Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178546867A=CA1310523476TTN,TTN-AS1c.86857T= (p.Ser28953=)
c.67942T= (p.Ser22648=)
c.67741T= (p.Ser22581=)
c.67366T= (p.Ser22456=)
c.94561T= (p.Ser31521=)
c.89638T= (p.Ser29880=)
n.446+23231A=
n.2043+4506A=
c.93658T= (p.Ser31220=)
c.67552T= (p.Ser22518=)
c.67411T= (p.Ser22471=)
c.93454T= (p.Ser31152=)
c.88852T= (p.Ser29618=)
c.88849T= (p.Ser29617=)
c.85891T= (p.Ser28631=)
c.67507T= (p.Ser22503=)
c.89002T= (p.Ser29668=)
c.88999T= (p.Ser29667=)
c.88432T= (p.Ser29478=)
c.85774T= (p.Ser28592=)
c.85693T= (p.Ser28565=)
c.67456T= (p.Ser22486=)
c.57310T= (p.Ser19104=)
2g.178546867A>CCA349472543TTN,TTN-AS1c.86857T>G (p.Ser28953Ala)
c.67942T>G (p.Ser22648Ala)
c.67741T>G (p.Ser22581Ala)
c.67366T>G (p.Ser22456Ala)
c.94561T>G (p.Ser31521Ala)
c.89638T>G (p.Ser29880Ala)
n.446+23231A>C
n.2043+4506A>C
c.93658T>G (p.Ser31220Ala)
c.67552T>G (p.Ser22518Ala)
c.67411T>G (p.Ser22471Ala)
c.93454T>G (p.Ser31152Ala)
c.88852T>G (p.Ser29618Ala)
c.88849T>G (p.Ser29617Ala)
c.85891T>G (p.Ser28631Ala)
c.67507T>G (p.Ser22503Ala)
c.89002T>G (p.Ser29668Ala)
c.88999T>G (p.Ser29667Ala)
c.88432T>G (p.Ser29478Ala)
c.85774T>G (p.Ser28592Ala)
c.85693T>G (p.Ser28565Ala)
c.67456T>G (p.Ser22486Ala)
c.57310T>G (p.Ser19104Ala)
2g.178546867A>GCA349472546TTN,TTN-AS1c.86857T>C (p.Ser28953Pro)
c.67942T>C (p.Ser22648Pro)
c.67741T>C (p.Ser22581Pro)
c.67366T>C (p.Ser22456Pro)
c.94561T>C (p.Ser31521Pro)
c.89638T>C (p.Ser29880Pro)
n.446+23231A>G
n.2043+4506A>G
c.93658T>C (p.Ser31220Pro)
c.67552T>C (p.Ser22518Pro)
c.67411T>C (p.Ser22471Pro)
c.93454T>C (p.Ser31152Pro)
c.88852T>C (p.Ser29618Pro)
c.88849T>C (p.Ser29617Pro)
c.85891T>C (p.Ser28631Pro)
c.67507T>C (p.Ser22503Pro)
c.89002T>C (p.Ser29668Pro)
c.88999T>C (p.Ser29667Pro)
c.88432T>C (p.Ser29478Pro)
c.85774T>C (p.Ser28592Pro)
c.85693T>C (p.Ser28565Pro)
c.67456T>C (p.Ser22486Pro)
c.57310T>C (p.Ser19104Pro)
 ClinVar dbSNP
2g.178546867A>TCA349472550TTN,TTN-AS1c.86857T>A (p.Ser28953Thr)
c.67942T>A (p.Ser22648Thr)
c.67741T>A (p.Ser22581Thr)
c.67366T>A (p.Ser22456Thr)
c.94561T>A (p.Ser31521Thr)
c.89638T>A (p.Ser29880Thr)
n.446+23231A>T
n.2043+4506A>T
c.93658T>A (p.Ser31220Thr)
c.67552T>A (p.Ser22518Thr)
c.67411T>A (p.Ser22471Thr)
c.93454T>A (p.Ser31152Thr)
c.88852T>A (p.Ser29618Thr)
c.88849T>A (p.Ser29617Thr)
c.85891T>A (p.Ser28631Thr)
c.67507T>A (p.Ser22503Thr)
c.89002T>A (p.Ser29668Thr)
c.88999T>A (p.Ser29667Thr)
c.88432T>A (p.Ser29478Thr)
c.85774T>A (p.Ser28592Thr)
c.85693T>A (p.Ser28565Thr)
c.67456T>A (p.Ser22486Thr)
c.57310T>A (p.Ser19104Thr)
2g.178546868T>ACA349472557TTN,TTN-AS1c.86856A>T (p.Arg28952Ser)
c.67941A>T (p.Arg22647Ser)
c.67740A>T (p.Arg22580Ser)
c.67365A>T (p.Arg22455Ser)
c.94560A>T (p.Arg31520Ser)
c.89637A>T (p.Arg29879Ser)
n.446+23232T>A
n.2043+4507T>A
c.93657A>T (p.Arg31219Ser)
c.67551A>T (p.Arg22517Ser)
c.67410A>T (p.Arg22470Ser)
c.93453A>T (p.Arg31151Ser)
c.88851A>T (p.Arg29617Ser)
c.88848A>T (p.Arg29616Ser)
c.85890A>T (p.Arg28630Ser)
c.67506A>T (p.Arg22502Ser)
c.89001A>T (p.Arg29667Ser)
c.88998A>T (p.Arg29666Ser)
c.88431A>T (p.Arg29477Ser)
c.85773A>T (p.Arg28591Ser)
c.85692A>T (p.Arg28564Ser)
c.67455A>T (p.Arg22485Ser)
c.57309A>T (p.Arg19103Ser)
2g.178546868T>CCA430242526TTN,TTN-AS1c.86856A>G (p.Arg28952=)
c.67941A>G (p.Arg22647=)
c.67740A>G (p.Arg22580=)
c.67365A>G (p.Arg22455=)
c.94560A>G (p.Arg31520=)
c.89637A>G (p.Arg29879=)
n.446+23232T>C
n.2043+4507T>C
c.93657A>G (p.Arg31219=)
c.67551A>G (p.Arg22517=)
c.67410A>G (p.Arg22470=)
c.93453A>G (p.Arg31151=)
c.88851A>G (p.Arg29617=)
c.88848A>G (p.Arg29616=)
c.85890A>G (p.Arg28630=)
c.67506A>G (p.Arg22502=)
c.89001A>G (p.Arg29667=)
c.88998A>G (p.Arg29666=)
c.88431A>G (p.Arg29477=)
c.85773A>G (p.Arg28591=)
c.85692A>G (p.Arg28564=)
c.67455A>G (p.Arg22485=)
c.57309A>G (p.Arg19103=)
 gnomAD v4
2g.178546868T>GCA349472561TTN,TTN-AS1c.86856A>C (p.Arg28952Ser)
c.67941A>C (p.Arg22647Ser)
c.67740A>C (p.Arg22580Ser)
c.67365A>C (p.Arg22455Ser)
c.94560A>C (p.Arg31520Ser)
c.89637A>C (p.Arg29879Ser)
n.446+23232T>G
n.2043+4507T>G
c.93657A>C (p.Arg31219Ser)
c.67551A>C (p.Arg22517Ser)
c.67410A>C (p.Arg22470Ser)
c.93453A>C (p.Arg31151Ser)
c.88851A>C (p.Arg29617Ser)
c.88848A>C (p.Arg29616Ser)
c.85890A>C (p.Arg28630Ser)
c.67506A>C (p.Arg22502Ser)
c.89001A>C (p.Arg29667Ser)
c.88998A>C (p.Arg29666Ser)
c.88431A>C (p.Arg29477Ser)
c.85773A>C (p.Arg28591Ser)
c.85692A>C (p.Arg28564Ser)
c.67455A>C (p.Arg22485Ser)
c.57309A>C (p.Arg19103Ser)
2g.178546869C>ACA349472568TTN,TTN-AS1c.86855G>T (p.Arg28952Ile)
c.67940G>T (p.Arg22647Ile)
c.67739G>T (p.Arg22580Ile)
c.67364G>T (p.Arg22455Ile)
c.94559G>T (p.Arg31520Ile)
c.89636G>T (p.Arg29879Ile)
n.446+23233C>A
n.2043+4508C>A
c.93656G>T (p.Arg31219Ile)
c.67550G>T (p.Arg22517Ile)
c.67409G>T (p.Arg22470Ile)
c.93452G>T (p.Arg31151Ile)
c.88850G>T (p.Arg29617Ile)
c.88847G>T (p.Arg29616Ile)
c.85889G>T (p.Arg28630Ile)
c.67505G>T (p.Arg22502Ile)
c.89000G>T (p.Arg29667Ile)
c.88997G>T (p.Arg29666Ile)
c.88430G>T (p.Arg29477Ile)
c.85772G>T (p.Arg28591Ile)
c.85691G>T (p.Arg28564Ile)
c.67454G>T (p.Arg22485Ile)
c.57308G>T (p.Arg19103Ile)
2g.178546869C=CA1310523480TTN,TTN-AS1c.86855G= (p.Arg28952=)
c.67940G= (p.Arg22647=)
c.67739G= (p.Arg22580=)
c.67364G= (p.Arg22455=)
c.94559G= (p.Arg31520=)
c.89636G= (p.Arg29879=)
n.446+23233C=
n.2043+4508C=
c.93656G= (p.Arg31219=)
c.67550G= (p.Arg22517=)
c.67409G= (p.Arg22470=)
c.93452G= (p.Arg31151=)
c.88850G= (p.Arg29617=)
c.88847G= (p.Arg29616=)
c.85889G= (p.Arg28630=)
c.67505G= (p.Arg22502=)
c.89000G= (p.Arg29667=)
c.88997G= (p.Arg29666=)
c.88430G= (p.Arg29477=)
c.85772G= (p.Arg28591=)
c.85691G= (p.Arg28564=)
c.67454G= (p.Arg22485=)
c.57308G= (p.Arg19103=)
2g.178546869C>GCA349472569TTN,TTN-AS1c.86855G>C (p.Arg28952Thr)
c.67940G>C (p.Arg22647Thr)
c.67739G>C (p.Arg22580Thr)
c.67364G>C (p.Arg22455Thr)
c.94559G>C (p.Arg31520Thr)
c.89636G>C (p.Arg29879Thr)
n.446+23233C>G
n.2043+4508C>G
c.93656G>C (p.Arg31219Thr)
c.67550G>C (p.Arg22517Thr)
c.67409G>C (p.Arg22470Thr)
c.93452G>C (p.Arg31151Thr)
c.88850G>C (p.Arg29617Thr)
c.88847G>C (p.Arg29616Thr)
c.85889G>C (p.Arg28630Thr)
c.67505G>C (p.Arg22502Thr)
c.89000G>C (p.Arg29667Thr)
c.88997G>C (p.Arg29666Thr)
c.88430G>C (p.Arg29477Thr)
c.85772G>C (p.Arg28591Thr)
c.85691G>C (p.Arg28564Thr)
c.67454G>C (p.Arg22485Thr)
c.57308G>C (p.Arg19103Thr)
2g.178546869C>TCA60972642TTN,TTN-AS1c.86855G>A (p.Arg28952Lys)
c.67940G>A (p.Arg22647Lys)
c.67739G>A (p.Arg22580Lys)
c.67364G>A (p.Arg22455Lys)
c.94559G>A (p.Arg31520Lys)
c.89636G>A (p.Arg29879Lys)
n.446+23233C>T
n.2043+4508C>T
c.93656G>A (p.Arg31219Lys)
c.67550G>A (p.Arg22517Lys)
c.67409G>A (p.Arg22470Lys)
c.93452G>A (p.Arg31151Lys)
c.88850G>A (p.Arg29617Lys)
c.88847G>A (p.Arg29616Lys)
c.85889G>A (p.Arg28630Lys)
c.67505G>A (p.Arg22502Lys)
c.89000G>A (p.Arg29667Lys)
c.88997G>A (p.Arg29666Lys)
c.88430G>A (p.Arg29477Lys)
c.85772G>A (p.Arg28591Lys)
c.85691G>A (p.Arg28564Lys)
c.67454G>A (p.Arg22485Lys)
c.57308G>A (p.Arg19103Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178546870T>ACA349472572TTN,TTN-AS1c.86854A>T (p.Arg28952Ter)
c.67939A>T (p.Arg22647Ter)
c.67738A>T (p.Arg22580Ter)
c.67363A>T (p.Arg22455Ter)
c.94558A>T (p.Arg31520Ter)
c.89635A>T (p.Arg29879Ter)
n.446+23234T>A
n.2043+4509T>A
c.93655A>T (p.Arg31219Ter)
c.67549A>T (p.Arg22517Ter)
c.67408A>T (p.Arg22470Ter)
c.93451A>T (p.Arg31151Ter)
c.88849A>T (p.Arg29617Ter)
c.88846A>T (p.Arg29616Ter)
c.85888A>T (p.Arg28630Ter)
c.67504A>T (p.Arg22502Ter)
c.88999A>T (p.Arg29667Ter)
c.88996A>T (p.Arg29666Ter)
c.88429A>T (p.Arg29477Ter)
c.85771A>T (p.Arg28591Ter)
c.85690A>T (p.Arg28564Ter)
c.67453A>T (p.Arg22485Ter)
c.57307A>T (p.Arg19103Ter)
2g.178546870T>CCA349472577TTN,TTN-AS1c.86854A>G (p.Arg28952Gly)
c.67939A>G (p.Arg22647Gly)
c.67738A>G (p.Arg22580Gly)
c.67363A>G (p.Arg22455Gly)
c.94558A>G (p.Arg31520Gly)
c.89635A>G (p.Arg29879Gly)
n.446+23234T>C
n.2043+4509T>C
c.93655A>G (p.Arg31219Gly)
c.67549A>G (p.Arg22517Gly)
c.67408A>G (p.Arg22470Gly)
c.93451A>G (p.Arg31151Gly)
c.88849A>G (p.Arg29617Gly)
c.88846A>G (p.Arg29616Gly)
c.85888A>G (p.Arg28630Gly)
c.67504A>G (p.Arg22502Gly)
c.88999A>G (p.Arg29667Gly)
c.88996A>G (p.Arg29666Gly)
c.88429A>G (p.Arg29477Gly)
c.85771A>G (p.Arg28591Gly)
c.85690A>G (p.Arg28564Gly)
c.67453A>G (p.Arg22485Gly)
c.57307A>G (p.Arg19103Gly)
2g.178546870T>GCA430242527TTN,TTN-AS1c.86854A>C (p.Arg28952=)
c.67939A>C (p.Arg22647=)
c.67738A>C (p.Arg22580=)
c.67363A>C (p.Arg22455=)
c.94558A>C (p.Arg31520=)
c.89635A>C (p.Arg29879=)
n.446+23234T>G
n.2043+4509T>G
c.93655A>C (p.Arg31219=)
c.67549A>C (p.Arg22517=)
c.67408A>C (p.Arg22470=)
c.93451A>C (p.Arg31151=)
c.88849A>C (p.Arg29617=)
c.88846A>C (p.Arg29616=)
c.85888A>C (p.Arg28630=)
c.67504A>C (p.Arg22502=)
c.88999A>C (p.Arg29667=)
c.88996A>C (p.Arg29666=)
c.88429A>C (p.Arg29477=)
c.85771A>C (p.Arg28591=)
c.85690A>C (p.Arg28564=)
c.67453A>C (p.Arg22485=)
c.57307A>C (p.Arg19103=)
2g.178546871delCA2586965323TTN,TTN-AS1c.86854del (p.Arg28952AspfsTer6)
c.67939del (p.Arg22647AspfsTer6)
c.67738del (p.Arg22580AspfsTer6)
c.67363del (p.Arg22455AspfsTer6)
c.94558del (p.Arg31520AspfsTer6)
c.89635del (p.Arg29879AspfsTer6)
n.446+23235del
n.2043+4510del
c.93655del (p.Arg31219AspfsTer6)
c.67549del (p.Arg22517AspfsTer6)
c.67408del (p.Arg22470AspfsTer6)
c.93451del (p.Arg31151AspfsTer6)
c.88849del (p.Arg29617AspfsTer6)
c.88846del (p.Arg29616AspfsTer6)
c.85888del (p.Arg28630AspfsTer6)
c.67504del (p.Arg22502AspfsTer6)
c.88999del (p.Arg29667AspfsTer6)
c.88996del (p.Arg29666AspfsTer6)
c.88429del (p.Arg29477AspfsTer6)
c.85771del (p.Arg28591AspfsTer6)
c.85690del (p.Arg28564AspfsTer6)
c.67453del (p.Arg22485AspfsTer6)
c.57307del (p.Arg19103AspfsTer6)
2g.178546871T>ACA430242528TTN,TTN-AS1c.86853A>T (p.Thr28951=)
c.67938A>T (p.Thr22646=)
c.67737A>T (p.Thr22579=)
c.67362A>T (p.Thr22454=)
c.94557A>T (p.Thr31519=)
c.89634A>T (p.Thr29878=)
n.446+23235T>A
n.2043+4510T>A
c.93654A>T (p.Thr31218=)
c.67548A>T (p.Thr22516=)
c.67407A>T (p.Thr22469=)
c.93450A>T (p.Thr31150=)
c.88848A>T (p.Thr29616=)
c.88845A>T (p.Thr29615=)
c.85887A>T (p.Thr28629=)
c.67503A>T (p.Thr22501=)
c.88998A>T (p.Thr29666=)
c.88995A>T (p.Thr29665=)
c.88428A>T (p.Thr29476=)
c.85770A>T (p.Thr28590=)
c.85689A>T (p.Thr28563=)
c.67452A>T (p.Thr22484=)
c.57306A>T (p.Thr19102=)
2g.178546871T>CCA430242529TTN,TTN-AS1c.86853A>G (p.Thr28951=)
c.67938A>G (p.Thr22646=)
c.67737A>G (p.Thr22579=)
c.67362A>G (p.Thr22454=)
c.94557A>G (p.Thr31519=)
c.89634A>G (p.Thr29878=)
n.446+23235T>C
n.2043+4510T>C
c.93654A>G (p.Thr31218=)
c.67548A>G (p.Thr22516=)
c.67407A>G (p.Thr22469=)
c.93450A>G (p.Thr31150=)
c.88848A>G (p.Thr29616=)
c.88845A>G (p.Thr29615=)
c.85887A>G (p.Thr28629=)
c.67503A>G (p.Thr22501=)
c.88998A>G (p.Thr29666=)
c.88995A>G (p.Thr29665=)
c.88428A>G (p.Thr29476=)
c.85770A>G (p.Thr28590=)
c.85689A>G (p.Thr28563=)
c.67452A>G (p.Thr22484=)
c.57306A>G (p.Thr19102=)
 dbSNP gnomAD v2
2g.178546871T>GCA430242530TTN,TTN-AS1c.86853A>C (p.Thr28951=)
c.67938A>C (p.Thr22646=)
c.67737A>C (p.Thr22579=)
c.67362A>C (p.Thr22454=)
c.94557A>C (p.Thr31519=)
c.89634A>C (p.Thr29878=)
n.446+23235T>G
n.2043+4510T>G
c.93654A>C (p.Thr31218=)
c.67548A>C (p.Thr22516=)
c.67407A>C (p.Thr22469=)
c.93450A>C (p.Thr31150=)
c.88848A>C (p.Thr29616=)
c.88845A>C (p.Thr29615=)
c.85887A>C (p.Thr28629=)
c.67503A>C (p.Thr22501=)
c.88998A>C (p.Thr29666=)
c.88995A>C (p.Thr29665=)
c.88428A>C (p.Thr29476=)
c.85770A>C (p.Thr28590=)
c.85689A>C (p.Thr28563=)
c.67452A>C (p.Thr22484=)
c.57306A>C (p.Thr19102=)
2g.178546871T=CA1310523482TTN,TTN-AS1c.86853A= (p.Thr28951=)
c.67938A= (p.Thr22646=)
c.67737A= (p.Thr22579=)
c.67362A= (p.Thr22454=)
c.94557A= (p.Thr31519=)
c.89634A= (p.Thr29878=)
n.446+23235T=
n.2043+4510T=
c.93654A= (p.Thr31218=)
c.67548A= (p.Thr22516=)
c.67407A= (p.Thr22469=)
c.93450A= (p.Thr31150=)
c.88848A= (p.Thr29616=)
c.88845A= (p.Thr29615=)
c.85887A= (p.Thr28629=)
c.67503A= (p.Thr22501=)
c.88998A= (p.Thr29666=)
c.88995A= (p.Thr29665=)
c.88428A= (p.Thr29476=)
c.85770A= (p.Thr28590=)
c.85689A= (p.Thr28563=)
c.67452A= (p.Thr22484=)
c.57306A= (p.Thr19102=)
2g.178546872G>ACA349472595TTN,TTN-AS1c.86852C>T (p.Thr28951Ile)
c.67937C>T (p.Thr22646Ile)
c.67736C>T (p.Thr22579Ile)
c.67361C>T (p.Thr22454Ile)
c.94556C>T (p.Thr31519Ile)
c.89633C>T (p.Thr29878Ile)
n.446+23236G>A
n.2043+4511G>A
c.93653C>T (p.Thr31218Ile)
c.67547C>T (p.Thr22516Ile)
c.67406C>T (p.Thr22469Ile)
c.93449C>T (p.Thr31150Ile)
c.88847C>T (p.Thr29616Ile)
c.88844C>T (p.Thr29615Ile)
c.85886C>T (p.Thr28629Ile)
c.67502C>T (p.Thr22501Ile)
c.88997C>T (p.Thr29666Ile)
c.88994C>T (p.Thr29665Ile)
c.88427C>T (p.Thr29476Ile)
c.85769C>T (p.Thr28590Ile)
c.85688C>T (p.Thr28563Ile)
c.67451C>T (p.Thr22484Ile)
c.57305C>T (p.Thr19102Ile)
2g.178546872G>CCA60972646TTN,TTN-AS1c.86852C>G (p.Thr28951Arg)
c.67937C>G (p.Thr22646Arg)
c.67736C>G (p.Thr22579Arg)
c.67361C>G (p.Thr22454Arg)
c.94556C>G (p.Thr31519Arg)
c.89633C>G (p.Thr29878Arg)
n.446+23236G>C
n.2043+4511G>C
c.93653C>G (p.Thr31218Arg)
c.67547C>G (p.Thr22516Arg)
c.67406C>G (p.Thr22469Arg)
c.93449C>G (p.Thr31150Arg)
c.88847C>G (p.Thr29616Arg)
c.88844C>G (p.Thr29615Arg)
c.85886C>G (p.Thr28629Arg)
c.67502C>G (p.Thr22501Arg)
c.88997C>G (p.Thr29666Arg)
c.88994C>G (p.Thr29665Arg)
c.88427C>G (p.Thr29476Arg)
c.85769C>G (p.Thr28590Arg)
c.85688C>G (p.Thr28563Arg)
c.67451C>G (p.Thr22484Arg)
c.57305C>G (p.Thr19102Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178546872G=CA1310523485TTN,TTN-AS1c.86852C= (p.Thr28951=)
c.67937C= (p.Thr22646=)
c.67736C= (p.Thr22579=)
c.67361C= (p.Thr22454=)
c.94556C= (p.Thr31519=)
c.89633C= (p.Thr29878=)
n.446+23236G=
n.2043+4511G=
c.93653C= (p.Thr31218=)
c.67547C= (p.Thr22516=)
c.67406C= (p.Thr22469=)
c.93449C= (p.Thr31150=)
c.88847C= (p.Thr29616=)
c.88844C= (p.Thr29615=)
c.85886C= (p.Thr28629=)
c.67502C= (p.Thr22501=)
c.88997C= (p.Thr29666=)
c.88994C= (p.Thr29665=)
c.88427C= (p.Thr29476=)
c.85769C= (p.Thr28590=)
c.85688C= (p.Thr28563=)
c.67451C= (p.Thr22484=)
c.57305C= (p.Thr19102=)
2g.178546872G>TCA349472581TTN,TTN-AS1c.86852C>A (p.Thr28951Lys)
c.67937C>A (p.Thr22646Lys)
c.67736C>A (p.Thr22579Lys)
c.67361C>A (p.Thr22454Lys)
c.94556C>A (p.Thr31519Lys)
c.89633C>A (p.Thr29878Lys)
n.446+23236G>T
n.2043+4511G>T
c.93653C>A (p.Thr31218Lys)
c.67547C>A (p.Thr22516Lys)
c.67406C>A (p.Thr22469Lys)
c.93449C>A (p.Thr31150Lys)
c.88847C>A (p.Thr29616Lys)
c.88844C>A (p.Thr29615Lys)
c.85886C>A (p.Thr28629Lys)
c.67502C>A (p.Thr22501Lys)
c.88997C>A (p.Thr29666Lys)
c.88994C>A (p.Thr29665Lys)
c.88427C>A (p.Thr29476Lys)
c.85769C>A (p.Thr28590Lys)
c.85688C>A (p.Thr28563Lys)
c.67451C>A (p.Thr22484Lys)
c.57305C>A (p.Thr19102Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178546873T>ACA349472616TTN,TTN-AS1c.86851A>T (p.Thr28951Ser)
c.67936A>T (p.Thr22646Ser)
c.67735A>T (p.Thr22579Ser)
c.67360A>T (p.Thr22454Ser)
c.94555A>T (p.Thr31519Ser)
c.89632A>T (p.Thr29878Ser)
n.446+23237T>A
n.2043+4512T>A
c.93652A>T (p.Thr31218Ser)
c.67546A>T (p.Thr22516Ser)
c.67405A>T (p.Thr22469Ser)
c.93448A>T (p.Thr31150Ser)
c.88846A>T (p.Thr29616Ser)
c.88843A>T (p.Thr29615Ser)
c.85885A>T (p.Thr28629Ser)
c.67501A>T (p.Thr22501Ser)
c.88996A>T (p.Thr29666Ser)
c.88993A>T (p.Thr29665Ser)
c.88426A>T (p.Thr29476Ser)
c.85768A>T (p.Thr28590Ser)
c.85687A>T (p.Thr28563Ser)
c.67450A>T (p.Thr22484Ser)
c.57304A>T (p.Thr19102Ser)
2g.178546873T>CCA349472598TTN,TTN-AS1c.86851A>G (p.Thr28951Ala)
c.67936A>G (p.Thr22646Ala)
c.67735A>G (p.Thr22579Ala)
c.67360A>G (p.Thr22454Ala)
c.94555A>G (p.Thr31519Ala)
c.89632A>G (p.Thr29878Ala)
n.446+23237T>C
n.2043+4512T>C
c.93652A>G (p.Thr31218Ala)
c.67546A>G (p.Thr22516Ala)
c.67405A>G (p.Thr22469Ala)
c.93448A>G (p.Thr31150Ala)
c.88846A>G (p.Thr29616Ala)
c.88843A>G (p.Thr29615Ala)
c.85885A>G (p.Thr28629Ala)
c.67501A>G (p.Thr22501Ala)
c.88996A>G (p.Thr29666Ala)
c.88993A>G (p.Thr29665Ala)
c.88426A>G (p.Thr29476Ala)
c.85768A>G (p.Thr28590Ala)
c.85687A>G (p.Thr28563Ala)
c.67450A>G (p.Thr22484Ala)
c.57304A>G (p.Thr19102Ala)
2g.178546873T>GCA349472600TTN,TTN-AS1c.86851A>C (p.Thr28951Pro)
c.67936A>C (p.Thr22646Pro)
c.67735A>C (p.Thr22579Pro)
c.67360A>C (p.Thr22454Pro)
c.94555A>C (p.Thr31519Pro)
c.89632A>C (p.Thr29878Pro)
n.446+23237T>G
n.2043+4512T>G
c.93652A>C (p.Thr31218Pro)
c.67546A>C (p.Thr22516Pro)
c.67405A>C (p.Thr22469Pro)
c.93448A>C (p.Thr31150Pro)
c.88846A>C (p.Thr29616Pro)
c.88843A>C (p.Thr29615Pro)
c.85885A>C (p.Thr28629Pro)
c.67501A>C (p.Thr22501Pro)
c.88996A>C (p.Thr29666Pro)
c.88993A>C (p.Thr29665Pro)
c.88426A>C (p.Thr29476Pro)
c.85768A>C (p.Thr28590Pro)
c.85687A>C (p.Thr28563Pro)
c.67450A>C (p.Thr22484Pro)
c.57304A>C (p.Thr19102Pro)
2g.178546874G>ACA430242532TTN,TTN-AS1c.86850C>T (p.Val28950=)
c.67935C>T (p.Val22645=)
c.67734C>T (p.Val22578=)
c.67359C>T (p.Val22453=)
c.94554C>T (p.Val31518=)
c.89631C>T (p.Val29877=)
n.446+23238G>A
n.2043+4513G>A
c.93651C>T (p.Val31217=)
c.67545C>T (p.Val22515=)
c.67404C>T (p.Val22468=)
c.93447C>T (p.Val31149=)
c.88845C>T (p.Val29615=)
c.88842C>T (p.Val29614=)
c.85884C>T (p.Val28628=)
c.67500C>T (p.Val22500=)
c.88995C>T (p.Val29665=)
c.88992C>T (p.Val29664=)
c.88425C>T (p.Val29475=)
c.85767C>T (p.Val28589=)
c.85686C>T (p.Val28562=)
c.67449C>T (p.Val22483=)
c.57303C>T (p.Val19101=)
2g.178546874G>CCA430242533TTN,TTN-AS1c.86850C>G (p.Val28950=)
c.67935C>G (p.Val22645=)
c.67734C>G (p.Val22578=)
c.67359C>G (p.Val22453=)
c.94554C>G (p.Val31518=)
c.89631C>G (p.Val29877=)
n.446+23238G>C
n.2043+4513G>C
c.93651C>G (p.Val31217=)
c.67545C>G (p.Val22515=)
c.67404C>G (p.Val22468=)
c.93447C>G (p.Val31149=)
c.88845C>G (p.Val29615=)
c.88842C>G (p.Val29614=)
c.85884C>G (p.Val28628=)
c.67500C>G (p.Val22500=)
c.88995C>G (p.Val29665=)
c.88992C>G (p.Val29664=)
c.88425C>G (p.Val29475=)
c.85767C>G (p.Val28589=)
c.85686C>G (p.Val28562=)
c.67449C>G (p.Val22483=)
c.57303C>G (p.Val19101=)
2g.178546874G>TCA430242531TTN,TTN-AS1c.86850C>A (p.Val28950=)
c.67935C>A (p.Val22645=)
c.67734C>A (p.Val22578=)
c.67359C>A (p.Val22453=)
c.94554C>A (p.Val31518=)
c.89631C>A (p.Val29877=)
n.446+23238G>T
n.2043+4513G>T
c.93651C>A (p.Val31217=)
c.67545C>A (p.Val22515=)
c.67404C>A (p.Val22468=)
c.93447C>A (p.Val31149=)
c.88845C>A (p.Val29615=)
c.88842C>A (p.Val29614=)
c.85884C>A (p.Val28628=)
c.67500C>A (p.Val22500=)
c.88995C>A (p.Val29665=)
c.88992C>A (p.Val29664=)
c.88425C>A (p.Val29475=)
c.85767C>A (p.Val28589=)
c.85686C>A (p.Val28562=)
c.67449C>A (p.Val22483=)
c.57303C>A (p.Val19101=)
2g.178546875A=CA1310523488TTN,TTN-AS1c.86849T= (p.Val28950=)
c.67934T= (p.Val22645=)
c.67733T= (p.Val22578=)
c.67358T= (p.Val22453=)
c.94553T= (p.Val31518=)
c.89630T= (p.Val29877=)
n.446+23239A=
n.2043+4514A=
c.93650T= (p.Val31217=)
c.67544T= (p.Val22515=)
c.67403T= (p.Val22468=)
c.93446T= (p.Val31149=)
c.88844T= (p.Val29615=)
c.88841T= (p.Val29614=)
c.85883T= (p.Val28628=)
c.67499T= (p.Val22500=)
c.88994T= (p.Val29665=)
c.88991T= (p.Val29664=)
c.88424T= (p.Val29475=)
c.85766T= (p.Val28589=)
c.85685T= (p.Val28562=)
c.67448T= (p.Val22483=)
c.57302T= (p.Val19101=)
2g.178546875A>CCA349472619TTN,TTN-AS1c.86849T>G (p.Val28950Gly)
c.67934T>G (p.Val22645Gly)
c.67733T>G (p.Val22578Gly)
c.67358T>G (p.Val22453Gly)
c.94553T>G (p.Val31518Gly)
c.89630T>G (p.Val29877Gly)
n.446+23239A>C
n.2043+4514A>C
c.93650T>G (p.Val31217Gly)
c.67544T>G (p.Val22515Gly)
c.67403T>G (p.Val22468Gly)
c.93446T>G (p.Val31149Gly)
c.88844T>G (p.Val29615Gly)
c.88841T>G (p.Val29614Gly)
c.85883T>G (p.Val28628Gly)
c.67499T>G (p.Val22500Gly)
c.88994T>G (p.Val29665Gly)
c.88991T>G (p.Val29664Gly)
c.88424T>G (p.Val29475Gly)
c.85766T>G (p.Val28589Gly)
c.85685T>G (p.Val28562Gly)
c.67448T>G (p.Val22483Gly)
c.57302T>G (p.Val19101Gly)
2g.178546875A>GCA310953TTN,TTN-AS1c.86849T>C (p.Val28950Ala)
c.67934T>C (p.Val22645Ala)
c.67733T>C (p.Val22578Ala)
c.67358T>C (p.Val22453Ala)
c.94553T>C (p.Val31518Ala)
c.89630T>C (p.Val29877Ala)
n.446+23239A>G
n.2043+4514A>G
c.93650T>C (p.Val31217Ala)
c.67544T>C (p.Val22515Ala)
c.67403T>C (p.Val22468Ala)
c.93446T>C (p.Val31149Ala)
c.88844T>C (p.Val29615Ala)
c.88841T>C (p.Val29614Ala)
c.85883T>C (p.Val28628Ala)
c.67499T>C (p.Val22500Ala)
c.88994T>C (p.Val29665Ala)
c.88991T>C (p.Val29664Ala)
c.88424T>C (p.Val29475Ala)
c.85766T>C (p.Val28589Ala)
c.85685T>C (p.Val28562Ala)
c.67448T>C (p.Val22483Ala)
c.57302T>C (p.Val19101Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178546875A>TCA349472625TTN,TTN-AS1c.86849T>A (p.Val28950Asp)
c.67934T>A (p.Val22645Asp)
c.67733T>A (p.Val22578Asp)
c.67358T>A (p.Val22453Asp)
c.94553T>A (p.Val31518Asp)
c.89630T>A (p.Val29877Asp)
n.446+23239A>T
n.2043+4514A>T
c.93650T>A (p.Val31217Asp)
c.67544T>A (p.Val22515Asp)
c.67403T>A (p.Val22468Asp)
c.93446T>A (p.Val31149Asp)
c.88844T>A (p.Val29615Asp)
c.88841T>A (p.Val29614Asp)
c.85883T>A (p.Val28628Asp)
c.67499T>A (p.Val22500Asp)
c.88994T>A (p.Val29665Asp)
c.88991T>A (p.Val29664Asp)
c.88424T>A (p.Val29475Asp)
c.85766T>A (p.Val28589Asp)
c.85685T>A (p.Val28562Asp)
c.67448T>A (p.Val22483Asp)
c.57302T>A (p.Val19101Asp)
2g.178546876C>ACA349472630TTN,TTN-AS1c.86848G>T (p.Val28950Phe)
c.67933G>T (p.Val22645Phe)
c.67732G>T (p.Val22578Phe)
c.67357G>T (p.Val22453Phe)
c.94552G>T (p.Val31518Phe)
c.89629G>T (p.Val29877Phe)
n.446+23240C>A
n.2043+4515C>A
c.93649G>T (p.Val31217Phe)
c.67543G>T (p.Val22515Phe)
c.67402G>T (p.Val22468Phe)
c.93445G>T (p.Val31149Phe)
c.88843G>T (p.Val29615Phe)
c.88840G>T (p.Val29614Phe)
c.85882G>T (p.Val28628Phe)
c.67498G>T (p.Val22500Phe)
c.88993G>T (p.Val29665Phe)
c.88990G>T (p.Val29664Phe)
c.88423G>T (p.Val29475Phe)
c.85765G>T (p.Val28589Phe)
c.85684G>T (p.Val28562Phe)
c.67447G>T (p.Val22483Phe)
c.57301G>T (p.Val19101Phe)
 gnomAD v4
2g.178546876C=CA1310523491TTN,TTN-AS1c.86848G= (p.Val28950=)
c.67933G= (p.Val22645=)
c.67732G= (p.Val22578=)
c.67357G= (p.Val22453=)
c.94552G= (p.Val31518=)
c.89629G= (p.Val29877=)
n.446+23240C=
n.2043+4515C=
c.93649G= (p.Val31217=)
c.67543G= (p.Val22515=)
c.67402G= (p.Val22468=)
c.93445G= (p.Val31149=)
c.88843G= (p.Val29615=)
c.88840G= (p.Val29614=)
c.85882G= (p.Val28628=)
c.67498G= (p.Val22500=)
c.88993G= (p.Val29665=)
c.88990G= (p.Val29664=)
c.88423G= (p.Val29475=)
c.85765G= (p.Val28589=)
c.85684G= (p.Val28562=)
c.67447G= (p.Val22483=)
c.57301G= (p.Val19101=)
2g.178546876C>GCA349472632TTN,TTN-AS1c.86848G>C (p.Val28950Leu)
c.67933G>C (p.Val22645Leu)
c.67732G>C (p.Val22578Leu)
c.67357G>C (p.Val22453Leu)
c.94552G>C (p.Val31518Leu)
c.89629G>C (p.Val29877Leu)
n.446+23240C>G
n.2043+4515C>G
c.93649G>C (p.Val31217Leu)
c.67543G>C (p.Val22515Leu)
c.67402G>C (p.Val22468Leu)
c.93445G>C (p.Val31149Leu)
c.88843G>C (p.Val29615Leu)
c.88840G>C (p.Val29614Leu)
c.85882G>C (p.Val28628Leu)
c.67498G>C (p.Val22500Leu)
c.88993G>C (p.Val29665Leu)
c.88990G>C (p.Val29664Leu)
c.88423G>C (p.Val29475Leu)
c.85765G>C (p.Val28589Leu)
c.85684G>C (p.Val28562Leu)
c.67447G>C (p.Val22483Leu)
c.57301G>C (p.Val19101Leu)
 gnomAD v4
2g.178546876C>TCA349472636TTN,TTN-AS1c.86848G>A (p.Val28950Ile)
c.67933G>A (p.Val22645Ile)
c.67732G>A (p.Val22578Ile)
c.67357G>A (p.Val22453Ile)
c.94552G>A (p.Val31518Ile)
c.89629G>A (p.Val29877Ile)
n.446+23240C>T
n.2043+4515C>T
c.93649G>A (p.Val31217Ile)
c.67543G>A (p.Val22515Ile)
c.67402G>A (p.Val22468Ile)
c.93445G>A (p.Val31149Ile)
c.88843G>A (p.Val29615Ile)
c.88840G>A (p.Val29614Ile)
c.85882G>A (p.Val28628Ile)
c.67498G>A (p.Val22500Ile)
c.88993G>A (p.Val29665Ile)
c.88990G>A (p.Val29664Ile)
c.88423G>A (p.Val29475Ile)
c.85765G>A (p.Val28589Ile)
c.85684G>A (p.Val28562Ile)
c.67447G>A (p.Val22483Ile)
c.57301G>A (p.Val19101Ile)
 dbSNP gnomAD v4
2g.178546877A>CCA349472640TTN,TTN-AS1c.86847T>G (p.Asp28949Glu)
c.67932T>G (p.Asp22644Glu)
c.67731T>G (p.Asp22577Glu)
c.67356T>G (p.Asp22452Glu)
c.94551T>G (p.Asp31517Glu)
c.89628T>G (p.Asp29876Glu)
n.446+23241A>C
n.2043+4516A>C
c.93648T>G (p.Asp31216Glu)
c.67542T>G (p.Asp22514Glu)
c.67401T>G (p.Asp22467Glu)
c.93444T>G (p.Asp31148Glu)
c.88842T>G (p.Asp29614Glu)
c.88839T>G (p.Asp29613Glu)
c.85881T>G (p.Asp28627Glu)
c.67497T>G (p.Asp22499Glu)
c.88992T>G (p.Asp29664Glu)
c.88989T>G (p.Asp29663Glu)
c.88422T>G (p.Asp29474Glu)
c.85764T>G (p.Asp28588Glu)
c.85683T>G (p.Asp28561Glu)
c.67446T>G (p.Asp22482Glu)
c.57300T>G (p.Asp19100Glu)
2g.178546877A>GCA430242534TTN,TTN-AS1c.86847T>C (p.Asp28949=)
c.67932T>C (p.Asp22644=)
c.67731T>C (p.Asp22577=)
c.67356T>C (p.Asp22452=)
c.94551T>C (p.Asp31517=)
c.89628T>C (p.Asp29876=)
n.446+23241A>G
n.2043+4516A>G
c.93648T>C (p.Asp31216=)
c.67542T>C (p.Asp22514=)
c.67401T>C (p.Asp22467=)
c.93444T>C (p.Asp31148=)
c.88842T>C (p.Asp29614=)
c.88839T>C (p.Asp29613=)
c.85881T>C (p.Asp28627=)
c.67497T>C (p.Asp22499=)
c.88992T>C (p.Asp29664=)
c.88989T>C (p.Asp29663=)
c.88422T>C (p.Asp29474=)
c.85764T>C (p.Asp28588=)
c.85683T>C (p.Asp28561=)
c.67446T>C (p.Asp22482=)
c.57300T>C (p.Asp19100=)
 gnomAD v4
2g.178546877A>TCA349472652TTN,TTN-AS1c.86847T>A (p.Asp28949Glu)
c.67932T>A (p.Asp22644Glu)
c.67731T>A (p.Asp22577Glu)
c.67356T>A (p.Asp22452Glu)
c.94551T>A (p.Asp31517Glu)
c.89628T>A (p.Asp29876Glu)
n.446+23241A>T
n.2043+4516A>T
c.93648T>A (p.Asp31216Glu)
c.67542T>A (p.Asp22514Glu)
c.67401T>A (p.Asp22467Glu)
c.93444T>A (p.Asp31148Glu)
c.88842T>A (p.Asp29614Glu)
c.88839T>A (p.Asp29613Glu)
c.85881T>A (p.Asp28627Glu)
c.67497T>A (p.Asp22499Glu)
c.88992T>A (p.Asp29664Glu)
c.88989T>A (p.Asp29663Glu)
c.88422T>A (p.Asp29474Glu)
c.85764T>A (p.Asp28588Glu)
c.85683T>A (p.Asp28561Glu)
c.67446T>A (p.Asp22482Glu)
c.57300T>A (p.Asp19100Glu)
2g.178546878T>ACA349472657TTN,TTN-AS1c.86846A>T (p.Asp28949Val)
c.67931A>T (p.Asp22644Val)
c.67730A>T (p.Asp22577Val)
c.67355A>T (p.Asp22452Val)
c.94550A>T (p.Asp31517Val)
c.89627A>T (p.Asp29876Val)
n.446+23242T>A
n.2043+4517T>A
c.93647A>T (p.Asp31216Val)
c.67541A>T (p.Asp22514Val)
c.67400A>T (p.Asp22467Val)
c.93443A>T (p.Asp31148Val)
c.88841A>T (p.Asp29614Val)
c.88838A>T (p.Asp29613Val)
c.85880A>T (p.Asp28627Val)
c.67496A>T (p.Asp22499Val)
c.88991A>T (p.Asp29664Val)
c.88988A>T (p.Asp29663Val)
c.88421A>T (p.Asp29474Val)
c.85763A>T (p.Asp28588Val)
c.85682A>T (p.Asp28561Val)
c.67445A>T (p.Asp22482Val)
c.57299A>T (p.Asp19100Val)
2g.178546878T>CCA349472673TTN,TTN-AS1c.86846A>G (p.Asp28949Gly)
c.67931A>G (p.Asp22644Gly)
c.67730A>G (p.Asp22577Gly)
c.67355A>G (p.Asp22452Gly)
c.94550A>G (p.Asp31517Gly)
c.89627A>G (p.Asp29876Gly)
n.446+23242T>C
n.2043+4517T>C
c.93647A>G (p.Asp31216Gly)
c.67541A>G (p.Asp22514Gly)
c.67400A>G (p.Asp22467Gly)
c.93443A>G (p.Asp31148Gly)
c.88841A>G (p.Asp29614Gly)
c.88838A>G (p.Asp29613Gly)
c.85880A>G (p.Asp28627Gly)
c.67496A>G (p.Asp22499Gly)
c.88991A>G (p.Asp29664Gly)
c.88988A>G (p.Asp29663Gly)
c.88421A>G (p.Asp29474Gly)
c.85763A>G (p.Asp28588Gly)
c.85682A>G (p.Asp28561Gly)
c.67445A>G (p.Asp22482Gly)
c.57299A>G (p.Asp19100Gly)
2g.178546878T>GCA349472678TTN,TTN-AS1c.86846A>C (p.Asp28949Ala)
c.67931A>C (p.Asp22644Ala)
c.67730A>C (p.Asp22577Ala)
c.67355A>C (p.Asp22452Ala)
c.94550A>C (p.Asp31517Ala)
c.89627A>C (p.Asp29876Ala)
n.446+23242T>G
n.2043+4517T>G
c.93647A>C (p.Asp31216Ala)
c.67541A>C (p.Asp22514Ala)
c.67400A>C (p.Asp22467Ala)
c.93443A>C (p.Asp31148Ala)
c.88841A>C (p.Asp29614Ala)
c.88838A>C (p.Asp29613Ala)
c.85880A>C (p.Asp28627Ala)
c.67496A>C (p.Asp22499Ala)
c.88991A>C (p.Asp29664Ala)
c.88988A>C (p.Asp29663Ala)
c.88421A>C (p.Asp29474Ala)
c.85763A>C (p.Asp28588Ala)
c.85682A>C (p.Asp28561Ala)
c.67445A>C (p.Asp22482Ala)
c.57299A>C (p.Asp19100Ala)
2g.178546879C>ACA349472693TTN,TTN-AS1c.86845G>T (p.Asp28949Tyr)
c.67930G>T (p.Asp22644Tyr)
c.67729G>T (p.Asp22577Tyr)
c.67354G>T (p.Asp22452Tyr)
c.94549G>T (p.Asp31517Tyr)
c.89626G>T (p.Asp29876Tyr)
n.446+23243C>A
n.2043+4518C>A
c.93646G>T (p.Asp31216Tyr)
c.67540G>T (p.Asp22514Tyr)
c.67399G>T (p.Asp22467Tyr)
c.93442G>T (p.Asp31148Tyr)
c.88840G>T (p.Asp29614Tyr)
c.88837G>T (p.Asp29613Tyr)
c.85879G>T (p.Asp28627Tyr)
c.67495G>T (p.Asp22499Tyr)
c.88990G>T (p.Asp29664Tyr)
c.88987G>T (p.Asp29663Tyr)
c.88420G>T (p.Asp29474Tyr)
c.85762G>T (p.Asp28588Tyr)
c.85681G>T (p.Asp28561Tyr)
c.67444G>T (p.Asp22482Tyr)
c.57298G>T (p.Asp19100Tyr)
2g.178546879C=CA1310523494TTN,TTN-AS1c.86845G= (p.Asp28949=)
c.67930G= (p.Asp22644=)
c.67729G= (p.Asp22577=)
c.67354G= (p.Asp22452=)
c.94549G= (p.Asp31517=)
c.89626G= (p.Asp29876=)
n.446+23243C=
n.2043+4518C=
c.93646G= (p.Asp31216=)
c.67540G= (p.Asp22514=)
c.67399G= (p.Asp22467=)
c.93442G= (p.Asp31148=)
c.88840G= (p.Asp29614=)
c.88837G= (p.Asp29613=)
c.85879G= (p.Asp28627=)
c.67495G= (p.Asp22499=)
c.88990G= (p.Asp29664=)
c.88987G= (p.Asp29663=)
c.88420G= (p.Asp29474=)
c.85762G= (p.Asp28588=)
c.85681G= (p.Asp28561=)
c.67444G= (p.Asp22482=)
c.57298G= (p.Asp19100=)
2g.178546879C>GCA349472681TTN,TTN-AS1c.86845G>C (p.Asp28949His)
c.67930G>C (p.Asp22644His)
c.67729G>C (p.Asp22577His)
c.67354G>C (p.Asp22452His)
c.94549G>C (p.Asp31517His)
c.89626G>C (p.Asp29876His)
n.446+23243C>G
n.2043+4518C>G
c.93646G>C (p.Asp31216His)
c.67540G>C (p.Asp22514His)
c.67399G>C (p.Asp22467His)
c.93442G>C (p.Asp31148His)
c.88840G>C (p.Asp29614His)
c.88837G>C (p.Asp29613His)
c.85879G>C (p.Asp28627His)
c.67495G>C (p.Asp22499His)
c.88990G>C (p.Asp29664His)
c.88987G>C (p.Asp29663His)
c.88420G>C (p.Asp29474His)
c.85762G>C (p.Asp28588His)
c.85681G>C (p.Asp28561His)
c.67444G>C (p.Asp22482His)
c.57298G>C (p.Asp19100His)
2g.178546879C>TCA1987101TTN,TTN-AS1c.86845G>A (p.Asp28949Asn)
c.67930G>A (p.Asp22644Asn)
c.67729G>A (p.Asp22577Asn)
c.67354G>A (p.Asp22452Asn)
c.94549G>A (p.Asp31517Asn)
c.89626G>A (p.Asp29876Asn)
n.446+23243C>T
n.2043+4518C>T
c.93646G>A (p.Asp31216Asn)
c.67540G>A (p.Asp22514Asn)
c.67399G>A (p.Asp22467Asn)
c.93442G>A (p.Asp31148Asn)
c.88840G>A (p.Asp29614Asn)
c.88837G>A (p.Asp29613Asn)
c.85879G>A (p.Asp28627Asn)
c.67495G>A (p.Asp22499Asn)
c.88990G>A (p.Asp29664Asn)
c.88987G>A (p.Asp29663Asn)
c.88420G>A (p.Asp29474Asn)
c.85762G>A (p.Asp28588Asn)
c.85681G>A (p.Asp28561Asn)
c.67444G>A (p.Asp22482Asn)
c.57298G>A (p.Asp19100Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178546880T>ACA430242535TTN,TTN-AS1c.86844A>T (p.Thr28948=)
c.67929A>T (p.Thr22643=)
c.67728A>T (p.Thr22576=)
c.67353A>T (p.Thr22451=)
c.94548A>T (p.Thr31516=)
c.89625A>T (p.Thr29875=)
n.446+23244T>A
n.2043+4519T>A
c.93645A>T (p.Thr31215=)
c.67539A>T (p.Thr22513=)
c.67398A>T (p.Thr22466=)
c.93441A>T (p.Thr31147=)
c.88839A>T (p.Thr29613=)
c.88836A>T (p.Thr29612=)
c.85878A>T (p.Thr28626=)
c.67494A>T (p.Thr22498=)
c.88989A>T (p.Thr29663=)
c.88986A>T (p.Thr29662=)
c.88419A>T (p.Thr29473=)
c.85761A>T (p.Thr28587=)
c.85680A>T (p.Thr28560=)
c.67443A>T (p.Thr22481=)
c.57297A>T (p.Thr19099=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178546880T>CCA430242536TTN,TTN-AS1c.86844A>G (p.Thr28948=)
c.67929A>G (p.Thr22643=)
c.67728A>G (p.Thr22576=)
c.67353A>G (p.Thr22451=)
c.94548A>G (p.Thr31516=)
c.89625A>G (p.Thr29875=)
n.446+23244T>C
n.2043+4519T>C
c.93645A>G (p.Thr31215=)
c.67539A>G (p.Thr22513=)
c.67398A>G (p.Thr22466=)
c.93441A>G (p.Thr31147=)
c.88839A>G (p.Thr29613=)
c.88836A>G (p.Thr29612=)
c.85878A>G (p.Thr28626=)
c.67494A>G (p.Thr22498=)
c.88989A>G (p.Thr29663=)
c.88986A>G (p.Thr29662=)
c.88419A>G (p.Thr29473=)
c.85761A>G (p.Thr28587=)
c.85680A>G (p.Thr28560=)
c.67443A>G (p.Thr22481=)
c.57297A>G (p.Thr19099=)
2g.178546880T>GCA430242537TTN,TTN-AS1c.86844A>C (p.Thr28948=)
c.67929A>C (p.Thr22643=)
c.67728A>C (p.Thr22576=)
c.67353A>C (p.Thr22451=)
c.94548A>C (p.Thr31516=)
c.89625A>C (p.Thr29875=)
n.446+23244T>G
n.2043+4519T>G
c.93645A>C (p.Thr31215=)
c.67539A>C (p.Thr22513=)
c.67398A>C (p.Thr22466=)
c.93441A>C (p.Thr31147=)
c.88839A>C (p.Thr29613=)
c.88836A>C (p.Thr29612=)
c.85878A>C (p.Thr28626=)
c.67494A>C (p.Thr22498=)
c.88989A>C (p.Thr29663=)
c.88986A>C (p.Thr29662=)
c.88419A>C (p.Thr29473=)
c.85761A>C (p.Thr28587=)
c.85680A>C (p.Thr28560=)
c.67443A>C (p.Thr22481=)
c.57297A>C (p.Thr19099=)
 ClinVar dbSNP

Number of alleles fetched