Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched