Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530431G>A | CA1985151 | TTN,TTN-AS1 | c.98480C>T (p.Ser32827Leu) c.79565C>T (p.Ser26522Leu) c.79364C>T (p.Ser26455Leu) c.78989C>T (p.Ser26330Leu) c.106184C>T (p.Ser35395Leu) c.101261C>T (p.Ser33754Leu) n.446+6795G>A n.220-5301G>A c.105281C>T (p.Ser35094Leu) c.79175C>T (p.Ser26392Leu) c.79034C>T (p.Ser26345Leu) c.105077C>T (p.Ser35026Leu) c.100475C>T (p.Ser33492Leu) c.100472C>T (p.Ser33491Leu) c.97514C>T (p.Ser32505Leu) c.79130C>T (p.Ser26377Leu) c.100625C>T (p.Ser33542Leu) c.100622C>T (p.Ser33541Leu) c.100055C>T (p.Ser33352Leu) c.97397C>T (p.Ser32466Leu) c.97316C>T (p.Ser32439Leu) c.79079C>T (p.Ser26360Leu) c.68933C>T (p.Ser22978Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530431G>C | CA349406726 | TTN,TTN-AS1 | c.98480C>G (p.Ser32827Ter) c.79565C>G (p.Ser26522Ter) c.79364C>G (p.Ser26455Ter) c.78989C>G (p.Ser26330Ter) c.106184C>G (p.Ser35395Ter) c.101261C>G (p.Ser33754Ter) n.446+6795G>C n.220-5301G>C c.105281C>G (p.Ser35094Ter) c.79175C>G (p.Ser26392Ter) c.79034C>G (p.Ser26345Ter) c.105077C>G (p.Ser35026Ter) c.100475C>G (p.Ser33492Ter) c.100472C>G (p.Ser33491Ter) c.97514C>G (p.Ser32505Ter) c.79130C>G (p.Ser26377Ter) c.100625C>G (p.Ser33542Ter) c.100622C>G (p.Ser33541Ter) c.100055C>G (p.Ser33352Ter) c.97397C>G (p.Ser32466Ter) c.97316C>G (p.Ser32439Ter) c.79079C>G (p.Ser26360Ter) c.68933C>G (p.Ser22978Ter) | |
2 | g.178530431G= | CA1310514628 | TTN,TTN-AS1 | c.98480C= (p.Ser32827=) c.79565C= (p.Ser26522=) c.79364C= (p.Ser26455=) c.78989C= (p.Ser26330=) c.106184C= (p.Ser35395=) c.101261C= (p.Ser33754=) n.446+6795G= n.220-5301G= c.105281C= (p.Ser35094=) c.79175C= (p.Ser26392=) c.79034C= (p.Ser26345=) c.105077C= (p.Ser35026=) c.100475C= (p.Ser33492=) c.100472C= (p.Ser33491=) c.97514C= (p.Ser32505=) c.79130C= (p.Ser26377=) c.100625C= (p.Ser33542=) c.100622C= (p.Ser33541=) c.100055C= (p.Ser33352=) c.97397C= (p.Ser32466=) c.97316C= (p.Ser32439=) c.79079C= (p.Ser26360=) c.68933C= (p.Ser22978=) | |
2 | g.178530431G>T | CA349406728 | TTN,TTN-AS1 | c.98480C>A (p.Ser32827Ter) c.79565C>A (p.Ser26522Ter) c.79364C>A (p.Ser26455Ter) c.78989C>A (p.Ser26330Ter) c.106184C>A (p.Ser35395Ter) c.101261C>A (p.Ser33754Ter) n.446+6795G>T n.220-5301G>T c.105281C>A (p.Ser35094Ter) c.79175C>A (p.Ser26392Ter) c.79034C>A (p.Ser26345Ter) c.105077C>A (p.Ser35026Ter) c.100475C>A (p.Ser33492Ter) c.100472C>A (p.Ser33491Ter) c.97514C>A (p.Ser32505Ter) c.79130C>A (p.Ser26377Ter) c.100625C>A (p.Ser33542Ter) c.100622C>A (p.Ser33541Ter) c.100055C>A (p.Ser33352Ter) c.97397C>A (p.Ser32466Ter) c.97316C>A (p.Ser32439Ter) c.79079C>A (p.Ser26360Ter) c.68933C>A (p.Ser22978Ter) | |
2 | g.178530432A>C | CA349406730 | TTN,TTN-AS1 | c.98479T>G (p.Ser32827Ala) c.79564T>G (p.Ser26522Ala) c.79363T>G (p.Ser26455Ala) c.78988T>G (p.Ser26330Ala) c.106183T>G (p.Ser35395Ala) c.101260T>G (p.Ser33754Ala) n.446+6796A>C n.220-5300A>C c.105280T>G (p.Ser35094Ala) c.79174T>G (p.Ser26392Ala) c.79033T>G (p.Ser26345Ala) c.105076T>G (p.Ser35026Ala) c.100474T>G (p.Ser33492Ala) c.100471T>G (p.Ser33491Ala) c.97513T>G (p.Ser32505Ala) c.79129T>G (p.Ser26377Ala) c.100624T>G (p.Ser33542Ala) c.100621T>G (p.Ser33541Ala) c.100054T>G (p.Ser33352Ala) c.97396T>G (p.Ser32466Ala) c.97315T>G (p.Ser32439Ala) c.79078T>G (p.Ser26360Ala) c.68932T>G (p.Ser22978Ala) | |
2 | g.178530432A>G | CA349406732 | TTN,TTN-AS1 | c.98479T>C (p.Ser32827Pro) c.79564T>C (p.Ser26522Pro) c.79363T>C (p.Ser26455Pro) c.78988T>C (p.Ser26330Pro) c.106183T>C (p.Ser35395Pro) c.101260T>C (p.Ser33754Pro) n.446+6796A>G n.220-5300A>G c.105280T>C (p.Ser35094Pro) c.79174T>C (p.Ser26392Pro) c.79033T>C (p.Ser26345Pro) c.105076T>C (p.Ser35026Pro) c.100474T>C (p.Ser33492Pro) c.100471T>C (p.Ser33491Pro) c.97513T>C (p.Ser32505Pro) c.79129T>C (p.Ser26377Pro) c.100624T>C (p.Ser33542Pro) c.100621T>C (p.Ser33541Pro) c.100054T>C (p.Ser33352Pro) c.97396T>C (p.Ser32466Pro) c.97315T>C (p.Ser32439Pro) c.79078T>C (p.Ser26360Pro) c.68932T>C (p.Ser22978Pro) | |
2 | g.178530432A>T | CA349406734 | TTN,TTN-AS1 | c.98479T>A (p.Ser32827Thr) c.79564T>A (p.Ser26522Thr) c.79363T>A (p.Ser26455Thr) c.78988T>A (p.Ser26330Thr) c.106183T>A (p.Ser35395Thr) c.101260T>A (p.Ser33754Thr) n.446+6796A>T n.220-5300A>T c.105280T>A (p.Ser35094Thr) c.79174T>A (p.Ser26392Thr) c.79033T>A (p.Ser26345Thr) c.105076T>A (p.Ser35026Thr) c.100474T>A (p.Ser33492Thr) c.100471T>A (p.Ser33491Thr) c.97513T>A (p.Ser32505Thr) c.79129T>A (p.Ser26377Thr) c.100624T>A (p.Ser33542Thr) c.100621T>A (p.Ser33541Thr) c.100054T>A (p.Ser33352Thr) c.97396T>A (p.Ser32466Thr) c.97315T>A (p.Ser32439Thr) c.79078T>A (p.Ser26360Thr) c.68932T>A (p.Ser22978Thr) | |
2 | g.178530433T>A | CA349406736 | TTN,TTN-AS1 | c.98478A>T (p.Lys32826Asn) c.79563A>T (p.Lys26521Asn) c.79362A>T (p.Lys26454Asn) c.78987A>T (p.Lys26329Asn) c.106182A>T (p.Lys35394Asn) c.101259A>T (p.Lys33753Asn) n.446+6797T>A n.220-5299T>A c.105279A>T (p.Lys35093Asn) c.79173A>T (p.Lys26391Asn) c.79032A>T (p.Lys26344Asn) c.105075A>T (p.Lys35025Asn) c.100473A>T (p.Lys33491Asn) c.100470A>T (p.Lys33490Asn) c.97512A>T (p.Lys32504Asn) c.79128A>T (p.Lys26376Asn) c.100623A>T (p.Lys33541Asn) c.100620A>T (p.Lys33540Asn) c.100053A>T (p.Lys33351Asn) c.97395A>T (p.Lys32465Asn) c.97314A>T (p.Lys32438Asn) c.79077A>T (p.Lys26359Asn) c.68931A>T (p.Lys22977Asn) | |
2 | g.178530433T>C | CA430235354 | TTN,TTN-AS1 | c.98478A>G (p.Lys32826=) c.79563A>G (p.Lys26521=) c.79362A>G (p.Lys26454=) c.78987A>G (p.Lys26329=) c.106182A>G (p.Lys35394=) c.101259A>G (p.Lys33753=) n.446+6797T>C n.220-5299T>C c.105279A>G (p.Lys35093=) c.79173A>G (p.Lys26391=) c.79032A>G (p.Lys26344=) c.105075A>G (p.Lys35025=) c.100473A>G (p.Lys33491=) c.100470A>G (p.Lys33490=) c.97512A>G (p.Lys32504=) c.79128A>G (p.Lys26376=) c.100623A>G (p.Lys33541=) c.100620A>G (p.Lys33540=) c.100053A>G (p.Lys33351=) c.97395A>G (p.Lys32465=) c.97314A>G (p.Lys32438=) c.79077A>G (p.Lys26359=) c.68931A>G (p.Lys22977=) | gnomAD v4 |
2 | g.178530433T>G | CA349406739 | TTN,TTN-AS1 | c.98478A>C (p.Lys32826Asn) c.79563A>C (p.Lys26521Asn) c.79362A>C (p.Lys26454Asn) c.78987A>C (p.Lys26329Asn) c.106182A>C (p.Lys35394Asn) c.101259A>C (p.Lys33753Asn) n.446+6797T>G n.220-5299T>G c.105279A>C (p.Lys35093Asn) c.79173A>C (p.Lys26391Asn) c.79032A>C (p.Lys26344Asn) c.105075A>C (p.Lys35025Asn) c.100473A>C (p.Lys33491Asn) c.100470A>C (p.Lys33490Asn) c.97512A>C (p.Lys32504Asn) c.79128A>C (p.Lys26376Asn) c.100623A>C (p.Lys33541Asn) c.100620A>C (p.Lys33540Asn) c.100053A>C (p.Lys33351Asn) c.97395A>C (p.Lys32465Asn) c.97314A>C (p.Lys32438Asn) c.79077A>C (p.Lys26359Asn) c.68931A>C (p.Lys22977Asn) | |
2 | g.178530434T>A | CA349406741 | TTN,TTN-AS1 | c.98477A>T (p.Lys32826Ile) c.79562A>T (p.Lys26521Ile) c.79361A>T (p.Lys26454Ile) c.78986A>T (p.Lys26329Ile) c.106181A>T (p.Lys35394Ile) c.101258A>T (p.Lys33753Ile) n.446+6798T>A n.220-5298T>A c.105278A>T (p.Lys35093Ile) c.79172A>T (p.Lys26391Ile) c.79031A>T (p.Lys26344Ile) c.105074A>T (p.Lys35025Ile) c.100472A>T (p.Lys33491Ile) c.100469A>T (p.Lys33490Ile) c.97511A>T (p.Lys32504Ile) c.79127A>T (p.Lys26376Ile) c.100622A>T (p.Lys33541Ile) c.100619A>T (p.Lys33540Ile) c.100052A>T (p.Lys33351Ile) c.97394A>T (p.Lys32465Ile) c.97313A>T (p.Lys32438Ile) c.79076A>T (p.Lys26359Ile) c.68930A>T (p.Lys22977Ile) | |
2 | g.178530434T>C | CA349406744 | TTN,TTN-AS1 | c.98477A>G (p.Lys32826Arg) c.79562A>G (p.Lys26521Arg) c.79361A>G (p.Lys26454Arg) c.78986A>G (p.Lys26329Arg) c.106181A>G (p.Lys35394Arg) c.101258A>G (p.Lys33753Arg) n.446+6798T>C n.220-5298T>C c.105278A>G (p.Lys35093Arg) c.79172A>G (p.Lys26391Arg) c.79031A>G (p.Lys26344Arg) c.105074A>G (p.Lys35025Arg) c.100472A>G (p.Lys33491Arg) c.100469A>G (p.Lys33490Arg) c.97511A>G (p.Lys32504Arg) c.79127A>G (p.Lys26376Arg) c.100622A>G (p.Lys33541Arg) c.100619A>G (p.Lys33540Arg) c.100052A>G (p.Lys33351Arg) c.97394A>G (p.Lys32465Arg) c.97313A>G (p.Lys32438Arg) c.79076A>G (p.Lys26359Arg) c.68930A>G (p.Lys22977Arg) | |
2 | g.178530434T>G | CA349406747 | TTN,TTN-AS1 | c.98477A>C (p.Lys32826Thr) c.79562A>C (p.Lys26521Thr) c.79361A>C (p.Lys26454Thr) c.78986A>C (p.Lys26329Thr) c.106181A>C (p.Lys35394Thr) c.101258A>C (p.Lys33753Thr) n.446+6798T>G n.220-5298T>G c.105278A>C (p.Lys35093Thr) c.79172A>C (p.Lys26391Thr) c.79031A>C (p.Lys26344Thr) c.105074A>C (p.Lys35025Thr) c.100472A>C (p.Lys33491Thr) c.100469A>C (p.Lys33490Thr) c.97511A>C (p.Lys32504Thr) c.79127A>C (p.Lys26376Thr) c.100622A>C (p.Lys33541Thr) c.100619A>C (p.Lys33540Thr) c.100052A>C (p.Lys33351Thr) c.97394A>C (p.Lys32465Thr) c.97313A>C (p.Lys32438Thr) c.79076A>C (p.Lys26359Thr) c.68930A>C (p.Lys22977Thr) | |
2 | g.178530435T>A | CA349406749 | TTN,TTN-AS1 | c.98476A>T (p.Lys32826Ter) c.79561A>T (p.Lys26521Ter) c.79360A>T (p.Lys26454Ter) c.78985A>T (p.Lys26329Ter) c.106180A>T (p.Lys35394Ter) c.101257A>T (p.Lys33753Ter) n.446+6799T>A n.220-5297T>A c.105277A>T (p.Lys35093Ter) c.79171A>T (p.Lys26391Ter) c.79030A>T (p.Lys26344Ter) c.105073A>T (p.Lys35025Ter) c.100471A>T (p.Lys33491Ter) c.100468A>T (p.Lys33490Ter) c.97510A>T (p.Lys32504Ter) c.79126A>T (p.Lys26376Ter) c.100621A>T (p.Lys33541Ter) c.100618A>T (p.Lys33540Ter) c.100051A>T (p.Lys33351Ter) c.97393A>T (p.Lys32465Ter) c.97312A>T (p.Lys32438Ter) c.79075A>T (p.Lys26359Ter) c.68929A>T (p.Lys22977Ter) | |
2 | g.178530435T>C | CA349406752 | TTN,TTN-AS1 | c.98476A>G (p.Lys32826Glu) c.79561A>G (p.Lys26521Glu) c.79360A>G (p.Lys26454Glu) c.78985A>G (p.Lys26329Glu) c.106180A>G (p.Lys35394Glu) c.101257A>G (p.Lys33753Glu) n.446+6799T>C n.220-5297T>C c.105277A>G (p.Lys35093Glu) c.79171A>G (p.Lys26391Glu) c.79030A>G (p.Lys26344Glu) c.105073A>G (p.Lys35025Glu) c.100471A>G (p.Lys33491Glu) c.100468A>G (p.Lys33490Glu) c.97510A>G (p.Lys32504Glu) c.79126A>G (p.Lys26376Glu) c.100621A>G (p.Lys33541Glu) c.100618A>G (p.Lys33540Glu) c.100051A>G (p.Lys33351Glu) c.97393A>G (p.Lys32465Glu) c.97312A>G (p.Lys32438Glu) c.79075A>G (p.Lys26359Glu) c.68929A>G (p.Lys22977Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530435T>G | CA1985152 | TTN,TTN-AS1 | c.98476A>C (p.Lys32826Gln) c.79561A>C (p.Lys26521Gln) c.79360A>C (p.Lys26454Gln) c.78985A>C (p.Lys26329Gln) c.106180A>C (p.Lys35394Gln) c.101257A>C (p.Lys33753Gln) n.446+6799T>G n.220-5297T>G c.105277A>C (p.Lys35093Gln) c.79171A>C (p.Lys26391Gln) c.79030A>C (p.Lys26344Gln) c.105073A>C (p.Lys35025Gln) c.100471A>C (p.Lys33491Gln) c.100468A>C (p.Lys33490Gln) c.97510A>C (p.Lys32504Gln) c.79126A>C (p.Lys26376Gln) c.100621A>C (p.Lys33541Gln) c.100618A>C (p.Lys33540Gln) c.100051A>C (p.Lys33351Gln) c.97393A>C (p.Lys32465Gln) c.97312A>C (p.Lys32438Gln) c.79075A>C (p.Lys26359Gln) c.68929A>C (p.Lys22977Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530435T= | CA1310514629 | TTN,TTN-AS1 | c.98476A= (p.Lys32826=) c.79561A= (p.Lys26521=) c.79360A= (p.Lys26454=) c.78985A= (p.Lys26329=) c.106180A= (p.Lys35394=) c.101257A= (p.Lys33753=) n.446+6799T= n.220-5297T= c.105277A= (p.Lys35093=) c.79171A= (p.Lys26391=) c.79030A= (p.Lys26344=) c.105073A= (p.Lys35025=) c.100471A= (p.Lys33491=) c.100468A= (p.Lys33490=) c.97510A= (p.Lys32504=) c.79126A= (p.Lys26376=) c.100621A= (p.Lys33541=) c.100618A= (p.Lys33540=) c.100051A= (p.Lys33351=) c.97393A= (p.Lys32465=) c.97312A= (p.Lys32438=) c.79075A= (p.Lys26359=) c.68929A= (p.Lys22977=) | |
2 | g.178530436C>A | CA349406755 | TTN,TTN-AS1 | c.98475G>T (p.Lys32825Asn) c.79560G>T (p.Lys26520Asn) c.79359G>T (p.Lys26453Asn) c.78984G>T (p.Lys26328Asn) c.106179G>T (p.Lys35393Asn) c.101256G>T (p.Lys33752Asn) n.446+6800C>A n.220-5296C>A c.105276G>T (p.Lys35092Asn) c.79170G>T (p.Lys26390Asn) c.79029G>T (p.Lys26343Asn) c.105072G>T (p.Lys35024Asn) c.100470G>T (p.Lys33490Asn) c.100467G>T (p.Lys33489Asn) c.97509G>T (p.Lys32503Asn) c.79125G>T (p.Lys26375Asn) c.100620G>T (p.Lys33540Asn) c.100617G>T (p.Lys33539Asn) c.100050G>T (p.Lys33350Asn) c.97392G>T (p.Lys32464Asn) c.97311G>T (p.Lys32437Asn) c.79074G>T (p.Lys26358Asn) c.68928G>T (p.Lys22976Asn) | |
2 | g.178530436C= | CA1310514631 | TTN,TTN-AS1 | c.98475G= (p.Lys32825=) c.79560G= (p.Lys26520=) c.79359G= (p.Lys26453=) c.78984G= (p.Lys26328=) c.106179G= (p.Lys35393=) c.101256G= (p.Lys33752=) n.446+6800C= n.220-5296C= c.105276G= (p.Lys35092=) c.79170G= (p.Lys26390=) c.79029G= (p.Lys26343=) c.105072G= (p.Lys35024=) c.100470G= (p.Lys33490=) c.100467G= (p.Lys33489=) c.97509G= (p.Lys32503=) c.79125G= (p.Lys26375=) c.100620G= (p.Lys33540=) c.100617G= (p.Lys33539=) c.100050G= (p.Lys33350=) c.97392G= (p.Lys32464=) c.97311G= (p.Lys32437=) c.79074G= (p.Lys26358=) c.68928G= (p.Lys22976=) | |
2 | g.178530436C>G | CA349406757 | TTN,TTN-AS1 | c.98475G>C (p.Lys32825Asn) c.79560G>C (p.Lys26520Asn) c.79359G>C (p.Lys26453Asn) c.78984G>C (p.Lys26328Asn) c.106179G>C (p.Lys35393Asn) c.101256G>C (p.Lys33752Asn) n.446+6800C>G n.220-5296C>G c.105276G>C (p.Lys35092Asn) c.79170G>C (p.Lys26390Asn) c.79029G>C (p.Lys26343Asn) c.105072G>C (p.Lys35024Asn) c.100470G>C (p.Lys33490Asn) c.100467G>C (p.Lys33489Asn) c.97509G>C (p.Lys32503Asn) c.79125G>C (p.Lys26375Asn) c.100620G>C (p.Lys33540Asn) c.100617G>C (p.Lys33539Asn) c.100050G>C (p.Lys33350Asn) c.97392G>C (p.Lys32464Asn) c.97311G>C (p.Lys32437Asn) c.79074G>C (p.Lys26358Asn) c.68928G>C (p.Lys22976Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530436C>T | CA430234987 | TTN,TTN-AS1 | c.98475G>A (p.Lys32825=) c.79560G>A (p.Lys26520=) c.79359G>A (p.Lys26453=) c.78984G>A (p.Lys26328=) c.106179G>A (p.Lys35393=) c.101256G>A (p.Lys33752=) n.446+6800C>T n.220-5296C>T c.105276G>A (p.Lys35092=) c.79170G>A (p.Lys26390=) c.79029G>A (p.Lys26343=) c.105072G>A (p.Lys35024=) c.100470G>A (p.Lys33490=) c.100467G>A (p.Lys33489=) c.97509G>A (p.Lys32503=) c.79125G>A (p.Lys26375=) c.100620G>A (p.Lys33540=) c.100617G>A (p.Lys33539=) c.100050G>A (p.Lys33350=) c.97392G>A (p.Lys32464=) c.97311G>A (p.Lys32437=) c.79074G>A (p.Lys26358=) c.68928G>A (p.Lys22976=) | |
2 | g.178530437T>A | CA349406759 | TTN,TTN-AS1 | c.98474A>T (p.Lys32825Met) c.79559A>T (p.Lys26520Met) c.79358A>T (p.Lys26453Met) c.78983A>T (p.Lys26328Met) c.106178A>T (p.Lys35393Met) c.101255A>T (p.Lys33752Met) n.446+6801T>A n.220-5295T>A c.105275A>T (p.Lys35092Met) c.79169A>T (p.Lys26390Met) c.79028A>T (p.Lys26343Met) c.105071A>T (p.Lys35024Met) c.100469A>T (p.Lys33490Met) c.100466A>T (p.Lys33489Met) c.97508A>T (p.Lys32503Met) c.79124A>T (p.Lys26375Met) c.100619A>T (p.Lys33540Met) c.100616A>T (p.Lys33539Met) c.100049A>T (p.Lys33350Met) c.97391A>T (p.Lys32464Met) c.97310A>T (p.Lys32437Met) c.79073A>T (p.Lys26358Met) c.68927A>T (p.Lys22976Met) | |
2 | g.178530437T>C | CA349406767 | TTN,TTN-AS1 | c.98474A>G (p.Lys32825Arg) c.79559A>G (p.Lys26520Arg) c.79358A>G (p.Lys26453Arg) c.78983A>G (p.Lys26328Arg) c.106178A>G (p.Lys35393Arg) c.101255A>G (p.Lys33752Arg) n.446+6801T>C n.220-5295T>C c.105275A>G (p.Lys35092Arg) c.79169A>G (p.Lys26390Arg) c.79028A>G (p.Lys26343Arg) c.105071A>G (p.Lys35024Arg) c.100469A>G (p.Lys33490Arg) c.100466A>G (p.Lys33489Arg) c.97508A>G (p.Lys32503Arg) c.79124A>G (p.Lys26375Arg) c.100619A>G (p.Lys33540Arg) c.100616A>G (p.Lys33539Arg) c.100049A>G (p.Lys33350Arg) c.97391A>G (p.Lys32464Arg) c.97310A>G (p.Lys32437Arg) c.79073A>G (p.Lys26358Arg) c.68927A>G (p.Lys22976Arg) | |
2 | g.178530437T>G | CA349406769 | TTN,TTN-AS1 | c.98474A>C (p.Lys32825Thr) c.79559A>C (p.Lys26520Thr) c.79358A>C (p.Lys26453Thr) c.78983A>C (p.Lys26328Thr) c.106178A>C (p.Lys35393Thr) c.101255A>C (p.Lys33752Thr) n.446+6801T>G n.220-5295T>G c.105275A>C (p.Lys35092Thr) c.79169A>C (p.Lys26390Thr) c.79028A>C (p.Lys26343Thr) c.105071A>C (p.Lys35024Thr) c.100469A>C (p.Lys33490Thr) c.100466A>C (p.Lys33489Thr) c.97508A>C (p.Lys32503Thr) c.79124A>C (p.Lys26375Thr) c.100619A>C (p.Lys33540Thr) c.100616A>C (p.Lys33539Thr) c.100049A>C (p.Lys33350Thr) c.97391A>C (p.Lys32464Thr) c.97310A>C (p.Lys32437Thr) c.79073A>C (p.Lys26358Thr) c.68927A>C (p.Lys22976Thr) | |
2 | g.178530438T>A | CA349406772 | TTN,TTN-AS1 | c.98473A>T (p.Lys32825Ter) c.79558A>T (p.Lys26520Ter) c.79357A>T (p.Lys26453Ter) c.78982A>T (p.Lys26328Ter) c.106177A>T (p.Lys35393Ter) c.101254A>T (p.Lys33752Ter) n.446+6802T>A n.220-5294T>A c.105274A>T (p.Lys35092Ter) c.79168A>T (p.Lys26390Ter) c.79027A>T (p.Lys26343Ter) c.105070A>T (p.Lys35024Ter) c.100468A>T (p.Lys33490Ter) c.100465A>T (p.Lys33489Ter) c.97507A>T (p.Lys32503Ter) c.79123A>T (p.Lys26375Ter) c.100618A>T (p.Lys33540Ter) c.100615A>T (p.Lys33539Ter) c.100048A>T (p.Lys33350Ter) c.97390A>T (p.Lys32464Ter) c.97309A>T (p.Lys32437Ter) c.79072A>T (p.Lys26358Ter) c.68926A>T (p.Lys22976Ter) | |
2 | g.178530438T>C | CA349406774 | TTN,TTN-AS1 | c.98473A>G (p.Lys32825Glu) c.79558A>G (p.Lys26520Glu) c.79357A>G (p.Lys26453Glu) c.78982A>G (p.Lys26328Glu) c.106177A>G (p.Lys35393Glu) c.101254A>G (p.Lys33752Glu) n.446+6802T>C n.220-5294T>C c.105274A>G (p.Lys35092Glu) c.79168A>G (p.Lys26390Glu) c.79027A>G (p.Lys26343Glu) c.105070A>G (p.Lys35024Glu) c.100468A>G (p.Lys33490Glu) c.100465A>G (p.Lys33489Glu) c.97507A>G (p.Lys32503Glu) c.79123A>G (p.Lys26375Glu) c.100618A>G (p.Lys33540Glu) c.100615A>G (p.Lys33539Glu) c.100048A>G (p.Lys33350Glu) c.97390A>G (p.Lys32464Glu) c.97309A>G (p.Lys32437Glu) c.79072A>G (p.Lys26358Glu) c.68926A>G (p.Lys22976Glu) | |
2 | g.178530438T>G | CA349406776 | TTN,TTN-AS1 | c.98473A>C (p.Lys32825Gln) c.79558A>C (p.Lys26520Gln) c.79357A>C (p.Lys26453Gln) c.78982A>C (p.Lys26328Gln) c.106177A>C (p.Lys35393Gln) c.101254A>C (p.Lys33752Gln) n.446+6802T>G n.220-5294T>G c.105274A>C (p.Lys35092Gln) c.79168A>C (p.Lys26390Gln) c.79027A>C (p.Lys26343Gln) c.105070A>C (p.Lys35024Gln) c.100468A>C (p.Lys33490Gln) c.100465A>C (p.Lys33489Gln) c.97507A>C (p.Lys32503Gln) c.79123A>C (p.Lys26375Gln) c.100618A>C (p.Lys33540Gln) c.100615A>C (p.Lys33539Gln) c.100048A>C (p.Lys33350Gln) c.97390A>C (p.Lys32464Gln) c.97309A>C (p.Lys32437Gln) c.79072A>C (p.Lys26358Gln) c.68926A>C (p.Lys22976Gln) | gnomAD v4 |
2 | g.178530439A>C | CA430234988 | TTN,TTN-AS1 | c.98472T>G (p.Thr32824=) c.79557T>G (p.Thr26519=) c.79356T>G (p.Thr26452=) c.78981T>G (p.Thr26327=) c.106176T>G (p.Thr35392=) c.101253T>G (p.Thr33751=) n.446+6803A>C n.220-5293A>C c.105273T>G (p.Thr35091=) c.79167T>G (p.Thr26389=) c.79026T>G (p.Thr26342=) c.105069T>G (p.Thr35023=) c.100467T>G (p.Thr33489=) c.100464T>G (p.Thr33488=) c.97506T>G (p.Thr32502=) c.79122T>G (p.Thr26374=) c.100617T>G (p.Thr33539=) c.100614T>G (p.Thr33538=) c.100047T>G (p.Thr33349=) c.97389T>G (p.Thr32463=) c.97308T>G (p.Thr32436=) c.79071T>G (p.Thr26357=) c.68925T>G (p.Thr22975=) | |
2 | g.178530439A>G | CA430234989 | TTN,TTN-AS1 | c.98472T>C (p.Thr32824=) c.79557T>C (p.Thr26519=) c.79356T>C (p.Thr26452=) c.78981T>C (p.Thr26327=) c.106176T>C (p.Thr35392=) c.101253T>C (p.Thr33751=) n.446+6803A>G n.220-5293A>G c.105273T>C (p.Thr35091=) c.79167T>C (p.Thr26389=) c.79026T>C (p.Thr26342=) c.105069T>C (p.Thr35023=) c.100467T>C (p.Thr33489=) c.100464T>C (p.Thr33488=) c.97506T>C (p.Thr32502=) c.79122T>C (p.Thr26374=) c.100617T>C (p.Thr33539=) c.100614T>C (p.Thr33538=) c.100047T>C (p.Thr33349=) c.97389T>C (p.Thr32463=) c.97308T>C (p.Thr32436=) c.79071T>C (p.Thr26357=) c.68925T>C (p.Thr22975=) | gnomAD v4 |
2 | g.178530439A>T | CA430234990 | TTN,TTN-AS1 | c.98472T>A (p.Thr32824=) c.79557T>A (p.Thr26519=) c.79356T>A (p.Thr26452=) c.78981T>A (p.Thr26327=) c.106176T>A (p.Thr35392=) c.101253T>A (p.Thr33751=) n.446+6803A>T n.220-5293A>T c.105273T>A (p.Thr35091=) c.79167T>A (p.Thr26389=) c.79026T>A (p.Thr26342=) c.105069T>A (p.Thr35023=) c.100467T>A (p.Thr33489=) c.100464T>A (p.Thr33488=) c.97506T>A (p.Thr32502=) c.79122T>A (p.Thr26374=) c.100617T>A (p.Thr33539=) c.100614T>A (p.Thr33538=) c.100047T>A (p.Thr33349=) c.97389T>A (p.Thr32463=) c.97308T>A (p.Thr32436=) c.79071T>A (p.Thr26357=) c.68925T>A (p.Thr22975=) | |
2 | g.178530440G>A | CA349406779 | TTN,TTN-AS1 | c.98471C>T (p.Thr32824Ile) c.79556C>T (p.Thr26519Ile) c.79355C>T (p.Thr26452Ile) c.78980C>T (p.Thr26327Ile) c.106175C>T (p.Thr35392Ile) c.101252C>T (p.Thr33751Ile) n.446+6804G>A n.220-5292G>A c.105272C>T (p.Thr35091Ile) c.79166C>T (p.Thr26389Ile) c.79025C>T (p.Thr26342Ile) c.105068C>T (p.Thr35023Ile) c.100466C>T (p.Thr33489Ile) c.100463C>T (p.Thr33488Ile) c.97505C>T (p.Thr32502Ile) c.79121C>T (p.Thr26374Ile) c.100616C>T (p.Thr33539Ile) c.100613C>T (p.Thr33538Ile) c.100046C>T (p.Thr33349Ile) c.97388C>T (p.Thr32463Ile) c.97307C>T (p.Thr32436Ile) c.79070C>T (p.Thr26357Ile) c.68924C>T (p.Thr22975Ile) | |
2 | g.178530440G>C | CA349406781 | TTN,TTN-AS1 | c.98471C>G (p.Thr32824Ser) c.79556C>G (p.Thr26519Ser) c.79355C>G (p.Thr26452Ser) c.78980C>G (p.Thr26327Ser) c.106175C>G (p.Thr35392Ser) c.101252C>G (p.Thr33751Ser) n.446+6804G>C n.220-5292G>C c.105272C>G (p.Thr35091Ser) c.79166C>G (p.Thr26389Ser) c.79025C>G (p.Thr26342Ser) c.105068C>G (p.Thr35023Ser) c.100466C>G (p.Thr33489Ser) c.100463C>G (p.Thr33488Ser) c.97505C>G (p.Thr32502Ser) c.79121C>G (p.Thr26374Ser) c.100616C>G (p.Thr33539Ser) c.100613C>G (p.Thr33538Ser) c.100046C>G (p.Thr33349Ser) c.97388C>G (p.Thr32463Ser) c.97307C>G (p.Thr32436Ser) c.79070C>G (p.Thr26357Ser) c.68924C>G (p.Thr22975Ser) | dbSNP |
2 | g.178530440G= | CA1310514633 | TTN,TTN-AS1 | c.98471C= (p.Thr32824=) c.79556C= (p.Thr26519=) c.79355C= (p.Thr26452=) c.78980C= (p.Thr26327=) c.106175C= (p.Thr35392=) c.101252C= (p.Thr33751=) n.446+6804G= n.220-5292G= c.105272C= (p.Thr35091=) c.79166C= (p.Thr26389=) c.79025C= (p.Thr26342=) c.105068C= (p.Thr35023=) c.100466C= (p.Thr33489=) c.100463C= (p.Thr33488=) c.97505C= (p.Thr32502=) c.79121C= (p.Thr26374=) c.100616C= (p.Thr33539=) c.100613C= (p.Thr33538=) c.100046C= (p.Thr33349=) c.97388C= (p.Thr32463=) c.97307C= (p.Thr32436=) c.79070C= (p.Thr26357=) c.68924C= (p.Thr22975=) | |
2 | g.178530440G>T | CA349406783 | TTN,TTN-AS1 | c.98471C>A (p.Thr32824Asn) c.79556C>A (p.Thr26519Asn) c.79355C>A (p.Thr26452Asn) c.78980C>A (p.Thr26327Asn) c.106175C>A (p.Thr35392Asn) c.101252C>A (p.Thr33751Asn) n.446+6804G>T n.220-5292G>T c.105272C>A (p.Thr35091Asn) c.79166C>A (p.Thr26389Asn) c.79025C>A (p.Thr26342Asn) c.105068C>A (p.Thr35023Asn) c.100466C>A (p.Thr33489Asn) c.100463C>A (p.Thr33488Asn) c.97505C>A (p.Thr32502Asn) c.79121C>A (p.Thr26374Asn) c.100616C>A (p.Thr33539Asn) c.100613C>A (p.Thr33538Asn) c.100046C>A (p.Thr33349Asn) c.97388C>A (p.Thr32463Asn) c.97307C>A (p.Thr32436Asn) c.79070C>A (p.Thr26357Asn) c.68924C>A (p.Thr22975Asn) | dbSNP |
2 | g.178530441T>A | CA349406785 | TTN,TTN-AS1 | c.98470A>T (p.Thr32824Ser) c.79555A>T (p.Thr26519Ser) c.79354A>T (p.Thr26452Ser) c.78979A>T (p.Thr26327Ser) c.106174A>T (p.Thr35392Ser) c.101251A>T (p.Thr33751Ser) n.446+6805T>A n.220-5291T>A c.105271A>T (p.Thr35091Ser) c.79165A>T (p.Thr26389Ser) c.79024A>T (p.Thr26342Ser) c.105067A>T (p.Thr35023Ser) c.100465A>T (p.Thr33489Ser) c.100462A>T (p.Thr33488Ser) c.97504A>T (p.Thr32502Ser) c.79120A>T (p.Thr26374Ser) c.100615A>T (p.Thr33539Ser) c.100612A>T (p.Thr33538Ser) c.100045A>T (p.Thr33349Ser) c.97387A>T (p.Thr32463Ser) c.97306A>T (p.Thr32436Ser) c.79069A>T (p.Thr26357Ser) c.68923A>T (p.Thr22975Ser) | |
2 | g.178530441T>C | CA349406787 | TTN,TTN-AS1 | c.98470A>G (p.Thr32824Ala) c.79555A>G (p.Thr26519Ala) c.79354A>G (p.Thr26452Ala) c.78979A>G (p.Thr26327Ala) c.106174A>G (p.Thr35392Ala) c.101251A>G (p.Thr33751Ala) n.446+6805T>C n.220-5291T>C c.105271A>G (p.Thr35091Ala) c.79165A>G (p.Thr26389Ala) c.79024A>G (p.Thr26342Ala) c.105067A>G (p.Thr35023Ala) c.100465A>G (p.Thr33489Ala) c.100462A>G (p.Thr33488Ala) c.97504A>G (p.Thr32502Ala) c.79120A>G (p.Thr26374Ala) c.100615A>G (p.Thr33539Ala) c.100612A>G (p.Thr33538Ala) c.100045A>G (p.Thr33349Ala) c.97387A>G (p.Thr32463Ala) c.97306A>G (p.Thr32436Ala) c.79069A>G (p.Thr26357Ala) c.68923A>G (p.Thr22975Ala) | |
2 | g.178530441T>G | CA349406789 | TTN,TTN-AS1 | c.98470A>C (p.Thr32824Pro) c.79555A>C (p.Thr26519Pro) c.79354A>C (p.Thr26452Pro) c.78979A>C (p.Thr26327Pro) c.106174A>C (p.Thr35392Pro) c.101251A>C (p.Thr33751Pro) n.446+6805T>G n.220-5291T>G c.105271A>C (p.Thr35091Pro) c.79165A>C (p.Thr26389Pro) c.79024A>C (p.Thr26342Pro) c.105067A>C (p.Thr35023Pro) c.100465A>C (p.Thr33489Pro) c.100462A>C (p.Thr33488Pro) c.97504A>C (p.Thr32502Pro) c.79120A>C (p.Thr26374Pro) c.100615A>C (p.Thr33539Pro) c.100612A>C (p.Thr33538Pro) c.100045A>C (p.Thr33349Pro) c.97387A>C (p.Thr32463Pro) c.97306A>C (p.Thr32436Pro) c.79069A>C (p.Thr26357Pro) c.68923A>C (p.Thr22975Pro) | |
2 | g.178530442T>A | CA349406794 | TTN,TTN-AS1 | c.98469A>T (p.Glu32823Asp) c.79554A>T (p.Glu26518Asp) c.79353A>T (p.Glu26451Asp) c.78978A>T (p.Glu26326Asp) c.106173A>T (p.Glu35391Asp) c.101250A>T (p.Glu33750Asp) n.446+6806T>A n.220-5290T>A c.105270A>T (p.Glu35090Asp) c.79164A>T (p.Glu26388Asp) c.79023A>T (p.Glu26341Asp) c.105066A>T (p.Glu35022Asp) c.100464A>T (p.Glu33488Asp) c.100461A>T (p.Glu33487Asp) c.97503A>T (p.Glu32501Asp) c.79119A>T (p.Glu26373Asp) c.100614A>T (p.Glu33538Asp) c.100611A>T (p.Glu33537Asp) c.100044A>T (p.Glu33348Asp) c.97386A>T (p.Glu32462Asp) c.97305A>T (p.Glu32435Asp) c.79068A>T (p.Glu26356Asp) c.68922A>T (p.Glu22974Asp) | |
2 | g.178530442T>C | CA430234992 | TTN,TTN-AS1 | c.98469A>G (p.Glu32823=) c.79554A>G (p.Glu26518=) c.79353A>G (p.Glu26451=) c.78978A>G (p.Glu26326=) c.106173A>G (p.Glu35391=) c.101250A>G (p.Glu33750=) n.446+6806T>C n.220-5290T>C c.105270A>G (p.Glu35090=) c.79164A>G (p.Glu26388=) c.79023A>G (p.Glu26341=) c.105066A>G (p.Glu35022=) c.100464A>G (p.Glu33488=) c.100461A>G (p.Glu33487=) c.97503A>G (p.Glu32501=) c.79119A>G (p.Glu26373=) c.100614A>G (p.Glu33538=) c.100611A>G (p.Glu33537=) c.100044A>G (p.Glu33348=) c.97386A>G (p.Glu32462=) c.97305A>G (p.Glu32435=) c.79068A>G (p.Glu26356=) c.68922A>G (p.Glu22974=) | |
2 | g.178530442T>G | CA349406792 | TTN,TTN-AS1 | c.98469A>C (p.Glu32823Asp) c.79554A>C (p.Glu26518Asp) c.79353A>C (p.Glu26451Asp) c.78978A>C (p.Glu26326Asp) c.106173A>C (p.Glu35391Asp) c.101250A>C (p.Glu33750Asp) n.446+6806T>G n.220-5290T>G c.105270A>C (p.Glu35090Asp) c.79164A>C (p.Glu26388Asp) c.79023A>C (p.Glu26341Asp) c.105066A>C (p.Glu35022Asp) c.100464A>C (p.Glu33488Asp) c.100461A>C (p.Glu33487Asp) c.97503A>C (p.Glu32501Asp) c.79119A>C (p.Glu26373Asp) c.100614A>C (p.Glu33538Asp) c.100611A>C (p.Glu33537Asp) c.100044A>C (p.Glu33348Asp) c.97386A>C (p.Glu32462Asp) c.97305A>C (p.Glu32435Asp) c.79068A>C (p.Glu26356Asp) c.68922A>C (p.Glu22974Asp) | |
2 | g.178530443T>A | CA349406797 | TTN,TTN-AS1 | c.98468A>T (p.Glu32823Val) c.79553A>T (p.Glu26518Val) c.79352A>T (p.Glu26451Val) c.78977A>T (p.Glu26326Val) c.106172A>T (p.Glu35391Val) c.101249A>T (p.Glu33750Val) n.446+6807T>A n.220-5289T>A c.105269A>T (p.Glu35090Val) c.79163A>T (p.Glu26388Val) c.79022A>T (p.Glu26341Val) c.105065A>T (p.Glu35022Val) c.100463A>T (p.Glu33488Val) c.100460A>T (p.Glu33487Val) c.97502A>T (p.Glu32501Val) c.79118A>T (p.Glu26373Val) c.100613A>T (p.Glu33538Val) c.100610A>T (p.Glu33537Val) c.100043A>T (p.Glu33348Val) c.97385A>T (p.Glu32462Val) c.97304A>T (p.Glu32435Val) c.79067A>T (p.Glu26356Val) c.68921A>T (p.Glu22974Val) | |
2 | g.178530443T>C | CA349406798 | TTN,TTN-AS1 | c.98468A>G (p.Glu32823Gly) c.79553A>G (p.Glu26518Gly) c.79352A>G (p.Glu26451Gly) c.78977A>G (p.Glu26326Gly) c.106172A>G (p.Glu35391Gly) c.101249A>G (p.Glu33750Gly) n.446+6807T>C n.220-5289T>C c.105269A>G (p.Glu35090Gly) c.79163A>G (p.Glu26388Gly) c.79022A>G (p.Glu26341Gly) c.105065A>G (p.Glu35022Gly) c.100463A>G (p.Glu33488Gly) c.100460A>G (p.Glu33487Gly) c.97502A>G (p.Glu32501Gly) c.79118A>G (p.Glu26373Gly) c.100613A>G (p.Glu33538Gly) c.100610A>G (p.Glu33537Gly) c.100043A>G (p.Glu33348Gly) c.97385A>G (p.Glu32462Gly) c.97304A>G (p.Glu32435Gly) c.79067A>G (p.Glu26356Gly) c.68921A>G (p.Glu22974Gly) | |
2 | g.178530443T>G | CA349406800 | TTN,TTN-AS1 | c.98468A>C (p.Glu32823Ala) c.79553A>C (p.Glu26518Ala) c.79352A>C (p.Glu26451Ala) c.78977A>C (p.Glu26326Ala) c.106172A>C (p.Glu35391Ala) c.101249A>C (p.Glu33750Ala) n.446+6807T>G n.220-5289T>G c.105269A>C (p.Glu35090Ala) c.79163A>C (p.Glu26388Ala) c.79022A>C (p.Glu26341Ala) c.105065A>C (p.Glu35022Ala) c.100463A>C (p.Glu33488Ala) c.100460A>C (p.Glu33487Ala) c.97502A>C (p.Glu32501Ala) c.79118A>C (p.Glu26373Ala) c.100613A>C (p.Glu33538Ala) c.100610A>C (p.Glu33537Ala) c.100043A>C (p.Glu33348Ala) c.97385A>C (p.Glu32462Ala) c.97304A>C (p.Glu32435Ala) c.79067A>C (p.Glu26356Ala) c.68921A>C (p.Glu22974Ala) | |
2 | g.178530444C>A | CA349406803 | TTN,TTN-AS1 | c.98467G>T (p.Glu32823Ter) c.79552G>T (p.Glu26518Ter) c.79351G>T (p.Glu26451Ter) c.78976G>T (p.Glu26326Ter) c.106171G>T (p.Glu35391Ter) c.101248G>T (p.Glu33750Ter) n.446+6808C>A n.220-5288C>A c.105268G>T (p.Glu35090Ter) c.79162G>T (p.Glu26388Ter) c.79021G>T (p.Glu26341Ter) c.105064G>T (p.Glu35022Ter) c.100462G>T (p.Glu33488Ter) c.100459G>T (p.Glu33487Ter) c.97501G>T (p.Glu32501Ter) c.79117G>T (p.Glu26373Ter) c.100612G>T (p.Glu33538Ter) c.100609G>T (p.Glu33537Ter) c.100042G>T (p.Glu33348Ter) c.97384G>T (p.Glu32462Ter) c.97303G>T (p.Glu32435Ter) c.79066G>T (p.Glu26356Ter) c.68920G>T (p.Glu22974Ter) | |
2 | g.178530444C>G | CA349406805 | TTN,TTN-AS1 | c.98467G>C (p.Glu32823Gln) c.79552G>C (p.Glu26518Gln) c.79351G>C (p.Glu26451Gln) c.78976G>C (p.Glu26326Gln) c.106171G>C (p.Glu35391Gln) c.101248G>C (p.Glu33750Gln) n.446+6808C>G n.220-5288C>G c.105268G>C (p.Glu35090Gln) c.79162G>C (p.Glu26388Gln) c.79021G>C (p.Glu26341Gln) c.105064G>C (p.Glu35022Gln) c.100462G>C (p.Glu33488Gln) c.100459G>C (p.Glu33487Gln) c.97501G>C (p.Glu32501Gln) c.79117G>C (p.Glu26373Gln) c.100612G>C (p.Glu33538Gln) c.100609G>C (p.Glu33537Gln) c.100042G>C (p.Glu33348Gln) c.97384G>C (p.Glu32462Gln) c.97303G>C (p.Glu32435Gln) c.79066G>C (p.Glu26356Gln) c.68920G>C (p.Glu22974Gln) | |
2 | g.178530444C>T | CA349406807 | TTN,TTN-AS1 | c.98467G>A (p.Glu32823Lys) c.79552G>A (p.Glu26518Lys) c.79351G>A (p.Glu26451Lys) c.78976G>A (p.Glu26326Lys) c.106171G>A (p.Glu35391Lys) c.101248G>A (p.Glu33750Lys) n.446+6808C>T n.220-5288C>T c.105268G>A (p.Glu35090Lys) c.79162G>A (p.Glu26388Lys) c.79021G>A (p.Glu26341Lys) c.105064G>A (p.Glu35022Lys) c.100462G>A (p.Glu33488Lys) c.100459G>A (p.Glu33487Lys) c.97501G>A (p.Glu32501Lys) c.79117G>A (p.Glu26373Lys) c.100612G>A (p.Glu33538Lys) c.100609G>A (p.Glu33537Lys) c.100042G>A (p.Glu33348Lys) c.97384G>A (p.Glu32462Lys) c.97303G>A (p.Glu32435Lys) c.79066G>A (p.Glu26356Lys) c.68920G>A (p.Glu22974Lys) | |
2 | g.178530445T>A | CA430234999 | TTN,TTN-AS1 | c.98466A>T (p.Ser32822=) c.79551A>T (p.Ser26517=) c.79350A>T (p.Ser26450=) c.78975A>T (p.Ser26325=) c.106170A>T (p.Ser35390=) c.101247A>T (p.Ser33749=) n.446+6809T>A n.220-5287T>A c.105267A>T (p.Ser35089=) c.79161A>T (p.Ser26387=) c.79020A>T (p.Ser26340=) c.105063A>T (p.Ser35021=) c.100461A>T (p.Ser33487=) c.100458A>T (p.Ser33486=) c.97500A>T (p.Ser32500=) c.79116A>T (p.Ser26372=) c.100611A>T (p.Ser33537=) c.100608A>T (p.Ser33536=) c.100041A>T (p.Ser33347=) c.97383A>T (p.Ser32461=) c.97302A>T (p.Ser32434=) c.79065A>T (p.Ser26355=) c.68919A>T (p.Ser22973=) | |
2 | g.178530445T>C | CA430234998 | TTN,TTN-AS1 | c.98466A>G (p.Ser32822=) c.79551A>G (p.Ser26517=) c.79350A>G (p.Ser26450=) c.78975A>G (p.Ser26325=) c.106170A>G (p.Ser35390=) c.101247A>G (p.Ser33749=) n.446+6809T>C n.220-5287T>C c.105267A>G (p.Ser35089=) c.79161A>G (p.Ser26387=) c.79020A>G (p.Ser26340=) c.105063A>G (p.Ser35021=) c.100461A>G (p.Ser33487=) c.100458A>G (p.Ser33486=) c.97500A>G (p.Ser32500=) c.79116A>G (p.Ser26372=) c.100611A>G (p.Ser33537=) c.100608A>G (p.Ser33536=) c.100041A>G (p.Ser33347=) c.97383A>G (p.Ser32461=) c.97302A>G (p.Ser32434=) c.79065A>G (p.Ser26355=) c.68919A>G (p.Ser22973=) | |
2 | g.178530445T>G | CA430234997 | TTN,TTN-AS1 | c.98466A>C (p.Ser32822=) c.79551A>C (p.Ser26517=) c.79350A>C (p.Ser26450=) c.78975A>C (p.Ser26325=) c.106170A>C (p.Ser35390=) c.101247A>C (p.Ser33749=) n.446+6809T>G n.220-5287T>G c.105267A>C (p.Ser35089=) c.79161A>C (p.Ser26387=) c.79020A>C (p.Ser26340=) c.105063A>C (p.Ser35021=) c.100461A>C (p.Ser33487=) c.100458A>C (p.Ser33486=) c.97500A>C (p.Ser32500=) c.79116A>C (p.Ser26372=) c.100611A>C (p.Ser33537=) c.100608A>C (p.Ser33536=) c.100041A>C (p.Ser33347=) c.97383A>C (p.Ser32461=) c.97302A>C (p.Ser32434=) c.79065A>C (p.Ser26355=) c.68919A>C (p.Ser22973=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530445T= | CA1310514636 | TTN,TTN-AS1 | c.98466A= (p.Ser32822=) c.79551A= (p.Ser26517=) c.79350A= (p.Ser26450=) c.78975A= (p.Ser26325=) c.106170A= (p.Ser35390=) c.101247A= (p.Ser33749=) n.446+6809T= n.220-5287T= c.105267A= (p.Ser35089=) c.79161A= (p.Ser26387=) c.79020A= (p.Ser26340=) c.105063A= (p.Ser35021=) c.100461A= (p.Ser33487=) c.100458A= (p.Ser33486=) c.97500A= (p.Ser32500=) c.79116A= (p.Ser26372=) c.100611A= (p.Ser33537=) c.100608A= (p.Ser33536=) c.100041A= (p.Ser33347=) c.97383A= (p.Ser32461=) c.97302A= (p.Ser32434=) c.79065A= (p.Ser26355=) c.68919A= (p.Ser22973=) | |
2 | g.178530446G>A | CA1985153 | TTN,TTN-AS1 | c.98465C>T (p.Ser32822Leu) c.79550C>T (p.Ser26517Leu) c.79349C>T (p.Ser26450Leu) c.78974C>T (p.Ser26325Leu) c.106169C>T (p.Ser35390Leu) c.101246C>T (p.Ser33749Leu) n.446+6810G>A n.220-5286G>A c.105266C>T (p.Ser35089Leu) c.79160C>T (p.Ser26387Leu) c.79019C>T (p.Ser26340Leu) c.105062C>T (p.Ser35021Leu) c.100460C>T (p.Ser33487Leu) c.100457C>T (p.Ser33486Leu) c.97499C>T (p.Ser32500Leu) c.79115C>T (p.Ser26372Leu) c.100610C>T (p.Ser33537Leu) c.100607C>T (p.Ser33536Leu) c.100040C>T (p.Ser33347Leu) c.97382C>T (p.Ser32461Leu) c.97301C>T (p.Ser32434Leu) c.79064C>T (p.Ser26355Leu) c.68918C>T (p.Ser22973Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530446G>C | CA349406811 | TTN,TTN-AS1 | c.98465C>G (p.Ser32822Ter) c.79550C>G (p.Ser26517Ter) c.79349C>G (p.Ser26450Ter) c.78974C>G (p.Ser26325Ter) c.106169C>G (p.Ser35390Ter) c.101246C>G (p.Ser33749Ter) n.446+6810G>C n.220-5286G>C c.105266C>G (p.Ser35089Ter) c.79160C>G (p.Ser26387Ter) c.79019C>G (p.Ser26340Ter) c.105062C>G (p.Ser35021Ter) c.100460C>G (p.Ser33487Ter) c.100457C>G (p.Ser33486Ter) c.97499C>G (p.Ser32500Ter) c.79115C>G (p.Ser26372Ter) c.100610C>G (p.Ser33537Ter) c.100607C>G (p.Ser33536Ter) c.100040C>G (p.Ser33347Ter) c.97382C>G (p.Ser32461Ter) c.97301C>G (p.Ser32434Ter) c.79064C>G (p.Ser26355Ter) c.68918C>G (p.Ser22973Ter) | |
2 | g.178530446G= | CA1310514637 | TTN,TTN-AS1 | c.98465C= (p.Ser32822=) c.79550C= (p.Ser26517=) c.79349C= (p.Ser26450=) c.78974C= (p.Ser26325=) c.106169C= (p.Ser35390=) c.101246C= (p.Ser33749=) n.446+6810G= n.220-5286G= c.105266C= (p.Ser35089=) c.79160C= (p.Ser26387=) c.79019C= (p.Ser26340=) c.105062C= (p.Ser35021=) c.100460C= (p.Ser33487=) c.100457C= (p.Ser33486=) c.97499C= (p.Ser32500=) c.79115C= (p.Ser26372=) c.100610C= (p.Ser33537=) c.100607C= (p.Ser33536=) c.100040C= (p.Ser33347=) c.97382C= (p.Ser32461=) c.97301C= (p.Ser32434=) c.79064C= (p.Ser26355=) c.68918C= (p.Ser22973=) | |
2 | g.178530446G>T | CA349406813 | TTN,TTN-AS1 | c.98465C>A (p.Ser32822Ter) c.79550C>A (p.Ser26517Ter) c.79349C>A (p.Ser26450Ter) c.78974C>A (p.Ser26325Ter) c.106169C>A (p.Ser35390Ter) c.101246C>A (p.Ser33749Ter) n.446+6810G>T n.220-5286G>T c.105266C>A (p.Ser35089Ter) c.79160C>A (p.Ser26387Ter) c.79019C>A (p.Ser26340Ter) c.105062C>A (p.Ser35021Ter) c.100460C>A (p.Ser33487Ter) c.100457C>A (p.Ser33486Ter) c.97499C>A (p.Ser32500Ter) c.79115C>A (p.Ser26372Ter) c.100610C>A (p.Ser33537Ter) c.100607C>A (p.Ser33536Ter) c.100040C>A (p.Ser33347Ter) c.97382C>A (p.Ser32461Ter) c.97301C>A (p.Ser32434Ter) c.79064C>A (p.Ser26355Ter) c.68918C>A (p.Ser22973Ter) | |
2 | g.178530447A>C | CA349406816 | TTN,TTN-AS1 | c.98464T>G (p.Ser32822Ala) c.79549T>G (p.Ser26517Ala) c.79348T>G (p.Ser26450Ala) c.78973T>G (p.Ser26325Ala) c.106168T>G (p.Ser35390Ala) c.101245T>G (p.Ser33749Ala) n.446+6811A>C n.220-5285A>C c.105265T>G (p.Ser35089Ala) c.79159T>G (p.Ser26387Ala) c.79018T>G (p.Ser26340Ala) c.105061T>G (p.Ser35021Ala) c.100459T>G (p.Ser33487Ala) c.100456T>G (p.Ser33486Ala) c.97498T>G (p.Ser32500Ala) c.79114T>G (p.Ser26372Ala) c.100609T>G (p.Ser33537Ala) c.100606T>G (p.Ser33536Ala) c.100039T>G (p.Ser33347Ala) c.97381T>G (p.Ser32461Ala) c.97300T>G (p.Ser32434Ala) c.79063T>G (p.Ser26355Ala) c.68917T>G (p.Ser22973Ala) | |
2 | g.178530447A>G | CA349406817 | TTN,TTN-AS1 | c.98464T>C (p.Ser32822Pro) c.79549T>C (p.Ser26517Pro) c.79348T>C (p.Ser26450Pro) c.78973T>C (p.Ser26325Pro) c.106168T>C (p.Ser35390Pro) c.101245T>C (p.Ser33749Pro) n.446+6811A>G n.220-5285A>G c.105265T>C (p.Ser35089Pro) c.79159T>C (p.Ser26387Pro) c.79018T>C (p.Ser26340Pro) c.105061T>C (p.Ser35021Pro) c.100459T>C (p.Ser33487Pro) c.100456T>C (p.Ser33486Pro) c.97498T>C (p.Ser32500Pro) c.79114T>C (p.Ser26372Pro) c.100609T>C (p.Ser33537Pro) c.100606T>C (p.Ser33536Pro) c.100039T>C (p.Ser33347Pro) c.97381T>C (p.Ser32461Pro) c.97300T>C (p.Ser32434Pro) c.79063T>C (p.Ser26355Pro) c.68917T>C (p.Ser22973Pro) | gnomAD v4 |
2 | g.178530447A>T | CA349406820 | TTN,TTN-AS1 | c.98464T>A (p.Ser32822Thr) c.79549T>A (p.Ser26517Thr) c.79348T>A (p.Ser26450Thr) c.78973T>A (p.Ser26325Thr) c.106168T>A (p.Ser35390Thr) c.101245T>A (p.Ser33749Thr) n.446+6811A>T n.220-5285A>T c.105265T>A (p.Ser35089Thr) c.79159T>A (p.Ser26387Thr) c.79018T>A (p.Ser26340Thr) c.105061T>A (p.Ser35021Thr) c.100459T>A (p.Ser33487Thr) c.100456T>A (p.Ser33486Thr) c.97498T>A (p.Ser32500Thr) c.79114T>A (p.Ser26372Thr) c.100609T>A (p.Ser33537Thr) c.100606T>A (p.Ser33536Thr) c.100039T>A (p.Ser33347Thr) c.97381T>A (p.Ser32461Thr) c.97300T>A (p.Ser32434Thr) c.79063T>A (p.Ser26355Thr) c.68917T>A (p.Ser22973Thr) | |
2 | g.178530448T>A | CA430235000 | TTN,TTN-AS1 | c.98463A>T (p.Ile32821=) c.79548A>T (p.Ile26516=) c.79347A>T (p.Ile26449=) c.78972A>T (p.Ile26324=) c.106167A>T (p.Ile35389=) c.101244A>T (p.Ile33748=) n.446+6812T>A n.220-5284T>A c.105264A>T (p.Ile35088=) c.79158A>T (p.Ile26386=) c.79017A>T (p.Ile26339=) c.105060A>T (p.Ile35020=) c.100458A>T (p.Ile33486=) c.100455A>T (p.Ile33485=) c.97497A>T (p.Ile32499=) c.79113A>T (p.Ile26371=) c.100608A>T (p.Ile33536=) c.100605A>T (p.Ile33535=) c.100038A>T (p.Ile33346=) c.97380A>T (p.Ile32460=) c.97299A>T (p.Ile32433=) c.79062A>T (p.Ile26354=) c.68916A>T (p.Ile22972=) | |
2 | g.178530448T>C | CA349406822 | TTN,TTN-AS1 | c.98463A>G (p.Ile32821Met) c.79548A>G (p.Ile26516Met) c.79347A>G (p.Ile26449Met) c.78972A>G (p.Ile26324Met) c.106167A>G (p.Ile35389Met) c.101244A>G (p.Ile33748Met) n.446+6812T>C n.220-5284T>C c.105264A>G (p.Ile35088Met) c.79158A>G (p.Ile26386Met) c.79017A>G (p.Ile26339Met) c.105060A>G (p.Ile35020Met) c.100458A>G (p.Ile33486Met) c.100455A>G (p.Ile33485Met) c.97497A>G (p.Ile32499Met) c.79113A>G (p.Ile26371Met) c.100608A>G (p.Ile33536Met) c.100605A>G (p.Ile33535Met) c.100038A>G (p.Ile33346Met) c.97380A>G (p.Ile32460Met) c.97299A>G (p.Ile32433Met) c.79062A>G (p.Ile26354Met) c.68916A>G (p.Ile22972Met) | |
2 | g.178530448T>G | CA430235002 | TTN,TTN-AS1 | c.98463A>C (p.Ile32821=) c.79548A>C (p.Ile26516=) c.79347A>C (p.Ile26449=) c.78972A>C (p.Ile26324=) c.106167A>C (p.Ile35389=) c.101244A>C (p.Ile33748=) n.446+6812T>G n.220-5284T>G c.105264A>C (p.Ile35088=) c.79158A>C (p.Ile26386=) c.79017A>C (p.Ile26339=) c.105060A>C (p.Ile35020=) c.100458A>C (p.Ile33486=) c.100455A>C (p.Ile33485=) c.97497A>C (p.Ile32499=) c.79113A>C (p.Ile26371=) c.100608A>C (p.Ile33536=) c.100605A>C (p.Ile33535=) c.100038A>C (p.Ile33346=) c.97380A>C (p.Ile32460=) c.97299A>C (p.Ile32433=) c.79062A>C (p.Ile26354=) c.68916A>C (p.Ile22972=) | |
2 | g.178530449A>C | CA349406829 | TTN,TTN-AS1 | c.98462T>G (p.Ile32821Arg) c.79547T>G (p.Ile26516Arg) c.79346T>G (p.Ile26449Arg) c.78971T>G (p.Ile26324Arg) c.106166T>G (p.Ile35389Arg) c.101243T>G (p.Ile33748Arg) n.446+6813A>C n.220-5283A>C c.105263T>G (p.Ile35088Arg) c.79157T>G (p.Ile26386Arg) c.79016T>G (p.Ile26339Arg) c.105059T>G (p.Ile35020Arg) c.100457T>G (p.Ile33486Arg) c.100454T>G (p.Ile33485Arg) c.97496T>G (p.Ile32499Arg) c.79112T>G (p.Ile26371Arg) c.100607T>G (p.Ile33536Arg) c.100604T>G (p.Ile33535Arg) c.100037T>G (p.Ile33346Arg) c.97379T>G (p.Ile32460Arg) c.97298T>G (p.Ile32433Arg) c.79061T>G (p.Ile26354Arg) c.68915T>G (p.Ile22972Arg) | |
2 | g.178530449A>G | CA349406827 | TTN,TTN-AS1 | c.98462T>C (p.Ile32821Thr) c.79547T>C (p.Ile26516Thr) c.79346T>C (p.Ile26449Thr) c.78971T>C (p.Ile26324Thr) c.106166T>C (p.Ile35389Thr) c.101243T>C (p.Ile33748Thr) n.446+6813A>G n.220-5283A>G c.105263T>C (p.Ile35088Thr) c.79157T>C (p.Ile26386Thr) c.79016T>C (p.Ile26339Thr) c.105059T>C (p.Ile35020Thr) c.100457T>C (p.Ile33486Thr) c.100454T>C (p.Ile33485Thr) c.97496T>C (p.Ile32499Thr) c.79112T>C (p.Ile26371Thr) c.100607T>C (p.Ile33536Thr) c.100604T>C (p.Ile33535Thr) c.100037T>C (p.Ile33346Thr) c.97379T>C (p.Ile32460Thr) c.97298T>C (p.Ile32433Thr) c.79061T>C (p.Ile26354Thr) c.68915T>C (p.Ile22972Thr) | gnomAD v4 |
2 | g.178530449A>T | CA349406825 | TTN,TTN-AS1 | c.98462T>A (p.Ile32821Lys) c.79547T>A (p.Ile26516Lys) c.79346T>A (p.Ile26449Lys) c.78971T>A (p.Ile26324Lys) c.106166T>A (p.Ile35389Lys) c.101243T>A (p.Ile33748Lys) n.446+6813A>T n.220-5283A>T c.105263T>A (p.Ile35088Lys) c.79157T>A (p.Ile26386Lys) c.79016T>A (p.Ile26339Lys) c.105059T>A (p.Ile35020Lys) c.100457T>A (p.Ile33486Lys) c.100454T>A (p.Ile33485Lys) c.97496T>A (p.Ile32499Lys) c.79112T>A (p.Ile26371Lys) c.100607T>A (p.Ile33536Lys) c.100604T>A (p.Ile33535Lys) c.100037T>A (p.Ile33346Lys) c.97379T>A (p.Ile32460Lys) c.97298T>A (p.Ile32433Lys) c.79061T>A (p.Ile26354Lys) c.68915T>A (p.Ile22972Lys) | |
2 | g.178530450T>A | CA349406831 | TTN,TTN-AS1 | c.98461A>T (p.Ile32821Leu) c.79546A>T (p.Ile26516Leu) c.79345A>T (p.Ile26449Leu) c.78970A>T (p.Ile26324Leu) c.106165A>T (p.Ile35389Leu) c.101242A>T (p.Ile33748Leu) n.446+6814T>A n.220-5282T>A c.105262A>T (p.Ile35088Leu) c.79156A>T (p.Ile26386Leu) c.79015A>T (p.Ile26339Leu) c.105058A>T (p.Ile35020Leu) c.100456A>T (p.Ile33486Leu) c.100453A>T (p.Ile33485Leu) c.97495A>T (p.Ile32499Leu) c.79111A>T (p.Ile26371Leu) c.100606A>T (p.Ile33536Leu) c.100603A>T (p.Ile33535Leu) c.100036A>T (p.Ile33346Leu) c.97378A>T (p.Ile32460Leu) c.97297A>T (p.Ile32433Leu) c.79060A>T (p.Ile26354Leu) c.68914A>T (p.Ile22972Leu) | |
2 | g.178530450T>C | CA349406833 | TTN,TTN-AS1 | c.98461A>G (p.Ile32821Val) c.79546A>G (p.Ile26516Val) c.79345A>G (p.Ile26449Val) c.78970A>G (p.Ile26324Val) c.106165A>G (p.Ile35389Val) c.101242A>G (p.Ile33748Val) n.446+6814T>C n.220-5282T>C c.105262A>G (p.Ile35088Val) c.79156A>G (p.Ile26386Val) c.79015A>G (p.Ile26339Val) c.105058A>G (p.Ile35020Val) c.100456A>G (p.Ile33486Val) c.100453A>G (p.Ile33485Val) c.97495A>G (p.Ile32499Val) c.79111A>G (p.Ile26371Val) c.100606A>G (p.Ile33536Val) c.100603A>G (p.Ile33535Val) c.100036A>G (p.Ile33346Val) c.97378A>G (p.Ile32460Val) c.97297A>G (p.Ile32433Val) c.79060A>G (p.Ile26354Val) c.68914A>G (p.Ile22972Val) | gnomAD v4 |
2 | g.178530450T>G | CA349406835 | TTN,TTN-AS1 | c.98461A>C (p.Ile32821Leu) c.79546A>C (p.Ile26516Leu) c.79345A>C (p.Ile26449Leu) c.78970A>C (p.Ile26324Leu) c.106165A>C (p.Ile35389Leu) c.101242A>C (p.Ile33748Leu) n.446+6814T>G n.220-5282T>G c.105262A>C (p.Ile35088Leu) c.79156A>C (p.Ile26386Leu) c.79015A>C (p.Ile26339Leu) c.105058A>C (p.Ile35020Leu) c.100456A>C (p.Ile33486Leu) c.100453A>C (p.Ile33485Leu) c.97495A>C (p.Ile32499Leu) c.79111A>C (p.Ile26371Leu) c.100606A>C (p.Ile33536Leu) c.100603A>C (p.Ile33535Leu) c.100036A>C (p.Ile33346Leu) c.97378A>C (p.Ile32460Leu) c.97297A>C (p.Ile32433Leu) c.79060A>C (p.Ile26354Leu) c.68914A>C (p.Ile22972Leu) | |
2 | g.178530451T>A | CA349406836 | TTN,TTN-AS1 | c.98460A>T (p.Lys32820Asn) c.79545A>T (p.Lys26515Asn) c.79344A>T (p.Lys26448Asn) c.78969A>T (p.Lys26323Asn) c.106164A>T (p.Lys35388Asn) c.101241A>T (p.Lys33747Asn) n.446+6815T>A n.220-5281T>A c.105261A>T (p.Lys35087Asn) c.79155A>T (p.Lys26385Asn) c.79014A>T (p.Lys26338Asn) c.105057A>T (p.Lys35019Asn) c.100455A>T (p.Lys33485Asn) c.100452A>T (p.Lys33484Asn) c.97494A>T (p.Lys32498Asn) c.79110A>T (p.Lys26370Asn) c.100605A>T (p.Lys33535Asn) c.100602A>T (p.Lys33534Asn) c.100035A>T (p.Lys33345Asn) c.97377A>T (p.Lys32459Asn) c.97296A>T (p.Lys32432Asn) c.79059A>T (p.Lys26353Asn) c.68913A>T (p.Lys22971Asn) | |
2 | g.178530451T>C | CA430235007 | TTN,TTN-AS1 | c.98460A>G (p.Lys32820=) c.79545A>G (p.Lys26515=) c.79344A>G (p.Lys26448=) c.78969A>G (p.Lys26323=) c.106164A>G (p.Lys35388=) c.101241A>G (p.Lys33747=) n.446+6815T>C n.220-5281T>C c.105261A>G (p.Lys35087=) c.79155A>G (p.Lys26385=) c.79014A>G (p.Lys26338=) c.105057A>G (p.Lys35019=) c.100455A>G (p.Lys33485=) c.100452A>G (p.Lys33484=) c.97494A>G (p.Lys32498=) c.79110A>G (p.Lys26370=) c.100605A>G (p.Lys33535=) c.100602A>G (p.Lys33534=) c.100035A>G (p.Lys33345=) c.97377A>G (p.Lys32459=) c.97296A>G (p.Lys32432=) c.79059A>G (p.Lys26353=) c.68913A>G (p.Lys22971=) | |
2 | g.178530451T>G | CA349406838 | TTN,TTN-AS1 | c.98460A>C (p.Lys32820Asn) c.79545A>C (p.Lys26515Asn) c.79344A>C (p.Lys26448Asn) c.78969A>C (p.Lys26323Asn) c.106164A>C (p.Lys35388Asn) c.101241A>C (p.Lys33747Asn) n.446+6815T>G n.220-5281T>G c.105261A>C (p.Lys35087Asn) c.79155A>C (p.Lys26385Asn) c.79014A>C (p.Lys26338Asn) c.105057A>C (p.Lys35019Asn) c.100455A>C (p.Lys33485Asn) c.100452A>C (p.Lys33484Asn) c.97494A>C (p.Lys32498Asn) c.79110A>C (p.Lys26370Asn) c.100605A>C (p.Lys33535Asn) c.100602A>C (p.Lys33534Asn) c.100035A>C (p.Lys33345Asn) c.97377A>C (p.Lys32459Asn) c.97296A>C (p.Lys32432Asn) c.79059A>C (p.Lys26353Asn) c.68913A>C (p.Lys22971Asn) | |
2 | g.178530452T>A | CA349406841 | TTN,TTN-AS1 | c.98459A>T (p.Lys32820Ile) c.79544A>T (p.Lys26515Ile) c.79343A>T (p.Lys26448Ile) c.78968A>T (p.Lys26323Ile) c.106163A>T (p.Lys35388Ile) c.101240A>T (p.Lys33747Ile) n.446+6816T>A n.220-5280T>A c.105260A>T (p.Lys35087Ile) c.79154A>T (p.Lys26385Ile) c.79013A>T (p.Lys26338Ile) c.105056A>T (p.Lys35019Ile) c.100454A>T (p.Lys33485Ile) c.100451A>T (p.Lys33484Ile) c.97493A>T (p.Lys32498Ile) c.79109A>T (p.Lys26370Ile) c.100604A>T (p.Lys33535Ile) c.100601A>T (p.Lys33534Ile) c.100034A>T (p.Lys33345Ile) c.97376A>T (p.Lys32459Ile) c.97295A>T (p.Lys32432Ile) c.79058A>T (p.Lys26353Ile) c.68912A>T (p.Lys22971Ile) | |
2 | g.178530452T>C | CA349406843 | TTN,TTN-AS1 | c.98459A>G (p.Lys32820Arg) c.79544A>G (p.Lys26515Arg) c.79343A>G (p.Lys26448Arg) c.78968A>G (p.Lys26323Arg) c.106163A>G (p.Lys35388Arg) c.101240A>G (p.Lys33747Arg) n.446+6816T>C n.220-5280T>C c.105260A>G (p.Lys35087Arg) c.79154A>G (p.Lys26385Arg) c.79013A>G (p.Lys26338Arg) c.105056A>G (p.Lys35019Arg) c.100454A>G (p.Lys33485Arg) c.100451A>G (p.Lys33484Arg) c.97493A>G (p.Lys32498Arg) c.79109A>G (p.Lys26370Arg) c.100604A>G (p.Lys33535Arg) c.100601A>G (p.Lys33534Arg) c.100034A>G (p.Lys33345Arg) c.97376A>G (p.Lys32459Arg) c.97295A>G (p.Lys32432Arg) c.79058A>G (p.Lys26353Arg) c.68912A>G (p.Lys22971Arg) | |
2 | g.178530452T>G | CA349406845 | TTN,TTN-AS1 | c.98459A>C (p.Lys32820Thr) c.79544A>C (p.Lys26515Thr) c.79343A>C (p.Lys26448Thr) c.78968A>C (p.Lys26323Thr) c.106163A>C (p.Lys35388Thr) c.101240A>C (p.Lys33747Thr) n.446+6816T>G n.220-5280T>G c.105260A>C (p.Lys35087Thr) c.79154A>C (p.Lys26385Thr) c.79013A>C (p.Lys26338Thr) c.105056A>C (p.Lys35019Thr) c.100454A>C (p.Lys33485Thr) c.100451A>C (p.Lys33484Thr) c.97493A>C (p.Lys32498Thr) c.79109A>C (p.Lys26370Thr) c.100604A>C (p.Lys33535Thr) c.100601A>C (p.Lys33534Thr) c.100034A>C (p.Lys33345Thr) c.97376A>C (p.Lys32459Thr) c.97295A>C (p.Lys32432Thr) c.79058A>C (p.Lys26353Thr) c.68912A>C (p.Lys22971Thr) | |
2 | g.178530453T>A | CA349406848 | TTN,TTN-AS1 | c.98458A>T (p.Lys32820Ter) c.79543A>T (p.Lys26515Ter) c.79342A>T (p.Lys26448Ter) c.78967A>T (p.Lys26323Ter) c.106162A>T (p.Lys35388Ter) c.101239A>T (p.Lys33747Ter) n.446+6817T>A n.220-5279T>A c.105259A>T (p.Lys35087Ter) c.79153A>T (p.Lys26385Ter) c.79012A>T (p.Lys26338Ter) c.105055A>T (p.Lys35019Ter) c.100453A>T (p.Lys33485Ter) c.100450A>T (p.Lys33484Ter) c.97492A>T (p.Lys32498Ter) c.79108A>T (p.Lys26370Ter) c.100603A>T (p.Lys33535Ter) c.100600A>T (p.Lys33534Ter) c.100033A>T (p.Lys33345Ter) c.97375A>T (p.Lys32459Ter) c.97294A>T (p.Lys32432Ter) c.79057A>T (p.Lys26353Ter) c.68911A>T (p.Lys22971Ter) | |
2 | g.178530453T>C | CA349406850 | TTN,TTN-AS1 | c.98458A>G (p.Lys32820Glu) c.79543A>G (p.Lys26515Glu) c.79342A>G (p.Lys26448Glu) c.78967A>G (p.Lys26323Glu) c.106162A>G (p.Lys35388Glu) c.101239A>G (p.Lys33747Glu) n.446+6817T>C n.220-5279T>C c.105259A>G (p.Lys35087Glu) c.79153A>G (p.Lys26385Glu) c.79012A>G (p.Lys26338Glu) c.105055A>G (p.Lys35019Glu) c.100453A>G (p.Lys33485Glu) c.100450A>G (p.Lys33484Glu) c.97492A>G (p.Lys32498Glu) c.79108A>G (p.Lys26370Glu) c.100603A>G (p.Lys33535Glu) c.100600A>G (p.Lys33534Glu) c.100033A>G (p.Lys33345Glu) c.97375A>G (p.Lys32459Glu) c.97294A>G (p.Lys32432Glu) c.79057A>G (p.Lys26353Glu) c.68911A>G (p.Lys22971Glu) | gnomAD v4 |
2 | g.178530453T>G | CA349406852 | TTN,TTN-AS1 | c.98458A>C (p.Lys32820Gln) c.79543A>C (p.Lys26515Gln) c.79342A>C (p.Lys26448Gln) c.78967A>C (p.Lys26323Gln) c.106162A>C (p.Lys35388Gln) c.101239A>C (p.Lys33747Gln) n.446+6817T>G n.220-5279T>G c.105259A>C (p.Lys35087Gln) c.79153A>C (p.Lys26385Gln) c.79012A>C (p.Lys26338Gln) c.105055A>C (p.Lys35019Gln) c.100453A>C (p.Lys33485Gln) c.100450A>C (p.Lys33484Gln) c.97492A>C (p.Lys32498Gln) c.79108A>C (p.Lys26370Gln) c.100603A>C (p.Lys33535Gln) c.100600A>C (p.Lys33534Gln) c.100033A>C (p.Lys33345Gln) c.97375A>C (p.Lys32459Gln) c.97294A>C (p.Lys32432Gln) c.79057A>C (p.Lys26353Gln) c.68911A>C (p.Lys22971Gln) | |
2 | g.178530454T>A | CA430235011 | TTN,TTN-AS1 | c.98457A>T (p.Ser32819=) c.79542A>T (p.Ser26514=) c.79341A>T (p.Ser26447=) c.78966A>T (p.Ser26322=) c.106161A>T (p.Ser35387=) c.101238A>T (p.Ser33746=) n.446+6818T>A n.220-5278T>A c.105258A>T (p.Ser35086=) c.79152A>T (p.Ser26384=) c.79011A>T (p.Ser26337=) c.105054A>T (p.Ser35018=) c.100452A>T (p.Ser33484=) c.100449A>T (p.Ser33483=) c.97491A>T (p.Ser32497=) c.79107A>T (p.Ser26369=) c.100602A>T (p.Ser33534=) c.100599A>T (p.Ser33533=) c.100032A>T (p.Ser33344=) c.97374A>T (p.Ser32458=) c.97293A>T (p.Ser32431=) c.79056A>T (p.Ser26352=) c.68910A>T (p.Ser22970=) | |
2 | g.178530454T>C | CA430235012 | TTN,TTN-AS1 | c.98457A>G (p.Ser32819=) c.79542A>G (p.Ser26514=) c.79341A>G (p.Ser26447=) c.78966A>G (p.Ser26322=) c.106161A>G (p.Ser35387=) c.101238A>G (p.Ser33746=) n.446+6818T>C n.220-5278T>C c.105258A>G (p.Ser35086=) c.79152A>G (p.Ser26384=) c.79011A>G (p.Ser26337=) c.105054A>G (p.Ser35018=) c.100452A>G (p.Ser33484=) c.100449A>G (p.Ser33483=) c.97491A>G (p.Ser32497=) c.79107A>G (p.Ser26369=) c.100602A>G (p.Ser33534=) c.100599A>G (p.Ser33533=) c.100032A>G (p.Ser33344=) c.97374A>G (p.Ser32458=) c.97293A>G (p.Ser32431=) c.79056A>G (p.Ser26352=) c.68910A>G (p.Ser22970=) | |
2 | g.178530454T>G | CA430235013 | TTN,TTN-AS1 | c.98457A>C (p.Ser32819=) c.79542A>C (p.Ser26514=) c.79341A>C (p.Ser26447=) c.78966A>C (p.Ser26322=) c.106161A>C (p.Ser35387=) c.101238A>C (p.Ser33746=) n.446+6818T>G n.220-5278T>G c.105258A>C (p.Ser35086=) c.79152A>C (p.Ser26384=) c.79011A>C (p.Ser26337=) c.105054A>C (p.Ser35018=) c.100452A>C (p.Ser33484=) c.100449A>C (p.Ser33483=) c.97491A>C (p.Ser32497=) c.79107A>C (p.Ser26369=) c.100602A>C (p.Ser33534=) c.100599A>C (p.Ser33533=) c.100032A>C (p.Ser33344=) c.97374A>C (p.Ser32458=) c.97293A>C (p.Ser32431=) c.79056A>C (p.Ser26352=) c.68910A>C (p.Ser22970=) | |
2 | g.178530455G>A | CA349406854 | TTN,TTN-AS1 | c.98456C>T (p.Ser32819Leu) c.79541C>T (p.Ser26514Leu) c.79340C>T (p.Ser26447Leu) c.78965C>T (p.Ser26322Leu) c.106160C>T (p.Ser35387Leu) c.101237C>T (p.Ser33746Leu) n.446+6819G>A n.220-5277G>A c.105257C>T (p.Ser35086Leu) c.79151C>T (p.Ser26384Leu) c.79010C>T (p.Ser26337Leu) c.105053C>T (p.Ser35018Leu) c.100451C>T (p.Ser33484Leu) c.100448C>T (p.Ser33483Leu) c.97490C>T (p.Ser32497Leu) c.79106C>T (p.Ser26369Leu) c.100601C>T (p.Ser33534Leu) c.100598C>T (p.Ser33533Leu) c.100031C>T (p.Ser33344Leu) c.97373C>T (p.Ser32458Leu) c.97292C>T (p.Ser32431Leu) c.79055C>T (p.Ser26352Leu) c.68909C>T (p.Ser22970Leu) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530455G>C | CA349406856 | TTN,TTN-AS1 | c.98456C>G (p.Ser32819Ter) c.79541C>G (p.Ser26514Ter) c.79340C>G (p.Ser26447Ter) c.78965C>G (p.Ser26322Ter) c.106160C>G (p.Ser35387Ter) c.101237C>G (p.Ser33746Ter) n.446+6819G>C n.220-5277G>C c.105257C>G (p.Ser35086Ter) c.79151C>G (p.Ser26384Ter) c.79010C>G (p.Ser26337Ter) c.105053C>G (p.Ser35018Ter) c.100451C>G (p.Ser33484Ter) c.100448C>G (p.Ser33483Ter) c.97490C>G (p.Ser32497Ter) c.79106C>G (p.Ser26369Ter) c.100601C>G (p.Ser33534Ter) c.100598C>G (p.Ser33533Ter) c.100031C>G (p.Ser33344Ter) c.97373C>G (p.Ser32458Ter) c.97292C>G (p.Ser32431Ter) c.79055C>G (p.Ser26352Ter) c.68909C>G (p.Ser22970Ter) | ClinVar dbSNP |
2 | g.178530455G>T | CA349406858 | TTN,TTN-AS1 | c.98456C>A (p.Ser32819Ter) c.79541C>A (p.Ser26514Ter) c.79340C>A (p.Ser26447Ter) c.78965C>A (p.Ser26322Ter) c.106160C>A (p.Ser35387Ter) c.101237C>A (p.Ser33746Ter) n.446+6819G>T n.220-5277G>T c.105257C>A (p.Ser35086Ter) c.79151C>A (p.Ser26384Ter) c.79010C>A (p.Ser26337Ter) c.105053C>A (p.Ser35018Ter) c.100451C>A (p.Ser33484Ter) c.100448C>A (p.Ser33483Ter) c.97490C>A (p.Ser32497Ter) c.79106C>A (p.Ser26369Ter) c.100601C>A (p.Ser33534Ter) c.100598C>A (p.Ser33533Ter) c.100031C>A (p.Ser33344Ter) c.97373C>A (p.Ser32458Ter) c.97292C>A (p.Ser32431Ter) c.79055C>A (p.Ser26352Ter) c.68909C>A (p.Ser22970Ter) | |
2 | g.178530456A= | CA1310514639 | TTN,TTN-AS1 | c.98455T= (p.Ser32819=) c.79540T= (p.Ser26514=) c.79339T= (p.Ser26447=) c.78964T= (p.Ser26322=) c.106159T= (p.Ser35387=) c.101236T= (p.Ser33746=) n.446+6820A= n.220-5276A= c.105256T= (p.Ser35086=) c.79150T= (p.Ser26384=) c.79009T= (p.Ser26337=) c.105052T= (p.Ser35018=) c.100450T= (p.Ser33484=) c.100447T= (p.Ser33483=) c.97489T= (p.Ser32497=) c.79105T= (p.Ser26369=) c.100600T= (p.Ser33534=) c.100597T= (p.Ser33533=) c.100030T= (p.Ser33344=) c.97372T= (p.Ser32458=) c.97291T= (p.Ser32431=) c.79054T= (p.Ser26352=) c.68908T= (p.Ser22970=) | |
2 | g.178530456A>C | CA349406865 | TTN,TTN-AS1 | c.98455T>G (p.Ser32819Ala) c.79540T>G (p.Ser26514Ala) c.79339T>G (p.Ser26447Ala) c.78964T>G (p.Ser26322Ala) c.106159T>G (p.Ser35387Ala) c.101236T>G (p.Ser33746Ala) n.446+6820A>C n.220-5276A>C c.105256T>G (p.Ser35086Ala) c.79150T>G (p.Ser26384Ala) c.79009T>G (p.Ser26337Ala) c.105052T>G (p.Ser35018Ala) c.100450T>G (p.Ser33484Ala) c.100447T>G (p.Ser33483Ala) c.97489T>G (p.Ser32497Ala) c.79105T>G (p.Ser26369Ala) c.100600T>G (p.Ser33534Ala) c.100597T>G (p.Ser33533Ala) c.100030T>G (p.Ser33344Ala) c.97372T>G (p.Ser32458Ala) c.97291T>G (p.Ser32431Ala) c.79054T>G (p.Ser26352Ala) c.68908T>G (p.Ser22970Ala) | |
2 | g.178530456A>G | CA349406863 | TTN,TTN-AS1 | c.98455T>C (p.Ser32819Pro) c.79540T>C (p.Ser26514Pro) c.79339T>C (p.Ser26447Pro) c.78964T>C (p.Ser26322Pro) c.106159T>C (p.Ser35387Pro) c.101236T>C (p.Ser33746Pro) n.446+6820A>G n.220-5276A>G c.105256T>C (p.Ser35086Pro) c.79150T>C (p.Ser26384Pro) c.79009T>C (p.Ser26337Pro) c.105052T>C (p.Ser35018Pro) c.100450T>C (p.Ser33484Pro) c.100447T>C (p.Ser33483Pro) c.97489T>C (p.Ser32497Pro) c.79105T>C (p.Ser26369Pro) c.100600T>C (p.Ser33534Pro) c.100597T>C (p.Ser33533Pro) c.100030T>C (p.Ser33344Pro) c.97372T>C (p.Ser32458Pro) c.97291T>C (p.Ser32431Pro) c.79054T>C (p.Ser26352Pro) c.68908T>C (p.Ser22970Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530456A>T | CA349406861 | TTN,TTN-AS1 | c.98455T>A (p.Ser32819Thr) c.79540T>A (p.Ser26514Thr) c.79339T>A (p.Ser26447Thr) c.78964T>A (p.Ser26322Thr) c.106159T>A (p.Ser35387Thr) c.101236T>A (p.Ser33746Thr) n.446+6820A>T n.220-5276A>T c.105256T>A (p.Ser35086Thr) c.79150T>A (p.Ser26384Thr) c.79009T>A (p.Ser26337Thr) c.105052T>A (p.Ser35018Thr) c.100450T>A (p.Ser33484Thr) c.100447T>A (p.Ser33483Thr) c.97489T>A (p.Ser32497Thr) c.79105T>A (p.Ser26369Thr) c.100600T>A (p.Ser33534Thr) c.100597T>A (p.Ser33533Thr) c.100030T>A (p.Ser33344Thr) c.97372T>A (p.Ser32458Thr) c.97291T>A (p.Ser32431Thr) c.79054T>A (p.Ser26352Thr) c.68908T>A (p.Ser22970Thr) | |
2 | g.178530457T>A | CA430235018 | TTN,TTN-AS1 | c.98454A>T (p.Val32818=) c.79539A>T (p.Val26513=) c.79338A>T (p.Val26446=) c.78963A>T (p.Val26321=) c.106158A>T (p.Val35386=) c.101235A>T (p.Val33745=) n.446+6821T>A n.220-5275T>A c.105255A>T (p.Val35085=) c.79149A>T (p.Val26383=) c.79008A>T (p.Val26336=) c.105051A>T (p.Val35017=) c.100449A>T (p.Val33483=) c.100446A>T (p.Val33482=) c.97488A>T (p.Val32496=) c.79104A>T (p.Val26368=) c.100599A>T (p.Val33533=) c.100596A>T (p.Val33532=) c.100029A>T (p.Val33343=) c.97371A>T (p.Val32457=) c.97290A>T (p.Val32430=) c.79053A>T (p.Val26351=) c.68907A>T (p.Val22969=) | |
2 | g.178530457T>C | CA430235019 | TTN,TTN-AS1 | c.98454A>G (p.Val32818=) c.79539A>G (p.Val26513=) c.79338A>G (p.Val26446=) c.78963A>G (p.Val26321=) c.106158A>G (p.Val35386=) c.101235A>G (p.Val33745=) n.446+6821T>C n.220-5275T>C c.105255A>G (p.Val35085=) c.79149A>G (p.Val26383=) c.79008A>G (p.Val26336=) c.105051A>G (p.Val35017=) c.100449A>G (p.Val33483=) c.100446A>G (p.Val33482=) c.97488A>G (p.Val32496=) c.79104A>G (p.Val26368=) c.100599A>G (p.Val33533=) c.100596A>G (p.Val33532=) c.100029A>G (p.Val33343=) c.97371A>G (p.Val32457=) c.97290A>G (p.Val32430=) c.79053A>G (p.Val26351=) c.68907A>G (p.Val22969=) | |
2 | g.178530457T>G | CA430235020 | TTN,TTN-AS1 | c.98454A>C (p.Val32818=) c.79539A>C (p.Val26513=) c.79338A>C (p.Val26446=) c.78963A>C (p.Val26321=) c.106158A>C (p.Val35386=) c.101235A>C (p.Val33745=) n.446+6821T>G n.220-5275T>G c.105255A>C (p.Val35085=) c.79149A>C (p.Val26383=) c.79008A>C (p.Val26336=) c.105051A>C (p.Val35017=) c.100449A>C (p.Val33483=) c.100446A>C (p.Val33482=) c.97488A>C (p.Val32496=) c.79104A>C (p.Val26368=) c.100599A>C (p.Val33533=) c.100596A>C (p.Val33532=) c.100029A>C (p.Val33343=) c.97371A>C (p.Val32457=) c.97290A>C (p.Val32430=) c.79053A>C (p.Val26351=) c.68907A>C (p.Val22969=) | |
2 | g.178530458A>C | CA349406867 | TTN,TTN-AS1 | c.98453T>G (p.Val32818Gly) c.79538T>G (p.Val26513Gly) c.79337T>G (p.Val26446Gly) c.78962T>G (p.Val26321Gly) c.106157T>G (p.Val35386Gly) c.101234T>G (p.Val33745Gly) n.446+6822A>C n.220-5274A>C c.105254T>G (p.Val35085Gly) c.79148T>G (p.Val26383Gly) c.79007T>G (p.Val26336Gly) c.105050T>G (p.Val35017Gly) c.100448T>G (p.Val33483Gly) c.100445T>G (p.Val33482Gly) c.97487T>G (p.Val32496Gly) c.79103T>G (p.Val26368Gly) c.100598T>G (p.Val33533Gly) c.100595T>G (p.Val33532Gly) c.100028T>G (p.Val33343Gly) c.97370T>G (p.Val32457Gly) c.97289T>G (p.Val32430Gly) c.79052T>G (p.Val26351Gly) c.68906T>G (p.Val22969Gly) | |
2 | g.178530458A>G | CA349406868 | TTN,TTN-AS1 | c.98453T>C (p.Val32818Ala) c.79538T>C (p.Val26513Ala) c.79337T>C (p.Val26446Ala) c.78962T>C (p.Val26321Ala) c.106157T>C (p.Val35386Ala) c.101234T>C (p.Val33745Ala) n.446+6822A>G n.220-5274A>G c.105254T>C (p.Val35085Ala) c.79148T>C (p.Val26383Ala) c.79007T>C (p.Val26336Ala) c.105050T>C (p.Val35017Ala) c.100448T>C (p.Val33483Ala) c.100445T>C (p.Val33482Ala) c.97487T>C (p.Val32496Ala) c.79103T>C (p.Val26368Ala) c.100598T>C (p.Val33533Ala) c.100595T>C (p.Val33532Ala) c.100028T>C (p.Val33343Ala) c.97370T>C (p.Val32457Ala) c.97289T>C (p.Val32430Ala) c.79052T>C (p.Val26351Ala) c.68906T>C (p.Val22969Ala) | |
2 | g.178530458A>T | CA349406870 | TTN,TTN-AS1 | c.98453T>A (p.Val32818Glu) c.79538T>A (p.Val26513Glu) c.79337T>A (p.Val26446Glu) c.78962T>A (p.Val26321Glu) c.106157T>A (p.Val35386Glu) c.101234T>A (p.Val33745Glu) n.446+6822A>T n.220-5274A>T c.105254T>A (p.Val35085Glu) c.79148T>A (p.Val26383Glu) c.79007T>A (p.Val26336Glu) c.105050T>A (p.Val35017Glu) c.100448T>A (p.Val33483Glu) c.100445T>A (p.Val33482Glu) c.97487T>A (p.Val32496Glu) c.79103T>A (p.Val26368Glu) c.100598T>A (p.Val33533Glu) c.100595T>A (p.Val33532Glu) c.100028T>A (p.Val33343Glu) c.97370T>A (p.Val32457Glu) c.97289T>A (p.Val32430Glu) c.79052T>A (p.Val26351Glu) c.68906T>A (p.Val22969Glu) | |
2 | g.178530458dup | CA2695196988 | TTN,TTN-AS1 | c.98453dup (p.Ser32819IlefsTer7) c.79538dup (p.Ser26514IlefsTer7) c.79337dup (p.Ser26447IlefsTer7) c.78962dup (p.Ser26322IlefsTer7) c.106157dup (p.Ser35387IlefsTer7) c.101234dup (p.Ser33746IlefsTer7) n.446+6822dup n.220-5274dup c.105254dup (p.Ser35086IlefsTer7) c.79148dup (p.Ser26384IlefsTer7) c.79007dup (p.Ser26337IlefsTer7) c.105050dup (p.Ser35018IlefsTer7) c.100448dup (p.Ser33484IlefsTer7) c.100445dup (p.Ser33483IlefsTer7) c.97487dup (p.Ser32497IlefsTer7) c.79103dup (p.Ser26369IlefsTer7) c.100598dup (p.Ser33534IlefsTer7) c.100595dup (p.Ser33533IlefsTer7) c.100028dup (p.Ser33344IlefsTer7) c.97370dup (p.Ser32458IlefsTer7) c.97289dup (p.Ser32431IlefsTer7) c.79052dup (p.Ser26352IlefsTer7) c.68906dup (p.Ser22970IlefsTer7) | ClinVar |
2 | g.178530459C>A | CA1985154 | TTN,TTN-AS1 | c.98452G>T (p.Val32818Leu) c.79537G>T (p.Val26513Leu) c.79336G>T (p.Val26446Leu) c.78961G>T (p.Val26321Leu) c.106156G>T (p.Val35386Leu) c.101233G>T (p.Val33745Leu) n.446+6823C>A n.220-5273C>A c.105253G>T (p.Val35085Leu) c.79147G>T (p.Val26383Leu) c.79006G>T (p.Val26336Leu) c.105049G>T (p.Val35017Leu) c.100447G>T (p.Val33483Leu) c.100444G>T (p.Val33482Leu) c.97486G>T (p.Val32496Leu) c.79102G>T (p.Val26368Leu) c.100597G>T (p.Val33533Leu) c.100594G>T (p.Val33532Leu) c.100027G>T (p.Val33343Leu) c.97369G>T (p.Val32457Leu) c.97288G>T (p.Val32430Leu) c.79051G>T (p.Val26351Leu) c.68905G>T (p.Val22969Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530459C= | CA1310514641 | TTN,TTN-AS1 | c.98452G= (p.Val32818=) c.79537G= (p.Val26513=) c.79336G= (p.Val26446=) c.78961G= (p.Val26321=) c.106156G= (p.Val35386=) c.101233G= (p.Val33745=) n.446+6823C= n.220-5273C= c.105253G= (p.Val35085=) c.79147G= (p.Val26383=) c.79006G= (p.Val26336=) c.105049G= (p.Val35017=) c.100447G= (p.Val33483=) c.100444G= (p.Val33482=) c.97486G= (p.Val32496=) c.79102G= (p.Val26368=) c.100597G= (p.Val33533=) c.100594G= (p.Val33532=) c.100027G= (p.Val33343=) c.97369G= (p.Val32457=) c.97288G= (p.Val32430=) c.79051G= (p.Val26351=) c.68905G= (p.Val22969=) | |
2 | g.178530459C>G | CA349406875 | TTN,TTN-AS1 | c.98452G>C (p.Val32818Leu) c.79537G>C (p.Val26513Leu) c.79336G>C (p.Val26446Leu) c.78961G>C (p.Val26321Leu) c.106156G>C (p.Val35386Leu) c.101233G>C (p.Val33745Leu) n.446+6823C>G n.220-5273C>G c.105253G>C (p.Val35085Leu) c.79147G>C (p.Val26383Leu) c.79006G>C (p.Val26336Leu) c.105049G>C (p.Val35017Leu) c.100447G>C (p.Val33483Leu) c.100444G>C (p.Val33482Leu) c.97486G>C (p.Val32496Leu) c.79102G>C (p.Val26368Leu) c.100597G>C (p.Val33533Leu) c.100594G>C (p.Val33532Leu) c.100027G>C (p.Val33343Leu) c.97369G>C (p.Val32457Leu) c.97288G>C (p.Val32430Leu) c.79051G>C (p.Val26351Leu) c.68905G>C (p.Val22969Leu) | |
2 | g.178530459C>T | CA349406877 | TTN,TTN-AS1 | c.98452G>A (p.Val32818Ile) c.79537G>A (p.Val26513Ile) c.79336G>A (p.Val26446Ile) c.78961G>A (p.Val26321Ile) c.106156G>A (p.Val35386Ile) c.101233G>A (p.Val33745Ile) n.446+6823C>T n.220-5273C>T c.105253G>A (p.Val35085Ile) c.79147G>A (p.Val26383Ile) c.79006G>A (p.Val26336Ile) c.105049G>A (p.Val35017Ile) c.100447G>A (p.Val33483Ile) c.100444G>A (p.Val33482Ile) c.97486G>A (p.Val32496Ile) c.79102G>A (p.Val26368Ile) c.100597G>A (p.Val33533Ile) c.100594G>A (p.Val33532Ile) c.100027G>A (p.Val33343Ile) c.97369G>A (p.Val32457Ile) c.97288G>A (p.Val32430Ile) c.79051G>A (p.Val26351Ile) c.68905G>A (p.Val22969Ile) | |
2 | g.178530460C>A | CA349406881 | TTN,TTN-AS1 | c.98451G>T (p.Lys32817Asn) c.79536G>T (p.Lys26512Asn) c.79335G>T (p.Lys26445Asn) c.78960G>T (p.Lys26320Asn) c.106155G>T (p.Lys35385Asn) c.101232G>T (p.Lys33744Asn) n.446+6824C>A n.220-5272C>A c.105252G>T (p.Lys35084Asn) c.79146G>T (p.Lys26382Asn) c.79005G>T (p.Lys26335Asn) c.105048G>T (p.Lys35016Asn) c.100446G>T (p.Lys33482Asn) c.100443G>T (p.Lys33481Asn) c.97485G>T (p.Lys32495Asn) c.79101G>T (p.Lys26367Asn) c.100596G>T (p.Lys33532Asn) c.100593G>T (p.Lys33531Asn) c.100026G>T (p.Lys33342Asn) c.97368G>T (p.Lys32456Asn) c.97287G>T (p.Lys32429Asn) c.79050G>T (p.Lys26350Asn) c.68904G>T (p.Lys22968Asn) | |
2 | g.178530460C= | CA1310514643 | TTN,TTN-AS1 | c.98451G= (p.Lys32817=) c.79536G= (p.Lys26512=) c.79335G= (p.Lys26445=) c.78960G= (p.Lys26320=) c.106155G= (p.Lys35385=) c.101232G= (p.Lys33744=) n.446+6824C= n.220-5272C= c.105252G= (p.Lys35084=) c.79146G= (p.Lys26382=) c.79005G= (p.Lys26335=) c.105048G= (p.Lys35016=) c.100446G= (p.Lys33482=) c.100443G= (p.Lys33481=) c.97485G= (p.Lys32495=) c.79101G= (p.Lys26367=) c.100596G= (p.Lys33532=) c.100593G= (p.Lys33531=) c.100026G= (p.Lys33342=) c.97368G= (p.Lys32456=) c.97287G= (p.Lys32429=) c.79050G= (p.Lys26350=) c.68904G= (p.Lys22968=) | |
2 | g.178530460C>G | CA349406879 | TTN,TTN-AS1 | c.98451G>C (p.Lys32817Asn) c.79536G>C (p.Lys26512Asn) c.79335G>C (p.Lys26445Asn) c.78960G>C (p.Lys26320Asn) c.106155G>C (p.Lys35385Asn) c.101232G>C (p.Lys33744Asn) n.446+6824C>G n.220-5272C>G c.105252G>C (p.Lys35084Asn) c.79146G>C (p.Lys26382Asn) c.79005G>C (p.Lys26335Asn) c.105048G>C (p.Lys35016Asn) c.100446G>C (p.Lys33482Asn) c.100443G>C (p.Lys33481Asn) c.97485G>C (p.Lys32495Asn) c.79101G>C (p.Lys26367Asn) c.100596G>C (p.Lys33532Asn) c.100593G>C (p.Lys33531Asn) c.100026G>C (p.Lys33342Asn) c.97368G>C (p.Lys32456Asn) c.97287G>C (p.Lys32429Asn) c.79050G>C (p.Lys26350Asn) c.68904G>C (p.Lys22968Asn) | dbSNP |
2 | g.178530460C>T | CA1985155 | TTN,TTN-AS1 | c.98451G>A (p.Lys32817=) c.79536G>A (p.Lys26512=) c.79335G>A (p.Lys26445=) c.78960G>A (p.Lys26320=) c.106155G>A (p.Lys35385=) c.101232G>A (p.Lys33744=) n.446+6824C>T n.220-5272C>T c.105252G>A (p.Lys35084=) c.79146G>A (p.Lys26382=) c.79005G>A (p.Lys26335=) c.105048G>A (p.Lys35016=) c.100446G>A (p.Lys33482=) c.100443G>A (p.Lys33481=) c.97485G>A (p.Lys32495=) c.79101G>A (p.Lys26367=) c.100596G>A (p.Lys33532=) c.100593G>A (p.Lys33531=) c.100026G>A (p.Lys33342=) c.97368G>A (p.Lys32456=) c.97287G>A (p.Lys32429=) c.79050G>A (p.Lys26350=) c.68904G>A (p.Lys22968=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530461T>A | CA349406884 | TTN,TTN-AS1 | c.98450A>T (p.Lys32817Met) c.79535A>T (p.Lys26512Met) c.79334A>T (p.Lys26445Met) c.78959A>T (p.Lys26320Met) c.106154A>T (p.Lys35385Met) c.101231A>T (p.Lys33744Met) n.446+6825T>A n.220-5271T>A c.105251A>T (p.Lys35084Met) c.79145A>T (p.Lys26382Met) c.79004A>T (p.Lys26335Met) c.105047A>T (p.Lys35016Met) c.100445A>T (p.Lys33482Met) c.100442A>T (p.Lys33481Met) c.97484A>T (p.Lys32495Met) c.79100A>T (p.Lys26367Met) c.100595A>T (p.Lys33532Met) c.100592A>T (p.Lys33531Met) c.100025A>T (p.Lys33342Met) c.97367A>T (p.Lys32456Met) c.97286A>T (p.Lys32429Met) c.79049A>T (p.Lys26350Met) c.68903A>T (p.Lys22968Met) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530461T>C | CA349406886 | TTN,TTN-AS1 | c.98450A>G (p.Lys32817Arg) c.79535A>G (p.Lys26512Arg) c.79334A>G (p.Lys26445Arg) c.78959A>G (p.Lys26320Arg) c.106154A>G (p.Lys35385Arg) c.101231A>G (p.Lys33744Arg) n.446+6825T>C n.220-5271T>C c.105251A>G (p.Lys35084Arg) c.79145A>G (p.Lys26382Arg) c.79004A>G (p.Lys26335Arg) c.105047A>G (p.Lys35016Arg) c.100445A>G (p.Lys33482Arg) c.100442A>G (p.Lys33481Arg) c.97484A>G (p.Lys32495Arg) c.79100A>G (p.Lys26367Arg) c.100595A>G (p.Lys33532Arg) c.100592A>G (p.Lys33531Arg) c.100025A>G (p.Lys33342Arg) c.97367A>G (p.Lys32456Arg) c.97286A>G (p.Lys32429Arg) c.79049A>G (p.Lys26350Arg) c.68903A>G (p.Lys22968Arg) | |
2 | g.178530461T>G | CA1985156 | TTN,TTN-AS1 | c.98450A>C (p.Lys32817Thr) c.79535A>C (p.Lys26512Thr) c.79334A>C (p.Lys26445Thr) c.78959A>C (p.Lys26320Thr) c.106154A>C (p.Lys35385Thr) c.101231A>C (p.Lys33744Thr) n.446+6825T>G n.220-5271T>G c.105251A>C (p.Lys35084Thr) c.79145A>C (p.Lys26382Thr) c.79004A>C (p.Lys26335Thr) c.105047A>C (p.Lys35016Thr) c.100445A>C (p.Lys33482Thr) c.100442A>C (p.Lys33481Thr) c.97484A>C (p.Lys32495Thr) c.79100A>C (p.Lys26367Thr) c.100595A>C (p.Lys33532Thr) c.100592A>C (p.Lys33531Thr) c.100025A>C (p.Lys33342Thr) c.97367A>C (p.Lys32456Thr) c.97286A>C (p.Lys32429Thr) c.79049A>C (p.Lys26350Thr) c.68903A>C (p.Lys22968Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530461T= | CA1310514644 | TTN,TTN-AS1 | c.98450A= (p.Lys32817=) c.79535A= (p.Lys26512=) c.79334A= (p.Lys26445=) c.78959A= (p.Lys26320=) c.106154A= (p.Lys35385=) c.101231A= (p.Lys33744=) n.446+6825T= n.220-5271T= c.105251A= (p.Lys35084=) c.79145A= (p.Lys26382=) c.79004A= (p.Lys26335=) c.105047A= (p.Lys35016=) c.100445A= (p.Lys33482=) c.100442A= (p.Lys33481=) c.97484A= (p.Lys32495=) c.79100A= (p.Lys26367=) c.100595A= (p.Lys33532=) c.100592A= (p.Lys33531=) c.100025A= (p.Lys33342=) c.97367A= (p.Lys32456=) c.97286A= (p.Lys32429=) c.79049A= (p.Lys26350=) c.68903A= (p.Lys22968=) | |
2 | g.178530462T>A | CA349406889 | TTN,TTN-AS1 | c.98449A>T (p.Lys32817Ter) c.79534A>T (p.Lys26512Ter) c.79333A>T (p.Lys26445Ter) c.78958A>T (p.Lys26320Ter) c.106153A>T (p.Lys35385Ter) c.101230A>T (p.Lys33744Ter) n.446+6826T>A n.220-5270T>A c.105250A>T (p.Lys35084Ter) c.79144A>T (p.Lys26382Ter) c.79003A>T (p.Lys26335Ter) c.105046A>T (p.Lys35016Ter) c.100444A>T (p.Lys33482Ter) c.100441A>T (p.Lys33481Ter) c.97483A>T (p.Lys32495Ter) c.79099A>T (p.Lys26367Ter) c.100594A>T (p.Lys33532Ter) c.100591A>T (p.Lys33531Ter) c.100024A>T (p.Lys33342Ter) c.97366A>T (p.Lys32456Ter) c.97285A>T (p.Lys32429Ter) c.79048A>T (p.Lys26350Ter) c.68902A>T (p.Lys22968Ter) | |
2 | g.178530462T>C | CA349406891 | TTN,TTN-AS1 | c.98449A>G (p.Lys32817Glu) c.79534A>G (p.Lys26512Glu) c.79333A>G (p.Lys26445Glu) c.78958A>G (p.Lys26320Glu) c.106153A>G (p.Lys35385Glu) c.101230A>G (p.Lys33744Glu) n.446+6826T>C n.220-5270T>C c.105250A>G (p.Lys35084Glu) c.79144A>G (p.Lys26382Glu) c.79003A>G (p.Lys26335Glu) c.105046A>G (p.Lys35016Glu) c.100444A>G (p.Lys33482Glu) c.100441A>G (p.Lys33481Glu) c.97483A>G (p.Lys32495Glu) c.79099A>G (p.Lys26367Glu) c.100594A>G (p.Lys33532Glu) c.100591A>G (p.Lys33531Glu) c.100024A>G (p.Lys33342Glu) c.97366A>G (p.Lys32456Glu) c.97285A>G (p.Lys32429Glu) c.79048A>G (p.Lys26350Glu) c.68902A>G (p.Lys22968Glu) | |
2 | g.178530462T>G | CA349406893 | TTN,TTN-AS1 | c.98449A>C (p.Lys32817Gln) c.79534A>C (p.Lys26512Gln) c.79333A>C (p.Lys26445Gln) c.78958A>C (p.Lys26320Gln) c.106153A>C (p.Lys35385Gln) c.101230A>C (p.Lys33744Gln) n.446+6826T>G n.220-5270T>G c.105250A>C (p.Lys35084Gln) c.79144A>C (p.Lys26382Gln) c.79003A>C (p.Lys26335Gln) c.105046A>C (p.Lys35016Gln) c.100444A>C (p.Lys33482Gln) c.100441A>C (p.Lys33481Gln) c.97483A>C (p.Lys32495Gln) c.79099A>C (p.Lys26367Gln) c.100594A>C (p.Lys33532Gln) c.100591A>C (p.Lys33531Gln) c.100024A>C (p.Lys33342Gln) c.97366A>C (p.Lys32456Gln) c.97285A>C (p.Lys32429Gln) c.79048A>C (p.Lys26350Gln) c.68902A>C (p.Lys22968Gln) | |
2 | g.178530463C>A | CA349406896 | TTN,TTN-AS1 | c.98448G>T (p.Glu32816Asp) c.79533G>T (p.Glu26511Asp) c.79332G>T (p.Glu26444Asp) c.78957G>T (p.Glu26319Asp) c.106152G>T (p.Glu35384Asp) c.101229G>T (p.Glu33743Asp) n.446+6827C>A n.220-5269C>A c.105249G>T (p.Glu35083Asp) c.79143G>T (p.Glu26381Asp) c.79002G>T (p.Glu26334Asp) c.105045G>T (p.Glu35015Asp) c.100443G>T (p.Glu33481Asp) c.100440G>T (p.Glu33480Asp) c.97482G>T (p.Glu32494Asp) c.79098G>T (p.Glu26366Asp) c.100593G>T (p.Glu33531Asp) c.100590G>T (p.Glu33530Asp) c.100023G>T (p.Glu33341Asp) c.97365G>T (p.Glu32455Asp) c.97284G>T (p.Glu32428Asp) c.79047G>T (p.Glu26349Asp) c.68901G>T (p.Glu22967Asp) | |
2 | g.178530463C= | CA1310514645 | TTN,TTN-AS1 | c.98448G= (p.Glu32816=) c.79533G= (p.Glu26511=) c.79332G= (p.Glu26444=) c.78957G= (p.Glu26319=) c.106152G= (p.Glu35384=) c.101229G= (p.Glu33743=) n.446+6827C= n.220-5269C= c.105249G= (p.Glu35083=) c.79143G= (p.Glu26381=) c.79002G= (p.Glu26334=) c.105045G= (p.Glu35015=) c.100443G= (p.Glu33481=) c.100440G= (p.Glu33480=) c.97482G= (p.Glu32494=) c.79098G= (p.Glu26366=) c.100593G= (p.Glu33531=) c.100590G= (p.Glu33530=) c.100023G= (p.Glu33341=) c.97365G= (p.Glu32455=) c.97284G= (p.Glu32428=) c.79047G= (p.Glu26349=) c.68901G= (p.Glu22967=) | |
2 | g.178530463C>G | CA349406899 | TTN,TTN-AS1 | c.98448G>C (p.Glu32816Asp) c.79533G>C (p.Glu26511Asp) c.79332G>C (p.Glu26444Asp) c.78957G>C (p.Glu26319Asp) c.106152G>C (p.Glu35384Asp) c.101229G>C (p.Glu33743Asp) n.446+6827C>G n.220-5269C>G c.105249G>C (p.Glu35083Asp) c.79143G>C (p.Glu26381Asp) c.79002G>C (p.Glu26334Asp) c.105045G>C (p.Glu35015Asp) c.100443G>C (p.Glu33481Asp) c.100440G>C (p.Glu33480Asp) c.97482G>C (p.Glu32494Asp) c.79098G>C (p.Glu26366Asp) c.100593G>C (p.Glu33531Asp) c.100590G>C (p.Glu33530Asp) c.100023G>C (p.Glu33341Asp) c.97365G>C (p.Glu32455Asp) c.97284G>C (p.Glu32428Asp) c.79047G>C (p.Glu26349Asp) c.68901G>C (p.Glu22967Asp) | |
2 | g.178530463C>T | CA1985157 | TTN,TTN-AS1 | c.98448G>A (p.Glu32816=) c.79533G>A (p.Glu26511=) c.79332G>A (p.Glu26444=) c.78957G>A (p.Glu26319=) c.106152G>A (p.Glu35384=) c.101229G>A (p.Glu33743=) n.446+6827C>T n.220-5269C>T c.105249G>A (p.Glu35083=) c.79143G>A (p.Glu26381=) c.79002G>A (p.Glu26334=) c.105045G>A (p.Glu35015=) c.100443G>A (p.Glu33481=) c.100440G>A (p.Glu33480=) c.97482G>A (p.Glu32494=) c.79098G>A (p.Glu26366=) c.100593G>A (p.Glu33531=) c.100590G>A (p.Glu33530=) c.100023G>A (p.Glu33341=) c.97365G>A (p.Glu32455=) c.97284G>A (p.Glu32428=) c.79047G>A (p.Glu26349=) c.68901G>A (p.Glu22967=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530464T>A | CA349406901 | TTN,TTN-AS1 | c.98447A>T (p.Glu32816Val) c.79532A>T (p.Glu26511Val) c.79331A>T (p.Glu26444Val) c.78956A>T (p.Glu26319Val) c.106151A>T (p.Glu35384Val) c.101228A>T (p.Glu33743Val) n.446+6828T>A n.220-5268T>A c.105248A>T (p.Glu35083Val) c.79142A>T (p.Glu26381Val) c.79001A>T (p.Glu26334Val) c.105044A>T (p.Glu35015Val) c.100442A>T (p.Glu33481Val) c.100439A>T (p.Glu33480Val) c.97481A>T (p.Glu32494Val) c.79097A>T (p.Glu26366Val) c.100592A>T (p.Glu33531Val) c.100589A>T (p.Glu33530Val) c.100022A>T (p.Glu33341Val) c.97364A>T (p.Glu32455Val) c.97283A>T (p.Glu32428Val) c.79046A>T (p.Glu26349Val) c.68900A>T (p.Glu22967Val) | |
2 | g.178530464T>C | CA349406903 | TTN,TTN-AS1 | c.98447A>G (p.Glu32816Gly) c.79532A>G (p.Glu26511Gly) c.79331A>G (p.Glu26444Gly) c.78956A>G (p.Glu26319Gly) c.106151A>G (p.Glu35384Gly) c.101228A>G (p.Glu33743Gly) n.446+6828T>C n.220-5268T>C c.105248A>G (p.Glu35083Gly) c.79142A>G (p.Glu26381Gly) c.79001A>G (p.Glu26334Gly) c.105044A>G (p.Glu35015Gly) c.100442A>G (p.Glu33481Gly) c.100439A>G (p.Glu33480Gly) c.97481A>G (p.Glu32494Gly) c.79097A>G (p.Glu26366Gly) c.100592A>G (p.Glu33531Gly) c.100589A>G (p.Glu33530Gly) c.100022A>G (p.Glu33341Gly) c.97364A>G (p.Glu32455Gly) c.97283A>G (p.Glu32428Gly) c.79046A>G (p.Glu26349Gly) c.68900A>G (p.Glu22967Gly) | |
2 | g.178530464T>G | CA349406905 | TTN,TTN-AS1 | c.98447A>C (p.Glu32816Ala) c.79532A>C (p.Glu26511Ala) c.79331A>C (p.Glu26444Ala) c.78956A>C (p.Glu26319Ala) c.106151A>C (p.Glu35384Ala) c.101228A>C (p.Glu33743Ala) n.446+6828T>G n.220-5268T>G c.105248A>C (p.Glu35083Ala) c.79142A>C (p.Glu26381Ala) c.79001A>C (p.Glu26334Ala) c.105044A>C (p.Glu35015Ala) c.100442A>C (p.Glu33481Ala) c.100439A>C (p.Glu33480Ala) c.97481A>C (p.Glu32494Ala) c.79097A>C (p.Glu26366Ala) c.100592A>C (p.Glu33531Ala) c.100589A>C (p.Glu33530Ala) c.100022A>C (p.Glu33341Ala) c.97364A>C (p.Glu32455Ala) c.97283A>C (p.Glu32428Ala) c.79046A>C (p.Glu26349Ala) c.68900A>C (p.Glu22967Ala) | |
2 | g.178530465C>A | CA349406907 | TTN,TTN-AS1 | c.98446G>T (p.Glu32816Ter) c.79531G>T (p.Glu26511Ter) c.79330G>T (p.Glu26444Ter) c.78955G>T (p.Glu26319Ter) c.106150G>T (p.Glu35384Ter) c.101227G>T (p.Glu33743Ter) n.446+6829C>A n.220-5267C>A c.105247G>T (p.Glu35083Ter) c.79141G>T (p.Glu26381Ter) c.79000G>T (p.Glu26334Ter) c.105043G>T (p.Glu35015Ter) c.100441G>T (p.Glu33481Ter) c.100438G>T (p.Glu33480Ter) c.97480G>T (p.Glu32494Ter) c.79096G>T (p.Glu26366Ter) c.100591G>T (p.Glu33531Ter) c.100588G>T (p.Glu33530Ter) c.100021G>T (p.Glu33341Ter) c.97363G>T (p.Glu32455Ter) c.97282G>T (p.Glu32428Ter) c.79045G>T (p.Glu26349Ter) c.68899G>T (p.Glu22967Ter) | |
2 | g.178530465C= | CA1310514647 | TTN,TTN-AS1 | c.98446G= (p.Glu32816=) c.79531G= (p.Glu26511=) c.79330G= (p.Glu26444=) c.78955G= (p.Glu26319=) c.106150G= (p.Glu35384=) c.101227G= (p.Glu33743=) n.446+6829C= n.220-5267C= c.105247G= (p.Glu35083=) c.79141G= (p.Glu26381=) c.79000G= (p.Glu26334=) c.105043G= (p.Glu35015=) c.100441G= (p.Glu33481=) c.100438G= (p.Glu33480=) c.97480G= (p.Glu32494=) c.79096G= (p.Glu26366=) c.100591G= (p.Glu33531=) c.100588G= (p.Glu33530=) c.100021G= (p.Glu33341=) c.97363G= (p.Glu32455=) c.97282G= (p.Glu32428=) c.79045G= (p.Glu26349=) c.68899G= (p.Glu22967=) | |
2 | g.178530465C>G | CA349406909 | TTN,TTN-AS1 | c.98446G>C (p.Glu32816Gln) c.79531G>C (p.Glu26511Gln) c.79330G>C (p.Glu26444Gln) c.78955G>C (p.Glu26319Gln) c.106150G>C (p.Glu35384Gln) c.101227G>C (p.Glu33743Gln) n.446+6829C>G n.220-5267C>G c.105247G>C (p.Glu35083Gln) c.79141G>C (p.Glu26381Gln) c.79000G>C (p.Glu26334Gln) c.105043G>C (p.Glu35015Gln) c.100441G>C (p.Glu33481Gln) c.100438G>C (p.Glu33480Gln) c.97480G>C (p.Glu32494Gln) c.79096G>C (p.Glu26366Gln) c.100591G>C (p.Glu33531Gln) c.100588G>C (p.Glu33530Gln) c.100021G>C (p.Glu33341Gln) c.97363G>C (p.Glu32455Gln) c.97282G>C (p.Glu32428Gln) c.79045G>C (p.Glu26349Gln) c.68899G>C (p.Glu22967Gln) | dbSNP gnomAD v2 |
2 | g.178530465C>T | CA349406911 | TTN,TTN-AS1 | c.98446G>A (p.Glu32816Lys) c.79531G>A (p.Glu26511Lys) c.79330G>A (p.Glu26444Lys) c.78955G>A (p.Glu26319Lys) c.106150G>A (p.Glu35384Lys) c.101227G>A (p.Glu33743Lys) n.446+6829C>T n.220-5267C>T c.105247G>A (p.Glu35083Lys) c.79141G>A (p.Glu26381Lys) c.79000G>A (p.Glu26334Lys) c.105043G>A (p.Glu35015Lys) c.100441G>A (p.Glu33481Lys) c.100438G>A (p.Glu33480Lys) c.97480G>A (p.Glu32494Lys) c.79096G>A (p.Glu26366Lys) c.100591G>A (p.Glu33531Lys) c.100588G>A (p.Glu33530Lys) c.100021G>A (p.Glu33341Lys) c.97363G>A (p.Glu32455Lys) c.97282G>A (p.Glu32428Lys) c.79045G>A (p.Glu26349Lys) c.68899G>A (p.Glu22967Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530466A>C | CA349406913 | TTN,TTN-AS1 | c.98445T>G (p.His32815Gln) c.79530T>G (p.His26510Gln) c.79329T>G (p.His26443Gln) c.78954T>G (p.His26318Gln) c.106149T>G (p.His35383Gln) c.101226T>G (p.His33742Gln) n.446+6830A>C n.220-5266A>C c.105246T>G (p.His35082Gln) c.79140T>G (p.His26380Gln) c.78999T>G (p.His26333Gln) c.105042T>G (p.His35014Gln) c.100440T>G (p.His33480Gln) c.100437T>G (p.His33479Gln) c.97479T>G (p.His32493Gln) c.79095T>G (p.His26365Gln) c.100590T>G (p.His33530Gln) c.100587T>G (p.His33529Gln) c.100020T>G (p.His33340Gln) c.97362T>G (p.His32454Gln) c.97281T>G (p.His32427Gln) c.79044T>G (p.His26348Gln) c.68898T>G (p.His22966Gln) | gnomAD v4 |
2 | g.178530466A>G | CA430235035 | TTN,TTN-AS1 | c.98445T>C (p.His32815=) c.79530T>C (p.His26510=) c.79329T>C (p.His26443=) c.78954T>C (p.His26318=) c.106149T>C (p.His35383=) c.101226T>C (p.His33742=) n.446+6830A>G n.220-5266A>G c.105246T>C (p.His35082=) c.79140T>C (p.His26380=) c.78999T>C (p.His26333=) c.105042T>C (p.His35014=) c.100440T>C (p.His33480=) c.100437T>C (p.His33479=) c.97479T>C (p.His32493=) c.79095T>C (p.His26365=) c.100590T>C (p.His33530=) c.100587T>C (p.His33529=) c.100020T>C (p.His33340=) c.97362T>C (p.His32454=) c.97281T>C (p.His32427=) c.79044T>C (p.His26348=) c.68898T>C (p.His22966=) | |
2 | g.178530466A>T | CA349406915 | TTN,TTN-AS1 | c.98445T>A (p.His32815Gln) c.79530T>A (p.His26510Gln) c.79329T>A (p.His26443Gln) c.78954T>A (p.His26318Gln) c.106149T>A (p.His35383Gln) c.101226T>A (p.His33742Gln) n.446+6830A>T n.220-5266A>T c.105246T>A (p.His35082Gln) c.79140T>A (p.His26380Gln) c.78999T>A (p.His26333Gln) c.105042T>A (p.His35014Gln) c.100440T>A (p.His33480Gln) c.100437T>A (p.His33479Gln) c.97479T>A (p.His32493Gln) c.79095T>A (p.His26365Gln) c.100590T>A (p.His33530Gln) c.100587T>A (p.His33529Gln) c.100020T>A (p.His33340Gln) c.97362T>A (p.His32454Gln) c.97281T>A (p.His32427Gln) c.79044T>A (p.His26348Gln) c.68898T>A (p.His22966Gln) | |
2 | g.178530467T>A | CA349406918 | TTN,TTN-AS1 | c.98444A>T (p.His32815Leu) c.79529A>T (p.His26510Leu) c.79328A>T (p.His26443Leu) c.78953A>T (p.His26318Leu) c.106148A>T (p.His35383Leu) c.101225A>T (p.His33742Leu) n.446+6831T>A n.220-5265T>A c.105245A>T (p.His35082Leu) c.79139A>T (p.His26380Leu) c.78998A>T (p.His26333Leu) c.105041A>T (p.His35014Leu) c.100439A>T (p.His33480Leu) c.100436A>T (p.His33479Leu) c.97478A>T (p.His32493Leu) c.79094A>T (p.His26365Leu) c.100589A>T (p.His33530Leu) c.100586A>T (p.His33529Leu) c.100019A>T (p.His33340Leu) c.97361A>T (p.His32454Leu) c.97280A>T (p.His32427Leu) c.79043A>T (p.His26348Leu) c.68897A>T (p.His22966Leu) | |
2 | g.178530467T>C | CA349406920 | TTN,TTN-AS1 | c.98444A>G (p.His32815Arg) c.79529A>G (p.His26510Arg) c.79328A>G (p.His26443Arg) c.78953A>G (p.His26318Arg) c.106148A>G (p.His35383Arg) c.101225A>G (p.His33742Arg) n.446+6831T>C n.220-5265T>C c.105245A>G (p.His35082Arg) c.79139A>G (p.His26380Arg) c.78998A>G (p.His26333Arg) c.105041A>G (p.His35014Arg) c.100439A>G (p.His33480Arg) c.100436A>G (p.His33479Arg) c.97478A>G (p.His32493Arg) c.79094A>G (p.His26365Arg) c.100589A>G (p.His33530Arg) c.100586A>G (p.His33529Arg) c.100019A>G (p.His33340Arg) c.97361A>G (p.His32454Arg) c.97280A>G (p.His32427Arg) c.79043A>G (p.His26348Arg) c.68897A>G (p.His22966Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530467T>G | CA349406921 | TTN,TTN-AS1 | c.98444A>C (p.His32815Pro) c.79529A>C (p.His26510Pro) c.79328A>C (p.His26443Pro) c.78953A>C (p.His26318Pro) c.106148A>C (p.His35383Pro) c.101225A>C (p.His33742Pro) n.446+6831T>G n.220-5265T>G c.105245A>C (p.His35082Pro) c.79139A>C (p.His26380Pro) c.78998A>C (p.His26333Pro) c.105041A>C (p.His35014Pro) c.100439A>C (p.His33480Pro) c.100436A>C (p.His33479Pro) c.97478A>C (p.His32493Pro) c.79094A>C (p.His26365Pro) c.100589A>C (p.His33530Pro) c.100586A>C (p.His33529Pro) c.100019A>C (p.His33340Pro) c.97361A>C (p.His32454Pro) c.97280A>C (p.His32427Pro) c.79043A>C (p.His26348Pro) c.68897A>C (p.His22966Pro) | |
2 | g.178530467T= | CA1310514651 | TTN,TTN-AS1 | c.98444A= (p.His32815=) c.79529A= (p.His26510=) c.79328A= (p.His26443=) c.78953A= (p.His26318=) c.106148A= (p.His35383=) c.101225A= (p.His33742=) n.446+6831T= n.220-5265T= c.105245A= (p.His35082=) c.79139A= (p.His26380=) c.78998A= (p.His26333=) c.105041A= (p.His35014=) c.100439A= (p.His33480=) c.100436A= (p.His33479=) c.97478A= (p.His32493=) c.79094A= (p.His26365=) c.100589A= (p.His33530=) c.100586A= (p.His33529=) c.100019A= (p.His33340=) c.97361A= (p.His32454=) c.97280A= (p.His32427=) c.79043A= (p.His26348=) c.68897A= (p.His22966=) | |
2 | g.178530468G>A | CA349406922 | TTN,TTN-AS1 | c.98443C>T (p.His32815Tyr) c.79528C>T (p.His26510Tyr) c.79327C>T (p.His26443Tyr) c.78952C>T (p.His26318Tyr) c.106147C>T (p.His35383Tyr) c.101224C>T (p.His33742Tyr) n.446+6832G>A n.220-5264G>A c.105244C>T (p.His35082Tyr) c.79138C>T (p.His26380Tyr) c.78997C>T (p.His26333Tyr) c.105040C>T (p.His35014Tyr) c.100438C>T (p.His33480Tyr) c.100435C>T (p.His33479Tyr) c.97477C>T (p.His32493Tyr) c.79093C>T (p.His26365Tyr) c.100588C>T (p.His33530Tyr) c.100585C>T (p.His33529Tyr) c.100018C>T (p.His33340Tyr) c.97360C>T (p.His32454Tyr) c.97279C>T (p.His32427Tyr) c.79042C>T (p.His26348Tyr) c.68896C>T (p.His22966Tyr) | |
2 | g.178530468G>C | CA349406927 | TTN,TTN-AS1 | c.98443C>G (p.His32815Asp) c.79528C>G (p.His26510Asp) c.79327C>G (p.His26443Asp) c.78952C>G (p.His26318Asp) c.106147C>G (p.His35383Asp) c.101224C>G (p.His33742Asp) n.446+6832G>C n.220-5264G>C c.105244C>G (p.His35082Asp) c.79138C>G (p.His26380Asp) c.78997C>G (p.His26333Asp) c.105040C>G (p.His35014Asp) c.100438C>G (p.His33480Asp) c.100435C>G (p.His33479Asp) c.97477C>G (p.His32493Asp) c.79093C>G (p.His26365Asp) c.100588C>G (p.His33530Asp) c.100585C>G (p.His33529Asp) c.100018C>G (p.His33340Asp) c.97360C>G (p.His32454Asp) c.97279C>G (p.His32427Asp) c.79042C>G (p.His26348Asp) c.68896C>G (p.His22966Asp) | |
2 | g.178530468G>T | CA349406924 | TTN,TTN-AS1 | c.98443C>A (p.His32815Asn) c.79528C>A (p.His26510Asn) c.79327C>A (p.His26443Asn) c.78952C>A (p.His26318Asn) c.106147C>A (p.His35383Asn) c.101224C>A (p.His33742Asn) n.446+6832G>T n.220-5264G>T c.105244C>A (p.His35082Asn) c.79138C>A (p.His26380Asn) c.78997C>A (p.His26333Asn) c.105040C>A (p.His35014Asn) c.100438C>A (p.His33480Asn) c.100435C>A (p.His33479Asn) c.97477C>A (p.His32493Asn) c.79093C>A (p.His26365Asn) c.100588C>A (p.His33530Asn) c.100585C>A (p.His33529Asn) c.100018C>A (p.His33340Asn) c.97360C>A (p.His32454Asn) c.97279C>A (p.His32427Asn) c.79042C>A (p.His26348Asn) c.68896C>A (p.His22966Asn) | |
2 | g.178530469del | CA2586970738 | TTN,TTN-AS1 | c.98443del (p.His32815MetfsTer22) c.79528del (p.His26510MetfsTer22) c.79327del (p.His26443MetfsTer22) c.78952del (p.His26318MetfsTer22) c.106147del (p.His35383MetfsTer22) c.101224del (p.His33742MetfsTer22) n.446+6833del n.220-5263del c.105244del (p.His35082MetfsTer22) c.79138del (p.His26380MetfsTer22) c.78997del (p.His26333MetfsTer22) c.105040del (p.His35014MetfsTer22) c.100438del (p.His33480MetfsTer22) c.100435del (p.His33479MetfsTer22) c.97477del (p.His32493MetfsTer22) c.79093del (p.His26365MetfsTer22) c.100588del (p.His33530MetfsTer22) c.100585del (p.His33529MetfsTer22) c.100018del (p.His33340MetfsTer22) c.97360del (p.His32454MetfsTer22) c.97279del (p.His32427MetfsTer22) c.79042del (p.His26348MetfsTer22) c.68896del (p.His22966MetfsTer22) | gnomAD v4 |
2 | g.178530469G>A | CA430235043 | TTN,TTN-AS1 | c.98442C>T (p.Ile32814=) c.79527C>T (p.Ile26509=) c.79326C>T (p.Ile26442=) c.78951C>T (p.Ile26317=) c.106146C>T (p.Ile35382=) c.101223C>T (p.Ile33741=) n.446+6833G>A n.220-5263G>A c.105243C>T (p.Ile35081=) c.79137C>T (p.Ile26379=) c.78996C>T (p.Ile26332=) c.105039C>T (p.Ile35013=) c.100437C>T (p.Ile33479=) c.100434C>T (p.Ile33478=) c.97476C>T (p.Ile32492=) c.79092C>T (p.Ile26364=) c.100587C>T (p.Ile33529=) c.100584C>T (p.Ile33528=) c.100017C>T (p.Ile33339=) c.97359C>T (p.Ile32453=) c.97278C>T (p.Ile32426=) c.79041C>T (p.Ile26347=) c.68895C>T (p.Ile22965=) | |
2 | g.178530469G>C | CA349406929 | TTN,TTN-AS1 | c.98442C>G (p.Ile32814Met) c.79527C>G (p.Ile26509Met) c.79326C>G (p.Ile26442Met) c.78951C>G (p.Ile26317Met) c.106146C>G (p.Ile35382Met) c.101223C>G (p.Ile33741Met) n.446+6833G>C n.220-5263G>C c.105243C>G (p.Ile35081Met) c.79137C>G (p.Ile26379Met) c.78996C>G (p.Ile26332Met) c.105039C>G (p.Ile35013Met) c.100437C>G (p.Ile33479Met) c.100434C>G (p.Ile33478Met) c.97476C>G (p.Ile32492Met) c.79092C>G (p.Ile26364Met) c.100587C>G (p.Ile33529Met) c.100584C>G (p.Ile33528Met) c.100017C>G (p.Ile33339Met) c.97359C>G (p.Ile32453Met) c.97278C>G (p.Ile32426Met) c.79041C>G (p.Ile26347Met) c.68895C>G (p.Ile22965Met) | |
2 | g.178530469G= | CA1310514652 | TTN,TTN-AS1 | c.98442C= (p.Ile32814=) c.79527C= (p.Ile26509=) c.79326C= (p.Ile26442=) c.78951C= (p.Ile26317=) c.106146C= (p.Ile35382=) c.101223C= (p.Ile33741=) n.446+6833G= n.220-5263G= c.105243C= (p.Ile35081=) c.79137C= (p.Ile26379=) c.78996C= (p.Ile26332=) c.105039C= (p.Ile35013=) c.100437C= (p.Ile33479=) c.100434C= (p.Ile33478=) c.97476C= (p.Ile32492=) c.79092C= (p.Ile26364=) c.100587C= (p.Ile33529=) c.100584C= (p.Ile33528=) c.100017C= (p.Ile33339=) c.97359C= (p.Ile32453=) c.97278C= (p.Ile32426=) c.79041C= (p.Ile26347=) c.68895C= (p.Ile22965=) | |
2 | g.178530469G>T | CA430235041 | TTN,TTN-AS1 | c.98442C>A (p.Ile32814=) c.79527C>A (p.Ile26509=) c.79326C>A (p.Ile26442=) c.78951C>A (p.Ile26317=) c.106146C>A (p.Ile35382=) c.101223C>A (p.Ile33741=) n.446+6833G>T n.220-5263G>T c.105243C>A (p.Ile35081=) c.79137C>A (p.Ile26379=) c.78996C>A (p.Ile26332=) c.105039C>A (p.Ile35013=) c.100437C>A (p.Ile33479=) c.100434C>A (p.Ile33478=) c.97476C>A (p.Ile32492=) c.79092C>A (p.Ile26364=) c.100587C>A (p.Ile33529=) c.100584C>A (p.Ile33528=) c.100017C>A (p.Ile33339=) c.97359C>A (p.Ile32453=) c.97278C>A (p.Ile32426=) c.79041C>A (p.Ile26347=) c.68895C>A (p.Ile22965=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530470A= | CA1310514654 | TTN,TTN-AS1 | c.98441T= (p.Ile32814=) c.79526T= (p.Ile26509=) c.79325T= (p.Ile26442=) c.78950T= (p.Ile26317=) c.106145T= (p.Ile35382=) c.101222T= (p.Ile33741=) n.446+6834A= n.220-5262A= c.105242T= (p.Ile35081=) c.79136T= (p.Ile26379=) c.78995T= (p.Ile26332=) c.105038T= (p.Ile35013=) c.100436T= (p.Ile33479=) c.100433T= (p.Ile33478=) c.97475T= (p.Ile32492=) c.79091T= (p.Ile26364=) c.100586T= (p.Ile33529=) c.100583T= (p.Ile33528=) c.100016T= (p.Ile33339=) c.97358T= (p.Ile32453=) c.97277T= (p.Ile32426=) c.79040T= (p.Ile26347=) c.68894T= (p.Ile22965=) | |
2 | g.178530470A>C | CA349406934 | TTN,TTN-AS1 | c.98441T>G (p.Ile32814Ser) c.79526T>G (p.Ile26509Ser) c.79325T>G (p.Ile26442Ser) c.78950T>G (p.Ile26317Ser) c.106145T>G (p.Ile35382Ser) c.101222T>G (p.Ile33741Ser) n.446+6834A>C n.220-5262A>C c.105242T>G (p.Ile35081Ser) c.79136T>G (p.Ile26379Ser) c.78995T>G (p.Ile26332Ser) c.105038T>G (p.Ile35013Ser) c.100436T>G (p.Ile33479Ser) c.100433T>G (p.Ile33478Ser) c.97475T>G (p.Ile32492Ser) c.79091T>G (p.Ile26364Ser) c.100586T>G (p.Ile33529Ser) c.100583T>G (p.Ile33528Ser) c.100016T>G (p.Ile33339Ser) c.97358T>G (p.Ile32453Ser) c.97277T>G (p.Ile32426Ser) c.79040T>G (p.Ile26347Ser) c.68894T>G (p.Ile22965Ser) | |
2 | g.178530470A>G | CA349406931 | TTN,TTN-AS1 | c.98441T>C (p.Ile32814Thr) c.79526T>C (p.Ile26509Thr) c.79325T>C (p.Ile26442Thr) c.78950T>C (p.Ile26317Thr) c.106145T>C (p.Ile35382Thr) c.101222T>C (p.Ile33741Thr) n.446+6834A>G n.220-5262A>G c.105242T>C (p.Ile35081Thr) c.79136T>C (p.Ile26379Thr) c.78995T>C (p.Ile26332Thr) c.105038T>C (p.Ile35013Thr) c.100436T>C (p.Ile33479Thr) c.100433T>C (p.Ile33478Thr) c.97475T>C (p.Ile32492Thr) c.79091T>C (p.Ile26364Thr) c.100586T>C (p.Ile33529Thr) c.100583T>C (p.Ile33528Thr) c.100016T>C (p.Ile33339Thr) c.97358T>C (p.Ile32453Thr) c.97277T>C (p.Ile32426Thr) c.79040T>C (p.Ile26347Thr) c.68894T>C (p.Ile22965Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530470A>T | CA349406933 | TTN,TTN-AS1 | c.98441T>A (p.Ile32814Asn) c.79526T>A (p.Ile26509Asn) c.79325T>A (p.Ile26442Asn) c.78950T>A (p.Ile26317Asn) c.106145T>A (p.Ile35382Asn) c.101222T>A (p.Ile33741Asn) n.446+6834A>T n.220-5262A>T c.105242T>A (p.Ile35081Asn) c.79136T>A (p.Ile26379Asn) c.78995T>A (p.Ile26332Asn) c.105038T>A (p.Ile35013Asn) c.100436T>A (p.Ile33479Asn) c.100433T>A (p.Ile33478Asn) c.97475T>A (p.Ile32492Asn) c.79091T>A (p.Ile26364Asn) c.100586T>A (p.Ile33529Asn) c.100583T>A (p.Ile33528Asn) c.100016T>A (p.Ile33339Asn) c.97358T>A (p.Ile32453Asn) c.97277T>A (p.Ile32426Asn) c.79040T>A (p.Ile26347Asn) c.68894T>A (p.Ile22965Asn) | |
2 | g.178530471T>A | CA349406935 | TTN,TTN-AS1 | c.98440A>T (p.Ile32814Phe) c.79525A>T (p.Ile26509Phe) c.79324A>T (p.Ile26442Phe) c.78949A>T (p.Ile26317Phe) c.106144A>T (p.Ile35382Phe) c.101221A>T (p.Ile33741Phe) n.446+6835T>A n.220-5261T>A c.105241A>T (p.Ile35081Phe) c.79135A>T (p.Ile26379Phe) c.78994A>T (p.Ile26332Phe) c.105037A>T (p.Ile35013Phe) c.100435A>T (p.Ile33479Phe) c.100432A>T (p.Ile33478Phe) c.97474A>T (p.Ile32492Phe) c.79090A>T (p.Ile26364Phe) c.100585A>T (p.Ile33529Phe) c.100582A>T (p.Ile33528Phe) c.100015A>T (p.Ile33339Phe) c.97357A>T (p.Ile32453Phe) c.97276A>T (p.Ile32426Phe) c.79039A>T (p.Ile26347Phe) c.68893A>T (p.Ile22965Phe) | |
2 | g.178530471T>C | CA349406936 | TTN,TTN-AS1 | c.98440A>G (p.Ile32814Val) c.79525A>G (p.Ile26509Val) c.79324A>G (p.Ile26442Val) c.78949A>G (p.Ile26317Val) c.106144A>G (p.Ile35382Val) c.101221A>G (p.Ile33741Val) n.446+6835T>C n.220-5261T>C c.105241A>G (p.Ile35081Val) c.79135A>G (p.Ile26379Val) c.78994A>G (p.Ile26332Val) c.105037A>G (p.Ile35013Val) c.100435A>G (p.Ile33479Val) c.100432A>G (p.Ile33478Val) c.97474A>G (p.Ile32492Val) c.79090A>G (p.Ile26364Val) c.100585A>G (p.Ile33529Val) c.100582A>G (p.Ile33528Val) c.100015A>G (p.Ile33339Val) c.97357A>G (p.Ile32453Val) c.97276A>G (p.Ile32426Val) c.79039A>G (p.Ile26347Val) c.68893A>G (p.Ile22965Val) | |
2 | g.178530471T>G | CA349406937 | TTN,TTN-AS1 | c.98440A>C (p.Ile32814Leu) c.79525A>C (p.Ile26509Leu) c.79324A>C (p.Ile26442Leu) c.78949A>C (p.Ile26317Leu) c.106144A>C (p.Ile35382Leu) c.101221A>C (p.Ile33741Leu) n.446+6835T>G n.220-5261T>G c.105241A>C (p.Ile35081Leu) c.79135A>C (p.Ile26379Leu) c.78994A>C (p.Ile26332Leu) c.105037A>C (p.Ile35013Leu) c.100435A>C (p.Ile33479Leu) c.100432A>C (p.Ile33478Leu) c.97474A>C (p.Ile32492Leu) c.79090A>C (p.Ile26364Leu) c.100585A>C (p.Ile33529Leu) c.100582A>C (p.Ile33528Leu) c.100015A>C (p.Ile33339Leu) c.97357A>C (p.Ile32453Leu) c.97276A>C (p.Ile32426Leu) c.79039A>C (p.Ile26347Leu) c.68893A>C (p.Ile22965Leu) | |
2 | g.178530472A= | CA1310514656 | TTN,TTN-AS1 | c.98439T= (p.Ser32813=) c.79524T= (p.Ser26508=) c.79323T= (p.Ser26441=) c.78948T= (p.Ser26316=) c.106143T= (p.Ser35381=) c.101220T= (p.Ser33740=) n.446+6836A= n.220-5260A= c.105240T= (p.Ser35080=) c.79134T= (p.Ser26378=) c.78993T= (p.Ser26331=) c.105036T= (p.Ser35012=) c.100434T= (p.Ser33478=) c.100431T= (p.Ser33477=) c.97473T= (p.Ser32491=) c.79089T= (p.Ser26363=) c.100584T= (p.Ser33528=) c.100581T= (p.Ser33527=) c.100014T= (p.Ser33338=) c.97356T= (p.Ser32452=) c.97275T= (p.Ser32425=) c.79038T= (p.Ser26346=) c.68892T= (p.Ser22964=) | |
2 | g.178530472A>C | CA349406938 | TTN,TTN-AS1 | c.98439T>G (p.Ser32813Arg) c.79524T>G (p.Ser26508Arg) c.79323T>G (p.Ser26441Arg) c.78948T>G (p.Ser26316Arg) c.106143T>G (p.Ser35381Arg) c.101220T>G (p.Ser33740Arg) n.446+6836A>C n.220-5260A>C c.105240T>G (p.Ser35080Arg) c.79134T>G (p.Ser26378Arg) c.78993T>G (p.Ser26331Arg) c.105036T>G (p.Ser35012Arg) c.100434T>G (p.Ser33478Arg) c.100431T>G (p.Ser33477Arg) c.97473T>G (p.Ser32491Arg) c.79089T>G (p.Ser26363Arg) c.100584T>G (p.Ser33528Arg) c.100581T>G (p.Ser33527Arg) c.100014T>G (p.Ser33338Arg) c.97356T>G (p.Ser32452Arg) c.97275T>G (p.Ser32425Arg) c.79038T>G (p.Ser26346Arg) c.68892T>G (p.Ser22964Arg) | |
2 | g.178530472A>G | CA60953382 | TTN,TTN-AS1 | c.98439T>C (p.Ser32813=) c.79524T>C (p.Ser26508=) c.79323T>C (p.Ser26441=) c.78948T>C (p.Ser26316=) c.106143T>C (p.Ser35381=) c.101220T>C (p.Ser33740=) n.446+6836A>G n.220-5260A>G c.105240T>C (p.Ser35080=) c.79134T>C (p.Ser26378=) c.78993T>C (p.Ser26331=) c.105036T>C (p.Ser35012=) c.100434T>C (p.Ser33478=) c.100431T>C (p.Ser33477=) c.97473T>C (p.Ser32491=) c.79089T>C (p.Ser26363=) c.100584T>C (p.Ser33528=) c.100581T>C (p.Ser33527=) c.100014T>C (p.Ser33338=) c.97356T>C (p.Ser32452=) c.97275T>C (p.Ser32425=) c.79038T>C (p.Ser26346=) c.68892T>C (p.Ser22964=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530472A>T | CA349406939 | TTN,TTN-AS1 | c.98439T>A (p.Ser32813Arg) c.79524T>A (p.Ser26508Arg) c.79323T>A (p.Ser26441Arg) c.78948T>A (p.Ser26316Arg) c.106143T>A (p.Ser35381Arg) c.101220T>A (p.Ser33740Arg) n.446+6836A>T n.220-5260A>T c.105240T>A (p.Ser35080Arg) c.79134T>A (p.Ser26378Arg) c.78993T>A (p.Ser26331Arg) c.105036T>A (p.Ser35012Arg) c.100434T>A (p.Ser33478Arg) c.100431T>A (p.Ser33477Arg) c.97473T>A (p.Ser32491Arg) c.79089T>A (p.Ser26363Arg) c.100584T>A (p.Ser33528Arg) c.100581T>A (p.Ser33527Arg) c.100014T>A (p.Ser33338Arg) c.97356T>A (p.Ser32452Arg) c.97275T>A (p.Ser32425Arg) c.79038T>A (p.Ser26346Arg) c.68892T>A (p.Ser22964Arg) | |
2 | g.178530473C>A | CA349406940 | TTN,TTN-AS1 | c.98438G>T (p.Ser32813Ile) c.79523G>T (p.Ser26508Ile) c.79322G>T (p.Ser26441Ile) c.78947G>T (p.Ser26316Ile) c.106142G>T (p.Ser35381Ile) c.101219G>T (p.Ser33740Ile) n.446+6837C>A n.220-5259C>A c.105239G>T (p.Ser35080Ile) c.79133G>T (p.Ser26378Ile) c.78992G>T (p.Ser26331Ile) c.105035G>T (p.Ser35012Ile) c.100433G>T (p.Ser33478Ile) c.100430G>T (p.Ser33477Ile) c.97472G>T (p.Ser32491Ile) c.79088G>T (p.Ser26363Ile) c.100583G>T (p.Ser33528Ile) c.100580G>T (p.Ser33527Ile) c.100013G>T (p.Ser33338Ile) c.97355G>T (p.Ser32452Ile) c.97274G>T (p.Ser32425Ile) c.79037G>T (p.Ser26346Ile) c.68891G>T (p.Ser22964Ile) | gnomAD v4 |
2 | g.178530473C= | CA1310514659 | TTN,TTN-AS1 | c.98438G= (p.Ser32813=) c.79523G= (p.Ser26508=) c.79322G= (p.Ser26441=) c.78947G= (p.Ser26316=) c.106142G= (p.Ser35381=) c.101219G= (p.Ser33740=) n.446+6837C= n.220-5259C= c.105239G= (p.Ser35080=) c.79133G= (p.Ser26378=) c.78992G= (p.Ser26331=) c.105035G= (p.Ser35012=) c.100433G= (p.Ser33478=) c.100430G= (p.Ser33477=) c.97472G= (p.Ser32491=) c.79088G= (p.Ser26363=) c.100583G= (p.Ser33528=) c.100580G= (p.Ser33527=) c.100013G= (p.Ser33338=) c.97355G= (p.Ser32452=) c.97274G= (p.Ser32425=) c.79037G= (p.Ser26346=) c.68891G= (p.Ser22964=) | |
2 | g.178530473C>G | CA349406941 | TTN,TTN-AS1 | c.98438G>C (p.Ser32813Thr) c.79523G>C (p.Ser26508Thr) c.79322G>C (p.Ser26441Thr) c.78947G>C (p.Ser26316Thr) c.106142G>C (p.Ser35381Thr) c.101219G>C (p.Ser33740Thr) n.446+6837C>G n.220-5259C>G c.105239G>C (p.Ser35080Thr) c.79133G>C (p.Ser26378Thr) c.78992G>C (p.Ser26331Thr) c.105035G>C (p.Ser35012Thr) c.100433G>C (p.Ser33478Thr) c.100430G>C (p.Ser33477Thr) c.97472G>C (p.Ser32491Thr) c.79088G>C (p.Ser26363Thr) c.100583G>C (p.Ser33528Thr) c.100580G>C (p.Ser33527Thr) c.100013G>C (p.Ser33338Thr) c.97355G>C (p.Ser32452Thr) c.97274G>C (p.Ser32425Thr) c.79037G>C (p.Ser26346Thr) c.68891G>C (p.Ser22964Thr) | |
2 | g.178530473C>T | CA349406942 | TTN,TTN-AS1 | c.98438G>A (p.Ser32813Asn) c.79523G>A (p.Ser26508Asn) c.79322G>A (p.Ser26441Asn) c.78947G>A (p.Ser26316Asn) c.106142G>A (p.Ser35381Asn) c.101219G>A (p.Ser33740Asn) n.446+6837C>T n.220-5259C>T c.105239G>A (p.Ser35080Asn) c.79133G>A (p.Ser26378Asn) c.78992G>A (p.Ser26331Asn) c.105035G>A (p.Ser35012Asn) c.100433G>A (p.Ser33478Asn) c.100430G>A (p.Ser33477Asn) c.97472G>A (p.Ser32491Asn) c.79088G>A (p.Ser26363Asn) c.100583G>A (p.Ser33528Asn) c.100580G>A (p.Ser33527Asn) c.100013G>A (p.Ser33338Asn) c.97355G>A (p.Ser32452Asn) c.97274G>A (p.Ser32425Asn) c.79037G>A (p.Ser26346Asn) c.68891G>A (p.Ser22964Asn) | dbSNP gnomAD v4 |
2 | g.178530474T>A | CA349406943 | TTN,TTN-AS1 | c.98437A>T (p.Ser32813Cys) c.79522A>T (p.Ser26508Cys) c.79321A>T (p.Ser26441Cys) c.78946A>T (p.Ser26316Cys) c.106141A>T (p.Ser35381Cys) c.101218A>T (p.Ser33740Cys) n.446+6838T>A n.220-5258T>A c.105238A>T (p.Ser35080Cys) c.79132A>T (p.Ser26378Cys) c.78991A>T (p.Ser26331Cys) c.105034A>T (p.Ser35012Cys) c.100432A>T (p.Ser33478Cys) c.100429A>T (p.Ser33477Cys) c.97471A>T (p.Ser32491Cys) c.79087A>T (p.Ser26363Cys) c.100582A>T (p.Ser33528Cys) c.100579A>T (p.Ser33527Cys) c.100012A>T (p.Ser33338Cys) c.97354A>T (p.Ser32452Cys) c.97273A>T (p.Ser32425Cys) c.79036A>T (p.Ser26346Cys) c.68890A>T (p.Ser22964Cys) | |
2 | g.178530474T>C | CA349406944 | TTN,TTN-AS1 | c.98437A>G (p.Ser32813Gly) c.79522A>G (p.Ser26508Gly) c.79321A>G (p.Ser26441Gly) c.78946A>G (p.Ser26316Gly) c.106141A>G (p.Ser35381Gly) c.101218A>G (p.Ser33740Gly) n.446+6838T>C n.220-5258T>C c.105238A>G (p.Ser35080Gly) c.79132A>G (p.Ser26378Gly) c.78991A>G (p.Ser26331Gly) c.105034A>G (p.Ser35012Gly) c.100432A>G (p.Ser33478Gly) c.100429A>G (p.Ser33477Gly) c.97471A>G (p.Ser32491Gly) c.79087A>G (p.Ser26363Gly) c.100582A>G (p.Ser33528Gly) c.100579A>G (p.Ser33527Gly) c.100012A>G (p.Ser33338Gly) c.97354A>G (p.Ser32452Gly) c.97273A>G (p.Ser32425Gly) c.79036A>G (p.Ser26346Gly) c.68890A>G (p.Ser22964Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530474T>G | CA349406945 | TTN,TTN-AS1 | c.98437A>C (p.Ser32813Arg) c.79522A>C (p.Ser26508Arg) c.79321A>C (p.Ser26441Arg) c.78946A>C (p.Ser26316Arg) c.106141A>C (p.Ser35381Arg) c.101218A>C (p.Ser33740Arg) n.446+6838T>G n.220-5258T>G c.105238A>C (p.Ser35080Arg) c.79132A>C (p.Ser26378Arg) c.78991A>C (p.Ser26331Arg) c.105034A>C (p.Ser35012Arg) c.100432A>C (p.Ser33478Arg) c.100429A>C (p.Ser33477Arg) c.97471A>C (p.Ser32491Arg) c.79087A>C (p.Ser26363Arg) c.100582A>C (p.Ser33528Arg) c.100579A>C (p.Ser33527Arg) c.100012A>C (p.Ser33338Arg) c.97354A>C (p.Ser32452Arg) c.97273A>C (p.Ser32425Arg) c.79036A>C (p.Ser26346Arg) c.68890A>C (p.Ser22964Arg) | |
2 | g.178530474T= | CA1310514661 | TTN,TTN-AS1 | c.98437A= (p.Ser32813=) c.79522A= (p.Ser26508=) c.79321A= (p.Ser26441=) c.78946A= (p.Ser26316=) c.106141A= (p.Ser35381=) c.101218A= (p.Ser33740=) n.446+6838T= n.220-5258T= c.105238A= (p.Ser35080=) c.79132A= (p.Ser26378=) c.78991A= (p.Ser26331=) c.105034A= (p.Ser35012=) c.100432A= (p.Ser33478=) c.100429A= (p.Ser33477=) c.97471A= (p.Ser32491=) c.79087A= (p.Ser26363=) c.100582A= (p.Ser33528=) c.100579A= (p.Ser33527=) c.100012A= (p.Ser33338=) c.97354A= (p.Ser32452=) c.97273A= (p.Ser32425=) c.79036A= (p.Ser26346=) c.68890A= (p.Ser22964=) | |
2 | g.178530475C>A | CA349406946 | TTN,TTN-AS1 | c.98436G>T (p.Lys32812Asn) c.79521G>T (p.Lys26507Asn) c.79320G>T (p.Lys26440Asn) c.78945G>T (p.Lys26315Asn) c.106140G>T (p.Lys35380Asn) c.101217G>T (p.Lys33739Asn) n.446+6839C>A n.220-5257C>A c.105237G>T (p.Lys35079Asn) c.79131G>T (p.Lys26377Asn) c.78990G>T (p.Lys26330Asn) c.105033G>T (p.Lys35011Asn) c.100431G>T (p.Lys33477Asn) c.100428G>T (p.Lys33476Asn) c.97470G>T (p.Lys32490Asn) c.79086G>T (p.Lys26362Asn) c.100581G>T (p.Lys33527Asn) c.100578G>T (p.Lys33526Asn) c.100011G>T (p.Lys33337Asn) c.97353G>T (p.Lys32451Asn) c.97272G>T (p.Lys32424Asn) c.79035G>T (p.Lys26345Asn) c.68889G>T (p.Lys22963Asn) | |
2 | g.178530475C>G | CA349406947 | TTN,TTN-AS1 | c.98436G>C (p.Lys32812Asn) c.79521G>C (p.Lys26507Asn) c.79320G>C (p.Lys26440Asn) c.78945G>C (p.Lys26315Asn) c.106140G>C (p.Lys35380Asn) c.101217G>C (p.Lys33739Asn) n.446+6839C>G n.220-5257C>G c.105237G>C (p.Lys35079Asn) c.79131G>C (p.Lys26377Asn) c.78990G>C (p.Lys26330Asn) c.105033G>C (p.Lys35011Asn) c.100431G>C (p.Lys33477Asn) c.100428G>C (p.Lys33476Asn) c.97470G>C (p.Lys32490Asn) c.79086G>C (p.Lys26362Asn) c.100581G>C (p.Lys33527Asn) c.100578G>C (p.Lys33526Asn) c.100011G>C (p.Lys33337Asn) c.97353G>C (p.Lys32451Asn) c.97272G>C (p.Lys32424Asn) c.79035G>C (p.Lys26345Asn) c.68889G>C (p.Lys22963Asn) | |
2 | g.178530475C>T | CA430235052 | TTN,TTN-AS1 | c.98436G>A (p.Lys32812=) c.79521G>A (p.Lys26507=) c.79320G>A (p.Lys26440=) c.78945G>A (p.Lys26315=) c.106140G>A (p.Lys35380=) c.101217G>A (p.Lys33739=) n.446+6839C>T n.220-5257C>T c.105237G>A (p.Lys35079=) c.79131G>A (p.Lys26377=) c.78990G>A (p.Lys26330=) c.105033G>A (p.Lys35011=) c.100431G>A (p.Lys33477=) c.100428G>A (p.Lys33476=) c.97470G>A (p.Lys32490=) c.79086G>A (p.Lys26362=) c.100581G>A (p.Lys33527=) c.100578G>A (p.Lys33526=) c.100011G>A (p.Lys33337=) c.97353G>A (p.Lys32451=) c.97272G>A (p.Lys32424=) c.79035G>A (p.Lys26345=) c.68889G>A (p.Lys22963=) | gnomAD v4 |
2 | g.178530476T>A | CA349406948 | TTN,TTN-AS1 | c.98435A>T (p.Lys32812Met) c.79520A>T (p.Lys26507Met) c.79319A>T (p.Lys26440Met) c.78944A>T (p.Lys26315Met) c.106139A>T (p.Lys35380Met) c.101216A>T (p.Lys33739Met) n.446+6840T>A n.220-5256T>A c.105236A>T (p.Lys35079Met) c.79130A>T (p.Lys26377Met) c.78989A>T (p.Lys26330Met) c.105032A>T (p.Lys35011Met) c.100430A>T (p.Lys33477Met) c.100427A>T (p.Lys33476Met) c.97469A>T (p.Lys32490Met) c.79085A>T (p.Lys26362Met) c.100580A>T (p.Lys33527Met) c.100577A>T (p.Lys33526Met) c.100010A>T (p.Lys33337Met) c.97352A>T (p.Lys32451Met) c.97271A>T (p.Lys32424Met) c.79034A>T (p.Lys26345Met) c.68888A>T (p.Lys22963Met) | |
2 | g.178530476T>C | CA349406949 | TTN,TTN-AS1 | c.98435A>G (p.Lys32812Arg) c.79520A>G (p.Lys26507Arg) c.79319A>G (p.Lys26440Arg) c.78944A>G (p.Lys26315Arg) c.106139A>G (p.Lys35380Arg) c.101216A>G (p.Lys33739Arg) n.446+6840T>C n.220-5256T>C c.105236A>G (p.Lys35079Arg) c.79130A>G (p.Lys26377Arg) c.78989A>G (p.Lys26330Arg) c.105032A>G (p.Lys35011Arg) c.100430A>G (p.Lys33477Arg) c.100427A>G (p.Lys33476Arg) c.97469A>G (p.Lys32490Arg) c.79085A>G (p.Lys26362Arg) c.100580A>G (p.Lys33527Arg) c.100577A>G (p.Lys33526Arg) c.100010A>G (p.Lys33337Arg) c.97352A>G (p.Lys32451Arg) c.97271A>G (p.Lys32424Arg) c.79034A>G (p.Lys26345Arg) c.68888A>G (p.Lys22963Arg) | |
2 | g.178530476T>G | CA349406950 | TTN,TTN-AS1 | c.98435A>C (p.Lys32812Thr) c.79520A>C (p.Lys26507Thr) c.79319A>C (p.Lys26440Thr) c.78944A>C (p.Lys26315Thr) c.106139A>C (p.Lys35380Thr) c.101216A>C (p.Lys33739Thr) n.446+6840T>G n.220-5256T>G c.105236A>C (p.Lys35079Thr) c.79130A>C (p.Lys26377Thr) c.78989A>C (p.Lys26330Thr) c.105032A>C (p.Lys35011Thr) c.100430A>C (p.Lys33477Thr) c.100427A>C (p.Lys33476Thr) c.97469A>C (p.Lys32490Thr) c.79085A>C (p.Lys26362Thr) c.100580A>C (p.Lys33527Thr) c.100577A>C (p.Lys33526Thr) c.100010A>C (p.Lys33337Thr) c.97352A>C (p.Lys32451Thr) c.97271A>C (p.Lys32424Thr) c.79034A>C (p.Lys26345Thr) c.68888A>C (p.Lys22963Thr) | |
2 | g.178530476_178530478dup | CA2573134091 | TTN,TTN-AS1 | c.98433_98435dup (p.Phe32811_Lys32812insAsn) c.79518_79520dup (p.Phe26506_Lys26507insAsn) c.79317_79319dup (p.Phe26439_Lys26440insAsn) c.78942_78944dup (p.Phe26314_Lys26315insAsn) c.106137_106139dup (p.Phe35379_Lys35380insAsn) c.101214_101216dup (p.Phe33738_Lys33739insAsn) n.446+6840_446+6842dup n.220-5256_220-5254dup c.105234_105236dup (p.Phe35078_Lys35079insAsn) c.79128_79130dup (p.Phe26376_Lys26377insAsn) c.78987_78989dup (p.Phe26329_Lys26330insAsn) c.105030_105032dup (p.Phe35010_Lys35011insAsn) c.100428_100430dup (p.Phe33476_Lys33477insAsn) c.100425_100427dup (p.Phe33475_Lys33476insAsn) c.97467_97469dup (p.Phe32489_Lys32490insAsn) c.79083_79085dup (p.Phe26361_Lys26362insAsn) c.100578_100580dup (p.Phe33526_Lys33527insAsn) c.100575_100577dup (p.Phe33525_Lys33526insAsn) c.100008_100010dup (p.Phe33336_Lys33337insAsn) c.97350_97352dup (p.Phe32450_Lys32451insAsn) c.97269_97271dup (p.Phe32423_Lys32424insAsn) c.79032_79034dup (p.Phe26344_Lys26345insAsn) c.68886_68888dup (p.Phe22962_Lys22963insAsn) | ClinVar dbSNP |
2 | g.178530477T>A | CA349406951 | TTN,TTN-AS1 | c.98434A>T (p.Lys32812Ter) c.79519A>T (p.Lys26507Ter) c.79318A>T (p.Lys26440Ter) c.78943A>T (p.Lys26315Ter) c.106138A>T (p.Lys35380Ter) c.101215A>T (p.Lys33739Ter) n.446+6841T>A n.220-5255T>A c.105235A>T (p.Lys35079Ter) c.79129A>T (p.Lys26377Ter) c.78988A>T (p.Lys26330Ter) c.105031A>T (p.Lys35011Ter) c.100429A>T (p.Lys33477Ter) c.100426A>T (p.Lys33476Ter) c.97468A>T (p.Lys32490Ter) c.79084A>T (p.Lys26362Ter) c.100579A>T (p.Lys33527Ter) c.100576A>T (p.Lys33526Ter) c.100009A>T (p.Lys33337Ter) c.97351A>T (p.Lys32451Ter) c.97270A>T (p.Lys32424Ter) c.79033A>T (p.Lys26345Ter) c.68887A>T (p.Lys22963Ter) | |
2 | g.178530477T>C | CA349406952 | TTN,TTN-AS1 | c.98434A>G (p.Lys32812Glu) c.79519A>G (p.Lys26507Glu) c.79318A>G (p.Lys26440Glu) c.78943A>G (p.Lys26315Glu) c.106138A>G (p.Lys35380Glu) c.101215A>G (p.Lys33739Glu) n.446+6841T>C n.220-5255T>C c.105235A>G (p.Lys35079Glu) c.79129A>G (p.Lys26377Glu) c.78988A>G (p.Lys26330Glu) c.105031A>G (p.Lys35011Glu) c.100429A>G (p.Lys33477Glu) c.100426A>G (p.Lys33476Glu) c.97468A>G (p.Lys32490Glu) c.79084A>G (p.Lys26362Glu) c.100579A>G (p.Lys33527Glu) c.100576A>G (p.Lys33526Glu) c.100009A>G (p.Lys33337Glu) c.97351A>G (p.Lys32451Glu) c.97270A>G (p.Lys32424Glu) c.79033A>G (p.Lys26345Glu) c.68887A>G (p.Lys22963Glu) | |
2 | g.178530477T>G | CA349406953 | TTN,TTN-AS1 | c.98434A>C (p.Lys32812Gln) c.79519A>C (p.Lys26507Gln) c.79318A>C (p.Lys26440Gln) c.78943A>C (p.Lys26315Gln) c.106138A>C (p.Lys35380Gln) c.101215A>C (p.Lys33739Gln) n.446+6841T>G n.220-5255T>G c.105235A>C (p.Lys35079Gln) c.79129A>C (p.Lys26377Gln) c.78988A>C (p.Lys26330Gln) c.105031A>C (p.Lys35011Gln) c.100429A>C (p.Lys33477Gln) c.100426A>C (p.Lys33476Gln) c.97468A>C (p.Lys32490Gln) c.79084A>C (p.Lys26362Gln) c.100579A>C (p.Lys33527Gln) c.100576A>C (p.Lys33526Gln) c.100009A>C (p.Lys33337Gln) c.97351A>C (p.Lys32451Gln) c.97270A>C (p.Lys32424Gln) c.79033A>C (p.Lys26345Gln) c.68887A>C (p.Lys22963Gln) | |
2 | g.178530477T= | CA1310514663 | TTN,TTN-AS1 | c.98434A= (p.Lys32812=) c.79519A= (p.Lys26507=) c.79318A= (p.Lys26440=) c.78943A= (p.Lys26315=) c.106138A= (p.Lys35380=) c.101215A= (p.Lys33739=) n.446+6841T= n.220-5255T= c.105235A= (p.Lys35079=) c.79129A= (p.Lys26377=) c.78988A= (p.Lys26330=) c.105031A= (p.Lys35011=) c.100429A= (p.Lys33477=) c.100426A= (p.Lys33476=) c.97468A= (p.Lys32490=) c.79084A= (p.Lys26362=) c.100579A= (p.Lys33527=) c.100576A= (p.Lys33526=) c.100009A= (p.Lys33337=) c.97351A= (p.Lys32451=) c.97270A= (p.Lys32424=) c.79033A= (p.Lys26345=) c.68887A= (p.Lys22963=) | |
2 | g.178530478A>C | CA349406954 | TTN,TTN-AS1 | c.98433T>G (p.Phe32811Leu) c.79518T>G (p.Phe26506Leu) c.79317T>G (p.Phe26439Leu) c.78942T>G (p.Phe26314Leu) c.106137T>G (p.Phe35379Leu) c.101214T>G (p.Phe33738Leu) n.446+6842A>C n.220-5254A>C c.105234T>G (p.Phe35078Leu) c.79128T>G (p.Phe26376Leu) c.78987T>G (p.Phe26329Leu) c.105030T>G (p.Phe35010Leu) c.100428T>G (p.Phe33476Leu) c.100425T>G (p.Phe33475Leu) c.97467T>G (p.Phe32489Leu) c.79083T>G (p.Phe26361Leu) c.100578T>G (p.Phe33526Leu) c.100575T>G (p.Phe33525Leu) c.100008T>G (p.Phe33336Leu) c.97350T>G (p.Phe32450Leu) c.97269T>G (p.Phe32423Leu) c.79032T>G (p.Phe26344Leu) c.68886T>G (p.Phe22962Leu) | |
2 | g.178530478A>G | CA430235058 | TTN,TTN-AS1 | c.98433T>C (p.Phe32811=) c.79518T>C (p.Phe26506=) c.79317T>C (p.Phe26439=) c.78942T>C (p.Phe26314=) c.106137T>C (p.Phe35379=) c.101214T>C (p.Phe33738=) n.446+6842A>G n.220-5254A>G c.105234T>C (p.Phe35078=) c.79128T>C (p.Phe26376=) c.78987T>C (p.Phe26329=) c.105030T>C (p.Phe35010=) c.100428T>C (p.Phe33476=) c.100425T>C (p.Phe33475=) c.97467T>C (p.Phe32489=) c.79083T>C (p.Phe26361=) c.100578T>C (p.Phe33526=) c.100575T>C (p.Phe33525=) c.100008T>C (p.Phe33336=) c.97350T>C (p.Phe32450=) c.97269T>C (p.Phe32423=) c.79032T>C (p.Phe26344=) c.68886T>C (p.Phe22962=) | |
2 | g.178530478A>T | CA349406955 | TTN,TTN-AS1 | c.98433T>A (p.Phe32811Leu) c.79518T>A (p.Phe26506Leu) c.79317T>A (p.Phe26439Leu) c.78942T>A (p.Phe26314Leu) c.106137T>A (p.Phe35379Leu) c.101214T>A (p.Phe33738Leu) n.446+6842A>T n.220-5254A>T c.105234T>A (p.Phe35078Leu) c.79128T>A (p.Phe26376Leu) c.78987T>A (p.Phe26329Leu) c.105030T>A (p.Phe35010Leu) c.100428T>A (p.Phe33476Leu) c.100425T>A (p.Phe33475Leu) c.97467T>A (p.Phe32489Leu) c.79083T>A (p.Phe26361Leu) c.100578T>A (p.Phe33526Leu) c.100575T>A (p.Phe33525Leu) c.100008T>A (p.Phe33336Leu) c.97350T>A (p.Phe32450Leu) c.97269T>A (p.Phe32423Leu) c.79032T>A (p.Phe26344Leu) c.68886T>A (p.Phe22962Leu) | |
2 | g.178530480dup | CA10606783 | TTN,TTN-AS1 | c.98433dup (p.Lys32812Ter) c.79518dup (p.Lys26507Ter) c.79317dup (p.Lys26440Ter) c.78942dup (p.Lys26315Ter) c.106137dup (p.Lys35380Ter) c.101214dup (p.Lys33739Ter) n.446+6844dup n.220-5252dup c.105234dup (p.Lys35079Ter) c.79128dup (p.Lys26377Ter) c.78987dup (p.Lys26330Ter) c.105030dup (p.Lys35011Ter) c.100428dup (p.Lys33477Ter) c.100425dup (p.Lys33476Ter) c.97467dup (p.Lys32490Ter) c.79083dup (p.Lys26362Ter) c.100578dup (p.Lys33527Ter) c.100575dup (p.Lys33526Ter) c.100008dup (p.Lys33337Ter) c.97350dup (p.Lys32451Ter) c.97269dup (p.Lys32424Ter) c.79032dup (p.Lys26345Ter) c.68886dup (p.Lys22963Ter) | ClinVar dbSNP |
2 | g.178530479A>C | CA349406956 | TTN,TTN-AS1 | c.98432T>G (p.Phe32811Cys) c.79517T>G (p.Phe26506Cys) c.79316T>G (p.Phe26439Cys) c.78941T>G (p.Phe26314Cys) c.106136T>G (p.Phe35379Cys) c.101213T>G (p.Phe33738Cys) n.446+6843A>C n.220-5253A>C c.105233T>G (p.Phe35078Cys) c.79127T>G (p.Phe26376Cys) c.78986T>G (p.Phe26329Cys) c.105029T>G (p.Phe35010Cys) c.100427T>G (p.Phe33476Cys) c.100424T>G (p.Phe33475Cys) c.97466T>G (p.Phe32489Cys) c.79082T>G (p.Phe26361Cys) c.100577T>G (p.Phe33526Cys) c.100574T>G (p.Phe33525Cys) c.100007T>G (p.Phe33336Cys) c.97349T>G (p.Phe32450Cys) c.97268T>G (p.Phe32423Cys) c.79031T>G (p.Phe26344Cys) c.68885T>G (p.Phe22962Cys) | |
2 | g.178530479A>G | CA349406957 | TTN,TTN-AS1 | c.98432T>C (p.Phe32811Ser) c.79517T>C (p.Phe26506Ser) c.79316T>C (p.Phe26439Ser) c.78941T>C (p.Phe26314Ser) c.106136T>C (p.Phe35379Ser) c.101213T>C (p.Phe33738Ser) n.446+6843A>G n.220-5253A>G c.105233T>C (p.Phe35078Ser) c.79127T>C (p.Phe26376Ser) c.78986T>C (p.Phe26329Ser) c.105029T>C (p.Phe35010Ser) c.100427T>C (p.Phe33476Ser) c.100424T>C (p.Phe33475Ser) c.97466T>C (p.Phe32489Ser) c.79082T>C (p.Phe26361Ser) c.100577T>C (p.Phe33526Ser) c.100574T>C (p.Phe33525Ser) c.100007T>C (p.Phe33336Ser) c.97349T>C (p.Phe32450Ser) c.97268T>C (p.Phe32423Ser) c.79031T>C (p.Phe26344Ser) c.68885T>C (p.Phe22962Ser) | |
2 | g.178530479A>T | CA349406958 | TTN,TTN-AS1 | c.98432T>A (p.Phe32811Tyr) c.79517T>A (p.Phe26506Tyr) c.79316T>A (p.Phe26439Tyr) c.78941T>A (p.Phe26314Tyr) c.106136T>A (p.Phe35379Tyr) c.101213T>A (p.Phe33738Tyr) n.446+6843A>T n.220-5253A>T c.105233T>A (p.Phe35078Tyr) c.79127T>A (p.Phe26376Tyr) c.78986T>A (p.Phe26329Tyr) c.105029T>A (p.Phe35010Tyr) c.100427T>A (p.Phe33476Tyr) c.100424T>A (p.Phe33475Tyr) c.97466T>A (p.Phe32489Tyr) c.79082T>A (p.Phe26361Tyr) c.100577T>A (p.Phe33526Tyr) c.100574T>A (p.Phe33525Tyr) c.100007T>A (p.Phe33336Tyr) c.97349T>A (p.Phe32450Tyr) c.97268T>A (p.Phe32423Tyr) c.79031T>A (p.Phe26344Tyr) c.68885T>A (p.Phe22962Tyr) | |
2 | g.178530480A>C | CA349406960 | TTN,TTN-AS1 | c.98431T>G (p.Phe32811Val) c.79516T>G (p.Phe26506Val) c.79315T>G (p.Phe26439Val) c.78940T>G (p.Phe26314Val) c.106135T>G (p.Phe35379Val) c.101212T>G (p.Phe33738Val) n.446+6844A>C n.220-5252A>C c.105232T>G (p.Phe35078Val) c.79126T>G (p.Phe26376Val) c.78985T>G (p.Phe26329Val) c.105028T>G (p.Phe35010Val) c.100426T>G (p.Phe33476Val) c.100423T>G (p.Phe33475Val) c.97465T>G (p.Phe32489Val) c.79081T>G (p.Phe26361Val) c.100576T>G (p.Phe33526Val) c.100573T>G (p.Phe33525Val) c.100006T>G (p.Phe33336Val) c.97348T>G (p.Phe32450Val) c.97267T>G (p.Phe32423Val) c.79030T>G (p.Phe26344Val) c.68884T>G (p.Phe22962Val) | |
2 | g.178530480A>G | CA349406961 | TTN,TTN-AS1 | c.98431T>C (p.Phe32811Leu) c.79516T>C (p.Phe26506Leu) c.79315T>C (p.Phe26439Leu) c.78940T>C (p.Phe26314Leu) c.106135T>C (p.Phe35379Leu) c.101212T>C (p.Phe33738Leu) n.446+6844A>G n.220-5252A>G c.105232T>C (p.Phe35078Leu) c.79126T>C (p.Phe26376Leu) c.78985T>C (p.Phe26329Leu) c.105028T>C (p.Phe35010Leu) c.100426T>C (p.Phe33476Leu) c.100423T>C (p.Phe33475Leu) c.97465T>C (p.Phe32489Leu) c.79081T>C (p.Phe26361Leu) c.100576T>C (p.Phe33526Leu) c.100573T>C (p.Phe33525Leu) c.100006T>C (p.Phe33336Leu) c.97348T>C (p.Phe32450Leu) c.97267T>C (p.Phe32423Leu) c.79030T>C (p.Phe26344Leu) c.68884T>C (p.Phe22962Leu) | |
2 | g.178530480A>T | CA349406959 | TTN,TTN-AS1 | c.98431T>A (p.Phe32811Ile) c.79516T>A (p.Phe26506Ile) c.79315T>A (p.Phe26439Ile) c.78940T>A (p.Phe26314Ile) c.106135T>A (p.Phe35379Ile) c.101212T>A (p.Phe33738Ile) n.446+6844A>T n.220-5252A>T c.105232T>A (p.Phe35078Ile) c.79126T>A (p.Phe26376Ile) c.78985T>A (p.Phe26329Ile) c.105028T>A (p.Phe35010Ile) c.100426T>A (p.Phe33476Ile) c.100423T>A (p.Phe33475Ile) c.97465T>A (p.Phe32489Ile) c.79081T>A (p.Phe26361Ile) c.100576T>A (p.Phe33526Ile) c.100573T>A (p.Phe33525Ile) c.100006T>A (p.Phe33336Ile) c.97348T>A (p.Phe32450Ile) c.97267T>A (p.Phe32423Ile) c.79030T>A (p.Phe26344Ile) c.68884T>A (p.Phe22962Ile) | |
2 | g.178530481G>A | CA430235061 | TTN,TTN-AS1 | c.98430C>T (p.Ala32810=) c.79515C>T (p.Ala26505=) c.79314C>T (p.Ala26438=) c.78939C>T (p.Ala26313=) c.106134C>T (p.Ala35378=) c.101211C>T (p.Ala33737=) n.446+6845G>A n.220-5251G>A c.105231C>T (p.Ala35077=) c.79125C>T (p.Ala26375=) c.78984C>T (p.Ala26328=) c.105027C>T (p.Ala35009=) c.100425C>T (p.Ala33475=) c.100422C>T (p.Ala33474=) c.97464C>T (p.Ala32488=) c.79080C>T (p.Ala26360=) c.100575C>T (p.Ala33525=) c.100572C>T (p.Ala33524=) c.100005C>T (p.Ala33335=) c.97347C>T (p.Ala32449=) c.97266C>T (p.Ala32422=) c.79029C>T (p.Ala26343=) c.68883C>T (p.Ala22961=) | |
2 | g.178530481G>C | CA430235063 | TTN,TTN-AS1 | c.98430C>G (p.Ala32810=) c.79515C>G (p.Ala26505=) c.79314C>G (p.Ala26438=) c.78939C>G (p.Ala26313=) c.106134C>G (p.Ala35378=) c.101211C>G (p.Ala33737=) n.446+6845G>C n.220-5251G>C c.105231C>G (p.Ala35077=) c.79125C>G (p.Ala26375=) c.78984C>G (p.Ala26328=) c.105027C>G (p.Ala35009=) c.100425C>G (p.Ala33475=) c.100422C>G (p.Ala33474=) c.97464C>G (p.Ala32488=) c.79080C>G (p.Ala26360=) c.100575C>G (p.Ala33525=) c.100572C>G (p.Ala33524=) c.100005C>G (p.Ala33335=) c.97347C>G (p.Ala32449=) c.97266C>G (p.Ala32422=) c.79029C>G (p.Ala26343=) c.68883C>G (p.Ala22961=) | |
2 | g.178530481G= | CA1310514666 | TTN,TTN-AS1 | c.98430C= (p.Ala32810=) c.79515C= (p.Ala26505=) c.79314C= (p.Ala26438=) c.78939C= (p.Ala26313=) c.106134C= (p.Ala35378=) c.101211C= (p.Ala33737=) n.446+6845G= n.220-5251G= c.105231C= (p.Ala35077=) c.79125C= (p.Ala26375=) c.78984C= (p.Ala26328=) c.105027C= (p.Ala35009=) c.100425C= (p.Ala33475=) c.100422C= (p.Ala33474=) c.97464C= (p.Ala32488=) c.79080C= (p.Ala26360=) c.100575C= (p.Ala33525=) c.100572C= (p.Ala33524=) c.100005C= (p.Ala33335=) c.97347C= (p.Ala32449=) c.97266C= (p.Ala32422=) c.79029C= (p.Ala26343=) c.68883C= (p.Ala22961=) | |
2 | g.178530481G>T | CA1985158 | TTN,TTN-AS1 | c.98430C>A (p.Ala32810=) c.79515C>A (p.Ala26505=) c.79314C>A (p.Ala26438=) c.78939C>A (p.Ala26313=) c.106134C>A (p.Ala35378=) c.101211C>A (p.Ala33737=) n.446+6845G>T n.220-5251G>T c.105231C>A (p.Ala35077=) c.79125C>A (p.Ala26375=) c.78984C>A (p.Ala26328=) c.105027C>A (p.Ala35009=) c.100425C>A (p.Ala33475=) c.100422C>A (p.Ala33474=) c.97464C>A (p.Ala32488=) c.79080C>A (p.Ala26360=) c.100575C>A (p.Ala33525=) c.100572C>A (p.Ala33524=) c.100005C>A (p.Ala33335=) c.97347C>A (p.Ala32449=) c.97266C>A (p.Ala32422=) c.79029C>A (p.Ala26343=) c.68883C>A (p.Ala22961=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530482G>A | CA1985159 | TTN,TTN-AS1 | c.98429C>T (p.Ala32810Val) c.79514C>T (p.Ala26505Val) c.79313C>T (p.Ala26438Val) c.78938C>T (p.Ala26313Val) c.106133C>T (p.Ala35378Val) c.101210C>T (p.Ala33737Val) n.446+6846G>A n.220-5250G>A c.105230C>T (p.Ala35077Val) c.79124C>T (p.Ala26375Val) c.78983C>T (p.Ala26328Val) c.105026C>T (p.Ala35009Val) c.100424C>T (p.Ala33475Val) c.100421C>T (p.Ala33474Val) c.97463C>T (p.Ala32488Val) c.79079C>T (p.Ala26360Val) c.100574C>T (p.Ala33525Val) c.100571C>T (p.Ala33524Val) c.100004C>T (p.Ala33335Val) c.97346C>T (p.Ala32449Val) c.97265C>T (p.Ala32422Val) c.79028C>T (p.Ala26343Val) c.68882C>T (p.Ala22961Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530482G>C | CA311252 | TTN,TTN-AS1 | c.98429C>G (p.Ala32810Gly) c.79514C>G (p.Ala26505Gly) c.79313C>G (p.Ala26438Gly) c.78938C>G (p.Ala26313Gly) c.106133C>G (p.Ala35378Gly) c.101210C>G (p.Ala33737Gly) n.446+6846G>C n.220-5250G>C c.105230C>G (p.Ala35077Gly) c.79124C>G (p.Ala26375Gly) c.78983C>G (p.Ala26328Gly) c.105026C>G (p.Ala35009Gly) c.100424C>G (p.Ala33475Gly) c.100421C>G (p.Ala33474Gly) c.97463C>G (p.Ala32488Gly) c.79079C>G (p.Ala26360Gly) c.100574C>G (p.Ala33525Gly) c.100571C>G (p.Ala33524Gly) c.100004C>G (p.Ala33335Gly) c.97346C>G (p.Ala32449Gly) c.97265C>G (p.Ala32422Gly) c.79028C>G (p.Ala26343Gly) c.68882C>G (p.Ala22961Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530482G= | CA1310514670 | TTN,TTN-AS1 | c.98429C= (p.Ala32810=) c.79514C= (p.Ala26505=) c.79313C= (p.Ala26438=) c.78938C= (p.Ala26313=) c.106133C= (p.Ala35378=) c.101210C= (p.Ala33737=) n.446+6846G= n.220-5250G= c.105230C= (p.Ala35077=) c.79124C= (p.Ala26375=) c.78983C= (p.Ala26328=) c.105026C= (p.Ala35009=) c.100424C= (p.Ala33475=) c.100421C= (p.Ala33474=) c.97463C= (p.Ala32488=) c.79079C= (p.Ala26360=) c.100574C= (p.Ala33525=) c.100571C= (p.Ala33524=) c.100004C= (p.Ala33335=) c.97346C= (p.Ala32449=) c.97265C= (p.Ala32422=) c.79028C= (p.Ala26343=) c.68882C= (p.Ala22961=) | |
2 | g.178530482G>T | CA349406962 | TTN,TTN-AS1 | c.98429C>A (p.Ala32810Asp) c.79514C>A (p.Ala26505Asp) c.79313C>A (p.Ala26438Asp) c.78938C>A (p.Ala26313Asp) c.106133C>A (p.Ala35378Asp) c.101210C>A (p.Ala33737Asp) n.446+6846G>T n.220-5250G>T c.105230C>A (p.Ala35077Asp) c.79124C>A (p.Ala26375Asp) c.78983C>A (p.Ala26328Asp) c.105026C>A (p.Ala35009Asp) c.100424C>A (p.Ala33475Asp) c.100421C>A (p.Ala33474Asp) c.97463C>A (p.Ala32488Asp) c.79079C>A (p.Ala26360Asp) c.100574C>A (p.Ala33525Asp) c.100571C>A (p.Ala33524Asp) c.100004C>A (p.Ala33335Asp) c.97346C>A (p.Ala32449Asp) c.97265C>A (p.Ala32422Asp) c.79028C>A (p.Ala26343Asp) c.68882C>A (p.Ala22961Asp) | gnomAD v4 |
2 | g.178530482_178530483insTCTCTTT | CA538434967 | TTN,TTN-AS1 | c.98428_98429insAAAGAGA (p.Ala32810GlufsTer5) c.79513_79514insAAAGAGA (p.Ala26505GlufsTer5) c.79312_79313insAAAGAGA (p.Ala26438GlufsTer5) c.78937_78938insAAAGAGA (p.Ala26313GlufsTer5) c.106132_106133insAAAGAGA (p.Ala35378GlufsTer5) c.101209_101210insAAAGAGA (p.Ala33737GlufsTer5) n.446+6846_446+6847insTCTCTTT n.220-5250_220-5249insTCTCTTT c.105229_105230insAAAGAGA (p.Ala35077GlufsTer5) c.79123_79124insAAAGAGA (p.Ala26375GlufsTer5) c.78982_78983insAAAGAGA (p.Ala26328GlufsTer5) c.105025_105026insAAAGAGA (p.Ala35009GlufsTer5) c.100423_100424insAAAGAGA (p.Ala33475GlufsTer5) c.100420_100421insAAAGAGA (p.Ala33474GlufsTer5) c.97462_97463insAAAGAGA (p.Ala32488GlufsTer5) c.79078_79079insAAAGAGA (p.Ala26360GlufsTer5) c.100573_100574insAAAGAGA (p.Ala33525GlufsTer5) c.100570_100571insAAAGAGA (p.Ala33524GlufsTer5) c.100003_100004insAAAGAGA (p.Ala33335GlufsTer5) c.97345_97346insAAAGAGA (p.Ala32449GlufsTer5) c.97264_97265insAAAGAGA (p.Ala32422GlufsTer5) c.79027_79028insAAAGAGA (p.Ala26343GlufsTer5) c.68881_68882insAAAGAGA (p.Ala22961GlufsTer5) | gnomAD v2 |
2 | g.178530483C>A | CA349406963 | TTN,TTN-AS1 | c.98428G>T (p.Ala32810Ser) c.79513G>T (p.Ala26505Ser) c.79312G>T (p.Ala26438Ser) c.78937G>T (p.Ala26313Ser) c.106132G>T (p.Ala35378Ser) c.101209G>T (p.Ala33737Ser) n.446+6847C>A n.220-5249C>A c.105229G>T (p.Ala35077Ser) c.79123G>T (p.Ala26375Ser) c.78982G>T (p.Ala26328Ser) c.105025G>T (p.Ala35009Ser) c.100423G>T (p.Ala33475Ser) c.100420G>T (p.Ala33474Ser) c.97462G>T (p.Ala32488Ser) c.79078G>T (p.Ala26360Ser) c.100573G>T (p.Ala33525Ser) c.100570G>T (p.Ala33524Ser) c.100003G>T (p.Ala33335Ser) c.97345G>T (p.Ala32449Ser) c.97264G>T (p.Ala32422Ser) c.79027G>T (p.Ala26343Ser) c.68881G>T (p.Ala22961Ser) | |
2 | g.178530483C>G | CA349406964 | TTN,TTN-AS1 | c.98428G>C (p.Ala32810Pro) c.79513G>C (p.Ala26505Pro) c.79312G>C (p.Ala26438Pro) c.78937G>C (p.Ala26313Pro) c.106132G>C (p.Ala35378Pro) c.101209G>C (p.Ala33737Pro) n.446+6847C>G n.220-5249C>G c.105229G>C (p.Ala35077Pro) c.79123G>C (p.Ala26375Pro) c.78982G>C (p.Ala26328Pro) c.105025G>C (p.Ala35009Pro) c.100423G>C (p.Ala33475Pro) c.100420G>C (p.Ala33474Pro) c.97462G>C (p.Ala32488Pro) c.79078G>C (p.Ala26360Pro) c.100573G>C (p.Ala33525Pro) c.100570G>C (p.Ala33524Pro) c.100003G>C (p.Ala33335Pro) c.97345G>C (p.Ala32449Pro) c.97264G>C (p.Ala32422Pro) c.79027G>C (p.Ala26343Pro) c.68881G>C (p.Ala22961Pro) | |
2 | g.178530483C>T | CA349406965 | TTN,TTN-AS1 | c.98428G>A (p.Ala32810Thr) c.79513G>A (p.Ala26505Thr) c.79312G>A (p.Ala26438Thr) c.78937G>A (p.Ala26313Thr) c.106132G>A (p.Ala35378Thr) c.101209G>A (p.Ala33737Thr) n.446+6847C>T n.220-5249C>T c.105229G>A (p.Ala35077Thr) c.79123G>A (p.Ala26375Thr) c.78982G>A (p.Ala26328Thr) c.105025G>A (p.Ala35009Thr) c.100423G>A (p.Ala33475Thr) c.100420G>A (p.Ala33474Thr) c.97462G>A (p.Ala32488Thr) c.79078G>A (p.Ala26360Thr) c.100573G>A (p.Ala33525Thr) c.100570G>A (p.Ala33524Thr) c.100003G>A (p.Ala33335Thr) c.97345G>A (p.Ala32449Thr) c.97264G>A (p.Ala32422Thr) c.79027G>A (p.Ala26343Thr) c.68881G>A (p.Ala22961Thr) | gnomAD v4 |
2 | g.178530484T>A | CA349406966 | TTN,TTN-AS1 | c.98427A>T (p.Gln32809His) c.79512A>T (p.Gln26504His) c.79311A>T (p.Gln26437His) c.78936A>T (p.Gln26312His) c.106131A>T (p.Gln35377His) c.101208A>T (p.Gln33736His) n.446+6848T>A n.220-5248T>A c.105228A>T (p.Gln35076His) c.79122A>T (p.Gln26374His) c.78981A>T (p.Gln26327His) c.105024A>T (p.Gln35008His) c.100422A>T (p.Gln33474His) c.100419A>T (p.Gln33473His) c.97461A>T (p.Gln32487His) c.79077A>T (p.Gln26359His) c.100572A>T (p.Gln33524His) c.100569A>T (p.Gln33523His) c.100002A>T (p.Gln33334His) c.97344A>T (p.Gln32448His) c.97263A>T (p.Gln32421His) c.79026A>T (p.Gln26342His) c.68880A>T (p.Gln22960His) | dbSNP gnomAD v2 |
2 | g.178530484T>C | CA430235070 | TTN,TTN-AS1 | c.98427A>G (p.Gln32809=) c.79512A>G (p.Gln26504=) c.79311A>G (p.Gln26437=) c.78936A>G (p.Gln26312=) c.106131A>G (p.Gln35377=) c.101208A>G (p.Gln33736=) n.446+6848T>C n.220-5248T>C c.105228A>G (p.Gln35076=) c.79122A>G (p.Gln26374=) c.78981A>G (p.Gln26327=) c.105024A>G (p.Gln35008=) c.100422A>G (p.Gln33474=) c.100419A>G (p.Gln33473=) c.97461A>G (p.Gln32487=) c.79077A>G (p.Gln26359=) c.100572A>G (p.Gln33524=) c.100569A>G (p.Gln33523=) c.100002A>G (p.Gln33334=) c.97344A>G (p.Gln32448=) c.97263A>G (p.Gln32421=) c.79026A>G (p.Gln26342=) c.68880A>G (p.Gln22960=) | |
2 | g.178530484T>G | CA349406967 | TTN,TTN-AS1 | c.98427A>C (p.Gln32809His) c.79512A>C (p.Gln26504His) c.79311A>C (p.Gln26437His) c.78936A>C (p.Gln26312His) c.106131A>C (p.Gln35377His) c.101208A>C (p.Gln33736His) n.446+6848T>G n.220-5248T>G c.105228A>C (p.Gln35076His) c.79122A>C (p.Gln26374His) c.78981A>C (p.Gln26327His) c.105024A>C (p.Gln35008His) c.100422A>C (p.Gln33474His) c.100419A>C (p.Gln33473His) c.97461A>C (p.Gln32487His) c.79077A>C (p.Gln26359His) c.100572A>C (p.Gln33524His) c.100569A>C (p.Gln33523His) c.100002A>C (p.Gln33334His) c.97344A>C (p.Gln32448His) c.97263A>C (p.Gln32421His) c.79026A>C (p.Gln26342His) c.68880A>C (p.Gln22960His) | |
2 | g.178530484T= | CA1310514674 | TTN,TTN-AS1 | c.98427A= (p.Gln32809=) c.79512A= (p.Gln26504=) c.79311A= (p.Gln26437=) c.78936A= (p.Gln26312=) c.106131A= (p.Gln35377=) c.101208A= (p.Gln33736=) n.446+6848T= n.220-5248T= c.105228A= (p.Gln35076=) c.79122A= (p.Gln26374=) c.78981A= (p.Gln26327=) c.105024A= (p.Gln35008=) c.100422A= (p.Gln33474=) c.100419A= (p.Gln33473=) c.97461A= (p.Gln32487=) c.79077A= (p.Gln26359=) c.100572A= (p.Gln33524=) c.100569A= (p.Gln33523=) c.100002A= (p.Gln33334=) c.97344A= (p.Gln32448=) c.97263A= (p.Gln32421=) c.79026A= (p.Gln26342=) c.68880A= (p.Gln22960=) | |
2 | g.178530485T>A | CA349406968 | TTN,TTN-AS1 | c.98426A>T (p.Gln32809Leu) c.79511A>T (p.Gln26504Leu) c.79310A>T (p.Gln26437Leu) c.78935A>T (p.Gln26312Leu) c.106130A>T (p.Gln35377Leu) c.101207A>T (p.Gln33736Leu) n.446+6849T>A n.220-5247T>A c.105227A>T (p.Gln35076Leu) c.79121A>T (p.Gln26374Leu) c.78980A>T (p.Gln26327Leu) c.105023A>T (p.Gln35008Leu) c.100421A>T (p.Gln33474Leu) c.100418A>T (p.Gln33473Leu) c.97460A>T (p.Gln32487Leu) c.79076A>T (p.Gln26359Leu) c.100571A>T (p.Gln33524Leu) c.100568A>T (p.Gln33523Leu) c.100001A>T (p.Gln33334Leu) c.97343A>T (p.Gln32448Leu) c.97262A>T (p.Gln32421Leu) c.79025A>T (p.Gln26342Leu) c.68879A>T (p.Gln22960Leu) | |
2 | g.178530485T>C | CA349406969 | TTN,TTN-AS1 | c.98426A>G (p.Gln32809Arg) c.79511A>G (p.Gln26504Arg) c.79310A>G (p.Gln26437Arg) c.78935A>G (p.Gln26312Arg) c.106130A>G (p.Gln35377Arg) c.101207A>G (p.Gln33736Arg) n.446+6849T>C n.220-5247T>C c.105227A>G (p.Gln35076Arg) c.79121A>G (p.Gln26374Arg) c.78980A>G (p.Gln26327Arg) c.105023A>G (p.Gln35008Arg) c.100421A>G (p.Gln33474Arg) c.100418A>G (p.Gln33473Arg) c.97460A>G (p.Gln32487Arg) c.79076A>G (p.Gln26359Arg) c.100571A>G (p.Gln33524Arg) c.100568A>G (p.Gln33523Arg) c.100001A>G (p.Gln33334Arg) c.97343A>G (p.Gln32448Arg) c.97262A>G (p.Gln32421Arg) c.79025A>G (p.Gln26342Arg) c.68879A>G (p.Gln22960Arg) | |
2 | g.178530485T>G | CA349406970 | TTN,TTN-AS1 | c.98426A>C (p.Gln32809Pro) c.79511A>C (p.Gln26504Pro) c.79310A>C (p.Gln26437Pro) c.78935A>C (p.Gln26312Pro) c.106130A>C (p.Gln35377Pro) c.101207A>C (p.Gln33736Pro) n.446+6849T>G n.220-5247T>G c.105227A>C (p.Gln35076Pro) c.79121A>C (p.Gln26374Pro) c.78980A>C (p.Gln26327Pro) c.105023A>C (p.Gln35008Pro) c.100421A>C (p.Gln33474Pro) c.100418A>C (p.Gln33473Pro) c.97460A>C (p.Gln32487Pro) c.79076A>C (p.Gln26359Pro) c.100571A>C (p.Gln33524Pro) c.100568A>C (p.Gln33523Pro) c.100001A>C (p.Gln33334Pro) c.97343A>C (p.Gln32448Pro) c.97262A>C (p.Gln32421Pro) c.79025A>C (p.Gln26342Pro) c.68879A>C (p.Gln22960Pro) | |
2 | g.178530486G>A | CA349406971 | TTN,TTN-AS1 | c.98425C>T (p.Gln32809Ter) c.79510C>T (p.Gln26504Ter) c.79309C>T (p.Gln26437Ter) c.78934C>T (p.Gln26312Ter) c.106129C>T (p.Gln35377Ter) c.101206C>T (p.Gln33736Ter) n.446+6850G>A n.220-5246G>A c.105226C>T (p.Gln35076Ter) c.79120C>T (p.Gln26374Ter) c.78979C>T (p.Gln26327Ter) c.105022C>T (p.Gln35008Ter) c.100420C>T (p.Gln33474Ter) c.100417C>T (p.Gln33473Ter) c.97459C>T (p.Gln32487Ter) c.79075C>T (p.Gln26359Ter) c.100570C>T (p.Gln33524Ter) c.100567C>T (p.Gln33523Ter) c.100000C>T (p.Gln33334Ter) c.97342C>T (p.Gln32448Ter) c.97261C>T (p.Gln32421Ter) c.79024C>T (p.Gln26342Ter) c.68878C>T (p.Gln22960Ter) | |
2 | g.178530486G>C | CA349406972 | TTN,TTN-AS1 | c.98425C>G (p.Gln32809Glu) c.79510C>G (p.Gln26504Glu) c.79309C>G (p.Gln26437Glu) c.78934C>G (p.Gln26312Glu) c.106129C>G (p.Gln35377Glu) c.101206C>G (p.Gln33736Glu) n.446+6850G>C n.220-5246G>C c.105226C>G (p.Gln35076Glu) c.79120C>G (p.Gln26374Glu) c.78979C>G (p.Gln26327Glu) c.105022C>G (p.Gln35008Glu) c.100420C>G (p.Gln33474Glu) c.100417C>G (p.Gln33473Glu) c.97459C>G (p.Gln32487Glu) c.79075C>G (p.Gln26359Glu) c.100570C>G (p.Gln33524Glu) c.100567C>G (p.Gln33523Glu) c.100000C>G (p.Gln33334Glu) c.97342C>G (p.Gln32448Glu) c.97261C>G (p.Gln32421Glu) c.79024C>G (p.Gln26342Glu) c.68878C>G (p.Gln22960Glu) | |
2 | g.178530486G= | CA1310514676 | TTN,TTN-AS1 | c.98425C= (p.Gln32809=) c.79510C= (p.Gln26504=) c.79309C= (p.Gln26437=) c.78934C= (p.Gln26312=) c.106129C= (p.Gln35377=) c.101206C= (p.Gln33736=) n.446+6850G= n.220-5246G= c.105226C= (p.Gln35076=) c.79120C= (p.Gln26374=) c.78979C= (p.Gln26327=) c.105022C= (p.Gln35008=) c.100420C= (p.Gln33474=) c.100417C= (p.Gln33473=) c.97459C= (p.Gln32487=) c.79075C= (p.Gln26359=) c.100570C= (p.Gln33524=) c.100567C= (p.Gln33523=) c.100000C= (p.Gln33334=) c.97342C= (p.Gln32448=) c.97261C= (p.Gln32421=) c.79024C= (p.Gln26342=) c.68878C= (p.Gln22960=) | |
2 | g.178530486G>T | CA1985160 | TTN,TTN-AS1 | c.98425C>A (p.Gln32809Lys) c.79510C>A (p.Gln26504Lys) c.79309C>A (p.Gln26437Lys) c.78934C>A (p.Gln26312Lys) c.106129C>A (p.Gln35377Lys) c.101206C>A (p.Gln33736Lys) n.446+6850G>T n.220-5246G>T c.105226C>A (p.Gln35076Lys) c.79120C>A (p.Gln26374Lys) c.78979C>A (p.Gln26327Lys) c.105022C>A (p.Gln35008Lys) c.100420C>A (p.Gln33474Lys) c.100417C>A (p.Gln33473Lys) c.97459C>A (p.Gln32487Lys) c.79075C>A (p.Gln26359Lys) c.100570C>A (p.Gln33524Lys) c.100567C>A (p.Gln33523Lys) c.100000C>A (p.Gln33334Lys) c.97342C>A (p.Gln32448Lys) c.97261C>A (p.Gln32421Lys) c.79024C>A (p.Gln26342Lys) c.68878C>A (p.Gln22960Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530487C>A | CA1985161 | TTN,TTN-AS1 | c.98424G>T (p.Gly32808=) c.79509G>T (p.Gly26503=) c.79308G>T (p.Gly26436=) c.78933G>T (p.Gly26311=) c.106128G>T (p.Gly35376=) c.101205G>T (p.Gly33735=) n.446+6851C>A n.220-5245C>A c.105225G>T (p.Gly35075=) c.79119G>T (p.Gly26373=) c.78978G>T (p.Gly26326=) c.105021G>T (p.Gly35007=) c.100419G>T (p.Gly33473=) c.100416G>T (p.Gly33472=) c.97458G>T (p.Gly32486=) c.79074G>T (p.Gly26358=) c.100569G>T (p.Gly33523=) c.100566G>T (p.Gly33522=) c.99999G>T (p.Gly33333=) c.97341G>T (p.Gly32447=) c.97260G>T (p.Gly32420=) c.79023G>T (p.Gly26341=) c.68877G>T (p.Gly22959=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530487C= | CA1310514678 | TTN,TTN-AS1 | c.98424G= (p.Gly32808=) c.79509G= (p.Gly26503=) c.79308G= (p.Gly26436=) c.78933G= (p.Gly26311=) c.106128G= (p.Gly35376=) c.101205G= (p.Gly33735=) n.446+6851C= n.220-5245C= c.105225G= (p.Gly35075=) c.79119G= (p.Gly26373=) c.78978G= (p.Gly26326=) c.105021G= (p.Gly35007=) c.100419G= (p.Gly33473=) c.100416G= (p.Gly33472=) c.97458G= (p.Gly32486=) c.79074G= (p.Gly26358=) c.100569G= (p.Gly33523=) c.100566G= (p.Gly33522=) c.99999G= (p.Gly33333=) c.97341G= (p.Gly32447=) c.97260G= (p.Gly32420=) c.79023G= (p.Gly26341=) c.68877G= (p.Gly22959=) | |
2 | g.178530487C>G | CA430235075 | TTN,TTN-AS1 | c.98424G>C (p.Gly32808=) c.79509G>C (p.Gly26503=) c.79308G>C (p.Gly26436=) c.78933G>C (p.Gly26311=) c.106128G>C (p.Gly35376=) c.101205G>C (p.Gly33735=) n.446+6851C>G n.220-5245C>G c.105225G>C (p.Gly35075=) c.79119G>C (p.Gly26373=) c.78978G>C (p.Gly26326=) c.105021G>C (p.Gly35007=) c.100419G>C (p.Gly33473=) c.100416G>C (p.Gly33472=) c.97458G>C (p.Gly32486=) c.79074G>C (p.Gly26358=) c.100569G>C (p.Gly33523=) c.100566G>C (p.Gly33522=) c.99999G>C (p.Gly33333=) c.97341G>C (p.Gly32447=) c.97260G>C (p.Gly32420=) c.79023G>C (p.Gly26341=) c.68877G>C (p.Gly22959=) | |
2 | g.178530487C>T | CA430235077 | TTN,TTN-AS1 | c.98424G>A (p.Gly32808=) c.79509G>A (p.Gly26503=) c.79308G>A (p.Gly26436=) c.78933G>A (p.Gly26311=) c.106128G>A (p.Gly35376=) c.101205G>A (p.Gly33735=) n.446+6851C>T n.220-5245C>T c.105225G>A (p.Gly35075=) c.79119G>A (p.Gly26373=) c.78978G>A (p.Gly26326=) c.105021G>A (p.Gly35007=) c.100419G>A (p.Gly33473=) c.100416G>A (p.Gly33472=) c.97458G>A (p.Gly32486=) c.79074G>A (p.Gly26358=) c.100569G>A (p.Gly33523=) c.100566G>A (p.Gly33522=) c.99999G>A (p.Gly33333=) c.97341G>A (p.Gly32447=) c.97260G>A (p.Gly32420=) c.79023G>A (p.Gly26341=) c.68877G>A (p.Gly22959=) | |
2 | g.178530487_178530488insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG | CA2573051719 | TTN,TTN-AS1 | c.98423_98424insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32809ThrfsTer10) c.79508_79509insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26504ThrfsTer10) c.79307_79308insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26437ThrfsTer10) c.78932_78933insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26312ThrfsTer10) c.106127_106128insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35377ThrfsTer10) c.101204_101205insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33736ThrfsTer10) n.446+6851_446+6852insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG n.220-5245_220-5244insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG c.105224_105225insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35076ThrfsTer10) c.79118_79119insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26374ThrfsTer10) c.78977_78978insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26327ThrfsTer10) c.105020_105021insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35008ThrfsTer10) c.100418_100419insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33474ThrfsTer10) c.100415_100416insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33473ThrfsTer10) c.97457_97458insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32487ThrfsTer10) c.79073_79074insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26359ThrfsTer10) c.100568_100569insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33524ThrfsTer10) c.100565_100566insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33523ThrfsTer10) c.99998_99999insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33334ThrfsTer10) c.97340_97341insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32448ThrfsTer10) c.97259_97260insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32421ThrfsTer10) c.79022_79023insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26342ThrfsTer10) c.68876_68877insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln22960ThrfsTer10) | dbSNP |
2 | g.178530488C>A | CA349406973 | TTN,TTN-AS1 | c.98423G>T (p.Gly32808Val) c.79508G>T (p.Gly26503Val) c.79307G>T (p.Gly26436Val) c.78932G>T (p.Gly26311Val) c.106127G>T (p.Gly35376Val) c.101204G>T (p.Gly33735Val) n.446+6852C>A n.220-5244C>A c.105224G>T (p.Gly35075Val) c.79118G>T (p.Gly26373Val) c.78977G>T (p.Gly26326Val) c.105020G>T (p.Gly35007Val) c.100418G>T (p.Gly33473Val) c.100415G>T (p.Gly33472Val) c.97457G>T (p.Gly32486Val) c.79073G>T (p.Gly26358Val) c.100568G>T (p.Gly33523Val) c.100565G>T (p.Gly33522Val) c.99998G>T (p.Gly33333Val) c.97340G>T (p.Gly32447Val) c.97259G>T (p.Gly32420Val) c.79022G>T (p.Gly26341Val) c.68876G>T (p.Gly22959Val) | ClinVar |
2 | g.178530488C= | CA1310514680 | TTN,TTN-AS1 | c.98423G= (p.Gly32808=) c.79508G= (p.Gly26503=) c.79307G= (p.Gly26436=) c.78932G= (p.Gly26311=) c.106127G= (p.Gly35376=) c.101204G= (p.Gly33735=) n.446+6852C= n.220-5244C= c.105224G= (p.Gly35075=) c.79118G= (p.Gly26373=) c.78977G= (p.Gly26326=) c.105020G= (p.Gly35007=) c.100418G= (p.Gly33473=) c.100415G= (p.Gly33472=) c.97457G= (p.Gly32486=) c.79073G= (p.Gly26358=) c.100568G= (p.Gly33523=) c.100565G= (p.Gly33522=) c.99998G= (p.Gly33333=) c.97340G= (p.Gly32447=) c.97259G= (p.Gly32420=) c.79022G= (p.Gly26341=) c.68876G= (p.Gly22959=) | |
2 | g.178530488C>G | CA1985162 | TTN,TTN-AS1 | c.98423G>C (p.Gly32808Ala) c.79508G>C (p.Gly26503Ala) c.79307G>C (p.Gly26436Ala) c.78932G>C (p.Gly26311Ala) c.106127G>C (p.Gly35376Ala) c.101204G>C (p.Gly33735Ala) n.446+6852C>G n.220-5244C>G c.105224G>C (p.Gly35075Ala) c.79118G>C (p.Gly26373Ala) c.78977G>C (p.Gly26326Ala) c.105020G>C (p.Gly35007Ala) c.100418G>C (p.Gly33473Ala) c.100415G>C (p.Gly33472Ala) c.97457G>C (p.Gly32486Ala) c.79073G>C (p.Gly26358Ala) c.100568G>C (p.Gly33523Ala) c.100565G>C (p.Gly33522Ala) c.99998G>C (p.Gly33333Ala) c.97340G>C (p.Gly32447Ala) c.97259G>C (p.Gly32420Ala) c.79022G>C (p.Gly26341Ala) c.68876G>C (p.Gly22959Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530488C>T | CA349406974 | TTN,TTN-AS1 | c.98423G>A (p.Gly32808Glu) c.79508G>A (p.Gly26503Glu) c.79307G>A (p.Gly26436Glu) c.78932G>A (p.Gly26311Glu) c.106127G>A (p.Gly35376Glu) c.101204G>A (p.Gly33735Glu) n.446+6852C>T n.220-5244C>T c.105224G>A (p.Gly35075Glu) c.79118G>A (p.Gly26373Glu) c.78977G>A (p.Gly26326Glu) c.105020G>A (p.Gly35007Glu) c.100418G>A (p.Gly33473Glu) c.100415G>A (p.Gly33472Glu) c.97457G>A (p.Gly32486Glu) c.79073G>A (p.Gly26358Glu) c.100568G>A (p.Gly33523Glu) c.100565G>A (p.Gly33522Glu) c.99998G>A (p.Gly33333Glu) c.97340G>A (p.Gly32447Glu) c.97259G>A (p.Gly32420Glu) c.79022G>A (p.Gly26341Glu) c.68876G>A (p.Gly22959Glu) | |
2 | g.178530489C>A | CA349406977 | TTN,TTN-AS1 | c.98422G>T (p.Gly32808Trp) c.79507G>T (p.Gly26503Trp) c.79306G>T (p.Gly26436Trp) c.78931G>T (p.Gly26311Trp) c.106126G>T (p.Gly35376Trp) c.101203G>T (p.Gly33735Trp) n.446+6853C>A n.220-5243C>A c.105223G>T (p.Gly35075Trp) c.79117G>T (p.Gly26373Trp) c.78976G>T (p.Gly26326Trp) c.105019G>T (p.Gly35007Trp) c.100417G>T (p.Gly33473Trp) c.100414G>T (p.Gly33472Trp) c.97456G>T (p.Gly32486Trp) c.79072G>T (p.Gly26358Trp) c.100567G>T (p.Gly33523Trp) c.100564G>T (p.Gly33522Trp) c.99997G>T (p.Gly33333Trp) c.97339G>T (p.Gly32447Trp) c.97258G>T (p.Gly32420Trp) c.79021G>T (p.Gly26341Trp) c.68875G>T (p.Gly22959Trp) | |
2 | g.178530489C= | CA1310514682 | TTN,TTN-AS1 | c.98422G= (p.Gly32808=) c.79507G= (p.Gly26503=) c.79306G= (p.Gly26436=) c.78931G= (p.Gly26311=) c.106126G= (p.Gly35376=) c.101203G= (p.Gly33735=) n.446+6853C= n.220-5243C= c.105223G= (p.Gly35075=) c.79117G= (p.Gly26373=) c.78976G= (p.Gly26326=) c.105019G= (p.Gly35007=) c.100417G= (p.Gly33473=) c.100414G= (p.Gly33472=) c.97456G= (p.Gly32486=) c.79072G= (p.Gly26358=) c.100567G= (p.Gly33523=) c.100564G= (p.Gly33522=) c.99997G= (p.Gly33333=) c.97339G= (p.Gly32447=) c.97258G= (p.Gly32420=) c.79021G= (p.Gly26341=) c.68875G= (p.Gly22959=) | |
2 | g.178530489C>G | CA349406976 | TTN,TTN-AS1 | c.98422G>C (p.Gly32808Arg) c.79507G>C (p.Gly26503Arg) c.79306G>C (p.Gly26436Arg) c.78931G>C (p.Gly26311Arg) c.106126G>C (p.Gly35376Arg) c.101203G>C (p.Gly33735Arg) n.446+6853C>G n.220-5243C>G c.105223G>C (p.Gly35075Arg) c.79117G>C (p.Gly26373Arg) c.78976G>C (p.Gly26326Arg) c.105019G>C (p.Gly35007Arg) c.100417G>C (p.Gly33473Arg) c.100414G>C (p.Gly33472Arg) c.97456G>C (p.Gly32486Arg) c.79072G>C (p.Gly26358Arg) c.100567G>C (p.Gly33523Arg) c.100564G>C (p.Gly33522Arg) c.99997G>C (p.Gly33333Arg) c.97339G>C (p.Gly32447Arg) c.97258G>C (p.Gly32420Arg) c.79021G>C (p.Gly26341Arg) c.68875G>C (p.Gly22959Arg) | |
2 | g.178530489C>T | CA349406975 | TTN,TTN-AS1 | c.98422G>A (p.Gly32808Arg) c.79507G>A (p.Gly26503Arg) c.79306G>A (p.Gly26436Arg) c.78931G>A (p.Gly26311Arg) c.106126G>A (p.Gly35376Arg) c.101203G>A (p.Gly33735Arg) n.446+6853C>T n.220-5243C>T c.105223G>A (p.Gly35075Arg) c.79117G>A (p.Gly26373Arg) c.78976G>A (p.Gly26326Arg) c.105019G>A (p.Gly35007Arg) c.100417G>A (p.Gly33473Arg) c.100414G>A (p.Gly33472Arg) c.97456G>A (p.Gly32486Arg) c.79072G>A (p.Gly26358Arg) c.100567G>A (p.Gly33523Arg) c.100564G>A (p.Gly33522Arg) c.99997G>A (p.Gly33333Arg) c.97339G>A (p.Gly32447Arg) c.97258G>A (p.Gly32420Arg) c.79021G>A (p.Gly26341Arg) c.68875G>A (p.Gly22959Arg) | ClinVar dbSNP |
2 | g.178530490C>A | CA349406978 | TTN,TTN-AS1 | c.98421G>T (p.Met32807Ile) c.79506G>T (p.Met26502Ile) c.79305G>T (p.Met26435Ile) c.78930G>T (p.Met26310Ile) c.106125G>T (p.Met35375Ile) c.101202G>T (p.Met33734Ile) n.446+6854C>A n.220-5242C>A c.105222G>T (p.Met35074Ile) c.79116G>T (p.Met26372Ile) c.78975G>T (p.Met26325Ile) c.105018G>T (p.Met35006Ile) c.100416G>T (p.Met33472Ile) c.100413G>T (p.Met33471Ile) c.97455G>T (p.Met32485Ile) c.79071G>T (p.Met26357Ile) c.100566G>T (p.Met33522Ile) c.100563G>T (p.Met33521Ile) c.99996G>T (p.Met33332Ile) c.97338G>T (p.Met32446Ile) c.97257G>T (p.Met32419Ile) c.79020G>T (p.Met26340Ile) c.68874G>T (p.Met22958Ile) | |
2 | g.178530490C>G | CA349406979 | TTN,TTN-AS1 | c.98421G>C (p.Met32807Ile) c.79506G>C (p.Met26502Ile) c.79305G>C (p.Met26435Ile) c.78930G>C (p.Met26310Ile) c.106125G>C (p.Met35375Ile) c.101202G>C (p.Met33734Ile) n.446+6854C>G n.220-5242C>G c.105222G>C (p.Met35074Ile) c.79116G>C (p.Met26372Ile) c.78975G>C (p.Met26325Ile) c.105018G>C (p.Met35006Ile) c.100416G>C (p.Met33472Ile) c.100413G>C (p.Met33471Ile) c.97455G>C (p.Met32485Ile) c.79071G>C (p.Met26357Ile) c.100566G>C (p.Met33522Ile) c.100563G>C (p.Met33521Ile) c.99996G>C (p.Met33332Ile) c.97338G>C (p.Met32446Ile) c.97257G>C (p.Met32419Ile) c.79020G>C (p.Met26340Ile) c.68874G>C (p.Met22958Ile) | |
2 | g.178530490C>T | CA349406980 | TTN,TTN-AS1 | c.98421G>A (p.Met32807Ile) c.79506G>A (p.Met26502Ile) c.79305G>A (p.Met26435Ile) c.78930G>A (p.Met26310Ile) c.106125G>A (p.Met35375Ile) c.101202G>A (p.Met33734Ile) n.446+6854C>T n.220-5242C>T c.105222G>A (p.Met35074Ile) c.79116G>A (p.Met26372Ile) c.78975G>A (p.Met26325Ile) c.105018G>A (p.Met35006Ile) c.100416G>A (p.Met33472Ile) c.100413G>A (p.Met33471Ile) c.97455G>A (p.Met32485Ile) c.79071G>A (p.Met26357Ile) c.100566G>A (p.Met33522Ile) c.100563G>A (p.Met33521Ile) c.99996G>A (p.Met33332Ile) c.97338G>A (p.Met32446Ile) c.97257G>A (p.Met32419Ile) c.79020G>A (p.Met26340Ile) c.68874G>A (p.Met22958Ile) | gnomAD v4 |
2 | g.178530491A= | CA1310514683 | TTN,TTN-AS1 | c.98420T= (p.Met32807=) c.79505T= (p.Met26502=) c.79304T= (p.Met26435=) c.78929T= (p.Met26310=) c.106124T= (p.Met35375=) c.101201T= (p.Met33734=) n.446+6855A= n.220-5241A= c.105221T= (p.Met35074=) c.79115T= (p.Met26372=) c.78974T= (p.Met26325=) c.105017T= (p.Met35006=) c.100415T= (p.Met33472=) c.100412T= (p.Met33471=) c.97454T= (p.Met32485=) c.79070T= (p.Met26357=) c.100565T= (p.Met33522=) c.100562T= (p.Met33521=) c.99995T= (p.Met33332=) c.97337T= (p.Met32446=) c.97256T= (p.Met32419=) c.79019T= (p.Met26340=) c.68873T= (p.Met22958=) | |
2 | g.178530491A>C | CA349406981 | TTN,TTN-AS1 | c.98420T>G (p.Met32807Arg) c.79505T>G (p.Met26502Arg) c.79304T>G (p.Met26435Arg) c.78929T>G (p.Met26310Arg) c.106124T>G (p.Met35375Arg) c.101201T>G (p.Met33734Arg) n.446+6855A>C n.220-5241A>C c.105221T>G (p.Met35074Arg) c.79115T>G (p.Met26372Arg) c.78974T>G (p.Met26325Arg) c.105017T>G (p.Met35006Arg) c.100415T>G (p.Met33472Arg) c.100412T>G (p.Met33471Arg) c.97454T>G (p.Met32485Arg) c.79070T>G (p.Met26357Arg) c.100565T>G (p.Met33522Arg) c.100562T>G (p.Met33521Arg) c.99995T>G (p.Met33332Arg) c.97337T>G (p.Met32446Arg) c.97256T>G (p.Met32419Arg) c.79019T>G (p.Met26340Arg) c.68873T>G (p.Met22958Arg) | dbSNP gnomAD v2 |
2 | g.178530491A>G | CA349406982 | TTN,TTN-AS1 | c.98420T>C (p.Met32807Thr) c.79505T>C (p.Met26502Thr) c.79304T>C (p.Met26435Thr) c.78929T>C (p.Met26310Thr) c.106124T>C (p.Met35375Thr) c.101201T>C (p.Met33734Thr) n.446+6855A>G n.220-5241A>G c.105221T>C (p.Met35074Thr) c.79115T>C (p.Met26372Thr) c.78974T>C (p.Met26325Thr) c.105017T>C (p.Met35006Thr) c.100415T>C (p.Met33472Thr) c.100412T>C (p.Met33471Thr) c.97454T>C (p.Met32485Thr) c.79070T>C (p.Met26357Thr) c.100565T>C (p.Met33522Thr) c.100562T>C (p.Met33521Thr) c.99995T>C (p.Met33332Thr) c.97337T>C (p.Met32446Thr) c.97256T>C (p.Met32419Thr) c.79019T>C (p.Met26340Thr) c.68873T>C (p.Met22958Thr) | gnomAD v4 |
2 | g.178530491A>T | CA349406983 | TTN,TTN-AS1 | c.98420T>A (p.Met32807Lys) c.79505T>A (p.Met26502Lys) c.79304T>A (p.Met26435Lys) c.78929T>A (p.Met26310Lys) c.106124T>A (p.Met35375Lys) c.101201T>A (p.Met33734Lys) n.446+6855A>T n.220-5241A>T c.105221T>A (p.Met35074Lys) c.79115T>A (p.Met26372Lys) c.78974T>A (p.Met26325Lys) c.105017T>A (p.Met35006Lys) c.100415T>A (p.Met33472Lys) c.100412T>A (p.Met33471Lys) c.97454T>A (p.Met32485Lys) c.79070T>A (p.Met26357Lys) c.100565T>A (p.Met33522Lys) c.100562T>A (p.Met33521Lys) c.99995T>A (p.Met33332Lys) c.97337T>A (p.Met32446Lys) c.97256T>A (p.Met32419Lys) c.79019T>A (p.Met26340Lys) c.68873T>A (p.Met22958Lys) | |
2 | g.178530492T>A | CA349406986 | TTN,TTN-AS1 | c.98419A>T (p.Met32807Leu) c.79504A>T (p.Met26502Leu) c.79303A>T (p.Met26435Leu) c.78928A>T (p.Met26310Leu) c.106123A>T (p.Met35375Leu) c.101200A>T (p.Met33734Leu) n.446+6856T>A n.220-5240T>A c.105220A>T (p.Met35074Leu) c.79114A>T (p.Met26372Leu) c.78973A>T (p.Met26325Leu) c.105016A>T (p.Met35006Leu) c.100414A>T (p.Met33472Leu) c.100411A>T (p.Met33471Leu) c.97453A>T (p.Met32485Leu) c.79069A>T (p.Met26357Leu) c.100564A>T (p.Met33522Leu) c.100561A>T (p.Met33521Leu) c.99994A>T (p.Met33332Leu) c.97336A>T (p.Met32446Leu) c.97255A>T (p.Met32419Leu) c.79018A>T (p.Met26340Leu) c.68872A>T (p.Met22958Leu) | |
2 | g.178530492T>C | CA349406985 | TTN,TTN-AS1 | c.98419A>G (p.Met32807Val) c.79504A>G (p.Met26502Val) c.79303A>G (p.Met26435Val) c.78928A>G (p.Met26310Val) c.106123A>G (p.Met35375Val) c.101200A>G (p.Met33734Val) n.446+6856T>C n.220-5240T>C c.105220A>G (p.Met35074Val) c.79114A>G (p.Met26372Val) c.78973A>G (p.Met26325Val) c.105016A>G (p.Met35006Val) c.100414A>G (p.Met33472Val) c.100411A>G (p.Met33471Val) c.97453A>G (p.Met32485Val) c.79069A>G (p.Met26357Val) c.100564A>G (p.Met33522Val) c.100561A>G (p.Met33521Val) c.99994A>G (p.Met33332Val) c.97336A>G (p.Met32446Val) c.97255A>G (p.Met32419Val) c.79018A>G (p.Met26340Val) c.68872A>G (p.Met22958Val) | gnomAD v4 |
2 | g.178530492T>G | CA349406984 | TTN,TTN-AS1 | c.98419A>C (p.Met32807Leu) c.79504A>C (p.Met26502Leu) c.79303A>C (p.Met26435Leu) c.78928A>C (p.Met26310Leu) c.106123A>C (p.Met35375Leu) c.101200A>C (p.Met33734Leu) n.446+6856T>G n.220-5240T>G c.105220A>C (p.Met35074Leu) c.79114A>C (p.Met26372Leu) c.78973A>C (p.Met26325Leu) c.105016A>C (p.Met35006Leu) c.100414A>C (p.Met33472Leu) c.100411A>C (p.Met33471Leu) c.97453A>C (p.Met32485Leu) c.79069A>C (p.Met26357Leu) c.100564A>C (p.Met33522Leu) c.100561A>C (p.Met33521Leu) c.99994A>C (p.Met33332Leu) c.97336A>C (p.Met32446Leu) c.97255A>C (p.Met32419Leu) c.79018A>C (p.Met26340Leu) c.68872A>C (p.Met22958Leu) | |
2 | g.178530493A>C | CA349406987 | TTN,TTN-AS1 | c.98418T>G (p.Phe32806Leu) c.79503T>G (p.Phe26501Leu) c.79302T>G (p.Phe26434Leu) c.78927T>G (p.Phe26309Leu) c.106122T>G (p.Phe35374Leu) c.101199T>G (p.Phe33733Leu) n.446+6857A>C n.220-5239A>C c.105219T>G (p.Phe35073Leu) c.79113T>G (p.Phe26371Leu) c.78972T>G (p.Phe26324Leu) c.105015T>G (p.Phe35005Leu) c.100413T>G (p.Phe33471Leu) c.100410T>G (p.Phe33470Leu) c.97452T>G (p.Phe32484Leu) c.79068T>G (p.Phe26356Leu) c.100563T>G (p.Phe33521Leu) c.100560T>G (p.Phe33520Leu) c.99993T>G (p.Phe33331Leu) c.97335T>G (p.Phe32445Leu) c.97254T>G (p.Phe32418Leu) c.79017T>G (p.Phe26339Leu) c.68871T>G (p.Phe22957Leu) | |
2 | g.178530493A>G | CA430235084 | TTN,TTN-AS1 | c.98418T>C (p.Phe32806=) c.79503T>C (p.Phe26501=) c.79302T>C (p.Phe26434=) c.78927T>C (p.Phe26309=) c.106122T>C (p.Phe35374=) c.101199T>C (p.Phe33733=) n.446+6857A>G n.220-5239A>G c.105219T>C (p.Phe35073=) c.79113T>C (p.Phe26371=) c.78972T>C (p.Phe26324=) c.105015T>C (p.Phe35005=) c.100413T>C (p.Phe33471=) c.100410T>C (p.Phe33470=) c.97452T>C (p.Phe32484=) c.79068T>C (p.Phe26356=) c.100563T>C (p.Phe33521=) c.100560T>C (p.Phe33520=) c.99993T>C (p.Phe33331=) c.97335T>C (p.Phe32445=) c.97254T>C (p.Phe32418=) c.79017T>C (p.Phe26339=) c.68871T>C (p.Phe22957=) | gnomAD v4 |
2 | g.178530493A>T | CA349406988 | TTN,TTN-AS1 | c.98418T>A (p.Phe32806Leu) c.79503T>A (p.Phe26501Leu) c.79302T>A (p.Phe26434Leu) c.78927T>A (p.Phe26309Leu) c.106122T>A (p.Phe35374Leu) c.101199T>A (p.Phe33733Leu) n.446+6857A>T n.220-5239A>T c.105219T>A (p.Phe35073Leu) c.79113T>A (p.Phe26371Leu) c.78972T>A (p.Phe26324Leu) c.105015T>A (p.Phe35005Leu) c.100413T>A (p.Phe33471Leu) c.100410T>A (p.Phe33470Leu) c.97452T>A (p.Phe32484Leu) c.79068T>A (p.Phe26356Leu) c.100563T>A (p.Phe33521Leu) c.100560T>A (p.Phe33520Leu) c.99993T>A (p.Phe33331Leu) c.97335T>A (p.Phe32445Leu) c.97254T>A (p.Phe32418Leu) c.79017T>A (p.Phe26339Leu) c.68871T>A (p.Phe22957Leu) | |
2 | g.178530494A= | CA1310514685 | TTN,TTN-AS1 | c.98417T= (p.Phe32806=) c.79502T= (p.Phe26501=) c.79301T= (p.Phe26434=) c.78926T= (p.Phe26309=) c.106121T= (p.Phe35374=) c.101198T= (p.Phe33733=) n.446+6858A= n.220-5238A= c.105218T= (p.Phe35073=) c.79112T= (p.Phe26371=) c.78971T= (p.Phe26324=) c.105014T= (p.Phe35005=) c.100412T= (p.Phe33471=) c.100409T= (p.Phe33470=) c.97451T= (p.Phe32484=) c.79067T= (p.Phe26356=) c.100562T= (p.Phe33521=) c.100559T= (p.Phe33520=) c.99992T= (p.Phe33331=) c.97334T= (p.Phe32445=) c.97253T= (p.Phe32418=) c.79016T= (p.Phe26339=) c.68870T= (p.Phe22957=) | |
2 | g.178530494A>C | CA349406989 | TTN,TTN-AS1 | c.98417T>G (p.Phe32806Cys) c.79502T>G (p.Phe26501Cys) c.79301T>G (p.Phe26434Cys) c.78926T>G (p.Phe26309Cys) c.106121T>G (p.Phe35374Cys) c.101198T>G (p.Phe33733Cys) n.446+6858A>C n.220-5238A>C c.105218T>G (p.Phe35073Cys) c.79112T>G (p.Phe26371Cys) c.78971T>G (p.Phe26324Cys) c.105014T>G (p.Phe35005Cys) c.100412T>G (p.Phe33471Cys) c.100409T>G (p.Phe33470Cys) c.97451T>G (p.Phe32484Cys) c.79067T>G (p.Phe26356Cys) c.100562T>G (p.Phe33521Cys) c.100559T>G (p.Phe33520Cys) c.99992T>G (p.Phe33331Cys) c.97334T>G (p.Phe32445Cys) c.97253T>G (p.Phe32418Cys) c.79016T>G (p.Phe26339Cys) c.68870T>G (p.Phe22957Cys) | |
2 | g.178530494A>G | CA349406990 | TTN,TTN-AS1 | c.98417T>C (p.Phe32806Ser) c.79502T>C (p.Phe26501Ser) c.79301T>C (p.Phe26434Ser) c.78926T>C (p.Phe26309Ser) c.106121T>C (p.Phe35374Ser) c.101198T>C (p.Phe33733Ser) n.446+6858A>G n.220-5238A>G c.105218T>C (p.Phe35073Ser) c.79112T>C (p.Phe26371Ser) c.78971T>C (p.Phe26324Ser) c.105014T>C (p.Phe35005Ser) c.100412T>C (p.Phe33471Ser) c.100409T>C (p.Phe33470Ser) c.97451T>C (p.Phe32484Ser) c.79067T>C (p.Phe26356Ser) c.100562T>C (p.Phe33521Ser) c.100559T>C (p.Phe33520Ser) c.99992T>C (p.Phe33331Ser) c.97334T>C (p.Phe32445Ser) c.97253T>C (p.Phe32418Ser) c.79016T>C (p.Phe26339Ser) c.68870T>C (p.Phe22957Ser) | |
2 | g.178530494A>T | CA183679 | TTN,TTN-AS1 | c.98417T>A (p.Phe32806Tyr) c.79502T>A (p.Phe26501Tyr) c.79301T>A (p.Phe26434Tyr) c.78926T>A (p.Phe26309Tyr) c.106121T>A (p.Phe35374Tyr) c.101198T>A (p.Phe33733Tyr) n.446+6858A>T n.220-5238A>T c.105218T>A (p.Phe35073Tyr) c.79112T>A (p.Phe26371Tyr) c.78971T>A (p.Phe26324Tyr) c.105014T>A (p.Phe35005Tyr) c.100412T>A (p.Phe33471Tyr) c.100409T>A (p.Phe33470Tyr) c.97451T>A (p.Phe32484Tyr) c.79067T>A (p.Phe26356Tyr) c.100562T>A (p.Phe33521Tyr) c.100559T>A (p.Phe33520Tyr) c.99992T>A (p.Phe33331Tyr) c.97334T>A (p.Phe32445Tyr) c.97253T>A (p.Phe32418Tyr) c.79016T>A (p.Phe26339Tyr) c.68870T>A (p.Phe22957Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530495A= | CA1310514687 | TTN,TTN-AS1 | c.98416T= (p.Phe32806=) c.79501T= (p.Phe26501=) c.79300T= (p.Phe26434=) c.78925T= (p.Phe26309=) c.106120T= (p.Phe35374=) c.101197T= (p.Phe33733=) n.446+6859A= n.220-5237A= c.105217T= (p.Phe35073=) c.79111T= (p.Phe26371=) c.78970T= (p.Phe26324=) c.105013T= (p.Phe35005=) c.100411T= (p.Phe33471=) c.100408T= (p.Phe33470=) c.97450T= (p.Phe32484=) c.79066T= (p.Phe26356=) c.100561T= (p.Phe33521=) c.100558T= (p.Phe33520=) c.99991T= (p.Phe33331=) c.97333T= (p.Phe32445=) c.97252T= (p.Phe32418=) c.79015T= (p.Phe26339=) c.68869T= (p.Phe22957=) | |
2 | g.178530495A>C | CA349406991 | TTN,TTN-AS1 | c.98416T>G (p.Phe32806Val) c.79501T>G (p.Phe26501Val) c.79300T>G (p.Phe26434Val) c.78925T>G (p.Phe26309Val) c.106120T>G (p.Phe35374Val) c.101197T>G (p.Phe33733Val) n.446+6859A>C n.220-5237A>C c.105217T>G (p.Phe35073Val) c.79111T>G (p.Phe26371Val) c.78970T>G (p.Phe26324Val) c.105013T>G (p.Phe35005Val) c.100411T>G (p.Phe33471Val) c.100408T>G (p.Phe33470Val) c.97450T>G (p.Phe32484Val) c.79066T>G (p.Phe26356Val) c.100561T>G (p.Phe33521Val) c.100558T>G (p.Phe33520Val) c.99991T>G (p.Phe33331Val) c.97333T>G (p.Phe32445Val) c.97252T>G (p.Phe32418Val) c.79015T>G (p.Phe26339Val) c.68869T>G (p.Phe22957Val) | |
2 | g.178530495A>G | CA349406992 | TTN,TTN-AS1 | c.98416T>C (p.Phe32806Leu) c.79501T>C (p.Phe26501Leu) c.79300T>C (p.Phe26434Leu) c.78925T>C (p.Phe26309Leu) c.106120T>C (p.Phe35374Leu) c.101197T>C (p.Phe33733Leu) n.446+6859A>G n.220-5237A>G c.105217T>C (p.Phe35073Leu) c.79111T>C (p.Phe26371Leu) c.78970T>C (p.Phe26324Leu) c.105013T>C (p.Phe35005Leu) c.100411T>C (p.Phe33471Leu) c.100408T>C (p.Phe33470Leu) c.97450T>C (p.Phe32484Leu) c.79066T>C (p.Phe26356Leu) c.100561T>C (p.Phe33521Leu) c.100558T>C (p.Phe33520Leu) c.99991T>C (p.Phe33331Leu) c.97333T>C (p.Phe32445Leu) c.97252T>C (p.Phe32418Leu) c.79015T>C (p.Phe26339Leu) c.68869T>C (p.Phe22957Leu) | |
2 | g.178530495A>T | CA238441 | TTN,TTN-AS1 | c.98416T>A (p.Phe32806Ile) c.79501T>A (p.Phe26501Ile) c.79300T>A (p.Phe26434Ile) c.78925T>A (p.Phe26309Ile) c.106120T>A (p.Phe35374Ile) c.101197T>A (p.Phe33733Ile) n.446+6859A>T n.220-5237A>T c.105217T>A (p.Phe35073Ile) c.79111T>A (p.Phe26371Ile) c.78970T>A (p.Phe26324Ile) c.105013T>A (p.Phe35005Ile) c.100411T>A (p.Phe33471Ile) c.100408T>A (p.Phe33470Ile) c.97450T>A (p.Phe32484Ile) c.79066T>A (p.Phe26356Ile) c.100561T>A (p.Phe33521Ile) c.100558T>A (p.Phe33520Ile) c.99991T>A (p.Phe33331Ile) c.97333T>A (p.Phe32445Ile) c.97252T>A (p.Phe32418Ile) c.79015T>A (p.Phe26339Ile) c.68869T>A (p.Phe22957Ile) | ClinVar dbSNP |
2 | g.178530496T>A | CA349406993 | TTN,TTN-AS1 | c.98415A>T (p.Gln32805His) c.79500A>T (p.Gln26500His) c.79299A>T (p.Gln26433His) c.78924A>T (p.Gln26308His) c.106119A>T (p.Gln35373His) c.101196A>T (p.Gln33732His) n.446+6860T>A n.220-5236T>A c.105216A>T (p.Gln35072His) c.79110A>T (p.Gln26370His) c.78969A>T (p.Gln26323His) c.105012A>T (p.Gln35004His) c.100410A>T (p.Gln33470His) c.100407A>T (p.Gln33469His) c.97449A>T (p.Gln32483His) c.79065A>T (p.Gln26355His) c.100560A>T (p.Gln33520His) c.100557A>T (p.Gln33519His) c.99990A>T (p.Gln33330His) c.97332A>T (p.Gln32444His) c.97251A>T (p.Gln32417His) c.79014A>T (p.Gln26338His) c.68868A>T (p.Gln22956His) | |
2 | g.178530496T>C | CA430235089 | TTN,TTN-AS1 | c.98415A>G (p.Gln32805=) c.79500A>G (p.Gln26500=) c.79299A>G (p.Gln26433=) c.78924A>G (p.Gln26308=) c.106119A>G (p.Gln35373=) c.101196A>G (p.Gln33732=) n.446+6860T>C n.220-5236T>C c.105216A>G (p.Gln35072=) c.79110A>G (p.Gln26370=) c.78969A>G (p.Gln26323=) c.105012A>G (p.Gln35004=) c.100410A>G (p.Gln33470=) c.100407A>G (p.Gln33469=) c.97449A>G (p.Gln32483=) c.79065A>G (p.Gln26355=) c.100560A>G (p.Gln33520=) c.100557A>G (p.Gln33519=) c.99990A>G (p.Gln33330=) c.97332A>G (p.Gln32444=) c.97251A>G (p.Gln32417=) c.79014A>G (p.Gln26338=) c.68868A>G (p.Gln22956=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530496T>G | CA349406994 | TTN,TTN-AS1 | c.98415A>C (p.Gln32805His) c.79500A>C (p.Gln26500His) c.79299A>C (p.Gln26433His) c.78924A>C (p.Gln26308His) c.106119A>C (p.Gln35373His) c.101196A>C (p.Gln33732His) n.446+6860T>G n.220-5236T>G c.105216A>C (p.Gln35072His) c.79110A>C (p.Gln26370His) c.78969A>C (p.Gln26323His) c.105012A>C (p.Gln35004His) c.100410A>C (p.Gln33470His) c.100407A>C (p.Gln33469His) c.97449A>C (p.Gln32483His) c.79065A>C (p.Gln26355His) c.100560A>C (p.Gln33520His) c.100557A>C (p.Gln33519His) c.99990A>C (p.Gln33330His) c.97332A>C (p.Gln32444His) c.97251A>C (p.Gln32417His) c.79014A>C (p.Gln26338His) c.68868A>C (p.Gln22956His) | |
2 | g.178530496T= | CA1310514689 | TTN,TTN-AS1 | c.98415A= (p.Gln32805=) c.79500A= (p.Gln26500=) c.79299A= (p.Gln26433=) c.78924A= (p.Gln26308=) c.106119A= (p.Gln35373=) c.101196A= (p.Gln33732=) n.446+6860T= n.220-5236T= c.105216A= (p.Gln35072=) c.79110A= (p.Gln26370=) c.78969A= (p.Gln26323=) c.105012A= (p.Gln35004=) c.100410A= (p.Gln33470=) c.100407A= (p.Gln33469=) c.97449A= (p.Gln32483=) c.79065A= (p.Gln26355=) c.100560A= (p.Gln33520=) c.100557A= (p.Gln33519=) c.99990A= (p.Gln33330=) c.97332A= (p.Gln32444=) c.97251A= (p.Gln32417=) c.79014A= (p.Gln26338=) c.68868A= (p.Gln22956=) | |
2 | g.178530497T>A | CA349406995 | TTN,TTN-AS1 | c.98414A>T (p.Gln32805Leu) c.79499A>T (p.Gln26500Leu) c.79298A>T (p.Gln26433Leu) c.78923A>T (p.Gln26308Leu) c.106118A>T (p.Gln35373Leu) c.101195A>T (p.Gln33732Leu) n.446+6861T>A n.220-5235T>A c.105215A>T (p.Gln35072Leu) c.79109A>T (p.Gln26370Leu) c.78968A>T (p.Gln26323Leu) c.105011A>T (p.Gln35004Leu) c.100409A>T (p.Gln33470Leu) c.100406A>T (p.Gln33469Leu) c.97448A>T (p.Gln32483Leu) c.79064A>T (p.Gln26355Leu) c.100559A>T (p.Gln33520Leu) c.100556A>T (p.Gln33519Leu) c.99989A>T (p.Gln33330Leu) c.97331A>T (p.Gln32444Leu) c.97250A>T (p.Gln32417Leu) c.79013A>T (p.Gln26338Leu) c.68867A>T (p.Gln22956Leu) | |
2 | g.178530497T>C | CA349406996 | TTN,TTN-AS1 | c.98414A>G (p.Gln32805Arg) c.79499A>G (p.Gln26500Arg) c.79298A>G (p.Gln26433Arg) c.78923A>G (p.Gln26308Arg) c.106118A>G (p.Gln35373Arg) c.101195A>G (p.Gln33732Arg) n.446+6861T>C n.220-5235T>C c.105215A>G (p.Gln35072Arg) c.79109A>G (p.Gln26370Arg) c.78968A>G (p.Gln26323Arg) c.105011A>G (p.Gln35004Arg) c.100409A>G (p.Gln33470Arg) c.100406A>G (p.Gln33469Arg) c.97448A>G (p.Gln32483Arg) c.79064A>G (p.Gln26355Arg) c.100559A>G (p.Gln33520Arg) c.100556A>G (p.Gln33519Arg) c.99989A>G (p.Gln33330Arg) c.97331A>G (p.Gln32444Arg) c.97250A>G (p.Gln32417Arg) c.79013A>G (p.Gln26338Arg) c.68867A>G (p.Gln22956Arg) | |
2 | g.178530497T>G | CA349406997 | TTN,TTN-AS1 | c.98414A>C (p.Gln32805Pro) c.79499A>C (p.Gln26500Pro) c.79298A>C (p.Gln26433Pro) c.78923A>C (p.Gln26308Pro) c.106118A>C (p.Gln35373Pro) c.101195A>C (p.Gln33732Pro) n.446+6861T>G n.220-5235T>G c.105215A>C (p.Gln35072Pro) c.79109A>C (p.Gln26370Pro) c.78968A>C (p.Gln26323Pro) c.105011A>C (p.Gln35004Pro) c.100409A>C (p.Gln33470Pro) c.100406A>C (p.Gln33469Pro) c.97448A>C (p.Gln32483Pro) c.79064A>C (p.Gln26355Pro) c.100559A>C (p.Gln33520Pro) c.100556A>C (p.Gln33519Pro) c.99989A>C (p.Gln33330Pro) c.97331A>C (p.Gln32444Pro) c.97250A>C (p.Gln32417Pro) c.79013A>C (p.Gln26338Pro) c.68867A>C (p.Gln22956Pro) | |
2 | g.178530498G>A | CA349406998 | TTN,TTN-AS1 | c.98413C>T (p.Gln32805Ter) c.79498C>T (p.Gln26500Ter) c.79297C>T (p.Gln26433Ter) c.78922C>T (p.Gln26308Ter) c.106117C>T (p.Gln35373Ter) c.101194C>T (p.Gln33732Ter) n.446+6862G>A n.220-5234G>A c.105214C>T (p.Gln35072Ter) c.79108C>T (p.Gln26370Ter) c.78967C>T (p.Gln26323Ter) c.105010C>T (p.Gln35004Ter) c.100408C>T (p.Gln33470Ter) c.100405C>T (p.Gln33469Ter) c.97447C>T (p.Gln32483Ter) c.79063C>T (p.Gln26355Ter) c.100558C>T (p.Gln33520Ter) c.100555C>T (p.Gln33519Ter) c.99988C>T (p.Gln33330Ter) c.97330C>T (p.Gln32444Ter) c.97249C>T (p.Gln32417Ter) c.79012C>T (p.Gln26338Ter) c.68866C>T (p.Gln22956Ter) | ClinVar dbSNP |
2 | g.178530498G>C | CA349406999 | TTN,TTN-AS1 | c.98413C>G (p.Gln32805Glu) c.79498C>G (p.Gln26500Glu) c.79297C>G (p.Gln26433Glu) c.78922C>G (p.Gln26308Glu) c.106117C>G (p.Gln35373Glu) c.101194C>G (p.Gln33732Glu) n.446+6862G>C n.220-5234G>C c.105214C>G (p.Gln35072Glu) c.79108C>G (p.Gln26370Glu) c.78967C>G (p.Gln26323Glu) c.105010C>G (p.Gln35004Glu) c.100408C>G (p.Gln33470Glu) c.100405C>G (p.Gln33469Glu) c.97447C>G (p.Gln32483Glu) c.79063C>G (p.Gln26355Glu) c.100558C>G (p.Gln33520Glu) c.100555C>G (p.Gln33519Glu) c.99988C>G (p.Gln33330Glu) c.97330C>G (p.Gln32444Glu) c.97249C>G (p.Gln32417Glu) c.79012C>G (p.Gln26338Glu) c.68866C>G (p.Gln22956Glu) | |
2 | g.178530498G= | CA1310514691 | TTN,TTN-AS1 | c.98413C= (p.Gln32805=) c.79498C= (p.Gln26500=) c.79297C= (p.Gln26433=) c.78922C= (p.Gln26308=) c.106117C= (p.Gln35373=) c.101194C= (p.Gln33732=) n.446+6862G= n.220-5234G= c.105214C= (p.Gln35072=) c.79108C= (p.Gln26370=) c.78967C= (p.Gln26323=) c.105010C= (p.Gln35004=) c.100408C= (p.Gln33470=) c.100405C= (p.Gln33469=) c.97447C= (p.Gln32483=) c.79063C= (p.Gln26355=) c.100558C= (p.Gln33520=) c.100555C= (p.Gln33519=) c.99988C= (p.Gln33330=) c.97330C= (p.Gln32444=) c.97249C= (p.Gln32417=) c.79012C= (p.Gln26338=) c.68866C= (p.Gln22956=) | |
2 | g.178530498G>T | CA1985163 | TTN,TTN-AS1 | c.98413C>A (p.Gln32805Lys) c.79498C>A (p.Gln26500Lys) c.79297C>A (p.Gln26433Lys) c.78922C>A (p.Gln26308Lys) c.106117C>A (p.Gln35373Lys) c.101194C>A (p.Gln33732Lys) n.446+6862G>T n.220-5234G>T c.105214C>A (p.Gln35072Lys) c.79108C>A (p.Gln26370Lys) c.78967C>A (p.Gln26323Lys) c.105010C>A (p.Gln35004Lys) c.100408C>A (p.Gln33470Lys) c.100405C>A (p.Gln33469Lys) c.97447C>A (p.Gln32483Lys) c.79063C>A (p.Gln26355Lys) c.100558C>A (p.Gln33520Lys) c.100555C>A (p.Gln33519Lys) c.99988C>A (p.Gln33330Lys) c.97330C>A (p.Gln32444Lys) c.97249C>A (p.Gln32417Lys) c.79012C>A (p.Gln26338Lys) c.68866C>A (p.Gln22956Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530500_178530503dup | CA2753330763 | TTN,TTN-AS1 | c.98410_98413dup (p.Gln32805LeufsTer9) c.79495_79498dup (p.Gln26500LeufsTer9) c.79294_79297dup (p.Gln26433LeufsTer9) c.78919_78922dup (p.Gln26308LeufsTer9) c.106114_106117dup (p.Gln35373LeufsTer9) c.101191_101194dup (p.Gln33732LeufsTer9) n.446+6864_446+6867dup n.220-5232_220-5229dup c.105211_105214dup (p.Gln35072LeufsTer9) c.79105_79108dup (p.Gln26370LeufsTer9) c.78964_78967dup (p.Gln26323LeufsTer9) c.105007_105010dup (p.Gln35004LeufsTer9) c.100405_100408dup (p.Gln33470LeufsTer9) c.100402_100405dup (p.Gln33469LeufsTer9) c.97444_97447dup (p.Gln32483LeufsTer9) c.79060_79063dup (p.Gln26355LeufsTer9) c.100555_100558dup (p.Gln33520LeufsTer9) c.100552_100555dup (p.Gln33519LeufsTer9) c.99985_99988dup (p.Gln33330LeufsTer9) c.97327_97330dup (p.Gln32444LeufsTer9) c.97246_97249dup (p.Gln32417LeufsTer9) c.79009_79012dup (p.Gln26338LeufsTer9) c.68863_68866dup (p.Gln22956LeufsTer9) | |
2 | g.178530499T>A | CA349407000 | TTN,TTN-AS1 | c.98412A>T (p.Leu32804Phe) c.79497A>T (p.Leu26499Phe) c.79296A>T (p.Leu26432Phe) c.78921A>T (p.Leu26307Phe) c.106116A>T (p.Leu35372Phe) c.101193A>T (p.Leu33731Phe) n.446+6863T>A n.220-5233T>A c.105213A>T (p.Leu35071Phe) c.79107A>T (p.Leu26369Phe) c.78966A>T (p.Leu26322Phe) c.105009A>T (p.Leu35003Phe) c.100407A>T (p.Leu33469Phe) c.100404A>T (p.Leu33468Phe) c.97446A>T (p.Leu32482Phe) c.79062A>T (p.Leu26354Phe) c.100557A>T (p.Leu33519Phe) c.100554A>T (p.Leu33518Phe) c.99987A>T (p.Leu33329Phe) c.97329A>T (p.Leu32443Phe) c.97248A>T (p.Leu32416Phe) c.79011A>T (p.Leu26337Phe) c.68865A>T (p.Leu22955Phe) | |
2 | g.178530499T>C | CA430235092 | TTN,TTN-AS1 | c.98412A>G (p.Leu32804=) c.79497A>G (p.Leu26499=) c.79296A>G (p.Leu26432=) c.78921A>G (p.Leu26307=) c.106116A>G (p.Leu35372=) c.101193A>G (p.Leu33731=) n.446+6863T>C n.220-5233T>C c.105213A>G (p.Leu35071=) c.79107A>G (p.Leu26369=) c.78966A>G (p.Leu26322=) c.105009A>G (p.Leu35003=) c.100407A>G (p.Leu33469=) c.100404A>G (p.Leu33468=) c.97446A>G (p.Leu32482=) c.79062A>G (p.Leu26354=) c.100557A>G (p.Leu33519=) c.100554A>G (p.Leu33518=) c.99987A>G (p.Leu33329=) c.97329A>G (p.Leu32443=) c.97248A>G (p.Leu32416=) c.79011A>G (p.Leu26337=) c.68865A>G (p.Leu22955=) | |
2 | g.178530499T>G | CA349407001 | TTN,TTN-AS1 | c.98412A>C (p.Leu32804Phe) c.79497A>C (p.Leu26499Phe) c.79296A>C (p.Leu26432Phe) c.78921A>C (p.Leu26307Phe) c.106116A>C (p.Leu35372Phe) c.101193A>C (p.Leu33731Phe) n.446+6863T>G n.220-5233T>G c.105213A>C (p.Leu35071Phe) c.79107A>C (p.Leu26369Phe) c.78966A>C (p.Leu26322Phe) c.105009A>C (p.Leu35003Phe) c.100407A>C (p.Leu33469Phe) c.100404A>C (p.Leu33468Phe) c.97446A>C (p.Leu32482Phe) c.79062A>C (p.Leu26354Phe) c.100557A>C (p.Leu33519Phe) c.100554A>C (p.Leu33518Phe) c.99987A>C (p.Leu33329Phe) c.97329A>C (p.Leu32443Phe) c.97248A>C (p.Leu32416Phe) c.79011A>C (p.Leu26337Phe) c.68865A>C (p.Leu22955Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530499T= | CA1310514693 | TTN,TTN-AS1 | c.98412A= (p.Leu32804=) c.79497A= (p.Leu26499=) c.79296A= (p.Leu26432=) c.78921A= (p.Leu26307=) c.106116A= (p.Leu35372=) c.101193A= (p.Leu33731=) n.446+6863T= n.220-5233T= c.105213A= (p.Leu35071=) c.79107A= (p.Leu26369=) c.78966A= (p.Leu26322=) c.105009A= (p.Leu35003=) c.100407A= (p.Leu33469=) c.100404A= (p.Leu33468=) c.97446A= (p.Leu32482=) c.79062A= (p.Leu26354=) c.100557A= (p.Leu33519=) c.100554A= (p.Leu33518=) c.99987A= (p.Leu33329=) c.97329A= (p.Leu32443=) c.97248A= (p.Leu32416=) c.79011A= (p.Leu26337=) c.68865A= (p.Leu22955=) | |
2 | g.178530499_178530500insTT | CA2586970739 | TTN,TTN-AS1 | c.98412_98413insAA (p.Gln32805AsnfsTer?) c.79497_79498insAA (p.Gln26500AsnfsTer?) c.79296_79297insAA (p.Gln26433AsnfsTer?) c.78921_78922insAA (p.Gln26308AsnfsTer?) c.106116_106117insAA (p.Gln35373AsnfsTer?) c.101193_101194insAA (p.Gln33732AsnfsTer?) n.446+6863_446+6864insTT n.220-5233_220-5232insTT c.105213_105214insAA (p.Gln35072AsnfsTer?) c.79107_79108insAA (p.Gln26370AsnfsTer?) c.78966_78967insAA (p.Gln26323AsnfsTer?) c.105009_105010insAA (p.Gln35004AsnfsTer?) c.100407_100408insAA (p.Gln33470AsnfsTer?) c.100404_100405insAA (p.Gln33469AsnfsTer?) c.97446_97447insAA (p.Gln32483AsnfsTer?) c.79062_79063insAA (p.Gln26355AsnfsTer?) c.100557_100558insAA (p.Gln33520AsnfsTer?) c.100554_100555insAA (p.Gln33519AsnfsTer?) c.99987_99988insAA (p.Gln33330AsnfsTer?) c.97329_97330insAA (p.Gln32444AsnfsTer?) c.97248_97249insAA (p.Gln32417AsnfsTer?) c.79011_79012insAA (p.Gln26338AsnfsTer?) c.68865_68866insAA (p.Gln22956AsnfsTer?) | |
2 | g.178530500A>C | CA349407004 | TTN,TTN-AS1 | c.98411T>G (p.Leu32804Ter) c.79496T>G (p.Leu26499Ter) c.79295T>G (p.Leu26432Ter) c.78920T>G (p.Leu26307Ter) c.106115T>G (p.Leu35372Ter) c.101192T>G (p.Leu33731Ter) n.446+6864A>C n.220-5232A>C c.105212T>G (p.Leu35071Ter) c.79106T>G (p.Leu26369Ter) c.78965T>G (p.Leu26322Ter) c.105008T>G (p.Leu35003Ter) c.100406T>G (p.Leu33469Ter) c.100403T>G (p.Leu33468Ter) c.97445T>G (p.Leu32482Ter) c.79061T>G (p.Leu26354Ter) c.100556T>G (p.Leu33519Ter) c.100553T>G (p.Leu33518Ter) c.99986T>G (p.Leu33329Ter) c.97328T>G (p.Leu32443Ter) c.97247T>G (p.Leu32416Ter) c.79010T>G (p.Leu26337Ter) c.68864T>G (p.Leu22955Ter) | |
2 | g.178530500A>G | CA349407003 | TTN,TTN-AS1 | c.98411T>C (p.Leu32804Ser) c.79496T>C (p.Leu26499Ser) c.79295T>C (p.Leu26432Ser) c.78920T>C (p.Leu26307Ser) c.106115T>C (p.Leu35372Ser) c.101192T>C (p.Leu33731Ser) n.446+6864A>G n.220-5232A>G c.105212T>C (p.Leu35071Ser) c.79106T>C (p.Leu26369Ser) c.78965T>C (p.Leu26322Ser) c.105008T>C (p.Leu35003Ser) c.100406T>C (p.Leu33469Ser) c.100403T>C (p.Leu33468Ser) c.97445T>C (p.Leu32482Ser) c.79061T>C (p.Leu26354Ser) c.100556T>C (p.Leu33519Ser) c.100553T>C (p.Leu33518Ser) c.99986T>C (p.Leu33329Ser) c.97328T>C (p.Leu32443Ser) c.97247T>C (p.Leu32416Ser) c.79010T>C (p.Leu26337Ser) c.68864T>C (p.Leu22955Ser) | |
2 | g.178530500A>T | CA349407002 | TTN,TTN-AS1 | c.98411T>A (p.Leu32804Ter) c.79496T>A (p.Leu26499Ter) c.79295T>A (p.Leu26432Ter) c.78920T>A (p.Leu26307Ter) c.106115T>A (p.Leu35372Ter) c.101192T>A (p.Leu33731Ter) n.446+6864A>T n.220-5232A>T c.105212T>A (p.Leu35071Ter) c.79106T>A (p.Leu26369Ter) c.78965T>A (p.Leu26322Ter) c.105008T>A (p.Leu35003Ter) c.100406T>A (p.Leu33469Ter) c.100403T>A (p.Leu33468Ter) c.97445T>A (p.Leu32482Ter) c.79061T>A (p.Leu26354Ter) c.100556T>A (p.Leu33519Ter) c.100553T>A (p.Leu33518Ter) c.99986T>A (p.Leu33329Ter) c.97328T>A (p.Leu32443Ter) c.97247T>A (p.Leu32416Ter) c.79010T>A (p.Leu26337Ter) c.68864T>A (p.Leu22955Ter) | |
2 | g.178530500_178530501dup | CA761284672 | TTN,TTN-AS1 | c.98410_98411dup (p.Leu32804PhefsTer?) c.79495_79496dup (p.Leu26499PhefsTer?) c.79294_79295dup (p.Leu26432PhefsTer?) c.78919_78920dup (p.Leu26307PhefsTer?) c.106114_106115dup (p.Leu35372PhefsTer?) c.101191_101192dup (p.Leu33731PhefsTer?) n.446+6864_446+6865dup n.220-5232_220-5231dup c.105211_105212dup (p.Leu35071PhefsTer?) c.79105_79106dup (p.Leu26369PhefsTer?) c.78964_78965dup (p.Leu26322PhefsTer?) c.105007_105008dup (p.Leu35003PhefsTer?) c.100405_100406dup (p.Leu33469PhefsTer?) c.100402_100403dup (p.Leu33468PhefsTer?) c.97444_97445dup (p.Leu32482PhefsTer?) c.79060_79061dup (p.Leu26354PhefsTer?) c.100555_100556dup (p.Leu33519PhefsTer?) c.100552_100553dup (p.Leu33518PhefsTer?) c.99985_99986dup (p.Leu33329PhefsTer?) c.97327_97328dup (p.Leu32443PhefsTer?) c.97246_97247dup (p.Leu32416PhefsTer?) c.79009_79010dup (p.Leu26337PhefsTer?) c.68863_68864dup (p.Leu22955PhefsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530501A>C | CA349407005 | TTN,TTN-AS1 | c.98410T>G (p.Leu32804Val) c.79495T>G (p.Leu26499Val) c.79294T>G (p.Leu26432Val) c.78919T>G (p.Leu26307Val) c.106114T>G (p.Leu35372Val) c.101191T>G (p.Leu33731Val) n.446+6865A>C n.220-5231A>C c.105211T>G (p.Leu35071Val) c.79105T>G (p.Leu26369Val) c.78964T>G (p.Leu26322Val) c.105007T>G (p.Leu35003Val) c.100405T>G (p.Leu33469Val) c.100402T>G (p.Leu33468Val) c.97444T>G (p.Leu32482Val) c.79060T>G (p.Leu26354Val) c.100555T>G (p.Leu33519Val) c.100552T>G (p.Leu33518Val) c.99985T>G (p.Leu33329Val) c.97327T>G (p.Leu32443Val) c.97246T>G (p.Leu32416Val) c.79009T>G (p.Leu26337Val) c.68863T>G (p.Leu22955Val) | |
2 | g.178530501A>G | CA430235095 | TTN,TTN-AS1 | c.98410T>C (p.Leu32804=) c.79495T>C (p.Leu26499=) c.79294T>C (p.Leu26432=) c.78919T>C (p.Leu26307=) c.106114T>C (p.Leu35372=) c.101191T>C (p.Leu33731=) n.446+6865A>G n.220-5231A>G c.105211T>C (p.Leu35071=) c.79105T>C (p.Leu26369=) c.78964T>C (p.Leu26322=) c.105007T>C (p.Leu35003=) c.100405T>C (p.Leu33469=) c.100402T>C (p.Leu33468=) c.97444T>C (p.Leu32482=) c.79060T>C (p.Leu26354=) c.100555T>C (p.Leu33519=) c.100552T>C (p.Leu33518=) c.99985T>C (p.Leu33329=) c.97327T>C (p.Leu32443=) c.97246T>C (p.Leu32416=) c.79009T>C (p.Leu26337=) c.68863T>C (p.Leu22955=) | |
2 | g.178530501A>T | CA349407006 | TTN,TTN-AS1 | c.98410T>A (p.Leu32804Ile) c.79495T>A (p.Leu26499Ile) c.79294T>A (p.Leu26432Ile) c.78919T>A (p.Leu26307Ile) c.106114T>A (p.Leu35372Ile) c.101191T>A (p.Leu33731Ile) n.446+6865A>T n.220-5231A>T c.105211T>A (p.Leu35071Ile) c.79105T>A (p.Leu26369Ile) c.78964T>A (p.Leu26322Ile) c.105007T>A (p.Leu35003Ile) c.100405T>A (p.Leu33469Ile) c.100402T>A (p.Leu33468Ile) c.97444T>A (p.Leu32482Ile) c.79060T>A (p.Leu26354Ile) c.100555T>A (p.Leu33519Ile) c.100552T>A (p.Leu33518Ile) c.99985T>A (p.Leu33329Ile) c.97327T>A (p.Leu32443Ile) c.97246T>A (p.Leu32416Ile) c.79009T>A (p.Leu26337Ile) c.68863T>A (p.Leu22955Ile) | |
2 | g.178530502G>A | CA430235096 | TTN,TTN-AS1 | c.98409C>T (p.Asn32803=) c.79494C>T (p.Asn26498=) c.79293C>T (p.Asn26431=) c.78918C>T (p.Asn26306=) c.106113C>T (p.Asn35371=) c.101190C>T (p.Asn33730=) n.446+6866G>A n.220-5230G>A c.105210C>T (p.Asn35070=) c.79104C>T (p.Asn26368=) c.78963C>T (p.Asn26321=) c.105006C>T (p.Asn35002=) c.100404C>T (p.Asn33468=) c.100401C>T (p.Asn33467=) c.97443C>T (p.Asn32481=) c.79059C>T (p.Asn26353=) c.100554C>T (p.Asn33518=) c.100551C>T (p.Asn33517=) c.99984C>T (p.Asn33328=) c.97326C>T (p.Asn32442=) c.97245C>T (p.Asn32415=) c.79008C>T (p.Asn26336=) c.68862C>T (p.Asn22954=) | |
2 | g.178530502G>C | CA349407007 | TTN,TTN-AS1 | c.98409C>G (p.Asn32803Lys) c.79494C>G (p.Asn26498Lys) c.79293C>G (p.Asn26431Lys) c.78918C>G (p.Asn26306Lys) c.106113C>G (p.Asn35371Lys) c.101190C>G (p.Asn33730Lys) n.446+6866G>C n.220-5230G>C c.105210C>G (p.Asn35070Lys) c.79104C>G (p.Asn26368Lys) c.78963C>G (p.Asn26321Lys) c.105006C>G (p.Asn35002Lys) c.100404C>G (p.Asn33468Lys) c.100401C>G (p.Asn33467Lys) c.97443C>G (p.Asn32481Lys) c.79059C>G (p.Asn26353Lys) c.100554C>G (p.Asn33518Lys) c.100551C>G (p.Asn33517Lys) c.99984C>G (p.Asn33328Lys) c.97326C>G (p.Asn32442Lys) c.97245C>G (p.Asn32415Lys) c.79008C>G (p.Asn26336Lys) c.68862C>G (p.Asn22954Lys) | |
2 | g.178530502G>T | CA349407008 | TTN,TTN-AS1 | c.98409C>A (p.Asn32803Lys) c.79494C>A (p.Asn26498Lys) c.79293C>A (p.Asn26431Lys) c.78918C>A (p.Asn26306Lys) c.106113C>A (p.Asn35371Lys) c.101190C>A (p.Asn33730Lys) n.446+6866G>T n.220-5230G>T c.105210C>A (p.Asn35070Lys) c.79104C>A (p.Asn26368Lys) c.78963C>A (p.Asn26321Lys) c.105006C>A (p.Asn35002Lys) c.100404C>A (p.Asn33468Lys) c.100401C>A (p.Asn33467Lys) c.97443C>A (p.Asn32481Lys) c.79059C>A (p.Asn26353Lys) c.100554C>A (p.Asn33518Lys) c.100551C>A (p.Asn33517Lys) c.99984C>A (p.Asn33328Lys) c.97326C>A (p.Asn32442Lys) c.97245C>A (p.Asn32415Lys) c.79008C>A (p.Asn26336Lys) c.68862C>A (p.Asn22954Lys) | |
2 | g.178530503T>A | CA349407009 | TTN,TTN-AS1 | c.98408A>T (p.Asn32803Ile) c.79493A>T (p.Asn26498Ile) c.79292A>T (p.Asn26431Ile) c.78917A>T (p.Asn26306Ile) c.106112A>T (p.Asn35371Ile) c.101189A>T (p.Asn33730Ile) n.446+6867T>A n.220-5229T>A c.105209A>T (p.Asn35070Ile) c.79103A>T (p.Asn26368Ile) c.78962A>T (p.Asn26321Ile) c.105005A>T (p.Asn35002Ile) c.100403A>T (p.Asn33468Ile) c.100400A>T (p.Asn33467Ile) c.97442A>T (p.Asn32481Ile) c.79058A>T (p.Asn26353Ile) c.100553A>T (p.Asn33518Ile) c.100550A>T (p.Asn33517Ile) c.99983A>T (p.Asn33328Ile) c.97325A>T (p.Asn32442Ile) c.97244A>T (p.Asn32415Ile) c.79007A>T (p.Asn26336Ile) c.68861A>T (p.Asn22954Ile) | |
2 | g.178530503T>C | CA349407010 | TTN,TTN-AS1 | c.98408A>G (p.Asn32803Ser) c.79493A>G (p.Asn26498Ser) c.79292A>G (p.Asn26431Ser) c.78917A>G (p.Asn26306Ser) c.106112A>G (p.Asn35371Ser) c.101189A>G (p.Asn33730Ser) n.446+6867T>C n.220-5229T>C c.105209A>G (p.Asn35070Ser) c.79103A>G (p.Asn26368Ser) c.78962A>G (p.Asn26321Ser) c.105005A>G (p.Asn35002Ser) c.100403A>G (p.Asn33468Ser) c.100400A>G (p.Asn33467Ser) c.97442A>G (p.Asn32481Ser) c.79058A>G (p.Asn26353Ser) c.100553A>G (p.Asn33518Ser) c.100550A>G (p.Asn33517Ser) c.99983A>G (p.Asn33328Ser) c.97325A>G (p.Asn32442Ser) c.97244A>G (p.Asn32415Ser) c.79007A>G (p.Asn26336Ser) c.68861A>G (p.Asn22954Ser) | dbSNP gnomAD v2 |
2 | g.178530503T>G | CA349407011 | TTN,TTN-AS1 | c.98408A>C (p.Asn32803Thr) c.79493A>C (p.Asn26498Thr) c.79292A>C (p.Asn26431Thr) c.78917A>C (p.Asn26306Thr) c.106112A>C (p.Asn35371Thr) c.101189A>C (p.Asn33730Thr) n.446+6867T>G n.220-5229T>G c.105209A>C (p.Asn35070Thr) c.79103A>C (p.Asn26368Thr) c.78962A>C (p.Asn26321Thr) c.105005A>C (p.Asn35002Thr) c.100403A>C (p.Asn33468Thr) c.100400A>C (p.Asn33467Thr) c.97442A>C (p.Asn32481Thr) c.79058A>C (p.Asn26353Thr) c.100553A>C (p.Asn33518Thr) c.100550A>C (p.Asn33517Thr) c.99983A>C (p.Asn33328Thr) c.97325A>C (p.Asn32442Thr) c.97244A>C (p.Asn32415Thr) c.79007A>C (p.Asn26336Thr) c.68861A>C (p.Asn22954Thr) | |
2 | g.178530503T= | CA1310514697 | TTN,TTN-AS1 | c.98408A= (p.Asn32803=) c.79493A= (p.Asn26498=) c.79292A= (p.Asn26431=) c.78917A= (p.Asn26306=) c.106112A= (p.Asn35371=) c.101189A= (p.Asn33730=) n.446+6867T= n.220-5229T= c.105209A= (p.Asn35070=) c.79103A= (p.Asn26368=) c.78962A= (p.Asn26321=) c.105005A= (p.Asn35002=) c.100403A= (p.Asn33468=) c.100400A= (p.Asn33467=) c.97442A= (p.Asn32481=) c.79058A= (p.Asn26353=) c.100553A= (p.Asn33518=) c.100550A= (p.Asn33517=) c.99983A= (p.Asn33328=) c.97325A= (p.Asn32442=) c.97244A= (p.Asn32415=) c.79007A= (p.Asn26336=) c.68861A= (p.Asn22954=) | |
2 | g.178530504T>A | CA349407012 | TTN,TTN-AS1 | c.98407A>T (p.Asn32803Tyr) c.79492A>T (p.Asn26498Tyr) c.79291A>T (p.Asn26431Tyr) c.78916A>T (p.Asn26306Tyr) c.106111A>T (p.Asn35371Tyr) c.101188A>T (p.Asn33730Tyr) n.446+6868T>A n.220-5228T>A c.105208A>T (p.Asn35070Tyr) c.79102A>T (p.Asn26368Tyr) c.78961A>T (p.Asn26321Tyr) c.105004A>T (p.Asn35002Tyr) c.100402A>T (p.Asn33468Tyr) c.100399A>T (p.Asn33467Tyr) c.97441A>T (p.Asn32481Tyr) c.79057A>T (p.Asn26353Tyr) c.100552A>T (p.Asn33518Tyr) c.100549A>T (p.Asn33517Tyr) c.99982A>T (p.Asn33328Tyr) c.97324A>T (p.Asn32442Tyr) c.97243A>T (p.Asn32415Tyr) c.79006A>T (p.Asn26336Tyr) c.68860A>T (p.Asn22954Tyr) | |
2 | g.178530504T>C | CA349407013 | TTN,TTN-AS1 | c.98407A>G (p.Asn32803Asp) c.79492A>G (p.Asn26498Asp) c.79291A>G (p.Asn26431Asp) c.78916A>G (p.Asn26306Asp) c.106111A>G (p.Asn35371Asp) c.101188A>G (p.Asn33730Asp) n.446+6868T>C n.220-5228T>C c.105208A>G (p.Asn35070Asp) c.79102A>G (p.Asn26368Asp) c.78961A>G (p.Asn26321Asp) c.105004A>G (p.Asn35002Asp) c.100402A>G (p.Asn33468Asp) c.100399A>G (p.Asn33467Asp) c.97441A>G (p.Asn32481Asp) c.79057A>G (p.Asn26353Asp) c.100552A>G (p.Asn33518Asp) c.100549A>G (p.Asn33517Asp) c.99982A>G (p.Asn33328Asp) c.97324A>G (p.Asn32442Asp) c.97243A>G (p.Asn32415Asp) c.79006A>G (p.Asn26336Asp) c.68860A>G (p.Asn22954Asp) | ClinVar |
2 | g.178530504T>G | CA349407014 | TTN,TTN-AS1 | c.98407A>C (p.Asn32803His) c.79492A>C (p.Asn26498His) c.79291A>C (p.Asn26431His) c.78916A>C (p.Asn26306His) c.106111A>C (p.Asn35371His) c.101188A>C (p.Asn33730His) n.446+6868T>G n.220-5228T>G c.105208A>C (p.Asn35070His) c.79102A>C (p.Asn26368His) c.78961A>C (p.Asn26321His) c.105004A>C (p.Asn35002His) c.100402A>C (p.Asn33468His) c.100399A>C (p.Asn33467His) c.97441A>C (p.Asn32481His) c.79057A>C (p.Asn26353His) c.100552A>C (p.Asn33518His) c.100549A>C (p.Asn33517His) c.99982A>C (p.Asn33328His) c.97324A>C (p.Asn32442His) c.97243A>C (p.Asn32415His) c.79006A>C (p.Asn26336His) c.68860A>C (p.Asn22954His) | |
2 | g.178530505G>A | CA430235101 | TTN,TTN-AS1 | c.98406C>T (p.Thr32802=) c.79491C>T (p.Thr26497=) c.79290C>T (p.Thr26430=) c.78915C>T (p.Thr26305=) c.106110C>T (p.Thr35370=) c.101187C>T (p.Thr33729=) n.446+6869G>A n.220-5227G>A c.105207C>T (p.Thr35069=) c.79101C>T (p.Thr26367=) c.78960C>T (p.Thr26320=) c.105003C>T (p.Thr35001=) c.100401C>T (p.Thr33467=) c.100398C>T (p.Thr33466=) c.97440C>T (p.Thr32480=) c.79056C>T (p.Thr26352=) c.100551C>T (p.Thr33517=) c.100548C>T (p.Thr33516=) c.99981C>T (p.Thr33327=) c.97323C>T (p.Thr32441=) c.97242C>T (p.Thr32414=) c.79005C>T (p.Thr26335=) c.68859C>T (p.Thr22953=) | dbSNP |
2 | g.178530505G>C | CA430235102 | TTN,TTN-AS1 | c.98406C>G (p.Thr32802=) c.79491C>G (p.Thr26497=) c.79290C>G (p.Thr26430=) c.78915C>G (p.Thr26305=) c.106110C>G (p.Thr35370=) c.101187C>G (p.Thr33729=) n.446+6869G>C n.220-5227G>C c.105207C>G (p.Thr35069=) c.79101C>G (p.Thr26367=) c.78960C>G (p.Thr26320=) c.105003C>G (p.Thr35001=) c.100401C>G (p.Thr33467=) c.100398C>G (p.Thr33466=) c.97440C>G (p.Thr32480=) c.79056C>G (p.Thr26352=) c.100551C>G (p.Thr33517=) c.100548C>G (p.Thr33516=) c.99981C>G (p.Thr33327=) c.97323C>G (p.Thr32441=) c.97242C>G (p.Thr32414=) c.79005C>G (p.Thr26335=) c.68859C>G (p.Thr22953=) | |
2 | g.178530505G>T | CA430235103 | TTN,TTN-AS1 | c.98406C>A (p.Thr32802=) c.79491C>A (p.Thr26497=) c.79290C>A (p.Thr26430=) c.78915C>A (p.Thr26305=) c.106110C>A (p.Thr35370=) c.101187C>A (p.Thr33729=) n.446+6869G>T n.220-5227G>T c.105207C>A (p.Thr35069=) c.79101C>A (p.Thr26367=) c.78960C>A (p.Thr26320=) c.105003C>A (p.Thr35001=) c.100401C>A (p.Thr33467=) c.100398C>A (p.Thr33466=) c.97440C>A (p.Thr32480=) c.79056C>A (p.Thr26352=) c.100551C>A (p.Thr33517=) c.100548C>A (p.Thr33516=) c.99981C>A (p.Thr33327=) c.97323C>A (p.Thr32441=) c.97242C>A (p.Thr32414=) c.79005C>A (p.Thr26335=) c.68859C>A (p.Thr22953=) | |
2 | g.178530506G>A | CA349407015 | TTN,TTN-AS1 | c.98405C>T (p.Thr32802Ile) c.79490C>T (p.Thr26497Ile) c.79289C>T (p.Thr26430Ile) c.78914C>T (p.Thr26305Ile) c.106109C>T (p.Thr35370Ile) c.101186C>T (p.Thr33729Ile) n.446+6870G>A n.220-5226G>A c.105206C>T (p.Thr35069Ile) c.79100C>T (p.Thr26367Ile) c.78959C>T (p.Thr26320Ile) c.105002C>T (p.Thr35001Ile) c.100400C>T (p.Thr33467Ile) c.100397C>T (p.Thr33466Ile) c.97439C>T (p.Thr32480Ile) c.79055C>T (p.Thr26352Ile) c.100550C>T (p.Thr33517Ile) c.100547C>T (p.Thr33516Ile) c.99980C>T (p.Thr33327Ile) c.97322C>T (p.Thr32441Ile) c.97241C>T (p.Thr32414Ile) c.79004C>T (p.Thr26335Ile) c.68858C>T (p.Thr22953Ile) | gnomAD v4 |
2 | g.178530506G>C | CA349407016 | TTN,TTN-AS1 | c.98405C>G (p.Thr32802Ser) c.79490C>G (p.Thr26497Ser) c.79289C>G (p.Thr26430Ser) c.78914C>G (p.Thr26305Ser) c.106109C>G (p.Thr35370Ser) c.101186C>G (p.Thr33729Ser) n.446+6870G>C n.220-5226G>C c.105206C>G (p.Thr35069Ser) c.79100C>G (p.Thr26367Ser) c.78959C>G (p.Thr26320Ser) c.105002C>G (p.Thr35001Ser) c.100400C>G (p.Thr33467Ser) c.100397C>G (p.Thr33466Ser) c.97439C>G (p.Thr32480Ser) c.79055C>G (p.Thr26352Ser) c.100550C>G (p.Thr33517Ser) c.100547C>G (p.Thr33516Ser) c.99980C>G (p.Thr33327Ser) c.97322C>G (p.Thr32441Ser) c.97241C>G (p.Thr32414Ser) c.79004C>G (p.Thr26335Ser) c.68858C>G (p.Thr22953Ser) | dbSNP |
2 | g.178530506G= | CA1310514699 | TTN,TTN-AS1 | c.98405C= (p.Thr32802=) c.79490C= (p.Thr26497=) c.79289C= (p.Thr26430=) c.78914C= (p.Thr26305=) c.106109C= (p.Thr35370=) c.101186C= (p.Thr33729=) n.446+6870G= n.220-5226G= c.105206C= (p.Thr35069=) c.79100C= (p.Thr26367=) c.78959C= (p.Thr26320=) c.105002C= (p.Thr35001=) c.100400C= (p.Thr33467=) c.100397C= (p.Thr33466=) c.97439C= (p.Thr32480=) c.79055C= (p.Thr26352=) c.100550C= (p.Thr33517=) c.100547C= (p.Thr33516=) c.99980C= (p.Thr33327=) c.97322C= (p.Thr32441=) c.97241C= (p.Thr32414=) c.79004C= (p.Thr26335=) c.68858C= (p.Thr22953=) | |
2 | g.178530506G>T | CA60953420 | TTN,TTN-AS1 | c.98405C>A (p.Thr32802Asn) c.79490C>A (p.Thr26497Asn) c.79289C>A (p.Thr26430Asn) c.78914C>A (p.Thr26305Asn) c.106109C>A (p.Thr35370Asn) c.101186C>A (p.Thr33729Asn) n.446+6870G>T n.220-5226G>T c.105206C>A (p.Thr35069Asn) c.79100C>A (p.Thr26367Asn) c.78959C>A (p.Thr26320Asn) c.105002C>A (p.Thr35001Asn) c.100400C>A (p.Thr33467Asn) c.100397C>A (p.Thr33466Asn) c.97439C>A (p.Thr32480Asn) c.79055C>A (p.Thr26352Asn) c.100550C>A (p.Thr33517Asn) c.100547C>A (p.Thr33516Asn) c.99980C>A (p.Thr33327Asn) c.97322C>A (p.Thr32441Asn) c.97241C>A (p.Thr32414Asn) c.79004C>A (p.Thr26335Asn) c.68858C>A (p.Thr22953Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530507T>A | CA349407018 | TTN,TTN-AS1 | c.98404A>T (p.Thr32802Ser) c.79489A>T (p.Thr26497Ser) c.79288A>T (p.Thr26430Ser) c.78913A>T (p.Thr26305Ser) c.106108A>T (p.Thr35370Ser) c.101185A>T (p.Thr33729Ser) n.446+6871T>A n.220-5225T>A c.105205A>T (p.Thr35069Ser) c.79099A>T (p.Thr26367Ser) c.78958A>T (p.Thr26320Ser) c.105001A>T (p.Thr35001Ser) c.100399A>T (p.Thr33467Ser) c.100396A>T (p.Thr33466Ser) c.97438A>T (p.Thr32480Ser) c.79054A>T (p.Thr26352Ser) c.100549A>T (p.Thr33517Ser) c.100546A>T (p.Thr33516Ser) c.99979A>T (p.Thr33327Ser) c.97321A>T (p.Thr32441Ser) c.97240A>T (p.Thr32414Ser) c.79003A>T (p.Thr26335Ser) c.68857A>T (p.Thr22953Ser) | |
2 | g.178530507T>C | CA60953427 | TTN,TTN-AS1 | c.98404A>G (p.Thr32802Ala) c.79489A>G (p.Thr26497Ala) c.79288A>G (p.Thr26430Ala) c.78913A>G (p.Thr26305Ala) c.106108A>G (p.Thr35370Ala) c.101185A>G (p.Thr33729Ala) n.446+6871T>C n.220-5225T>C c.105205A>G (p.Thr35069Ala) c.79099A>G (p.Thr26367Ala) c.78958A>G (p.Thr26320Ala) c.105001A>G (p.Thr35001Ala) c.100399A>G (p.Thr33467Ala) c.100396A>G (p.Thr33466Ala) c.97438A>G (p.Thr32480Ala) c.79054A>G (p.Thr26352Ala) c.100549A>G (p.Thr33517Ala) c.100546A>G (p.Thr33516Ala) c.99979A>G (p.Thr33327Ala) c.97321A>G (p.Thr32441Ala) c.97240A>G (p.Thr32414Ala) c.79003A>G (p.Thr26335Ala) c.68857A>G (p.Thr22953Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530507T>G | CA349407017 | TTN,TTN-AS1 | c.98404A>C (p.Thr32802Pro) c.79489A>C (p.Thr26497Pro) c.79288A>C (p.Thr26430Pro) c.78913A>C (p.Thr26305Pro) c.106108A>C (p.Thr35370Pro) c.101185A>C (p.Thr33729Pro) n.446+6871T>G n.220-5225T>G c.105205A>C (p.Thr35069Pro) c.79099A>C (p.Thr26367Pro) c.78958A>C (p.Thr26320Pro) c.105001A>C (p.Thr35001Pro) c.100399A>C (p.Thr33467Pro) c.100396A>C (p.Thr33466Pro) c.97438A>C (p.Thr32480Pro) c.79054A>C (p.Thr26352Pro) c.100549A>C (p.Thr33517Pro) c.100546A>C (p.Thr33516Pro) c.99979A>C (p.Thr33327Pro) c.97321A>C (p.Thr32441Pro) c.97240A>C (p.Thr32414Pro) c.79003A>C (p.Thr26335Pro) c.68857A>C (p.Thr22953Pro) | dbSNP |
2 | g.178530507T= | CA1310514701 | TTN,TTN-AS1 | c.98404A= (p.Thr32802=) c.79489A= (p.Thr26497=) c.79288A= (p.Thr26430=) c.78913A= (p.Thr26305=) c.106108A= (p.Thr35370=) c.101185A= (p.Thr33729=) n.446+6871T= n.220-5225T= c.105205A= (p.Thr35069=) c.79099A= (p.Thr26367=) c.78958A= (p.Thr26320=) c.105001A= (p.Thr35001=) c.100399A= (p.Thr33467=) c.100396A= (p.Thr33466=) c.97438A= (p.Thr32480=) c.79054A= (p.Thr26352=) c.100549A= (p.Thr33517=) c.100546A= (p.Thr33516=) c.99979A= (p.Thr33327=) c.97321A= (p.Thr32441=) c.97240A= (p.Thr32414=) c.79003A= (p.Thr26335=) c.68857A= (p.Thr22953=) | |
2 | g.178530508T>A | CA349407019 | TTN,TTN-AS1 | c.98403A>T (p.Lys32801Asn) c.79488A>T (p.Lys26496Asn) c.79287A>T (p.Lys26429Asn) c.78912A>T (p.Lys26304Asn) c.106107A>T (p.Lys35369Asn) c.101184A>T (p.Lys33728Asn) n.446+6872T>A n.220-5224T>A c.105204A>T (p.Lys35068Asn) c.79098A>T (p.Lys26366Asn) c.78957A>T (p.Lys26319Asn) c.105000A>T (p.Lys35000Asn) c.100398A>T (p.Lys33466Asn) c.100395A>T (p.Lys33465Asn) c.97437A>T (p.Lys32479Asn) c.79053A>T (p.Lys26351Asn) c.100548A>T (p.Lys33516Asn) c.100545A>T (p.Lys33515Asn) c.99978A>T (p.Lys33326Asn) c.97320A>T (p.Lys32440Asn) c.97239A>T (p.Lys32413Asn) c.79002A>T (p.Lys26334Asn) c.68856A>T (p.Lys22952Asn) | |
2 | g.178530508T>C | CA430235110 | TTN,TTN-AS1 | c.98403A>G (p.Lys32801=) c.79488A>G (p.Lys26496=) c.79287A>G (p.Lys26429=) c.78912A>G (p.Lys26304=) c.106107A>G (p.Lys35369=) c.101184A>G (p.Lys33728=) n.446+6872T>C n.220-5224T>C c.105204A>G (p.Lys35068=) c.79098A>G (p.Lys26366=) c.78957A>G (p.Lys26319=) c.105000A>G (p.Lys35000=) c.100398A>G (p.Lys33466=) c.100395A>G (p.Lys33465=) c.97437A>G (p.Lys32479=) c.79053A>G (p.Lys26351=) c.100548A>G (p.Lys33516=) c.100545A>G (p.Lys33515=) c.99978A>G (p.Lys33326=) c.97320A>G (p.Lys32440=) c.97239A>G (p.Lys32413=) c.79002A>G (p.Lys26334=) c.68856A>G (p.Lys22952=) | |
2 | g.178530508T>G | CA349407020 | TTN,TTN-AS1 | c.98403A>C (p.Lys32801Asn) c.79488A>C (p.Lys26496Asn) c.79287A>C (p.Lys26429Asn) c.78912A>C (p.Lys26304Asn) c.106107A>C (p.Lys35369Asn) c.101184A>C (p.Lys33728Asn) n.446+6872T>G n.220-5224T>G c.105204A>C (p.Lys35068Asn) c.79098A>C (p.Lys26366Asn) c.78957A>C (p.Lys26319Asn) c.105000A>C (p.Lys35000Asn) c.100398A>C (p.Lys33466Asn) c.100395A>C (p.Lys33465Asn) c.97437A>C (p.Lys32479Asn) c.79053A>C (p.Lys26351Asn) c.100548A>C (p.Lys33516Asn) c.100545A>C (p.Lys33515Asn) c.99978A>C (p.Lys33326Asn) c.97320A>C (p.Lys32440Asn) c.97239A>C (p.Lys32413Asn) c.79002A>C (p.Lys26334Asn) c.68856A>C (p.Lys22952Asn) | |
2 | g.178530509T>A | CA349407021 | TTN,TTN-AS1 | c.98402A>T (p.Lys32801Ile) c.79487A>T (p.Lys26496Ile) c.79286A>T (p.Lys26429Ile) c.78911A>T (p.Lys26304Ile) c.106106A>T (p.Lys35369Ile) c.101183A>T (p.Lys33728Ile) n.446+6873T>A n.220-5223T>A c.105203A>T (p.Lys35068Ile) c.79097A>T (p.Lys26366Ile) c.78956A>T (p.Lys26319Ile) c.104999A>T (p.Lys35000Ile) c.100397A>T (p.Lys33466Ile) c.100394A>T (p.Lys33465Ile) c.97436A>T (p.Lys32479Ile) c.79052A>T (p.Lys26351Ile) c.100547A>T (p.Lys33516Ile) c.100544A>T (p.Lys33515Ile) c.99977A>T (p.Lys33326Ile) c.97319A>T (p.Lys32440Ile) c.97238A>T (p.Lys32413Ile) c.79001A>T (p.Lys26334Ile) c.68855A>T (p.Lys22952Ile) | |
2 | g.178530509T>C | CA349407022 | TTN,TTN-AS1 | c.98402A>G (p.Lys32801Arg) c.79487A>G (p.Lys26496Arg) c.79286A>G (p.Lys26429Arg) c.78911A>G (p.Lys26304Arg) c.106106A>G (p.Lys35369Arg) c.101183A>G (p.Lys33728Arg) n.446+6873T>C n.220-5223T>C c.105203A>G (p.Lys35068Arg) c.79097A>G (p.Lys26366Arg) c.78956A>G (p.Lys26319Arg) c.104999A>G (p.Lys35000Arg) c.100397A>G (p.Lys33466Arg) c.100394A>G (p.Lys33465Arg) c.97436A>G (p.Lys32479Arg) c.79052A>G (p.Lys26351Arg) c.100547A>G (p.Lys33516Arg) c.100544A>G (p.Lys33515Arg) c.99977A>G (p.Lys33326Arg) c.97319A>G (p.Lys32440Arg) c.97238A>G (p.Lys32413Arg) c.79001A>G (p.Lys26334Arg) c.68855A>G (p.Lys22952Arg) | |
2 | g.178530509T>G | CA349407023 | TTN,TTN-AS1 | c.98402A>C (p.Lys32801Thr) c.79487A>C (p.Lys26496Thr) c.79286A>C (p.Lys26429Thr) c.78911A>C (p.Lys26304Thr) c.106106A>C (p.Lys35369Thr) c.101183A>C (p.Lys33728Thr) n.446+6873T>G n.220-5223T>G c.105203A>C (p.Lys35068Thr) c.79097A>C (p.Lys26366Thr) c.78956A>C (p.Lys26319Thr) c.104999A>C (p.Lys35000Thr) c.100397A>C (p.Lys33466Thr) c.100394A>C (p.Lys33465Thr) c.97436A>C (p.Lys32479Thr) c.79052A>C (p.Lys26351Thr) c.100547A>C (p.Lys33516Thr) c.100544A>C (p.Lys33515Thr) c.99977A>C (p.Lys33326Thr) c.97319A>C (p.Lys32440Thr) c.97238A>C (p.Lys32413Thr) c.79001A>C (p.Lys26334Thr) c.68855A>C (p.Lys22952Thr) | |
2 | g.178530510T>A | CA349407024 | TTN,TTN-AS1 | c.98401A>T (p.Lys32801Ter) c.79486A>T (p.Lys26496Ter) c.79285A>T (p.Lys26429Ter) c.78910A>T (p.Lys26304Ter) c.106105A>T (p.Lys35369Ter) c.101182A>T (p.Lys33728Ter) n.446+6874T>A n.220-5222T>A c.105202A>T (p.Lys35068Ter) c.79096A>T (p.Lys26366Ter) c.78955A>T (p.Lys26319Ter) c.104998A>T (p.Lys35000Ter) c.100396A>T (p.Lys33466Ter) c.100393A>T (p.Lys33465Ter) c.97435A>T (p.Lys32479Ter) c.79051A>T (p.Lys26351Ter) c.100546A>T (p.Lys33516Ter) c.100543A>T (p.Lys33515Ter) c.99976A>T (p.Lys33326Ter) c.97318A>T (p.Lys32440Ter) c.97237A>T (p.Lys32413Ter) c.79000A>T (p.Lys26334Ter) c.68854A>T (p.Lys22952Ter) | |
2 | g.178530510T>C | CA349407025 | TTN,TTN-AS1 | c.98401A>G (p.Lys32801Glu) c.79486A>G (p.Lys26496Glu) c.79285A>G (p.Lys26429Glu) c.78910A>G (p.Lys26304Glu) c.106105A>G (p.Lys35369Glu) c.101182A>G (p.Lys33728Glu) n.446+6874T>C n.220-5222T>C c.105202A>G (p.Lys35068Glu) c.79096A>G (p.Lys26366Glu) c.78955A>G (p.Lys26319Glu) c.104998A>G (p.Lys35000Glu) c.100396A>G (p.Lys33466Glu) c.100393A>G (p.Lys33465Glu) c.97435A>G (p.Lys32479Glu) c.79051A>G (p.Lys26351Glu) c.100546A>G (p.Lys33516Glu) c.100543A>G (p.Lys33515Glu) c.99976A>G (p.Lys33326Glu) c.97318A>G (p.Lys32440Glu) c.97237A>G (p.Lys32413Glu) c.79000A>G (p.Lys26334Glu) c.68854A>G (p.Lys22952Glu) | |
2 | g.178530510T>G | CA349407026 | TTN,TTN-AS1 | c.98401A>C (p.Lys32801Gln) c.79486A>C (p.Lys26496Gln) c.79285A>C (p.Lys26429Gln) c.78910A>C (p.Lys26304Gln) c.106105A>C (p.Lys35369Gln) c.101182A>C (p.Lys33728Gln) n.446+6874T>G n.220-5222T>G c.105202A>C (p.Lys35068Gln) c.79096A>C (p.Lys26366Gln) c.78955A>C (p.Lys26319Gln) c.104998A>C (p.Lys35000Gln) c.100396A>C (p.Lys33466Gln) c.100393A>C (p.Lys33465Gln) c.97435A>C (p.Lys32479Gln) c.79051A>C (p.Lys26351Gln) c.100546A>C (p.Lys33516Gln) c.100543A>C (p.Lys33515Gln) c.99976A>C (p.Lys33326Gln) c.97318A>C (p.Lys32440Gln) c.97237A>C (p.Lys32413Gln) c.79000A>C (p.Lys26334Gln) c.68854A>C (p.Lys22952Gln) | |
2 | g.178530511A= | CA1310514702 | TTN,TTN-AS1 | c.98400T= (p.Ser32800=) c.79485T= (p.Ser26495=) c.79284T= (p.Ser26428=) c.78909T= (p.Ser26303=) c.106104T= (p.Ser35368=) c.101181T= (p.Ser33727=) n.446+6875A= n.220-5221A= c.105201T= (p.Ser35067=) c.79095T= (p.Ser26365=) c.78954T= (p.Ser26318=) c.104997T= (p.Ser34999=) c.100395T= (p.Ser33465=) c.100392T= (p.Ser33464=) c.97434T= (p.Ser32478=) c.79050T= (p.Ser26350=) c.100545T= (p.Ser33515=) c.100542T= (p.Ser33514=) c.99975T= (p.Ser33325=) c.97317T= (p.Ser32439=) c.97236T= (p.Ser32412=) c.78999T= (p.Ser26333=) c.68853T= (p.Ser22951=) | |
2 | g.178530511A>C | CA430235115 | TTN,TTN-AS1 | c.98400T>G (p.Ser32800=) c.79485T>G (p.Ser26495=) c.79284T>G (p.Ser26428=) c.78909T>G (p.Ser26303=) c.106104T>G (p.Ser35368=) c.101181T>G (p.Ser33727=) n.446+6875A>C n.220-5221A>C c.105201T>G (p.Ser35067=) c.79095T>G (p.Ser26365=) c.78954T>G (p.Ser26318=) c.104997T>G (p.Ser34999=) c.100395T>G (p.Ser33465=) c.100392T>G (p.Ser33464=) c.97434T>G (p.Ser32478=) c.79050T>G (p.Ser26350=) c.100545T>G (p.Ser33515=) c.100542T>G (p.Ser33514=) c.99975T>G (p.Ser33325=) c.97317T>G (p.Ser32439=) c.97236T>G (p.Ser32412=) c.78999T>G (p.Ser26333=) c.68853T>G (p.Ser22951=) | |
2 | g.178530511A>G | CA430235116 | TTN,TTN-AS1 | c.98400T>C (p.Ser32800=) c.79485T>C (p.Ser26495=) c.79284T>C (p.Ser26428=) c.78909T>C (p.Ser26303=) c.106104T>C (p.Ser35368=) c.101181T>C (p.Ser33727=) n.446+6875A>G n.220-5221A>G c.105201T>C (p.Ser35067=) c.79095T>C (p.Ser26365=) c.78954T>C (p.Ser26318=) c.104997T>C (p.Ser34999=) c.100395T>C (p.Ser33465=) c.100392T>C (p.Ser33464=) c.97434T>C (p.Ser32478=) c.79050T>C (p.Ser26350=) c.100545T>C (p.Ser33515=) c.100542T>C (p.Ser33514=) c.99975T>C (p.Ser33325=) c.97317T>C (p.Ser32439=) c.97236T>C (p.Ser32412=) c.78999T>C (p.Ser26333=) c.68853T>C (p.Ser22951=) | dbSNP |
2 | g.178530511A>T | CA430235117 | TTN,TTN-AS1 | c.98400T>A (p.Ser32800=) c.79485T>A (p.Ser26495=) c.79284T>A (p.Ser26428=) c.78909T>A (p.Ser26303=) c.106104T>A (p.Ser35368=) c.101181T>A (p.Ser33727=) n.446+6875A>T n.220-5221A>T c.105201T>A (p.Ser35067=) c.79095T>A (p.Ser26365=) c.78954T>A (p.Ser26318=) c.104997T>A (p.Ser34999=) c.100395T>A (p.Ser33465=) c.100392T>A (p.Ser33464=) c.97434T>A (p.Ser32478=) c.79050T>A (p.Ser26350=) c.100545T>A (p.Ser33515=) c.100542T>A (p.Ser33514=) c.99975T>A (p.Ser33325=) c.97317T>A (p.Ser32439=) c.97236T>A (p.Ser32412=) c.78999T>A (p.Ser26333=) c.68853T>A (p.Ser22951=) | dbSNP |
2 | g.178530512G>A | CA349407027 | TTN,TTN-AS1 | c.98399C>T (p.Ser32800Phe) c.79484C>T (p.Ser26495Phe) c.79283C>T (p.Ser26428Phe) c.78908C>T (p.Ser26303Phe) c.106103C>T (p.Ser35368Phe) c.101180C>T (p.Ser33727Phe) n.446+6876G>A n.220-5220G>A c.105200C>T (p.Ser35067Phe) c.79094C>T (p.Ser26365Phe) c.78953C>T (p.Ser26318Phe) c.104996C>T (p.Ser34999Phe) c.100394C>T (p.Ser33465Phe) c.100391C>T (p.Ser33464Phe) c.97433C>T (p.Ser32478Phe) c.79049C>T (p.Ser26350Phe) c.100544C>T (p.Ser33515Phe) c.100541C>T (p.Ser33514Phe) c.99974C>T (p.Ser33325Phe) c.97316C>T (p.Ser32439Phe) c.97235C>T (p.Ser32412Phe) c.78998C>T (p.Ser26333Phe) c.68852C>T (p.Ser22951Phe) | dbSNP |
2 | g.178530512G>C | CA349407028 | TTN,TTN-AS1 | c.98399C>G (p.Ser32800Cys) c.79484C>G (p.Ser26495Cys) c.79283C>G (p.Ser26428Cys) c.78908C>G (p.Ser26303Cys) c.106103C>G (p.Ser35368Cys) c.101180C>G (p.Ser33727Cys) n.446+6876G>C n.220-5220G>C c.105200C>G (p.Ser35067Cys) c.79094C>G (p.Ser26365Cys) c.78953C>G (p.Ser26318Cys) c.104996C>G (p.Ser34999Cys) c.100394C>G (p.Ser33465Cys) c.100391C>G (p.Ser33464Cys) c.97433C>G (p.Ser32478Cys) c.79049C>G (p.Ser26350Cys) c.100544C>G (p.Ser33515Cys) c.100541C>G (p.Ser33514Cys) c.99974C>G (p.Ser33325Cys) c.97316C>G (p.Ser32439Cys) c.97235C>G (p.Ser32412Cys) c.78998C>G (p.Ser26333Cys) c.68852C>G (p.Ser22951Cys) | ClinVar |
2 | g.178530512G= | CA1310514703 | TTN,TTN-AS1 | c.98399C= (p.Ser32800=) c.79484C= (p.Ser26495=) c.79283C= (p.Ser26428=) c.78908C= (p.Ser26303=) c.106103C= (p.Ser35368=) c.101180C= (p.Ser33727=) n.446+6876G= n.220-5220G= c.105200C= (p.Ser35067=) c.79094C= (p.Ser26365=) c.78953C= (p.Ser26318=) c.104996C= (p.Ser34999=) c.100394C= (p.Ser33465=) c.100391C= (p.Ser33464=) c.97433C= (p.Ser32478=) c.79049C= (p.Ser26350=) c.100544C= (p.Ser33515=) c.100541C= (p.Ser33514=) c.99974C= (p.Ser33325=) c.97316C= (p.Ser32439=) c.97235C= (p.Ser32412=) c.78998C= (p.Ser26333=) c.68852C= (p.Ser22951=) | |
2 | g.178530512G>T | CA349407029 | TTN,TTN-AS1 | c.98399C>A (p.Ser32800Tyr) c.79484C>A (p.Ser26495Tyr) c.79283C>A (p.Ser26428Tyr) c.78908C>A (p.Ser26303Tyr) c.106103C>A (p.Ser35368Tyr) c.101180C>A (p.Ser33727Tyr) n.446+6876G>T n.220-5220G>T c.105200C>A (p.Ser35067Tyr) c.79094C>A (p.Ser26365Tyr) c.78953C>A (p.Ser26318Tyr) c.104996C>A (p.Ser34999Tyr) c.100394C>A (p.Ser33465Tyr) c.100391C>A (p.Ser33464Tyr) c.97433C>A (p.Ser32478Tyr) c.79049C>A (p.Ser26350Tyr) c.100544C>A (p.Ser33515Tyr) c.100541C>A (p.Ser33514Tyr) c.99974C>A (p.Ser33325Tyr) c.97316C>A (p.Ser32439Tyr) c.97235C>A (p.Ser32412Tyr) c.78998C>A (p.Ser26333Tyr) c.68852C>A (p.Ser22951Tyr) | |
2 | g.178530513A= | CA1310514705 | TTN,TTN-AS1 | c.98398T= (p.Ser32800=) c.79483T= (p.Ser26495=) c.79282T= (p.Ser26428=) c.78907T= (p.Ser26303=) c.106102T= (p.Ser35368=) c.101179T= (p.Ser33727=) n.446+6877A= n.220-5219A= c.105199T= (p.Ser35067=) c.79093T= (p.Ser26365=) c.78952T= (p.Ser26318=) c.104995T= (p.Ser34999=) c.100393T= (p.Ser33465=) c.100390T= (p.Ser33464=) c.97432T= (p.Ser32478=) c.79048T= (p.Ser26350=) c.100543T= (p.Ser33515=) c.100540T= (p.Ser33514=) c.99973T= (p.Ser33325=) c.97315T= (p.Ser32439=) c.97234T= (p.Ser32412=) c.78997T= (p.Ser26333=) c.68851T= (p.Ser22951=) | |
2 | g.178530513A>C | CA349407030 | TTN,TTN-AS1 | c.98398T>G (p.Ser32800Ala) c.79483T>G (p.Ser26495Ala) c.79282T>G (p.Ser26428Ala) c.78907T>G (p.Ser26303Ala) c.106102T>G (p.Ser35368Ala) c.101179T>G (p.Ser33727Ala) n.446+6877A>C n.220-5219A>C c.105199T>G (p.Ser35067Ala) c.79093T>G (p.Ser26365Ala) c.78952T>G (p.Ser26318Ala) c.104995T>G (p.Ser34999Ala) c.100393T>G (p.Ser33465Ala) c.100390T>G (p.Ser33464Ala) c.97432T>G (p.Ser32478Ala) c.79048T>G (p.Ser26350Ala) c.100543T>G (p.Ser33515Ala) c.100540T>G (p.Ser33514Ala) c.99973T>G (p.Ser33325Ala) c.97315T>G (p.Ser32439Ala) c.97234T>G (p.Ser32412Ala) c.78997T>G (p.Ser26333Ala) c.68851T>G (p.Ser22951Ala) | |
2 | g.178530513A>G | CA349407031 | TTN,TTN-AS1 | c.98398T>C (p.Ser32800Pro) c.79483T>C (p.Ser26495Pro) c.79282T>C (p.Ser26428Pro) c.78907T>C (p.Ser26303Pro) c.106102T>C (p.Ser35368Pro) c.101179T>C (p.Ser33727Pro) n.446+6877A>G n.220-5219A>G c.105199T>C (p.Ser35067Pro) c.79093T>C (p.Ser26365Pro) c.78952T>C (p.Ser26318Pro) c.104995T>C (p.Ser34999Pro) c.100393T>C (p.Ser33465Pro) c.100390T>C (p.Ser33464Pro) c.97432T>C (p.Ser32478Pro) c.79048T>C (p.Ser26350Pro) c.100543T>C (p.Ser33515Pro) c.100540T>C (p.Ser33514Pro) c.99973T>C (p.Ser33325Pro) c.97315T>C (p.Ser32439Pro) c.97234T>C (p.Ser32412Pro) c.78997T>C (p.Ser26333Pro) c.68851T>C (p.Ser22951Pro) | ClinVar dbSNP |
2 | g.178530513A>T | CA349407032 | TTN,TTN-AS1 | c.98398T>A (p.Ser32800Thr) c.79483T>A (p.Ser26495Thr) c.79282T>A (p.Ser26428Thr) c.78907T>A (p.Ser26303Thr) c.106102T>A (p.Ser35368Thr) c.101179T>A (p.Ser33727Thr) n.446+6877A>T n.220-5219A>T c.105199T>A (p.Ser35067Thr) c.79093T>A (p.Ser26365Thr) c.78952T>A (p.Ser26318Thr) c.104995T>A (p.Ser34999Thr) c.100393T>A (p.Ser33465Thr) c.100390T>A (p.Ser33464Thr) c.97432T>A (p.Ser32478Thr) c.79048T>A (p.Ser26350Thr) c.100543T>A (p.Ser33515Thr) c.100540T>A (p.Ser33514Thr) c.99973T>A (p.Ser33325Thr) c.97315T>A (p.Ser32439Thr) c.97234T>A (p.Ser32412Thr) c.78997T>A (p.Ser26333Thr) c.68851T>A (p.Ser22951Thr) | |
2 | g.178530514C>A | CA430235120 | TTN,TTN-AS1 | c.98397G>T (p.Thr32799=) c.79482G>T (p.Thr26494=) c.79281G>T (p.Thr26427=) c.78906G>T (p.Thr26302=) c.106101G>T (p.Thr35367=) c.101178G>T (p.Thr33726=) n.446+6878C>A n.220-5218C>A c.105198G>T (p.Thr35066=) c.79092G>T (p.Thr26364=) c.78951G>T (p.Thr26317=) c.104994G>T (p.Thr34998=) c.100392G>T (p.Thr33464=) c.100389G>T (p.Thr33463=) c.97431G>T (p.Thr32477=) c.79047G>T (p.Thr26349=) c.100542G>T (p.Thr33514=) c.100539G>T (p.Thr33513=) c.99972G>T (p.Thr33324=) c.97314G>T (p.Thr32438=) c.97233G>T (p.Thr32411=) c.78996G>T (p.Thr26332=) c.68850G>T (p.Thr22950=) | dbSNP |
2 | g.178530514C= | CA1310514706 | TTN,TTN-AS1 | c.98397G= (p.Thr32799=) c.79482G= (p.Thr26494=) c.79281G= (p.Thr26427=) c.78906G= (p.Thr26302=) c.106101G= (p.Thr35367=) c.101178G= (p.Thr33726=) n.446+6878C= n.220-5218C= c.105198G= (p.Thr35066=) c.79092G= (p.Thr26364=) c.78951G= (p.Thr26317=) c.104994G= (p.Thr34998=) c.100392G= (p.Thr33464=) c.100389G= (p.Thr33463=) c.97431G= (p.Thr32477=) c.79047G= (p.Thr26349=) c.100542G= (p.Thr33514=) c.100539G= (p.Thr33513=) c.99972G= (p.Thr33324=) c.97314G= (p.Thr32438=) c.97233G= (p.Thr32411=) c.78996G= (p.Thr26332=) c.68850G= (p.Thr22950=) | |
2 | g.178530514C>G | CA430235121 | TTN,TTN-AS1 | c.98397G>C (p.Thr32799=) c.79482G>C (p.Thr26494=) c.79281G>C (p.Thr26427=) c.78906G>C (p.Thr26302=) c.106101G>C (p.Thr35367=) c.101178G>C (p.Thr33726=) n.446+6878C>G n.220-5218C>G c.105198G>C (p.Thr35066=) c.79092G>C (p.Thr26364=) c.78951G>C (p.Thr26317=) c.104994G>C (p.Thr34998=) c.100392G>C (p.Thr33464=) c.100389G>C (p.Thr33463=) c.97431G>C (p.Thr32477=) c.79047G>C (p.Thr26349=) c.100542G>C (p.Thr33514=) c.100539G>C (p.Thr33513=) c.99972G>C (p.Thr33324=) c.97314G>C (p.Thr32438=) c.97233G>C (p.Thr32411=) c.78996G>C (p.Thr26332=) c.68850G>C (p.Thr22950=) | |
2 | g.178530514C>T | CA1985164 | TTN,TTN-AS1 | c.98397G>A (p.Thr32799=) c.79482G>A (p.Thr26494=) c.79281G>A (p.Thr26427=) c.78906G>A (p.Thr26302=) c.106101G>A (p.Thr35367=) c.101178G>A (p.Thr33726=) n.446+6878C>T n.220-5218C>T c.105198G>A (p.Thr35066=) c.79092G>A (p.Thr26364=) c.78951G>A (p.Thr26317=) c.104994G>A (p.Thr34998=) c.100392G>A (p.Thr33464=) c.100389G>A (p.Thr33463=) c.97431G>A (p.Thr32477=) c.79047G>A (p.Thr26349=) c.100542G>A (p.Thr33514=) c.100539G>A (p.Thr33513=) c.99972G>A (p.Thr33324=) c.97314G>A (p.Thr32438=) c.97233G>A (p.Thr32411=) c.78996G>A (p.Thr26332=) c.68850G>A (p.Thr22950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530515G>A | CA1985165 | TTN,TTN-AS1 | c.98396C>T (p.Thr32799Met) c.79481C>T (p.Thr26494Met) c.79280C>T (p.Thr26427Met) c.78905C>T (p.Thr26302Met) c.106100C>T (p.Thr35367Met) c.101177C>T (p.Thr33726Met) n.446+6879G>A n.220-5217G>A c.105197C>T (p.Thr35066Met) c.79091C>T (p.Thr26364Met) c.78950C>T (p.Thr26317Met) c.104993C>T (p.Thr34998Met) c.100391C>T (p.Thr33464Met) c.100388C>T (p.Thr33463Met) c.97430C>T (p.Thr32477Met) c.79046C>T (p.Thr26349Met) c.100541C>T (p.Thr33514Met) c.100538C>T (p.Thr33513Met) c.99971C>T (p.Thr33324Met) c.97313C>T (p.Thr32438Met) c.97232C>T (p.Thr32411Met) c.78995C>T (p.Thr26332Met) c.68849C>T (p.Thr22950Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530515G>C | CA349407033 | TTN,TTN-AS1 | c.98396C>G (p.Thr32799Arg) c.79481C>G (p.Thr26494Arg) c.79280C>G (p.Thr26427Arg) c.78905C>G (p.Thr26302Arg) c.106100C>G (p.Thr35367Arg) c.101177C>G (p.Thr33726Arg) n.446+6879G>C n.220-5217G>C c.105197C>G (p.Thr35066Arg) c.79091C>G (p.Thr26364Arg) c.78950C>G (p.Thr26317Arg) c.104993C>G (p.Thr34998Arg) c.100391C>G (p.Thr33464Arg) c.100388C>G (p.Thr33463Arg) c.97430C>G (p.Thr32477Arg) c.79046C>G (p.Thr26349Arg) c.100541C>G (p.Thr33514Arg) c.100538C>G (p.Thr33513Arg) c.99971C>G (p.Thr33324Arg) c.97313C>G (p.Thr32438Arg) c.97232C>G (p.Thr32411Arg) c.78995C>G (p.Thr26332Arg) c.68849C>G (p.Thr22950Arg) | |
2 | g.178530515G= | CA1310514708 | TTN,TTN-AS1 | c.98396C= (p.Thr32799=) c.79481C= (p.Thr26494=) c.79280C= (p.Thr26427=) c.78905C= (p.Thr26302=) c.106100C= (p.Thr35367=) c.101177C= (p.Thr33726=) n.446+6879G= n.220-5217G= c.105197C= (p.Thr35066=) c.79091C= (p.Thr26364=) c.78950C= (p.Thr26317=) c.104993C= (p.Thr34998=) c.100391C= (p.Thr33464=) c.100388C= (p.Thr33463=) c.97430C= (p.Thr32477=) c.79046C= (p.Thr26349=) c.100541C= (p.Thr33514=) c.100538C= (p.Thr33513=) c.99971C= (p.Thr33324=) c.97313C= (p.Thr32438=) c.97232C= (p.Thr32411=) c.78995C= (p.Thr26332=) c.68849C= (p.Thr22950=) | |
2 | g.178530515G>T | CA349407034 | TTN,TTN-AS1 | c.98396C>A (p.Thr32799Lys) c.79481C>A (p.Thr26494Lys) c.79280C>A (p.Thr26427Lys) c.78905C>A (p.Thr26302Lys) c.106100C>A (p.Thr35367Lys) c.101177C>A (p.Thr33726Lys) n.446+6879G>T n.220-5217G>T c.105197C>A (p.Thr35066Lys) c.79091C>A (p.Thr26364Lys) c.78950C>A (p.Thr26317Lys) c.104993C>A (p.Thr34998Lys) c.100391C>A (p.Thr33464Lys) c.100388C>A (p.Thr33463Lys) c.97430C>A (p.Thr32477Lys) c.79046C>A (p.Thr26349Lys) c.100541C>A (p.Thr33514Lys) c.100538C>A (p.Thr33513Lys) c.99971C>A (p.Thr33324Lys) c.97313C>A (p.Thr32438Lys) c.97232C>A (p.Thr32411Lys) c.78995C>A (p.Thr26332Lys) c.68849C>A (p.Thr22950Lys) | |
2 | g.178530515dup | CA2662125860 | TTN,TTN-AS1 | c.98396dup (p.Ser32800ValfsTer2) c.79481dup (p.Ser26495ValfsTer2) c.79280dup (p.Ser26428ValfsTer2) c.78905dup (p.Ser26303ValfsTer2) c.106100dup (p.Ser35368ValfsTer2) c.101177dup (p.Ser33727ValfsTer2) n.446+6879dup n.220-5217dup c.105197dup (p.Ser35067ValfsTer2) c.79091dup (p.Ser26365ValfsTer2) c.78950dup (p.Ser26318ValfsTer2) c.104993dup (p.Ser34999ValfsTer2) c.100391dup (p.Ser33465ValfsTer2) c.100388dup (p.Ser33464ValfsTer2) c.97430dup (p.Ser32478ValfsTer2) c.79046dup (p.Ser26350ValfsTer2) c.100541dup (p.Ser33515ValfsTer2) c.100538dup (p.Ser33514ValfsTer2) c.99971dup (p.Ser33325ValfsTer2) c.97313dup (p.Ser32439ValfsTer2) c.97232dup (p.Ser32412ValfsTer2) c.78995dup (p.Ser26333ValfsTer2) c.68849dup (p.Ser22951ValfsTer2) | gnomAD v4 |
2 | g.178530516T>A | CA349407035 | TTN,TTN-AS1 | c.98395A>T (p.Thr32799Ser) c.79480A>T (p.Thr26494Ser) c.79279A>T (p.Thr26427Ser) c.78904A>T (p.Thr26302Ser) c.106099A>T (p.Thr35367Ser) c.101176A>T (p.Thr33726Ser) n.446+6880T>A n.220-5216T>A c.105196A>T (p.Thr35066Ser) c.79090A>T (p.Thr26364Ser) c.78949A>T (p.Thr26317Ser) c.104992A>T (p.Thr34998Ser) c.100390A>T (p.Thr33464Ser) c.100387A>T (p.Thr33463Ser) c.97429A>T (p.Thr32477Ser) c.79045A>T (p.Thr26349Ser) c.100540A>T (p.Thr33514Ser) c.100537A>T (p.Thr33513Ser) c.99970A>T (p.Thr33324Ser) c.97312A>T (p.Thr32438Ser) c.97231A>T (p.Thr32411Ser) c.78994A>T (p.Thr26332Ser) c.68848A>T (p.Thr22950Ser) | |
2 | g.178530516T>C | CA349407036 | TTN,TTN-AS1 | c.98395A>G (p.Thr32799Ala) c.79480A>G (p.Thr26494Ala) c.79279A>G (p.Thr26427Ala) c.78904A>G (p.Thr26302Ala) c.106099A>G (p.Thr35367Ala) c.101176A>G (p.Thr33726Ala) n.446+6880T>C n.220-5216T>C c.105196A>G (p.Thr35066Ala) c.79090A>G (p.Thr26364Ala) c.78949A>G (p.Thr26317Ala) c.104992A>G (p.Thr34998Ala) c.100390A>G (p.Thr33464Ala) c.100387A>G (p.Thr33463Ala) c.97429A>G (p.Thr32477Ala) c.79045A>G (p.Thr26349Ala) c.100540A>G (p.Thr33514Ala) c.100537A>G (p.Thr33513Ala) c.99970A>G (p.Thr33324Ala) c.97312A>G (p.Thr32438Ala) c.97231A>G (p.Thr32411Ala) c.78994A>G (p.Thr26332Ala) c.68848A>G (p.Thr22950Ala) | |
2 | g.178530516T>G | CA349407037 | TTN,TTN-AS1 | c.98395A>C (p.Thr32799Pro) c.79480A>C (p.Thr26494Pro) c.79279A>C (p.Thr26427Pro) c.78904A>C (p.Thr26302Pro) c.106099A>C (p.Thr35367Pro) c.101176A>C (p.Thr33726Pro) n.446+6880T>G n.220-5216T>G c.105196A>C (p.Thr35066Pro) c.79090A>C (p.Thr26364Pro) c.78949A>C (p.Thr26317Pro) c.104992A>C (p.Thr34998Pro) c.100390A>C (p.Thr33464Pro) c.100387A>C (p.Thr33463Pro) c.97429A>C (p.Thr32477Pro) c.79045A>C (p.Thr26349Pro) c.100540A>C (p.Thr33514Pro) c.100537A>C (p.Thr33513Pro) c.99970A>C (p.Thr33324Pro) c.97312A>C (p.Thr32438Pro) c.97231A>C (p.Thr32411Pro) c.78994A>C (p.Thr26332Pro) c.68848A>C (p.Thr22950Pro) | |
2 | g.178530517T>A | CA430235126 | TTN,TTN-AS1 | c.98394A>T (p.Gly32798=) c.79479A>T (p.Gly26493=) c.79278A>T (p.Gly26426=) c.78903A>T (p.Gly26301=) c.106098A>T (p.Gly35366=) c.101175A>T (p.Gly33725=) n.446+6881T>A n.220-5215T>A c.105195A>T (p.Gly35065=) c.79089A>T (p.Gly26363=) c.78948A>T (p.Gly26316=) c.104991A>T (p.Gly34997=) c.100389A>T (p.Gly33463=) c.100386A>T (p.Gly33462=) c.97428A>T (p.Gly32476=) c.79044A>T (p.Gly26348=) c.100539A>T (p.Gly33513=) c.100536A>T (p.Gly33512=) c.99969A>T (p.Gly33323=) c.97311A>T (p.Gly32437=) c.97230A>T (p.Gly32410=) c.78993A>T (p.Gly26331=) c.68847A>T (p.Gly22949=) | |
2 | g.178530517T>C | CA430235128 | TTN,TTN-AS1 | c.98394A>G (p.Gly32798=) c.79479A>G (p.Gly26493=) c.79278A>G (p.Gly26426=) c.78903A>G (p.Gly26301=) c.106098A>G (p.Gly35366=) c.101175A>G (p.Gly33725=) n.446+6881T>C n.220-5215T>C c.105195A>G (p.Gly35065=) c.79089A>G (p.Gly26363=) c.78948A>G (p.Gly26316=) c.104991A>G (p.Gly34997=) c.100389A>G (p.Gly33463=) c.100386A>G (p.Gly33462=) c.97428A>G (p.Gly32476=) c.79044A>G (p.Gly26348=) c.100539A>G (p.Gly33513=) c.100536A>G (p.Gly33512=) c.99969A>G (p.Gly33323=) c.97311A>G (p.Gly32437=) c.97230A>G (p.Gly32410=) c.78993A>G (p.Gly26331=) c.68847A>G (p.Gly22949=) | |
2 | g.178530517T>G | CA430235127 | TTN,TTN-AS1 | c.98394A>C (p.Gly32798=) c.79479A>C (p.Gly26493=) c.79278A>C (p.Gly26426=) c.78903A>C (p.Gly26301=) c.106098A>C (p.Gly35366=) c.101175A>C (p.Gly33725=) n.446+6881T>G n.220-5215T>G c.105195A>C (p.Gly35065=) c.79089A>C (p.Gly26363=) c.78948A>C (p.Gly26316=) c.104991A>C (p.Gly34997=) c.100389A>C (p.Gly33463=) c.100386A>C (p.Gly33462=) c.97428A>C (p.Gly32476=) c.79044A>C (p.Gly26348=) c.100539A>C (p.Gly33513=) c.100536A>C (p.Gly33512=) c.99969A>C (p.Gly33323=) c.97311A>C (p.Gly32437=) c.97230A>C (p.Gly32410=) c.78993A>C (p.Gly26331=) c.68847A>C (p.Gly22949=) | |
2 | g.178530518C>A | CA349407038 | TTN,TTN-AS1 | c.98393G>T (p.Gly32798Val) c.79478G>T (p.Gly26493Val) c.79277G>T (p.Gly26426Val) c.78902G>T (p.Gly26301Val) c.106097G>T (p.Gly35366Val) c.101174G>T (p.Gly33725Val) n.446+6882C>A n.220-5214C>A c.105194G>T (p.Gly35065Val) c.79088G>T (p.Gly26363Val) c.78947G>T (p.Gly26316Val) c.104990G>T (p.Gly34997Val) c.100388G>T (p.Gly33463Val) c.100385G>T (p.Gly33462Val) c.97427G>T (p.Gly32476Val) c.79043G>T (p.Gly26348Val) c.100538G>T (p.Gly33513Val) c.100535G>T (p.Gly33512Val) c.99968G>T (p.Gly33323Val) c.97310G>T (p.Gly32437Val) c.97229G>T (p.Gly32410Val) c.78992G>T (p.Gly26331Val) c.68846G>T (p.Gly22949Val) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530518C>G | CA349407039 | TTN,TTN-AS1 | c.98393G>C (p.Gly32798Ala) c.79478G>C (p.Gly26493Ala) c.79277G>C (p.Gly26426Ala) c.78902G>C (p.Gly26301Ala) c.106097G>C (p.Gly35366Ala) c.101174G>C (p.Gly33725Ala) n.446+6882C>G n.220-5214C>G c.105194G>C (p.Gly35065Ala) c.79088G>C (p.Gly26363Ala) c.78947G>C (p.Gly26316Ala) c.104990G>C (p.Gly34997Ala) c.100388G>C (p.Gly33463Ala) c.100385G>C (p.Gly33462Ala) c.97427G>C (p.Gly32476Ala) c.79043G>C (p.Gly26348Ala) c.100538G>C (p.Gly33513Ala) c.100535G>C (p.Gly33512Ala) c.99968G>C (p.Gly33323Ala) c.97310G>C (p.Gly32437Ala) c.97229G>C (p.Gly32410Ala) c.78992G>C (p.Gly26331Ala) c.68846G>C (p.Gly22949Ala) | gnomAD v3 gnomAD v4 |
2 | g.178530518C>T | CA349407040 | TTN,TTN-AS1 | c.98393G>A (p.Gly32798Glu) c.79478G>A (p.Gly26493Glu) c.79277G>A (p.Gly26426Glu) c.78902G>A (p.Gly26301Glu) c.106097G>A (p.Gly35366Glu) c.101174G>A (p.Gly33725Glu) n.446+6882C>T n.220-5214C>T c.105194G>A (p.Gly35065Glu) c.79088G>A (p.Gly26363Glu) c.78947G>A (p.Gly26316Glu) c.104990G>A (p.Gly34997Glu) c.100388G>A (p.Gly33463Glu) c.100385G>A (p.Gly33462Glu) c.97427G>A (p.Gly32476Glu) c.79043G>A (p.Gly26348Glu) c.100538G>A (p.Gly33513Glu) c.100535G>A (p.Gly33512Glu) c.99968G>A (p.Gly33323Glu) c.97310G>A (p.Gly32437Glu) c.97229G>A (p.Gly32410Glu) c.78992G>A (p.Gly26331Glu) c.68846G>A (p.Gly22949Glu) | gnomAD v4 |
2 | g.178530519C>A | CA349407041 | TTN,TTN-AS1 | c.98392G>T (p.Gly32798Ter) c.79477G>T (p.Gly26493Ter) c.79276G>T (p.Gly26426Ter) c.78901G>T (p.Gly26301Ter) c.106096G>T (p.Gly35366Ter) c.101173G>T (p.Gly33725Ter) n.446+6883C>A n.220-5213C>A c.105193G>T (p.Gly35065Ter) c.79087G>T (p.Gly26363Ter) c.78946G>T (p.Gly26316Ter) c.104989G>T (p.Gly34997Ter) c.100387G>T (p.Gly33463Ter) c.100384G>T (p.Gly33462Ter) c.97426G>T (p.Gly32476Ter) c.79042G>T (p.Gly26348Ter) c.100537G>T (p.Gly33513Ter) c.100534G>T (p.Gly33512Ter) c.99967G>T (p.Gly33323Ter) c.97309G>T (p.Gly32437Ter) c.97228G>T (p.Gly32410Ter) c.78991G>T (p.Gly26331Ter) c.68845G>T (p.Gly22949Ter) | |
2 | g.178530519C= | CA1310514711 | TTN,TTN-AS1 | c.98392G= (p.Gly32798=) c.79477G= (p.Gly26493=) c.79276G= (p.Gly26426=) c.78901G= (p.Gly26301=) c.106096G= (p.Gly35366=) c.101173G= (p.Gly33725=) n.446+6883C= n.220-5213C= c.105193G= (p.Gly35065=) c.79087G= (p.Gly26363=) c.78946G= (p.Gly26316=) c.104989G= (p.Gly34997=) c.100387G= (p.Gly33463=) c.100384G= (p.Gly33462=) c.97426G= (p.Gly32476=) c.79042G= (p.Gly26348=) c.100537G= (p.Gly33513=) c.100534G= (p.Gly33512=) c.99967G= (p.Gly33323=) c.97309G= (p.Gly32437=) c.97228G= (p.Gly32410=) c.78991G= (p.Gly26331=) c.68845G= (p.Gly22949=) | |
2 | g.178530519C>G | CA349407042 | TTN,TTN-AS1 | c.98392G>C (p.Gly32798Arg) c.79477G>C (p.Gly26493Arg) c.79276G>C (p.Gly26426Arg) c.78901G>C (p.Gly26301Arg) c.106096G>C (p.Gly35366Arg) c.101173G>C (p.Gly33725Arg) n.446+6883C>G n.220-5213C>G c.105193G>C (p.Gly35065Arg) c.79087G>C (p.Gly26363Arg) c.78946G>C (p.Gly26316Arg) c.104989G>C (p.Gly34997Arg) c.100387G>C (p.Gly33463Arg) c.100384G>C (p.Gly33462Arg) c.97426G>C (p.Gly32476Arg) c.79042G>C (p.Gly26348Arg) c.100537G>C (p.Gly33513Arg) c.100534G>C (p.Gly33512Arg) c.99967G>C (p.Gly33323Arg) c.97309G>C (p.Gly32437Arg) c.97228G>C (p.Gly32410Arg) c.78991G>C (p.Gly26331Arg) c.68845G>C (p.Gly22949Arg) | |
2 | g.178530519C>T | CA349407043 | TTN,TTN-AS1 | c.98392G>A (p.Gly32798Arg) c.79477G>A (p.Gly26493Arg) c.79276G>A (p.Gly26426Arg) c.78901G>A (p.Gly26301Arg) c.106096G>A (p.Gly35366Arg) c.101173G>A (p.Gly33725Arg) n.446+6883C>T n.220-5213C>T c.105193G>A (p.Gly35065Arg) c.79087G>A (p.Gly26363Arg) c.78946G>A (p.Gly26316Arg) c.104989G>A (p.Gly34997Arg) c.100387G>A (p.Gly33463Arg) c.100384G>A (p.Gly33462Arg) c.97426G>A (p.Gly32476Arg) c.79042G>A (p.Gly26348Arg) c.100537G>A (p.Gly33513Arg) c.100534G>A (p.Gly33512Arg) c.99967G>A (p.Gly33323Arg) c.97309G>A (p.Gly32437Arg) c.97228G>A (p.Gly32410Arg) c.78991G>A (p.Gly26331Arg) c.68845G>A (p.Gly22949Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530520A>C | CA430235133 | TTN,TTN-AS1 | c.98391T>G (p.Gly32797=) c.79476T>G (p.Gly26492=) c.79275T>G (p.Gly26425=) c.78900T>G (p.Gly26300=) c.106095T>G (p.Gly35365=) c.101172T>G (p.Gly33724=) n.446+6884A>C n.220-5212A>C c.105192T>G (p.Gly35064=) c.79086T>G (p.Gly26362=) c.78945T>G (p.Gly26315=) c.104988T>G (p.Gly34996=) c.100386T>G (p.Gly33462=) c.100383T>G (p.Gly33461=) c.97425T>G (p.Gly32475=) c.79041T>G (p.Gly26347=) c.100536T>G (p.Gly33512=) c.100533T>G (p.Gly33511=) c.99966T>G (p.Gly33322=) c.97308T>G (p.Gly32436=) c.97227T>G (p.Gly32409=) c.78990T>G (p.Gly26330=) c.68844T>G (p.Gly22948=) | |
2 | g.178530520A>G | CA430235134 | TTN,TTN-AS1 | c.98391T>C (p.Gly32797=) c.79476T>C (p.Gly26492=) c.79275T>C (p.Gly26425=) c.78900T>C (p.Gly26300=) c.106095T>C (p.Gly35365=) c.101172T>C (p.Gly33724=) n.446+6884A>G n.220-5212A>G c.105192T>C (p.Gly35064=) c.79086T>C (p.Gly26362=) c.78945T>C (p.Gly26315=) c.104988T>C (p.Gly34996=) c.100386T>C (p.Gly33462=) c.100383T>C (p.Gly33461=) c.97425T>C (p.Gly32475=) c.79041T>C (p.Gly26347=) c.100536T>C (p.Gly33512=) c.100533T>C (p.Gly33511=) c.99966T>C (p.Gly33322=) c.97308T>C (p.Gly32436=) c.97227T>C (p.Gly32409=) c.78990T>C (p.Gly26330=) c.68844T>C (p.Gly22948=) | gnomAD v4 |
2 | g.178530520A>T | CA430235135 | TTN,TTN-AS1 | c.98391T>A (p.Gly32797=) c.79476T>A (p.Gly26492=) c.79275T>A (p.Gly26425=) c.78900T>A (p.Gly26300=) c.106095T>A (p.Gly35365=) c.101172T>A (p.Gly33724=) n.446+6884A>T n.220-5212A>T c.105192T>A (p.Gly35064=) c.79086T>A (p.Gly26362=) c.78945T>A (p.Gly26315=) c.104988T>A (p.Gly34996=) c.100386T>A (p.Gly33462=) c.100383T>A (p.Gly33461=) c.97425T>A (p.Gly32475=) c.79041T>A (p.Gly26347=) c.100536T>A (p.Gly33512=) c.100533T>A (p.Gly33511=) c.99966T>A (p.Gly33322=) c.97308T>A (p.Gly32436=) c.97227T>A (p.Gly32409=) c.78990T>A (p.Gly26330=) c.68844T>A (p.Gly22948=) | |
2 | g.178530521C>A | CA349407044 | TTN,TTN-AS1 | c.98390G>T (p.Gly32797Val) c.79475G>T (p.Gly26492Val) c.79274G>T (p.Gly26425Val) c.78899G>T (p.Gly26300Val) c.106094G>T (p.Gly35365Val) c.101171G>T (p.Gly33724Val) n.446+6885C>A n.220-5211C>A c.105191G>T (p.Gly35064Val) c.79085G>T (p.Gly26362Val) c.78944G>T (p.Gly26315Val) c.104987G>T (p.Gly34996Val) c.100385G>T (p.Gly33462Val) c.100382G>T (p.Gly33461Val) c.97424G>T (p.Gly32475Val) c.79040G>T (p.Gly26347Val) c.100535G>T (p.Gly33512Val) c.100532G>T (p.Gly33511Val) c.99965G>T (p.Gly33322Val) c.97307G>T (p.Gly32436Val) c.97226G>T (p.Gly32409Val) c.78989G>T (p.Gly26330Val) c.68843G>T (p.Gly22948Val) | |
2 | g.178530521C= | CA1310514712 | TTN,TTN-AS1 | c.98390G= (p.Gly32797=) c.79475G= (p.Gly26492=) c.79274G= (p.Gly26425=) c.78899G= (p.Gly26300=) c.106094G= (p.Gly35365=) c.101171G= (p.Gly33724=) n.446+6885C= n.220-5211C= c.105191G= (p.Gly35064=) c.79085G= (p.Gly26362=) c.78944G= (p.Gly26315=) c.104987G= (p.Gly34996=) c.100385G= (p.Gly33462=) c.100382G= (p.Gly33461=) c.97424G= (p.Gly32475=) c.79040G= (p.Gly26347=) c.100535G= (p.Gly33512=) c.100532G= (p.Gly33511=) c.99965G= (p.Gly33322=) c.97307G= (p.Gly32436=) c.97226G= (p.Gly32409=) c.78989G= (p.Gly26330=) c.68843G= (p.Gly22948=) | |
2 | g.178530521C>G | CA349407045 | TTN,TTN-AS1 | c.98390G>C (p.Gly32797Ala) c.79475G>C (p.Gly26492Ala) c.79274G>C (p.Gly26425Ala) c.78899G>C (p.Gly26300Ala) c.106094G>C (p.Gly35365Ala) c.101171G>C (p.Gly33724Ala) n.446+6885C>G n.220-5211C>G c.105191G>C (p.Gly35064Ala) c.79085G>C (p.Gly26362Ala) c.78944G>C (p.Gly26315Ala) c.104987G>C (p.Gly34996Ala) c.100385G>C (p.Gly33462Ala) c.100382G>C (p.Gly33461Ala) c.97424G>C (p.Gly32475Ala) c.79040G>C (p.Gly26347Ala) c.100535G>C (p.Gly33512Ala) c.100532G>C (p.Gly33511Ala) c.99965G>C (p.Gly33322Ala) c.97307G>C (p.Gly32436Ala) c.97226G>C (p.Gly32409Ala) c.78989G>C (p.Gly26330Ala) c.68843G>C (p.Gly22948Ala) | gnomAD v4 |
2 | g.178530521C>T | CA1985166 | TTN,TTN-AS1 | c.98390G>A (p.Gly32797Asp) c.79475G>A (p.Gly26492Asp) c.79274G>A (p.Gly26425Asp) c.78899G>A (p.Gly26300Asp) c.106094G>A (p.Gly35365Asp) c.101171G>A (p.Gly33724Asp) n.446+6885C>T n.220-5211C>T c.105191G>A (p.Gly35064Asp) c.79085G>A (p.Gly26362Asp) c.78944G>A (p.Gly26315Asp) c.104987G>A (p.Gly34996Asp) c.100385G>A (p.Gly33462Asp) c.100382G>A (p.Gly33461Asp) c.97424G>A (p.Gly32475Asp) c.79040G>A (p.Gly26347Asp) c.100535G>A (p.Gly33512Asp) c.100532G>A (p.Gly33511Asp) c.99965G>A (p.Gly33322Asp) c.97307G>A (p.Gly32436Asp) c.97226G>A (p.Gly32409Asp) c.78989G>A (p.Gly26330Asp) c.68843G>A (p.Gly22948Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530522C>A | CA349407046 | TTN,TTN-AS1 | c.98389G>T (p.Gly32797Cys) c.79474G>T (p.Gly26492Cys) c.79273G>T (p.Gly26425Cys) c.78898G>T (p.Gly26300Cys) c.106093G>T (p.Gly35365Cys) c.101170G>T (p.Gly33724Cys) n.446+6886C>A n.220-5210C>A c.105190G>T (p.Gly35064Cys) c.79084G>T (p.Gly26362Cys) c.78943G>T (p.Gly26315Cys) c.104986G>T (p.Gly34996Cys) c.100384G>T (p.Gly33462Cys) c.100381G>T (p.Gly33461Cys) c.97423G>T (p.Gly32475Cys) c.79039G>T (p.Gly26347Cys) c.100534G>T (p.Gly33512Cys) c.100531G>T (p.Gly33511Cys) c.99964G>T (p.Gly33322Cys) c.97306G>T (p.Gly32436Cys) c.97225G>T (p.Gly32409Cys) c.78988G>T (p.Gly26330Cys) c.68842G>T (p.Gly22948Cys) | |
2 | g.178530522C= | CA1310514714 | TTN,TTN-AS1 | c.98389G= (p.Gly32797=) c.79474G= (p.Gly26492=) c.79273G= (p.Gly26425=) c.78898G= (p.Gly26300=) c.106093G= (p.Gly35365=) c.101170G= (p.Gly33724=) n.446+6886C= n.220-5210C= c.105190G= (p.Gly35064=) c.79084G= (p.Gly26362=) c.78943G= (p.Gly26315=) c.104986G= (p.Gly34996=) c.100384G= (p.Gly33462=) c.100381G= (p.Gly33461=) c.97423G= (p.Gly32475=) c.79039G= (p.Gly26347=) c.100534G= (p.Gly33512=) c.100531G= (p.Gly33511=) c.99964G= (p.Gly33322=) c.97306G= (p.Gly32436=) c.97225G= (p.Gly32409=) c.78988G= (p.Gly26330=) c.68842G= (p.Gly22948=) | |
2 | g.178530522C>G | CA349407048 | TTN,TTN-AS1 | c.98389G>C (p.Gly32797Arg) c.79474G>C (p.Gly26492Arg) c.79273G>C (p.Gly26425Arg) c.78898G>C (p.Gly26300Arg) c.106093G>C (p.Gly35365Arg) c.101170G>C (p.Gly33724Arg) n.446+6886C>G n.220-5210C>G c.105190G>C (p.Gly35064Arg) c.79084G>C (p.Gly26362Arg) c.78943G>C (p.Gly26315Arg) c.104986G>C (p.Gly34996Arg) c.100384G>C (p.Gly33462Arg) c.100381G>C (p.Gly33461Arg) c.97423G>C (p.Gly32475Arg) c.79039G>C (p.Gly26347Arg) c.100534G>C (p.Gly33512Arg) c.100531G>C (p.Gly33511Arg) c.99964G>C (p.Gly33322Arg) c.97306G>C (p.Gly32436Arg) c.97225G>C (p.Gly32409Arg) c.78988G>C (p.Gly26330Arg) c.68842G>C (p.Gly22948Arg) | dbSNP gnomAD v2 |
2 | g.178530522C>T | CA349407047 | TTN,TTN-AS1 | c.98389G>A (p.Gly32797Ser) c.79474G>A (p.Gly26492Ser) c.79273G>A (p.Gly26425Ser) c.78898G>A (p.Gly26300Ser) c.106093G>A (p.Gly35365Ser) c.101170G>A (p.Gly33724Ser) n.446+6886C>T n.220-5210C>T c.105190G>A (p.Gly35064Ser) c.79084G>A (p.Gly26362Ser) c.78943G>A (p.Gly26315Ser) c.104986G>A (p.Gly34996Ser) c.100384G>A (p.Gly33462Ser) c.100381G>A (p.Gly33461Ser) c.97423G>A (p.Gly32475Ser) c.79039G>A (p.Gly26347Ser) c.100534G>A (p.Gly33512Ser) c.100531G>A (p.Gly33511Ser) c.99964G>A (p.Gly33322Ser) c.97306G>A (p.Gly32436Ser) c.97225G>A (p.Gly32409Ser) c.78988G>A (p.Gly26330Ser) c.68842G>A (p.Gly22948Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530523T>A | CA349407049 | TTN,TTN-AS1 | c.98388A>T (p.Glu32796Asp) c.79473A>T (p.Glu26491Asp) c.79272A>T (p.Glu26424Asp) c.78897A>T (p.Glu26299Asp) c.106092A>T (p.Glu35364Asp) c.101169A>T (p.Glu33723Asp) n.446+6887T>A n.220-5209T>A c.105189A>T (p.Glu35063Asp) c.79083A>T (p.Glu26361Asp) c.78942A>T (p.Glu26314Asp) c.104985A>T (p.Glu34995Asp) c.100383A>T (p.Glu33461Asp) c.100380A>T (p.Glu33460Asp) c.97422A>T (p.Glu32474Asp) c.79038A>T (p.Glu26346Asp) c.100533A>T (p.Glu33511Asp) c.100530A>T (p.Glu33510Asp) c.99963A>T (p.Glu33321Asp) c.97305A>T (p.Glu32435Asp) c.97224A>T (p.Glu32408Asp) c.78987A>T (p.Glu26329Asp) c.68841A>T (p.Glu22947Asp) | |
2 | g.178530523T>C | CA430235141 | TTN,TTN-AS1 | c.98388A>G (p.Glu32796=) c.79473A>G (p.Glu26491=) c.79272A>G (p.Glu26424=) c.78897A>G (p.Glu26299=) c.106092A>G (p.Glu35364=) c.101169A>G (p.Glu33723=) n.446+6887T>C n.220-5209T>C c.105189A>G (p.Glu35063=) c.79083A>G (p.Glu26361=) c.78942A>G (p.Glu26314=) c.104985A>G (p.Glu34995=) c.100383A>G (p.Glu33461=) c.100380A>G (p.Glu33460=) c.97422A>G (p.Glu32474=) c.79038A>G (p.Glu26346=) c.100533A>G (p.Glu33511=) c.100530A>G (p.Glu33510=) c.99963A>G (p.Glu33321=) c.97305A>G (p.Glu32435=) c.97224A>G (p.Glu32408=) c.78987A>G (p.Glu26329=) c.68841A>G (p.Glu22947=) | |
2 | g.178530523T>G | CA349407050 | TTN,TTN-AS1 | c.98388A>C (p.Glu32796Asp) c.79473A>C (p.Glu26491Asp) c.79272A>C (p.Glu26424Asp) c.78897A>C (p.Glu26299Asp) c.106092A>C (p.Glu35364Asp) c.101169A>C (p.Glu33723Asp) n.446+6887T>G n.220-5209T>G c.105189A>C (p.Glu35063Asp) c.79083A>C (p.Glu26361Asp) c.78942A>C (p.Glu26314Asp) c.104985A>C (p.Glu34995Asp) c.100383A>C (p.Glu33461Asp) c.100380A>C (p.Glu33460Asp) c.97422A>C (p.Glu32474Asp) c.79038A>C (p.Glu26346Asp) c.100533A>C (p.Glu33511Asp) c.100530A>C (p.Glu33510Asp) c.99963A>C (p.Glu33321Asp) c.97305A>C (p.Glu32435Asp) c.97224A>C (p.Glu32408Asp) c.78987A>C (p.Glu26329Asp) c.68841A>C (p.Glu22947Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530523T= | CA1310514717 | TTN,TTN-AS1 | c.98388A= (p.Glu32796=) c.79473A= (p.Glu26491=) c.79272A= (p.Glu26424=) c.78897A= (p.Glu26299=) c.106092A= (p.Glu35364=) c.101169A= (p.Glu33723=) n.446+6887T= n.220-5209T= c.105189A= (p.Glu35063=) c.79083A= (p.Glu26361=) c.78942A= (p.Glu26314=) c.104985A= (p.Glu34995=) c.100383A= (p.Glu33461=) c.100380A= (p.Glu33460=) c.97422A= (p.Glu32474=) c.79038A= (p.Glu26346=) c.100533A= (p.Glu33511=) c.100530A= (p.Glu33510=) c.99963A= (p.Glu33321=) c.97305A= (p.Glu32435=) c.97224A= (p.Glu32408=) c.78987A= (p.Glu26329=) c.68841A= (p.Glu22947=) | |
2 | g.178530524T>A | CA349407051 | TTN,TTN-AS1 | c.98387A>T (p.Glu32796Val) c.79472A>T (p.Glu26491Val) c.79271A>T (p.Glu26424Val) c.78896A>T (p.Glu26299Val) c.106091A>T (p.Glu35364Val) c.101168A>T (p.Glu33723Val) n.446+6888T>A n.220-5208T>A c.105188A>T (p.Glu35063Val) c.79082A>T (p.Glu26361Val) c.78941A>T (p.Glu26314Val) c.104984A>T (p.Glu34995Val) c.100382A>T (p.Glu33461Val) c.100379A>T (p.Glu33460Val) c.97421A>T (p.Glu32474Val) c.79037A>T (p.Glu26346Val) c.100532A>T (p.Glu33511Val) c.100529A>T (p.Glu33510Val) c.99962A>T (p.Glu33321Val) c.97304A>T (p.Glu32435Val) c.97223A>T (p.Glu32408Val) c.78986A>T (p.Glu26329Val) c.68840A>T (p.Glu22947Val) | |
2 | g.178530524T>C | CA349407052 | TTN,TTN-AS1 | c.98387A>G (p.Glu32796Gly) c.79472A>G (p.Glu26491Gly) c.79271A>G (p.Glu26424Gly) c.78896A>G (p.Glu26299Gly) c.106091A>G (p.Glu35364Gly) c.101168A>G (p.Glu33723Gly) n.446+6888T>C n.220-5208T>C c.105188A>G (p.Glu35063Gly) c.79082A>G (p.Glu26361Gly) c.78941A>G (p.Glu26314Gly) c.104984A>G (p.Glu34995Gly) c.100382A>G (p.Glu33461Gly) c.100379A>G (p.Glu33460Gly) c.97421A>G (p.Glu32474Gly) c.79037A>G (p.Glu26346Gly) c.100532A>G (p.Glu33511Gly) c.100529A>G (p.Glu33510Gly) c.99962A>G (p.Glu33321Gly) c.97304A>G (p.Glu32435Gly) c.97223A>G (p.Glu32408Gly) c.78986A>G (p.Glu26329Gly) c.68840A>G (p.Glu22947Gly) | ClinVar dbSNP |
2 | g.178530524T>G | CA349407053 | TTN,TTN-AS1 | c.98387A>C (p.Glu32796Ala) c.79472A>C (p.Glu26491Ala) c.79271A>C (p.Glu26424Ala) c.78896A>C (p.Glu26299Ala) c.106091A>C (p.Glu35364Ala) c.101168A>C (p.Glu33723Ala) n.446+6888T>G n.220-5208T>G c.105188A>C (p.Glu35063Ala) c.79082A>C (p.Glu26361Ala) c.78941A>C (p.Glu26314Ala) c.104984A>C (p.Glu34995Ala) c.100382A>C (p.Glu33461Ala) c.100379A>C (p.Glu33460Ala) c.97421A>C (p.Glu32474Ala) c.79037A>C (p.Glu26346Ala) c.100532A>C (p.Glu33511Ala) c.100529A>C (p.Glu33510Ala) c.99962A>C (p.Glu33321Ala) c.97304A>C (p.Glu32435Ala) c.97223A>C (p.Glu32408Ala) c.78986A>C (p.Glu26329Ala) c.68840A>C (p.Glu22947Ala) | |
2 | g.178530524T= | CA1310514718 | TTN,TTN-AS1 | c.98387A= (p.Glu32796=) c.79472A= (p.Glu26491=) c.79271A= (p.Glu26424=) c.78896A= (p.Glu26299=) c.106091A= (p.Glu35364=) c.101168A= (p.Glu33723=) n.446+6888T= n.220-5208T= c.105188A= (p.Glu35063=) c.79082A= (p.Glu26361=) c.78941A= (p.Glu26314=) c.104984A= (p.Glu34995=) c.100382A= (p.Glu33461=) c.100379A= (p.Glu33460=) c.97421A= (p.Glu32474=) c.79037A= (p.Glu26346=) c.100532A= (p.Glu33511=) c.100529A= (p.Glu33510=) c.99962A= (p.Glu33321=) c.97304A= (p.Glu32435=) c.97223A= (p.Glu32408=) c.78986A= (p.Glu26329=) c.68840A= (p.Glu22947=) | |
2 | g.178530525C>A | CA349407054 | TTN,TTN-AS1 | c.98386G>T (p.Glu32796Ter) c.79471G>T (p.Glu26491Ter) c.79270G>T (p.Glu26424Ter) c.78895G>T (p.Glu26299Ter) c.106090G>T (p.Glu35364Ter) c.101167G>T (p.Glu33723Ter) n.446+6889C>A n.220-5207C>A c.105187G>T (p.Glu35063Ter) c.79081G>T (p.Glu26361Ter) c.78940G>T (p.Glu26314Ter) c.104983G>T (p.Glu34995Ter) c.100381G>T (p.Glu33461Ter) c.100378G>T (p.Glu33460Ter) c.97420G>T (p.Glu32474Ter) c.79036G>T (p.Glu26346Ter) c.100531G>T (p.Glu33511Ter) c.100528G>T (p.Glu33510Ter) c.99961G>T (p.Glu33321Ter) c.97303G>T (p.Glu32435Ter) c.97222G>T (p.Glu32408Ter) c.78985G>T (p.Glu26329Ter) c.68839G>T (p.Glu22947Ter) | |
2 | g.178530525C>G | CA349407055 | TTN,TTN-AS1 | c.98386G>C (p.Glu32796Gln) c.79471G>C (p.Glu26491Gln) c.79270G>C (p.Glu26424Gln) c.78895G>C (p.Glu26299Gln) c.106090G>C (p.Glu35364Gln) c.101167G>C (p.Glu33723Gln) n.446+6889C>G n.220-5207C>G c.105187G>C (p.Glu35063Gln) c.79081G>C (p.Glu26361Gln) c.78940G>C (p.Glu26314Gln) c.104983G>C (p.Glu34995Gln) c.100381G>C (p.Glu33461Gln) c.100378G>C (p.Glu33460Gln) c.97420G>C (p.Glu32474Gln) c.79036G>C (p.Glu26346Gln) c.100531G>C (p.Glu33511Gln) c.100528G>C (p.Glu33510Gln) c.99961G>C (p.Glu33321Gln) c.97303G>C (p.Glu32435Gln) c.97222G>C (p.Glu32408Gln) c.78985G>C (p.Glu26329Gln) c.68839G>C (p.Glu22947Gln) | |
2 | g.178530525C>T | CA349407056 | TTN,TTN-AS1 | c.98386G>A (p.Glu32796Lys) c.79471G>A (p.Glu26491Lys) c.79270G>A (p.Glu26424Lys) c.78895G>A (p.Glu26299Lys) c.106090G>A (p.Glu35364Lys) c.101167G>A (p.Glu33723Lys) n.446+6889C>T n.220-5207C>T c.105187G>A (p.Glu35063Lys) c.79081G>A (p.Glu26361Lys) c.78940G>A (p.Glu26314Lys) c.104983G>A (p.Glu34995Lys) c.100381G>A (p.Glu33461Lys) c.100378G>A (p.Glu33460Lys) c.97420G>A (p.Glu32474Lys) c.79036G>A (p.Glu26346Lys) c.100531G>A (p.Glu33511Lys) c.100528G>A (p.Glu33510Lys) c.99961G>A (p.Glu33321Lys) c.97303G>A (p.Glu32435Lys) c.97222G>A (p.Glu32408Lys) c.78985G>A (p.Glu26329Lys) c.68839G>A (p.Glu22947Lys) | gnomAD v4 |
2 | g.178530526A>C | CA430235146 | TTN,TTN-AS1 | c.98385T>G (p.Gly32795=) c.79470T>G (p.Gly26490=) c.79269T>G (p.Gly26423=) c.78894T>G (p.Gly26298=) c.106089T>G (p.Gly35363=) c.101166T>G (p.Gly33722=) n.446+6890A>C n.220-5206A>C c.105186T>G (p.Gly35062=) c.79080T>G (p.Gly26360=) c.78939T>G (p.Gly26313=) c.104982T>G (p.Gly34994=) c.100380T>G (p.Gly33460=) c.100377T>G (p.Gly33459=) c.97419T>G (p.Gly32473=) c.79035T>G (p.Gly26345=) c.100530T>G (p.Gly33510=) c.100527T>G (p.Gly33509=) c.99960T>G (p.Gly33320=) c.97302T>G (p.Gly32434=) c.97221T>G (p.Gly32407=) c.78984T>G (p.Gly26328=) c.68838T>G (p.Gly22946=) | |
2 | g.178530526A>G | CA430235147 | TTN,TTN-AS1 | c.98385T>C (p.Gly32795=) c.79470T>C (p.Gly26490=) c.79269T>C (p.Gly26423=) c.78894T>C (p.Gly26298=) c.106089T>C (p.Gly35363=) c.101166T>C (p.Gly33722=) n.446+6890A>G n.220-5206A>G c.105186T>C (p.Gly35062=) c.79080T>C (p.Gly26360=) c.78939T>C (p.Gly26313=) c.104982T>C (p.Gly34994=) c.100380T>C (p.Gly33460=) c.100377T>C (p.Gly33459=) c.97419T>C (p.Gly32473=) c.79035T>C (p.Gly26345=) c.100530T>C (p.Gly33510=) c.100527T>C (p.Gly33509=) c.99960T>C (p.Gly33320=) c.97302T>C (p.Gly32434=) c.97221T>C (p.Gly32407=) c.78984T>C (p.Gly26328=) c.68838T>C (p.Gly22946=) | |
2 | g.178530526A>T | CA430235148 | TTN,TTN-AS1 | c.98385T>A (p.Gly32795=) c.79470T>A (p.Gly26490=) c.79269T>A (p.Gly26423=) c.78894T>A (p.Gly26298=) c.106089T>A (p.Gly35363=) c.101166T>A (p.Gly33722=) n.446+6890A>T n.220-5206A>T c.105186T>A (p.Gly35062=) c.79080T>A (p.Gly26360=) c.78939T>A (p.Gly26313=) c.104982T>A (p.Gly34994=) c.100380T>A (p.Gly33460=) c.100377T>A (p.Gly33459=) c.97419T>A (p.Gly32473=) c.79035T>A (p.Gly26345=) c.100530T>A (p.Gly33510=) c.100527T>A (p.Gly33509=) c.99960T>A (p.Gly33320=) c.97302T>A (p.Gly32434=) c.97221T>A (p.Gly32407=) c.78984T>A (p.Gly26328=) c.68838T>A (p.Gly22946=) | dbSNP |
2 | g.178530527C>A | CA349407057 | TTN,TTN-AS1 | c.98384G>T (p.Gly32795Val) c.79469G>T (p.Gly26490Val) c.79268G>T (p.Gly26423Val) c.78893G>T (p.Gly26298Val) c.106088G>T (p.Gly35363Val) c.101165G>T (p.Gly33722Val) n.446+6891C>A n.220-5205C>A c.105185G>T (p.Gly35062Val) c.79079G>T (p.Gly26360Val) c.78938G>T (p.Gly26313Val) c.104981G>T (p.Gly34994Val) c.100379G>T (p.Gly33460Val) c.100376G>T (p.Gly33459Val) c.97418G>T (p.Gly32473Val) c.79034G>T (p.Gly26345Val) c.100529G>T (p.Gly33510Val) c.100526G>T (p.Gly33509Val) c.99959G>T (p.Gly33320Val) c.97301G>T (p.Gly32434Val) c.97220G>T (p.Gly32407Val) c.78983G>T (p.Gly26328Val) c.68837G>T (p.Gly22946Val) | |
2 | g.178530527C>G | CA349407058 | TTN,TTN-AS1 | c.98384G>C (p.Gly32795Ala) c.79469G>C (p.Gly26490Ala) c.79268G>C (p.Gly26423Ala) c.78893G>C (p.Gly26298Ala) c.106088G>C (p.Gly35363Ala) c.101165G>C (p.Gly33722Ala) n.446+6891C>G n.220-5205C>G c.105185G>C (p.Gly35062Ala) c.79079G>C (p.Gly26360Ala) c.78938G>C (p.Gly26313Ala) c.104981G>C (p.Gly34994Ala) c.100379G>C (p.Gly33460Ala) c.100376G>C (p.Gly33459Ala) c.97418G>C (p.Gly32473Ala) c.79034G>C (p.Gly26345Ala) c.100529G>C (p.Gly33510Ala) c.100526G>C (p.Gly33509Ala) c.99959G>C (p.Gly33320Ala) c.97301G>C (p.Gly32434Ala) c.97220G>C (p.Gly32407Ala) c.78983G>C (p.Gly26328Ala) c.68837G>C (p.Gly22946Ala) | |
2 | g.178530527C>T | CA349407059 | TTN,TTN-AS1 | c.98384G>A (p.Gly32795Asp) c.79469G>A (p.Gly26490Asp) c.79268G>A (p.Gly26423Asp) c.78893G>A (p.Gly26298Asp) c.106088G>A (p.Gly35363Asp) c.101165G>A (p.Gly33722Asp) n.446+6891C>T n.220-5205C>T c.105185G>A (p.Gly35062Asp) c.79079G>A (p.Gly26360Asp) c.78938G>A (p.Gly26313Asp) c.104981G>A (p.Gly34994Asp) c.100379G>A (p.Gly33460Asp) c.100376G>A (p.Gly33459Asp) c.97418G>A (p.Gly32473Asp) c.79034G>A (p.Gly26345Asp) c.100529G>A (p.Gly33510Asp) c.100526G>A (p.Gly33509Asp) c.99959G>A (p.Gly33320Asp) c.97301G>A (p.Gly32434Asp) c.97220G>A (p.Gly32407Asp) c.78983G>A (p.Gly26328Asp) c.68837G>A (p.Gly22946Asp) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530528C>A | CA349407062 | TTN,TTN-AS1 | c.98383G>T (p.Gly32795Cys) c.79468G>T (p.Gly26490Cys) c.79267G>T (p.Gly26423Cys) c.78892G>T (p.Gly26298Cys) c.106087G>T (p.Gly35363Cys) c.101164G>T (p.Gly33722Cys) n.446+6892C>A n.220-5204C>A c.105184G>T (p.Gly35062Cys) c.79078G>T (p.Gly26360Cys) c.78937G>T (p.Gly26313Cys) c.104980G>T (p.Gly34994Cys) c.100378G>T (p.Gly33460Cys) c.100375G>T (p.Gly33459Cys) c.97417G>T (p.Gly32473Cys) c.79033G>T (p.Gly26345Cys) c.100528G>T (p.Gly33510Cys) c.100525G>T (p.Gly33509Cys) c.99958G>T (p.Gly33320Cys) c.97300G>T (p.Gly32434Cys) c.97219G>T (p.Gly32407Cys) c.78982G>T (p.Gly26328Cys) c.68836G>T (p.Gly22946Cys) | |
2 | g.178530528C= | CA1310514720 | TTN,TTN-AS1 | c.98383G= (p.Gly32795=) c.79468G= (p.Gly26490=) c.79267G= (p.Gly26423=) c.78892G= (p.Gly26298=) c.106087G= (p.Gly35363=) c.101164G= (p.Gly33722=) n.446+6892C= n.220-5204C= c.105184G= (p.Gly35062=) c.79078G= (p.Gly26360=) c.78937G= (p.Gly26313=) c.104980G= (p.Gly34994=) c.100378G= (p.Gly33460=) c.100375G= (p.Gly33459=) c.97417G= (p.Gly32473=) c.79033G= (p.Gly26345=) c.100528G= (p.Gly33510=) c.100525G= (p.Gly33509=) c.99958G= (p.Gly33320=) c.97300G= (p.Gly32434=) c.97219G= (p.Gly32407=) c.78982G= (p.Gly26328=) c.68836G= (p.Gly22946=) | |
2 | g.178530528C>G | CA349407060 | TTN,TTN-AS1 | c.98383G>C (p.Gly32795Arg) c.79468G>C (p.Gly26490Arg) c.79267G>C (p.Gly26423Arg) c.78892G>C (p.Gly26298Arg) c.106087G>C (p.Gly35363Arg) c.101164G>C (p.Gly33722Arg) n.446+6892C>G n.220-5204C>G c.105184G>C (p.Gly35062Arg) c.79078G>C (p.Gly26360Arg) c.78937G>C (p.Gly26313Arg) c.104980G>C (p.Gly34994Arg) c.100378G>C (p.Gly33460Arg) c.100375G>C (p.Gly33459Arg) c.97417G>C (p.Gly32473Arg) c.79033G>C (p.Gly26345Arg) c.100528G>C (p.Gly33510Arg) c.100525G>C (p.Gly33509Arg) c.99958G>C (p.Gly33320Arg) c.97300G>C (p.Gly32434Arg) c.97219G>C (p.Gly32407Arg) c.78982G>C (p.Gly26328Arg) c.68836G>C (p.Gly22946Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530528C>T | CA349407061 | TTN,TTN-AS1 | c.98383G>A (p.Gly32795Ser) c.79468G>A (p.Gly26490Ser) c.79267G>A (p.Gly26423Ser) c.78892G>A (p.Gly26298Ser) c.106087G>A (p.Gly35363Ser) c.101164G>A (p.Gly33722Ser) n.446+6892C>T n.220-5204C>T c.105184G>A (p.Gly35062Ser) c.79078G>A (p.Gly26360Ser) c.78937G>A (p.Gly26313Ser) c.104980G>A (p.Gly34994Ser) c.100378G>A (p.Gly33460Ser) c.100375G>A (p.Gly33459Ser) c.97417G>A (p.Gly32473Ser) c.79033G>A (p.Gly26345Ser) c.100528G>A (p.Gly33510Ser) c.100525G>A (p.Gly33509Ser) c.99958G>A (p.Gly33320Ser) c.97300G>A (p.Gly32434Ser) c.97219G>A (p.Gly32407Ser) c.78982G>A (p.Gly26328Ser) c.68836G>A (p.Gly22946Ser) | ClinVar |
2 | g.178530529A>C | CA430235152 | TTN,TTN-AS1 | c.98382T>G (p.Ser32794=) c.79467T>G (p.Ser26489=) c.79266T>G (p.Ser26422=) c.78891T>G (p.Ser26297=) c.106086T>G (p.Ser35362=) c.101163T>G (p.Ser33721=) n.446+6893A>C n.220-5203A>C c.105183T>G (p.Ser35061=) c.79077T>G (p.Ser26359=) c.78936T>G (p.Ser26312=) c.104979T>G (p.Ser34993=) c.100377T>G (p.Ser33459=) c.100374T>G (p.Ser33458=) c.97416T>G (p.Ser32472=) c.79032T>G (p.Ser26344=) c.100527T>G (p.Ser33509=) c.100524T>G (p.Ser33508=) c.99957T>G (p.Ser33319=) c.97299T>G (p.Ser32433=) c.97218T>G (p.Ser32406=) c.78981T>G (p.Ser26327=) c.68835T>G (p.Ser22945=) | |
2 | g.178530529A>G | CA430235154 | TTN,TTN-AS1 | c.98382T>C (p.Ser32794=) c.79467T>C (p.Ser26489=) c.79266T>C (p.Ser26422=) c.78891T>C (p.Ser26297=) c.106086T>C (p.Ser35362=) c.101163T>C (p.Ser33721=) n.446+6893A>G n.220-5203A>G c.105183T>C (p.Ser35061=) c.79077T>C (p.Ser26359=) c.78936T>C (p.Ser26312=) c.104979T>C (p.Ser34993=) c.100377T>C (p.Ser33459=) c.100374T>C (p.Ser33458=) c.97416T>C (p.Ser32472=) c.79032T>C (p.Ser26344=) c.100527T>C (p.Ser33509=) c.100524T>C (p.Ser33508=) c.99957T>C (p.Ser33319=) c.97299T>C (p.Ser32433=) c.97218T>C (p.Ser32406=) c.78981T>C (p.Ser26327=) c.68835T>C (p.Ser22945=) | ClinVar |
2 | g.178530529A>T | CA430235155 | TTN,TTN-AS1 | c.98382T>A (p.Ser32794=) c.79467T>A (p.Ser26489=) c.79266T>A (p.Ser26422=) c.78891T>A (p.Ser26297=) c.106086T>A (p.Ser35362=) c.101163T>A (p.Ser33721=) n.446+6893A>T n.220-5203A>T c.105183T>A (p.Ser35061=) c.79077T>A (p.Ser26359=) c.78936T>A (p.Ser26312=) c.104979T>A (p.Ser34993=) c.100377T>A (p.Ser33459=) c.100374T>A (p.Ser33458=) c.97416T>A (p.Ser32472=) c.79032T>A (p.Ser26344=) c.100527T>A (p.Ser33509=) c.100524T>A (p.Ser33508=) c.99957T>A (p.Ser33319=) c.97299T>A (p.Ser32433=) c.97218T>A (p.Ser32406=) c.78981T>A (p.Ser26327=) c.68835T>A (p.Ser22945=) | |
2 | g.178530530G>A | CA349407063 | TTN,TTN-AS1 | c.98381C>T (p.Ser32794Phe) c.79466C>T (p.Ser26489Phe) c.79265C>T (p.Ser26422Phe) c.78890C>T (p.Ser26297Phe) c.106085C>T (p.Ser35362Phe) c.101162C>T (p.Ser33721Phe) n.446+6894G>A n.220-5202G>A c.105182C>T (p.Ser35061Phe) c.79076C>T (p.Ser26359Phe) c.78935C>T (p.Ser26312Phe) c.104978C>T (p.Ser34993Phe) c.100376C>T (p.Ser33459Phe) c.100373C>T (p.Ser33458Phe) c.97415C>T (p.Ser32472Phe) c.79031C>T (p.Ser26344Phe) c.100526C>T (p.Ser33509Phe) c.100523C>T (p.Ser33508Phe) c.99956C>T (p.Ser33319Phe) c.97298C>T (p.Ser32433Phe) c.97217C>T (p.Ser32406Phe) c.78980C>T (p.Ser26327Phe) c.68834C>T (p.Ser22945Phe) | |
2 | g.178530530G>C | CA349407064 | TTN,TTN-AS1 | c.98381C>G (p.Ser32794Cys) c.79466C>G (p.Ser26489Cys) c.79265C>G (p.Ser26422Cys) c.78890C>G (p.Ser26297Cys) c.106085C>G (p.Ser35362Cys) c.101162C>G (p.Ser33721Cys) n.446+6894G>C n.220-5202G>C c.105182C>G (p.Ser35061Cys) c.79076C>G (p.Ser26359Cys) c.78935C>G (p.Ser26312Cys) c.104978C>G (p.Ser34993Cys) c.100376C>G (p.Ser33459Cys) c.100373C>G (p.Ser33458Cys) c.97415C>G (p.Ser32472Cys) c.79031C>G (p.Ser26344Cys) c.100526C>G (p.Ser33509Cys) c.100523C>G (p.Ser33508Cys) c.99956C>G (p.Ser33319Cys) c.97298C>G (p.Ser32433Cys) c.97217C>G (p.Ser32406Cys) c.78980C>G (p.Ser26327Cys) c.68834C>G (p.Ser22945Cys) | |
2 | g.178530530G>T | CA349407065 | TTN,TTN-AS1 | c.98381C>A (p.Ser32794Tyr) c.79466C>A (p.Ser26489Tyr) c.79265C>A (p.Ser26422Tyr) c.78890C>A (p.Ser26297Tyr) c.106085C>A (p.Ser35362Tyr) c.101162C>A (p.Ser33721Tyr) n.446+6894G>T n.220-5202G>T c.105182C>A (p.Ser35061Tyr) c.79076C>A (p.Ser26359Tyr) c.78935C>A (p.Ser26312Tyr) c.104978C>A (p.Ser34993Tyr) c.100376C>A (p.Ser33459Tyr) c.100373C>A (p.Ser33458Tyr) c.97415C>A (p.Ser32472Tyr) c.79031C>A (p.Ser26344Tyr) c.100526C>A (p.Ser33509Tyr) c.100523C>A (p.Ser33508Tyr) c.99956C>A (p.Ser33319Tyr) c.97298C>A (p.Ser32433Tyr) c.97217C>A (p.Ser32406Tyr) c.78980C>A (p.Ser26327Tyr) c.68834C>A (p.Ser22945Tyr) | |
2 | g.178530531A>C | CA349407066 | TTN,TTN-AS1 | c.98380T>G (p.Ser32794Ala) c.79465T>G (p.Ser26489Ala) c.79264T>G (p.Ser26422Ala) c.78889T>G (p.Ser26297Ala) c.106084T>G (p.Ser35362Ala) c.101161T>G (p.Ser33721Ala) n.446+6895A>C n.220-5201A>C c.105181T>G (p.Ser35061Ala) c.79075T>G (p.Ser26359Ala) c.78934T>G (p.Ser26312Ala) c.104977T>G (p.Ser34993Ala) c.100375T>G (p.Ser33459Ala) c.100372T>G (p.Ser33458Ala) c.97414T>G (p.Ser32472Ala) c.79030T>G (p.Ser26344Ala) c.100525T>G (p.Ser33509Ala) c.100522T>G (p.Ser33508Ala) c.99955T>G (p.Ser33319Ala) c.97297T>G (p.Ser32433Ala) c.97216T>G (p.Ser32406Ala) c.78979T>G (p.Ser26327Ala) c.68833T>G (p.Ser22945Ala) | |
2 | g.178530531A>G | CA349407067 | TTN,TTN-AS1 | c.98380T>C (p.Ser32794Pro) c.79465T>C (p.Ser26489Pro) c.79264T>C (p.Ser26422Pro) c.78889T>C (p.Ser26297Pro) c.106084T>C (p.Ser35362Pro) c.101161T>C (p.Ser33721Pro) n.446+6895A>G n.220-5201A>G c.105181T>C (p.Ser35061Pro) c.79075T>C (p.Ser26359Pro) c.78934T>C (p.Ser26312Pro) c.104977T>C (p.Ser34993Pro) c.100375T>C (p.Ser33459Pro) c.100372T>C (p.Ser33458Pro) c.97414T>C (p.Ser32472Pro) c.79030T>C (p.Ser26344Pro) c.100525T>C (p.Ser33509Pro) c.100522T>C (p.Ser33508Pro) c.99955T>C (p.Ser33319Pro) c.97297T>C (p.Ser32433Pro) c.97216T>C (p.Ser32406Pro) c.78979T>C (p.Ser26327Pro) c.68833T>C (p.Ser22945Pro) | |
2 | g.178530531A>T | CA349407068 | TTN,TTN-AS1 | c.98380T>A (p.Ser32794Thr) c.79465T>A (p.Ser26489Thr) c.79264T>A (p.Ser26422Thr) c.78889T>A (p.Ser26297Thr) c.106084T>A (p.Ser35362Thr) c.101161T>A (p.Ser33721Thr) n.446+6895A>T n.220-5201A>T c.105181T>A (p.Ser35061Thr) c.79075T>A (p.Ser26359Thr) c.78934T>A (p.Ser26312Thr) c.104977T>A (p.Ser34993Thr) c.100375T>A (p.Ser33459Thr) c.100372T>A (p.Ser33458Thr) c.97414T>A (p.Ser32472Thr) c.79030T>A (p.Ser26344Thr) c.100525T>A (p.Ser33509Thr) c.100522T>A (p.Ser33508Thr) c.99955T>A (p.Ser33319Thr) c.97297T>A (p.Ser32433Thr) c.97216T>A (p.Ser32406Thr) c.78979T>A (p.Ser26327Thr) c.68833T>A (p.Ser22945Thr) |