Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178537171T>A | CA349427116 | TTN,TTN-AS1 | c.92234A>T (p.Lys30745Ile) c.73319A>T (p.Lys24440Ile) c.73118A>T (p.Lys24373Ile) c.72743A>T (p.Lys24248Ile) c.99938A>T (p.Lys33313Ile) c.95015A>T (p.Lys31672Ile) n.446+13535T>A n.317-190T>A c.99035A>T (p.Lys33012Ile) c.72929A>T (p.Lys24310Ile) c.72788A>T (p.Lys24263Ile) c.98831A>T (p.Lys32944Ile) c.94229A>T (p.Lys31410Ile) c.94226A>T (p.Lys31409Ile) c.91268A>T (p.Lys30423Ile) c.72884A>T (p.Lys24295Ile) c.94379A>T (p.Lys31460Ile) c.94376A>T (p.Lys31459Ile) c.93809A>T (p.Lys31270Ile) c.91151A>T (p.Lys30384Ile) c.91070A>T (p.Lys30357Ile) c.72833A>T (p.Lys24278Ile) c.62687A>T (p.Lys20896Ile) | |
2 | g.178537171T>C | CA349427115 | TTN,TTN-AS1 | c.92234A>G (p.Lys30745Arg) c.73319A>G (p.Lys24440Arg) c.73118A>G (p.Lys24373Arg) c.72743A>G (p.Lys24248Arg) c.99938A>G (p.Lys33313Arg) c.95015A>G (p.Lys31672Arg) n.446+13535T>C n.317-190T>C c.99035A>G (p.Lys33012Arg) c.72929A>G (p.Lys24310Arg) c.72788A>G (p.Lys24263Arg) c.98831A>G (p.Lys32944Arg) c.94229A>G (p.Lys31410Arg) c.94226A>G (p.Lys31409Arg) c.91268A>G (p.Lys30423Arg) c.72884A>G (p.Lys24295Arg) c.94379A>G (p.Lys31460Arg) c.94376A>G (p.Lys31459Arg) c.93809A>G (p.Lys31270Arg) c.91151A>G (p.Lys30384Arg) c.91070A>G (p.Lys30357Arg) c.72833A>G (p.Lys24278Arg) c.62687A>G (p.Lys20896Arg) | |
2 | g.178537171T>G | CA349427114 | TTN,TTN-AS1 | c.92234A>C (p.Lys30745Thr) c.73319A>C (p.Lys24440Thr) c.73118A>C (p.Lys24373Thr) c.72743A>C (p.Lys24248Thr) c.99938A>C (p.Lys33313Thr) c.95015A>C (p.Lys31672Thr) n.446+13535T>G n.317-190T>G c.99035A>C (p.Lys33012Thr) c.72929A>C (p.Lys24310Thr) c.72788A>C (p.Lys24263Thr) c.98831A>C (p.Lys32944Thr) c.94229A>C (p.Lys31410Thr) c.94226A>C (p.Lys31409Thr) c.91268A>C (p.Lys30423Thr) c.72884A>C (p.Lys24295Thr) c.94379A>C (p.Lys31460Thr) c.94376A>C (p.Lys31459Thr) c.93809A>C (p.Lys31270Thr) c.91151A>C (p.Lys30384Thr) c.91070A>C (p.Lys30357Thr) c.72833A>C (p.Lys24278Thr) c.62687A>C (p.Lys20896Thr) | |
2 | g.178537172T>A | CA349427117 | TTN,TTN-AS1 | c.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) | |
2 | g.178537172T>C | CA349427118 | TTN,TTN-AS1 | c.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) | |
2 | g.178537172T>G | CA349427119 | TTN,TTN-AS1 | c.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) | |
2 | g.178537173C>A | CA349427120 | TTN,TTN-AS1 | c.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) | |
2 | g.178537173C= | CA1310515282 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537173C>G | CA349427121 | TTN,TTN-AS1 | c.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) | |
2 | g.178537173C>T | CA349427122 | TTN,TTN-AS1 | c.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 |
2 | g.178537174C>A | CA349427123 | TTN,TTN-AS1 | c.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) | |
2 | g.178537174C>G | CA349427125 | TTN,TTN-AS1 | c.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) | |
2 | g.178537174C>T | CA349427124 | TTN,TTN-AS1 | c.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 |
2 | g.178537175A>C | CA349427126 | TTN,TTN-AS1 | c.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) | |
2 | g.178537175A>G | CA349427127 | TTN,TTN-AS1 | c.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) | |
2 | g.178537175A>T | CA349427128 | TTN,TTN-AS1 | c.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) | |
2 | g.178537176G>A | CA1986106 | TTN,TTN-AS1 | c.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 |
2 | g.178537176G>C | CA349427129 | TTN,TTN-AS1 | c.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) | |
2 | g.178537176G= | CA1310515284 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537176G>T | CA349427130 | TTN,TTN-AS1 | c.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) | |
2 | g.178537177C>A | CA349427131 | TTN,TTN-AS1 | c.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) | |
2 | g.178537177C>G | CA349427132 | TTN,TTN-AS1 | c.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) | |
2 | g.178537177C>T | CA349427133 | TTN,TTN-AS1 | c.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) | |
2 | g.178537178T>A | CA349427134 | TTN,TTN-AS1 | c.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) | |
2 | g.178537178T>C | CA349427135 | TTN,TTN-AS1 | c.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 |
2 | g.178537178T>G | CA349427136 | TTN,TTN-AS1 | c.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) | |
2 | g.178537179G>A | CA430238884 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537179G>C | CA349427137 | TTN,TTN-AS1 | c.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) | |
2 | g.178537179G>T | CA430238885 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537180A>C | CA349427140 | TTN,TTN-AS1 | c.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) | |
2 | g.178537180A>G | CA349427138 | TTN,TTN-AS1 | c.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) | |
2 | g.178537180A>T | CA349427139 | TTN,TTN-AS1 | c.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) | |
2 | g.178537181T>A | CA349427141 | TTN,TTN-AS1 | c.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) | |
2 | g.178537181T>C | CA349427142 | TTN,TTN-AS1 | c.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) | |
2 | g.178537181T>G | CA349427143 | TTN,TTN-AS1 | c.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) | |
2 | g.178537182C>A | CA430238887 | TTN,TTN-AS1 | c.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 |
2 | g.178537182C= | CA1310515286 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537182C>G | CA1986107 | TTN,TTN-AS1 | c.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 |
2 | g.178537182C>T | CA430238888 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537183A= | CA1310515288 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537183A>C | CA349427146 | TTN,TTN-AS1 | c.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) | |
2 | g.178537183A>G | CA349427145 | TTN,TTN-AS1 | c.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 |
2 | g.178537183A>T | CA349427144 | TTN,TTN-AS1 | c.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) | |
2 | g.178537184C>A | CA349427147 | TTN,TTN-AS1 | c.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) | |
2 | g.178537184C= | CA1310515289 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537184C>G | CA349427148 | TTN,TTN-AS1 | c.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 |
2 | g.178537184C>T | CA349427149 | TTN,TTN-AS1 | c.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 |
2 | g.178537185T>A | CA430238890 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537185T>C | CA430238891 | TTN,TTN-AS1 | c.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 |
2 | g.178537185T>G | CA430238892 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537185T= | CA1310515290 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537186G>A | CA349427150 | TTN,TTN-AS1 | c.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 |
2 | g.178537186G>C | CA349427151 | TTN,TTN-AS1 | c.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) | |
2 | g.178537186G= | CA1310515292 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537186G>T | CA349427152 | TTN,TTN-AS1 | c.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) | |
2 | g.178537187C>A | CA349427154 | TTN,TTN-AS1 | c.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 |
2 | g.178537187C= | CA1310515293 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537187C>G | CA349427153 | TTN,TTN-AS1 | c.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) | |
2 | g.178537187C>T | CA1986108 | TTN,TTN-AS1 | c.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 |
2 | g.178537188G>A | CA1986109 | TTN,TTN-AS1 | c.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 |
2 | g.178537188G>C | CA430238896 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537188G= | CA1310515295 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537188G>T | CA430238897 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537189G>A | CA349427155 | TTN,TTN-AS1 | c.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) | |
2 | g.178537189G>C | CA349427156 | TTN,TTN-AS1 | c.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) | |
2 | g.178537189G>T | CA349427157 | TTN,TTN-AS1 | c.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) | |
2 | g.178537190_178537191dup | CA10606032 | TTN,TTN-AS1 | c.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 |
2 | g.178537190A>C | CA349427158 | TTN,TTN-AS1 | c.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) | |
2 | g.178537190A>G | CA349427159 | TTN,TTN-AS1 | c.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) | |
2 | g.178537190A>T | CA349427160 | TTN,TTN-AS1 | c.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) | |
2 | g.178537191G>A | CA430238901 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537191G>C | CA349427161 | TTN,TTN-AS1 | c.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) | |
2 | g.178537191G>T | CA349427162 | TTN,TTN-AS1 | c.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) | |
2 | g.178537192T>A | CA349427163 | TTN,TTN-AS1 | c.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) | |
2 | g.178537192T>C | CA349427164 | TTN,TTN-AS1 | c.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) | |
2 | g.178537192T>G | CA349427165 | TTN,TTN-AS1 | c.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) | |
2 | g.178537193T>A | CA349427166 | TTN,TTN-AS1 | c.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) | |
2 | g.178537193T>C | CA349427168 | TTN,TTN-AS1 | c.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) | |
2 | g.178537193T>G | CA349427167 | TTN,TTN-AS1 | c.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) | |
2 | g.178537193_178537203del | CA2740096324 | TTN,TTN-AS1 | c.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 |
2 | g.178537194C>A | CA349427169 | TTN,TTN-AS1 | c.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 |
2 | g.178537194C= | CA1310515299 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537194C>G | CA349427170 | TTN,TTN-AS1 | c.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) | |
2 | g.178537194C>T | CA430238909 | TTN,TTN-AS1 | c.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 |
2 | g.178537195T>A | CA349427171 | TTN,TTN-AS1 | c.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) | |
2 | g.178537195T>C | CA349427172 | TTN,TTN-AS1 | c.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) | |
2 | g.178537195T>G | CA349427173 | TTN,TTN-AS1 | c.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) | |
2 | g.178537196T>A | CA349427174 | TTN,TTN-AS1 | c.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) | |
2 | g.178537196T>C | CA349427175 | TTN,TTN-AS1 | c.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 |
2 | g.178537196T>G | CA349427176 | TTN,TTN-AS1 | c.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) | |
2 | g.178537196T= | CA1310515301 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537197C>A | CA349427177 | TTN,TTN-AS1 | c.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) | |
2 | g.178537197C>G | CA349427178 | TTN,TTN-AS1 | c.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) | |
2 | g.178537197C>T | CA430238911 | TTN,TTN-AS1 | c.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 |
2 | g.178537198A= | CA1310515302 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537198A>C | CA349427179 | TTN,TTN-AS1 | c.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) | |
2 | g.178537198A>G | CA349427180 | TTN,TTN-AS1 | c.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 |
2 | g.178537198A>T | CA349427181 | TTN,TTN-AS1 | c.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 |
2 | g.178537199A= | CA1310515304 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537199A>C | CA349427183 | TTN,TTN-AS1 | c.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) | |
2 | g.178537199A>G | CA430238913 | TTN,TTN-AS1 | c.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 |
2 | g.178537199A>T | CA349427182 | TTN,TTN-AS1 | c.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) | |
2 | g.178537199_178537200delinsAT | CA1310515305 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537200del | CA916719969 | TTN,TTN-AS1 | c.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 |
2 | g.178537200T>A | CA430238914 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537200T>C | CA60961330 | TTN,TTN-AS1 | c.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 |
2 | g.178537200T>G | CA430238915 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537200T= | CA1310515307 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537201A>C | CA349427184 | TTN,TTN-AS1 | c.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 |
2 | g.178537201A>G | CA349427185 | TTN,TTN-AS1 | c.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) | |
2 | g.178537201A>T | CA349427186 | TTN,TTN-AS1 | c.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) | |
2 | g.178537202G>A | CA430238921 | TTN,TTN-AS1 | c.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 |
2 | g.178537202G>C | CA1986110 | TTN,TTN-AS1 | c.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 |
2 | g.178537202G= | CA1310515308 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537202G>T | CA349427187 | TTN,TTN-AS1 | c.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) | |
2 | g.178537203A= | CA1310515310 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537203A>C | CA430238922 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537203A>G | CA430238923 | TTN,TTN-AS1 | c.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 |
2 | g.178537203A>T | CA430238924 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537204G>A | CA349427188 | TTN,TTN-AS1 | c.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) | |
2 | g.178537204G>C | CA349427189 | TTN,TTN-AS1 | c.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 |
2 | g.178537204G>T | CA349427190 | TTN,TTN-AS1 | c.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) | |
2 | g.178537205C>A | CA349427191 | TTN,TTN-AS1 | c.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 |
2 | g.178537205C= | CA1310515311 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537205C>G | CA349427192 | TTN,TTN-AS1 | c.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 |
2 | g.178537205C>T | CA349427193 | TTN,TTN-AS1 | c.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 |
2 | g.178537206T>A | CA349427194 | TTN,TTN-AS1 | c.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 |
2 | g.178537206T>C | CA10613010 | TTN,TTN-AS1 | c.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 |
2 | g.178537206T>G | CA349427195 | TTN,TTN-AS1 | c.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) | |
2 | g.178537206T= | CA1310515314 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537207T>A | CA349427196 | TTN,TTN-AS1 | c.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) | |
2 | g.178537207T>C | CA349427197 | TTN,TTN-AS1 | c.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 |
2 | g.178537207T>G | CA1986111 | TTN,TTN-AS1 | c.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 |
2 | g.178537207T= | CA1310515316 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537208C>A | CA349427198 | TTN,TTN-AS1 | c.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) | |
2 | g.178537208C= | CA1310515318 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537208C>G | CA349427199 | TTN,TTN-AS1 | c.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) | |
2 | g.178537208C>T | CA141530 | TTN,TTN-AS1 | c.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 |
2 | g.178537209G>A | CA1986112 | TTN,TTN-AS1 | c.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 |
2 | g.178537209G>C | CA349427200 | TTN,TTN-AS1 | c.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) | |
2 | g.178537209G= | CA1310515321 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537209G>T | CA430238931 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537210A>C | CA349427201 | TTN,TTN-AS1 | c.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) | |
2 | g.178537210A>G | CA349427202 | TTN,TTN-AS1 | c.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) | |
2 | g.178537210A>T | CA349427203 | TTN,TTN-AS1 | c.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) | |
2 | g.178537211T>A | CA349427204 | TTN,TTN-AS1 | c.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) | |
2 | g.178537211T>C | CA349427205 | TTN,TTN-AS1 | c.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 |
2 | g.178537211T>G | CA349427206 | TTN,TTN-AS1 | c.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) | |
2 | g.178537212C>A | CA430238935 | TTN,TTN-AS1 | c.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 |
2 | g.178537212C>G | CA430238936 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537212C>T | CA430238938 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537213A= | CA1310515323 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537213A>C | CA349427208 | TTN,TTN-AS1 | c.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) | |
2 | g.178537213A>G | CA311088 | TTN,TTN-AS1 | c.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 |
2 | g.178537213A>T | CA349427207 | TTN,TTN-AS1 | c.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) | |
2 | g.178537214C>A | CA349427209 | TTN,TTN-AS1 | c.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) | |
2 | g.178537214C>G | CA349427210 | TTN,TTN-AS1 | c.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) | |
2 | g.178537214C>T | CA349427211 | TTN,TTN-AS1 | c.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 |
2 | g.178537215A= | CA1310515325 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537215A>C | CA349427212 | TTN,TTN-AS1 | c.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 |
2 | g.178537215A>G | CA430238943 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537215A>T | CA430238944 | TTN,TTN-AS1 | c.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 |
2 | g.178537216A= | CA1310515326 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537216A>C | CA349427213 | TTN,TTN-AS1 | c.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) | |
2 | g.178537216A>G | CA1986113 | TTN,TTN-AS1 | c.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 |
2 | g.178537216A>T | CA349427214 | TTN,TTN-AS1 | c.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) | |
2 | g.178537217T>A | CA349427215 | TTN,TTN-AS1 | c.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) | |
2 | g.178537217T>C | CA60961345 | TTN,TTN-AS1 | c.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 |
2 | g.178537217T>G | CA349427216 | TTN,TTN-AS1 | c.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) | |
2 | g.178537217T= | CA1310515329 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537218T>A | CA430238951 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537218T>C | CA430238953 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537218T>G | CA430238952 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537219G>A | CA1986114 | TTN,TTN-AS1 | c.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 |
2 | g.178537219G>C | CA349427217 | TTN,TTN-AS1 | c.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) | |
2 | g.178537219G= | CA1310515330 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537219G>T | CA349427218 | TTN,TTN-AS1 | c.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) | |
2 | g.178537220G>A | CA349427221 | TTN,TTN-AS1 | c.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 |
2 | g.178537220G>C | CA349427219 | TTN,TTN-AS1 | c.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) | |
2 | g.178537220G= | CA1310515331 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537220G>T | CA349427220 | TTN,TTN-AS1 | c.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) | |
2 | g.178537221T>A | CA430238958 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537221T>C | CA430238961 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537221T>G | CA430238962 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537222C>A | CA349427222 | TTN,TTN-AS1 | c.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) | |
2 | g.178537222C= | CA1310515333 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537222C>G | CA349427223 | TTN,TTN-AS1 | c.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) | |
2 | g.178537222C>T | CA60961373 | TTN,TTN-AS1 | c.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 |
2 | g.178537223C>A | CA1986115 | TTN,TTN-AS1 | c.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 |
2 | g.178537223C= | CA1310515334 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537223C>G | CA349427224 | TTN,TTN-AS1 | c.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) | |
2 | g.178537223C>T | CA349427225 | TTN,TTN-AS1 | c.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 |
2 | g.178537224T>A | CA430238968 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537224T>C | CA430238970 | TTN,TTN-AS1 | c.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 |
2 | g.178537224T>G | CA430238971 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537225G>A | CA349427228 | TTN,TTN-AS1 | c.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 |
2 | g.178537225G>C | CA349427227 | TTN,TTN-AS1 | c.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) | |
2 | g.178537225G>T | CA349427226 | TTN,TTN-AS1 | c.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) | |
2 | g.178537226T>A | CA349427229 | TTN,TTN-AS1 | c.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) | |
2 | g.178537226T>C | CA349427230 | TTN,TTN-AS1 | c.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) | |
2 | g.178537226T>G | CA349427231 | TTN,TTN-AS1 | c.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) | |
2 | g.178537227A>C | CA430238978 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537227A>G | CA430238980 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537227A>T | CA430238982 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537228G>A | CA349427232 | TTN,TTN-AS1 | c.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 |
2 | g.178537228G>C | CA349427233 | TTN,TTN-AS1 | c.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) | |
2 | g.178537228G>T | CA349427234 | TTN,TTN-AS1 | c.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) | |
2 | g.178537229G>A | CA349427235 | TTN,TTN-AS1 | c.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 |
2 | g.178537229G>C | CA349427237 | TTN,TTN-AS1 | c.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) | |
2 | g.178537229G>T | CA349427236 | TTN,TTN-AS1 | c.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 |
2 | g.178537230T>A | CA349427238 | TTN,TTN-AS1 | c.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) | |
2 | g.178537230T>C | CA1986116 | TTN,TTN-AS1 | c.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 |
2 | g.178537230T>G | CA349427239 | TTN,TTN-AS1 | c.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 |
2 | g.178537230T= | CA1310515336 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537231T>A | CA349427240 | TTN,TTN-AS1 | c.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 |
2 | g.178537231T>C | CA349427241 | TTN,TTN-AS1 | c.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) | |
2 | g.178537231T>G | CA349427242 | TTN,TTN-AS1 | c.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) | |
2 | g.178537231_178537232delinsAC | CA2573051770 | TTN,TTN-AS1 | c.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 |
2 | g.178537232T>A | CA349427243 | TTN,TTN-AS1 | c.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) | |
2 | g.178537232T>C | CA349427244 | TTN,TTN-AS1 | c.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 |
2 | g.178537232T>G | CA349427245 | TTN,TTN-AS1 | c.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) | |
2 | g.178537233G>A | CA430238997 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537233G>C | CA349427246 | TTN,TTN-AS1 | c.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) | |
2 | g.178537233G>T | CA349427247 | TTN,TTN-AS1 | c.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) | |
2 | g.178537234T>A | CA349427248 | TTN,TTN-AS1 | c.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) | |
2 | g.178537234T>C | CA349427250 | TTN,TTN-AS1 | c.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) | |
2 | g.178537234T>G | CA349427249 | TTN,TTN-AS1 | c.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) | |
2 | g.178537235del | CA2580614422 | TTN,TTN-AS1 | c.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 |
2 | g.178537235C>A | CA349427251 | TTN,TTN-AS1 | c.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) | |
2 | g.178537235C>G | CA349427253 | TTN,TTN-AS1 | c.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) | |
2 | g.178537235C>T | CA349427252 | TTN,TTN-AS1 | c.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) | |
2 | g.178537236T>A | CA430239002 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537236T>C | CA430239004 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537236T>G | CA430239003 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537237G>A | CA349427254 | TTN,TTN-AS1 | c.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 |
2 | g.178537237G>C | CA349427255 | TTN,TTN-AS1 | c.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) | |
2 | g.178537237G= | CA1310515337 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537237G>T | CA349427256 | TTN,TTN-AS1 | c.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 |
2 | g.178537238G>A | CA349427257 | TTN,TTN-AS1 | c.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) | |
2 | g.178537238G>C | CA349427258 | TTN,TTN-AS1 | c.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) | |
2 | g.178537238G>T | CA349427259 | TTN,TTN-AS1 | c.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) | |
2 | g.178537239T>A | CA349427260 | TTN,TTN-AS1 | c.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) | |
2 | g.178537239T>C | CA430239009 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537239T>G | CA349427261 | TTN,TTN-AS1 | c.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) | |
2 | g.178537240T>A | CA349427262 | TTN,TTN-AS1 | c.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) | |
2 | g.178537240T>C | CA349427263 | TTN,TTN-AS1 | c.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) | |
2 | g.178537240T>G | CA349427264 | TTN,TTN-AS1 | c.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) | |
2 | g.178537241T>A | CA349427267 | TTN,TTN-AS1 | c.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) | |
2 | g.178537241T>C | CA349427266 | TTN,TTN-AS1 | c.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) | |
2 | g.178537241T>G | CA349427265 | TTN,TTN-AS1 | c.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) | |
2 | g.178537242A= | CA1310515338 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537242A>C | CA349427268 | TTN,TTN-AS1 | c.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) | |
2 | g.178537242A>G | CA430239013 | TTN,TTN-AS1 | c.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 |
2 | g.178537242A>T | CA349427269 | TTN,TTN-AS1 | c.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 |
2 | g.178537243T>A | CA349427270 | TTN,TTN-AS1 | c.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) | |
2 | g.178537243T>C | CA349427271 | TTN,TTN-AS1 | c.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 |
2 | g.178537243T>G | CA349427272 | TTN,TTN-AS1 | c.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) | |
2 | g.178537244C>A | CA349427273 | TTN,TTN-AS1 | c.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) | |
2 | g.178537244C= | CA1310515340 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537244C>G | CA349427274 | TTN,TTN-AS1 | c.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 |
2 | g.178537244C>T | CA10576454 | TTN,TTN-AS1 | c.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 |
2 | g.178537246_178537343del | CA2753331357 | TTN,TTN-AS1 | c.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 | |
2 | g.178537245T>A | CA349427275 | TTN,TTN-AS1 | c.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) | |
2 | g.178537245T>C | CA349427276 | TTN,TTN-AS1 | c.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) | |
2 | g.178537245T>G | CA349427277 | TTN,TTN-AS1 | c.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) | |
2 | g.178537246G>A | CA538435008 | TTN,TTN-AS1 | c.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 |
2 | g.178537246G= | CA1310515341 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537249G>T | CA2662127202 | TTN,TTN-AS1 | c.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 |
2 | g.178537250G= | CA1310515342 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537250G>T | CA1039713051 | TTN,TTN-AS1 | c.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 |
2 | g.178537251G>A | CA2577170522 | TTN,TTN-AS1 | c.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) | |
2 | g.178537251G>T | CA2662127203 | TTN,TTN-AS1 | c.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 |
2 | g.178537252G>A | CA2662127204 | TTN,TTN-AS1 | c.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 |
2 | g.178537253G>A | CA308974 | TTN,TTN-AS1 | c.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 |
2 | g.178537253G= | CA1310515343 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537253G>T | CA2662127206 | TTN,TTN-AS1 | c.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 |
2 | g.178537254A= | CA1310515345 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537254A>C | CA1986117 | TTN,TTN-AS1 | c.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 |
2 | g.178537257del | CA2662127207 | TTN,TTN-AS1 | c.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 |
2 | g.178537255A>G | CA2565682816 | TTN,TTN-AS1 | c.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) | |
2 | g.178537256A>G | CA2662127209 | TTN,TTN-AS1 | c.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 |
2 | g.178537257_178537259del | CA2662127208 | TTN,TTN-AS1 | c.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 |
2 | g.178537260C>A | CA647478665 | TTN,TTN-AS1 | c.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 |
2 | g.178537260C>T | CA2662127210 | TTN,TTN-AS1 | c.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 |
2 | g.178537263T>C | CA60961386 | TTN,TTN-AS1 | c.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 |
2 | g.178537263T= | CA1310515347 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537264_178537267delinsTGTG | CA1310515348 | TTN,TTN-AS1 | c.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) | |
2 | g.178537265G>A | CA2701299935 | TTN,TTN-AS1 | c.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 |
2 | g.178537270_178537272del | CA538435009 | TTN,TTN-AS1 | c.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 |
2 | g.178537267G>T | CA2662127211 | TTN,TTN-AS1 | c.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 |
2 | g.178537267_178537268insTTGG | CA2753331366 | TTN,TTN-AS1 | c.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) | |
2 | g.178537268G>A | CA538435010 | TTN,TTN-AS1 | c.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 |
2 | g.178537268G= | CA1310515350 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537270G>A | CA1986118 | TTN,TTN-AS1 | c.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 |
2 | g.178537270G= | CA1310515351 | TTN,TTN-AS1 | c.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=) | |
2 | g.178537270G>T | CA2662127212 | TTN,TTN-AS1 | c.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 |
2 | g.178537270_178537271insT | CA2753331368 | TTN,TTN-AS1 | c.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) | |
2 | g.178537271G>A | CA1310515353 | TTN,TTN-AS1 | c.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 |
2 | g.178537271G= | CA1310515352 | TTN,TTN-AS1 | c.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=) |