Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178527533C>ACA349400020TTN,TTN-AS1c.99889G>T (p.Glu33297Ter)
c.80974G>T (p.Glu26992Ter)
c.80773G>T (p.Glu26925Ter)
c.80398G>T (p.Glu26800Ter)
c.107593G>T (p.Glu35865Ter)
c.102670G>T (p.Glu34224Ter)
n.446+3897C>A
n.219+3897C>A
c.106690G>T (p.Glu35564Ter)
c.80584G>T (p.Glu26862Ter)
c.80443G>T (p.Glu26815Ter)
c.106486G>T (p.Glu35496Ter)
c.101884G>T (p.Glu33962Ter)
c.101881G>T (p.Glu33961Ter)
c.98923G>T (p.Glu32975Ter)
c.80539G>T (p.Glu26847Ter)
c.102034G>T (p.Glu34012Ter)
c.102031G>T (p.Glu34011Ter)
c.101464G>T (p.Glu33822Ter)
c.98806G>T (p.Glu32936Ter)
c.98725G>T (p.Glu32909Ter)
c.80488G>T (p.Glu26830Ter)
c.70342G>T (p.Glu23448Ter)
2g.178527533C=CA1310508169TTN,TTN-AS1c.99889G= (p.Glu33297=)
c.80974G= (p.Glu26992=)
c.80773G= (p.Glu26925=)
c.80398G= (p.Glu26800=)
c.107593G= (p.Glu35865=)
c.102670G= (p.Glu34224=)
n.446+3897C=
n.219+3897C=
c.106690G= (p.Glu35564=)
c.80584G= (p.Glu26862=)
c.80443G= (p.Glu26815=)
c.106486G= (p.Glu35496=)
c.101884G= (p.Glu33962=)
c.101881G= (p.Glu33961=)
c.98923G= (p.Glu32975=)
c.80539G= (p.Glu26847=)
c.102034G= (p.Glu34012=)
c.102031G= (p.Glu34011=)
c.101464G= (p.Glu33822=)
c.98806G= (p.Glu32936=)
c.98725G= (p.Glu32909=)
c.80488G= (p.Glu26830=)
c.70342G= (p.Glu23448=)
2g.178527533C>GCA349400021TTN,TTN-AS1c.99889G>C (p.Glu33297Gln)
c.80974G>C (p.Glu26992Gln)
c.80773G>C (p.Glu26925Gln)
c.80398G>C (p.Glu26800Gln)
c.107593G>C (p.Glu35865Gln)
c.102670G>C (p.Glu34224Gln)
n.446+3897C>G
n.219+3897C>G
c.106690G>C (p.Glu35564Gln)
c.80584G>C (p.Glu26862Gln)
c.80443G>C (p.Glu26815Gln)
c.106486G>C (p.Glu35496Gln)
c.101884G>C (p.Glu33962Gln)
c.101881G>C (p.Glu33961Gln)
c.98923G>C (p.Glu32975Gln)
c.80539G>C (p.Glu26847Gln)
c.102034G>C (p.Glu34012Gln)
c.102031G>C (p.Glu34011Gln)
c.101464G>C (p.Glu33822Gln)
c.98806G>C (p.Glu32936Gln)
c.98725G>C (p.Glu32909Gln)
c.80488G>C (p.Glu26830Gln)
c.70342G>C (p.Glu23448Gln)
2g.178527533C>TCA1984925TTN,TTN-AS1c.99889G>A (p.Glu33297Lys)
c.80974G>A (p.Glu26992Lys)
c.80773G>A (p.Glu26925Lys)
c.80398G>A (p.Glu26800Lys)
c.107593G>A (p.Glu35865Lys)
c.102670G>A (p.Glu34224Lys)
n.446+3897C>T
n.219+3897C>T
c.106690G>A (p.Glu35564Lys)
c.80584G>A (p.Glu26862Lys)
c.80443G>A (p.Glu26815Lys)
c.106486G>A (p.Glu35496Lys)
c.101884G>A (p.Glu33962Lys)
c.101881G>A (p.Glu33961Lys)
c.98923G>A (p.Glu32975Lys)
c.80539G>A (p.Glu26847Lys)
c.102034G>A (p.Glu34012Lys)
c.102031G>A (p.Glu34011Lys)
c.101464G>A (p.Glu33822Lys)
c.98806G>A (p.Glu32936Lys)
c.98725G>A (p.Glu32909Lys)
c.80488G>A (p.Glu26830Lys)
c.70342G>A (p.Glu23448Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527534T>ACA430234300TTN,TTN-AS1c.99888A>T (p.Val33296=)
c.80973A>T (p.Val26991=)
c.80772A>T (p.Val26924=)
c.80397A>T (p.Val26799=)
c.107592A>T (p.Val35864=)
c.102669A>T (p.Val34223=)
n.446+3898T>A
n.219+3898T>A
c.106689A>T (p.Val35563=)
c.80583A>T (p.Val26861=)
c.80442A>T (p.Val26814=)
c.106485A>T (p.Val35495=)
c.101883A>T (p.Val33961=)
c.101880A>T (p.Val33960=)
c.98922A>T (p.Val32974=)
c.80538A>T (p.Val26846=)
c.102033A>T (p.Val34011=)
c.102030A>T (p.Val34010=)
c.101463A>T (p.Val33821=)
c.98805A>T (p.Val32935=)
c.98724A>T (p.Val32908=)
c.80487A>T (p.Val26829=)
c.70341A>T (p.Val23447=)
2g.178527534T>CCA430234301TTN,TTN-AS1c.99888A>G (p.Val33296=)
c.80973A>G (p.Val26991=)
c.80772A>G (p.Val26924=)
c.80397A>G (p.Val26799=)
c.107592A>G (p.Val35864=)
c.102669A>G (p.Val34223=)
n.446+3898T>C
n.219+3898T>C
c.106689A>G (p.Val35563=)
c.80583A>G (p.Val26861=)
c.80442A>G (p.Val26814=)
c.106485A>G (p.Val35495=)
c.101883A>G (p.Val33961=)
c.101880A>G (p.Val33960=)
c.98922A>G (p.Val32974=)
c.80538A>G (p.Val26846=)
c.102033A>G (p.Val34011=)
c.102030A>G (p.Val34010=)
c.101463A>G (p.Val33821=)
c.98805A>G (p.Val32935=)
c.98724A>G (p.Val32908=)
c.80487A>G (p.Val26829=)
c.70341A>G (p.Val23447=)
2g.178527534T>GCA430234304TTN,TTN-AS1c.99888A>C (p.Val33296=)
c.80973A>C (p.Val26991=)
c.80772A>C (p.Val26924=)
c.80397A>C (p.Val26799=)
c.107592A>C (p.Val35864=)
c.102669A>C (p.Val34223=)
n.446+3898T>G
n.219+3898T>G
c.106689A>C (p.Val35563=)
c.80583A>C (p.Val26861=)
c.80442A>C (p.Val26814=)
c.106485A>C (p.Val35495=)
c.101883A>C (p.Val33961=)
c.101880A>C (p.Val33960=)
c.98922A>C (p.Val32974=)
c.80538A>C (p.Val26846=)
c.102033A>C (p.Val34011=)
c.102030A>C (p.Val34010=)
c.101463A>C (p.Val33821=)
c.98805A>C (p.Val32935=)
c.98724A>C (p.Val32908=)
c.80487A>C (p.Val26829=)
c.70341A>C (p.Val23447=)
2g.178527535A=CA1310508175TTN,TTN-AS1c.99887T= (p.Val33296=)
c.80972T= (p.Val26991=)
c.80771T= (p.Val26924=)
c.80396T= (p.Val26799=)
c.107591T= (p.Val35864=)
c.102668T= (p.Val34223=)
n.446+3899A=
n.219+3899A=
c.106688T= (p.Val35563=)
c.80582T= (p.Val26861=)
c.80441T= (p.Val26814=)
c.106484T= (p.Val35495=)
c.101882T= (p.Val33961=)
c.101879T= (p.Val33960=)
c.98921T= (p.Val32974=)
c.80537T= (p.Val26846=)
c.102032T= (p.Val34011=)
c.102029T= (p.Val34010=)
c.101462T= (p.Val33821=)
c.98804T= (p.Val32935=)
c.98723T= (p.Val32908=)
c.80486T= (p.Val26829=)
c.70340T= (p.Val23447=)
2g.178527535A>CCA349400022TTN,TTN-AS1c.99887T>G (p.Val33296Gly)
c.80972T>G (p.Val26991Gly)
c.80771T>G (p.Val26924Gly)
c.80396T>G (p.Val26799Gly)
c.107591T>G (p.Val35864Gly)
c.102668T>G (p.Val34223Gly)
n.446+3899A>C
n.219+3899A>C
c.106688T>G (p.Val35563Gly)
c.80582T>G (p.Val26861Gly)
c.80441T>G (p.Val26814Gly)
c.106484T>G (p.Val35495Gly)
c.101882T>G (p.Val33961Gly)
c.101879T>G (p.Val33960Gly)
c.98921T>G (p.Val32974Gly)
c.80537T>G (p.Val26846Gly)
c.102032T>G (p.Val34011Gly)
c.102029T>G (p.Val34010Gly)
c.101462T>G (p.Val33821Gly)
c.98804T>G (p.Val32935Gly)
c.98723T>G (p.Val32908Gly)
c.80486T>G (p.Val26829Gly)
c.70340T>G (p.Val23447Gly)
2g.178527535A>GCA302948TTN,TTN-AS1c.99887T>C (p.Val33296Ala)
c.80972T>C (p.Val26991Ala)
c.80771T>C (p.Val26924Ala)
c.80396T>C (p.Val26799Ala)
c.107591T>C (p.Val35864Ala)
c.102668T>C (p.Val34223Ala)
n.446+3899A>G
n.219+3899A>G
c.106688T>C (p.Val35563Ala)
c.80582T>C (p.Val26861Ala)
c.80441T>C (p.Val26814Ala)
c.106484T>C (p.Val35495Ala)
c.101882T>C (p.Val33961Ala)
c.101879T>C (p.Val33960Ala)
c.98921T>C (p.Val32974Ala)
c.80537T>C (p.Val26846Ala)
c.102032T>C (p.Val34011Ala)
c.102029T>C (p.Val34010Ala)
c.101462T>C (p.Val33821Ala)
c.98804T>C (p.Val32935Ala)
c.98723T>C (p.Val32908Ala)
c.80486T>C (p.Val26829Ala)
c.70340T>C (p.Val23447Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527535A>TCA349400023TTN,TTN-AS1c.99887T>A (p.Val33296Glu)
c.80972T>A (p.Val26991Glu)
c.80771T>A (p.Val26924Glu)
c.80396T>A (p.Val26799Glu)
c.107591T>A (p.Val35864Glu)
c.102668T>A (p.Val34223Glu)
n.446+3899A>T
n.219+3899A>T
c.106688T>A (p.Val35563Glu)
c.80582T>A (p.Val26861Glu)
c.80441T>A (p.Val26814Glu)
c.106484T>A (p.Val35495Glu)
c.101882T>A (p.Val33961Glu)
c.101879T>A (p.Val33960Glu)
c.98921T>A (p.Val32974Glu)
c.80537T>A (p.Val26846Glu)
c.102032T>A (p.Val34011Glu)
c.102029T>A (p.Val34010Glu)
c.101462T>A (p.Val33821Glu)
c.98804T>A (p.Val32935Glu)
c.98723T>A (p.Val32908Glu)
c.80486T>A (p.Val26829Glu)
c.70340T>A (p.Val23447Glu)
2g.178527536C>ACA349400024TTN,TTN-AS1c.99886G>T (p.Val33296Leu)
c.80971G>T (p.Val26991Leu)
c.80770G>T (p.Val26924Leu)
c.80395G>T (p.Val26799Leu)
c.107590G>T (p.Val35864Leu)
c.102667G>T (p.Val34223Leu)
n.446+3900C>A
n.219+3900C>A
c.106687G>T (p.Val35563Leu)
c.80581G>T (p.Val26861Leu)
c.80440G>T (p.Val26814Leu)
c.106483G>T (p.Val35495Leu)
c.101881G>T (p.Val33961Leu)
c.101878G>T (p.Val33960Leu)
c.98920G>T (p.Val32974Leu)
c.80536G>T (p.Val26846Leu)
c.102031G>T (p.Val34011Leu)
c.102028G>T (p.Val34010Leu)
c.101461G>T (p.Val33821Leu)
c.98803G>T (p.Val32935Leu)
c.98722G>T (p.Val32908Leu)
c.80485G>T (p.Val26829Leu)
c.70339G>T (p.Val23447Leu)
2g.178527536C=CA1310508184TTN,TTN-AS1c.99886G= (p.Val33296=)
c.80971G= (p.Val26991=)
c.80770G= (p.Val26924=)
c.80395G= (p.Val26799=)
c.107590G= (p.Val35864=)
c.102667G= (p.Val34223=)
n.446+3900C=
n.219+3900C=
c.106687G= (p.Val35563=)
c.80581G= (p.Val26861=)
c.80440G= (p.Val26814=)
c.106483G= (p.Val35495=)
c.101881G= (p.Val33961=)
c.101878G= (p.Val33960=)
c.98920G= (p.Val32974=)
c.80536G= (p.Val26846=)
c.102031G= (p.Val34011=)
c.102028G= (p.Val34010=)
c.101461G= (p.Val33821=)
c.98803G= (p.Val32935=)
c.98722G= (p.Val32908=)
c.80485G= (p.Val26829=)
c.70339G= (p.Val23447=)
2g.178527536C>GCA1984926TTN,TTN-AS1c.99886G>C (p.Val33296Leu)
c.80971G>C (p.Val26991Leu)
c.80770G>C (p.Val26924Leu)
c.80395G>C (p.Val26799Leu)
c.107590G>C (p.Val35864Leu)
c.102667G>C (p.Val34223Leu)
n.446+3900C>G
n.219+3900C>G
c.106687G>C (p.Val35563Leu)
c.80581G>C (p.Val26861Leu)
c.80440G>C (p.Val26814Leu)
c.106483G>C (p.Val35495Leu)
c.101881G>C (p.Val33961Leu)
c.101878G>C (p.Val33960Leu)
c.98920G>C (p.Val32974Leu)
c.80536G>C (p.Val26846Leu)
c.102031G>C (p.Val34011Leu)
c.102028G>C (p.Val34010Leu)
c.101461G>C (p.Val33821Leu)
c.98803G>C (p.Val32935Leu)
c.98722G>C (p.Val32908Leu)
c.80485G>C (p.Val26829Leu)
c.70339G>C (p.Val23447Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527536C>TCA349400025TTN,TTN-AS1c.99886G>A (p.Val33296Ile)
c.80971G>A (p.Val26991Ile)
c.80770G>A (p.Val26924Ile)
c.80395G>A (p.Val26799Ile)
c.107590G>A (p.Val35864Ile)
c.102667G>A (p.Val34223Ile)
n.446+3900C>T
n.219+3900C>T
c.106687G>A (p.Val35563Ile)
c.80581G>A (p.Val26861Ile)
c.80440G>A (p.Val26814Ile)
c.106483G>A (p.Val35495Ile)
c.101881G>A (p.Val33961Ile)
c.101878G>A (p.Val33960Ile)
c.98920G>A (p.Val32974Ile)
c.80536G>A (p.Val26846Ile)
c.102031G>A (p.Val34011Ile)
c.102028G>A (p.Val34010Ile)
c.101461G>A (p.Val33821Ile)
c.98803G>A (p.Val32935Ile)
c.98722G>A (p.Val32908Ile)
c.80485G>A (p.Val26829Ile)
c.70339G>A (p.Val23447Ile)
2g.178527537A>CCA349400026TTN,TTN-AS1c.99885T>G (p.Phe33295Leu)
c.80970T>G (p.Phe26990Leu)
c.80769T>G (p.Phe26923Leu)
c.80394T>G (p.Phe26798Leu)
c.107589T>G (p.Phe35863Leu)
c.102666T>G (p.Phe34222Leu)
n.446+3901A>C
n.219+3901A>C
c.106686T>G (p.Phe35562Leu)
c.80580T>G (p.Phe26860Leu)
c.80439T>G (p.Phe26813Leu)
c.106482T>G (p.Phe35494Leu)
c.101880T>G (p.Phe33960Leu)
c.101877T>G (p.Phe33959Leu)
c.98919T>G (p.Phe32973Leu)
c.80535T>G (p.Phe26845Leu)
c.102030T>G (p.Phe34010Leu)
c.102027T>G (p.Phe34009Leu)
c.101460T>G (p.Phe33820Leu)
c.98802T>G (p.Phe32934Leu)
c.98721T>G (p.Phe32907Leu)
c.80484T>G (p.Phe26828Leu)
c.70338T>G (p.Phe23446Leu)
2g.178527537A>GCA430234316TTN,TTN-AS1c.99885T>C (p.Phe33295=)
c.80970T>C (p.Phe26990=)
c.80769T>C (p.Phe26923=)
c.80394T>C (p.Phe26798=)
c.107589T>C (p.Phe35863=)
c.102666T>C (p.Phe34222=)
n.446+3901A>G
n.219+3901A>G
c.106686T>C (p.Phe35562=)
c.80580T>C (p.Phe26860=)
c.80439T>C (p.Phe26813=)
c.106482T>C (p.Phe35494=)
c.101880T>C (p.Phe33960=)
c.101877T>C (p.Phe33959=)
c.98919T>C (p.Phe32973=)
c.80535T>C (p.Phe26845=)
c.102030T>C (p.Phe34010=)
c.102027T>C (p.Phe34009=)
c.101460T>C (p.Phe33820=)
c.98802T>C (p.Phe32934=)
c.98721T>C (p.Phe32907=)
c.80484T>C (p.Phe26828=)
c.70338T>C (p.Phe23446=)
2g.178527537A>TCA349400027TTN,TTN-AS1c.99885T>A (p.Phe33295Leu)
c.80970T>A (p.Phe26990Leu)
c.80769T>A (p.Phe26923Leu)
c.80394T>A (p.Phe26798Leu)
c.107589T>A (p.Phe35863Leu)
c.102666T>A (p.Phe34222Leu)
n.446+3901A>T
n.219+3901A>T
c.106686T>A (p.Phe35562Leu)
c.80580T>A (p.Phe26860Leu)
c.80439T>A (p.Phe26813Leu)
c.106482T>A (p.Phe35494Leu)
c.101880T>A (p.Phe33960Leu)
c.101877T>A (p.Phe33959Leu)
c.98919T>A (p.Phe32973Leu)
c.80535T>A (p.Phe26845Leu)
c.102030T>A (p.Phe34010Leu)
c.102027T>A (p.Phe34009Leu)
c.101460T>A (p.Phe33820Leu)
c.98802T>A (p.Phe32934Leu)
c.98721T>A (p.Phe32907Leu)
c.80484T>A (p.Phe26828Leu)
c.70338T>A (p.Phe23446Leu)
2g.178527538A>CCA349400028TTN,TTN-AS1c.99884T>G (p.Phe33295Cys)
c.80969T>G (p.Phe26990Cys)
c.80768T>G (p.Phe26923Cys)
c.80393T>G (p.Phe26798Cys)
c.107588T>G (p.Phe35863Cys)
c.102665T>G (p.Phe34222Cys)
n.446+3902A>C
n.219+3902A>C
c.106685T>G (p.Phe35562Cys)
c.80579T>G (p.Phe26860Cys)
c.80438T>G (p.Phe26813Cys)
c.106481T>G (p.Phe35494Cys)
c.101879T>G (p.Phe33960Cys)
c.101876T>G (p.Phe33959Cys)
c.98918T>G (p.Phe32973Cys)
c.80534T>G (p.Phe26845Cys)
c.102029T>G (p.Phe34010Cys)
c.102026T>G (p.Phe34009Cys)
c.101459T>G (p.Phe33820Cys)
c.98801T>G (p.Phe32934Cys)
c.98720T>G (p.Phe32907Cys)
c.80483T>G (p.Phe26828Cys)
c.70337T>G (p.Phe23446Cys)
2g.178527538A>GCA349400029TTN,TTN-AS1c.99884T>C (p.Phe33295Ser)
c.80969T>C (p.Phe26990Ser)
c.80768T>C (p.Phe26923Ser)
c.80393T>C (p.Phe26798Ser)
c.107588T>C (p.Phe35863Ser)
c.102665T>C (p.Phe34222Ser)
n.446+3902A>G
n.219+3902A>G
c.106685T>C (p.Phe35562Ser)
c.80579T>C (p.Phe26860Ser)
c.80438T>C (p.Phe26813Ser)
c.106481T>C (p.Phe35494Ser)
c.101879T>C (p.Phe33960Ser)
c.101876T>C (p.Phe33959Ser)
c.98918T>C (p.Phe32973Ser)
c.80534T>C (p.Phe26845Ser)
c.102029T>C (p.Phe34010Ser)
c.102026T>C (p.Phe34009Ser)
c.101459T>C (p.Phe33820Ser)
c.98801T>C (p.Phe32934Ser)
c.98720T>C (p.Phe32907Ser)
c.80483T>C (p.Phe26828Ser)
c.70337T>C (p.Phe23446Ser)
2g.178527538A>TCA349400030TTN,TTN-AS1c.99884T>A (p.Phe33295Tyr)
c.80969T>A (p.Phe26990Tyr)
c.80768T>A (p.Phe26923Tyr)
c.80393T>A (p.Phe26798Tyr)
c.107588T>A (p.Phe35863Tyr)
c.102665T>A (p.Phe34222Tyr)
n.446+3902A>T
n.219+3902A>T
c.106685T>A (p.Phe35562Tyr)
c.80579T>A (p.Phe26860Tyr)
c.80438T>A (p.Phe26813Tyr)
c.106481T>A (p.Phe35494Tyr)
c.101879T>A (p.Phe33960Tyr)
c.101876T>A (p.Phe33959Tyr)
c.98918T>A (p.Phe32973Tyr)
c.80534T>A (p.Phe26845Tyr)
c.102029T>A (p.Phe34010Tyr)
c.102026T>A (p.Phe34009Tyr)
c.101459T>A (p.Phe33820Tyr)
c.98801T>A (p.Phe32934Tyr)
c.98720T>A (p.Phe32907Tyr)
c.80483T>A (p.Phe26828Tyr)
c.70337T>A (p.Phe23446Tyr)
2g.178527539A>CCA349400031TTN,TTN-AS1c.99883T>G (p.Phe33295Val)
c.80968T>G (p.Phe26990Val)
c.80767T>G (p.Phe26923Val)
c.80392T>G (p.Phe26798Val)
c.107587T>G (p.Phe35863Val)
c.102664T>G (p.Phe34222Val)
n.446+3903A>C
n.219+3903A>C
c.106684T>G (p.Phe35562Val)
c.80578T>G (p.Phe26860Val)
c.80437T>G (p.Phe26813Val)
c.106480T>G (p.Phe35494Val)
c.101878T>G (p.Phe33960Val)
c.101875T>G (p.Phe33959Val)
c.98917T>G (p.Phe32973Val)
c.80533T>G (p.Phe26845Val)
c.102028T>G (p.Phe34010Val)
c.102025T>G (p.Phe34009Val)
c.101458T>G (p.Phe33820Val)
c.98800T>G (p.Phe32934Val)
c.98719T>G (p.Phe32907Val)
c.80482T>G (p.Phe26828Val)
c.70336T>G (p.Phe23446Val)
2g.178527539A>GCA349400032TTN,TTN-AS1c.99883T>C (p.Phe33295Leu)
c.80968T>C (p.Phe26990Leu)
c.80767T>C (p.Phe26923Leu)
c.80392T>C (p.Phe26798Leu)
c.107587T>C (p.Phe35863Leu)
c.102664T>C (p.Phe34222Leu)
n.446+3903A>G
n.219+3903A>G
c.106684T>C (p.Phe35562Leu)
c.80578T>C (p.Phe26860Leu)
c.80437T>C (p.Phe26813Leu)
c.106480T>C (p.Phe35494Leu)
c.101878T>C (p.Phe33960Leu)
c.101875T>C (p.Phe33959Leu)
c.98917T>C (p.Phe32973Leu)
c.80533T>C (p.Phe26845Leu)
c.102028T>C (p.Phe34010Leu)
c.102025T>C (p.Phe34009Leu)
c.101458T>C (p.Phe33820Leu)
c.98800T>C (p.Phe32934Leu)
c.98719T>C (p.Phe32907Leu)
c.80482T>C (p.Phe26828Leu)
c.70336T>C (p.Phe23446Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178527539A>TCA349400033TTN,TTN-AS1c.99883T>A (p.Phe33295Ile)
c.80968T>A (p.Phe26990Ile)
c.80767T>A (p.Phe26923Ile)
c.80392T>A (p.Phe26798Ile)
c.107587T>A (p.Phe35863Ile)
c.102664T>A (p.Phe34222Ile)
n.446+3903A>T
n.219+3903A>T
c.106684T>A (p.Phe35562Ile)
c.80578T>A (p.Phe26860Ile)
c.80437T>A (p.Phe26813Ile)
c.106480T>A (p.Phe35494Ile)
c.101878T>A (p.Phe33960Ile)
c.101875T>A (p.Phe33959Ile)
c.98917T>A (p.Phe32973Ile)
c.80533T>A (p.Phe26845Ile)
c.102028T>A (p.Phe34010Ile)
c.102025T>A (p.Phe34009Ile)
c.101458T>A (p.Phe33820Ile)
c.98800T>A (p.Phe32934Ile)
c.98719T>A (p.Phe32907Ile)
c.80482T>A (p.Phe26828Ile)
c.70336T>A (p.Phe23446Ile)
2g.178527540G>ACA430234319TTN,TTN-AS1c.99882C>T (p.Ser33294=)
c.80967C>T (p.Ser26989=)
c.80766C>T (p.Ser26922=)
c.80391C>T (p.Ser26797=)
c.107586C>T (p.Ser35862=)
c.102663C>T (p.Ser34221=)
n.446+3904G>A
n.219+3904G>A
c.106683C>T (p.Ser35561=)
c.80577C>T (p.Ser26859=)
c.80436C>T (p.Ser26812=)
c.106479C>T (p.Ser35493=)
c.101877C>T (p.Ser33959=)
c.101874C>T (p.Ser33958=)
c.98916C>T (p.Ser32972=)
c.80532C>T (p.Ser26844=)
c.102027C>T (p.Ser34009=)
c.102024C>T (p.Ser34008=)
c.101457C>T (p.Ser33819=)
c.98799C>T (p.Ser32933=)
c.98718C>T (p.Ser32906=)
c.80481C>T (p.Ser26827=)
c.70335C>T (p.Ser23445=)
 gnomAD v4
2g.178527540G>CCA430234320TTN,TTN-AS1c.99882C>G (p.Ser33294=)
c.80967C>G (p.Ser26989=)
c.80766C>G (p.Ser26922=)
c.80391C>G (p.Ser26797=)
c.107586C>G (p.Ser35862=)
c.102663C>G (p.Ser34221=)
n.446+3904G>C
n.219+3904G>C
c.106683C>G (p.Ser35561=)
c.80577C>G (p.Ser26859=)
c.80436C>G (p.Ser26812=)
c.106479C>G (p.Ser35493=)
c.101877C>G (p.Ser33959=)
c.101874C>G (p.Ser33958=)
c.98916C>G (p.Ser32972=)
c.80532C>G (p.Ser26844=)
c.102027C>G (p.Ser34009=)
c.102024C>G (p.Ser34008=)
c.101457C>G (p.Ser33819=)
c.98799C>G (p.Ser32933=)
c.98718C>G (p.Ser32906=)
c.80481C>G (p.Ser26827=)
c.70335C>G (p.Ser23445=)
2g.178527540G>TCA430234322TTN,TTN-AS1c.99882C>A (p.Ser33294=)
c.80967C>A (p.Ser26989=)
c.80766C>A (p.Ser26922=)
c.80391C>A (p.Ser26797=)
c.107586C>A (p.Ser35862=)
c.102663C>A (p.Ser34221=)
n.446+3904G>T
n.219+3904G>T
c.106683C>A (p.Ser35561=)
c.80577C>A (p.Ser26859=)
c.80436C>A (p.Ser26812=)
c.106479C>A (p.Ser35493=)
c.101877C>A (p.Ser33959=)
c.101874C>A (p.Ser33958=)
c.98916C>A (p.Ser32972=)
c.80532C>A (p.Ser26844=)
c.102027C>A (p.Ser34009=)
c.102024C>A (p.Ser34008=)
c.101457C>A (p.Ser33819=)
c.98799C>A (p.Ser32933=)
c.98718C>A (p.Ser32906=)
c.80481C>A (p.Ser26827=)
c.70335C>A (p.Ser23445=)
2g.178527541G>ACA349400034TTN,TTN-AS1c.99881C>T (p.Ser33294Phe)
c.80966C>T (p.Ser26989Phe)
c.80765C>T (p.Ser26922Phe)
c.80390C>T (p.Ser26797Phe)
c.107585C>T (p.Ser35862Phe)
c.102662C>T (p.Ser34221Phe)
n.446+3905G>A
n.219+3905G>A
c.106682C>T (p.Ser35561Phe)
c.80576C>T (p.Ser26859Phe)
c.80435C>T (p.Ser26812Phe)
c.106478C>T (p.Ser35493Phe)
c.101876C>T (p.Ser33959Phe)
c.101873C>T (p.Ser33958Phe)
c.98915C>T (p.Ser32972Phe)
c.80531C>T (p.Ser26844Phe)
c.102026C>T (p.Ser34009Phe)
c.102023C>T (p.Ser34008Phe)
c.101456C>T (p.Ser33819Phe)
c.98798C>T (p.Ser32933Phe)
c.98717C>T (p.Ser32906Phe)
c.80480C>T (p.Ser26827Phe)
c.70334C>T (p.Ser23445Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.178527541G>CCA349400035TTN,TTN-AS1c.99881C>G (p.Ser33294Cys)
c.80966C>G (p.Ser26989Cys)
c.80765C>G (p.Ser26922Cys)
c.80390C>G (p.Ser26797Cys)
c.107585C>G (p.Ser35862Cys)
c.102662C>G (p.Ser34221Cys)
n.446+3905G>C
n.219+3905G>C
c.106682C>G (p.Ser35561Cys)
c.80576C>G (p.Ser26859Cys)
c.80435C>G (p.Ser26812Cys)
c.106478C>G (p.Ser35493Cys)
c.101876C>G (p.Ser33959Cys)
c.101873C>G (p.Ser33958Cys)
c.98915C>G (p.Ser32972Cys)
c.80531C>G (p.Ser26844Cys)
c.102026C>G (p.Ser34009Cys)
c.102023C>G (p.Ser34008Cys)
c.101456C>G (p.Ser33819Cys)
c.98798C>G (p.Ser32933Cys)
c.98717C>G (p.Ser32906Cys)
c.80480C>G (p.Ser26827Cys)
c.70334C>G (p.Ser23445Cys)
2g.178527541G=CA1310508189TTN,TTN-AS1c.99881C= (p.Ser33294=)
c.80966C= (p.Ser26989=)
c.80765C= (p.Ser26922=)
c.80390C= (p.Ser26797=)
c.107585C= (p.Ser35862=)
c.102662C= (p.Ser34221=)
n.446+3905G=
n.219+3905G=
c.106682C= (p.Ser35561=)
c.80576C= (p.Ser26859=)
c.80435C= (p.Ser26812=)
c.106478C= (p.Ser35493=)
c.101876C= (p.Ser33959=)
c.101873C= (p.Ser33958=)
c.98915C= (p.Ser32972=)
c.80531C= (p.Ser26844=)
c.102026C= (p.Ser34009=)
c.102023C= (p.Ser34008=)
c.101456C= (p.Ser33819=)
c.98798C= (p.Ser32933=)
c.98717C= (p.Ser32906=)
c.80480C= (p.Ser26827=)
c.70334C= (p.Ser23445=)
2g.178527541G>TCA349400036TTN,TTN-AS1c.99881C>A (p.Ser33294Tyr)
c.80966C>A (p.Ser26989Tyr)
c.80765C>A (p.Ser26922Tyr)
c.80390C>A (p.Ser26797Tyr)
c.107585C>A (p.Ser35862Tyr)
c.102662C>A (p.Ser34221Tyr)
n.446+3905G>T
n.219+3905G>T
c.106682C>A (p.Ser35561Tyr)
c.80576C>A (p.Ser26859Tyr)
c.80435C>A (p.Ser26812Tyr)
c.106478C>A (p.Ser35493Tyr)
c.101876C>A (p.Ser33959Tyr)
c.101873C>A (p.Ser33958Tyr)
c.98915C>A (p.Ser32972Tyr)
c.80531C>A (p.Ser26844Tyr)
c.102026C>A (p.Ser34009Tyr)
c.102023C>A (p.Ser34008Tyr)
c.101456C>A (p.Ser33819Tyr)
c.98798C>A (p.Ser32933Tyr)
c.98717C>A (p.Ser32906Tyr)
c.80480C>A (p.Ser26827Tyr)
c.70334C>A (p.Ser23445Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.178527542A>CCA349400037TTN,TTN-AS1c.99880T>G (p.Ser33294Ala)
c.80965T>G (p.Ser26989Ala)
c.80764T>G (p.Ser26922Ala)
c.80389T>G (p.Ser26797Ala)
c.107584T>G (p.Ser35862Ala)
c.102661T>G (p.Ser34221Ala)
n.446+3906A>C
n.219+3906A>C
c.106681T>G (p.Ser35561Ala)
c.80575T>G (p.Ser26859Ala)
c.80434T>G (p.Ser26812Ala)
c.106477T>G (p.Ser35493Ala)
c.101875T>G (p.Ser33959Ala)
c.101872T>G (p.Ser33958Ala)
c.98914T>G (p.Ser32972Ala)
c.80530T>G (p.Ser26844Ala)
c.102025T>G (p.Ser34009Ala)
c.102022T>G (p.Ser34008Ala)
c.101455T>G (p.Ser33819Ala)
c.98797T>G (p.Ser32933Ala)
c.98716T>G (p.Ser32906Ala)
c.80479T>G (p.Ser26827Ala)
c.70333T>G (p.Ser23445Ala)
2g.178527542A>GCA349400038TTN,TTN-AS1c.99880T>C (p.Ser33294Pro)
c.80965T>C (p.Ser26989Pro)
c.80764T>C (p.Ser26922Pro)
c.80389T>C (p.Ser26797Pro)
c.107584T>C (p.Ser35862Pro)
c.102661T>C (p.Ser34221Pro)
n.446+3906A>G
n.219+3906A>G
c.106681T>C (p.Ser35561Pro)
c.80575T>C (p.Ser26859Pro)
c.80434T>C (p.Ser26812Pro)
c.106477T>C (p.Ser35493Pro)
c.101875T>C (p.Ser33959Pro)
c.101872T>C (p.Ser33958Pro)
c.98914T>C (p.Ser32972Pro)
c.80530T>C (p.Ser26844Pro)
c.102025T>C (p.Ser34009Pro)
c.102022T>C (p.Ser34008Pro)
c.101455T>C (p.Ser33819Pro)
c.98797T>C (p.Ser32933Pro)
c.98716T>C (p.Ser32906Pro)
c.80479T>C (p.Ser26827Pro)
c.70333T>C (p.Ser23445Pro)
2g.178527542A>TCA349400039TTN,TTN-AS1c.99880T>A (p.Ser33294Thr)
c.80965T>A (p.Ser26989Thr)
c.80764T>A (p.Ser26922Thr)
c.80389T>A (p.Ser26797Thr)
c.107584T>A (p.Ser35862Thr)
c.102661T>A (p.Ser34221Thr)
n.446+3906A>T
n.219+3906A>T
c.106681T>A (p.Ser35561Thr)
c.80575T>A (p.Ser26859Thr)
c.80434T>A (p.Ser26812Thr)
c.106477T>A (p.Ser35493Thr)
c.101875T>A (p.Ser33959Thr)
c.101872T>A (p.Ser33958Thr)
c.98914T>A (p.Ser32972Thr)
c.80530T>A (p.Ser26844Thr)
c.102025T>A (p.Ser34009Thr)
c.102022T>A (p.Ser34008Thr)
c.101455T>A (p.Ser33819Thr)
c.98797T>A (p.Ser32933Thr)
c.98716T>A (p.Ser32906Thr)
c.80479T>A (p.Ser26827Thr)
c.70333T>A (p.Ser23445Thr)
2g.178527542_178527548delinsACTCTTGCA1310508193TTN,TTN-AS1c.99874_99880delinsCAAGAGT (p.Gln33292=)
c.80959_80965delinsCAAGAGT (p.Gln26987=)
c.80758_80764delinsCAAGAGT (p.Gln26920=)
c.80383_80389delinsCAAGAGT (p.Gln26795=)
c.107578_107584delinsCAAGAGT (p.Gln35860=)
c.102655_102661delinsCAAGAGT (p.Gln34219=)
n.446+3906_446+3912delinsACTCTTG
n.219+3906_219+3912delinsACTCTTG
c.106675_106681delinsCAAGAGT (p.Gln35559=)
c.80569_80575delinsCAAGAGT (p.Gln26857=)
c.80428_80434delinsCAAGAGT (p.Gln26810=)
c.106471_106477delinsCAAGAGT (p.Gln35491=)
c.101869_101875delinsCAAGAGT (p.Gln33957=)
c.101866_101872delinsCAAGAGT (p.Gln33956=)
c.98908_98914delinsCAAGAGT (p.Gln32970=)
c.80524_80530delinsCAAGAGT (p.Gln26842=)
c.102019_102025delinsCAAGAGT (p.Gln34007=)
c.102016_102022delinsCAAGAGT (p.Gln34006=)
c.101449_101455delinsCAAGAGT (p.Gln33817=)
c.98791_98797delinsCAAGAGT (p.Gln32931=)
c.98710_98716delinsCAAGAGT (p.Gln32904=)
c.80473_80479delinsCAAGAGT (p.Gln26825=)
c.70327_70333delinsCAAGAGT (p.Gln23443=)
2g.178527543C>ACA349400040TTN,TTN-AS1c.99879G>T (p.Glu33293Asp)
c.80964G>T (p.Glu26988Asp)
c.80763G>T (p.Glu26921Asp)
c.80388G>T (p.Glu26796Asp)
c.107583G>T (p.Glu35861Asp)
c.102660G>T (p.Glu34220Asp)
n.446+3907C>A
n.219+3907C>A
c.106680G>T (p.Glu35560Asp)
c.80574G>T (p.Glu26858Asp)
c.80433G>T (p.Glu26811Asp)
c.106476G>T (p.Glu35492Asp)
c.101874G>T (p.Glu33958Asp)
c.101871G>T (p.Glu33957Asp)
c.98913G>T (p.Glu32971Asp)
c.80529G>T (p.Glu26843Asp)
c.102024G>T (p.Glu34008Asp)
c.102021G>T (p.Glu34007Asp)
c.101454G>T (p.Glu33818Asp)
c.98796G>T (p.Glu32932Asp)
c.98715G>T (p.Glu32905Asp)
c.80478G>T (p.Glu26826Asp)
c.70332G>T (p.Glu23444Asp)
2g.178527543C=CA1310508196TTN,TTN-AS1c.99879G= (p.Glu33293=)
c.80964G= (p.Glu26988=)
c.80763G= (p.Glu26921=)
c.80388G= (p.Glu26796=)
c.107583G= (p.Glu35861=)
c.102660G= (p.Glu34220=)
n.446+3907C=
n.219+3907C=
c.106680G= (p.Glu35560=)
c.80574G= (p.Glu26858=)
c.80433G= (p.Glu26811=)
c.106476G= (p.Glu35492=)
c.101874G= (p.Glu33958=)
c.101871G= (p.Glu33957=)
c.98913G= (p.Glu32971=)
c.80529G= (p.Glu26843=)
c.102024G= (p.Glu34008=)
c.102021G= (p.Glu34007=)
c.101454G= (p.Glu33818=)
c.98796G= (p.Glu32932=)
c.98715G= (p.Glu32905=)
c.80478G= (p.Glu26826=)
c.70332G= (p.Glu23444=)
2g.178527543C>GCA349400041TTN,TTN-AS1c.99879G>C (p.Glu33293Asp)
c.80964G>C (p.Glu26988Asp)
c.80763G>C (p.Glu26921Asp)
c.80388G>C (p.Glu26796Asp)
c.107583G>C (p.Glu35861Asp)
c.102660G>C (p.Glu34220Asp)
n.446+3907C>G
n.219+3907C>G
c.106680G>C (p.Glu35560Asp)
c.80574G>C (p.Glu26858Asp)
c.80433G>C (p.Glu26811Asp)
c.106476G>C (p.Glu35492Asp)
c.101874G>C (p.Glu33958Asp)
c.101871G>C (p.Glu33957Asp)
c.98913G>C (p.Glu32971Asp)
c.80529G>C (p.Glu26843Asp)
c.102024G>C (p.Glu34008Asp)
c.102021G>C (p.Glu34007Asp)
c.101454G>C (p.Glu33818Asp)
c.98796G>C (p.Glu32932Asp)
c.98715G>C (p.Glu32905Asp)
c.80478G>C (p.Glu26826Asp)
c.70332G>C (p.Glu23444Asp)
2g.178527543C>TCA430234330TTN,TTN-AS1c.99879G>A (p.Glu33293=)
c.80964G>A (p.Glu26988=)
c.80763G>A (p.Glu26921=)
c.80388G>A (p.Glu26796=)
c.107583G>A (p.Glu35861=)
c.102660G>A (p.Glu34220=)
n.446+3907C>T
n.219+3907C>T
c.106680G>A (p.Glu35560=)
c.80574G>A (p.Glu26858=)
c.80433G>A (p.Glu26811=)
c.106476G>A (p.Glu35492=)
c.101874G>A (p.Glu33958=)
c.101871G>A (p.Glu33957=)
c.98913G>A (p.Glu32971=)
c.80529G>A (p.Glu26843=)
c.102024G>A (p.Glu34008=)
c.102021G>A (p.Glu34007=)
c.101454G>A (p.Glu33818=)
c.98796G>A (p.Glu32932=)
c.98715G>A (p.Glu32905=)
c.80478G>A (p.Glu26826=)
c.70332G>A (p.Glu23444=)
 ClinVar dbSNP gnomAD v4
2g.178527544_178527549delCA1984927TTN,TTN-AS1c.99874_99879del (p.Gln33292_Glu33293del)
c.80959_80964del (p.Gln26987_Glu26988del)
c.80758_80763del (p.Gln26920_Glu26921del)
c.80383_80388del (p.Gln26795_Glu26796del)
c.107578_107583del (p.Gln35860_Glu35861del)
c.102655_102660del (p.Gln34219_Glu34220del)
n.446+3908_446+3913del
n.219+3908_219+3913del
c.106675_106680del (p.Gln35559_Glu35560del)
c.80569_80574del (p.Gln26857_Glu26858del)
c.80428_80433del (p.Gln26810_Glu26811del)
c.106471_106476del (p.Gln35491_Glu35492del)
c.101869_101874del (p.Gln33957_Glu33958del)
c.101866_101871del (p.Gln33956_Glu33957del)
c.98908_98913del (p.Gln32970_Glu32971del)
c.80524_80529del (p.Gln26842_Glu26843del)
c.102019_102024del (p.Gln34007_Glu34008del)
c.102016_102021del (p.Gln34006_Glu34007del)
c.101449_101454del (p.Gln33817_Glu33818del)
c.98791_98796del (p.Gln32931_Glu32932del)
c.98710_98715del (p.Gln32904_Glu32905del)
c.80473_80478del (p.Gln26825_Glu26826del)
c.70327_70332del (p.Gln23443_Glu23444del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527544T>ACA349400043TTN,TTN-AS1c.99878A>T (p.Glu33293Val)
c.80963A>T (p.Glu26988Val)
c.80762A>T (p.Glu26921Val)
c.80387A>T (p.Glu26796Val)
c.107582A>T (p.Glu35861Val)
c.102659A>T (p.Glu34220Val)
n.446+3908T>A
n.219+3908T>A
c.106679A>T (p.Glu35560Val)
c.80573A>T (p.Glu26858Val)
c.80432A>T (p.Glu26811Val)
c.106475A>T (p.Glu35492Val)
c.101873A>T (p.Glu33958Val)
c.101870A>T (p.Glu33957Val)
c.98912A>T (p.Glu32971Val)
c.80528A>T (p.Glu26843Val)
c.102023A>T (p.Glu34008Val)
c.102020A>T (p.Glu34007Val)
c.101453A>T (p.Glu33818Val)
c.98795A>T (p.Glu32932Val)
c.98714A>T (p.Glu32905Val)
c.80477A>T (p.Glu26826Val)
c.70331A>T (p.Glu23444Val)
2g.178527544T>CCA349400045TTN,TTN-AS1c.99878A>G (p.Glu33293Gly)
c.80963A>G (p.Glu26988Gly)
c.80762A>G (p.Glu26921Gly)
c.80387A>G (p.Glu26796Gly)
c.107582A>G (p.Glu35861Gly)
c.102659A>G (p.Glu34220Gly)
n.446+3908T>C
n.219+3908T>C
c.106679A>G (p.Glu35560Gly)
c.80573A>G (p.Glu26858Gly)
c.80432A>G (p.Glu26811Gly)
c.106475A>G (p.Glu35492Gly)
c.101873A>G (p.Glu33958Gly)
c.101870A>G (p.Glu33957Gly)
c.98912A>G (p.Glu32971Gly)
c.80528A>G (p.Glu26843Gly)
c.102023A>G (p.Glu34008Gly)
c.102020A>G (p.Glu34007Gly)
c.101453A>G (p.Glu33818Gly)
c.98795A>G (p.Glu32932Gly)
c.98714A>G (p.Glu32905Gly)
c.80477A>G (p.Glu26826Gly)
c.70331A>G (p.Glu23444Gly)
2g.178527544T>GCA349400044TTN,TTN-AS1c.99878A>C (p.Glu33293Ala)
c.80963A>C (p.Glu26988Ala)
c.80762A>C (p.Glu26921Ala)
c.80387A>C (p.Glu26796Ala)
c.107582A>C (p.Glu35861Ala)
c.102659A>C (p.Glu34220Ala)
n.446+3908T>G
n.219+3908T>G
c.106679A>C (p.Glu35560Ala)
c.80573A>C (p.Glu26858Ala)
c.80432A>C (p.Glu26811Ala)
c.106475A>C (p.Glu35492Ala)
c.101873A>C (p.Glu33958Ala)
c.101870A>C (p.Glu33957Ala)
c.98912A>C (p.Glu32971Ala)
c.80528A>C (p.Glu26843Ala)
c.102023A>C (p.Glu34008Ala)
c.102020A>C (p.Glu34007Ala)
c.101453A>C (p.Glu33818Ala)
c.98795A>C (p.Glu32932Ala)
c.98714A>C (p.Glu32905Ala)
c.80477A>C (p.Glu26826Ala)
c.70331A>C (p.Glu23444Ala)
2g.178527545C>ACA349400046TTN,TTN-AS1c.99877G>T (p.Glu33293Ter)
c.80962G>T (p.Glu26988Ter)
c.80761G>T (p.Glu26921Ter)
c.80386G>T (p.Glu26796Ter)
c.107581G>T (p.Glu35861Ter)
c.102658G>T (p.Glu34220Ter)
n.446+3909C>A
n.219+3909C>A
c.106678G>T (p.Glu35560Ter)
c.80572G>T (p.Glu26858Ter)
c.80431G>T (p.Glu26811Ter)
c.106474G>T (p.Glu35492Ter)
c.101872G>T (p.Glu33958Ter)
c.101869G>T (p.Glu33957Ter)
c.98911G>T (p.Glu32971Ter)
c.80527G>T (p.Glu26843Ter)
c.102022G>T (p.Glu34008Ter)
c.102019G>T (p.Glu34007Ter)
c.101452G>T (p.Glu33818Ter)
c.98794G>T (p.Glu32932Ter)
c.98713G>T (p.Glu32905Ter)
c.80476G>T (p.Glu26826Ter)
c.70330G>T (p.Glu23444Ter)
2g.178527545C>GCA349400047TTN,TTN-AS1c.99877G>C (p.Glu33293Gln)
c.80962G>C (p.Glu26988Gln)
c.80761G>C (p.Glu26921Gln)
c.80386G>C (p.Glu26796Gln)
c.107581G>C (p.Glu35861Gln)
c.102658G>C (p.Glu34220Gln)
n.446+3909C>G
n.219+3909C>G
c.106678G>C (p.Glu35560Gln)
c.80572G>C (p.Glu26858Gln)
c.80431G>C (p.Glu26811Gln)
c.106474G>C (p.Glu35492Gln)
c.101872G>C (p.Glu33958Gln)
c.101869G>C (p.Glu33957Gln)
c.98911G>C (p.Glu32971Gln)
c.80527G>C (p.Glu26843Gln)
c.102022G>C (p.Glu34008Gln)
c.102019G>C (p.Glu34007Gln)
c.101452G>C (p.Glu33818Gln)
c.98794G>C (p.Glu32932Gln)
c.98713G>C (p.Glu32905Gln)
c.80476G>C (p.Glu26826Gln)
c.70330G>C (p.Glu23444Gln)
2g.178527545C>TCA349400048TTN,TTN-AS1c.99877G>A (p.Glu33293Lys)
c.80962G>A (p.Glu26988Lys)
c.80761G>A (p.Glu26921Lys)
c.80386G>A (p.Glu26796Lys)
c.107581G>A (p.Glu35861Lys)
c.102658G>A (p.Glu34220Lys)
n.446+3909C>T
n.219+3909C>T
c.106678G>A (p.Glu35560Lys)
c.80572G>A (p.Glu26858Lys)
c.80431G>A (p.Glu26811Lys)
c.106474G>A (p.Glu35492Lys)
c.101872G>A (p.Glu33958Lys)
c.101869G>A (p.Glu33957Lys)
c.98911G>A (p.Glu32971Lys)
c.80527G>A (p.Glu26843Lys)
c.102022G>A (p.Glu34008Lys)
c.102019G>A (p.Glu34007Lys)
c.101452G>A (p.Glu33818Lys)
c.98794G>A (p.Glu32932Lys)
c.98713G>A (p.Glu32905Lys)
c.80476G>A (p.Glu26826Lys)
c.70330G>A (p.Glu23444Lys)
2g.178527546T>ACA349400049TTN,TTN-AS1c.99876A>T (p.Gln33292His)
c.80961A>T (p.Gln26987His)
c.80760A>T (p.Gln26920His)
c.80385A>T (p.Gln26795His)
c.107580A>T (p.Gln35860His)
c.102657A>T (p.Gln34219His)
n.446+3910T>A
n.219+3910T>A
c.106677A>T (p.Gln35559His)
c.80571A>T (p.Gln26857His)
c.80430A>T (p.Gln26810His)
c.106473A>T (p.Gln35491His)
c.101871A>T (p.Gln33957His)
c.101868A>T (p.Gln33956His)
c.98910A>T (p.Gln32970His)
c.80526A>T (p.Gln26842His)
c.102021A>T (p.Gln34007His)
c.102018A>T (p.Gln34006His)
c.101451A>T (p.Gln33817His)
c.98793A>T (p.Gln32931His)
c.98712A>T (p.Gln32904His)
c.80475A>T (p.Gln26825His)
c.70329A>T (p.Gln23443His)
 dbSNP
2g.178527546T>CCA430234338TTN,TTN-AS1c.99876A>G (p.Gln33292=)
c.80961A>G (p.Gln26987=)
c.80760A>G (p.Gln26920=)
c.80385A>G (p.Gln26795=)
c.107580A>G (p.Gln35860=)
c.102657A>G (p.Gln34219=)
n.446+3910T>C
n.219+3910T>C
c.106677A>G (p.Gln35559=)
c.80571A>G (p.Gln26857=)
c.80430A>G (p.Gln26810=)
c.106473A>G (p.Gln35491=)
c.101871A>G (p.Gln33957=)
c.101868A>G (p.Gln33956=)
c.98910A>G (p.Gln32970=)
c.80526A>G (p.Gln26842=)
c.102021A>G (p.Gln34007=)
c.102018A>G (p.Gln34006=)
c.101451A>G (p.Gln33817=)
c.98793A>G (p.Gln32931=)
c.98712A>G (p.Gln32904=)
c.80475A>G (p.Gln26825=)
c.70329A>G (p.Gln23443=)
2g.178527546T>GCA349400050TTN,TTN-AS1c.99876A>C (p.Gln33292His)
c.80961A>C (p.Gln26987His)
c.80760A>C (p.Gln26920His)
c.80385A>C (p.Gln26795His)
c.107580A>C (p.Gln35860His)
c.102657A>C (p.Gln34219His)
n.446+3910T>G
n.219+3910T>G
c.106677A>C (p.Gln35559His)
c.80571A>C (p.Gln26857His)
c.80430A>C (p.Gln26810His)
c.106473A>C (p.Gln35491His)
c.101871A>C (p.Gln33957His)
c.101868A>C (p.Gln33956His)
c.98910A>C (p.Gln32970His)
c.80526A>C (p.Gln26842His)
c.102021A>C (p.Gln34007His)
c.102018A>C (p.Gln34006His)
c.101451A>C (p.Gln33817His)
c.98793A>C (p.Gln32931His)
c.98712A>C (p.Gln32904His)
c.80475A>C (p.Gln26825His)
c.70329A>C (p.Gln23443His)
2g.178527546T=CA1310508203TTN,TTN-AS1c.99876A= (p.Gln33292=)
c.80961A= (p.Gln26987=)
c.80760A= (p.Gln26920=)
c.80385A= (p.Gln26795=)
c.107580A= (p.Gln35860=)
c.102657A= (p.Gln34219=)
n.446+3910T=
n.219+3910T=
c.106677A= (p.Gln35559=)
c.80571A= (p.Gln26857=)
c.80430A= (p.Gln26810=)
c.106473A= (p.Gln35491=)
c.101871A= (p.Gln33957=)
c.101868A= (p.Gln33956=)
c.98910A= (p.Gln32970=)
c.80526A= (p.Gln26842=)
c.102021A= (p.Gln34007=)
c.102018A= (p.Gln34006=)
c.101451A= (p.Gln33817=)
c.98793A= (p.Gln32931=)
c.98712A= (p.Gln32904=)
c.80475A= (p.Gln26825=)
c.70329A= (p.Gln23443=)
2g.178527547T>ACA349400051TTN,TTN-AS1c.99875A>T (p.Gln33292Leu)
c.80960A>T (p.Gln26987Leu)
c.80759A>T (p.Gln26920Leu)
c.80384A>T (p.Gln26795Leu)
c.107579A>T (p.Gln35860Leu)
c.102656A>T (p.Gln34219Leu)
n.446+3911T>A
n.219+3911T>A
c.106676A>T (p.Gln35559Leu)
c.80570A>T (p.Gln26857Leu)
c.80429A>T (p.Gln26810Leu)
c.106472A>T (p.Gln35491Leu)
c.101870A>T (p.Gln33957Leu)
c.101867A>T (p.Gln33956Leu)
c.98909A>T (p.Gln32970Leu)
c.80525A>T (p.Gln26842Leu)
c.102020A>T (p.Gln34007Leu)
c.102017A>T (p.Gln34006Leu)
c.101450A>T (p.Gln33817Leu)
c.98792A>T (p.Gln32931Leu)
c.98711A>T (p.Gln32904Leu)
c.80474A>T (p.Gln26825Leu)
c.70328A>T (p.Gln23443Leu)
2g.178527547T>CCA349400052TTN,TTN-AS1c.99875A>G (p.Gln33292Arg)
c.80960A>G (p.Gln26987Arg)
c.80759A>G (p.Gln26920Arg)
c.80384A>G (p.Gln26795Arg)
c.107579A>G (p.Gln35860Arg)
c.102656A>G (p.Gln34219Arg)
n.446+3911T>C
n.219+3911T>C
c.106676A>G (p.Gln35559Arg)
c.80570A>G (p.Gln26857Arg)
c.80429A>G (p.Gln26810Arg)
c.106472A>G (p.Gln35491Arg)
c.101870A>G (p.Gln33957Arg)
c.101867A>G (p.Gln33956Arg)
c.98909A>G (p.Gln32970Arg)
c.80525A>G (p.Gln26842Arg)
c.102020A>G (p.Gln34007Arg)
c.102017A>G (p.Gln34006Arg)
c.101450A>G (p.Gln33817Arg)
c.98792A>G (p.Gln32931Arg)
c.98711A>G (p.Gln32904Arg)
c.80474A>G (p.Gln26825Arg)
c.70328A>G (p.Gln23443Arg)
2g.178527547T>GCA349400053TTN,TTN-AS1c.99875A>C (p.Gln33292Pro)
c.80960A>C (p.Gln26987Pro)
c.80759A>C (p.Gln26920Pro)
c.80384A>C (p.Gln26795Pro)
c.107579A>C (p.Gln35860Pro)
c.102656A>C (p.Gln34219Pro)
n.446+3911T>G
n.219+3911T>G
c.106676A>C (p.Gln35559Pro)
c.80570A>C (p.Gln26857Pro)
c.80429A>C (p.Gln26810Pro)
c.106472A>C (p.Gln35491Pro)
c.101870A>C (p.Gln33957Pro)
c.101867A>C (p.Gln33956Pro)
c.98909A>C (p.Gln32970Pro)
c.80525A>C (p.Gln26842Pro)
c.102020A>C (p.Gln34007Pro)
c.102017A>C (p.Gln34006Pro)
c.101450A>C (p.Gln33817Pro)
c.98792A>C (p.Gln32931Pro)
c.98711A>C (p.Gln32904Pro)
c.80474A>C (p.Gln26825Pro)
c.70328A>C (p.Gln23443Pro)
2g.178527548G>ACA60949220TTN,TTN-AS1c.99874C>T (p.Gln33292Ter)
c.80959C>T (p.Gln26987Ter)
c.80758C>T (p.Gln26920Ter)
c.80383C>T (p.Gln26795Ter)
c.107578C>T (p.Gln35860Ter)
c.102655C>T (p.Gln34219Ter)
n.446+3912G>A
n.219+3912G>A
c.106675C>T (p.Gln35559Ter)
c.80569C>T (p.Gln26857Ter)
c.80428C>T (p.Gln26810Ter)
c.106471C>T (p.Gln35491Ter)
c.101869C>T (p.Gln33957Ter)
c.101866C>T (p.Gln33956Ter)
c.98908C>T (p.Gln32970Ter)
c.80524C>T (p.Gln26842Ter)
c.102019C>T (p.Gln34007Ter)
c.102016C>T (p.Gln34006Ter)
c.101449C>T (p.Gln33817Ter)
c.98791C>T (p.Gln32931Ter)
c.98710C>T (p.Gln32904Ter)
c.80473C>T (p.Gln26825Ter)
c.70327C>T (p.Gln23443Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527548G>CCA349400054TTN,TTN-AS1c.99874C>G (p.Gln33292Glu)
c.80959C>G (p.Gln26987Glu)
c.80758C>G (p.Gln26920Glu)
c.80383C>G (p.Gln26795Glu)
c.107578C>G (p.Gln35860Glu)
c.102655C>G (p.Gln34219Glu)
n.446+3912G>C
n.219+3912G>C
c.106675C>G (p.Gln35559Glu)
c.80569C>G (p.Gln26857Glu)
c.80428C>G (p.Gln26810Glu)
c.106471C>G (p.Gln35491Glu)
c.101869C>G (p.Gln33957Glu)
c.101866C>G (p.Gln33956Glu)
c.98908C>G (p.Gln32970Glu)
c.80524C>G (p.Gln26842Glu)
c.102019C>G (p.Gln34007Glu)
c.102016C>G (p.Gln34006Glu)
c.101449C>G (p.Gln33817Glu)
c.98791C>G (p.Gln32931Glu)
c.98710C>G (p.Gln32904Glu)
c.80473C>G (p.Gln26825Glu)
c.70327C>G (p.Gln23443Glu)
2g.178527548G=CA1310508207TTN,TTN-AS1c.99874C= (p.Gln33292=)
c.80959C= (p.Gln26987=)
c.80758C= (p.Gln26920=)
c.80383C= (p.Gln26795=)
c.107578C= (p.Gln35860=)
c.102655C= (p.Gln34219=)
n.446+3912G=
n.219+3912G=
c.106675C= (p.Gln35559=)
c.80569C= (p.Gln26857=)
c.80428C= (p.Gln26810=)
c.106471C= (p.Gln35491=)
c.101869C= (p.Gln33957=)
c.101866C= (p.Gln33956=)
c.98908C= (p.Gln32970=)
c.80524C= (p.Gln26842=)
c.102019C= (p.Gln34007=)
c.102016C= (p.Gln34006=)
c.101449C= (p.Gln33817=)
c.98791C= (p.Gln32931=)
c.98710C= (p.Gln32904=)
c.80473C= (p.Gln26825=)
c.70327C= (p.Gln23443=)
2g.178527548G>TCA349400055TTN,TTN-AS1c.99874C>A (p.Gln33292Lys)
c.80959C>A (p.Gln26987Lys)
c.80758C>A (p.Gln26920Lys)
c.80383C>A (p.Gln26795Lys)
c.107578C>A (p.Gln35860Lys)
c.102655C>A (p.Gln34219Lys)
n.446+3912G>T
n.219+3912G>T
c.106675C>A (p.Gln35559Lys)
c.80569C>A (p.Gln26857Lys)
c.80428C>A (p.Gln26810Lys)
c.106471C>A (p.Gln35491Lys)
c.101869C>A (p.Gln33957Lys)
c.101866C>A (p.Gln33956Lys)
c.98908C>A (p.Gln32970Lys)
c.80524C>A (p.Gln26842Lys)
c.102019C>A (p.Gln34007Lys)
c.102016C>A (p.Gln34006Lys)
c.101449C>A (p.Gln33817Lys)
c.98791C>A (p.Gln32931Lys)
c.98710C>A (p.Gln32904Lys)
c.80473C>A (p.Gln26825Lys)
c.70327C>A (p.Gln23443Lys)
2g.178527549C>ACA349400057TTN,TTN-AS1c.99873G>T (p.Met33291Ile)
c.80958G>T (p.Met26986Ile)
c.80757G>T (p.Met26919Ile)
c.80382G>T (p.Met26794Ile)
c.107577G>T (p.Met35859Ile)
c.102654G>T (p.Met34218Ile)
n.446+3913C>A
n.219+3913C>A
c.106674G>T (p.Met35558Ile)
c.80568G>T (p.Met26856Ile)
c.80427G>T (p.Met26809Ile)
c.106470G>T (p.Met35490Ile)
c.101868G>T (p.Met33956Ile)
c.101865G>T (p.Met33955Ile)
c.98907G>T (p.Met32969Ile)
c.80523G>T (p.Met26841Ile)
c.102018G>T (p.Met34006Ile)
c.102015G>T (p.Met34005Ile)
c.101448G>T (p.Met33816Ile)
c.98790G>T (p.Met32930Ile)
c.98709G>T (p.Met32903Ile)
c.80472G>T (p.Met26824Ile)
c.70326G>T (p.Met23442Ile)
2g.178527549C=CA1310508209TTN,TTN-AS1c.99873G= (p.Met33291=)
c.80958G= (p.Met26986=)
c.80757G= (p.Met26919=)
c.80382G= (p.Met26794=)
c.107577G= (p.Met35859=)
c.102654G= (p.Met34218=)
n.446+3913C=
n.219+3913C=
c.106674G= (p.Met35558=)
c.80568G= (p.Met26856=)
c.80427G= (p.Met26809=)
c.106470G= (p.Met35490=)
c.101868G= (p.Met33956=)
c.101865G= (p.Met33955=)
c.98907G= (p.Met32969=)
c.80523G= (p.Met26841=)
c.102018G= (p.Met34006=)
c.102015G= (p.Met34005=)
c.101448G= (p.Met33816=)
c.98790G= (p.Met32930=)
c.98709G= (p.Met32903=)
c.80472G= (p.Met26824=)
c.70326G= (p.Met23442=)
2g.178527549C>GCA1984928TTN,TTN-AS1c.99873G>C (p.Met33291Ile)
c.80958G>C (p.Met26986Ile)
c.80757G>C (p.Met26919Ile)
c.80382G>C (p.Met26794Ile)
c.107577G>C (p.Met35859Ile)
c.102654G>C (p.Met34218Ile)
n.446+3913C>G
n.219+3913C>G
c.106674G>C (p.Met35558Ile)
c.80568G>C (p.Met26856Ile)
c.80427G>C (p.Met26809Ile)
c.106470G>C (p.Met35490Ile)
c.101868G>C (p.Met33956Ile)
c.101865G>C (p.Met33955Ile)
c.98907G>C (p.Met32969Ile)
c.80523G>C (p.Met26841Ile)
c.102018G>C (p.Met34006Ile)
c.102015G>C (p.Met34005Ile)
c.101448G>C (p.Met33816Ile)
c.98790G>C (p.Met32930Ile)
c.98709G>C (p.Met32903Ile)
c.80472G>C (p.Met26824Ile)
c.70326G>C (p.Met23442Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527549C>TCA349400056TTN,TTN-AS1c.99873G>A (p.Met33291Ile)
c.80958G>A (p.Met26986Ile)
c.80757G>A (p.Met26919Ile)
c.80382G>A (p.Met26794Ile)
c.107577G>A (p.Met35859Ile)
c.102654G>A (p.Met34218Ile)
n.446+3913C>T
n.219+3913C>T
c.106674G>A (p.Met35558Ile)
c.80568G>A (p.Met26856Ile)
c.80427G>A (p.Met26809Ile)
c.106470G>A (p.Met35490Ile)
c.101868G>A (p.Met33956Ile)
c.101865G>A (p.Met33955Ile)
c.98907G>A (p.Met32969Ile)
c.80523G>A (p.Met26841Ile)
c.102018G>A (p.Met34006Ile)
c.102015G>A (p.Met34005Ile)
c.101448G>A (p.Met33816Ile)
c.98790G>A (p.Met32930Ile)
c.98709G>A (p.Met32903Ile)
c.80472G>A (p.Met26824Ile)
c.70326G>A (p.Met23442Ile)
 ClinVar dbSNP gnomAD v4
2g.178527550A=CA1310508210TTN,TTN-AS1c.99872T= (p.Met33291=)
c.80957T= (p.Met26986=)
c.80756T= (p.Met26919=)
c.80381T= (p.Met26794=)
c.107576T= (p.Met35859=)
c.102653T= (p.Met34218=)
n.446+3914A=
n.219+3914A=
c.106673T= (p.Met35558=)
c.80567T= (p.Met26856=)
c.80426T= (p.Met26809=)
c.106469T= (p.Met35490=)
c.101867T= (p.Met33956=)
c.101864T= (p.Met33955=)
c.98906T= (p.Met32969=)
c.80522T= (p.Met26841=)
c.102017T= (p.Met34006=)
c.102014T= (p.Met34005=)
c.101447T= (p.Met33816=)
c.98789T= (p.Met32930=)
c.98708T= (p.Met32903=)
c.80471T= (p.Met26824=)
c.70325T= (p.Met23442=)
2g.178527550A>CCA349400058TTN,TTN-AS1c.99872T>G (p.Met33291Arg)
c.80957T>G (p.Met26986Arg)
c.80756T>G (p.Met26919Arg)
c.80381T>G (p.Met26794Arg)
c.107576T>G (p.Met35859Arg)
c.102653T>G (p.Met34218Arg)
n.446+3914A>C
n.219+3914A>C
c.106673T>G (p.Met35558Arg)
c.80567T>G (p.Met26856Arg)
c.80426T>G (p.Met26809Arg)
c.106469T>G (p.Met35490Arg)
c.101867T>G (p.Met33956Arg)
c.101864T>G (p.Met33955Arg)
c.98906T>G (p.Met32969Arg)
c.80522T>G (p.Met26841Arg)
c.102017T>G (p.Met34006Arg)
c.102014T>G (p.Met34005Arg)
c.101447T>G (p.Met33816Arg)
c.98789T>G (p.Met32930Arg)
c.98708T>G (p.Met32903Arg)
c.80471T>G (p.Met26824Arg)
c.70325T>G (p.Met23442Arg)
2g.178527550A>GCA141774TTN,TTN-AS1c.99872T>C (p.Met33291Thr)
c.80957T>C (p.Met26986Thr)
c.80756T>C (p.Met26919Thr)
c.80381T>C (p.Met26794Thr)
c.107576T>C (p.Met35859Thr)
c.102653T>C (p.Met34218Thr)
n.446+3914A>G
n.219+3914A>G
c.106673T>C (p.Met35558Thr)
c.80567T>C (p.Met26856Thr)
c.80426T>C (p.Met26809Thr)
c.106469T>C (p.Met35490Thr)
c.101867T>C (p.Met33956Thr)
c.101864T>C (p.Met33955Thr)
c.98906T>C (p.Met32969Thr)
c.80522T>C (p.Met26841Thr)
c.102017T>C (p.Met34006Thr)
c.102014T>C (p.Met34005Thr)
c.101447T>C (p.Met33816Thr)
c.98789T>C (p.Met32930Thr)
c.98708T>C (p.Met32903Thr)
c.80471T>C (p.Met26824Thr)
c.70325T>C (p.Met23442Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527550A>TCA349400059TTN,TTN-AS1c.99872T>A (p.Met33291Lys)
c.80957T>A (p.Met26986Lys)
c.80756T>A (p.Met26919Lys)
c.80381T>A (p.Met26794Lys)
c.107576T>A (p.Met35859Lys)
c.102653T>A (p.Met34218Lys)
n.446+3914A>T
n.219+3914A>T
c.106673T>A (p.Met35558Lys)
c.80567T>A (p.Met26856Lys)
c.80426T>A (p.Met26809Lys)
c.106469T>A (p.Met35490Lys)
c.101867T>A (p.Met33956Lys)
c.101864T>A (p.Met33955Lys)
c.98906T>A (p.Met32969Lys)
c.80522T>A (p.Met26841Lys)
c.102017T>A (p.Met34006Lys)
c.102014T>A (p.Met34005Lys)
c.101447T>A (p.Met33816Lys)
c.98789T>A (p.Met32930Lys)
c.98708T>A (p.Met32903Lys)
c.80471T>A (p.Met26824Lys)
c.70325T>A (p.Met23442Lys)
2g.178527551T>ACA349400060TTN,TTN-AS1c.99871A>T (p.Met33291Leu)
c.80956A>T (p.Met26986Leu)
c.80755A>T (p.Met26919Leu)
c.80380A>T (p.Met26794Leu)
c.107575A>T (p.Met35859Leu)
c.102652A>T (p.Met34218Leu)
n.446+3915T>A
n.219+3915T>A
c.106672A>T (p.Met35558Leu)
c.80566A>T (p.Met26856Leu)
c.80425A>T (p.Met26809Leu)
c.106468A>T (p.Met35490Leu)
c.101866A>T (p.Met33956Leu)
c.101863A>T (p.Met33955Leu)
c.98905A>T (p.Met32969Leu)
c.80521A>T (p.Met26841Leu)
c.102016A>T (p.Met34006Leu)
c.102013A>T (p.Met34005Leu)
c.101446A>T (p.Met33816Leu)
c.98788A>T (p.Met32930Leu)
c.98707A>T (p.Met32903Leu)
c.80470A>T (p.Met26824Leu)
c.70324A>T (p.Met23442Leu)
2g.178527551T>CCA349400061TTN,TTN-AS1c.99871A>G (p.Met33291Val)
c.80956A>G (p.Met26986Val)
c.80755A>G (p.Met26919Val)
c.80380A>G (p.Met26794Val)
c.107575A>G (p.Met35859Val)
c.102652A>G (p.Met34218Val)
n.446+3915T>C
n.219+3915T>C
c.106672A>G (p.Met35558Val)
c.80566A>G (p.Met26856Val)
c.80425A>G (p.Met26809Val)
c.106468A>G (p.Met35490Val)
c.101866A>G (p.Met33956Val)
c.101863A>G (p.Met33955Val)
c.98905A>G (p.Met32969Val)
c.80521A>G (p.Met26841Val)
c.102016A>G (p.Met34006Val)
c.102013A>G (p.Met34005Val)
c.101446A>G (p.Met33816Val)
c.98788A>G (p.Met32930Val)
c.98707A>G (p.Met32903Val)
c.80470A>G (p.Met26824Val)
c.70324A>G (p.Met23442Val)
 dbSNP
2g.178527551T>GCA349400062TTN,TTN-AS1c.99871A>C (p.Met33291Leu)
c.80956A>C (p.Met26986Leu)
c.80755A>C (p.Met26919Leu)
c.80380A>C (p.Met26794Leu)
c.107575A>C (p.Met35859Leu)
c.102652A>C (p.Met34218Leu)
n.446+3915T>G
n.219+3915T>G
c.106672A>C (p.Met35558Leu)
c.80566A>C (p.Met26856Leu)
c.80425A>C (p.Met26809Leu)
c.106468A>C (p.Met35490Leu)
c.101866A>C (p.Met33956Leu)
c.101863A>C (p.Met33955Leu)
c.98905A>C (p.Met32969Leu)
c.80521A>C (p.Met26841Leu)
c.102016A>C (p.Met34006Leu)
c.102013A>C (p.Met34005Leu)
c.101446A>C (p.Met33816Leu)
c.98788A>C (p.Met32930Leu)
c.98707A>C (p.Met32903Leu)
c.80470A>C (p.Met26824Leu)
c.70324A>C (p.Met23442Leu)
2g.178527551T=CA1310508212TTN,TTN-AS1c.99871A= (p.Met33291=)
c.80956A= (p.Met26986=)
c.80755A= (p.Met26919=)
c.80380A= (p.Met26794=)
c.107575A= (p.Met35859=)
c.102652A= (p.Met34218=)
n.446+3915T=
n.219+3915T=
c.106672A= (p.Met35558=)
c.80566A= (p.Met26856=)
c.80425A= (p.Met26809=)
c.106468A= (p.Met35490=)
c.101866A= (p.Met33956=)
c.101863A= (p.Met33955=)
c.98905A= (p.Met32969=)
c.80521A= (p.Met26841=)
c.102016A= (p.Met34006=)
c.102013A= (p.Met34005=)
c.101446A= (p.Met33816=)
c.98788A= (p.Met32930=)
c.98707A= (p.Met32903=)
c.80470A= (p.Met26824=)
c.70324A= (p.Met23442=)
2g.178527552G>ACA430234352TTN,TTN-AS1c.99870C>T (p.Ser33290=)
c.80955C>T (p.Ser26985=)
c.80754C>T (p.Ser26918=)
c.80379C>T (p.Ser26793=)
c.107574C>T (p.Ser35858=)
c.102651C>T (p.Ser34217=)
n.446+3916G>A
n.219+3916G>A
c.106671C>T (p.Ser35557=)
c.80565C>T (p.Ser26855=)
c.80424C>T (p.Ser26808=)
c.106467C>T (p.Ser35489=)
c.101865C>T (p.Ser33955=)
c.101862C>T (p.Ser33954=)
c.98904C>T (p.Ser32968=)
c.80520C>T (p.Ser26840=)
c.102015C>T (p.Ser34005=)
c.102012C>T (p.Ser34004=)
c.101445C>T (p.Ser33815=)
c.98787C>T (p.Ser32929=)
c.98706C>T (p.Ser32902=)
c.80469C>T (p.Ser26823=)
c.70323C>T (p.Ser23441=)
2g.178527552G>CCA430234349TTN,TTN-AS1c.99870C>G (p.Ser33290=)
c.80955C>G (p.Ser26985=)
c.80754C>G (p.Ser26918=)
c.80379C>G (p.Ser26793=)
c.107574C>G (p.Ser35858=)
c.102651C>G (p.Ser34217=)
n.446+3916G>C
n.219+3916G>C
c.106671C>G (p.Ser35557=)
c.80565C>G (p.Ser26855=)
c.80424C>G (p.Ser26808=)
c.106467C>G (p.Ser35489=)
c.101865C>G (p.Ser33955=)
c.101862C>G (p.Ser33954=)
c.98904C>G (p.Ser32968=)
c.80520C>G (p.Ser26840=)
c.102015C>G (p.Ser34005=)
c.102012C>G (p.Ser34004=)
c.101445C>G (p.Ser33815=)
c.98787C>G (p.Ser32929=)
c.98706C>G (p.Ser32902=)
c.80469C>G (p.Ser26823=)
c.70323C>G (p.Ser23441=)
2g.178527552G>TCA430234350TTN,TTN-AS1c.99870C>A (p.Ser33290=)
c.80955C>A (p.Ser26985=)
c.80754C>A (p.Ser26918=)
c.80379C>A (p.Ser26793=)
c.107574C>A (p.Ser35858=)
c.102651C>A (p.Ser34217=)
n.446+3916G>T
n.219+3916G>T
c.106671C>A (p.Ser35557=)
c.80565C>A (p.Ser26855=)
c.80424C>A (p.Ser26808=)
c.106467C>A (p.Ser35489=)
c.101865C>A (p.Ser33955=)
c.101862C>A (p.Ser33954=)
c.98904C>A (p.Ser32968=)
c.80520C>A (p.Ser26840=)
c.102015C>A (p.Ser34005=)
c.102012C>A (p.Ser34004=)
c.101445C>A (p.Ser33815=)
c.98787C>A (p.Ser32929=)
c.98706C>A (p.Ser32902=)
c.80469C>A (p.Ser26823=)
c.70323C>A (p.Ser23441=)
2g.178527553G>ACA349400063TTN,TTN-AS1c.99869C>T (p.Ser33290Phe)
c.80954C>T (p.Ser26985Phe)
c.80753C>T (p.Ser26918Phe)
c.80378C>T (p.Ser26793Phe)
c.107573C>T (p.Ser35858Phe)
c.102650C>T (p.Ser34217Phe)
n.446+3917G>A
n.219+3917G>A
c.106670C>T (p.Ser35557Phe)
c.80564C>T (p.Ser26855Phe)
c.80423C>T (p.Ser26808Phe)
c.106466C>T (p.Ser35489Phe)
c.101864C>T (p.Ser33955Phe)
c.101861C>T (p.Ser33954Phe)
c.98903C>T (p.Ser32968Phe)
c.80519C>T (p.Ser26840Phe)
c.102014C>T (p.Ser34005Phe)
c.102011C>T (p.Ser34004Phe)
c.101444C>T (p.Ser33815Phe)
c.98786C>T (p.Ser32929Phe)
c.98705C>T (p.Ser32902Phe)
c.80468C>T (p.Ser26823Phe)
c.70322C>T (p.Ser23441Phe)
2g.178527553G>CCA349400064TTN,TTN-AS1c.99869C>G (p.Ser33290Cys)
c.80954C>G (p.Ser26985Cys)
c.80753C>G (p.Ser26918Cys)
c.80378C>G (p.Ser26793Cys)
c.107573C>G (p.Ser35858Cys)
c.102650C>G (p.Ser34217Cys)
n.446+3917G>C
n.219+3917G>C
c.106670C>G (p.Ser35557Cys)
c.80564C>G (p.Ser26855Cys)
c.80423C>G (p.Ser26808Cys)
c.106466C>G (p.Ser35489Cys)
c.101864C>G (p.Ser33955Cys)
c.101861C>G (p.Ser33954Cys)
c.98903C>G (p.Ser32968Cys)
c.80519C>G (p.Ser26840Cys)
c.102014C>G (p.Ser34005Cys)
c.102011C>G (p.Ser34004Cys)
c.101444C>G (p.Ser33815Cys)
c.98786C>G (p.Ser32929Cys)
c.98705C>G (p.Ser32902Cys)
c.80468C>G (p.Ser26823Cys)
c.70322C>G (p.Ser23441Cys)
2g.178527553G>TCA349400065TTN,TTN-AS1c.99869C>A (p.Ser33290Tyr)
c.80954C>A (p.Ser26985Tyr)
c.80753C>A (p.Ser26918Tyr)
c.80378C>A (p.Ser26793Tyr)
c.107573C>A (p.Ser35858Tyr)
c.102650C>A (p.Ser34217Tyr)
n.446+3917G>T
n.219+3917G>T
c.106670C>A (p.Ser35557Tyr)
c.80564C>A (p.Ser26855Tyr)
c.80423C>A (p.Ser26808Tyr)
c.106466C>A (p.Ser35489Tyr)
c.101864C>A (p.Ser33955Tyr)
c.101861C>A (p.Ser33954Tyr)
c.98903C>A (p.Ser32968Tyr)
c.80519C>A (p.Ser26840Tyr)
c.102014C>A (p.Ser34005Tyr)
c.102011C>A (p.Ser34004Tyr)
c.101444C>A (p.Ser33815Tyr)
c.98786C>A (p.Ser32929Tyr)
c.98705C>A (p.Ser32902Tyr)
c.80468C>A (p.Ser26823Tyr)
c.70322C>A (p.Ser23441Tyr)
2g.178527554A>CCA349400066TTN,TTN-AS1c.99868T>G (p.Ser33290Ala)
c.80953T>G (p.Ser26985Ala)
c.80752T>G (p.Ser26918Ala)
c.80377T>G (p.Ser26793Ala)
c.107572T>G (p.Ser35858Ala)
c.102649T>G (p.Ser34217Ala)
n.446+3918A>C
n.219+3918A>C
c.106669T>G (p.Ser35557Ala)
c.80563T>G (p.Ser26855Ala)
c.80422T>G (p.Ser26808Ala)
c.106465T>G (p.Ser35489Ala)
c.101863T>G (p.Ser33955Ala)
c.101860T>G (p.Ser33954Ala)
c.98902T>G (p.Ser32968Ala)
c.80518T>G (p.Ser26840Ala)
c.102013T>G (p.Ser34005Ala)
c.102010T>G (p.Ser34004Ala)
c.101443T>G (p.Ser33815Ala)
c.98785T>G (p.Ser32929Ala)
c.98704T>G (p.Ser32902Ala)
c.80467T>G (p.Ser26823Ala)
c.70321T>G (p.Ser23441Ala)
2g.178527554A>GCA349400067TTN,TTN-AS1c.99868T>C (p.Ser33290Pro)
c.80953T>C (p.Ser26985Pro)
c.80752T>C (p.Ser26918Pro)
c.80377T>C (p.Ser26793Pro)
c.107572T>C (p.Ser35858Pro)
c.102649T>C (p.Ser34217Pro)
n.446+3918A>G
n.219+3918A>G
c.106669T>C (p.Ser35557Pro)
c.80563T>C (p.Ser26855Pro)
c.80422T>C (p.Ser26808Pro)
c.106465T>C (p.Ser35489Pro)
c.101863T>C (p.Ser33955Pro)
c.101860T>C (p.Ser33954Pro)
c.98902T>C (p.Ser32968Pro)
c.80518T>C (p.Ser26840Pro)
c.102013T>C (p.Ser34005Pro)
c.102010T>C (p.Ser34004Pro)
c.101443T>C (p.Ser33815Pro)
c.98785T>C (p.Ser32929Pro)
c.98704T>C (p.Ser32902Pro)
c.80467T>C (p.Ser26823Pro)
c.70321T>C (p.Ser23441Pro)
2g.178527554A>TCA349400068TTN,TTN-AS1c.99868T>A (p.Ser33290Thr)
c.80953T>A (p.Ser26985Thr)
c.80752T>A (p.Ser26918Thr)
c.80377T>A (p.Ser26793Thr)
c.107572T>A (p.Ser35858Thr)
c.102649T>A (p.Ser34217Thr)
n.446+3918A>T
n.219+3918A>T
c.106669T>A (p.Ser35557Thr)
c.80563T>A (p.Ser26855Thr)
c.80422T>A (p.Ser26808Thr)
c.106465T>A (p.Ser35489Thr)
c.101863T>A (p.Ser33955Thr)
c.101860T>A (p.Ser33954Thr)
c.98902T>A (p.Ser32968Thr)
c.80518T>A (p.Ser26840Thr)
c.102013T>A (p.Ser34005Thr)
c.102010T>A (p.Ser34004Thr)
c.101443T>A (p.Ser33815Thr)
c.98785T>A (p.Ser32929Thr)
c.98704T>A (p.Ser32902Thr)
c.80467T>A (p.Ser26823Thr)
c.70321T>A (p.Ser23441Thr)
 gnomAD v4
2g.178527555G>ACA430234356TTN,TTN-AS1c.99867C>T (p.Ser33289=)
c.80952C>T (p.Ser26984=)
c.80751C>T (p.Ser26917=)
c.80376C>T (p.Ser26792=)
c.107571C>T (p.Ser35857=)
c.102648C>T (p.Ser34216=)
n.446+3919G>A
n.219+3919G>A
c.106668C>T (p.Ser35556=)
c.80562C>T (p.Ser26854=)
c.80421C>T (p.Ser26807=)
c.106464C>T (p.Ser35488=)
c.101862C>T (p.Ser33954=)
c.101859C>T (p.Ser33953=)
c.98901C>T (p.Ser32967=)
c.80517C>T (p.Ser26839=)
c.102012C>T (p.Ser34004=)
c.102009C>T (p.Ser34003=)
c.101442C>T (p.Ser33814=)
c.98784C>T (p.Ser32928=)
c.98703C>T (p.Ser32901=)
c.80466C>T (p.Ser26822=)
c.70320C>T (p.Ser23440=)
 ClinVar gnomAD v4
2g.178527555G>CCA430234358TTN,TTN-AS1c.99867C>G (p.Ser33289=)
c.80952C>G (p.Ser26984=)
c.80751C>G (p.Ser26917=)
c.80376C>G (p.Ser26792=)
c.107571C>G (p.Ser35857=)
c.102648C>G (p.Ser34216=)
n.446+3919G>C
n.219+3919G>C
c.106668C>G (p.Ser35556=)
c.80562C>G (p.Ser26854=)
c.80421C>G (p.Ser26807=)
c.106464C>G (p.Ser35488=)
c.101862C>G (p.Ser33954=)
c.101859C>G (p.Ser33953=)
c.98901C>G (p.Ser32967=)
c.80517C>G (p.Ser26839=)
c.102012C>G (p.Ser34004=)
c.102009C>G (p.Ser34003=)
c.101442C>G (p.Ser33814=)
c.98784C>G (p.Ser32928=)
c.98703C>G (p.Ser32901=)
c.80466C>G (p.Ser26822=)
c.70320C>G (p.Ser23440=)
2g.178527555G>TCA430234359TTN,TTN-AS1c.99867C>A (p.Ser33289=)
c.80952C>A (p.Ser26984=)
c.80751C>A (p.Ser26917=)
c.80376C>A (p.Ser26792=)
c.107571C>A (p.Ser35857=)
c.102648C>A (p.Ser34216=)
n.446+3919G>T
n.219+3919G>T
c.106668C>A (p.Ser35556=)
c.80562C>A (p.Ser26854=)
c.80421C>A (p.Ser26807=)
c.106464C>A (p.Ser35488=)
c.101862C>A (p.Ser33954=)
c.101859C>A (p.Ser33953=)
c.98901C>A (p.Ser32967=)
c.80517C>A (p.Ser26839=)
c.102012C>A (p.Ser34004=)
c.102009C>A (p.Ser34003=)
c.101442C>A (p.Ser33814=)
c.98784C>A (p.Ser32928=)
c.98703C>A (p.Ser32901=)
c.80466C>A (p.Ser26822=)
c.70320C>A (p.Ser23440=)
2g.178527556G>ACA349400071TTN,TTN-AS1c.99866C>T (p.Ser33289Phe)
c.80951C>T (p.Ser26984Phe)
c.80750C>T (p.Ser26917Phe)
c.80375C>T (p.Ser26792Phe)
c.107570C>T (p.Ser35857Phe)
c.102647C>T (p.Ser34216Phe)
n.446+3920G>A
n.219+3920G>A
c.106667C>T (p.Ser35556Phe)
c.80561C>T (p.Ser26854Phe)
c.80420C>T (p.Ser26807Phe)
c.106463C>T (p.Ser35488Phe)
c.101861C>T (p.Ser33954Phe)
c.101858C>T (p.Ser33953Phe)
c.98900C>T (p.Ser32967Phe)
c.80516C>T (p.Ser26839Phe)
c.102011C>T (p.Ser34004Phe)
c.102008C>T (p.Ser34003Phe)
c.101441C>T (p.Ser33814Phe)
c.98783C>T (p.Ser32928Phe)
c.98702C>T (p.Ser32901Phe)
c.80465C>T (p.Ser26822Phe)
c.70319C>T (p.Ser23440Phe)
2g.178527556G>CCA349400070TTN,TTN-AS1c.99866C>G (p.Ser33289Cys)
c.80951C>G (p.Ser26984Cys)
c.80750C>G (p.Ser26917Cys)
c.80375C>G (p.Ser26792Cys)
c.107570C>G (p.Ser35857Cys)
c.102647C>G (p.Ser34216Cys)
n.446+3920G>C
n.219+3920G>C
c.106667C>G (p.Ser35556Cys)
c.80561C>G (p.Ser26854Cys)
c.80420C>G (p.Ser26807Cys)
c.106463C>G (p.Ser35488Cys)
c.101861C>G (p.Ser33954Cys)
c.101858C>G (p.Ser33953Cys)
c.98900C>G (p.Ser32967Cys)
c.80516C>G (p.Ser26839Cys)
c.102011C>G (p.Ser34004Cys)
c.102008C>G (p.Ser34003Cys)
c.101441C>G (p.Ser33814Cys)
c.98783C>G (p.Ser32928Cys)
c.98702C>G (p.Ser32901Cys)
c.80465C>G (p.Ser26822Cys)
c.70319C>G (p.Ser23440Cys)
 gnomAD v4
2g.178527556G>TCA349400069TTN,TTN-AS1c.99866C>A (p.Ser33289Tyr)
c.80951C>A (p.Ser26984Tyr)
c.80750C>A (p.Ser26917Tyr)
c.80375C>A (p.Ser26792Tyr)
c.107570C>A (p.Ser35857Tyr)
c.102647C>A (p.Ser34216Tyr)
n.446+3920G>T
n.219+3920G>T
c.106667C>A (p.Ser35556Tyr)
c.80561C>A (p.Ser26854Tyr)
c.80420C>A (p.Ser26807Tyr)
c.106463C>A (p.Ser35488Tyr)
c.101861C>A (p.Ser33954Tyr)
c.101858C>A (p.Ser33953Tyr)
c.98900C>A (p.Ser32967Tyr)
c.80516C>A (p.Ser26839Tyr)
c.102011C>A (p.Ser34004Tyr)
c.102008C>A (p.Ser34003Tyr)
c.101441C>A (p.Ser33814Tyr)
c.98783C>A (p.Ser32928Tyr)
c.98702C>A (p.Ser32901Tyr)
c.80465C>A (p.Ser26822Tyr)
c.70319C>A (p.Ser23440Tyr)
2g.178527557A>CCA349400073TTN,TTN-AS1c.99865T>G (p.Ser33289Ala)
c.80950T>G (p.Ser26984Ala)
c.80749T>G (p.Ser26917Ala)
c.80374T>G (p.Ser26792Ala)
c.107569T>G (p.Ser35857Ala)
c.102646T>G (p.Ser34216Ala)
n.446+3921A>C
n.219+3921A>C
c.106666T>G (p.Ser35556Ala)
c.80560T>G (p.Ser26854Ala)
c.80419T>G (p.Ser26807Ala)
c.106462T>G (p.Ser35488Ala)
c.101860T>G (p.Ser33954Ala)
c.101857T>G (p.Ser33953Ala)
c.98899T>G (p.Ser32967Ala)
c.80515T>G (p.Ser26839Ala)
c.102010T>G (p.Ser34004Ala)
c.102007T>G (p.Ser34003Ala)
c.101440T>G (p.Ser33814Ala)
c.98782T>G (p.Ser32928Ala)
c.98701T>G (p.Ser32901Ala)
c.80464T>G (p.Ser26822Ala)
c.70318T>G (p.Ser23440Ala)
2g.178527557A>GCA349400074TTN,TTN-AS1c.99865T>C (p.Ser33289Pro)
c.80950T>C (p.Ser26984Pro)
c.80749T>C (p.Ser26917Pro)
c.80374T>C (p.Ser26792Pro)
c.107569T>C (p.Ser35857Pro)
c.102646T>C (p.Ser34216Pro)
n.446+3921A>G
n.219+3921A>G
c.106666T>C (p.Ser35556Pro)
c.80560T>C (p.Ser26854Pro)
c.80419T>C (p.Ser26807Pro)
c.106462T>C (p.Ser35488Pro)
c.101860T>C (p.Ser33954Pro)
c.101857T>C (p.Ser33953Pro)
c.98899T>C (p.Ser32967Pro)
c.80515T>C (p.Ser26839Pro)
c.102010T>C (p.Ser34004Pro)
c.102007T>C (p.Ser34003Pro)
c.101440T>C (p.Ser33814Pro)
c.98782T>C (p.Ser32928Pro)
c.98701T>C (p.Ser32901Pro)
c.80464T>C (p.Ser26822Pro)
c.70318T>C (p.Ser23440Pro)
2g.178527557A>TCA349400075TTN,TTN-AS1c.99865T>A (p.Ser33289Thr)
c.80950T>A (p.Ser26984Thr)
c.80749T>A (p.Ser26917Thr)
c.80374T>A (p.Ser26792Thr)
c.107569T>A (p.Ser35857Thr)
c.102646T>A (p.Ser34216Thr)
n.446+3921A>T
n.219+3921A>T
c.106666T>A (p.Ser35556Thr)
c.80560T>A (p.Ser26854Thr)
c.80419T>A (p.Ser26807Thr)
c.106462T>A (p.Ser35488Thr)
c.101860T>A (p.Ser33954Thr)
c.101857T>A (p.Ser33953Thr)
c.98899T>A (p.Ser32967Thr)
c.80515T>A (p.Ser26839Thr)
c.102010T>A (p.Ser34004Thr)
c.102007T>A (p.Ser34003Thr)
c.101440T>A (p.Ser33814Thr)
c.98782T>A (p.Ser32928Thr)
c.98701T>A (p.Ser32901Thr)
c.80464T>A (p.Ser26822Thr)
c.70318T>A (p.Ser23440Thr)
2g.178527558C>ACA349400076TTN,TTN-AS1c.99864G>T (p.Met33288Ile)
c.80949G>T (p.Met26983Ile)
c.80748G>T (p.Met26916Ile)
c.80373G>T (p.Met26791Ile)
c.107568G>T (p.Met35856Ile)
c.102645G>T (p.Met34215Ile)
n.446+3922C>A
n.219+3922C>A
c.106665G>T (p.Met35555Ile)
c.80559G>T (p.Met26853Ile)
c.80418G>T (p.Met26806Ile)
c.106461G>T (p.Met35487Ile)
c.101859G>T (p.Met33953Ile)
c.101856G>T (p.Met33952Ile)
c.98898G>T (p.Met32966Ile)
c.80514G>T (p.Met26838Ile)
c.102009G>T (p.Met34003Ile)
c.102006G>T (p.Met34002Ile)
c.101439G>T (p.Met33813Ile)
c.98781G>T (p.Met32927Ile)
c.98700G>T (p.Met32900Ile)
c.80463G>T (p.Met26821Ile)
c.70317G>T (p.Met23439Ile)
2g.178527558C>GCA349400077TTN,TTN-AS1c.99864G>C (p.Met33288Ile)
c.80949G>C (p.Met26983Ile)
c.80748G>C (p.Met26916Ile)
c.80373G>C (p.Met26791Ile)
c.107568G>C (p.Met35856Ile)
c.102645G>C (p.Met34215Ile)
n.446+3922C>G
n.219+3922C>G
c.106665G>C (p.Met35555Ile)
c.80559G>C (p.Met26853Ile)
c.80418G>C (p.Met26806Ile)
c.106461G>C (p.Met35487Ile)
c.101859G>C (p.Met33953Ile)
c.101856G>C (p.Met33952Ile)
c.98898G>C (p.Met32966Ile)
c.80514G>C (p.Met26838Ile)
c.102009G>C (p.Met34003Ile)
c.102006G>C (p.Met34002Ile)
c.101439G>C (p.Met33813Ile)
c.98781G>C (p.Met32927Ile)
c.98700G>C (p.Met32900Ile)
c.80463G>C (p.Met26821Ile)
c.70317G>C (p.Met23439Ile)
2g.178527558C>TCA349400079TTN,TTN-AS1c.99864G>A (p.Met33288Ile)
c.80949G>A (p.Met26983Ile)
c.80748G>A (p.Met26916Ile)
c.80373G>A (p.Met26791Ile)
c.107568G>A (p.Met35856Ile)
c.102645G>A (p.Met34215Ile)
n.446+3922C>T
n.219+3922C>T
c.106665G>A (p.Met35555Ile)
c.80559G>A (p.Met26853Ile)
c.80418G>A (p.Met26806Ile)
c.106461G>A (p.Met35487Ile)
c.101859G>A (p.Met33953Ile)
c.101856G>A (p.Met33952Ile)
c.98898G>A (p.Met32966Ile)
c.80514G>A (p.Met26838Ile)
c.102009G>A (p.Met34003Ile)
c.102006G>A (p.Met34002Ile)
c.101439G>A (p.Met33813Ile)
c.98781G>A (p.Met32927Ile)
c.98700G>A (p.Met32900Ile)
c.80463G>A (p.Met26821Ile)
c.70317G>A (p.Met23439Ile)
2g.178527559A=CA1310508214TTN,TTN-AS1c.99863T= (p.Met33288=)
c.80948T= (p.Met26983=)
c.80747T= (p.Met26916=)
c.80372T= (p.Met26791=)
c.107567T= (p.Met35856=)
c.102644T= (p.Met34215=)
n.446+3923A=
n.219+3923A=
c.106664T= (p.Met35555=)
c.80558T= (p.Met26853=)
c.80417T= (p.Met26806=)
c.106460T= (p.Met35487=)
c.101858T= (p.Met33953=)
c.101855T= (p.Met33952=)
c.98897T= (p.Met32966=)
c.80513T= (p.Met26838=)
c.102008T= (p.Met34003=)
c.102005T= (p.Met34002=)
c.101438T= (p.Met33813=)
c.98780T= (p.Met32927=)
c.98699T= (p.Met32900=)
c.80462T= (p.Met26821=)
c.70316T= (p.Met23439=)
2g.178527559A>CCA349400082TTN,TTN-AS1c.99863T>G (p.Met33288Arg)
c.80948T>G (p.Met26983Arg)
c.80747T>G (p.Met26916Arg)
c.80372T>G (p.Met26791Arg)
c.107567T>G (p.Met35856Arg)
c.102644T>G (p.Met34215Arg)
n.446+3923A>C
n.219+3923A>C
c.106664T>G (p.Met35555Arg)
c.80558T>G (p.Met26853Arg)
c.80417T>G (p.Met26806Arg)
c.106460T>G (p.Met35487Arg)
c.101858T>G (p.Met33953Arg)
c.101855T>G (p.Met33952Arg)
c.98897T>G (p.Met32966Arg)
c.80513T>G (p.Met26838Arg)
c.102008T>G (p.Met34003Arg)
c.102005T>G (p.Met34002Arg)
c.101438T>G (p.Met33813Arg)
c.98780T>G (p.Met32927Arg)
c.98699T>G (p.Met32900Arg)
c.80462T>G (p.Met26821Arg)
c.70316T>G (p.Met23439Arg)
2g.178527559A>GCA349400080TTN,TTN-AS1c.99863T>C (p.Met33288Thr)
c.80948T>C (p.Met26983Thr)
c.80747T>C (p.Met26916Thr)
c.80372T>C (p.Met26791Thr)
c.107567T>C (p.Met35856Thr)
c.102644T>C (p.Met34215Thr)
n.446+3923A>G
n.219+3923A>G
c.106664T>C (p.Met35555Thr)
c.80558T>C (p.Met26853Thr)
c.80417T>C (p.Met26806Thr)
c.106460T>C (p.Met35487Thr)
c.101858T>C (p.Met33953Thr)
c.101855T>C (p.Met33952Thr)
c.98897T>C (p.Met32966Thr)
c.80513T>C (p.Met26838Thr)
c.102008T>C (p.Met34003Thr)
c.102005T>C (p.Met34002Thr)
c.101438T>C (p.Met33813Thr)
c.98780T>C (p.Met32927Thr)
c.98699T>C (p.Met32900Thr)
c.80462T>C (p.Met26821Thr)
c.70316T>C (p.Met23439Thr)
 dbSNP gnomAD v4
2g.178527559A>TCA349400081TTN,TTN-AS1c.99863T>A (p.Met33288Lys)
c.80948T>A (p.Met26983Lys)
c.80747T>A (p.Met26916Lys)
c.80372T>A (p.Met26791Lys)
c.107567T>A (p.Met35856Lys)
c.102644T>A (p.Met34215Lys)
n.446+3923A>T
n.219+3923A>T
c.106664T>A (p.Met35555Lys)
c.80558T>A (p.Met26853Lys)
c.80417T>A (p.Met26806Lys)
c.106460T>A (p.Met35487Lys)
c.101858T>A (p.Met33953Lys)
c.101855T>A (p.Met33952Lys)
c.98897T>A (p.Met32966Lys)
c.80513T>A (p.Met26838Lys)
c.102008T>A (p.Met34003Lys)
c.102005T>A (p.Met34002Lys)
c.101438T>A (p.Met33813Lys)
c.98780T>A (p.Met32927Lys)
c.98699T>A (p.Met32900Lys)
c.80462T>A (p.Met26821Lys)
c.70316T>A (p.Met23439Lys)
2g.178527560T>ACA349400083TTN,TTN-AS1c.99862A>T (p.Met33288Leu)
c.80947A>T (p.Met26983Leu)
c.80746A>T (p.Met26916Leu)
c.80371A>T (p.Met26791Leu)
c.107566A>T (p.Met35856Leu)
c.102643A>T (p.Met34215Leu)
n.446+3924T>A
n.219+3924T>A
c.106663A>T (p.Met35555Leu)
c.80557A>T (p.Met26853Leu)
c.80416A>T (p.Met26806Leu)
c.106459A>T (p.Met35487Leu)
c.101857A>T (p.Met33953Leu)
c.101854A>T (p.Met33952Leu)
c.98896A>T (p.Met32966Leu)
c.80512A>T (p.Met26838Leu)
c.102007A>T (p.Met34003Leu)
c.102004A>T (p.Met34002Leu)
c.101437A>T (p.Met33813Leu)
c.98779A>T (p.Met32927Leu)
c.98698A>T (p.Met32900Leu)
c.80461A>T (p.Met26821Leu)
c.70315A>T (p.Met23439Leu)
2g.178527560T>CCA349400084TTN,TTN-AS1c.99862A>G (p.Met33288Val)
c.80947A>G (p.Met26983Val)
c.80746A>G (p.Met26916Val)
c.80371A>G (p.Met26791Val)
c.107566A>G (p.Met35856Val)
c.102643A>G (p.Met34215Val)
n.446+3924T>C
n.219+3924T>C
c.106663A>G (p.Met35555Val)
c.80557A>G (p.Met26853Val)
c.80416A>G (p.Met26806Val)
c.106459A>G (p.Met35487Val)
c.101857A>G (p.Met33953Val)
c.101854A>G (p.Met33952Val)
c.98896A>G (p.Met32966Val)
c.80512A>G (p.Met26838Val)
c.102007A>G (p.Met34003Val)
c.102004A>G (p.Met34002Val)
c.101437A>G (p.Met33813Val)
c.98779A>G (p.Met32927Val)
c.98698A>G (p.Met32900Val)
c.80461A>G (p.Met26821Val)
c.70315A>G (p.Met23439Val)
2g.178527560T>GCA349400085TTN,TTN-AS1c.99862A>C (p.Met33288Leu)
c.80947A>C (p.Met26983Leu)
c.80746A>C (p.Met26916Leu)
c.80371A>C (p.Met26791Leu)
c.107566A>C (p.Met35856Leu)
c.102643A>C (p.Met34215Leu)
n.446+3924T>G
n.219+3924T>G
c.106663A>C (p.Met35555Leu)
c.80557A>C (p.Met26853Leu)
c.80416A>C (p.Met26806Leu)
c.106459A>C (p.Met35487Leu)
c.101857A>C (p.Met33953Leu)
c.101854A>C (p.Met33952Leu)
c.98896A>C (p.Met32966Leu)
c.80512A>C (p.Met26838Leu)
c.102007A>C (p.Met34003Leu)
c.102004A>C (p.Met34002Leu)
c.101437A>C (p.Met33813Leu)
c.98779A>C (p.Met32927Leu)
c.98698A>C (p.Met32900Leu)
c.80461A>C (p.Met26821Leu)
c.70315A>C (p.Met23439Leu)
2g.178527561G>ACA430234367TTN,TTN-AS1c.99861C>T (p.Ser33287=)
c.80946C>T (p.Ser26982=)
c.80745C>T (p.Ser26915=)
c.80370C>T (p.Ser26790=)
c.107565C>T (p.Ser35855=)
c.102642C>T (p.Ser34214=)
n.446+3925G>A
n.219+3925G>A
c.106662C>T (p.Ser35554=)
c.80556C>T (p.Ser26852=)
c.80415C>T (p.Ser26805=)
c.106458C>T (p.Ser35486=)
c.101856C>T (p.Ser33952=)
c.101853C>T (p.Ser33951=)
c.98895C>T (p.Ser32965=)
c.80511C>T (p.Ser26837=)
c.102006C>T (p.Ser34002=)
c.102003C>T (p.Ser34001=)
c.101436C>T (p.Ser33812=)
c.98778C>T (p.Ser32926=)
c.98697C>T (p.Ser32899=)
c.80460C>T (p.Ser26820=)
c.70314C>T (p.Ser23438=)
2g.178527561G>CCA349400086TTN,TTN-AS1c.99861C>G (p.Ser33287Arg)
c.80946C>G (p.Ser26982Arg)
c.80745C>G (p.Ser26915Arg)
c.80370C>G (p.Ser26790Arg)
c.107565C>G (p.Ser35855Arg)
c.102642C>G (p.Ser34214Arg)
n.446+3925G>C
n.219+3925G>C
c.106662C>G (p.Ser35554Arg)
c.80556C>G (p.Ser26852Arg)
c.80415C>G (p.Ser26805Arg)
c.106458C>G (p.Ser35486Arg)
c.101856C>G (p.Ser33952Arg)
c.101853C>G (p.Ser33951Arg)
c.98895C>G (p.Ser32965Arg)
c.80511C>G (p.Ser26837Arg)
c.102006C>G (p.Ser34002Arg)
c.102003C>G (p.Ser34001Arg)
c.101436C>G (p.Ser33812Arg)
c.98778C>G (p.Ser32926Arg)
c.98697C>G (p.Ser32899Arg)
c.80460C>G (p.Ser26820Arg)
c.70314C>G (p.Ser23438Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527561G=CA1310508219TTN,TTN-AS1c.99861C= (p.Ser33287=)
c.80946C= (p.Ser26982=)
c.80745C= (p.Ser26915=)
c.80370C= (p.Ser26790=)
c.107565C= (p.Ser35855=)
c.102642C= (p.Ser34214=)
n.446+3925G=
n.219+3925G=
c.106662C= (p.Ser35554=)
c.80556C= (p.Ser26852=)
c.80415C= (p.Ser26805=)
c.106458C= (p.Ser35486=)
c.101856C= (p.Ser33952=)
c.101853C= (p.Ser33951=)
c.98895C= (p.Ser32965=)
c.80511C= (p.Ser26837=)
c.102006C= (p.Ser34002=)
c.102003C= (p.Ser34001=)
c.101436C= (p.Ser33812=)
c.98778C= (p.Ser32926=)
c.98697C= (p.Ser32899=)
c.80460C= (p.Ser26820=)
c.70314C= (p.Ser23438=)
2g.178527561G>TCA349400087TTN,TTN-AS1c.99861C>A (p.Ser33287Arg)
c.80946C>A (p.Ser26982Arg)
c.80745C>A (p.Ser26915Arg)
c.80370C>A (p.Ser26790Arg)
c.107565C>A (p.Ser35855Arg)
c.102642C>A (p.Ser34214Arg)
n.446+3925G>T
n.219+3925G>T
c.106662C>A (p.Ser35554Arg)
c.80556C>A (p.Ser26852Arg)
c.80415C>A (p.Ser26805Arg)
c.106458C>A (p.Ser35486Arg)
c.101856C>A (p.Ser33952Arg)
c.101853C>A (p.Ser33951Arg)
c.98895C>A (p.Ser32965Arg)
c.80511C>A (p.Ser26837Arg)
c.102006C>A (p.Ser34002Arg)
c.102003C>A (p.Ser34001Arg)
c.101436C>A (p.Ser33812Arg)
c.98778C>A (p.Ser32926Arg)
c.98697C>A (p.Ser32899Arg)
c.80460C>A (p.Ser26820Arg)
c.70314C>A (p.Ser23438Arg)
2g.178527562C>ACA60949238TTN,TTN-AS1c.99860G>T (p.Ser33287Ile)
c.80945G>T (p.Ser26982Ile)
c.80744G>T (p.Ser26915Ile)
c.80369G>T (p.Ser26790Ile)
c.107564G>T (p.Ser35855Ile)
c.102641G>T (p.Ser34214Ile)
n.446+3926C>A
n.219+3926C>A
c.106661G>T (p.Ser35554Ile)
c.80555G>T (p.Ser26852Ile)
c.80414G>T (p.Ser26805Ile)
c.106457G>T (p.Ser35486Ile)
c.101855G>T (p.Ser33952Ile)
c.101852G>T (p.Ser33951Ile)
c.98894G>T (p.Ser32965Ile)
c.80510G>T (p.Ser26837Ile)
c.102005G>T (p.Ser34002Ile)
c.102002G>T (p.Ser34001Ile)
c.101435G>T (p.Ser33812Ile)
c.98777G>T (p.Ser32926Ile)
c.98696G>T (p.Ser32899Ile)
c.80459G>T (p.Ser26820Ile)
c.70313G>T (p.Ser23438Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527562C=CA1310508228TTN,TTN-AS1c.99860G= (p.Ser33287=)
c.80945G= (p.Ser26982=)
c.80744G= (p.Ser26915=)
c.80369G= (p.Ser26790=)
c.107564G= (p.Ser35855=)
c.102641G= (p.Ser34214=)
n.446+3926C=
n.219+3926C=
c.106661G= (p.Ser35554=)
c.80555G= (p.Ser26852=)
c.80414G= (p.Ser26805=)
c.106457G= (p.Ser35486=)
c.101855G= (p.Ser33952=)
c.101852G= (p.Ser33951=)
c.98894G= (p.Ser32965=)
c.80510G= (p.Ser26837=)
c.102005G= (p.Ser34002=)
c.102002G= (p.Ser34001=)
c.101435G= (p.Ser33812=)
c.98777G= (p.Ser32926=)
c.98696G= (p.Ser32899=)
c.80459G= (p.Ser26820=)
c.70313G= (p.Ser23438=)
2g.178527562C>GCA349400089TTN,TTN-AS1c.99860G>C (p.Ser33287Thr)
c.80945G>C (p.Ser26982Thr)
c.80744G>C (p.Ser26915Thr)
c.80369G>C (p.Ser26790Thr)
c.107564G>C (p.Ser35855Thr)
c.102641G>C (p.Ser34214Thr)
n.446+3926C>G
n.219+3926C>G
c.106661G>C (p.Ser35554Thr)
c.80555G>C (p.Ser26852Thr)
c.80414G>C (p.Ser26805Thr)
c.106457G>C (p.Ser35486Thr)
c.101855G>C (p.Ser33952Thr)
c.101852G>C (p.Ser33951Thr)
c.98894G>C (p.Ser32965Thr)
c.80510G>C (p.Ser26837Thr)
c.102005G>C (p.Ser34002Thr)
c.102002G>C (p.Ser34001Thr)
c.101435G>C (p.Ser33812Thr)
c.98777G>C (p.Ser32926Thr)
c.98696G>C (p.Ser32899Thr)
c.80459G>C (p.Ser26820Thr)
c.70313G>C (p.Ser23438Thr)
2g.178527562C>TCA349400088TTN,TTN-AS1c.99860G>A (p.Ser33287Asn)
c.80945G>A (p.Ser26982Asn)
c.80744G>A (p.Ser26915Asn)
c.80369G>A (p.Ser26790Asn)
c.107564G>A (p.Ser35855Asn)
c.102641G>A (p.Ser34214Asn)
n.446+3926C>T
n.219+3926C>T
c.106661G>A (p.Ser35554Asn)
c.80555G>A (p.Ser26852Asn)
c.80414G>A (p.Ser26805Asn)
c.106457G>A (p.Ser35486Asn)
c.101855G>A (p.Ser33952Asn)
c.101852G>A (p.Ser33951Asn)
c.98894G>A (p.Ser32965Asn)
c.80510G>A (p.Ser26837Asn)
c.102005G>A (p.Ser34002Asn)
c.102002G>A (p.Ser34001Asn)
c.101435G>A (p.Ser33812Asn)
c.98777G>A (p.Ser32926Asn)
c.98696G>A (p.Ser32899Asn)
c.80459G>A (p.Ser26820Asn)
c.70313G>A (p.Ser23438Asn)
2g.178527563T>ACA349400090TTN,TTN-AS1c.99859A>T (p.Ser33287Cys)
c.80944A>T (p.Ser26982Cys)
c.80743A>T (p.Ser26915Cys)
c.80368A>T (p.Ser26790Cys)
c.107563A>T (p.Ser35855Cys)
c.102640A>T (p.Ser34214Cys)
n.446+3927T>A
n.219+3927T>A
c.106660A>T (p.Ser35554Cys)
c.80554A>T (p.Ser26852Cys)
c.80413A>T (p.Ser26805Cys)
c.106456A>T (p.Ser35486Cys)
c.101854A>T (p.Ser33952Cys)
c.101851A>T (p.Ser33951Cys)
c.98893A>T (p.Ser32965Cys)
c.80509A>T (p.Ser26837Cys)
c.102004A>T (p.Ser34002Cys)
c.102001A>T (p.Ser34001Cys)
c.101434A>T (p.Ser33812Cys)
c.98776A>T (p.Ser32926Cys)
c.98695A>T (p.Ser32899Cys)
c.80458A>T (p.Ser26820Cys)
c.70312A>T (p.Ser23438Cys)
2g.178527563T>CCA349400091TTN,TTN-AS1c.99859A>G (p.Ser33287Gly)
c.80944A>G (p.Ser26982Gly)
c.80743A>G (p.Ser26915Gly)
c.80368A>G (p.Ser26790Gly)
c.107563A>G (p.Ser35855Gly)
c.102640A>G (p.Ser34214Gly)
n.446+3927T>C
n.219+3927T>C
c.106660A>G (p.Ser35554Gly)
c.80554A>G (p.Ser26852Gly)
c.80413A>G (p.Ser26805Gly)
c.106456A>G (p.Ser35486Gly)
c.101854A>G (p.Ser33952Gly)
c.101851A>G (p.Ser33951Gly)
c.98893A>G (p.Ser32965Gly)
c.80509A>G (p.Ser26837Gly)
c.102004A>G (p.Ser34002Gly)
c.102001A>G (p.Ser34001Gly)
c.101434A>G (p.Ser33812Gly)
c.98776A>G (p.Ser32926Gly)
c.98695A>G (p.Ser32899Gly)
c.80458A>G (p.Ser26820Gly)
c.70312A>G (p.Ser23438Gly)
 gnomAD v4
2g.178527563T>GCA60949242TTN,TTN-AS1c.99859A>C (p.Ser33287Arg)
c.80944A>C (p.Ser26982Arg)
c.80743A>C (p.Ser26915Arg)
c.80368A>C (p.Ser26790Arg)
c.107563A>C (p.Ser35855Arg)
c.102640A>C (p.Ser34214Arg)
n.446+3927T>G
n.219+3927T>G
c.106660A>C (p.Ser35554Arg)
c.80554A>C (p.Ser26852Arg)
c.80413A>C (p.Ser26805Arg)
c.106456A>C (p.Ser35486Arg)
c.101854A>C (p.Ser33952Arg)
c.101851A>C (p.Ser33951Arg)
c.98893A>C (p.Ser32965Arg)
c.80509A>C (p.Ser26837Arg)
c.102004A>C (p.Ser34002Arg)
c.102001A>C (p.Ser34001Arg)
c.101434A>C (p.Ser33812Arg)
c.98776A>C (p.Ser32926Arg)
c.98695A>C (p.Ser32899Arg)
c.80458A>C (p.Ser26820Arg)
c.70312A>C (p.Ser23438Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178527563T=CA1310508232TTN,TTN-AS1c.99859A= (p.Ser33287=)
c.80944A= (p.Ser26982=)
c.80743A= (p.Ser26915=)
c.80368A= (p.Ser26790=)
c.107563A= (p.Ser35855=)
c.102640A= (p.Ser34214=)
n.446+3927T=
n.219+3927T=
c.106660A= (p.Ser35554=)
c.80554A= (p.Ser26852=)
c.80413A= (p.Ser26805=)
c.106456A= (p.Ser35486=)
c.101854A= (p.Ser33952=)
c.101851A= (p.Ser33951=)
c.98893A= (p.Ser32965=)
c.80509A= (p.Ser26837=)
c.102004A= (p.Ser34002=)
c.102001A= (p.Ser34001=)
c.101434A= (p.Ser33812=)
c.98776A= (p.Ser32926=)
c.98695A= (p.Ser32899=)
c.80458A= (p.Ser26820=)
c.70312A= (p.Ser23438=)
2g.178527564T>ACA349400092TTN,TTN-AS1c.99858A>T (p.Gln33286His)
c.80943A>T (p.Gln26981His)
c.80742A>T (p.Gln26914His)
c.80367A>T (p.Gln26789His)
c.107562A>T (p.Gln35854His)
c.102639A>T (p.Gln34213His)
n.446+3928T>A
n.219+3928T>A
c.106659A>T (p.Gln35553His)
c.80553A>T (p.Gln26851His)
c.80412A>T (p.Gln26804His)
c.106455A>T (p.Gln35485His)
c.101853A>T (p.Gln33951His)
c.101850A>T (p.Gln33950His)
c.98892A>T (p.Gln32964His)
c.80508A>T (p.Gln26836His)
c.102003A>T (p.Gln34001His)
c.102000A>T (p.Gln34000His)
c.101433A>T (p.Gln33811His)
c.98775A>T (p.Gln32925His)
c.98694A>T (p.Gln32898His)
c.80457A>T (p.Gln26819His)
c.70311A>T (p.Gln23437His)
2g.178527564T>CCA430234372TTN,TTN-AS1c.99858A>G (p.Gln33286=)
c.80943A>G (p.Gln26981=)
c.80742A>G (p.Gln26914=)
c.80367A>G (p.Gln26789=)
c.107562A>G (p.Gln35854=)
c.102639A>G (p.Gln34213=)
n.446+3928T>C
n.219+3928T>C
c.106659A>G (p.Gln35553=)
c.80553A>G (p.Gln26851=)
c.80412A>G (p.Gln26804=)
c.106455A>G (p.Gln35485=)
c.101853A>G (p.Gln33951=)
c.101850A>G (p.Gln33950=)
c.98892A>G (p.Gln32964=)
c.80508A>G (p.Gln26836=)
c.102003A>G (p.Gln34001=)
c.102000A>G (p.Gln34000=)
c.101433A>G (p.Gln33811=)
c.98775A>G (p.Gln32925=)
c.98694A>G (p.Gln32898=)
c.80457A>G (p.Gln26819=)
c.70311A>G (p.Gln23437=)
2g.178527564T>GCA349400093TTN,TTN-AS1c.99858A>C (p.Gln33286His)
c.80943A>C (p.Gln26981His)
c.80742A>C (p.Gln26914His)
c.80367A>C (p.Gln26789His)
c.107562A>C (p.Gln35854His)
c.102639A>C (p.Gln34213His)
n.446+3928T>G
n.219+3928T>G
c.106659A>C (p.Gln35553His)
c.80553A>C (p.Gln26851His)
c.80412A>C (p.Gln26804His)
c.106455A>C (p.Gln35485His)
c.101853A>C (p.Gln33951His)
c.101850A>C (p.Gln33950His)
c.98892A>C (p.Gln32964His)
c.80508A>C (p.Gln26836His)
c.102003A>C (p.Gln34001His)
c.102000A>C (p.Gln34000His)
c.101433A>C (p.Gln33811His)
c.98775A>C (p.Gln32925His)
c.98694A>C (p.Gln32898His)
c.80457A>C (p.Gln26819His)
c.70311A>C (p.Gln23437His)
2g.178527565T>ACA349400094TTN,TTN-AS1c.99857A>T (p.Gln33286Leu)
c.80942A>T (p.Gln26981Leu)
c.80741A>T (p.Gln26914Leu)
c.80366A>T (p.Gln26789Leu)
c.107561A>T (p.Gln35854Leu)
c.102638A>T (p.Gln34213Leu)
n.446+3929T>A
n.219+3929T>A
c.106658A>T (p.Gln35553Leu)
c.80552A>T (p.Gln26851Leu)
c.80411A>T (p.Gln26804Leu)
c.106454A>T (p.Gln35485Leu)
c.101852A>T (p.Gln33951Leu)
c.101849A>T (p.Gln33950Leu)
c.98891A>T (p.Gln32964Leu)
c.80507A>T (p.Gln26836Leu)
c.102002A>T (p.Gln34001Leu)
c.101999A>T (p.Gln34000Leu)
c.101432A>T (p.Gln33811Leu)
c.98774A>T (p.Gln32925Leu)
c.98693A>T (p.Gln32898Leu)
c.80456A>T (p.Gln26819Leu)
c.70310A>T (p.Gln23437Leu)
2g.178527565T>CCA349400095TTN,TTN-AS1c.99857A>G (p.Gln33286Arg)
c.80942A>G (p.Gln26981Arg)
c.80741A>G (p.Gln26914Arg)
c.80366A>G (p.Gln26789Arg)
c.107561A>G (p.Gln35854Arg)
c.102638A>G (p.Gln34213Arg)
n.446+3929T>C
n.219+3929T>C
c.106658A>G (p.Gln35553Arg)
c.80552A>G (p.Gln26851Arg)
c.80411A>G (p.Gln26804Arg)
c.106454A>G (p.Gln35485Arg)
c.101852A>G (p.Gln33951Arg)
c.101849A>G (p.Gln33950Arg)
c.98891A>G (p.Gln32964Arg)
c.80507A>G (p.Gln26836Arg)
c.102002A>G (p.Gln34001Arg)
c.101999A>G (p.Gln34000Arg)
c.101432A>G (p.Gln33811Arg)
c.98774A>G (p.Gln32925Arg)
c.98693A>G (p.Gln32898Arg)
c.80456A>G (p.Gln26819Arg)
c.70310A>G (p.Gln23437Arg)
2g.178527565T>GCA349400096TTN,TTN-AS1c.99857A>C (p.Gln33286Pro)
c.80942A>C (p.Gln26981Pro)
c.80741A>C (p.Gln26914Pro)
c.80366A>C (p.Gln26789Pro)
c.107561A>C (p.Gln35854Pro)
c.102638A>C (p.Gln34213Pro)
n.446+3929T>G
n.219+3929T>G
c.106658A>C (p.Gln35553Pro)
c.80552A>C (p.Gln26851Pro)
c.80411A>C (p.Gln26804Pro)
c.106454A>C (p.Gln35485Pro)
c.101852A>C (p.Gln33951Pro)
c.101849A>C (p.Gln33950Pro)
c.98891A>C (p.Gln32964Pro)
c.80507A>C (p.Gln26836Pro)
c.102002A>C (p.Gln34001Pro)
c.101999A>C (p.Gln34000Pro)
c.101432A>C (p.Gln33811Pro)
c.98774A>C (p.Gln32925Pro)
c.98693A>C (p.Gln32898Pro)
c.80456A>C (p.Gln26819Pro)
c.70310A>C (p.Gln23437Pro)
2g.178527566G>ACA349400097TTN,TTN-AS1c.99856C>T (p.Gln33286Ter)
c.80941C>T (p.Gln26981Ter)
c.80740C>T (p.Gln26914Ter)
c.80365C>T (p.Gln26789Ter)
c.107560C>T (p.Gln35854Ter)
c.102637C>T (p.Gln34213Ter)
n.446+3930G>A
n.219+3930G>A
c.106657C>T (p.Gln35553Ter)
c.80551C>T (p.Gln26851Ter)
c.80410C>T (p.Gln26804Ter)
c.106453C>T (p.Gln35485Ter)
c.101851C>T (p.Gln33951Ter)
c.101848C>T (p.Gln33950Ter)
c.98890C>T (p.Gln32964Ter)
c.80506C>T (p.Gln26836Ter)
c.102001C>T (p.Gln34001Ter)
c.101998C>T (p.Gln34000Ter)
c.101431C>T (p.Gln33811Ter)
c.98773C>T (p.Gln32925Ter)
c.98692C>T (p.Gln32898Ter)
c.80455C>T (p.Gln26819Ter)
c.70309C>T (p.Gln23437Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178527566G>CCA349400098TTN,TTN-AS1c.99856C>G (p.Gln33286Glu)
c.80941C>G (p.Gln26981Glu)
c.80740C>G (p.Gln26914Glu)
c.80365C>G (p.Gln26789Glu)
c.107560C>G (p.Gln35854Glu)
c.102637C>G (p.Gln34213Glu)
n.446+3930G>C
n.219+3930G>C
c.106657C>G (p.Gln35553Glu)
c.80551C>G (p.Gln26851Glu)
c.80410C>G (p.Gln26804Glu)
c.106453C>G (p.Gln35485Glu)
c.101851C>G (p.Gln33951Glu)
c.101848C>G (p.Gln33950Glu)
c.98890C>G (p.Gln32964Glu)
c.80506C>G (p.Gln26836Glu)
c.102001C>G (p.Gln34001Glu)
c.101998C>G (p.Gln34000Glu)
c.101431C>G (p.Gln33811Glu)
c.98773C>G (p.Gln32925Glu)
c.98692C>G (p.Gln32898Glu)
c.80455C>G (p.Gln26819Glu)
c.70309C>G (p.Gln23437Glu)
2g.178527566G>TCA349400099TTN,TTN-AS1c.99856C>A (p.Gln33286Lys)
c.80941C>A (p.Gln26981Lys)
c.80740C>A (p.Gln26914Lys)
c.80365C>A (p.Gln26789Lys)
c.107560C>A (p.Gln35854Lys)
c.102637C>A (p.Gln34213Lys)
n.446+3930G>T
n.219+3930G>T
c.106657C>A (p.Gln35553Lys)
c.80551C>A (p.Gln26851Lys)
c.80410C>A (p.Gln26804Lys)
c.106453C>A (p.Gln35485Lys)
c.101851C>A (p.Gln33951Lys)
c.101848C>A (p.Gln33950Lys)
c.98890C>A (p.Gln32964Lys)
c.80506C>A (p.Gln26836Lys)
c.102001C>A (p.Gln34001Lys)
c.101998C>A (p.Gln34000Lys)
c.101431C>A (p.Gln33811Lys)
c.98773C>A (p.Gln32925Lys)
c.98692C>A (p.Gln32898Lys)
c.80455C>A (p.Gln26819Lys)
c.70309C>A (p.Gln23437Lys)
2g.178527567G>ACA430234375TTN,TTN-AS1c.99855C>T (p.Ala33285=)
c.80940C>T (p.Ala26980=)
c.80739C>T (p.Ala26913=)
c.80364C>T (p.Ala26788=)
c.107559C>T (p.Ala35853=)
c.102636C>T (p.Ala34212=)
n.446+3931G>A
n.219+3931G>A
c.106656C>T (p.Ala35552=)
c.80550C>T (p.Ala26850=)
c.80409C>T (p.Ala26803=)
c.106452C>T (p.Ala35484=)
c.101850C>T (p.Ala33950=)
c.101847C>T (p.Ala33949=)
c.98889C>T (p.Ala32963=)
c.80505C>T (p.Ala26835=)
c.102000C>T (p.Ala34000=)
c.101997C>T (p.Ala33999=)
c.101430C>T (p.Ala33810=)
c.98772C>T (p.Ala32924=)
c.98691C>T (p.Ala32897=)
c.80454C>T (p.Ala26818=)
c.70308C>T (p.Ala23436=)
 dbSNP gnomAD v3 gnomAD v4
2g.178527567G>CCA16610287TTN,TTN-AS1c.99855C>G (p.Ala33285=)
c.80940C>G (p.Ala26980=)
c.80739C>G (p.Ala26913=)
c.80364C>G (p.Ala26788=)
c.107559C>G (p.Ala35853=)
c.102636C>G (p.Ala34212=)
n.446+3931G>C
n.219+3931G>C
c.106656C>G (p.Ala35552=)
c.80550C>G (p.Ala26850=)
c.80409C>G (p.Ala26803=)
c.106452C>G (p.Ala35484=)
c.101850C>G (p.Ala33950=)
c.101847C>G (p.Ala33949=)
c.98889C>G (p.Ala32963=)
c.80505C>G (p.Ala26835=)
c.102000C>G (p.Ala34000=)
c.101997C>G (p.Ala33999=)
c.101430C>G (p.Ala33810=)
c.98772C>G (p.Ala32924=)
c.98691C>G (p.Ala32897=)
c.80454C>G (p.Ala26818=)
c.70308C>G (p.Ala23436=)
 ClinVar dbSNP gnomAD v4
2g.178527567G=CA1310508236TTN,TTN-AS1c.99855C= (p.Ala33285=)
c.80940C= (p.Ala26980=)
c.80739C= (p.Ala26913=)
c.80364C= (p.Ala26788=)
c.107559C= (p.Ala35853=)
c.102636C= (p.Ala34212=)
n.446+3931G=
n.219+3931G=
c.106656C= (p.Ala35552=)
c.80550C= (p.Ala26850=)
c.80409C= (p.Ala26803=)
c.106452C= (p.Ala35484=)
c.101850C= (p.Ala33950=)
c.101847C= (p.Ala33949=)
c.98889C= (p.Ala32963=)
c.80505C= (p.Ala26835=)
c.102000C= (p.Ala34000=)
c.101997C= (p.Ala33999=)
c.101430C= (p.Ala33810=)
c.98772C= (p.Ala32924=)
c.98691C= (p.Ala32897=)
c.80454C= (p.Ala26818=)
c.70308C= (p.Ala23436=)
2g.178527567G>TCA430234374TTN,TTN-AS1c.99855C>A (p.Ala33285=)
c.80940C>A (p.Ala26980=)
c.80739C>A (p.Ala26913=)
c.80364C>A (p.Ala26788=)
c.107559C>A (p.Ala35853=)
c.102636C>A (p.Ala34212=)
n.446+3931G>T
n.219+3931G>T
c.106656C>A (p.Ala35552=)
c.80550C>A (p.Ala26850=)
c.80409C>A (p.Ala26803=)
c.106452C>A (p.Ala35484=)
c.101850C>A (p.Ala33950=)
c.101847C>A (p.Ala33949=)
c.98889C>A (p.Ala32963=)
c.80505C>A (p.Ala26835=)
c.102000C>A (p.Ala34000=)
c.101997C>A (p.Ala33999=)
c.101430C>A (p.Ala33810=)
c.98772C>A (p.Ala32924=)
c.98691C>A (p.Ala32897=)
c.80454C>A (p.Ala26818=)
c.70308C>A (p.Ala23436=)
2g.178527568G>ACA349400103TTN,TTN-AS1c.99854C>T (p.Ala33285Val)
c.80939C>T (p.Ala26980Val)
c.80738C>T (p.Ala26913Val)
c.80363C>T (p.Ala26788Val)
c.107558C>T (p.Ala35853Val)
c.102635C>T (p.Ala34212Val)
n.446+3932G>A
n.219+3932G>A
c.106655C>T (p.Ala35552Val)
c.80549C>T (p.Ala26850Val)
c.80408C>T (p.Ala26803Val)
c.106451C>T (p.Ala35484Val)
c.101849C>T (p.Ala33950Val)
c.101846C>T (p.Ala33949Val)
c.98888C>T (p.Ala32963Val)
c.80504C>T (p.Ala26835Val)
c.101999C>T (p.Ala34000Val)
c.101996C>T (p.Ala33999Val)
c.101429C>T (p.Ala33810Val)
c.98771C>T (p.Ala32924Val)
c.98690C>T (p.Ala32897Val)
c.80453C>T (p.Ala26818Val)
c.70307C>T (p.Ala23436Val)
 COSMIC COSMIC COSMIC
2g.178527568G>CCA349400102TTN,TTN-AS1c.99854C>G (p.Ala33285Gly)
c.80939C>G (p.Ala26980Gly)
c.80738C>G (p.Ala26913Gly)
c.80363C>G (p.Ala26788Gly)
c.107558C>G (p.Ala35853Gly)
c.102635C>G (p.Ala34212Gly)
n.446+3932G>C
n.219+3932G>C
c.106655C>G (p.Ala35552Gly)
c.80549C>G (p.Ala26850Gly)
c.80408C>G (p.Ala26803Gly)
c.106451C>G (p.Ala35484Gly)
c.101849C>G (p.Ala33950Gly)
c.101846C>G (p.Ala33949Gly)
c.98888C>G (p.Ala32963Gly)
c.80504C>G (p.Ala26835Gly)
c.101999C>G (p.Ala34000Gly)
c.101996C>G (p.Ala33999Gly)
c.101429C>G (p.Ala33810Gly)
c.98771C>G (p.Ala32924Gly)
c.98690C>G (p.Ala32897Gly)
c.80453C>G (p.Ala26818Gly)
c.70307C>G (p.Ala23436Gly)
2g.178527568G>TCA349400101TTN,TTN-AS1c.99854C>A (p.Ala33285Asp)
c.80939C>A (p.Ala26980Asp)
c.80738C>A (p.Ala26913Asp)
c.80363C>A (p.Ala26788Asp)
c.107558C>A (p.Ala35853Asp)
c.102635C>A (p.Ala34212Asp)
n.446+3932G>T
n.219+3932G>T
c.106655C>A (p.Ala35552Asp)
c.80549C>A (p.Ala26850Asp)
c.80408C>A (p.Ala26803Asp)
c.106451C>A (p.Ala35484Asp)
c.101849C>A (p.Ala33950Asp)
c.101846C>A (p.Ala33949Asp)
c.98888C>A (p.Ala32963Asp)
c.80504C>A (p.Ala26835Asp)
c.101999C>A (p.Ala34000Asp)
c.101996C>A (p.Ala33999Asp)
c.101429C>A (p.Ala33810Asp)
c.98771C>A (p.Ala32924Asp)
c.98690C>A (p.Ala32897Asp)
c.80453C>A (p.Ala26818Asp)
c.70307C>A (p.Ala23436Asp)
2g.178527569C>ACA349400104TTN,TTN-AS1c.99853G>T (p.Ala33285Ser)
c.80938G>T (p.Ala26980Ser)
c.80737G>T (p.Ala26913Ser)
c.80362G>T (p.Ala26788Ser)
c.107557G>T (p.Ala35853Ser)
c.102634G>T (p.Ala34212Ser)
n.446+3933C>A
n.219+3933C>A
c.106654G>T (p.Ala35552Ser)
c.80548G>T (p.Ala26850Ser)
c.80407G>T (p.Ala26803Ser)
c.106450G>T (p.Ala35484Ser)
c.101848G>T (p.Ala33950Ser)
c.101845G>T (p.Ala33949Ser)
c.98887G>T (p.Ala32963Ser)
c.80503G>T (p.Ala26835Ser)
c.101998G>T (p.Ala34000Ser)
c.101995G>T (p.Ala33999Ser)
c.101428G>T (p.Ala33810Ser)
c.98770G>T (p.Ala32924Ser)
c.98689G>T (p.Ala32897Ser)
c.80452G>T (p.Ala26818Ser)
c.70306G>T (p.Ala23436Ser)
2g.178527569C=CA1310508243TTN,TTN-AS1c.99853G= (p.Ala33285=)
c.80938G= (p.Ala26980=)
c.80737G= (p.Ala26913=)
c.80362G= (p.Ala26788=)
c.107557G= (p.Ala35853=)
c.102634G= (p.Ala34212=)
n.446+3933C=
n.219+3933C=
c.106654G= (p.Ala35552=)
c.80548G= (p.Ala26850=)
c.80407G= (p.Ala26803=)
c.106450G= (p.Ala35484=)
c.101848G= (p.Ala33950=)
c.101845G= (p.Ala33949=)
c.98887G= (p.Ala32963=)
c.80503G= (p.Ala26835=)
c.101998G= (p.Ala34000=)
c.101995G= (p.Ala33999=)
c.101428G= (p.Ala33810=)
c.98770G= (p.Ala32924=)
c.98689G= (p.Ala32897=)
c.80452G= (p.Ala26818=)
c.70306G= (p.Ala23436=)
2g.178527569C>GCA349400106TTN,TTN-AS1c.99853G>C (p.Ala33285Pro)
c.80938G>C (p.Ala26980Pro)
c.80737G>C (p.Ala26913Pro)
c.80362G>C (p.Ala26788Pro)
c.107557G>C (p.Ala35853Pro)
c.102634G>C (p.Ala34212Pro)
n.446+3933C>G
n.219+3933C>G
c.106654G>C (p.Ala35552Pro)
c.80548G>C (p.Ala26850Pro)
c.80407G>C (p.Ala26803Pro)
c.106450G>C (p.Ala35484Pro)
c.101848G>C (p.Ala33950Pro)
c.101845G>C (p.Ala33949Pro)
c.98887G>C (p.Ala32963Pro)
c.80503G>C (p.Ala26835Pro)
c.101998G>C (p.Ala34000Pro)
c.101995G>C (p.Ala33999Pro)
c.101428G>C (p.Ala33810Pro)
c.98770G>C (p.Ala32924Pro)
c.98689G>C (p.Ala32897Pro)
c.80452G>C (p.Ala26818Pro)
c.70306G>C (p.Ala23436Pro)
2g.178527569C>TCA349400105TTN,TTN-AS1c.99853G>A (p.Ala33285Thr)
c.80938G>A (p.Ala26980Thr)
c.80737G>A (p.Ala26913Thr)
c.80362G>A (p.Ala26788Thr)
c.107557G>A (p.Ala35853Thr)
c.102634G>A (p.Ala34212Thr)
n.446+3933C>T
n.219+3933C>T
c.106654G>A (p.Ala35552Thr)
c.80548G>A (p.Ala26850Thr)
c.80407G>A (p.Ala26803Thr)
c.106450G>A (p.Ala35484Thr)
c.101848G>A (p.Ala33950Thr)
c.101845G>A (p.Ala33949Thr)
c.98887G>A (p.Ala32963Thr)
c.80503G>A (p.Ala26835Thr)
c.101998G>A (p.Ala34000Thr)
c.101995G>A (p.Ala33999Thr)
c.101428G>A (p.Ala33810Thr)
c.98770G>A (p.Ala32924Thr)
c.98689G>A (p.Ala32897Thr)
c.80452G>A (p.Ala26818Thr)
c.70306G>A (p.Ala23436Thr)
 ClinVar dbSNP gnomAD v4
2g.178527570A=CA1310508246TTN,TTN-AS1c.99852T= (p.Ser33284=)
c.80937T= (p.Ser26979=)
c.80736T= (p.Ser26912=)
c.80361T= (p.Ser26787=)
c.107556T= (p.Ser35852=)
c.102633T= (p.Ser34211=)
n.446+3934A=
n.219+3934A=
c.106653T= (p.Ser35551=)
c.80547T= (p.Ser26849=)
c.80406T= (p.Ser26802=)
c.106449T= (p.Ser35483=)
c.101847T= (p.Ser33949=)
c.101844T= (p.Ser33948=)
c.98886T= (p.Ser32962=)
c.80502T= (p.Ser26834=)
c.101997T= (p.Ser33999=)
c.101994T= (p.Ser33998=)
c.101427T= (p.Ser33809=)
c.98769T= (p.Ser32923=)
c.98688T= (p.Ser32896=)
c.80451T= (p.Ser26817=)
c.70305T= (p.Ser23435=)
2g.178527570A>CCA430234381TTN,TTN-AS1c.99852T>G (p.Ser33284=)
c.80937T>G (p.Ser26979=)
c.80736T>G (p.Ser26912=)
c.80361T>G (p.Ser26787=)
c.107556T>G (p.Ser35852=)
c.102633T>G (p.Ser34211=)
n.446+3934A>C
n.219+3934A>C
c.106653T>G (p.Ser35551=)
c.80547T>G (p.Ser26849=)
c.80406T>G (p.Ser26802=)
c.106449T>G (p.Ser35483=)
c.101847T>G (p.Ser33949=)
c.101844T>G (p.Ser33948=)
c.98886T>G (p.Ser32962=)
c.80502T>G (p.Ser26834=)
c.101997T>G (p.Ser33999=)
c.101994T>G (p.Ser33998=)
c.101427T>G (p.Ser33809=)
c.98769T>G (p.Ser32923=)
c.98688T>G (p.Ser32896=)
c.80451T>G (p.Ser26817=)
c.70305T>G (p.Ser23435=)
2g.178527570A>GCA430234382TTN,TTN-AS1c.99852T>C (p.Ser33284=)
c.80937T>C (p.Ser26979=)
c.80736T>C (p.Ser26912=)
c.80361T>C (p.Ser26787=)
c.107556T>C (p.Ser35852=)
c.102633T>C (p.Ser34211=)
n.446+3934A>G
n.219+3934A>G
c.106653T>C (p.Ser35551=)
c.80547T>C (p.Ser26849=)
c.80406T>C (p.Ser26802=)
c.106449T>C (p.Ser35483=)
c.101847T>C (p.Ser33949=)
c.101844T>C (p.Ser33948=)
c.98886T>C (p.Ser32962=)
c.80502T>C (p.Ser26834=)
c.101997T>C (p.Ser33999=)
c.101994T>C (p.Ser33998=)
c.101427T>C (p.Ser33809=)
c.98769T>C (p.Ser32923=)
c.98688T>C (p.Ser32896=)
c.80451T>C (p.Ser26817=)
c.70305T>C (p.Ser23435=)
2g.178527570A>TCA430234383TTN,TTN-AS1c.99852T>A (p.Ser33284=)
c.80937T>A (p.Ser26979=)
c.80736T>A (p.Ser26912=)
c.80361T>A (p.Ser26787=)
c.107556T>A (p.Ser35852=)
c.102633T>A (p.Ser34211=)
n.446+3934A>T
n.219+3934A>T
c.106653T>A (p.Ser35551=)
c.80547T>A (p.Ser26849=)
c.80406T>A (p.Ser26802=)
c.106449T>A (p.Ser35483=)
c.101847T>A (p.Ser33949=)
c.101844T>A (p.Ser33948=)
c.98886T>A (p.Ser32962=)
c.80502T>A (p.Ser26834=)
c.101997T>A (p.Ser33999=)
c.101994T>A (p.Ser33998=)
c.101427T>A (p.Ser33809=)
c.98769T>A (p.Ser32923=)
c.98688T>A (p.Ser32896=)
c.80451T>A (p.Ser26817=)
c.70305T>A (p.Ser23435=)
 dbSNP gnomAD v2 gnomAD v4
2g.178527571G>ACA349400107TTN,TTN-AS1c.99851C>T (p.Ser33284Phe)
c.80936C>T (p.Ser26979Phe)
c.80735C>T (p.Ser26912Phe)
c.80360C>T (p.Ser26787Phe)
c.107555C>T (p.Ser35852Phe)
c.102632C>T (p.Ser34211Phe)
n.446+3935G>A
n.219+3935G>A
c.106652C>T (p.Ser35551Phe)
c.80546C>T (p.Ser26849Phe)
c.80405C>T (p.Ser26802Phe)
c.106448C>T (p.Ser35483Phe)
c.101846C>T (p.Ser33949Phe)
c.101843C>T (p.Ser33948Phe)
c.98885C>T (p.Ser32962Phe)
c.80501C>T (p.Ser26834Phe)
c.101996C>T (p.Ser33999Phe)
c.101993C>T (p.Ser33998Phe)
c.101426C>T (p.Ser33809Phe)
c.98768C>T (p.Ser32923Phe)
c.98687C>T (p.Ser32896Phe)
c.80450C>T (p.Ser26817Phe)
c.70304C>T (p.Ser23435Phe)
2g.178527571G>CCA349400109TTN,TTN-AS1c.99851C>G (p.Ser33284Cys)
c.80936C>G (p.Ser26979Cys)
c.80735C>G (p.Ser26912Cys)
c.80360C>G (p.Ser26787Cys)
c.107555C>G (p.Ser35852Cys)
c.102632C>G (p.Ser34211Cys)
n.446+3935G>C
n.219+3935G>C
c.106652C>G (p.Ser35551Cys)
c.80546C>G (p.Ser26849Cys)
c.80405C>G (p.Ser26802Cys)
c.106448C>G (p.Ser35483Cys)
c.101846C>G (p.Ser33949Cys)
c.101843C>G (p.Ser33948Cys)
c.98885C>G (p.Ser32962Cys)
c.80501C>G (p.Ser26834Cys)
c.101996C>G (p.Ser33999Cys)
c.101993C>G (p.Ser33998Cys)
c.101426C>G (p.Ser33809Cys)
c.98768C>G (p.Ser32923Cys)
c.98687C>G (p.Ser32896Cys)
c.80450C>G (p.Ser26817Cys)
c.70304C>G (p.Ser23435Cys)
2g.178527571G>TCA349400108TTN,TTN-AS1c.99851C>A (p.Ser33284Tyr)
c.80936C>A (p.Ser26979Tyr)
c.80735C>A (p.Ser26912Tyr)
c.80360C>A (p.Ser26787Tyr)
c.107555C>A (p.Ser35852Tyr)
c.102632C>A (p.Ser34211Tyr)
n.446+3935G>T
n.219+3935G>T
c.106652C>A (p.Ser35551Tyr)
c.80546C>A (p.Ser26849Tyr)
c.80405C>A (p.Ser26802Tyr)
c.106448C>A (p.Ser35483Tyr)
c.101846C>A (p.Ser33949Tyr)
c.101843C>A (p.Ser33948Tyr)
c.98885C>A (p.Ser32962Tyr)
c.80501C>A (p.Ser26834Tyr)
c.101996C>A (p.Ser33999Tyr)
c.101993C>A (p.Ser33998Tyr)
c.101426C>A (p.Ser33809Tyr)
c.98768C>A (p.Ser32923Tyr)
c.98687C>A (p.Ser32896Tyr)
c.80450C>A (p.Ser26817Tyr)
c.70304C>A (p.Ser23435Tyr)
2g.178527572A>CCA349400110TTN,TTN-AS1c.99850T>G (p.Ser33284Ala)
c.80935T>G (p.Ser26979Ala)
c.80734T>G (p.Ser26912Ala)
c.80359T>G (p.Ser26787Ala)
c.107554T>G (p.Ser35852Ala)
c.102631T>G (p.Ser34211Ala)
n.446+3936A>C
n.219+3936A>C
c.106651T>G (p.Ser35551Ala)
c.80545T>G (p.Ser26849Ala)
c.80404T>G (p.Ser26802Ala)
c.106447T>G (p.Ser35483Ala)
c.101845T>G (p.Ser33949Ala)
c.101842T>G (p.Ser33948Ala)
c.98884T>G (p.Ser32962Ala)
c.80500T>G (p.Ser26834Ala)
c.101995T>G (p.Ser33999Ala)
c.101992T>G (p.Ser33998Ala)
c.101425T>G (p.Ser33809Ala)
c.98767T>G (p.Ser32923Ala)
c.98686T>G (p.Ser32896Ala)
c.80449T>G (p.Ser26817Ala)
c.70303T>G (p.Ser23435Ala)
2g.178527572A>GCA349400111TTN,TTN-AS1c.99850T>C (p.Ser33284Pro)
c.80935T>C (p.Ser26979Pro)
c.80734T>C (p.Ser26912Pro)
c.80359T>C (p.Ser26787Pro)
c.107554T>C (p.Ser35852Pro)
c.102631T>C (p.Ser34211Pro)
n.446+3936A>G
n.219+3936A>G
c.106651T>C (p.Ser35551Pro)
c.80545T>C (p.Ser26849Pro)
c.80404T>C (p.Ser26802Pro)
c.106447T>C (p.Ser35483Pro)
c.101845T>C (p.Ser33949Pro)
c.101842T>C (p.Ser33948Pro)
c.98884T>C (p.Ser32962Pro)
c.80500T>C (p.Ser26834Pro)
c.101995T>C (p.Ser33999Pro)
c.101992T>C (p.Ser33998Pro)
c.101425T>C (p.Ser33809Pro)
c.98767T>C (p.Ser32923Pro)
c.98686T>C (p.Ser32896Pro)
c.80449T>C (p.Ser26817Pro)
c.70303T>C (p.Ser23435Pro)
2g.178527572A>TCA349400112TTN,TTN-AS1c.99850T>A (p.Ser33284Thr)
c.80935T>A (p.Ser26979Thr)
c.80734T>A (p.Ser26912Thr)
c.80359T>A (p.Ser26787Thr)
c.107554T>A (p.Ser35852Thr)
c.102631T>A (p.Ser34211Thr)
n.446+3936A>T
n.219+3936A>T
c.106651T>A (p.Ser35551Thr)
c.80545T>A (p.Ser26849Thr)
c.80404T>A (p.Ser26802Thr)
c.106447T>A (p.Ser35483Thr)
c.101845T>A (p.Ser33949Thr)
c.101842T>A (p.Ser33948Thr)
c.98884T>A (p.Ser32962Thr)
c.80500T>A (p.Ser26834Thr)
c.101995T>A (p.Ser33999Thr)
c.101992T>A (p.Ser33998Thr)
c.101425T>A (p.Ser33809Thr)
c.98767T>A (p.Ser32923Thr)
c.98686T>A (p.Ser32896Thr)
c.80449T>A (p.Ser26817Thr)
c.70303T>A (p.Ser23435Thr)
2g.178527573C>ACA349400113TTN,TTN-AS1c.99849G>T (p.Met33283Ile)
c.80934G>T (p.Met26978Ile)
c.80733G>T (p.Met26911Ile)
c.80358G>T (p.Met26786Ile)
c.107553G>T (p.Met35851Ile)
c.102630G>T (p.Met34210Ile)
n.446+3937C>A
n.219+3937C>A
c.106650G>T (p.Met35550Ile)
c.80544G>T (p.Met26848Ile)
c.80403G>T (p.Met26801Ile)
c.106446G>T (p.Met35482Ile)
c.101844G>T (p.Met33948Ile)
c.101841G>T (p.Met33947Ile)
c.98883G>T (p.Met32961Ile)
c.80499G>T (p.Met26833Ile)
c.101994G>T (p.Met33998Ile)
c.101991G>T (p.Met33997Ile)
c.101424G>T (p.Met33808Ile)
c.98766G>T (p.Met32922Ile)
c.98685G>T (p.Met32895Ile)
c.80448G>T (p.Met26816Ile)
c.70302G>T (p.Met23434Ile)
 gnomAD v4
2g.178527573C>GCA349400114TTN,TTN-AS1c.99849G>C (p.Met33283Ile)
c.80934G>C (p.Met26978Ile)
c.80733G>C (p.Met26911Ile)
c.80358G>C (p.Met26786Ile)
c.107553G>C (p.Met35851Ile)
c.102630G>C (p.Met34210Ile)
n.446+3937C>G
n.219+3937C>G
c.106650G>C (p.Met35550Ile)
c.80544G>C (p.Met26848Ile)
c.80403G>C (p.Met26801Ile)
c.106446G>C (p.Met35482Ile)
c.101844G>C (p.Met33948Ile)
c.101841G>C (p.Met33947Ile)
c.98883G>C (p.Met32961Ile)
c.80499G>C (p.Met26833Ile)
c.101994G>C (p.Met33998Ile)
c.101991G>C (p.Met33997Ile)
c.101424G>C (p.Met33808Ile)
c.98766G>C (p.Met32922Ile)
c.98685G>C (p.Met32895Ile)
c.80448G>C (p.Met26816Ile)
c.70302G>C (p.Met23434Ile)
2g.178527573C>TCA349400115TTN,TTN-AS1c.99849G>A (p.Met33283Ile)
c.80934G>A (p.Met26978Ile)
c.80733G>A (p.Met26911Ile)
c.80358G>A (p.Met26786Ile)
c.107553G>A (p.Met35851Ile)
c.102630G>A (p.Met34210Ile)
n.446+3937C>T
n.219+3937C>T
c.106650G>A (p.Met35550Ile)
c.80544G>A (p.Met26848Ile)
c.80403G>A (p.Met26801Ile)
c.106446G>A (p.Met35482Ile)
c.101844G>A (p.Met33948Ile)
c.101841G>A (p.Met33947Ile)
c.98883G>A (p.Met32961Ile)
c.80499G>A (p.Met26833Ile)
c.101994G>A (p.Met33998Ile)
c.101991G>A (p.Met33997Ile)
c.101424G>A (p.Met33808Ile)
c.98766G>A (p.Met32922Ile)
c.98685G>A (p.Met32895Ile)
c.80448G>A (p.Met26816Ile)
c.70302G>A (p.Met23434Ile)
 gnomAD v4
2g.178527574A=CA1310508249TTN,TTN-AS1c.99848T= (p.Met33283=)
c.80933T= (p.Met26978=)
c.80732T= (p.Met26911=)
c.80357T= (p.Met26786=)
c.107552T= (p.Met35851=)
c.102629T= (p.Met34210=)
n.446+3938A=
n.219+3938A=
c.106649T= (p.Met35550=)
c.80543T= (p.Met26848=)
c.80402T= (p.Met26801=)
c.106445T= (p.Met35482=)
c.101843T= (p.Met33948=)
c.101840T= (p.Met33947=)
c.98882T= (p.Met32961=)
c.80498T= (p.Met26833=)
c.101993T= (p.Met33998=)
c.101990T= (p.Met33997=)
c.101423T= (p.Met33808=)
c.98765T= (p.Met32922=)
c.98684T= (p.Met32895=)
c.80447T= (p.Met26816=)
c.70301T= (p.Met23434=)
2g.178527574A>CCA349400116TTN,TTN-AS1c.99848T>G (p.Met33283Arg)
c.80933T>G (p.Met26978Arg)
c.80732T>G (p.Met26911Arg)
c.80357T>G (p.Met26786Arg)
c.107552T>G (p.Met35851Arg)
c.102629T>G (p.Met34210Arg)
n.446+3938A>C
n.219+3938A>C
c.106649T>G (p.Met35550Arg)
c.80543T>G (p.Met26848Arg)
c.80402T>G (p.Met26801Arg)
c.106445T>G (p.Met35482Arg)
c.101843T>G (p.Met33948Arg)
c.101840T>G (p.Met33947Arg)
c.98882T>G (p.Met32961Arg)
c.80498T>G (p.Met26833Arg)
c.101993T>G (p.Met33998Arg)
c.101990T>G (p.Met33997Arg)
c.101423T>G (p.Met33808Arg)
c.98765T>G (p.Met32922Arg)
c.98684T>G (p.Met32895Arg)
c.80447T>G (p.Met26816Arg)
c.70301T>G (p.Met23434Arg)
2g.178527574A>GCA349400117TTN,TTN-AS1c.99848T>C (p.Met33283Thr)
c.80933T>C (p.Met26978Thr)
c.80732T>C (p.Met26911Thr)
c.80357T>C (p.Met26786Thr)
c.107552T>C (p.Met35851Thr)
c.102629T>C (p.Met34210Thr)
n.446+3938A>G
n.219+3938A>G
c.106649T>C (p.Met35550Thr)
c.80543T>C (p.Met26848Thr)
c.80402T>C (p.Met26801Thr)
c.106445T>C (p.Met35482Thr)
c.101843T>C (p.Met33948Thr)
c.101840T>C (p.Met33947Thr)
c.98882T>C (p.Met32961Thr)
c.80498T>C (p.Met26833Thr)
c.101993T>C (p.Met33998Thr)
c.101990T>C (p.Met33997Thr)
c.101423T>C (p.Met33808Thr)
c.98765T>C (p.Met32922Thr)
c.98684T>C (p.Met32895Thr)
c.80447T>C (p.Met26816Thr)
c.70301T>C (p.Met23434Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527574A>TCA349400118TTN,TTN-AS1c.99848T>A (p.Met33283Lys)
c.80933T>A (p.Met26978Lys)
c.80732T>A (p.Met26911Lys)
c.80357T>A (p.Met26786Lys)
c.107552T>A (p.Met35851Lys)
c.102629T>A (p.Met34210Lys)
n.446+3938A>T
n.219+3938A>T
c.106649T>A (p.Met35550Lys)
c.80543T>A (p.Met26848Lys)
c.80402T>A (p.Met26801Lys)
c.106445T>A (p.Met35482Lys)
c.101843T>A (p.Met33948Lys)
c.101840T>A (p.Met33947Lys)
c.98882T>A (p.Met32961Lys)
c.80498T>A (p.Met26833Lys)
c.101993T>A (p.Met33998Lys)
c.101990T>A (p.Met33997Lys)
c.101423T>A (p.Met33808Lys)
c.98765T>A (p.Met32922Lys)
c.98684T>A (p.Met32895Lys)
c.80447T>A (p.Met26816Lys)
c.70301T>A (p.Met23434Lys)
 ClinVar gnomAD v4
2g.178527575T>ACA349400119TTN,TTN-AS1c.99847A>T (p.Met33283Leu)
c.80932A>T (p.Met26978Leu)
c.80731A>T (p.Met26911Leu)
c.80356A>T (p.Met26786Leu)
c.107551A>T (p.Met35851Leu)
c.102628A>T (p.Met34210Leu)
n.446+3939T>A
n.219+3939T>A
c.106648A>T (p.Met35550Leu)
c.80542A>T (p.Met26848Leu)
c.80401A>T (p.Met26801Leu)
c.106444A>T (p.Met35482Leu)
c.101842A>T (p.Met33948Leu)
c.101839A>T (p.Met33947Leu)
c.98881A>T (p.Met32961Leu)
c.80497A>T (p.Met26833Leu)
c.101992A>T (p.Met33998Leu)
c.101989A>T (p.Met33997Leu)
c.101422A>T (p.Met33808Leu)
c.98764A>T (p.Met32922Leu)
c.98683A>T (p.Met32895Leu)
c.80446A>T (p.Met26816Leu)
c.70300A>T (p.Met23434Leu)
2g.178527575T>CCA349400120TTN,TTN-AS1c.99847A>G (p.Met33283Val)
c.80932A>G (p.Met26978Val)
c.80731A>G (p.Met26911Val)
c.80356A>G (p.Met26786Val)
c.107551A>G (p.Met35851Val)
c.102628A>G (p.Met34210Val)
n.446+3939T>C
n.219+3939T>C
c.106648A>G (p.Met35550Val)
c.80542A>G (p.Met26848Val)
c.80401A>G (p.Met26801Val)
c.106444A>G (p.Met35482Val)
c.101842A>G (p.Met33948Val)
c.101839A>G (p.Met33947Val)
c.98881A>G (p.Met32961Val)
c.80497A>G (p.Met26833Val)
c.101992A>G (p.Met33998Val)
c.101989A>G (p.Met33997Val)
c.101422A>G (p.Met33808Val)
c.98764A>G (p.Met32922Val)
c.98683A>G (p.Met32895Val)
c.80446A>G (p.Met26816Val)
c.70300A>G (p.Met23434Val)
2g.178527575T>GCA349400121TTN,TTN-AS1c.99847A>C (p.Met33283Leu)
c.80932A>C (p.Met26978Leu)
c.80731A>C (p.Met26911Leu)
c.80356A>C (p.Met26786Leu)
c.107551A>C (p.Met35851Leu)
c.102628A>C (p.Met34210Leu)
n.446+3939T>G
n.219+3939T>G
c.106648A>C (p.Met35550Leu)
c.80542A>C (p.Met26848Leu)
c.80401A>C (p.Met26801Leu)
c.106444A>C (p.Met35482Leu)
c.101842A>C (p.Met33948Leu)
c.101839A>C (p.Met33947Leu)
c.98881A>C (p.Met32961Leu)
c.80497A>C (p.Met26833Leu)
c.101992A>C (p.Met33998Leu)
c.101989A>C (p.Met33997Leu)
c.101422A>C (p.Met33808Leu)
c.98764A>C (p.Met32922Leu)
c.98683A>C (p.Met32895Leu)
c.80446A>C (p.Met26816Leu)
c.70300A>C (p.Met23434Leu)
2g.178527576G>ACA430234393TTN,TTN-AS1c.99846C>T (p.Ser33282=)
c.80931C>T (p.Ser26977=)
c.80730C>T (p.Ser26910=)
c.80355C>T (p.Ser26785=)
c.107550C>T (p.Ser35850=)
c.102627C>T (p.Ser34209=)
n.446+3940G>A
n.219+3940G>A
c.106647C>T (p.Ser35549=)
c.80541C>T (p.Ser26847=)
c.80400C>T (p.Ser26800=)
c.106443C>T (p.Ser35481=)
c.101841C>T (p.Ser33947=)
c.101838C>T (p.Ser33946=)
c.98880C>T (p.Ser32960=)
c.80496C>T (p.Ser26832=)
c.101991C>T (p.Ser33997=)
c.101988C>T (p.Ser33996=)
c.101421C>T (p.Ser33807=)
c.98763C>T (p.Ser32921=)
c.98682C>T (p.Ser32894=)
c.80445C>T (p.Ser26815=)
c.70299C>T (p.Ser23433=)
2g.178527576G>CCA349400123TTN,TTN-AS1c.99846C>G (p.Ser33282Arg)
c.80931C>G (p.Ser26977Arg)
c.80730C>G (p.Ser26910Arg)
c.80355C>G (p.Ser26785Arg)
c.107550C>G (p.Ser35850Arg)
c.102627C>G (p.Ser34209Arg)
n.446+3940G>C
n.219+3940G>C
c.106647C>G (p.Ser35549Arg)
c.80541C>G (p.Ser26847Arg)
c.80400C>G (p.Ser26800Arg)
c.106443C>G (p.Ser35481Arg)
c.101841C>G (p.Ser33947Arg)
c.101838C>G (p.Ser33946Arg)
c.98880C>G (p.Ser32960Arg)
c.80496C>G (p.Ser26832Arg)
c.101991C>G (p.Ser33997Arg)
c.101988C>G (p.Ser33996Arg)
c.101421C>G (p.Ser33807Arg)
c.98763C>G (p.Ser32921Arg)
c.98682C>G (p.Ser32894Arg)
c.80445C>G (p.Ser26815Arg)
c.70299C>G (p.Ser23433Arg)
2g.178527576G>TCA349400122TTN,TTN-AS1c.99846C>A (p.Ser33282Arg)
c.80931C>A (p.Ser26977Arg)
c.80730C>A (p.Ser26910Arg)
c.80355C>A (p.Ser26785Arg)
c.107550C>A (p.Ser35850Arg)
c.102627C>A (p.Ser34209Arg)
n.446+3940G>T
n.219+3940G>T
c.106647C>A (p.Ser35549Arg)
c.80541C>A (p.Ser26847Arg)
c.80400C>A (p.Ser26800Arg)
c.106443C>A (p.Ser35481Arg)
c.101841C>A (p.Ser33947Arg)
c.101838C>A (p.Ser33946Arg)
c.98880C>A (p.Ser32960Arg)
c.80496C>A (p.Ser26832Arg)
c.101991C>A (p.Ser33997Arg)
c.101988C>A (p.Ser33996Arg)
c.101421C>A (p.Ser33807Arg)
c.98763C>A (p.Ser32921Arg)
c.98682C>A (p.Ser32894Arg)
c.80445C>A (p.Ser26815Arg)
c.70299C>A (p.Ser23433Arg)
2g.178527577C>ACA349400124TTN,TTN-AS1c.99845G>T (p.Ser33282Ile)
c.80930G>T (p.Ser26977Ile)
c.80729G>T (p.Ser26910Ile)
c.80354G>T (p.Ser26785Ile)
c.107549G>T (p.Ser35850Ile)
c.102626G>T (p.Ser34209Ile)
n.446+3941C>A
n.219+3941C>A
c.106646G>T (p.Ser35549Ile)
c.80540G>T (p.Ser26847Ile)
c.80399G>T (p.Ser26800Ile)
c.106442G>T (p.Ser35481Ile)
c.101840G>T (p.Ser33947Ile)
c.101837G>T (p.Ser33946Ile)
c.98879G>T (p.Ser32960Ile)
c.80495G>T (p.Ser26832Ile)
c.101990G>T (p.Ser33997Ile)
c.101987G>T (p.Ser33996Ile)
c.101420G>T (p.Ser33807Ile)
c.98762G>T (p.Ser32921Ile)
c.98681G>T (p.Ser32894Ile)
c.80444G>T (p.Ser26815Ile)
c.70298G>T (p.Ser23433Ile)
2g.178527577C>GCA349400125TTN,TTN-AS1c.99845G>C (p.Ser33282Thr)
c.80930G>C (p.Ser26977Thr)
c.80729G>C (p.Ser26910Thr)
c.80354G>C (p.Ser26785Thr)
c.107549G>C (p.Ser35850Thr)
c.102626G>C (p.Ser34209Thr)
n.446+3941C>G
n.219+3941C>G
c.106646G>C (p.Ser35549Thr)
c.80540G>C (p.Ser26847Thr)
c.80399G>C (p.Ser26800Thr)
c.106442G>C (p.Ser35481Thr)
c.101840G>C (p.Ser33947Thr)
c.101837G>C (p.Ser33946Thr)
c.98879G>C (p.Ser32960Thr)
c.80495G>C (p.Ser26832Thr)
c.101990G>C (p.Ser33997Thr)
c.101987G>C (p.Ser33996Thr)
c.101420G>C (p.Ser33807Thr)
c.98762G>C (p.Ser32921Thr)
c.98681G>C (p.Ser32894Thr)
c.80444G>C (p.Ser26815Thr)
c.70298G>C (p.Ser23433Thr)
2g.178527577C>TCA349400126TTN,TTN-AS1c.99845G>A (p.Ser33282Asn)
c.80930G>A (p.Ser26977Asn)
c.80729G>A (p.Ser26910Asn)
c.80354G>A (p.Ser26785Asn)
c.107549G>A (p.Ser35850Asn)
c.102626G>A (p.Ser34209Asn)
n.446+3941C>T
n.219+3941C>T
c.106646G>A (p.Ser35549Asn)
c.80540G>A (p.Ser26847Asn)
c.80399G>A (p.Ser26800Asn)
c.106442G>A (p.Ser35481Asn)
c.101840G>A (p.Ser33947Asn)
c.101837G>A (p.Ser33946Asn)
c.98879G>A (p.Ser32960Asn)
c.80495G>A (p.Ser26832Asn)
c.101990G>A (p.Ser33997Asn)
c.101987G>A (p.Ser33996Asn)
c.101420G>A (p.Ser33807Asn)
c.98762G>A (p.Ser32921Asn)
c.98681G>A (p.Ser32894Asn)
c.80444G>A (p.Ser26815Asn)
c.70298G>A (p.Ser23433Asn)
2g.178527578T>ACA349400127TTN,TTN-AS1c.99844A>T (p.Ser33282Cys)
c.80929A>T (p.Ser26977Cys)
c.80728A>T (p.Ser26910Cys)
c.80353A>T (p.Ser26785Cys)
c.107548A>T (p.Ser35850Cys)
c.102625A>T (p.Ser34209Cys)
n.446+3942T>A
n.219+3942T>A
c.106645A>T (p.Ser35549Cys)
c.80539A>T (p.Ser26847Cys)
c.80398A>T (p.Ser26800Cys)
c.106441A>T (p.Ser35481Cys)
c.101839A>T (p.Ser33947Cys)
c.101836A>T (p.Ser33946Cys)
c.98878A>T (p.Ser32960Cys)
c.80494A>T (p.Ser26832Cys)
c.101989A>T (p.Ser33997Cys)
c.101986A>T (p.Ser33996Cys)
c.101419A>T (p.Ser33807Cys)
c.98761A>T (p.Ser32921Cys)
c.98680A>T (p.Ser32894Cys)
c.80443A>T (p.Ser26815Cys)
c.70297A>T (p.Ser23433Cys)
2g.178527578T>CCA349400128TTN,TTN-AS1c.99844A>G (p.Ser33282Gly)
c.80929A>G (p.Ser26977Gly)
c.80728A>G (p.Ser26910Gly)
c.80353A>G (p.Ser26785Gly)
c.107548A>G (p.Ser35850Gly)
c.102625A>G (p.Ser34209Gly)
n.446+3942T>C
n.219+3942T>C
c.106645A>G (p.Ser35549Gly)
c.80539A>G (p.Ser26847Gly)
c.80398A>G (p.Ser26800Gly)
c.106441A>G (p.Ser35481Gly)
c.101839A>G (p.Ser33947Gly)
c.101836A>G (p.Ser33946Gly)
c.98878A>G (p.Ser32960Gly)
c.80494A>G (p.Ser26832Gly)
c.101989A>G (p.Ser33997Gly)
c.101986A>G (p.Ser33996Gly)
c.101419A>G (p.Ser33807Gly)
c.98761A>G (p.Ser32921Gly)
c.98680A>G (p.Ser32894Gly)
c.80443A>G (p.Ser26815Gly)
c.70297A>G (p.Ser23433Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178527578T>GCA349400129TTN,TTN-AS1c.99844A>C (p.Ser33282Arg)
c.80929A>C (p.Ser26977Arg)
c.80728A>C (p.Ser26910Arg)
c.80353A>C (p.Ser26785Arg)
c.107548A>C (p.Ser35850Arg)
c.102625A>C (p.Ser34209Arg)
n.446+3942T>G
n.219+3942T>G
c.106645A>C (p.Ser35549Arg)
c.80539A>C (p.Ser26847Arg)
c.80398A>C (p.Ser26800Arg)
c.106441A>C (p.Ser35481Arg)
c.101839A>C (p.Ser33947Arg)
c.101836A>C (p.Ser33946Arg)
c.98878A>C (p.Ser32960Arg)
c.80494A>C (p.Ser26832Arg)
c.101989A>C (p.Ser33997Arg)
c.101986A>C (p.Ser33996Arg)
c.101419A>C (p.Ser33807Arg)
c.98761A>C (p.Ser32921Arg)
c.98680A>C (p.Ser32894Arg)
c.80443A>C (p.Ser26815Arg)
c.70297A>C (p.Ser23433Arg)
2g.178527578T=CA1310508252TTN,TTN-AS1c.99844A= (p.Ser33282=)
c.80929A= (p.Ser26977=)
c.80728A= (p.Ser26910=)
c.80353A= (p.Ser26785=)
c.107548A= (p.Ser35850=)
c.102625A= (p.Ser34209=)
n.446+3942T=
n.219+3942T=
c.106645A= (p.Ser35549=)
c.80539A= (p.Ser26847=)
c.80398A= (p.Ser26800=)
c.106441A= (p.Ser35481=)
c.101839A= (p.Ser33947=)
c.101836A= (p.Ser33946=)
c.98878A= (p.Ser32960=)
c.80494A= (p.Ser26832=)
c.101989A= (p.Ser33997=)
c.101986A= (p.Ser33996=)
c.101419A= (p.Ser33807=)
c.98761A= (p.Ser32921=)
c.98680A= (p.Ser32894=)
c.80443A= (p.Ser26815=)
c.70297A= (p.Ser23433=)
2g.178527579T>ACA430234401TTN,TTN-AS1c.99843A>T (p.Ala33281=)
c.80928A>T (p.Ala26976=)
c.80727A>T (p.Ala26909=)
c.80352A>T (p.Ala26784=)
c.107547A>T (p.Ala35849=)
c.102624A>T (p.Ala34208=)
n.446+3943T>A
n.219+3943T>A
c.106644A>T (p.Ala35548=)
c.80538A>T (p.Ala26846=)
c.80397A>T (p.Ala26799=)
c.106440A>T (p.Ala35480=)
c.101838A>T (p.Ala33946=)
c.101835A>T (p.Ala33945=)
c.98877A>T (p.Ala32959=)
c.80493A>T (p.Ala26831=)
c.101988A>T (p.Ala33996=)
c.101985A>T (p.Ala33995=)
c.101418A>T (p.Ala33806=)
c.98760A>T (p.Ala32920=)
c.98679A>T (p.Ala32893=)
c.80442A>T (p.Ala26814=)
c.70296A>T (p.Ala23432=)
 ClinVar dbSNP gnomAD v2
2g.178527579T>CCA430234402TTN,TTN-AS1c.99843A>G (p.Ala33281=)
c.80928A>G (p.Ala26976=)
c.80727A>G (p.Ala26909=)
c.80352A>G (p.Ala26784=)
c.107547A>G (p.Ala35849=)
c.102624A>G (p.Ala34208=)
n.446+3943T>C
n.219+3943T>C
c.106644A>G (p.Ala35548=)
c.80538A>G (p.Ala26846=)
c.80397A>G (p.Ala26799=)
c.106440A>G (p.Ala35480=)
c.101838A>G (p.Ala33946=)
c.101835A>G (p.Ala33945=)
c.98877A>G (p.Ala32959=)
c.80493A>G (p.Ala26831=)
c.101988A>G (p.Ala33996=)
c.101985A>G (p.Ala33995=)
c.101418A>G (p.Ala33806=)
c.98760A>G (p.Ala32920=)
c.98679A>G (p.Ala32893=)
c.80442A>G (p.Ala26814=)
c.70296A>G (p.Ala23432=)
 dbSNP COSMIC COSMIC COSMIC
2g.178527579T>GCA430234403TTN,TTN-AS1c.99843A>C (p.Ala33281=)
c.80928A>C (p.Ala26976=)
c.80727A>C (p.Ala26909=)
c.80352A>C (p.Ala26784=)
c.107547A>C (p.Ala35849=)
c.102624A>C (p.Ala34208=)
n.446+3943T>G
n.219+3943T>G
c.106644A>C (p.Ala35548=)
c.80538A>C (p.Ala26846=)
c.80397A>C (p.Ala26799=)
c.106440A>C (p.Ala35480=)
c.101838A>C (p.Ala33946=)
c.101835A>C (p.Ala33945=)
c.98877A>C (p.Ala32959=)
c.80493A>C (p.Ala26831=)
c.101988A>C (p.Ala33996=)
c.101985A>C (p.Ala33995=)
c.101418A>C (p.Ala33806=)
c.98760A>C (p.Ala32920=)
c.98679A>C (p.Ala32893=)
c.80442A>C (p.Ala26814=)
c.70296A>C (p.Ala23432=)
2g.178527579T=CA1310508255TTN,TTN-AS1c.99843A= (p.Ala33281=)
c.80928A= (p.Ala26976=)
c.80727A= (p.Ala26909=)
c.80352A= (p.Ala26784=)
c.107547A= (p.Ala35849=)
c.102624A= (p.Ala34208=)
n.446+3943T=
n.219+3943T=
c.106644A= (p.Ala35548=)
c.80538A= (p.Ala26846=)
c.80397A= (p.Ala26799=)
c.106440A= (p.Ala35480=)
c.101838A= (p.Ala33946=)
c.101835A= (p.Ala33945=)
c.98877A= (p.Ala32959=)
c.80493A= (p.Ala26831=)
c.101988A= (p.Ala33996=)
c.101985A= (p.Ala33995=)
c.101418A= (p.Ala33806=)
c.98760A= (p.Ala32920=)
c.98679A= (p.Ala32893=)
c.80442A= (p.Ala26814=)
c.70296A= (p.Ala23432=)
2g.178527580G>ACA349400130TTN,TTN-AS1c.99842C>T (p.Ala33281Val)
c.80927C>T (p.Ala26976Val)
c.80726C>T (p.Ala26909Val)
c.80351C>T (p.Ala26784Val)
c.107546C>T (p.Ala35849Val)
c.102623C>T (p.Ala34208Val)
n.446+3944G>A
n.219+3944G>A
c.106643C>T (p.Ala35548Val)
c.80537C>T (p.Ala26846Val)
c.80396C>T (p.Ala26799Val)
c.106439C>T (p.Ala35480Val)
c.101837C>T (p.Ala33946Val)
c.101834C>T (p.Ala33945Val)
c.98876C>T (p.Ala32959Val)
c.80492C>T (p.Ala26831Val)
c.101987C>T (p.Ala33996Val)
c.101984C>T (p.Ala33995Val)
c.101417C>T (p.Ala33806Val)
c.98759C>T (p.Ala32920Val)
c.98678C>T (p.Ala32893Val)
c.80441C>T (p.Ala26814Val)
c.70295C>T (p.Ala23432Val)
2g.178527580G>CCA349400131TTN,TTN-AS1c.99842C>G (p.Ala33281Gly)
c.80927C>G (p.Ala26976Gly)
c.80726C>G (p.Ala26909Gly)
c.80351C>G (p.Ala26784Gly)
c.107546C>G (p.Ala35849Gly)
c.102623C>G (p.Ala34208Gly)
n.446+3944G>C
n.219+3944G>C
c.106643C>G (p.Ala35548Gly)
c.80537C>G (p.Ala26846Gly)
c.80396C>G (p.Ala26799Gly)
c.106439C>G (p.Ala35480Gly)
c.101837C>G (p.Ala33946Gly)
c.101834C>G (p.Ala33945Gly)
c.98876C>G (p.Ala32959Gly)
c.80492C>G (p.Ala26831Gly)
c.101987C>G (p.Ala33996Gly)
c.101984C>G (p.Ala33995Gly)
c.101417C>G (p.Ala33806Gly)
c.98759C>G (p.Ala32920Gly)
c.98678C>G (p.Ala32893Gly)
c.80441C>G (p.Ala26814Gly)
c.70295C>G (p.Ala23432Gly)
2g.178527580G>TCA349400132TTN,TTN-AS1c.99842C>A (p.Ala33281Glu)
c.80927C>A (p.Ala26976Glu)
c.80726C>A (p.Ala26909Glu)
c.80351C>A (p.Ala26784Glu)
c.107546C>A (p.Ala35849Glu)
c.102623C>A (p.Ala34208Glu)
n.446+3944G>T
n.219+3944G>T
c.106643C>A (p.Ala35548Glu)
c.80537C>A (p.Ala26846Glu)
c.80396C>A (p.Ala26799Glu)
c.106439C>A (p.Ala35480Glu)
c.101837C>A (p.Ala33946Glu)
c.101834C>A (p.Ala33945Glu)
c.98876C>A (p.Ala32959Glu)
c.80492C>A (p.Ala26831Glu)
c.101987C>A (p.Ala33996Glu)
c.101984C>A (p.Ala33995Glu)
c.101417C>A (p.Ala33806Glu)
c.98759C>A (p.Ala32920Glu)
c.98678C>A (p.Ala32893Glu)
c.80441C>A (p.Ala26814Glu)
c.70295C>A (p.Ala23432Glu)
2g.178527580_178527583delCA2662122387TTN,TTN-AS1c.99839_99842del (p.Phe33280Ter)
c.80924_80927del (p.Phe26975Ter)
c.80723_80726del (p.Phe26908Ter)
c.80348_80351del (p.Phe26783Ter)
c.107543_107546del (p.Phe35848Ter)
c.102620_102623del (p.Phe34207Ter)
n.446+3944_446+3947del
n.219+3944_219+3947del
c.106640_106643del (p.Phe35547Ter)
c.80534_80537del (p.Phe26845Ter)
c.80393_80396del (p.Phe26798Ter)
c.106436_106439del (p.Phe35479Ter)
c.101834_101837del (p.Phe33945Ter)
c.101831_101834del (p.Phe33944Ter)
c.98873_98876del (p.Phe32958Ter)
c.80489_80492del (p.Phe26830Ter)
c.101984_101987del (p.Phe33995Ter)
c.101981_101984del (p.Phe33994Ter)
c.101414_101417del (p.Phe33805Ter)
c.98756_98759del (p.Phe32919Ter)
c.98675_98678del (p.Phe32892Ter)
c.80438_80441del (p.Phe26813Ter)
c.70292_70295del (p.Phe23431Ter)
 gnomAD v4
2g.178527581delCA2586970711TTN,TTN-AS1c.99841del (p.Ala33281GlnfsTer16)
c.80926del (p.Ala26976GlnfsTer16)
c.80725del (p.Ala26909GlnfsTer16)
c.80350del (p.Ala26784GlnfsTer16)
c.107545del (p.Ala35849GlnfsTer16)
c.102622del (p.Ala34208GlnfsTer16)
n.446+3945del
n.219+3945del
c.106642del (p.Ala35548GlnfsTer16)
c.80536del (p.Ala26846GlnfsTer16)
c.80395del (p.Ala26799GlnfsTer16)
c.106438del (p.Ala35480GlnfsTer16)
c.101836del (p.Ala33946GlnfsTer16)
c.101833del (p.Ala33945GlnfsTer16)
c.98875del (p.Ala32959GlnfsTer16)
c.80491del (p.Ala26831GlnfsTer16)
c.101986del (p.Ala33996GlnfsTer16)
c.101983del (p.Ala33995GlnfsTer16)
c.101416del (p.Ala33806GlnfsTer16)
c.98758del (p.Ala32920GlnfsTer16)
c.98677del (p.Ala32893GlnfsTer16)
c.80440del (p.Ala26814GlnfsTer16)
c.70294del (p.Ala23432GlnfsTer16)
2g.178527581C>ACA349400133TTN,TTN-AS1c.99841G>T (p.Ala33281Ser)
c.80926G>T (p.Ala26976Ser)
c.80725G>T (p.Ala26909Ser)
c.80350G>T (p.Ala26784Ser)
c.107545G>T (p.Ala35849Ser)
c.102622G>T (p.Ala34208Ser)
n.446+3945C>A
n.219+3945C>A
c.106642G>T (p.Ala35548Ser)
c.80536G>T (p.Ala26846Ser)
c.80395G>T (p.Ala26799Ser)
c.106438G>T (p.Ala35480Ser)
c.101836G>T (p.Ala33946Ser)
c.101833G>T (p.Ala33945Ser)
c.98875G>T (p.Ala32959Ser)
c.80491G>T (p.Ala26831Ser)
c.101986G>T (p.Ala33996Ser)
c.101983G>T (p.Ala33995Ser)
c.101416G>T (p.Ala33806Ser)
c.98758G>T (p.Ala32920Ser)
c.98677G>T (p.Ala32893Ser)
c.80440G>T (p.Ala26814Ser)
c.70294G>T (p.Ala23432Ser)
2g.178527581C>GCA349400134TTN,TTN-AS1c.99841G>C (p.Ala33281Pro)
c.80926G>C (p.Ala26976Pro)
c.80725G>C (p.Ala26909Pro)
c.80350G>C (p.Ala26784Pro)
c.107545G>C (p.Ala35849Pro)
c.102622G>C (p.Ala34208Pro)
n.446+3945C>G
n.219+3945C>G
c.106642G>C (p.Ala35548Pro)
c.80536G>C (p.Ala26846Pro)
c.80395G>C (p.Ala26799Pro)
c.106438G>C (p.Ala35480Pro)
c.101836G>C (p.Ala33946Pro)
c.101833G>C (p.Ala33945Pro)
c.98875G>C (p.Ala32959Pro)
c.80491G>C (p.Ala26831Pro)
c.101986G>C (p.Ala33996Pro)
c.101983G>C (p.Ala33995Pro)
c.101416G>C (p.Ala33806Pro)
c.98758G>C (p.Ala32920Pro)
c.98677G>C (p.Ala32893Pro)
c.80440G>C (p.Ala26814Pro)
c.70294G>C (p.Ala23432Pro)
2g.178527581C>TCA349400136TTN,TTN-AS1c.99841G>A (p.Ala33281Thr)
c.80926G>A (p.Ala26976Thr)
c.80725G>A (p.Ala26909Thr)
c.80350G>A (p.Ala26784Thr)
c.107545G>A (p.Ala35849Thr)
c.102622G>A (p.Ala34208Thr)
n.446+3945C>T
n.219+3945C>T
c.106642G>A (p.Ala35548Thr)
c.80536G>A (p.Ala26846Thr)
c.80395G>A (p.Ala26799Thr)
c.106438G>A (p.Ala35480Thr)
c.101836G>A (p.Ala33946Thr)
c.101833G>A (p.Ala33945Thr)
c.98875G>A (p.Ala32959Thr)
c.80491G>A (p.Ala26831Thr)
c.101986G>A (p.Ala33996Thr)
c.101983G>A (p.Ala33995Thr)
c.101416G>A (p.Ala33806Thr)
c.98758G>A (p.Ala32920Thr)
c.98677G>A (p.Ala32893Thr)
c.80440G>A (p.Ala26814Thr)
c.70294G>A (p.Ala23432Thr)
2g.178527582A>CCA349400137TTN,TTN-AS1c.99840T>G (p.Phe33280Leu)
c.80925T>G (p.Phe26975Leu)
c.80724T>G (p.Phe26908Leu)
c.80349T>G (p.Phe26783Leu)
c.107544T>G (p.Phe35848Leu)
c.102621T>G (p.Phe34207Leu)
n.446+3946A>C
n.219+3946A>C
c.106641T>G (p.Phe35547Leu)
c.80535T>G (p.Phe26845Leu)
c.80394T>G (p.Phe26798Leu)
c.106437T>G (p.Phe35479Leu)
c.101835T>G (p.Phe33945Leu)
c.101832T>G (p.Phe33944Leu)
c.98874T>G (p.Phe32958Leu)
c.80490T>G (p.Phe26830Leu)
c.101985T>G (p.Phe33995Leu)
c.101982T>G (p.Phe33994Leu)
c.101415T>G (p.Phe33805Leu)
c.98757T>G (p.Phe32919Leu)
c.98676T>G (p.Phe32892Leu)
c.80439T>G (p.Phe26813Leu)
c.70293T>G (p.Phe23431Leu)
2g.178527582A>GCA430234410TTN,TTN-AS1c.99840T>C (p.Phe33280=)
c.80925T>C (p.Phe26975=)
c.80724T>C (p.Phe26908=)
c.80349T>C (p.Phe26783=)
c.107544T>C (p.Phe35848=)
c.102621T>C (p.Phe34207=)
n.446+3946A>G
n.219+3946A>G
c.106641T>C (p.Phe35547=)
c.80535T>C (p.Phe26845=)
c.80394T>C (p.Phe26798=)
c.106437T>C (p.Phe35479=)
c.101835T>C (p.Phe33945=)
c.101832T>C (p.Phe33944=)
c.98874T>C (p.Phe32958=)
c.80490T>C (p.Phe26830=)
c.101985T>C (p.Phe33995=)
c.101982T>C (p.Phe33994=)
c.101415T>C (p.Phe33805=)
c.98757T>C (p.Phe32919=)
c.98676T>C (p.Phe32892=)
c.80439T>C (p.Phe26813=)
c.70293T>C (p.Phe23431=)
2g.178527582A>TCA349400139TTN,TTN-AS1c.99840T>A (p.Phe33280Leu)
c.80925T>A (p.Phe26975Leu)
c.80724T>A (p.Phe26908Leu)
c.80349T>A (p.Phe26783Leu)
c.107544T>A (p.Phe35848Leu)
c.102621T>A (p.Phe34207Leu)
n.446+3946A>T
n.219+3946A>T
c.106641T>A (p.Phe35547Leu)
c.80535T>A (p.Phe26845Leu)
c.80394T>A (p.Phe26798Leu)
c.106437T>A (p.Phe35479Leu)
c.101835T>A (p.Phe33945Leu)
c.101832T>A (p.Phe33944Leu)
c.98874T>A (p.Phe32958Leu)
c.80490T>A (p.Phe26830Leu)
c.101985T>A (p.Phe33995Leu)
c.101982T>A (p.Phe33994Leu)
c.101415T>A (p.Phe33805Leu)
c.98757T>A (p.Phe32919Leu)
c.98676T>A (p.Phe32892Leu)
c.80439T>A (p.Phe26813Leu)
c.70293T>A (p.Phe23431Leu)
2g.178527583A>CCA349400140TTN,TTN-AS1c.99839T>G (p.Phe33280Cys)
c.80924T>G (p.Phe26975Cys)
c.80723T>G (p.Phe26908Cys)
c.80348T>G (p.Phe26783Cys)
c.107543T>G (p.Phe35848Cys)
c.102620T>G (p.Phe34207Cys)
n.446+3947A>C
n.219+3947A>C
c.106640T>G (p.Phe35547Cys)
c.80534T>G (p.Phe26845Cys)
c.80393T>G (p.Phe26798Cys)
c.106436T>G (p.Phe35479Cys)
c.101834T>G (p.Phe33945Cys)
c.101831T>G (p.Phe33944Cys)
c.98873T>G (p.Phe32958Cys)
c.80489T>G (p.Phe26830Cys)
c.101984T>G (p.Phe33995Cys)
c.101981T>G (p.Phe33994Cys)
c.101414T>G (p.Phe33805Cys)
c.98756T>G (p.Phe32919Cys)
c.98675T>G (p.Phe32892Cys)
c.80438T>G (p.Phe26813Cys)
c.70292T>G (p.Phe23431Cys)
2g.178527583A>GCA349400141TTN,TTN-AS1c.99839T>C (p.Phe33280Ser)
c.80924T>C (p.Phe26975Ser)
c.80723T>C (p.Phe26908Ser)
c.80348T>C (p.Phe26783Ser)
c.107543T>C (p.Phe35848Ser)
c.102620T>C (p.Phe34207Ser)
n.446+3947A>G
n.219+3947A>G
c.106640T>C (p.Phe35547Ser)
c.80534T>C (p.Phe26845Ser)
c.80393T>C (p.Phe26798Ser)
c.106436T>C (p.Phe35479Ser)
c.101834T>C (p.Phe33945Ser)
c.101831T>C (p.Phe33944Ser)
c.98873T>C (p.Phe32958Ser)
c.80489T>C (p.Phe26830Ser)
c.101984T>C (p.Phe33995Ser)
c.101981T>C (p.Phe33994Ser)
c.101414T>C (p.Phe33805Ser)
c.98756T>C (p.Phe32919Ser)
c.98675T>C (p.Phe32892Ser)
c.80438T>C (p.Phe26813Ser)
c.70292T>C (p.Phe23431Ser)
2g.178527583A>TCA349400142TTN,TTN-AS1c.99839T>A (p.Phe33280Tyr)
c.80924T>A (p.Phe26975Tyr)
c.80723T>A (p.Phe26908Tyr)
c.80348T>A (p.Phe26783Tyr)
c.107543T>A (p.Phe35848Tyr)
c.102620T>A (p.Phe34207Tyr)
n.446+3947A>T
n.219+3947A>T
c.106640T>A (p.Phe35547Tyr)
c.80534T>A (p.Phe26845Tyr)
c.80393T>A (p.Phe26798Tyr)
c.106436T>A (p.Phe35479Tyr)
c.101834T>A (p.Phe33945Tyr)
c.101831T>A (p.Phe33944Tyr)
c.98873T>A (p.Phe32958Tyr)
c.80489T>A (p.Phe26830Tyr)
c.101984T>A (p.Phe33995Tyr)
c.101981T>A (p.Phe33994Tyr)
c.101414T>A (p.Phe33805Tyr)
c.98756T>A (p.Phe32919Tyr)
c.98675T>A (p.Phe32892Tyr)
c.80438T>A (p.Phe26813Tyr)
c.70292T>A (p.Phe23431Tyr)
2g.178527584A>CCA349400143TTN,TTN-AS1c.99838T>G (p.Phe33280Val)
c.80923T>G (p.Phe26975Val)
c.80722T>G (p.Phe26908Val)
c.80347T>G (p.Phe26783Val)
c.107542T>G (p.Phe35848Val)
c.102619T>G (p.Phe34207Val)
n.446+3948A>C
n.219+3948A>C
c.106639T>G (p.Phe35547Val)
c.80533T>G (p.Phe26845Val)
c.80392T>G (p.Phe26798Val)
c.106435T>G (p.Phe35479Val)
c.101833T>G (p.Phe33945Val)
c.101830T>G (p.Phe33944Val)
c.98872T>G (p.Phe32958Val)
c.80488T>G (p.Phe26830Val)
c.101983T>G (p.Phe33995Val)
c.101980T>G (p.Phe33994Val)
c.101413T>G (p.Phe33805Val)
c.98755T>G (p.Phe32919Val)
c.98674T>G (p.Phe32892Val)
c.80437T>G (p.Phe26813Val)
c.70291T>G (p.Phe23431Val)
 gnomAD v4
2g.178527584A>GCA349400144TTN,TTN-AS1c.99838T>C (p.Phe33280Leu)
c.80923T>C (p.Phe26975Leu)
c.80722T>C (p.Phe26908Leu)
c.80347T>C (p.Phe26783Leu)
c.107542T>C (p.Phe35848Leu)
c.102619T>C (p.Phe34207Leu)
n.446+3948A>G
n.219+3948A>G
c.106639T>C (p.Phe35547Leu)
c.80533T>C (p.Phe26845Leu)
c.80392T>C (p.Phe26798Leu)
c.106435T>C (p.Phe35479Leu)
c.101833T>C (p.Phe33945Leu)
c.101830T>C (p.Phe33944Leu)
c.98872T>C (p.Phe32958Leu)
c.80488T>C (p.Phe26830Leu)
c.101983T>C (p.Phe33995Leu)
c.101980T>C (p.Phe33994Leu)
c.101413T>C (p.Phe33805Leu)
c.98755T>C (p.Phe32919Leu)
c.98674T>C (p.Phe32892Leu)
c.80437T>C (p.Phe26813Leu)
c.70291T>C (p.Phe23431Leu)
2g.178527584A>TCA349400146TTN,TTN-AS1c.99838T>A (p.Phe33280Ile)
c.80923T>A (p.Phe26975Ile)
c.80722T>A (p.Phe26908Ile)
c.80347T>A (p.Phe26783Ile)
c.107542T>A (p.Phe35848Ile)
c.102619T>A (p.Phe34207Ile)
n.446+3948A>T
n.219+3948A>T
c.106639T>A (p.Phe35547Ile)
c.80533T>A (p.Phe26845Ile)
c.80392T>A (p.Phe26798Ile)
c.106435T>A (p.Phe35479Ile)
c.101833T>A (p.Phe33945Ile)
c.101830T>A (p.Phe33944Ile)
c.98872T>A (p.Phe32958Ile)
c.80488T>A (p.Phe26830Ile)
c.101983T>A (p.Phe33995Ile)
c.101980T>A (p.Phe33994Ile)
c.101413T>A (p.Phe33805Ile)
c.98755T>A (p.Phe32919Ile)
c.98674T>A (p.Phe32892Ile)
c.80437T>A (p.Phe26813Ile)
c.70291T>A (p.Phe23431Ile)
2g.178527585T>ACA349400148TTN,TTN-AS1c.99837A>T (p.Lys33279Asn)
c.80922A>T (p.Lys26974Asn)
c.80721A>T (p.Lys26907Asn)
c.80346A>T (p.Lys26782Asn)
c.107541A>T (p.Lys35847Asn)
c.102618A>T (p.Lys34206Asn)
n.446+3949T>A
n.219+3949T>A
c.106638A>T (p.Lys35546Asn)
c.80532A>T (p.Lys26844Asn)
c.80391A>T (p.Lys26797Asn)
c.106434A>T (p.Lys35478Asn)
c.101832A>T (p.Lys33944Asn)
c.101829A>T (p.Lys33943Asn)
c.98871A>T (p.Lys32957Asn)
c.80487A>T (p.Lys26829Asn)
c.101982A>T (p.Lys33994Asn)
c.101979A>T (p.Lys33993Asn)
c.101412A>T (p.Lys33804Asn)
c.98754A>T (p.Lys32918Asn)
c.98673A>T (p.Lys32891Asn)
c.80436A>T (p.Lys26812Asn)
c.70290A>T (p.Lys23430Asn)
2g.178527585T>CCA430234415TTN,TTN-AS1c.99837A>G (p.Lys33279=)
c.80922A>G (p.Lys26974=)
c.80721A>G (p.Lys26907=)
c.80346A>G (p.Lys26782=)
c.107541A>G (p.Lys35847=)
c.102618A>G (p.Lys34206=)
n.446+3949T>C
n.219+3949T>C
c.106638A>G (p.Lys35546=)
c.80532A>G (p.Lys26844=)
c.80391A>G (p.Lys26797=)
c.106434A>G (p.Lys35478=)
c.101832A>G (p.Lys33944=)
c.101829A>G (p.Lys33943=)
c.98871A>G (p.Lys32957=)
c.80487A>G (p.Lys26829=)
c.101982A>G (p.Lys33994=)
c.101979A>G (p.Lys33993=)
c.101412A>G (p.Lys33804=)
c.98754A>G (p.Lys32918=)
c.98673A>G (p.Lys32891=)
c.80436A>G (p.Lys26812=)
c.70290A>G (p.Lys23430=)
 ClinVar dbSNP
2g.178527585T>GCA349400147TTN,TTN-AS1c.99837A>C (p.Lys33279Asn)
c.80922A>C (p.Lys26974Asn)
c.80721A>C (p.Lys26907Asn)
c.80346A>C (p.Lys26782Asn)
c.107541A>C (p.Lys35847Asn)
c.102618A>C (p.Lys34206Asn)
n.446+3949T>G
n.219+3949T>G
c.106638A>C (p.Lys35546Asn)
c.80532A>C (p.Lys26844Asn)
c.80391A>C (p.Lys26797Asn)
c.106434A>C (p.Lys35478Asn)
c.101832A>C (p.Lys33944Asn)
c.101829A>C (p.Lys33943Asn)
c.98871A>C (p.Lys32957Asn)
c.80487A>C (p.Lys26829Asn)
c.101982A>C (p.Lys33994Asn)
c.101979A>C (p.Lys33993Asn)
c.101412A>C (p.Lys33804Asn)
c.98754A>C (p.Lys32918Asn)
c.98673A>C (p.Lys32891Asn)
c.80436A>C (p.Lys26812Asn)
c.70290A>C (p.Lys23430Asn)
2g.178527585T=CA1310508259TTN,TTN-AS1c.99837A= (p.Lys33279=)
c.80922A= (p.Lys26974=)
c.80721A= (p.Lys26907=)
c.80346A= (p.Lys26782=)
c.107541A= (p.Lys35847=)
c.102618A= (p.Lys34206=)
n.446+3949T=
n.219+3949T=
c.106638A= (p.Lys35546=)
c.80532A= (p.Lys26844=)
c.80391A= (p.Lys26797=)
c.106434A= (p.Lys35478=)
c.101832A= (p.Lys33944=)
c.101829A= (p.Lys33943=)
c.98871A= (p.Lys32957=)
c.80487A= (p.Lys26829=)
c.101982A= (p.Lys33994=)
c.101979A= (p.Lys33993=)
c.101412A= (p.Lys33804=)
c.98754A= (p.Lys32918=)
c.98673A= (p.Lys32891=)
c.80436A= (p.Lys26812=)
c.70290A= (p.Lys23430=)
2g.178527586T>ACA349400149TTN,TTN-AS1c.99836A>T (p.Lys33279Ile)
c.80921A>T (p.Lys26974Ile)
c.80720A>T (p.Lys26907Ile)
c.80345A>T (p.Lys26782Ile)
c.107540A>T (p.Lys35847Ile)
c.102617A>T (p.Lys34206Ile)
n.446+3950T>A
n.219+3950T>A
c.106637A>T (p.Lys35546Ile)
c.80531A>T (p.Lys26844Ile)
c.80390A>T (p.Lys26797Ile)
c.106433A>T (p.Lys35478Ile)
c.101831A>T (p.Lys33944Ile)
c.101828A>T (p.Lys33943Ile)
c.98870A>T (p.Lys32957Ile)
c.80486A>T (p.Lys26829Ile)
c.101981A>T (p.Lys33994Ile)
c.101978A>T (p.Lys33993Ile)
c.101411A>T (p.Lys33804Ile)
c.98753A>T (p.Lys32918Ile)
c.98672A>T (p.Lys32891Ile)
c.80435A>T (p.Lys26812Ile)
c.70289A>T (p.Lys23430Ile)
2g.178527586T>CCA349400150TTN,TTN-AS1c.99836A>G (p.Lys33279Arg)
c.80921A>G (p.Lys26974Arg)
c.80720A>G (p.Lys26907Arg)
c.80345A>G (p.Lys26782Arg)
c.107540A>G (p.Lys35847Arg)
c.102617A>G (p.Lys34206Arg)
n.446+3950T>C
n.219+3950T>C
c.106637A>G (p.Lys35546Arg)
c.80531A>G (p.Lys26844Arg)
c.80390A>G (p.Lys26797Arg)
c.106433A>G (p.Lys35478Arg)
c.101831A>G (p.Lys33944Arg)
c.101828A>G (p.Lys33943Arg)
c.98870A>G (p.Lys32957Arg)
c.80486A>G (p.Lys26829Arg)
c.101981A>G (p.Lys33994Arg)
c.101978A>G (p.Lys33993Arg)
c.101411A>G (p.Lys33804Arg)
c.98753A>G (p.Lys32918Arg)
c.98672A>G (p.Lys32891Arg)
c.80435A>G (p.Lys26812Arg)
c.70289A>G (p.Lys23430Arg)
 ClinVar dbSNP
2g.178527586T>GCA349400151TTN,TTN-AS1c.99836A>C (p.Lys33279Thr)
c.80921A>C (p.Lys26974Thr)
c.80720A>C (p.Lys26907Thr)
c.80345A>C (p.Lys26782Thr)
c.107540A>C (p.Lys35847Thr)
c.102617A>C (p.Lys34206Thr)
n.446+3950T>G
n.219+3950T>G
c.106637A>C (p.Lys35546Thr)
c.80531A>C (p.Lys26844Thr)
c.80390A>C (p.Lys26797Thr)
c.106433A>C (p.Lys35478Thr)
c.101831A>C (p.Lys33944Thr)
c.101828A>C (p.Lys33943Thr)
c.98870A>C (p.Lys32957Thr)
c.80486A>C (p.Lys26829Thr)
c.101981A>C (p.Lys33994Thr)
c.101978A>C (p.Lys33993Thr)
c.101411A>C (p.Lys33804Thr)
c.98753A>C (p.Lys32918Thr)
c.98672A>C (p.Lys32891Thr)
c.80435A>C (p.Lys26812Thr)
c.70289A>C (p.Lys23430Thr)
2g.178527586T=CA1310508262TTN,TTN-AS1c.99836A= (p.Lys33279=)
c.80921A= (p.Lys26974=)
c.80720A= (p.Lys26907=)
c.80345A= (p.Lys26782=)
c.107540A= (p.Lys35847=)
c.102617A= (p.Lys34206=)
n.446+3950T=
n.219+3950T=
c.106637A= (p.Lys35546=)
c.80531A= (p.Lys26844=)
c.80390A= (p.Lys26797=)
c.106433A= (p.Lys35478=)
c.101831A= (p.Lys33944=)
c.101828A= (p.Lys33943=)
c.98870A= (p.Lys32957=)
c.80486A= (p.Lys26829=)
c.101981A= (p.Lys33994=)
c.101978A= (p.Lys33993=)
c.101411A= (p.Lys33804=)
c.98753A= (p.Lys32918=)
c.98672A= (p.Lys32891=)
c.80435A= (p.Lys26812=)
c.70289A= (p.Lys23430=)
2g.178527587T>ACA349400152TTN,TTN-AS1c.99835A>T (p.Lys33279Ter)
c.80920A>T (p.Lys26974Ter)
c.80719A>T (p.Lys26907Ter)
c.80344A>T (p.Lys26782Ter)
c.107539A>T (p.Lys35847Ter)
c.102616A>T (p.Lys34206Ter)
n.446+3951T>A
n.219+3951T>A
c.106636A>T (p.Lys35546Ter)
c.80530A>T (p.Lys26844Ter)
c.80389A>T (p.Lys26797Ter)
c.106432A>T (p.Lys35478Ter)
c.101830A>T (p.Lys33944Ter)
c.101827A>T (p.Lys33943Ter)
c.98869A>T (p.Lys32957Ter)
c.80485A>T (p.Lys26829Ter)
c.101980A>T (p.Lys33994Ter)
c.101977A>T (p.Lys33993Ter)
c.101410A>T (p.Lys33804Ter)
c.98752A>T (p.Lys32918Ter)
c.98671A>T (p.Lys32891Ter)
c.80434A>T (p.Lys26812Ter)
c.70288A>T (p.Lys23430Ter)
2g.178527587T>CCA349400154TTN,TTN-AS1c.99835A>G (p.Lys33279Glu)
c.80920A>G (p.Lys26974Glu)
c.80719A>G (p.Lys26907Glu)
c.80344A>G (p.Lys26782Glu)
c.107539A>G (p.Lys35847Glu)
c.102616A>G (p.Lys34206Glu)
n.446+3951T>C
n.219+3951T>C
c.106636A>G (p.Lys35546Glu)
c.80530A>G (p.Lys26844Glu)
c.80389A>G (p.Lys26797Glu)
c.106432A>G (p.Lys35478Glu)
c.101830A>G (p.Lys33944Glu)
c.101827A>G (p.Lys33943Glu)
c.98869A>G (p.Lys32957Glu)
c.80485A>G (p.Lys26829Glu)
c.101980A>G (p.Lys33994Glu)
c.101977A>G (p.Lys33993Glu)
c.101410A>G (p.Lys33804Glu)
c.98752A>G (p.Lys32918Glu)
c.98671A>G (p.Lys32891Glu)
c.80434A>G (p.Lys26812Glu)
c.70288A>G (p.Lys23430Glu)
2g.178527587T>GCA349400155TTN,TTN-AS1c.99835A>C (p.Lys33279Gln)
c.80920A>C (p.Lys26974Gln)
c.80719A>C (p.Lys26907Gln)
c.80344A>C (p.Lys26782Gln)
c.107539A>C (p.Lys35847Gln)
c.102616A>C (p.Lys34206Gln)
n.446+3951T>G
n.219+3951T>G
c.106636A>C (p.Lys35546Gln)
c.80530A>C (p.Lys26844Gln)
c.80389A>C (p.Lys26797Gln)
c.106432A>C (p.Lys35478Gln)
c.101830A>C (p.Lys33944Gln)
c.101827A>C (p.Lys33943Gln)
c.98869A>C (p.Lys32957Gln)
c.80485A>C (p.Lys26829Gln)
c.101980A>C (p.Lys33994Gln)
c.101977A>C (p.Lys33993Gln)
c.101410A>C (p.Lys33804Gln)
c.98752A>C (p.Lys32918Gln)
c.98671A>C (p.Lys32891Gln)
c.80434A>C (p.Lys26812Gln)
c.70288A>C (p.Lys23430Gln)
2g.178527588C>ACA349400156TTN,TTN-AS1c.99834G>T (p.Met33278Ile)
c.80919G>T (p.Met26973Ile)
c.80718G>T (p.Met26906Ile)
c.80343G>T (p.Met26781Ile)
c.107538G>T (p.Met35846Ile)
c.102615G>T (p.Met34205Ile)
n.446+3952C>A
n.219+3952C>A
c.106635G>T (p.Met35545Ile)
c.80529G>T (p.Met26843Ile)
c.80388G>T (p.Met26796Ile)
c.106431G>T (p.Met35477Ile)
c.101829G>T (p.Met33943Ile)
c.101826G>T (p.Met33942Ile)
c.98868G>T (p.Met32956Ile)
c.80484G>T (p.Met26828Ile)
c.101979G>T (p.Met33993Ile)
c.101976G>T (p.Met33992Ile)
c.101409G>T (p.Met33803Ile)
c.98751G>T (p.Met32917Ile)
c.98670G>T (p.Met32890Ile)
c.80433G>T (p.Met26811Ile)
c.70287G>T (p.Met23429Ile)
2g.178527588C>GCA349400158TTN,TTN-AS1c.99834G>C (p.Met33278Ile)
c.80919G>C (p.Met26973Ile)
c.80718G>C (p.Met26906Ile)
c.80343G>C (p.Met26781Ile)
c.107538G>C (p.Met35846Ile)
c.102615G>C (p.Met34205Ile)
n.446+3952C>G
n.219+3952C>G
c.106635G>C (p.Met35545Ile)
c.80529G>C (p.Met26843Ile)
c.80388G>C (p.Met26796Ile)
c.106431G>C (p.Met35477Ile)
c.101829G>C (p.Met33943Ile)
c.101826G>C (p.Met33942Ile)
c.98868G>C (p.Met32956Ile)
c.80484G>C (p.Met26828Ile)
c.101979G>C (p.Met33993Ile)
c.101976G>C (p.Met33992Ile)
c.101409G>C (p.Met33803Ile)
c.98751G>C (p.Met32917Ile)
c.98670G>C (p.Met32890Ile)
c.80433G>C (p.Met26811Ile)
c.70287G>C (p.Met23429Ile)
2g.178527588C>TCA349400157TTN,TTN-AS1c.99834G>A (p.Met33278Ile)
c.80919G>A (p.Met26973Ile)
c.80718G>A (p.Met26906Ile)
c.80343G>A (p.Met26781Ile)
c.107538G>A (p.Met35846Ile)
c.102615G>A (p.Met34205Ile)
n.446+3952C>T
n.219+3952C>T
c.106635G>A (p.Met35545Ile)
c.80529G>A (p.Met26843Ile)
c.80388G>A (p.Met26796Ile)
c.106431G>A (p.Met35477Ile)
c.101829G>A (p.Met33943Ile)
c.101826G>A (p.Met33942Ile)
c.98868G>A (p.Met32956Ile)
c.80484G>A (p.Met26828Ile)
c.101979G>A (p.Met33993Ile)
c.101976G>A (p.Met33992Ile)
c.101409G>A (p.Met33803Ile)
c.98751G>A (p.Met32917Ile)
c.98670G>A (p.Met32890Ile)
c.80433G>A (p.Met26811Ile)
c.70287G>A (p.Met23429Ile)
2g.178527589A>CCA349400159TTN,TTN-AS1c.99833T>G (p.Met33278Arg)
c.80918T>G (p.Met26973Arg)
c.80717T>G (p.Met26906Arg)
c.80342T>G (p.Met26781Arg)
c.107537T>G (p.Met35846Arg)
c.102614T>G (p.Met34205Arg)
n.446+3953A>C
n.219+3953A>C
c.106634T>G (p.Met35545Arg)
c.80528T>G (p.Met26843Arg)
c.80387T>G (p.Met26796Arg)
c.106430T>G (p.Met35477Arg)
c.101828T>G (p.Met33943Arg)
c.101825T>G (p.Met33942Arg)
c.98867T>G (p.Met32956Arg)
c.80483T>G (p.Met26828Arg)
c.101978T>G (p.Met33993Arg)
c.101975T>G (p.Met33992Arg)
c.101408T>G (p.Met33803Arg)
c.98750T>G (p.Met32917Arg)
c.98669T>G (p.Met32890Arg)
c.80432T>G (p.Met26811Arg)
c.70286T>G (p.Met23429Arg)
2g.178527589A>GCA349400160TTN,TTN-AS1c.99833T>C (p.Met33278Thr)
c.80918T>C (p.Met26973Thr)
c.80717T>C (p.Met26906Thr)
c.80342T>C (p.Met26781Thr)
c.107537T>C (p.Met35846Thr)
c.102614T>C (p.Met34205Thr)
n.446+3953A>G
n.219+3953A>G
c.106634T>C (p.Met35545Thr)
c.80528T>C (p.Met26843Thr)
c.80387T>C (p.Met26796Thr)
c.106430T>C (p.Met35477Thr)
c.101828T>C (p.Met33943Thr)
c.101825T>C (p.Met33942Thr)
c.98867T>C (p.Met32956Thr)
c.80483T>C (p.Met26828Thr)
c.101978T>C (p.Met33993Thr)
c.101975T>C (p.Met33992Thr)
c.101408T>C (p.Met33803Thr)
c.98750T>C (p.Met32917Thr)
c.98669T>C (p.Met32890Thr)
c.80432T>C (p.Met26811Thr)
c.70286T>C (p.Met23429Thr)
 gnomAD v4
2g.178527589A>TCA349400161TTN,TTN-AS1c.99833T>A (p.Met33278Lys)
c.80918T>A (p.Met26973Lys)
c.80717T>A (p.Met26906Lys)
c.80342T>A (p.Met26781Lys)
c.107537T>A (p.Met35846Lys)
c.102614T>A (p.Met34205Lys)
n.446+3953A>T
n.219+3953A>T
c.106634T>A (p.Met35545Lys)
c.80528T>A (p.Met26843Lys)
c.80387T>A (p.Met26796Lys)
c.106430T>A (p.Met35477Lys)
c.101828T>A (p.Met33943Lys)
c.101825T>A (p.Met33942Lys)
c.98867T>A (p.Met32956Lys)
c.80483T>A (p.Met26828Lys)
c.101978T>A (p.Met33993Lys)
c.101975T>A (p.Met33992Lys)
c.101408T>A (p.Met33803Lys)
c.98750T>A (p.Met32917Lys)
c.98669T>A (p.Met32890Lys)
c.80432T>A (p.Met26811Lys)
c.70286T>A (p.Met23429Lys)
2g.178527590T>ACA349400162TTN,TTN-AS1c.99832A>T (p.Met33278Leu)
c.80917A>T (p.Met26973Leu)
c.80716A>T (p.Met26906Leu)
c.80341A>T (p.Met26781Leu)
c.107536A>T (p.Met35846Leu)
c.102613A>T (p.Met34205Leu)
n.446+3954T>A
n.219+3954T>A
c.106633A>T (p.Met35545Leu)
c.80527A>T (p.Met26843Leu)
c.80386A>T (p.Met26796Leu)
c.106429A>T (p.Met35477Leu)
c.101827A>T (p.Met33943Leu)
c.101824A>T (p.Met33942Leu)
c.98866A>T (p.Met32956Leu)
c.80482A>T (p.Met26828Leu)
c.101977A>T (p.Met33993Leu)
c.101974A>T (p.Met33992Leu)
c.101407A>T (p.Met33803Leu)
c.98749A>T (p.Met32917Leu)
c.98668A>T (p.Met32890Leu)
c.80431A>T (p.Met26811Leu)
c.70285A>T (p.Met23429Leu)
2g.178527590T>CCA349400163TTN,TTN-AS1c.99832A>G (p.Met33278Val)
c.80917A>G (p.Met26973Val)
c.80716A>G (p.Met26906Val)
c.80341A>G (p.Met26781Val)
c.107536A>G (p.Met35846Val)
c.102613A>G (p.Met34205Val)
n.446+3954T>C
n.219+3954T>C
c.106633A>G (p.Met35545Val)
c.80527A>G (p.Met26843Val)
c.80386A>G (p.Met26796Val)
c.106429A>G (p.Met35477Val)
c.101827A>G (p.Met33943Val)
c.101824A>G (p.Met33942Val)
c.98866A>G (p.Met32956Val)
c.80482A>G (p.Met26828Val)
c.101977A>G (p.Met33993Val)
c.101974A>G (p.Met33992Val)
c.101407A>G (p.Met33803Val)
c.98749A>G (p.Met32917Val)
c.98668A>G (p.Met32890Val)
c.80431A>G (p.Met26811Val)
c.70285A>G (p.Met23429Val)
2g.178527590T>GCA349400164TTN,TTN-AS1c.99832A>C (p.Met33278Leu)
c.80917A>C (p.Met26973Leu)
c.80716A>C (p.Met26906Leu)
c.80341A>C (p.Met26781Leu)
c.107536A>C (p.Met35846Leu)
c.102613A>C (p.Met34205Leu)
n.446+3954T>G
n.219+3954T>G
c.106633A>C (p.Met35545Leu)
c.80527A>C (p.Met26843Leu)
c.80386A>C (p.Met26796Leu)
c.106429A>C (p.Met35477Leu)
c.101827A>C (p.Met33943Leu)
c.101824A>C (p.Met33942Leu)
c.98866A>C (p.Met32956Leu)
c.80482A>C (p.Met26828Leu)
c.101977A>C (p.Met33993Leu)
c.101974A>C (p.Met33992Leu)
c.101407A>C (p.Met33803Leu)
c.98749A>C (p.Met32917Leu)
c.98668A>C (p.Met32890Leu)
c.80431A>C (p.Met26811Leu)
c.70285A>C (p.Met23429Leu)
2g.178527591C>ACA349400165TTN,TTN-AS1c.99831G>T (p.Glu33277Asp)
c.80916G>T (p.Glu26972Asp)
c.80715G>T (p.Glu26905Asp)
c.80340G>T (p.Glu26780Asp)
c.107535G>T (p.Glu35845Asp)
c.102612G>T (p.Glu34204Asp)
n.446+3955C>A
n.219+3955C>A
c.106632G>T (p.Glu35544Asp)
c.80526G>T (p.Glu26842Asp)
c.80385G>T (p.Glu26795Asp)
c.106428G>T (p.Glu35476Asp)
c.101826G>T (p.Glu33942Asp)
c.101823G>T (p.Glu33941Asp)
c.98865G>T (p.Glu32955Asp)
c.80481G>T (p.Glu26827Asp)
c.101976G>T (p.Glu33992Asp)
c.101973G>T (p.Glu33991Asp)
c.101406G>T (p.Glu33802Asp)
c.98748G>T (p.Glu32916Asp)
c.98667G>T (p.Glu32889Asp)
c.80430G>T (p.Glu26810Asp)
c.70284G>T (p.Glu23428Asp)
2g.178527591C=CA1310508267TTN,TTN-AS1c.99831G= (p.Glu33277=)
c.80916G= (p.Glu26972=)
c.80715G= (p.Glu26905=)
c.80340G= (p.Glu26780=)
c.107535G= (p.Glu35845=)
c.102612G= (p.Glu34204=)
n.446+3955C=
n.219+3955C=
c.106632G= (p.Glu35544=)
c.80526G= (p.Glu26842=)
c.80385G= (p.Glu26795=)
c.106428G= (p.Glu35476=)
c.101826G= (p.Glu33942=)
c.101823G= (p.Glu33941=)
c.98865G= (p.Glu32955=)
c.80481G= (p.Glu26827=)
c.101976G= (p.Glu33992=)
c.101973G= (p.Glu33991=)
c.101406G= (p.Glu33802=)
c.98748G= (p.Glu32916=)
c.98667G= (p.Glu32889=)
c.80430G= (p.Glu26810=)
c.70284G= (p.Glu23428=)
2g.178527591C>GCA349400166TTN,TTN-AS1c.99831G>C (p.Glu33277Asp)
c.80916G>C (p.Glu26972Asp)
c.80715G>C (p.Glu26905Asp)
c.80340G>C (p.Glu26780Asp)
c.107535G>C (p.Glu35845Asp)
c.102612G>C (p.Glu34204Asp)
n.446+3955C>G
n.219+3955C>G
c.106632G>C (p.Glu35544Asp)
c.80526G>C (p.Glu26842Asp)
c.80385G>C (p.Glu26795Asp)
c.106428G>C (p.Glu35476Asp)
c.101826G>C (p.Glu33942Asp)
c.101823G>C (p.Glu33941Asp)
c.98865G>C (p.Glu32955Asp)
c.80481G>C (p.Glu26827Asp)
c.101976G>C (p.Glu33992Asp)
c.101973G>C (p.Glu33991Asp)
c.101406G>C (p.Glu33802Asp)
c.98748G>C (p.Glu32916Asp)
c.98667G>C (p.Glu32889Asp)
c.80430G>C (p.Glu26810Asp)
c.70284G>C (p.Glu23428Asp)
2g.178527591C>TCA430234433TTN,TTN-AS1c.99831G>A (p.Glu33277=)
c.80916G>A (p.Glu26972=)
c.80715G>A (p.Glu26905=)
c.80340G>A (p.Glu26780=)
c.107535G>A (p.Glu35845=)
c.102612G>A (p.Glu34204=)
n.446+3955C>T
n.219+3955C>T
c.106632G>A (p.Glu35544=)
c.80526G>A (p.Glu26842=)
c.80385G>A (p.Glu26795=)
c.106428G>A (p.Glu35476=)
c.101826G>A (p.Glu33942=)
c.101823G>A (p.Glu33941=)
c.98865G>A (p.Glu32955=)
c.80481G>A (p.Glu26827=)
c.101976G>A (p.Glu33992=)
c.101973G>A (p.Glu33991=)
c.101406G>A (p.Glu33802=)
c.98748G>A (p.Glu32916=)
c.98667G>A (p.Glu32889=)
c.80430G>A (p.Glu26810=)
c.70284G>A (p.Glu23428=)
 ClinVar dbSNP
2g.178527592T>ACA349400167TTN,TTN-AS1c.99830A>T (p.Glu33277Val)
c.80915A>T (p.Glu26972Val)
c.80714A>T (p.Glu26905Val)
c.80339A>T (p.Glu26780Val)
c.107534A>T (p.Glu35845Val)
c.102611A>T (p.Glu34204Val)
n.446+3956T>A
n.219+3956T>A
c.106631A>T (p.Glu35544Val)
c.80525A>T (p.Glu26842Val)
c.80384A>T (p.Glu26795Val)
c.106427A>T (p.Glu35476Val)
c.101825A>T (p.Glu33942Val)
c.101822A>T (p.Glu33941Val)
c.98864A>T (p.Glu32955Val)
c.80480A>T (p.Glu26827Val)
c.101975A>T (p.Glu33992Val)
c.101972A>T (p.Glu33991Val)
c.101405A>T (p.Glu33802Val)
c.98747A>T (p.Glu32916Val)
c.98666A>T (p.Glu32889Val)
c.80429A>T (p.Glu26810Val)
c.70283A>T (p.Glu23428Val)
2g.178527592T>CCA349400168TTN,TTN-AS1c.99830A>G (p.Glu33277Gly)
c.80915A>G (p.Glu26972Gly)
c.80714A>G (p.Glu26905Gly)
c.80339A>G (p.Glu26780Gly)
c.107534A>G (p.Glu35845Gly)
c.102611A>G (p.Glu34204Gly)
n.446+3956T>C
n.219+3956T>C
c.106631A>G (p.Glu35544Gly)
c.80525A>G (p.Glu26842Gly)
c.80384A>G (p.Glu26795Gly)
c.106427A>G (p.Glu35476Gly)
c.101825A>G (p.Glu33942Gly)
c.101822A>G (p.Glu33941Gly)
c.98864A>G (p.Glu32955Gly)
c.80480A>G (p.Glu26827Gly)
c.101975A>G (p.Glu33992Gly)
c.101972A>G (p.Glu33991Gly)
c.101405A>G (p.Glu33802Gly)
c.98747A>G (p.Glu32916Gly)
c.98666A>G (p.Glu32889Gly)
c.80429A>G (p.Glu26810Gly)
c.70283A>G (p.Glu23428Gly)
2g.178527592T>GCA349400169TTN,TTN-AS1c.99830A>C (p.Glu33277Ala)
c.80915A>C (p.Glu26972Ala)
c.80714A>C (p.Glu26905Ala)
c.80339A>C (p.Glu26780Ala)
c.107534A>C (p.Glu35845Ala)
c.102611A>C (p.Glu34204Ala)
n.446+3956T>G
n.219+3956T>G
c.106631A>C (p.Glu35544Ala)
c.80525A>C (p.Glu26842Ala)
c.80384A>C (p.Glu26795Ala)
c.106427A>C (p.Glu35476Ala)
c.101825A>C (p.Glu33942Ala)
c.101822A>C (p.Glu33941Ala)
c.98864A>C (p.Glu32955Ala)
c.80480A>C (p.Glu26827Ala)
c.101975A>C (p.Glu33992Ala)
c.101972A>C (p.Glu33991Ala)
c.101405A>C (p.Glu33802Ala)
c.98747A>C (p.Glu32916Ala)
c.98666A>C (p.Glu32889Ala)
c.80429A>C (p.Glu26810Ala)
c.70283A>C (p.Glu23428Ala)
2g.178527593C>ACA349400172TTN,TTN-AS1c.99829G>T (p.Glu33277Ter)
c.80914G>T (p.Glu26972Ter)
c.80713G>T (p.Glu26905Ter)
c.80338G>T (p.Glu26780Ter)
c.107533G>T (p.Glu35845Ter)
c.102610G>T (p.Glu34204Ter)
n.446+3957C>A
n.219+3957C>A
c.106630G>T (p.Glu35544Ter)
c.80524G>T (p.Glu26842Ter)
c.80383G>T (p.Glu26795Ter)
c.106426G>T (p.Glu35476Ter)
c.101824G>T (p.Glu33942Ter)
c.101821G>T (p.Glu33941Ter)
c.98863G>T (p.Glu32955Ter)
c.80479G>T (p.Glu26827Ter)
c.101974G>T (p.Glu33992Ter)
c.101971G>T (p.Glu33991Ter)
c.101404G>T (p.Glu33802Ter)
c.98746G>T (p.Glu32916Ter)
c.98665G>T (p.Glu32889Ter)
c.80428G>T (p.Glu26810Ter)
c.70282G>T (p.Glu23428Ter)
2g.178527593C>GCA349400171TTN,TTN-AS1c.99829G>C (p.Glu33277Gln)
c.80914G>C (p.Glu26972Gln)
c.80713G>C (p.Glu26905Gln)
c.80338G>C (p.Glu26780Gln)
c.107533G>C (p.Glu35845Gln)
c.102610G>C (p.Glu34204Gln)
n.446+3957C>G
n.219+3957C>G
c.106630G>C (p.Glu35544Gln)
c.80524G>C (p.Glu26842Gln)
c.80383G>C (p.Glu26795Gln)
c.106426G>C (p.Glu35476Gln)
c.101824G>C (p.Glu33942Gln)
c.101821G>C (p.Glu33941Gln)
c.98863G>C (p.Glu32955Gln)
c.80479G>C (p.Glu26827Gln)
c.101974G>C (p.Glu33992Gln)
c.101971G>C (p.Glu33991Gln)
c.101404G>C (p.Glu33802Gln)
c.98746G>C (p.Glu32916Gln)
c.98665G>C (p.Glu32889Gln)
c.80428G>C (p.Glu26810Gln)
c.70282G>C (p.Glu23428Gln)
2g.178527593C>TCA349400170TTN,TTN-AS1c.99829G>A (p.Glu33277Lys)
c.80914G>A (p.Glu26972Lys)
c.80713G>A (p.Glu26905Lys)
c.80338G>A (p.Glu26780Lys)
c.107533G>A (p.Glu35845Lys)
c.102610G>A (p.Glu34204Lys)
n.446+3957C>T
n.219+3957C>T
c.106630G>A (p.Glu35544Lys)
c.80524G>A (p.Glu26842Lys)
c.80383G>A (p.Glu26795Lys)
c.106426G>A (p.Glu35476Lys)
c.101824G>A (p.Glu33942Lys)
c.101821G>A (p.Glu33941Lys)
c.98863G>A (p.Glu32955Lys)
c.80479G>A (p.Glu26827Lys)
c.101974G>A (p.Glu33992Lys)
c.101971G>A (p.Glu33991Lys)
c.101404G>A (p.Glu33802Lys)
c.98746G>A (p.Glu32916Lys)
c.98665G>A (p.Glu32889Lys)
c.80428G>A (p.Glu26810Lys)
c.70282G>A (p.Glu23428Lys)
 gnomAD v4
2g.178527594A>CCA430234436TTN,TTN-AS1c.99828T>G (p.Thr33276=)
c.80913T>G (p.Thr26971=)
c.80712T>G (p.Thr26904=)
c.80337T>G (p.Thr26779=)
c.107532T>G (p.Thr35844=)
c.102609T>G (p.Thr34203=)
n.446+3958A>C
n.219+3958A>C
c.106629T>G (p.Thr35543=)
c.80523T>G (p.Thr26841=)
c.80382T>G (p.Thr26794=)
c.106425T>G (p.Thr35475=)
c.101823T>G (p.Thr33941=)
c.101820T>G (p.Thr33940=)
c.98862T>G (p.Thr32954=)
c.80478T>G (p.Thr26826=)
c.101973T>G (p.Thr33991=)
c.101970T>G (p.Thr33990=)
c.101403T>G (p.Thr33801=)
c.98745T>G (p.Thr32915=)
c.98664T>G (p.Thr32888=)
c.80427T>G (p.Thr26809=)
c.70281T>G (p.Thr23427=)
2g.178527594A>GCA430234437TTN,TTN-AS1c.99828T>C (p.Thr33276=)
c.80913T>C (p.Thr26971=)
c.80712T>C (p.Thr26904=)
c.80337T>C (p.Thr26779=)
c.107532T>C (p.Thr35844=)
c.102609T>C (p.Thr34203=)
n.446+3958A>G
n.219+3958A>G
c.106629T>C (p.Thr35543=)
c.80523T>C (p.Thr26841=)
c.80382T>C (p.Thr26794=)
c.106425T>C (p.Thr35475=)
c.101823T>C (p.Thr33941=)
c.101820T>C (p.Thr33940=)
c.98862T>C (p.Thr32954=)
c.80478T>C (p.Thr26826=)
c.101973T>C (p.Thr33991=)
c.101970T>C (p.Thr33990=)
c.101403T>C (p.Thr33801=)
c.98745T>C (p.Thr32915=)
c.98664T>C (p.Thr32888=)
c.80427T>C (p.Thr26809=)
c.70281T>C (p.Thr23427=)
 gnomAD v4
2g.178527594A>TCA430234435TTN,TTN-AS1c.99828T>A (p.Thr33276=)
c.80913T>A (p.Thr26971=)
c.80712T>A (p.Thr26904=)
c.80337T>A (p.Thr26779=)
c.107532T>A (p.Thr35844=)
c.102609T>A (p.Thr34203=)
n.446+3958A>T
n.219+3958A>T
c.106629T>A (p.Thr35543=)
c.80523T>A (p.Thr26841=)
c.80382T>A (p.Thr26794=)
c.106425T>A (p.Thr35475=)
c.101823T>A (p.Thr33941=)
c.101820T>A (p.Thr33940=)
c.98862T>A (p.Thr32954=)
c.80478T>A (p.Thr26826=)
c.101973T>A (p.Thr33991=)
c.101970T>A (p.Thr33990=)
c.101403T>A (p.Thr33801=)
c.98745T>A (p.Thr32915=)
c.98664T>A (p.Thr32888=)
c.80427T>A (p.Thr26809=)
c.70281T>A (p.Thr23427=)
2g.178527595G>ACA349400174TTN,TTN-AS1c.99827C>T (p.Thr33276Ile)
c.80912C>T (p.Thr26971Ile)
c.80711C>T (p.Thr26904Ile)
c.80336C>T (p.Thr26779Ile)
c.107531C>T (p.Thr35844Ile)
c.102608C>T (p.Thr34203Ile)
n.446+3959G>A
n.219+3959G>A
c.106628C>T (p.Thr35543Ile)
c.80522C>T (p.Thr26841Ile)
c.80381C>T (p.Thr26794Ile)
c.106424C>T (p.Thr35475Ile)
c.101822C>T (p.Thr33941Ile)
c.101819C>T (p.Thr33940Ile)
c.98861C>T (p.Thr32954Ile)
c.80477C>T (p.Thr26826Ile)
c.101972C>T (p.Thr33991Ile)
c.101969C>T (p.Thr33990Ile)
c.101402C>T (p.Thr33801Ile)
c.98744C>T (p.Thr32915Ile)
c.98663C>T (p.Thr32888Ile)
c.80426C>T (p.Thr26809Ile)
c.70280C>T (p.Thr23427Ile)
2g.178527595G>CCA349400173TTN,TTN-AS1c.99827C>G (p.Thr33276Ser)
c.80912C>G (p.Thr26971Ser)
c.80711C>G (p.Thr26904Ser)
c.80336C>G (p.Thr26779Ser)
c.107531C>G (p.Thr35844Ser)
c.102608C>G (p.Thr34203Ser)
n.446+3959G>C
n.219+3959G>C
c.106628C>G (p.Thr35543Ser)
c.80522C>G (p.Thr26841Ser)
c.80381C>G (p.Thr26794Ser)
c.106424C>G (p.Thr35475Ser)
c.101822C>G (p.Thr33941Ser)
c.101819C>G (p.Thr33940Ser)
c.98861C>G (p.Thr32954Ser)
c.80477C>G (p.Thr26826Ser)
c.101972C>G (p.Thr33991Ser)
c.101969C>G (p.Thr33990Ser)
c.101402C>G (p.Thr33801Ser)
c.98744C>G (p.Thr32915Ser)
c.98663C>G (p.Thr32888Ser)
c.80426C>G (p.Thr26809Ser)
c.70280C>G (p.Thr23427Ser)
2g.178527595G>TCA349400175TTN,TTN-AS1c.99827C>A (p.Thr33276Asn)
c.80912C>A (p.Thr26971Asn)
c.80711C>A (p.Thr26904Asn)
c.80336C>A (p.Thr26779Asn)
c.107531C>A (p.Thr35844Asn)
c.102608C>A (p.Thr34203Asn)
n.446+3959G>T
n.219+3959G>T
c.106628C>A (p.Thr35543Asn)
c.80522C>A (p.Thr26841Asn)
c.80381C>A (p.Thr26794Asn)
c.106424C>A (p.Thr35475Asn)
c.101822C>A (p.Thr33941Asn)
c.101819C>A (p.Thr33940Asn)
c.98861C>A (p.Thr32954Asn)
c.80477C>A (p.Thr26826Asn)
c.101972C>A (p.Thr33991Asn)
c.101969C>A (p.Thr33990Asn)
c.101402C>A (p.Thr33801Asn)
c.98744C>A (p.Thr32915Asn)
c.98663C>A (p.Thr32888Asn)
c.80426C>A (p.Thr26809Asn)
c.70280C>A (p.Thr23427Asn)
2g.178527596T>ACA349400176TTN,TTN-AS1c.99826A>T (p.Thr33276Ser)
c.80911A>T (p.Thr26971Ser)
c.80710A>T (p.Thr26904Ser)
c.80335A>T (p.Thr26779Ser)
c.107530A>T (p.Thr35844Ser)
c.102607A>T (p.Thr34203Ser)
n.446+3960T>A
n.219+3960T>A
c.106627A>T (p.Thr35543Ser)
c.80521A>T (p.Thr26841Ser)
c.80380A>T (p.Thr26794Ser)
c.106423A>T (p.Thr35475Ser)
c.101821A>T (p.Thr33941Ser)
c.101818A>T (p.Thr33940Ser)
c.98860A>T (p.Thr32954Ser)
c.80476A>T (p.Thr26826Ser)
c.101971A>T (p.Thr33991Ser)
c.101968A>T (p.Thr33990Ser)
c.101401A>T (p.Thr33801Ser)
c.98743A>T (p.Thr32915Ser)
c.98662A>T (p.Thr32888Ser)
c.80425A>T (p.Thr26809Ser)
c.70279A>T (p.Thr23427Ser)
2g.178527596T>CCA349400177TTN,TTN-AS1c.99826A>G (p.Thr33276Ala)
c.80911A>G (p.Thr26971Ala)
c.80710A>G (p.Thr26904Ala)
c.80335A>G (p.Thr26779Ala)
c.107530A>G (p.Thr35844Ala)
c.102607A>G (p.Thr34203Ala)
n.446+3960T>C
n.219+3960T>C
c.106627A>G (p.Thr35543Ala)
c.80521A>G (p.Thr26841Ala)
c.80380A>G (p.Thr26794Ala)
c.106423A>G (p.Thr35475Ala)
c.101821A>G (p.Thr33941Ala)
c.101818A>G (p.Thr33940Ala)
c.98860A>G (p.Thr32954Ala)
c.80476A>G (p.Thr26826Ala)
c.101971A>G (p.Thr33991Ala)
c.101968A>G (p.Thr33990Ala)
c.101401A>G (p.Thr33801Ala)
c.98743A>G (p.Thr32915Ala)
c.98662A>G (p.Thr32888Ala)
c.80425A>G (p.Thr26809Ala)
c.70279A>G (p.Thr23427Ala)
2g.178527596T>GCA349400178TTN,TTN-AS1c.99826A>C (p.Thr33276Pro)
c.80911A>C (p.Thr26971Pro)
c.80710A>C (p.Thr26904Pro)
c.80335A>C (p.Thr26779Pro)
c.107530A>C (p.Thr35844Pro)
c.102607A>C (p.Thr34203Pro)
n.446+3960T>G
n.219+3960T>G
c.106627A>C (p.Thr35543Pro)
c.80521A>C (p.Thr26841Pro)
c.80380A>C (p.Thr26794Pro)
c.106423A>C (p.Thr35475Pro)
c.101821A>C (p.Thr33941Pro)
c.101818A>C (p.Thr33940Pro)
c.98860A>C (p.Thr32954Pro)
c.80476A>C (p.Thr26826Pro)
c.101971A>C (p.Thr33991Pro)
c.101968A>C (p.Thr33990Pro)
c.101401A>C (p.Thr33801Pro)
c.98743A>C (p.Thr32915Pro)
c.98662A>C (p.Thr32888Pro)
c.80425A>C (p.Thr26809Pro)
c.70279A>C (p.Thr23427Pro)
2g.178527597C>ACA349400179TTN,TTN-AS1c.99825G>T (p.Met33275Ile)
c.80910G>T (p.Met26970Ile)
c.80709G>T (p.Met26903Ile)
c.80334G>T (p.Met26778Ile)
c.107529G>T (p.Met35843Ile)
c.102606G>T (p.Met34202Ile)
n.446+3961C>A
n.219+3961C>A
c.106626G>T (p.Met35542Ile)
c.80520G>T (p.Met26840Ile)
c.80379G>T (p.Met26793Ile)
c.106422G>T (p.Met35474Ile)
c.101820G>T (p.Met33940Ile)
c.101817G>T (p.Met33939Ile)
c.98859G>T (p.Met32953Ile)
c.80475G>T (p.Met26825Ile)
c.101970G>T (p.Met33990Ile)
c.101967G>T (p.Met33989Ile)
c.101400G>T (p.Met33800Ile)
c.98742G>T (p.Met32914Ile)
c.98661G>T (p.Met32887Ile)
c.80424G>T (p.Met26808Ile)
c.70278G>T (p.Met23426Ile)
 gnomAD v4
2g.178527597C>GCA349400180TTN,TTN-AS1c.99825G>C (p.Met33275Ile)
c.80910G>C (p.Met26970Ile)
c.80709G>C (p.Met26903Ile)
c.80334G>C (p.Met26778Ile)
c.107529G>C (p.Met35843Ile)
c.102606G>C (p.Met34202Ile)
n.446+3961C>G
n.219+3961C>G
c.106626G>C (p.Met35542Ile)
c.80520G>C (p.Met26840Ile)
c.80379G>C (p.Met26793Ile)
c.106422G>C (p.Met35474Ile)
c.101820G>C (p.Met33940Ile)
c.101817G>C (p.Met33939Ile)
c.98859G>C (p.Met32953Ile)
c.80475G>C (p.Met26825Ile)
c.101970G>C (p.Met33990Ile)
c.101967G>C (p.Met33989Ile)
c.101400G>C (p.Met33800Ile)
c.98742G>C (p.Met32914Ile)
c.98661G>C (p.Met32887Ile)
c.80424G>C (p.Met26808Ile)
c.70278G>C (p.Met23426Ile)
2g.178527597C>TCA349400181TTN,TTN-AS1c.99825G>A (p.Met33275Ile)
c.80910G>A (p.Met26970Ile)
c.80709G>A (p.Met26903Ile)
c.80334G>A (p.Met26778Ile)
c.107529G>A (p.Met35843Ile)
c.102606G>A (p.Met34202Ile)
n.446+3961C>T
n.219+3961C>T
c.106626G>A (p.Met35542Ile)
c.80520G>A (p.Met26840Ile)
c.80379G>A (p.Met26793Ile)
c.106422G>A (p.Met35474Ile)
c.101820G>A (p.Met33940Ile)
c.101817G>A (p.Met33939Ile)
c.98859G>A (p.Met32953Ile)
c.80475G>A (p.Met26825Ile)
c.101970G>A (p.Met33990Ile)
c.101967G>A (p.Met33989Ile)
c.101400G>A (p.Met33800Ile)
c.98742G>A (p.Met32914Ile)
c.98661G>A (p.Met32887Ile)
c.80424G>A (p.Met26808Ile)
c.70278G>A (p.Met23426Ile)
 ClinVar
2g.178527598A=CA1310508271TTN,TTN-AS1c.99824T= (p.Met33275=)
c.80909T= (p.Met26970=)
c.80708T= (p.Met26903=)
c.80333T= (p.Met26778=)
c.107528T= (p.Met35843=)
c.102605T= (p.Met34202=)
n.446+3962A=
n.219+3962A=
c.106625T= (p.Met35542=)
c.80519T= (p.Met26840=)
c.80378T= (p.Met26793=)
c.106421T= (p.Met35474=)
c.101819T= (p.Met33940=)
c.101816T= (p.Met33939=)
c.98858T= (p.Met32953=)
c.80474T= (p.Met26825=)
c.101969T= (p.Met33990=)
c.101966T= (p.Met33989=)
c.101399T= (p.Met33800=)
c.98741T= (p.Met32914=)
c.98660T= (p.Met32887=)
c.80423T= (p.Met26808=)
c.70277T= (p.Met23426=)
2g.178527598A>CCA349400183TTN,TTN-AS1c.99824T>G (p.Met33275Arg)
c.80909T>G (p.Met26970Arg)
c.80708T>G (p.Met26903Arg)
c.80333T>G (p.Met26778Arg)
c.107528T>G (p.Met35843Arg)
c.102605T>G (p.Met34202Arg)
n.446+3962A>C
n.219+3962A>C
c.106625T>G (p.Met35542Arg)
c.80519T>G (p.Met26840Arg)
c.80378T>G (p.Met26793Arg)
c.106421T>G (p.Met35474Arg)
c.101819T>G (p.Met33940Arg)
c.101816T>G (p.Met33939Arg)
c.98858T>G (p.Met32953Arg)
c.80474T>G (p.Met26825Arg)
c.101969T>G (p.Met33990Arg)
c.101966T>G (p.Met33989Arg)
c.101399T>G (p.Met33800Arg)
c.98741T>G (p.Met32914Arg)
c.98660T>G (p.Met32887Arg)
c.80423T>G (p.Met26808Arg)
c.70277T>G (p.Met23426Arg)
2g.178527598A>GCA1984929TTN,TTN-AS1c.99824T>C (p.Met33275Thr)
c.80909T>C (p.Met26970Thr)
c.80708T>C (p.Met26903Thr)
c.80333T>C (p.Met26778Thr)
c.107528T>C (p.Met35843Thr)
c.102605T>C (p.Met34202Thr)
n.446+3962A>G
n.219+3962A>G
c.106625T>C (p.Met35542Thr)
c.80519T>C (p.Met26840Thr)
c.80378T>C (p.Met26793Thr)
c.106421T>C (p.Met35474Thr)
c.101819T>C (p.Met33940Thr)
c.101816T>C (p.Met33939Thr)
c.98858T>C (p.Met32953Thr)
c.80474T>C (p.Met26825Thr)
c.101969T>C (p.Met33990Thr)
c.101966T>C (p.Met33989Thr)
c.101399T>C (p.Met33800Thr)
c.98741T>C (p.Met32914Thr)
c.98660T>C (p.Met32887Thr)
c.80423T>C (p.Met26808Thr)
c.70277T>C (p.Met23426Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527598A>TCA349400182TTN,TTN-AS1c.99824T>A (p.Met33275Lys)
c.80909T>A (p.Met26970Lys)
c.80708T>A (p.Met26903Lys)
c.80333T>A (p.Met26778Lys)
c.107528T>A (p.Met35843Lys)
c.102605T>A (p.Met34202Lys)
n.446+3962A>T
n.219+3962A>T
c.106625T>A (p.Met35542Lys)
c.80519T>A (p.Met26840Lys)
c.80378T>A (p.Met26793Lys)
c.106421T>A (p.Met35474Lys)
c.101819T>A (p.Met33940Lys)
c.101816T>A (p.Met33939Lys)
c.98858T>A (p.Met32953Lys)
c.80474T>A (p.Met26825Lys)
c.101969T>A (p.Met33990Lys)
c.101966T>A (p.Met33989Lys)
c.101399T>A (p.Met33800Lys)
c.98741T>A (p.Met32914Lys)
c.98660T>A (p.Met32887Lys)
c.80423T>A (p.Met26808Lys)
c.70277T>A (p.Met23426Lys)
2g.178527598_178527599insGCA2753331271TTN,TTN-AS1c.99823_99824insC (p.Met33275ThrfsTer3)
c.80908_80909insC (p.Met26970ThrfsTer3)
c.80707_80708insC (p.Met26903ThrfsTer3)
c.80332_80333insC (p.Met26778ThrfsTer3)
c.107527_107528insC (p.Met35843ThrfsTer3)
c.102604_102605insC (p.Met34202ThrfsTer3)
n.446+3962_446+3963insG
n.219+3962_219+3963insG
c.106624_106625insC (p.Met35542ThrfsTer3)
c.80518_80519insC (p.Met26840ThrfsTer3)
c.80377_80378insC (p.Met26793ThrfsTer3)
c.106420_106421insC (p.Met35474ThrfsTer3)
c.101818_101819insC (p.Met33940ThrfsTer3)
c.101815_101816insC (p.Met33939ThrfsTer3)
c.98857_98858insC (p.Met32953ThrfsTer3)
c.80473_80474insC (p.Met26825ThrfsTer3)
c.101968_101969insC (p.Met33990ThrfsTer3)
c.101965_101966insC (p.Met33989ThrfsTer3)
c.101398_101399insC (p.Met33800ThrfsTer3)
c.98740_98741insC (p.Met32914ThrfsTer3)
c.98659_98660insC (p.Met32887ThrfsTer3)
c.80422_80423insC (p.Met26808ThrfsTer3)
c.70276_70277insC (p.Met23426ThrfsTer3)
2g.178527599T>ACA349400184TTN,TTN-AS1c.99823A>T (p.Met33275Leu)
c.80908A>T (p.Met26970Leu)
c.80707A>T (p.Met26903Leu)
c.80332A>T (p.Met26778Leu)
c.107527A>T (p.Met35843Leu)
c.102604A>T (p.Met34202Leu)
n.446+3963T>A
n.219+3963T>A
c.106624A>T (p.Met35542Leu)
c.80518A>T (p.Met26840Leu)
c.80377A>T (p.Met26793Leu)
c.106420A>T (p.Met35474Leu)
c.101818A>T (p.Met33940Leu)
c.101815A>T (p.Met33939Leu)
c.98857A>T (p.Met32953Leu)
c.80473A>T (p.Met26825Leu)
c.101968A>T (p.Met33990Leu)
c.101965A>T (p.Met33989Leu)
c.101398A>T (p.Met33800Leu)
c.98740A>T (p.Met32914Leu)
c.98659A>T (p.Met32887Leu)
c.80422A>T (p.Met26808Leu)
c.70276A>T (p.Met23426Leu)
2g.178527599T>CCA349400185TTN,TTN-AS1c.99823A>G (p.Met33275Val)
c.80908A>G (p.Met26970Val)
c.80707A>G (p.Met26903Val)
c.80332A>G (p.Met26778Val)
c.107527A>G (p.Met35843Val)
c.102604A>G (p.Met34202Val)
n.446+3963T>C
n.219+3963T>C
c.106624A>G (p.Met35542Val)
c.80518A>G (p.Met26840Val)
c.80377A>G (p.Met26793Val)
c.106420A>G (p.Met35474Val)
c.101818A>G (p.Met33940Val)
c.101815A>G (p.Met33939Val)
c.98857A>G (p.Met32953Val)
c.80473A>G (p.Met26825Val)
c.101968A>G (p.Met33990Val)
c.101965A>G (p.Met33989Val)
c.101398A>G (p.Met33800Val)
c.98740A>G (p.Met32914Val)
c.98659A>G (p.Met32887Val)
c.80422A>G (p.Met26808Val)
c.70276A>G (p.Met23426Val)
2g.178527599T>GCA349400186TTN,TTN-AS1c.99823A>C (p.Met33275Leu)
c.80908A>C (p.Met26970Leu)
c.80707A>C (p.Met26903Leu)
c.80332A>C (p.Met26778Leu)
c.107527A>C (p.Met35843Leu)
c.102604A>C (p.Met34202Leu)
n.446+3963T>G
n.219+3963T>G
c.106624A>C (p.Met35542Leu)
c.80518A>C (p.Met26840Leu)
c.80377A>C (p.Met26793Leu)
c.106420A>C (p.Met35474Leu)
c.101818A>C (p.Met33940Leu)
c.101815A>C (p.Met33939Leu)
c.98857A>C (p.Met32953Leu)
c.80473A>C (p.Met26825Leu)
c.101968A>C (p.Met33990Leu)
c.101965A>C (p.Met33989Leu)
c.101398A>C (p.Met33800Leu)
c.98740A>C (p.Met32914Leu)
c.98659A>C (p.Met32887Leu)
c.80422A>C (p.Met26808Leu)
c.70276A>C (p.Met23426Leu)
2g.178527600delCA2701301422TTN,TTN-AS1c.99822del (p.Ser33274ArgfsTer2)
c.80907del (p.Ser26969ArgfsTer2)
c.80706del (p.Ser26902ArgfsTer2)
c.80331del (p.Ser26777ArgfsTer2)
c.107526del (p.Ser35842ArgfsTer2)
c.102603del (p.Ser34201ArgfsTer2)
n.446+3964del
n.219+3964del
c.106623del (p.Ser35541ArgfsTer2)
c.80517del (p.Ser26839ArgfsTer2)
c.80376del (p.Ser26792ArgfsTer2)
c.106419del (p.Ser35473ArgfsTer2)
c.101817del (p.Ser33939ArgfsTer2)
c.101814del (p.Ser33938ArgfsTer2)
c.98856del (p.Ser32952ArgfsTer2)
c.80472del (p.Ser26824ArgfsTer2)
c.101967del (p.Ser33989ArgfsTer2)
c.101964del (p.Ser33988ArgfsTer2)
c.101397del (p.Ser33799ArgfsTer2)
c.98739del (p.Ser32913ArgfsTer2)
c.98658del (p.Ser32886ArgfsTer2)
c.80421del (p.Ser26807ArgfsTer2)
c.70275del (p.Ser23425ArgfsTer2)
 dbSNP
2g.178527600G>ACA430234448TTN,TTN-AS1c.99822C>T (p.Ser33274=)
c.80907C>T (p.Ser26969=)
c.80706C>T (p.Ser26902=)
c.80331C>T (p.Ser26777=)
c.107526C>T (p.Ser35842=)
c.102603C>T (p.Ser34201=)
n.446+3964G>A
n.219+3964G>A
c.106623C>T (p.Ser35541=)
c.80517C>T (p.Ser26839=)
c.80376C>T (p.Ser26792=)
c.106419C>T (p.Ser35473=)
c.101817C>T (p.Ser33939=)
c.101814C>T (p.Ser33938=)
c.98856C>T (p.Ser32952=)
c.80472C>T (p.Ser26824=)
c.101967C>T (p.Ser33989=)
c.101964C>T (p.Ser33988=)
c.101397C>T (p.Ser33799=)
c.98739C>T (p.Ser32913=)
c.98658C>T (p.Ser32886=)
c.80421C>T (p.Ser26807=)
c.70275C>T (p.Ser23425=)
 ClinVar dbSNP gnomAD v2
2g.178527600G>CCA349400187TTN,TTN-AS1c.99822C>G (p.Ser33274Arg)
c.80907C>G (p.Ser26969Arg)
c.80706C>G (p.Ser26902Arg)
c.80331C>G (p.Ser26777Arg)
c.107526C>G (p.Ser35842Arg)
c.102603C>G (p.Ser34201Arg)
n.446+3964G>C
n.219+3964G>C
c.106623C>G (p.Ser35541Arg)
c.80517C>G (p.Ser26839Arg)
c.80376C>G (p.Ser26792Arg)
c.106419C>G (p.Ser35473Arg)
c.101817C>G (p.Ser33939Arg)
c.101814C>G (p.Ser33938Arg)
c.98856C>G (p.Ser32952Arg)
c.80472C>G (p.Ser26824Arg)
c.101967C>G (p.Ser33989Arg)
c.101964C>G (p.Ser33988Arg)
c.101397C>G (p.Ser33799Arg)
c.98739C>G (p.Ser32913Arg)
c.98658C>G (p.Ser32886Arg)
c.80421C>G (p.Ser26807Arg)
c.70275C>G (p.Ser23425Arg)
2g.178527600G=CA1310508278TTN,TTN-AS1c.99822C= (p.Ser33274=)
c.80907C= (p.Ser26969=)
c.80706C= (p.Ser26902=)
c.80331C= (p.Ser26777=)
c.107526C= (p.Ser35842=)
c.102603C= (p.Ser34201=)
n.446+3964G=
n.219+3964G=
c.106623C= (p.Ser35541=)
c.80517C= (p.Ser26839=)
c.80376C= (p.Ser26792=)
c.106419C= (p.Ser35473=)
c.101817C= (p.Ser33939=)
c.101814C= (p.Ser33938=)
c.98856C= (p.Ser32952=)
c.80472C= (p.Ser26824=)
c.101967C= (p.Ser33989=)
c.101964C= (p.Ser33988=)
c.101397C= (p.Ser33799=)
c.98739C= (p.Ser32913=)
c.98658C= (p.Ser32886=)
c.80421C= (p.Ser26807=)
c.70275C= (p.Ser23425=)
2g.178527600G>TCA349400188TTN,TTN-AS1c.99822C>A (p.Ser33274Arg)
c.80907C>A (p.Ser26969Arg)
c.80706C>A (p.Ser26902Arg)
c.80331C>A (p.Ser26777Arg)
c.107526C>A (p.Ser35842Arg)
c.102603C>A (p.Ser34201Arg)
n.446+3964G>T
n.219+3964G>T
c.106623C>A (p.Ser35541Arg)
c.80517C>A (p.Ser26839Arg)
c.80376C>A (p.Ser26792Arg)
c.106419C>A (p.Ser35473Arg)
c.101817C>A (p.Ser33939Arg)
c.101814C>A (p.Ser33938Arg)
c.98856C>A (p.Ser32952Arg)
c.80472C>A (p.Ser26824Arg)
c.101967C>A (p.Ser33989Arg)
c.101964C>A (p.Ser33988Arg)
c.101397C>A (p.Ser33799Arg)
c.98739C>A (p.Ser32913Arg)
c.98658C>A (p.Ser32886Arg)
c.80421C>A (p.Ser26807Arg)
c.70275C>A (p.Ser23425Arg)
2g.178527601C>ACA349400189TTN,TTN-AS1c.99821G>T (p.Ser33274Ile)
c.80906G>T (p.Ser26969Ile)
c.80705G>T (p.Ser26902Ile)
c.80330G>T (p.Ser26777Ile)
c.107525G>T (p.Ser35842Ile)
c.102602G>T (p.Ser34201Ile)
n.446+3965C>A
n.219+3965C>A
c.106622G>T (p.Ser35541Ile)
c.80516G>T (p.Ser26839Ile)
c.80375G>T (p.Ser26792Ile)
c.106418G>T (p.Ser35473Ile)
c.101816G>T (p.Ser33939Ile)
c.101813G>T (p.Ser33938Ile)
c.98855G>T (p.Ser32952Ile)
c.80471G>T (p.Ser26824Ile)
c.101966G>T (p.Ser33989Ile)
c.101963G>T (p.Ser33988Ile)
c.101396G>T (p.Ser33799Ile)
c.98738G>T (p.Ser32913Ile)
c.98657G>T (p.Ser32886Ile)
c.80420G>T (p.Ser26807Ile)
c.70274G>T (p.Ser23425Ile)
2g.178527601C>GCA349400191TTN,TTN-AS1c.99821G>C (p.Ser33274Thr)
c.80906G>C (p.Ser26969Thr)
c.80705G>C (p.Ser26902Thr)
c.80330G>C (p.Ser26777Thr)
c.107525G>C (p.Ser35842Thr)
c.102602G>C (p.Ser34201Thr)
n.446+3965C>G
n.219+3965C>G
c.106622G>C (p.Ser35541Thr)
c.80516G>C (p.Ser26839Thr)
c.80375G>C (p.Ser26792Thr)
c.106418G>C (p.Ser35473Thr)
c.101816G>C (p.Ser33939Thr)
c.101813G>C (p.Ser33938Thr)
c.98855G>C (p.Ser32952Thr)
c.80471G>C (p.Ser26824Thr)
c.101966G>C (p.Ser33989Thr)
c.101963G>C (p.Ser33988Thr)
c.101396G>C (p.Ser33799Thr)
c.98738G>C (p.Ser32913Thr)
c.98657G>C (p.Ser32886Thr)
c.80420G>C (p.Ser26807Thr)
c.70274G>C (p.Ser23425Thr)
2g.178527601C>TCA349400190TTN,TTN-AS1c.99821G>A (p.Ser33274Asn)
c.80906G>A (p.Ser26969Asn)
c.80705G>A (p.Ser26902Asn)
c.80330G>A (p.Ser26777Asn)
c.107525G>A (p.Ser35842Asn)
c.102602G>A (p.Ser34201Asn)
n.446+3965C>T
n.219+3965C>T
c.106622G>A (p.Ser35541Asn)
c.80516G>A (p.Ser26839Asn)
c.80375G>A (p.Ser26792Asn)
c.106418G>A (p.Ser35473Asn)
c.101816G>A (p.Ser33939Asn)
c.101813G>A (p.Ser33938Asn)
c.98855G>A (p.Ser32952Asn)
c.80471G>A (p.Ser26824Asn)
c.101966G>A (p.Ser33989Asn)
c.101963G>A (p.Ser33988Asn)
c.101396G>A (p.Ser33799Asn)
c.98738G>A (p.Ser32913Asn)
c.98657G>A (p.Ser32886Asn)
c.80420G>A (p.Ser26807Asn)
c.70274G>A (p.Ser23425Asn)
2g.178527601_178527602insAAACA2753331276TTN,TTN-AS1c.99820_99821insTTT (p.Ser33274delinsIleCys)
c.80905_80906insTTT (p.Ser26969delinsIleCys)
c.80704_80705insTTT (p.Ser26902delinsIleCys)
c.80329_80330insTTT (p.Ser26777delinsIleCys)
c.107524_107525insTTT (p.Ser35842delinsIleCys)
c.102601_102602insTTT (p.Ser34201delinsIleCys)
n.446+3965_446+3966insAAA
n.219+3965_219+3966insAAA
c.106621_106622insTTT (p.Ser35541delinsIleCys)
c.80515_80516insTTT (p.Ser26839delinsIleCys)
c.80374_80375insTTT (p.Ser26792delinsIleCys)
c.106417_106418insTTT (p.Ser35473delinsIleCys)
c.101815_101816insTTT (p.Ser33939delinsIleCys)
c.101812_101813insTTT (p.Ser33938delinsIleCys)
c.98854_98855insTTT (p.Ser32952delinsIleCys)
c.80470_80471insTTT (p.Ser26824delinsIleCys)
c.101965_101966insTTT (p.Ser33989delinsIleCys)
c.101962_101963insTTT (p.Ser33988delinsIleCys)
c.101395_101396insTTT (p.Ser33799delinsIleCys)
c.98737_98738insTTT (p.Ser32913delinsIleCys)
c.98656_98657insTTT (p.Ser32886delinsIleCys)
c.80419_80420insTTT (p.Ser26807delinsIleCys)
c.70273_70274insTTT (p.Ser23425delinsIleCys)
2g.178527602T>ACA349400192TTN,TTN-AS1c.99820A>T (p.Ser33274Cys)
c.80905A>T (p.Ser26969Cys)
c.80704A>T (p.Ser26902Cys)
c.80329A>T (p.Ser26777Cys)
c.107524A>T (p.Ser35842Cys)
c.102601A>T (p.Ser34201Cys)
n.446+3966T>A
n.219+3966T>A
c.106621A>T (p.Ser35541Cys)
c.80515A>T (p.Ser26839Cys)
c.80374A>T (p.Ser26792Cys)
c.106417A>T (p.Ser35473Cys)
c.101815A>T (p.Ser33939Cys)
c.101812A>T (p.Ser33938Cys)
c.98854A>T (p.Ser32952Cys)
c.80470A>T (p.Ser26824Cys)
c.101965A>T (p.Ser33989Cys)
c.101962A>T (p.Ser33988Cys)
c.101395A>T (p.Ser33799Cys)
c.98737A>T (p.Ser32913Cys)
c.98656A>T (p.Ser32886Cys)
c.80419A>T (p.Ser26807Cys)
c.70273A>T (p.Ser23425Cys)
2g.178527602T>CCA349400193TTN,TTN-AS1c.99820A>G (p.Ser33274Gly)
c.80905A>G (p.Ser26969Gly)
c.80704A>G (p.Ser26902Gly)
c.80329A>G (p.Ser26777Gly)
c.107524A>G (p.Ser35842Gly)
c.102601A>G (p.Ser34201Gly)
n.446+3966T>C
n.219+3966T>C
c.106621A>G (p.Ser35541Gly)
c.80515A>G (p.Ser26839Gly)
c.80374A>G (p.Ser26792Gly)
c.106417A>G (p.Ser35473Gly)
c.101815A>G (p.Ser33939Gly)
c.101812A>G (p.Ser33938Gly)
c.98854A>G (p.Ser32952Gly)
c.80470A>G (p.Ser26824Gly)
c.101965A>G (p.Ser33989Gly)
c.101962A>G (p.Ser33988Gly)
c.101395A>G (p.Ser33799Gly)
c.98737A>G (p.Ser32913Gly)
c.98656A>G (p.Ser32886Gly)
c.80419A>G (p.Ser26807Gly)
c.70273A>G (p.Ser23425Gly)
 ClinVar dbSNP
2g.178527602T>GCA349400194TTN,TTN-AS1c.99820A>C (p.Ser33274Arg)
c.80905A>C (p.Ser26969Arg)
c.80704A>C (p.Ser26902Arg)
c.80329A>C (p.Ser26777Arg)
c.107524A>C (p.Ser35842Arg)
c.102601A>C (p.Ser34201Arg)
n.446+3966T>G
n.219+3966T>G
c.106621A>C (p.Ser35541Arg)
c.80515A>C (p.Ser26839Arg)
c.80374A>C (p.Ser26792Arg)
c.106417A>C (p.Ser35473Arg)
c.101815A>C (p.Ser33939Arg)
c.101812A>C (p.Ser33938Arg)
c.98854A>C (p.Ser32952Arg)
c.80470A>C (p.Ser26824Arg)
c.101965A>C (p.Ser33989Arg)
c.101962A>C (p.Ser33988Arg)
c.101395A>C (p.Ser33799Arg)
c.98737A>C (p.Ser32913Arg)
c.98656A>C (p.Ser32886Arg)
c.80419A>C (p.Ser26807Arg)
c.70273A>C (p.Ser23425Arg)
2g.178527602T=CA1310508279TTN,TTN-AS1c.99820A= (p.Ser33274=)
c.80905A= (p.Ser26969=)
c.80704A= (p.Ser26902=)
c.80329A= (p.Ser26777=)
c.107524A= (p.Ser35842=)
c.102601A= (p.Ser34201=)
n.446+3966T=
n.219+3966T=
c.106621A= (p.Ser35541=)
c.80515A= (p.Ser26839=)
c.80374A= (p.Ser26792=)
c.106417A= (p.Ser35473=)
c.101815A= (p.Ser33939=)
c.101812A= (p.Ser33938=)
c.98854A= (p.Ser32952=)
c.80470A= (p.Ser26824=)
c.101965A= (p.Ser33989=)
c.101962A= (p.Ser33988=)
c.101395A= (p.Ser33799=)
c.98737A= (p.Ser32913=)
c.98656A= (p.Ser32886=)
c.80419A= (p.Ser26807=)
c.70273A= (p.Ser23425=)
2g.178527603G>ACA430234451TTN,TTN-AS1c.99819C>T (p.Ser33273=)
c.80904C>T (p.Ser26968=)
c.80703C>T (p.Ser26901=)
c.80328C>T (p.Ser26776=)
c.107523C>T (p.Ser35841=)
c.102600C>T (p.Ser34200=)
n.446+3967G>A
n.219+3967G>A
c.106620C>T (p.Ser35540=)
c.80514C>T (p.Ser26838=)
c.80373C>T (p.Ser26791=)
c.106416C>T (p.Ser35472=)
c.101814C>T (p.Ser33938=)
c.101811C>T (p.Ser33937=)
c.98853C>T (p.Ser32951=)
c.80469C>T (p.Ser26823=)
c.101964C>T (p.Ser33988=)
c.101961C>T (p.Ser33987=)
c.101394C>T (p.Ser33798=)
c.98736C>T (p.Ser32912=)
c.98655C>T (p.Ser32885=)
c.80418C>T (p.Ser26806=)
c.70272C>T (p.Ser23424=)
2g.178527603G>CCA349400195TTN,TTN-AS1c.99819C>G (p.Ser33273Arg)
c.80904C>G (p.Ser26968Arg)
c.80703C>G (p.Ser26901Arg)
c.80328C>G (p.Ser26776Arg)
c.107523C>G (p.Ser35841Arg)
c.102600C>G (p.Ser34200Arg)
n.446+3967G>C
n.219+3967G>C
c.106620C>G (p.Ser35540Arg)
c.80514C>G (p.Ser26838Arg)
c.80373C>G (p.Ser26791Arg)
c.106416C>G (p.Ser35472Arg)
c.101814C>G (p.Ser33938Arg)
c.101811C>G (p.Ser33937Arg)
c.98853C>G (p.Ser32951Arg)
c.80469C>G (p.Ser26823Arg)
c.101964C>G (p.Ser33988Arg)
c.101961C>G (p.Ser33987Arg)
c.101394C>G (p.Ser33798Arg)
c.98736C>G (p.Ser32912Arg)
c.98655C>G (p.Ser32885Arg)
c.80418C>G (p.Ser26806Arg)
c.70272C>G (p.Ser23424Arg)
2g.178527603G>TCA349400196TTN,TTN-AS1c.99819C>A (p.Ser33273Arg)
c.80904C>A (p.Ser26968Arg)
c.80703C>A (p.Ser26901Arg)
c.80328C>A (p.Ser26776Arg)
c.107523C>A (p.Ser35841Arg)
c.102600C>A (p.Ser34200Arg)
n.446+3967G>T
n.219+3967G>T
c.106620C>A (p.Ser35540Arg)
c.80514C>A (p.Ser26838Arg)
c.80373C>A (p.Ser26791Arg)
c.106416C>A (p.Ser35472Arg)
c.101814C>A (p.Ser33938Arg)
c.101811C>A (p.Ser33937Arg)
c.98853C>A (p.Ser32951Arg)
c.80469C>A (p.Ser26823Arg)
c.101964C>A (p.Ser33988Arg)
c.101961C>A (p.Ser33987Arg)
c.101394C>A (p.Ser33798Arg)
c.98736C>A (p.Ser32912Arg)
c.98655C>A (p.Ser32885Arg)
c.80418C>A (p.Ser26806Arg)
c.70272C>A (p.Ser23424Arg)
2g.178527604delCA2753331278TTN,TTN-AS1c.99818del (p.Ser33273ThrfsTer3)
c.80903del (p.Ser26968ThrfsTer3)
c.80702del (p.Ser26901ThrfsTer3)
c.80327del (p.Ser26776ThrfsTer3)
c.107522del (p.Ser35841ThrfsTer3)
c.102599del (p.Ser34200ThrfsTer3)
n.446+3968del
n.219+3968del
c.106619del (p.Ser35540ThrfsTer3)
c.80513del (p.Ser26838ThrfsTer3)
c.80372del (p.Ser26791ThrfsTer3)
c.106415del (p.Ser35472ThrfsTer3)
c.101813del (p.Ser33938ThrfsTer3)
c.101810del (p.Ser33937ThrfsTer3)
c.98852del (p.Ser32951ThrfsTer3)
c.80468del (p.Ser26823ThrfsTer3)
c.101963del (p.Ser33988ThrfsTer3)
c.101960del (p.Ser33987ThrfsTer3)
c.101393del (p.Ser33798ThrfsTer3)
c.98735del (p.Ser32912ThrfsTer3)
c.98654del (p.Ser32885ThrfsTer3)
c.80417del (p.Ser26806ThrfsTer3)
c.70271del (p.Ser23424ThrfsTer3)
2g.178527604C>ACA349400198TTN,TTN-AS1c.99818G>T (p.Ser33273Ile)
c.80903G>T (p.Ser26968Ile)
c.80702G>T (p.Ser26901Ile)
c.80327G>T (p.Ser26776Ile)
c.107522G>T (p.Ser35841Ile)
c.102599G>T (p.Ser34200Ile)
n.446+3968C>A
n.219+3968C>A
c.106619G>T (p.Ser35540Ile)
c.80513G>T (p.Ser26838Ile)
c.80372G>T (p.Ser26791Ile)
c.106415G>T (p.Ser35472Ile)
c.101813G>T (p.Ser33938Ile)
c.101810G>T (p.Ser33937Ile)
c.98852G>T (p.Ser32951Ile)
c.80468G>T (p.Ser26823Ile)
c.101963G>T (p.Ser33988Ile)
c.101960G>T (p.Ser33987Ile)
c.101393G>T (p.Ser33798Ile)
c.98735G>T (p.Ser32912Ile)
c.98654G>T (p.Ser32885Ile)
c.80417G>T (p.Ser26806Ile)
c.70271G>T (p.Ser23424Ile)
2g.178527604C>GCA349400199TTN,TTN-AS1c.99818G>C (p.Ser33273Thr)
c.80903G>C (p.Ser26968Thr)
c.80702G>C (p.Ser26901Thr)
c.80327G>C (p.Ser26776Thr)
c.107522G>C (p.Ser35841Thr)
c.102599G>C (p.Ser34200Thr)
n.446+3968C>G
n.219+3968C>G
c.106619G>C (p.Ser35540Thr)
c.80513G>C (p.Ser26838Thr)
c.80372G>C (p.Ser26791Thr)
c.106415G>C (p.Ser35472Thr)
c.101813G>C (p.Ser33938Thr)
c.101810G>C (p.Ser33937Thr)
c.98852G>C (p.Ser32951Thr)
c.80468G>C (p.Ser26823Thr)
c.101963G>C (p.Ser33988Thr)
c.101960G>C (p.Ser33987Thr)
c.101393G>C (p.Ser33798Thr)
c.98735G>C (p.Ser32912Thr)
c.98654G>C (p.Ser32885Thr)
c.80417G>C (p.Ser26806Thr)
c.70271G>C (p.Ser23424Thr)
2g.178527604C>TCA349400200TTN,TTN-AS1c.99818G>A (p.Ser33273Asn)
c.80903G>A (p.Ser26968Asn)
c.80702G>A (p.Ser26901Asn)
c.80327G>A (p.Ser26776Asn)
c.107522G>A (p.Ser35841Asn)
c.102599G>A (p.Ser34200Asn)
n.446+3968C>T
n.219+3968C>T
c.106619G>A (p.Ser35540Asn)
c.80513G>A (p.Ser26838Asn)
c.80372G>A (p.Ser26791Asn)
c.106415G>A (p.Ser35472Asn)
c.101813G>A (p.Ser33938Asn)
c.101810G>A (p.Ser33937Asn)
c.98852G>A (p.Ser32951Asn)
c.80468G>A (p.Ser26823Asn)
c.101963G>A (p.Ser33988Asn)
c.101960G>A (p.Ser33987Asn)
c.101393G>A (p.Ser33798Asn)
c.98735G>A (p.Ser32912Asn)
c.98654G>A (p.Ser32885Asn)
c.80417G>A (p.Ser26806Asn)
c.70271G>A (p.Ser23424Asn)
2g.178527605T>ACA349400201TTN,TTN-AS1c.99817A>T (p.Ser33273Cys)
c.80902A>T (p.Ser26968Cys)
c.80701A>T (p.Ser26901Cys)
c.80326A>T (p.Ser26776Cys)
c.107521A>T (p.Ser35841Cys)
c.102598A>T (p.Ser34200Cys)
n.446+3969T>A
n.219+3969T>A
c.106618A>T (p.Ser35540Cys)
c.80512A>T (p.Ser26838Cys)
c.80371A>T (p.Ser26791Cys)
c.106414A>T (p.Ser35472Cys)
c.101812A>T (p.Ser33938Cys)
c.101809A>T (p.Ser33937Cys)
c.98851A>T (p.Ser32951Cys)
c.80467A>T (p.Ser26823Cys)
c.101962A>T (p.Ser33988Cys)
c.101959A>T (p.Ser33987Cys)
c.101392A>T (p.Ser33798Cys)
c.98734A>T (p.Ser32912Cys)
c.98653A>T (p.Ser32885Cys)
c.80416A>T (p.Ser26806Cys)
c.70270A>T (p.Ser23424Cys)
2g.178527605T>CCA349400202TTN,TTN-AS1c.99817A>G (p.Ser33273Gly)
c.80902A>G (p.Ser26968Gly)
c.80701A>G (p.Ser26901Gly)
c.80326A>G (p.Ser26776Gly)
c.107521A>G (p.Ser35841Gly)
c.102598A>G (p.Ser34200Gly)
n.446+3969T>C
n.219+3969T>C
c.106618A>G (p.Ser35540Gly)
c.80512A>G (p.Ser26838Gly)
c.80371A>G (p.Ser26791Gly)
c.106414A>G (p.Ser35472Gly)
c.101812A>G (p.Ser33938Gly)
c.101809A>G (p.Ser33937Gly)
c.98851A>G (p.Ser32951Gly)
c.80467A>G (p.Ser26823Gly)
c.101962A>G (p.Ser33988Gly)
c.101959A>G (p.Ser33987Gly)
c.101392A>G (p.Ser33798Gly)
c.98734A>G (p.Ser32912Gly)
c.98653A>G (p.Ser32885Gly)
c.80416A>G (p.Ser26806Gly)
c.70270A>G (p.Ser23424Gly)
 gnomAD v4
2g.178527605T>GCA1984930TTN,TTN-AS1c.99817A>C (p.Ser33273Arg)
c.80902A>C (p.Ser26968Arg)
c.80701A>C (p.Ser26901Arg)
c.80326A>C (p.Ser26776Arg)
c.107521A>C (p.Ser35841Arg)
c.102598A>C (p.Ser34200Arg)
n.446+3969T>G
n.219+3969T>G
c.106618A>C (p.Ser35540Arg)
c.80512A>C (p.Ser26838Arg)
c.80371A>C (p.Ser26791Arg)
c.106414A>C (p.Ser35472Arg)
c.101812A>C (p.Ser33938Arg)
c.101809A>C (p.Ser33937Arg)
c.98851A>C (p.Ser32951Arg)
c.80467A>C (p.Ser26823Arg)
c.101962A>C (p.Ser33988Arg)
c.101959A>C (p.Ser33987Arg)
c.101392A>C (p.Ser33798Arg)
c.98734A>C (p.Ser32912Arg)
c.98653A>C (p.Ser32885Arg)
c.80416A>C (p.Ser26806Arg)
c.70270A>C (p.Ser23424Arg)
 dbSNP ExAC gnomAD v2
2g.178527605T=CA1310508280TTN,TTN-AS1c.99817A= (p.Ser33273=)
c.80902A= (p.Ser26968=)
c.80701A= (p.Ser26901=)
c.80326A= (p.Ser26776=)
c.107521A= (p.Ser35841=)
c.102598A= (p.Ser34200=)
n.446+3969T=
n.219+3969T=
c.106618A= (p.Ser35540=)
c.80512A= (p.Ser26838=)
c.80371A= (p.Ser26791=)
c.106414A= (p.Ser35472=)
c.101812A= (p.Ser33938=)
c.101809A= (p.Ser33937=)
c.98851A= (p.Ser32951=)
c.80467A= (p.Ser26823=)
c.101962A= (p.Ser33988=)
c.101959A= (p.Ser33987=)
c.101392A= (p.Ser33798=)
c.98734A= (p.Ser32912=)
c.98653A= (p.Ser32885=)
c.80416A= (p.Ser26806=)
c.70270A= (p.Ser23424=)
2g.178527606A=CA1310508282TTN,TTN-AS1c.99816T= (p.Ala33272=)
c.80901T= (p.Ala26967=)
c.80700T= (p.Ala26900=)
c.80325T= (p.Ala26775=)
c.107520T= (p.Ala35840=)
c.102597T= (p.Ala34199=)
n.446+3970A=
n.219+3970A=
c.106617T= (p.Ala35539=)
c.80511T= (p.Ala26837=)
c.80370T= (p.Ala26790=)
c.106413T= (p.Ala35471=)
c.101811T= (p.Ala33937=)
c.101808T= (p.Ala33936=)
c.98850T= (p.Ala32950=)
c.80466T= (p.Ala26822=)
c.101961T= (p.Ala33987=)
c.101958T= (p.Ala33986=)
c.101391T= (p.Ala33797=)
c.98733T= (p.Ala32911=)
c.98652T= (p.Ala32884=)
c.80415T= (p.Ala26805=)
c.70269T= (p.Ala23423=)
2g.178527606A>CCA430234461TTN,TTN-AS1c.99816T>G (p.Ala33272=)
c.80901T>G (p.Ala26967=)
c.80700T>G (p.Ala26900=)
c.80325T>G (p.Ala26775=)
c.107520T>G (p.Ala35840=)
c.102597T>G (p.Ala34199=)
n.446+3970A>C
n.219+3970A>C
c.106617T>G (p.Ala35539=)
c.80511T>G (p.Ala26837=)
c.80370T>G (p.Ala26790=)
c.106413T>G (p.Ala35471=)
c.101811T>G (p.Ala33937=)
c.101808T>G (p.Ala33936=)
c.98850T>G (p.Ala32950=)
c.80466T>G (p.Ala26822=)
c.101961T>G (p.Ala33987=)
c.101958T>G (p.Ala33986=)
c.101391T>G (p.Ala33797=)
c.98733T>G (p.Ala32911=)
c.98652T>G (p.Ala32884=)
c.80415T>G (p.Ala26805=)
c.70269T>G (p.Ala23423=)
2g.178527606A>GCA430234459TTN,TTN-AS1c.99816T>C (p.Ala33272=)
c.80901T>C (p.Ala26967=)
c.80700T>C (p.Ala26900=)
c.80325T>C (p.Ala26775=)
c.107520T>C (p.Ala35840=)
c.102597T>C (p.Ala34199=)
n.446+3970A>G
n.219+3970A>G
c.106617T>C (p.Ala35539=)
c.80511T>C (p.Ala26837=)
c.80370T>C (p.Ala26790=)
c.106413T>C (p.Ala35471=)
c.101811T>C (p.Ala33937=)
c.101808T>C (p.Ala33936=)
c.98850T>C (p.Ala32950=)
c.80466T>C (p.Ala26822=)
c.101961T>C (p.Ala33987=)
c.101958T>C (p.Ala33986=)
c.101391T>C (p.Ala33797=)
c.98733T>C (p.Ala32911=)
c.98652T>C (p.Ala32884=)
c.80415T>C (p.Ala26805=)
c.70269T>C (p.Ala23423=)
 dbSNP
2g.178527606A>TCA430234457TTN,TTN-AS1c.99816T>A (p.Ala33272=)
c.80901T>A (p.Ala26967=)
c.80700T>A (p.Ala26900=)
c.80325T>A (p.Ala26775=)
c.107520T>A (p.Ala35840=)
c.102597T>A (p.Ala34199=)
n.446+3970A>T
n.219+3970A>T
c.106617T>A (p.Ala35539=)
c.80511T>A (p.Ala26837=)
c.80370T>A (p.Ala26790=)
c.106413T>A (p.Ala35471=)
c.101811T>A (p.Ala33937=)
c.101808T>A (p.Ala33936=)
c.98850T>A (p.Ala32950=)
c.80466T>A (p.Ala26822=)
c.101961T>A (p.Ala33987=)
c.101958T>A (p.Ala33986=)
c.101391T>A (p.Ala33797=)
c.98733T>A (p.Ala32911=)
c.98652T>A (p.Ala32884=)
c.80415T>A (p.Ala26805=)
c.70269T>A (p.Ala23423=)
2g.178527606_178527609delCA2753331283TTN,TTN-AS1c.99813_99816del (p.Ser33271ArgfsTer4)
c.80898_80901del (p.Ser26966ArgfsTer4)
c.80697_80700del (p.Ser26899ArgfsTer4)
c.80322_80325del (p.Ser26774ArgfsTer4)
c.107517_107520del (p.Ser35839ArgfsTer4)
c.102594_102597del (p.Ser34198ArgfsTer4)
n.446+3970_446+3973del
n.219+3970_219+3973del
c.106614_106617del (p.Ser35538ArgfsTer4)
c.80508_80511del (p.Ser26836ArgfsTer4)
c.80367_80370del (p.Ser26789ArgfsTer4)
c.106410_106413del (p.Ser35470ArgfsTer4)
c.101808_101811del (p.Ser33936ArgfsTer4)
c.101805_101808del (p.Ser33935ArgfsTer4)
c.98847_98850del (p.Ser32949ArgfsTer4)
c.80463_80466del (p.Ser26821ArgfsTer4)
c.101958_101961del (p.Ser33986ArgfsTer4)
c.101955_101958del (p.Ser33985ArgfsTer4)
c.101388_101391del (p.Ser33796ArgfsTer4)
c.98730_98733del (p.Ser32910ArgfsTer4)
c.98649_98652del (p.Ser32883ArgfsTer4)
c.80412_80415del (p.Ser26804ArgfsTer4)
c.70266_70269del (p.Ser23422ArgfsTer4)
2g.178527607G>ACA349400206TTN,TTN-AS1c.99815C>T (p.Ala33272Val)
c.80900C>T (p.Ala26967Val)
c.80699C>T (p.Ala26900Val)
c.80324C>T (p.Ala26775Val)
c.107519C>T (p.Ala35840Val)
c.102596C>T (p.Ala34199Val)
n.446+3971G>A
n.219+3971G>A
c.106616C>T (p.Ala35539Val)
c.80510C>T (p.Ala26837Val)
c.80369C>T (p.Ala26790Val)
c.106412C>T (p.Ala35471Val)
c.101810C>T (p.Ala33937Val)
c.101807C>T (p.Ala33936Val)
c.98849C>T (p.Ala32950Val)
c.80465C>T (p.Ala26822Val)
c.101960C>T (p.Ala33987Val)
c.101957C>T (p.Ala33986Val)
c.101390C>T (p.Ala33797Val)
c.98732C>T (p.Ala32911Val)
c.98651C>T (p.Ala32884Val)
c.80414C>T (p.Ala26805Val)
c.70268C>T (p.Ala23423Val)
 gnomAD v4
2g.178527607G>CCA349400205TTN,TTN-AS1c.99815C>G (p.Ala33272Gly)
c.80900C>G (p.Ala26967Gly)
c.80699C>G (p.Ala26900Gly)
c.80324C>G (p.Ala26775Gly)
c.107519C>G (p.Ala35840Gly)
c.102596C>G (p.Ala34199Gly)
n.446+3971G>C
n.219+3971G>C
c.106616C>G (p.Ala35539Gly)
c.80510C>G (p.Ala26837Gly)
c.80369C>G (p.Ala26790Gly)
c.106412C>G (p.Ala35471Gly)
c.101810C>G (p.Ala33937Gly)
c.101807C>G (p.Ala33936Gly)
c.98849C>G (p.Ala32950Gly)
c.80465C>G (p.Ala26822Gly)
c.101960C>G (p.Ala33987Gly)
c.101957C>G (p.Ala33986Gly)
c.101390C>G (p.Ala33797Gly)
c.98732C>G (p.Ala32911Gly)
c.98651C>G (p.Ala32884Gly)
c.80414C>G (p.Ala26805Gly)
c.70268C>G (p.Ala23423Gly)
2g.178527607G>TCA349400203TTN,TTN-AS1c.99815C>A (p.Ala33272Asp)
c.80900C>A (p.Ala26967Asp)
c.80699C>A (p.Ala26900Asp)
c.80324C>A (p.Ala26775Asp)
c.107519C>A (p.Ala35840Asp)
c.102596C>A (p.Ala34199Asp)
n.446+3971G>T
n.219+3971G>T
c.106616C>A (p.Ala35539Asp)
c.80510C>A (p.Ala26837Asp)
c.80369C>A (p.Ala26790Asp)
c.106412C>A (p.Ala35471Asp)
c.101810C>A (p.Ala33937Asp)
c.101807C>A (p.Ala33936Asp)
c.98849C>A (p.Ala32950Asp)
c.80465C>A (p.Ala26822Asp)
c.101960C>A (p.Ala33987Asp)
c.101957C>A (p.Ala33986Asp)
c.101390C>A (p.Ala33797Asp)
c.98732C>A (p.Ala32911Asp)
c.98651C>A (p.Ala32884Asp)
c.80414C>A (p.Ala26805Asp)
c.70268C>A (p.Ala23423Asp)
2g.178527607_178527615delCA2528130900TTN,TTN-AS1c.99807_99815del (p.Ser33270_Ala33272del)
c.80892_80900del (p.Ser26965_Ala26967del)
c.80691_80699del (p.Ser26898_Ala26900del)
c.80316_80324del (p.Ser26773_Ala26775del)
c.107511_107519del (p.Ser35838_Ala35840del)
c.102588_102596del (p.Ser34197_Ala34199del)
n.446+3971_446+3979del
n.219+3971_219+3979del
c.106608_106616del (p.Ser35537_Ala35539del)
c.80502_80510del (p.Ser26835_Ala26837del)
c.80361_80369del (p.Ser26788_Ala26790del)
c.106404_106412del (p.Ser35469_Ala35471del)
c.101802_101810del (p.Ser33935_Ala33937del)
c.101799_101807del (p.Ser33934_Ala33936del)
c.98841_98849del (p.Ser32948_Ala32950del)
c.80457_80465del (p.Ser26820_Ala26822del)
c.101952_101960del (p.Ser33985_Ala33987del)
c.101949_101957del (p.Ser33984_Ala33986del)
c.101382_101390del (p.Ser33795_Ala33797del)
c.98724_98732del (p.Ser32909_Ala32911del)
c.98643_98651del (p.Ser32882_Ala32884del)
c.80406_80414del (p.Ser26803_Ala26805del)
c.70260_70268del (p.Ser23421_Ala23423del)
2g.178527608C>ACA349400207TTN,TTN-AS1c.99814G>T (p.Ala33272Ser)
c.80899G>T (p.Ala26967Ser)
c.80698G>T (p.Ala26900Ser)
c.80323G>T (p.Ala26775Ser)
c.107518G>T (p.Ala35840Ser)
c.102595G>T (p.Ala34199Ser)
n.446+3972C>A
n.219+3972C>A
c.106615G>T (p.Ala35539Ser)
c.80509G>T (p.Ala26837Ser)
c.80368G>T (p.Ala26790Ser)
c.106411G>T (p.Ala35471Ser)
c.101809G>T (p.Ala33937Ser)
c.101806G>T (p.Ala33936Ser)
c.98848G>T (p.Ala32950Ser)
c.80464G>T (p.Ala26822Ser)
c.101959G>T (p.Ala33987Ser)
c.101956G>T (p.Ala33986Ser)
c.101389G>T (p.Ala33797Ser)
c.98731G>T (p.Ala32911Ser)
c.98650G>T (p.Ala32884Ser)
c.80413G>T (p.Ala26805Ser)
c.70267G>T (p.Ala23423Ser)
2g.178527608C>GCA349400208TTN,TTN-AS1c.99814G>C (p.Ala33272Pro)
c.80899G>C (p.Ala26967Pro)
c.80698G>C (p.Ala26900Pro)
c.80323G>C (p.Ala26775Pro)
c.107518G>C (p.Ala35840Pro)
c.102595G>C (p.Ala34199Pro)
n.446+3972C>G
n.219+3972C>G
c.106615G>C (p.Ala35539Pro)
c.80509G>C (p.Ala26837Pro)
c.80368G>C (p.Ala26790Pro)
c.106411G>C (p.Ala35471Pro)
c.101809G>C (p.Ala33937Pro)
c.101806G>C (p.Ala33936Pro)
c.98848G>C (p.Ala32950Pro)
c.80464G>C (p.Ala26822Pro)
c.101959G>C (p.Ala33987Pro)
c.101956G>C (p.Ala33986Pro)
c.101389G>C (p.Ala33797Pro)
c.98731G>C (p.Ala32911Pro)
c.98650G>C (p.Ala32884Pro)
c.80413G>C (p.Ala26805Pro)
c.70267G>C (p.Ala23423Pro)
2g.178527608C>TCA349400209TTN,TTN-AS1c.99814G>A (p.Ala33272Thr)
c.80899G>A (p.Ala26967Thr)
c.80698G>A (p.Ala26900Thr)
c.80323G>A (p.Ala26775Thr)
c.107518G>A (p.Ala35840Thr)
c.102595G>A (p.Ala34199Thr)
n.446+3972C>T
n.219+3972C>T
c.106615G>A (p.Ala35539Thr)
c.80509G>A (p.Ala26837Thr)
c.80368G>A (p.Ala26790Thr)
c.106411G>A (p.Ala35471Thr)
c.101809G>A (p.Ala33937Thr)
c.101806G>A (p.Ala33936Thr)
c.98848G>A (p.Ala32950Thr)
c.80464G>A (p.Ala26822Thr)
c.101959G>A (p.Ala33987Thr)
c.101956G>A (p.Ala33986Thr)
c.101389G>A (p.Ala33797Thr)
c.98731G>A (p.Ala32911Thr)
c.98650G>A (p.Ala32884Thr)
c.80413G>A (p.Ala26805Thr)
c.70267G>A (p.Ala23423Thr)
2g.178527609A=CA1310508292TTN,TTN-AS1c.99813T= (p.Ser33271=)
c.80898T= (p.Ser26966=)
c.80697T= (p.Ser26899=)
c.80322T= (p.Ser26774=)
c.107517T= (p.Ser35839=)
c.102594T= (p.Ser34198=)
n.446+3973A=
n.219+3973A=
c.106614T= (p.Ser35538=)
c.80508T= (p.Ser26836=)
c.80367T= (p.Ser26789=)
c.106410T= (p.Ser35470=)
c.101808T= (p.Ser33936=)
c.101805T= (p.Ser33935=)
c.98847T= (p.Ser32949=)
c.80463T= (p.Ser26821=)
c.101958T= (p.Ser33986=)
c.101955T= (p.Ser33985=)
c.101388T= (p.Ser33796=)
c.98730T= (p.Ser32910=)
c.98649T= (p.Ser32883=)
c.80412T= (p.Ser26804=)
c.70266T= (p.Ser23422=)
2g.178527609A>CCA311295TTN,TTN-AS1c.99813T>G (p.Ser33271Arg)
c.80898T>G (p.Ser26966Arg)
c.80697T>G (p.Ser26899Arg)
c.80322T>G (p.Ser26774Arg)
c.107517T>G (p.Ser35839Arg)
c.102594T>G (p.Ser34198Arg)
n.446+3973A>C
n.219+3973A>C
c.106614T>G (p.Ser35538Arg)
c.80508T>G (p.Ser26836Arg)
c.80367T>G (p.Ser26789Arg)
c.106410T>G (p.Ser35470Arg)
c.101808T>G (p.Ser33936Arg)
c.101805T>G (p.Ser33935Arg)
c.98847T>G (p.Ser32949Arg)
c.80463T>G (p.Ser26821Arg)
c.101958T>G (p.Ser33986Arg)
c.101955T>G (p.Ser33985Arg)
c.101388T>G (p.Ser33796Arg)
c.98730T>G (p.Ser32910Arg)
c.98649T>G (p.Ser32883Arg)
c.80412T>G (p.Ser26804Arg)
c.70266T>G (p.Ser23422Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527609A>GCA430234466TTN,TTN-AS1c.99813T>C (p.Ser33271=)
c.80898T>C (p.Ser26966=)
c.80697T>C (p.Ser26899=)
c.80322T>C (p.Ser26774=)
c.107517T>C (p.Ser35839=)
c.102594T>C (p.Ser34198=)
n.446+3973A>G
n.219+3973A>G
c.106614T>C (p.Ser35538=)
c.80508T>C (p.Ser26836=)
c.80367T>C (p.Ser26789=)
c.106410T>C (p.Ser35470=)
c.101808T>C (p.Ser33936=)
c.101805T>C (p.Ser33935=)
c.98847T>C (p.Ser32949=)
c.80463T>C (p.Ser26821=)
c.101958T>C (p.Ser33986=)
c.101955T>C (p.Ser33985=)
c.101388T>C (p.Ser33796=)
c.98730T>C (p.Ser32910=)
c.98649T>C (p.Ser32883=)
c.80412T>C (p.Ser26804=)
c.70266T>C (p.Ser23422=)
 dbSNP gnomAD v2 gnomAD v4
2g.178527609A>TCA349400210TTN,TTN-AS1c.99813T>A (p.Ser33271Arg)
c.80898T>A (p.Ser26966Arg)
c.80697T>A (p.Ser26899Arg)
c.80322T>A (p.Ser26774Arg)
c.107517T>A (p.Ser35839Arg)
c.102594T>A (p.Ser34198Arg)
n.446+3973A>T
n.219+3973A>T
c.106614T>A (p.Ser35538Arg)
c.80508T>A (p.Ser26836Arg)
c.80367T>A (p.Ser26789Arg)
c.106410T>A (p.Ser35470Arg)
c.101808T>A (p.Ser33936Arg)
c.101805T>A (p.Ser33935Arg)
c.98847T>A (p.Ser32949Arg)
c.80463T>A (p.Ser26821Arg)
c.101958T>A (p.Ser33986Arg)
c.101955T>A (p.Ser33985Arg)
c.101388T>A (p.Ser33796Arg)
c.98730T>A (p.Ser32910Arg)
c.98649T>A (p.Ser32883Arg)
c.80412T>A (p.Ser26804Arg)
c.70266T>A (p.Ser23422Arg)
2g.178527610C>ACA349400211TTN,TTN-AS1c.99812G>T (p.Ser33271Ile)
c.80897G>T (p.Ser26966Ile)
c.80696G>T (p.Ser26899Ile)
c.80321G>T (p.Ser26774Ile)
c.107516G>T (p.Ser35839Ile)
c.102593G>T (p.Ser34198Ile)
n.446+3974C>A
n.219+3974C>A
c.106613G>T (p.Ser35538Ile)
c.80507G>T (p.Ser26836Ile)
c.80366G>T (p.Ser26789Ile)
c.106409G>T (p.Ser35470Ile)
c.101807G>T (p.Ser33936Ile)
c.101804G>T (p.Ser33935Ile)
c.98846G>T (p.Ser32949Ile)
c.80462G>T (p.Ser26821Ile)
c.101957G>T (p.Ser33986Ile)
c.101954G>T (p.Ser33985Ile)
c.101387G>T (p.Ser33796Ile)
c.98729G>T (p.Ser32910Ile)
c.98648G>T (p.Ser32883Ile)
c.80411G>T (p.Ser26804Ile)
c.70265G>T (p.Ser23422Ile)
2g.178527610C=CA1310508294TTN,TTN-AS1c.99812G= (p.Ser33271=)
c.80897G= (p.Ser26966=)
c.80696G= (p.Ser26899=)
c.80321G= (p.Ser26774=)
c.107516G= (p.Ser35839=)
c.102593G= (p.Ser34198=)
n.446+3974C=
n.219+3974C=
c.106613G= (p.Ser35538=)
c.80507G= (p.Ser26836=)
c.80366G= (p.Ser26789=)
c.106409G= (p.Ser35470=)
c.101807G= (p.Ser33936=)
c.101804G= (p.Ser33935=)
c.98846G= (p.Ser32949=)
c.80462G= (p.Ser26821=)
c.101957G= (p.Ser33986=)
c.101954G= (p.Ser33985=)
c.101387G= (p.Ser33796=)
c.98729G= (p.Ser32910=)
c.98648G= (p.Ser32883=)
c.80411G= (p.Ser26804=)
c.70265G= (p.Ser23422=)
2g.178527610C>GCA349400212TTN,TTN-AS1c.99812G>C (p.Ser33271Thr)
c.80897G>C (p.Ser26966Thr)
c.80696G>C (p.Ser26899Thr)
c.80321G>C (p.Ser26774Thr)
c.107516G>C (p.Ser35839Thr)
c.102593G>C (p.Ser34198Thr)
n.446+3974C>G
n.219+3974C>G
c.106613G>C (p.Ser35538Thr)
c.80507G>C (p.Ser26836Thr)
c.80366G>C (p.Ser26789Thr)
c.106409G>C (p.Ser35470Thr)
c.101807G>C (p.Ser33936Thr)
c.101804G>C (p.Ser33935Thr)
c.98846G>C (p.Ser32949Thr)
c.80462G>C (p.Ser26821Thr)
c.101957G>C (p.Ser33986Thr)
c.101954G>C (p.Ser33985Thr)
c.101387G>C (p.Ser33796Thr)
c.98729G>C (p.Ser32910Thr)
c.98648G>C (p.Ser32883Thr)
c.80411G>C (p.Ser26804Thr)
c.70265G>C (p.Ser23422Thr)
2g.178527610C>TCA1984931TTN,TTN-AS1c.99812G>A (p.Ser33271Asn)
c.80897G>A (p.Ser26966Asn)
c.80696G>A (p.Ser26899Asn)
c.80321G>A (p.Ser26774Asn)
c.107516G>A (p.Ser35839Asn)
c.102593G>A (p.Ser34198Asn)
n.446+3974C>T
n.219+3974C>T
c.106613G>A (p.Ser35538Asn)
c.80507G>A (p.Ser26836Asn)
c.80366G>A (p.Ser26789Asn)
c.106409G>A (p.Ser35470Asn)
c.101807G>A (p.Ser33936Asn)
c.101804G>A (p.Ser33935Asn)
c.98846G>A (p.Ser32949Asn)
c.80462G>A (p.Ser26821Asn)
c.101957G>A (p.Ser33986Asn)
c.101954G>A (p.Ser33985Asn)
c.101387G>A (p.Ser33796Asn)
c.98729G>A (p.Ser32910Asn)
c.98648G>A (p.Ser32883Asn)
c.80411G>A (p.Ser26804Asn)
c.70265G>A (p.Ser23422Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527611T>ACA349400213TTN,TTN-AS1c.99811A>T (p.Ser33271Cys)
c.80896A>T (p.Ser26966Cys)
c.80695A>T (p.Ser26899Cys)
c.80320A>T (p.Ser26774Cys)
c.107515A>T (p.Ser35839Cys)
c.102592A>T (p.Ser34198Cys)
n.446+3975T>A
n.219+3975T>A
c.106612A>T (p.Ser35538Cys)
c.80506A>T (p.Ser26836Cys)
c.80365A>T (p.Ser26789Cys)
c.106408A>T (p.Ser35470Cys)
c.101806A>T (p.Ser33936Cys)
c.101803A>T (p.Ser33935Cys)
c.98845A>T (p.Ser32949Cys)
c.80461A>T (p.Ser26821Cys)
c.101956A>T (p.Ser33986Cys)
c.101953A>T (p.Ser33985Cys)
c.101386A>T (p.Ser33796Cys)
c.98728A>T (p.Ser32910Cys)
c.98647A>T (p.Ser32883Cys)
c.80410A>T (p.Ser26804Cys)
c.70264A>T (p.Ser23422Cys)
2g.178527611T>CCA349400214TTN,TTN-AS1c.99811A>G (p.Ser33271Gly)
c.80896A>G (p.Ser26966Gly)
c.80695A>G (p.Ser26899Gly)
c.80320A>G (p.Ser26774Gly)
c.107515A>G (p.Ser35839Gly)
c.102592A>G (p.Ser34198Gly)
n.446+3975T>C
n.219+3975T>C
c.106612A>G (p.Ser35538Gly)
c.80506A>G (p.Ser26836Gly)
c.80365A>G (p.Ser26789Gly)
c.106408A>G (p.Ser35470Gly)
c.101806A>G (p.Ser33936Gly)
c.101803A>G (p.Ser33935Gly)
c.98845A>G (p.Ser32949Gly)
c.80461A>G (p.Ser26821Gly)
c.101956A>G (p.Ser33986Gly)
c.101953A>G (p.Ser33985Gly)
c.101386A>G (p.Ser33796Gly)
c.98728A>G (p.Ser32910Gly)
c.98647A>G (p.Ser32883Gly)
c.80410A>G (p.Ser26804Gly)
c.70264A>G (p.Ser23422Gly)
2g.178527611T>GCA349400215TTN,TTN-AS1c.99811A>C (p.Ser33271Arg)
c.80896A>C (p.Ser26966Arg)
c.80695A>C (p.Ser26899Arg)
c.80320A>C (p.Ser26774Arg)
c.107515A>C (p.Ser35839Arg)
c.102592A>C (p.Ser34198Arg)
n.446+3975T>G
n.219+3975T>G
c.106612A>C (p.Ser35538Arg)
c.80506A>C (p.Ser26836Arg)
c.80365A>C (p.Ser26789Arg)
c.106408A>C (p.Ser35470Arg)
c.101806A>C (p.Ser33936Arg)
c.101803A>C (p.Ser33935Arg)
c.98845A>C (p.Ser32949Arg)
c.80461A>C (p.Ser26821Arg)
c.101956A>C (p.Ser33986Arg)
c.101953A>C (p.Ser33985Arg)
c.101386A>C (p.Ser33796Arg)
c.98728A>C (p.Ser32910Arg)
c.98647A>C (p.Ser32883Arg)
c.80410A>C (p.Ser26804Arg)
c.70264A>C (p.Ser23422Arg)
2g.178527612G>ACA430234469TTN,TTN-AS1c.99810C>T (p.Ser33270=)
c.80895C>T (p.Ser26965=)
c.80694C>T (p.Ser26898=)
c.80319C>T (p.Ser26773=)
c.107514C>T (p.Ser35838=)
c.102591C>T (p.Ser34197=)
n.446+3976G>A
n.219+3976G>A
c.106611C>T (p.Ser35537=)
c.80505C>T (p.Ser26835=)
c.80364C>T (p.Ser26788=)
c.106407C>T (p.Ser35469=)
c.101805C>T (p.Ser33935=)
c.101802C>T (p.Ser33934=)
c.98844C>T (p.Ser32948=)
c.80460C>T (p.Ser26820=)
c.101955C>T (p.Ser33985=)
c.101952C>T (p.Ser33984=)
c.101385C>T (p.Ser33795=)
c.98727C>T (p.Ser32909=)
c.98646C>T (p.Ser32882=)
c.80409C>T (p.Ser26803=)
c.70263C>T (p.Ser23421=)
2g.178527612G>CCA349400216TTN,TTN-AS1c.99810C>G (p.Ser33270Arg)
c.80895C>G (p.Ser26965Arg)
c.80694C>G (p.Ser26898Arg)
c.80319C>G (p.Ser26773Arg)
c.107514C>G (p.Ser35838Arg)
c.102591C>G (p.Ser34197Arg)
n.446+3976G>C
n.219+3976G>C
c.106611C>G (p.Ser35537Arg)
c.80505C>G (p.Ser26835Arg)
c.80364C>G (p.Ser26788Arg)
c.106407C>G (p.Ser35469Arg)
c.101805C>G (p.Ser33935Arg)
c.101802C>G (p.Ser33934Arg)
c.98844C>G (p.Ser32948Arg)
c.80460C>G (p.Ser26820Arg)
c.101955C>G (p.Ser33985Arg)
c.101952C>G (p.Ser33984Arg)
c.101385C>G (p.Ser33795Arg)
c.98727C>G (p.Ser32909Arg)
c.98646C>G (p.Ser32882Arg)
c.80409C>G (p.Ser26803Arg)
c.70263C>G (p.Ser23421Arg)
 dbSNP
2g.178527612G=CA1310508296TTN,TTN-AS1c.99810C= (p.Ser33270=)
c.80895C= (p.Ser26965=)
c.80694C= (p.Ser26898=)
c.80319C= (p.Ser26773=)
c.107514C= (p.Ser35838=)
c.102591C= (p.Ser34197=)
n.446+3976G=
n.219+3976G=
c.106611C= (p.Ser35537=)
c.80505C= (p.Ser26835=)
c.80364C= (p.Ser26788=)
c.106407C= (p.Ser35469=)
c.101805C= (p.Ser33935=)
c.101802C= (p.Ser33934=)
c.98844C= (p.Ser32948=)
c.80460C= (p.Ser26820=)
c.101955C= (p.Ser33985=)
c.101952C= (p.Ser33984=)
c.101385C= (p.Ser33795=)
c.98727C= (p.Ser32909=)
c.98646C= (p.Ser32882=)
c.80409C= (p.Ser26803=)
c.70263C= (p.Ser23421=)
2g.178527612G>TCA349400217TTN,TTN-AS1c.99810C>A (p.Ser33270Arg)
c.80895C>A (p.Ser26965Arg)
c.80694C>A (p.Ser26898Arg)
c.80319C>A (p.Ser26773Arg)
c.107514C>A (p.Ser35838Arg)
c.102591C>A (p.Ser34197Arg)
n.446+3976G>T
n.219+3976G>T
c.106611C>A (p.Ser35537Arg)
c.80505C>A (p.Ser26835Arg)
c.80364C>A (p.Ser26788Arg)
c.106407C>A (p.Ser35469Arg)
c.101805C>A (p.Ser33935Arg)
c.101802C>A (p.Ser33934Arg)
c.98844C>A (p.Ser32948Arg)
c.80460C>A (p.Ser26820Arg)
c.101955C>A (p.Ser33985Arg)
c.101952C>A (p.Ser33984Arg)
c.101385C>A (p.Ser33795Arg)
c.98727C>A (p.Ser32909Arg)
c.98646C>A (p.Ser32882Arg)
c.80409C>A (p.Ser26803Arg)
c.70263C>A (p.Ser23421Arg)
 gnomAD v4
2g.178527613C>ACA349400220TTN,TTN-AS1c.99809G>T (p.Ser33270Ile)
c.80894G>T (p.Ser26965Ile)
c.80693G>T (p.Ser26898Ile)
c.80318G>T (p.Ser26773Ile)
c.107513G>T (p.Ser35838Ile)
c.102590G>T (p.Ser34197Ile)
n.446+3977C>A
n.219+3977C>A
c.106610G>T (p.Ser35537Ile)
c.80504G>T (p.Ser26835Ile)
c.80363G>T (p.Ser26788Ile)
c.106406G>T (p.Ser35469Ile)
c.101804G>T (p.Ser33935Ile)
c.101801G>T (p.Ser33934Ile)
c.98843G>T (p.Ser32948Ile)
c.80459G>T (p.Ser26820Ile)
c.101954G>T (p.Ser33985Ile)
c.101951G>T (p.Ser33984Ile)
c.101384G>T (p.Ser33795Ile)
c.98726G>T (p.Ser32909Ile)
c.98645G>T (p.Ser32882Ile)
c.80408G>T (p.Ser26803Ile)
c.70262G>T (p.Ser23421Ile)
2g.178527613C>GCA349400218TTN,TTN-AS1c.99809G>C (p.Ser33270Thr)
c.80894G>C (p.Ser26965Thr)
c.80693G>C (p.Ser26898Thr)
c.80318G>C (p.Ser26773Thr)
c.107513G>C (p.Ser35838Thr)
c.102590G>C (p.Ser34197Thr)
n.446+3977C>G
n.219+3977C>G
c.106610G>C (p.Ser35537Thr)
c.80504G>C (p.Ser26835Thr)
c.80363G>C (p.Ser26788Thr)
c.106406G>C (p.Ser35469Thr)
c.101804G>C (p.Ser33935Thr)
c.101801G>C (p.Ser33934Thr)
c.98843G>C (p.Ser32948Thr)
c.80459G>C (p.Ser26820Thr)
c.101954G>C (p.Ser33985Thr)
c.101951G>C (p.Ser33984Thr)
c.101384G>C (p.Ser33795Thr)
c.98726G>C (p.Ser32909Thr)
c.98645G>C (p.Ser32882Thr)
c.80408G>C (p.Ser26803Thr)
c.70262G>C (p.Ser23421Thr)
2g.178527613C>TCA349400219TTN,TTN-AS1c.99809G>A (p.Ser33270Asn)
c.80894G>A (p.Ser26965Asn)
c.80693G>A (p.Ser26898Asn)
c.80318G>A (p.Ser26773Asn)
c.107513G>A (p.Ser35838Asn)
c.102590G>A (p.Ser34197Asn)
n.446+3977C>T
n.219+3977C>T
c.106610G>A (p.Ser35537Asn)
c.80504G>A (p.Ser26835Asn)
c.80363G>A (p.Ser26788Asn)
c.106406G>A (p.Ser35469Asn)
c.101804G>A (p.Ser33935Asn)
c.101801G>A (p.Ser33934Asn)
c.98843G>A (p.Ser32948Asn)
c.80459G>A (p.Ser26820Asn)
c.101954G>A (p.Ser33985Asn)
c.101951G>A (p.Ser33984Asn)
c.101384G>A (p.Ser33795Asn)
c.98726G>A (p.Ser32909Asn)
c.98645G>A (p.Ser32882Asn)
c.80408G>A (p.Ser26803Asn)
c.70262G>A (p.Ser23421Asn)
2g.178527614T>ACA349400221TTN,TTN-AS1c.99808A>T (p.Ser33270Cys)
c.80893A>T (p.Ser26965Cys)
c.80692A>T (p.Ser26898Cys)
c.80317A>T (p.Ser26773Cys)
c.107512A>T (p.Ser35838Cys)
c.102589A>T (p.Ser34197Cys)
n.446+3978T>A
n.219+3978T>A
c.106609A>T (p.Ser35537Cys)
c.80503A>T (p.Ser26835Cys)
c.80362A>T (p.Ser26788Cys)
c.106405A>T (p.Ser35469Cys)
c.101803A>T (p.Ser33935Cys)
c.101800A>T (p.Ser33934Cys)
c.98842A>T (p.Ser32948Cys)
c.80458A>T (p.Ser26820Cys)
c.101953A>T (p.Ser33985Cys)
c.101950A>T (p.Ser33984Cys)
c.101383A>T (p.Ser33795Cys)
c.98725A>T (p.Ser32909Cys)
c.98644A>T (p.Ser32882Cys)
c.80407A>T (p.Ser26803Cys)
c.70261A>T (p.Ser23421Cys)
2g.178527614T>CCA349400222TTN,TTN-AS1c.99808A>G (p.Ser33270Gly)
c.80893A>G (p.Ser26965Gly)
c.80692A>G (p.Ser26898Gly)
c.80317A>G (p.Ser26773Gly)
c.107512A>G (p.Ser35838Gly)
c.102589A>G (p.Ser34197Gly)
n.446+3978T>C
n.219+3978T>C
c.106609A>G (p.Ser35537Gly)
c.80503A>G (p.Ser26835Gly)
c.80362A>G (p.Ser26788Gly)
c.106405A>G (p.Ser35469Gly)
c.101803A>G (p.Ser33935Gly)
c.101800A>G (p.Ser33934Gly)
c.98842A>G (p.Ser32948Gly)
c.80458A>G (p.Ser26820Gly)
c.101953A>G (p.Ser33985Gly)
c.101950A>G (p.Ser33984Gly)
c.101383A>G (p.Ser33795Gly)
c.98725A>G (p.Ser32909Gly)
c.98644A>G (p.Ser32882Gly)
c.80407A>G (p.Ser26803Gly)
c.70261A>G (p.Ser23421Gly)
 ClinVar dbSNP
2g.178527614T>GCA349400223TTN,TTN-AS1c.99808A>C (p.Ser33270Arg)
c.80893A>C (p.Ser26965Arg)
c.80692A>C (p.Ser26898Arg)
c.80317A>C (p.Ser26773Arg)
c.107512A>C (p.Ser35838Arg)
c.102589A>C (p.Ser34197Arg)
n.446+3978T>G
n.219+3978T>G
c.106609A>C (p.Ser35537Arg)
c.80503A>C (p.Ser26835Arg)
c.80362A>C (p.Ser26788Arg)
c.106405A>C (p.Ser35469Arg)
c.101803A>C (p.Ser33935Arg)
c.101800A>C (p.Ser33934Arg)
c.98842A>C (p.Ser32948Arg)
c.80458A>C (p.Ser26820Arg)
c.101953A>C (p.Ser33985Arg)
c.101950A>C (p.Ser33984Arg)
c.101383A>C (p.Ser33795Arg)
c.98725A>C (p.Ser32909Arg)
c.98644A>C (p.Ser32882Arg)
c.80407A>C (p.Ser26803Arg)
c.70261A>C (p.Ser23421Arg)
2g.178527614T=CA1310508298TTN,TTN-AS1c.99808A= (p.Ser33270=)
c.80893A= (p.Ser26965=)
c.80692A= (p.Ser26898=)
c.80317A= (p.Ser26773=)
c.107512A= (p.Ser35838=)
c.102589A= (p.Ser34197=)
n.446+3978T=
n.219+3978T=
c.106609A= (p.Ser35537=)
c.80503A= (p.Ser26835=)
c.80362A= (p.Ser26788=)
c.106405A= (p.Ser35469=)
c.101803A= (p.Ser33935=)
c.101800A= (p.Ser33934=)
c.98842A= (p.Ser32948=)
c.80458A= (p.Ser26820=)
c.101953A= (p.Ser33985=)
c.101950A= (p.Ser33984=)
c.101383A= (p.Ser33795=)
c.98725A= (p.Ser32909=)
c.98644A= (p.Ser32882=)
c.80407A= (p.Ser26803=)
c.70261A= (p.Ser23421=)
2g.178527614_178527615delCA2753331291TTN,TTN-AS1c.99807_99808del (p.Ser33269ArgfsTer4)
c.80892_80893del (p.Ser26964ArgfsTer4)
c.80691_80692del (p.Ser26897ArgfsTer4)
c.80316_80317del (p.Ser26772ArgfsTer4)
c.107511_107512del (p.Ser35837ArgfsTer4)
c.102588_102589del (p.Ser34196ArgfsTer4)
n.446+3978_446+3979del
n.219+3978_219+3979del
c.106608_106609del (p.Ser35536ArgfsTer4)
c.80502_80503del (p.Ser26834ArgfsTer4)
c.80361_80362del (p.Ser26787ArgfsTer4)
c.106404_106405del (p.Ser35468ArgfsTer4)
c.101802_101803del (p.Ser33934ArgfsTer4)
c.101799_101800del (p.Ser33933ArgfsTer4)
c.98841_98842del (p.Ser32947ArgfsTer4)
c.80457_80458del (p.Ser26819ArgfsTer4)
c.101952_101953del (p.Ser33984ArgfsTer4)
c.101949_101950del (p.Ser33983ArgfsTer4)
c.101382_101383del (p.Ser33794ArgfsTer4)
c.98724_98725del (p.Ser32908ArgfsTer4)
c.98643_98644del (p.Ser32881ArgfsTer4)
c.80406_80407del (p.Ser26802ArgfsTer4)
c.70260_70261del (p.Ser23420ArgfsTer4)
2g.178527614_178527632dupCA2662122422TTN,TTN-AS1c.99790_99808dup (p.Ser33270IlefsTer10)
c.80875_80893dup (p.Ser26965IlefsTer10)
c.80674_80692dup (p.Ser26898IlefsTer10)
c.80299_80317dup (p.Ser26773IlefsTer10)
c.107494_107512dup (p.Ser35838IlefsTer10)
c.102571_102589dup (p.Ser34197IlefsTer10)
n.446+3978_446+3996dup
n.219+3978_219+3996dup
c.106591_106609dup (p.Ser35537IlefsTer10)
c.80485_80503dup (p.Ser26835IlefsTer10)
c.80344_80362dup (p.Ser26788IlefsTer10)
c.106387_106405dup (p.Ser35469IlefsTer10)
c.101785_101803dup (p.Ser33935IlefsTer10)
c.101782_101800dup (p.Ser33934IlefsTer10)
c.98824_98842dup (p.Ser32948IlefsTer10)
c.80440_80458dup (p.Ser26820IlefsTer10)
c.101935_101953dup (p.Ser33985IlefsTer10)
c.101932_101950dup (p.Ser33984IlefsTer10)
c.101365_101383dup (p.Ser33795IlefsTer10)
c.98707_98725dup (p.Ser32909IlefsTer10)
c.98626_98644dup (p.Ser32882IlefsTer10)
c.80389_80407dup (p.Ser26803IlefsTer10)
c.70243_70261dup (p.Ser23421IlefsTer10)
 gnomAD v4
2g.178527615G>ACA430234473TTN,TTN-AS1c.99807C>T (p.Ser33269=)
c.80892C>T (p.Ser26964=)
c.80691C>T (p.Ser26897=)
c.80316C>T (p.Ser26772=)
c.107511C>T (p.Ser35837=)
c.102588C>T (p.Ser34196=)
n.446+3979G>A
n.219+3979G>A
c.106608C>T (p.Ser35536=)
c.80502C>T (p.Ser26834=)
c.80361C>T (p.Ser26787=)
c.106404C>T (p.Ser35468=)
c.101802C>T (p.Ser33934=)
c.101799C>T (p.Ser33933=)
c.98841C>T (p.Ser32947=)
c.80457C>T (p.Ser26819=)
c.101952C>T (p.Ser33984=)
c.101949C>T (p.Ser33983=)
c.101382C>T (p.Ser33794=)
c.98724C>T (p.Ser32908=)
c.98643C>T (p.Ser32881=)
c.80406C>T (p.Ser26802=)
c.70260C>T (p.Ser23420=)
 ClinVar
2g.178527615G>CCA349400224TTN,TTN-AS1c.99807C>G (p.Ser33269Arg)
c.80892C>G (p.Ser26964Arg)
c.80691C>G (p.Ser26897Arg)
c.80316C>G (p.Ser26772Arg)
c.107511C>G (p.Ser35837Arg)
c.102588C>G (p.Ser34196Arg)
n.446+3979G>C
n.219+3979G>C
c.106608C>G (p.Ser35536Arg)
c.80502C>G (p.Ser26834Arg)
c.80361C>G (p.Ser26787Arg)
c.106404C>G (p.Ser35468Arg)
c.101802C>G (p.Ser33934Arg)
c.101799C>G (p.Ser33933Arg)
c.98841C>G (p.Ser32947Arg)
c.80457C>G (p.Ser26819Arg)
c.101952C>G (p.Ser33984Arg)
c.101949C>G (p.Ser33983Arg)
c.101382C>G (p.Ser33794Arg)
c.98724C>G (p.Ser32908Arg)
c.98643C>G (p.Ser32881Arg)
c.80406C>G (p.Ser26802Arg)
c.70260C>G (p.Ser23420Arg)
2g.178527615G>TCA349400225TTN,TTN-AS1c.99807C>A (p.Ser33269Arg)
c.80892C>A (p.Ser26964Arg)
c.80691C>A (p.Ser26897Arg)
c.80316C>A (p.Ser26772Arg)
c.107511C>A (p.Ser35837Arg)
c.102588C>A (p.Ser34196Arg)
n.446+3979G>T
n.219+3979G>T
c.106608C>A (p.Ser35536Arg)
c.80502C>A (p.Ser26834Arg)
c.80361C>A (p.Ser26787Arg)
c.106404C>A (p.Ser35468Arg)
c.101802C>A (p.Ser33934Arg)
c.101799C>A (p.Ser33933Arg)
c.98841C>A (p.Ser32947Arg)
c.80457C>A (p.Ser26819Arg)
c.101952C>A (p.Ser33984Arg)
c.101949C>A (p.Ser33983Arg)
c.101382C>A (p.Ser33794Arg)
c.98724C>A (p.Ser32908Arg)
c.98643C>A (p.Ser32881Arg)
c.80406C>A (p.Ser26802Arg)
c.70260C>A (p.Ser23420Arg)
2g.178527616C>ACA349400226TTN,TTN-AS1c.99806G>T (p.Ser33269Ile)
c.80891G>T (p.Ser26964Ile)
c.80690G>T (p.Ser26897Ile)
c.80315G>T (p.Ser26772Ile)
c.107510G>T (p.Ser35837Ile)
c.102587G>T (p.Ser34196Ile)
n.446+3980C>A
n.219+3980C>A
c.106607G>T (p.Ser35536Ile)
c.80501G>T (p.Ser26834Ile)
c.80360G>T (p.Ser26787Ile)
c.106403G>T (p.Ser35468Ile)
c.101801G>T (p.Ser33934Ile)
c.101798G>T (p.Ser33933Ile)
c.98840G>T (p.Ser32947Ile)
c.80456G>T (p.Ser26819Ile)
c.101951G>T (p.Ser33984Ile)
c.101948G>T (p.Ser33983Ile)
c.101381G>T (p.Ser33794Ile)
c.98723G>T (p.Ser32908Ile)
c.98642G>T (p.Ser32881Ile)
c.80405G>T (p.Ser26802Ile)
c.70259G>T (p.Ser23420Ile)
2g.178527616C>GCA349400227TTN,TTN-AS1c.99806G>C (p.Ser33269Thr)
c.80891G>C (p.Ser26964Thr)
c.80690G>C (p.Ser26897Thr)
c.80315G>C (p.Ser26772Thr)
c.107510G>C (p.Ser35837Thr)
c.102587G>C (p.Ser34196Thr)
n.446+3980C>G
n.219+3980C>G
c.106607G>C (p.Ser35536Thr)
c.80501G>C (p.Ser26834Thr)
c.80360G>C (p.Ser26787Thr)
c.106403G>C (p.Ser35468Thr)
c.101801G>C (p.Ser33934Thr)
c.101798G>C (p.Ser33933Thr)
c.98840G>C (p.Ser32947Thr)
c.80456G>C (p.Ser26819Thr)
c.101951G>C (p.Ser33984Thr)
c.101948G>C (p.Ser33983Thr)
c.101381G>C (p.Ser33794Thr)
c.98723G>C (p.Ser32908Thr)
c.98642G>C (p.Ser32881Thr)
c.80405G>C (p.Ser26802Thr)
c.70259G>C (p.Ser23420Thr)
2g.178527616C>TCA349400228TTN,TTN-AS1c.99806G>A (p.Ser33269Asn)
c.80891G>A (p.Ser26964Asn)
c.80690G>A (p.Ser26897Asn)
c.80315G>A (p.Ser26772Asn)
c.107510G>A (p.Ser35837Asn)
c.102587G>A (p.Ser34196Asn)
n.446+3980C>T
n.219+3980C>T
c.106607G>A (p.Ser35536Asn)
c.80501G>A (p.Ser26834Asn)
c.80360G>A (p.Ser26787Asn)
c.106403G>A (p.Ser35468Asn)
c.101801G>A (p.Ser33934Asn)
c.101798G>A (p.Ser33933Asn)
c.98840G>A (p.Ser32947Asn)
c.80456G>A (p.Ser26819Asn)
c.101951G>A (p.Ser33984Asn)
c.101948G>A (p.Ser33983Asn)
c.101381G>A (p.Ser33794Asn)
c.98723G>A (p.Ser32908Asn)
c.98642G>A (p.Ser32881Asn)
c.80405G>A (p.Ser26802Asn)
c.70259G>A (p.Ser23420Asn)
 ClinVar dbSNP
2g.178527617T>ACA349400229TTN,TTN-AS1c.99805A>T (p.Ser33269Cys)
c.80890A>T (p.Ser26964Cys)
c.80689A>T (p.Ser26897Cys)
c.80314A>T (p.Ser26772Cys)
c.107509A>T (p.Ser35837Cys)
c.102586A>T (p.Ser34196Cys)
n.446+3981T>A
n.219+3981T>A
c.106606A>T (p.Ser35536Cys)
c.80500A>T (p.Ser26834Cys)
c.80359A>T (p.Ser26787Cys)
c.106402A>T (p.Ser35468Cys)
c.101800A>T (p.Ser33934Cys)
c.101797A>T (p.Ser33933Cys)
c.98839A>T (p.Ser32947Cys)
c.80455A>T (p.Ser26819Cys)
c.101950A>T (p.Ser33984Cys)
c.101947A>T (p.Ser33983Cys)
c.101380A>T (p.Ser33794Cys)
c.98722A>T (p.Ser32908Cys)
c.98641A>T (p.Ser32881Cys)
c.80404A>T (p.Ser26802Cys)
c.70258A>T (p.Ser23420Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527617T>CCA349400230TTN,TTN-AS1c.99805A>G (p.Ser33269Gly)
c.80890A>G (p.Ser26964Gly)
c.80689A>G (p.Ser26897Gly)
c.80314A>G (p.Ser26772Gly)
c.107509A>G (p.Ser35837Gly)
c.102586A>G (p.Ser34196Gly)
n.446+3981T>C
n.219+3981T>C
c.106606A>G (p.Ser35536Gly)
c.80500A>G (p.Ser26834Gly)
c.80359A>G (p.Ser26787Gly)
c.106402A>G (p.Ser35468Gly)
c.101800A>G (p.Ser33934Gly)
c.101797A>G (p.Ser33933Gly)
c.98839A>G (p.Ser32947Gly)
c.80455A>G (p.Ser26819Gly)
c.101950A>G (p.Ser33984Gly)
c.101947A>G (p.Ser33983Gly)
c.101380A>G (p.Ser33794Gly)
c.98722A>G (p.Ser32908Gly)
c.98641A>G (p.Ser32881Gly)
c.80404A>G (p.Ser26802Gly)
c.70258A>G (p.Ser23420Gly)
2g.178527617T>GCA349400231TTN,TTN-AS1c.99805A>C (p.Ser33269Arg)
c.80890A>C (p.Ser26964Arg)
c.80689A>C (p.Ser26897Arg)
c.80314A>C (p.Ser26772Arg)
c.107509A>C (p.Ser35837Arg)
c.102586A>C (p.Ser34196Arg)
n.446+3981T>G
n.219+3981T>G
c.106606A>C (p.Ser35536Arg)
c.80500A>C (p.Ser26834Arg)
c.80359A>C (p.Ser26787Arg)
c.106402A>C (p.Ser35468Arg)
c.101800A>C (p.Ser33934Arg)
c.101797A>C (p.Ser33933Arg)
c.98839A>C (p.Ser32947Arg)
c.80455A>C (p.Ser26819Arg)
c.101950A>C (p.Ser33984Arg)
c.101947A>C (p.Ser33983Arg)
c.101380A>C (p.Ser33794Arg)
c.98722A>C (p.Ser32908Arg)
c.98641A>C (p.Ser32881Arg)
c.80404A>C (p.Ser26802Arg)
c.70258A>C (p.Ser23420Arg)
2g.178527617T=CA1310508301TTN,TTN-AS1c.99805A= (p.Ser33269=)
c.80890A= (p.Ser26964=)
c.80689A= (p.Ser26897=)
c.80314A= (p.Ser26772=)
c.107509A= (p.Ser35837=)
c.102586A= (p.Ser34196=)
n.446+3981T=
n.219+3981T=
c.106606A= (p.Ser35536=)
c.80500A= (p.Ser26834=)
c.80359A= (p.Ser26787=)
c.106402A= (p.Ser35468=)
c.101800A= (p.Ser33934=)
c.101797A= (p.Ser33933=)
c.98839A= (p.Ser32947=)
c.80455A= (p.Ser26819=)
c.101950A= (p.Ser33984=)
c.101947A= (p.Ser33983=)
c.101380A= (p.Ser33794=)
c.98722A= (p.Ser32908=)
c.98641A= (p.Ser32881=)
c.80404A= (p.Ser26802=)
c.70258A= (p.Ser23420=)
2g.178527618G>ACA430234479TTN,TTN-AS1c.99804C>T (p.Ser33268=)
c.80889C>T (p.Ser26963=)
c.80688C>T (p.Ser26896=)
c.80313C>T (p.Ser26771=)
c.107508C>T (p.Ser35836=)
c.102585C>T (p.Ser34195=)
n.446+3982G>A
n.219+3982G>A
c.106605C>T (p.Ser35535=)
c.80499C>T (p.Ser26833=)
c.80358C>T (p.Ser26786=)
c.106401C>T (p.Ser35467=)
c.101799C>T (p.Ser33933=)
c.101796C>T (p.Ser33932=)
c.98838C>T (p.Ser32946=)
c.80454C>T (p.Ser26818=)
c.101949C>T (p.Ser33983=)
c.101946C>T (p.Ser33982=)
c.101379C>T (p.Ser33793=)
c.98721C>T (p.Ser32907=)
c.98640C>T (p.Ser32880=)
c.80403C>T (p.Ser26801=)
c.70257C>T (p.Ser23419=)
 gnomAD v4
2g.178527618G>CCA349400232TTN,TTN-AS1c.99804C>G (p.Ser33268Arg)
c.80889C>G (p.Ser26963Arg)
c.80688C>G (p.Ser26896Arg)
c.80313C>G (p.Ser26771Arg)
c.107508C>G (p.Ser35836Arg)
c.102585C>G (p.Ser34195Arg)
n.446+3982G>C
n.219+3982G>C
c.106605C>G (p.Ser35535Arg)
c.80499C>G (p.Ser26833Arg)
c.80358C>G (p.Ser26786Arg)
c.106401C>G (p.Ser35467Arg)
c.101799C>G (p.Ser33933Arg)
c.101796C>G (p.Ser33932Arg)
c.98838C>G (p.Ser32946Arg)
c.80454C>G (p.Ser26818Arg)
c.101949C>G (p.Ser33983Arg)
c.101946C>G (p.Ser33982Arg)
c.101379C>G (p.Ser33793Arg)
c.98721C>G (p.Ser32907Arg)
c.98640C>G (p.Ser32880Arg)
c.80403C>G (p.Ser26801Arg)
c.70257C>G (p.Ser23419Arg)
2g.178527618G>TCA349400233TTN,TTN-AS1c.99804C>A (p.Ser33268Arg)
c.80889C>A (p.Ser26963Arg)
c.80688C>A (p.Ser26896Arg)
c.80313C>A (p.Ser26771Arg)
c.107508C>A (p.Ser35836Arg)
c.102585C>A (p.Ser34195Arg)
n.446+3982G>T
n.219+3982G>T
c.106605C>A (p.Ser35535Arg)
c.80499C>A (p.Ser26833Arg)
c.80358C>A (p.Ser26786Arg)
c.106401C>A (p.Ser35467Arg)
c.101799C>A (p.Ser33933Arg)
c.101796C>A (p.Ser33932Arg)
c.98838C>A (p.Ser32946Arg)
c.80454C>A (p.Ser26818Arg)
c.101949C>A (p.Ser33983Arg)
c.101946C>A (p.Ser33982Arg)
c.101379C>A (p.Ser33793Arg)
c.98721C>A (p.Ser32907Arg)
c.98640C>A (p.Ser32880Arg)
c.80403C>A (p.Ser26801Arg)
c.70257C>A (p.Ser23419Arg)
2g.178527619C>ACA349400666TTN,TTN-AS1c.99803G>T (p.Ser33268Ile)
c.80888G>T (p.Ser26963Ile)
c.80687G>T (p.Ser26896Ile)
c.80312G>T (p.Ser26771Ile)
c.107507G>T (p.Ser35836Ile)
c.102584G>T (p.Ser34195Ile)
n.446+3983C>A
n.219+3983C>A
c.106604G>T (p.Ser35535Ile)
c.80498G>T (p.Ser26833Ile)
c.80357G>T (p.Ser26786Ile)
c.106400G>T (p.Ser35467Ile)
c.101798G>T (p.Ser33933Ile)
c.101795G>T (p.Ser33932Ile)
c.98837G>T (p.Ser32946Ile)
c.80453G>T (p.Ser26818Ile)
c.101948G>T (p.Ser33983Ile)
c.101945G>T (p.Ser33982Ile)
c.101378G>T (p.Ser33793Ile)
c.98720G>T (p.Ser32907Ile)
c.98639G>T (p.Ser32880Ile)
c.80402G>T (p.Ser26801Ile)
c.70256G>T (p.Ser23419Ile)
2g.178527619C>GCA349400667TTN,TTN-AS1c.99803G>C (p.Ser33268Thr)
c.80888G>C (p.Ser26963Thr)
c.80687G>C (p.Ser26896Thr)
c.80312G>C (p.Ser26771Thr)
c.107507G>C (p.Ser35836Thr)
c.102584G>C (p.Ser34195Thr)
n.446+3983C>G
n.219+3983C>G
c.106604G>C (p.Ser35535Thr)
c.80498G>C (p.Ser26833Thr)
c.80357G>C (p.Ser26786Thr)
c.106400G>C (p.Ser35467Thr)
c.101798G>C (p.Ser33933Thr)
c.101795G>C (p.Ser33932Thr)
c.98837G>C (p.Ser32946Thr)
c.80453G>C (p.Ser26818Thr)
c.101948G>C (p.Ser33983Thr)
c.101945G>C (p.Ser33982Thr)
c.101378G>C (p.Ser33793Thr)
c.98720G>C (p.Ser32907Thr)
c.98639G>C (p.Ser32880Thr)
c.80402G>C (p.Ser26801Thr)
c.70256G>C (p.Ser23419Thr)
2g.178527619C>TCA349400663TTN,TTN-AS1c.99803G>A (p.Ser33268Asn)
c.80888G>A (p.Ser26963Asn)
c.80687G>A (p.Ser26896Asn)
c.80312G>A (p.Ser26771Asn)
c.107507G>A (p.Ser35836Asn)
c.102584G>A (p.Ser34195Asn)
n.446+3983C>T
n.219+3983C>T
c.106604G>A (p.Ser35535Asn)
c.80498G>A (p.Ser26833Asn)
c.80357G>A (p.Ser26786Asn)
c.106400G>A (p.Ser35467Asn)
c.101798G>A (p.Ser33933Asn)
c.101795G>A (p.Ser33932Asn)
c.98837G>A (p.Ser32946Asn)
c.80453G>A (p.Ser26818Asn)
c.101948G>A (p.Ser33983Asn)
c.101945G>A (p.Ser33982Asn)
c.101378G>A (p.Ser33793Asn)
c.98720G>A (p.Ser32907Asn)
c.98639G>A (p.Ser32880Asn)
c.80402G>A (p.Ser26801Asn)
c.70256G>A (p.Ser23419Asn)
2g.178527620T>ACA349400669TTN,TTN-AS1c.99802A>T (p.Ser33268Cys)
c.80887A>T (p.Ser26963Cys)
c.80686A>T (p.Ser26896Cys)
c.80311A>T (p.Ser26771Cys)
c.107506A>T (p.Ser35836Cys)
c.102583A>T (p.Ser34195Cys)
n.446+3984T>A
n.219+3984T>A
c.106603A>T (p.Ser35535Cys)
c.80497A>T (p.Ser26833Cys)
c.80356A>T (p.Ser26786Cys)
c.106399A>T (p.Ser35467Cys)
c.101797A>T (p.Ser33933Cys)
c.101794A>T (p.Ser33932Cys)
c.98836A>T (p.Ser32946Cys)
c.80452A>T (p.Ser26818Cys)
c.101947A>T (p.Ser33983Cys)
c.101944A>T (p.Ser33982Cys)
c.101377A>T (p.Ser33793Cys)
c.98719A>T (p.Ser32907Cys)
c.98638A>T (p.Ser32880Cys)
c.80401A>T (p.Ser26801Cys)
c.70255A>T (p.Ser23419Cys)
2g.178527620T>CCA349400671TTN,TTN-AS1c.99802A>G (p.Ser33268Gly)
c.80887A>G (p.Ser26963Gly)
c.80686A>G (p.Ser26896Gly)
c.80311A>G (p.Ser26771Gly)
c.107506A>G (p.Ser35836Gly)
c.102583A>G (p.Ser34195Gly)
n.446+3984T>C
n.219+3984T>C
c.106603A>G (p.Ser35535Gly)
c.80497A>G (p.Ser26833Gly)
c.80356A>G (p.Ser26786Gly)
c.106399A>G (p.Ser35467Gly)
c.101797A>G (p.Ser33933Gly)
c.101794A>G (p.Ser33932Gly)
c.98836A>G (p.Ser32946Gly)
c.80452A>G (p.Ser26818Gly)
c.101947A>G (p.Ser33983Gly)
c.101944A>G (p.Ser33982Gly)
c.101377A>G (p.Ser33793Gly)
c.98719A>G (p.Ser32907Gly)
c.98638A>G (p.Ser32880Gly)
c.80401A>G (p.Ser26801Gly)
c.70255A>G (p.Ser23419Gly)
2g.178527620T>GCA349400670TTN,TTN-AS1c.99802A>C (p.Ser33268Arg)
c.80887A>C (p.Ser26963Arg)
c.80686A>C (p.Ser26896Arg)
c.80311A>C (p.Ser26771Arg)
c.107506A>C (p.Ser35836Arg)
c.102583A>C (p.Ser34195Arg)
n.446+3984T>G
n.219+3984T>G
c.106603A>C (p.Ser35535Arg)
c.80497A>C (p.Ser26833Arg)
c.80356A>C (p.Ser26786Arg)
c.106399A>C (p.Ser35467Arg)
c.101797A>C (p.Ser33933Arg)
c.101794A>C (p.Ser33932Arg)
c.98836A>C (p.Ser32946Arg)
c.80452A>C (p.Ser26818Arg)
c.101947A>C (p.Ser33983Arg)
c.101944A>C (p.Ser33982Arg)
c.101377A>C (p.Ser33793Arg)
c.98719A>C (p.Ser32907Arg)
c.98638A>C (p.Ser32880Arg)
c.80401A>C (p.Ser26801Arg)
c.70255A>C (p.Ser23419Arg)
 ClinVar dbSNP gnomAD v4
2g.178527620T=CA1310508303TTN,TTN-AS1c.99802A= (p.Ser33268=)
c.80887A= (p.Ser26963=)
c.80686A= (p.Ser26896=)
c.80311A= (p.Ser26771=)
c.107506A= (p.Ser35836=)
c.102583A= (p.Ser34195=)
n.446+3984T=
n.219+3984T=
c.106603A= (p.Ser35535=)
c.80497A= (p.Ser26833=)
c.80356A= (p.Ser26786=)
c.106399A= (p.Ser35467=)
c.101797A= (p.Ser33933=)
c.101794A= (p.Ser33932=)
c.98836A= (p.Ser32946=)
c.80452A= (p.Ser26818=)
c.101947A= (p.Ser33983=)
c.101944A= (p.Ser33982=)
c.101377A= (p.Ser33793=)
c.98719A= (p.Ser32907=)
c.98638A= (p.Ser32880=)
c.80401A= (p.Ser26801=)
c.70255A= (p.Ser23419=)
2g.178527620_178527621delCA2753331292TTN,TTN-AS1c.99801_99802del (p.Phe33267LeufsTer6)
c.80886_80887del (p.Phe26962LeufsTer6)
c.80685_80686del (p.Phe26895LeufsTer6)
c.80310_80311del (p.Phe26770LeufsTer6)
c.107505_107506del (p.Phe35835LeufsTer6)
c.102582_102583del (p.Phe34194LeufsTer6)
n.446+3984_446+3985del
n.219+3984_219+3985del
c.106602_106603del (p.Phe35534LeufsTer6)
c.80496_80497del (p.Phe26832LeufsTer6)
c.80355_80356del (p.Phe26785LeufsTer6)
c.106398_106399del (p.Phe35466LeufsTer6)
c.101796_101797del (p.Phe33932LeufsTer6)
c.101793_101794del (p.Phe33931LeufsTer6)
c.98835_98836del (p.Phe32945LeufsTer6)
c.80451_80452del (p.Phe26817LeufsTer6)
c.101946_101947del (p.Phe33982LeufsTer6)
c.101943_101944del (p.Phe33981LeufsTer6)
c.101376_101377del (p.Phe33792LeufsTer6)
c.98718_98719del (p.Phe32906LeufsTer6)
c.98637_98638del (p.Phe32879LeufsTer6)
c.80400_80401del (p.Phe26800LeufsTer6)
c.70254_70255del (p.Phe23418LeufsTer6)
2g.178527621G>ACA430092091TTN,TTN-AS1c.99801C>T (p.Phe33267=)
c.80886C>T (p.Phe26962=)
c.80685C>T (p.Phe26895=)
c.80310C>T (p.Phe26770=)
c.107505C>T (p.Phe35835=)
c.102582C>T (p.Phe34194=)
n.446+3985G>A
n.219+3985G>A
c.106602C>T (p.Phe35534=)
c.80496C>T (p.Phe26832=)
c.80355C>T (p.Phe26785=)
c.106398C>T (p.Phe35466=)
c.101796C>T (p.Phe33932=)
c.101793C>T (p.Phe33931=)
c.98835C>T (p.Phe32945=)
c.80451C>T (p.Phe26817=)
c.101946C>T (p.Phe33982=)
c.101943C>T (p.Phe33981=)
c.101376C>T (p.Phe33792=)
c.98718C>T (p.Phe32906=)
c.98637C>T (p.Phe32879=)
c.80400C>T (p.Phe26800=)
c.70254C>T (p.Phe23418=)
2g.178527621G>CCA349400674TTN,TTN-AS1c.99801C>G (p.Phe33267Leu)
c.80886C>G (p.Phe26962Leu)
c.80685C>G (p.Phe26895Leu)
c.80310C>G (p.Phe26770Leu)
c.107505C>G (p.Phe35835Leu)
c.102582C>G (p.Phe34194Leu)
n.446+3985G>C
n.219+3985G>C
c.106602C>G (p.Phe35534Leu)
c.80496C>G (p.Phe26832Leu)
c.80355C>G (p.Phe26785Leu)
c.106398C>G (p.Phe35466Leu)
c.101796C>G (p.Phe33932Leu)
c.101793C>G (p.Phe33931Leu)
c.98835C>G (p.Phe32945Leu)
c.80451C>G (p.Phe26817Leu)
c.101946C>G (p.Phe33982Leu)
c.101943C>G (p.Phe33981Leu)
c.101376C>G (p.Phe33792Leu)
c.98718C>G (p.Phe32906Leu)
c.98637C>G (p.Phe32879Leu)
c.80400C>G (p.Phe26800Leu)
c.70254C>G (p.Phe23418Leu)
2g.178527621G>TCA349400676TTN,TTN-AS1c.99801C>A (p.Phe33267Leu)
c.80886C>A (p.Phe26962Leu)
c.80685C>A (p.Phe26895Leu)
c.80310C>A (p.Phe26770Leu)
c.107505C>A (p.Phe35835Leu)
c.102582C>A (p.Phe34194Leu)
n.446+3985G>T
n.219+3985G>T
c.106602C>A (p.Phe35534Leu)
c.80496C>A (p.Phe26832Leu)
c.80355C>A (p.Phe26785Leu)
c.106398C>A (p.Phe35466Leu)
c.101796C>A (p.Phe33932Leu)
c.101793C>A (p.Phe33931Leu)
c.98835C>A (p.Phe32945Leu)
c.80451C>A (p.Phe26817Leu)
c.101946C>A (p.Phe33982Leu)
c.101943C>A (p.Phe33981Leu)
c.101376C>A (p.Phe33792Leu)
c.98718C>A (p.Phe32906Leu)
c.98637C>A (p.Phe32879Leu)
c.80400C>A (p.Phe26800Leu)
c.70254C>A (p.Phe23418Leu)
2g.178527622A=CA1310508305TTN,TTN-AS1c.99800T= (p.Phe33267=)
c.80885T= (p.Phe26962=)
c.80684T= (p.Phe26895=)
c.80309T= (p.Phe26770=)
c.107504T= (p.Phe35835=)
c.102581T= (p.Phe34194=)
n.446+3986A=
n.219+3986A=
c.106601T= (p.Phe35534=)
c.80495T= (p.Phe26832=)
c.80354T= (p.Phe26785=)
c.106397T= (p.Phe35466=)
c.101795T= (p.Phe33932=)
c.101792T= (p.Phe33931=)
c.98834T= (p.Phe32945=)
c.80450T= (p.Phe26817=)
c.101945T= (p.Phe33982=)
c.101942T= (p.Phe33981=)
c.101375T= (p.Phe33792=)
c.98717T= (p.Phe32906=)
c.98636T= (p.Phe32879=)
c.80399T= (p.Phe26800=)
c.70253T= (p.Phe23418=)
2g.178527622A>CCA349400678TTN,TTN-AS1c.99800T>G (p.Phe33267Cys)
c.80885T>G (p.Phe26962Cys)
c.80684T>G (p.Phe26895Cys)
c.80309T>G (p.Phe26770Cys)
c.107504T>G (p.Phe35835Cys)
c.102581T>G (p.Phe34194Cys)
n.446+3986A>C
n.219+3986A>C
c.106601T>G (p.Phe35534Cys)
c.80495T>G (p.Phe26832Cys)
c.80354T>G (p.Phe26785Cys)
c.106397T>G (p.Phe35466Cys)
c.101795T>G (p.Phe33932Cys)
c.101792T>G (p.Phe33931Cys)
c.98834T>G (p.Phe32945Cys)
c.80450T>G (p.Phe26817Cys)
c.101945T>G (p.Phe33982Cys)
c.101942T>G (p.Phe33981Cys)
c.101375T>G (p.Phe33792Cys)
c.98717T>G (p.Phe32906Cys)
c.98636T>G (p.Phe32879Cys)
c.80399T>G (p.Phe26800Cys)
c.70253T>G (p.Phe23418Cys)
 ClinVar dbSNP gnomAD v4
2g.178527622A>GCA349400680TTN,TTN-AS1c.99800T>C (p.Phe33267Ser)
c.80885T>C (p.Phe26962Ser)
c.80684T>C (p.Phe26895Ser)
c.80309T>C (p.Phe26770Ser)
c.107504T>C (p.Phe35835Ser)
c.102581T>C (p.Phe34194Ser)
n.446+3986A>G
n.219+3986A>G
c.106601T>C (p.Phe35534Ser)
c.80495T>C (p.Phe26832Ser)
c.80354T>C (p.Phe26785Ser)
c.106397T>C (p.Phe35466Ser)
c.101795T>C (p.Phe33932Ser)
c.101792T>C (p.Phe33931Ser)
c.98834T>C (p.Phe32945Ser)
c.80450T>C (p.Phe26817Ser)
c.101945T>C (p.Phe33982Ser)
c.101942T>C (p.Phe33981Ser)
c.101375T>C (p.Phe33792Ser)
c.98717T>C (p.Phe32906Ser)
c.98636T>C (p.Phe32879Ser)
c.80399T>C (p.Phe26800Ser)
c.70253T>C (p.Phe23418Ser)
2g.178527622A>TCA349400682TTN,TTN-AS1c.99800T>A (p.Phe33267Tyr)
c.80885T>A (p.Phe26962Tyr)
c.80684T>A (p.Phe26895Tyr)
c.80309T>A (p.Phe26770Tyr)
c.107504T>A (p.Phe35835Tyr)
c.102581T>A (p.Phe34194Tyr)
n.446+3986A>T
n.219+3986A>T
c.106601T>A (p.Phe35534Tyr)
c.80495T>A (p.Phe26832Tyr)
c.80354T>A (p.Phe26785Tyr)
c.106397T>A (p.Phe35466Tyr)
c.101795T>A (p.Phe33932Tyr)
c.101792T>A (p.Phe33931Tyr)
c.98834T>A (p.Phe32945Tyr)
c.80450T>A (p.Phe26817Tyr)
c.101945T>A (p.Phe33982Tyr)
c.101942T>A (p.Phe33981Tyr)
c.101375T>A (p.Phe33792Tyr)
c.98717T>A (p.Phe32906Tyr)
c.98636T>A (p.Phe32879Tyr)
c.80399T>A (p.Phe26800Tyr)
c.70253T>A (p.Phe23418Tyr)
2g.178527623A>CCA349400684TTN,TTN-AS1c.99799T>G (p.Phe33267Val)
c.80884T>G (p.Phe26962Val)
c.80683T>G (p.Phe26895Val)
c.80308T>G (p.Phe26770Val)
c.107503T>G (p.Phe35835Val)
c.102580T>G (p.Phe34194Val)
n.446+3987A>C
n.219+3987A>C
c.106600T>G (p.Phe35534Val)
c.80494T>G (p.Phe26832Val)
c.80353T>G (p.Phe26785Val)
c.106396T>G (p.Phe35466Val)
c.101794T>G (p.Phe33932Val)
c.101791T>G (p.Phe33931Val)
c.98833T>G (p.Phe32945Val)
c.80449T>G (p.Phe26817Val)
c.101944T>G (p.Phe33982Val)
c.101941T>G (p.Phe33981Val)
c.101374T>G (p.Phe33792Val)
c.98716T>G (p.Phe32906Val)
c.98635T>G (p.Phe32879Val)
c.80398T>G (p.Phe26800Val)
c.70252T>G (p.Phe23418Val)
2g.178527623A>GCA349400686TTN,TTN-AS1c.99799T>C (p.Phe33267Leu)
c.80884T>C (p.Phe26962Leu)
c.80683T>C (p.Phe26895Leu)
c.80308T>C (p.Phe26770Leu)
c.107503T>C (p.Phe35835Leu)
c.102580T>C (p.Phe34194Leu)
n.446+3987A>G
n.219+3987A>G
c.106600T>C (p.Phe35534Leu)
c.80494T>C (p.Phe26832Leu)
c.80353T>C (p.Phe26785Leu)
c.106396T>C (p.Phe35466Leu)
c.101794T>C (p.Phe33932Leu)
c.101791T>C (p.Phe33931Leu)
c.98833T>C (p.Phe32945Leu)
c.80449T>C (p.Phe26817Leu)
c.101944T>C (p.Phe33982Leu)
c.101941T>C (p.Phe33981Leu)
c.101374T>C (p.Phe33792Leu)
c.98716T>C (p.Phe32906Leu)
c.98635T>C (p.Phe32879Leu)
c.80398T>C (p.Phe26800Leu)
c.70252T>C (p.Phe23418Leu)
 gnomAD v4
2g.178527623A>TCA349400687TTN,TTN-AS1c.99799T>A (p.Phe33267Ile)
c.80884T>A (p.Phe26962Ile)
c.80683T>A (p.Phe26895Ile)
c.80308T>A (p.Phe26770Ile)
c.107503T>A (p.Phe35835Ile)
c.102580T>A (p.Phe34194Ile)
n.446+3987A>T
n.219+3987A>T
c.106600T>A (p.Phe35534Ile)
c.80494T>A (p.Phe26832Ile)
c.80353T>A (p.Phe26785Ile)
c.106396T>A (p.Phe35466Ile)
c.101794T>A (p.Phe33932Ile)
c.101791T>A (p.Phe33931Ile)
c.98833T>A (p.Phe32945Ile)
c.80449T>A (p.Phe26817Ile)
c.101944T>A (p.Phe33982Ile)
c.101941T>A (p.Phe33981Ile)
c.101374T>A (p.Phe33792Ile)
c.98716T>A (p.Phe32906Ile)
c.98635T>A (p.Phe32879Ile)
c.80398T>A (p.Phe26800Ile)
c.70252T>A (p.Phe23418Ile)
2g.178527624A=CA1310508309TTN,TTN-AS1c.99798T= (p.Ser33266=)
c.80883T= (p.Ser26961=)
c.80682T= (p.Ser26894=)
c.80307T= (p.Ser26769=)
c.107502T= (p.Ser35834=)
c.102579T= (p.Ser34193=)
n.446+3988A=
n.219+3988A=
c.106599T= (p.Ser35533=)
c.80493T= (p.Ser26831=)
c.80352T= (p.Ser26784=)
c.106395T= (p.Ser35465=)
c.101793T= (p.Ser33931=)
c.101790T= (p.Ser33930=)
c.98832T= (p.Ser32944=)
c.80448T= (p.Ser26816=)
c.101943T= (p.Ser33981=)
c.101940T= (p.Ser33980=)
c.101373T= (p.Ser33791=)
c.98715T= (p.Ser32905=)
c.98634T= (p.Ser32878=)
c.80397T= (p.Ser26799=)
c.70251T= (p.Ser23417=)
2g.178527624A>CCA349400689TTN,TTN-AS1c.99798T>G (p.Ser33266Arg)
c.80883T>G (p.Ser26961Arg)
c.80682T>G (p.Ser26894Arg)
c.80307T>G (p.Ser26769Arg)
c.107502T>G (p.Ser35834Arg)
c.102579T>G (p.Ser34193Arg)
n.446+3988A>C
n.219+3988A>C
c.106599T>G (p.Ser35533Arg)
c.80493T>G (p.Ser26831Arg)
c.80352T>G (p.Ser26784Arg)
c.106395T>G (p.Ser35465Arg)
c.101793T>G (p.Ser33931Arg)
c.101790T>G (p.Ser33930Arg)
c.98832T>G (p.Ser32944Arg)
c.80448T>G (p.Ser26816Arg)
c.101943T>G (p.Ser33981Arg)
c.101940T>G (p.Ser33980Arg)
c.101373T>G (p.Ser33791Arg)
c.98715T>G (p.Ser32905Arg)
c.98634T>G (p.Ser32878Arg)
c.80397T>G (p.Ser26799Arg)
c.70251T>G (p.Ser23417Arg)
2g.178527624A>GCA430092103TTN,TTN-AS1c.99798T>C (p.Ser33266=)
c.80883T>C (p.Ser26961=)
c.80682T>C (p.Ser26894=)
c.80307T>C (p.Ser26769=)
c.107502T>C (p.Ser35834=)
c.102579T>C (p.Ser34193=)
n.446+3988A>G
n.219+3988A>G
c.106599T>C (p.Ser35533=)
c.80493T>C (p.Ser26831=)
c.80352T>C (p.Ser26784=)
c.106395T>C (p.Ser35465=)
c.101793T>C (p.Ser33931=)
c.101790T>C (p.Ser33930=)
c.98832T>C (p.Ser32944=)
c.80448T>C (p.Ser26816=)
c.101943T>C (p.Ser33981=)
c.101940T>C (p.Ser33980=)
c.101373T>C (p.Ser33791=)
c.98715T>C (p.Ser32905=)
c.98634T>C (p.Ser32878=)
c.80397T>C (p.Ser26799=)
c.70251T>C (p.Ser23417=)
 dbSNP
2g.178527624A>TCA349400691TTN,TTN-AS1c.99798T>A (p.Ser33266Arg)
c.80883T>A (p.Ser26961Arg)
c.80682T>A (p.Ser26894Arg)
c.80307T>A (p.Ser26769Arg)
c.107502T>A (p.Ser35834Arg)
c.102579T>A (p.Ser34193Arg)
n.446+3988A>T
n.219+3988A>T
c.106599T>A (p.Ser35533Arg)
c.80493T>A (p.Ser26831Arg)
c.80352T>A (p.Ser26784Arg)
c.106395T>A (p.Ser35465Arg)
c.101793T>A (p.Ser33931Arg)
c.101790T>A (p.Ser33930Arg)
c.98832T>A (p.Ser32944Arg)
c.80448T>A (p.Ser26816Arg)
c.101943T>A (p.Ser33981Arg)
c.101940T>A (p.Ser33980Arg)
c.101373T>A (p.Ser33791Arg)
c.98715T>A (p.Ser32905Arg)
c.98634T>A (p.Ser32878Arg)
c.80397T>A (p.Ser26799Arg)
c.70251T>A (p.Ser23417Arg)
2g.178527624_178527626delCA2753331293TTN,TTN-AS1c.99796_99798del (p.Ser33266del)
c.80881_80883del (p.Ser26961del)
c.80680_80682del (p.Ser26894del)
c.80305_80307del (p.Ser26769del)
c.107500_107502del (p.Ser35834del)
c.102577_102579del (p.Ser34193del)
n.446+3988_446+3990del
n.219+3988_219+3990del
c.106597_106599del (p.Ser35533del)
c.80491_80493del (p.Ser26831del)
c.80350_80352del (p.Ser26784del)
c.106393_106395del (p.Ser35465del)
c.101791_101793del (p.Ser33931del)
c.101788_101790del (p.Ser33930del)
c.98830_98832del (p.Ser32944del)
c.80446_80448del (p.Ser26816del)
c.101941_101943del (p.Ser33981del)
c.101938_101940del (p.Ser33980del)
c.101371_101373del (p.Ser33791del)
c.98713_98715del (p.Ser32905del)
c.98632_98634del (p.Ser32878del)
c.80395_80397del (p.Ser26799del)
c.70249_70251del (p.Ser23417del)
2g.178527625delCA2662122449TTN,TTN-AS1c.99797del (p.Ser33266IlefsTer10)
c.80882del (p.Ser26961IlefsTer10)
c.80681del (p.Ser26894IlefsTer10)
c.80306del (p.Ser26769IlefsTer10)
c.107501del (p.Ser35834IlefsTer10)
c.102578del (p.Ser34193IlefsTer10)
n.446+3989del
n.219+3989del
c.106598del (p.Ser35533IlefsTer10)
c.80492del (p.Ser26831IlefsTer10)
c.80351del (p.Ser26784IlefsTer10)
c.106394del (p.Ser35465IlefsTer10)
c.101792del (p.Ser33931IlefsTer10)
c.101789del (p.Ser33930IlefsTer10)
c.98831del (p.Ser32944IlefsTer10)
c.80447del (p.Ser26816IlefsTer10)
c.101942del (p.Ser33981IlefsTer10)
c.101939del (p.Ser33980IlefsTer10)
c.101372del (p.Ser33791IlefsTer10)
c.98714del (p.Ser32905IlefsTer10)
c.98633del (p.Ser32878IlefsTer10)
c.80396del (p.Ser26799IlefsTer10)
c.70250del (p.Ser23417IlefsTer10)
 gnomAD v4
2g.178527625C>ACA349400693TTN,TTN-AS1c.99797G>T (p.Ser33266Ile)
c.80882G>T (p.Ser26961Ile)
c.80681G>T (p.Ser26894Ile)
c.80306G>T (p.Ser26769Ile)
c.107501G>T (p.Ser35834Ile)
c.102578G>T (p.Ser34193Ile)
n.446+3989C>A
n.219+3989C>A
c.106598G>T (p.Ser35533Ile)
c.80492G>T (p.Ser26831Ile)
c.80351G>T (p.Ser26784Ile)
c.106394G>T (p.Ser35465Ile)
c.101792G>T (p.Ser33931Ile)
c.101789G>T (p.Ser33930Ile)
c.98831G>T (p.Ser32944Ile)
c.80447G>T (p.Ser26816Ile)
c.101942G>T (p.Ser33981Ile)
c.101939G>T (p.Ser33980Ile)
c.101372G>T (p.Ser33791Ile)
c.98714G>T (p.Ser32905Ile)
c.98633G>T (p.Ser32878Ile)
c.80396G>T (p.Ser26799Ile)
c.70250G>T (p.Ser23417Ile)
2g.178527625C=CA1310508310TTN,TTN-AS1c.99797G= (p.Ser33266=)
c.80882G= (p.Ser26961=)
c.80681G= (p.Ser26894=)
c.80306G= (p.Ser26769=)
c.107501G= (p.Ser35834=)
c.102578G= (p.Ser34193=)
n.446+3989C=
n.219+3989C=
c.106598G= (p.Ser35533=)
c.80492G= (p.Ser26831=)
c.80351G= (p.Ser26784=)
c.106394G= (p.Ser35465=)
c.101792G= (p.Ser33931=)
c.101789G= (p.Ser33930=)
c.98831G= (p.Ser32944=)
c.80447G= (p.Ser26816=)
c.101942G= (p.Ser33981=)
c.101939G= (p.Ser33980=)
c.101372G= (p.Ser33791=)
c.98714G= (p.Ser32905=)
c.98633G= (p.Ser32878=)
c.80396G= (p.Ser26799=)
c.70250G= (p.Ser23417=)
2g.178527625C>GCA349400695TTN,TTN-AS1c.99797G>C (p.Ser33266Thr)
c.80882G>C (p.Ser26961Thr)
c.80681G>C (p.Ser26894Thr)
c.80306G>C (p.Ser26769Thr)
c.107501G>C (p.Ser35834Thr)
c.102578G>C (p.Ser34193Thr)
n.446+3989C>G
n.219+3989C>G
c.106598G>C (p.Ser35533Thr)
c.80492G>C (p.Ser26831Thr)
c.80351G>C (p.Ser26784Thr)
c.106394G>C (p.Ser35465Thr)
c.101792G>C (p.Ser33931Thr)
c.101789G>C (p.Ser33930Thr)
c.98831G>C (p.Ser32944Thr)
c.80447G>C (p.Ser26816Thr)
c.101942G>C (p.Ser33981Thr)
c.101939G>C (p.Ser33980Thr)
c.101372G>C (p.Ser33791Thr)
c.98714G>C (p.Ser32905Thr)
c.98633G>C (p.Ser32878Thr)
c.80396G>C (p.Ser26799Thr)
c.70250G>C (p.Ser23417Thr)
2g.178527625C>TCA349400696TTN,TTN-AS1c.99797G>A (p.Ser33266Asn)
c.80882G>A (p.Ser26961Asn)
c.80681G>A (p.Ser26894Asn)
c.80306G>A (p.Ser26769Asn)
c.107501G>A (p.Ser35834Asn)
c.102578G>A (p.Ser34193Asn)
n.446+3989C>T
n.219+3989C>T
c.106598G>A (p.Ser35533Asn)
c.80492G>A (p.Ser26831Asn)
c.80351G>A (p.Ser26784Asn)
c.106394G>A (p.Ser35465Asn)
c.101792G>A (p.Ser33931Asn)
c.101789G>A (p.Ser33930Asn)
c.98831G>A (p.Ser32944Asn)
c.80447G>A (p.Ser26816Asn)
c.101942G>A (p.Ser33981Asn)
c.101939G>A (p.Ser33980Asn)
c.101372G>A (p.Ser33791Asn)
c.98714G>A (p.Ser32905Asn)
c.98633G>A (p.Ser32878Asn)
c.80396G>A (p.Ser26799Asn)
c.70250G>A (p.Ser23417Asn)
 dbSNP
2g.178527626T>ACA349400702TTN,TTN-AS1c.99796A>T (p.Ser33266Cys)
c.80881A>T (p.Ser26961Cys)
c.80680A>T (p.Ser26894Cys)
c.80305A>T (p.Ser26769Cys)
c.107500A>T (p.Ser35834Cys)
c.102577A>T (p.Ser34193Cys)
n.446+3990T>A
n.219+3990T>A
c.106597A>T (p.Ser35533Cys)
c.80491A>T (p.Ser26831Cys)
c.80350A>T (p.Ser26784Cys)
c.106393A>T (p.Ser35465Cys)
c.101791A>T (p.Ser33931Cys)
c.101788A>T (p.Ser33930Cys)
c.98830A>T (p.Ser32944Cys)
c.80446A>T (p.Ser26816Cys)
c.101941A>T (p.Ser33981Cys)
c.101938A>T (p.Ser33980Cys)
c.101371A>T (p.Ser33791Cys)
c.98713A>T (p.Ser32905Cys)
c.98632A>T (p.Ser32878Cys)
c.80395A>T (p.Ser26799Cys)
c.70249A>T (p.Ser23417Cys)
2g.178527626T>CCA349400698TTN,TTN-AS1c.99796A>G (p.Ser33266Gly)
c.80881A>G (p.Ser26961Gly)
c.80680A>G (p.Ser26894Gly)
c.80305A>G (p.Ser26769Gly)
c.107500A>G (p.Ser35834Gly)
c.102577A>G (p.Ser34193Gly)
n.446+3990T>C
n.219+3990T>C
c.106597A>G (p.Ser35533Gly)
c.80491A>G (p.Ser26831Gly)
c.80350A>G (p.Ser26784Gly)
c.106393A>G (p.Ser35465Gly)
c.101791A>G (p.Ser33931Gly)
c.101788A>G (p.Ser33930Gly)
c.98830A>G (p.Ser32944Gly)
c.80446A>G (p.Ser26816Gly)
c.101941A>G (p.Ser33981Gly)
c.101938A>G (p.Ser33980Gly)
c.101371A>G (p.Ser33791Gly)
c.98713A>G (p.Ser32905Gly)
c.98632A>G (p.Ser32878Gly)
c.80395A>G (p.Ser26799Gly)
c.70249A>G (p.Ser23417Gly)
2g.178527626T>GCA349400700TTN,TTN-AS1c.99796A>C (p.Ser33266Arg)
c.80881A>C (p.Ser26961Arg)
c.80680A>C (p.Ser26894Arg)
c.80305A>C (p.Ser26769Arg)
c.107500A>C (p.Ser35834Arg)
c.102577A>C (p.Ser34193Arg)
n.446+3990T>G
n.219+3990T>G
c.106597A>C (p.Ser35533Arg)
c.80491A>C (p.Ser26831Arg)
c.80350A>C (p.Ser26784Arg)
c.106393A>C (p.Ser35465Arg)
c.101791A>C (p.Ser33931Arg)
c.101788A>C (p.Ser33930Arg)
c.98830A>C (p.Ser32944Arg)
c.80446A>C (p.Ser26816Arg)
c.101941A>C (p.Ser33981Arg)
c.101938A>C (p.Ser33980Arg)
c.101371A>C (p.Ser33791Arg)
c.98713A>C (p.Ser32905Arg)
c.98632A>C (p.Ser32878Arg)
c.80395A>C (p.Ser26799Arg)
c.70249A>C (p.Ser23417Arg)
2g.178527627G>ACA430092118TTN,TTN-AS1c.99795C>T (p.Ser33265=)
c.80880C>T (p.Ser26960=)
c.80679C>T (p.Ser26893=)
c.80304C>T (p.Ser26768=)
c.107499C>T (p.Ser35833=)
c.102576C>T (p.Ser34192=)
n.446+3991G>A
n.219+3991G>A
c.106596C>T (p.Ser35532=)
c.80490C>T (p.Ser26830=)
c.80349C>T (p.Ser26783=)
c.106392C>T (p.Ser35464=)
c.101790C>T (p.Ser33930=)
c.101787C>T (p.Ser33929=)
c.98829C>T (p.Ser32943=)
c.80445C>T (p.Ser26815=)
c.101940C>T (p.Ser33980=)
c.101937C>T (p.Ser33979=)
c.101370C>T (p.Ser33790=)
c.98712C>T (p.Ser32904=)
c.98631C>T (p.Ser32877=)
c.80394C>T (p.Ser26798=)
c.70248C>T (p.Ser23416=)
2g.178527627G>CCA349400704TTN,TTN-AS1c.99795C>G (p.Ser33265Arg)
c.80880C>G (p.Ser26960Arg)
c.80679C>G (p.Ser26893Arg)
c.80304C>G (p.Ser26768Arg)
c.107499C>G (p.Ser35833Arg)
c.102576C>G (p.Ser34192Arg)
n.446+3991G>C
n.219+3991G>C
c.106596C>G (p.Ser35532Arg)
c.80490C>G (p.Ser26830Arg)
c.80349C>G (p.Ser26783Arg)
c.106392C>G (p.Ser35464Arg)
c.101790C>G (p.Ser33930Arg)
c.101787C>G (p.Ser33929Arg)
c.98829C>G (p.Ser32943Arg)
c.80445C>G (p.Ser26815Arg)
c.101940C>G (p.Ser33980Arg)
c.101937C>G (p.Ser33979Arg)
c.101370C>G (p.Ser33790Arg)
c.98712C>G (p.Ser32904Arg)
c.98631C>G (p.Ser32877Arg)
c.80394C>G (p.Ser26798Arg)
c.70248C>G (p.Ser23416Arg)
2g.178527627G>TCA349400705TTN,TTN-AS1c.99795C>A (p.Ser33265Arg)
c.80880C>A (p.Ser26960Arg)
c.80679C>A (p.Ser26893Arg)
c.80304C>A (p.Ser26768Arg)
c.107499C>A (p.Ser35833Arg)
c.102576C>A (p.Ser34192Arg)
n.446+3991G>T
n.219+3991G>T
c.106596C>A (p.Ser35532Arg)
c.80490C>A (p.Ser26830Arg)
c.80349C>A (p.Ser26783Arg)
c.106392C>A (p.Ser35464Arg)
c.101790C>A (p.Ser33930Arg)
c.101787C>A (p.Ser33929Arg)
c.98829C>A (p.Ser32943Arg)
c.80445C>A (p.Ser26815Arg)
c.101940C>A (p.Ser33980Arg)
c.101937C>A (p.Ser33979Arg)
c.101370C>A (p.Ser33790Arg)
c.98712C>A (p.Ser32904Arg)
c.98631C>A (p.Ser32877Arg)
c.80394C>A (p.Ser26798Arg)
c.70248C>A (p.Ser23416Arg)
2g.178527627_178527628delinsGCCA1310508315TTN,TTN-AS1c.99794_99795delinsGC (p.Ser33265=)
c.80879_80880delinsGC (p.Ser26960=)
c.80678_80679delinsGC (p.Ser26893=)
c.80303_80304delinsGC (p.Ser26768=)
c.107498_107499delinsGC (p.Ser35833=)
c.102575_102576delinsGC (p.Ser34192=)
n.446+3991_446+3992delinsGC
n.219+3991_219+3992delinsGC
c.106595_106596delinsGC (p.Ser35532=)
c.80489_80490delinsGC (p.Ser26830=)
c.80348_80349delinsGC (p.Ser26783=)
c.106391_106392delinsGC (p.Ser35464=)
c.101789_101790delinsGC (p.Ser33930=)
c.101786_101787delinsGC (p.Ser33929=)
c.98828_98829delinsGC (p.Ser32943=)
c.80444_80445delinsGC (p.Ser26815=)
c.101939_101940delinsGC (p.Ser33980=)
c.101936_101937delinsGC (p.Ser33979=)
c.101369_101370delinsGC (p.Ser33790=)
c.98711_98712delinsGC (p.Ser32904=)
c.98630_98631delinsGC (p.Ser32877=)
c.80393_80394delinsGC (p.Ser26798=)
c.70247_70248delinsGC (p.Ser23416=)
2g.178527627_178527628delinsTTCA1139657376TTN,TTN-AS1c.99794_99795delinsAA (p.Ser33265Lys)
c.80879_80880delinsAA (p.Ser26960Lys)
c.80678_80679delinsAA (p.Ser26893Lys)
c.80303_80304delinsAA (p.Ser26768Lys)
c.107498_107499delinsAA (p.Ser35833Lys)
c.102575_102576delinsAA (p.Ser34192Lys)
n.446+3991_446+3992delinsTT
n.219+3991_219+3992delinsTT
c.106595_106596delinsAA (p.Ser35532Lys)
c.80489_80490delinsAA (p.Ser26830Lys)
c.80348_80349delinsAA (p.Ser26783Lys)
c.106391_106392delinsAA (p.Ser35464Lys)
c.101789_101790delinsAA (p.Ser33930Lys)
c.101786_101787delinsAA (p.Ser33929Lys)
c.98828_98829delinsAA (p.Ser32943Lys)
c.80444_80445delinsAA (p.Ser26815Lys)
c.101939_101940delinsAA (p.Ser33980Lys)
c.101936_101937delinsAA (p.Ser33979Lys)
c.101369_101370delinsAA (p.Ser33790Lys)
c.98711_98712delinsAA (p.Ser32904Lys)
c.98630_98631delinsAA (p.Ser32877Lys)
c.80393_80394delinsAA (p.Ser26798Lys)
c.70247_70248delinsAA (p.Ser23416Lys)
 ClinVar dbSNP
2g.178527628C>ACA349400707TTN,TTN-AS1c.99794G>T (p.Ser33265Ile)
c.80879G>T (p.Ser26960Ile)
c.80678G>T (p.Ser26893Ile)
c.80303G>T (p.Ser26768Ile)
c.107498G>T (p.Ser35833Ile)
c.102575G>T (p.Ser34192Ile)
n.446+3992C>A
n.219+3992C>A
c.106595G>T (p.Ser35532Ile)
c.80489G>T (p.Ser26830Ile)
c.80348G>T (p.Ser26783Ile)
c.106391G>T (p.Ser35464Ile)
c.101789G>T (p.Ser33930Ile)
c.101786G>T (p.Ser33929Ile)
c.98828G>T (p.Ser32943Ile)
c.80444G>T (p.Ser26815Ile)
c.101939G>T (p.Ser33980Ile)
c.101936G>T (p.Ser33979Ile)
c.101369G>T (p.Ser33790Ile)
c.98711G>T (p.Ser32904Ile)
c.98630G>T (p.Ser32877Ile)
c.80393G>T (p.Ser26798Ile)
c.70247G>T (p.Ser23416Ile)
2g.178527628C>GCA349400708TTN,TTN-AS1c.99794G>C (p.Ser33265Thr)
c.80879G>C (p.Ser26960Thr)
c.80678G>C (p.Ser26893Thr)
c.80303G>C (p.Ser26768Thr)
c.107498G>C (p.Ser35833Thr)
c.102575G>C (p.Ser34192Thr)
n.446+3992C>G
n.219+3992C>G
c.106595G>C (p.Ser35532Thr)
c.80489G>C (p.Ser26830Thr)
c.80348G>C (p.Ser26783Thr)
c.106391G>C (p.Ser35464Thr)
c.101789G>C (p.Ser33930Thr)
c.101786G>C (p.Ser33929Thr)
c.98828G>C (p.Ser32943Thr)
c.80444G>C (p.Ser26815Thr)
c.101939G>C (p.Ser33980Thr)
c.101936G>C (p.Ser33979Thr)
c.101369G>C (p.Ser33790Thr)
c.98711G>C (p.Ser32904Thr)
c.98630G>C (p.Ser32877Thr)
c.80393G>C (p.Ser26798Thr)
c.70247G>C (p.Ser23416Thr)
2g.178527628C>TCA349400710TTN,TTN-AS1c.99794G>A (p.Ser33265Asn)
c.80879G>A (p.Ser26960Asn)
c.80678G>A (p.Ser26893Asn)
c.80303G>A (p.Ser26768Asn)
c.107498G>A (p.Ser35833Asn)
c.102575G>A (p.Ser34192Asn)
n.446+3992C>T
n.219+3992C>T
c.106595G>A (p.Ser35532Asn)
c.80489G>A (p.Ser26830Asn)
c.80348G>A (p.Ser26783Asn)
c.106391G>A (p.Ser35464Asn)
c.101789G>A (p.Ser33930Asn)
c.101786G>A (p.Ser33929Asn)
c.98828G>A (p.Ser32943Asn)
c.80444G>A (p.Ser26815Asn)
c.101939G>A (p.Ser33980Asn)
c.101936G>A (p.Ser33979Asn)
c.101369G>A (p.Ser33790Asn)
c.98711G>A (p.Ser32904Asn)
c.98630G>A (p.Ser32877Asn)
c.80393G>A (p.Ser26798Asn)
c.70247G>A (p.Ser23416Asn)
2g.178527629T>ACA349400712TTN,TTN-AS1c.99793A>T (p.Ser33265Cys)
c.80878A>T (p.Ser26960Cys)
c.80677A>T (p.Ser26893Cys)
c.80302A>T (p.Ser26768Cys)
c.107497A>T (p.Ser35833Cys)
c.102574A>T (p.Ser34192Cys)
n.446+3993T>A
n.219+3993T>A
c.106594A>T (p.Ser35532Cys)
c.80488A>T (p.Ser26830Cys)
c.80347A>T (p.Ser26783Cys)
c.106390A>T (p.Ser35464Cys)
c.101788A>T (p.Ser33930Cys)
c.101785A>T (p.Ser33929Cys)
c.98827A>T (p.Ser32943Cys)
c.80443A>T (p.Ser26815Cys)
c.101938A>T (p.Ser33980Cys)
c.101935A>T (p.Ser33979Cys)
c.101368A>T (p.Ser33790Cys)
c.98710A>T (p.Ser32904Cys)
c.98629A>T (p.Ser32877Cys)
c.80392A>T (p.Ser26798Cys)
c.70246A>T (p.Ser23416Cys)
2g.178527629T>CCA349400714TTN,TTN-AS1c.99793A>G (p.Ser33265Gly)
c.80878A>G (p.Ser26960Gly)
c.80677A>G (p.Ser26893Gly)
c.80302A>G (p.Ser26768Gly)
c.107497A>G (p.Ser35833Gly)
c.102574A>G (p.Ser34192Gly)
n.446+3993T>C
n.219+3993T>C
c.106594A>G (p.Ser35532Gly)
c.80488A>G (p.Ser26830Gly)
c.80347A>G (p.Ser26783Gly)
c.106390A>G (p.Ser35464Gly)
c.101788A>G (p.Ser33930Gly)
c.101785A>G (p.Ser33929Gly)
c.98827A>G (p.Ser32943Gly)
c.80443A>G (p.Ser26815Gly)
c.101938A>G (p.Ser33980Gly)
c.101935A>G (p.Ser33979Gly)
c.101368A>G (p.Ser33790Gly)
c.98710A>G (p.Ser32904Gly)
c.98629A>G (p.Ser32877Gly)
c.80392A>G (p.Ser26798Gly)
c.70246A>G (p.Ser23416Gly)
2g.178527629T>GCA349400715TTN,TTN-AS1c.99793A>C (p.Ser33265Arg)
c.80878A>C (p.Ser26960Arg)
c.80677A>C (p.Ser26893Arg)
c.80302A>C (p.Ser26768Arg)
c.107497A>C (p.Ser35833Arg)
c.102574A>C (p.Ser34192Arg)
n.446+3993T>G
n.219+3993T>G
c.106594A>C (p.Ser35532Arg)
c.80488A>C (p.Ser26830Arg)
c.80347A>C (p.Ser26783Arg)
c.106390A>C (p.Ser35464Arg)
c.101788A>C (p.Ser33930Arg)
c.101785A>C (p.Ser33929Arg)
c.98827A>C (p.Ser32943Arg)
c.80443A>C (p.Ser26815Arg)
c.101938A>C (p.Ser33980Arg)
c.101935A>C (p.Ser33979Arg)
c.101368A>C (p.Ser33790Arg)
c.98710A>C (p.Ser32904Arg)
c.98629A>C (p.Ser32877Arg)
c.80392A>C (p.Ser26798Arg)
c.70246A>C (p.Ser23416Arg)
2g.178527629_178527631delCA2753331294TTN,TTN-AS1c.99791_99793del (p.Phe33264_Ser33265delinsCys)
c.80876_80878del (p.Phe26959_Ser26960delinsCys)
c.80675_80677del (p.Phe26892_Ser26893delinsCys)
c.80300_80302del (p.Phe26767_Ser26768delinsCys)
c.107495_107497del (p.Phe35832_Ser35833delinsCys)
c.102572_102574del (p.Phe34191_Ser34192delinsCys)
n.446+3993_446+3995del
n.219+3993_219+3995del
c.106592_106594del (p.Phe35531_Ser35532delinsCys)
c.80486_80488del (p.Phe26829_Ser26830delinsCys)
c.80345_80347del (p.Phe26782_Ser26783delinsCys)
c.106388_106390del (p.Phe35463_Ser35464delinsCys)
c.101786_101788del (p.Phe33929_Ser33930delinsCys)
c.101783_101785del (p.Phe33928_Ser33929delinsCys)
c.98825_98827del (p.Phe32942_Ser32943delinsCys)
c.80441_80443del (p.Phe26814_Ser26815delinsCys)
c.101936_101938del (p.Phe33979_Ser33980delinsCys)
c.101933_101935del (p.Phe33978_Ser33979delinsCys)
c.101366_101368del (p.Phe33789_Ser33790delinsCys)
c.98708_98710del (p.Phe32903_Ser32904delinsCys)
c.98627_98629del (p.Phe32876_Ser32877delinsCys)
c.80390_80392del (p.Phe26797_Ser26798delinsCys)
c.70244_70246del (p.Phe23415_Ser23416delinsCys)
2g.178527630G>ACA430092130TTN,TTN-AS1c.99792C>T (p.Phe33264=)
c.80877C>T (p.Phe26959=)
c.80676C>T (p.Phe26892=)
c.80301C>T (p.Phe26767=)
c.107496C>T (p.Phe35832=)
c.102573C>T (p.Phe34191=)
n.446+3994G>A
n.219+3994G>A
c.106593C>T (p.Phe35531=)
c.80487C>T (p.Phe26829=)
c.80346C>T (p.Phe26782=)
c.106389C>T (p.Phe35463=)
c.101787C>T (p.Phe33929=)
c.101784C>T (p.Phe33928=)
c.98826C>T (p.Phe32942=)
c.80442C>T (p.Phe26814=)
c.101937C>T (p.Phe33979=)
c.101934C>T (p.Phe33978=)
c.101367C>T (p.Phe33789=)
c.98709C>T (p.Phe32903=)
c.98628C>T (p.Phe32876=)
c.80391C>T (p.Phe26797=)
c.70245C>T (p.Phe23415=)
2g.178527630G>CCA349400717TTN,TTN-AS1c.99792C>G (p.Phe33264Leu)
c.80877C>G (p.Phe26959Leu)
c.80676C>G (p.Phe26892Leu)
c.80301C>G (p.Phe26767Leu)
c.107496C>G (p.Phe35832Leu)
c.102573C>G (p.Phe34191Leu)
n.446+3994G>C
n.219+3994G>C
c.106593C>G (p.Phe35531Leu)
c.80487C>G (p.Phe26829Leu)
c.80346C>G (p.Phe26782Leu)
c.106389C>G (p.Phe35463Leu)
c.101787C>G (p.Phe33929Leu)
c.101784C>G (p.Phe33928Leu)
c.98826C>G (p.Phe32942Leu)
c.80442C>G (p.Phe26814Leu)
c.101937C>G (p.Phe33979Leu)
c.101934C>G (p.Phe33978Leu)
c.101367C>G (p.Phe33789Leu)
c.98709C>G (p.Phe32903Leu)
c.98628C>G (p.Phe32876Leu)
c.80391C>G (p.Phe26797Leu)
c.70245C>G (p.Phe23415Leu)
2g.178527630G>TCA349400719TTN,TTN-AS1c.99792C>A (p.Phe33264Leu)
c.80877C>A (p.Phe26959Leu)
c.80676C>A (p.Phe26892Leu)
c.80301C>A (p.Phe26767Leu)
c.107496C>A (p.Phe35832Leu)
c.102573C>A (p.Phe34191Leu)
n.446+3994G>T
n.219+3994G>T
c.106593C>A (p.Phe35531Leu)
c.80487C>A (p.Phe26829Leu)
c.80346C>A (p.Phe26782Leu)
c.106389C>A (p.Phe35463Leu)
c.101787C>A (p.Phe33929Leu)
c.101784C>A (p.Phe33928Leu)
c.98826C>A (p.Phe32942Leu)
c.80442C>A (p.Phe26814Leu)
c.101937C>A (p.Phe33979Leu)
c.101934C>A (p.Phe33978Leu)
c.101367C>A (p.Phe33789Leu)
c.98709C>A (p.Phe32903Leu)
c.98628C>A (p.Phe32876Leu)
c.80391C>A (p.Phe26797Leu)
c.70245C>A (p.Phe23415Leu)
2g.178527631A=CA1310508320TTN,TTN-AS1c.99791T= (p.Phe33264=)
c.80876T= (p.Phe26959=)
c.80675T= (p.Phe26892=)
c.80300T= (p.Phe26767=)
c.107495T= (p.Phe35832=)
c.102572T= (p.Phe34191=)
n.446+3995A=
n.219+3995A=
c.106592T= (p.Phe35531=)
c.80486T= (p.Phe26829=)
c.80345T= (p.Phe26782=)
c.106388T= (p.Phe35463=)
c.101786T= (p.Phe33929=)
c.101783T= (p.Phe33928=)
c.98825T= (p.Phe32942=)
c.80441T= (p.Phe26814=)
c.101936T= (p.Phe33979=)
c.101933T= (p.Phe33978=)
c.101366T= (p.Phe33789=)
c.98708T= (p.Phe32903=)
c.98627T= (p.Phe32876=)
c.80390T= (p.Phe26797=)
c.70244T= (p.Phe23415=)
2g.178527631A>CCA349400721TTN,TTN-AS1c.99791T>G (p.Phe33264Cys)
c.80876T>G (p.Phe26959Cys)
c.80675T>G (p.Phe26892Cys)
c.80300T>G (p.Phe26767Cys)
c.107495T>G (p.Phe35832Cys)
c.102572T>G (p.Phe34191Cys)
n.446+3995A>C
n.219+3995A>C
c.106592T>G (p.Phe35531Cys)
c.80486T>G (p.Phe26829Cys)
c.80345T>G (p.Phe26782Cys)
c.106388T>G (p.Phe35463Cys)
c.101786T>G (p.Phe33929Cys)
c.101783T>G (p.Phe33928Cys)
c.98825T>G (p.Phe32942Cys)
c.80441T>G (p.Phe26814Cys)
c.101936T>G (p.Phe33979Cys)
c.101933T>G (p.Phe33978Cys)
c.101366T>G (p.Phe33789Cys)
c.98708T>G (p.Phe32903Cys)
c.98627T>G (p.Phe32876Cys)
c.80390T>G (p.Phe26797Cys)
c.70244T>G (p.Phe23415Cys)
2g.178527631A>GCA349400722TTN,TTN-AS1c.99791T>C (p.Phe33264Ser)
c.80876T>C (p.Phe26959Ser)
c.80675T>C (p.Phe26892Ser)
c.80300T>C (p.Phe26767Ser)
c.107495T>C (p.Phe35832Ser)
c.102572T>C (p.Phe34191Ser)
n.446+3995A>G
n.219+3995A>G
c.106592T>C (p.Phe35531Ser)
c.80486T>C (p.Phe26829Ser)
c.80345T>C (p.Phe26782Ser)
c.106388T>C (p.Phe35463Ser)
c.101786T>C (p.Phe33929Ser)
c.101783T>C (p.Phe33928Ser)
c.98825T>C (p.Phe32942Ser)
c.80441T>C (p.Phe26814Ser)
c.101936T>C (p.Phe33979Ser)
c.101933T>C (p.Phe33978Ser)
c.101366T>C (p.Phe33789Ser)
c.98708T>C (p.Phe32903Ser)
c.98627T>C (p.Phe32876Ser)
c.80390T>C (p.Phe26797Ser)
c.70244T>C (p.Phe23415Ser)
2g.178527631A>TCA349400720TTN,TTN-AS1c.99791T>A (p.Phe33264Tyr)
c.80876T>A (p.Phe26959Tyr)
c.80675T>A (p.Phe26892Tyr)
c.80300T>A (p.Phe26767Tyr)
c.107495T>A (p.Phe35832Tyr)
c.102572T>A (p.Phe34191Tyr)
n.446+3995A>T
n.219+3995A>T
c.106592T>A (p.Phe35531Tyr)
c.80486T>A (p.Phe26829Tyr)
c.80345T>A (p.Phe26782Tyr)
c.106388T>A (p.Phe35463Tyr)
c.101786T>A (p.Phe33929Tyr)
c.101783T>A (p.Phe33928Tyr)
c.98825T>A (p.Phe32942Tyr)
c.80441T>A (p.Phe26814Tyr)
c.101936T>A (p.Phe33979Tyr)
c.101933T>A (p.Phe33978Tyr)
c.101366T>A (p.Phe33789Tyr)
c.98708T>A (p.Phe32903Tyr)
c.98627T>A (p.Phe32876Tyr)
c.80390T>A (p.Phe26797Tyr)
c.70244T>A (p.Phe23415Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.178527632A>CCA349400725TTN,TTN-AS1c.99790T>G (p.Phe33264Val)
c.80875T>G (p.Phe26959Val)
c.80674T>G (p.Phe26892Val)
c.80299T>G (p.Phe26767Val)
c.107494T>G (p.Phe35832Val)
c.102571T>G (p.Phe34191Val)
n.446+3996A>C
n.219+3996A>C
c.106591T>G (p.Phe35531Val)
c.80485T>G (p.Phe26829Val)
c.80344T>G (p.Phe26782Val)
c.106387T>G (p.Phe35463Val)
c.101785T>G (p.Phe33929Val)
c.101782T>G (p.Phe33928Val)
c.98824T>G (p.Phe32942Val)
c.80440T>G (p.Phe26814Val)
c.101935T>G (p.Phe33979Val)
c.101932T>G (p.Phe33978Val)
c.101365T>G (p.Phe33789Val)
c.98707T>G (p.Phe32903Val)
c.98626T>G (p.Phe32876Val)
c.80389T>G (p.Phe26797Val)
c.70243T>G (p.Phe23415Val)
2g.178527632A>GCA349400726TTN,TTN-AS1c.99790T>C (p.Phe33264Leu)
c.80875T>C (p.Phe26959Leu)
c.80674T>C (p.Phe26892Leu)
c.80299T>C (p.Phe26767Leu)
c.107494T>C (p.Phe35832Leu)
c.102571T>C (p.Phe34191Leu)
n.446+3996A>G
n.219+3996A>G
c.106591T>C (p.Phe35531Leu)
c.80485T>C (p.Phe26829Leu)
c.80344T>C (p.Phe26782Leu)
c.106387T>C (p.Phe35463Leu)
c.101785T>C (p.Phe33929Leu)
c.101782T>C (p.Phe33928Leu)
c.98824T>C (p.Phe32942Leu)
c.80440T>C (p.Phe26814Leu)
c.101935T>C (p.Phe33979Leu)
c.101932T>C (p.Phe33978Leu)
c.101365T>C (p.Phe33789Leu)
c.98707T>C (p.Phe32903Leu)
c.98626T>C (p.Phe32876Leu)
c.80389T>C (p.Phe26797Leu)
c.70243T>C (p.Phe23415Leu)
2g.178527632A>TCA349400728TTN,TTN-AS1c.99790T>A (p.Phe33264Ile)
c.80875T>A (p.Phe26959Ile)
c.80674T>A (p.Phe26892Ile)
c.80299T>A (p.Phe26767Ile)
c.107494T>A (p.Phe35832Ile)
c.102571T>A (p.Phe34191Ile)
n.446+3996A>T
n.219+3996A>T
c.106591T>A (p.Phe35531Ile)
c.80485T>A (p.Phe26829Ile)
c.80344T>A (p.Phe26782Ile)
c.106387T>A (p.Phe35463Ile)
c.101785T>A (p.Phe33929Ile)
c.101782T>A (p.Phe33928Ile)
c.98824T>A (p.Phe32942Ile)
c.80440T>A (p.Phe26814Ile)
c.101935T>A (p.Phe33979Ile)
c.101932T>A (p.Phe33978Ile)
c.101365T>A (p.Phe33789Ile)
c.98707T>A (p.Phe32903Ile)
c.98626T>A (p.Phe32876Ile)
c.80389T>A (p.Phe26797Ile)
c.70243T>A (p.Phe23415Ile)
2g.178527633G>ACA430092146TTN,TTN-AS1c.99789C>T (p.Ser33263=)
c.80874C>T (p.Ser26958=)
c.80673C>T (p.Ser26891=)
c.80298C>T (p.Ser26766=)
c.107493C>T (p.Ser35831=)
c.102570C>T (p.Ser34190=)
n.446+3997G>A
n.219+3997G>A
c.106590C>T (p.Ser35530=)
c.80484C>T (p.Ser26828=)
c.80343C>T (p.Ser26781=)
c.106386C>T (p.Ser35462=)
c.101784C>T (p.Ser33928=)
c.101781C>T (p.Ser33927=)
c.98823C>T (p.Ser32941=)
c.80439C>T (p.Ser26813=)
c.101934C>T (p.Ser33978=)
c.101931C>T (p.Ser33977=)
c.101364C>T (p.Ser33788=)
c.98706C>T (p.Ser32902=)
c.98625C>T (p.Ser32875=)
c.80388C>T (p.Ser26796=)
c.70242C>T (p.Ser23414=)
2g.178527633G>CCA430092145TTN,TTN-AS1c.99789C>G (p.Ser33263=)
c.80874C>G (p.Ser26958=)
c.80673C>G (p.Ser26891=)
c.80298C>G (p.Ser26766=)
c.107493C>G (p.Ser35831=)
c.102570C>G (p.Ser34190=)
n.446+3997G>C
n.219+3997G>C
c.106590C>G (p.Ser35530=)
c.80484C>G (p.Ser26828=)
c.80343C>G (p.Ser26781=)
c.106386C>G (p.Ser35462=)
c.101784C>G (p.Ser33928=)
c.101781C>G (p.Ser33927=)
c.98823C>G (p.Ser32941=)
c.80439C>G (p.Ser26813=)
c.101934C>G (p.Ser33978=)
c.101931C>G (p.Ser33977=)
c.101364C>G (p.Ser33788=)
c.98706C>G (p.Ser32902=)
c.98625C>G (p.Ser32875=)
c.80388C>G (p.Ser26796=)
c.70242C>G (p.Ser23414=)
2g.178527633G>TCA430092143TTN,TTN-AS1c.99789C>A (p.Ser33263=)
c.80874C>A (p.Ser26958=)
c.80673C>A (p.Ser26891=)
c.80298C>A (p.Ser26766=)
c.107493C>A (p.Ser35831=)
c.102570C>A (p.Ser34190=)
n.446+3997G>T
n.219+3997G>T
c.106590C>A (p.Ser35530=)
c.80484C>A (p.Ser26828=)
c.80343C>A (p.Ser26781=)
c.106386C>A (p.Ser35462=)
c.101784C>A (p.Ser33928=)
c.101781C>A (p.Ser33927=)
c.98823C>A (p.Ser32941=)
c.80439C>A (p.Ser26813=)
c.101934C>A (p.Ser33978=)
c.101931C>A (p.Ser33977=)
c.101364C>A (p.Ser33788=)
c.98706C>A (p.Ser32902=)
c.98625C>A (p.Ser32875=)
c.80388C>A (p.Ser26796=)
c.70242C>A (p.Ser23414=)

Number of alleles fetched