Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178537172T>ACA349427117TTN,TTN-AS1c.92233A>T (p.Lys30745Ter)
c.73318A>T (p.Lys24440Ter)
c.73117A>T (p.Lys24373Ter)
c.72742A>T (p.Lys24248Ter)
c.99937A>T (p.Lys33313Ter)
c.95014A>T (p.Lys31672Ter)
n.446+13536T>A
n.317-189T>A
c.99034A>T (p.Lys33012Ter)
c.72928A>T (p.Lys24310Ter)
c.72787A>T (p.Lys24263Ter)
c.98830A>T (p.Lys32944Ter)
c.94228A>T (p.Lys31410Ter)
c.94225A>T (p.Lys31409Ter)
c.91267A>T (p.Lys30423Ter)
c.72883A>T (p.Lys24295Ter)
c.94378A>T (p.Lys31460Ter)
c.94375A>T (p.Lys31459Ter)
c.93808A>T (p.Lys31270Ter)
c.91150A>T (p.Lys30384Ter)
c.91069A>T (p.Lys30357Ter)
c.72832A>T (p.Lys24278Ter)
c.62686A>T (p.Lys20896Ter)
2g.178537172T>CCA349427118TTN,TTN-AS1c.92233A>G (p.Lys30745Glu)
c.73318A>G (p.Lys24440Glu)
c.73117A>G (p.Lys24373Glu)
c.72742A>G (p.Lys24248Glu)
c.99937A>G (p.Lys33313Glu)
c.95014A>G (p.Lys31672Glu)
n.446+13536T>C
n.317-189T>C
c.99034A>G (p.Lys33012Glu)
c.72928A>G (p.Lys24310Glu)
c.72787A>G (p.Lys24263Glu)
c.98830A>G (p.Lys32944Glu)
c.94228A>G (p.Lys31410Glu)
c.94225A>G (p.Lys31409Glu)
c.91267A>G (p.Lys30423Glu)
c.72883A>G (p.Lys24295Glu)
c.94378A>G (p.Lys31460Glu)
c.94375A>G (p.Lys31459Glu)
c.93808A>G (p.Lys31270Glu)
c.91150A>G (p.Lys30384Glu)
c.91069A>G (p.Lys30357Glu)
c.72832A>G (p.Lys24278Glu)
c.62686A>G (p.Lys20896Glu)
2g.178537172T>GCA349427119TTN,TTN-AS1c.92233A>C (p.Lys30745Gln)
c.73318A>C (p.Lys24440Gln)
c.73117A>C (p.Lys24373Gln)
c.72742A>C (p.Lys24248Gln)
c.99937A>C (p.Lys33313Gln)
c.95014A>C (p.Lys31672Gln)
n.446+13536T>G
n.317-189T>G
c.99034A>C (p.Lys33012Gln)
c.72928A>C (p.Lys24310Gln)
c.72787A>C (p.Lys24263Gln)
c.98830A>C (p.Lys32944Gln)
c.94228A>C (p.Lys31410Gln)
c.94225A>C (p.Lys31409Gln)
c.91267A>C (p.Lys30423Gln)
c.72883A>C (p.Lys24295Gln)
c.94378A>C (p.Lys31460Gln)
c.94375A>C (p.Lys31459Gln)
c.93808A>C (p.Lys31270Gln)
c.91150A>C (p.Lys30384Gln)
c.91069A>C (p.Lys30357Gln)
c.72832A>C (p.Lys24278Gln)
c.62686A>C (p.Lys20896Gln)
2g.178537173C>ACA349427120TTN,TTN-AS1c.92232G>T (p.Trp30744Cys)
c.73317G>T (p.Trp24439Cys)
c.73116G>T (p.Trp24372Cys)
c.72741G>T (p.Trp24247Cys)
c.99936G>T (p.Trp33312Cys)
c.95013G>T (p.Trp31671Cys)
n.446+13537C>A
n.317-188C>A
c.99033G>T (p.Trp33011Cys)
c.72927G>T (p.Trp24309Cys)
c.72786G>T (p.Trp24262Cys)
c.98829G>T (p.Trp32943Cys)
c.94227G>T (p.Trp31409Cys)
c.94224G>T (p.Trp31408Cys)
c.91266G>T (p.Trp30422Cys)
c.72882G>T (p.Trp24294Cys)
c.94377G>T (p.Trp31459Cys)
c.94374G>T (p.Trp31458Cys)
c.93807G>T (p.Trp31269Cys)
c.91149G>T (p.Trp30383Cys)
c.91068G>T (p.Trp30356Cys)
c.72831G>T (p.Trp24277Cys)
c.62685G>T (p.Trp20895Cys)
2g.178537173C=CA1310515282TTN,TTN-AS1c.92232G= (p.Trp30744=)
c.73317G= (p.Trp24439=)
c.73116G= (p.Trp24372=)
c.72741G= (p.Trp24247=)
c.99936G= (p.Trp33312=)
c.95013G= (p.Trp31671=)
n.446+13537C=
n.317-188C=
c.99033G= (p.Trp33011=)
c.72927G= (p.Trp24309=)
c.72786G= (p.Trp24262=)
c.98829G= (p.Trp32943=)
c.94227G= (p.Trp31409=)
c.94224G= (p.Trp31408=)
c.91266G= (p.Trp30422=)
c.72882G= (p.Trp24294=)
c.94377G= (p.Trp31459=)
c.94374G= (p.Trp31458=)
c.93807G= (p.Trp31269=)
c.91149G= (p.Trp30383=)
c.91068G= (p.Trp30356=)
c.72831G= (p.Trp24277=)
c.62685G= (p.Trp20895=)
2g.178537173C>GCA349427121TTN,TTN-AS1c.92232G>C (p.Trp30744Cys)
c.73317G>C (p.Trp24439Cys)
c.73116G>C (p.Trp24372Cys)
c.72741G>C (p.Trp24247Cys)
c.99936G>C (p.Trp33312Cys)
c.95013G>C (p.Trp31671Cys)
n.446+13537C>G
n.317-188C>G
c.99033G>C (p.Trp33011Cys)
c.72927G>C (p.Trp24309Cys)
c.72786G>C (p.Trp24262Cys)
c.98829G>C (p.Trp32943Cys)
c.94227G>C (p.Trp31409Cys)
c.94224G>C (p.Trp31408Cys)
c.91266G>C (p.Trp30422Cys)
c.72882G>C (p.Trp24294Cys)
c.94377G>C (p.Trp31459Cys)
c.94374G>C (p.Trp31458Cys)
c.93807G>C (p.Trp31269Cys)
c.91149G>C (p.Trp30383Cys)
c.91068G>C (p.Trp30356Cys)
c.72831G>C (p.Trp24277Cys)
c.62685G>C (p.Trp20895Cys)
2g.178537173C>TCA349427122TTN,TTN-AS1c.92232G>A (p.Trp30744Ter)
c.73317G>A (p.Trp24439Ter)
c.73116G>A (p.Trp24372Ter)
c.72741G>A (p.Trp24247Ter)
c.99936G>A (p.Trp33312Ter)
c.95013G>A (p.Trp31671Ter)
n.446+13537C>T
n.317-188C>T
c.99033G>A (p.Trp33011Ter)
c.72927G>A (p.Trp24309Ter)
c.72786G>A (p.Trp24262Ter)
c.98829G>A (p.Trp32943Ter)
c.94227G>A (p.Trp31409Ter)
c.94224G>A (p.Trp31408Ter)
c.91266G>A (p.Trp30422Ter)
c.72882G>A (p.Trp24294Ter)
c.94377G>A (p.Trp31459Ter)
c.94374G>A (p.Trp31458Ter)
c.93807G>A (p.Trp31269Ter)
c.91149G>A (p.Trp30383Ter)
c.91068G>A (p.Trp30356Ter)
c.72831G>A (p.Trp24277Ter)
c.62685G>A (p.Trp20895Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537174C>ACA349427123TTN,TTN-AS1c.92231G>T (p.Trp30744Leu)
c.73316G>T (p.Trp24439Leu)
c.73115G>T (p.Trp24372Leu)
c.72740G>T (p.Trp24247Leu)
c.99935G>T (p.Trp33312Leu)
c.95012G>T (p.Trp31671Leu)
n.446+13538C>A
n.317-187C>A
c.99032G>T (p.Trp33011Leu)
c.72926G>T (p.Trp24309Leu)
c.72785G>T (p.Trp24262Leu)
c.98828G>T (p.Trp32943Leu)
c.94226G>T (p.Trp31409Leu)
c.94223G>T (p.Trp31408Leu)
c.91265G>T (p.Trp30422Leu)
c.72881G>T (p.Trp24294Leu)
c.94376G>T (p.Trp31459Leu)
c.94373G>T (p.Trp31458Leu)
c.93806G>T (p.Trp31269Leu)
c.91148G>T (p.Trp30383Leu)
c.91067G>T (p.Trp30356Leu)
c.72830G>T (p.Trp24277Leu)
c.62684G>T (p.Trp20895Leu)
2g.178537174C>GCA349427125TTN,TTN-AS1c.92231G>C (p.Trp30744Ser)
c.73316G>C (p.Trp24439Ser)
c.73115G>C (p.Trp24372Ser)
c.72740G>C (p.Trp24247Ser)
c.99935G>C (p.Trp33312Ser)
c.95012G>C (p.Trp31671Ser)
n.446+13538C>G
n.317-187C>G
c.99032G>C (p.Trp33011Ser)
c.72926G>C (p.Trp24309Ser)
c.72785G>C (p.Trp24262Ser)
c.98828G>C (p.Trp32943Ser)
c.94226G>C (p.Trp31409Ser)
c.94223G>C (p.Trp31408Ser)
c.91265G>C (p.Trp30422Ser)
c.72881G>C (p.Trp24294Ser)
c.94376G>C (p.Trp31459Ser)
c.94373G>C (p.Trp31458Ser)
c.93806G>C (p.Trp31269Ser)
c.91148G>C (p.Trp30383Ser)
c.91067G>C (p.Trp30356Ser)
c.72830G>C (p.Trp24277Ser)
c.62684G>C (p.Trp20895Ser)
2g.178537174C>TCA349427124TTN,TTN-AS1c.92231G>A (p.Trp30744Ter)
c.73316G>A (p.Trp24439Ter)
c.73115G>A (p.Trp24372Ter)
c.72740G>A (p.Trp24247Ter)
c.99935G>A (p.Trp33312Ter)
c.95012G>A (p.Trp31671Ter)
n.446+13538C>T
n.317-187C>T
c.99032G>A (p.Trp33011Ter)
c.72926G>A (p.Trp24309Ter)
c.72785G>A (p.Trp24262Ter)
c.98828G>A (p.Trp32943Ter)
c.94226G>A (p.Trp31409Ter)
c.94223G>A (p.Trp31408Ter)
c.91265G>A (p.Trp30422Ter)
c.72881G>A (p.Trp24294Ter)
c.94376G>A (p.Trp31459Ter)
c.94373G>A (p.Trp31458Ter)
c.93806G>A (p.Trp31269Ter)
c.91148G>A (p.Trp30383Ter)
c.91067G>A (p.Trp30356Ter)
c.72830G>A (p.Trp24277Ter)
c.62684G>A (p.Trp20895Ter)
 ClinVar dbSNP
2g.178537175A>CCA349427126TTN,TTN-AS1c.92230T>G (p.Trp30744Gly)
c.73315T>G (p.Trp24439Gly)
c.73114T>G (p.Trp24372Gly)
c.72739T>G (p.Trp24247Gly)
c.99934T>G (p.Trp33312Gly)
c.95011T>G (p.Trp31671Gly)
n.446+13539A>C
n.317-186A>C
c.99031T>G (p.Trp33011Gly)
c.72925T>G (p.Trp24309Gly)
c.72784T>G (p.Trp24262Gly)
c.98827T>G (p.Trp32943Gly)
c.94225T>G (p.Trp31409Gly)
c.94222T>G (p.Trp31408Gly)
c.91264T>G (p.Trp30422Gly)
c.72880T>G (p.Trp24294Gly)
c.94375T>G (p.Trp31459Gly)
c.94372T>G (p.Trp31458Gly)
c.93805T>G (p.Trp31269Gly)
c.91147T>G (p.Trp30383Gly)
c.91066T>G (p.Trp30356Gly)
c.72829T>G (p.Trp24277Gly)
c.62683T>G (p.Trp20895Gly)
2g.178537175A>GCA349427127TTN,TTN-AS1c.92230T>C (p.Trp30744Arg)
c.73315T>C (p.Trp24439Arg)
c.73114T>C (p.Trp24372Arg)
c.72739T>C (p.Trp24247Arg)
c.99934T>C (p.Trp33312Arg)
c.95011T>C (p.Trp31671Arg)
n.446+13539A>G
n.317-186A>G
c.99031T>C (p.Trp33011Arg)
c.72925T>C (p.Trp24309Arg)
c.72784T>C (p.Trp24262Arg)
c.98827T>C (p.Trp32943Arg)
c.94225T>C (p.Trp31409Arg)
c.94222T>C (p.Trp31408Arg)
c.91264T>C (p.Trp30422Arg)
c.72880T>C (p.Trp24294Arg)
c.94375T>C (p.Trp31459Arg)
c.94372T>C (p.Trp31458Arg)
c.93805T>C (p.Trp31269Arg)
c.91147T>C (p.Trp30383Arg)
c.91066T>C (p.Trp30356Arg)
c.72829T>C (p.Trp24277Arg)
c.62683T>C (p.Trp20895Arg)
2g.178537175A>TCA349427128TTN,TTN-AS1c.92230T>A (p.Trp30744Arg)
c.73315T>A (p.Trp24439Arg)
c.73114T>A (p.Trp24372Arg)
c.72739T>A (p.Trp24247Arg)
c.99934T>A (p.Trp33312Arg)
c.95011T>A (p.Trp31671Arg)
n.446+13539A>T
n.317-186A>T
c.99031T>A (p.Trp33011Arg)
c.72925T>A (p.Trp24309Arg)
c.72784T>A (p.Trp24262Arg)
c.98827T>A (p.Trp32943Arg)
c.94225T>A (p.Trp31409Arg)
c.94222T>A (p.Trp31408Arg)
c.91264T>A (p.Trp30422Arg)
c.72880T>A (p.Trp24294Arg)
c.94375T>A (p.Trp31459Arg)
c.94372T>A (p.Trp31458Arg)
c.93805T>A (p.Trp31269Arg)
c.91147T>A (p.Trp30383Arg)
c.91066T>A (p.Trp30356Arg)
c.72829T>A (p.Trp24277Arg)
c.62683T>A (p.Trp20895Arg)
2g.178537176G>ACA1986106TTN,TTN-AS1c.92229C>T (p.Ser30743=)
c.73314C>T (p.Ser24438=)
c.73113C>T (p.Ser24371=)
c.72738C>T (p.Ser24246=)
c.99933C>T (p.Ser33311=)
c.95010C>T (p.Ser31670=)
n.446+13540G>A
n.317-185G>A
c.99030C>T (p.Ser33010=)
c.72924C>T (p.Ser24308=)
c.72783C>T (p.Ser24261=)
c.98826C>T (p.Ser32942=)
c.94224C>T (p.Ser31408=)
c.94221C>T (p.Ser31407=)
c.91263C>T (p.Ser30421=)
c.72879C>T (p.Ser24293=)
c.94374C>T (p.Ser31458=)
c.94371C>T (p.Ser31457=)
c.93804C>T (p.Ser31268=)
c.91146C>T (p.Ser30382=)
c.91065C>T (p.Ser30355=)
c.72828C>T (p.Ser24276=)
c.62682C>T (p.Ser20894=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537176G>CCA349427129TTN,TTN-AS1c.92229C>G (p.Ser30743Arg)
c.73314C>G (p.Ser24438Arg)
c.73113C>G (p.Ser24371Arg)
c.72738C>G (p.Ser24246Arg)
c.99933C>G (p.Ser33311Arg)
c.95010C>G (p.Ser31670Arg)
n.446+13540G>C
n.317-185G>C
c.99030C>G (p.Ser33010Arg)
c.72924C>G (p.Ser24308Arg)
c.72783C>G (p.Ser24261Arg)
c.98826C>G (p.Ser32942Arg)
c.94224C>G (p.Ser31408Arg)
c.94221C>G (p.Ser31407Arg)
c.91263C>G (p.Ser30421Arg)
c.72879C>G (p.Ser24293Arg)
c.94374C>G (p.Ser31458Arg)
c.94371C>G (p.Ser31457Arg)
c.93804C>G (p.Ser31268Arg)
c.91146C>G (p.Ser30382Arg)
c.91065C>G (p.Ser30355Arg)
c.72828C>G (p.Ser24276Arg)
c.62682C>G (p.Ser20894Arg)
2g.178537176G=CA1310515284TTN,TTN-AS1c.92229C= (p.Ser30743=)
c.73314C= (p.Ser24438=)
c.73113C= (p.Ser24371=)
c.72738C= (p.Ser24246=)
c.99933C= (p.Ser33311=)
c.95010C= (p.Ser31670=)
n.446+13540G=
n.317-185G=
c.99030C= (p.Ser33010=)
c.72924C= (p.Ser24308=)
c.72783C= (p.Ser24261=)
c.98826C= (p.Ser32942=)
c.94224C= (p.Ser31408=)
c.94221C= (p.Ser31407=)
c.91263C= (p.Ser30421=)
c.72879C= (p.Ser24293=)
c.94374C= (p.Ser31458=)
c.94371C= (p.Ser31457=)
c.93804C= (p.Ser31268=)
c.91146C= (p.Ser30382=)
c.91065C= (p.Ser30355=)
c.72828C= (p.Ser24276=)
c.62682C= (p.Ser20894=)
2g.178537176G>TCA349427130TTN,TTN-AS1c.92229C>A (p.Ser30743Arg)
c.73314C>A (p.Ser24438Arg)
c.73113C>A (p.Ser24371Arg)
c.72738C>A (p.Ser24246Arg)
c.99933C>A (p.Ser33311Arg)
c.95010C>A (p.Ser31670Arg)
n.446+13540G>T
n.317-185G>T
c.99030C>A (p.Ser33010Arg)
c.72924C>A (p.Ser24308Arg)
c.72783C>A (p.Ser24261Arg)
c.98826C>A (p.Ser32942Arg)
c.94224C>A (p.Ser31408Arg)
c.94221C>A (p.Ser31407Arg)
c.91263C>A (p.Ser30421Arg)
c.72879C>A (p.Ser24293Arg)
c.94374C>A (p.Ser31458Arg)
c.94371C>A (p.Ser31457Arg)
c.93804C>A (p.Ser31268Arg)
c.91146C>A (p.Ser30382Arg)
c.91065C>A (p.Ser30355Arg)
c.72828C>A (p.Ser24276Arg)
c.62682C>A (p.Ser20894Arg)
2g.178537177C>ACA349427131TTN,TTN-AS1c.92228G>T (p.Ser30743Ile)
c.73313G>T (p.Ser24438Ile)
c.73112G>T (p.Ser24371Ile)
c.72737G>T (p.Ser24246Ile)
c.99932G>T (p.Ser33311Ile)
c.95009G>T (p.Ser31670Ile)
n.446+13541C>A
n.317-184C>A
c.99029G>T (p.Ser33010Ile)
c.72923G>T (p.Ser24308Ile)
c.72782G>T (p.Ser24261Ile)
c.98825G>T (p.Ser32942Ile)
c.94223G>T (p.Ser31408Ile)
c.94220G>T (p.Ser31407Ile)
c.91262G>T (p.Ser30421Ile)
c.72878G>T (p.Ser24293Ile)
c.94373G>T (p.Ser31458Ile)
c.94370G>T (p.Ser31457Ile)
c.93803G>T (p.Ser31268Ile)
c.91145G>T (p.Ser30382Ile)
c.91064G>T (p.Ser30355Ile)
c.72827G>T (p.Ser24276Ile)
c.62681G>T (p.Ser20894Ile)
2g.178537177C>GCA349427132TTN,TTN-AS1c.92228G>C (p.Ser30743Thr)
c.73313G>C (p.Ser24438Thr)
c.73112G>C (p.Ser24371Thr)
c.72737G>C (p.Ser24246Thr)
c.99932G>C (p.Ser33311Thr)
c.95009G>C (p.Ser31670Thr)
n.446+13541C>G
n.317-184C>G
c.99029G>C (p.Ser33010Thr)
c.72923G>C (p.Ser24308Thr)
c.72782G>C (p.Ser24261Thr)
c.98825G>C (p.Ser32942Thr)
c.94223G>C (p.Ser31408Thr)
c.94220G>C (p.Ser31407Thr)
c.91262G>C (p.Ser30421Thr)
c.72878G>C (p.Ser24293Thr)
c.94373G>C (p.Ser31458Thr)
c.94370G>C (p.Ser31457Thr)
c.93803G>C (p.Ser31268Thr)
c.91145G>C (p.Ser30382Thr)
c.91064G>C (p.Ser30355Thr)
c.72827G>C (p.Ser24276Thr)
c.62681G>C (p.Ser20894Thr)
2g.178537177C>TCA349427133TTN,TTN-AS1c.92228G>A (p.Ser30743Asn)
c.73313G>A (p.Ser24438Asn)
c.73112G>A (p.Ser24371Asn)
c.72737G>A (p.Ser24246Asn)
c.99932G>A (p.Ser33311Asn)
c.95009G>A (p.Ser31670Asn)
n.446+13541C>T
n.317-184C>T
c.99029G>A (p.Ser33010Asn)
c.72923G>A (p.Ser24308Asn)
c.72782G>A (p.Ser24261Asn)
c.98825G>A (p.Ser32942Asn)
c.94223G>A (p.Ser31408Asn)
c.94220G>A (p.Ser31407Asn)
c.91262G>A (p.Ser30421Asn)
c.72878G>A (p.Ser24293Asn)
c.94373G>A (p.Ser31458Asn)
c.94370G>A (p.Ser31457Asn)
c.93803G>A (p.Ser31268Asn)
c.91145G>A (p.Ser30382Asn)
c.91064G>A (p.Ser30355Asn)
c.72827G>A (p.Ser24276Asn)
c.62681G>A (p.Ser20894Asn)
2g.178537178T>ACA349427134TTN,TTN-AS1c.92227A>T (p.Ser30743Cys)
c.73312A>T (p.Ser24438Cys)
c.73111A>T (p.Ser24371Cys)
c.72736A>T (p.Ser24246Cys)
c.99931A>T (p.Ser33311Cys)
c.95008A>T (p.Ser31670Cys)
n.446+13542T>A
n.317-183T>A
c.99028A>T (p.Ser33010Cys)
c.72922A>T (p.Ser24308Cys)
c.72781A>T (p.Ser24261Cys)
c.98824A>T (p.Ser32942Cys)
c.94222A>T (p.Ser31408Cys)
c.94219A>T (p.Ser31407Cys)
c.91261A>T (p.Ser30421Cys)
c.72877A>T (p.Ser24293Cys)
c.94372A>T (p.Ser31458Cys)
c.94369A>T (p.Ser31457Cys)
c.93802A>T (p.Ser31268Cys)
c.91144A>T (p.Ser30382Cys)
c.91063A>T (p.Ser30355Cys)
c.72826A>T (p.Ser24276Cys)
c.62680A>T (p.Ser20894Cys)
2g.178537178T>CCA349427135TTN,TTN-AS1c.92227A>G (p.Ser30743Gly)
c.73312A>G (p.Ser24438Gly)
c.73111A>G (p.Ser24371Gly)
c.72736A>G (p.Ser24246Gly)
c.99931A>G (p.Ser33311Gly)
c.95008A>G (p.Ser31670Gly)
n.446+13542T>C
n.317-183T>C
c.99028A>G (p.Ser33010Gly)
c.72922A>G (p.Ser24308Gly)
c.72781A>G (p.Ser24261Gly)
c.98824A>G (p.Ser32942Gly)
c.94222A>G (p.Ser31408Gly)
c.94219A>G (p.Ser31407Gly)
c.91261A>G (p.Ser30421Gly)
c.72877A>G (p.Ser24293Gly)
c.94372A>G (p.Ser31458Gly)
c.94369A>G (p.Ser31457Gly)
c.93802A>G (p.Ser31268Gly)
c.91144A>G (p.Ser30382Gly)
c.91063A>G (p.Ser30355Gly)
c.72826A>G (p.Ser24276Gly)
c.62680A>G (p.Ser20894Gly)
 ClinVar
2g.178537178T>GCA349427136TTN,TTN-AS1c.92227A>C (p.Ser30743Arg)
c.73312A>C (p.Ser24438Arg)
c.73111A>C (p.Ser24371Arg)
c.72736A>C (p.Ser24246Arg)
c.99931A>C (p.Ser33311Arg)
c.95008A>C (p.Ser31670Arg)
n.446+13542T>G
n.317-183T>G
c.99028A>C (p.Ser33010Arg)
c.72922A>C (p.Ser24308Arg)
c.72781A>C (p.Ser24261Arg)
c.98824A>C (p.Ser32942Arg)
c.94222A>C (p.Ser31408Arg)
c.94219A>C (p.Ser31407Arg)
c.91261A>C (p.Ser30421Arg)
c.72877A>C (p.Ser24293Arg)
c.94372A>C (p.Ser31458Arg)
c.94369A>C (p.Ser31457Arg)
c.93802A>C (p.Ser31268Arg)
c.91144A>C (p.Ser30382Arg)
c.91063A>C (p.Ser30355Arg)
c.72826A>C (p.Ser24276Arg)
c.62680A>C (p.Ser20894Arg)
2g.178537179G>ACA430238884TTN,TTN-AS1c.92226C>T (p.Ile30742=)
c.73311C>T (p.Ile24437=)
c.73110C>T (p.Ile24370=)
c.72735C>T (p.Ile24245=)
c.99930C>T (p.Ile33310=)
c.95007C>T (p.Ile31669=)
n.446+13543G>A
n.317-182G>A
c.99027C>T (p.Ile33009=)
c.72921C>T (p.Ile24307=)
c.72780C>T (p.Ile24260=)
c.98823C>T (p.Ile32941=)
c.94221C>T (p.Ile31407=)
c.94218C>T (p.Ile31406=)
c.91260C>T (p.Ile30420=)
c.72876C>T (p.Ile24292=)
c.94371C>T (p.Ile31457=)
c.94368C>T (p.Ile31456=)
c.93801C>T (p.Ile31267=)
c.91143C>T (p.Ile30381=)
c.91062C>T (p.Ile30354=)
c.72825C>T (p.Ile24275=)
c.62679C>T (p.Ile20893=)
2g.178537179G>CCA349427137TTN,TTN-AS1c.92226C>G (p.Ile30742Met)
c.73311C>G (p.Ile24437Met)
c.73110C>G (p.Ile24370Met)
c.72735C>G (p.Ile24245Met)
c.99930C>G (p.Ile33310Met)
c.95007C>G (p.Ile31669Met)
n.446+13543G>C
n.317-182G>C
c.99027C>G (p.Ile33009Met)
c.72921C>G (p.Ile24307Met)
c.72780C>G (p.Ile24260Met)
c.98823C>G (p.Ile32941Met)
c.94221C>G (p.Ile31407Met)
c.94218C>G (p.Ile31406Met)
c.91260C>G (p.Ile30420Met)
c.72876C>G (p.Ile24292Met)
c.94371C>G (p.Ile31457Met)
c.94368C>G (p.Ile31456Met)
c.93801C>G (p.Ile31267Met)
c.91143C>G (p.Ile30381Met)
c.91062C>G (p.Ile30354Met)
c.72825C>G (p.Ile24275Met)
c.62679C>G (p.Ile20893Met)
2g.178537179G>TCA430238885TTN,TTN-AS1c.92226C>A (p.Ile30742=)
c.73311C>A (p.Ile24437=)
c.73110C>A (p.Ile24370=)
c.72735C>A (p.Ile24245=)
c.99930C>A (p.Ile33310=)
c.95007C>A (p.Ile31669=)
n.446+13543G>T
n.317-182G>T
c.99027C>A (p.Ile33009=)
c.72921C>A (p.Ile24307=)
c.72780C>A (p.Ile24260=)
c.98823C>A (p.Ile32941=)
c.94221C>A (p.Ile31407=)
c.94218C>A (p.Ile31406=)
c.91260C>A (p.Ile30420=)
c.72876C>A (p.Ile24292=)
c.94371C>A (p.Ile31457=)
c.94368C>A (p.Ile31456=)
c.93801C>A (p.Ile31267=)
c.91143C>A (p.Ile30381=)
c.91062C>A (p.Ile30354=)
c.72825C>A (p.Ile24275=)
c.62679C>A (p.Ile20893=)
2g.178537180A>CCA349427140TTN,TTN-AS1c.92225T>G (p.Ile30742Ser)
c.73310T>G (p.Ile24437Ser)
c.73109T>G (p.Ile24370Ser)
c.72734T>G (p.Ile24245Ser)
c.99929T>G (p.Ile33310Ser)
c.95006T>G (p.Ile31669Ser)
n.446+13544A>C
n.317-181A>C
c.99026T>G (p.Ile33009Ser)
c.72920T>G (p.Ile24307Ser)
c.72779T>G (p.Ile24260Ser)
c.98822T>G (p.Ile32941Ser)
c.94220T>G (p.Ile31407Ser)
c.94217T>G (p.Ile31406Ser)
c.91259T>G (p.Ile30420Ser)
c.72875T>G (p.Ile24292Ser)
c.94370T>G (p.Ile31457Ser)
c.94367T>G (p.Ile31456Ser)
c.93800T>G (p.Ile31267Ser)
c.91142T>G (p.Ile30381Ser)
c.91061T>G (p.Ile30354Ser)
c.72824T>G (p.Ile24275Ser)
c.62678T>G (p.Ile20893Ser)
2g.178537180A>GCA349427138TTN,TTN-AS1c.92225T>C (p.Ile30742Thr)
c.73310T>C (p.Ile24437Thr)
c.73109T>C (p.Ile24370Thr)
c.72734T>C (p.Ile24245Thr)
c.99929T>C (p.Ile33310Thr)
c.95006T>C (p.Ile31669Thr)
n.446+13544A>G
n.317-181A>G
c.99026T>C (p.Ile33009Thr)
c.72920T>C (p.Ile24307Thr)
c.72779T>C (p.Ile24260Thr)
c.98822T>C (p.Ile32941Thr)
c.94220T>C (p.Ile31407Thr)
c.94217T>C (p.Ile31406Thr)
c.91259T>C (p.Ile30420Thr)
c.72875T>C (p.Ile24292Thr)
c.94370T>C (p.Ile31457Thr)
c.94367T>C (p.Ile31456Thr)
c.93800T>C (p.Ile31267Thr)
c.91142T>C (p.Ile30381Thr)
c.91061T>C (p.Ile30354Thr)
c.72824T>C (p.Ile24275Thr)
c.62678T>C (p.Ile20893Thr)
2g.178537180A>TCA349427139TTN,TTN-AS1c.92225T>A (p.Ile30742Asn)
c.73310T>A (p.Ile24437Asn)
c.73109T>A (p.Ile24370Asn)
c.72734T>A (p.Ile24245Asn)
c.99929T>A (p.Ile33310Asn)
c.95006T>A (p.Ile31669Asn)
n.446+13544A>T
n.317-181A>T
c.99026T>A (p.Ile33009Asn)
c.72920T>A (p.Ile24307Asn)
c.72779T>A (p.Ile24260Asn)
c.98822T>A (p.Ile32941Asn)
c.94220T>A (p.Ile31407Asn)
c.94217T>A (p.Ile31406Asn)
c.91259T>A (p.Ile30420Asn)
c.72875T>A (p.Ile24292Asn)
c.94370T>A (p.Ile31457Asn)
c.94367T>A (p.Ile31456Asn)
c.93800T>A (p.Ile31267Asn)
c.91142T>A (p.Ile30381Asn)
c.91061T>A (p.Ile30354Asn)
c.72824T>A (p.Ile24275Asn)
c.62678T>A (p.Ile20893Asn)
2g.178537181T>ACA349427141TTN,TTN-AS1c.92224A>T (p.Ile30742Phe)
c.73309A>T (p.Ile24437Phe)
c.73108A>T (p.Ile24370Phe)
c.72733A>T (p.Ile24245Phe)
c.99928A>T (p.Ile33310Phe)
c.95005A>T (p.Ile31669Phe)
n.446+13545T>A
n.317-180T>A
c.99025A>T (p.Ile33009Phe)
c.72919A>T (p.Ile24307Phe)
c.72778A>T (p.Ile24260Phe)
c.98821A>T (p.Ile32941Phe)
c.94219A>T (p.Ile31407Phe)
c.94216A>T (p.Ile31406Phe)
c.91258A>T (p.Ile30420Phe)
c.72874A>T (p.Ile24292Phe)
c.94369A>T (p.Ile31457Phe)
c.94366A>T (p.Ile31456Phe)
c.93799A>T (p.Ile31267Phe)
c.91141A>T (p.Ile30381Phe)
c.91060A>T (p.Ile30354Phe)
c.72823A>T (p.Ile24275Phe)
c.62677A>T (p.Ile20893Phe)
2g.178537181T>CCA349427142TTN,TTN-AS1c.92224A>G (p.Ile30742Val)
c.73309A>G (p.Ile24437Val)
c.73108A>G (p.Ile24370Val)
c.72733A>G (p.Ile24245Val)
c.99928A>G (p.Ile33310Val)
c.95005A>G (p.Ile31669Val)
n.446+13545T>C
n.317-180T>C
c.99025A>G (p.Ile33009Val)
c.72919A>G (p.Ile24307Val)
c.72778A>G (p.Ile24260Val)
c.98821A>G (p.Ile32941Val)
c.94219A>G (p.Ile31407Val)
c.94216A>G (p.Ile31406Val)
c.91258A>G (p.Ile30420Val)
c.72874A>G (p.Ile24292Val)
c.94369A>G (p.Ile31457Val)
c.94366A>G (p.Ile31456Val)
c.93799A>G (p.Ile31267Val)
c.91141A>G (p.Ile30381Val)
c.91060A>G (p.Ile30354Val)
c.72823A>G (p.Ile24275Val)
c.62677A>G (p.Ile20893Val)
2g.178537181T>GCA349427143TTN,TTN-AS1c.92224A>C (p.Ile30742Leu)
c.73309A>C (p.Ile24437Leu)
c.73108A>C (p.Ile24370Leu)
c.72733A>C (p.Ile24245Leu)
c.99928A>C (p.Ile33310Leu)
c.95005A>C (p.Ile31669Leu)
n.446+13545T>G
n.317-180T>G
c.99025A>C (p.Ile33009Leu)
c.72919A>C (p.Ile24307Leu)
c.72778A>C (p.Ile24260Leu)
c.98821A>C (p.Ile32941Leu)
c.94219A>C (p.Ile31407Leu)
c.94216A>C (p.Ile31406Leu)
c.91258A>C (p.Ile30420Leu)
c.72874A>C (p.Ile24292Leu)
c.94369A>C (p.Ile31457Leu)
c.94366A>C (p.Ile31456Leu)
c.93799A>C (p.Ile31267Leu)
c.91141A>C (p.Ile30381Leu)
c.91060A>C (p.Ile30354Leu)
c.72823A>C (p.Ile24275Leu)
c.62677A>C (p.Ile20893Leu)
2g.178537182C>ACA430238887TTN,TTN-AS1c.92223G>T (p.Val30741=)
c.73308G>T (p.Val24436=)
c.73107G>T (p.Val24369=)
c.72732G>T (p.Val24244=)
c.99927G>T (p.Val33309=)
c.95004G>T (p.Val31668=)
n.446+13546C>A
n.317-179C>A
c.99024G>T (p.Val33008=)
c.72918G>T (p.Val24306=)
c.72777G>T (p.Val24259=)
c.98820G>T (p.Val32940=)
c.94218G>T (p.Val31406=)
c.94215G>T (p.Val31405=)
c.91257G>T (p.Val30419=)
c.72873G>T (p.Val24291=)
c.94368G>T (p.Val31456=)
c.94365G>T (p.Val31455=)
c.93798G>T (p.Val31266=)
c.91140G>T (p.Val30380=)
c.91059G>T (p.Val30353=)
c.72822G>T (p.Val24274=)
c.62676G>T (p.Val20892=)
 gnomAD v4
2g.178537182C=CA1310515286TTN,TTN-AS1c.92223G= (p.Val30741=)
c.73308G= (p.Val24436=)
c.73107G= (p.Val24369=)
c.72732G= (p.Val24244=)
c.99927G= (p.Val33309=)
c.95004G= (p.Val31668=)
n.446+13546C=
n.317-179C=
c.99024G= (p.Val33008=)
c.72918G= (p.Val24306=)
c.72777G= (p.Val24259=)
c.98820G= (p.Val32940=)
c.94218G= (p.Val31406=)
c.94215G= (p.Val31405=)
c.91257G= (p.Val30419=)
c.72873G= (p.Val24291=)
c.94368G= (p.Val31456=)
c.94365G= (p.Val31455=)
c.93798G= (p.Val31266=)
c.91140G= (p.Val30380=)
c.91059G= (p.Val30353=)
c.72822G= (p.Val24274=)
c.62676G= (p.Val20892=)
2g.178537182C>GCA1986107TTN,TTN-AS1c.92223G>C (p.Val30741=)
c.73308G>C (p.Val24436=)
c.73107G>C (p.Val24369=)
c.72732G>C (p.Val24244=)
c.99927G>C (p.Val33309=)
c.95004G>C (p.Val31668=)
n.446+13546C>G
n.317-179C>G
c.99024G>C (p.Val33008=)
c.72918G>C (p.Val24306=)
c.72777G>C (p.Val24259=)
c.98820G>C (p.Val32940=)
c.94218G>C (p.Val31406=)
c.94215G>C (p.Val31405=)
c.91257G>C (p.Val30419=)
c.72873G>C (p.Val24291=)
c.94368G>C (p.Val31456=)
c.94365G>C (p.Val31455=)
c.93798G>C (p.Val31266=)
c.91140G>C (p.Val30380=)
c.91059G>C (p.Val30353=)
c.72822G>C (p.Val24274=)
c.62676G>C (p.Val20892=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537182C>TCA430238888TTN,TTN-AS1c.92223G>A (p.Val30741=)
c.73308G>A (p.Val24436=)
c.73107G>A (p.Val24369=)
c.72732G>A (p.Val24244=)
c.99927G>A (p.Val33309=)
c.95004G>A (p.Val31668=)
n.446+13546C>T
n.317-179C>T
c.99024G>A (p.Val33008=)
c.72918G>A (p.Val24306=)
c.72777G>A (p.Val24259=)
c.98820G>A (p.Val32940=)
c.94218G>A (p.Val31406=)
c.94215G>A (p.Val31405=)
c.91257G>A (p.Val30419=)
c.72873G>A (p.Val24291=)
c.94368G>A (p.Val31456=)
c.94365G>A (p.Val31455=)
c.93798G>A (p.Val31266=)
c.91140G>A (p.Val30380=)
c.91059G>A (p.Val30353=)
c.72822G>A (p.Val24274=)
c.62676G>A (p.Val20892=)
2g.178537183A=CA1310515288TTN,TTN-AS1c.92222T= (p.Val30741=)
c.73307T= (p.Val24436=)
c.73106T= (p.Val24369=)
c.72731T= (p.Val24244=)
c.99926T= (p.Val33309=)
c.95003T= (p.Val31668=)
n.446+13547A=
n.317-178A=
c.99023T= (p.Val33008=)
c.72917T= (p.Val24306=)
c.72776T= (p.Val24259=)
c.98819T= (p.Val32940=)
c.94217T= (p.Val31406=)
c.94214T= (p.Val31405=)
c.91256T= (p.Val30419=)
c.72872T= (p.Val24291=)
c.94367T= (p.Val31456=)
c.94364T= (p.Val31455=)
c.93797T= (p.Val31266=)
c.91139T= (p.Val30380=)
c.91058T= (p.Val30353=)
c.72821T= (p.Val24274=)
c.62675T= (p.Val20892=)
2g.178537183A>CCA349427146TTN,TTN-AS1c.92222T>G (p.Val30741Gly)
c.73307T>G (p.Val24436Gly)
c.73106T>G (p.Val24369Gly)
c.72731T>G (p.Val24244Gly)
c.99926T>G (p.Val33309Gly)
c.95003T>G (p.Val31668Gly)
n.446+13547A>C
n.317-178A>C
c.99023T>G (p.Val33008Gly)
c.72917T>G (p.Val24306Gly)
c.72776T>G (p.Val24259Gly)
c.98819T>G (p.Val32940Gly)
c.94217T>G (p.Val31406Gly)
c.94214T>G (p.Val31405Gly)
c.91256T>G (p.Val30419Gly)
c.72872T>G (p.Val24291Gly)
c.94367T>G (p.Val31456Gly)
c.94364T>G (p.Val31455Gly)
c.93797T>G (p.Val31266Gly)
c.91139T>G (p.Val30380Gly)
c.91058T>G (p.Val30353Gly)
c.72821T>G (p.Val24274Gly)
c.62675T>G (p.Val20892Gly)
2g.178537183A>GCA349427145TTN,TTN-AS1c.92222T>C (p.Val30741Ala)
c.73307T>C (p.Val24436Ala)
c.73106T>C (p.Val24369Ala)
c.72731T>C (p.Val24244Ala)
c.99926T>C (p.Val33309Ala)
c.95003T>C (p.Val31668Ala)
n.446+13547A>G
n.317-178A>G
c.99023T>C (p.Val33008Ala)
c.72917T>C (p.Val24306Ala)
c.72776T>C (p.Val24259Ala)
c.98819T>C (p.Val32940Ala)
c.94217T>C (p.Val31406Ala)
c.94214T>C (p.Val31405Ala)
c.91256T>C (p.Val30419Ala)
c.72872T>C (p.Val24291Ala)
c.94367T>C (p.Val31456Ala)
c.94364T>C (p.Val31455Ala)
c.93797T>C (p.Val31266Ala)
c.91139T>C (p.Val30380Ala)
c.91058T>C (p.Val30353Ala)
c.72821T>C (p.Val24274Ala)
c.62675T>C (p.Val20892Ala)
 dbSNP
2g.178537183A>TCA349427144TTN,TTN-AS1c.92222T>A (p.Val30741Glu)
c.73307T>A (p.Val24436Glu)
c.73106T>A (p.Val24369Glu)
c.72731T>A (p.Val24244Glu)
c.99926T>A (p.Val33309Glu)
c.95003T>A (p.Val31668Glu)
n.446+13547A>T
n.317-178A>T
c.99023T>A (p.Val33008Glu)
c.72917T>A (p.Val24306Glu)
c.72776T>A (p.Val24259Glu)
c.98819T>A (p.Val32940Glu)
c.94217T>A (p.Val31406Glu)
c.94214T>A (p.Val31405Glu)
c.91256T>A (p.Val30419Glu)
c.72872T>A (p.Val24291Glu)
c.94367T>A (p.Val31456Glu)
c.94364T>A (p.Val31455Glu)
c.93797T>A (p.Val31266Glu)
c.91139T>A (p.Val30380Glu)
c.91058T>A (p.Val30353Glu)
c.72821T>A (p.Val24274Glu)
c.62675T>A (p.Val20892Glu)
2g.178537184C>ACA349427147TTN,TTN-AS1c.92221G>T (p.Val30741Leu)
c.73306G>T (p.Val24436Leu)
c.73105G>T (p.Val24369Leu)
c.72730G>T (p.Val24244Leu)
c.99925G>T (p.Val33309Leu)
c.95002G>T (p.Val31668Leu)
n.446+13548C>A
n.317-177C>A
c.99022G>T (p.Val33008Leu)
c.72916G>T (p.Val24306Leu)
c.72775G>T (p.Val24259Leu)
c.98818G>T (p.Val32940Leu)
c.94216G>T (p.Val31406Leu)
c.94213G>T (p.Val31405Leu)
c.91255G>T (p.Val30419Leu)
c.72871G>T (p.Val24291Leu)
c.94366G>T (p.Val31456Leu)
c.94363G>T (p.Val31455Leu)
c.93796G>T (p.Val31266Leu)
c.91138G>T (p.Val30380Leu)
c.91057G>T (p.Val30353Leu)
c.72820G>T (p.Val24274Leu)
c.62674G>T (p.Val20892Leu)
2g.178537184C=CA1310515289TTN,TTN-AS1c.92221G= (p.Val30741=)
c.73306G= (p.Val24436=)
c.73105G= (p.Val24369=)
c.72730G= (p.Val24244=)
c.99925G= (p.Val33309=)
c.95002G= (p.Val31668=)
n.446+13548C=
n.317-177C=
c.99022G= (p.Val33008=)
c.72916G= (p.Val24306=)
c.72775G= (p.Val24259=)
c.98818G= (p.Val32940=)
c.94216G= (p.Val31406=)
c.94213G= (p.Val31405=)
c.91255G= (p.Val30419=)
c.72871G= (p.Val24291=)
c.94366G= (p.Val31456=)
c.94363G= (p.Val31455=)
c.93796G= (p.Val31266=)
c.91138G= (p.Val30380=)
c.91057G= (p.Val30353=)
c.72820G= (p.Val24274=)
c.62674G= (p.Val20892=)
2g.178537184C>GCA349427148TTN,TTN-AS1c.92221G>C (p.Val30741Leu)
c.73306G>C (p.Val24436Leu)
c.73105G>C (p.Val24369Leu)
c.72730G>C (p.Val24244Leu)
c.99925G>C (p.Val33309Leu)
c.95002G>C (p.Val31668Leu)
n.446+13548C>G
n.317-177C>G
c.99022G>C (p.Val33008Leu)
c.72916G>C (p.Val24306Leu)
c.72775G>C (p.Val24259Leu)
c.98818G>C (p.Val32940Leu)
c.94216G>C (p.Val31406Leu)
c.94213G>C (p.Val31405Leu)
c.91255G>C (p.Val30419Leu)
c.72871G>C (p.Val24291Leu)
c.94366G>C (p.Val31456Leu)
c.94363G>C (p.Val31455Leu)
c.93796G>C (p.Val31266Leu)
c.91138G>C (p.Val30380Leu)
c.91057G>C (p.Val30353Leu)
c.72820G>C (p.Val24274Leu)
c.62674G>C (p.Val20892Leu)
 dbSNP
2g.178537184C>TCA349427149TTN,TTN-AS1c.92221G>A (p.Val30741Met)
c.73306G>A (p.Val24436Met)
c.73105G>A (p.Val24369Met)
c.72730G>A (p.Val24244Met)
c.99925G>A (p.Val33309Met)
c.95002G>A (p.Val31668Met)
n.446+13548C>T
n.317-177C>T
c.99022G>A (p.Val33008Met)
c.72916G>A (p.Val24306Met)
c.72775G>A (p.Val24259Met)
c.98818G>A (p.Val32940Met)
c.94216G>A (p.Val31406Met)
c.94213G>A (p.Val31405Met)
c.91255G>A (p.Val30419Met)
c.72871G>A (p.Val24291Met)
c.94366G>A (p.Val31456Met)
c.94363G>A (p.Val31455Met)
c.93796G>A (p.Val31266Met)
c.91138G>A (p.Val30380Met)
c.91057G>A (p.Val30353Met)
c.72820G>A (p.Val24274Met)
c.62674G>A (p.Val20892Met)
 dbSNP
2g.178537185T>ACA430238890TTN,TTN-AS1c.92220A>T (p.Ala30740=)
c.73305A>T (p.Ala24435=)
c.73104A>T (p.Ala24368=)
c.72729A>T (p.Ala24243=)
c.99924A>T (p.Ala33308=)
c.95001A>T (p.Ala31667=)
n.446+13549T>A
n.317-176T>A
c.99021A>T (p.Ala33007=)
c.72915A>T (p.Ala24305=)
c.72774A>T (p.Ala24258=)
c.98817A>T (p.Ala32939=)
c.94215A>T (p.Ala31405=)
c.94212A>T (p.Ala31404=)
c.91254A>T (p.Ala30418=)
c.72870A>T (p.Ala24290=)
c.94365A>T (p.Ala31455=)
c.94362A>T (p.Ala31454=)
c.93795A>T (p.Ala31265=)
c.91137A>T (p.Ala30379=)
c.91056A>T (p.Ala30352=)
c.72819A>T (p.Ala24273=)
c.62673A>T (p.Ala20891=)
2g.178537185T>CCA430238891TTN,TTN-AS1c.92220A>G (p.Ala30740=)
c.73305A>G (p.Ala24435=)
c.73104A>G (p.Ala24368=)
c.72729A>G (p.Ala24243=)
c.99924A>G (p.Ala33308=)
c.95001A>G (p.Ala31667=)
n.446+13549T>C
n.317-176T>C
c.99021A>G (p.Ala33007=)
c.72915A>G (p.Ala24305=)
c.72774A>G (p.Ala24258=)
c.98817A>G (p.Ala32939=)
c.94215A>G (p.Ala31405=)
c.94212A>G (p.Ala31404=)
c.91254A>G (p.Ala30418=)
c.72870A>G (p.Ala24290=)
c.94365A>G (p.Ala31455=)
c.94362A>G (p.Ala31454=)
c.93795A>G (p.Ala31265=)
c.91137A>G (p.Ala30379=)
c.91056A>G (p.Ala30352=)
c.72819A>G (p.Ala24273=)
c.62673A>G (p.Ala20891=)
 dbSNP
2g.178537185T>GCA430238892TTN,TTN-AS1c.92220A>C (p.Ala30740=)
c.73305A>C (p.Ala24435=)
c.73104A>C (p.Ala24368=)
c.72729A>C (p.Ala24243=)
c.99924A>C (p.Ala33308=)
c.95001A>C (p.Ala31667=)
n.446+13549T>G
n.317-176T>G
c.99021A>C (p.Ala33007=)
c.72915A>C (p.Ala24305=)
c.72774A>C (p.Ala24258=)
c.98817A>C (p.Ala32939=)
c.94215A>C (p.Ala31405=)
c.94212A>C (p.Ala31404=)
c.91254A>C (p.Ala30418=)
c.72870A>C (p.Ala24290=)
c.94365A>C (p.Ala31455=)
c.94362A>C (p.Ala31454=)
c.93795A>C (p.Ala31265=)
c.91137A>C (p.Ala30379=)
c.91056A>C (p.Ala30352=)
c.72819A>C (p.Ala24273=)
c.62673A>C (p.Ala20891=)
2g.178537185T=CA1310515290TTN,TTN-AS1c.92220A= (p.Ala30740=)
c.73305A= (p.Ala24435=)
c.73104A= (p.Ala24368=)
c.72729A= (p.Ala24243=)
c.99924A= (p.Ala33308=)
c.95001A= (p.Ala31667=)
n.446+13549T=
n.317-176T=
c.99021A= (p.Ala33007=)
c.72915A= (p.Ala24305=)
c.72774A= (p.Ala24258=)
c.98817A= (p.Ala32939=)
c.94215A= (p.Ala31405=)
c.94212A= (p.Ala31404=)
c.91254A= (p.Ala30418=)
c.72870A= (p.Ala24290=)
c.94365A= (p.Ala31455=)
c.94362A= (p.Ala31454=)
c.93795A= (p.Ala31265=)
c.91137A= (p.Ala30379=)
c.91056A= (p.Ala30352=)
c.72819A= (p.Ala24273=)
c.62673A= (p.Ala20891=)
2g.178537186G>ACA349427150TTN,TTN-AS1c.92219C>T (p.Ala30740Val)
c.73304C>T (p.Ala24435Val)
c.73103C>T (p.Ala24368Val)
c.72728C>T (p.Ala24243Val)
c.99923C>T (p.Ala33308Val)
c.95000C>T (p.Ala31667Val)
n.446+13550G>A
n.317-175G>A
c.99020C>T (p.Ala33007Val)
c.72914C>T (p.Ala24305Val)
c.72773C>T (p.Ala24258Val)
c.98816C>T (p.Ala32939Val)
c.94214C>T (p.Ala31405Val)
c.94211C>T (p.Ala31404Val)
c.91253C>T (p.Ala30418Val)
c.72869C>T (p.Ala24290Val)
c.94364C>T (p.Ala31455Val)
c.94361C>T (p.Ala31454Val)
c.93794C>T (p.Ala31265Val)
c.91136C>T (p.Ala30379Val)
c.91055C>T (p.Ala30352Val)
c.72818C>T (p.Ala24273Val)
c.62672C>T (p.Ala20891Val)
 dbSNP
2g.178537186G>CCA349427151TTN,TTN-AS1c.92219C>G (p.Ala30740Gly)
c.73304C>G (p.Ala24435Gly)
c.73103C>G (p.Ala24368Gly)
c.72728C>G (p.Ala24243Gly)
c.99923C>G (p.Ala33308Gly)
c.95000C>G (p.Ala31667Gly)
n.446+13550G>C
n.317-175G>C
c.99020C>G (p.Ala33007Gly)
c.72914C>G (p.Ala24305Gly)
c.72773C>G (p.Ala24258Gly)
c.98816C>G (p.Ala32939Gly)
c.94214C>G (p.Ala31405Gly)
c.94211C>G (p.Ala31404Gly)
c.91253C>G (p.Ala30418Gly)
c.72869C>G (p.Ala24290Gly)
c.94364C>G (p.Ala31455Gly)
c.94361C>G (p.Ala31454Gly)
c.93794C>G (p.Ala31265Gly)
c.91136C>G (p.Ala30379Gly)
c.91055C>G (p.Ala30352Gly)
c.72818C>G (p.Ala24273Gly)
c.62672C>G (p.Ala20891Gly)
2g.178537186G=CA1310515292TTN,TTN-AS1c.92219C= (p.Ala30740=)
c.73304C= (p.Ala24435=)
c.73103C= (p.Ala24368=)
c.72728C= (p.Ala24243=)
c.99923C= (p.Ala33308=)
c.95000C= (p.Ala31667=)
n.446+13550G=
n.317-175G=
c.99020C= (p.Ala33007=)
c.72914C= (p.Ala24305=)
c.72773C= (p.Ala24258=)
c.98816C= (p.Ala32939=)
c.94214C= (p.Ala31405=)
c.94211C= (p.Ala31404=)
c.91253C= (p.Ala30418=)
c.72869C= (p.Ala24290=)
c.94364C= (p.Ala31455=)
c.94361C= (p.Ala31454=)
c.93794C= (p.Ala31265=)
c.91136C= (p.Ala30379=)
c.91055C= (p.Ala30352=)
c.72818C= (p.Ala24273=)
c.62672C= (p.Ala20891=)
2g.178537186G>TCA349427152TTN,TTN-AS1c.92219C>A (p.Ala30740Glu)
c.73304C>A (p.Ala24435Glu)
c.73103C>A (p.Ala24368Glu)
c.72728C>A (p.Ala24243Glu)
c.99923C>A (p.Ala33308Glu)
c.95000C>A (p.Ala31667Glu)
n.446+13550G>T
n.317-175G>T
c.99020C>A (p.Ala33007Glu)
c.72914C>A (p.Ala24305Glu)
c.72773C>A (p.Ala24258Glu)
c.98816C>A (p.Ala32939Glu)
c.94214C>A (p.Ala31405Glu)
c.94211C>A (p.Ala31404Glu)
c.91253C>A (p.Ala30418Glu)
c.72869C>A (p.Ala24290Glu)
c.94364C>A (p.Ala31455Glu)
c.94361C>A (p.Ala31454Glu)
c.93794C>A (p.Ala31265Glu)
c.91136C>A (p.Ala30379Glu)
c.91055C>A (p.Ala30352Glu)
c.72818C>A (p.Ala24273Glu)
c.62672C>A (p.Ala20891Glu)
2g.178537187C>ACA349427154TTN,TTN-AS1c.92218G>T (p.Ala30740Ser)
c.73303G>T (p.Ala24435Ser)
c.73102G>T (p.Ala24368Ser)
c.72727G>T (p.Ala24243Ser)
c.99922G>T (p.Ala33308Ser)
c.94999G>T (p.Ala31667Ser)
n.446+13551C>A
n.317-174C>A
c.99019G>T (p.Ala33007Ser)
c.72913G>T (p.Ala24305Ser)
c.72772G>T (p.Ala24258Ser)
c.98815G>T (p.Ala32939Ser)
c.94213G>T (p.Ala31405Ser)
c.94210G>T (p.Ala31404Ser)
c.91252G>T (p.Ala30418Ser)
c.72868G>T (p.Ala24290Ser)
c.94363G>T (p.Ala31455Ser)
c.94360G>T (p.Ala31454Ser)
c.93793G>T (p.Ala31265Ser)
c.91135G>T (p.Ala30379Ser)
c.91054G>T (p.Ala30352Ser)
c.72817G>T (p.Ala24273Ser)
c.62671G>T (p.Ala20891Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178537187C=CA1310515293TTN,TTN-AS1c.92218G= (p.Ala30740=)
c.73303G= (p.Ala24435=)
c.73102G= (p.Ala24368=)
c.72727G= (p.Ala24243=)
c.99922G= (p.Ala33308=)
c.94999G= (p.Ala31667=)
n.446+13551C=
n.317-174C=
c.99019G= (p.Ala33007=)
c.72913G= (p.Ala24305=)
c.72772G= (p.Ala24258=)
c.98815G= (p.Ala32939=)
c.94213G= (p.Ala31405=)
c.94210G= (p.Ala31404=)
c.91252G= (p.Ala30418=)
c.72868G= (p.Ala24290=)
c.94363G= (p.Ala31455=)
c.94360G= (p.Ala31454=)
c.93793G= (p.Ala31265=)
c.91135G= (p.Ala30379=)
c.91054G= (p.Ala30352=)
c.72817G= (p.Ala24273=)
c.62671G= (p.Ala20891=)
2g.178537187C>GCA349427153TTN,TTN-AS1c.92218G>C (p.Ala30740Pro)
c.73303G>C (p.Ala24435Pro)
c.73102G>C (p.Ala24368Pro)
c.72727G>C (p.Ala24243Pro)
c.99922G>C (p.Ala33308Pro)
c.94999G>C (p.Ala31667Pro)
n.446+13551C>G
n.317-174C>G
c.99019G>C (p.Ala33007Pro)
c.72913G>C (p.Ala24305Pro)
c.72772G>C (p.Ala24258Pro)
c.98815G>C (p.Ala32939Pro)
c.94213G>C (p.Ala31405Pro)
c.94210G>C (p.Ala31404Pro)
c.91252G>C (p.Ala30418Pro)
c.72868G>C (p.Ala24290Pro)
c.94363G>C (p.Ala31455Pro)
c.94360G>C (p.Ala31454Pro)
c.93793G>C (p.Ala31265Pro)
c.91135G>C (p.Ala30379Pro)
c.91054G>C (p.Ala30352Pro)
c.72817G>C (p.Ala24273Pro)
c.62671G>C (p.Ala20891Pro)
2g.178537187C>TCA1986108TTN,TTN-AS1c.92218G>A (p.Ala30740Thr)
c.73303G>A (p.Ala24435Thr)
c.73102G>A (p.Ala24368Thr)
c.72727G>A (p.Ala24243Thr)
c.99922G>A (p.Ala33308Thr)
c.94999G>A (p.Ala31667Thr)
n.446+13551C>T
n.317-174C>T
c.99019G>A (p.Ala33007Thr)
c.72913G>A (p.Ala24305Thr)
c.72772G>A (p.Ala24258Thr)
c.98815G>A (p.Ala32939Thr)
c.94213G>A (p.Ala31405Thr)
c.94210G>A (p.Ala31404Thr)
c.91252G>A (p.Ala30418Thr)
c.72868G>A (p.Ala24290Thr)
c.94363G>A (p.Ala31455Thr)
c.94360G>A (p.Ala31454Thr)
c.93793G>A (p.Ala31265Thr)
c.91135G>A (p.Ala30379Thr)
c.91054G>A (p.Ala30352Thr)
c.72817G>A (p.Ala24273Thr)
c.62671G>A (p.Ala20891Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537188G>ACA1986109TTN,TTN-AS1c.92217C>T (p.Ser30739=)
c.73302C>T (p.Ser24434=)
c.73101C>T (p.Ser24367=)
c.72726C>T (p.Ser24242=)
c.99921C>T (p.Ser33307=)
c.94998C>T (p.Ser31666=)
n.446+13552G>A
n.317-173G>A
c.99018C>T (p.Ser33006=)
c.72912C>T (p.Ser24304=)
c.72771C>T (p.Ser24257=)
c.98814C>T (p.Ser32938=)
c.94212C>T (p.Ser31404=)
c.94209C>T (p.Ser31403=)
c.91251C>T (p.Ser30417=)
c.72867C>T (p.Ser24289=)
c.94362C>T (p.Ser31454=)
c.94359C>T (p.Ser31453=)
c.93792C>T (p.Ser31264=)
c.91134C>T (p.Ser30378=)
c.91053C>T (p.Ser30351=)
c.72816C>T (p.Ser24272=)
c.62670C>T (p.Ser20890=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537188G>CCA430238896TTN,TTN-AS1c.92217C>G (p.Ser30739=)
c.73302C>G (p.Ser24434=)
c.73101C>G (p.Ser24367=)
c.72726C>G (p.Ser24242=)
c.99921C>G (p.Ser33307=)
c.94998C>G (p.Ser31666=)
n.446+13552G>C
n.317-173G>C
c.99018C>G (p.Ser33006=)
c.72912C>G (p.Ser24304=)
c.72771C>G (p.Ser24257=)
c.98814C>G (p.Ser32938=)
c.94212C>G (p.Ser31404=)
c.94209C>G (p.Ser31403=)
c.91251C>G (p.Ser30417=)
c.72867C>G (p.Ser24289=)
c.94362C>G (p.Ser31454=)
c.94359C>G (p.Ser31453=)
c.93792C>G (p.Ser31264=)
c.91134C>G (p.Ser30378=)
c.91053C>G (p.Ser30351=)
c.72816C>G (p.Ser24272=)
c.62670C>G (p.Ser20890=)
2g.178537188G=CA1310515295TTN,TTN-AS1c.92217C= (p.Ser30739=)
c.73302C= (p.Ser24434=)
c.73101C= (p.Ser24367=)
c.72726C= (p.Ser24242=)
c.99921C= (p.Ser33307=)
c.94998C= (p.Ser31666=)
n.446+13552G=
n.317-173G=
c.99018C= (p.Ser33006=)
c.72912C= (p.Ser24304=)
c.72771C= (p.Ser24257=)
c.98814C= (p.Ser32938=)
c.94212C= (p.Ser31404=)
c.94209C= (p.Ser31403=)
c.91251C= (p.Ser30417=)
c.72867C= (p.Ser24289=)
c.94362C= (p.Ser31454=)
c.94359C= (p.Ser31453=)
c.93792C= (p.Ser31264=)
c.91134C= (p.Ser30378=)
c.91053C= (p.Ser30351=)
c.72816C= (p.Ser24272=)
c.62670C= (p.Ser20890=)
2g.178537188G>TCA430238897TTN,TTN-AS1c.92217C>A (p.Ser30739=)
c.73302C>A (p.Ser24434=)
c.73101C>A (p.Ser24367=)
c.72726C>A (p.Ser24242=)
c.99921C>A (p.Ser33307=)
c.94998C>A (p.Ser31666=)
n.446+13552G>T
n.317-173G>T
c.99018C>A (p.Ser33006=)
c.72912C>A (p.Ser24304=)
c.72771C>A (p.Ser24257=)
c.98814C>A (p.Ser32938=)
c.94212C>A (p.Ser31404=)
c.94209C>A (p.Ser31403=)
c.91251C>A (p.Ser30417=)
c.72867C>A (p.Ser24289=)
c.94362C>A (p.Ser31454=)
c.94359C>A (p.Ser31453=)
c.93792C>A (p.Ser31264=)
c.91134C>A (p.Ser30378=)
c.91053C>A (p.Ser30351=)
c.72816C>A (p.Ser24272=)
c.62670C>A (p.Ser20890=)
2g.178537189G>ACA349427155TTN,TTN-AS1c.92216C>T (p.Ser30739Phe)
c.73301C>T (p.Ser24434Phe)
c.73100C>T (p.Ser24367Phe)
c.72725C>T (p.Ser24242Phe)
c.99920C>T (p.Ser33307Phe)
c.94997C>T (p.Ser31666Phe)
n.446+13553G>A
n.317-172G>A
c.99017C>T (p.Ser33006Phe)
c.72911C>T (p.Ser24304Phe)
c.72770C>T (p.Ser24257Phe)
c.98813C>T (p.Ser32938Phe)
c.94211C>T (p.Ser31404Phe)
c.94208C>T (p.Ser31403Phe)
c.91250C>T (p.Ser30417Phe)
c.72866C>T (p.Ser24289Phe)
c.94361C>T (p.Ser31454Phe)
c.94358C>T (p.Ser31453Phe)
c.93791C>T (p.Ser31264Phe)
c.91133C>T (p.Ser30378Phe)
c.91052C>T (p.Ser30351Phe)
c.72815C>T (p.Ser24272Phe)
c.62669C>T (p.Ser20890Phe)
2g.178537189G>CCA349427156TTN,TTN-AS1c.92216C>G (p.Ser30739Cys)
c.73301C>G (p.Ser24434Cys)
c.73100C>G (p.Ser24367Cys)
c.72725C>G (p.Ser24242Cys)
c.99920C>G (p.Ser33307Cys)
c.94997C>G (p.Ser31666Cys)
n.446+13553G>C
n.317-172G>C
c.99017C>G (p.Ser33006Cys)
c.72911C>G (p.Ser24304Cys)
c.72770C>G (p.Ser24257Cys)
c.98813C>G (p.Ser32938Cys)
c.94211C>G (p.Ser31404Cys)
c.94208C>G (p.Ser31403Cys)
c.91250C>G (p.Ser30417Cys)
c.72866C>G (p.Ser24289Cys)
c.94361C>G (p.Ser31454Cys)
c.94358C>G (p.Ser31453Cys)
c.93791C>G (p.Ser31264Cys)
c.91133C>G (p.Ser30378Cys)
c.91052C>G (p.Ser30351Cys)
c.72815C>G (p.Ser24272Cys)
c.62669C>G (p.Ser20890Cys)
2g.178537189G>TCA349427157TTN,TTN-AS1c.92216C>A (p.Ser30739Tyr)
c.73301C>A (p.Ser24434Tyr)
c.73100C>A (p.Ser24367Tyr)
c.72725C>A (p.Ser24242Tyr)
c.99920C>A (p.Ser33307Tyr)
c.94997C>A (p.Ser31666Tyr)
n.446+13553G>T
n.317-172G>T
c.99017C>A (p.Ser33006Tyr)
c.72911C>A (p.Ser24304Tyr)
c.72770C>A (p.Ser24257Tyr)
c.98813C>A (p.Ser32938Tyr)
c.94211C>A (p.Ser31404Tyr)
c.94208C>A (p.Ser31403Tyr)
c.91250C>A (p.Ser30417Tyr)
c.72866C>A (p.Ser24289Tyr)
c.94361C>A (p.Ser31454Tyr)
c.94358C>A (p.Ser31453Tyr)
c.93791C>A (p.Ser31264Tyr)
c.91133C>A (p.Ser30378Tyr)
c.91052C>A (p.Ser30351Tyr)
c.72815C>A (p.Ser24272Tyr)
c.62669C>A (p.Ser20890Tyr)
2g.178537190_178537191dupCA10606032TTN,TTN-AS1c.92215_92216dup (p.Ala30740ProfsTer3)
c.73300_73301dup (p.Ala24435ProfsTer3)
c.73099_73100dup (p.Ala24368ProfsTer3)
c.72724_72725dup (p.Ala24243ProfsTer3)
c.99919_99920dup (p.Ala33308ProfsTer3)
c.94996_94997dup (p.Ala31667ProfsTer3)
n.446+13554_446+13555dup
n.317-171_317-170dup
c.99016_99017dup (p.Ala33007ProfsTer3)
c.72910_72911dup (p.Ala24305ProfsTer3)
c.72769_72770dup (p.Ala24258ProfsTer3)
c.98812_98813dup (p.Ala32939ProfsTer3)
c.94210_94211dup (p.Ala31405ProfsTer3)
c.94207_94208dup (p.Ala31404ProfsTer3)
c.91249_91250dup (p.Ala30418ProfsTer3)
c.72865_72866dup (p.Ala24290ProfsTer3)
c.94360_94361dup (p.Ala31455ProfsTer3)
c.94357_94358dup (p.Ala31454ProfsTer3)
c.93790_93791dup (p.Ala31265ProfsTer3)
c.91132_91133dup (p.Ala30379ProfsTer3)
c.91051_91052dup (p.Ala30352ProfsTer3)
c.72814_72815dup (p.Ala24273ProfsTer3)
c.62668_62669dup (p.Ala20891ProfsTer3)
 ClinVar dbSNP
2g.178537190A>CCA349427158TTN,TTN-AS1c.92215T>G (p.Ser30739Ala)
c.73300T>G (p.Ser24434Ala)
c.73099T>G (p.Ser24367Ala)
c.72724T>G (p.Ser24242Ala)
c.99919T>G (p.Ser33307Ala)
c.94996T>G (p.Ser31666Ala)
n.446+13554A>C
n.317-171A>C
c.99016T>G (p.Ser33006Ala)
c.72910T>G (p.Ser24304Ala)
c.72769T>G (p.Ser24257Ala)
c.98812T>G (p.Ser32938Ala)
c.94210T>G (p.Ser31404Ala)
c.94207T>G (p.Ser31403Ala)
c.91249T>G (p.Ser30417Ala)
c.72865T>G (p.Ser24289Ala)
c.94360T>G (p.Ser31454Ala)
c.94357T>G (p.Ser31453Ala)
c.93790T>G (p.Ser31264Ala)
c.91132T>G (p.Ser30378Ala)
c.91051T>G (p.Ser30351Ala)
c.72814T>G (p.Ser24272Ala)
c.62668T>G (p.Ser20890Ala)
2g.178537190A>GCA349427159TTN,TTN-AS1c.92215T>C (p.Ser30739Pro)
c.73300T>C (p.Ser24434Pro)
c.73099T>C (p.Ser24367Pro)
c.72724T>C (p.Ser24242Pro)
c.99919T>C (p.Ser33307Pro)
c.94996T>C (p.Ser31666Pro)
n.446+13554A>G
n.317-171A>G
c.99016T>C (p.Ser33006Pro)
c.72910T>C (p.Ser24304Pro)
c.72769T>C (p.Ser24257Pro)
c.98812T>C (p.Ser32938Pro)
c.94210T>C (p.Ser31404Pro)
c.94207T>C (p.Ser31403Pro)
c.91249T>C (p.Ser30417Pro)
c.72865T>C (p.Ser24289Pro)
c.94360T>C (p.Ser31454Pro)
c.94357T>C (p.Ser31453Pro)
c.93790T>C (p.Ser31264Pro)
c.91132T>C (p.Ser30378Pro)
c.91051T>C (p.Ser30351Pro)
c.72814T>C (p.Ser24272Pro)
c.62668T>C (p.Ser20890Pro)
2g.178537190A>TCA349427160TTN,TTN-AS1c.92215T>A (p.Ser30739Thr)
c.73300T>A (p.Ser24434Thr)
c.73099T>A (p.Ser24367Thr)
c.72724T>A (p.Ser24242Thr)
c.99919T>A (p.Ser33307Thr)
c.94996T>A (p.Ser31666Thr)
n.446+13554A>T
n.317-171A>T
c.99016T>A (p.Ser33006Thr)
c.72910T>A (p.Ser24304Thr)
c.72769T>A (p.Ser24257Thr)
c.98812T>A (p.Ser32938Thr)
c.94210T>A (p.Ser31404Thr)
c.94207T>A (p.Ser31403Thr)
c.91249T>A (p.Ser30417Thr)
c.72865T>A (p.Ser24289Thr)
c.94360T>A (p.Ser31454Thr)
c.94357T>A (p.Ser31453Thr)
c.93790T>A (p.Ser31264Thr)
c.91132T>A (p.Ser30378Thr)
c.91051T>A (p.Ser30351Thr)
c.72814T>A (p.Ser24272Thr)
c.62668T>A (p.Ser20890Thr)
2g.178537191G>ACA430238901TTN,TTN-AS1c.92214C>T (p.Asn30738=)
c.73299C>T (p.Asn24433=)
c.73098C>T (p.Asn24366=)
c.72723C>T (p.Asn24241=)
c.99918C>T (p.Asn33306=)
c.94995C>T (p.Asn31665=)
n.446+13555G>A
n.317-170G>A
c.99015C>T (p.Asn33005=)
c.72909C>T (p.Asn24303=)
c.72768C>T (p.Asn24256=)
c.98811C>T (p.Asn32937=)
c.94209C>T (p.Asn31403=)
c.94206C>T (p.Asn31402=)
c.91248C>T (p.Asn30416=)
c.72864C>T (p.Asn24288=)
c.94359C>T (p.Asn31453=)
c.94356C>T (p.Asn31452=)
c.93789C>T (p.Asn31263=)
c.91131C>T (p.Asn30377=)
c.91050C>T (p.Asn30350=)
c.72813C>T (p.Asn24271=)
c.62667C>T (p.Asn20889=)
2g.178537191G>CCA349427161TTN,TTN-AS1c.92214C>G (p.Asn30738Lys)
c.73299C>G (p.Asn24433Lys)
c.73098C>G (p.Asn24366Lys)
c.72723C>G (p.Asn24241Lys)
c.99918C>G (p.Asn33306Lys)
c.94995C>G (p.Asn31665Lys)
n.446+13555G>C
n.317-170G>C
c.99015C>G (p.Asn33005Lys)
c.72909C>G (p.Asn24303Lys)
c.72768C>G (p.Asn24256Lys)
c.98811C>G (p.Asn32937Lys)
c.94209C>G (p.Asn31403Lys)
c.94206C>G (p.Asn31402Lys)
c.91248C>G (p.Asn30416Lys)
c.72864C>G (p.Asn24288Lys)
c.94359C>G (p.Asn31453Lys)
c.94356C>G (p.Asn31452Lys)
c.93789C>G (p.Asn31263Lys)
c.91131C>G (p.Asn30377Lys)
c.91050C>G (p.Asn30350Lys)
c.72813C>G (p.Asn24271Lys)
c.62667C>G (p.Asn20889Lys)
2g.178537191G>TCA349427162TTN,TTN-AS1c.92214C>A (p.Asn30738Lys)
c.73299C>A (p.Asn24433Lys)
c.73098C>A (p.Asn24366Lys)
c.72723C>A (p.Asn24241Lys)
c.99918C>A (p.Asn33306Lys)
c.94995C>A (p.Asn31665Lys)
n.446+13555G>T
n.317-170G>T
c.99015C>A (p.Asn33005Lys)
c.72909C>A (p.Asn24303Lys)
c.72768C>A (p.Asn24256Lys)
c.98811C>A (p.Asn32937Lys)
c.94209C>A (p.Asn31403Lys)
c.94206C>A (p.Asn31402Lys)
c.91248C>A (p.Asn30416Lys)
c.72864C>A (p.Asn24288Lys)
c.94359C>A (p.Asn31453Lys)
c.94356C>A (p.Asn31452Lys)
c.93789C>A (p.Asn31263Lys)
c.91131C>A (p.Asn30377Lys)
c.91050C>A (p.Asn30350Lys)
c.72813C>A (p.Asn24271Lys)
c.62667C>A (p.Asn20889Lys)
2g.178537192T>ACA349427163TTN,TTN-AS1c.92213A>T (p.Asn30738Ile)
c.73298A>T (p.Asn24433Ile)
c.73097A>T (p.Asn24366Ile)
c.72722A>T (p.Asn24241Ile)
c.99917A>T (p.Asn33306Ile)
c.94994A>T (p.Asn31665Ile)
n.446+13556T>A
n.317-169T>A
c.99014A>T (p.Asn33005Ile)
c.72908A>T (p.Asn24303Ile)
c.72767A>T (p.Asn24256Ile)
c.98810A>T (p.Asn32937Ile)
c.94208A>T (p.Asn31403Ile)
c.94205A>T (p.Asn31402Ile)
c.91247A>T (p.Asn30416Ile)
c.72863A>T (p.Asn24288Ile)
c.94358A>T (p.Asn31453Ile)
c.94355A>T (p.Asn31452Ile)
c.93788A>T (p.Asn31263Ile)
c.91130A>T (p.Asn30377Ile)
c.91049A>T (p.Asn30350Ile)
c.72812A>T (p.Asn24271Ile)
c.62666A>T (p.Asn20889Ile)
2g.178537192T>CCA349427164TTN,TTN-AS1c.92213A>G (p.Asn30738Ser)
c.73298A>G (p.Asn24433Ser)
c.73097A>G (p.Asn24366Ser)
c.72722A>G (p.Asn24241Ser)
c.99917A>G (p.Asn33306Ser)
c.94994A>G (p.Asn31665Ser)
n.446+13556T>C
n.317-169T>C
c.99014A>G (p.Asn33005Ser)
c.72908A>G (p.Asn24303Ser)
c.72767A>G (p.Asn24256Ser)
c.98810A>G (p.Asn32937Ser)
c.94208A>G (p.Asn31403Ser)
c.94205A>G (p.Asn31402Ser)
c.91247A>G (p.Asn30416Ser)
c.72863A>G (p.Asn24288Ser)
c.94358A>G (p.Asn31453Ser)
c.94355A>G (p.Asn31452Ser)
c.93788A>G (p.Asn31263Ser)
c.91130A>G (p.Asn30377Ser)
c.91049A>G (p.Asn30350Ser)
c.72812A>G (p.Asn24271Ser)
c.62666A>G (p.Asn20889Ser)
2g.178537192T>GCA349427165TTN,TTN-AS1c.92213A>C (p.Asn30738Thr)
c.73298A>C (p.Asn24433Thr)
c.73097A>C (p.Asn24366Thr)
c.72722A>C (p.Asn24241Thr)
c.99917A>C (p.Asn33306Thr)
c.94994A>C (p.Asn31665Thr)
n.446+13556T>G
n.317-169T>G
c.99014A>C (p.Asn33005Thr)
c.72908A>C (p.Asn24303Thr)
c.72767A>C (p.Asn24256Thr)
c.98810A>C (p.Asn32937Thr)
c.94208A>C (p.Asn31403Thr)
c.94205A>C (p.Asn31402Thr)
c.91247A>C (p.Asn30416Thr)
c.72863A>C (p.Asn24288Thr)
c.94358A>C (p.Asn31453Thr)
c.94355A>C (p.Asn31452Thr)
c.93788A>C (p.Asn31263Thr)
c.91130A>C (p.Asn30377Thr)
c.91049A>C (p.Asn30350Thr)
c.72812A>C (p.Asn24271Thr)
c.62666A>C (p.Asn20889Thr)
2g.178537193T>ACA349427166TTN,TTN-AS1c.92212A>T (p.Asn30738Tyr)
c.73297A>T (p.Asn24433Tyr)
c.73096A>T (p.Asn24366Tyr)
c.72721A>T (p.Asn24241Tyr)
c.99916A>T (p.Asn33306Tyr)
c.94993A>T (p.Asn31665Tyr)
n.446+13557T>A
n.317-168T>A
c.99013A>T (p.Asn33005Tyr)
c.72907A>T (p.Asn24303Tyr)
c.72766A>T (p.Asn24256Tyr)
c.98809A>T (p.Asn32937Tyr)
c.94207A>T (p.Asn31403Tyr)
c.94204A>T (p.Asn31402Tyr)
c.91246A>T (p.Asn30416Tyr)
c.72862A>T (p.Asn24288Tyr)
c.94357A>T (p.Asn31453Tyr)
c.94354A>T (p.Asn31452Tyr)
c.93787A>T (p.Asn31263Tyr)
c.91129A>T (p.Asn30377Tyr)
c.91048A>T (p.Asn30350Tyr)
c.72811A>T (p.Asn24271Tyr)
c.62665A>T (p.Asn20889Tyr)
2g.178537193T>CCA349427168TTN,TTN-AS1c.92212A>G (p.Asn30738Asp)
c.73297A>G (p.Asn24433Asp)
c.73096A>G (p.Asn24366Asp)
c.72721A>G (p.Asn24241Asp)
c.99916A>G (p.Asn33306Asp)
c.94993A>G (p.Asn31665Asp)
n.446+13557T>C
n.317-168T>C
c.99013A>G (p.Asn33005Asp)
c.72907A>G (p.Asn24303Asp)
c.72766A>G (p.Asn24256Asp)
c.98809A>G (p.Asn32937Asp)
c.94207A>G (p.Asn31403Asp)
c.94204A>G (p.Asn31402Asp)
c.91246A>G (p.Asn30416Asp)
c.72862A>G (p.Asn24288Asp)
c.94357A>G (p.Asn31453Asp)
c.94354A>G (p.Asn31452Asp)
c.93787A>G (p.Asn31263Asp)
c.91129A>G (p.Asn30377Asp)
c.91048A>G (p.Asn30350Asp)
c.72811A>G (p.Asn24271Asp)
c.62665A>G (p.Asn20889Asp)
2g.178537193T>GCA349427167TTN,TTN-AS1c.92212A>C (p.Asn30738His)
c.73297A>C (p.Asn24433His)
c.73096A>C (p.Asn24366His)
c.72721A>C (p.Asn24241His)
c.99916A>C (p.Asn33306His)
c.94993A>C (p.Asn31665His)
n.446+13557T>G
n.317-168T>G
c.99013A>C (p.Asn33005His)
c.72907A>C (p.Asn24303His)
c.72766A>C (p.Asn24256His)
c.98809A>C (p.Asn32937His)
c.94207A>C (p.Asn31403His)
c.94204A>C (p.Asn31402His)
c.91246A>C (p.Asn30416His)
c.72862A>C (p.Asn24288His)
c.94357A>C (p.Asn31453His)
c.94354A>C (p.Asn31452His)
c.93787A>C (p.Asn31263His)
c.91129A>C (p.Asn30377His)
c.91048A>C (p.Asn30350His)
c.72811A>C (p.Asn24271His)
c.62665A>C (p.Asn20889His)
2g.178537193_178537203delCA2740096324TTN,TTN-AS1c.92202_92212del (p.Leu30736ArgfsTer11)
c.73287_73297del (p.Leu24431ArgfsTer11)
c.73086_73096del (p.Leu24364ArgfsTer11)
c.72711_72721del (p.Leu24239ArgfsTer11)
c.99906_99916del (p.Leu33304ArgfsTer11)
c.94983_94993del (p.Leu31663ArgfsTer11)
n.446+13557_446+13567del
n.317-168_317-158del
c.99003_99013del (p.Leu33003ArgfsTer11)
c.72897_72907del (p.Leu24301ArgfsTer11)
c.72756_72766del (p.Leu24254ArgfsTer11)
c.98799_98809del (p.Leu32935ArgfsTer11)
c.94197_94207del (p.Leu31401ArgfsTer11)
c.94194_94204del (p.Leu31400ArgfsTer11)
c.91236_91246del (p.Leu30414ArgfsTer11)
c.72852_72862del (p.Leu24286ArgfsTer11)
c.94347_94357del (p.Leu31451ArgfsTer11)
c.94344_94354del (p.Leu31450ArgfsTer11)
c.93777_93787del (p.Leu31261ArgfsTer11)
c.91119_91129del (p.Leu30375ArgfsTer11)
c.91038_91048del (p.Leu30348ArgfsTer11)
c.72801_72811del (p.Leu24269ArgfsTer11)
c.62655_62665del (p.Leu20887ArgfsTer11)
 ClinVar
2g.178537194C>ACA349427169TTN,TTN-AS1c.92211G>T (p.Lys30737Asn)
c.73296G>T (p.Lys24432Asn)
c.73095G>T (p.Lys24365Asn)
c.72720G>T (p.Lys24240Asn)
c.99915G>T (p.Lys33305Asn)
c.94992G>T (p.Lys31664Asn)
n.446+13558C>A
n.317-167C>A
c.99012G>T (p.Lys33004Asn)
c.72906G>T (p.Lys24302Asn)
c.72765G>T (p.Lys24255Asn)
c.98808G>T (p.Lys32936Asn)
c.94206G>T (p.Lys31402Asn)
c.94203G>T (p.Lys31401Asn)
c.91245G>T (p.Lys30415Asn)
c.72861G>T (p.Lys24287Asn)
c.94356G>T (p.Lys31452Asn)
c.94353G>T (p.Lys31451Asn)
c.93786G>T (p.Lys31262Asn)
c.91128G>T (p.Lys30376Asn)
c.91047G>T (p.Lys30349Asn)
c.72810G>T (p.Lys24270Asn)
c.62664G>T (p.Lys20888Asn)
 gnomAD v4
2g.178537194C=CA1310515299TTN,TTN-AS1c.92211G= (p.Lys30737=)
c.73296G= (p.Lys24432=)
c.73095G= (p.Lys24365=)
c.72720G= (p.Lys24240=)
c.99915G= (p.Lys33305=)
c.94992G= (p.Lys31664=)
n.446+13558C=
n.317-167C=
c.99012G= (p.Lys33004=)
c.72906G= (p.Lys24302=)
c.72765G= (p.Lys24255=)
c.98808G= (p.Lys32936=)
c.94206G= (p.Lys31402=)
c.94203G= (p.Lys31401=)
c.91245G= (p.Lys30415=)
c.72861G= (p.Lys24287=)
c.94356G= (p.Lys31452=)
c.94353G= (p.Lys31451=)
c.93786G= (p.Lys31262=)
c.91128G= (p.Lys30376=)
c.91047G= (p.Lys30349=)
c.72810G= (p.Lys24270=)
c.62664G= (p.Lys20888=)
2g.178537194C>GCA349427170TTN,TTN-AS1c.92211G>C (p.Lys30737Asn)
c.73296G>C (p.Lys24432Asn)
c.73095G>C (p.Lys24365Asn)
c.72720G>C (p.Lys24240Asn)
c.99915G>C (p.Lys33305Asn)
c.94992G>C (p.Lys31664Asn)
n.446+13558C>G
n.317-167C>G
c.99012G>C (p.Lys33004Asn)
c.72906G>C (p.Lys24302Asn)
c.72765G>C (p.Lys24255Asn)
c.98808G>C (p.Lys32936Asn)
c.94206G>C (p.Lys31402Asn)
c.94203G>C (p.Lys31401Asn)
c.91245G>C (p.Lys30415Asn)
c.72861G>C (p.Lys24287Asn)
c.94356G>C (p.Lys31452Asn)
c.94353G>C (p.Lys31451Asn)
c.93786G>C (p.Lys31262Asn)
c.91128G>C (p.Lys30376Asn)
c.91047G>C (p.Lys30349Asn)
c.72810G>C (p.Lys24270Asn)
c.62664G>C (p.Lys20888Asn)
2g.178537194C>TCA430238909TTN,TTN-AS1c.92211G>A (p.Lys30737=)
c.73296G>A (p.Lys24432=)
c.73095G>A (p.Lys24365=)
c.72720G>A (p.Lys24240=)
c.99915G>A (p.Lys33305=)
c.94992G>A (p.Lys31664=)
n.446+13558C>T
n.317-167C>T
c.99012G>A (p.Lys33004=)
c.72906G>A (p.Lys24302=)
c.72765G>A (p.Lys24255=)
c.98808G>A (p.Lys32936=)
c.94206G>A (p.Lys31402=)
c.94203G>A (p.Lys31401=)
c.91245G>A (p.Lys30415=)
c.72861G>A (p.Lys24287=)
c.94356G>A (p.Lys31452=)
c.94353G>A (p.Lys31451=)
c.93786G>A (p.Lys31262=)
c.91128G>A (p.Lys30376=)
c.91047G>A (p.Lys30349=)
c.72810G>A (p.Lys24270=)
c.62664G>A (p.Lys20888=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537195T>ACA349427171TTN,TTN-AS1c.92210A>T (p.Lys30737Met)
c.73295A>T (p.Lys24432Met)
c.73094A>T (p.Lys24365Met)
c.72719A>T (p.Lys24240Met)
c.99914A>T (p.Lys33305Met)
c.94991A>T (p.Lys31664Met)
n.446+13559T>A
n.317-166T>A
c.99011A>T (p.Lys33004Met)
c.72905A>T (p.Lys24302Met)
c.72764A>T (p.Lys24255Met)
c.98807A>T (p.Lys32936Met)
c.94205A>T (p.Lys31402Met)
c.94202A>T (p.Lys31401Met)
c.91244A>T (p.Lys30415Met)
c.72860A>T (p.Lys24287Met)
c.94355A>T (p.Lys31452Met)
c.94352A>T (p.Lys31451Met)
c.93785A>T (p.Lys31262Met)
c.91127A>T (p.Lys30376Met)
c.91046A>T (p.Lys30349Met)
c.72809A>T (p.Lys24270Met)
c.62663A>T (p.Lys20888Met)
2g.178537195T>CCA349427172TTN,TTN-AS1c.92210A>G (p.Lys30737Arg)
c.73295A>G (p.Lys24432Arg)
c.73094A>G (p.Lys24365Arg)
c.72719A>G (p.Lys24240Arg)
c.99914A>G (p.Lys33305Arg)
c.94991A>G (p.Lys31664Arg)
n.446+13559T>C
n.317-166T>C
c.99011A>G (p.Lys33004Arg)
c.72905A>G (p.Lys24302Arg)
c.72764A>G (p.Lys24255Arg)
c.98807A>G (p.Lys32936Arg)
c.94205A>G (p.Lys31402Arg)
c.94202A>G (p.Lys31401Arg)
c.91244A>G (p.Lys30415Arg)
c.72860A>G (p.Lys24287Arg)
c.94355A>G (p.Lys31452Arg)
c.94352A>G (p.Lys31451Arg)
c.93785A>G (p.Lys31262Arg)
c.91127A>G (p.Lys30376Arg)
c.91046A>G (p.Lys30349Arg)
c.72809A>G (p.Lys24270Arg)
c.62663A>G (p.Lys20888Arg)
2g.178537195T>GCA349427173TTN,TTN-AS1c.92210A>C (p.Lys30737Thr)
c.73295A>C (p.Lys24432Thr)
c.73094A>C (p.Lys24365Thr)
c.72719A>C (p.Lys24240Thr)
c.99914A>C (p.Lys33305Thr)
c.94991A>C (p.Lys31664Thr)
n.446+13559T>G
n.317-166T>G
c.99011A>C (p.Lys33004Thr)
c.72905A>C (p.Lys24302Thr)
c.72764A>C (p.Lys24255Thr)
c.98807A>C (p.Lys32936Thr)
c.94205A>C (p.Lys31402Thr)
c.94202A>C (p.Lys31401Thr)
c.91244A>C (p.Lys30415Thr)
c.72860A>C (p.Lys24287Thr)
c.94355A>C (p.Lys31452Thr)
c.94352A>C (p.Lys31451Thr)
c.93785A>C (p.Lys31262Thr)
c.91127A>C (p.Lys30376Thr)
c.91046A>C (p.Lys30349Thr)
c.72809A>C (p.Lys24270Thr)
c.62663A>C (p.Lys20888Thr)
2g.178537196T>ACA349427174TTN,TTN-AS1c.92209A>T (p.Lys30737Ter)
c.73294A>T (p.Lys24432Ter)
c.73093A>T (p.Lys24365Ter)
c.72718A>T (p.Lys24240Ter)
c.99913A>T (p.Lys33305Ter)
c.94990A>T (p.Lys31664Ter)
n.446+13560T>A
n.317-165T>A
c.99010A>T (p.Lys33004Ter)
c.72904A>T (p.Lys24302Ter)
c.72763A>T (p.Lys24255Ter)
c.98806A>T (p.Lys32936Ter)
c.94204A>T (p.Lys31402Ter)
c.94201A>T (p.Lys31401Ter)
c.91243A>T (p.Lys30415Ter)
c.72859A>T (p.Lys24287Ter)
c.94354A>T (p.Lys31452Ter)
c.94351A>T (p.Lys31451Ter)
c.93784A>T (p.Lys31262Ter)
c.91126A>T (p.Lys30376Ter)
c.91045A>T (p.Lys30349Ter)
c.72808A>T (p.Lys24270Ter)
c.62662A>T (p.Lys20888Ter)
2g.178537196T>CCA349427175TTN,TTN-AS1c.92209A>G (p.Lys30737Glu)
c.73294A>G (p.Lys24432Glu)
c.73093A>G (p.Lys24365Glu)
c.72718A>G (p.Lys24240Glu)
c.99913A>G (p.Lys33305Glu)
c.94990A>G (p.Lys31664Glu)
n.446+13560T>C
n.317-165T>C
c.99010A>G (p.Lys33004Glu)
c.72904A>G (p.Lys24302Glu)
c.72763A>G (p.Lys24255Glu)
c.98806A>G (p.Lys32936Glu)
c.94204A>G (p.Lys31402Glu)
c.94201A>G (p.Lys31401Glu)
c.91243A>G (p.Lys30415Glu)
c.72859A>G (p.Lys24287Glu)
c.94354A>G (p.Lys31452Glu)
c.94351A>G (p.Lys31451Glu)
c.93784A>G (p.Lys31262Glu)
c.91126A>G (p.Lys30376Glu)
c.91045A>G (p.Lys30349Glu)
c.72808A>G (p.Lys24270Glu)
c.62662A>G (p.Lys20888Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178537196T>GCA349427176TTN,TTN-AS1c.92209A>C (p.Lys30737Gln)
c.73294A>C (p.Lys24432Gln)
c.73093A>C (p.Lys24365Gln)
c.72718A>C (p.Lys24240Gln)
c.99913A>C (p.Lys33305Gln)
c.94990A>C (p.Lys31664Gln)
n.446+13560T>G
n.317-165T>G
c.99010A>C (p.Lys33004Gln)
c.72904A>C (p.Lys24302Gln)
c.72763A>C (p.Lys24255Gln)
c.98806A>C (p.Lys32936Gln)
c.94204A>C (p.Lys31402Gln)
c.94201A>C (p.Lys31401Gln)
c.91243A>C (p.Lys30415Gln)
c.72859A>C (p.Lys24287Gln)
c.94354A>C (p.Lys31452Gln)
c.94351A>C (p.Lys31451Gln)
c.93784A>C (p.Lys31262Gln)
c.91126A>C (p.Lys30376Gln)
c.91045A>C (p.Lys30349Gln)
c.72808A>C (p.Lys24270Gln)
c.62662A>C (p.Lys20888Gln)
2g.178537196T=CA1310515301TTN,TTN-AS1c.92209A= (p.Lys30737=)
c.73294A= (p.Lys24432=)
c.73093A= (p.Lys24365=)
c.72718A= (p.Lys24240=)
c.99913A= (p.Lys33305=)
c.94990A= (p.Lys31664=)
n.446+13560T=
n.317-165T=
c.99010A= (p.Lys33004=)
c.72904A= (p.Lys24302=)
c.72763A= (p.Lys24255=)
c.98806A= (p.Lys32936=)
c.94204A= (p.Lys31402=)
c.94201A= (p.Lys31401=)
c.91243A= (p.Lys30415=)
c.72859A= (p.Lys24287=)
c.94354A= (p.Lys31452=)
c.94351A= (p.Lys31451=)
c.93784A= (p.Lys31262=)
c.91126A= (p.Lys30376=)
c.91045A= (p.Lys30349=)
c.72808A= (p.Lys24270=)
c.62662A= (p.Lys20888=)
2g.178537197C>ACA349427177TTN,TTN-AS1c.92208G>T (p.Leu30736Phe)
c.73293G>T (p.Leu24431Phe)
c.73092G>T (p.Leu24364Phe)
c.72717G>T (p.Leu24239Phe)
c.99912G>T (p.Leu33304Phe)
c.94989G>T (p.Leu31663Phe)
n.446+13561C>A
n.317-164C>A
c.99009G>T (p.Leu33003Phe)
c.72903G>T (p.Leu24301Phe)
c.72762G>T (p.Leu24254Phe)
c.98805G>T (p.Leu32935Phe)
c.94203G>T (p.Leu31401Phe)
c.94200G>T (p.Leu31400Phe)
c.91242G>T (p.Leu30414Phe)
c.72858G>T (p.Leu24286Phe)
c.94353G>T (p.Leu31451Phe)
c.94350G>T (p.Leu31450Phe)
c.93783G>T (p.Leu31261Phe)
c.91125G>T (p.Leu30375Phe)
c.91044G>T (p.Leu30348Phe)
c.72807G>T (p.Leu24269Phe)
c.62661G>T (p.Leu20887Phe)
2g.178537197C>GCA349427178TTN,TTN-AS1c.92208G>C (p.Leu30736Phe)
c.73293G>C (p.Leu24431Phe)
c.73092G>C (p.Leu24364Phe)
c.72717G>C (p.Leu24239Phe)
c.99912G>C (p.Leu33304Phe)
c.94989G>C (p.Leu31663Phe)
n.446+13561C>G
n.317-164C>G
c.99009G>C (p.Leu33003Phe)
c.72903G>C (p.Leu24301Phe)
c.72762G>C (p.Leu24254Phe)
c.98805G>C (p.Leu32935Phe)
c.94203G>C (p.Leu31401Phe)
c.94200G>C (p.Leu31400Phe)
c.91242G>C (p.Leu30414Phe)
c.72858G>C (p.Leu24286Phe)
c.94353G>C (p.Leu31451Phe)
c.94350G>C (p.Leu31450Phe)
c.93783G>C (p.Leu31261Phe)
c.91125G>C (p.Leu30375Phe)
c.91044G>C (p.Leu30348Phe)
c.72807G>C (p.Leu24269Phe)
c.62661G>C (p.Leu20887Phe)
2g.178537197C>TCA430238911TTN,TTN-AS1c.92208G>A (p.Leu30736=)
c.73293G>A (p.Leu24431=)
c.73092G>A (p.Leu24364=)
c.72717G>A (p.Leu24239=)
c.99912G>A (p.Leu33304=)
c.94989G>A (p.Leu31663=)
n.446+13561C>T
n.317-164C>T
c.99009G>A (p.Leu33003=)
c.72903G>A (p.Leu24301=)
c.72762G>A (p.Leu24254=)
c.98805G>A (p.Leu32935=)
c.94203G>A (p.Leu31401=)
c.94200G>A (p.Leu31400=)
c.91242G>A (p.Leu30414=)
c.72858G>A (p.Leu24286=)
c.94353G>A (p.Leu31451=)
c.94350G>A (p.Leu31450=)
c.93783G>A (p.Leu31261=)
c.91125G>A (p.Leu30375=)
c.91044G>A (p.Leu30348=)
c.72807G>A (p.Leu24269=)
c.62661G>A (p.Leu20887=)
 gnomAD v4
2g.178537198A=CA1310515302TTN,TTN-AS1c.92207T= (p.Leu30736=)
c.73292T= (p.Leu24431=)
c.73091T= (p.Leu24364=)
c.72716T= (p.Leu24239=)
c.99911T= (p.Leu33304=)
c.94988T= (p.Leu31663=)
n.446+13562A=
n.317-163A=
c.99008T= (p.Leu33003=)
c.72902T= (p.Leu24301=)
c.72761T= (p.Leu24254=)
c.98804T= (p.Leu32935=)
c.94202T= (p.Leu31401=)
c.94199T= (p.Leu31400=)
c.91241T= (p.Leu30414=)
c.72857T= (p.Leu24286=)
c.94352T= (p.Leu31451=)
c.94349T= (p.Leu31450=)
c.93782T= (p.Leu31261=)
c.91124T= (p.Leu30375=)
c.91043T= (p.Leu30348=)
c.72806T= (p.Leu24269=)
c.62660T= (p.Leu20887=)
2g.178537198A>CCA349427179TTN,TTN-AS1c.92207T>G (p.Leu30736Trp)
c.73292T>G (p.Leu24431Trp)
c.73091T>G (p.Leu24364Trp)
c.72716T>G (p.Leu24239Trp)
c.99911T>G (p.Leu33304Trp)
c.94988T>G (p.Leu31663Trp)
n.446+13562A>C
n.317-163A>C
c.99008T>G (p.Leu33003Trp)
c.72902T>G (p.Leu24301Trp)
c.72761T>G (p.Leu24254Trp)
c.98804T>G (p.Leu32935Trp)
c.94202T>G (p.Leu31401Trp)
c.94199T>G (p.Leu31400Trp)
c.91241T>G (p.Leu30414Trp)
c.72857T>G (p.Leu24286Trp)
c.94352T>G (p.Leu31451Trp)
c.94349T>G (p.Leu31450Trp)
c.93782T>G (p.Leu31261Trp)
c.91124T>G (p.Leu30375Trp)
c.91043T>G (p.Leu30348Trp)
c.72806T>G (p.Leu24269Trp)
c.62660T>G (p.Leu20887Trp)
2g.178537198A>GCA349427180TTN,TTN-AS1c.92207T>C (p.Leu30736Ser)
c.73292T>C (p.Leu24431Ser)
c.73091T>C (p.Leu24364Ser)
c.72716T>C (p.Leu24239Ser)
c.99911T>C (p.Leu33304Ser)
c.94988T>C (p.Leu31663Ser)
n.446+13562A>G
n.317-163A>G
c.99008T>C (p.Leu33003Ser)
c.72902T>C (p.Leu24301Ser)
c.72761T>C (p.Leu24254Ser)
c.98804T>C (p.Leu32935Ser)
c.94202T>C (p.Leu31401Ser)
c.94199T>C (p.Leu31400Ser)
c.91241T>C (p.Leu30414Ser)
c.72857T>C (p.Leu24286Ser)
c.94352T>C (p.Leu31451Ser)
c.94349T>C (p.Leu31450Ser)
c.93782T>C (p.Leu31261Ser)
c.91124T>C (p.Leu30375Ser)
c.91043T>C (p.Leu30348Ser)
c.72806T>C (p.Leu24269Ser)
c.62660T>C (p.Leu20887Ser)
 dbSNP gnomAD v4
2g.178537198A>TCA349427181TTN,TTN-AS1c.92207T>A (p.Leu30736Ter)
c.73292T>A (p.Leu24431Ter)
c.73091T>A (p.Leu24364Ter)
c.72716T>A (p.Leu24239Ter)
c.99911T>A (p.Leu33304Ter)
c.94988T>A (p.Leu31663Ter)
n.446+13562A>T
n.317-163A>T
c.99008T>A (p.Leu33003Ter)
c.72902T>A (p.Leu24301Ter)
c.72761T>A (p.Leu24254Ter)
c.98804T>A (p.Leu32935Ter)
c.94202T>A (p.Leu31401Ter)
c.94199T>A (p.Leu31400Ter)
c.91241T>A (p.Leu30414Ter)
c.72857T>A (p.Leu24286Ter)
c.94352T>A (p.Leu31451Ter)
c.94349T>A (p.Leu31450Ter)
c.93782T>A (p.Leu31261Ter)
c.91124T>A (p.Leu30375Ter)
c.91043T>A (p.Leu30348Ter)
c.72806T>A (p.Leu24269Ter)
c.62660T>A (p.Leu20887Ter)
 gnomAD v4
2g.178537199A=CA1310515304TTN,TTN-AS1c.92206T= (p.Leu30736=)
c.73291T= (p.Leu24431=)
c.73090T= (p.Leu24364=)
c.72715T= (p.Leu24239=)
c.99910T= (p.Leu33304=)
c.94987T= (p.Leu31663=)
n.446+13563A=
n.317-162A=
c.99007T= (p.Leu33003=)
c.72901T= (p.Leu24301=)
c.72760T= (p.Leu24254=)
c.98803T= (p.Leu32935=)
c.94201T= (p.Leu31401=)
c.94198T= (p.Leu31400=)
c.91240T= (p.Leu30414=)
c.72856T= (p.Leu24286=)
c.94351T= (p.Leu31451=)
c.94348T= (p.Leu31450=)
c.93781T= (p.Leu31261=)
c.91123T= (p.Leu30375=)
c.91042T= (p.Leu30348=)
c.72805T= (p.Leu24269=)
c.62659T= (p.Leu20887=)
2g.178537199A>CCA349427183TTN,TTN-AS1c.92206T>G (p.Leu30736Val)
c.73291T>G (p.Leu24431Val)
c.73090T>G (p.Leu24364Val)
c.72715T>G (p.Leu24239Val)
c.99910T>G (p.Leu33304Val)
c.94987T>G (p.Leu31663Val)
n.446+13563A>C
n.317-162A>C
c.99007T>G (p.Leu33003Val)
c.72901T>G (p.Leu24301Val)
c.72760T>G (p.Leu24254Val)
c.98803T>G (p.Leu32935Val)
c.94201T>G (p.Leu31401Val)
c.94198T>G (p.Leu31400Val)
c.91240T>G (p.Leu30414Val)
c.72856T>G (p.Leu24286Val)
c.94351T>G (p.Leu31451Val)
c.94348T>G (p.Leu31450Val)
c.93781T>G (p.Leu31261Val)
c.91123T>G (p.Leu30375Val)
c.91042T>G (p.Leu30348Val)
c.72805T>G (p.Leu24269Val)
c.62659T>G (p.Leu20887Val)
2g.178537199A>GCA430238913TTN,TTN-AS1c.92206T>C (p.Leu30736=)
c.73291T>C (p.Leu24431=)
c.73090T>C (p.Leu24364=)
c.72715T>C (p.Leu24239=)
c.99910T>C (p.Leu33304=)
c.94987T>C (p.Leu31663=)
n.446+13563A>G
n.317-162A>G
c.99007T>C (p.Leu33003=)
c.72901T>C (p.Leu24301=)
c.72760T>C (p.Leu24254=)
c.98803T>C (p.Leu32935=)
c.94201T>C (p.Leu31401=)
c.94198T>C (p.Leu31400=)
c.91240T>C (p.Leu30414=)
c.72856T>C (p.Leu24286=)
c.94351T>C (p.Leu31451=)
c.94348T>C (p.Leu31450=)
c.93781T>C (p.Leu31261=)
c.91123T>C (p.Leu30375=)
c.91042T>C (p.Leu30348=)
c.72805T>C (p.Leu24269=)
c.62659T>C (p.Leu20887=)
 ClinVar dbSNP gnomAD v4
2g.178537199A>TCA349427182TTN,TTN-AS1c.92206T>A (p.Leu30736Met)
c.73291T>A (p.Leu24431Met)
c.73090T>A (p.Leu24364Met)
c.72715T>A (p.Leu24239Met)
c.99910T>A (p.Leu33304Met)
c.94987T>A (p.Leu31663Met)
n.446+13563A>T
n.317-162A>T
c.99007T>A (p.Leu33003Met)
c.72901T>A (p.Leu24301Met)
c.72760T>A (p.Leu24254Met)
c.98803T>A (p.Leu32935Met)
c.94201T>A (p.Leu31401Met)
c.94198T>A (p.Leu31400Met)
c.91240T>A (p.Leu30414Met)
c.72856T>A (p.Leu24286Met)
c.94351T>A (p.Leu31451Met)
c.94348T>A (p.Leu31450Met)
c.93781T>A (p.Leu31261Met)
c.91123T>A (p.Leu30375Met)
c.91042T>A (p.Leu30348Met)
c.72805T>A (p.Leu24269Met)
c.62659T>A (p.Leu20887Met)
2g.178537199_178537200delinsATCA1310515305TTN,TTN-AS1c.92205_92206delinsAT (p.Leu30735=)
c.73290_73291delinsAT (p.Leu24430=)
c.73089_73090delinsAT (p.Leu24363=)
c.72714_72715delinsAT (p.Leu24238=)
c.99909_99910delinsAT (p.Leu33303=)
c.94986_94987delinsAT (p.Leu31662=)
n.446+13563_446+13564delinsAT
n.317-162_317-161delinsAT
c.99006_99007delinsAT (p.Leu33002=)
c.72900_72901delinsAT (p.Leu24300=)
c.72759_72760delinsAT (p.Leu24253=)
c.98802_98803delinsAT (p.Leu32934=)
c.94200_94201delinsAT (p.Leu31400=)
c.94197_94198delinsAT (p.Leu31399=)
c.91239_91240delinsAT (p.Leu30413=)
c.72855_72856delinsAT (p.Leu24285=)
c.94350_94351delinsAT (p.Leu31450=)
c.94347_94348delinsAT (p.Leu31449=)
c.93780_93781delinsAT (p.Leu31260=)
c.91122_91123delinsAT (p.Leu30374=)
c.91041_91042delinsAT (p.Leu30347=)
c.72804_72805delinsAT (p.Leu24268=)
c.62658_62659delinsAT (p.Leu20886=)
2g.178537200delCA916719969TTN,TTN-AS1c.92205del (p.Leu30736Ter)
c.73290del (p.Leu24431Ter)
c.73089del (p.Leu24364Ter)
c.72714del (p.Leu24239Ter)
c.99909del (p.Leu33304Ter)
c.94986del (p.Leu31663Ter)
n.446+13564del
n.317-161del
c.99006del (p.Leu33003Ter)
c.72900del (p.Leu24301Ter)
c.72759del (p.Leu24254Ter)
c.98802del (p.Leu32935Ter)
c.94200del (p.Leu31401Ter)
c.94197del (p.Leu31400Ter)
c.91239del (p.Leu30414Ter)
c.72855del (p.Leu24286Ter)
c.94350del (p.Leu31451Ter)
c.94347del (p.Leu31450Ter)
c.93780del (p.Leu31261Ter)
c.91122del (p.Leu30375Ter)
c.91041del (p.Leu30348Ter)
c.72804del (p.Leu24269Ter)
c.62658del (p.Leu20887Ter)
 ClinVar dbSNP
2g.178537200T>ACA430238914TTN,TTN-AS1c.92205A>T (p.Leu30735=)
c.73290A>T (p.Leu24430=)
c.73089A>T (p.Leu24363=)
c.72714A>T (p.Leu24238=)
c.99909A>T (p.Leu33303=)
c.94986A>T (p.Leu31662=)
n.446+13564T>A
n.317-161T>A
c.99006A>T (p.Leu33002=)
c.72900A>T (p.Leu24300=)
c.72759A>T (p.Leu24253=)
c.98802A>T (p.Leu32934=)
c.94200A>T (p.Leu31400=)
c.94197A>T (p.Leu31399=)
c.91239A>T (p.Leu30413=)
c.72855A>T (p.Leu24285=)
c.94350A>T (p.Leu31450=)
c.94347A>T (p.Leu31449=)
c.93780A>T (p.Leu31260=)
c.91122A>T (p.Leu30374=)
c.91041A>T (p.Leu30347=)
c.72804A>T (p.Leu24268=)
c.62658A>T (p.Leu20886=)
2g.178537200T>CCA60961330TTN,TTN-AS1c.92205A>G (p.Leu30735=)
c.73290A>G (p.Leu24430=)
c.73089A>G (p.Leu24363=)
c.72714A>G (p.Leu24238=)
c.99909A>G (p.Leu33303=)
c.94986A>G (p.Leu31662=)
n.446+13564T>C
n.317-161T>C
c.99006A>G (p.Leu33002=)
c.72900A>G (p.Leu24300=)
c.72759A>G (p.Leu24253=)
c.98802A>G (p.Leu32934=)
c.94200A>G (p.Leu31400=)
c.94197A>G (p.Leu31399=)
c.91239A>G (p.Leu30413=)
c.72855A>G (p.Leu24285=)
c.94350A>G (p.Leu31450=)
c.94347A>G (p.Leu31449=)
c.93780A>G (p.Leu31260=)
c.91122A>G (p.Leu30374=)
c.91041A>G (p.Leu30347=)
c.72804A>G (p.Leu24268=)
c.62658A>G (p.Leu20886=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178537200T>GCA430238915TTN,TTN-AS1c.92205A>C (p.Leu30735=)
c.73290A>C (p.Leu24430=)
c.73089A>C (p.Leu24363=)
c.72714A>C (p.Leu24238=)
c.99909A>C (p.Leu33303=)
c.94986A>C (p.Leu31662=)
n.446+13564T>G
n.317-161T>G
c.99006A>C (p.Leu33002=)
c.72900A>C (p.Leu24300=)
c.72759A>C (p.Leu24253=)
c.98802A>C (p.Leu32934=)
c.94200A>C (p.Leu31400=)
c.94197A>C (p.Leu31399=)
c.91239A>C (p.Leu30413=)
c.72855A>C (p.Leu24285=)
c.94350A>C (p.Leu31450=)
c.94347A>C (p.Leu31449=)
c.93780A>C (p.Leu31260=)
c.91122A>C (p.Leu30374=)
c.91041A>C (p.Leu30347=)
c.72804A>C (p.Leu24268=)
c.62658A>C (p.Leu20886=)
2g.178537200T=CA1310515307TTN,TTN-AS1c.92205A= (p.Leu30735=)
c.73290A= (p.Leu24430=)
c.73089A= (p.Leu24363=)
c.72714A= (p.Leu24238=)
c.99909A= (p.Leu33303=)
c.94986A= (p.Leu31662=)
n.446+13564T=
n.317-161T=
c.99006A= (p.Leu33002=)
c.72900A= (p.Leu24300=)
c.72759A= (p.Leu24253=)
c.98802A= (p.Leu32934=)
c.94200A= (p.Leu31400=)
c.94197A= (p.Leu31399=)
c.91239A= (p.Leu30413=)
c.72855A= (p.Leu24285=)
c.94350A= (p.Leu31450=)
c.94347A= (p.Leu31449=)
c.93780A= (p.Leu31260=)
c.91122A= (p.Leu30374=)
c.91041A= (p.Leu30347=)
c.72804A= (p.Leu24268=)
c.62658A= (p.Leu20886=)
2g.178537201A>CCA349427184TTN,TTN-AS1c.92204T>G (p.Leu30735Arg)
c.73289T>G (p.Leu24430Arg)
c.73088T>G (p.Leu24363Arg)
c.72713T>G (p.Leu24238Arg)
c.99908T>G (p.Leu33303Arg)
c.94985T>G (p.Leu31662Arg)
n.446+13565A>C
n.317-160A>C
c.99005T>G (p.Leu33002Arg)
c.72899T>G (p.Leu24300Arg)
c.72758T>G (p.Leu24253Arg)
c.98801T>G (p.Leu32934Arg)
c.94199T>G (p.Leu31400Arg)
c.94196T>G (p.Leu31399Arg)
c.91238T>G (p.Leu30413Arg)
c.72854T>G (p.Leu24285Arg)
c.94349T>G (p.Leu31450Arg)
c.94346T>G (p.Leu31449Arg)
c.93779T>G (p.Leu31260Arg)
c.91121T>G (p.Leu30374Arg)
c.91040T>G (p.Leu30347Arg)
c.72803T>G (p.Leu24268Arg)
c.62657T>G (p.Leu20886Arg)
 gnomAD v4
2g.178537201A>GCA349427185TTN,TTN-AS1c.92204T>C (p.Leu30735Pro)
c.73289T>C (p.Leu24430Pro)
c.73088T>C (p.Leu24363Pro)
c.72713T>C (p.Leu24238Pro)
c.99908T>C (p.Leu33303Pro)
c.94985T>C (p.Leu31662Pro)
n.446+13565A>G
n.317-160A>G
c.99005T>C (p.Leu33002Pro)
c.72899T>C (p.Leu24300Pro)
c.72758T>C (p.Leu24253Pro)
c.98801T>C (p.Leu32934Pro)
c.94199T>C (p.Leu31400Pro)
c.94196T>C (p.Leu31399Pro)
c.91238T>C (p.Leu30413Pro)
c.72854T>C (p.Leu24285Pro)
c.94349T>C (p.Leu31450Pro)
c.94346T>C (p.Leu31449Pro)
c.93779T>C (p.Leu31260Pro)
c.91121T>C (p.Leu30374Pro)
c.91040T>C (p.Leu30347Pro)
c.72803T>C (p.Leu24268Pro)
c.62657T>C (p.Leu20886Pro)
2g.178537201A>TCA349427186TTN,TTN-AS1c.92204T>A (p.Leu30735Gln)
c.73289T>A (p.Leu24430Gln)
c.73088T>A (p.Leu24363Gln)
c.72713T>A (p.Leu24238Gln)
c.99908T>A (p.Leu33303Gln)
c.94985T>A (p.Leu31662Gln)
n.446+13565A>T
n.317-160A>T
c.99005T>A (p.Leu33002Gln)
c.72899T>A (p.Leu24300Gln)
c.72758T>A (p.Leu24253Gln)
c.98801T>A (p.Leu32934Gln)
c.94199T>A (p.Leu31400Gln)
c.94196T>A (p.Leu31399Gln)
c.91238T>A (p.Leu30413Gln)
c.72854T>A (p.Leu24285Gln)
c.94349T>A (p.Leu31450Gln)
c.94346T>A (p.Leu31449Gln)
c.93779T>A (p.Leu31260Gln)
c.91121T>A (p.Leu30374Gln)
c.91040T>A (p.Leu30347Gln)
c.72803T>A (p.Leu24268Gln)
c.62657T>A (p.Leu20886Gln)
2g.178537202G>ACA430238921TTN,TTN-AS1c.92203C>T (p.Leu30735=)
c.73288C>T (p.Leu24430=)
c.73087C>T (p.Leu24363=)
c.72712C>T (p.Leu24238=)
c.99907C>T (p.Leu33303=)
c.94984C>T (p.Leu31662=)
n.446+13566G>A
n.317-159G>A
c.99004C>T (p.Leu33002=)
c.72898C>T (p.Leu24300=)
c.72757C>T (p.Leu24253=)
c.98800C>T (p.Leu32934=)
c.94198C>T (p.Leu31400=)
c.94195C>T (p.Leu31399=)
c.91237C>T (p.Leu30413=)
c.72853C>T (p.Leu24285=)
c.94348C>T (p.Leu31450=)
c.94345C>T (p.Leu31449=)
c.93778C>T (p.Leu31260=)
c.91120C>T (p.Leu30374=)
c.91039C>T (p.Leu30347=)
c.72802C>T (p.Leu24268=)
c.62656C>T (p.Leu20886=)
 gnomAD v4
2g.178537202G>CCA1986110TTN,TTN-AS1c.92203C>G (p.Leu30735Val)
c.73288C>G (p.Leu24430Val)
c.73087C>G (p.Leu24363Val)
c.72712C>G (p.Leu24238Val)
c.99907C>G (p.Leu33303Val)
c.94984C>G (p.Leu31662Val)
n.446+13566G>C
n.317-159G>C
c.99004C>G (p.Leu33002Val)
c.72898C>G (p.Leu24300Val)
c.72757C>G (p.Leu24253Val)
c.98800C>G (p.Leu32934Val)
c.94198C>G (p.Leu31400Val)
c.94195C>G (p.Leu31399Val)
c.91237C>G (p.Leu30413Val)
c.72853C>G (p.Leu24285Val)
c.94348C>G (p.Leu31450Val)
c.94345C>G (p.Leu31449Val)
c.93778C>G (p.Leu31260Val)
c.91120C>G (p.Leu30374Val)
c.91039C>G (p.Leu30347Val)
c.72802C>G (p.Leu24268Val)
c.62656C>G (p.Leu20886Val)
 dbSNP ExAC gnomAD v2
2g.178537202G=CA1310515308TTN,TTN-AS1c.92203C= (p.Leu30735=)
c.73288C= (p.Leu24430=)
c.73087C= (p.Leu24363=)
c.72712C= (p.Leu24238=)
c.99907C= (p.Leu33303=)
c.94984C= (p.Leu31662=)
n.446+13566G=
n.317-159G=
c.99004C= (p.Leu33002=)
c.72898C= (p.Leu24300=)
c.72757C= (p.Leu24253=)
c.98800C= (p.Leu32934=)
c.94198C= (p.Leu31400=)
c.94195C= (p.Leu31399=)
c.91237C= (p.Leu30413=)
c.72853C= (p.Leu24285=)
c.94348C= (p.Leu31450=)
c.94345C= (p.Leu31449=)
c.93778C= (p.Leu31260=)
c.91120C= (p.Leu30374=)
c.91039C= (p.Leu30347=)
c.72802C= (p.Leu24268=)
c.62656C= (p.Leu20886=)
2g.178537202G>TCA349427187TTN,TTN-AS1c.92203C>A (p.Leu30735Ile)
c.73288C>A (p.Leu24430Ile)
c.73087C>A (p.Leu24363Ile)
c.72712C>A (p.Leu24238Ile)
c.99907C>A (p.Leu33303Ile)
c.94984C>A (p.Leu31662Ile)
n.446+13566G>T
n.317-159G>T
c.99004C>A (p.Leu33002Ile)
c.72898C>A (p.Leu24300Ile)
c.72757C>A (p.Leu24253Ile)
c.98800C>A (p.Leu32934Ile)
c.94198C>A (p.Leu31400Ile)
c.94195C>A (p.Leu31399Ile)
c.91237C>A (p.Leu30413Ile)
c.72853C>A (p.Leu24285Ile)
c.94348C>A (p.Leu31450Ile)
c.94345C>A (p.Leu31449Ile)
c.93778C>A (p.Leu31260Ile)
c.91120C>A (p.Leu30374Ile)
c.91039C>A (p.Leu30347Ile)
c.72802C>A (p.Leu24268Ile)
c.62656C>A (p.Leu20886Ile)
2g.178537203A=CA1310515310TTN,TTN-AS1c.92202T= (p.Ala30734=)
c.73287T= (p.Ala24429=)
c.73086T= (p.Ala24362=)
c.72711T= (p.Ala24237=)
c.99906T= (p.Ala33302=)
c.94983T= (p.Ala31661=)
n.446+13567A=
n.317-158A=
c.99003T= (p.Ala33001=)
c.72897T= (p.Ala24299=)
c.72756T= (p.Ala24252=)
c.98799T= (p.Ala32933=)
c.94197T= (p.Ala31399=)
c.94194T= (p.Ala31398=)
c.91236T= (p.Ala30412=)
c.72852T= (p.Ala24284=)
c.94347T= (p.Ala31449=)
c.94344T= (p.Ala31448=)
c.93777T= (p.Ala31259=)
c.91119T= (p.Ala30373=)
c.91038T= (p.Ala30346=)
c.72801T= (p.Ala24267=)
c.62655T= (p.Ala20885=)
2g.178537203A>CCA430238922TTN,TTN-AS1c.92202T>G (p.Ala30734=)
c.73287T>G (p.Ala24429=)
c.73086T>G (p.Ala24362=)
c.72711T>G (p.Ala24237=)
c.99906T>G (p.Ala33302=)
c.94983T>G (p.Ala31661=)
n.446+13567A>C
n.317-158A>C
c.99003T>G (p.Ala33001=)
c.72897T>G (p.Ala24299=)
c.72756T>G (p.Ala24252=)
c.98799T>G (p.Ala32933=)
c.94197T>G (p.Ala31399=)
c.94194T>G (p.Ala31398=)
c.91236T>G (p.Ala30412=)
c.72852T>G (p.Ala24284=)
c.94347T>G (p.Ala31449=)
c.94344T>G (p.Ala31448=)
c.93777T>G (p.Ala31259=)
c.91119T>G (p.Ala30373=)
c.91038T>G (p.Ala30346=)
c.72801T>G (p.Ala24267=)
c.62655T>G (p.Ala20885=)
2g.178537203A>GCA430238923TTN,TTN-AS1c.92202T>C (p.Ala30734=)
c.73287T>C (p.Ala24429=)
c.73086T>C (p.Ala24362=)
c.72711T>C (p.Ala24237=)
c.99906T>C (p.Ala33302=)
c.94983T>C (p.Ala31661=)
n.446+13567A>G
n.317-158A>G
c.99003T>C (p.Ala33001=)
c.72897T>C (p.Ala24299=)
c.72756T>C (p.Ala24252=)
c.98799T>C (p.Ala32933=)
c.94197T>C (p.Ala31399=)
c.94194T>C (p.Ala31398=)
c.91236T>C (p.Ala30412=)
c.72852T>C (p.Ala24284=)
c.94347T>C (p.Ala31449=)
c.94344T>C (p.Ala31448=)
c.93777T>C (p.Ala31259=)
c.91119T>C (p.Ala30373=)
c.91038T>C (p.Ala30346=)
c.72801T>C (p.Ala24267=)
c.62655T>C (p.Ala20885=)
 dbSNP
2g.178537203A>TCA430238924TTN,TTN-AS1c.92202T>A (p.Ala30734=)
c.73287T>A (p.Ala24429=)
c.73086T>A (p.Ala24362=)
c.72711T>A (p.Ala24237=)
c.99906T>A (p.Ala33302=)
c.94983T>A (p.Ala31661=)
n.446+13567A>T
n.317-158A>T
c.99003T>A (p.Ala33001=)
c.72897T>A (p.Ala24299=)
c.72756T>A (p.Ala24252=)
c.98799T>A (p.Ala32933=)
c.94197T>A (p.Ala31399=)
c.94194T>A (p.Ala31398=)
c.91236T>A (p.Ala30412=)
c.72852T>A (p.Ala24284=)
c.94347T>A (p.Ala31449=)
c.94344T>A (p.Ala31448=)
c.93777T>A (p.Ala31259=)
c.91119T>A (p.Ala30373=)
c.91038T>A (p.Ala30346=)
c.72801T>A (p.Ala24267=)
c.62655T>A (p.Ala20885=)
2g.178537204G>ACA349427188TTN,TTN-AS1c.92201C>T (p.Ala30734Val)
c.73286C>T (p.Ala24429Val)
c.73085C>T (p.Ala24362Val)
c.72710C>T (p.Ala24237Val)
c.99905C>T (p.Ala33302Val)
c.94982C>T (p.Ala31661Val)
n.446+13568G>A
n.317-157G>A
c.99002C>T (p.Ala33001Val)
c.72896C>T (p.Ala24299Val)
c.72755C>T (p.Ala24252Val)
c.98798C>T (p.Ala32933Val)
c.94196C>T (p.Ala31399Val)
c.94193C>T (p.Ala31398Val)
c.91235C>T (p.Ala30412Val)
c.72851C>T (p.Ala24284Val)
c.94346C>T (p.Ala31449Val)
c.94343C>T (p.Ala31448Val)
c.93776C>T (p.Ala31259Val)
c.91118C>T (p.Ala30373Val)
c.91037C>T (p.Ala30346Val)
c.72800C>T (p.Ala24267Val)
c.62654C>T (p.Ala20885Val)
2g.178537204G>CCA349427189TTN,TTN-AS1c.92201C>G (p.Ala30734Gly)
c.73286C>G (p.Ala24429Gly)
c.73085C>G (p.Ala24362Gly)
c.72710C>G (p.Ala24237Gly)
c.99905C>G (p.Ala33302Gly)
c.94982C>G (p.Ala31661Gly)
n.446+13568G>C
n.317-157G>C
c.99002C>G (p.Ala33001Gly)
c.72896C>G (p.Ala24299Gly)
c.72755C>G (p.Ala24252Gly)
c.98798C>G (p.Ala32933Gly)
c.94196C>G (p.Ala31399Gly)
c.94193C>G (p.Ala31398Gly)
c.91235C>G (p.Ala30412Gly)
c.72851C>G (p.Ala24284Gly)
c.94346C>G (p.Ala31449Gly)
c.94343C>G (p.Ala31448Gly)
c.93776C>G (p.Ala31259Gly)
c.91118C>G (p.Ala30373Gly)
c.91037C>G (p.Ala30346Gly)
c.72800C>G (p.Ala24267Gly)
c.62654C>G (p.Ala20885Gly)
 gnomAD v4
2g.178537204G>TCA349427190TTN,TTN-AS1c.92201C>A (p.Ala30734Asp)
c.73286C>A (p.Ala24429Asp)
c.73085C>A (p.Ala24362Asp)
c.72710C>A (p.Ala24237Asp)
c.99905C>A (p.Ala33302Asp)
c.94982C>A (p.Ala31661Asp)
n.446+13568G>T
n.317-157G>T
c.99002C>A (p.Ala33001Asp)
c.72896C>A (p.Ala24299Asp)
c.72755C>A (p.Ala24252Asp)
c.98798C>A (p.Ala32933Asp)
c.94196C>A (p.Ala31399Asp)
c.94193C>A (p.Ala31398Asp)
c.91235C>A (p.Ala30412Asp)
c.72851C>A (p.Ala24284Asp)
c.94346C>A (p.Ala31449Asp)
c.94343C>A (p.Ala31448Asp)
c.93776C>A (p.Ala31259Asp)
c.91118C>A (p.Ala30373Asp)
c.91037C>A (p.Ala30346Asp)
c.72800C>A (p.Ala24267Asp)
c.62654C>A (p.Ala20885Asp)
2g.178537205C>ACA349427191TTN,TTN-AS1c.92200G>T (p.Ala30734Ser)
c.73285G>T (p.Ala24429Ser)
c.73084G>T (p.Ala24362Ser)
c.72709G>T (p.Ala24237Ser)
c.99904G>T (p.Ala33302Ser)
c.94981G>T (p.Ala31661Ser)
n.446+13569C>A
n.317-156C>A
c.99001G>T (p.Ala33001Ser)
c.72895G>T (p.Ala24299Ser)
c.72754G>T (p.Ala24252Ser)
c.98797G>T (p.Ala32933Ser)
c.94195G>T (p.Ala31399Ser)
c.94192G>T (p.Ala31398Ser)
c.91234G>T (p.Ala30412Ser)
c.72850G>T (p.Ala24284Ser)
c.94345G>T (p.Ala31449Ser)
c.94342G>T (p.Ala31448Ser)
c.93775G>T (p.Ala31259Ser)
c.91117G>T (p.Ala30373Ser)
c.91036G>T (p.Ala30346Ser)
c.72799G>T (p.Ala24267Ser)
c.62653G>T (p.Ala20885Ser)
 gnomAD v4
2g.178537205C=CA1310515311TTN,TTN-AS1c.92200G= (p.Ala30734=)
c.73285G= (p.Ala24429=)
c.73084G= (p.Ala24362=)
c.72709G= (p.Ala24237=)
c.99904G= (p.Ala33302=)
c.94981G= (p.Ala31661=)
n.446+13569C=
n.317-156C=
c.99001G= (p.Ala33001=)
c.72895G= (p.Ala24299=)
c.72754G= (p.Ala24252=)
c.98797G= (p.Ala32933=)
c.94195G= (p.Ala31399=)
c.94192G= (p.Ala31398=)
c.91234G= (p.Ala30412=)
c.72850G= (p.Ala24284=)
c.94345G= (p.Ala31449=)
c.94342G= (p.Ala31448=)
c.93775G= (p.Ala31259=)
c.91117G= (p.Ala30373=)
c.91036G= (p.Ala30346=)
c.72799G= (p.Ala24267=)
c.62653G= (p.Ala20885=)
2g.178537205C>GCA349427192TTN,TTN-AS1c.92200G>C (p.Ala30734Pro)
c.73285G>C (p.Ala24429Pro)
c.73084G>C (p.Ala24362Pro)
c.72709G>C (p.Ala24237Pro)
c.99904G>C (p.Ala33302Pro)
c.94981G>C (p.Ala31661Pro)
n.446+13569C>G
n.317-156C>G
c.99001G>C (p.Ala33001Pro)
c.72895G>C (p.Ala24299Pro)
c.72754G>C (p.Ala24252Pro)
c.98797G>C (p.Ala32933Pro)
c.94195G>C (p.Ala31399Pro)
c.94192G>C (p.Ala31398Pro)
c.91234G>C (p.Ala30412Pro)
c.72850G>C (p.Ala24284Pro)
c.94345G>C (p.Ala31449Pro)
c.94342G>C (p.Ala31448Pro)
c.93775G>C (p.Ala31259Pro)
c.91117G>C (p.Ala30373Pro)
c.91036G>C (p.Ala30346Pro)
c.72799G>C (p.Ala24267Pro)
c.62653G>C (p.Ala20885Pro)
 gnomAD v4
2g.178537205C>TCA349427193TTN,TTN-AS1c.92200G>A (p.Ala30734Thr)
c.73285G>A (p.Ala24429Thr)
c.73084G>A (p.Ala24362Thr)
c.72709G>A (p.Ala24237Thr)
c.99904G>A (p.Ala33302Thr)
c.94981G>A (p.Ala31661Thr)
n.446+13569C>T
n.317-156C>T
c.99001G>A (p.Ala33001Thr)
c.72895G>A (p.Ala24299Thr)
c.72754G>A (p.Ala24252Thr)
c.98797G>A (p.Ala32933Thr)
c.94195G>A (p.Ala31399Thr)
c.94192G>A (p.Ala31398Thr)
c.91234G>A (p.Ala30412Thr)
c.72850G>A (p.Ala24284Thr)
c.94345G>A (p.Ala31449Thr)
c.94342G>A (p.Ala31448Thr)
c.93775G>A (p.Ala31259Thr)
c.91117G>A (p.Ala30373Thr)
c.91036G>A (p.Ala30346Thr)
c.72799G>A (p.Ala24267Thr)
c.62653G>A (p.Ala20885Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178537206T>ACA349427194TTN,TTN-AS1c.92199A>T (p.Glu30733Asp)
c.73284A>T (p.Glu24428Asp)
c.73083A>T (p.Glu24361Asp)
c.72708A>T (p.Glu24236Asp)
c.99903A>T (p.Glu33301Asp)
c.94980A>T (p.Glu31660Asp)
n.446+13570T>A
n.317-155T>A
c.99000A>T (p.Glu33000Asp)
c.72894A>T (p.Glu24298Asp)
c.72753A>T (p.Glu24251Asp)
c.98796A>T (p.Glu32932Asp)
c.94194A>T (p.Glu31398Asp)
c.94191A>T (p.Glu31397Asp)
c.91233A>T (p.Glu30411Asp)
c.72849A>T (p.Glu24283Asp)
c.94344A>T (p.Glu31448Asp)
c.94341A>T (p.Glu31447Asp)
c.93774A>T (p.Glu31258Asp)
c.91116A>T (p.Glu30372Asp)
c.91035A>T (p.Glu30345Asp)
c.72798A>T (p.Glu24266Asp)
c.62652A>T (p.Glu20884Asp)
 gnomAD v4
2g.178537206T>CCA10613010TTN,TTN-AS1c.92199A>G (p.Glu30733=)
c.73284A>G (p.Glu24428=)
c.73083A>G (p.Glu24361=)
c.72708A>G (p.Glu24236=)
c.99903A>G (p.Glu33301=)
c.94980A>G (p.Glu31660=)
n.446+13570T>C
n.317-155T>C
c.99000A>G (p.Glu33000=)
c.72894A>G (p.Glu24298=)
c.72753A>G (p.Glu24251=)
c.98796A>G (p.Glu32932=)
c.94194A>G (p.Glu31398=)
c.94191A>G (p.Glu31397=)
c.91233A>G (p.Glu30411=)
c.72849A>G (p.Glu24283=)
c.94344A>G (p.Glu31448=)
c.94341A>G (p.Glu31447=)
c.93774A>G (p.Glu31258=)
c.91116A>G (p.Glu30372=)
c.91035A>G (p.Glu30345=)
c.72798A>G (p.Glu24266=)
c.62652A>G (p.Glu20884=)
 ClinVar dbSNP
2g.178537206T>GCA349427195TTN,TTN-AS1c.92199A>C (p.Glu30733Asp)
c.73284A>C (p.Glu24428Asp)
c.73083A>C (p.Glu24361Asp)
c.72708A>C (p.Glu24236Asp)
c.99903A>C (p.Glu33301Asp)
c.94980A>C (p.Glu31660Asp)
n.446+13570T>G
n.317-155T>G
c.99000A>C (p.Glu33000Asp)
c.72894A>C (p.Glu24298Asp)
c.72753A>C (p.Glu24251Asp)
c.98796A>C (p.Glu32932Asp)
c.94194A>C (p.Glu31398Asp)
c.94191A>C (p.Glu31397Asp)
c.91233A>C (p.Glu30411Asp)
c.72849A>C (p.Glu24283Asp)
c.94344A>C (p.Glu31448Asp)
c.94341A>C (p.Glu31447Asp)
c.93774A>C (p.Glu31258Asp)
c.91116A>C (p.Glu30372Asp)
c.91035A>C (p.Glu30345Asp)
c.72798A>C (p.Glu24266Asp)
c.62652A>C (p.Glu20884Asp)
2g.178537206T=CA1310515314TTN,TTN-AS1c.92199A= (p.Glu30733=)
c.73284A= (p.Glu24428=)
c.73083A= (p.Glu24361=)
c.72708A= (p.Glu24236=)
c.99903A= (p.Glu33301=)
c.94980A= (p.Glu31660=)
n.446+13570T=
n.317-155T=
c.99000A= (p.Glu33000=)
c.72894A= (p.Glu24298=)
c.72753A= (p.Glu24251=)
c.98796A= (p.Glu32932=)
c.94194A= (p.Glu31398=)
c.94191A= (p.Glu31397=)
c.91233A= (p.Glu30411=)
c.72849A= (p.Glu24283=)
c.94344A= (p.Glu31448=)
c.94341A= (p.Glu31447=)
c.93774A= (p.Glu31258=)
c.91116A= (p.Glu30372=)
c.91035A= (p.Glu30345=)
c.72798A= (p.Glu24266=)
c.62652A= (p.Glu20884=)
2g.178537207T>ACA349427196TTN,TTN-AS1c.92198A>T (p.Glu30733Val)
c.73283A>T (p.Glu24428Val)
c.73082A>T (p.Glu24361Val)
c.72707A>T (p.Glu24236Val)
c.99902A>T (p.Glu33301Val)
c.94979A>T (p.Glu31660Val)
n.446+13571T>A
n.317-154T>A
c.98999A>T (p.Glu33000Val)
c.72893A>T (p.Glu24298Val)
c.72752A>T (p.Glu24251Val)
c.98795A>T (p.Glu32932Val)
c.94193A>T (p.Glu31398Val)
c.94190A>T (p.Glu31397Val)
c.91232A>T (p.Glu30411Val)
c.72848A>T (p.Glu24283Val)
c.94343A>T (p.Glu31448Val)
c.94340A>T (p.Glu31447Val)
c.93773A>T (p.Glu31258Val)
c.91115A>T (p.Glu30372Val)
c.91034A>T (p.Glu30345Val)
c.72797A>T (p.Glu24266Val)
c.62651A>T (p.Glu20884Val)
2g.178537207T>CCA349427197TTN,TTN-AS1c.92198A>G (p.Glu30733Gly)
c.73283A>G (p.Glu24428Gly)
c.73082A>G (p.Glu24361Gly)
c.72707A>G (p.Glu24236Gly)
c.99902A>G (p.Glu33301Gly)
c.94979A>G (p.Glu31660Gly)
n.446+13571T>C
n.317-154T>C
c.98999A>G (p.Glu33000Gly)
c.72893A>G (p.Glu24298Gly)
c.72752A>G (p.Glu24251Gly)
c.98795A>G (p.Glu32932Gly)
c.94193A>G (p.Glu31398Gly)
c.94190A>G (p.Glu31397Gly)
c.91232A>G (p.Glu30411Gly)
c.72848A>G (p.Glu24283Gly)
c.94343A>G (p.Glu31448Gly)
c.94340A>G (p.Glu31447Gly)
c.93773A>G (p.Glu31258Gly)
c.91115A>G (p.Glu30372Gly)
c.91034A>G (p.Glu30345Gly)
c.72797A>G (p.Glu24266Gly)
c.62651A>G (p.Glu20884Gly)
 gnomAD v4
2g.178537207T>GCA1986111TTN,TTN-AS1c.92198A>C (p.Glu30733Ala)
c.73283A>C (p.Glu24428Ala)
c.73082A>C (p.Glu24361Ala)
c.72707A>C (p.Glu24236Ala)
c.99902A>C (p.Glu33301Ala)
c.94979A>C (p.Glu31660Ala)
n.446+13571T>G
n.317-154T>G
c.98999A>C (p.Glu33000Ala)
c.72893A>C (p.Glu24298Ala)
c.72752A>C (p.Glu24251Ala)
c.98795A>C (p.Glu32932Ala)
c.94193A>C (p.Glu31398Ala)
c.94190A>C (p.Glu31397Ala)
c.91232A>C (p.Glu30411Ala)
c.72848A>C (p.Glu24283Ala)
c.94343A>C (p.Glu31448Ala)
c.94340A>C (p.Glu31447Ala)
c.93773A>C (p.Glu31258Ala)
c.91115A>C (p.Glu30372Ala)
c.91034A>C (p.Glu30345Ala)
c.72797A>C (p.Glu24266Ala)
c.62651A>C (p.Glu20884Ala)
 dbSNP ExAC gnomAD v2
2g.178537207T=CA1310515316TTN,TTN-AS1c.92198A= (p.Glu30733=)
c.73283A= (p.Glu24428=)
c.73082A= (p.Glu24361=)
c.72707A= (p.Glu24236=)
c.99902A= (p.Glu33301=)
c.94979A= (p.Glu31660=)
n.446+13571T=
n.317-154T=
c.98999A= (p.Glu33000=)
c.72893A= (p.Glu24298=)
c.72752A= (p.Glu24251=)
c.98795A= (p.Glu32932=)
c.94193A= (p.Glu31398=)
c.94190A= (p.Glu31397=)
c.91232A= (p.Glu30411=)
c.72848A= (p.Glu24283=)
c.94343A= (p.Glu31448=)
c.94340A= (p.Glu31447=)
c.93773A= (p.Glu31258=)
c.91115A= (p.Glu30372=)
c.91034A= (p.Glu30345=)
c.72797A= (p.Glu24266=)
c.62651A= (p.Glu20884=)
2g.178537208C>ACA349427198TTN,TTN-AS1c.92197G>T (p.Glu30733Ter)
c.73282G>T (p.Glu24428Ter)
c.73081G>T (p.Glu24361Ter)
c.72706G>T (p.Glu24236Ter)
c.99901G>T (p.Glu33301Ter)
c.94978G>T (p.Glu31660Ter)
n.446+13572C>A
n.317-153C>A
c.98998G>T (p.Glu33000Ter)
c.72892G>T (p.Glu24298Ter)
c.72751G>T (p.Glu24251Ter)
c.98794G>T (p.Glu32932Ter)
c.94192G>T (p.Glu31398Ter)
c.94189G>T (p.Glu31397Ter)
c.91231G>T (p.Glu30411Ter)
c.72847G>T (p.Glu24283Ter)
c.94342G>T (p.Glu31448Ter)
c.94339G>T (p.Glu31447Ter)
c.93772G>T (p.Glu31258Ter)
c.91114G>T (p.Glu30372Ter)
c.91033G>T (p.Glu30345Ter)
c.72796G>T (p.Glu24266Ter)
c.62650G>T (p.Glu20884Ter)
2g.178537208C=CA1310515318TTN,TTN-AS1c.92197G= (p.Glu30733=)
c.73282G= (p.Glu24428=)
c.73081G= (p.Glu24361=)
c.72706G= (p.Glu24236=)
c.99901G= (p.Glu33301=)
c.94978G= (p.Glu31660=)
n.446+13572C=
n.317-153C=
c.98998G= (p.Glu33000=)
c.72892G= (p.Glu24298=)
c.72751G= (p.Glu24251=)
c.98794G= (p.Glu32932=)
c.94192G= (p.Glu31398=)
c.94189G= (p.Glu31397=)
c.91231G= (p.Glu30411=)
c.72847G= (p.Glu24283=)
c.94342G= (p.Glu31448=)
c.94339G= (p.Glu31447=)
c.93772G= (p.Glu31258=)
c.91114G= (p.Glu30372=)
c.91033G= (p.Glu30345=)
c.72796G= (p.Glu24266=)
c.62650G= (p.Glu20884=)
2g.178537208C>GCA349427199TTN,TTN-AS1c.92197G>C (p.Glu30733Gln)
c.73282G>C (p.Glu24428Gln)
c.73081G>C (p.Glu24361Gln)
c.72706G>C (p.Glu24236Gln)
c.99901G>C (p.Glu33301Gln)
c.94978G>C (p.Glu31660Gln)
n.446+13572C>G
n.317-153C>G
c.98998G>C (p.Glu33000Gln)
c.72892G>C (p.Glu24298Gln)
c.72751G>C (p.Glu24251Gln)
c.98794G>C (p.Glu32932Gln)
c.94192G>C (p.Glu31398Gln)
c.94189G>C (p.Glu31397Gln)
c.91231G>C (p.Glu30411Gln)
c.72847G>C (p.Glu24283Gln)
c.94342G>C (p.Glu31448Gln)
c.94339G>C (p.Glu31447Gln)
c.93772G>C (p.Glu31258Gln)
c.91114G>C (p.Glu30372Gln)
c.91033G>C (p.Glu30345Gln)
c.72796G>C (p.Glu24266Gln)
c.62650G>C (p.Glu20884Gln)
2g.178537208C>TCA141530TTN,TTN-AS1c.92197G>A (p.Glu30733Lys)
c.73282G>A (p.Glu24428Lys)
c.73081G>A (p.Glu24361Lys)
c.72706G>A (p.Glu24236Lys)
c.99901G>A (p.Glu33301Lys)
c.94978G>A (p.Glu31660Lys)
n.446+13572C>T
n.317-153C>T
c.98998G>A (p.Glu33000Lys)
c.72892G>A (p.Glu24298Lys)
c.72751G>A (p.Glu24251Lys)
c.98794G>A (p.Glu32932Lys)
c.94192G>A (p.Glu31398Lys)
c.94189G>A (p.Glu31397Lys)
c.91231G>A (p.Glu30411Lys)
c.72847G>A (p.Glu24283Lys)
c.94342G>A (p.Glu31448Lys)
c.94339G>A (p.Glu31447Lys)
c.93772G>A (p.Glu31258Lys)
c.91114G>A (p.Glu30372Lys)
c.91033G>A (p.Glu30345Lys)
c.72796G>A (p.Glu24266Lys)
c.62650G>A (p.Glu20884Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537209G>ACA1986112TTN,TTN-AS1c.92196C>T (p.Ile30732=)
c.73281C>T (p.Ile24427=)
c.73080C>T (p.Ile24360=)
c.72705C>T (p.Ile24235=)
c.99900C>T (p.Ile33300=)
c.94977C>T (p.Ile31659=)
n.446+13573G>A
n.317-152G>A
c.98997C>T (p.Ile32999=)
c.72891C>T (p.Ile24297=)
c.72750C>T (p.Ile24250=)
c.98793C>T (p.Ile32931=)
c.94191C>T (p.Ile31397=)
c.94188C>T (p.Ile31396=)
c.91230C>T (p.Ile30410=)
c.72846C>T (p.Ile24282=)
c.94341C>T (p.Ile31447=)
c.94338C>T (p.Ile31446=)
c.93771C>T (p.Ile31257=)
c.91113C>T (p.Ile30371=)
c.91032C>T (p.Ile30344=)
c.72795C>T (p.Ile24265=)
c.62649C>T (p.Ile20883=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537209G>CCA349427200TTN,TTN-AS1c.92196C>G (p.Ile30732Met)
c.73281C>G (p.Ile24427Met)
c.73080C>G (p.Ile24360Met)
c.72705C>G (p.Ile24235Met)
c.99900C>G (p.Ile33300Met)
c.94977C>G (p.Ile31659Met)
n.446+13573G>C
n.317-152G>C
c.98997C>G (p.Ile32999Met)
c.72891C>G (p.Ile24297Met)
c.72750C>G (p.Ile24250Met)
c.98793C>G (p.Ile32931Met)
c.94191C>G (p.Ile31397Met)
c.94188C>G (p.Ile31396Met)
c.91230C>G (p.Ile30410Met)
c.72846C>G (p.Ile24282Met)
c.94341C>G (p.Ile31447Met)
c.94338C>G (p.Ile31446Met)
c.93771C>G (p.Ile31257Met)
c.91113C>G (p.Ile30371Met)
c.91032C>G (p.Ile30344Met)
c.72795C>G (p.Ile24265Met)
c.62649C>G (p.Ile20883Met)
2g.178537209G=CA1310515321TTN,TTN-AS1c.92196C= (p.Ile30732=)
c.73281C= (p.Ile24427=)
c.73080C= (p.Ile24360=)
c.72705C= (p.Ile24235=)
c.99900C= (p.Ile33300=)
c.94977C= (p.Ile31659=)
n.446+13573G=
n.317-152G=
c.98997C= (p.Ile32999=)
c.72891C= (p.Ile24297=)
c.72750C= (p.Ile24250=)
c.98793C= (p.Ile32931=)
c.94191C= (p.Ile31397=)
c.94188C= (p.Ile31396=)
c.91230C= (p.Ile30410=)
c.72846C= (p.Ile24282=)
c.94341C= (p.Ile31447=)
c.94338C= (p.Ile31446=)
c.93771C= (p.Ile31257=)
c.91113C= (p.Ile30371=)
c.91032C= (p.Ile30344=)
c.72795C= (p.Ile24265=)
c.62649C= (p.Ile20883=)
2g.178537209G>TCA430238931TTN,TTN-AS1c.92196C>A (p.Ile30732=)
c.73281C>A (p.Ile24427=)
c.73080C>A (p.Ile24360=)
c.72705C>A (p.Ile24235=)
c.99900C>A (p.Ile33300=)
c.94977C>A (p.Ile31659=)
n.446+13573G>T
n.317-152G>T
c.98997C>A (p.Ile32999=)
c.72891C>A (p.Ile24297=)
c.72750C>A (p.Ile24250=)
c.98793C>A (p.Ile32931=)
c.94191C>A (p.Ile31397=)
c.94188C>A (p.Ile31396=)
c.91230C>A (p.Ile30410=)
c.72846C>A (p.Ile24282=)
c.94341C>A (p.Ile31447=)
c.94338C>A (p.Ile31446=)
c.93771C>A (p.Ile31257=)
c.91113C>A (p.Ile30371=)
c.91032C>A (p.Ile30344=)
c.72795C>A (p.Ile24265=)
c.62649C>A (p.Ile20883=)
2g.178537210A>CCA349427201TTN,TTN-AS1c.92195T>G (p.Ile30732Ser)
c.73280T>G (p.Ile24427Ser)
c.73079T>G (p.Ile24360Ser)
c.72704T>G (p.Ile24235Ser)
c.99899T>G (p.Ile33300Ser)
c.94976T>G (p.Ile31659Ser)
n.446+13574A>C
n.317-151A>C
c.98996T>G (p.Ile32999Ser)
c.72890T>G (p.Ile24297Ser)
c.72749T>G (p.Ile24250Ser)
c.98792T>G (p.Ile32931Ser)
c.94190T>G (p.Ile31397Ser)
c.94187T>G (p.Ile31396Ser)
c.91229T>G (p.Ile30410Ser)
c.72845T>G (p.Ile24282Ser)
c.94340T>G (p.Ile31447Ser)
c.94337T>G (p.Ile31446Ser)
c.93770T>G (p.Ile31257Ser)
c.91112T>G (p.Ile30371Ser)
c.91031T>G (p.Ile30344Ser)
c.72794T>G (p.Ile24265Ser)
c.62648T>G (p.Ile20883Ser)
2g.178537210A>GCA349427202TTN,TTN-AS1c.92195T>C (p.Ile30732Thr)
c.73280T>C (p.Ile24427Thr)
c.73079T>C (p.Ile24360Thr)
c.72704T>C (p.Ile24235Thr)
c.99899T>C (p.Ile33300Thr)
c.94976T>C (p.Ile31659Thr)
n.446+13574A>G
n.317-151A>G
c.98996T>C (p.Ile32999Thr)
c.72890T>C (p.Ile24297Thr)
c.72749T>C (p.Ile24250Thr)
c.98792T>C (p.Ile32931Thr)
c.94190T>C (p.Ile31397Thr)
c.94187T>C (p.Ile31396Thr)
c.91229T>C (p.Ile30410Thr)
c.72845T>C (p.Ile24282Thr)
c.94340T>C (p.Ile31447Thr)
c.94337T>C (p.Ile31446Thr)
c.93770T>C (p.Ile31257Thr)
c.91112T>C (p.Ile30371Thr)
c.91031T>C (p.Ile30344Thr)
c.72794T>C (p.Ile24265Thr)
c.62648T>C (p.Ile20883Thr)
2g.178537210A>TCA349427203TTN,TTN-AS1c.92195T>A (p.Ile30732Asn)
c.73280T>A (p.Ile24427Asn)
c.73079T>A (p.Ile24360Asn)
c.72704T>A (p.Ile24235Asn)
c.99899T>A (p.Ile33300Asn)
c.94976T>A (p.Ile31659Asn)
n.446+13574A>T
n.317-151A>T
c.98996T>A (p.Ile32999Asn)
c.72890T>A (p.Ile24297Asn)
c.72749T>A (p.Ile24250Asn)
c.98792T>A (p.Ile32931Asn)
c.94190T>A (p.Ile31397Asn)
c.94187T>A (p.Ile31396Asn)
c.91229T>A (p.Ile30410Asn)
c.72845T>A (p.Ile24282Asn)
c.94340T>A (p.Ile31447Asn)
c.94337T>A (p.Ile31446Asn)
c.93770T>A (p.Ile31257Asn)
c.91112T>A (p.Ile30371Asn)
c.91031T>A (p.Ile30344Asn)
c.72794T>A (p.Ile24265Asn)
c.62648T>A (p.Ile20883Asn)
2g.178537211T>ACA349427204TTN,TTN-AS1c.92194A>T (p.Ile30732Phe)
c.73279A>T (p.Ile24427Phe)
c.73078A>T (p.Ile24360Phe)
c.72703A>T (p.Ile24235Phe)
c.99898A>T (p.Ile33300Phe)
c.94975A>T (p.Ile31659Phe)
n.446+13575T>A
n.317-150T>A
c.98995A>T (p.Ile32999Phe)
c.72889A>T (p.Ile24297Phe)
c.72748A>T (p.Ile24250Phe)
c.98791A>T (p.Ile32931Phe)
c.94189A>T (p.Ile31397Phe)
c.94186A>T (p.Ile31396Phe)
c.91228A>T (p.Ile30410Phe)
c.72844A>T (p.Ile24282Phe)
c.94339A>T (p.Ile31447Phe)
c.94336A>T (p.Ile31446Phe)
c.93769A>T (p.Ile31257Phe)
c.91111A>T (p.Ile30371Phe)
c.91030A>T (p.Ile30344Phe)
c.72793A>T (p.Ile24265Phe)
c.62647A>T (p.Ile20883Phe)
2g.178537211T>CCA349427205TTN,TTN-AS1c.92194A>G (p.Ile30732Val)
c.73279A>G (p.Ile24427Val)
c.73078A>G (p.Ile24360Val)
c.72703A>G (p.Ile24235Val)
c.99898A>G (p.Ile33300Val)
c.94975A>G (p.Ile31659Val)
n.446+13575T>C
n.317-150T>C
c.98995A>G (p.Ile32999Val)
c.72889A>G (p.Ile24297Val)
c.72748A>G (p.Ile24250Val)
c.98791A>G (p.Ile32931Val)
c.94189A>G (p.Ile31397Val)
c.94186A>G (p.Ile31396Val)
c.91228A>G (p.Ile30410Val)
c.72844A>G (p.Ile24282Val)
c.94339A>G (p.Ile31447Val)
c.94336A>G (p.Ile31446Val)
c.93769A>G (p.Ile31257Val)
c.91111A>G (p.Ile30371Val)
c.91030A>G (p.Ile30344Val)
c.72793A>G (p.Ile24265Val)
c.62647A>G (p.Ile20883Val)
 gnomAD v4
2g.178537211T>GCA349427206TTN,TTN-AS1c.92194A>C (p.Ile30732Leu)
c.73279A>C (p.Ile24427Leu)
c.73078A>C (p.Ile24360Leu)
c.72703A>C (p.Ile24235Leu)
c.99898A>C (p.Ile33300Leu)
c.94975A>C (p.Ile31659Leu)
n.446+13575T>G
n.317-150T>G
c.98995A>C (p.Ile32999Leu)
c.72889A>C (p.Ile24297Leu)
c.72748A>C (p.Ile24250Leu)
c.98791A>C (p.Ile32931Leu)
c.94189A>C (p.Ile31397Leu)
c.94186A>C (p.Ile31396Leu)
c.91228A>C (p.Ile30410Leu)
c.72844A>C (p.Ile24282Leu)
c.94339A>C (p.Ile31447Leu)
c.94336A>C (p.Ile31446Leu)
c.93769A>C (p.Ile31257Leu)
c.91111A>C (p.Ile30371Leu)
c.91030A>C (p.Ile30344Leu)
c.72793A>C (p.Ile24265Leu)
c.62647A>C (p.Ile20883Leu)
2g.178537212C>ACA430238935TTN,TTN-AS1c.92193G>T (p.Val30731=)
c.73278G>T (p.Val24426=)
c.73077G>T (p.Val24359=)
c.72702G>T (p.Val24234=)
c.99897G>T (p.Val33299=)
c.94974G>T (p.Val31658=)
n.446+13576C>A
n.317-149C>A
c.98994G>T (p.Val32998=)
c.72888G>T (p.Val24296=)
c.72747G>T (p.Val24249=)
c.98790G>T (p.Val32930=)
c.94188G>T (p.Val31396=)
c.94185G>T (p.Val31395=)
c.91227G>T (p.Val30409=)
c.72843G>T (p.Val24281=)
c.94338G>T (p.Val31446=)
c.94335G>T (p.Val31445=)
c.93768G>T (p.Val31256=)
c.91110G>T (p.Val30370=)
c.91029G>T (p.Val30343=)
c.72792G>T (p.Val24264=)
c.62646G>T (p.Val20882=)
 gnomAD v4
2g.178537212C>GCA430238936TTN,TTN-AS1c.92193G>C (p.Val30731=)
c.73278G>C (p.Val24426=)
c.73077G>C (p.Val24359=)
c.72702G>C (p.Val24234=)
c.99897G>C (p.Val33299=)
c.94974G>C (p.Val31658=)
n.446+13576C>G
n.317-149C>G
c.98994G>C (p.Val32998=)
c.72888G>C (p.Val24296=)
c.72747G>C (p.Val24249=)
c.98790G>C (p.Val32930=)
c.94188G>C (p.Val31396=)
c.94185G>C (p.Val31395=)
c.91227G>C (p.Val30409=)
c.72843G>C (p.Val24281=)
c.94338G>C (p.Val31446=)
c.94335G>C (p.Val31445=)
c.93768G>C (p.Val31256=)
c.91110G>C (p.Val30370=)
c.91029G>C (p.Val30343=)
c.72792G>C (p.Val24264=)
c.62646G>C (p.Val20882=)
2g.178537212C>TCA430238938TTN,TTN-AS1c.92193G>A (p.Val30731=)
c.73278G>A (p.Val24426=)
c.73077G>A (p.Val24359=)
c.72702G>A (p.Val24234=)
c.99897G>A (p.Val33299=)
c.94974G>A (p.Val31658=)
n.446+13576C>T
n.317-149C>T
c.98994G>A (p.Val32998=)
c.72888G>A (p.Val24296=)
c.72747G>A (p.Val24249=)
c.98790G>A (p.Val32930=)
c.94188G>A (p.Val31396=)
c.94185G>A (p.Val31395=)
c.91227G>A (p.Val30409=)
c.72843G>A (p.Val24281=)
c.94338G>A (p.Val31446=)
c.94335G>A (p.Val31445=)
c.93768G>A (p.Val31256=)
c.91110G>A (p.Val30370=)
c.91029G>A (p.Val30343=)
c.72792G>A (p.Val24264=)
c.62646G>A (p.Val20882=)
2g.178537213A=CA1310515323TTN,TTN-AS1c.92192T= (p.Val30731=)
c.73277T= (p.Val24426=)
c.73076T= (p.Val24359=)
c.72701T= (p.Val24234=)
c.99896T= (p.Val33299=)
c.94973T= (p.Val31658=)
n.446+13577A=
n.317-148A=
c.98993T= (p.Val32998=)
c.72887T= (p.Val24296=)
c.72746T= (p.Val24249=)
c.98789T= (p.Val32930=)
c.94187T= (p.Val31396=)
c.94184T= (p.Val31395=)
c.91226T= (p.Val30409=)
c.72842T= (p.Val24281=)
c.94337T= (p.Val31446=)
c.94334T= (p.Val31445=)
c.93767T= (p.Val31256=)
c.91109T= (p.Val30370=)
c.91028T= (p.Val30343=)
c.72791T= (p.Val24264=)
c.62645T= (p.Val20882=)
2g.178537213A>CCA349427208TTN,TTN-AS1c.92192T>G (p.Val30731Gly)
c.73277T>G (p.Val24426Gly)
c.73076T>G (p.Val24359Gly)
c.72701T>G (p.Val24234Gly)
c.99896T>G (p.Val33299Gly)
c.94973T>G (p.Val31658Gly)
n.446+13577A>C
n.317-148A>C
c.98993T>G (p.Val32998Gly)
c.72887T>G (p.Val24296Gly)
c.72746T>G (p.Val24249Gly)
c.98789T>G (p.Val32930Gly)
c.94187T>G (p.Val31396Gly)
c.94184T>G (p.Val31395Gly)
c.91226T>G (p.Val30409Gly)
c.72842T>G (p.Val24281Gly)
c.94337T>G (p.Val31446Gly)
c.94334T>G (p.Val31445Gly)
c.93767T>G (p.Val31256Gly)
c.91109T>G (p.Val30370Gly)
c.91028T>G (p.Val30343Gly)
c.72791T>G (p.Val24264Gly)
c.62645T>G (p.Val20882Gly)
2g.178537213A>GCA311088TTN,TTN-AS1c.92192T>C (p.Val30731Ala)
c.73277T>C (p.Val24426Ala)
c.73076T>C (p.Val24359Ala)
c.72701T>C (p.Val24234Ala)
c.99896T>C (p.Val33299Ala)
c.94973T>C (p.Val31658Ala)
n.446+13577A>G
n.317-148A>G
c.98993T>C (p.Val32998Ala)
c.72887T>C (p.Val24296Ala)
c.72746T>C (p.Val24249Ala)
c.98789T>C (p.Val32930Ala)
c.94187T>C (p.Val31396Ala)
c.94184T>C (p.Val31395Ala)
c.91226T>C (p.Val30409Ala)
c.72842T>C (p.Val24281Ala)
c.94337T>C (p.Val31446Ala)
c.94334T>C (p.Val31445Ala)
c.93767T>C (p.Val31256Ala)
c.91109T>C (p.Val30370Ala)
c.91028T>C (p.Val30343Ala)
c.72791T>C (p.Val24264Ala)
c.62645T>C (p.Val20882Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537213A>TCA349427207TTN,TTN-AS1c.92192T>A (p.Val30731Glu)
c.73277T>A (p.Val24426Glu)
c.73076T>A (p.Val24359Glu)
c.72701T>A (p.Val24234Glu)
c.99896T>A (p.Val33299Glu)
c.94973T>A (p.Val31658Glu)
n.446+13577A>T
n.317-148A>T
c.98993T>A (p.Val32998Glu)
c.72887T>A (p.Val24296Glu)
c.72746T>A (p.Val24249Glu)
c.98789T>A (p.Val32930Glu)
c.94187T>A (p.Val31396Glu)
c.94184T>A (p.Val31395Glu)
c.91226T>A (p.Val30409Glu)
c.72842T>A (p.Val24281Glu)
c.94337T>A (p.Val31446Glu)
c.94334T>A (p.Val31445Glu)
c.93767T>A (p.Val31256Glu)
c.91109T>A (p.Val30370Glu)
c.91028T>A (p.Val30343Glu)
c.72791T>A (p.Val24264Glu)
c.62645T>A (p.Val20882Glu)
2g.178537214C>ACA349427209TTN,TTN-AS1c.92191G>T (p.Val30731Leu)
c.73276G>T (p.Val24426Leu)
c.73075G>T (p.Val24359Leu)
c.72700G>T (p.Val24234Leu)
c.99895G>T (p.Val33299Leu)
c.94972G>T (p.Val31658Leu)
n.446+13578C>A
n.317-147C>A
c.98992G>T (p.Val32998Leu)
c.72886G>T (p.Val24296Leu)
c.72745G>T (p.Val24249Leu)
c.98788G>T (p.Val32930Leu)
c.94186G>T (p.Val31396Leu)
c.94183G>T (p.Val31395Leu)
c.91225G>T (p.Val30409Leu)
c.72841G>T (p.Val24281Leu)
c.94336G>T (p.Val31446Leu)
c.94333G>T (p.Val31445Leu)
c.93766G>T (p.Val31256Leu)
c.91108G>T (p.Val30370Leu)
c.91027G>T (p.Val30343Leu)
c.72790G>T (p.Val24264Leu)
c.62644G>T (p.Val20882Leu)
2g.178537214C>GCA349427210TTN,TTN-AS1c.92191G>C (p.Val30731Leu)
c.73276G>C (p.Val24426Leu)
c.73075G>C (p.Val24359Leu)
c.72700G>C (p.Val24234Leu)
c.99895G>C (p.Val33299Leu)
c.94972G>C (p.Val31658Leu)
n.446+13578C>G
n.317-147C>G
c.98992G>C (p.Val32998Leu)
c.72886G>C (p.Val24296Leu)
c.72745G>C (p.Val24249Leu)
c.98788G>C (p.Val32930Leu)
c.94186G>C (p.Val31396Leu)
c.94183G>C (p.Val31395Leu)
c.91225G>C (p.Val30409Leu)
c.72841G>C (p.Val24281Leu)
c.94336G>C (p.Val31446Leu)
c.94333G>C (p.Val31445Leu)
c.93766G>C (p.Val31256Leu)
c.91108G>C (p.Val30370Leu)
c.91027G>C (p.Val30343Leu)
c.72790G>C (p.Val24264Leu)
c.62644G>C (p.Val20882Leu)
2g.178537214C>TCA349427211TTN,TTN-AS1c.92191G>A (p.Val30731Met)
c.73276G>A (p.Val24426Met)
c.73075G>A (p.Val24359Met)
c.72700G>A (p.Val24234Met)
c.99895G>A (p.Val33299Met)
c.94972G>A (p.Val31658Met)
n.446+13578C>T
n.317-147C>T
c.98992G>A (p.Val32998Met)
c.72886G>A (p.Val24296Met)
c.72745G>A (p.Val24249Met)
c.98788G>A (p.Val32930Met)
c.94186G>A (p.Val31396Met)
c.94183G>A (p.Val31395Met)
c.91225G>A (p.Val30409Met)
c.72841G>A (p.Val24281Met)
c.94336G>A (p.Val31446Met)
c.94333G>A (p.Val31445Met)
c.93766G>A (p.Val31256Met)
c.91108G>A (p.Val30370Met)
c.91027G>A (p.Val30343Met)
c.72790G>A (p.Val24264Met)
c.62644G>A (p.Val20882Met)
 gnomAD v4
2g.178537215A=CA1310515325TTN,TTN-AS1c.92190T= (p.Ile30730=)
c.73275T= (p.Ile24425=)
c.73074T= (p.Ile24358=)
c.72699T= (p.Ile24233=)
c.99894T= (p.Ile33298=)
c.94971T= (p.Ile31657=)
n.446+13579A=
n.317-146A=
c.98991T= (p.Ile32997=)
c.72885T= (p.Ile24295=)
c.72744T= (p.Ile24248=)
c.98787T= (p.Ile32929=)
c.94185T= (p.Ile31395=)
c.94182T= (p.Ile31394=)
c.91224T= (p.Ile30408=)
c.72840T= (p.Ile24280=)
c.94335T= (p.Ile31445=)
c.94332T= (p.Ile31444=)
c.93765T= (p.Ile31255=)
c.91107T= (p.Ile30369=)
c.91026T= (p.Ile30342=)
c.72789T= (p.Ile24263=)
c.62643T= (p.Ile20881=)
2g.178537215A>CCA349427212TTN,TTN-AS1c.92190T>G (p.Ile30730Met)
c.73275T>G (p.Ile24425Met)
c.73074T>G (p.Ile24358Met)
c.72699T>G (p.Ile24233Met)
c.99894T>G (p.Ile33298Met)
c.94971T>G (p.Ile31657Met)
n.446+13579A>C
n.317-146A>C
c.98991T>G (p.Ile32997Met)
c.72885T>G (p.Ile24295Met)
c.72744T>G (p.Ile24248Met)
c.98787T>G (p.Ile32929Met)
c.94185T>G (p.Ile31395Met)
c.94182T>G (p.Ile31394Met)
c.91224T>G (p.Ile30408Met)
c.72840T>G (p.Ile24280Met)
c.94335T>G (p.Ile31445Met)
c.94332T>G (p.Ile31444Met)
c.93765T>G (p.Ile31255Met)
c.91107T>G (p.Ile30369Met)
c.91026T>G (p.Ile30342Met)
c.72789T>G (p.Ile24263Met)
c.62643T>G (p.Ile20881Met)
 dbSNP gnomAD v4
2g.178537215A>GCA430238943TTN,TTN-AS1c.92190T>C (p.Ile30730=)
c.73275T>C (p.Ile24425=)
c.73074T>C (p.Ile24358=)
c.72699T>C (p.Ile24233=)
c.99894T>C (p.Ile33298=)
c.94971T>C (p.Ile31657=)
n.446+13579A>G
n.317-146A>G
c.98991T>C (p.Ile32997=)
c.72885T>C (p.Ile24295=)
c.72744T>C (p.Ile24248=)
c.98787T>C (p.Ile32929=)
c.94185T>C (p.Ile31395=)
c.94182T>C (p.Ile31394=)
c.91224T>C (p.Ile30408=)
c.72840T>C (p.Ile24280=)
c.94335T>C (p.Ile31445=)
c.94332T>C (p.Ile31444=)
c.93765T>C (p.Ile31255=)
c.91107T>C (p.Ile30369=)
c.91026T>C (p.Ile30342=)
c.72789T>C (p.Ile24263=)
c.62643T>C (p.Ile20881=)
2g.178537215A>TCA430238944TTN,TTN-AS1c.92190T>A (p.Ile30730=)
c.73275T>A (p.Ile24425=)
c.73074T>A (p.Ile24358=)
c.72699T>A (p.Ile24233=)
c.99894T>A (p.Ile33298=)
c.94971T>A (p.Ile31657=)
n.446+13579A>T
n.317-146A>T
c.98991T>A (p.Ile32997=)
c.72885T>A (p.Ile24295=)
c.72744T>A (p.Ile24248=)
c.98787T>A (p.Ile32929=)
c.94185T>A (p.Ile31395=)
c.94182T>A (p.Ile31394=)
c.91224T>A (p.Ile30408=)
c.72840T>A (p.Ile24280=)
c.94335T>A (p.Ile31445=)
c.94332T>A (p.Ile31444=)
c.93765T>A (p.Ile31255=)
c.91107T>A (p.Ile30369=)
c.91026T>A (p.Ile30342=)
c.72789T>A (p.Ile24263=)
c.62643T>A (p.Ile20881=)
 dbSNP
2g.178537216A=CA1310515326TTN,TTN-AS1c.92189T= (p.Ile30730=)
c.73274T= (p.Ile24425=)
c.73073T= (p.Ile24358=)
c.72698T= (p.Ile24233=)
c.99893T= (p.Ile33298=)
c.94970T= (p.Ile31657=)
n.446+13580A=
n.317-145A=
c.98990T= (p.Ile32997=)
c.72884T= (p.Ile24295=)
c.72743T= (p.Ile24248=)
c.98786T= (p.Ile32929=)
c.94184T= (p.Ile31395=)
c.94181T= (p.Ile31394=)
c.91223T= (p.Ile30408=)
c.72839T= (p.Ile24280=)
c.94334T= (p.Ile31445=)
c.94331T= (p.Ile31444=)
c.93764T= (p.Ile31255=)
c.91106T= (p.Ile30369=)
c.91025T= (p.Ile30342=)
c.72788T= (p.Ile24263=)
c.62642T= (p.Ile20881=)
2g.178537216A>CCA349427213TTN,TTN-AS1c.92189T>G (p.Ile30730Ser)
c.73274T>G (p.Ile24425Ser)
c.73073T>G (p.Ile24358Ser)
c.72698T>G (p.Ile24233Ser)
c.99893T>G (p.Ile33298Ser)
c.94970T>G (p.Ile31657Ser)
n.446+13580A>C
n.317-145A>C
c.98990T>G (p.Ile32997Ser)
c.72884T>G (p.Ile24295Ser)
c.72743T>G (p.Ile24248Ser)
c.98786T>G (p.Ile32929Ser)
c.94184T>G (p.Ile31395Ser)
c.94181T>G (p.Ile31394Ser)
c.91223T>G (p.Ile30408Ser)
c.72839T>G (p.Ile24280Ser)
c.94334T>G (p.Ile31445Ser)
c.94331T>G (p.Ile31444Ser)
c.93764T>G (p.Ile31255Ser)
c.91106T>G (p.Ile30369Ser)
c.91025T>G (p.Ile30342Ser)
c.72788T>G (p.Ile24263Ser)
c.62642T>G (p.Ile20881Ser)
2g.178537216A>GCA1986113TTN,TTN-AS1c.92189T>C (p.Ile30730Thr)
c.73274T>C (p.Ile24425Thr)
c.73073T>C (p.Ile24358Thr)
c.72698T>C (p.Ile24233Thr)
c.99893T>C (p.Ile33298Thr)
c.94970T>C (p.Ile31657Thr)
n.446+13580A>G
n.317-145A>G
c.98990T>C (p.Ile32997Thr)
c.72884T>C (p.Ile24295Thr)
c.72743T>C (p.Ile24248Thr)
c.98786T>C (p.Ile32929Thr)
c.94184T>C (p.Ile31395Thr)
c.94181T>C (p.Ile31394Thr)
c.91223T>C (p.Ile30408Thr)
c.72839T>C (p.Ile24280Thr)
c.94334T>C (p.Ile31445Thr)
c.94331T>C (p.Ile31444Thr)
c.93764T>C (p.Ile31255Thr)
c.91106T>C (p.Ile30369Thr)
c.91025T>C (p.Ile30342Thr)
c.72788T>C (p.Ile24263Thr)
c.62642T>C (p.Ile20881Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537216A>TCA349427214TTN,TTN-AS1c.92189T>A (p.Ile30730Asn)
c.73274T>A (p.Ile24425Asn)
c.73073T>A (p.Ile24358Asn)
c.72698T>A (p.Ile24233Asn)
c.99893T>A (p.Ile33298Asn)
c.94970T>A (p.Ile31657Asn)
n.446+13580A>T
n.317-145A>T
c.98990T>A (p.Ile32997Asn)
c.72884T>A (p.Ile24295Asn)
c.72743T>A (p.Ile24248Asn)
c.98786T>A (p.Ile32929Asn)
c.94184T>A (p.Ile31395Asn)
c.94181T>A (p.Ile31394Asn)
c.91223T>A (p.Ile30408Asn)
c.72839T>A (p.Ile24280Asn)
c.94334T>A (p.Ile31445Asn)
c.94331T>A (p.Ile31444Asn)
c.93764T>A (p.Ile31255Asn)
c.91106T>A (p.Ile30369Asn)
c.91025T>A (p.Ile30342Asn)
c.72788T>A (p.Ile24263Asn)
c.62642T>A (p.Ile20881Asn)
2g.178537217T>ACA349427215TTN,TTN-AS1c.92188A>T (p.Ile30730Phe)
c.73273A>T (p.Ile24425Phe)
c.73072A>T (p.Ile24358Phe)
c.72697A>T (p.Ile24233Phe)
c.99892A>T (p.Ile33298Phe)
c.94969A>T (p.Ile31657Phe)
n.446+13581T>A
n.317-144T>A
c.98989A>T (p.Ile32997Phe)
c.72883A>T (p.Ile24295Phe)
c.72742A>T (p.Ile24248Phe)
c.98785A>T (p.Ile32929Phe)
c.94183A>T (p.Ile31395Phe)
c.94180A>T (p.Ile31394Phe)
c.91222A>T (p.Ile30408Phe)
c.72838A>T (p.Ile24280Phe)
c.94333A>T (p.Ile31445Phe)
c.94330A>T (p.Ile31444Phe)
c.93763A>T (p.Ile31255Phe)
c.91105A>T (p.Ile30369Phe)
c.91024A>T (p.Ile30342Phe)
c.72787A>T (p.Ile24263Phe)
c.62641A>T (p.Ile20881Phe)
2g.178537217T>CCA60961345TTN,TTN-AS1c.92188A>G (p.Ile30730Val)
c.73273A>G (p.Ile24425Val)
c.73072A>G (p.Ile24358Val)
c.72697A>G (p.Ile24233Val)
c.99892A>G (p.Ile33298Val)
c.94969A>G (p.Ile31657Val)
n.446+13581T>C
n.317-144T>C
c.98989A>G (p.Ile32997Val)
c.72883A>G (p.Ile24295Val)
c.72742A>G (p.Ile24248Val)
c.98785A>G (p.Ile32929Val)
c.94183A>G (p.Ile31395Val)
c.94180A>G (p.Ile31394Val)
c.91222A>G (p.Ile30408Val)
c.72838A>G (p.Ile24280Val)
c.94333A>G (p.Ile31445Val)
c.94330A>G (p.Ile31444Val)
c.93763A>G (p.Ile31255Val)
c.91105A>G (p.Ile30369Val)
c.91024A>G (p.Ile30342Val)
c.72787A>G (p.Ile24263Val)
c.62641A>G (p.Ile20881Val)
 dbSNP gnomAD v4
2g.178537217T>GCA349427216TTN,TTN-AS1c.92188A>C (p.Ile30730Leu)
c.73273A>C (p.Ile24425Leu)
c.73072A>C (p.Ile24358Leu)
c.72697A>C (p.Ile24233Leu)
c.99892A>C (p.Ile33298Leu)
c.94969A>C (p.Ile31657Leu)
n.446+13581T>G
n.317-144T>G
c.98989A>C (p.Ile32997Leu)
c.72883A>C (p.Ile24295Leu)
c.72742A>C (p.Ile24248Leu)
c.98785A>C (p.Ile32929Leu)
c.94183A>C (p.Ile31395Leu)
c.94180A>C (p.Ile31394Leu)
c.91222A>C (p.Ile30408Leu)
c.72838A>C (p.Ile24280Leu)
c.94333A>C (p.Ile31445Leu)
c.94330A>C (p.Ile31444Leu)
c.93763A>C (p.Ile31255Leu)
c.91105A>C (p.Ile30369Leu)
c.91024A>C (p.Ile30342Leu)
c.72787A>C (p.Ile24263Leu)
c.62641A>C (p.Ile20881Leu)
2g.178537217T=CA1310515329TTN,TTN-AS1c.92188A= (p.Ile30730=)
c.73273A= (p.Ile24425=)
c.73072A= (p.Ile24358=)
c.72697A= (p.Ile24233=)
c.99892A= (p.Ile33298=)
c.94969A= (p.Ile31657=)
n.446+13581T=
n.317-144T=
c.98989A= (p.Ile32997=)
c.72883A= (p.Ile24295=)
c.72742A= (p.Ile24248=)
c.98785A= (p.Ile32929=)
c.94183A= (p.Ile31395=)
c.94180A= (p.Ile31394=)
c.91222A= (p.Ile30408=)
c.72838A= (p.Ile24280=)
c.94333A= (p.Ile31445=)
c.94330A= (p.Ile31444=)
c.93763A= (p.Ile31255=)
c.91105A= (p.Ile30369=)
c.91024A= (p.Ile30342=)
c.72787A= (p.Ile24263=)
c.62641A= (p.Ile20881=)
2g.178537218T>ACA430238951TTN,TTN-AS1c.92187A>T (p.Pro30729=)
c.73272A>T (p.Pro24424=)
c.73071A>T (p.Pro24357=)
c.72696A>T (p.Pro24232=)
c.99891A>T (p.Pro33297=)
c.94968A>T (p.Pro31656=)
n.446+13582T>A
n.317-143T>A
c.98988A>T (p.Pro32996=)
c.72882A>T (p.Pro24294=)
c.72741A>T (p.Pro24247=)
c.98784A>T (p.Pro32928=)
c.94182A>T (p.Pro31394=)
c.94179A>T (p.Pro31393=)
c.91221A>T (p.Pro30407=)
c.72837A>T (p.Pro24279=)
c.94332A>T (p.Pro31444=)
c.94329A>T (p.Pro31443=)
c.93762A>T (p.Pro31254=)
c.91104A>T (p.Pro30368=)
c.91023A>T (p.Pro30341=)
c.72786A>T (p.Pro24262=)
c.62640A>T (p.Pro20880=)
2g.178537218T>CCA430238953TTN,TTN-AS1c.92187A>G (p.Pro30729=)
c.73272A>G (p.Pro24424=)
c.73071A>G (p.Pro24357=)
c.72696A>G (p.Pro24232=)
c.99891A>G (p.Pro33297=)
c.94968A>G (p.Pro31656=)
n.446+13582T>C
n.317-143T>C
c.98988A>G (p.Pro32996=)
c.72882A>G (p.Pro24294=)
c.72741A>G (p.Pro24247=)
c.98784A>G (p.Pro32928=)
c.94182A>G (p.Pro31394=)
c.94179A>G (p.Pro31393=)
c.91221A>G (p.Pro30407=)
c.72837A>G (p.Pro24279=)
c.94332A>G (p.Pro31444=)
c.94329A>G (p.Pro31443=)
c.93762A>G (p.Pro31254=)
c.91104A>G (p.Pro30368=)
c.91023A>G (p.Pro30341=)
c.72786A>G (p.Pro24262=)
c.62640A>G (p.Pro20880=)
2g.178537218T>GCA430238952TTN,TTN-AS1c.92187A>C (p.Pro30729=)
c.73272A>C (p.Pro24424=)
c.73071A>C (p.Pro24357=)
c.72696A>C (p.Pro24232=)
c.99891A>C (p.Pro33297=)
c.94968A>C (p.Pro31656=)
n.446+13582T>G
n.317-143T>G
c.98988A>C (p.Pro32996=)
c.72882A>C (p.Pro24294=)
c.72741A>C (p.Pro24247=)
c.98784A>C (p.Pro32928=)
c.94182A>C (p.Pro31394=)
c.94179A>C (p.Pro31393=)
c.91221A>C (p.Pro30407=)
c.72837A>C (p.Pro24279=)
c.94332A>C (p.Pro31444=)
c.94329A>C (p.Pro31443=)
c.93762A>C (p.Pro31254=)
c.91104A>C (p.Pro30368=)
c.91023A>C (p.Pro30341=)
c.72786A>C (p.Pro24262=)
c.62640A>C (p.Pro20880=)
2g.178537219G>ACA1986114TTN,TTN-AS1c.92186C>T (p.Pro30729Leu)
c.73271C>T (p.Pro24424Leu)
c.73070C>T (p.Pro24357Leu)
c.72695C>T (p.Pro24232Leu)
c.99890C>T (p.Pro33297Leu)
c.94967C>T (p.Pro31656Leu)
n.446+13583G>A
n.317-142G>A
c.98987C>T (p.Pro32996Leu)
c.72881C>T (p.Pro24294Leu)
c.72740C>T (p.Pro24247Leu)
c.98783C>T (p.Pro32928Leu)
c.94181C>T (p.Pro31394Leu)
c.94178C>T (p.Pro31393Leu)
c.91220C>T (p.Pro30407Leu)
c.72836C>T (p.Pro24279Leu)
c.94331C>T (p.Pro31444Leu)
c.94328C>T (p.Pro31443Leu)
c.93761C>T (p.Pro31254Leu)
c.91103C>T (p.Pro30368Leu)
c.91022C>T (p.Pro30341Leu)
c.72785C>T (p.Pro24262Leu)
c.62639C>T (p.Pro20880Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537219G>CCA349427217TTN,TTN-AS1c.92186C>G (p.Pro30729Arg)
c.73271C>G (p.Pro24424Arg)
c.73070C>G (p.Pro24357Arg)
c.72695C>G (p.Pro24232Arg)
c.99890C>G (p.Pro33297Arg)
c.94967C>G (p.Pro31656Arg)
n.446+13583G>C
n.317-142G>C
c.98987C>G (p.Pro32996Arg)
c.72881C>G (p.Pro24294Arg)
c.72740C>G (p.Pro24247Arg)
c.98783C>G (p.Pro32928Arg)
c.94181C>G (p.Pro31394Arg)
c.94178C>G (p.Pro31393Arg)
c.91220C>G (p.Pro30407Arg)
c.72836C>G (p.Pro24279Arg)
c.94331C>G (p.Pro31444Arg)
c.94328C>G (p.Pro31443Arg)
c.93761C>G (p.Pro31254Arg)
c.91103C>G (p.Pro30368Arg)
c.91022C>G (p.Pro30341Arg)
c.72785C>G (p.Pro24262Arg)
c.62639C>G (p.Pro20880Arg)
2g.178537219G=CA1310515330TTN,TTN-AS1c.92186C= (p.Pro30729=)
c.73271C= (p.Pro24424=)
c.73070C= (p.Pro24357=)
c.72695C= (p.Pro24232=)
c.99890C= (p.Pro33297=)
c.94967C= (p.Pro31656=)
n.446+13583G=
n.317-142G=
c.98987C= (p.Pro32996=)
c.72881C= (p.Pro24294=)
c.72740C= (p.Pro24247=)
c.98783C= (p.Pro32928=)
c.94181C= (p.Pro31394=)
c.94178C= (p.Pro31393=)
c.91220C= (p.Pro30407=)
c.72836C= (p.Pro24279=)
c.94331C= (p.Pro31444=)
c.94328C= (p.Pro31443=)
c.93761C= (p.Pro31254=)
c.91103C= (p.Pro30368=)
c.91022C= (p.Pro30341=)
c.72785C= (p.Pro24262=)
c.62639C= (p.Pro20880=)
2g.178537219G>TCA349427218TTN,TTN-AS1c.92186C>A (p.Pro30729Gln)
c.73271C>A (p.Pro24424Gln)
c.73070C>A (p.Pro24357Gln)
c.72695C>A (p.Pro24232Gln)
c.99890C>A (p.Pro33297Gln)
c.94967C>A (p.Pro31656Gln)
n.446+13583G>T
n.317-142G>T
c.98987C>A (p.Pro32996Gln)
c.72881C>A (p.Pro24294Gln)
c.72740C>A (p.Pro24247Gln)
c.98783C>A (p.Pro32928Gln)
c.94181C>A (p.Pro31394Gln)
c.94178C>A (p.Pro31393Gln)
c.91220C>A (p.Pro30407Gln)
c.72836C>A (p.Pro24279Gln)
c.94331C>A (p.Pro31444Gln)
c.94328C>A (p.Pro31443Gln)
c.93761C>A (p.Pro31254Gln)
c.91103C>A (p.Pro30368Gln)
c.91022C>A (p.Pro30341Gln)
c.72785C>A (p.Pro24262Gln)
c.62639C>A (p.Pro20880Gln)
2g.178537220G>ACA349427221TTN,TTN-AS1c.92185C>T (p.Pro30729Ser)
c.73270C>T (p.Pro24424Ser)
c.73069C>T (p.Pro24357Ser)
c.72694C>T (p.Pro24232Ser)
c.99889C>T (p.Pro33297Ser)
c.94966C>T (p.Pro31656Ser)
n.446+13584G>A
n.317-141G>A
c.98986C>T (p.Pro32996Ser)
c.72880C>T (p.Pro24294Ser)
c.72739C>T (p.Pro24247Ser)
c.98782C>T (p.Pro32928Ser)
c.94180C>T (p.Pro31394Ser)
c.94177C>T (p.Pro31393Ser)
c.91219C>T (p.Pro30407Ser)
c.72835C>T (p.Pro24279Ser)
c.94330C>T (p.Pro31444Ser)
c.94327C>T (p.Pro31443Ser)
c.93760C>T (p.Pro31254Ser)
c.91102C>T (p.Pro30368Ser)
c.91021C>T (p.Pro30341Ser)
c.72784C>T (p.Pro24262Ser)
c.62638C>T (p.Pro20880Ser)
 dbSNP
2g.178537220G>CCA349427219TTN,TTN-AS1c.92185C>G (p.Pro30729Ala)
c.73270C>G (p.Pro24424Ala)
c.73069C>G (p.Pro24357Ala)
c.72694C>G (p.Pro24232Ala)
c.99889C>G (p.Pro33297Ala)
c.94966C>G (p.Pro31656Ala)
n.446+13584G>C
n.317-141G>C
c.98986C>G (p.Pro32996Ala)
c.72880C>G (p.Pro24294Ala)
c.72739C>G (p.Pro24247Ala)
c.98782C>G (p.Pro32928Ala)
c.94180C>G (p.Pro31394Ala)
c.94177C>G (p.Pro31393Ala)
c.91219C>G (p.Pro30407Ala)
c.72835C>G (p.Pro24279Ala)
c.94330C>G (p.Pro31444Ala)
c.94327C>G (p.Pro31443Ala)
c.93760C>G (p.Pro31254Ala)
c.91102C>G (p.Pro30368Ala)
c.91021C>G (p.Pro30341Ala)
c.72784C>G (p.Pro24262Ala)
c.62638C>G (p.Pro20880Ala)
2g.178537220G=CA1310515331TTN,TTN-AS1c.92185C= (p.Pro30729=)
c.73270C= (p.Pro24424=)
c.73069C= (p.Pro24357=)
c.72694C= (p.Pro24232=)
c.99889C= (p.Pro33297=)
c.94966C= (p.Pro31656=)
n.446+13584G=
n.317-141G=
c.98986C= (p.Pro32996=)
c.72880C= (p.Pro24294=)
c.72739C= (p.Pro24247=)
c.98782C= (p.Pro32928=)
c.94180C= (p.Pro31394=)
c.94177C= (p.Pro31393=)
c.91219C= (p.Pro30407=)
c.72835C= (p.Pro24279=)
c.94330C= (p.Pro31444=)
c.94327C= (p.Pro31443=)
c.93760C= (p.Pro31254=)
c.91102C= (p.Pro30368=)
c.91021C= (p.Pro30341=)
c.72784C= (p.Pro24262=)
c.62638C= (p.Pro20880=)
2g.178537220G>TCA349427220TTN,TTN-AS1c.92185C>A (p.Pro30729Thr)
c.73270C>A (p.Pro24424Thr)
c.73069C>A (p.Pro24357Thr)
c.72694C>A (p.Pro24232Thr)
c.99889C>A (p.Pro33297Thr)
c.94966C>A (p.Pro31656Thr)
n.446+13584G>T
n.317-141G>T
c.98986C>A (p.Pro32996Thr)
c.72880C>A (p.Pro24294Thr)
c.72739C>A (p.Pro24247Thr)
c.98782C>A (p.Pro32928Thr)
c.94180C>A (p.Pro31394Thr)
c.94177C>A (p.Pro31393Thr)
c.91219C>A (p.Pro30407Thr)
c.72835C>A (p.Pro24279Thr)
c.94330C>A (p.Pro31444Thr)
c.94327C>A (p.Pro31443Thr)
c.93760C>A (p.Pro31254Thr)
c.91102C>A (p.Pro30368Thr)
c.91021C>A (p.Pro30341Thr)
c.72784C>A (p.Pro24262Thr)
c.62638C>A (p.Pro20880Thr)
2g.178537221T>ACA430238958TTN,TTN-AS1c.92184A>T (p.Gly30728=)
c.73269A>T (p.Gly24423=)
c.73068A>T (p.Gly24356=)
c.72693A>T (p.Gly24231=)
c.99888A>T (p.Gly33296=)
c.94965A>T (p.Gly31655=)
n.446+13585T>A
n.317-140T>A
c.98985A>T (p.Gly32995=)
c.72879A>T (p.Gly24293=)
c.72738A>T (p.Gly24246=)
c.98781A>T (p.Gly32927=)
c.94179A>T (p.Gly31393=)
c.94176A>T (p.Gly31392=)
c.91218A>T (p.Gly30406=)
c.72834A>T (p.Gly24278=)
c.94329A>T (p.Gly31443=)
c.94326A>T (p.Gly31442=)
c.93759A>T (p.Gly31253=)
c.91101A>T (p.Gly30367=)
c.91020A>T (p.Gly30340=)
c.72783A>T (p.Gly24261=)
c.62637A>T (p.Gly20879=)
2g.178537221T>CCA430238961TTN,TTN-AS1c.92184A>G (p.Gly30728=)
c.73269A>G (p.Gly24423=)
c.73068A>G (p.Gly24356=)
c.72693A>G (p.Gly24231=)
c.99888A>G (p.Gly33296=)
c.94965A>G (p.Gly31655=)
n.446+13585T>C
n.317-140T>C
c.98985A>G (p.Gly32995=)
c.72879A>G (p.Gly24293=)
c.72738A>G (p.Gly24246=)
c.98781A>G (p.Gly32927=)
c.94179A>G (p.Gly31393=)
c.94176A>G (p.Gly31392=)
c.91218A>G (p.Gly30406=)
c.72834A>G (p.Gly24278=)
c.94329A>G (p.Gly31443=)
c.94326A>G (p.Gly31442=)
c.93759A>G (p.Gly31253=)
c.91101A>G (p.Gly30367=)
c.91020A>G (p.Gly30340=)
c.72783A>G (p.Gly24261=)
c.62637A>G (p.Gly20879=)
2g.178537221T>GCA430238962TTN,TTN-AS1c.92184A>C (p.Gly30728=)
c.73269A>C (p.Gly24423=)
c.73068A>C (p.Gly24356=)
c.72693A>C (p.Gly24231=)
c.99888A>C (p.Gly33296=)
c.94965A>C (p.Gly31655=)
n.446+13585T>G
n.317-140T>G
c.98985A>C (p.Gly32995=)
c.72879A>C (p.Gly24293=)
c.72738A>C (p.Gly24246=)
c.98781A>C (p.Gly32927=)
c.94179A>C (p.Gly31393=)
c.94176A>C (p.Gly31392=)
c.91218A>C (p.Gly30406=)
c.72834A>C (p.Gly24278=)
c.94329A>C (p.Gly31443=)
c.94326A>C (p.Gly31442=)
c.93759A>C (p.Gly31253=)
c.91101A>C (p.Gly30367=)
c.91020A>C (p.Gly30340=)
c.72783A>C (p.Gly24261=)
c.62637A>C (p.Gly20879=)
2g.178537222C>ACA349427222TTN,TTN-AS1c.92183G>T (p.Gly30728Val)
c.73268G>T (p.Gly24423Val)
c.73067G>T (p.Gly24356Val)
c.72692G>T (p.Gly24231Val)
c.99887G>T (p.Gly33296Val)
c.94964G>T (p.Gly31655Val)
n.446+13586C>A
n.317-139C>A
c.98984G>T (p.Gly32995Val)
c.72878G>T (p.Gly24293Val)
c.72737G>T (p.Gly24246Val)
c.98780G>T (p.Gly32927Val)
c.94178G>T (p.Gly31393Val)
c.94175G>T (p.Gly31392Val)
c.91217G>T (p.Gly30406Val)
c.72833G>T (p.Gly24278Val)
c.94328G>T (p.Gly31443Val)
c.94325G>T (p.Gly31442Val)
c.93758G>T (p.Gly31253Val)
c.91100G>T (p.Gly30367Val)
c.91019G>T (p.Gly30340Val)
c.72782G>T (p.Gly24261Val)
c.62636G>T (p.Gly20879Val)
2g.178537222C=CA1310515333TTN,TTN-AS1c.92183G= (p.Gly30728=)
c.73268G= (p.Gly24423=)
c.73067G= (p.Gly24356=)
c.72692G= (p.Gly24231=)
c.99887G= (p.Gly33296=)
c.94964G= (p.Gly31655=)
n.446+13586C=
n.317-139C=
c.98984G= (p.Gly32995=)
c.72878G= (p.Gly24293=)
c.72737G= (p.Gly24246=)
c.98780G= (p.Gly32927=)
c.94178G= (p.Gly31393=)
c.94175G= (p.Gly31392=)
c.91217G= (p.Gly30406=)
c.72833G= (p.Gly24278=)
c.94328G= (p.Gly31443=)
c.94325G= (p.Gly31442=)
c.93758G= (p.Gly31253=)
c.91100G= (p.Gly30367=)
c.91019G= (p.Gly30340=)
c.72782G= (p.Gly24261=)
c.62636G= (p.Gly20879=)
2g.178537222C>GCA349427223TTN,TTN-AS1c.92183G>C (p.Gly30728Ala)
c.73268G>C (p.Gly24423Ala)
c.73067G>C (p.Gly24356Ala)
c.72692G>C (p.Gly24231Ala)
c.99887G>C (p.Gly33296Ala)
c.94964G>C (p.Gly31655Ala)
n.446+13586C>G
n.317-139C>G
c.98984G>C (p.Gly32995Ala)
c.72878G>C (p.Gly24293Ala)
c.72737G>C (p.Gly24246Ala)
c.98780G>C (p.Gly32927Ala)
c.94178G>C (p.Gly31393Ala)
c.94175G>C (p.Gly31392Ala)
c.91217G>C (p.Gly30406Ala)
c.72833G>C (p.Gly24278Ala)
c.94328G>C (p.Gly31443Ala)
c.94325G>C (p.Gly31442Ala)
c.93758G>C (p.Gly31253Ala)
c.91100G>C (p.Gly30367Ala)
c.91019G>C (p.Gly30340Ala)
c.72782G>C (p.Gly24261Ala)
c.62636G>C (p.Gly20879Ala)
2g.178537222C>TCA60961373TTN,TTN-AS1c.92183G>A (p.Gly30728Glu)
c.73268G>A (p.Gly24423Glu)
c.73067G>A (p.Gly24356Glu)
c.72692G>A (p.Gly24231Glu)
c.99887G>A (p.Gly33296Glu)
c.94964G>A (p.Gly31655Glu)
n.446+13586C>T
n.317-139C>T
c.98984G>A (p.Gly32995Glu)
c.72878G>A (p.Gly24293Glu)
c.72737G>A (p.Gly24246Glu)
c.98780G>A (p.Gly32927Glu)
c.94178G>A (p.Gly31393Glu)
c.94175G>A (p.Gly31392Glu)
c.91217G>A (p.Gly30406Glu)
c.72833G>A (p.Gly24278Glu)
c.94328G>A (p.Gly31443Glu)
c.94325G>A (p.Gly31442Glu)
c.93758G>A (p.Gly31253Glu)
c.91100G>A (p.Gly30367Glu)
c.91019G>A (p.Gly30340Glu)
c.72782G>A (p.Gly24261Glu)
c.62636G>A (p.Gly20879Glu)
 dbSNP gnomAD v4
2g.178537223C>ACA1986115TTN,TTN-AS1c.92182G>T (p.Gly30728Ter)
c.73267G>T (p.Gly24423Ter)
c.73066G>T (p.Gly24356Ter)
c.72691G>T (p.Gly24231Ter)
c.99886G>T (p.Gly33296Ter)
c.94963G>T (p.Gly31655Ter)
n.446+13587C>A
n.317-138C>A
c.98983G>T (p.Gly32995Ter)
c.72877G>T (p.Gly24293Ter)
c.72736G>T (p.Gly24246Ter)
c.98779G>T (p.Gly32927Ter)
c.94177G>T (p.Gly31393Ter)
c.94174G>T (p.Gly31392Ter)
c.91216G>T (p.Gly30406Ter)
c.72832G>T (p.Gly24278Ter)
c.94327G>T (p.Gly31443Ter)
c.94324G>T (p.Gly31442Ter)
c.93757G>T (p.Gly31253Ter)
c.91099G>T (p.Gly30367Ter)
c.91018G>T (p.Gly30340Ter)
c.72781G>T (p.Gly24261Ter)
c.62635G>T (p.Gly20879Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537223C=CA1310515334TTN,TTN-AS1c.92182G= (p.Gly30728=)
c.73267G= (p.Gly24423=)
c.73066G= (p.Gly24356=)
c.72691G= (p.Gly24231=)
c.99886G= (p.Gly33296=)
c.94963G= (p.Gly31655=)
n.446+13587C=
n.317-138C=
c.98983G= (p.Gly32995=)
c.72877G= (p.Gly24293=)
c.72736G= (p.Gly24246=)
c.98779G= (p.Gly32927=)
c.94177G= (p.Gly31393=)
c.94174G= (p.Gly31392=)
c.91216G= (p.Gly30406=)
c.72832G= (p.Gly24278=)
c.94327G= (p.Gly31443=)
c.94324G= (p.Gly31442=)
c.93757G= (p.Gly31253=)
c.91099G= (p.Gly30367=)
c.91018G= (p.Gly30340=)
c.72781G= (p.Gly24261=)
c.62635G= (p.Gly20879=)
2g.178537223C>GCA349427224TTN,TTN-AS1c.92182G>C (p.Gly30728Arg)
c.73267G>C (p.Gly24423Arg)
c.73066G>C (p.Gly24356Arg)
c.72691G>C (p.Gly24231Arg)
c.99886G>C (p.Gly33296Arg)
c.94963G>C (p.Gly31655Arg)
n.446+13587C>G
n.317-138C>G
c.98983G>C (p.Gly32995Arg)
c.72877G>C (p.Gly24293Arg)
c.72736G>C (p.Gly24246Arg)
c.98779G>C (p.Gly32927Arg)
c.94177G>C (p.Gly31393Arg)
c.94174G>C (p.Gly31392Arg)
c.91216G>C (p.Gly30406Arg)
c.72832G>C (p.Gly24278Arg)
c.94327G>C (p.Gly31443Arg)
c.94324G>C (p.Gly31442Arg)
c.93757G>C (p.Gly31253Arg)
c.91099G>C (p.Gly30367Arg)
c.91018G>C (p.Gly30340Arg)
c.72781G>C (p.Gly24261Arg)
c.62635G>C (p.Gly20879Arg)
2g.178537223C>TCA349427225TTN,TTN-AS1c.92182G>A (p.Gly30728Arg)
c.73267G>A (p.Gly24423Arg)
c.73066G>A (p.Gly24356Arg)
c.72691G>A (p.Gly24231Arg)
c.99886G>A (p.Gly33296Arg)
c.94963G>A (p.Gly31655Arg)
n.446+13587C>T
n.317-138C>T
c.98983G>A (p.Gly32995Arg)
c.72877G>A (p.Gly24293Arg)
c.72736G>A (p.Gly24246Arg)
c.98779G>A (p.Gly32927Arg)
c.94177G>A (p.Gly31393Arg)
c.94174G>A (p.Gly31392Arg)
c.91216G>A (p.Gly30406Arg)
c.72832G>A (p.Gly24278Arg)
c.94327G>A (p.Gly31443Arg)
c.94324G>A (p.Gly31442Arg)
c.93757G>A (p.Gly31253Arg)
c.91099G>A (p.Gly30367Arg)
c.91018G>A (p.Gly30340Arg)
c.72781G>A (p.Gly24261Arg)
c.62635G>A (p.Gly20879Arg)
 dbSNP gnomAD v4
2g.178537224T>ACA430238968TTN,TTN-AS1c.92181A>T (p.Thr30727=)
c.73266A>T (p.Thr24422=)
c.73065A>T (p.Thr24355=)
c.72690A>T (p.Thr24230=)
c.99885A>T (p.Thr33295=)
c.94962A>T (p.Thr31654=)
n.446+13588T>A
n.317-137T>A
c.98982A>T (p.Thr32994=)
c.72876A>T (p.Thr24292=)
c.72735A>T (p.Thr24245=)
c.98778A>T (p.Thr32926=)
c.94176A>T (p.Thr31392=)
c.94173A>T (p.Thr31391=)
c.91215A>T (p.Thr30405=)
c.72831A>T (p.Thr24277=)
c.94326A>T (p.Thr31442=)
c.94323A>T (p.Thr31441=)
c.93756A>T (p.Thr31252=)
c.91098A>T (p.Thr30366=)
c.91017A>T (p.Thr30339=)
c.72780A>T (p.Thr24260=)
c.62634A>T (p.Thr20878=)
2g.178537224T>CCA430238970TTN,TTN-AS1c.92181A>G (p.Thr30727=)
c.73266A>G (p.Thr24422=)
c.73065A>G (p.Thr24355=)
c.72690A>G (p.Thr24230=)
c.99885A>G (p.Thr33295=)
c.94962A>G (p.Thr31654=)
n.446+13588T>C
n.317-137T>C
c.98982A>G (p.Thr32994=)
c.72876A>G (p.Thr24292=)
c.72735A>G (p.Thr24245=)
c.98778A>G (p.Thr32926=)
c.94176A>G (p.Thr31392=)
c.94173A>G (p.Thr31391=)
c.91215A>G (p.Thr30405=)
c.72831A>G (p.Thr24277=)
c.94326A>G (p.Thr31442=)
c.94323A>G (p.Thr31441=)
c.93756A>G (p.Thr31252=)
c.91098A>G (p.Thr30366=)
c.91017A>G (p.Thr30339=)
c.72780A>G (p.Thr24260=)
c.62634A>G (p.Thr20878=)
 ClinVar
2g.178537224T>GCA430238971TTN,TTN-AS1c.92181A>C (p.Thr30727=)
c.73266A>C (p.Thr24422=)
c.73065A>C (p.Thr24355=)
c.72690A>C (p.Thr24230=)
c.99885A>C (p.Thr33295=)
c.94962A>C (p.Thr31654=)
n.446+13588T>G
n.317-137T>G
c.98982A>C (p.Thr32994=)
c.72876A>C (p.Thr24292=)
c.72735A>C (p.Thr24245=)
c.98778A>C (p.Thr32926=)
c.94176A>C (p.Thr31392=)
c.94173A>C (p.Thr31391=)
c.91215A>C (p.Thr30405=)
c.72831A>C (p.Thr24277=)
c.94326A>C (p.Thr31442=)
c.94323A>C (p.Thr31441=)
c.93756A>C (p.Thr31252=)
c.91098A>C (p.Thr30366=)
c.91017A>C (p.Thr30339=)
c.72780A>C (p.Thr24260=)
c.62634A>C (p.Thr20878=)
2g.178537225G>ACA349427228TTN,TTN-AS1c.92180C>T (p.Thr30727Ile)
c.73265C>T (p.Thr24422Ile)
c.73064C>T (p.Thr24355Ile)
c.72689C>T (p.Thr24230Ile)
c.99884C>T (p.Thr33295Ile)
c.94961C>T (p.Thr31654Ile)
n.446+13589G>A
n.317-136G>A
c.98981C>T (p.Thr32994Ile)
c.72875C>T (p.Thr24292Ile)
c.72734C>T (p.Thr24245Ile)
c.98777C>T (p.Thr32926Ile)
c.94175C>T (p.Thr31392Ile)
c.94172C>T (p.Thr31391Ile)
c.91214C>T (p.Thr30405Ile)
c.72830C>T (p.Thr24277Ile)
c.94325C>T (p.Thr31442Ile)
c.94322C>T (p.Thr31441Ile)
c.93755C>T (p.Thr31252Ile)
c.91097C>T (p.Thr30366Ile)
c.91016C>T (p.Thr30339Ile)
c.72779C>T (p.Thr24260Ile)
c.62633C>T (p.Thr20878Ile)
 dbSNP
2g.178537225G>CCA349427227TTN,TTN-AS1c.92180C>G (p.Thr30727Arg)
c.73265C>G (p.Thr24422Arg)
c.73064C>G (p.Thr24355Arg)
c.72689C>G (p.Thr24230Arg)
c.99884C>G (p.Thr33295Arg)
c.94961C>G (p.Thr31654Arg)
n.446+13589G>C
n.317-136G>C
c.98981C>G (p.Thr32994Arg)
c.72875C>G (p.Thr24292Arg)
c.72734C>G (p.Thr24245Arg)
c.98777C>G (p.Thr32926Arg)
c.94175C>G (p.Thr31392Arg)
c.94172C>G (p.Thr31391Arg)
c.91214C>G (p.Thr30405Arg)
c.72830C>G (p.Thr24277Arg)
c.94325C>G (p.Thr31442Arg)
c.94322C>G (p.Thr31441Arg)
c.93755C>G (p.Thr31252Arg)
c.91097C>G (p.Thr30366Arg)
c.91016C>G (p.Thr30339Arg)
c.72779C>G (p.Thr24260Arg)
c.62633C>G (p.Thr20878Arg)
2g.178537225G>TCA349427226TTN,TTN-AS1c.92180C>A (p.Thr30727Lys)
c.73265C>A (p.Thr24422Lys)
c.73064C>A (p.Thr24355Lys)
c.72689C>A (p.Thr24230Lys)
c.99884C>A (p.Thr33295Lys)
c.94961C>A (p.Thr31654Lys)
n.446+13589G>T
n.317-136G>T
c.98981C>A (p.Thr32994Lys)
c.72875C>A (p.Thr24292Lys)
c.72734C>A (p.Thr24245Lys)
c.98777C>A (p.Thr32926Lys)
c.94175C>A (p.Thr31392Lys)
c.94172C>A (p.Thr31391Lys)
c.91214C>A (p.Thr30405Lys)
c.72830C>A (p.Thr24277Lys)
c.94325C>A (p.Thr31442Lys)
c.94322C>A (p.Thr31441Lys)
c.93755C>A (p.Thr31252Lys)
c.91097C>A (p.Thr30366Lys)
c.91016C>A (p.Thr30339Lys)
c.72779C>A (p.Thr24260Lys)
c.62633C>A (p.Thr20878Lys)
2g.178537226T>ACA349427229TTN,TTN-AS1c.92179A>T (p.Thr30727Ser)
c.73264A>T (p.Thr24422Ser)
c.73063A>T (p.Thr24355Ser)
c.72688A>T (p.Thr24230Ser)
c.99883A>T (p.Thr33295Ser)
c.94960A>T (p.Thr31654Ser)
n.446+13590T>A
n.317-135T>A
c.98980A>T (p.Thr32994Ser)
c.72874A>T (p.Thr24292Ser)
c.72733A>T (p.Thr24245Ser)
c.98776A>T (p.Thr32926Ser)
c.94174A>T (p.Thr31392Ser)
c.94171A>T (p.Thr31391Ser)
c.91213A>T (p.Thr30405Ser)
c.72829A>T (p.Thr24277Ser)
c.94324A>T (p.Thr31442Ser)
c.94321A>T (p.Thr31441Ser)
c.93754A>T (p.Thr31252Ser)
c.91096A>T (p.Thr30366Ser)
c.91015A>T (p.Thr30339Ser)
c.72778A>T (p.Thr24260Ser)
c.62632A>T (p.Thr20878Ser)
2g.178537226T>CCA349427230TTN,TTN-AS1c.92179A>G (p.Thr30727Ala)
c.73264A>G (p.Thr24422Ala)
c.73063A>G (p.Thr24355Ala)
c.72688A>G (p.Thr24230Ala)
c.99883A>G (p.Thr33295Ala)
c.94960A>G (p.Thr31654Ala)
n.446+13590T>C
n.317-135T>C
c.98980A>G (p.Thr32994Ala)
c.72874A>G (p.Thr24292Ala)
c.72733A>G (p.Thr24245Ala)
c.98776A>G (p.Thr32926Ala)
c.94174A>G (p.Thr31392Ala)
c.94171A>G (p.Thr31391Ala)
c.91213A>G (p.Thr30405Ala)
c.72829A>G (p.Thr24277Ala)
c.94324A>G (p.Thr31442Ala)
c.94321A>G (p.Thr31441Ala)
c.93754A>G (p.Thr31252Ala)
c.91096A>G (p.Thr30366Ala)
c.91015A>G (p.Thr30339Ala)
c.72778A>G (p.Thr24260Ala)
c.62632A>G (p.Thr20878Ala)
2g.178537226T>GCA349427231TTN,TTN-AS1c.92179A>C (p.Thr30727Pro)
c.73264A>C (p.Thr24422Pro)
c.73063A>C (p.Thr24355Pro)
c.72688A>C (p.Thr24230Pro)
c.99883A>C (p.Thr33295Pro)
c.94960A>C (p.Thr31654Pro)
n.446+13590T>G
n.317-135T>G
c.98980A>C (p.Thr32994Pro)
c.72874A>C (p.Thr24292Pro)
c.72733A>C (p.Thr24245Pro)
c.98776A>C (p.Thr32926Pro)
c.94174A>C (p.Thr31392Pro)
c.94171A>C (p.Thr31391Pro)
c.91213A>C (p.Thr30405Pro)
c.72829A>C (p.Thr24277Pro)
c.94324A>C (p.Thr31442Pro)
c.94321A>C (p.Thr31441Pro)
c.93754A>C (p.Thr31252Pro)
c.91096A>C (p.Thr30366Pro)
c.91015A>C (p.Thr30339Pro)
c.72778A>C (p.Thr24260Pro)
c.62632A>C (p.Thr20878Pro)
2g.178537227A>CCA430238978TTN,TTN-AS1c.92178T>G (p.Pro30726=)
c.73263T>G (p.Pro24421=)
c.73062T>G (p.Pro24354=)
c.72687T>G (p.Pro24229=)
c.99882T>G (p.Pro33294=)
c.94959T>G (p.Pro31653=)
n.446+13591A>C
n.317-134A>C
c.98979T>G (p.Pro32993=)
c.72873T>G (p.Pro24291=)
c.72732T>G (p.Pro24244=)
c.98775T>G (p.Pro32925=)
c.94173T>G (p.Pro31391=)
c.94170T>G (p.Pro31390=)
c.91212T>G (p.Pro30404=)
c.72828T>G (p.Pro24276=)
c.94323T>G (p.Pro31441=)
c.94320T>G (p.Pro31440=)
c.93753T>G (p.Pro31251=)
c.91095T>G (p.Pro30365=)
c.91014T>G (p.Pro30338=)
c.72777T>G (p.Pro24259=)
c.62631T>G (p.Pro20877=)
2g.178537227A>GCA430238980TTN,TTN-AS1c.92178T>C (p.Pro30726=)
c.73263T>C (p.Pro24421=)
c.73062T>C (p.Pro24354=)
c.72687T>C (p.Pro24229=)
c.99882T>C (p.Pro33294=)
c.94959T>C (p.Pro31653=)
n.446+13591A>G
n.317-134A>G
c.98979T>C (p.Pro32993=)
c.72873T>C (p.Pro24291=)
c.72732T>C (p.Pro24244=)
c.98775T>C (p.Pro32925=)
c.94173T>C (p.Pro31391=)
c.94170T>C (p.Pro31390=)
c.91212T>C (p.Pro30404=)
c.72828T>C (p.Pro24276=)
c.94323T>C (p.Pro31441=)
c.94320T>C (p.Pro31440=)
c.93753T>C (p.Pro31251=)
c.91095T>C (p.Pro30365=)
c.91014T>C (p.Pro30338=)
c.72777T>C (p.Pro24259=)
c.62631T>C (p.Pro20877=)
2g.178537227A>TCA430238982TTN,TTN-AS1c.92178T>A (p.Pro30726=)
c.73263T>A (p.Pro24421=)
c.73062T>A (p.Pro24354=)
c.72687T>A (p.Pro24229=)
c.99882T>A (p.Pro33294=)
c.94959T>A (p.Pro31653=)
n.446+13591A>T
n.317-134A>T
c.98979T>A (p.Pro32993=)
c.72873T>A (p.Pro24291=)
c.72732T>A (p.Pro24244=)
c.98775T>A (p.Pro32925=)
c.94173T>A (p.Pro31391=)
c.94170T>A (p.Pro31390=)
c.91212T>A (p.Pro30404=)
c.72828T>A (p.Pro24276=)
c.94323T>A (p.Pro31441=)
c.94320T>A (p.Pro31440=)
c.93753T>A (p.Pro31251=)
c.91095T>A (p.Pro30365=)
c.91014T>A (p.Pro30338=)
c.72777T>A (p.Pro24259=)
c.62631T>A (p.Pro20877=)
2g.178537228G>ACA349427232TTN,TTN-AS1c.92177C>T (p.Pro30726Leu)
c.73262C>T (p.Pro24421Leu)
c.73061C>T (p.Pro24354Leu)
c.72686C>T (p.Pro24229Leu)
c.99881C>T (p.Pro33294Leu)
c.94958C>T (p.Pro31653Leu)
n.446+13592G>A
n.317-133G>A
c.98978C>T (p.Pro32993Leu)
c.72872C>T (p.Pro24291Leu)
c.72731C>T (p.Pro24244Leu)
c.98774C>T (p.Pro32925Leu)
c.94172C>T (p.Pro31391Leu)
c.94169C>T (p.Pro31390Leu)
c.91211C>T (p.Pro30404Leu)
c.72827C>T (p.Pro24276Leu)
c.94322C>T (p.Pro31441Leu)
c.94319C>T (p.Pro31440Leu)
c.93752C>T (p.Pro31251Leu)
c.91094C>T (p.Pro30365Leu)
c.91013C>T (p.Pro30338Leu)
c.72776C>T (p.Pro24259Leu)
c.62630C>T (p.Pro20877Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178537228G>CCA349427233TTN,TTN-AS1c.92177C>G (p.Pro30726Arg)
c.73262C>G (p.Pro24421Arg)
c.73061C>G (p.Pro24354Arg)
c.72686C>G (p.Pro24229Arg)
c.99881C>G (p.Pro33294Arg)
c.94958C>G (p.Pro31653Arg)
n.446+13592G>C
n.317-133G>C
c.98978C>G (p.Pro32993Arg)
c.72872C>G (p.Pro24291Arg)
c.72731C>G (p.Pro24244Arg)
c.98774C>G (p.Pro32925Arg)
c.94172C>G (p.Pro31391Arg)
c.94169C>G (p.Pro31390Arg)
c.91211C>G (p.Pro30404Arg)
c.72827C>G (p.Pro24276Arg)
c.94322C>G (p.Pro31441Arg)
c.94319C>G (p.Pro31440Arg)
c.93752C>G (p.Pro31251Arg)
c.91094C>G (p.Pro30365Arg)
c.91013C>G (p.Pro30338Arg)
c.72776C>G (p.Pro24259Arg)
c.62630C>G (p.Pro20877Arg)
2g.178537228G>TCA349427234TTN,TTN-AS1c.92177C>A (p.Pro30726His)
c.73262C>A (p.Pro24421His)
c.73061C>A (p.Pro24354His)
c.72686C>A (p.Pro24229His)
c.99881C>A (p.Pro33294His)
c.94958C>A (p.Pro31653His)
n.446+13592G>T
n.317-133G>T
c.98978C>A (p.Pro32993His)
c.72872C>A (p.Pro24291His)
c.72731C>A (p.Pro24244His)
c.98774C>A (p.Pro32925His)
c.94172C>A (p.Pro31391His)
c.94169C>A (p.Pro31390His)
c.91211C>A (p.Pro30404His)
c.72827C>A (p.Pro24276His)
c.94322C>A (p.Pro31441His)
c.94319C>A (p.Pro31440His)
c.93752C>A (p.Pro31251His)
c.91094C>A (p.Pro30365His)
c.91013C>A (p.Pro30338His)
c.72776C>A (p.Pro24259His)
c.62630C>A (p.Pro20877His)
2g.178537229G>ACA349427235TTN,TTN-AS1c.92176C>T (p.Pro30726Ser)
c.73261C>T (p.Pro24421Ser)
c.73060C>T (p.Pro24354Ser)
c.72685C>T (p.Pro24229Ser)
c.99880C>T (p.Pro33294Ser)
c.94957C>T (p.Pro31653Ser)
n.446+13593G>A
n.317-132G>A
c.98977C>T (p.Pro32993Ser)
c.72871C>T (p.Pro24291Ser)
c.72730C>T (p.Pro24244Ser)
c.98773C>T (p.Pro32925Ser)
c.94171C>T (p.Pro31391Ser)
c.94168C>T (p.Pro31390Ser)
c.91210C>T (p.Pro30404Ser)
c.72826C>T (p.Pro24276Ser)
c.94321C>T (p.Pro31441Ser)
c.94318C>T (p.Pro31440Ser)
c.93751C>T (p.Pro31251Ser)
c.91093C>T (p.Pro30365Ser)
c.91012C>T (p.Pro30338Ser)
c.72775C>T (p.Pro24259Ser)
c.62629C>T (p.Pro20877Ser)
 gnomAD v4
2g.178537229G>CCA349427237TTN,TTN-AS1c.92176C>G (p.Pro30726Ala)
c.73261C>G (p.Pro24421Ala)
c.73060C>G (p.Pro24354Ala)
c.72685C>G (p.Pro24229Ala)
c.99880C>G (p.Pro33294Ala)
c.94957C>G (p.Pro31653Ala)
n.446+13593G>C
n.317-132G>C
c.98977C>G (p.Pro32993Ala)
c.72871C>G (p.Pro24291Ala)
c.72730C>G (p.Pro24244Ala)
c.98773C>G (p.Pro32925Ala)
c.94171C>G (p.Pro31391Ala)
c.94168C>G (p.Pro31390Ala)
c.91210C>G (p.Pro30404Ala)
c.72826C>G (p.Pro24276Ala)
c.94321C>G (p.Pro31441Ala)
c.94318C>G (p.Pro31440Ala)
c.93751C>G (p.Pro31251Ala)
c.91093C>G (p.Pro30365Ala)
c.91012C>G (p.Pro30338Ala)
c.72775C>G (p.Pro24259Ala)
c.62629C>G (p.Pro20877Ala)
2g.178537229G>TCA349427236TTN,TTN-AS1c.92176C>A (p.Pro30726Thr)
c.73261C>A (p.Pro24421Thr)
c.73060C>A (p.Pro24354Thr)
c.72685C>A (p.Pro24229Thr)
c.99880C>A (p.Pro33294Thr)
c.94957C>A (p.Pro31653Thr)
n.446+13593G>T
n.317-132G>T
c.98977C>A (p.Pro32993Thr)
c.72871C>A (p.Pro24291Thr)
c.72730C>A (p.Pro24244Thr)
c.98773C>A (p.Pro32925Thr)
c.94171C>A (p.Pro31391Thr)
c.94168C>A (p.Pro31390Thr)
c.91210C>A (p.Pro30404Thr)
c.72826C>A (p.Pro24276Thr)
c.94321C>A (p.Pro31441Thr)
c.94318C>A (p.Pro31440Thr)
c.93751C>A (p.Pro31251Thr)
c.91093C>A (p.Pro30365Thr)
c.91012C>A (p.Pro30338Thr)
c.72775C>A (p.Pro24259Thr)
c.62629C>A (p.Pro20877Thr)
 gnomAD v4
2g.178537230T>ACA349427238TTN,TTN-AS1c.92175A>T (p.Lys30725Asn)
c.73260A>T (p.Lys24420Asn)
c.73059A>T (p.Lys24353Asn)
c.72684A>T (p.Lys24228Asn)
c.99879A>T (p.Lys33293Asn)
c.94956A>T (p.Lys31652Asn)
n.446+13594T>A
n.317-131T>A
c.98976A>T (p.Lys32992Asn)
c.72870A>T (p.Lys24290Asn)
c.72729A>T (p.Lys24243Asn)
c.98772A>T (p.Lys32924Asn)
c.94170A>T (p.Lys31390Asn)
c.94167A>T (p.Lys31389Asn)
c.91209A>T (p.Lys30403Asn)
c.72825A>T (p.Lys24275Asn)
c.94320A>T (p.Lys31440Asn)
c.94317A>T (p.Lys31439Asn)
c.93750A>T (p.Lys31250Asn)
c.91092A>T (p.Lys30364Asn)
c.91011A>T (p.Lys30337Asn)
c.72774A>T (p.Lys24258Asn)
c.62628A>T (p.Lys20876Asn)
2g.178537230T>CCA1986116TTN,TTN-AS1c.92175A>G (p.Lys30725=)
c.73260A>G (p.Lys24420=)
c.73059A>G (p.Lys24353=)
c.72684A>G (p.Lys24228=)
c.99879A>G (p.Lys33293=)
c.94956A>G (p.Lys31652=)
n.446+13594T>C
n.317-131T>C
c.98976A>G (p.Lys32992=)
c.72870A>G (p.Lys24290=)
c.72729A>G (p.Lys24243=)
c.98772A>G (p.Lys32924=)
c.94170A>G (p.Lys31390=)
c.94167A>G (p.Lys31389=)
c.91209A>G (p.Lys30403=)
c.72825A>G (p.Lys24275=)
c.94320A>G (p.Lys31440=)
c.94317A>G (p.Lys31439=)
c.93750A>G (p.Lys31250=)
c.91092A>G (p.Lys30364=)
c.91011A>G (p.Lys30337=)
c.72774A>G (p.Lys24258=)
c.62628A>G (p.Lys20876=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537230T>GCA349427239TTN,TTN-AS1c.92175A>C (p.Lys30725Asn)
c.73260A>C (p.Lys24420Asn)
c.73059A>C (p.Lys24353Asn)
c.72684A>C (p.Lys24228Asn)
c.99879A>C (p.Lys33293Asn)
c.94956A>C (p.Lys31652Asn)
n.446+13594T>G
n.317-131T>G
c.98976A>C (p.Lys32992Asn)
c.72870A>C (p.Lys24290Asn)
c.72729A>C (p.Lys24243Asn)
c.98772A>C (p.Lys32924Asn)
c.94170A>C (p.Lys31390Asn)
c.94167A>C (p.Lys31389Asn)
c.91209A>C (p.Lys30403Asn)
c.72825A>C (p.Lys24275Asn)
c.94320A>C (p.Lys31440Asn)
c.94317A>C (p.Lys31439Asn)
c.93750A>C (p.Lys31250Asn)
c.91092A>C (p.Lys30364Asn)
c.91011A>C (p.Lys30337Asn)
c.72774A>C (p.Lys24258Asn)
c.62628A>C (p.Lys20876Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178537230T=CA1310515336TTN,TTN-AS1c.92175A= (p.Lys30725=)
c.73260A= (p.Lys24420=)
c.73059A= (p.Lys24353=)
c.72684A= (p.Lys24228=)
c.99879A= (p.Lys33293=)
c.94956A= (p.Lys31652=)
n.446+13594T=
n.317-131T=
c.98976A= (p.Lys32992=)
c.72870A= (p.Lys24290=)
c.72729A= (p.Lys24243=)
c.98772A= (p.Lys32924=)
c.94170A= (p.Lys31390=)
c.94167A= (p.Lys31389=)
c.91209A= (p.Lys30403=)
c.72825A= (p.Lys24275=)
c.94320A= (p.Lys31440=)
c.94317A= (p.Lys31439=)
c.93750A= (p.Lys31250=)
c.91092A= (p.Lys30364=)
c.91011A= (p.Lys30337=)
c.72774A= (p.Lys24258=)
c.62628A= (p.Lys20876=)
2g.178537231T>ACA349427240TTN,TTN-AS1c.92174A>T (p.Lys30725Ile)
c.73259A>T (p.Lys24420Ile)
c.73058A>T (p.Lys24353Ile)
c.72683A>T (p.Lys24228Ile)
c.99878A>T (p.Lys33293Ile)
c.94955A>T (p.Lys31652Ile)
n.446+13595T>A
n.317-130T>A
c.98975A>T (p.Lys32992Ile)
c.72869A>T (p.Lys24290Ile)
c.72728A>T (p.Lys24243Ile)
c.98771A>T (p.Lys32924Ile)
c.94169A>T (p.Lys31390Ile)
c.94166A>T (p.Lys31389Ile)
c.91208A>T (p.Lys30403Ile)
c.72824A>T (p.Lys24275Ile)
c.94319A>T (p.Lys31440Ile)
c.94316A>T (p.Lys31439Ile)
c.93749A>T (p.Lys31250Ile)
c.91091A>T (p.Lys30364Ile)
c.91010A>T (p.Lys30337Ile)
c.72773A>T (p.Lys24258Ile)
c.62627A>T (p.Lys20876Ile)
 gnomAD v4
2g.178537231T>CCA349427241TTN,TTN-AS1c.92174A>G (p.Lys30725Arg)
c.73259A>G (p.Lys24420Arg)
c.73058A>G (p.Lys24353Arg)
c.72683A>G (p.Lys24228Arg)
c.99878A>G (p.Lys33293Arg)
c.94955A>G (p.Lys31652Arg)
n.446+13595T>C
n.317-130T>C
c.98975A>G (p.Lys32992Arg)
c.72869A>G (p.Lys24290Arg)
c.72728A>G (p.Lys24243Arg)
c.98771A>G (p.Lys32924Arg)
c.94169A>G (p.Lys31390Arg)
c.94166A>G (p.Lys31389Arg)
c.91208A>G (p.Lys30403Arg)
c.72824A>G (p.Lys24275Arg)
c.94319A>G (p.Lys31440Arg)
c.94316A>G (p.Lys31439Arg)
c.93749A>G (p.Lys31250Arg)
c.91091A>G (p.Lys30364Arg)
c.91010A>G (p.Lys30337Arg)
c.72773A>G (p.Lys24258Arg)
c.62627A>G (p.Lys20876Arg)
2g.178537231T>GCA349427242TTN,TTN-AS1c.92174A>C (p.Lys30725Thr)
c.73259A>C (p.Lys24420Thr)
c.73058A>C (p.Lys24353Thr)
c.72683A>C (p.Lys24228Thr)
c.99878A>C (p.Lys33293Thr)
c.94955A>C (p.Lys31652Thr)
n.446+13595T>G
n.317-130T>G
c.98975A>C (p.Lys32992Thr)
c.72869A>C (p.Lys24290Thr)
c.72728A>C (p.Lys24243Thr)
c.98771A>C (p.Lys32924Thr)
c.94169A>C (p.Lys31390Thr)
c.94166A>C (p.Lys31389Thr)
c.91208A>C (p.Lys30403Thr)
c.72824A>C (p.Lys24275Thr)
c.94319A>C (p.Lys31440Thr)
c.94316A>C (p.Lys31439Thr)
c.93749A>C (p.Lys31250Thr)
c.91091A>C (p.Lys30364Thr)
c.91010A>C (p.Lys30337Thr)
c.72773A>C (p.Lys24258Thr)
c.62627A>C (p.Lys20876Thr)
2g.178537231_178537232delinsACCA2573051770TTN,TTN-AS1c.92173_92174delinsGT (p.Lys30725Val)
c.73258_73259delinsGT (p.Lys24420Val)
c.73057_73058delinsGT (p.Lys24353Val)
c.72682_72683delinsGT (p.Lys24228Val)
c.99877_99878delinsGT (p.Lys33293Val)
c.94954_94955delinsGT (p.Lys31652Val)
n.446+13595_446+13596delinsAC
n.317-130_317-129delinsAC
c.98974_98975delinsGT (p.Lys32992Val)
c.72868_72869delinsGT (p.Lys24290Val)
c.72727_72728delinsGT (p.Lys24243Val)
c.98770_98771delinsGT (p.Lys32924Val)
c.94168_94169delinsGT (p.Lys31390Val)
c.94165_94166delinsGT (p.Lys31389Val)
c.91207_91208delinsGT (p.Lys30403Val)
c.72823_72824delinsGT (p.Lys24275Val)
c.94318_94319delinsGT (p.Lys31440Val)
c.94315_94316delinsGT (p.Lys31439Val)
c.93748_93749delinsGT (p.Lys31250Val)
c.91090_91091delinsGT (p.Lys30364Val)
c.91009_91010delinsGT (p.Lys30337Val)
c.72772_72773delinsGT (p.Lys24258Val)
c.62626_62627delinsGT (p.Lys20876Val)
 ClinVar dbSNP
2g.178537232T>ACA349427243TTN,TTN-AS1c.92173A>T (p.Lys30725Ter)
c.73258A>T (p.Lys24420Ter)
c.73057A>T (p.Lys24353Ter)
c.72682A>T (p.Lys24228Ter)
c.99877A>T (p.Lys33293Ter)
c.94954A>T (p.Lys31652Ter)
n.446+13596T>A
n.317-129T>A
c.98974A>T (p.Lys32992Ter)
c.72868A>T (p.Lys24290Ter)
c.72727A>T (p.Lys24243Ter)
c.98770A>T (p.Lys32924Ter)
c.94168A>T (p.Lys31390Ter)
c.94165A>T (p.Lys31389Ter)
c.91207A>T (p.Lys30403Ter)
c.72823A>T (p.Lys24275Ter)
c.94318A>T (p.Lys31440Ter)
c.94315A>T (p.Lys31439Ter)
c.93748A>T (p.Lys31250Ter)
c.91090A>T (p.Lys30364Ter)
c.91009A>T (p.Lys30337Ter)
c.72772A>T (p.Lys24258Ter)
c.62626A>T (p.Lys20876Ter)
2g.178537232T>CCA349427244TTN,TTN-AS1c.92173A>G (p.Lys30725Glu)
c.73258A>G (p.Lys24420Glu)
c.73057A>G (p.Lys24353Glu)
c.72682A>G (p.Lys24228Glu)
c.99877A>G (p.Lys33293Glu)
c.94954A>G (p.Lys31652Glu)
n.446+13596T>C
n.317-129T>C
c.98974A>G (p.Lys32992Glu)
c.72868A>G (p.Lys24290Glu)
c.72727A>G (p.Lys24243Glu)
c.98770A>G (p.Lys32924Glu)
c.94168A>G (p.Lys31390Glu)
c.94165A>G (p.Lys31389Glu)
c.91207A>G (p.Lys30403Glu)
c.72823A>G (p.Lys24275Glu)
c.94318A>G (p.Lys31440Glu)
c.94315A>G (p.Lys31439Glu)
c.93748A>G (p.Lys31250Glu)
c.91090A>G (p.Lys30364Glu)
c.91009A>G (p.Lys30337Glu)
c.72772A>G (p.Lys24258Glu)
c.62626A>G (p.Lys20876Glu)
 gnomAD v4
2g.178537232T>GCA349427245TTN,TTN-AS1c.92173A>C (p.Lys30725Gln)
c.73258A>C (p.Lys24420Gln)
c.73057A>C (p.Lys24353Gln)
c.72682A>C (p.Lys24228Gln)
c.99877A>C (p.Lys33293Gln)
c.94954A>C (p.Lys31652Gln)
n.446+13596T>G
n.317-129T>G
c.98974A>C (p.Lys32992Gln)
c.72868A>C (p.Lys24290Gln)
c.72727A>C (p.Lys24243Gln)
c.98770A>C (p.Lys32924Gln)
c.94168A>C (p.Lys31390Gln)
c.94165A>C (p.Lys31389Gln)
c.91207A>C (p.Lys30403Gln)
c.72823A>C (p.Lys24275Gln)
c.94318A>C (p.Lys31440Gln)
c.94315A>C (p.Lys31439Gln)
c.93748A>C (p.Lys31250Gln)
c.91090A>C (p.Lys30364Gln)
c.91009A>C (p.Lys30337Gln)
c.72772A>C (p.Lys24258Gln)
c.62626A>C (p.Lys20876Gln)
2g.178537233G>ACA430238997TTN,TTN-AS1c.92172C>T (p.Asp30724=)
c.73257C>T (p.Asp24419=)
c.73056C>T (p.Asp24352=)
c.72681C>T (p.Asp24227=)
c.99876C>T (p.Asp33292=)
c.94953C>T (p.Asp31651=)
n.446+13597G>A
n.317-128G>A
c.98973C>T (p.Asp32991=)
c.72867C>T (p.Asp24289=)
c.72726C>T (p.Asp24242=)
c.98769C>T (p.Asp32923=)
c.94167C>T (p.Asp31389=)
c.94164C>T (p.Asp31388=)
c.91206C>T (p.Asp30402=)
c.72822C>T (p.Asp24274=)
c.94317C>T (p.Asp31439=)
c.94314C>T (p.Asp31438=)
c.93747C>T (p.Asp31249=)
c.91089C>T (p.Asp30363=)
c.91008C>T (p.Asp30336=)
c.72771C>T (p.Asp24257=)
c.62625C>T (p.Asp20875=)
2g.178537233G>CCA349427246TTN,TTN-AS1c.92172C>G (p.Asp30724Glu)
c.73257C>G (p.Asp24419Glu)
c.73056C>G (p.Asp24352Glu)
c.72681C>G (p.Asp24227Glu)
c.99876C>G (p.Asp33292Glu)
c.94953C>G (p.Asp31651Glu)
n.446+13597G>C
n.317-128G>C
c.98973C>G (p.Asp32991Glu)
c.72867C>G (p.Asp24289Glu)
c.72726C>G (p.Asp24242Glu)
c.98769C>G (p.Asp32923Glu)
c.94167C>G (p.Asp31389Glu)
c.94164C>G (p.Asp31388Glu)
c.91206C>G (p.Asp30402Glu)
c.72822C>G (p.Asp24274Glu)
c.94317C>G (p.Asp31439Glu)
c.94314C>G (p.Asp31438Glu)
c.93747C>G (p.Asp31249Glu)
c.91089C>G (p.Asp30363Glu)
c.91008C>G (p.Asp30336Glu)
c.72771C>G (p.Asp24257Glu)
c.62625C>G (p.Asp20875Glu)
2g.178537233G>TCA349427247TTN,TTN-AS1c.92172C>A (p.Asp30724Glu)
c.73257C>A (p.Asp24419Glu)
c.73056C>A (p.Asp24352Glu)
c.72681C>A (p.Asp24227Glu)
c.99876C>A (p.Asp33292Glu)
c.94953C>A (p.Asp31651Glu)
n.446+13597G>T
n.317-128G>T
c.98973C>A (p.Asp32991Glu)
c.72867C>A (p.Asp24289Glu)
c.72726C>A (p.Asp24242Glu)
c.98769C>A (p.Asp32923Glu)
c.94167C>A (p.Asp31389Glu)
c.94164C>A (p.Asp31388Glu)
c.91206C>A (p.Asp30402Glu)
c.72822C>A (p.Asp24274Glu)
c.94317C>A (p.Asp31439Glu)
c.94314C>A (p.Asp31438Glu)
c.93747C>A (p.Asp31249Glu)
c.91089C>A (p.Asp30363Glu)
c.91008C>A (p.Asp30336Glu)
c.72771C>A (p.Asp24257Glu)
c.62625C>A (p.Asp20875Glu)
2g.178537234T>ACA349427248TTN,TTN-AS1c.92171A>T (p.Asp30724Val)
c.73256A>T (p.Asp24419Val)
c.73055A>T (p.Asp24352Val)
c.72680A>T (p.Asp24227Val)
c.99875A>T (p.Asp33292Val)
c.94952A>T (p.Asp31651Val)
n.446+13598T>A
n.317-127T>A
c.98972A>T (p.Asp32991Val)
c.72866A>T (p.Asp24289Val)
c.72725A>T (p.Asp24242Val)
c.98768A>T (p.Asp32923Val)
c.94166A>T (p.Asp31389Val)
c.94163A>T (p.Asp31388Val)
c.91205A>T (p.Asp30402Val)
c.72821A>T (p.Asp24274Val)
c.94316A>T (p.Asp31439Val)
c.94313A>T (p.Asp31438Val)
c.93746A>T (p.Asp31249Val)
c.91088A>T (p.Asp30363Val)
c.91007A>T (p.Asp30336Val)
c.72770A>T (p.Asp24257Val)
c.62624A>T (p.Asp20875Val)
2g.178537234T>CCA349427250TTN,TTN-AS1c.92171A>G (p.Asp30724Gly)
c.73256A>G (p.Asp24419Gly)
c.73055A>G (p.Asp24352Gly)
c.72680A>G (p.Asp24227Gly)
c.99875A>G (p.Asp33292Gly)
c.94952A>G (p.Asp31651Gly)
n.446+13598T>C
n.317-127T>C
c.98972A>G (p.Asp32991Gly)
c.72866A>G (p.Asp24289Gly)
c.72725A>G (p.Asp24242Gly)
c.98768A>G (p.Asp32923Gly)
c.94166A>G (p.Asp31389Gly)
c.94163A>G (p.Asp31388Gly)
c.91205A>G (p.Asp30402Gly)
c.72821A>G (p.Asp24274Gly)
c.94316A>G (p.Asp31439Gly)
c.94313A>G (p.Asp31438Gly)
c.93746A>G (p.Asp31249Gly)
c.91088A>G (p.Asp30363Gly)
c.91007A>G (p.Asp30336Gly)
c.72770A>G (p.Asp24257Gly)
c.62624A>G (p.Asp20875Gly)
2g.178537234T>GCA349427249TTN,TTN-AS1c.92171A>C (p.Asp30724Ala)
c.73256A>C (p.Asp24419Ala)
c.73055A>C (p.Asp24352Ala)
c.72680A>C (p.Asp24227Ala)
c.99875A>C (p.Asp33292Ala)
c.94952A>C (p.Asp31651Ala)
n.446+13598T>G
n.317-127T>G
c.98972A>C (p.Asp32991Ala)
c.72866A>C (p.Asp24289Ala)
c.72725A>C (p.Asp24242Ala)
c.98768A>C (p.Asp32923Ala)
c.94166A>C (p.Asp31389Ala)
c.94163A>C (p.Asp31388Ala)
c.91205A>C (p.Asp30402Ala)
c.72821A>C (p.Asp24274Ala)
c.94316A>C (p.Asp31439Ala)
c.94313A>C (p.Asp31438Ala)
c.93746A>C (p.Asp31249Ala)
c.91088A>C (p.Asp30363Ala)
c.91007A>C (p.Asp30336Ala)
c.72770A>C (p.Asp24257Ala)
c.62624A>C (p.Asp20875Ala)
2g.178537235delCA2580614422TTN,TTN-AS1c.92170del (p.Asp30724ThrfsTer8)
c.73255del (p.Asp24419ThrfsTer8)
c.73054del (p.Asp24352ThrfsTer8)
c.72679del (p.Asp24227ThrfsTer8)
c.99874del (p.Asp33292ThrfsTer8)
c.94951del (p.Asp31651ThrfsTer8)
n.446+13599del
n.317-126del
c.98971del (p.Asp32991ThrfsTer8)
c.72865del (p.Asp24289ThrfsTer8)
c.72724del (p.Asp24242ThrfsTer8)
c.98767del (p.Asp32923ThrfsTer8)
c.94165del (p.Asp31389ThrfsTer8)
c.94162del (p.Asp31388ThrfsTer8)
c.91204del (p.Asp30402ThrfsTer8)
c.72820del (p.Asp24274ThrfsTer8)
c.94315del (p.Asp31439ThrfsTer8)
c.94312del (p.Asp31438ThrfsTer8)
c.93745del (p.Asp31249ThrfsTer8)
c.91087del (p.Asp30363ThrfsTer8)
c.91006del (p.Asp30336ThrfsTer8)
c.72769del (p.Asp24257ThrfsTer8)
c.62623del (p.Asp20875ThrfsTer8)
 ClinVar
2g.178537235C>ACA349427251TTN,TTN-AS1c.92170G>T (p.Asp30724Tyr)
c.73255G>T (p.Asp24419Tyr)
c.73054G>T (p.Asp24352Tyr)
c.72679G>T (p.Asp24227Tyr)
c.99874G>T (p.Asp33292Tyr)
c.94951G>T (p.Asp31651Tyr)
n.446+13599C>A
n.317-126C>A
c.98971G>T (p.Asp32991Tyr)
c.72865G>T (p.Asp24289Tyr)
c.72724G>T (p.Asp24242Tyr)
c.98767G>T (p.Asp32923Tyr)
c.94165G>T (p.Asp31389Tyr)
c.94162G>T (p.Asp31388Tyr)
c.91204G>T (p.Asp30402Tyr)
c.72820G>T (p.Asp24274Tyr)
c.94315G>T (p.Asp31439Tyr)
c.94312G>T (p.Asp31438Tyr)
c.93745G>T (p.Asp31249Tyr)
c.91087G>T (p.Asp30363Tyr)
c.91006G>T (p.Asp30336Tyr)
c.72769G>T (p.Asp24257Tyr)
c.62623G>T (p.Asp20875Tyr)
2g.178537235C>GCA349427253TTN,TTN-AS1c.92170G>C (p.Asp30724His)
c.73255G>C (p.Asp24419His)
c.73054G>C (p.Asp24352His)
c.72679G>C (p.Asp24227His)
c.99874G>C (p.Asp33292His)
c.94951G>C (p.Asp31651His)
n.446+13599C>G
n.317-126C>G
c.98971G>C (p.Asp32991His)
c.72865G>C (p.Asp24289His)
c.72724G>C (p.Asp24242His)
c.98767G>C (p.Asp32923His)
c.94165G>C (p.Asp31389His)
c.94162G>C (p.Asp31388His)
c.91204G>C (p.Asp30402His)
c.72820G>C (p.Asp24274His)
c.94315G>C (p.Asp31439His)
c.94312G>C (p.Asp31438His)
c.93745G>C (p.Asp31249His)
c.91087G>C (p.Asp30363His)
c.91006G>C (p.Asp30336His)
c.72769G>C (p.Asp24257His)
c.62623G>C (p.Asp20875His)
2g.178537235C>TCA349427252TTN,TTN-AS1c.92170G>A (p.Asp30724Asn)
c.73255G>A (p.Asp24419Asn)
c.73054G>A (p.Asp24352Asn)
c.72679G>A (p.Asp24227Asn)
c.99874G>A (p.Asp33292Asn)
c.94951G>A (p.Asp31651Asn)
n.446+13599C>T
n.317-126C>T
c.98971G>A (p.Asp32991Asn)
c.72865G>A (p.Asp24289Asn)
c.72724G>A (p.Asp24242Asn)
c.98767G>A (p.Asp32923Asn)
c.94165G>A (p.Asp31389Asn)
c.94162G>A (p.Asp31388Asn)
c.91204G>A (p.Asp30402Asn)
c.72820G>A (p.Asp24274Asn)
c.94315G>A (p.Asp31439Asn)
c.94312G>A (p.Asp31438Asn)
c.93745G>A (p.Asp31249Asn)
c.91087G>A (p.Asp30363Asn)
c.91006G>A (p.Asp30336Asn)
c.72769G>A (p.Asp24257Asn)
c.62623G>A (p.Asp20875Asn)
2g.178537236T>ACA430239002TTN,TTN-AS1c.92169A>T (p.Pro30723=)
c.73254A>T (p.Pro24418=)
c.73053A>T (p.Pro24351=)
c.72678A>T (p.Pro24226=)
c.99873A>T (p.Pro33291=)
c.94950A>T (p.Pro31650=)
n.446+13600T>A
n.317-125T>A
c.98970A>T (p.Pro32990=)
c.72864A>T (p.Pro24288=)
c.72723A>T (p.Pro24241=)
c.98766A>T (p.Pro32922=)
c.94164A>T (p.Pro31388=)
c.94161A>T (p.Pro31387=)
c.91203A>T (p.Pro30401=)
c.72819A>T (p.Pro24273=)
c.94314A>T (p.Pro31438=)
c.94311A>T (p.Pro31437=)
c.93744A>T (p.Pro31248=)
c.91086A>T (p.Pro30362=)
c.91005A>T (p.Pro30335=)
c.72768A>T (p.Pro24256=)
c.62622A>T (p.Pro20874=)
2g.178537236T>CCA430239004TTN,TTN-AS1c.92169A>G (p.Pro30723=)
c.73254A>G (p.Pro24418=)
c.73053A>G (p.Pro24351=)
c.72678A>G (p.Pro24226=)
c.99873A>G (p.Pro33291=)
c.94950A>G (p.Pro31650=)
n.446+13600T>C
n.317-125T>C
c.98970A>G (p.Pro32990=)
c.72864A>G (p.Pro24288=)
c.72723A>G (p.Pro24241=)
c.98766A>G (p.Pro32922=)
c.94164A>G (p.Pro31388=)
c.94161A>G (p.Pro31387=)
c.91203A>G (p.Pro30401=)
c.72819A>G (p.Pro24273=)
c.94314A>G (p.Pro31438=)
c.94311A>G (p.Pro31437=)
c.93744A>G (p.Pro31248=)
c.91086A>G (p.Pro30362=)
c.91005A>G (p.Pro30335=)
c.72768A>G (p.Pro24256=)
c.62622A>G (p.Pro20874=)
2g.178537236T>GCA430239003TTN,TTN-AS1c.92169A>C (p.Pro30723=)
c.73254A>C (p.Pro24418=)
c.73053A>C (p.Pro24351=)
c.72678A>C (p.Pro24226=)
c.99873A>C (p.Pro33291=)
c.94950A>C (p.Pro31650=)
n.446+13600T>G
n.317-125T>G
c.98970A>C (p.Pro32990=)
c.72864A>C (p.Pro24288=)
c.72723A>C (p.Pro24241=)
c.98766A>C (p.Pro32922=)
c.94164A>C (p.Pro31388=)
c.94161A>C (p.Pro31387=)
c.91203A>C (p.Pro30401=)
c.72819A>C (p.Pro24273=)
c.94314A>C (p.Pro31438=)
c.94311A>C (p.Pro31437=)
c.93744A>C (p.Pro31248=)
c.91086A>C (p.Pro30362=)
c.91005A>C (p.Pro30335=)
c.72768A>C (p.Pro24256=)
c.62622A>C (p.Pro20874=)
2g.178537237G>ACA349427254TTN,TTN-AS1c.92168C>T (p.Pro30723Leu)
c.73253C>T (p.Pro24418Leu)
c.73052C>T (p.Pro24351Leu)
c.72677C>T (p.Pro24226Leu)
c.99872C>T (p.Pro33291Leu)
c.94949C>T (p.Pro31650Leu)
n.446+13601G>A
n.317-124G>A
c.98969C>T (p.Pro32990Leu)
c.72863C>T (p.Pro24288Leu)
c.72722C>T (p.Pro24241Leu)
c.98765C>T (p.Pro32922Leu)
c.94163C>T (p.Pro31388Leu)
c.94160C>T (p.Pro31387Leu)
c.91202C>T (p.Pro30401Leu)
c.72818C>T (p.Pro24273Leu)
c.94313C>T (p.Pro31438Leu)
c.94310C>T (p.Pro31437Leu)
c.93743C>T (p.Pro31248Leu)
c.91085C>T (p.Pro30362Leu)
c.91004C>T (p.Pro30335Leu)
c.72767C>T (p.Pro24256Leu)
c.62621C>T (p.Pro20874Leu)
 dbSNP
2g.178537237G>CCA349427255TTN,TTN-AS1c.92168C>G (p.Pro30723Arg)
c.73253C>G (p.Pro24418Arg)
c.73052C>G (p.Pro24351Arg)
c.72677C>G (p.Pro24226Arg)
c.99872C>G (p.Pro33291Arg)
c.94949C>G (p.Pro31650Arg)
n.446+13601G>C
n.317-124G>C
c.98969C>G (p.Pro32990Arg)
c.72863C>G (p.Pro24288Arg)
c.72722C>G (p.Pro24241Arg)
c.98765C>G (p.Pro32922Arg)
c.94163C>G (p.Pro31388Arg)
c.94160C>G (p.Pro31387Arg)
c.91202C>G (p.Pro30401Arg)
c.72818C>G (p.Pro24273Arg)
c.94313C>G (p.Pro31438Arg)
c.94310C>G (p.Pro31437Arg)
c.93743C>G (p.Pro31248Arg)
c.91085C>G (p.Pro30362Arg)
c.91004C>G (p.Pro30335Arg)
c.72767C>G (p.Pro24256Arg)
c.62621C>G (p.Pro20874Arg)
2g.178537237G=CA1310515337TTN,TTN-AS1c.92168C= (p.Pro30723=)
c.73253C= (p.Pro24418=)
c.73052C= (p.Pro24351=)
c.72677C= (p.Pro24226=)
c.99872C= (p.Pro33291=)
c.94949C= (p.Pro31650=)
n.446+13601G=
n.317-124G=
c.98969C= (p.Pro32990=)
c.72863C= (p.Pro24288=)
c.72722C= (p.Pro24241=)
c.98765C= (p.Pro32922=)
c.94163C= (p.Pro31388=)
c.94160C= (p.Pro31387=)
c.91202C= (p.Pro30401=)
c.72818C= (p.Pro24273=)
c.94313C= (p.Pro31438=)
c.94310C= (p.Pro31437=)
c.93743C= (p.Pro31248=)
c.91085C= (p.Pro30362=)
c.91004C= (p.Pro30335=)
c.72767C= (p.Pro24256=)
c.62621C= (p.Pro20874=)
2g.178537237G>TCA349427256TTN,TTN-AS1c.92168C>A (p.Pro30723Gln)
c.73253C>A (p.Pro24418Gln)
c.73052C>A (p.Pro24351Gln)
c.72677C>A (p.Pro24226Gln)
c.99872C>A (p.Pro33291Gln)
c.94949C>A (p.Pro31650Gln)
n.446+13601G>T
n.317-124G>T
c.98969C>A (p.Pro32990Gln)
c.72863C>A (p.Pro24288Gln)
c.72722C>A (p.Pro24241Gln)
c.98765C>A (p.Pro32922Gln)
c.94163C>A (p.Pro31388Gln)
c.94160C>A (p.Pro31387Gln)
c.91202C>A (p.Pro30401Gln)
c.72818C>A (p.Pro24273Gln)
c.94313C>A (p.Pro31438Gln)
c.94310C>A (p.Pro31437Gln)
c.93743C>A (p.Pro31248Gln)
c.91085C>A (p.Pro30362Gln)
c.91004C>A (p.Pro30335Gln)
c.72767C>A (p.Pro24256Gln)
c.62621C>A (p.Pro20874Gln)
 gnomAD v4
2g.178537238G>ACA349427257TTN,TTN-AS1c.92167C>T (p.Pro30723Ser)
c.73252C>T (p.Pro24418Ser)
c.73051C>T (p.Pro24351Ser)
c.72676C>T (p.Pro24226Ser)
c.99871C>T (p.Pro33291Ser)
c.94948C>T (p.Pro31650Ser)
n.446+13602G>A
n.317-123G>A
c.98968C>T (p.Pro32990Ser)
c.72862C>T (p.Pro24288Ser)
c.72721C>T (p.Pro24241Ser)
c.98764C>T (p.Pro32922Ser)
c.94162C>T (p.Pro31388Ser)
c.94159C>T (p.Pro31387Ser)
c.91201C>T (p.Pro30401Ser)
c.72817C>T (p.Pro24273Ser)
c.94312C>T (p.Pro31438Ser)
c.94309C>T (p.Pro31437Ser)
c.93742C>T (p.Pro31248Ser)
c.91084C>T (p.Pro30362Ser)
c.91003C>T (p.Pro30335Ser)
c.72766C>T (p.Pro24256Ser)
c.62620C>T (p.Pro20874Ser)
2g.178537238G>CCA349427258TTN,TTN-AS1c.92167C>G (p.Pro30723Ala)
c.73252C>G (p.Pro24418Ala)
c.73051C>G (p.Pro24351Ala)
c.72676C>G (p.Pro24226Ala)
c.99871C>G (p.Pro33291Ala)
c.94948C>G (p.Pro31650Ala)
n.446+13602G>C
n.317-123G>C
c.98968C>G (p.Pro32990Ala)
c.72862C>G (p.Pro24288Ala)
c.72721C>G (p.Pro24241Ala)
c.98764C>G (p.Pro32922Ala)
c.94162C>G (p.Pro31388Ala)
c.94159C>G (p.Pro31387Ala)
c.91201C>G (p.Pro30401Ala)
c.72817C>G (p.Pro24273Ala)
c.94312C>G (p.Pro31438Ala)
c.94309C>G (p.Pro31437Ala)
c.93742C>G (p.Pro31248Ala)
c.91084C>G (p.Pro30362Ala)
c.91003C>G (p.Pro30335Ala)
c.72766C>G (p.Pro24256Ala)
c.62620C>G (p.Pro20874Ala)
2g.178537238G>TCA349427259TTN,TTN-AS1c.92167C>A (p.Pro30723Thr)
c.73252C>A (p.Pro24418Thr)
c.73051C>A (p.Pro24351Thr)
c.72676C>A (p.Pro24226Thr)
c.99871C>A (p.Pro33291Thr)
c.94948C>A (p.Pro31650Thr)
n.446+13602G>T
n.317-123G>T
c.98968C>A (p.Pro32990Thr)
c.72862C>A (p.Pro24288Thr)
c.72721C>A (p.Pro24241Thr)
c.98764C>A (p.Pro32922Thr)
c.94162C>A (p.Pro31388Thr)
c.94159C>A (p.Pro31387Thr)
c.91201C>A (p.Pro30401Thr)
c.72817C>A (p.Pro24273Thr)
c.94312C>A (p.Pro31438Thr)
c.94309C>A (p.Pro31437Thr)
c.93742C>A (p.Pro31248Thr)
c.91084C>A (p.Pro30362Thr)
c.91003C>A (p.Pro30335Thr)
c.72766C>A (p.Pro24256Thr)
c.62620C>A (p.Pro20874Thr)
2g.178537239T>ACA349427260TTN,TTN-AS1c.92166A>T (p.Lys30722Asn)
c.73251A>T (p.Lys24417Asn)
c.73050A>T (p.Lys24350Asn)
c.72675A>T (p.Lys24225Asn)
c.99870A>T (p.Lys33290Asn)
c.94947A>T (p.Lys31649Asn)
n.446+13603T>A
n.317-122T>A
c.98967A>T (p.Lys32989Asn)
c.72861A>T (p.Lys24287Asn)
c.72720A>T (p.Lys24240Asn)
c.98763A>T (p.Lys32921Asn)
c.94161A>T (p.Lys31387Asn)
c.94158A>T (p.Lys31386Asn)
c.91200A>T (p.Lys30400Asn)
c.72816A>T (p.Lys24272Asn)
c.94311A>T (p.Lys31437Asn)
c.94308A>T (p.Lys31436Asn)
c.93741A>T (p.Lys31247Asn)
c.91083A>T (p.Lys30361Asn)
c.91002A>T (p.Lys30334Asn)
c.72765A>T (p.Lys24255Asn)
c.62619A>T (p.Lys20873Asn)
2g.178537239T>CCA430239009TTN,TTN-AS1c.92166A>G (p.Lys30722=)
c.73251A>G (p.Lys24417=)
c.73050A>G (p.Lys24350=)
c.72675A>G (p.Lys24225=)
c.99870A>G (p.Lys33290=)
c.94947A>G (p.Lys31649=)
n.446+13603T>C
n.317-122T>C
c.98967A>G (p.Lys32989=)
c.72861A>G (p.Lys24287=)
c.72720A>G (p.Lys24240=)
c.98763A>G (p.Lys32921=)
c.94161A>G (p.Lys31387=)
c.94158A>G (p.Lys31386=)
c.91200A>G (p.Lys30400=)
c.72816A>G (p.Lys24272=)
c.94311A>G (p.Lys31437=)
c.94308A>G (p.Lys31436=)
c.93741A>G (p.Lys31247=)
c.91083A>G (p.Lys30361=)
c.91002A>G (p.Lys30334=)
c.72765A>G (p.Lys24255=)
c.62619A>G (p.Lys20873=)
2g.178537239T>GCA349427261TTN,TTN-AS1c.92166A>C (p.Lys30722Asn)
c.73251A>C (p.Lys24417Asn)
c.73050A>C (p.Lys24350Asn)
c.72675A>C (p.Lys24225Asn)
c.99870A>C (p.Lys33290Asn)
c.94947A>C (p.Lys31649Asn)
n.446+13603T>G
n.317-122T>G
c.98967A>C (p.Lys32989Asn)
c.72861A>C (p.Lys24287Asn)
c.72720A>C (p.Lys24240Asn)
c.98763A>C (p.Lys32921Asn)
c.94161A>C (p.Lys31387Asn)
c.94158A>C (p.Lys31386Asn)
c.91200A>C (p.Lys30400Asn)
c.72816A>C (p.Lys24272Asn)
c.94311A>C (p.Lys31437Asn)
c.94308A>C (p.Lys31436Asn)
c.93741A>C (p.Lys31247Asn)
c.91083A>C (p.Lys30361Asn)
c.91002A>C (p.Lys30334Asn)
c.72765A>C (p.Lys24255Asn)
c.62619A>C (p.Lys20873Asn)
2g.178537240T>ACA349427262TTN,TTN-AS1c.92165A>T (p.Lys30722Ile)
c.73250A>T (p.Lys24417Ile)
c.73049A>T (p.Lys24350Ile)
c.72674A>T (p.Lys24225Ile)
c.99869A>T (p.Lys33290Ile)
c.94946A>T (p.Lys31649Ile)
n.446+13604T>A
n.317-121T>A
c.98966A>T (p.Lys32989Ile)
c.72860A>T (p.Lys24287Ile)
c.72719A>T (p.Lys24240Ile)
c.98762A>T (p.Lys32921Ile)
c.94160A>T (p.Lys31387Ile)
c.94157A>T (p.Lys31386Ile)
c.91199A>T (p.Lys30400Ile)
c.72815A>T (p.Lys24272Ile)
c.94310A>T (p.Lys31437Ile)
c.94307A>T (p.Lys31436Ile)
c.93740A>T (p.Lys31247Ile)
c.91082A>T (p.Lys30361Ile)
c.91001A>T (p.Lys30334Ile)
c.72764A>T (p.Lys24255Ile)
c.62618A>T (p.Lys20873Ile)
2g.178537240T>CCA349427263TTN,TTN-AS1c.92165A>G (p.Lys30722Arg)
c.73250A>G (p.Lys24417Arg)
c.73049A>G (p.Lys24350Arg)
c.72674A>G (p.Lys24225Arg)
c.99869A>G (p.Lys33290Arg)
c.94946A>G (p.Lys31649Arg)
n.446+13604T>C
n.317-121T>C
c.98966A>G (p.Lys32989Arg)
c.72860A>G (p.Lys24287Arg)
c.72719A>G (p.Lys24240Arg)
c.98762A>G (p.Lys32921Arg)
c.94160A>G (p.Lys31387Arg)
c.94157A>G (p.Lys31386Arg)
c.91199A>G (p.Lys30400Arg)
c.72815A>G (p.Lys24272Arg)
c.94310A>G (p.Lys31437Arg)
c.94307A>G (p.Lys31436Arg)
c.93740A>G (p.Lys31247Arg)
c.91082A>G (p.Lys30361Arg)
c.91001A>G (p.Lys30334Arg)
c.72764A>G (p.Lys24255Arg)
c.62618A>G (p.Lys20873Arg)
2g.178537240T>GCA349427264TTN,TTN-AS1c.92165A>C (p.Lys30722Thr)
c.73250A>C (p.Lys24417Thr)
c.73049A>C (p.Lys24350Thr)
c.72674A>C (p.Lys24225Thr)
c.99869A>C (p.Lys33290Thr)
c.94946A>C (p.Lys31649Thr)
n.446+13604T>G
n.317-121T>G
c.98966A>C (p.Lys32989Thr)
c.72860A>C (p.Lys24287Thr)
c.72719A>C (p.Lys24240Thr)
c.98762A>C (p.Lys32921Thr)
c.94160A>C (p.Lys31387Thr)
c.94157A>C (p.Lys31386Thr)
c.91199A>C (p.Lys30400Thr)
c.72815A>C (p.Lys24272Thr)
c.94310A>C (p.Lys31437Thr)
c.94307A>C (p.Lys31436Thr)
c.93740A>C (p.Lys31247Thr)
c.91082A>C (p.Lys30361Thr)
c.91001A>C (p.Lys30334Thr)
c.72764A>C (p.Lys24255Thr)
c.62618A>C (p.Lys20873Thr)
2g.178537241T>ACA349427267TTN,TTN-AS1c.92164A>T (p.Lys30722Ter)
c.73249A>T (p.Lys24417Ter)
c.73048A>T (p.Lys24350Ter)
c.72673A>T (p.Lys24225Ter)
c.99868A>T (p.Lys33290Ter)
c.94945A>T (p.Lys31649Ter)
n.446+13605T>A
n.317-120T>A
c.98965A>T (p.Lys32989Ter)
c.72859A>T (p.Lys24287Ter)
c.72718A>T (p.Lys24240Ter)
c.98761A>T (p.Lys32921Ter)
c.94159A>T (p.Lys31387Ter)
c.94156A>T (p.Lys31386Ter)
c.91198A>T (p.Lys30400Ter)
c.72814A>T (p.Lys24272Ter)
c.94309A>T (p.Lys31437Ter)
c.94306A>T (p.Lys31436Ter)
c.93739A>T (p.Lys31247Ter)
c.91081A>T (p.Lys30361Ter)
c.91000A>T (p.Lys30334Ter)
c.72763A>T (p.Lys24255Ter)
c.62617A>T (p.Lys20873Ter)
2g.178537241T>CCA349427266TTN,TTN-AS1c.92164A>G (p.Lys30722Glu)
c.73249A>G (p.Lys24417Glu)
c.73048A>G (p.Lys24350Glu)
c.72673A>G (p.Lys24225Glu)
c.99868A>G (p.Lys33290Glu)
c.94945A>G (p.Lys31649Glu)
n.446+13605T>C
n.317-120T>C
c.98965A>G (p.Lys32989Glu)
c.72859A>G (p.Lys24287Glu)
c.72718A>G (p.Lys24240Glu)
c.98761A>G (p.Lys32921Glu)
c.94159A>G (p.Lys31387Glu)
c.94156A>G (p.Lys31386Glu)
c.91198A>G (p.Lys30400Glu)
c.72814A>G (p.Lys24272Glu)
c.94309A>G (p.Lys31437Glu)
c.94306A>G (p.Lys31436Glu)
c.93739A>G (p.Lys31247Glu)
c.91081A>G (p.Lys30361Glu)
c.91000A>G (p.Lys30334Glu)
c.72763A>G (p.Lys24255Glu)
c.62617A>G (p.Lys20873Glu)
2g.178537241T>GCA349427265TTN,TTN-AS1c.92164A>C (p.Lys30722Gln)
c.73249A>C (p.Lys24417Gln)
c.73048A>C (p.Lys24350Gln)
c.72673A>C (p.Lys24225Gln)
c.99868A>C (p.Lys33290Gln)
c.94945A>C (p.Lys31649Gln)
n.446+13605T>G
n.317-120T>G
c.98965A>C (p.Lys32989Gln)
c.72859A>C (p.Lys24287Gln)
c.72718A>C (p.Lys24240Gln)
c.98761A>C (p.Lys32921Gln)
c.94159A>C (p.Lys31387Gln)
c.94156A>C (p.Lys31386Gln)
c.91198A>C (p.Lys30400Gln)
c.72814A>C (p.Lys24272Gln)
c.94309A>C (p.Lys31437Gln)
c.94306A>C (p.Lys31436Gln)
c.93739A>C (p.Lys31247Gln)
c.91081A>C (p.Lys30361Gln)
c.91000A>C (p.Lys30334Gln)
c.72763A>C (p.Lys24255Gln)
c.62617A>C (p.Lys20873Gln)
2g.178537242A=CA1310515338TTN,TTN-AS1c.92163T= (p.Asp30721=)
c.73248T= (p.Asp24416=)
c.73047T= (p.Asp24349=)
c.72672T= (p.Asp24224=)
c.99867T= (p.Asp33289=)
c.94944T= (p.Asp31648=)
n.446+13606A=
n.317-119A=
c.98964T= (p.Asp32988=)
c.72858T= (p.Asp24286=)
c.72717T= (p.Asp24239=)
c.98760T= (p.Asp32920=)
c.94158T= (p.Asp31386=)
c.94155T= (p.Asp31385=)
c.91197T= (p.Asp30399=)
c.72813T= (p.Asp24271=)
c.94308T= (p.Asp31436=)
c.94305T= (p.Asp31435=)
c.93738T= (p.Asp31246=)
c.91080T= (p.Asp30360=)
c.90999T= (p.Asp30333=)
c.72762T= (p.Asp24254=)
c.62616T= (p.Asp20872=)
2g.178537242A>CCA349427268TTN,TTN-AS1c.92163T>G (p.Asp30721Glu)
c.73248T>G (p.Asp24416Glu)
c.73047T>G (p.Asp24349Glu)
c.72672T>G (p.Asp24224Glu)
c.99867T>G (p.Asp33289Glu)
c.94944T>G (p.Asp31648Glu)
n.446+13606A>C
n.317-119A>C
c.98964T>G (p.Asp32988Glu)
c.72858T>G (p.Asp24286Glu)
c.72717T>G (p.Asp24239Glu)
c.98760T>G (p.Asp32920Glu)
c.94158T>G (p.Asp31386Glu)
c.94155T>G (p.Asp31385Glu)
c.91197T>G (p.Asp30399Glu)
c.72813T>G (p.Asp24271Glu)
c.94308T>G (p.Asp31436Glu)
c.94305T>G (p.Asp31435Glu)
c.93738T>G (p.Asp31246Glu)
c.91080T>G (p.Asp30360Glu)
c.90999T>G (p.Asp30333Glu)
c.72762T>G (p.Asp24254Glu)
c.62616T>G (p.Asp20872Glu)
2g.178537242A>GCA430239013TTN,TTN-AS1c.92163T>C (p.Asp30721=)
c.73248T>C (p.Asp24416=)
c.73047T>C (p.Asp24349=)
c.72672T>C (p.Asp24224=)
c.99867T>C (p.Asp33289=)
c.94944T>C (p.Asp31648=)
n.446+13606A>G
n.317-119A>G
c.98964T>C (p.Asp32988=)
c.72858T>C (p.Asp24286=)
c.72717T>C (p.Asp24239=)
c.98760T>C (p.Asp32920=)
c.94158T>C (p.Asp31386=)
c.94155T>C (p.Asp31385=)
c.91197T>C (p.Asp30399=)
c.72813T>C (p.Asp24271=)
c.94308T>C (p.Asp31436=)
c.94305T>C (p.Asp31435=)
c.93738T>C (p.Asp31246=)
c.91080T>C (p.Asp30360=)
c.90999T>C (p.Asp30333=)
c.72762T>C (p.Asp24254=)
c.62616T>C (p.Asp20872=)
 COSMIC COSMIC COSMIC COSMIC
2g.178537242A>TCA349427269TTN,TTN-AS1c.92163T>A (p.Asp30721Glu)
c.73248T>A (p.Asp24416Glu)
c.73047T>A (p.Asp24349Glu)
c.72672T>A (p.Asp24224Glu)
c.99867T>A (p.Asp33289Glu)
c.94944T>A (p.Asp31648Glu)
n.446+13606A>T
n.317-119A>T
c.98964T>A (p.Asp32988Glu)
c.72858T>A (p.Asp24286Glu)
c.72717T>A (p.Asp24239Glu)
c.98760T>A (p.Asp32920Glu)
c.94158T>A (p.Asp31386Glu)
c.94155T>A (p.Asp31385Glu)
c.91197T>A (p.Asp30399Glu)
c.72813T>A (p.Asp24271Glu)
c.94308T>A (p.Asp31436Glu)
c.94305T>A (p.Asp31435Glu)
c.93738T>A (p.Asp31246Glu)
c.91080T>A (p.Asp30360Glu)
c.90999T>A (p.Asp30333Glu)
c.72762T>A (p.Asp24254Glu)
c.62616T>A (p.Asp20872Glu)
 dbSNP gnomAD v4
2g.178537243T>ACA349427270TTN,TTN-AS1c.92162A>T (p.Asp30721Val)
c.73247A>T (p.Asp24416Val)
c.73046A>T (p.Asp24349Val)
c.72671A>T (p.Asp24224Val)
c.99866A>T (p.Asp33289Val)
c.94943A>T (p.Asp31648Val)
n.446+13607T>A
n.317-118T>A
c.98963A>T (p.Asp32988Val)
c.72857A>T (p.Asp24286Val)
c.72716A>T (p.Asp24239Val)
c.98759A>T (p.Asp32920Val)
c.94157A>T (p.Asp31386Val)
c.94154A>T (p.Asp31385Val)
c.91196A>T (p.Asp30399Val)
c.72812A>T (p.Asp24271Val)
c.94307A>T (p.Asp31436Val)
c.94304A>T (p.Asp31435Val)
c.93737A>T (p.Asp31246Val)
c.91079A>T (p.Asp30360Val)
c.90998A>T (p.Asp30333Val)
c.72761A>T (p.Asp24254Val)
c.62615A>T (p.Asp20872Val)
2g.178537243T>CCA349427271TTN,TTN-AS1c.92162A>G (p.Asp30721Gly)
c.73247A>G (p.Asp24416Gly)
c.73046A>G (p.Asp24349Gly)
c.72671A>G (p.Asp24224Gly)
c.99866A>G (p.Asp33289Gly)
c.94943A>G (p.Asp31648Gly)
n.446+13607T>C
n.317-118T>C
c.98963A>G (p.Asp32988Gly)
c.72857A>G (p.Asp24286Gly)
c.72716A>G (p.Asp24239Gly)
c.98759A>G (p.Asp32920Gly)
c.94157A>G (p.Asp31386Gly)
c.94154A>G (p.Asp31385Gly)
c.91196A>G (p.Asp30399Gly)
c.72812A>G (p.Asp24271Gly)
c.94307A>G (p.Asp31436Gly)
c.94304A>G (p.Asp31435Gly)
c.93737A>G (p.Asp31246Gly)
c.91079A>G (p.Asp30360Gly)
c.90998A>G (p.Asp30333Gly)
c.72761A>G (p.Asp24254Gly)
c.62615A>G (p.Asp20872Gly)
 gnomAD v4
2g.178537243T>GCA349427272TTN,TTN-AS1c.92162A>C (p.Asp30721Ala)
c.73247A>C (p.Asp24416Ala)
c.73046A>C (p.Asp24349Ala)
c.72671A>C (p.Asp24224Ala)
c.99866A>C (p.Asp33289Ala)
c.94943A>C (p.Asp31648Ala)
n.446+13607T>G
n.317-118T>G
c.98963A>C (p.Asp32988Ala)
c.72857A>C (p.Asp24286Ala)
c.72716A>C (p.Asp24239Ala)
c.98759A>C (p.Asp32920Ala)
c.94157A>C (p.Asp31386Ala)
c.94154A>C (p.Asp31385Ala)
c.91196A>C (p.Asp30399Ala)
c.72812A>C (p.Asp24271Ala)
c.94307A>C (p.Asp31436Ala)
c.94304A>C (p.Asp31435Ala)
c.93737A>C (p.Asp31246Ala)
c.91079A>C (p.Asp30360Ala)
c.90998A>C (p.Asp30333Ala)
c.72761A>C (p.Asp24254Ala)
c.62615A>C (p.Asp20872Ala)
2g.178537244C>ACA349427273TTN,TTN-AS1c.92162-1G>T (n.92162-1G>T)
c.73247-1G>T (n.73247-1G>T)
c.73046-1G>T (n.73046-1G>T)
c.72671-1G>T (n.72671-1G>T)
c.99866-1G>T (n.99866-1G>T)
c.94943-1G>T (n.94943-1G>T)
n.446+13608C>A
n.317-117C>A
c.98963-1G>T (n.98963-1G>T)
c.72857-1G>T (n.72857-1G>T)
c.72716-1G>T (n.72716-1G>T)
c.98759-1G>T (n.98759-1G>T)
c.94157-1G>T (n.94157-1G>T)
c.94154-1G>T (n.94154-1G>T)
c.91196-1G>T (n.91196-1G>T)
c.72812-1G>T (n.72812-1G>T)
c.94307-1G>T (n.94307-1G>T)
c.94304-1G>T (n.94304-1G>T)
c.93737-1G>T (n.93737-1G>T)
c.91079-1G>T (n.91079-1G>T)
c.90998-1G>T (n.90998-1G>T)
c.72761-1G>T (n.72761-1G>T)
c.62615-1G>T (n.62615-1G>T)
2g.178537244C=CA1310515340TTN,TTN-AS1c.92162-1G= (n.92162-1G=)
c.73247-1G= (n.73247-1G=)
c.73046-1G= (n.73046-1G=)
c.72671-1G= (n.72671-1G=)
c.99866-1G= (n.99866-1G=)
c.94943-1G= (n.94943-1G=)
n.446+13608C=
n.317-117C=
c.98963-1G= (n.98963-1G=)
c.72857-1G= (n.72857-1G=)
c.72716-1G= (n.72716-1G=)
c.98759-1G= (n.98759-1G=)
c.94157-1G= (n.94157-1G=)
c.94154-1G= (n.94154-1G=)
c.91196-1G= (n.91196-1G=)
c.72812-1G= (n.72812-1G=)
c.94307-1G= (n.94307-1G=)
c.94304-1G= (n.94304-1G=)
c.93737-1G= (n.93737-1G=)
c.91079-1G= (n.91079-1G=)
c.90998-1G= (n.90998-1G=)
c.72761-1G= (n.72761-1G=)
c.62615-1G= (n.62615-1G=)
2g.178537244C>GCA349427274TTN,TTN-AS1c.92162-1G>C (n.92162-1G>C)
c.73247-1G>C (n.73247-1G>C)
c.73046-1G>C (n.73046-1G>C)
c.72671-1G>C (n.72671-1G>C)
c.99866-1G>C (n.99866-1G>C)
c.94943-1G>C (n.94943-1G>C)
n.446+13608C>G
n.317-117C>G
c.98963-1G>C (n.98963-1G>C)
c.72857-1G>C (n.72857-1G>C)
c.72716-1G>C (n.72716-1G>C)
c.98759-1G>C (n.98759-1G>C)
c.94157-1G>C (n.94157-1G>C)
c.94154-1G>C (n.94154-1G>C)
c.91196-1G>C (n.91196-1G>C)
c.72812-1G>C (n.72812-1G>C)
c.94307-1G>C (n.94307-1G>C)
c.94304-1G>C (n.94304-1G>C)
c.93737-1G>C (n.93737-1G>C)
c.91079-1G>C (n.91079-1G>C)
c.90998-1G>C (n.90998-1G>C)
c.72761-1G>C (n.72761-1G>C)
c.62615-1G>C (n.62615-1G>C)
 COSMIC COSMIC COSMIC COSMIC
2g.178537244C>TCA10576454TTN,TTN-AS1c.92162-1G>A (n.92162-1G>A)
c.73247-1G>A (n.73247-1G>A)
c.73046-1G>A (n.73046-1G>A)
c.72671-1G>A (n.72671-1G>A)
c.99866-1G>A (n.99866-1G>A)
c.94943-1G>A (n.94943-1G>A)
n.446+13608C>T
n.317-117C>T
c.98963-1G>A (n.98963-1G>A)
c.72857-1G>A (n.72857-1G>A)
c.72716-1G>A (n.72716-1G>A)
c.98759-1G>A (n.98759-1G>A)
c.94157-1G>A (n.94157-1G>A)
c.94154-1G>A (n.94154-1G>A)
c.91196-1G>A (n.91196-1G>A)
c.72812-1G>A (n.72812-1G>A)
c.94307-1G>A (n.94307-1G>A)
c.94304-1G>A (n.94304-1G>A)
c.93737-1G>A (n.93737-1G>A)
c.91079-1G>A (n.91079-1G>A)
c.90998-1G>A (n.90998-1G>A)
c.72761-1G>A (n.72761-1G>A)
c.62615-1G>A (n.62615-1G>A)
 ClinVar dbSNP
2g.178537246_178537343delCA2753331357TTN,TTN-AS1c.92161+1_92162-1del
c.73246+1_73247-1del
c.73045+1_73046-1del
c.72670+1_72671-1del
c.99865+1_99866-1del
c.94942+1_94943-1del
n.446+13610_446+13707del
n.317-115_317-18del
c.98962+1_98963-1del
c.72856+1_72857-1del
c.72715+1_72716-1del
c.98758+1_98759-1del
c.94156+1_94157-1del
c.94153+1_94154-1del
c.91195+1_91196-1del
c.72811+1_72812-1del
c.94306+1_94307-1del
c.94303+1_94304-1del
c.93736+1_93737-1del
c.91078+1_91079-1del
c.90997+1_90998-1del
c.72760+1_72761-1del
c.62614+1_62615-1del
2g.178537245T>ACA349427275TTN,TTN-AS1c.92162-2A>T (n.92162-2A>T)
c.73247-2A>T (n.73247-2A>T)
c.73046-2A>T (n.73046-2A>T)
c.72671-2A>T (n.72671-2A>T)
c.99866-2A>T (n.99866-2A>T)
c.94943-2A>T (n.94943-2A>T)
n.446+13609T>A
n.317-116T>A
c.98963-2A>T (n.98963-2A>T)
c.72857-2A>T (n.72857-2A>T)
c.72716-2A>T (n.72716-2A>T)
c.98759-2A>T (n.98759-2A>T)
c.94157-2A>T (n.94157-2A>T)
c.94154-2A>T (n.94154-2A>T)
c.91196-2A>T (n.91196-2A>T)
c.72812-2A>T (n.72812-2A>T)
c.94307-2A>T (n.94307-2A>T)
c.94304-2A>T (n.94304-2A>T)
c.93737-2A>T (n.93737-2A>T)
c.91079-2A>T (n.91079-2A>T)
c.90998-2A>T (n.90998-2A>T)
c.72761-2A>T (n.72761-2A>T)
c.62615-2A>T (n.62615-2A>T)
2g.178537245T>CCA349427276TTN,TTN-AS1c.92162-2A>G (n.92162-2A>G)
c.73247-2A>G (n.73247-2A>G)
c.73046-2A>G (n.73046-2A>G)
c.72671-2A>G (n.72671-2A>G)
c.99866-2A>G (n.99866-2A>G)
c.94943-2A>G (n.94943-2A>G)
n.446+13609T>C
n.317-116T>C
c.98963-2A>G (n.98963-2A>G)
c.72857-2A>G (n.72857-2A>G)
c.72716-2A>G (n.72716-2A>G)
c.98759-2A>G (n.98759-2A>G)
c.94157-2A>G (n.94157-2A>G)
c.94154-2A>G (n.94154-2A>G)
c.91196-2A>G (n.91196-2A>G)
c.72812-2A>G (n.72812-2A>G)
c.94307-2A>G (n.94307-2A>G)
c.94304-2A>G (n.94304-2A>G)
c.93737-2A>G (n.93737-2A>G)
c.91079-2A>G (n.91079-2A>G)
c.90998-2A>G (n.90998-2A>G)
c.72761-2A>G (n.72761-2A>G)
c.62615-2A>G (n.62615-2A>G)
2g.178537245T>GCA349427277TTN,TTN-AS1c.92162-2A>C (n.92162-2A>C)
c.73247-2A>C (n.73247-2A>C)
c.73046-2A>C (n.73046-2A>C)
c.72671-2A>C (n.72671-2A>C)
c.99866-2A>C (n.99866-2A>C)
c.94943-2A>C (n.94943-2A>C)
n.446+13609T>G
n.317-116T>G
c.98963-2A>C (n.98963-2A>C)
c.72857-2A>C (n.72857-2A>C)
c.72716-2A>C (n.72716-2A>C)
c.98759-2A>C (n.98759-2A>C)
c.94157-2A>C (n.94157-2A>C)
c.94154-2A>C (n.94154-2A>C)
c.91196-2A>C (n.91196-2A>C)
c.72812-2A>C (n.72812-2A>C)
c.94307-2A>C (n.94307-2A>C)
c.94304-2A>C (n.94304-2A>C)
c.93737-2A>C (n.93737-2A>C)
c.91079-2A>C (n.91079-2A>C)
c.90998-2A>C (n.90998-2A>C)
c.72761-2A>C (n.72761-2A>C)
c.62615-2A>C (n.62615-2A>C)
2g.178537246G>ACA538435008TTN,TTN-AS1c.92162-3C>T (n.92162-3C>T)
c.73247-3C>T (n.73247-3C>T)
c.73046-3C>T (n.73046-3C>T)
c.72671-3C>T (n.72671-3C>T)
c.99866-3C>T (n.99866-3C>T)
c.94943-3C>T (n.94943-3C>T)
n.446+13610G>A
n.317-115G>A
c.98963-3C>T (n.98963-3C>T)
c.72857-3C>T (n.72857-3C>T)
c.72716-3C>T (n.72716-3C>T)
c.98759-3C>T (n.98759-3C>T)
c.94157-3C>T (n.94157-3C>T)
c.94154-3C>T (n.94154-3C>T)
c.91196-3C>T (n.91196-3C>T)
c.72812-3C>T (n.72812-3C>T)
c.94307-3C>T (n.94307-3C>T)
c.94304-3C>T (n.94304-3C>T)
c.93737-3C>T (n.93737-3C>T)
c.91079-3C>T (n.91079-3C>T)
c.90998-3C>T (n.90998-3C>T)
c.72761-3C>T (n.72761-3C>T)
c.62615-3C>T (n.62615-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537246G=CA1310515341TTN,TTN-AS1c.92162-3C= (n.92162-3C=)
c.73247-3C= (n.73247-3C=)
c.73046-3C= (n.73046-3C=)
c.72671-3C= (n.72671-3C=)
c.99866-3C= (n.99866-3C=)
c.94943-3C= (n.94943-3C=)
n.446+13610G=
n.317-115G=
c.98963-3C= (n.98963-3C=)
c.72857-3C= (n.72857-3C=)
c.72716-3C= (n.72716-3C=)
c.98759-3C= (n.98759-3C=)
c.94157-3C= (n.94157-3C=)
c.94154-3C= (n.94154-3C=)
c.91196-3C= (n.91196-3C=)
c.72812-3C= (n.72812-3C=)
c.94307-3C= (n.94307-3C=)
c.94304-3C= (n.94304-3C=)
c.93737-3C= (n.93737-3C=)
c.91079-3C= (n.91079-3C=)
c.90998-3C= (n.90998-3C=)
c.72761-3C= (n.72761-3C=)
c.62615-3C= (n.62615-3C=)
2g.178537249G>TCA2662127202TTN,TTN-AS1c.92162-6C>A (n.92162-6C>A)
c.73247-6C>A (n.73247-6C>A)
c.73046-6C>A (n.73046-6C>A)
c.72671-6C>A (n.72671-6C>A)
c.99866-6C>A (n.99866-6C>A)
c.94943-6C>A (n.94943-6C>A)
n.446+13613G>T
n.317-112G>T
c.98963-6C>A (n.98963-6C>A)
c.72857-6C>A (n.72857-6C>A)
c.72716-6C>A (n.72716-6C>A)
c.98759-6C>A (n.98759-6C>A)
c.94157-6C>A (n.94157-6C>A)
c.94154-6C>A (n.94154-6C>A)
c.91196-6C>A (n.91196-6C>A)
c.72812-6C>A (n.72812-6C>A)
c.94307-6C>A (n.94307-6C>A)
c.94304-6C>A (n.94304-6C>A)
c.93737-6C>A (n.93737-6C>A)
c.91079-6C>A (n.91079-6C>A)
c.90998-6C>A (n.90998-6C>A)
c.72761-6C>A (n.72761-6C>A)
c.62615-6C>A (n.62615-6C>A)
 gnomAD v4
2g.178537250G=CA1310515342TTN,TTN-AS1c.92162-7C= (n.92162-7C=)
c.73247-7C= (n.73247-7C=)
c.73046-7C= (n.73046-7C=)
c.72671-7C= (n.72671-7C=)
c.99866-7C= (n.99866-7C=)
c.94943-7C= (n.94943-7C=)
n.446+13614G=
n.317-111G=
c.98963-7C= (n.98963-7C=)
c.72857-7C= (n.72857-7C=)
c.72716-7C= (n.72716-7C=)
c.98759-7C= (n.98759-7C=)
c.94157-7C= (n.94157-7C=)
c.94154-7C= (n.94154-7C=)
c.91196-7C= (n.91196-7C=)
c.72812-7C= (n.72812-7C=)
c.94307-7C= (n.94307-7C=)
c.94304-7C= (n.94304-7C=)
c.93737-7C= (n.93737-7C=)
c.91079-7C= (n.91079-7C=)
c.90998-7C= (n.90998-7C=)
c.72761-7C= (n.72761-7C=)
c.62615-7C= (n.62615-7C=)
2g.178537250G>TCA1039713051TTN,TTN-AS1c.92162-7C>A (n.92162-7C>A)
c.73247-7C>A (n.73247-7C>A)
c.73046-7C>A (n.73046-7C>A)
c.72671-7C>A (n.72671-7C>A)
c.99866-7C>A (n.99866-7C>A)
c.94943-7C>A (n.94943-7C>A)
n.446+13614G>T
n.317-111G>T
c.98963-7C>A (n.98963-7C>A)
c.72857-7C>A (n.72857-7C>A)
c.72716-7C>A (n.72716-7C>A)
c.98759-7C>A (n.98759-7C>A)
c.94157-7C>A (n.94157-7C>A)
c.94154-7C>A (n.94154-7C>A)
c.91196-7C>A (n.91196-7C>A)
c.72812-7C>A (n.72812-7C>A)
c.94307-7C>A (n.94307-7C>A)
c.94304-7C>A (n.94304-7C>A)
c.93737-7C>A (n.93737-7C>A)
c.91079-7C>A (n.91079-7C>A)
c.90998-7C>A (n.90998-7C>A)
c.72761-7C>A (n.72761-7C>A)
c.62615-7C>A (n.62615-7C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.178537251G>ACA2577170522TTN,TTN-AS1c.92162-8C>T (n.92162-8C>T)
c.73247-8C>T (n.73247-8C>T)
c.73046-8C>T (n.73046-8C>T)
c.72671-8C>T (n.72671-8C>T)
c.99866-8C>T (n.99866-8C>T)
c.94943-8C>T (n.94943-8C>T)
n.446+13615G>A
n.317-110G>A
c.98963-8C>T (n.98963-8C>T)
c.72857-8C>T (n.72857-8C>T)
c.72716-8C>T (n.72716-8C>T)
c.98759-8C>T (n.98759-8C>T)
c.94157-8C>T (n.94157-8C>T)
c.94154-8C>T (n.94154-8C>T)
c.91196-8C>T (n.91196-8C>T)
c.72812-8C>T (n.72812-8C>T)
c.94307-8C>T (n.94307-8C>T)
c.94304-8C>T (n.94304-8C>T)
c.93737-8C>T (n.93737-8C>T)
c.91079-8C>T (n.91079-8C>T)
c.90998-8C>T (n.90998-8C>T)
c.72761-8C>T (n.72761-8C>T)
c.62615-8C>T (n.62615-8C>T)
2g.178537251G>TCA2662127203TTN,TTN-AS1c.92162-8C>A (n.92162-8C>A)
c.73247-8C>A (n.73247-8C>A)
c.73046-8C>A (n.73046-8C>A)
c.72671-8C>A (n.72671-8C>A)
c.99866-8C>A (n.99866-8C>A)
c.94943-8C>A (n.94943-8C>A)
n.446+13615G>T
n.317-110G>T
c.98963-8C>A (n.98963-8C>A)
c.72857-8C>A (n.72857-8C>A)
c.72716-8C>A (n.72716-8C>A)
c.98759-8C>A (n.98759-8C>A)
c.94157-8C>A (n.94157-8C>A)
c.94154-8C>A (n.94154-8C>A)
c.91196-8C>A (n.91196-8C>A)
c.72812-8C>A (n.72812-8C>A)
c.94307-8C>A (n.94307-8C>A)
c.94304-8C>A (n.94304-8C>A)
c.93737-8C>A (n.93737-8C>A)
c.91079-8C>A (n.91079-8C>A)
c.90998-8C>A (n.90998-8C>A)
c.72761-8C>A (n.72761-8C>A)
c.62615-8C>A (n.62615-8C>A)
 gnomAD v4
2g.178537252G>ACA2662127204TTN,TTN-AS1c.92162-9C>T (n.92162-9C>T)
c.73247-9C>T (n.73247-9C>T)
c.73046-9C>T (n.73046-9C>T)
c.72671-9C>T (n.72671-9C>T)
c.99866-9C>T (n.99866-9C>T)
c.94943-9C>T (n.94943-9C>T)
n.446+13616G>A
n.317-109G>A
c.98963-9C>T (n.98963-9C>T)
c.72857-9C>T (n.72857-9C>T)
c.72716-9C>T (n.72716-9C>T)
c.98759-9C>T (n.98759-9C>T)
c.94157-9C>T (n.94157-9C>T)
c.94154-9C>T (n.94154-9C>T)
c.91196-9C>T (n.91196-9C>T)
c.72812-9C>T (n.72812-9C>T)
c.94307-9C>T (n.94307-9C>T)
c.94304-9C>T (n.94304-9C>T)
c.93737-9C>T (n.93737-9C>T)
c.91079-9C>T (n.91079-9C>T)
c.90998-9C>T (n.90998-9C>T)
c.72761-9C>T (n.72761-9C>T)
c.62615-9C>T (n.62615-9C>T)
 gnomAD v4
2g.178537253G>ACA308974TTN,TTN-AS1c.92162-10C>T (n.92162-10C>T)
c.73247-10C>T (n.73247-10C>T)
c.73046-10C>T (n.73046-10C>T)
c.72671-10C>T (n.72671-10C>T)
c.99866-10C>T (n.99866-10C>T)
c.94943-10C>T (n.94943-10C>T)
n.446+13617G>A
n.317-108G>A
c.98963-10C>T (n.98963-10C>T)
c.72857-10C>T (n.72857-10C>T)
c.72716-10C>T (n.72716-10C>T)
c.98759-10C>T (n.98759-10C>T)
c.94157-10C>T (n.94157-10C>T)
c.94154-10C>T (n.94154-10C>T)
c.91196-10C>T (n.91196-10C>T)
c.72812-10C>T (n.72812-10C>T)
c.94307-10C>T (n.94307-10C>T)
c.94304-10C>T (n.94304-10C>T)
c.93737-10C>T (n.93737-10C>T)
c.91079-10C>T (n.91079-10C>T)
c.90998-10C>T (n.90998-10C>T)
c.72761-10C>T (n.72761-10C>T)
c.62615-10C>T (n.62615-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537253G=CA1310515343TTN,TTN-AS1c.92162-10C= (n.92162-10C=)
c.73247-10C= (n.73247-10C=)
c.73046-10C= (n.73046-10C=)
c.72671-10C= (n.72671-10C=)
c.99866-10C= (n.99866-10C=)
c.94943-10C= (n.94943-10C=)
n.446+13617G=
n.317-108G=
c.98963-10C= (n.98963-10C=)
c.72857-10C= (n.72857-10C=)
c.72716-10C= (n.72716-10C=)
c.98759-10C= (n.98759-10C=)
c.94157-10C= (n.94157-10C=)
c.94154-10C= (n.94154-10C=)
c.91196-10C= (n.91196-10C=)
c.72812-10C= (n.72812-10C=)
c.94307-10C= (n.94307-10C=)
c.94304-10C= (n.94304-10C=)
c.93737-10C= (n.93737-10C=)
c.91079-10C= (n.91079-10C=)
c.90998-10C= (n.90998-10C=)
c.72761-10C= (n.72761-10C=)
c.62615-10C= (n.62615-10C=)
2g.178537253G>TCA2662127206TTN,TTN-AS1c.92162-10C>A (n.92162-10C>A)
c.73247-10C>A (n.73247-10C>A)
c.73046-10C>A (n.73046-10C>A)
c.72671-10C>A (n.72671-10C>A)
c.99866-10C>A (n.99866-10C>A)
c.94943-10C>A (n.94943-10C>A)
n.446+13617G>T
n.317-108G>T
c.98963-10C>A (n.98963-10C>A)
c.72857-10C>A (n.72857-10C>A)
c.72716-10C>A (n.72716-10C>A)
c.98759-10C>A (n.98759-10C>A)
c.94157-10C>A (n.94157-10C>A)
c.94154-10C>A (n.94154-10C>A)
c.91196-10C>A (n.91196-10C>A)
c.72812-10C>A (n.72812-10C>A)
c.94307-10C>A (n.94307-10C>A)
c.94304-10C>A (n.94304-10C>A)
c.93737-10C>A (n.93737-10C>A)
c.91079-10C>A (n.91079-10C>A)
c.90998-10C>A (n.90998-10C>A)
c.72761-10C>A (n.72761-10C>A)
c.62615-10C>A (n.62615-10C>A)
 gnomAD v4
2g.178537254A=CA1310515345TTN,TTN-AS1c.92162-11T= (n.92162-11T=)
c.73247-11T= (n.73247-11T=)
c.73046-11T= (n.73046-11T=)
c.72671-11T= (n.72671-11T=)
c.99866-11T= (n.99866-11T=)
c.94943-11T= (n.94943-11T=)
n.446+13618A=
n.317-107A=
c.98963-11T= (n.98963-11T=)
c.72857-11T= (n.72857-11T=)
c.72716-11T= (n.72716-11T=)
c.98759-11T= (n.98759-11T=)
c.94157-11T= (n.94157-11T=)
c.94154-11T= (n.94154-11T=)
c.91196-11T= (n.91196-11T=)
c.72812-11T= (n.72812-11T=)
c.94307-11T= (n.94307-11T=)
c.94304-11T= (n.94304-11T=)
c.93737-11T= (n.93737-11T=)
c.91079-11T= (n.91079-11T=)
c.90998-11T= (n.90998-11T=)
c.72761-11T= (n.72761-11T=)
c.62615-11T= (n.62615-11T=)
2g.178537254A>CCA1986117TTN,TTN-AS1c.92162-11T>G (n.92162-11T>G)
c.73247-11T>G (n.73247-11T>G)
c.73046-11T>G (n.73046-11T>G)
c.72671-11T>G (n.72671-11T>G)
c.99866-11T>G (n.99866-11T>G)
c.94943-11T>G (n.94943-11T>G)
n.446+13618A>C
n.317-107A>C
c.98963-11T>G (n.98963-11T>G)
c.72857-11T>G (n.72857-11T>G)
c.72716-11T>G (n.72716-11T>G)
c.98759-11T>G (n.98759-11T>G)
c.94157-11T>G (n.94157-11T>G)
c.94154-11T>G (n.94154-11T>G)
c.91196-11T>G (n.91196-11T>G)
c.72812-11T>G (n.72812-11T>G)
c.94307-11T>G (n.94307-11T>G)
c.94304-11T>G (n.94304-11T>G)
c.93737-11T>G (n.93737-11T>G)
c.91079-11T>G (n.91079-11T>G)
c.90998-11T>G (n.90998-11T>G)
c.72761-11T>G (n.72761-11T>G)
c.62615-11T>G (n.62615-11T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537257delCA2662127207TTN,TTN-AS1c.92162-11del (n.92162-11del)
c.73247-11del (n.73247-11del)
c.73046-11del (n.73046-11del)
c.72671-11del (n.72671-11del)
c.99866-11del (n.99866-11del)
c.94943-11del (n.94943-11del)
n.446+13621del
n.317-104del
c.98963-11del (n.98963-11del)
c.72857-11del (n.72857-11del)
c.72716-11del (n.72716-11del)
c.98759-11del (n.98759-11del)
c.94157-11del (n.94157-11del)
c.94154-11del (n.94154-11del)
c.91196-11del (n.91196-11del)
c.72812-11del (n.72812-11del)
c.94307-11del (n.94307-11del)
c.94304-11del (n.94304-11del)
c.93737-11del (n.93737-11del)
c.91079-11del (n.91079-11del)
c.90998-11del (n.90998-11del)
c.72761-11del (n.72761-11del)
c.62615-11del (n.62615-11del)
 gnomAD v4
2g.178537255A>GCA2565682816TTN,TTN-AS1c.92162-12T>C (n.92162-12T>C)
c.73247-12T>C (n.73247-12T>C)
c.73046-12T>C (n.73046-12T>C)
c.72671-12T>C (n.72671-12T>C)
c.99866-12T>C (n.99866-12T>C)
c.94943-12T>C (n.94943-12T>C)
n.446+13619A>G
n.317-106A>G
c.98963-12T>C (n.98963-12T>C)
c.72857-12T>C (n.72857-12T>C)
c.72716-12T>C (n.72716-12T>C)
c.98759-12T>C (n.98759-12T>C)
c.94157-12T>C (n.94157-12T>C)
c.94154-12T>C (n.94154-12T>C)
c.91196-12T>C (n.91196-12T>C)
c.72812-12T>C (n.72812-12T>C)
c.94307-12T>C (n.94307-12T>C)
c.94304-12T>C (n.94304-12T>C)
c.93737-12T>C (n.93737-12T>C)
c.91079-12T>C (n.91079-12T>C)
c.90998-12T>C (n.90998-12T>C)
c.72761-12T>C (n.72761-12T>C)
c.62615-12T>C (n.62615-12T>C)
2g.178537256A>GCA2662127209TTN,TTN-AS1c.92162-13T>C (n.92162-13T>C)
c.73247-13T>C (n.73247-13T>C)
c.73046-13T>C (n.73046-13T>C)
c.72671-13T>C (n.72671-13T>C)
c.99866-13T>C (n.99866-13T>C)
c.94943-13T>C (n.94943-13T>C)
n.446+13620A>G
n.317-105A>G
c.98963-13T>C (n.98963-13T>C)
c.72857-13T>C (n.72857-13T>C)
c.72716-13T>C (n.72716-13T>C)
c.98759-13T>C (n.98759-13T>C)
c.94157-13T>C (n.94157-13T>C)
c.94154-13T>C (n.94154-13T>C)
c.91196-13T>C (n.91196-13T>C)
c.72812-13T>C (n.72812-13T>C)
c.94307-13T>C (n.94307-13T>C)
c.94304-13T>C (n.94304-13T>C)
c.93737-13T>C (n.93737-13T>C)
c.91079-13T>C (n.91079-13T>C)
c.90998-13T>C (n.90998-13T>C)
c.72761-13T>C (n.72761-13T>C)
c.62615-13T>C (n.62615-13T>C)
 gnomAD v4
2g.178537257_178537259delCA2662127208TTN,TTN-AS1c.92162-15_92162-13del (n.92162-15_92162-13del)
c.73247-15_73247-13del (n.73247-15_73247-13del)
c.73046-15_73046-13del (n.73046-15_73046-13del)
c.72671-15_72671-13del (n.72671-15_72671-13del)
c.99866-15_99866-13del (n.99866-15_99866-13del)
c.94943-15_94943-13del (n.94943-15_94943-13del)
n.446+13621_446+13623del
n.317-104_317-102del
c.98963-15_98963-13del (n.98963-15_98963-13del)
c.72857-15_72857-13del (n.72857-15_72857-13del)
c.72716-15_72716-13del (n.72716-15_72716-13del)
c.98759-15_98759-13del (n.98759-15_98759-13del)
c.94157-15_94157-13del (n.94157-15_94157-13del)
c.94154-15_94154-13del (n.94154-15_94154-13del)
c.91196-15_91196-13del (n.91196-15_91196-13del)
c.72812-15_72812-13del (n.72812-15_72812-13del)
c.94307-15_94307-13del (n.94307-15_94307-13del)
c.94304-15_94304-13del (n.94304-15_94304-13del)
c.93737-15_93737-13del (n.93737-15_93737-13del)
c.91079-15_91079-13del (n.91079-15_91079-13del)
c.90998-15_90998-13del (n.90998-15_90998-13del)
c.72761-15_72761-13del (n.72761-15_72761-13del)
c.62615-15_62615-13del (n.62615-15_62615-13del)
 gnomAD v4
2g.178537260C>ACA647478665TTN,TTN-AS1c.92162-17G>T (n.92162-17G>T)
c.73247-17G>T (n.73247-17G>T)
c.73046-17G>T (n.73046-17G>T)
c.72671-17G>T (n.72671-17G>T)
c.99866-17G>T (n.99866-17G>T)
c.94943-17G>T (n.94943-17G>T)
n.446+13624C>A
n.317-101C>A
c.98963-17G>T (n.98963-17G>T)
c.72857-17G>T (n.72857-17G>T)
c.72716-17G>T (n.72716-17G>T)
c.98759-17G>T (n.98759-17G>T)
c.94157-17G>T (n.94157-17G>T)
c.94154-17G>T (n.94154-17G>T)
c.91196-17G>T (n.91196-17G>T)
c.72812-17G>T (n.72812-17G>T)
c.94307-17G>T (n.94307-17G>T)
c.94304-17G>T (n.94304-17G>T)
c.93737-17G>T (n.93737-17G>T)
c.91079-17G>T (n.91079-17G>T)
c.90998-17G>T (n.90998-17G>T)
c.72761-17G>T (n.72761-17G>T)
c.62615-17G>T (n.62615-17G>T)
 COSMIC
2g.178537260C>TCA2662127210TTN,TTN-AS1c.92162-17G>A (n.92162-17G>A)
c.73247-17G>A (n.73247-17G>A)
c.73046-17G>A (n.73046-17G>A)
c.72671-17G>A (n.72671-17G>A)
c.99866-17G>A (n.99866-17G>A)
c.94943-17G>A (n.94943-17G>A)
n.446+13624C>T
n.317-101C>T
c.98963-17G>A (n.98963-17G>A)
c.72857-17G>A (n.72857-17G>A)
c.72716-17G>A (n.72716-17G>A)
c.98759-17G>A (n.98759-17G>A)
c.94157-17G>A (n.94157-17G>A)
c.94154-17G>A (n.94154-17G>A)
c.91196-17G>A (n.91196-17G>A)
c.72812-17G>A (n.72812-17G>A)
c.94307-17G>A (n.94307-17G>A)
c.94304-17G>A (n.94304-17G>A)
c.93737-17G>A (n.93737-17G>A)
c.91079-17G>A (n.91079-17G>A)
c.90998-17G>A (n.90998-17G>A)
c.72761-17G>A (n.72761-17G>A)
c.62615-17G>A (n.62615-17G>A)
 gnomAD v4
2g.178537263T>CCA60961386TTN,TTN-AS1c.92162-20A>G (n.92162-20A>G)
c.73247-20A>G (n.73247-20A>G)
c.73046-20A>G (n.73046-20A>G)
c.72671-20A>G (n.72671-20A>G)
c.99866-20A>G (n.99866-20A>G)
c.94943-20A>G (n.94943-20A>G)
n.446+13627T>C
n.317-98T>C
c.98963-20A>G (n.98963-20A>G)
c.72857-20A>G (n.72857-20A>G)
c.72716-20A>G (n.72716-20A>G)
c.98759-20A>G (n.98759-20A>G)
c.94157-20A>G (n.94157-20A>G)
c.94154-20A>G (n.94154-20A>G)
c.91196-20A>G (n.91196-20A>G)
c.72812-20A>G (n.72812-20A>G)
c.94307-20A>G (n.94307-20A>G)
c.94304-20A>G (n.94304-20A>G)
c.93737-20A>G (n.93737-20A>G)
c.91079-20A>G (n.91079-20A>G)
c.90998-20A>G (n.90998-20A>G)
c.72761-20A>G (n.72761-20A>G)
c.62615-20A>G (n.62615-20A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178537263T=CA1310515347TTN,TTN-AS1c.92162-20A= (n.92162-20A=)
c.73247-20A= (n.73247-20A=)
c.73046-20A= (n.73046-20A=)
c.72671-20A= (n.72671-20A=)
c.99866-20A= (n.99866-20A=)
c.94943-20A= (n.94943-20A=)
n.446+13627T=
n.317-98T=
c.98963-20A= (n.98963-20A=)
c.72857-20A= (n.72857-20A=)
c.72716-20A= (n.72716-20A=)
c.98759-20A= (n.98759-20A=)
c.94157-20A= (n.94157-20A=)
c.94154-20A= (n.94154-20A=)
c.91196-20A= (n.91196-20A=)
c.72812-20A= (n.72812-20A=)
c.94307-20A= (n.94307-20A=)
c.94304-20A= (n.94304-20A=)
c.93737-20A= (n.93737-20A=)
c.91079-20A= (n.91079-20A=)
c.90998-20A= (n.90998-20A=)
c.72761-20A= (n.72761-20A=)
c.62615-20A= (n.62615-20A=)
2g.178537264_178537267delinsTGTGCA1310515348TTN,TTN-AS1c.92162-24_92162-21delinsCACA (n.92162-24_92162-21delinsCACA)
c.73247-24_73247-21delinsCACA (n.73247-24_73247-21delinsCACA)
c.73046-24_73046-21delinsCACA (n.73046-24_73046-21delinsCACA)
c.72671-24_72671-21delinsCACA (n.72671-24_72671-21delinsCACA)
c.99866-24_99866-21delinsCACA (n.99866-24_99866-21delinsCACA)
c.94943-24_94943-21delinsCACA (n.94943-24_94943-21delinsCACA)
n.446+13628_446+13631delinsTGTG
n.317-97_317-94delinsTGTG
c.98963-24_98963-21delinsCACA (n.98963-24_98963-21delinsCACA)
c.72857-24_72857-21delinsCACA (n.72857-24_72857-21delinsCACA)
c.72716-24_72716-21delinsCACA (n.72716-24_72716-21delinsCACA)
c.98759-24_98759-21delinsCACA (n.98759-24_98759-21delinsCACA)
c.94157-24_94157-21delinsCACA (n.94157-24_94157-21delinsCACA)
c.94154-24_94154-21delinsCACA (n.94154-24_94154-21delinsCACA)
c.91196-24_91196-21delinsCACA (n.91196-24_91196-21delinsCACA)
c.72812-24_72812-21delinsCACA (n.72812-24_72812-21delinsCACA)
c.94307-24_94307-21delinsCACA (n.94307-24_94307-21delinsCACA)
c.94304-24_94304-21delinsCACA (n.94304-24_94304-21delinsCACA)
c.93737-24_93737-21delinsCACA (n.93737-24_93737-21delinsCACA)
c.91079-24_91079-21delinsCACA (n.91079-24_91079-21delinsCACA)
c.90998-24_90998-21delinsCACA (n.90998-24_90998-21delinsCACA)
c.72761-24_72761-21delinsCACA (n.72761-24_72761-21delinsCACA)
c.62615-24_62615-21delinsCACA (n.62615-24_62615-21delinsCACA)
2g.178537265G>ACA2701299935TTN,TTN-AS1c.92162-22C>T (n.92162-22C>T)
c.73247-22C>T (n.73247-22C>T)
c.73046-22C>T (n.73046-22C>T)
c.72671-22C>T (n.72671-22C>T)
c.99866-22C>T (n.99866-22C>T)
c.94943-22C>T (n.94943-22C>T)
n.446+13629G>A
n.317-96G>A
c.98963-22C>T (n.98963-22C>T)
c.72857-22C>T (n.72857-22C>T)
c.72716-22C>T (n.72716-22C>T)
c.98759-22C>T (n.98759-22C>T)
c.94157-22C>T (n.94157-22C>T)
c.94154-22C>T (n.94154-22C>T)
c.91196-22C>T (n.91196-22C>T)
c.72812-22C>T (n.72812-22C>T)
c.94307-22C>T (n.94307-22C>T)
c.94304-22C>T (n.94304-22C>T)
c.93737-22C>T (n.93737-22C>T)
c.91079-22C>T (n.91079-22C>T)
c.90998-22C>T (n.90998-22C>T)
c.72761-22C>T (n.72761-22C>T)
c.62615-22C>T (n.62615-22C>T)
 dbSNP
2g.178537270_178537272delCA538435009TTN,TTN-AS1c.92162-24_92162-22del (n.92162-24_92162-22del)
c.73247-24_73247-22del (n.73247-24_73247-22del)
c.73046-24_73046-22del (n.73046-24_73046-22del)
c.72671-24_72671-22del (n.72671-24_72671-22del)
c.99866-24_99866-22del (n.99866-24_99866-22del)
c.94943-24_94943-22del (n.94943-24_94943-22del)
n.446+13634_446+13636del
n.317-91_317-89del
c.98963-24_98963-22del (n.98963-24_98963-22del)
c.72857-24_72857-22del (n.72857-24_72857-22del)
c.72716-24_72716-22del (n.72716-24_72716-22del)
c.98759-24_98759-22del (n.98759-24_98759-22del)
c.94157-24_94157-22del (n.94157-24_94157-22del)
c.94154-24_94154-22del (n.94154-24_94154-22del)
c.91196-24_91196-22del (n.91196-24_91196-22del)
c.72812-24_72812-22del (n.72812-24_72812-22del)
c.94307-24_94307-22del (n.94307-24_94307-22del)
c.94304-24_94304-22del (n.94304-24_94304-22del)
c.93737-24_93737-22del (n.93737-24_93737-22del)
c.91079-24_91079-22del (n.91079-24_91079-22del)
c.90998-24_90998-22del (n.90998-24_90998-22del)
c.72761-24_72761-22del (n.72761-24_72761-22del)
c.62615-24_62615-22del (n.62615-24_62615-22del)
 dbSNP gnomAD v2 gnomAD v4
2g.178537267G>TCA2662127211TTN,TTN-AS1c.92162-24C>A (n.92162-24C>A)
c.73247-24C>A (n.73247-24C>A)
c.73046-24C>A (n.73046-24C>A)
c.72671-24C>A (n.72671-24C>A)
c.99866-24C>A (n.99866-24C>A)
c.94943-24C>A (n.94943-24C>A)
n.446+13631G>T
n.317-94G>T
c.98963-24C>A (n.98963-24C>A)
c.72857-24C>A (n.72857-24C>A)
c.72716-24C>A (n.72716-24C>A)
c.98759-24C>A (n.98759-24C>A)
c.94157-24C>A (n.94157-24C>A)
c.94154-24C>A (n.94154-24C>A)
c.91196-24C>A (n.91196-24C>A)
c.72812-24C>A (n.72812-24C>A)
c.94307-24C>A (n.94307-24C>A)
c.94304-24C>A (n.94304-24C>A)
c.93737-24C>A (n.93737-24C>A)
c.91079-24C>A (n.91079-24C>A)
c.90998-24C>A (n.90998-24C>A)
c.72761-24C>A (n.72761-24C>A)
c.62615-24C>A (n.62615-24C>A)
 gnomAD v4
2g.178537267_178537268insTTGGCA2753331366TTN,TTN-AS1c.92162-24_92162-23insCAAC (n.92162-24_92162-23insCAAC)
c.73247-24_73247-23insCAAC (n.73247-24_73247-23insCAAC)
c.73046-24_73046-23insCAAC (n.73046-24_73046-23insCAAC)
c.72671-24_72671-23insCAAC (n.72671-24_72671-23insCAAC)
c.99866-24_99866-23insCAAC (n.99866-24_99866-23insCAAC)
c.94943-24_94943-23insCAAC (n.94943-24_94943-23insCAAC)
n.446+13631_446+13632insTTGG
n.317-94_317-93insTTGG
c.98963-24_98963-23insCAAC (n.98963-24_98963-23insCAAC)
c.72857-24_72857-23insCAAC (n.72857-24_72857-23insCAAC)
c.72716-24_72716-23insCAAC (n.72716-24_72716-23insCAAC)
c.98759-24_98759-23insCAAC (n.98759-24_98759-23insCAAC)
c.94157-24_94157-23insCAAC (n.94157-24_94157-23insCAAC)
c.94154-24_94154-23insCAAC (n.94154-24_94154-23insCAAC)
c.91196-24_91196-23insCAAC (n.91196-24_91196-23insCAAC)
c.72812-24_72812-23insCAAC (n.72812-24_72812-23insCAAC)
c.94307-24_94307-23insCAAC (n.94307-24_94307-23insCAAC)
c.94304-24_94304-23insCAAC (n.94304-24_94304-23insCAAC)
c.93737-24_93737-23insCAAC (n.93737-24_93737-23insCAAC)
c.91079-24_91079-23insCAAC (n.91079-24_91079-23insCAAC)
c.90998-24_90998-23insCAAC (n.90998-24_90998-23insCAAC)
c.72761-24_72761-23insCAAC (n.72761-24_72761-23insCAAC)
c.62615-24_62615-23insCAAC (n.62615-24_62615-23insCAAC)
2g.178537268G>ACA538435010TTN,TTN-AS1c.92162-25C>T (n.92162-25C>T)
c.73247-25C>T (n.73247-25C>T)
c.73046-25C>T (n.73046-25C>T)
c.72671-25C>T (n.72671-25C>T)
c.99866-25C>T (n.99866-25C>T)
c.94943-25C>T (n.94943-25C>T)
n.446+13632G>A
n.317-93G>A
c.98963-25C>T (n.98963-25C>T)
c.72857-25C>T (n.72857-25C>T)
c.72716-25C>T (n.72716-25C>T)
c.98759-25C>T (n.98759-25C>T)
c.94157-25C>T (n.94157-25C>T)
c.94154-25C>T (n.94154-25C>T)
c.91196-25C>T (n.91196-25C>T)
c.72812-25C>T (n.72812-25C>T)
c.94307-25C>T (n.94307-25C>T)
c.94304-25C>T (n.94304-25C>T)
c.93737-25C>T (n.93737-25C>T)
c.91079-25C>T (n.91079-25C>T)
c.90998-25C>T (n.90998-25C>T)
c.72761-25C>T (n.72761-25C>T)
c.62615-25C>T (n.62615-25C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.178537268G=CA1310515350TTN,TTN-AS1c.92162-25C= (n.92162-25C=)
c.73247-25C= (n.73247-25C=)
c.73046-25C= (n.73046-25C=)
c.72671-25C= (n.72671-25C=)
c.99866-25C= (n.99866-25C=)
c.94943-25C= (n.94943-25C=)
n.446+13632G=
n.317-93G=
c.98963-25C= (n.98963-25C=)
c.72857-25C= (n.72857-25C=)
c.72716-25C= (n.72716-25C=)
c.98759-25C= (n.98759-25C=)
c.94157-25C= (n.94157-25C=)
c.94154-25C= (n.94154-25C=)
c.91196-25C= (n.91196-25C=)
c.72812-25C= (n.72812-25C=)
c.94307-25C= (n.94307-25C=)
c.94304-25C= (n.94304-25C=)
c.93737-25C= (n.93737-25C=)
c.91079-25C= (n.91079-25C=)
c.90998-25C= (n.90998-25C=)
c.72761-25C= (n.72761-25C=)
c.62615-25C= (n.62615-25C=)
2g.178537270G>ACA1986118TTN,TTN-AS1c.92162-27C>T (n.92162-27C>T)
c.73247-27C>T (n.73247-27C>T)
c.73046-27C>T (n.73046-27C>T)
c.72671-27C>T (n.72671-27C>T)
c.99866-27C>T (n.99866-27C>T)
c.94943-27C>T (n.94943-27C>T)
n.446+13634G>A
n.317-91G>A
c.98963-27C>T (n.98963-27C>T)
c.72857-27C>T (n.72857-27C>T)
c.72716-27C>T (n.72716-27C>T)
c.98759-27C>T (n.98759-27C>T)
c.94157-27C>T (n.94157-27C>T)
c.94154-27C>T (n.94154-27C>T)
c.91196-27C>T (n.91196-27C>T)
c.72812-27C>T (n.72812-27C>T)
c.94307-27C>T (n.94307-27C>T)
c.94304-27C>T (n.94304-27C>T)
c.93737-27C>T (n.93737-27C>T)
c.91079-27C>T (n.91079-27C>T)
c.90998-27C>T (n.90998-27C>T)
c.72761-27C>T (n.72761-27C>T)
c.62615-27C>T (n.62615-27C>T)
 dbSNP ExAC gnomAD v4
2g.178537270G=CA1310515351TTN,TTN-AS1c.92162-27C= (n.92162-27C=)
c.73247-27C= (n.73247-27C=)
c.73046-27C= (n.73046-27C=)
c.72671-27C= (n.72671-27C=)
c.99866-27C= (n.99866-27C=)
c.94943-27C= (n.94943-27C=)
n.446+13634G=
n.317-91G=
c.98963-27C= (n.98963-27C=)
c.72857-27C= (n.72857-27C=)
c.72716-27C= (n.72716-27C=)
c.98759-27C= (n.98759-27C=)
c.94157-27C= (n.94157-27C=)
c.94154-27C= (n.94154-27C=)
c.91196-27C= (n.91196-27C=)
c.72812-27C= (n.72812-27C=)
c.94307-27C= (n.94307-27C=)
c.94304-27C= (n.94304-27C=)
c.93737-27C= (n.93737-27C=)
c.91079-27C= (n.91079-27C=)
c.90998-27C= (n.90998-27C=)
c.72761-27C= (n.72761-27C=)
c.62615-27C= (n.62615-27C=)
2g.178537270G>TCA2662127212TTN,TTN-AS1c.92162-27C>A (n.92162-27C>A)
c.73247-27C>A (n.73247-27C>A)
c.73046-27C>A (n.73046-27C>A)
c.72671-27C>A (n.72671-27C>A)
c.99866-27C>A (n.99866-27C>A)
c.94943-27C>A (n.94943-27C>A)
n.446+13634G>T
n.317-91G>T
c.98963-27C>A (n.98963-27C>A)
c.72857-27C>A (n.72857-27C>A)
c.72716-27C>A (n.72716-27C>A)
c.98759-27C>A (n.98759-27C>A)
c.94157-27C>A (n.94157-27C>A)
c.94154-27C>A (n.94154-27C>A)
c.91196-27C>A (n.91196-27C>A)
c.72812-27C>A (n.72812-27C>A)
c.94307-27C>A (n.94307-27C>A)
c.94304-27C>A (n.94304-27C>A)
c.93737-27C>A (n.93737-27C>A)
c.91079-27C>A (n.91079-27C>A)
c.90998-27C>A (n.90998-27C>A)
c.72761-27C>A (n.72761-27C>A)
c.62615-27C>A (n.62615-27C>A)
 gnomAD v4
2g.178537270_178537271insTCA2753331368TTN,TTN-AS1c.92162-28_92162-27insA (n.92162-28_92162-27insA)
c.73247-28_73247-27insA (n.73247-28_73247-27insA)
c.73046-28_73046-27insA (n.73046-28_73046-27insA)
c.72671-28_72671-27insA (n.72671-28_72671-27insA)
c.99866-28_99866-27insA (n.99866-28_99866-27insA)
c.94943-28_94943-27insA (n.94943-28_94943-27insA)
n.446+13634_446+13635insT
n.317-91_317-90insT
c.98963-28_98963-27insA (n.98963-28_98963-27insA)
c.72857-28_72857-27insA (n.72857-28_72857-27insA)
c.72716-28_72716-27insA (n.72716-28_72716-27insA)
c.98759-28_98759-27insA (n.98759-28_98759-27insA)
c.94157-28_94157-27insA (n.94157-28_94157-27insA)
c.94154-28_94154-27insA (n.94154-28_94154-27insA)
c.91196-28_91196-27insA (n.91196-28_91196-27insA)
c.72812-28_72812-27insA (n.72812-28_72812-27insA)
c.94307-28_94307-27insA (n.94307-28_94307-27insA)
c.94304-28_94304-27insA (n.94304-28_94304-27insA)
c.93737-28_93737-27insA (n.93737-28_93737-27insA)
c.91079-28_91079-27insA (n.91079-28_91079-27insA)
c.90998-28_90998-27insA (n.90998-28_90998-27insA)
c.72761-28_72761-27insA (n.72761-28_72761-27insA)
c.62615-28_62615-27insA (n.62615-28_62615-27insA)
2g.178537271G>ACA1310515353TTN,TTN-AS1c.92162-28C>T (n.92162-28C>T)
c.73247-28C>T (n.73247-28C>T)
c.73046-28C>T (n.73046-28C>T)
c.72671-28C>T (n.72671-28C>T)
c.99866-28C>T (n.99866-28C>T)
c.94943-28C>T (n.94943-28C>T)
n.446+13635G>A
n.317-90G>A
c.98963-28C>T (n.98963-28C>T)
c.72857-28C>T (n.72857-28C>T)
c.72716-28C>T (n.72716-28C>T)
c.98759-28C>T (n.98759-28C>T)
c.94157-28C>T (n.94157-28C>T)
c.94154-28C>T (n.94154-28C>T)
c.91196-28C>T (n.91196-28C>T)
c.72812-28C>T (n.72812-28C>T)
c.94307-28C>T (n.94307-28C>T)
c.94304-28C>T (n.94304-28C>T)
c.93737-28C>T (n.93737-28C>T)
c.91079-28C>T (n.91079-28C>T)
c.90998-28C>T (n.90998-28C>T)
c.72761-28C>T (n.72761-28C>T)
c.62615-28C>T (n.62615-28C>T)
 dbSNP
2g.178537271G=CA1310515352TTN,TTN-AS1c.92162-28C= (n.92162-28C=)
c.73247-28C= (n.73247-28C=)
c.73046-28C= (n.73046-28C=)
c.72671-28C= (n.72671-28C=)
c.99866-28C= (n.99866-28C=)
c.94943-28C= (n.94943-28C=)
n.446+13635G=
n.317-90G=
c.98963-28C= (n.98963-28C=)
c.72857-28C= (n.72857-28C=)
c.72716-28C= (n.72716-28C=)
c.98759-28C= (n.98759-28C=)
c.94157-28C= (n.94157-28C=)
c.94154-28C= (n.94154-28C=)
c.91196-28C= (n.91196-28C=)
c.72812-28C= (n.72812-28C=)
c.94307-28C= (n.94307-28C=)
c.94304-28C= (n.94304-28C=)
c.93737-28C= (n.93737-28C=)
c.91079-28C= (n.91079-28C=)
c.90998-28C= (n.90998-28C=)
c.72761-28C= (n.72761-28C=)
c.62615-28C= (n.62615-28C=)

Number of alleles fetched