Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178574339T>ACA430257158TTN,TTN-AS1c.64089A>T (p.Pro21363=)
c.45174A>T (p.Pro15058=)
c.44973A>T (p.Pro14991=)
c.44598A>T (p.Pro14866=)
c.71793A>T (p.Pro23931=)
c.66870A>T (p.Pro22290=)
n.596+2890T>A
n.2044-8233T>A
c.70890A>T (p.Pro23630=)
c.44784A>T (p.Pro14928=)
c.44643A>T (p.Pro14881=)
c.70686A>T (p.Pro23562=)
c.66084A>T (p.Pro22028=)
c.66081A>T (p.Pro22027=)
c.63123A>T (p.Pro21041=)
c.44739A>T (p.Pro14913=)
c.66234A>T (p.Pro22078=)
c.66231A>T (p.Pro22077=)
c.65664A>T (p.Pro21888=)
c.63006A>T (p.Pro21002=)
c.62925A>T (p.Pro20975=)
c.44688A>T (p.Pro14896=)
c.34542A>T (p.Pro11514=)
2g.178574339T>CCA1990583TTN,TTN-AS1c.64089A>G (p.Pro21363=)
c.45174A>G (p.Pro15058=)
c.44973A>G (p.Pro14991=)
c.44598A>G (p.Pro14866=)
c.71793A>G (p.Pro23931=)
c.66870A>G (p.Pro22290=)
n.596+2890T>C
n.2044-8233T>C
c.70890A>G (p.Pro23630=)
c.44784A>G (p.Pro14928=)
c.44643A>G (p.Pro14881=)
c.70686A>G (p.Pro23562=)
c.66084A>G (p.Pro22028=)
c.66081A>G (p.Pro22027=)
c.63123A>G (p.Pro21041=)
c.44739A>G (p.Pro14913=)
c.66234A>G (p.Pro22078=)
c.66231A>G (p.Pro22077=)
c.65664A>G (p.Pro21888=)
c.63006A>G (p.Pro21002=)
c.62925A>G (p.Pro20975=)
c.44688A>G (p.Pro14896=)
c.34542A>G (p.Pro11514=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178574339T>GCA430257160TTN,TTN-AS1c.64089A>C (p.Pro21363=)
c.45174A>C (p.Pro15058=)
c.44973A>C (p.Pro14991=)
c.44598A>C (p.Pro14866=)
c.71793A>C (p.Pro23931=)
c.66870A>C (p.Pro22290=)
n.596+2890T>G
n.2044-8233T>G
c.70890A>C (p.Pro23630=)
c.44784A>C (p.Pro14928=)
c.44643A>C (p.Pro14881=)
c.70686A>C (p.Pro23562=)
c.66084A>C (p.Pro22028=)
c.66081A>C (p.Pro22027=)
c.63123A>C (p.Pro21041=)
c.44739A>C (p.Pro14913=)
c.66234A>C (p.Pro22078=)
c.66231A>C (p.Pro22077=)
c.65664A>C (p.Pro21888=)
c.63006A>C (p.Pro21002=)
c.62925A>C (p.Pro20975=)
c.44688A>C (p.Pro14896=)
c.34542A>C (p.Pro11514=)
2g.178574339T=CA1310532606TTN,TTN-AS1c.64089A= (p.Pro21363=)
c.45174A= (p.Pro15058=)
c.44973A= (p.Pro14991=)
c.44598A= (p.Pro14866=)
c.71793A= (p.Pro23931=)
c.66870A= (p.Pro22290=)
n.596+2890T=
n.2044-8233T=
c.70890A= (p.Pro23630=)
c.44784A= (p.Pro14928=)
c.44643A= (p.Pro14881=)
c.70686A= (p.Pro23562=)
c.66084A= (p.Pro22028=)
c.66081A= (p.Pro22027=)
c.63123A= (p.Pro21041=)
c.44739A= (p.Pro14913=)
c.66234A= (p.Pro22078=)
c.66231A= (p.Pro22077=)
c.65664A= (p.Pro21888=)
c.63006A= (p.Pro21002=)
c.62925A= (p.Pro20975=)
c.44688A= (p.Pro14896=)
c.34542A= (p.Pro11514=)
2g.178574340G>ACA349650765TTN,TTN-AS1c.64088C>T (p.Pro21363Leu)
c.45173C>T (p.Pro15058Leu)
c.44972C>T (p.Pro14991Leu)
c.44597C>T (p.Pro14866Leu)
c.71792C>T (p.Pro23931Leu)
c.66869C>T (p.Pro22290Leu)
n.596+2891G>A
n.2044-8232G>A
c.70889C>T (p.Pro23630Leu)
c.44783C>T (p.Pro14928Leu)
c.44642C>T (p.Pro14881Leu)
c.70685C>T (p.Pro23562Leu)
c.66083C>T (p.Pro22028Leu)
c.66080C>T (p.Pro22027Leu)
c.63122C>T (p.Pro21041Leu)
c.44738C>T (p.Pro14913Leu)
c.66233C>T (p.Pro22078Leu)
c.66230C>T (p.Pro22077Leu)
c.65663C>T (p.Pro21888Leu)
c.63005C>T (p.Pro21002Leu)
c.62924C>T (p.Pro20975Leu)
c.44687C>T (p.Pro14896Leu)
c.34541C>T (p.Pro11514Leu)
2g.178574340G>CCA349650758TTN,TTN-AS1c.64088C>G (p.Pro21363Arg)
c.45173C>G (p.Pro15058Arg)
c.44972C>G (p.Pro14991Arg)
c.44597C>G (p.Pro14866Arg)
c.71792C>G (p.Pro23931Arg)
c.66869C>G (p.Pro22290Arg)
n.596+2891G>C
n.2044-8232G>C
c.70889C>G (p.Pro23630Arg)
c.44783C>G (p.Pro14928Arg)
c.44642C>G (p.Pro14881Arg)
c.70685C>G (p.Pro23562Arg)
c.66083C>G (p.Pro22028Arg)
c.66080C>G (p.Pro22027Arg)
c.63122C>G (p.Pro21041Arg)
c.44738C>G (p.Pro14913Arg)
c.66233C>G (p.Pro22078Arg)
c.66230C>G (p.Pro22077Arg)
c.65663C>G (p.Pro21888Arg)
c.63005C>G (p.Pro21002Arg)
c.62924C>G (p.Pro20975Arg)
c.44687C>G (p.Pro14896Arg)
c.34541C>G (p.Pro11514Arg)
2g.178574340G>TCA349650762TTN,TTN-AS1c.64088C>A (p.Pro21363Gln)
c.45173C>A (p.Pro15058Gln)
c.44972C>A (p.Pro14991Gln)
c.44597C>A (p.Pro14866Gln)
c.71792C>A (p.Pro23931Gln)
c.66869C>A (p.Pro22290Gln)
n.596+2891G>T
n.2044-8232G>T
c.70889C>A (p.Pro23630Gln)
c.44783C>A (p.Pro14928Gln)
c.44642C>A (p.Pro14881Gln)
c.70685C>A (p.Pro23562Gln)
c.66083C>A (p.Pro22028Gln)
c.66080C>A (p.Pro22027Gln)
c.63122C>A (p.Pro21041Gln)
c.44738C>A (p.Pro14913Gln)
c.66233C>A (p.Pro22078Gln)
c.66230C>A (p.Pro22077Gln)
c.65663C>A (p.Pro21888Gln)
c.63005C>A (p.Pro21002Gln)
c.62924C>A (p.Pro20975Gln)
c.44687C>A (p.Pro14896Gln)
c.34541C>A (p.Pro11514Gln)
2g.178574341G>ACA349650774TTN,TTN-AS1c.64087C>T (p.Pro21363Ser)
c.45172C>T (p.Pro15058Ser)
c.44971C>T (p.Pro14991Ser)
c.44596C>T (p.Pro14866Ser)
c.71791C>T (p.Pro23931Ser)
c.66868C>T (p.Pro22290Ser)
n.596+2892G>A
n.2044-8231G>A
c.70888C>T (p.Pro23630Ser)
c.44782C>T (p.Pro14928Ser)
c.44641C>T (p.Pro14881Ser)
c.70684C>T (p.Pro23562Ser)
c.66082C>T (p.Pro22028Ser)
c.66079C>T (p.Pro22027Ser)
c.63121C>T (p.Pro21041Ser)
c.44737C>T (p.Pro14913Ser)
c.66232C>T (p.Pro22078Ser)
c.66229C>T (p.Pro22077Ser)
c.65662C>T (p.Pro21888Ser)
c.63004C>T (p.Pro21002Ser)
c.62923C>T (p.Pro20975Ser)
c.44686C>T (p.Pro14896Ser)
c.34540C>T (p.Pro11514Ser)
2g.178574341G>CCA349650778TTN,TTN-AS1c.64087C>G (p.Pro21363Ala)
c.45172C>G (p.Pro15058Ala)
c.44971C>G (p.Pro14991Ala)
c.44596C>G (p.Pro14866Ala)
c.71791C>G (p.Pro23931Ala)
c.66868C>G (p.Pro22290Ala)
n.596+2892G>C
n.2044-8231G>C
c.70888C>G (p.Pro23630Ala)
c.44782C>G (p.Pro14928Ala)
c.44641C>G (p.Pro14881Ala)
c.70684C>G (p.Pro23562Ala)
c.66082C>G (p.Pro22028Ala)
c.66079C>G (p.Pro22027Ala)
c.63121C>G (p.Pro21041Ala)
c.44737C>G (p.Pro14913Ala)
c.66232C>G (p.Pro22078Ala)
c.66229C>G (p.Pro22077Ala)
c.65662C>G (p.Pro21888Ala)
c.63004C>G (p.Pro21002Ala)
c.62923C>G (p.Pro20975Ala)
c.44686C>G (p.Pro14896Ala)
c.34540C>G (p.Pro11514Ala)
2g.178574341G>TCA349650779TTN,TTN-AS1c.64087C>A (p.Pro21363Thr)
c.45172C>A (p.Pro15058Thr)
c.44971C>A (p.Pro14991Thr)
c.44596C>A (p.Pro14866Thr)
c.71791C>A (p.Pro23931Thr)
c.66868C>A (p.Pro22290Thr)
n.596+2892G>T
n.2044-8231G>T
c.70888C>A (p.Pro23630Thr)
c.44782C>A (p.Pro14928Thr)
c.44641C>A (p.Pro14881Thr)
c.70684C>A (p.Pro23562Thr)
c.66082C>A (p.Pro22028Thr)
c.66079C>A (p.Pro22027Thr)
c.63121C>A (p.Pro21041Thr)
c.44737C>A (p.Pro14913Thr)
c.66232C>A (p.Pro22078Thr)
c.66229C>A (p.Pro22077Thr)
c.65662C>A (p.Pro21888Thr)
c.63004C>A (p.Pro21002Thr)
c.62923C>A (p.Pro20975Thr)
c.44686C>A (p.Pro14896Thr)
c.34540C>A (p.Pro11514Thr)
2g.178574342T>ACA349650782TTN,TTN-AS1c.64086A>T (p.Lys21362Asn)
c.45171A>T (p.Lys15057Asn)
c.44970A>T (p.Lys14990Asn)
c.44595A>T (p.Lys14865Asn)
c.71790A>T (p.Lys23930Asn)
c.66867A>T (p.Lys22289Asn)
n.596+2893T>A
n.2044-8230T>A
c.70887A>T (p.Lys23629Asn)
c.44781A>T (p.Lys14927Asn)
c.44640A>T (p.Lys14880Asn)
c.70683A>T (p.Lys23561Asn)
c.66081A>T (p.Lys22027Asn)
c.66078A>T (p.Lys22026Asn)
c.63120A>T (p.Lys21040Asn)
c.44736A>T (p.Lys14912Asn)
c.66231A>T (p.Lys22077Asn)
c.66228A>T (p.Lys22076Asn)
c.65661A>T (p.Lys21887Asn)
c.63003A>T (p.Lys21001Asn)
c.62922A>T (p.Lys20974Asn)
c.44685A>T (p.Lys14895Asn)
c.34539A>T (p.Lys11513Asn)
2g.178574342T>CCA430257165TTN,TTN-AS1c.64086A>G (p.Lys21362=)
c.45171A>G (p.Lys15057=)
c.44970A>G (p.Lys14990=)
c.44595A>G (p.Lys14865=)
c.71790A>G (p.Lys23930=)
c.66867A>G (p.Lys22289=)
n.596+2893T>C
n.2044-8230T>C
c.70887A>G (p.Lys23629=)
c.44781A>G (p.Lys14927=)
c.44640A>G (p.Lys14880=)
c.70683A>G (p.Lys23561=)
c.66081A>G (p.Lys22027=)
c.66078A>G (p.Lys22026=)
c.63120A>G (p.Lys21040=)
c.44736A>G (p.Lys14912=)
c.66231A>G (p.Lys22077=)
c.66228A>G (p.Lys22076=)
c.65661A>G (p.Lys21887=)
c.63003A>G (p.Lys21001=)
c.62922A>G (p.Lys20974=)
c.44685A>G (p.Lys14895=)
c.34539A>G (p.Lys11513=)
2g.178574342T>GCA349650784TTN,TTN-AS1c.64086A>C (p.Lys21362Asn)
c.45171A>C (p.Lys15057Asn)
c.44970A>C (p.Lys14990Asn)
c.44595A>C (p.Lys14865Asn)
c.71790A>C (p.Lys23930Asn)
c.66867A>C (p.Lys22289Asn)
n.596+2893T>G
n.2044-8230T>G
c.70887A>C (p.Lys23629Asn)
c.44781A>C (p.Lys14927Asn)
c.44640A>C (p.Lys14880Asn)
c.70683A>C (p.Lys23561Asn)
c.66081A>C (p.Lys22027Asn)
c.66078A>C (p.Lys22026Asn)
c.63120A>C (p.Lys21040Asn)
c.44736A>C (p.Lys14912Asn)
c.66231A>C (p.Lys22077Asn)
c.66228A>C (p.Lys22076Asn)
c.65661A>C (p.Lys21887Asn)
c.63003A>C (p.Lys21001Asn)
c.62922A>C (p.Lys20974Asn)
c.44685A>C (p.Lys14895Asn)
c.34539A>C (p.Lys11513Asn)
2g.178574343T>ACA310433TTN,TTN-AS1c.64085A>T (p.Lys21362Ile)
c.45170A>T (p.Lys15057Ile)
c.44969A>T (p.Lys14990Ile)
c.44594A>T (p.Lys14865Ile)
c.71789A>T (p.Lys23930Ile)
c.66866A>T (p.Lys22289Ile)
n.596+2894T>A
n.2044-8229T>A
c.70886A>T (p.Lys23629Ile)
c.44780A>T (p.Lys14927Ile)
c.44639A>T (p.Lys14880Ile)
c.70682A>T (p.Lys23561Ile)
c.66080A>T (p.Lys22027Ile)
c.66077A>T (p.Lys22026Ile)
c.63119A>T (p.Lys21040Ile)
c.44735A>T (p.Lys14912Ile)
c.66230A>T (p.Lys22077Ile)
c.66227A>T (p.Lys22076Ile)
c.65660A>T (p.Lys21887Ile)
c.63002A>T (p.Lys21001Ile)
c.62921A>T (p.Lys20974Ile)
c.44684A>T (p.Lys14895Ile)
c.34538A>T (p.Lys11513Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178574343T>CCA349650788TTN,TTN-AS1c.64085A>G (p.Lys21362Arg)
c.45170A>G (p.Lys15057Arg)
c.44969A>G (p.Lys14990Arg)
c.44594A>G (p.Lys14865Arg)
c.71789A>G (p.Lys23930Arg)
c.66866A>G (p.Lys22289Arg)
n.596+2894T>C
n.2044-8229T>C
c.70886A>G (p.Lys23629Arg)
c.44780A>G (p.Lys14927Arg)
c.44639A>G (p.Lys14880Arg)
c.70682A>G (p.Lys23561Arg)
c.66080A>G (p.Lys22027Arg)
c.66077A>G (p.Lys22026Arg)
c.63119A>G (p.Lys21040Arg)
c.44735A>G (p.Lys14912Arg)
c.66230A>G (p.Lys22077Arg)
c.66227A>G (p.Lys22076Arg)
c.65660A>G (p.Lys21887Arg)
c.63002A>G (p.Lys21001Arg)
c.62921A>G (p.Lys20974Arg)
c.44684A>G (p.Lys14895Arg)
c.34538A>G (p.Lys11513Arg)
2g.178574343T>GCA349650791TTN,TTN-AS1c.64085A>C (p.Lys21362Thr)
c.45170A>C (p.Lys15057Thr)
c.44969A>C (p.Lys14990Thr)
c.44594A>C (p.Lys14865Thr)
c.71789A>C (p.Lys23930Thr)
c.66866A>C (p.Lys22289Thr)
n.596+2894T>G
n.2044-8229T>G
c.70886A>C (p.Lys23629Thr)
c.44780A>C (p.Lys14927Thr)
c.44639A>C (p.Lys14880Thr)
c.70682A>C (p.Lys23561Thr)
c.66080A>C (p.Lys22027Thr)
c.66077A>C (p.Lys22026Thr)
c.63119A>C (p.Lys21040Thr)
c.44735A>C (p.Lys14912Thr)
c.66230A>C (p.Lys22077Thr)
c.66227A>C (p.Lys22076Thr)
c.65660A>C (p.Lys21887Thr)
c.63002A>C (p.Lys21001Thr)
c.62921A>C (p.Lys20974Thr)
c.44684A>C (p.Lys14895Thr)
c.34538A>C (p.Lys11513Thr)
2g.178574343T=CA1310532608TTN,TTN-AS1c.64085A= (p.Lys21362=)
c.45170A= (p.Lys15057=)
c.44969A= (p.Lys14990=)
c.44594A= (p.Lys14865=)
c.71789A= (p.Lys23930=)
c.66866A= (p.Lys22289=)
n.596+2894T=
n.2044-8229T=
c.70886A= (p.Lys23629=)
c.44780A= (p.Lys14927=)
c.44639A= (p.Lys14880=)
c.70682A= (p.Lys23561=)
c.66080A= (p.Lys22027=)
c.66077A= (p.Lys22026=)
c.63119A= (p.Lys21040=)
c.44735A= (p.Lys14912=)
c.66230A= (p.Lys22077=)
c.66227A= (p.Lys22076=)
c.65660A= (p.Lys21887=)
c.63002A= (p.Lys21001=)
c.62921A= (p.Lys20974=)
c.44684A= (p.Lys14895=)
c.34538A= (p.Lys11513=)
2g.178574344T>ACA349650796TTN,TTN-AS1c.64084A>T (p.Lys21362Ter)
c.45169A>T (p.Lys15057Ter)
c.44968A>T (p.Lys14990Ter)
c.44593A>T (p.Lys14865Ter)
c.71788A>T (p.Lys23930Ter)
c.66865A>T (p.Lys22289Ter)
n.596+2895T>A
n.2044-8228T>A
c.70885A>T (p.Lys23629Ter)
c.44779A>T (p.Lys14927Ter)
c.44638A>T (p.Lys14880Ter)
c.70681A>T (p.Lys23561Ter)
c.66079A>T (p.Lys22027Ter)
c.66076A>T (p.Lys22026Ter)
c.63118A>T (p.Lys21040Ter)
c.44734A>T (p.Lys14912Ter)
c.66229A>T (p.Lys22077Ter)
c.66226A>T (p.Lys22076Ter)
c.65659A>T (p.Lys21887Ter)
c.63001A>T (p.Lys21001Ter)
c.62920A>T (p.Lys20974Ter)
c.44683A>T (p.Lys14895Ter)
c.34537A>T (p.Lys11513Ter)
2g.178574344T>CCA349650799TTN,TTN-AS1c.64084A>G (p.Lys21362Glu)
c.45169A>G (p.Lys15057Glu)
c.44968A>G (p.Lys14990Glu)
c.44593A>G (p.Lys14865Glu)
c.71788A>G (p.Lys23930Glu)
c.66865A>G (p.Lys22289Glu)
n.596+2895T>C
n.2044-8228T>C
c.70885A>G (p.Lys23629Glu)
c.44779A>G (p.Lys14927Glu)
c.44638A>G (p.Lys14880Glu)
c.70681A>G (p.Lys23561Glu)
c.66079A>G (p.Lys22027Glu)
c.66076A>G (p.Lys22026Glu)
c.63118A>G (p.Lys21040Glu)
c.44734A>G (p.Lys14912Glu)
c.66229A>G (p.Lys22077Glu)
c.66226A>G (p.Lys22076Glu)
c.65659A>G (p.Lys21887Glu)
c.63001A>G (p.Lys21001Glu)
c.62920A>G (p.Lys20974Glu)
c.44683A>G (p.Lys14895Glu)
c.34537A>G (p.Lys11513Glu)
2g.178574344T>GCA349650800TTN,TTN-AS1c.64084A>C (p.Lys21362Gln)
c.45169A>C (p.Lys15057Gln)
c.44968A>C (p.Lys14990Gln)
c.44593A>C (p.Lys14865Gln)
c.71788A>C (p.Lys23930Gln)
c.66865A>C (p.Lys22289Gln)
n.596+2895T>G
n.2044-8228T>G
c.70885A>C (p.Lys23629Gln)
c.44779A>C (p.Lys14927Gln)
c.44638A>C (p.Lys14880Gln)
c.70681A>C (p.Lys23561Gln)
c.66079A>C (p.Lys22027Gln)
c.66076A>C (p.Lys22026Gln)
c.63118A>C (p.Lys21040Gln)
c.44734A>C (p.Lys14912Gln)
c.66229A>C (p.Lys22077Gln)
c.66226A>C (p.Lys22076Gln)
c.65659A>C (p.Lys21887Gln)
c.63001A>C (p.Lys21001Gln)
c.62920A>C (p.Lys20974Gln)
c.44683A>C (p.Lys14895Gln)
c.34537A>C (p.Lys11513Gln)
2g.178574345T>ACA430257175TTN,TTN-AS1c.64083A>T (p.Gly21361=)
c.45168A>T (p.Gly15056=)
c.44967A>T (p.Gly14989=)
c.44592A>T (p.Gly14864=)
c.71787A>T (p.Gly23929=)
c.66864A>T (p.Gly22288=)
n.596+2896T>A
n.2044-8227T>A
c.70884A>T (p.Gly23628=)
c.44778A>T (p.Gly14926=)
c.44637A>T (p.Gly14879=)
c.70680A>T (p.Gly23560=)
c.66078A>T (p.Gly22026=)
c.66075A>T (p.Gly22025=)
c.63117A>T (p.Gly21039=)
c.44733A>T (p.Gly14911=)
c.66228A>T (p.Gly22076=)
c.66225A>T (p.Gly22075=)
c.65658A>T (p.Gly21886=)
c.63000A>T (p.Gly21000=)
c.62919A>T (p.Gly20973=)
c.44682A>T (p.Gly14894=)
c.34536A>T (p.Gly11512=)
2g.178574345T>CCA430257177TTN,TTN-AS1c.64083A>G (p.Gly21361=)
c.45168A>G (p.Gly15056=)
c.44967A>G (p.Gly14989=)
c.44592A>G (p.Gly14864=)
c.71787A>G (p.Gly23929=)
c.66864A>G (p.Gly22288=)
n.596+2896T>C
n.2044-8227T>C
c.70884A>G (p.Gly23628=)
c.44778A>G (p.Gly14926=)
c.44637A>G (p.Gly14879=)
c.70680A>G (p.Gly23560=)
c.66078A>G (p.Gly22026=)
c.66075A>G (p.Gly22025=)
c.63117A>G (p.Gly21039=)
c.44733A>G (p.Gly14911=)
c.66228A>G (p.Gly22076=)
c.66225A>G (p.Gly22075=)
c.65658A>G (p.Gly21886=)
c.63000A>G (p.Gly21000=)
c.62919A>G (p.Gly20973=)
c.44682A>G (p.Gly14894=)
c.34536A>G (p.Gly11512=)
2g.178574345T>GCA430257181TTN,TTN-AS1c.64083A>C (p.Gly21361=)
c.45168A>C (p.Gly15056=)
c.44967A>C (p.Gly14989=)
c.44592A>C (p.Gly14864=)
c.71787A>C (p.Gly23929=)
c.66864A>C (p.Gly22288=)
n.596+2896T>G
n.2044-8227T>G
c.70884A>C (p.Gly23628=)
c.44778A>C (p.Gly14926=)
c.44637A>C (p.Gly14879=)
c.70680A>C (p.Gly23560=)
c.66078A>C (p.Gly22026=)
c.66075A>C (p.Gly22025=)
c.63117A>C (p.Gly21039=)
c.44733A>C (p.Gly14911=)
c.66228A>C (p.Gly22076=)
c.66225A>C (p.Gly22075=)
c.65658A>C (p.Gly21886=)
c.63000A>C (p.Gly21000=)
c.62919A>C (p.Gly20973=)
c.44682A>C (p.Gly14894=)
c.34536A>C (p.Gly11512=)
2g.178574346C>ACA349650825TTN,TTN-AS1c.64082G>T (p.Gly21361Val)
c.45167G>T (p.Gly15056Val)
c.44966G>T (p.Gly14989Val)
c.44591G>T (p.Gly14864Val)
c.71786G>T (p.Gly23929Val)
c.66863G>T (p.Gly22288Val)
n.596+2897C>A
n.2044-8226C>A
c.70883G>T (p.Gly23628Val)
c.44777G>T (p.Gly14926Val)
c.44636G>T (p.Gly14879Val)
c.70679G>T (p.Gly23560Val)
c.66077G>T (p.Gly22026Val)
c.66074G>T (p.Gly22025Val)
c.63116G>T (p.Gly21039Val)
c.44732G>T (p.Gly14911Val)
c.66227G>T (p.Gly22076Val)
c.66224G>T (p.Gly22075Val)
c.65657G>T (p.Gly21886Val)
c.62999G>T (p.Gly21000Val)
c.62918G>T (p.Gly20973Val)
c.44681G>T (p.Gly14894Val)
c.34535G>T (p.Gly11512Val)
2g.178574346C>GCA349650817TTN,TTN-AS1c.64082G>C (p.Gly21361Ala)
c.45167G>C (p.Gly15056Ala)
c.44966G>C (p.Gly14989Ala)
c.44591G>C (p.Gly14864Ala)
c.71786G>C (p.Gly23929Ala)
c.66863G>C (p.Gly22288Ala)
n.596+2897C>G
n.2044-8226C>G
c.70883G>C (p.Gly23628Ala)
c.44777G>C (p.Gly14926Ala)
c.44636G>C (p.Gly14879Ala)
c.70679G>C (p.Gly23560Ala)
c.66077G>C (p.Gly22026Ala)
c.66074G>C (p.Gly22025Ala)
c.63116G>C (p.Gly21039Ala)
c.44732G>C (p.Gly14911Ala)
c.66227G>C (p.Gly22076Ala)
c.66224G>C (p.Gly22075Ala)
c.65657G>C (p.Gly21886Ala)
c.62999G>C (p.Gly21000Ala)
c.62918G>C (p.Gly20973Ala)
c.44681G>C (p.Gly14894Ala)
c.34535G>C (p.Gly11512Ala)
2g.178574346C>TCA349650813TTN,TTN-AS1c.64082G>A (p.Gly21361Glu)
c.45167G>A (p.Gly15056Glu)
c.44966G>A (p.Gly14989Glu)
c.44591G>A (p.Gly14864Glu)
c.71786G>A (p.Gly23929Glu)
c.66863G>A (p.Gly22288Glu)
n.596+2897C>T
n.2044-8226C>T
c.70883G>A (p.Gly23628Glu)
c.44777G>A (p.Gly14926Glu)
c.44636G>A (p.Gly14879Glu)
c.70679G>A (p.Gly23560Glu)
c.66077G>A (p.Gly22026Glu)
c.66074G>A (p.Gly22025Glu)
c.63116G>A (p.Gly21039Glu)
c.44732G>A (p.Gly14911Glu)
c.66227G>A (p.Gly22076Glu)
c.66224G>A (p.Gly22075Glu)
c.65657G>A (p.Gly21886Glu)
c.62999G>A (p.Gly21000Glu)
c.62918G>A (p.Gly20973Glu)
c.44681G>A (p.Gly14894Glu)
c.34535G>A (p.Gly11512Glu)
 COSMIC COSMIC COSMIC COSMIC
2g.178574347C>ACA349650829TTN,TTN-AS1c.64081G>T (p.Gly21361Ter)
c.45166G>T (p.Gly15056Ter)
c.44965G>T (p.Gly14989Ter)
c.44590G>T (p.Gly14864Ter)
c.71785G>T (p.Gly23929Ter)
c.66862G>T (p.Gly22288Ter)
n.596+2898C>A
n.2044-8225C>A
c.70882G>T (p.Gly23628Ter)
c.44776G>T (p.Gly14926Ter)
c.44635G>T (p.Gly14879Ter)
c.70678G>T (p.Gly23560Ter)
c.66076G>T (p.Gly22026Ter)
c.66073G>T (p.Gly22025Ter)
c.63115G>T (p.Gly21039Ter)
c.44731G>T (p.Gly14911Ter)
c.66226G>T (p.Gly22076Ter)
c.66223G>T (p.Gly22075Ter)
c.65656G>T (p.Gly21886Ter)
c.62998G>T (p.Gly21000Ter)
c.62917G>T (p.Gly20973Ter)
c.44680G>T (p.Gly14894Ter)
c.34534G>T (p.Gly11512Ter)
2g.178574347C=CA1310532611TTN,TTN-AS1c.64081G= (p.Gly21361=)
c.45166G= (p.Gly15056=)
c.44965G= (p.Gly14989=)
c.44590G= (p.Gly14864=)
c.71785G= (p.Gly23929=)
c.66862G= (p.Gly22288=)
n.596+2898C=
n.2044-8225C=
c.70882G= (p.Gly23628=)
c.44776G= (p.Gly14926=)
c.44635G= (p.Gly14879=)
c.70678G= (p.Gly23560=)
c.66076G= (p.Gly22026=)
c.66073G= (p.Gly22025=)
c.63115G= (p.Gly21039=)
c.44731G= (p.Gly14911=)
c.66226G= (p.Gly22076=)
c.66223G= (p.Gly22075=)
c.65656G= (p.Gly21886=)
c.62998G= (p.Gly21000=)
c.62917G= (p.Gly20973=)
c.44680G= (p.Gly14894=)
c.34534G= (p.Gly11512=)
2g.178574347C>GCA349650834TTN,TTN-AS1c.64081G>C (p.Gly21361Arg)
c.45166G>C (p.Gly15056Arg)
c.44965G>C (p.Gly14989Arg)
c.44590G>C (p.Gly14864Arg)
c.71785G>C (p.Gly23929Arg)
c.66862G>C (p.Gly22288Arg)
n.596+2898C>G
n.2044-8225C>G
c.70882G>C (p.Gly23628Arg)
c.44776G>C (p.Gly14926Arg)
c.44635G>C (p.Gly14879Arg)
c.70678G>C (p.Gly23560Arg)
c.66076G>C (p.Gly22026Arg)
c.66073G>C (p.Gly22025Arg)
c.63115G>C (p.Gly21039Arg)
c.44731G>C (p.Gly14911Arg)
c.66226G>C (p.Gly22076Arg)
c.66223G>C (p.Gly22075Arg)
c.65656G>C (p.Gly21886Arg)
c.62998G>C (p.Gly21000Arg)
c.62917G>C (p.Gly20973Arg)
c.44680G>C (p.Gly14894Arg)
c.34534G>C (p.Gly11512Arg)
2g.178574347C>TCA61000632TTN,TTN-AS1c.64081G>A (p.Gly21361Arg)
c.45166G>A (p.Gly15056Arg)
c.44965G>A (p.Gly14989Arg)
c.44590G>A (p.Gly14864Arg)
c.71785G>A (p.Gly23929Arg)
c.66862G>A (p.Gly22288Arg)
n.596+2898C>T
n.2044-8225C>T
c.70882G>A (p.Gly23628Arg)
c.44776G>A (p.Gly14926Arg)
c.44635G>A (p.Gly14879Arg)
c.70678G>A (p.Gly23560Arg)
c.66076G>A (p.Gly22026Arg)
c.66073G>A (p.Gly22025Arg)
c.63115G>A (p.Gly21039Arg)
c.44731G>A (p.Gly14911Arg)
c.66226G>A (p.Gly22076Arg)
c.66223G>A (p.Gly22075Arg)
c.65656G>A (p.Gly21886Arg)
c.62998G>A (p.Gly21000Arg)
c.62917G>A (p.Gly20973Arg)
c.44680G>A (p.Gly14894Arg)
c.34534G>A (p.Gly11512Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178574348A>CCA430257186TTN,TTN-AS1c.64080T>G (p.Pro21360=)
c.45165T>G (p.Pro15055=)
c.44964T>G (p.Pro14988=)
c.44589T>G (p.Pro14863=)
c.71784T>G (p.Pro23928=)
c.66861T>G (p.Pro22287=)
n.596+2899A>C
n.2044-8224A>C
c.70881T>G (p.Pro23627=)
c.44775T>G (p.Pro14925=)
c.44634T>G (p.Pro14878=)
c.70677T>G (p.Pro23559=)
c.66075T>G (p.Pro22025=)
c.66072T>G (p.Pro22024=)
c.63114T>G (p.Pro21038=)
c.44730T>G (p.Pro14910=)
c.66225T>G (p.Pro22075=)
c.66222T>G (p.Pro22074=)
c.65655T>G (p.Pro21885=)
c.62997T>G (p.Pro20999=)
c.62916T>G (p.Pro20972=)
c.44679T>G (p.Pro14893=)
c.34533T>G (p.Pro11511=)
2g.178574348A>GCA430257188TTN,TTN-AS1c.64080T>C (p.Pro21360=)
c.45165T>C (p.Pro15055=)
c.44964T>C (p.Pro14988=)
c.44589T>C (p.Pro14863=)
c.71784T>C (p.Pro23928=)
c.66861T>C (p.Pro22287=)
n.596+2899A>G
n.2044-8224A>G
c.70881T>C (p.Pro23627=)
c.44775T>C (p.Pro14925=)
c.44634T>C (p.Pro14878=)
c.70677T>C (p.Pro23559=)
c.66075T>C (p.Pro22025=)
c.66072T>C (p.Pro22024=)
c.63114T>C (p.Pro21038=)
c.44730T>C (p.Pro14910=)
c.66225T>C (p.Pro22075=)
c.66222T>C (p.Pro22074=)
c.65655T>C (p.Pro21885=)
c.62997T>C (p.Pro20999=)
c.62916T>C (p.Pro20972=)
c.44679T>C (p.Pro14893=)
c.34533T>C (p.Pro11511=)
 gnomAD v4
2g.178574348A>TCA430257189TTN,TTN-AS1c.64080T>A (p.Pro21360=)
c.45165T>A (p.Pro15055=)
c.44964T>A (p.Pro14988=)
c.44589T>A (p.Pro14863=)
c.71784T>A (p.Pro23928=)
c.66861T>A (p.Pro22287=)
n.596+2899A>T
n.2044-8224A>T
c.70881T>A (p.Pro23627=)
c.44775T>A (p.Pro14925=)
c.44634T>A (p.Pro14878=)
c.70677T>A (p.Pro23559=)
c.66075T>A (p.Pro22025=)
c.66072T>A (p.Pro22024=)
c.63114T>A (p.Pro21038=)
c.44730T>A (p.Pro14910=)
c.66225T>A (p.Pro22075=)
c.66222T>A (p.Pro22074=)
c.65655T>A (p.Pro21885=)
c.62997T>A (p.Pro20999=)
c.62916T>A (p.Pro20972=)
c.44679T>A (p.Pro14893=)
c.34533T>A (p.Pro11511=)
2g.178574349G>ACA349650839TTN,TTN-AS1c.64079C>T (p.Pro21360Leu)
c.45164C>T (p.Pro15055Leu)
c.44963C>T (p.Pro14988Leu)
c.44588C>T (p.Pro14863Leu)
c.71783C>T (p.Pro23928Leu)
c.66860C>T (p.Pro22287Leu)
n.596+2900G>A
n.2044-8223G>A
c.70880C>T (p.Pro23627Leu)
c.44774C>T (p.Pro14925Leu)
c.44633C>T (p.Pro14878Leu)
c.70676C>T (p.Pro23559Leu)
c.66074C>T (p.Pro22025Leu)
c.66071C>T (p.Pro22024Leu)
c.63113C>T (p.Pro21038Leu)
c.44729C>T (p.Pro14910Leu)
c.66224C>T (p.Pro22075Leu)
c.66221C>T (p.Pro22074Leu)
c.65654C>T (p.Pro21885Leu)
c.62996C>T (p.Pro20999Leu)
c.62915C>T (p.Pro20972Leu)
c.44678C>T (p.Pro14893Leu)
c.34532C>T (p.Pro11511Leu)
2g.178574349G>CCA349650842TTN,TTN-AS1c.64079C>G (p.Pro21360Arg)
c.45164C>G (p.Pro15055Arg)
c.44963C>G (p.Pro14988Arg)
c.44588C>G (p.Pro14863Arg)
c.71783C>G (p.Pro23928Arg)
c.66860C>G (p.Pro22287Arg)
n.596+2900G>C
n.2044-8223G>C
c.70880C>G (p.Pro23627Arg)
c.44774C>G (p.Pro14925Arg)
c.44633C>G (p.Pro14878Arg)
c.70676C>G (p.Pro23559Arg)
c.66074C>G (p.Pro22025Arg)
c.66071C>G (p.Pro22024Arg)
c.63113C>G (p.Pro21038Arg)
c.44729C>G (p.Pro14910Arg)
c.66224C>G (p.Pro22075Arg)
c.66221C>G (p.Pro22074Arg)
c.65654C>G (p.Pro21885Arg)
c.62996C>G (p.Pro20999Arg)
c.62915C>G (p.Pro20972Arg)
c.44678C>G (p.Pro14893Arg)
c.34532C>G (p.Pro11511Arg)
2g.178574349G>TCA349650844TTN,TTN-AS1c.64079C>A (p.Pro21360His)
c.45164C>A (p.Pro15055His)
c.44963C>A (p.Pro14988His)
c.44588C>A (p.Pro14863His)
c.71783C>A (p.Pro23928His)
c.66860C>A (p.Pro22287His)
n.596+2900G>T
n.2044-8223G>T
c.70880C>A (p.Pro23627His)
c.44774C>A (p.Pro14925His)
c.44633C>A (p.Pro14878His)
c.70676C>A (p.Pro23559His)
c.66074C>A (p.Pro22025His)
c.66071C>A (p.Pro22024His)
c.63113C>A (p.Pro21038His)
c.44729C>A (p.Pro14910His)
c.66224C>A (p.Pro22075His)
c.66221C>A (p.Pro22074His)
c.65654C>A (p.Pro21885His)
c.62996C>A (p.Pro20999His)
c.62915C>A (p.Pro20972His)
c.44678C>A (p.Pro14893His)
c.34532C>A (p.Pro11511His)
2g.178574350G>ACA349650849TTN,TTN-AS1c.64078C>T (p.Pro21360Ser)
c.45163C>T (p.Pro15055Ser)
c.44962C>T (p.Pro14988Ser)
c.44587C>T (p.Pro14863Ser)
c.71782C>T (p.Pro23928Ser)
c.66859C>T (p.Pro22287Ser)
n.596+2901G>A
n.2044-8222G>A
c.70879C>T (p.Pro23627Ser)
c.44773C>T (p.Pro14925Ser)
c.44632C>T (p.Pro14878Ser)
c.70675C>T (p.Pro23559Ser)
c.66073C>T (p.Pro22025Ser)
c.66070C>T (p.Pro22024Ser)
c.63112C>T (p.Pro21038Ser)
c.44728C>T (p.Pro14910Ser)
c.66223C>T (p.Pro22075Ser)
c.66220C>T (p.Pro22074Ser)
c.65653C>T (p.Pro21885Ser)
c.62995C>T (p.Pro20999Ser)
c.62914C>T (p.Pro20972Ser)
c.44677C>T (p.Pro14893Ser)
c.34531C>T (p.Pro11511Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178574350G>CCA349650853TTN,TTN-AS1c.64078C>G (p.Pro21360Ala)
c.45163C>G (p.Pro15055Ala)
c.44962C>G (p.Pro14988Ala)
c.44587C>G (p.Pro14863Ala)
c.71782C>G (p.Pro23928Ala)
c.66859C>G (p.Pro22287Ala)
n.596+2901G>C
n.2044-8222G>C
c.70879C>G (p.Pro23627Ala)
c.44773C>G (p.Pro14925Ala)
c.44632C>G (p.Pro14878Ala)
c.70675C>G (p.Pro23559Ala)
c.66073C>G (p.Pro22025Ala)
c.66070C>G (p.Pro22024Ala)
c.63112C>G (p.Pro21038Ala)
c.44728C>G (p.Pro14910Ala)
c.66223C>G (p.Pro22075Ala)
c.66220C>G (p.Pro22074Ala)
c.65653C>G (p.Pro21885Ala)
c.62995C>G (p.Pro20999Ala)
c.62914C>G (p.Pro20972Ala)
c.44677C>G (p.Pro14893Ala)
c.34531C>G (p.Pro11511Ala)
2g.178574350G=CA1310532612TTN,TTN-AS1c.64078C= (p.Pro21360=)
c.45163C= (p.Pro15055=)
c.44962C= (p.Pro14988=)
c.44587C= (p.Pro14863=)
c.71782C= (p.Pro23928=)
c.66859C= (p.Pro22287=)
n.596+2901G=
n.2044-8222G=
c.70879C= (p.Pro23627=)
c.44773C= (p.Pro14925=)
c.44632C= (p.Pro14878=)
c.70675C= (p.Pro23559=)
c.66073C= (p.Pro22025=)
c.66070C= (p.Pro22024=)
c.63112C= (p.Pro21038=)
c.44728C= (p.Pro14910=)
c.66223C= (p.Pro22075=)
c.66220C= (p.Pro22074=)
c.65653C= (p.Pro21885=)
c.62995C= (p.Pro20999=)
c.62914C= (p.Pro20972=)
c.44677C= (p.Pro14893=)
c.34531C= (p.Pro11511=)
2g.178574350G>TCA349650854TTN,TTN-AS1c.64078C>A (p.Pro21360Thr)
c.45163C>A (p.Pro15055Thr)
c.44962C>A (p.Pro14988Thr)
c.44587C>A (p.Pro14863Thr)
c.71782C>A (p.Pro23928Thr)
c.66859C>A (p.Pro22287Thr)
n.596+2901G>T
n.2044-8222G>T
c.70879C>A (p.Pro23627Thr)
c.44773C>A (p.Pro14925Thr)
c.44632C>A (p.Pro14878Thr)
c.70675C>A (p.Pro23559Thr)
c.66073C>A (p.Pro22025Thr)
c.66070C>A (p.Pro22024Thr)
c.63112C>A (p.Pro21038Thr)
c.44728C>A (p.Pro14910Thr)
c.66223C>A (p.Pro22075Thr)
c.66220C>A (p.Pro22074Thr)
c.65653C>A (p.Pro21885Thr)
c.62995C>A (p.Pro20999Thr)
c.62914C>A (p.Pro20972Thr)
c.44677C>A (p.Pro14893Thr)
c.34531C>A (p.Pro11511Thr)
 dbSNP
2g.178574351T>ACA430257191TTN,TTN-AS1c.64077A>T (p.Pro21359=)
c.45162A>T (p.Pro15054=)
c.44961A>T (p.Pro14987=)
c.44586A>T (p.Pro14862=)
c.71781A>T (p.Pro23927=)
c.66858A>T (p.Pro22286=)
n.596+2902T>A
n.2044-8221T>A
c.70878A>T (p.Pro23626=)
c.44772A>T (p.Pro14924=)
c.44631A>T (p.Pro14877=)
c.70674A>T (p.Pro23558=)
c.66072A>T (p.Pro22024=)
c.66069A>T (p.Pro22023=)
c.63111A>T (p.Pro21037=)
c.44727A>T (p.Pro14909=)
c.66222A>T (p.Pro22074=)
c.66219A>T (p.Pro22073=)
c.65652A>T (p.Pro21884=)
c.62994A>T (p.Pro20998=)
c.62913A>T (p.Pro20971=)
c.44676A>T (p.Pro14892=)
c.34530A>T (p.Pro11510=)
2g.178574351T>CCA430257192TTN,TTN-AS1c.64077A>G (p.Pro21359=)
c.45162A>G (p.Pro15054=)
c.44961A>G (p.Pro14987=)
c.44586A>G (p.Pro14862=)
c.71781A>G (p.Pro23927=)
c.66858A>G (p.Pro22286=)
n.596+2902T>C
n.2044-8221T>C
c.70878A>G (p.Pro23626=)
c.44772A>G (p.Pro14924=)
c.44631A>G (p.Pro14877=)
c.70674A>G (p.Pro23558=)
c.66072A>G (p.Pro22024=)
c.66069A>G (p.Pro22023=)
c.63111A>G (p.Pro21037=)
c.44727A>G (p.Pro14909=)
c.66222A>G (p.Pro22074=)
c.66219A>G (p.Pro22073=)
c.65652A>G (p.Pro21884=)
c.62994A>G (p.Pro20998=)
c.62913A>G (p.Pro20971=)
c.44676A>G (p.Pro14892=)
c.34530A>G (p.Pro11510=)
2g.178574351T>GCA430257193TTN,TTN-AS1c.64077A>C (p.Pro21359=)
c.45162A>C (p.Pro15054=)
c.44961A>C (p.Pro14987=)
c.44586A>C (p.Pro14862=)
c.71781A>C (p.Pro23927=)
c.66858A>C (p.Pro22286=)
n.596+2902T>G
n.2044-8221T>G
c.70878A>C (p.Pro23626=)
c.44772A>C (p.Pro14924=)
c.44631A>C (p.Pro14877=)
c.70674A>C (p.Pro23558=)
c.66072A>C (p.Pro22024=)
c.66069A>C (p.Pro22023=)
c.63111A>C (p.Pro21037=)
c.44727A>C (p.Pro14909=)
c.66222A>C (p.Pro22074=)
c.66219A>C (p.Pro22073=)
c.65652A>C (p.Pro21884=)
c.62994A>C (p.Pro20998=)
c.62913A>C (p.Pro20971=)
c.44676A>C (p.Pro14892=)
c.34530A>C (p.Pro11510=)
2g.178574352G>ACA349650857TTN,TTN-AS1c.64076C>T (p.Pro21359Leu)
c.45161C>T (p.Pro15054Leu)
c.44960C>T (p.Pro14987Leu)
c.44585C>T (p.Pro14862Leu)
c.71780C>T (p.Pro23927Leu)
c.66857C>T (p.Pro22286Leu)
n.596+2903G>A
n.2044-8220G>A
c.70877C>T (p.Pro23626Leu)
c.44771C>T (p.Pro14924Leu)
c.44630C>T (p.Pro14877Leu)
c.70673C>T (p.Pro23558Leu)
c.66071C>T (p.Pro22024Leu)
c.66068C>T (p.Pro22023Leu)
c.63110C>T (p.Pro21037Leu)
c.44726C>T (p.Pro14909Leu)
c.66221C>T (p.Pro22074Leu)
c.66218C>T (p.Pro22073Leu)
c.65651C>T (p.Pro21884Leu)
c.62993C>T (p.Pro20998Leu)
c.62912C>T (p.Pro20971Leu)
c.44675C>T (p.Pro14892Leu)
c.34529C>T (p.Pro11510Leu)
2g.178574352G>CCA349650858TTN,TTN-AS1c.64076C>G (p.Pro21359Arg)
c.45161C>G (p.Pro15054Arg)
c.44960C>G (p.Pro14987Arg)
c.44585C>G (p.Pro14862Arg)
c.71780C>G (p.Pro23927Arg)
c.66857C>G (p.Pro22286Arg)
n.596+2903G>C
n.2044-8220G>C
c.70877C>G (p.Pro23626Arg)
c.44771C>G (p.Pro14924Arg)
c.44630C>G (p.Pro14877Arg)
c.70673C>G (p.Pro23558Arg)
c.66071C>G (p.Pro22024Arg)
c.66068C>G (p.Pro22023Arg)
c.63110C>G (p.Pro21037Arg)
c.44726C>G (p.Pro14909Arg)
c.66221C>G (p.Pro22074Arg)
c.66218C>G (p.Pro22073Arg)
c.65651C>G (p.Pro21884Arg)
c.62993C>G (p.Pro20998Arg)
c.62912C>G (p.Pro20971Arg)
c.44675C>G (p.Pro14892Arg)
c.34529C>G (p.Pro11510Arg)
2g.178574352G>TCA349650859TTN,TTN-AS1c.64076C>A (p.Pro21359Gln)
c.45161C>A (p.Pro15054Gln)
c.44960C>A (p.Pro14987Gln)
c.44585C>A (p.Pro14862Gln)
c.71780C>A (p.Pro23927Gln)
c.66857C>A (p.Pro22286Gln)
n.596+2903G>T
n.2044-8220G>T
c.70877C>A (p.Pro23626Gln)
c.44771C>A (p.Pro14924Gln)
c.44630C>A (p.Pro14877Gln)
c.70673C>A (p.Pro23558Gln)
c.66071C>A (p.Pro22024Gln)
c.66068C>A (p.Pro22023Gln)
c.63110C>A (p.Pro21037Gln)
c.44726C>A (p.Pro14909Gln)
c.66221C>A (p.Pro22074Gln)
c.66218C>A (p.Pro22073Gln)
c.65651C>A (p.Pro21884Gln)
c.62993C>A (p.Pro20998Gln)
c.62912C>A (p.Pro20971Gln)
c.44675C>A (p.Pro14892Gln)
c.34529C>A (p.Pro11510Gln)
 gnomAD v4 COSMIC COSMIC COSMIC
2g.178574353G>ACA349650860TTN,TTN-AS1c.64075C>T (p.Pro21359Ser)
c.45160C>T (p.Pro15054Ser)
c.44959C>T (p.Pro14987Ser)
c.44584C>T (p.Pro14862Ser)
c.71779C>T (p.Pro23927Ser)
c.66856C>T (p.Pro22286Ser)
n.596+2904G>A
n.2044-8219G>A
c.70876C>T (p.Pro23626Ser)
c.44770C>T (p.Pro14924Ser)
c.44629C>T (p.Pro14877Ser)
c.70672C>T (p.Pro23558Ser)
c.66070C>T (p.Pro22024Ser)
c.66067C>T (p.Pro22023Ser)
c.63109C>T (p.Pro21037Ser)
c.44725C>T (p.Pro14909Ser)
c.66220C>T (p.Pro22074Ser)
c.66217C>T (p.Pro22073Ser)
c.65650C>T (p.Pro21884Ser)
c.62992C>T (p.Pro20998Ser)
c.62911C>T (p.Pro20971Ser)
c.44674C>T (p.Pro14892Ser)
c.34528C>T (p.Pro11510Ser)
2g.178574353G>CCA349650862TTN,TTN-AS1c.64075C>G (p.Pro21359Ala)
c.45160C>G (p.Pro15054Ala)
c.44959C>G (p.Pro14987Ala)
c.44584C>G (p.Pro14862Ala)
c.71779C>G (p.Pro23927Ala)
c.66856C>G (p.Pro22286Ala)
n.596+2904G>C
n.2044-8219G>C
c.70876C>G (p.Pro23626Ala)
c.44770C>G (p.Pro14924Ala)
c.44629C>G (p.Pro14877Ala)
c.70672C>G (p.Pro23558Ala)
c.66070C>G (p.Pro22024Ala)
c.66067C>G (p.Pro22023Ala)
c.63109C>G (p.Pro21037Ala)
c.44725C>G (p.Pro14909Ala)
c.66220C>G (p.Pro22074Ala)
c.66217C>G (p.Pro22073Ala)
c.65650C>G (p.Pro21884Ala)
c.62992C>G (p.Pro20998Ala)
c.62911C>G (p.Pro20971Ala)
c.44674C>G (p.Pro14892Ala)
c.34528C>G (p.Pro11510Ala)
 ClinVar gnomAD v4
2g.178574353G>TCA349650863TTN,TTN-AS1c.64075C>A (p.Pro21359Thr)
c.45160C>A (p.Pro15054Thr)
c.44959C>A (p.Pro14987Thr)
c.44584C>A (p.Pro14862Thr)
c.71779C>A (p.Pro23927Thr)
c.66856C>A (p.Pro22286Thr)
n.596+2904G>T
n.2044-8219G>T
c.70876C>A (p.Pro23626Thr)
c.44770C>A (p.Pro14924Thr)
c.44629C>A (p.Pro14877Thr)
c.70672C>A (p.Pro23558Thr)
c.66070C>A (p.Pro22024Thr)
c.66067C>A (p.Pro22023Thr)
c.63109C>A (p.Pro21037Thr)
c.44725C>A (p.Pro14909Thr)
c.66220C>A (p.Pro22074Thr)
c.66217C>A (p.Pro22073Thr)
c.65650C>A (p.Pro21884Thr)
c.62992C>A (p.Pro20998Thr)
c.62911C>A (p.Pro20971Thr)
c.44674C>A (p.Pro14892Thr)
c.34528C>A (p.Pro11510Thr)
2g.178574354G>ACA430257198TTN,TTN-AS1c.64074C>T (p.Asp21358=)
c.45159C>T (p.Asp15053=)
c.44958C>T (p.Asp14986=)
c.44583C>T (p.Asp14861=)
c.71778C>T (p.Asp23926=)
c.66855C>T (p.Asp22285=)
n.596+2905G>A
n.2044-8218G>A
c.70875C>T (p.Asp23625=)
c.44769C>T (p.Asp14923=)
c.44628C>T (p.Asp14876=)
c.70671C>T (p.Asp23557=)
c.66069C>T (p.Asp22023=)
c.66066C>T (p.Asp22022=)
c.63108C>T (p.Asp21036=)
c.44724C>T (p.Asp14908=)
c.66219C>T (p.Asp22073=)
c.66216C>T (p.Asp22072=)
c.65649C>T (p.Asp21883=)
c.62991C>T (p.Asp20997=)
c.62910C>T (p.Asp20970=)
c.44673C>T (p.Asp14891=)
c.34527C>T (p.Asp11509=)

Number of alleles fetched