| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178601535_178601537delinsCTT | CA1310544160 | TTN,TTN-AS1 | c.47756_47758delinsAAG (p.Lys15919=) c.28841_28843delinsAAG (p.Lys9614=) c.28640_28642delinsAAG (p.Lys9547=) c.28265_28267delinsAAG (p.Lys9422=) c.55460_55462delinsAAG (p.Lys18487=) c.50537_50539delinsAAG (p.Lys16846=) n.682+3854_682+3856delinsCTT n.3917+868_3917+870delinsCTT c.54557_54559delinsAAG (p.Lys18186=) c.28451_28453delinsAAG (p.Lys9484=) c.28310_28312delinsAAG (p.Lys9437=) c.54353_54355delinsAAG (p.Lys18118=) c.49751_49753delinsAAG (p.Lys16584=) c.49748_49750delinsAAG (p.Lys16583=) c.46790_46792delinsAAG (p.Lys15597=) c.28406_28408delinsAAG (p.Lys9469=) c.49901_49903delinsAAG (p.Lys16634=) c.49898_49900delinsAAG (p.Lys16633=) c.49331_49333delinsAAG (p.Lys16444=) c.46673_46675delinsAAG (p.Lys15558=) c.46592_46594delinsAAG (p.Lys15531=) c.28355_28357delinsAAG (p.Lys9452=) c.18209_18211delinsAAG (p.Lys6070=) | |
| 2 | g.178601537_178601538del | CA16617369 | TTN,TTN-AS1 | c.47756_47757del (p.Lys15919SerfsTer3) c.28841_28842del (p.Lys9614SerfsTer3) c.28640_28641del (p.Lys9547SerfsTer3) c.28265_28266del (p.Lys9422SerfsTer3) c.55460_55461del (p.Lys18487SerfsTer3) c.50537_50538del (p.Lys16846SerfsTer3) n.682+3856_682+3857del n.3917+870_3917+871del c.54557_54558del (p.Lys18186SerfsTer3) c.28451_28452del (p.Lys9484SerfsTer3) c.28310_28311del (p.Lys9437SerfsTer3) c.54353_54354del (p.Lys18118SerfsTer3) c.49751_49752del (p.Lys16584SerfsTer3) c.49748_49749del (p.Lys16583SerfsTer3) c.46790_46791del (p.Lys15597SerfsTer3) c.28406_28407del (p.Lys9469SerfsTer3) c.49901_49902del (p.Lys16634SerfsTer3) c.49898_49899del (p.Lys16633SerfsTer3) c.49331_49332del (p.Lys16444SerfsTer3) c.46673_46674del (p.Lys15558SerfsTer3) c.46592_46593del (p.Lys15531SerfsTer3) c.28355_28356del (p.Lys9452SerfsTer3) c.18209_18210del (p.Lys6070SerfsTer3) | ClinVar dbSNP |
| 2 | g.178601537T>A | CA349541132 | TTN,TTN-AS1 | c.47756A>T (p.Lys15919Ile) c.28841A>T (p.Lys9614Ile) c.28640A>T (p.Lys9547Ile) c.28265A>T (p.Lys9422Ile) c.55460A>T (p.Lys18487Ile) c.50537A>T (p.Lys16846Ile) n.682+3856T>A n.3917+870T>A c.54557A>T (p.Lys18186Ile) c.28451A>T (p.Lys9484Ile) c.28310A>T (p.Lys9437Ile) c.54353A>T (p.Lys18118Ile) c.49751A>T (p.Lys16584Ile) c.49748A>T (p.Lys16583Ile) c.46790A>T (p.Lys15597Ile) c.28406A>T (p.Lys9469Ile) c.49901A>T (p.Lys16634Ile) c.49898A>T (p.Lys16633Ile) c.49331A>T (p.Lys16444Ile) c.46673A>T (p.Lys15558Ile) c.46592A>T (p.Lys15531Ile) c.28355A>T (p.Lys9452Ile) c.18209A>T (p.Lys6070Ile) | |
| 2 | g.178601537T>C | CA349541133 | TTN,TTN-AS1 | c.47756A>G (p.Lys15919Arg) c.28841A>G (p.Lys9614Arg) c.28640A>G (p.Lys9547Arg) c.28265A>G (p.Lys9422Arg) c.55460A>G (p.Lys18487Arg) c.50537A>G (p.Lys16846Arg) n.682+3856T>C n.3917+870T>C c.54557A>G (p.Lys18186Arg) c.28451A>G (p.Lys9484Arg) c.28310A>G (p.Lys9437Arg) c.54353A>G (p.Lys18118Arg) c.49751A>G (p.Lys16584Arg) c.49748A>G (p.Lys16583Arg) c.46790A>G (p.Lys15597Arg) c.28406A>G (p.Lys9469Arg) c.49901A>G (p.Lys16634Arg) c.49898A>G (p.Lys16633Arg) c.49331A>G (p.Lys16444Arg) c.46673A>G (p.Lys15558Arg) c.46592A>G (p.Lys15531Arg) c.28355A>G (p.Lys9452Arg) c.18209A>G (p.Lys6070Arg) | |
| 2 | g.178601537T>G | CA349541136 | TTN,TTN-AS1 | c.47756A>C (p.Lys15919Thr) c.28841A>C (p.Lys9614Thr) c.28640A>C (p.Lys9547Thr) c.28265A>C (p.Lys9422Thr) c.55460A>C (p.Lys18487Thr) c.50537A>C (p.Lys16846Thr) n.682+3856T>G n.3917+870T>G c.54557A>C (p.Lys18186Thr) c.28451A>C (p.Lys9484Thr) c.28310A>C (p.Lys9437Thr) c.54353A>C (p.Lys18118Thr) c.49751A>C (p.Lys16584Thr) c.49748A>C (p.Lys16583Thr) c.46790A>C (p.Lys15597Thr) c.28406A>C (p.Lys9469Thr) c.49901A>C (p.Lys16634Thr) c.49898A>C (p.Lys16633Thr) c.49331A>C (p.Lys16444Thr) c.46673A>C (p.Lys15558Thr) c.46592A>C (p.Lys15531Thr) c.28355A>C (p.Lys9452Thr) c.18209A>C (p.Lys6070Thr) | |
| 2 | g.178601538T>A | CA349541140 | TTN,TTN-AS1 | c.47755A>T (p.Lys15919Ter) c.28840A>T (p.Lys9614Ter) c.28639A>T (p.Lys9547Ter) c.28264A>T (p.Lys9422Ter) c.55459A>T (p.Lys18487Ter) c.50536A>T (p.Lys16846Ter) n.682+3857T>A n.3917+871T>A c.54556A>T (p.Lys18186Ter) c.28450A>T (p.Lys9484Ter) c.28309A>T (p.Lys9437Ter) c.54352A>T (p.Lys18118Ter) c.49750A>T (p.Lys16584Ter) c.49747A>T (p.Lys16583Ter) c.46789A>T (p.Lys15597Ter) c.28405A>T (p.Lys9469Ter) c.49900A>T (p.Lys16634Ter) c.49897A>T (p.Lys16633Ter) c.49330A>T (p.Lys16444Ter) c.46672A>T (p.Lys15558Ter) c.46591A>T (p.Lys15531Ter) c.28354A>T (p.Lys9452Ter) c.18208A>T (p.Lys6070Ter) | |
| 2 | g.178601538T>C | CA349541142 | TTN,TTN-AS1 | c.47755A>G (p.Lys15919Glu) c.28840A>G (p.Lys9614Glu) c.28639A>G (p.Lys9547Glu) c.28264A>G (p.Lys9422Glu) c.55459A>G (p.Lys18487Glu) c.50536A>G (p.Lys16846Glu) n.682+3857T>C n.3917+871T>C c.54556A>G (p.Lys18186Glu) c.28450A>G (p.Lys9484Glu) c.28309A>G (p.Lys9437Glu) c.54352A>G (p.Lys18118Glu) c.49750A>G (p.Lys16584Glu) c.49747A>G (p.Lys16583Glu) c.46789A>G (p.Lys15597Glu) c.28405A>G (p.Lys9469Glu) c.49900A>G (p.Lys16634Glu) c.49897A>G (p.Lys16633Glu) c.49330A>G (p.Lys16444Glu) c.46672A>G (p.Lys15558Glu) c.46591A>G (p.Lys15531Glu) c.28354A>G (p.Lys9452Glu) c.18208A>G (p.Lys6070Glu) | |
| 2 | g.178601538T>G | CA349541144 | TTN,TTN-AS1 | c.47755A>C (p.Lys15919Gln) c.28840A>C (p.Lys9614Gln) c.28639A>C (p.Lys9547Gln) c.28264A>C (p.Lys9422Gln) c.55459A>C (p.Lys18487Gln) c.50536A>C (p.Lys16846Gln) n.682+3857T>G n.3917+871T>G c.54556A>C (p.Lys18186Gln) c.28450A>C (p.Lys9484Gln) c.28309A>C (p.Lys9437Gln) c.54352A>C (p.Lys18118Gln) c.49750A>C (p.Lys16584Gln) c.49747A>C (p.Lys16583Gln) c.46789A>C (p.Lys15597Gln) c.28405A>C (p.Lys9469Gln) c.49900A>C (p.Lys16634Gln) c.49897A>C (p.Lys16633Gln) c.49330A>C (p.Lys16444Gln) c.46672A>C (p.Lys15558Gln) c.46591A>C (p.Lys15531Gln) c.28354A>C (p.Lys9452Gln) c.18208A>C (p.Lys6070Gln) | |
| 2 | g.178601539C>A | CA430269264 | TTN,TTN-AS1 | c.47754G>T (p.Leu15918=) c.28839G>T (p.Leu9613=) c.28638G>T (p.Leu9546=) c.28263G>T (p.Leu9421=) c.55458G>T (p.Leu18486=) c.50535G>T (p.Leu16845=) n.682+3858C>A n.3917+872C>A c.54555G>T (p.Leu18185=) c.28449G>T (p.Leu9483=) c.28308G>T (p.Leu9436=) c.54351G>T (p.Leu18117=) c.49749G>T (p.Leu16583=) c.49746G>T (p.Leu16582=) c.46788G>T (p.Leu15596=) c.28404G>T (p.Leu9468=) c.49899G>T (p.Leu16633=) c.49896G>T (p.Leu16632=) c.49329G>T (p.Leu16443=) c.46671G>T (p.Leu15557=) c.46590G>T (p.Leu15530=) c.28353G>T (p.Leu9451=) c.18207G>T (p.Leu6069=) | |
| 2 | g.178601539C>G | CA430269263 | TTN,TTN-AS1 | c.47754G>C (p.Leu15918=) c.28839G>C (p.Leu9613=) c.28638G>C (p.Leu9546=) c.28263G>C (p.Leu9421=) c.55458G>C (p.Leu18486=) c.50535G>C (p.Leu16845=) n.682+3858C>G n.3917+872C>G c.54555G>C (p.Leu18185=) c.28449G>C (p.Leu9483=) c.28308G>C (p.Leu9436=) c.54351G>C (p.Leu18117=) c.49749G>C (p.Leu16583=) c.49746G>C (p.Leu16582=) c.46788G>C (p.Leu15596=) c.28404G>C (p.Leu9468=) c.49899G>C (p.Leu16633=) c.49896G>C (p.Leu16632=) c.49329G>C (p.Leu16443=) c.46671G>C (p.Leu15557=) c.46590G>C (p.Leu15530=) c.28353G>C (p.Leu9451=) c.18207G>C (p.Leu6069=) | |
| 2 | g.178601539C>T | CA430269262 | TTN,TTN-AS1 | c.47754G>A (p.Leu15918=) c.28839G>A (p.Leu9613=) c.28638G>A (p.Leu9546=) c.28263G>A (p.Leu9421=) c.55458G>A (p.Leu18486=) c.50535G>A (p.Leu16845=) n.682+3858C>T n.3917+872C>T c.54555G>A (p.Leu18185=) c.28449G>A (p.Leu9483=) c.28308G>A (p.Leu9436=) c.54351G>A (p.Leu18117=) c.49749G>A (p.Leu16583=) c.49746G>A (p.Leu16582=) c.46788G>A (p.Leu15596=) c.28404G>A (p.Leu9468=) c.49899G>A (p.Leu16633=) c.49896G>A (p.Leu16632=) c.49329G>A (p.Leu16443=) c.46671G>A (p.Leu15557=) c.46590G>A (p.Leu15530=) c.28353G>A (p.Leu9451=) c.18207G>A (p.Leu6069=) | |
| 2 | g.178601540A= | CA1310544163 | TTN,TTN-AS1 | c.47753T= (p.Leu15918=) c.28838T= (p.Leu9613=) c.28637T= (p.Leu9546=) c.28262T= (p.Leu9421=) c.55457T= (p.Leu18486=) c.50534T= (p.Leu16845=) n.682+3859A= n.3917+873A= c.54554T= (p.Leu18185=) c.28448T= (p.Leu9483=) c.28307T= (p.Leu9436=) c.54350T= (p.Leu18117=) c.49748T= (p.Leu16583=) c.49745T= (p.Leu16582=) c.46787T= (p.Leu15596=) c.28403T= (p.Leu9468=) c.49898T= (p.Leu16633=) c.49895T= (p.Leu16632=) c.49328T= (p.Leu16443=) c.46670T= (p.Leu15557=) c.46589T= (p.Leu15530=) c.28352T= (p.Leu9451=) c.18206T= (p.Leu6069=) | |
| 2 | g.178601540A>C | CA349541151 | TTN,TTN-AS1 | c.47753T>G (p.Leu15918Arg) c.28838T>G (p.Leu9613Arg) c.28637T>G (p.Leu9546Arg) c.28262T>G (p.Leu9421Arg) c.55457T>G (p.Leu18486Arg) c.50534T>G (p.Leu16845Arg) n.682+3859A>C n.3917+873A>C c.54554T>G (p.Leu18185Arg) c.28448T>G (p.Leu9483Arg) c.28307T>G (p.Leu9436Arg) c.54350T>G (p.Leu18117Arg) c.49748T>G (p.Leu16583Arg) c.49745T>G (p.Leu16582Arg) c.46787T>G (p.Leu15596Arg) c.28403T>G (p.Leu9468Arg) c.49898T>G (p.Leu16633Arg) c.49895T>G (p.Leu16632Arg) c.49328T>G (p.Leu16443Arg) c.46670T>G (p.Leu15557Arg) c.46589T>G (p.Leu15530Arg) c.28352T>G (p.Leu9451Arg) c.18206T>G (p.Leu6069Arg) | |
| 2 | g.178601540A>G | CA1993443 | TTN,TTN-AS1 | c.47753T>C (p.Leu15918Pro) c.28838T>C (p.Leu9613Pro) c.28637T>C (p.Leu9546Pro) c.28262T>C (p.Leu9421Pro) c.55457T>C (p.Leu18486Pro) c.50534T>C (p.Leu16845Pro) n.682+3859A>G n.3917+873A>G c.54554T>C (p.Leu18185Pro) c.28448T>C (p.Leu9483Pro) c.28307T>C (p.Leu9436Pro) c.54350T>C (p.Leu18117Pro) c.49748T>C (p.Leu16583Pro) c.49745T>C (p.Leu16582Pro) c.46787T>C (p.Leu15596Pro) c.28403T>C (p.Leu9468Pro) c.49898T>C (p.Leu16633Pro) c.49895T>C (p.Leu16632Pro) c.49328T>C (p.Leu16443Pro) c.46670T>C (p.Leu15557Pro) c.46589T>C (p.Leu15530Pro) c.28352T>C (p.Leu9451Pro) c.18206T>C (p.Leu6069Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178601540A>T | CA349541153 | TTN,TTN-AS1 | c.47753T>A (p.Leu15918Gln) c.28838T>A (p.Leu9613Gln) c.28637T>A (p.Leu9546Gln) c.28262T>A (p.Leu9421Gln) c.55457T>A (p.Leu18486Gln) c.50534T>A (p.Leu16845Gln) n.682+3859A>T n.3917+873A>T c.54554T>A (p.Leu18185Gln) c.28448T>A (p.Leu9483Gln) c.28307T>A (p.Leu9436Gln) c.54350T>A (p.Leu18117Gln) c.49748T>A (p.Leu16583Gln) c.49745T>A (p.Leu16582Gln) c.46787T>A (p.Leu15596Gln) c.28403T>A (p.Leu9468Gln) c.49898T>A (p.Leu16633Gln) c.49895T>A (p.Leu16632Gln) c.49328T>A (p.Leu16443Gln) c.46670T>A (p.Leu15557Gln) c.46589T>A (p.Leu15530Gln) c.28352T>A (p.Leu9451Gln) c.18206T>A (p.Leu6069Gln) | |
| 2 | g.178601541G>A | CA430269266 | TTN,TTN-AS1 | c.47752C>T (p.Leu15918=) c.28837C>T (p.Leu9613=) c.28636C>T (p.Leu9546=) c.28261C>T (p.Leu9421=) c.55456C>T (p.Leu18486=) c.50533C>T (p.Leu16845=) n.682+3860G>A n.3917+874G>A c.54553C>T (p.Leu18185=) c.28447C>T (p.Leu9483=) c.28306C>T (p.Leu9436=) c.54349C>T (p.Leu18117=) c.49747C>T (p.Leu16583=) c.49744C>T (p.Leu16582=) c.46786C>T (p.Leu15596=) c.28402C>T (p.Leu9468=) c.49897C>T (p.Leu16633=) c.49894C>T (p.Leu16632=) c.49327C>T (p.Leu16443=) c.46669C>T (p.Leu15557=) c.46588C>T (p.Leu15530=) c.28351C>T (p.Leu9451=) c.18205C>T (p.Leu6069=) | |
| 2 | g.178601541G>C | CA349541157 | TTN,TTN-AS1 | c.47752C>G (p.Leu15918Val) c.28837C>G (p.Leu9613Val) c.28636C>G (p.Leu9546Val) c.28261C>G (p.Leu9421Val) c.55456C>G (p.Leu18486Val) c.50533C>G (p.Leu16845Val) n.682+3860G>C n.3917+874G>C c.54553C>G (p.Leu18185Val) c.28447C>G (p.Leu9483Val) c.28306C>G (p.Leu9436Val) c.54349C>G (p.Leu18117Val) c.49747C>G (p.Leu16583Val) c.49744C>G (p.Leu16582Val) c.46786C>G (p.Leu15596Val) c.28402C>G (p.Leu9468Val) c.49897C>G (p.Leu16633Val) c.49894C>G (p.Leu16632Val) c.49327C>G (p.Leu16443Val) c.46669C>G (p.Leu15557Val) c.46588C>G (p.Leu15530Val) c.28351C>G (p.Leu9451Val) c.18205C>G (p.Leu6069Val) | gnomAD v4 |
| 2 | g.178601541G>T | CA349541159 | TTN,TTN-AS1 | c.47752C>A (p.Leu15918Met) c.28837C>A (p.Leu9613Met) c.28636C>A (p.Leu9546Met) c.28261C>A (p.Leu9421Met) c.55456C>A (p.Leu18486Met) c.50533C>A (p.Leu16845Met) n.682+3860G>T n.3917+874G>T c.54553C>A (p.Leu18185Met) c.28447C>A (p.Leu9483Met) c.28306C>A (p.Leu9436Met) c.54349C>A (p.Leu18117Met) c.49747C>A (p.Leu16583Met) c.49744C>A (p.Leu16582Met) c.46786C>A (p.Leu15596Met) c.28402C>A (p.Leu9468Met) c.49897C>A (p.Leu16633Met) c.49894C>A (p.Leu16632Met) c.49327C>A (p.Leu16443Met) c.46669C>A (p.Leu15557Met) c.46588C>A (p.Leu15530Met) c.28351C>A (p.Leu9451Met) c.18205C>A (p.Leu6069Met) | |
| 2 | g.178601542A>C | CA349541161 | TTN,TTN-AS1 | c.47751T>G (p.Asp15917Glu) c.28836T>G (p.Asp9612Glu) c.28635T>G (p.Asp9545Glu) c.28260T>G (p.Asp9420Glu) c.55455T>G (p.Asp18485Glu) c.50532T>G (p.Asp16844Glu) n.682+3861A>C n.3917+875A>C c.54552T>G (p.Asp18184Glu) c.28446T>G (p.Asp9482Glu) c.28305T>G (p.Asp9435Glu) c.54348T>G (p.Asp18116Glu) c.49746T>G (p.Asp16582Glu) c.49743T>G (p.Asp16581Glu) c.46785T>G (p.Asp15595Glu) c.28401T>G (p.Asp9467Glu) c.49896T>G (p.Asp16632Glu) c.49893T>G (p.Asp16631Glu) c.49326T>G (p.Asp16442Glu) c.46668T>G (p.Asp15556Glu) c.46587T>G (p.Asp15529Glu) c.28350T>G (p.Asp9450Glu) c.18204T>G (p.Asp6068Glu) | |
| 2 | g.178601542A>G | CA430269267 | TTN,TTN-AS1 | c.47751T>C (p.Asp15917=) c.28836T>C (p.Asp9612=) c.28635T>C (p.Asp9545=) c.28260T>C (p.Asp9420=) c.55455T>C (p.Asp18485=) c.50532T>C (p.Asp16844=) n.682+3861A>G n.3917+875A>G c.54552T>C (p.Asp18184=) c.28446T>C (p.Asp9482=) c.28305T>C (p.Asp9435=) c.54348T>C (p.Asp18116=) c.49746T>C (p.Asp16582=) c.49743T>C (p.Asp16581=) c.46785T>C (p.Asp15595=) c.28401T>C (p.Asp9467=) c.49896T>C (p.Asp16632=) c.49893T>C (p.Asp16631=) c.49326T>C (p.Asp16442=) c.46668T>C (p.Asp15556=) c.46587T>C (p.Asp15529=) c.28350T>C (p.Asp9450=) c.18204T>C (p.Asp6068=) | ClinVar gnomAD v4 |
| 2 | g.178601542A>T | CA349541163 | TTN,TTN-AS1 | c.47751T>A (p.Asp15917Glu) c.28836T>A (p.Asp9612Glu) c.28635T>A (p.Asp9545Glu) c.28260T>A (p.Asp9420Glu) c.55455T>A (p.Asp18485Glu) c.50532T>A (p.Asp16844Glu) n.682+3861A>T n.3917+875A>T c.54552T>A (p.Asp18184Glu) c.28446T>A (p.Asp9482Glu) c.28305T>A (p.Asp9435Glu) c.54348T>A (p.Asp18116Glu) c.49746T>A (p.Asp16582Glu) c.49743T>A (p.Asp16581Glu) c.46785T>A (p.Asp15595Glu) c.28401T>A (p.Asp9467Glu) c.49896T>A (p.Asp16632Glu) c.49893T>A (p.Asp16631Glu) c.49326T>A (p.Asp16442Glu) c.46668T>A (p.Asp15556Glu) c.46587T>A (p.Asp15529Glu) c.28350T>A (p.Asp9450Glu) c.18204T>A (p.Asp6068Glu) | |
| 2 | g.178601543T>A | CA349541166 | TTN,TTN-AS1 | c.47750A>T (p.Asp15917Val) c.28835A>T (p.Asp9612Val) c.28634A>T (p.Asp9545Val) c.28259A>T (p.Asp9420Val) c.55454A>T (p.Asp18485Val) c.50531A>T (p.Asp16844Val) n.682+3862T>A n.3917+876T>A c.54551A>T (p.Asp18184Val) c.28445A>T (p.Asp9482Val) c.28304A>T (p.Asp9435Val) c.54347A>T (p.Asp18116Val) c.49745A>T (p.Asp16582Val) c.49742A>T (p.Asp16581Val) c.46784A>T (p.Asp15595Val) c.28400A>T (p.Asp9467Val) c.49895A>T (p.Asp16632Val) c.49892A>T (p.Asp16631Val) c.49325A>T (p.Asp16442Val) c.46667A>T (p.Asp15556Val) c.46586A>T (p.Asp15529Val) c.28349A>T (p.Asp9450Val) c.18203A>T (p.Asp6068Val) | |
| 2 | g.178601543T>C | CA349541169 | TTN,TTN-AS1 | c.47750A>G (p.Asp15917Gly) c.28835A>G (p.Asp9612Gly) c.28634A>G (p.Asp9545Gly) c.28259A>G (p.Asp9420Gly) c.55454A>G (p.Asp18485Gly) c.50531A>G (p.Asp16844Gly) n.682+3862T>C n.3917+876T>C c.54551A>G (p.Asp18184Gly) c.28445A>G (p.Asp9482Gly) c.28304A>G (p.Asp9435Gly) c.54347A>G (p.Asp18116Gly) c.49745A>G (p.Asp16582Gly) c.49742A>G (p.Asp16581Gly) c.46784A>G (p.Asp15595Gly) c.28400A>G (p.Asp9467Gly) c.49895A>G (p.Asp16632Gly) c.49892A>G (p.Asp16631Gly) c.49325A>G (p.Asp16442Gly) c.46667A>G (p.Asp15556Gly) c.46586A>G (p.Asp15529Gly) c.28349A>G (p.Asp9450Gly) c.18203A>G (p.Asp6068Gly) | |
| 2 | g.178601543T>G | CA349541172 | TTN,TTN-AS1 | c.47750A>C (p.Asp15917Ala) c.28835A>C (p.Asp9612Ala) c.28634A>C (p.Asp9545Ala) c.28259A>C (p.Asp9420Ala) c.55454A>C (p.Asp18485Ala) c.50531A>C (p.Asp16844Ala) n.682+3862T>G n.3917+876T>G c.54551A>C (p.Asp18184Ala) c.28445A>C (p.Asp9482Ala) c.28304A>C (p.Asp9435Ala) c.54347A>C (p.Asp18116Ala) c.49745A>C (p.Asp16582Ala) c.49742A>C (p.Asp16581Ala) c.46784A>C (p.Asp15595Ala) c.28400A>C (p.Asp9467Ala) c.49895A>C (p.Asp16632Ala) c.49892A>C (p.Asp16631Ala) c.49325A>C (p.Asp16442Ala) c.46667A>C (p.Asp15556Ala) c.46586A>C (p.Asp15529Ala) c.28349A>C (p.Asp9450Ala) c.18203A>C (p.Asp6068Ala) | |
| 2 | g.178601544C>A | CA349541175 | TTN,TTN-AS1 | c.47749G>T (p.Asp15917Tyr) c.28834G>T (p.Asp9612Tyr) c.28633G>T (p.Asp9545Tyr) c.28258G>T (p.Asp9420Tyr) c.55453G>T (p.Asp18485Tyr) c.50530G>T (p.Asp16844Tyr) n.682+3863C>A n.3917+877C>A c.54550G>T (p.Asp18184Tyr) c.28444G>T (p.Asp9482Tyr) c.28303G>T (p.Asp9435Tyr) c.54346G>T (p.Asp18116Tyr) c.49744G>T (p.Asp16582Tyr) c.49741G>T (p.Asp16581Tyr) c.46783G>T (p.Asp15595Tyr) c.28399G>T (p.Asp9467Tyr) c.49894G>T (p.Asp16632Tyr) c.49891G>T (p.Asp16631Tyr) c.49324G>T (p.Asp16442Tyr) c.46666G>T (p.Asp15556Tyr) c.46585G>T (p.Asp15529Tyr) c.28348G>T (p.Asp9450Tyr) c.18202G>T (p.Asp6068Tyr) | |
| 2 | g.178601544C= | CA1310544164 | TTN,TTN-AS1 | c.47749G= (p.Asp15917=) c.28834G= (p.Asp9612=) c.28633G= (p.Asp9545=) c.28258G= (p.Asp9420=) c.55453G= (p.Asp18485=) c.50530G= (p.Asp16844=) n.682+3863C= n.3917+877C= c.54550G= (p.Asp18184=) c.28444G= (p.Asp9482=) c.28303G= (p.Asp9435=) c.54346G= (p.Asp18116=) c.49744G= (p.Asp16582=) c.49741G= (p.Asp16581=) c.46783G= (p.Asp15595=) c.28399G= (p.Asp9467=) c.49894G= (p.Asp16632=) c.49891G= (p.Asp16631=) c.49324G= (p.Asp16442=) c.46666G= (p.Asp15556=) c.46585G= (p.Asp15529=) c.28348G= (p.Asp9450=) c.18202G= (p.Asp6068=) | |
| 2 | g.178601544C>G | CA349541176 | TTN,TTN-AS1 | c.47749G>C (p.Asp15917His) c.28834G>C (p.Asp9612His) c.28633G>C (p.Asp9545His) c.28258G>C (p.Asp9420His) c.55453G>C (p.Asp18485His) c.50530G>C (p.Asp16844His) n.682+3863C>G n.3917+877C>G c.54550G>C (p.Asp18184His) c.28444G>C (p.Asp9482His) c.28303G>C (p.Asp9435His) c.54346G>C (p.Asp18116His) c.49744G>C (p.Asp16582His) c.49741G>C (p.Asp16581His) c.46783G>C (p.Asp15595His) c.28399G>C (p.Asp9467His) c.49894G>C (p.Asp16632His) c.49891G>C (p.Asp16631His) c.49324G>C (p.Asp16442His) c.46666G>C (p.Asp15556His) c.46585G>C (p.Asp15529His) c.28348G>C (p.Asp9450His) c.18202G>C (p.Asp6068His) | dbSNP |
| 2 | g.178601544C>T | CA349541178 | TTN,TTN-AS1 | c.47749G>A (p.Asp15917Asn) c.28834G>A (p.Asp9612Asn) c.28633G>A (p.Asp9545Asn) c.28258G>A (p.Asp9420Asn) c.55453G>A (p.Asp18485Asn) c.50530G>A (p.Asp16844Asn) n.682+3863C>T n.3917+877C>T c.54550G>A (p.Asp18184Asn) c.28444G>A (p.Asp9482Asn) c.28303G>A (p.Asp9435Asn) c.54346G>A (p.Asp18116Asn) c.49744G>A (p.Asp16582Asn) c.49741G>A (p.Asp16581Asn) c.46783G>A (p.Asp15595Asn) c.28399G>A (p.Asp9467Asn) c.49894G>A (p.Asp16632Asn) c.49891G>A (p.Asp16631Asn) c.49324G>A (p.Asp16442Asn) c.46666G>A (p.Asp15556Asn) c.46585G>A (p.Asp15529Asn) c.28348G>A (p.Asp9450Asn) c.18202G>A (p.Asp6068Asn) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178601545T>A | CA349541183 | TTN,TTN-AS1 | c.47748A>T (p.Lys15916Asn) c.28833A>T (p.Lys9611Asn) c.28632A>T (p.Lys9544Asn) c.28257A>T (p.Lys9419Asn) c.55452A>T (p.Lys18484Asn) c.50529A>T (p.Lys16843Asn) n.682+3864T>A n.3917+878T>A c.54549A>T (p.Lys18183Asn) c.28443A>T (p.Lys9481Asn) c.28302A>T (p.Lys9434Asn) c.54345A>T (p.Lys18115Asn) c.49743A>T (p.Lys16581Asn) c.49740A>T (p.Lys16580Asn) c.46782A>T (p.Lys15594Asn) c.28398A>T (p.Lys9466Asn) c.49893A>T (p.Lys16631Asn) c.49890A>T (p.Lys16630Asn) c.49323A>T (p.Lys16441Asn) c.46665A>T (p.Lys15555Asn) c.46584A>T (p.Lys15528Asn) c.28347A>T (p.Lys9449Asn) c.18201A>T (p.Lys6067Asn) | |
| 2 | g.178601545T>C | CA60977952 | TTN,TTN-AS1 | c.47748A>G (p.Lys15916=) c.28833A>G (p.Lys9611=) c.28632A>G (p.Lys9544=) c.28257A>G (p.Lys9419=) c.55452A>G (p.Lys18484=) c.50529A>G (p.Lys16843=) n.682+3864T>C n.3917+878T>C c.54549A>G (p.Lys18183=) c.28443A>G (p.Lys9481=) c.28302A>G (p.Lys9434=) c.54345A>G (p.Lys18115=) c.49743A>G (p.Lys16581=) c.49740A>G (p.Lys16580=) c.46782A>G (p.Lys15594=) c.28398A>G (p.Lys9466=) c.49893A>G (p.Lys16631=) c.49890A>G (p.Lys16630=) c.49323A>G (p.Lys16441=) c.46665A>G (p.Lys15555=) c.46584A>G (p.Lys15528=) c.28347A>G (p.Lys9449=) c.18201A>G (p.Lys6067=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178601545T>G | CA349541181 | TTN,TTN-AS1 | c.47748A>C (p.Lys15916Asn) c.28833A>C (p.Lys9611Asn) c.28632A>C (p.Lys9544Asn) c.28257A>C (p.Lys9419Asn) c.55452A>C (p.Lys18484Asn) c.50529A>C (p.Lys16843Asn) n.682+3864T>G n.3917+878T>G c.54549A>C (p.Lys18183Asn) c.28443A>C (p.Lys9481Asn) c.28302A>C (p.Lys9434Asn) c.54345A>C (p.Lys18115Asn) c.49743A>C (p.Lys16581Asn) c.49740A>C (p.Lys16580Asn) c.46782A>C (p.Lys15594Asn) c.28398A>C (p.Lys9466Asn) c.49893A>C (p.Lys16631Asn) c.49890A>C (p.Lys16630Asn) c.49323A>C (p.Lys16441Asn) c.46665A>C (p.Lys15555Asn) c.46584A>C (p.Lys15528Asn) c.28347A>C (p.Lys9449Asn) c.18201A>C (p.Lys6067Asn) | |
| 2 | g.178601545T= | CA1310544165 | TTN,TTN-AS1 | c.47748A= (p.Lys15916=) c.28833A= (p.Lys9611=) c.28632A= (p.Lys9544=) c.28257A= (p.Lys9419=) c.55452A= (p.Lys18484=) c.50529A= (p.Lys16843=) n.682+3864T= n.3917+878T= c.54549A= (p.Lys18183=) c.28443A= (p.Lys9481=) c.28302A= (p.Lys9434=) c.54345A= (p.Lys18115=) c.49743A= (p.Lys16581=) c.49740A= (p.Lys16580=) c.46782A= (p.Lys15594=) c.28398A= (p.Lys9466=) c.49893A= (p.Lys16631=) c.49890A= (p.Lys16630=) c.49323A= (p.Lys16441=) c.46665A= (p.Lys15555=) c.46584A= (p.Lys15528=) c.28347A= (p.Lys9449=) c.18201A= (p.Lys6067=) | |
| 2 | g.178601546T>A | CA349541188 | TTN,TTN-AS1 | c.47747A>T (p.Lys15916Ile) c.28832A>T (p.Lys9611Ile) c.28631A>T (p.Lys9544Ile) c.28256A>T (p.Lys9419Ile) c.55451A>T (p.Lys18484Ile) c.50528A>T (p.Lys16843Ile) n.682+3865T>A n.3917+879T>A c.54548A>T (p.Lys18183Ile) c.28442A>T (p.Lys9481Ile) c.28301A>T (p.Lys9434Ile) c.54344A>T (p.Lys18115Ile) c.49742A>T (p.Lys16581Ile) c.49739A>T (p.Lys16580Ile) c.46781A>T (p.Lys15594Ile) c.28397A>T (p.Lys9466Ile) c.49892A>T (p.Lys16631Ile) c.49889A>T (p.Lys16630Ile) c.49322A>T (p.Lys16441Ile) c.46664A>T (p.Lys15555Ile) c.46583A>T (p.Lys15528Ile) c.28346A>T (p.Lys9449Ile) c.18200A>T (p.Lys6067Ile) | |
| 2 | g.178601546T>C | CA349541189 | TTN,TTN-AS1 | c.47747A>G (p.Lys15916Arg) c.28832A>G (p.Lys9611Arg) c.28631A>G (p.Lys9544Arg) c.28256A>G (p.Lys9419Arg) c.55451A>G (p.Lys18484Arg) c.50528A>G (p.Lys16843Arg) n.682+3865T>C n.3917+879T>C c.54548A>G (p.Lys18183Arg) c.28442A>G (p.Lys9481Arg) c.28301A>G (p.Lys9434Arg) c.54344A>G (p.Lys18115Arg) c.49742A>G (p.Lys16581Arg) c.49739A>G (p.Lys16580Arg) c.46781A>G (p.Lys15594Arg) c.28397A>G (p.Lys9466Arg) c.49892A>G (p.Lys16631Arg) c.49889A>G (p.Lys16630Arg) c.49322A>G (p.Lys16441Arg) c.46664A>G (p.Lys15555Arg) c.46583A>G (p.Lys15528Arg) c.28346A>G (p.Lys9449Arg) c.18200A>G (p.Lys6067Arg) | |
| 2 | g.178601546T>G | CA349541192 | TTN,TTN-AS1 | c.47747A>C (p.Lys15916Thr) c.28832A>C (p.Lys9611Thr) c.28631A>C (p.Lys9544Thr) c.28256A>C (p.Lys9419Thr) c.55451A>C (p.Lys18484Thr) c.50528A>C (p.Lys16843Thr) n.682+3865T>G n.3917+879T>G c.54548A>C (p.Lys18183Thr) c.28442A>C (p.Lys9481Thr) c.28301A>C (p.Lys9434Thr) c.54344A>C (p.Lys18115Thr) c.49742A>C (p.Lys16581Thr) c.49739A>C (p.Lys16580Thr) c.46781A>C (p.Lys15594Thr) c.28397A>C (p.Lys9466Thr) c.49892A>C (p.Lys16631Thr) c.49889A>C (p.Lys16630Thr) c.49322A>C (p.Lys16441Thr) c.46664A>C (p.Lys15555Thr) c.46583A>C (p.Lys15528Thr) c.28346A>C (p.Lys9449Thr) c.18200A>C (p.Lys6067Thr) | |
| 2 | g.178601547T>A | CA349541197 | TTN,TTN-AS1 | c.47746A>T (p.Lys15916Ter) c.28831A>T (p.Lys9611Ter) c.28630A>T (p.Lys9544Ter) c.28255A>T (p.Lys9419Ter) c.55450A>T (p.Lys18484Ter) c.50527A>T (p.Lys16843Ter) n.682+3866T>A n.3917+880T>A c.54547A>T (p.Lys18183Ter) c.28441A>T (p.Lys9481Ter) c.28300A>T (p.Lys9434Ter) c.54343A>T (p.Lys18115Ter) c.49741A>T (p.Lys16581Ter) c.49738A>T (p.Lys16580Ter) c.46780A>T (p.Lys15594Ter) c.28396A>T (p.Lys9466Ter) c.49891A>T (p.Lys16631Ter) c.49888A>T (p.Lys16630Ter) c.49321A>T (p.Lys16441Ter) c.46663A>T (p.Lys15555Ter) c.46582A>T (p.Lys15528Ter) c.28345A>T (p.Lys9449Ter) c.18199A>T (p.Lys6067Ter) | |
| 2 | g.178601547T>C | CA349541199 | TTN,TTN-AS1 | c.47746A>G (p.Lys15916Glu) c.28831A>G (p.Lys9611Glu) c.28630A>G (p.Lys9544Glu) c.28255A>G (p.Lys9419Glu) c.55450A>G (p.Lys18484Glu) c.50527A>G (p.Lys16843Glu) n.682+3866T>C n.3917+880T>C c.54547A>G (p.Lys18183Glu) c.28441A>G (p.Lys9481Glu) c.28300A>G (p.Lys9434Glu) c.54343A>G (p.Lys18115Glu) c.49741A>G (p.Lys16581Glu) c.49738A>G (p.Lys16580Glu) c.46780A>G (p.Lys15594Glu) c.28396A>G (p.Lys9466Glu) c.49891A>G (p.Lys16631Glu) c.49888A>G (p.Lys16630Glu) c.49321A>G (p.Lys16441Glu) c.46663A>G (p.Lys15555Glu) c.46582A>G (p.Lys15528Glu) c.28345A>G (p.Lys9449Glu) c.18199A>G (p.Lys6067Glu) | |
| 2 | g.178601547T>G | CA349541202 | TTN,TTN-AS1 | c.47746A>C (p.Lys15916Gln) c.28831A>C (p.Lys9611Gln) c.28630A>C (p.Lys9544Gln) c.28255A>C (p.Lys9419Gln) c.55450A>C (p.Lys18484Gln) c.50527A>C (p.Lys16843Gln) n.682+3866T>G n.3917+880T>G c.54547A>C (p.Lys18183Gln) c.28441A>C (p.Lys9481Gln) c.28300A>C (p.Lys9434Gln) c.54343A>C (p.Lys18115Gln) c.49741A>C (p.Lys16581Gln) c.49738A>C (p.Lys16580Gln) c.46780A>C (p.Lys15594Gln) c.28396A>C (p.Lys9466Gln) c.49891A>C (p.Lys16631Gln) c.49888A>C (p.Lys16630Gln) c.49321A>C (p.Lys16441Gln) c.46663A>C (p.Lys15555Gln) c.46582A>C (p.Lys15528Gln) c.28345A>C (p.Lys9449Gln) c.18199A>C (p.Lys6067Gln) | |
| 2 | g.178601548G>A | CA235099 | TTN,TTN-AS1 | c.47745C>T (p.Pro15915=) c.28830C>T (p.Pro9610=) c.28629C>T (p.Pro9543=) c.28254C>T (p.Pro9418=) c.55449C>T (p.Pro18483=) c.50526C>T (p.Pro16842=) n.682+3867G>A n.3917+881G>A c.54546C>T (p.Pro18182=) c.28440C>T (p.Pro9480=) c.28299C>T (p.Pro9433=) c.54342C>T (p.Pro18114=) c.49740C>T (p.Pro16580=) c.49737C>T (p.Pro16579=) c.46779C>T (p.Pro15593=) c.28395C>T (p.Pro9465=) c.49890C>T (p.Pro16630=) c.49887C>T (p.Pro16629=) c.49320C>T (p.Pro16440=) c.46662C>T (p.Pro15554=) c.46581C>T (p.Pro15527=) c.28344C>T (p.Pro9448=) c.18198C>T (p.Pro6066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178601548G>C | CA430269273 | TTN,TTN-AS1 | c.47745C>G (p.Pro15915=) c.28830C>G (p.Pro9610=) c.28629C>G (p.Pro9543=) c.28254C>G (p.Pro9418=) c.55449C>G (p.Pro18483=) c.50526C>G (p.Pro16842=) n.682+3867G>C n.3917+881G>C c.54546C>G (p.Pro18182=) c.28440C>G (p.Pro9480=) c.28299C>G (p.Pro9433=) c.54342C>G (p.Pro18114=) c.49740C>G (p.Pro16580=) c.49737C>G (p.Pro16579=) c.46779C>G (p.Pro15593=) c.28395C>G (p.Pro9465=) c.49890C>G (p.Pro16630=) c.49887C>G (p.Pro16629=) c.49320C>G (p.Pro16440=) c.46662C>G (p.Pro15554=) c.46581C>G (p.Pro15527=) c.28344C>G (p.Pro9448=) c.18198C>G (p.Pro6066=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178601548G= | CA1310544166 | TTN,TTN-AS1 | c.47745C= (p.Pro15915=) c.28830C= (p.Pro9610=) c.28629C= (p.Pro9543=) c.28254C= (p.Pro9418=) c.55449C= (p.Pro18483=) c.50526C= (p.Pro16842=) n.682+3867G= n.3917+881G= c.54546C= (p.Pro18182=) c.28440C= (p.Pro9480=) c.28299C= (p.Pro9433=) c.54342C= (p.Pro18114=) c.49740C= (p.Pro16580=) c.49737C= (p.Pro16579=) c.46779C= (p.Pro15593=) c.28395C= (p.Pro9465=) c.49890C= (p.Pro16630=) c.49887C= (p.Pro16629=) c.49320C= (p.Pro16440=) c.46662C= (p.Pro15554=) c.46581C= (p.Pro15527=) c.28344C= (p.Pro9448=) c.18198C= (p.Pro6066=) | |
| 2 | g.178601548G>T | CA430269274 | TTN,TTN-AS1 | c.47745C>A (p.Pro15915=) c.28830C>A (p.Pro9610=) c.28629C>A (p.Pro9543=) c.28254C>A (p.Pro9418=) c.55449C>A (p.Pro18483=) c.50526C>A (p.Pro16842=) n.682+3867G>T n.3917+881G>T c.54546C>A (p.Pro18182=) c.28440C>A (p.Pro9480=) c.28299C>A (p.Pro9433=) c.54342C>A (p.Pro18114=) c.49740C>A (p.Pro16580=) c.49737C>A (p.Pro16579=) c.46779C>A (p.Pro15593=) c.28395C>A (p.Pro9465=) c.49890C>A (p.Pro16630=) c.49887C>A (p.Pro16629=) c.49320C>A (p.Pro16440=) c.46662C>A (p.Pro15554=) c.46581C>A (p.Pro15527=) c.28344C>A (p.Pro9448=) c.18198C>A (p.Pro6066=) | |
| 2 | g.178601549G>A | CA349541209 | TTN,TTN-AS1 | c.47744C>T (p.Pro15915Leu) c.28829C>T (p.Pro9610Leu) c.28628C>T (p.Pro9543Leu) c.28253C>T (p.Pro9418Leu) c.55448C>T (p.Pro18483Leu) c.50525C>T (p.Pro16842Leu) n.682+3868G>A n.3917+882G>A c.54545C>T (p.Pro18182Leu) c.28439C>T (p.Pro9480Leu) c.28298C>T (p.Pro9433Leu) c.54341C>T (p.Pro18114Leu) c.49739C>T (p.Pro16580Leu) c.49736C>T (p.Pro16579Leu) c.46778C>T (p.Pro15593Leu) c.28394C>T (p.Pro9465Leu) c.49889C>T (p.Pro16630Leu) c.49886C>T (p.Pro16629Leu) c.49319C>T (p.Pro16440Leu) c.46661C>T (p.Pro15554Leu) c.46580C>T (p.Pro15527Leu) c.28343C>T (p.Pro9448Leu) c.18197C>T (p.Pro6066Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178601549G>C | CA349541212 | TTN,TTN-AS1 | c.47744C>G (p.Pro15915Arg) c.28829C>G (p.Pro9610Arg) c.28628C>G (p.Pro9543Arg) c.28253C>G (p.Pro9418Arg) c.55448C>G (p.Pro18483Arg) c.50525C>G (p.Pro16842Arg) n.682+3868G>C n.3917+882G>C c.54545C>G (p.Pro18182Arg) c.28439C>G (p.Pro9480Arg) c.28298C>G (p.Pro9433Arg) c.54341C>G (p.Pro18114Arg) c.49739C>G (p.Pro16580Arg) c.49736C>G (p.Pro16579Arg) c.46778C>G (p.Pro15593Arg) c.28394C>G (p.Pro9465Arg) c.49889C>G (p.Pro16630Arg) c.49886C>G (p.Pro16629Arg) c.49319C>G (p.Pro16440Arg) c.46661C>G (p.Pro15554Arg) c.46580C>G (p.Pro15527Arg) c.28343C>G (p.Pro9448Arg) c.18197C>G (p.Pro6066Arg) | |
| 2 | g.178601549G= | CA1310544167 | TTN,TTN-AS1 | c.47744C= (p.Pro15915=) c.28829C= (p.Pro9610=) c.28628C= (p.Pro9543=) c.28253C= (p.Pro9418=) c.55448C= (p.Pro18483=) c.50525C= (p.Pro16842=) n.682+3868G= n.3917+882G= c.54545C= (p.Pro18182=) c.28439C= (p.Pro9480=) c.28298C= (p.Pro9433=) c.54341C= (p.Pro18114=) c.49739C= (p.Pro16580=) c.49736C= (p.Pro16579=) c.46778C= (p.Pro15593=) c.28394C= (p.Pro9465=) c.49889C= (p.Pro16630=) c.49886C= (p.Pro16629=) c.49319C= (p.Pro16440=) c.46661C= (p.Pro15554=) c.46580C= (p.Pro15527=) c.28343C= (p.Pro9448=) c.18197C= (p.Pro6066=) | |
| 2 | g.178601549G>T | CA349541215 | TTN,TTN-AS1 | c.47744C>A (p.Pro15915His) c.28829C>A (p.Pro9610His) c.28628C>A (p.Pro9543His) c.28253C>A (p.Pro9418His) c.55448C>A (p.Pro18483His) c.50525C>A (p.Pro16842His) n.682+3868G>T n.3917+882G>T c.54545C>A (p.Pro18182His) c.28439C>A (p.Pro9480His) c.28298C>A (p.Pro9433His) c.54341C>A (p.Pro18114His) c.49739C>A (p.Pro16580His) c.49736C>A (p.Pro16579His) c.46778C>A (p.Pro15593His) c.28394C>A (p.Pro9465His) c.49889C>A (p.Pro16630His) c.49886C>A (p.Pro16629His) c.49319C>A (p.Pro16440His) c.46661C>A (p.Pro15554His) c.46580C>A (p.Pro15527His) c.28343C>A (p.Pro9448His) c.18197C>A (p.Pro6066His) | |
| 2 | g.178601550G>A | CA349541216 | TTN,TTN-AS1 | c.47743C>T (p.Pro15915Ser) c.28828C>T (p.Pro9610Ser) c.28627C>T (p.Pro9543Ser) c.28252C>T (p.Pro9418Ser) c.55447C>T (p.Pro18483Ser) c.50524C>T (p.Pro16842Ser) n.682+3869G>A n.3917+883G>A c.54544C>T (p.Pro18182Ser) c.28438C>T (p.Pro9480Ser) c.28297C>T (p.Pro9433Ser) c.54340C>T (p.Pro18114Ser) c.49738C>T (p.Pro16580Ser) c.49735C>T (p.Pro16579Ser) c.46777C>T (p.Pro15593Ser) c.28393C>T (p.Pro9465Ser) c.49888C>T (p.Pro16630Ser) c.49885C>T (p.Pro16629Ser) c.49318C>T (p.Pro16440Ser) c.46660C>T (p.Pro15554Ser) c.46579C>T (p.Pro15527Ser) c.28342C>T (p.Pro9448Ser) c.18196C>T (p.Pro6066Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178601550G>C | CA349541217 | TTN,TTN-AS1 | c.47743C>G (p.Pro15915Ala) c.28828C>G (p.Pro9610Ala) c.28627C>G (p.Pro9543Ala) c.28252C>G (p.Pro9418Ala) c.55447C>G (p.Pro18483Ala) c.50524C>G (p.Pro16842Ala) n.682+3869G>C n.3917+883G>C c.54544C>G (p.Pro18182Ala) c.28438C>G (p.Pro9480Ala) c.28297C>G (p.Pro9433Ala) c.54340C>G (p.Pro18114Ala) c.49738C>G (p.Pro16580Ala) c.49735C>G (p.Pro16579Ala) c.46777C>G (p.Pro15593Ala) c.28393C>G (p.Pro9465Ala) c.49888C>G (p.Pro16630Ala) c.49885C>G (p.Pro16629Ala) c.49318C>G (p.Pro16440Ala) c.46660C>G (p.Pro15554Ala) c.46579C>G (p.Pro15527Ala) c.28342C>G (p.Pro9448Ala) c.18196C>G (p.Pro6066Ala) | |
| 2 | g.178601550G= | CA1310544168 | TTN,TTN-AS1 | c.47743C= (p.Pro15915=) c.28828C= (p.Pro9610=) c.28627C= (p.Pro9543=) c.28252C= (p.Pro9418=) c.55447C= (p.Pro18483=) c.50524C= (p.Pro16842=) n.682+3869G= n.3917+883G= c.54544C= (p.Pro18182=) c.28438C= (p.Pro9480=) c.28297C= (p.Pro9433=) c.54340C= (p.Pro18114=) c.49738C= (p.Pro16580=) c.49735C= (p.Pro16579=) c.46777C= (p.Pro15593=) c.28393C= (p.Pro9465=) c.49888C= (p.Pro16630=) c.49885C= (p.Pro16629=) c.49318C= (p.Pro16440=) c.46660C= (p.Pro15554=) c.46579C= (p.Pro15527=) c.28342C= (p.Pro9448=) c.18196C= (p.Pro6066=) | |
| 2 | g.178601550G>T | CA349541218 | TTN,TTN-AS1 | c.47743C>A (p.Pro15915Thr) c.28828C>A (p.Pro9610Thr) c.28627C>A (p.Pro9543Thr) c.28252C>A (p.Pro9418Thr) c.55447C>A (p.Pro18483Thr) c.50524C>A (p.Pro16842Thr) n.682+3869G>T n.3917+883G>T c.54544C>A (p.Pro18182Thr) c.28438C>A (p.Pro9480Thr) c.28297C>A (p.Pro9433Thr) c.54340C>A (p.Pro18114Thr) c.49738C>A (p.Pro16580Thr) c.49735C>A (p.Pro16579Thr) c.46777C>A (p.Pro15593Thr) c.28393C>A (p.Pro9465Thr) c.49888C>A (p.Pro16630Thr) c.49885C>A (p.Pro16629Thr) c.49318C>A (p.Pro16440Thr) c.46660C>A (p.Pro15554Thr) c.46579C>A (p.Pro15527Thr) c.28342C>A (p.Pro9448Thr) c.18196C>A (p.Pro6066Thr) |