Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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

Number of alleles fetched