Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178576081G>ACA16610380TTN,TTN-AS1c.62347C>T (p.Arg20783Ter)
c.43432C>T (p.Arg14478Ter)
c.43231C>T (p.Arg14411Ter)
c.42856C>T (p.Arg14286Ter)
c.70051C>T (p.Arg23351Ter)
c.65128C>T (p.Arg21710Ter)
n.596+4632G>A
n.2044-6491G>A
c.69148C>T (p.Arg23050Ter)
c.43042C>T (p.Arg14348Ter)
c.42901C>T (p.Arg14301Ter)
c.68944C>T (p.Arg22982Ter)
c.64342C>T (p.Arg21448Ter)
c.64339C>T (p.Arg21447Ter)
c.61381C>T (p.Arg20461Ter)
c.42997C>T (p.Arg14333Ter)
c.64492C>T (p.Arg21498Ter)
c.64489C>T (p.Arg21497Ter)
c.63922C>T (p.Arg21308Ter)
c.61264C>T (p.Arg20422Ter)
c.61183C>T (p.Arg20395Ter)
c.42946C>T (p.Arg14316Ter)
c.32800C>T (p.Arg10934Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178576081G>CCA349665215TTN,TTN-AS1c.62347C>G (p.Arg20783Gly)
c.43432C>G (p.Arg14478Gly)
c.43231C>G (p.Arg14411Gly)
c.42856C>G (p.Arg14286Gly)
c.70051C>G (p.Arg23351Gly)
c.65128C>G (p.Arg21710Gly)
n.596+4632G>C
n.2044-6491G>C
c.69148C>G (p.Arg23050Gly)
c.43042C>G (p.Arg14348Gly)
c.42901C>G (p.Arg14301Gly)
c.68944C>G (p.Arg22982Gly)
c.64342C>G (p.Arg21448Gly)
c.64339C>G (p.Arg21447Gly)
c.61381C>G (p.Arg20461Gly)
c.42997C>G (p.Arg14333Gly)
c.64492C>G (p.Arg21498Gly)
c.64489C>G (p.Arg21497Gly)
c.63922C>G (p.Arg21308Gly)
c.61264C>G (p.Arg20422Gly)
c.61183C>G (p.Arg20395Gly)
c.42946C>G (p.Arg14316Gly)
c.32800C>G (p.Arg10934Gly)
2g.178576081G=CA1310533475TTN,TTN-AS1c.62347C= (p.Arg20783=)
c.43432C= (p.Arg14478=)
c.43231C= (p.Arg14411=)
c.42856C= (p.Arg14286=)
c.70051C= (p.Arg23351=)
c.65128C= (p.Arg21710=)
n.596+4632G=
n.2044-6491G=
c.69148C= (p.Arg23050=)
c.43042C= (p.Arg14348=)
c.42901C= (p.Arg14301=)
c.68944C= (p.Arg22982=)
c.64342C= (p.Arg21448=)
c.64339C= (p.Arg21447=)
c.61381C= (p.Arg20461=)
c.42997C= (p.Arg14333=)
c.64492C= (p.Arg21498=)
c.64489C= (p.Arg21497=)
c.63922C= (p.Arg21308=)
c.61264C= (p.Arg20422=)
c.61183C= (p.Arg20395=)
c.42946C= (p.Arg14316=)
c.32800C= (p.Arg10934=)
2g.178576081G>TCA430258555TTN,TTN-AS1c.62347C>A (p.Arg20783=)
c.43432C>A (p.Arg14478=)
c.43231C>A (p.Arg14411=)
c.42856C>A (p.Arg14286=)
c.70051C>A (p.Arg23351=)
c.65128C>A (p.Arg21710=)
n.596+4632G>T
n.2044-6491G>T
c.69148C>A (p.Arg23050=)
c.43042C>A (p.Arg14348=)
c.42901C>A (p.Arg14301=)
c.68944C>A (p.Arg22982=)
c.64342C>A (p.Arg21448=)
c.64339C>A (p.Arg21447=)
c.61381C>A (p.Arg20461=)
c.42997C>A (p.Arg14333=)
c.64492C>A (p.Arg21498=)
c.64489C>A (p.Arg21497=)
c.63922C>A (p.Arg21308=)
c.61264C>A (p.Arg20422=)
c.61183C>A (p.Arg20395=)
c.42946C>A (p.Arg14316=)
c.32800C>A (p.Arg10934=)
2g.178576082A>CCA430258556TTN,TTN-AS1c.62346T>G (p.Leu20782=)
c.43431T>G (p.Leu14477=)
c.43230T>G (p.Leu14410=)
c.42855T>G (p.Leu14285=)
c.70050T>G (p.Leu23350=)
c.65127T>G (p.Leu21709=)
n.596+4633A>C
n.2044-6490A>C
c.69147T>G (p.Leu23049=)
c.43041T>G (p.Leu14347=)
c.42900T>G (p.Leu14300=)
c.68943T>G (p.Leu22981=)
c.64341T>G (p.Leu21447=)
c.64338T>G (p.Leu21446=)
c.61380T>G (p.Leu20460=)
c.42996T>G (p.Leu14332=)
c.64491T>G (p.Leu21497=)
c.64488T>G (p.Leu21496=)
c.63921T>G (p.Leu21307=)
c.61263T>G (p.Leu20421=)
c.61182T>G (p.Leu20394=)
c.42945T>G (p.Leu14315=)
c.32799T>G (p.Leu10933=)
2g.178576082A>GCA430258558TTN,TTN-AS1c.62346T>C (p.Leu20782=)
c.43431T>C (p.Leu14477=)
c.43230T>C (p.Leu14410=)
c.42855T>C (p.Leu14285=)
c.70050T>C (p.Leu23350=)
c.65127T>C (p.Leu21709=)
n.596+4633A>G
n.2044-6490A>G
c.69147T>C (p.Leu23049=)
c.43041T>C (p.Leu14347=)
c.42900T>C (p.Leu14300=)
c.68943T>C (p.Leu22981=)
c.64341T>C (p.Leu21447=)
c.64338T>C (p.Leu21446=)
c.61380T>C (p.Leu20460=)
c.42996T>C (p.Leu14332=)
c.64491T>C (p.Leu21497=)
c.64488T>C (p.Leu21496=)
c.63921T>C (p.Leu21307=)
c.61263T>C (p.Leu20421=)
c.61182T>C (p.Leu20394=)
c.42945T>C (p.Leu14315=)
c.32799T>C (p.Leu10933=)
2g.178576082A>TCA430258560TTN,TTN-AS1c.62346T>A (p.Leu20782=)
c.43431T>A (p.Leu14477=)
c.43230T>A (p.Leu14410=)
c.42855T>A (p.Leu14285=)
c.70050T>A (p.Leu23350=)
c.65127T>A (p.Leu21709=)
n.596+4633A>T
n.2044-6490A>T
c.69147T>A (p.Leu23049=)
c.43041T>A (p.Leu14347=)
c.42900T>A (p.Leu14300=)
c.68943T>A (p.Leu22981=)
c.64341T>A (p.Leu21447=)
c.64338T>A (p.Leu21446=)
c.61380T>A (p.Leu20460=)
c.42996T>A (p.Leu14332=)
c.64491T>A (p.Leu21497=)
c.64488T>A (p.Leu21496=)
c.63921T>A (p.Leu21307=)
c.61263T>A (p.Leu20421=)
c.61182T>A (p.Leu20394=)
c.42945T>A (p.Leu14315=)
c.32799T>A (p.Leu10933=)
2g.178576083A>CCA349665218TTN,TTN-AS1c.62345T>G (p.Leu20782Arg)
c.43430T>G (p.Leu14477Arg)
c.43229T>G (p.Leu14410Arg)
c.42854T>G (p.Leu14285Arg)
c.70049T>G (p.Leu23350Arg)
c.65126T>G (p.Leu21709Arg)
n.596+4634A>C
n.2044-6489A>C
c.69146T>G (p.Leu23049Arg)
c.43040T>G (p.Leu14347Arg)
c.42899T>G (p.Leu14300Arg)
c.68942T>G (p.Leu22981Arg)
c.64340T>G (p.Leu21447Arg)
c.64337T>G (p.Leu21446Arg)
c.61379T>G (p.Leu20460Arg)
c.42995T>G (p.Leu14332Arg)
c.64490T>G (p.Leu21497Arg)
c.64487T>G (p.Leu21496Arg)
c.63920T>G (p.Leu21307Arg)
c.61262T>G (p.Leu20421Arg)
c.61181T>G (p.Leu20394Arg)
c.42944T>G (p.Leu14315Arg)
c.32798T>G (p.Leu10933Arg)
2g.178576083A>GCA349665219TTN,TTN-AS1c.62345T>C (p.Leu20782Pro)
c.43430T>C (p.Leu14477Pro)
c.43229T>C (p.Leu14410Pro)
c.42854T>C (p.Leu14285Pro)
c.70049T>C (p.Leu23350Pro)
c.65126T>C (p.Leu21709Pro)
n.596+4634A>G
n.2044-6489A>G
c.69146T>C (p.Leu23049Pro)
c.43040T>C (p.Leu14347Pro)
c.42899T>C (p.Leu14300Pro)
c.68942T>C (p.Leu22981Pro)
c.64340T>C (p.Leu21447Pro)
c.64337T>C (p.Leu21446Pro)
c.61379T>C (p.Leu20460Pro)
c.42995T>C (p.Leu14332Pro)
c.64490T>C (p.Leu21497Pro)
c.64487T>C (p.Leu21496Pro)
c.63920T>C (p.Leu21307Pro)
c.61262T>C (p.Leu20421Pro)
c.61181T>C (p.Leu20394Pro)
c.42944T>C (p.Leu14315Pro)
c.32798T>C (p.Leu10933Pro)
2g.178576083A>TCA349665221TTN,TTN-AS1c.62345T>A (p.Leu20782His)
c.43430T>A (p.Leu14477His)
c.43229T>A (p.Leu14410His)
c.42854T>A (p.Leu14285His)
c.70049T>A (p.Leu23350His)
c.65126T>A (p.Leu21709His)
n.596+4634A>T
n.2044-6489A>T
c.69146T>A (p.Leu23049His)
c.43040T>A (p.Leu14347His)
c.42899T>A (p.Leu14300His)
c.68942T>A (p.Leu22981His)
c.64340T>A (p.Leu21447His)
c.64337T>A (p.Leu21446His)
c.61379T>A (p.Leu20460His)
c.42995T>A (p.Leu14332His)
c.64490T>A (p.Leu21497His)
c.64487T>A (p.Leu21496His)
c.63920T>A (p.Leu21307His)
c.61262T>A (p.Leu20421His)
c.61181T>A (p.Leu20394His)
c.42944T>A (p.Leu14315His)
c.32798T>A (p.Leu10933His)
2g.178576084G>ACA349665226TTN,TTN-AS1c.62344C>T (p.Leu20782Phe)
c.43429C>T (p.Leu14477Phe)
c.43228C>T (p.Leu14410Phe)
c.42853C>T (p.Leu14285Phe)
c.70048C>T (p.Leu23350Phe)
c.65125C>T (p.Leu21709Phe)
n.596+4635G>A
n.2044-6488G>A
c.69145C>T (p.Leu23049Phe)
c.43039C>T (p.Leu14347Phe)
c.42898C>T (p.Leu14300Phe)
c.68941C>T (p.Leu22981Phe)
c.64339C>T (p.Leu21447Phe)
c.64336C>T (p.Leu21446Phe)
c.61378C>T (p.Leu20460Phe)
c.42994C>T (p.Leu14332Phe)
c.64489C>T (p.Leu21497Phe)
c.64486C>T (p.Leu21496Phe)
c.63919C>T (p.Leu21307Phe)
c.61261C>T (p.Leu20421Phe)
c.61180C>T (p.Leu20394Phe)
c.42943C>T (p.Leu14315Phe)
c.32797C>T (p.Leu10933Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.178576084G>CCA349665223TTN,TTN-AS1c.62344C>G (p.Leu20782Val)
c.43429C>G (p.Leu14477Val)
c.43228C>G (p.Leu14410Val)
c.42853C>G (p.Leu14285Val)
c.70048C>G (p.Leu23350Val)
c.65125C>G (p.Leu21709Val)
n.596+4635G>C
n.2044-6488G>C
c.69145C>G (p.Leu23049Val)
c.43039C>G (p.Leu14347Val)
c.42898C>G (p.Leu14300Val)
c.68941C>G (p.Leu22981Val)
c.64339C>G (p.Leu21447Val)
c.64336C>G (p.Leu21446Val)
c.61378C>G (p.Leu20460Val)
c.42994C>G (p.Leu14332Val)
c.64489C>G (p.Leu21497Val)
c.64486C>G (p.Leu21496Val)
c.63919C>G (p.Leu21307Val)
c.61261C>G (p.Leu20421Val)
c.61180C>G (p.Leu20394Val)
c.42943C>G (p.Leu14315Val)
c.32797C>G (p.Leu10933Val)
2g.178576084G=CA1310533476TTN,TTN-AS1c.62344C= (p.Leu20782=)
c.43429C= (p.Leu14477=)
c.43228C= (p.Leu14410=)
c.42853C= (p.Leu14285=)
c.70048C= (p.Leu23350=)
c.65125C= (p.Leu21709=)
n.596+4635G=
n.2044-6488G=
c.69145C= (p.Leu23049=)
c.43039C= (p.Leu14347=)
c.42898C= (p.Leu14300=)
c.68941C= (p.Leu22981=)
c.64339C= (p.Leu21447=)
c.64336C= (p.Leu21446=)
c.61378C= (p.Leu20460=)
c.42994C= (p.Leu14332=)
c.64489C= (p.Leu21497=)
c.64486C= (p.Leu21496=)
c.63919C= (p.Leu21307=)
c.61261C= (p.Leu20421=)
c.61180C= (p.Leu20394=)
c.42943C= (p.Leu14315=)
c.32797C= (p.Leu10933=)
2g.178576084G>TCA349665224TTN,TTN-AS1c.62344C>A (p.Leu20782Ile)
c.43429C>A (p.Leu14477Ile)
c.43228C>A (p.Leu14410Ile)
c.42853C>A (p.Leu14285Ile)
c.70048C>A (p.Leu23350Ile)
c.65125C>A (p.Leu21709Ile)
n.596+4635G>T
n.2044-6488G>T
c.69145C>A (p.Leu23049Ile)
c.43039C>A (p.Leu14347Ile)
c.42898C>A (p.Leu14300Ile)
c.68941C>A (p.Leu22981Ile)
c.64339C>A (p.Leu21447Ile)
c.64336C>A (p.Leu21446Ile)
c.61378C>A (p.Leu20460Ile)
c.42994C>A (p.Leu14332Ile)
c.64489C>A (p.Leu21497Ile)
c.64486C>A (p.Leu21496Ile)
c.63919C>A (p.Leu21307Ile)
c.61261C>A (p.Leu20421Ile)
c.61180C>A (p.Leu20394Ile)
c.42943C>A (p.Leu14315Ile)
c.32797C>A (p.Leu10933Ile)
2g.178576085C>ACA349665228TTN,TTN-AS1c.62343G>T (p.Glu20781Asp)
c.43428G>T (p.Glu14476Asp)
c.43227G>T (p.Glu14409Asp)
c.42852G>T (p.Glu14284Asp)
c.70047G>T (p.Glu23349Asp)
c.65124G>T (p.Glu21708Asp)
n.596+4636C>A
n.2044-6487C>A
c.69144G>T (p.Glu23048Asp)
c.43038G>T (p.Glu14346Asp)
c.42897G>T (p.Glu14299Asp)
c.68940G>T (p.Glu22980Asp)
c.64338G>T (p.Glu21446Asp)
c.64335G>T (p.Glu21445Asp)
c.61377G>T (p.Glu20459Asp)
c.42993G>T (p.Glu14331Asp)
c.64488G>T (p.Glu21496Asp)
c.64485G>T (p.Glu21495Asp)
c.63918G>T (p.Glu21306Asp)
c.61260G>T (p.Glu20420Asp)
c.61179G>T (p.Glu20393Asp)
c.42942G>T (p.Glu14314Asp)
c.32796G>T (p.Glu10932Asp)
2g.178576085C=CA1310533477TTN,TTN-AS1c.62343G= (p.Glu20781=)
c.43428G= (p.Glu14476=)
c.43227G= (p.Glu14409=)
c.42852G= (p.Glu14284=)
c.70047G= (p.Glu23349=)
c.65124G= (p.Glu21708=)
n.596+4636C=
n.2044-6487C=
c.69144G= (p.Glu23048=)
c.43038G= (p.Glu14346=)
c.42897G= (p.Glu14299=)
c.68940G= (p.Glu22980=)
c.64338G= (p.Glu21446=)
c.64335G= (p.Glu21445=)
c.61377G= (p.Glu20459=)
c.42993G= (p.Glu14331=)
c.64488G= (p.Glu21496=)
c.64485G= (p.Glu21495=)
c.63918G= (p.Glu21306=)
c.61260G= (p.Glu20420=)
c.61179G= (p.Glu20393=)
c.42942G= (p.Glu14314=)
c.32796G= (p.Glu10932=)
2g.178576085C>GCA1990845TTN,TTN-AS1c.62343G>C (p.Glu20781Asp)
c.43428G>C (p.Glu14476Asp)
c.43227G>C (p.Glu14409Asp)
c.42852G>C (p.Glu14284Asp)
c.70047G>C (p.Glu23349Asp)
c.65124G>C (p.Glu21708Asp)
n.596+4636C>G
n.2044-6487C>G
c.69144G>C (p.Glu23048Asp)
c.43038G>C (p.Glu14346Asp)
c.42897G>C (p.Glu14299Asp)
c.68940G>C (p.Glu22980Asp)
c.64338G>C (p.Glu21446Asp)
c.64335G>C (p.Glu21445Asp)
c.61377G>C (p.Glu20459Asp)
c.42993G>C (p.Glu14331Asp)
c.64488G>C (p.Glu21496Asp)
c.64485G>C (p.Glu21495Asp)
c.63918G>C (p.Glu21306Asp)
c.61260G>C (p.Glu20420Asp)
c.61179G>C (p.Glu20393Asp)
c.42942G>C (p.Glu14314Asp)
c.32796G>C (p.Glu10932Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178576085C>TCA430258564TTN,TTN-AS1c.62343G>A (p.Glu20781=)
c.43428G>A (p.Glu14476=)
c.43227G>A (p.Glu14409=)
c.42852G>A (p.Glu14284=)
c.70047G>A (p.Glu23349=)
c.65124G>A (p.Glu21708=)
n.596+4636C>T
n.2044-6487C>T
c.69144G>A (p.Glu23048=)
c.43038G>A (p.Glu14346=)
c.42897G>A (p.Glu14299=)
c.68940G>A (p.Glu22980=)
c.64338G>A (p.Glu21446=)
c.64335G>A (p.Glu21445=)
c.61377G>A (p.Glu20459=)
c.42993G>A (p.Glu14331=)
c.64488G>A (p.Glu21496=)
c.64485G>A (p.Glu21495=)
c.63918G>A (p.Glu21306=)
c.61260G>A (p.Glu20420=)
c.61179G>A (p.Glu20393=)
c.42942G>A (p.Glu14314=)
c.32796G>A (p.Glu10932=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178576086T>ACA349665232TTN,TTN-AS1c.62342A>T (p.Glu20781Val)
c.43427A>T (p.Glu14476Val)
c.43226A>T (p.Glu14409Val)
c.42851A>T (p.Glu14284Val)
c.70046A>T (p.Glu23349Val)
c.65123A>T (p.Glu21708Val)
n.596+4637T>A
n.2044-6486T>A
c.69143A>T (p.Glu23048Val)
c.43037A>T (p.Glu14346Val)
c.42896A>T (p.Glu14299Val)
c.68939A>T (p.Glu22980Val)
c.64337A>T (p.Glu21446Val)
c.64334A>T (p.Glu21445Val)
c.61376A>T (p.Glu20459Val)
c.42992A>T (p.Glu14331Val)
c.64487A>T (p.Glu21496Val)
c.64484A>T (p.Glu21495Val)
c.63917A>T (p.Glu21306Val)
c.61259A>T (p.Glu20420Val)
c.61178A>T (p.Glu20393Val)
c.42941A>T (p.Glu14314Val)
c.32795A>T (p.Glu10932Val)
2g.178576086T>CCA349665233TTN,TTN-AS1c.62342A>G (p.Glu20781Gly)
c.43427A>G (p.Glu14476Gly)
c.43226A>G (p.Glu14409Gly)
c.42851A>G (p.Glu14284Gly)
c.70046A>G (p.Glu23349Gly)
c.65123A>G (p.Glu21708Gly)
n.596+4637T>C
n.2044-6486T>C
c.69143A>G (p.Glu23048Gly)
c.43037A>G (p.Glu14346Gly)
c.42896A>G (p.Glu14299Gly)
c.68939A>G (p.Glu22980Gly)
c.64337A>G (p.Glu21446Gly)
c.64334A>G (p.Glu21445Gly)
c.61376A>G (p.Glu20459Gly)
c.42992A>G (p.Glu14331Gly)
c.64487A>G (p.Glu21496Gly)
c.64484A>G (p.Glu21495Gly)
c.63917A>G (p.Glu21306Gly)
c.61259A>G (p.Glu20420Gly)
c.61178A>G (p.Glu20393Gly)
c.42941A>G (p.Glu14314Gly)
c.32795A>G (p.Glu10932Gly)
2g.178576086T>GCA349665234TTN,TTN-AS1c.62342A>C (p.Glu20781Ala)
c.43427A>C (p.Glu14476Ala)
c.43226A>C (p.Glu14409Ala)
c.42851A>C (p.Glu14284Ala)
c.70046A>C (p.Glu23349Ala)
c.65123A>C (p.Glu21708Ala)
n.596+4637T>G
n.2044-6486T>G
c.69143A>C (p.Glu23048Ala)
c.43037A>C (p.Glu14346Ala)
c.42896A>C (p.Glu14299Ala)
c.68939A>C (p.Glu22980Ala)
c.64337A>C (p.Glu21446Ala)
c.64334A>C (p.Glu21445Ala)
c.61376A>C (p.Glu20459Ala)
c.42992A>C (p.Glu14331Ala)
c.64487A>C (p.Glu21496Ala)
c.64484A>C (p.Glu21495Ala)
c.63917A>C (p.Glu21306Ala)
c.61259A>C (p.Glu20420Ala)
c.61178A>C (p.Glu20393Ala)
c.42941A>C (p.Glu14314Ala)
c.32795A>C (p.Glu10932Ala)
2g.178576087C>ACA349665237TTN,TTN-AS1c.62341G>T (p.Glu20781Ter)
c.43426G>T (p.Glu14476Ter)
c.43225G>T (p.Glu14409Ter)
c.42850G>T (p.Glu14284Ter)
c.70045G>T (p.Glu23349Ter)
c.65122G>T (p.Glu21708Ter)
n.596+4638C>A
n.2044-6485C>A
c.69142G>T (p.Glu23048Ter)
c.43036G>T (p.Glu14346Ter)
c.42895G>T (p.Glu14299Ter)
c.68938G>T (p.Glu22980Ter)
c.64336G>T (p.Glu21446Ter)
c.64333G>T (p.Glu21445Ter)
c.61375G>T (p.Glu20459Ter)
c.42991G>T (p.Glu14331Ter)
c.64486G>T (p.Glu21496Ter)
c.64483G>T (p.Glu21495Ter)
c.63916G>T (p.Glu21306Ter)
c.61258G>T (p.Glu20420Ter)
c.61177G>T (p.Glu20393Ter)
c.42940G>T (p.Glu14314Ter)
c.32794G>T (p.Glu10932Ter)
 ClinVar
2g.178576087C=CA1310533478TTN,TTN-AS1c.62341G= (p.Glu20781=)
c.43426G= (p.Glu14476=)
c.43225G= (p.Glu14409=)
c.42850G= (p.Glu14284=)
c.70045G= (p.Glu23349=)
c.65122G= (p.Glu21708=)
n.596+4638C=
n.2044-6485C=
c.69142G= (p.Glu23048=)
c.43036G= (p.Glu14346=)
c.42895G= (p.Glu14299=)
c.68938G= (p.Glu22980=)
c.64336G= (p.Glu21446=)
c.64333G= (p.Glu21445=)
c.61375G= (p.Glu20459=)
c.42991G= (p.Glu14331=)
c.64486G= (p.Glu21496=)
c.64483G= (p.Glu21495=)
c.63916G= (p.Glu21306=)
c.61258G= (p.Glu20420=)
c.61177G= (p.Glu20393=)
c.42940G= (p.Glu14314=)
c.32794G= (p.Glu10932=)
2g.178576087C>GCA349665238TTN,TTN-AS1c.62341G>C (p.Glu20781Gln)
c.43426G>C (p.Glu14476Gln)
c.43225G>C (p.Glu14409Gln)
c.42850G>C (p.Glu14284Gln)
c.70045G>C (p.Glu23349Gln)
c.65122G>C (p.Glu21708Gln)
n.596+4638C>G
n.2044-6485C>G
c.69142G>C (p.Glu23048Gln)
c.43036G>C (p.Glu14346Gln)
c.42895G>C (p.Glu14299Gln)
c.68938G>C (p.Glu22980Gln)
c.64336G>C (p.Glu21446Gln)
c.64333G>C (p.Glu21445Gln)
c.61375G>C (p.Glu20459Gln)
c.42991G>C (p.Glu14331Gln)
c.64486G>C (p.Glu21496Gln)
c.64483G>C (p.Glu21495Gln)
c.63916G>C (p.Glu21306Gln)
c.61258G>C (p.Glu20420Gln)
c.61177G>C (p.Glu20393Gln)
c.42940G>C (p.Glu14314Gln)
c.32794G>C (p.Glu10932Gln)
2g.178576087C>TCA140562TTN,TTN-AS1c.62341G>A (p.Glu20781Lys)
c.43426G>A (p.Glu14476Lys)
c.43225G>A (p.Glu14409Lys)
c.42850G>A (p.Glu14284Lys)
c.70045G>A (p.Glu23349Lys)
c.65122G>A (p.Glu21708Lys)
n.596+4638C>T
n.2044-6485C>T
c.69142G>A (p.Glu23048Lys)
c.43036G>A (p.Glu14346Lys)
c.42895G>A (p.Glu14299Lys)
c.68938G>A (p.Glu22980Lys)
c.64336G>A (p.Glu21446Lys)
c.64333G>A (p.Glu21445Lys)
c.61375G>A (p.Glu20459Lys)
c.42991G>A (p.Glu14331Lys)
c.64486G>A (p.Glu21496Lys)
c.64483G>A (p.Glu21495Lys)
c.63916G>A (p.Glu21306Lys)
c.61258G>A (p.Glu20420Lys)
c.61177G>A (p.Glu20393Lys)
c.42940G>A (p.Glu14314Lys)
c.32794G>A (p.Glu10932Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178576088G>ACA1990846TTN,TTN-AS1c.62340C>T (p.Ala20780=)
c.43425C>T (p.Ala14475=)
c.43224C>T (p.Ala14408=)
c.42849C>T (p.Ala14283=)
c.70044C>T (p.Ala23348=)
c.65121C>T (p.Ala21707=)
n.596+4639G>A
n.2044-6484G>A
c.69141C>T (p.Ala23047=)
c.43035C>T (p.Ala14345=)
c.42894C>T (p.Ala14298=)
c.68937C>T (p.Ala22979=)
c.64335C>T (p.Ala21445=)
c.64332C>T (p.Ala21444=)
c.61374C>T (p.Ala20458=)
c.42990C>T (p.Ala14330=)
c.64485C>T (p.Ala21495=)
c.64482C>T (p.Ala21494=)
c.63915C>T (p.Ala21305=)
c.61257C>T (p.Ala20419=)
c.61176C>T (p.Ala20392=)
c.42939C>T (p.Ala14313=)
c.32793C>T (p.Ala10931=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178576088G>CCA430258566TTN,TTN-AS1c.62340C>G (p.Ala20780=)
c.43425C>G (p.Ala14475=)
c.43224C>G (p.Ala14408=)
c.42849C>G (p.Ala14283=)
c.70044C>G (p.Ala23348=)
c.65121C>G (p.Ala21707=)
n.596+4639G>C
n.2044-6484G>C
c.69141C>G (p.Ala23047=)
c.43035C>G (p.Ala14345=)
c.42894C>G (p.Ala14298=)
c.68937C>G (p.Ala22979=)
c.64335C>G (p.Ala21445=)
c.64332C>G (p.Ala21444=)
c.61374C>G (p.Ala20458=)
c.42990C>G (p.Ala14330=)
c.64485C>G (p.Ala21495=)
c.64482C>G (p.Ala21494=)
c.63915C>G (p.Ala21305=)
c.61257C>G (p.Ala20419=)
c.61176C>G (p.Ala20392=)
c.42939C>G (p.Ala14313=)
c.32793C>G (p.Ala10931=)
2g.178576088G=CA1310533479TTN,TTN-AS1c.62340C= (p.Ala20780=)
c.43425C= (p.Ala14475=)
c.43224C= (p.Ala14408=)
c.42849C= (p.Ala14283=)
c.70044C= (p.Ala23348=)
c.65121C= (p.Ala21707=)
n.596+4639G=
n.2044-6484G=
c.69141C= (p.Ala23047=)
c.43035C= (p.Ala14345=)
c.42894C= (p.Ala14298=)
c.68937C= (p.Ala22979=)
c.64335C= (p.Ala21445=)
c.64332C= (p.Ala21444=)
c.61374C= (p.Ala20458=)
c.42990C= (p.Ala14330=)
c.64485C= (p.Ala21495=)
c.64482C= (p.Ala21494=)
c.63915C= (p.Ala21305=)
c.61257C= (p.Ala20419=)
c.61176C= (p.Ala20392=)
c.42939C= (p.Ala14313=)
c.32793C= (p.Ala10931=)
2g.178576088G>TCA430258567TTN,TTN-AS1c.62340C>A (p.Ala20780=)
c.43425C>A (p.Ala14475=)
c.43224C>A (p.Ala14408=)
c.42849C>A (p.Ala14283=)
c.70044C>A (p.Ala23348=)
c.65121C>A (p.Ala21707=)
n.596+4639G>T
n.2044-6484G>T
c.69141C>A (p.Ala23047=)
c.43035C>A (p.Ala14345=)
c.42894C>A (p.Ala14298=)
c.68937C>A (p.Ala22979=)
c.64335C>A (p.Ala21445=)
c.64332C>A (p.Ala21444=)
c.61374C>A (p.Ala20458=)
c.42990C>A (p.Ala14330=)
c.64485C>A (p.Ala21495=)
c.64482C>A (p.Ala21494=)
c.63915C>A (p.Ala21305=)
c.61257C>A (p.Ala20419=)
c.61176C>A (p.Ala20392=)
c.42939C>A (p.Ala14313=)
c.32793C>A (p.Ala10931=)
 dbSNP
2g.178576089G>ACA349665243TTN,TTN-AS1c.62339C>T (p.Ala20780Val)
c.43424C>T (p.Ala14475Val)
c.43223C>T (p.Ala14408Val)
c.42848C>T (p.Ala14283Val)
c.70043C>T (p.Ala23348Val)
c.65120C>T (p.Ala21707Val)
n.596+4640G>A
n.2044-6483G>A
c.69140C>T (p.Ala23047Val)
c.43034C>T (p.Ala14345Val)
c.42893C>T (p.Ala14298Val)
c.68936C>T (p.Ala22979Val)
c.64334C>T (p.Ala21445Val)
c.64331C>T (p.Ala21444Val)
c.61373C>T (p.Ala20458Val)
c.42989C>T (p.Ala14330Val)
c.64484C>T (p.Ala21495Val)
c.64481C>T (p.Ala21494Val)
c.63914C>T (p.Ala21305Val)
c.61256C>T (p.Ala20419Val)
c.61175C>T (p.Ala20392Val)
c.42938C>T (p.Ala14313Val)
c.32792C>T (p.Ala10931Val)
2g.178576089G>CCA349665245TTN,TTN-AS1c.62339C>G (p.Ala20780Gly)
c.43424C>G (p.Ala14475Gly)
c.43223C>G (p.Ala14408Gly)
c.42848C>G (p.Ala14283Gly)
c.70043C>G (p.Ala23348Gly)
c.65120C>G (p.Ala21707Gly)
n.596+4640G>C
n.2044-6483G>C
c.69140C>G (p.Ala23047Gly)
c.43034C>G (p.Ala14345Gly)
c.42893C>G (p.Ala14298Gly)
c.68936C>G (p.Ala22979Gly)
c.64334C>G (p.Ala21445Gly)
c.64331C>G (p.Ala21444Gly)
c.61373C>G (p.Ala20458Gly)
c.42989C>G (p.Ala14330Gly)
c.64484C>G (p.Ala21495Gly)
c.64481C>G (p.Ala21494Gly)
c.63914C>G (p.Ala21305Gly)
c.61256C>G (p.Ala20419Gly)
c.61175C>G (p.Ala20392Gly)
c.42938C>G (p.Ala14313Gly)
c.32792C>G (p.Ala10931Gly)
2g.178576089G>TCA349665249TTN,TTN-AS1c.62339C>A (p.Ala20780Asp)
c.43424C>A (p.Ala14475Asp)
c.43223C>A (p.Ala14408Asp)
c.42848C>A (p.Ala14283Asp)
c.70043C>A (p.Ala23348Asp)
c.65120C>A (p.Ala21707Asp)
n.596+4640G>T
n.2044-6483G>T
c.69140C>A (p.Ala23047Asp)
c.43034C>A (p.Ala14345Asp)
c.42893C>A (p.Ala14298Asp)
c.68936C>A (p.Ala22979Asp)
c.64334C>A (p.Ala21445Asp)
c.64331C>A (p.Ala21444Asp)
c.61373C>A (p.Ala20458Asp)
c.42989C>A (p.Ala14330Asp)
c.64484C>A (p.Ala21495Asp)
c.64481C>A (p.Ala21494Asp)
c.63914C>A (p.Ala21305Asp)
c.61256C>A (p.Ala20419Asp)
c.61175C>A (p.Ala20392Asp)
c.42938C>A (p.Ala14313Asp)
c.32792C>A (p.Ala10931Asp)
2g.178576090C>ACA349665251TTN,TTN-AS1c.62338G>T (p.Ala20780Ser)
c.43423G>T (p.Ala14475Ser)
c.43222G>T (p.Ala14408Ser)
c.42847G>T (p.Ala14283Ser)
c.70042G>T (p.Ala23348Ser)
c.65119G>T (p.Ala21707Ser)
n.596+4641C>A
n.2044-6482C>A
c.69139G>T (p.Ala23047Ser)
c.43033G>T (p.Ala14345Ser)
c.42892G>T (p.Ala14298Ser)
c.68935G>T (p.Ala22979Ser)
c.64333G>T (p.Ala21445Ser)
c.64330G>T (p.Ala21444Ser)
c.61372G>T (p.Ala20458Ser)
c.42988G>T (p.Ala14330Ser)
c.64483G>T (p.Ala21495Ser)
c.64480G>T (p.Ala21494Ser)
c.63913G>T (p.Ala21305Ser)
c.61255G>T (p.Ala20419Ser)
c.61174G>T (p.Ala20392Ser)
c.42937G>T (p.Ala14313Ser)
c.32791G>T (p.Ala10931Ser)
2g.178576090C=CA1310533480TTN,TTN-AS1c.62338G= (p.Ala20780=)
c.43423G= (p.Ala14475=)
c.43222G= (p.Ala14408=)
c.42847G= (p.Ala14283=)
c.70042G= (p.Ala23348=)
c.65119G= (p.Ala21707=)
n.596+4641C=
n.2044-6482C=
c.69139G= (p.Ala23047=)
c.43033G= (p.Ala14345=)
c.42892G= (p.Ala14298=)
c.68935G= (p.Ala22979=)
c.64333G= (p.Ala21445=)
c.64330G= (p.Ala21444=)
c.61372G= (p.Ala20458=)
c.42988G= (p.Ala14330=)
c.64483G= (p.Ala21495=)
c.64480G= (p.Ala21494=)
c.63913G= (p.Ala21305=)
c.61255G= (p.Ala20419=)
c.61174G= (p.Ala20392=)
c.42937G= (p.Ala14313=)
c.32791G= (p.Ala10931=)
2g.178576090C>GCA349665255TTN,TTN-AS1c.62338G>C (p.Ala20780Pro)
c.43423G>C (p.Ala14475Pro)
c.43222G>C (p.Ala14408Pro)
c.42847G>C (p.Ala14283Pro)
c.70042G>C (p.Ala23348Pro)
c.65119G>C (p.Ala21707Pro)
n.596+4641C>G
n.2044-6482C>G
c.69139G>C (p.Ala23047Pro)
c.43033G>C (p.Ala14345Pro)
c.42892G>C (p.Ala14298Pro)
c.68935G>C (p.Ala22979Pro)
c.64333G>C (p.Ala21445Pro)
c.64330G>C (p.Ala21444Pro)
c.61372G>C (p.Ala20458Pro)
c.42988G>C (p.Ala14330Pro)
c.64483G>C (p.Ala21495Pro)
c.64480G>C (p.Ala21494Pro)
c.63913G>C (p.Ala21305Pro)
c.61255G>C (p.Ala20419Pro)
c.61174G>C (p.Ala20392Pro)
c.42937G>C (p.Ala14313Pro)
c.32791G>C (p.Ala10931Pro)
2g.178576090C>TCA237839TTN,TTN-AS1c.62338G>A (p.Ala20780Thr)
c.43423G>A (p.Ala14475Thr)
c.43222G>A (p.Ala14408Thr)
c.42847G>A (p.Ala14283Thr)
c.70042G>A (p.Ala23348Thr)
c.65119G>A (p.Ala21707Thr)
n.596+4641C>T
n.2044-6482C>T
c.69139G>A (p.Ala23047Thr)
c.43033G>A (p.Ala14345Thr)
c.42892G>A (p.Ala14298Thr)
c.68935G>A (p.Ala22979Thr)
c.64333G>A (p.Ala21445Thr)
c.64330G>A (p.Ala21444Thr)
c.61372G>A (p.Ala20458Thr)
c.42988G>A (p.Ala14330Thr)
c.64483G>A (p.Ala21495Thr)
c.64480G>A (p.Ala21494Thr)
c.63913G>A (p.Ala21305Thr)
c.61255G>A (p.Ala20419Thr)
c.61174G>A (p.Ala20392Thr)
c.42937G>A (p.Ala14313Thr)
c.32791G>A (p.Ala10931Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178576091A>CCA349665257TTN,TTN-AS1c.62337T>G (p.Asp20779Glu)
c.43422T>G (p.Asp14474Glu)
c.43221T>G (p.Asp14407Glu)
c.42846T>G (p.Asp14282Glu)
c.70041T>G (p.Asp23347Glu)
c.65118T>G (p.Asp21706Glu)
n.596+4642A>C
n.2044-6481A>C
c.69138T>G (p.Asp23046Glu)
c.43032T>G (p.Asp14344Glu)
c.42891T>G (p.Asp14297Glu)
c.68934T>G (p.Asp22978Glu)
c.64332T>G (p.Asp21444Glu)
c.64329T>G (p.Asp21443Glu)
c.61371T>G (p.Asp20457Glu)
c.42987T>G (p.Asp14329Glu)
c.64482T>G (p.Asp21494Glu)
c.64479T>G (p.Asp21493Glu)
c.63912T>G (p.Asp21304Glu)
c.61254T>G (p.Asp20418Glu)
c.61173T>G (p.Asp20391Glu)
c.42936T>G (p.Asp14312Glu)
c.32790T>G (p.Asp10930Glu)
2g.178576091A>GCA430258571TTN,TTN-AS1c.62337T>C (p.Asp20779=)
c.43422T>C (p.Asp14474=)
c.43221T>C (p.Asp14407=)
c.42846T>C (p.Asp14282=)
c.70041T>C (p.Asp23347=)
c.65118T>C (p.Asp21706=)
n.596+4642A>G
n.2044-6481A>G
c.69138T>C (p.Asp23046=)
c.43032T>C (p.Asp14344=)
c.42891T>C (p.Asp14297=)
c.68934T>C (p.Asp22978=)
c.64332T>C (p.Asp21444=)
c.64329T>C (p.Asp21443=)
c.61371T>C (p.Asp20457=)
c.42987T>C (p.Asp14329=)
c.64482T>C (p.Asp21494=)
c.64479T>C (p.Asp21493=)
c.63912T>C (p.Asp21304=)
c.61254T>C (p.Asp20418=)
c.61173T>C (p.Asp20391=)
c.42936T>C (p.Asp14312=)
c.32790T>C (p.Asp10930=)
2g.178576091A>TCA349665258TTN,TTN-AS1c.62337T>A (p.Asp20779Glu)
c.43422T>A (p.Asp14474Glu)
c.43221T>A (p.Asp14407Glu)
c.42846T>A (p.Asp14282Glu)
c.70041T>A (p.Asp23347Glu)
c.65118T>A (p.Asp21706Glu)
n.596+4642A>T
n.2044-6481A>T
c.69138T>A (p.Asp23046Glu)
c.43032T>A (p.Asp14344Glu)
c.42891T>A (p.Asp14297Glu)
c.68934T>A (p.Asp22978Glu)
c.64332T>A (p.Asp21444Glu)
c.64329T>A (p.Asp21443Glu)
c.61371T>A (p.Asp20457Glu)
c.42987T>A (p.Asp14329Glu)
c.64482T>A (p.Asp21494Glu)
c.64479T>A (p.Asp21493Glu)
c.63912T>A (p.Asp21304Glu)
c.61254T>A (p.Asp20418Glu)
c.61173T>A (p.Asp20391Glu)
c.42936T>A (p.Asp14312Glu)
c.32790T>A (p.Asp10930Glu)
2g.178576092T>ACA349665261TTN,TTN-AS1c.62336A>T (p.Asp20779Val)
c.43421A>T (p.Asp14474Val)
c.43220A>T (p.Asp14407Val)
c.42845A>T (p.Asp14282Val)
c.70040A>T (p.Asp23347Val)
c.65117A>T (p.Asp21706Val)
n.596+4643T>A
n.2044-6480T>A
c.69137A>T (p.Asp23046Val)
c.43031A>T (p.Asp14344Val)
c.42890A>T (p.Asp14297Val)
c.68933A>T (p.Asp22978Val)
c.64331A>T (p.Asp21444Val)
c.64328A>T (p.Asp21443Val)
c.61370A>T (p.Asp20457Val)
c.42986A>T (p.Asp14329Val)
c.64481A>T (p.Asp21494Val)
c.64478A>T (p.Asp21493Val)
c.63911A>T (p.Asp21304Val)
c.61253A>T (p.Asp20418Val)
c.61172A>T (p.Asp20391Val)
c.42935A>T (p.Asp14312Val)
c.32789A>T (p.Asp10930Val)
2g.178576092T>CCA349665263TTN,TTN-AS1c.62336A>G (p.Asp20779Gly)
c.43421A>G (p.Asp14474Gly)
c.43220A>G (p.Asp14407Gly)
c.42845A>G (p.Asp14282Gly)
c.70040A>G (p.Asp23347Gly)
c.65117A>G (p.Asp21706Gly)
n.596+4643T>C
n.2044-6480T>C
c.69137A>G (p.Asp23046Gly)
c.43031A>G (p.Asp14344Gly)
c.42890A>G (p.Asp14297Gly)
c.68933A>G (p.Asp22978Gly)
c.64331A>G (p.Asp21444Gly)
c.64328A>G (p.Asp21443Gly)
c.61370A>G (p.Asp20457Gly)
c.42986A>G (p.Asp14329Gly)
c.64481A>G (p.Asp21494Gly)
c.64478A>G (p.Asp21493Gly)
c.63911A>G (p.Asp21304Gly)
c.61253A>G (p.Asp20418Gly)
c.61172A>G (p.Asp20391Gly)
c.42935A>G (p.Asp14312Gly)
c.32789A>G (p.Asp10930Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178576092T>GCA349665264TTN,TTN-AS1c.62336A>C (p.Asp20779Ala)
c.43421A>C (p.Asp14474Ala)
c.43220A>C (p.Asp14407Ala)
c.42845A>C (p.Asp14282Ala)
c.70040A>C (p.Asp23347Ala)
c.65117A>C (p.Asp21706Ala)
n.596+4643T>G
n.2044-6480T>G
c.69137A>C (p.Asp23046Ala)
c.43031A>C (p.Asp14344Ala)
c.42890A>C (p.Asp14297Ala)
c.68933A>C (p.Asp22978Ala)
c.64331A>C (p.Asp21444Ala)
c.64328A>C (p.Asp21443Ala)
c.61370A>C (p.Asp20457Ala)
c.42986A>C (p.Asp14329Ala)
c.64481A>C (p.Asp21494Ala)
c.64478A>C (p.Asp21493Ala)
c.63911A>C (p.Asp21304Ala)
c.61253A>C (p.Asp20418Ala)
c.61172A>C (p.Asp20391Ala)
c.42935A>C (p.Asp14312Ala)
c.32789A>C (p.Asp10930Ala)
2g.178576092T=CA1310533481TTN,TTN-AS1c.62336A= (p.Asp20779=)
c.43421A= (p.Asp14474=)
c.43220A= (p.Asp14407=)
c.42845A= (p.Asp14282=)
c.70040A= (p.Asp23347=)
c.65117A= (p.Asp21706=)
n.596+4643T=
n.2044-6480T=
c.69137A= (p.Asp23046=)
c.43031A= (p.Asp14344=)
c.42890A= (p.Asp14297=)
c.68933A= (p.Asp22978=)
c.64331A= (p.Asp21444=)
c.64328A= (p.Asp21443=)
c.61370A= (p.Asp20457=)
c.42986A= (p.Asp14329=)
c.64481A= (p.Asp21494=)
c.64478A= (p.Asp21493=)
c.63911A= (p.Asp21304=)
c.61253A= (p.Asp20418=)
c.61172A= (p.Asp20391=)
c.42935A= (p.Asp14312=)
c.32789A= (p.Asp10930=)
2g.178576093C>ACA349665267TTN,TTN-AS1c.62335G>T (p.Asp20779Tyr)
c.43420G>T (p.Asp14474Tyr)
c.43219G>T (p.Asp14407Tyr)
c.42844G>T (p.Asp14282Tyr)
c.70039G>T (p.Asp23347Tyr)
c.65116G>T (p.Asp21706Tyr)
n.596+4644C>A
n.2044-6479C>A
c.69136G>T (p.Asp23046Tyr)
c.43030G>T (p.Asp14344Tyr)
c.42889G>T (p.Asp14297Tyr)
c.68932G>T (p.Asp22978Tyr)
c.64330G>T (p.Asp21444Tyr)
c.64327G>T (p.Asp21443Tyr)
c.61369G>T (p.Asp20457Tyr)
c.42985G>T (p.Asp14329Tyr)
c.64480G>T (p.Asp21494Tyr)
c.64477G>T (p.Asp21493Tyr)
c.63910G>T (p.Asp21304Tyr)
c.61252G>T (p.Asp20418Tyr)
c.61171G>T (p.Asp20391Tyr)
c.42934G>T (p.Asp14312Tyr)
c.32788G>T (p.Asp10930Tyr)
2g.178576093C=CA1310533482TTN,TTN-AS1c.62335G= (p.Asp20779=)
c.43420G= (p.Asp14474=)
c.43219G= (p.Asp14407=)
c.42844G= (p.Asp14282=)
c.70039G= (p.Asp23347=)
c.65116G= (p.Asp21706=)
n.596+4644C=
n.2044-6479C=
c.69136G= (p.Asp23046=)
c.43030G= (p.Asp14344=)
c.42889G= (p.Asp14297=)
c.68932G= (p.Asp22978=)
c.64330G= (p.Asp21444=)
c.64327G= (p.Asp21443=)
c.61369G= (p.Asp20457=)
c.42985G= (p.Asp14329=)
c.64480G= (p.Asp21494=)
c.64477G= (p.Asp21493=)
c.63910G= (p.Asp21304=)
c.61252G= (p.Asp20418=)
c.61171G= (p.Asp20391=)
c.42934G= (p.Asp14312=)
c.32788G= (p.Asp10930=)
2g.178576093C>GCA1990847TTN,TTN-AS1c.62335G>C (p.Asp20779His)
c.43420G>C (p.Asp14474His)
c.43219G>C (p.Asp14407His)
c.42844G>C (p.Asp14282His)
c.70039G>C (p.Asp23347His)
c.65116G>C (p.Asp21706His)
n.596+4644C>G
n.2044-6479C>G
c.69136G>C (p.Asp23046His)
c.43030G>C (p.Asp14344His)
c.42889G>C (p.Asp14297His)
c.68932G>C (p.Asp22978His)
c.64330G>C (p.Asp21444His)
c.64327G>C (p.Asp21443His)
c.61369G>C (p.Asp20457His)
c.42985G>C (p.Asp14329His)
c.64480G>C (p.Asp21494His)
c.64477G>C (p.Asp21493His)
c.63910G>C (p.Asp21304His)
c.61252G>C (p.Asp20418His)
c.61171G>C (p.Asp20391His)
c.42934G>C (p.Asp14312His)
c.32788G>C (p.Asp10930His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178576093C>TCA349665269TTN,TTN-AS1c.62335G>A (p.Asp20779Asn)
c.43420G>A (p.Asp14474Asn)
c.43219G>A (p.Asp14407Asn)
c.42844G>A (p.Asp14282Asn)
c.70039G>A (p.Asp23347Asn)
c.65116G>A (p.Asp21706Asn)
n.596+4644C>T
n.2044-6479C>T
c.69136G>A (p.Asp23046Asn)
c.43030G>A (p.Asp14344Asn)
c.42889G>A (p.Asp14297Asn)
c.68932G>A (p.Asp22978Asn)
c.64330G>A (p.Asp21444Asn)
c.64327G>A (p.Asp21443Asn)
c.61369G>A (p.Asp20457Asn)
c.42985G>A (p.Asp14329Asn)
c.64480G>A (p.Asp21494Asn)
c.64477G>A (p.Asp21493Asn)
c.63910G>A (p.Asp21304Asn)
c.61252G>A (p.Asp20418Asn)
c.61171G>A (p.Asp20391Asn)
c.42934G>A (p.Asp14312Asn)
c.32788G>A (p.Asp10930Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178576094T>ACA430258575TTN,TTN-AS1c.62334A>T (p.Leu20778=)
c.43419A>T (p.Leu14473=)
c.43218A>T (p.Leu14406=)
c.42843A>T (p.Leu14281=)
c.70038A>T (p.Leu23346=)
c.65115A>T (p.Leu21705=)
n.596+4645T>A
n.2044-6478T>A
c.69135A>T (p.Leu23045=)
c.43029A>T (p.Leu14343=)
c.42888A>T (p.Leu14296=)
c.68931A>T (p.Leu22977=)
c.64329A>T (p.Leu21443=)
c.64326A>T (p.Leu21442=)
c.61368A>T (p.Leu20456=)
c.42984A>T (p.Leu14328=)
c.64479A>T (p.Leu21493=)
c.64476A>T (p.Leu21492=)
c.63909A>T (p.Leu21303=)
c.61251A>T (p.Leu20417=)
c.61170A>T (p.Leu20390=)
c.42933A>T (p.Leu14311=)
c.32787A>T (p.Leu10929=)
2g.178576094T>CCA430258576TTN,TTN-AS1c.62334A>G (p.Leu20778=)
c.43419A>G (p.Leu14473=)
c.43218A>G (p.Leu14406=)
c.42843A>G (p.Leu14281=)
c.70038A>G (p.Leu23346=)
c.65115A>G (p.Leu21705=)
n.596+4645T>C
n.2044-6478T>C
c.69135A>G (p.Leu23045=)
c.43029A>G (p.Leu14343=)
c.42888A>G (p.Leu14296=)
c.68931A>G (p.Leu22977=)
c.64329A>G (p.Leu21443=)
c.64326A>G (p.Leu21442=)
c.61368A>G (p.Leu20456=)
c.42984A>G (p.Leu14328=)
c.64479A>G (p.Leu21493=)
c.64476A>G (p.Leu21492=)
c.63909A>G (p.Leu21303=)
c.61251A>G (p.Leu20417=)
c.61170A>G (p.Leu20390=)
c.42933A>G (p.Leu14311=)
c.32787A>G (p.Leu10929=)
2g.178576094T>GCA430258577TTN,TTN-AS1c.62334A>C (p.Leu20778=)
c.43419A>C (p.Leu14473=)
c.43218A>C (p.Leu14406=)
c.42843A>C (p.Leu14281=)
c.70038A>C (p.Leu23346=)
c.65115A>C (p.Leu21705=)
n.596+4645T>G
n.2044-6478T>G
c.69135A>C (p.Leu23045=)
c.43029A>C (p.Leu14343=)
c.42888A>C (p.Leu14296=)
c.68931A>C (p.Leu22977=)
c.64329A>C (p.Leu21443=)
c.64326A>C (p.Leu21442=)
c.61368A>C (p.Leu20456=)
c.42984A>C (p.Leu14328=)
c.64479A>C (p.Leu21493=)
c.64476A>C (p.Leu21492=)
c.63909A>C (p.Leu21303=)
c.61251A>C (p.Leu20417=)
c.61170A>C (p.Leu20390=)
c.42933A>C (p.Leu14311=)
c.32787A>C (p.Leu10929=)

Number of alleles fetched