33528Phe)
c.100015A>T (p.Ile33339Phe)
c.97357A>T (p.Ile32453Phe)
c.97276A>T (p.Ile32426Phe)
c.79039A>T (p.Ile26347Phe)
c.68893A>T (p.Ile22965Phe)
2g.178530471T>CCA349406936TTN,TTN-AS1c.98440A>G (p.Ile32814Val)
c.79525A>G (p.Ile26509Val)
c.79324A>G (p.Ile26442Val)
c.78949A>G (p.Ile26317Val)
c.106144A>G (p.Ile35382Val)
c.101221A>G (p.Ile33741Val)
n.446+6835T>C
n.220-5261T>C
c.105241A>G (p.Ile35081Val)
c.79135A>G (p.Ile26379Val)
c.78994A>G (p.Ile26332Val)
c.105037A>G (p.Ile35013Val)
c.100435A>G (p.Ile33479Val)
c.100432A>G (p.Ile33478Val)
c.97474A>G (p.Ile32492Val)
c.79090A>G (p.Ile26364Val)
c.100585A>G (p.Ile33529Val)
c.100582A>G (p.Ile33528Val)
c.100015A>G (p.Ile33339Val)
c.97357A>G (p.Ile32453Val)
c.97276A>G (p.Ile32426Val)
c.79039A>G (p.Ile26347Val)
c.68893A>G (p.Ile22965Val)
2g.178530471T>GCA349406937TTN,TTN-AS1c.98440A>C (p.Ile32814Leu)
c.79525A>C (p.Ile26509Leu)
c.79324A>C (p.Ile26442Leu)
c.78949A>C (p.Ile26317Leu)
c.106144A>C (p.Ile35382Leu)
c.101221A>C (p.Ile33741Leu)
n.446+6835T>G
n.220-5261T>G
c.105241A>C (p.Ile35081Leu)
c.79135A>C (p.Ile26379Leu)
c.78994A>C (p.Ile26332Leu)
c.105037A>C (p.Ile35013Leu)
c.100435A>C (p.Ile33479Leu)
c.100432A>C (p.Ile33478Leu)
c.97474A>C (p.Ile32492Leu)
c.79090A>C (p.Ile26364Leu)
c.100585A>C (p.Ile33529Leu)
c.100582A>C (p.Ile33528Leu)
c.100015A>C (p.Ile33339Leu)
c.97357A>C (p.Ile32453Leu)
c.97276A>C (p.Ile32426Leu)
c.79039A>C (p.Ile26347Leu)
c.68893A>C (p.Ile22965Leu)
2g.178530472A=CA1310514656TTN,TTN-AS1c.98439T= (p.Ser32813=)
c.79524T= (p.Ser26508=)
c.79323T= (p.Ser26441=)
c.78948T= (p.Ser26316=)
c.106143T= (p.Ser35381=)
c.101220T= (p.Ser33740=)
n.446+6836A=
n.220-5260A=
c.105240T= (p.Ser35080=)
c.79134T= (p.Ser26378=)
c.78993T= (p.Ser26331=)
c.105036T= (p.Ser35012=)
c.100434T= (p.Ser33478=)
c.100431T= (p.Ser33477=)
c.97473T= (p.Ser32491=)
c.79089T= (p.Ser26363=)
c.100584T= (p.Ser33528=)
c.100581T= (p.Ser33527=)
c.100014T= (p.Ser33338=)
c.97356T= (p.Ser32452=)
c.97275T= (p.Ser32425=)
c.79038T= (p.Ser26346=)
c.68892T= (p.Ser22964=)
2g.178530472A>CCA349406938TTN,TTN-AS1c.98439T>G (p.Ser32813Arg)
c.79524T>G (p.Ser26508Arg)
c.79323T>G (p.Ser26441Arg)
c.78948T>G (p.Ser26316Arg)
c.106143T>G (p.Ser35381Arg)
c.101220T>G (p.Ser33740Arg)
n.446+6836A>C
n.220-5260A>C
c.105240T>G (p.Ser35080Arg)
c.79134T>G (p.Ser26378Arg)
c.78993T>G (p.Ser26331Arg)
c.105036T>G (p.Ser35012Arg)
c.100434T>G (p.Ser33478Arg)
c.100431T>G (p.Ser33477Arg)
c.97473T>G (p.Ser32491Arg)
c.79089T>G (p.Ser26363Arg)
c.100584T>G (p.Ser33528Arg)
c.100581T>G (p.Ser33527Arg)
c.100014T>G (p.Ser33338Arg)
c.97356T>G (p.Ser32452Arg)
c.97275T>G (p.Ser32425Arg)
c.79038T>G (p.Ser26346Arg)
c.68892T>G (p.Ser22964Arg)
2g.178530472A>GCA60953382TTN,TTN-AS1c.98439T>C (p.Ser32813=)
c.79524T>C (p.Ser26508=)
c.79323T>C (p.Ser26441=)
c.78948T>C (p.Ser26316=)
c.106143T>C (p.Ser35381=)
c.101220T>C (p.Ser33740=)
n.446+6836A>G
n.220-5260A>G
c.105240T>C (p.Ser35080=)
c.79134T>C (p.Ser26378=)
c.78993T>C (p.Ser26331=)
c.105036T>C (p.Ser35012=)
c.100434T>C (p.Ser33478=)
c.100431T>C (p.Ser33477=)
c.97473T>C (p.Ser32491=)
c.79089T>C (p.Ser26363=)
c.100584T>C (p.Ser33528=)
c.100581T>C (p.Ser33527=)
c.100014T>C (p.Ser33338=)
c.97356T>C (p.Ser32452=)
c.97275T>C (p.Ser32425=)
c.79038T>C (p.Ser26346=)
c.68892T>C (p.Ser22964=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530472A>TCA349406939TTN,TTN-AS1c.98439T>A (p.Ser32813Arg)
c.79524T>A (p.Ser26508Arg)
c.79323T>A (p.Ser26441Arg)
c.78948T>A (p.Ser26316Arg)
c.106143T>A (p.Ser35381Arg)
c.101220T>A (p.Ser33740Arg)
n.446+6836A>T
n.220-5260A>T
c.105240T>A (p.Ser35080Arg)
c.79134T>A (p.Ser26378Arg)
c.78993T>A (p.Ser26331Arg)
c.105036T>A (p.Ser35012Arg)
c.100434T>A (p.Ser33478Arg)
c.100431T>A (p.Ser33477Arg)
c.97473T>A (p.Ser32491Arg)
c.79089T>A (p.Ser26363Arg)
c.100584T>A (p.Ser33528Arg)
c.100581T>A (p.Ser33527Arg)
c.100014T>A (p.Ser33338Arg)
c.97356T>A (p.Ser32452Arg)
c.97275T>A (p.Ser32425Arg)
c.79038T>A (p.Ser26346Arg)
c.68892T>A (p.Ser22964Arg)
2g.178530473C>ACA349406940TTN,TTN-AS1c.98438G>T (p.Ser32813Ile)
c.79523G>T (p.Ser26508Ile)
c.79322G>T (p.Ser26441Ile)
c.78947G>T (p.Ser26316Ile)
c.106142G>T (p.Ser35381Ile)
c.101219G>T (p.Ser33740Ile)
n.446+6837C>A
n.220-5259C>A
c.105239G>T (p.Ser35080Ile)
c.79133G>T (p.Ser26378Ile)
c.78992G>T (p.Ser26331Ile)
c.105035G>T (p.Ser35012Ile)
c.100433G>T (p.Ser33478Ile)
c.100430G>T (p.Ser33477Ile)
c.97472G>T (p.Ser32491Ile)
c.79088G>T (p.Ser26363Ile)
c.100583G>T (p.Ser33528Ile)
c.100580G>T (p.Ser33527Ile)
c.100013G>T (p.Ser33338Ile)
c.97355G>T (p.Ser32452Ile)
c.97274G>T (p.Ser32425Ile)
c.79037G>T (p.Ser26346Ile)
c.68891G>T (p.Ser22964Ile)
 gnomAD v4
2g.178530473C=CA1310514659TTN,TTN-AS1c.98438G= (p.Ser32813=)
c.79523G= (p.Ser26508=)
c.79322G= (p.Ser26441=)
c.78947G= (p.Ser26316=)
c.106142G= (p.Ser35381=)
c.101219G= (p.Ser33740=)
n.446+6837C=
n.220-5259C=
c.105239G= (p.Ser35080=)
c.79133G= (p.Ser26378=)
c.78992G= (p.Ser26331=)
c.105035G= (p.Ser35012=)
c.100433G= (p.Ser33478=)
c.100430G= (p.Ser33477=)
c.97472G= (p.Ser32491=)
c.79088G= (p.Ser26363=)
c.100583G= (p.Ser33528=)
c.100580G= (p.Ser33527=)
c.100013G= (p.Ser33338=)
c.97355G= (p.Ser32452=)
c.97274G= (p.Ser32425=)
c.79037G= (p.Ser26346=)
c.68891G= (p.Ser22964=)
2g.178530473C>GCA349406941TTN,TTN-AS1c.98438G>C (p.Ser32813Thr)
c.79523G>C (p.Ser26508Thr)
c.79322G>C (p.Ser26441Thr)
c.78947G>C (p.Ser26316Thr)
c.106142G>C (p.Ser35381Thr)
c.101219G>C (p.Ser33740Thr)
n.446+6837C>G
n.220-5259C>G
c.105239G>C (p.Ser35080Thr)
c.79133G>C (p.Ser26378Thr)
c.78992G>C (p.Ser26331Thr)
c.105035G>C (p.Ser35012Thr)
c.100433G>C (p.Ser33478Thr)
c.100430G>C (p.Ser33477Thr)
c.97472G>C (p.Ser32491Thr)
c.79088G>C (p.Ser26363Thr)
c.100583G>C (p.Ser33528Thr)
c.100580G>C (p.Ser33527Thr)
c.100013G>C (p.Ser33338Thr)
c.97355G>C (p.Ser32452Thr)
c.97274G>C (p.Ser32425Thr)
c.79037G>C (p.Ser26346Thr)
c.68891G>C (p.Ser22964Thr)
2g.178530473C>TCA349406942TTN,TTN-AS1c.98438G>A (p.Ser32813Asn)
c.79523G>A (p.Ser26508Asn)
c.79322G>A (p.Ser26441Asn)
c.78947G>A (p.Ser26316Asn)
c.106142G>A (p.Ser35381Asn)
c.101219G>A (p.Ser33740Asn)
n.446+6837C>T
n.220-5259C>T
c.105239G>A (p.Ser35080Asn)
c.79133G>A (p.Ser26378Asn)
c.78992G>A (p.Ser26331Asn)
c.105035G>A (p.Ser35012Asn)
c.100433G>A (p.Ser33478Asn)
c.100430G>A (p.Ser33477Asn)
c.97472G>A (p.Ser32491Asn)
c.79088G>A (p.Ser26363Asn)
c.100583G>A (p.Ser33528Asn)
c.100580G>A (p.Ser33527Asn)
c.100013G>A (p.Ser33338Asn)
c.97355G>A (p.Ser32452Asn)
c.97274G>A (p.Ser32425Asn)
c.79037G>A (p.Ser26346Asn)
c.68891G>A (p.Ser22964Asn)
 dbSNP gnomAD v4
2g.178530474T>ACA349406943TTN,TTN-AS1c.98437A>T (p.Ser32813Cys)
c.79522A>T (p.Ser26508Cys)
c.79321A>T (p.Ser26441Cys)
c.78946A>T (p.Ser26316Cys)
c.106141A>T (p.Ser35381Cys)
c.101218A>T (p.Ser33740Cys)
n.446+6838T>A
n.220-5258T>A
c.105238A>T (p.Ser35080Cys)
c.79132A>T (p.Ser26378Cys)
c.78991A>T (p.Ser26331Cys)
c.105034A>T (p.Ser35012Cys)
c.100432A>T (p.Ser33478Cys)
c.100429A>T (p.Ser33477Cys)
c.97471A>T (p.Ser32491Cys)
c.79087A>T (p.Ser26363Cys)
c.100582A>T (p.Ser33528Cys)
c.100579A>T (p.Ser33527Cys)
c.100012A>T (p.Ser33338Cys)
c.97354A>T (p.Ser32452Cys)
c.97273A>T (p.Ser32425Cys)
c.79036A>T (p.Ser26346Cys)
c.68890A>T (p.Ser22964Cys)
2g.178530474T>CCA349406944TTN,TTN-AS1c.98437A>G (p.Ser32813Gly)
c.79522A>G (p.Ser26508Gly)
c.79321A>G (p.Ser26441Gly)
c.78946A>G (p.Ser26316Gly)
c.106141A>G (p.Ser35381Gly)
c.101218A>G (p.Ser33740Gly)
n.446+6838T>C
n.220-5258T>C
c.105238A>G (p.Ser35080Gly)
c.79132A>G (p.Ser26378Gly)
c.78991A>G (p.Ser26331Gly)
c.105034A>G (p.Ser35012Gly)
c.100432A>G (p.Ser33478Gly)
c.100429A>G (p.Ser33477Gly)
c.97471A>G (p.Ser32491Gly)
c.79087A>G (p.Ser26363Gly)
c.100582A>G (p.Ser33528Gly)
c.100579A>G (p.Ser33527Gly)
c.100012A>G (p.Ser33338Gly)
c.97354A>G (p.Ser32452Gly)
c.97273A>G (p.Ser32425Gly)
c.79036A>G (p.Ser26346Gly)
c.68890A>G (p.Ser22964Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178530474T>GCA349406945TTN,TTN-AS1c.98437A>C (p.Ser32813Arg)
c.79522A>C (p.Ser26508Arg)
c.79321A>C (p.Ser26441Arg)
c.78946A>C (p.Ser26316Arg)
c.106141A>C (p.Ser35381Arg)
c.101218A>C (p.Ser33740Arg)
n.446+6838T>G
n.220-5258T>G
c.105238A>C (p.Ser35080Arg)
c.79132A>C (p.Ser26378Arg)
c.78991A>C (p.Ser26331Arg)
c.105034A>C (p.Ser35012Arg)
c.100432A>C (p.Ser33478Arg)
c.100429A>C (p.Ser33477Arg)
c.97471A>C (p.Ser32491Arg)
c.79087A>C (p.Ser26363Arg)
c.100582A>C (p.Ser33528Arg)
c.100579A>C (p.Ser33527Arg)
c.100012A>C (p.Ser33338Arg)
c.97354A>C (p.Ser32452Arg)
c.97273A>C (p.Ser32425Arg)
c.79036A>C (p.Ser26346Arg)
c.68890A>C (p.Ser22964Arg)
2g.178530474T=CA1310514661TTN,TTN-AS1c.98437A= (p.Ser32813=)
c.79522A= (p.Ser26508=)
c.79321A= (p.Ser26441=)
c.78946A= (p.Ser26316=)
c.106141A= (p.Ser35381=)
c.101218A= (p.Ser33740=)
n.446+6838T=
n.220-5258T=
c.105238A= (p.Ser35080=)
c.79132A= (p.Ser26378=)
c.78991A= (p.Ser26331=)
c.105034A= (p.Ser35012=)
c.100432A= (p.Ser33478=)
c.100429A= (p.Ser33477=)
c.97471A= (p.Ser32491=)
c.79087A= (p.Ser26363=)
c.100582A= (p.Ser33528=)
c.100579A= (p.Ser33527=)
c.100012A= (p.Ser33338=)
c.97354A= (p.Ser32452=)
c.97273A= (p.Ser32425=)
c.79036A= (p.Ser26346=)
c.68890A= (p.Ser22964=)
2g.178530475C>ACA349406946TTN,TTN-AS1c.98436G>T (p.Lys32812Asn)
c.79521G>T (p.Lys26507Asn)
c.79320G>T (p.Lys26440Asn)
c.78945G>T (p.Lys26315Asn)
c.106140G>T (p.Lys35380Asn)
c.101217G>T (p.Lys33739Asn)
n.446+6839C>A
n.220-5257C>A
c.105237G>T (p.Lys35079Asn)
c.79131G>T (p.Lys26377Asn)
c.78990G>T (p.Lys26330Asn)
c.105033G>T (p.Lys35011Asn)
c.100431G>T (p.Lys33477Asn)
c.100428G>T (p.Lys33476Asn)
c.97470G>T (p.Lys32490Asn)
c.79086G>T (p.Lys26362Asn)
c.100581G>T (p.Lys33527Asn)
c.100578G>T (p.Lys33526Asn)
c.100011G>T (p.Lys33337Asn)
c.97353G>T (p.Lys32451Asn)
c.97272G>T (p.Lys32424Asn)
c.79035G>T (p.Lys26345Asn)
c.68889G>T (p.Lys22963Asn)
2g.178530475C>GCA349406947TTN,TTN-AS1c.98436G>C (p.Lys32812Asn)
c.79521G>C (p.Lys26507Asn)
c.79320G>C (p.Lys26440Asn)
c.78945G>C (p.Lys26315Asn)
c.106140G>C (p.Lys35380Asn)
c.101217G>C (p.Lys33739Asn)
n.446+6839C>G
n.220-5257C>G
c.105237G>C (p.Lys35079Asn)
c.79131G>C (p.Lys26377Asn)
c.78990G>C (p.Lys26330Asn)
c.105033G>C (p.Lys35011Asn)
c.100431G>C (p.Lys33477Asn)
c.100428G>C (p.Lys33476Asn)
c.97470G>C (p.Lys32490Asn)
c.79086G>C (p.Lys26362Asn)
c.100581G>C (p.Lys33527Asn)
c.100578G>C (p.Lys33526Asn)
c.100011G>C (p.Lys33337Asn)
c.97353G>C (p.Lys32451Asn)
c.97272G>C (p.Lys32424Asn)
c.79035G>C (p.Lys26345Asn)
c.68889G>C (p.Lys22963Asn)
2g.178530475C>TCA430235052TTN,TTN-AS1c.98436G>A (p.Lys32812=)
c.79521G>A (p.Lys26507=)
c.79320G>A (p.Lys26440=)
c.78945G>A (p.Lys26315=)
c.106140G>A (p.Lys35380=)
c.101217G>A (p.Lys33739=)
n.446+6839C>T
n.220-5257C>T
c.105237G>A (p.Lys35079=)
c.79131G>A (p.Lys26377=)
c.78990G>A (p.Lys26330=)
c.105033G>A (p.Lys35011=)
c.100431G>A (p.Lys33477=)
c.100428G>A (p.Lys33476=)
c.97470G>A (p.Lys32490=)
c.79086G>A (p.Lys26362=)
c.100581G>A (p.Lys33527=)
c.100578G>A (p.Lys33526=)
c.100011G>A (p.Lys33337=)
c.97353G>A (p.Lys32451=)
c.97272G>A (p.Lys32424=)
c.79035G>A (p.Lys26345=)
c.68889G>A (p.Lys22963=)
 gnomAD v4
2g.178530476T>ACA349406948TTN,TTN-AS1c.98435A>T (p.Lys32812Met)
c.79520A>T (p.Lys26507Met)
c.79319A>T (p.Lys26440Met)
c.78944A>T (p.Lys26315Met)
c.106139A>T (p.Lys35380Met)
c.101216A>T (p.Lys33739Met)
n.446+6840T>A
n.220-5256T>A
c.105236A>T (p.Lys35079Met)
c.79130A>T (p.Lys26377Met)
c.78989A>T (p.Lys26330Met)
c.105032A>T (p.Lys35011Met)
c.100430A>T (p.Lys33477Met)
c.100427A>T (p.Lys33476Met)
c.97469A>T (p.Lys32490Met)
c.79085A>T (p.Lys26362Met)
c.100580A>T (p.Lys33527Met)
c.100577A>T (p.Lys33526Met)
c.100010A>T (p.Lys33337Met)
c.97352A>T (p.Lys32451Met)
c.97271A>T (p.Lys32424Met)
c.79034A>T (p.Lys26345Met)
c.68888A>T (p.Lys22963Met)
2g.178530476T>CCA349406949TTN,TTN-AS1c.98435A>G (p.Lys32812Arg)
c.79520A>G (p.Lys26507Arg)
c.79319A>G (p.Lys26440Arg)
c.78944A>G (p.Lys26315Arg)
c.106139A>G (p.Lys35380Arg)
c.101216A>G (p.Lys33739Arg)
n.446+6840T>C
n.220-5256T>C
c.105236A>G (p.Lys35079Arg)
c.79130A>G (p.Lys26377Arg)
c.78989A>G (p.Lys26330Arg)
c.105032A>G (p.Lys35011Arg)
c.100430A>G (p.Lys33477Arg)
c.100427A>G (p.Lys33476Arg)
c.97469A>G (p.Lys32490Arg)
c.79085A>G (p.Lys26362Arg)
c.100580A>G (p.Lys33527Arg)
c.100577A>G (p.Lys33526Arg)
c.100010A>G (p.Lys33337Arg)
c.97352A>G (p.Lys32451Arg)
c.97271A>G (p.Lys32424Arg)
c.79034A>G (p.Lys26345Arg)
c.68888A>G (p.Lys22963Arg)
2g.178530476T>GCA349406950TTN,TTN-AS1c.98435A>C (p.Lys32812Thr)
c.79520A>C (p.Lys26507Thr)
c.79319A>C (p.Lys26440Thr)
c.78944A>C (p.Lys26315Thr)
c.106139A>C (p.Lys35380Thr)
c.101216A>C (p.Lys33739Thr)
n.446+6840T>G
n.220-5256T>G
c.105236A>C (p.Lys35079Thr)
c.79130A>C (p.Lys26377Thr)
c.78989A>C (p.Lys26330Thr)
c.105032A>C (p.Lys35011Thr)
c.100430A>C (p.Lys33477Thr)
c.100427A>C (p.Lys33476Thr)
c.97469A>C (p.Lys32490Thr)
c.79085A>C (p.Lys26362Thr)
c.100580A>C (p.Lys33527Thr)
c.100577A>C (p.Lys33526Thr)
c.100010A>C (p.Lys33337Thr)
c.97352A>C (p.Lys32451Thr)
c.97271A>C (p.Lys32424Thr)
c.79034A>C (p.Lys26345Thr)
c.68888A>C (p.Lys22963Thr)
2g.178530476_178530478dupCA2573134091TTN,TTN-AS1c.98433_98435dup (p.Phe32811_Lys32812insAsn)
c.79518_79520dup (p.Phe26506_Lys26507insAsn)
c.79317_79319dup (p.Phe26439_Lys26440insAsn)
c.78942_78944dup (p.Phe26314_Lys26315insAsn)
c.106137_106139dup (p.Phe35379_Lys35380insAsn)
c.101214_101216dup (p.Phe33738_Lys33739insAsn)
n.446+6840_446+6842dup
n.220-5256_220-5254dup
c.105234_105236dup (p.Phe35078_Lys35079insAsn)
c.79128_79130dup (p.Phe26376_Lys26377insAsn)
c.78987_78989dup (p.Phe26329_Lys26330insAsn)
c.105030_105032dup (p.Phe35010_Lys35011insAsn)
c.100428_100430dup (p.Phe33476_Lys33477insAsn)
c.100425_100427dup (p.Phe33475_Lys33476insAsn)
c.97467_97469dup (p.Phe32489_Lys32490insAsn)
c.79083_79085dup (p.Phe26361_Lys26362insAsn)
c.100578_100580dup (p.Phe33526_Lys33527insAsn)
c.100575_100577dup (p.Phe33525_Lys33526insAsn)
c.100008_100010dup (p.Phe33336_Lys33337insAsn)
c.97350_97352dup (p.Phe32450_Lys32451insAsn)
c.97269_97271dup (p.Phe32423_Lys32424insAsn)
c.79032_79034dup (p.Phe26344_Lys26345insAsn)
c.68886_68888dup (p.Phe22962_Lys22963insAsn)
 ClinVar dbSNP
2g.178530477T>ACA349406951TTN,TTN-AS1c.98434A>T (p.Lys32812Ter)
c.79519A>T (p.Lys26507Ter)
c.79318A>T (p.Lys26440Ter)
c.78943A>T (p.Lys26315Ter)
c.106138A>T (p.Lys35380Ter)
c.101215A>T (p.Lys33739Ter)
n.446+6841T>A
n.220-5255T>A
c.105235A>T (p.Lys35079Ter)
c.79129A>T (p.Lys26377Ter)
c.78988A>T (p.Lys26330Ter)
c.105031A>T (p.Lys35011Ter)
c.100429A>T (p.Lys33477Ter)
c.100426A>T (p.Lys33476Ter)
c.97468A>T (p.Lys32490Ter)
c.79084A>T (p.Lys26362Ter)
c.100579A>T (p.Lys33527Ter)
c.100576A>T (p.Lys33526Ter)
c.100009A>T (p.Lys33337Ter)
c.97351A>T (p.Lys32451Ter)
c.97270A>T (p.Lys32424Ter)
c.79033A>T (p.Lys26345Ter)
c.68887A>T (p.Lys22963Ter)
2g.178530477T>CCA349406952TTN,TTN-AS1c.98434A>G (p.Lys32812Glu)
c.79519A>G (p.Lys26507Glu)
c.79318A>G (p.Lys26440Glu)
c.78943A>G (p.Lys26315Glu)
c.106138A>G (p.Lys35380Glu)
c.101215A>G (p.Lys33739Glu)
n.446+6841T>C
n.220-5255T>C
c.105235A>G (p.Lys35079Glu)
c.79129A>G (p.Lys26377Glu)
c.78988A>G (p.Lys26330Glu)
c.105031A>G (p.Lys35011Glu)
c.100429A>G (p.Lys33477Glu)
c.100426A>G (p.Lys33476Glu)
c.97468A>G (p.Lys32490Glu)
c.79084A>G (p.Lys26362Glu)
c.100579A>G (p.Lys33527Glu)
c.100576A>G (p.Lys33526Glu)
c.100009A>G (p.Lys33337Glu)
c.97351A>G (p.Lys32451Glu)
c.97270A>G (p.Lys32424Glu)
c.79033A>G (p.Lys26345Glu)
c.68887A>G (p.Lys22963Glu)
2g.178530477T>GCA349406953TTN,TTN-AS1c.98434A>C (p.Lys32812Gln)
c.79519A>C (p.Lys26507Gln)
c.79318A>C (p.Lys26440Gln)
c.78943A>C (p.Lys26315Gln)
c.106138A>C (p.Lys35380Gln)
c.101215A>C (p.Lys33739Gln)
n.446+6841T>G
n.220-5255T>G
c.105235A>C (p.Lys35079Gln)
c.79129A>C (p.Lys26377Gln)
c.78988A>C (p.Lys26330Gln)
c.105031A>C (p.Lys35011Gln)
c.100429A>C (p.Lys33477Gln)
c.100426A>C (p.Lys33476Gln)
c.97468A>C (p.Lys32490Gln)
c.79084A>C (p.Lys26362Gln)
c.100579A>C (p.Lys33527Gln)
c.100576A>C (p.Lys33526Gln)
c.100009A>C (p.Lys33337Gln)
c.97351A>C (p.Lys32451Gln)
c.97270A>C (p.Lys32424Gln)
c.79033A>C (p.Lys26345Gln)
c.68887A>C (p.Lys22963Gln)
2g.178530477T=CA1310514663TTN,TTN-AS1c.98434A= (p.Lys32812=)
c.79519A= (p.Lys26507=)
c.79318A= (p.Lys26440=)
c.78943A= (p.Lys26315=)
c.106138A= (p.Lys35380=)
c.101215A= (p.Lys33739=)
n.446+6841T=
n.220-5255T=
c.105235A= (p.Lys35079=)
c.79129A= (p.Lys26377=)
c.78988A= (p.Lys26330=)
c.105031A= (p.Lys35011=)
c.100429A= (p.Lys33477=)
c.100426A= (p.Lys33476=)
c.97468A= (p.Lys32490=)
c.79084A= (p.Lys26362=)
c.100579A= (p.Lys33527=)
c.100576A= (p.Lys33526=)
c.100009A= (p.Lys33337=)
c.97351A= (p.Lys32451=)
c.97270A= (p.Lys32424=)
c.79033A= (p.Lys26345=)
c.68887A= (p.Lys22963=)
2g.178530478A>CCA349406954TTN,TTN-AS1c.98433T>G (p.Phe32811Leu)
c.79518T>G (p.Phe26506Leu)
c.79317T>G (p.Phe26439Leu)
c.78942T>G (p.Phe26314Leu)
c.106137T>G (p.Phe35379Leu)
c.101214T>G (p.Phe33738Leu)
n.446+6842A>C
n.220-5254A>C
c.105234T>G (p.Phe35078Leu)
c.79128T>G (p.Phe26376Leu)
c.78987T>G (p.Phe26329Leu)
c.105030T>G (p.Phe35010Leu)
c.100428T>G (p.Phe33476Leu)
c.100425T>G (p.Phe33475Leu)
c.97467T>G (p.Phe32489Leu)
c.79083T>G (p.Phe26361Leu)
c.100578T>G (p.Phe33526Leu)
c.100575T>G (p.Phe33525Leu)
c.100008T>G (p.Phe33336Leu)
c.97350T>G (p.Phe32450Leu)
c.97269T>G (p.Phe32423Leu)
c.79032T>G (p.Phe26344Leu)
c.68886T>G (p.Phe22962Leu)
2g.178530478A>GCA430235058TTN,TTN-AS1c.98433T>C (p.Phe32811=)
c.79518T>C (p.Phe26506=)
c.79317T>C (p.Phe26439=)
c.78942T>C (p.Phe26314=)
c.106137T>C (p.Phe35379=)
c.101214T>C (p.Phe33738=)
n.446+6842A>G
n.220-5254A>G
c.105234T>C (p.Phe35078=)
c.79128T>C (p.Phe26376=)
c.78987T>C (p.Phe26329=)
c.105030T>C (p.Phe35010=)
c.100428T>C (p.Phe33476=)
c.100425T>C (p.Phe33475=)
c.97467T>C (p.Phe32489=)
c.79083T>C (p.Phe26361=)
c.100578T>C (p.Phe33526=)
c.100575T>C (p.Phe33525=)
c.100008T>C (p.Phe33336=)
c.97350T>C (p.Phe32450=)
c.97269T>C (p.Phe32423=)
c.79032T>C (p.Phe26344=)
c.68886T>C (p.Phe22962=)
2g.178530478A>TCA349406955TTN,TTN-AS1c.98433T>A (p.Phe32811Leu)
c.79518T>A (p.Phe26506Leu)
c.79317T>A (p.Phe26439Leu)
c.78942T>A (p.Phe26314Leu)
c.106137T>A (p.Phe35379Leu)
c.101214T>A (p.Phe33738Leu)
n.446+6842A>T
n.220-5254A>T
c.105234T>A (p.Phe35078Leu)
c.79128T>A (p.Phe26376Leu)
c.78987T>A (p.Phe26329Leu)
c.105030T>A (p.Phe35010Leu)
c.100428T>A (p.Phe33476Leu)
c.100425T>A (p.Phe33475Leu)
c.97467T>A (p.Phe32489Leu)
c.79083T>A (p.Phe26361Leu)
c.100578T>A (p.Phe33526Leu)
c.100575T>A (p.Phe33525Leu)
c.100008T>A (p.Phe33336Leu)
c.97350T>A (p.Phe32450Leu)
c.97269T>A (p.Phe32423Leu)
c.79032T>A (p.Phe26344Leu)
c.68886T>A (p.Phe22962Leu)
2g.178530480dupCA10606783TTN,TTN-AS1c.98433dup (p.Lys32812Ter)
c.79518dup (p.Lys26507Ter)
c.79317dup (p.Lys26440Ter)
c.78942dup (p.Lys26315Ter)
c.106137dup (p.Lys35380Ter)
c.101214dup (p.Lys33739Ter)
n.446+6844dup
n.220-5252dup
c.105234dup (p.Lys35079Ter)
c.79128dup (p.Lys26377Ter)
c.78987dup (p.Lys26330Ter)
c.105030dup (p.Lys35011Ter)
c.100428dup (p.Lys33477Ter)
c.100425dup (p.Lys33476Ter)
c.97467dup (p.Lys32490Ter)
c.79083dup (p.Lys26362Ter)
c.100578dup (p.Lys33527Ter)
c.100575dup (p.Lys33526Ter)
c.100008dup (p.Lys33337Ter)
c.97350dup (p.Lys32451Ter)
c.97269dup (p.Lys32424Ter)
c.79032dup (p.Lys26345Ter)
c.68886dup (p.Lys22963Ter)
 ClinVar dbSNP
2g.178530479A>CCA349406956TTN,TTN-AS1c.98432T>G (p.Phe32811Cys)
c.79517T>G (p.Phe26506Cys)
c.79316T>G (p.Phe26439Cys)
c.78941T>G (p.Phe26314Cys)
c.106136T>G (p.Phe35379Cys)
c.101213T>G (p.Phe33738Cys)
n.446+6843A>C
n.220-5253A>C
c.105233T>G (p.Phe35078Cys)
c.79127T>G (p.Phe26376Cys)
c.78986T>G (p.Phe26329Cys)
c.105029T>G (p.Phe35010Cys)
c.100427T>G (p.Phe33476Cys)
c.100424T>G (p.Phe33475Cys)
c.97466T>G (p.Phe32489Cys)
c.79082T>G (p.Phe26361Cys)
c.100577T>G (p.Phe33526Cys)
c.100574T>G (p.Phe33525Cys)
c.100007T>G (p.Phe33336Cys)
c.97349T>G (p.Phe32450Cys)
c.97268T>G (p.Phe32423Cys)
c.79031T>G (p.Phe26344Cys)
c.68885T>G (p.Phe22962Cys)
2g.178530479A>GCA349406957TTN,TTN-AS1c.98432T>C (p.Phe32811Ser)
c.79517T>C (p.Phe26506Ser)
c.79316T>C (p.Phe26439Ser)
c.78941T>C (p.Phe26314Ser)
c.106136T>C (p.Phe35379Ser)
c.101213T>C (p.Phe33738Ser)
n.446+6843A>G
n.220-5253A>G
c.105233T>C (p.Phe35078Ser)
c.79127T>C (p.Phe26376Ser)
c.78986T>C (p.Phe26329Ser)
c.105029T>C (p.Phe35010Ser)
c.100427T>C (p.Phe33476Ser)
c.100424T>C (p.Phe33475Ser)
c.97466T>C (p.Phe32489Ser)
c.79082T>C (p.Phe26361Ser)
c.100577T>C (p.Phe33526Ser)
c.100574T>C (p.Phe33525Ser)
c.100007T>C (p.Phe33336Ser)
c.97349T>C (p.Phe32450Ser)
c.97268T>C (p.Phe32423Ser)
c.79031T>C (p.Phe26344Ser)
c.68885T>C (p.Phe22962Ser)
2g.178530479A>TCA349406958TTN,TTN-AS1c.98432T>A (p.Phe32811Tyr)
c.79517T>A (p.Phe26506Tyr)
c.79316T>A (p.Phe26439Tyr)
c.78941T>A (p.Phe26314Tyr)
c.106136T>A (p.Phe35379Tyr)
c.101213T>A (p.Phe33738Tyr)
n.446+6843A>T
n.220-5253A>T
c.105233T>A (p.Phe35078Tyr)
c.79127T>A (p.Phe26376Tyr)
c.78986T>A (p.Phe26329Tyr)
c.105029T>A (p.Phe35010Tyr)
c.100427T>A (p.Phe33476Tyr)
c.100424T>A (p.Phe33475Tyr)
c.97466T>A (p.Phe32489Tyr)
c.79082T>A (p.Phe26361Tyr)
c.100577T>A (p.Phe33526Tyr)
c.100574T>A (p.Phe33525Tyr)
c.100007T>A (p.Phe33336Tyr)
c.97349T>A (p.Phe32450Tyr)
c.97268T>A (p.Phe32423Tyr)
c.79031T>A (p.Phe26344Tyr)
c.68885T>A (p.Phe22962Tyr)
2g.178530480A>CCA349406960TTN,TTN-AS1c.98431T>G (p.Phe32811Val)
c.79516T>G (p.Phe26506Val)
c.79315T>G (p.Phe26439Val)
c.78940T>G (p.Phe26314Val)
c.106135T>G (p.Phe35379Val)
c.101212T>G (p.Phe33738Val)
n.446+6844A>C
n.220-5252A>C
c.105232T>G (p.Phe35078Val)
c.79126T>G (p.Phe26376Val)
c.78985T>G (p.Phe26329Val)
c.105028T>G (p.Phe35010Val)
c.100426T>G (p.Phe33476Val)
c.100423T>G (p.Phe33475Val)
c.97465T>G (p.Phe32489Val)
c.79081T>G (p.Phe26361Val)
c.100576T>G (p.Phe33526Val)
c.100573T>G (p.Phe33525Val)
c.100006T>G (p.Phe33336Val)
c.97348T>G (p.Phe32450Val)
c.97267T>G (p.Phe32423Val)
c.79030T>G (p.Phe26344Val)
c.68884T>G (p.Phe22962Val)
2g.178530480A>GCA349406961TTN,TTN-AS1c.98431T>C (p.Phe32811Leu)
c.79516T>C (p.Phe26506Leu)
c.79315T>C (p.Phe26439Leu)
c.78940T>C (p.Phe26314Leu)
c.106135T>C (p.Phe35379Leu)
c.101212T>C (p.Phe33738Leu)
n.446+6844A>G
n.220-5252A>G
c.105232T>C (p.Phe35078Leu)
c.79126T>C (p.Phe26376Leu)
c.78985T>C (p.Phe26329Leu)
c.105028T>C (p.Phe35010Leu)
c.100426T>C (p.Phe33476Leu)
c.100423T>C (p.Phe33475Leu)
c.97465T>C (p.Phe32489Leu)
c.79081T>C (p.Phe26361Leu)
c.100576T>C (p.Phe33526Leu)
c.100573T>C (p.Phe33525Leu)
c.100006T>C (p.Phe33336Leu)
c.97348T>C (p.Phe32450Leu)
c.97267T>C (p.Phe32423Leu)
c.79030T>C (p.Phe26344Leu)
c.68884T>C (p.Phe22962Leu)
2g.178530480A>TCA349406959TTN,TTN-AS1c.98431T>A (p.Phe32811Ile)
c.79516T>A (p.Phe26506Ile)
c.79315T>A (p.Phe26439Ile)
c.78940T>A (p.Phe26314Ile)
c.106135T>A (p.Phe35379Ile)
c.101212T>A (p.Phe33738Ile)
n.446+6844A>T
n.220-5252A>T
c.105232T>A (p.Phe35078Ile)
c.79126T>A (p.Phe26376Ile)
c.78985T>A (p.Phe26329Ile)
c.105028T>A (p.Phe35010Ile)
c.100426T>A (p.Phe33476Ile)
c.100423T>A (p.Phe33475Ile)
c.97465T>A (p.Phe32489Ile)
c.79081T>A (p.Phe26361Ile)
c.100576T>A (p.Phe33526Ile)
c.100573T>A (p.Phe33525Ile)
c.100006T>A (p.Phe33336Ile)
c.97348T>A (p.Phe32450Ile)
c.97267T>A (p.Phe32423Ile)
c.79030T>A (p.Phe26344Ile)
c.68884T>A (p.Phe22962Ile)
2g.178530481G>ACA430235061TTN,TTN-AS1c.98430C>T (p.Ala32810=)
c.79515C>T (p.Ala26505=)
c.79314C>T (p.Ala26438=)
c.78939C>T (p.Ala26313=)
c.106134C>T (p.Ala35378=)
c.101211C>T (p.Ala33737=)
n.446+6845G>A
n.220-5251G>A
c.105231C>T (p.Ala35077=)
c.79125C>T (p.Ala26375=)
c.78984C>T (p.Ala26328=)
c.105027C>T (p.Ala35009=)
c.100425C>T (p.Ala33475=)
c.100422C>T (p.Ala33474=)
c.97464C>T (p.Ala32488=)
c.79080C>T (p.Ala26360=)
c.100575C>T (p.Ala33525=)
c.100572C>T (p.Ala33524=)
c.100005C>T (p.Ala33335=)
c.97347C>T (p.Ala32449=)
c.97266C>T (p.Ala32422=)
c.79029C>T (p.Ala26343=)
c.68883C>T (p.Ala22961=)
2g.178530481G>CCA430235063TTN,TTN-AS1c.98430C>G (p.Ala32810=)
c.79515C>G (p.Ala26505=)
c.79314C>G (p.Ala26438=)
c.78939C>G (p.Ala26313=)
c.106134C>G (p.Ala35378=)
c.101211C>G (p.Ala33737=)
n.446+6845G>C
n.220-5251G>C
c.105231C>G (p.Ala35077=)
c.79125C>G (p.Ala26375=)
c.78984C>G (p.Ala26328=)
c.105027C>G (p.Ala35009=)
c.100425C>G (p.Ala33475=)
c.100422C>G (p.Ala33474=)
c.97464C>G (p.Ala32488=)
c.79080C>G (p.Ala26360=)
c.100575C>G (p.Ala33525=)
c.100572C>G (p.Ala33524=)
c.100005C>G (p.Ala33335=)
c.97347C>G (p.Ala32449=)
c.97266C>G (p.Ala32422=)
c.79029C>G (p.Ala26343=)
c.68883C>G (p.Ala22961=)
2g.178530481G=CA1310514666TTN,TTN-AS1c.98430C= (p.Ala32810=)
c.79515C= (p.Ala26505=)
c.79314C= (p.Ala26438=)
c.78939C= (p.Ala26313=)
c.106134C= (p.Ala35378=)
c.101211C= (p.Ala33737=)
n.446+6845G=
n.220-5251G=
c.105231C= (p.Ala35077=)
c.79125C= (p.Ala26375=)
c.78984C= (p.Ala26328=)
c.105027C= (p.Ala35009=)
c.100425C= (p.Ala33475=)
c.100422C= (p.Ala33474=)
c.97464C= (p.Ala32488=)
c.79080C= (p.Ala26360=)
c.100575C= (p.Ala33525=)
c.100572C= (p.Ala33524=)
c.100005C= (p.Ala33335=)
c.97347C= (p.Ala32449=)
c.97266C= (p.Ala32422=)
c.79029C= (p.Ala26343=)
c.68883C= (p.Ala22961=)
2g.178530481G>TCA1985158TTN,TTN-AS1c.98430C>A (p.Ala32810=)
c.79515C>A (p.Ala26505=)
c.79314C>A (p.Ala26438=)
c.78939C>A (p.Ala26313=)
c.106134C>A (p.Ala35378=)
c.101211C>A (p.Ala33737=)
n.446+6845G>T
n.220-5251G>T
c.105231C>A (p.Ala35077=)
c.79125C>A (p.Ala26375=)
c.78984C>A (p.Ala26328=)
c.105027C>A (p.Ala35009=)
c.100425C>A (p.Ala33475=)
c.100422C>A (p.Ala33474=)
c.97464C>A (p.Ala32488=)
c.79080C>A (p.Ala26360=)
c.100575C>A (p.Ala33525=)
c.100572C>A (p.Ala33524=)
c.100005C>A (p.Ala33335=)
c.97347C>A (p.Ala32449=)
c.97266C>A (p.Ala32422=)
c.79029C>A (p.Ala26343=)
c.68883C>A (p.Ala22961=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530482G>ACA1985159TTN,TTN-AS1c.98429C>T (p.Ala32810Val)
c.79514C>T (p.Ala26505Val)
c.79313C>T (p.Ala26438Val)
c.78938C>T (p.Ala26313Val)
c.106133C>T (p.Ala35378Val)
c.101210C>T (p.Ala33737Val)
n.446+6846G>A
n.220-5250G>A
c.105230C>T (p.Ala35077Val)
c.79124C>T (p.Ala26375Val)
c.78983C>T (p.Ala26328Val)
c.105026C>T (p.Ala35009Val)
c.100424C>T (p.Ala33475Val)
c.100421C>T (p.Ala33474Val)
c.97463C>T (p.Ala32488Val)
c.79079C>T (p.Ala26360Val)
c.100574C>T (p.Ala33525Val)
c.100571C>T (p.Ala33524Val)
c.100004C>T (p.Ala33335Val)
c.97346C>T (p.Ala32449Val)
c.97265C>T (p.Ala32422Val)
c.79028C>T (p.Ala26343Val)
c.68882C>T (p.Ala22961Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530482G>CCA311252TTN,TTN-AS1c.98429C>G (p.Ala32810Gly)
c.79514C>G (p.Ala26505Gly)
c.79313C>G (p.Ala26438Gly)
c.78938C>G (p.Ala26313Gly)
c.106133C>G (p.Ala35378Gly)
c.101210C>G (p.Ala33737Gly)
n.446+6846G>C
n.220-5250G>C
c.105230C>G (p.Ala35077Gly)
c.79124C>G (p.Ala26375Gly)
c.78983C>G (p.Ala26328Gly)
c.105026C>G (p.Ala35009Gly)
c.100424C>G (p.Ala33475Gly)
c.100421C>G (p.Ala33474Gly)
c.97463C>G (p.Ala32488Gly)
c.79079C>G (p.Ala26360Gly)
c.100574C>G (p.Ala33525Gly)
c.100571C>G (p.Ala33524Gly)
c.100004C>G (p.Ala33335Gly)
c.97346C>G (p.Ala32449Gly)
c.97265C>G (p.Ala32422Gly)
c.79028C>G (p.Ala26343Gly)
c.68882C>G (p.Ala22961Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530482G=CA1310514670TTN,TTN-AS1c.98429C= (p.Ala32810=)
c.79514C= (p.Ala26505=)
c.79313C= (p.Ala26438=)
c.78938C= (p.Ala26313=)
c.106133C= (p.Ala35378=)
c.101210C= (p.Ala33737=)
n.446+6846G=
n.220-5250G=
c.105230C= (p.Ala35077=)
c.79124C= (p.Ala26375=)
c.78983C= (p.Ala26328=)
c.105026C= (p.Ala35009=)
c.100424C= (p.Ala33475=)
c.100421C= (p.Ala33474=)
c.97463C= (p.Ala32488=)
c.79079C= (p.Ala26360=)
c.100574C= (p.Ala33525=)
c.100571C= (p.Ala33524=)
c.100004C= (p.Ala33335=)
c.97346C= (p.Ala32449=)
c.97265C= (p.Ala32422=)
c.79028C= (p.Ala26343=)
c.68882C= (p.Ala22961=)
2g.178530482G>TCA349406962TTN,TTN-AS1c.98429C>A (p.Ala32810Asp)
c.79514C>A (p.Ala26505Asp)
c.79313C>A (p.Ala26438Asp)
c.78938C>A (p.Ala26313Asp)
c.106133C>A (p.Ala35378Asp)
c.101210C>A (p.Ala33737Asp)
n.446+6846G>T
n.220-5250G>T
c.105230C>A (p.Ala35077Asp)
c.79124C>A (p.Ala26375Asp)
c.78983C>A (p.Ala26328Asp)
c.105026C>A (p.Ala35009Asp)
c.100424C>A (p.Ala33475Asp)
c.100421C>A (p.Ala33474Asp)
c.97463C>A (p.Ala32488Asp)
c.79079C>A (p.Ala26360Asp)
c.100574C>A (p.Ala33525Asp)
c.100571C>A (p.Ala33524Asp)
c.100004C>A (p.Ala33335Asp)
c.97346C>A (p.Ala32449Asp)
c.97265C>A (p.Ala32422Asp)
c.79028C>A (p.Ala26343Asp)
c.68882C>A (p.Ala22961Asp)
 gnomAD v4
2g.178530482_178530483insTCTCTTTCA538434967TTN,TTN-AS1c.98428_98429insAAAGAGA (p.Ala32810GlufsTer5)
c.79513_79514insAAAGAGA (p.Ala26505GlufsTer5)
c.79312_79313insAAAGAGA (p.Ala26438GlufsTer5)
c.78937_78938insAAAGAGA (p.Ala26313GlufsTer5)
c.106132_106133insAAAGAGA (p.Ala35378GlufsTer5)
c.101209_101210insAAAGAGA (p.Ala33737GlufsTer5)
n.446+6846_446+6847insTCTCTTT
n.220-5250_220-5249insTCTCTTT
c.105229_105230insAAAGAGA (p.Ala35077GlufsTer5)
c.79123_79124insAAAGAGA (p.Ala26375GlufsTer5)
c.78982_78983insAAAGAGA (p.Ala26328GlufsTer5)
c.105025_105026insAAAGAGA (p.Ala35009GlufsTer5)
c.100423_100424insAAAGAGA (p.Ala33475GlufsTer5)
c.100420_100421insAAAGAGA (p.Ala33474GlufsTer5)
c.97462_97463insAAAGAGA (p.Ala32488GlufsTer5)
c.79078_79079insAAAGAGA (p.Ala26360GlufsTer5)
c.100573_100574insAAAGAGA (p.Ala33525GlufsTer5)
c.100570_100571insAAAGAGA (p.Ala33524GlufsTer5)
c.100003_100004insAAAGAGA (p.Ala33335GlufsTer5)
c.97345_97346insAAAGAGA (p.Ala32449GlufsTer5)
c.97264_97265insAAAGAGA (p.Ala32422GlufsTer5)
c.79027_79028insAAAGAGA (p.Ala26343GlufsTer5)
c.68881_68882insAAAGAGA (p.Ala22961GlufsTer5)
 gnomAD v2
2g.178530483C>ACA349406963TTN,TTN-AS1c.98428G>T (p.Ala32810Ser)
c.79513G>T (p.Ala26505Ser)
c.79312G>T (p.Ala26438Ser)
c.78937G>T (p.Ala26313Ser)
c.106132G>T (p.Ala35378Ser)
c.101209G>T (p.Ala33737Ser)
n.446+6847C>A
n.220-5249C>A
c.105229G>T (p.Ala35077Ser)
c.79123G>T (p.Ala26375Ser)
c.78982G>T (p.Ala26328Ser)
c.105025G>T (p.Ala35009Ser)
c.100423G>T (p.Ala33475Ser)
c.100420G>T (p.Ala33474Ser)
c.97462G>T (p.Ala32488Ser)
c.79078G>T (p.Ala26360Ser)
c.100573G>T (p.Ala33525Ser)
c.100570G>T (p.Ala33524Ser)
c.100003G>T (p.Ala33335Ser)
c.97345G>T (p.Ala32449Ser)
c.97264G>T (p.Ala32422Ser)
c.79027G>T (p.Ala26343Ser)
c.68881G>T (p.Ala22961Ser)
2g.178530483C>GCA349406964TTN,TTN-AS1c.98428G>C (p.Ala32810Pro)
c.79513G>C (p.Ala26505Pro)
c.79312G>C (p.Ala26438Pro)
c.78937G>C (p.Ala26313Pro)
c.106132G>C (p.Ala35378Pro)
c.101209G>C (p.Ala33737Pro)
n.446+6847C>G
n.220-5249C>G
c.105229G>C (p.Ala35077Pro)
c.79123G>C (p.Ala26375Pro)
c.78982G>C (p.Ala26328Pro)
c.105025G>C (p.Ala35009Pro)
c.100423G>C (p.Ala33475Pro)
c.100420G>C (p.Ala33474Pro)
c.97462G>C (p.Ala32488Pro)
c.79078G>C (p.Ala26360Pro)
c.100573G>C (p.Ala33525Pro)
c.100570G>C (p.Ala33524Pro)
c.100003G>C (p.Ala33335Pro)
c.97345G>C (p.Ala32449Pro)
c.97264G>C (p.Ala32422Pro)
c.79027G>C (p.Ala26343Pro)
c.68881G>C (p.Ala22961Pro)
2g.178530483C>TCA349406965TTN,TTN-AS1c.98428G>A (p.Ala32810Thr)
c.79513G>A (p.Ala26505Thr)
c.79312G>A (p.Ala26438Thr)
c.78937G>A (p.Ala26313Thr)
c.106132G>A (p.Ala35378Thr)
c.101209G>A (p.Ala33737Thr)
n.446+6847C>T
n.220-5249C>T
c.105229G>A (p.Ala35077Thr)
c.79123G>A (p.Ala26375Thr)
c.78982G>A (p.Ala26328Thr)
c.105025G>A (p.Ala35009Thr)
c.100423G>A (p.Ala33475Thr)
c.100420G>A (p.Ala33474Thr)
c.97462G>A (p.Ala32488Thr)
c.79078G>A (p.Ala26360Thr)
c.100573G>A (p.Ala33525Thr)
c.100570G>A (p.Ala33524Thr)
c.100003G>A (p.Ala33335Thr)
c.97345G>A (p.Ala32449Thr)
c.97264G>A (p.Ala32422Thr)
c.79027G>A (p.Ala26343Thr)
c.68881G>A (p.Ala22961Thr)
 gnomAD v4

Number of alleles fetched