UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178551733C>A | CA430245135 | TTN,TTN-AS1 | c.83463G>T (p.Leu27821=) c.64548G>T (p.Leu21516=) c.64347G>T (p.Leu21449=) c.63972G>T (p.Leu21324=) c.91167G>T (p.Leu30389=) c.86244G>T (p.Leu28748=) n.447-19567C>A n.2043+9372C>A c.90264G>T (p.Leu30088=) c.64158G>T (p.Leu21386=) c.64017G>T (p.Leu21339=) c.90060G>T (p.Leu30020=) c.85458G>T (p.Leu28486=) c.85455G>T (p.Leu28485=) c.82497G>T (p.Leu27499=) c.64113G>T (p.Leu21371=) c.85608G>T (p.Leu28536=) c.85605G>T (p.Leu28535=) c.85038G>T (p.Leu28346=) c.82380G>T (p.Leu27460=) c.82299G>T (p.Leu27433=) c.64062G>T (p.Leu21354=) c.53916G>T (p.Leu17972=) | gnomAD v4 |
| 2 | g.178551733C>G | CA430245136 | TTN,TTN-AS1 | c.83463G>C (p.Leu27821=) c.64548G>C (p.Leu21516=) c.64347G>C (p.Leu21449=) c.63972G>C (p.Leu21324=) c.91167G>C (p.Leu30389=) c.86244G>C (p.Leu28748=) n.447-19567C>G n.2043+9372C>G c.90264G>C (p.Leu30088=) c.64158G>C (p.Leu21386=) c.64017G>C (p.Leu21339=) c.90060G>C (p.Leu30020=) c.85458G>C (p.Leu28486=) c.85455G>C (p.Leu28485=) c.82497G>C (p.Leu27499=) c.64113G>C (p.Leu21371=) c.85608G>C (p.Leu28536=) c.85605G>C (p.Leu28535=) c.85038G>C (p.Leu28346=) c.82380G>C (p.Leu27460=) c.82299G>C (p.Leu27433=) c.64062G>C (p.Leu21354=) c.53916G>C (p.Leu17972=) | |
| 2 | g.178551733C>T | CA430245137 | TTN,TTN-AS1 | c.83463G>A (p.Leu27821=) c.64548G>A (p.Leu21516=) c.64347G>A (p.Leu21449=) c.63972G>A (p.Leu21324=) c.91167G>A (p.Leu30389=) c.86244G>A (p.Leu28748=) n.447-19567C>T n.2043+9372C>T c.90264G>A (p.Leu30088=) c.64158G>A (p.Leu21386=) c.64017G>A (p.Leu21339=) c.90060G>A (p.Leu30020=) c.85458G>A (p.Leu28486=) c.85455G>A (p.Leu28485=) c.82497G>A (p.Leu27499=) c.64113G>A (p.Leu21371=) c.85608G>A (p.Leu28536=) c.85605G>A (p.Leu28535=) c.85038G>A (p.Leu28346=) c.82380G>A (p.Leu27460=) c.82299G>A (p.Leu27433=) c.64062G>A (p.Leu21354=) c.53916G>A (p.Leu17972=) | |
| 2 | g.178551734A= | CA1310521185 | TTN,TTN-AS1 | c.83462T= (p.Leu27821=) c.64547T= (p.Leu21516=) c.64346T= (p.Leu21449=) c.63971T= (p.Leu21324=) c.91166T= (p.Leu30389=) c.86243T= (p.Leu28748=) n.447-19566A= n.2043+9373A= c.90263T= (p.Leu30088=) c.64157T= (p.Leu21386=) c.64016T= (p.Leu21339=) c.90059T= (p.Leu30020=) c.85457T= (p.Leu28486=) c.85454T= (p.Leu28485=) c.82496T= (p.Leu27499=) c.64112T= (p.Leu21371=) c.85607T= (p.Leu28536=) c.85604T= (p.Leu28535=) c.85037T= (p.Leu28346=) c.82379T= (p.Leu27460=) c.82298T= (p.Leu27433=) c.64061T= (p.Leu21354=) c.53915T= (p.Leu17972=) | |
| 2 | g.178551734A>C | CA349503299 | TTN,TTN-AS1 | c.83462T>G (p.Leu27821Arg) c.64547T>G (p.Leu21516Arg) c.64346T>G (p.Leu21449Arg) c.63971T>G (p.Leu21324Arg) c.91166T>G (p.Leu30389Arg) c.86243T>G (p.Leu28748Arg) n.447-19566A>C n.2043+9373A>C c.90263T>G (p.Leu30088Arg) c.64157T>G (p.Leu21386Arg) c.64016T>G (p.Leu21339Arg) c.90059T>G (p.Leu30020Arg) c.85457T>G (p.Leu28486Arg) c.85454T>G (p.Leu28485Arg) c.82496T>G (p.Leu27499Arg) c.64112T>G (p.Leu21371Arg) c.85607T>G (p.Leu28536Arg) c.85604T>G (p.Leu28535Arg) c.85037T>G (p.Leu28346Arg) c.82379T>G (p.Leu27460Arg) c.82298T>G (p.Leu27433Arg) c.64061T>G (p.Leu21354Arg) c.53915T>G (p.Leu17972Arg) | |
| 2 | g.178551734A>G | CA1987680 | TTN,TTN-AS1 | c.83462T>C (p.Leu27821Pro) c.64547T>C (p.Leu21516Pro) c.64346T>C (p.Leu21449Pro) c.63971T>C (p.Leu21324Pro) c.91166T>C (p.Leu30389Pro) c.86243T>C (p.Leu28748Pro) n.447-19566A>G n.2043+9373A>G c.90263T>C (p.Leu30088Pro) c.64157T>C (p.Leu21386Pro) c.64016T>C (p.Leu21339Pro) c.90059T>C (p.Leu30020Pro) c.85457T>C (p.Leu28486Pro) c.85454T>C (p.Leu28485Pro) c.82496T>C (p.Leu27499Pro) c.64112T>C (p.Leu21371Pro) c.85607T>C (p.Leu28536Pro) c.85604T>C (p.Leu28535Pro) c.85037T>C (p.Leu28346Pro) c.82379T>C (p.Leu27460Pro) c.82298T>C (p.Leu27433Pro) c.64061T>C (p.Leu21354Pro) c.53915T>C (p.Leu17972Pro) | dbSNP ExAC |
| 2 | g.178551734A>T | CA349503298 | TTN,TTN-AS1 | c.83462T>A (p.Leu27821Gln) c.64547T>A (p.Leu21516Gln) c.64346T>A (p.Leu21449Gln) c.63971T>A (p.Leu21324Gln) c.91166T>A (p.Leu30389Gln) c.86243T>A (p.Leu28748Gln) n.447-19566A>T n.2043+9373A>T c.90263T>A (p.Leu30088Gln) c.64157T>A (p.Leu21386Gln) c.64016T>A (p.Leu21339Gln) c.90059T>A (p.Leu30020Gln) c.85457T>A (p.Leu28486Gln) c.85454T>A (p.Leu28485Gln) c.82496T>A (p.Leu27499Gln) c.64112T>A (p.Leu21371Gln) c.85607T>A (p.Leu28536Gln) c.85604T>A (p.Leu28535Gln) c.85037T>A (p.Leu28346Gln) c.82379T>A (p.Leu27460Gln) c.82298T>A (p.Leu27433Gln) c.64061T>A (p.Leu21354Gln) c.53915T>A (p.Leu17972Gln) | |
| 2 | g.178551735G>A | CA430245139 | TTN,TTN-AS1 | c.83461C>T (p.Leu27821=) c.64546C>T (p.Leu21516=) c.64345C>T (p.Leu21449=) c.63970C>T (p.Leu21324=) c.91165C>T (p.Leu30389=) c.86242C>T (p.Leu28748=) n.447-19565G>A n.2043+9374G>A c.90262C>T (p.Leu30088=) c.64156C>T (p.Leu21386=) c.64015C>T (p.Leu21339=) c.90058C>T (p.Leu30020=) c.85456C>T (p.Leu28486=) c.85453C>T (p.Leu28485=) c.82495C>T (p.Leu27499=) c.64111C>T (p.Leu21371=) c.85606C>T (p.Leu28536=) c.85603C>T (p.Leu28535=) c.85036C>T (p.Leu28346=) c.82378C>T (p.Leu27460=) c.82297C>T (p.Leu27433=) c.64060C>T (p.Leu21354=) c.53914C>T (p.Leu17972=) | gnomAD v4 |
| 2 | g.178551735G>C | CA349503303 | TTN,TTN-AS1 | c.83461C>G (p.Leu27821Val) c.64546C>G (p.Leu21516Val) c.64345C>G (p.Leu21449Val) c.63970C>G (p.Leu21324Val) c.91165C>G (p.Leu30389Val) c.86242C>G (p.Leu28748Val) n.447-19565G>C n.2043+9374G>C c.90262C>G (p.Leu30088Val) c.64156C>G (p.Leu21386Val) c.64015C>G (p.Leu21339Val) c.90058C>G (p.Leu30020Val) c.85456C>G (p.Leu28486Val) c.85453C>G (p.Leu28485Val) c.82495C>G (p.Leu27499Val) c.64111C>G (p.Leu21371Val) c.85606C>G (p.Leu28536Val) c.85603C>G (p.Leu28535Val) c.85036C>G (p.Leu28346Val) c.82378C>G (p.Leu27460Val) c.82297C>G (p.Leu27433Val) c.64060C>G (p.Leu21354Val) c.53914C>G (p.Leu17972Val) | |
| 2 | g.178551735G>T | CA349503301 | TTN,TTN-AS1 | c.83461C>A (p.Leu27821Met) c.64546C>A (p.Leu21516Met) c.64345C>A (p.Leu21449Met) c.63970C>A (p.Leu21324Met) c.91165C>A (p.Leu30389Met) c.86242C>A (p.Leu28748Met) n.447-19565G>T n.2043+9374G>T c.90262C>A (p.Leu30088Met) c.64156C>A (p.Leu21386Met) c.64015C>A (p.Leu21339Met) c.90058C>A (p.Leu30020Met) c.85456C>A (p.Leu28486Met) c.85453C>A (p.Leu28485Met) c.82495C>A (p.Leu27499Met) c.64111C>A (p.Leu21371Met) c.85606C>A (p.Leu28536Met) c.85603C>A (p.Leu28535Met) c.85036C>A (p.Leu28346Met) c.82378C>A (p.Leu27460Met) c.82297C>A (p.Leu27433Met) c.64060C>A (p.Leu21354Met) c.53914C>A (p.Leu17972Met) | |
| 2 | g.178551736T>A | CA430245140 | TTN,TTN-AS1 | c.83460A>T (p.Gly27820=) c.64545A>T (p.Gly21515=) c.64344A>T (p.Gly21448=) c.63969A>T (p.Gly21323=) c.91164A>T (p.Gly30388=) c.86241A>T (p.Gly28747=) n.447-19564T>A n.2043+9375T>A c.90261A>T (p.Gly30087=) c.64155A>T (p.Gly21385=) c.64014A>T (p.Gly21338=) c.90057A>T (p.Gly30019=) c.85455A>T (p.Gly28485=) c.85452A>T (p.Gly28484=) c.82494A>T (p.Gly27498=) c.64110A>T (p.Gly21370=) c.85605A>T (p.Gly28535=) c.85602A>T (p.Gly28534=) c.85035A>T (p.Gly28345=) c.82377A>T (p.Gly27459=) c.82296A>T (p.Gly27432=) c.64059A>T (p.Gly21353=) c.53913A>T (p.Gly17971=) | |
| 2 | g.178551736T>C | CA430245141 | TTN,TTN-AS1 | c.83460A>G (p.Gly27820=) c.64545A>G (p.Gly21515=) c.64344A>G (p.Gly21448=) c.63969A>G (p.Gly21323=) c.91164A>G (p.Gly30388=) c.86241A>G (p.Gly28747=) n.447-19564T>C n.2043+9375T>C c.90261A>G (p.Gly30087=) c.64155A>G (p.Gly21385=) c.64014A>G (p.Gly21338=) c.90057A>G (p.Gly30019=) c.85455A>G (p.Gly28485=) c.85452A>G (p.Gly28484=) c.82494A>G (p.Gly27498=) c.64110A>G (p.Gly21370=) c.85605A>G (p.Gly28535=) c.85602A>G (p.Gly28534=) c.85035A>G (p.Gly28345=) c.82377A>G (p.Gly27459=) c.82296A>G (p.Gly27432=) c.64059A>G (p.Gly21353=) c.53913A>G (p.Gly17971=) | |
| 2 | g.178551736T>G | CA430245142 | TTN,TTN-AS1 | c.83460A>C (p.Gly27820=) c.64545A>C (p.Gly21515=) c.64344A>C (p.Gly21448=) c.63969A>C (p.Gly21323=) c.91164A>C (p.Gly30388=) c.86241A>C (p.Gly28747=) n.447-19564T>G n.2043+9375T>G c.90261A>C (p.Gly30087=) c.64155A>C (p.Gly21385=) c.64014A>C (p.Gly21338=) c.90057A>C (p.Gly30019=) c.85455A>C (p.Gly28485=) c.85452A>C (p.Gly28484=) c.82494A>C (p.Gly27498=) c.64110A>C (p.Gly21370=) c.85605A>C (p.Gly28535=) c.85602A>C (p.Gly28534=) c.85035A>C (p.Gly28345=) c.82377A>C (p.Gly27459=) c.82296A>C (p.Gly27432=) c.64059A>C (p.Gly21353=) c.53913A>C (p.Gly17971=) | |
| 2 | g.178551737C>A | CA349503310 | TTN,TTN-AS1 | c.83459G>T (p.Gly27820Val) c.64544G>T (p.Gly21515Val) c.64343G>T (p.Gly21448Val) c.63968G>T (p.Gly21323Val) c.91163G>T (p.Gly30388Val) c.86240G>T (p.Gly28747Val) n.447-19563C>A n.2043+9376C>A c.90260G>T (p.Gly30087Val) c.64154G>T (p.Gly21385Val) c.64013G>T (p.Gly21338Val) c.90056G>T (p.Gly30019Val) c.85454G>T (p.Gly28485Val) c.85451G>T (p.Gly28484Val) c.82493G>T (p.Gly27498Val) c.64109G>T (p.Gly21370Val) c.85604G>T (p.Gly28535Val) c.85601G>T (p.Gly28534Val) c.85034G>T (p.Gly28345Val) c.82376G>T (p.Gly27459Val) c.82295G>T (p.Gly27432Val) c.64058G>T (p.Gly21353Val) c.53912G>T (p.Gly17971Val) | |
| 2 | g.178551737C>G | CA349503313 | TTN,TTN-AS1 | c.83459G>C (p.Gly27820Ala) c.64544G>C (p.Gly21515Ala) c.64343G>C (p.Gly21448Ala) c.63968G>C (p.Gly21323Ala) c.91163G>C (p.Gly30388Ala) c.86240G>C (p.Gly28747Ala) n.447-19563C>G n.2043+9376C>G c.90260G>C (p.Gly30087Ala) c.64154G>C (p.Gly21385Ala) c.64013G>C (p.Gly21338Ala) c.90056G>C (p.Gly30019Ala) c.85454G>C (p.Gly28485Ala) c.85451G>C (p.Gly28484Ala) c.82493G>C (p.Gly27498Ala) c.64109G>C (p.Gly21370Ala) c.85604G>C (p.Gly28535Ala) c.85601G>C (p.Gly28534Ala) c.85034G>C (p.Gly28345Ala) c.82376G>C (p.Gly27459Ala) c.82295G>C (p.Gly27432Ala) c.64058G>C (p.Gly21353Ala) c.53912G>C (p.Gly17971Ala) | |
| 2 | g.178551737C>T | CA349503318 | TTN,TTN-AS1 | c.83459G>A (p.Gly27820Glu) c.64544G>A (p.Gly21515Glu) c.64343G>A (p.Gly21448Glu) c.63968G>A (p.Gly21323Glu) c.91163G>A (p.Gly30388Glu) c.86240G>A (p.Gly28747Glu) n.447-19563C>T n.2043+9376C>T c.90260G>A (p.Gly30087Glu) c.64154G>A (p.Gly21385Glu) c.64013G>A (p.Gly21338Glu) c.90056G>A (p.Gly30019Glu) c.85454G>A (p.Gly28485Glu) c.85451G>A (p.Gly28484Glu) c.82493G>A (p.Gly27498Glu) c.64109G>A (p.Gly21370Glu) c.85604G>A (p.Gly28535Glu) c.85601G>A (p.Gly28534Glu) c.85034G>A (p.Gly28345Glu) c.82376G>A (p.Gly27459Glu) c.82295G>A (p.Gly27432Glu) c.64058G>A (p.Gly21353Glu) c.53912G>A (p.Gly17971Glu) | |
| 2 | g.178551738C>A | CA349503321 | TTN,TTN-AS1 | c.83458G>T (p.Gly27820Ter) c.64543G>T (p.Gly21515Ter) c.64342G>T (p.Gly21448Ter) c.63967G>T (p.Gly21323Ter) c.91162G>T (p.Gly30388Ter) c.86239G>T (p.Gly28747Ter) n.447-19562C>A n.2043+9377C>A c.90259G>T (p.Gly30087Ter) c.64153G>T (p.Gly21385Ter) c.64012G>T (p.Gly21338Ter) c.90055G>T (p.Gly30019Ter) c.85453G>T (p.Gly28485Ter) c.85450G>T (p.Gly28484Ter) c.82492G>T (p.Gly27498Ter) c.64108G>T (p.Gly21370Ter) c.85603G>T (p.Gly28535Ter) c.85600G>T (p.Gly28534Ter) c.85033G>T (p.Gly28345Ter) c.82375G>T (p.Gly27459Ter) c.82294G>T (p.Gly27432Ter) c.64057G>T (p.Gly21353Ter) c.53911G>T (p.Gly17971Ter) | |
| 2 | g.178551738C>G | CA349503325 | TTN,TTN-AS1 | c.83458G>C (p.Gly27820Arg) c.64543G>C (p.Gly21515Arg) c.64342G>C (p.Gly21448Arg) c.63967G>C (p.Gly21323Arg) c.91162G>C (p.Gly30388Arg) c.86239G>C (p.Gly28747Arg) n.447-19562C>G n.2043+9377C>G c.90259G>C (p.Gly30087Arg) c.64153G>C (p.Gly21385Arg) c.64012G>C (p.Gly21338Arg) c.90055G>C (p.Gly30019Arg) c.85453G>C (p.Gly28485Arg) c.85450G>C (p.Gly28484Arg) c.82492G>C (p.Gly27498Arg) c.64108G>C (p.Gly21370Arg) c.85603G>C (p.Gly28535Arg) c.85600G>C (p.Gly28534Arg) c.85033G>C (p.Gly28345Arg) c.82375G>C (p.Gly27459Arg) c.82294G>C (p.Gly27432Arg) c.64057G>C (p.Gly21353Arg) c.53911G>C (p.Gly17971Arg) | |
| 2 | g.178551738C>T | CA349503336 | TTN,TTN-AS1 | c.83458G>A (p.Gly27820Arg) c.64543G>A (p.Gly21515Arg) c.64342G>A (p.Gly21448Arg) c.63967G>A (p.Gly21323Arg) c.91162G>A (p.Gly30388Arg) c.86239G>A (p.Gly28747Arg) n.447-19562C>T n.2043+9377C>T c.90259G>A (p.Gly30087Arg) c.64153G>A (p.Gly21385Arg) c.64012G>A (p.Gly21338Arg) c.90055G>A (p.Gly30019Arg) c.85453G>A (p.Gly28485Arg) c.85450G>A (p.Gly28484Arg) c.82492G>A (p.Gly27498Arg) c.64108G>A (p.Gly21370Arg) c.85603G>A (p.Gly28535Arg) c.85600G>A (p.Gly28534Arg) c.85033G>A (p.Gly28345Arg) c.82375G>A (p.Gly27459Arg) c.82294G>A (p.Gly27432Arg) c.64057G>A (p.Gly21353Arg) c.53911G>A (p.Gly17971Arg) | |
| 2 | g.178551739A>C | CA430245146 | TTN,TTN-AS1 | c.83457T>G (p.Thr27819=) c.64542T>G (p.Thr21514=) c.64341T>G (p.Thr21447=) c.63966T>G (p.Thr21322=) c.91161T>G (p.Thr30387=) c.86238T>G (p.Thr28746=) n.447-19561A>C n.2043+9378A>C c.90258T>G (p.Thr30086=) c.64152T>G (p.Thr21384=) c.64011T>G (p.Thr21337=) c.90054T>G (p.Thr30018=) c.85452T>G (p.Thr28484=) c.85449T>G (p.Thr28483=) c.82491T>G (p.Thr27497=) c.64107T>G (p.Thr21369=) c.85602T>G (p.Thr28534=) c.85599T>G (p.Thr28533=) c.85032T>G (p.Thr28344=) c.82374T>G (p.Thr27458=) c.82293T>G (p.Thr27431=) c.64056T>G (p.Thr21352=) c.53910T>G (p.Thr17970=) | gnomAD v4 |
| 2 | g.178551739A>G | CA430245145 | TTN,TTN-AS1 | c.83457T>C (p.Thr27819=) c.64542T>C (p.Thr21514=) c.64341T>C (p.Thr21447=) c.63966T>C (p.Thr21322=) c.91161T>C (p.Thr30387=) c.86238T>C (p.Thr28746=) n.447-19561A>G n.2043+9378A>G c.90258T>C (p.Thr30086=) c.64152T>C (p.Thr21384=) c.64011T>C (p.Thr21337=) c.90054T>C (p.Thr30018=) c.85452T>C (p.Thr28484=) c.85449T>C (p.Thr28483=) c.82491T>C (p.Thr27497=) c.64107T>C (p.Thr21369=) c.85602T>C (p.Thr28534=) c.85599T>C (p.Thr28533=) c.85032T>C (p.Thr28344=) c.82374T>C (p.Thr27458=) c.82293T>C (p.Thr27431=) c.64056T>C (p.Thr21352=) c.53910T>C (p.Thr17970=) | gnomAD v4 |
| 2 | g.178551739A>T | CA430245144 | TTN,TTN-AS1 | c.83457T>A (p.Thr27819=) c.64542T>A (p.Thr21514=) c.64341T>A (p.Thr21447=) c.63966T>A (p.Thr21322=) c.91161T>A (p.Thr30387=) c.86238T>A (p.Thr28746=) n.447-19561A>T n.2043+9378A>T c.90258T>A (p.Thr30086=) c.64152T>A (p.Thr21384=) c.64011T>A (p.Thr21337=) c.90054T>A (p.Thr30018=) c.85452T>A (p.Thr28484=) c.85449T>A (p.Thr28483=) c.82491T>A (p.Thr27497=) c.64107T>A (p.Thr21369=) c.85602T>A (p.Thr28534=) c.85599T>A (p.Thr28533=) c.85032T>A (p.Thr28344=) c.82374T>A (p.Thr27458=) c.82293T>A (p.Thr27431=) c.64056T>A (p.Thr21352=) c.53910T>A (p.Thr17970=) | |
| 2 | g.178551740G>A | CA1987681 | TTN,TTN-AS1 | c.83456C>T (p.Thr27819Ile) c.64541C>T (p.Thr21514Ile) c.64340C>T (p.Thr21447Ile) c.63965C>T (p.Thr21322Ile) c.91160C>T (p.Thr30387Ile) c.86237C>T (p.Thr28746Ile) n.447-19560G>A n.2043+9379G>A c.90257C>T (p.Thr30086Ile) c.64151C>T (p.Thr21384Ile) c.64010C>T (p.Thr21337Ile) c.90053C>T (p.Thr30018Ile) c.85451C>T (p.Thr28484Ile) c.85448C>T (p.Thr28483Ile) c.82490C>T (p.Thr27497Ile) c.64106C>T (p.Thr21369Ile) c.85601C>T (p.Thr28534Ile) c.85598C>T (p.Thr28533Ile) c.85031C>T (p.Thr28344Ile) c.82373C>T (p.Thr27458Ile) c.82292C>T (p.Thr27431Ile) c.64055C>T (p.Thr21352Ile) c.53909C>T (p.Thr17970Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178551740G>C | CA349503341 | TTN,TTN-AS1 | c.83456C>G (p.Thr27819Ser) c.64541C>G (p.Thr21514Ser) c.64340C>G (p.Thr21447Ser) c.63965C>G (p.Thr21322Ser) c.91160C>G (p.Thr30387Ser) c.86237C>G (p.Thr28746Ser) n.447-19560G>C n.2043+9379G>C c.90257C>G (p.Thr30086Ser) c.64151C>G (p.Thr21384Ser) c.64010C>G (p.Thr21337Ser) c.90053C>G (p.Thr30018Ser) c.85451C>G (p.Thr28484Ser) c.85448C>G (p.Thr28483Ser) c.82490C>G (p.Thr27497Ser) c.64106C>G (p.Thr21369Ser) c.85601C>G (p.Thr28534Ser) c.85598C>G (p.Thr28533Ser) c.85031C>G (p.Thr28344Ser) c.82373C>G (p.Thr27458Ser) c.82292C>G (p.Thr27431Ser) c.64055C>G (p.Thr21352Ser) c.53909C>G (p.Thr17970Ser) | |
| 2 | g.178551740G= | CA1310521188 | TTN,TTN-AS1 | c.83456C= (p.Thr27819=) c.64541C= (p.Thr21514=) c.64340C= (p.Thr21447=) c.63965C= (p.Thr21322=) c.91160C= (p.Thr30387=) c.86237C= (p.Thr28746=) n.447-19560G= n.2043+9379G= c.90257C= (p.Thr30086=) c.64151C= (p.Thr21384=) c.64010C= (p.Thr21337=) c.90053C= (p.Thr30018=) c.85451C= (p.Thr28484=) c.85448C= (p.Thr28483=) c.82490C= (p.Thr27497=) c.64106C= (p.Thr21369=) c.85601C= (p.Thr28534=) c.85598C= (p.Thr28533=) c.85031C= (p.Thr28344=) c.82373C= (p.Thr27458=) c.82292C= (p.Thr27431=) c.64055C= (p.Thr21352=) c.53909C= (p.Thr17970=) | |
| 2 | g.178551740G>T | CA349503346 | TTN,TTN-AS1 | c.83456C>A (p.Thr27819Asn) c.64541C>A (p.Thr21514Asn) c.64340C>A (p.Thr21447Asn) c.63965C>A (p.Thr21322Asn) c.91160C>A (p.Thr30387Asn) c.86237C>A (p.Thr28746Asn) n.447-19560G>T n.2043+9379G>T c.90257C>A (p.Thr30086Asn) c.64151C>A (p.Thr21384Asn) c.64010C>A (p.Thr21337Asn) c.90053C>A (p.Thr30018Asn) c.85451C>A (p.Thr28484Asn) c.85448C>A (p.Thr28483Asn) c.82490C>A (p.Thr27497Asn) c.64106C>A (p.Thr21369Asn) c.85601C>A (p.Thr28534Asn) c.85598C>A (p.Thr28533Asn) c.85031C>A (p.Thr28344Asn) c.82373C>A (p.Thr27458Asn) c.82292C>A (p.Thr27431Asn) c.64055C>A (p.Thr21352Asn) c.53909C>A (p.Thr17970Asn) | |
| 2 | g.178551741T>A | CA349503352 | TTN,TTN-AS1 | c.83455A>T (p.Thr27819Ser) c.64540A>T (p.Thr21514Ser) c.64339A>T (p.Thr21447Ser) c.63964A>T (p.Thr21322Ser) c.91159A>T (p.Thr30387Ser) c.86236A>T (p.Thr28746Ser) n.447-19559T>A n.2043+9380T>A c.90256A>T (p.Thr30086Ser) c.64150A>T (p.Thr21384Ser) c.64009A>T (p.Thr21337Ser) c.90052A>T (p.Thr30018Ser) c.85450A>T (p.Thr28484Ser) c.85447A>T (p.Thr28483Ser) c.82489A>T (p.Thr27497Ser) c.64105A>T (p.Thr21369Ser) c.85600A>T (p.Thr28534Ser) c.85597A>T (p.Thr28533Ser) c.85030A>T (p.Thr28344Ser) c.82372A>T (p.Thr27458Ser) c.82291A>T (p.Thr27431Ser) c.64054A>T (p.Thr21352Ser) c.53908A>T (p.Thr17970Ser) | dbSNP |
| 2 | g.178551741T>C | CA349503355 | TTN,TTN-AS1 | c.83455A>G (p.Thr27819Ala) c.64540A>G (p.Thr21514Ala) c.64339A>G (p.Thr21447Ala) c.63964A>G (p.Thr21322Ala) c.91159A>G (p.Thr30387Ala) c.86236A>G (p.Thr28746Ala) n.447-19559T>C n.2043+9380T>C c.90256A>G (p.Thr30086Ala) c.64150A>G (p.Thr21384Ala) c.64009A>G (p.Thr21337Ala) c.90052A>G (p.Thr30018Ala) c.85450A>G (p.Thr28484Ala) c.85447A>G (p.Thr28483Ala) c.82489A>G (p.Thr27497Ala) c.64105A>G (p.Thr21369Ala) c.85600A>G (p.Thr28534Ala) c.85597A>G (p.Thr28533Ala) c.85030A>G (p.Thr28344Ala) c.82372A>G (p.Thr27458Ala) c.82291A>G (p.Thr27431Ala) c.64054A>G (p.Thr21352Ala) c.53908A>G (p.Thr17970Ala) | |
| 2 | g.178551741T>G | CA349503357 | TTN,TTN-AS1 | c.83455A>C (p.Thr27819Pro) c.64540A>C (p.Thr21514Pro) c.64339A>C (p.Thr21447Pro) c.63964A>C (p.Thr21322Pro) c.91159A>C (p.Thr30387Pro) c.86236A>C (p.Thr28746Pro) n.447-19559T>G n.2043+9380T>G c.90256A>C (p.Thr30086Pro) c.64150A>C (p.Thr21384Pro) c.64009A>C (p.Thr21337Pro) c.90052A>C (p.Thr30018Pro) c.85450A>C (p.Thr28484Pro) c.85447A>C (p.Thr28483Pro) c.82489A>C (p.Thr27497Pro) c.64105A>C (p.Thr21369Pro) c.85600A>C (p.Thr28534Pro) c.85597A>C (p.Thr28533Pro) c.85030A>C (p.Thr28344Pro) c.82372A>C (p.Thr27458Pro) c.82291A>C (p.Thr27431Pro) c.64054A>C (p.Thr21352Pro) c.53908A>C (p.Thr17970Pro) | |
| 2 | g.178551741T= | CA1310521189 | TTN,TTN-AS1 | c.83455A= (p.Thr27819=) c.64540A= (p.Thr21514=) c.64339A= (p.Thr21447=) c.63964A= (p.Thr21322=) c.91159A= (p.Thr30387=) c.86236A= (p.Thr28746=) n.447-19559T= n.2043+9380T= c.90256A= (p.Thr30086=) c.64150A= (p.Thr21384=) c.64009A= (p.Thr21337=) c.90052A= (p.Thr30018=) c.85450A= (p.Thr28484=) c.85447A= (p.Thr28483=) c.82489A= (p.Thr27497=) c.64105A= (p.Thr21369=) c.85600A= (p.Thr28534=) c.85597A= (p.Thr28533=) c.85030A= (p.Thr28344=) c.82372A= (p.Thr27458=) c.82291A= (p.Thr27431=) c.64054A= (p.Thr21352=) c.53908A= (p.Thr17970=) | |
| 2 | g.178551742G>A | CA430245151 | TTN,TTN-AS1 | c.83454C>T (p.Ala27818=) c.64539C>T (p.Ala21513=) c.64338C>T (p.Ala21446=) c.63963C>T (p.Ala21321=) c.91158C>T (p.Ala30386=) c.86235C>T (p.Ala28745=) n.447-19558G>A n.2043+9381G>A c.90255C>T (p.Ala30085=) c.64149C>T (p.Ala21383=) c.64008C>T (p.Ala21336=) c.90051C>T (p.Ala30017=) c.85449C>T (p.Ala28483=) c.85446C>T (p.Ala28482=) c.82488C>T (p.Ala27496=) c.64104C>T (p.Ala21368=) c.85599C>T (p.Ala28533=) c.85596C>T (p.Ala28532=) c.85029C>T (p.Ala28343=) c.82371C>T (p.Ala27457=) c.82290C>T (p.Ala27430=) c.64053C>T (p.Ala21351=) c.53907C>T (p.Ala17969=) | ClinVar |
| 2 | g.178551742G>C | CA430245150 | TTN,TTN-AS1 | c.83454C>G (p.Ala27818=) c.64539C>G (p.Ala21513=) c.64338C>G (p.Ala21446=) c.63963C>G (p.Ala21321=) c.91158C>G (p.Ala30386=) c.86235C>G (p.Ala28745=) n.447-19558G>C n.2043+9381G>C c.90255C>G (p.Ala30085=) c.64149C>G (p.Ala21383=) c.64008C>G (p.Ala21336=) c.90051C>G (p.Ala30017=) c.85449C>G (p.Ala28483=) c.85446C>G (p.Ala28482=) c.82488C>G (p.Ala27496=) c.64104C>G (p.Ala21368=) c.85599C>G (p.Ala28533=) c.85596C>G (p.Ala28532=) c.85029C>G (p.Ala28343=) c.82371C>G (p.Ala27457=) c.82290C>G (p.Ala27430=) c.64053C>G (p.Ala21351=) c.53907C>G (p.Ala17969=) | |
| 2 | g.178551742G>T | CA430245149 | TTN,TTN-AS1 | c.83454C>A (p.Ala27818=) c.64539C>A (p.Ala21513=) c.64338C>A (p.Ala21446=) c.63963C>A (p.Ala21321=) c.91158C>A (p.Ala30386=) c.86235C>A (p.Ala28745=) n.447-19558G>T n.2043+9381G>T c.90255C>A (p.Ala30085=) c.64149C>A (p.Ala21383=) c.64008C>A (p.Ala21336=) c.90051C>A (p.Ala30017=) c.85449C>A (p.Ala28483=) c.85446C>A (p.Ala28482=) c.82488C>A (p.Ala27496=) c.64104C>A (p.Ala21368=) c.85599C>A (p.Ala28533=) c.85596C>A (p.Ala28532=) c.85029C>A (p.Ala28343=) c.82371C>A (p.Ala27457=) c.82290C>A (p.Ala27430=) c.64053C>A (p.Ala21351=) c.53907C>A (p.Ala17969=) | gnomAD v4 |
| 2 | g.178551743G>A | CA349503378 | TTN,TTN-AS1 | c.83453C>T (p.Ala27818Val) c.64538C>T (p.Ala21513Val) c.64337C>T (p.Ala21446Val) c.63962C>T (p.Ala21321Val) c.91157C>T (p.Ala30386Val) c.86234C>T (p.Ala28745Val) n.447-19557G>A n.2043+9382G>A c.90254C>T (p.Ala30085Val) c.64148C>T (p.Ala21383Val) c.64007C>T (p.Ala21336Val) c.90050C>T (p.Ala30017Val) c.85448C>T (p.Ala28483Val) c.85445C>T (p.Ala28482Val) c.82487C>T (p.Ala27496Val) c.64103C>T (p.Ala21368Val) c.85598C>T (p.Ala28533Val) c.85595C>T (p.Ala28532Val) c.85028C>T (p.Ala28343Val) c.82370C>T (p.Ala27457Val) c.82289C>T (p.Ala27430Val) c.64052C>T (p.Ala21351Val) c.53906C>T (p.Ala17969Val) | |
| 2 | g.178551743G>C | CA349503359 | TTN,TTN-AS1 | c.83453C>G (p.Ala27818Gly) c.64538C>G (p.Ala21513Gly) c.64337C>G (p.Ala21446Gly) c.63962C>G (p.Ala21321Gly) c.91157C>G (p.Ala30386Gly) c.86234C>G (p.Ala28745Gly) n.447-19557G>C n.2043+9382G>C c.90254C>G (p.Ala30085Gly) c.64148C>G (p.Ala21383Gly) c.64007C>G (p.Ala21336Gly) c.90050C>G (p.Ala30017Gly) c.85448C>G (p.Ala28483Gly) c.85445C>G (p.Ala28482Gly) c.82487C>G (p.Ala27496Gly) c.64103C>G (p.Ala21368Gly) c.85598C>G (p.Ala28533Gly) c.85595C>G (p.Ala28532Gly) c.85028C>G (p.Ala28343Gly) c.82370C>G (p.Ala27457Gly) c.82289C>G (p.Ala27430Gly) c.64052C>G (p.Ala21351Gly) c.53906C>G (p.Ala17969Gly) | gnomAD v4 |
| 2 | g.178551743G>T | CA349503375 | TTN,TTN-AS1 | c.83453C>A (p.Ala27818Asp) c.64538C>A (p.Ala21513Asp) c.64337C>A (p.Ala21446Asp) c.63962C>A (p.Ala21321Asp) c.91157C>A (p.Ala30386Asp) c.86234C>A (p.Ala28745Asp) n.447-19557G>T n.2043+9382G>T c.90254C>A (p.Ala30085Asp) c.64148C>A (p.Ala21383Asp) c.64007C>A (p.Ala21336Asp) c.90050C>A (p.Ala30017Asp) c.85448C>A (p.Ala28483Asp) c.85445C>A (p.Ala28482Asp) c.82487C>A (p.Ala27496Asp) c.64103C>A (p.Ala21368Asp) c.85598C>A (p.Ala28533Asp) c.85595C>A (p.Ala28532Asp) c.85028C>A (p.Ala28343Asp) c.82370C>A (p.Ala27457Asp) c.82289C>A (p.Ala27430Asp) c.64052C>A (p.Ala21351Asp) c.53906C>A (p.Ala17969Asp) | |
| 2 | g.178551744C>A | CA349503381 | TTN,TTN-AS1 | c.83452G>T (p.Ala27818Ser) c.64537G>T (p.Ala21513Ser) c.64336G>T (p.Ala21446Ser) c.63961G>T (p.Ala21321Ser) c.91156G>T (p.Ala30386Ser) c.86233G>T (p.Ala28745Ser) n.447-19556C>A n.2043+9383C>A c.90253G>T (p.Ala30085Ser) c.64147G>T (p.Ala21383Ser) c.64006G>T (p.Ala21336Ser) c.90049G>T (p.Ala30017Ser) c.85447G>T (p.Ala28483Ser) c.85444G>T (p.Ala28482Ser) c.82486G>T (p.Ala27496Ser) c.64102G>T (p.Ala21368Ser) c.85597G>T (p.Ala28533Ser) c.85594G>T (p.Ala28532Ser) c.85027G>T (p.Ala28343Ser) c.82369G>T (p.Ala27457Ser) c.82288G>T (p.Ala27430Ser) c.64051G>T (p.Ala21351Ser) c.53905G>T (p.Ala17969Ser) | |
| 2 | g.178551744C>G | CA349503383 | TTN,TTN-AS1 | c.83452G>C (p.Ala27818Pro) c.64537G>C (p.Ala21513Pro) c.64336G>C (p.Ala21446Pro) c.63961G>C (p.Ala21321Pro) c.91156G>C (p.Ala30386Pro) c.86233G>C (p.Ala28745Pro) n.447-19556C>G n.2043+9383C>G c.90253G>C (p.Ala30085Pro) c.64147G>C (p.Ala21383Pro) c.64006G>C (p.Ala21336Pro) c.90049G>C (p.Ala30017Pro) c.85447G>C (p.Ala28483Pro) c.85444G>C (p.Ala28482Pro) c.82486G>C (p.Ala27496Pro) c.64102G>C (p.Ala21368Pro) c.85597G>C (p.Ala28533Pro) c.85594G>C (p.Ala28532Pro) c.85027G>C (p.Ala28343Pro) c.82369G>C (p.Ala27457Pro) c.82288G>C (p.Ala27430Pro) c.64051G>C (p.Ala21351Pro) c.53905G>C (p.Ala17969Pro) | |
| 2 | g.178551744C>T | CA349503386 | TTN,TTN-AS1 | c.83452G>A (p.Ala27818Thr) c.64537G>A (p.Ala21513Thr) c.64336G>A (p.Ala21446Thr) c.63961G>A (p.Ala21321Thr) c.91156G>A (p.Ala30386Thr) c.86233G>A (p.Ala28745Thr) n.447-19556C>T n.2043+9383C>T c.90253G>A (p.Ala30085Thr) c.64147G>A (p.Ala21383Thr) c.64006G>A (p.Ala21336Thr) c.90049G>A (p.Ala30017Thr) c.85447G>A (p.Ala28483Thr) c.85444G>A (p.Ala28482Thr) c.82486G>A (p.Ala27496Thr) c.64102G>A (p.Ala21368Thr) c.85597G>A (p.Ala28533Thr) c.85594G>A (p.Ala28532Thr) c.85027G>A (p.Ala28343Thr) c.82369G>A (p.Ala27457Thr) c.82288G>A (p.Ala27430Thr) c.64051G>A (p.Ala21351Thr) c.53905G>A (p.Ala17969Thr) | gnomAD v4 |
| 2 | g.178551745T>A | CA349503390 | TTN,TTN-AS1 | c.83451A>T (p.Arg27817Ser) c.64536A>T (p.Arg21512Ser) c.64335A>T (p.Arg21445Ser) c.63960A>T (p.Arg21320Ser) c.91155A>T (p.Arg30385Ser) c.86232A>T (p.Arg28744Ser) n.447-19555T>A n.2043+9384T>A c.90252A>T (p.Arg30084Ser) c.64146A>T (p.Arg21382Ser) c.64005A>T (p.Arg21335Ser) c.90048A>T (p.Arg30016Ser) c.85446A>T (p.Arg28482Ser) c.85443A>T (p.Arg28481Ser) c.82485A>T (p.Arg27495Ser) c.64101A>T (p.Arg21367Ser) c.85596A>T (p.Arg28532Ser) c.85593A>T (p.Arg28531Ser) c.85026A>T (p.Arg28342Ser) c.82368A>T (p.Arg27456Ser) c.82287A>T (p.Arg27429Ser) c.64050A>T (p.Arg21350Ser) c.53904A>T (p.Arg17968Ser) | |
| 2 | g.178551745T>C | CA430245153 | TTN,TTN-AS1 | c.83451A>G (p.Arg27817=) c.64536A>G (p.Arg21512=) c.64335A>G (p.Arg21445=) c.63960A>G (p.Arg21320=) c.91155A>G (p.Arg30385=) c.86232A>G (p.Arg28744=) n.447-19555T>C n.2043+9384T>C c.90252A>G (p.Arg30084=) c.64146A>G (p.Arg21382=) c.64005A>G (p.Arg21335=) c.90048A>G (p.Arg30016=) c.85446A>G (p.Arg28482=) c.85443A>G (p.Arg28481=) c.82485A>G (p.Arg27495=) c.64101A>G (p.Arg21367=) c.85596A>G (p.Arg28532=) c.85593A>G (p.Arg28531=) c.85026A>G (p.Arg28342=) c.82368A>G (p.Arg27456=) c.82287A>G (p.Arg27429=) c.64050A>G (p.Arg21350=) c.53904A>G (p.Arg17968=) | |
| 2 | g.178551745T>G | CA349503392 | TTN,TTN-AS1 | c.83451A>C (p.Arg27817Ser) c.64536A>C (p.Arg21512Ser) c.64335A>C (p.Arg21445Ser) c.63960A>C (p.Arg21320Ser) c.91155A>C (p.Arg30385Ser) c.86232A>C (p.Arg28744Ser) n.447-19555T>G n.2043+9384T>G c.90252A>C (p.Arg30084Ser) c.64146A>C (p.Arg21382Ser) c.64005A>C (p.Arg21335Ser) c.90048A>C (p.Arg30016Ser) c.85446A>C (p.Arg28482Ser) c.85443A>C (p.Arg28481Ser) c.82485A>C (p.Arg27495Ser) c.64101A>C (p.Arg21367Ser) c.85596A>C (p.Arg28532Ser) c.85593A>C (p.Arg28531Ser) c.85026A>C (p.Arg28342Ser) c.82368A>C (p.Arg27456Ser) c.82287A>C (p.Arg27429Ser) c.64050A>C (p.Arg21350Ser) c.53904A>C (p.Arg17968Ser) | |
| 2 | g.178551746C>A | CA349503396 | TTN,TTN-AS1 | c.83450G>T (p.Arg27817Ile) c.64535G>T (p.Arg21512Ile) c.64334G>T (p.Arg21445Ile) c.63959G>T (p.Arg21320Ile) c.91154G>T (p.Arg30385Ile) c.86231G>T (p.Arg28744Ile) n.447-19554C>A n.2043+9385C>A c.90251G>T (p.Arg30084Ile) c.64145G>T (p.Arg21382Ile) c.64004G>T (p.Arg21335Ile) c.90047G>T (p.Arg30016Ile) c.85445G>T (p.Arg28482Ile) c.85442G>T (p.Arg28481Ile) c.82484G>T (p.Arg27495Ile) c.64100G>T (p.Arg21367Ile) c.85595G>T (p.Arg28532Ile) c.85592G>T (p.Arg28531Ile) c.85025G>T (p.Arg28342Ile) c.82367G>T (p.Arg27456Ile) c.82286G>T (p.Arg27429Ile) c.64049G>T (p.Arg21350Ile) c.53903G>T (p.Arg17968Ile) | |
| 2 | g.178551746C= | CA1310521191 | TTN,TTN-AS1 | c.83450G= (p.Arg27817=) c.64535G= (p.Arg21512=) c.64334G= (p.Arg21445=) c.63959G= (p.Arg21320=) c.91154G= (p.Arg30385=) c.86231G= (p.Arg28744=) n.447-19554C= n.2043+9385C= c.90251G= (p.Arg30084=) c.64145G= (p.Arg21382=) c.64004G= (p.Arg21335=) c.90047G= (p.Arg30016=) c.85445G= (p.Arg28482=) c.85442G= (p.Arg28481=) c.82484G= (p.Arg27495=) c.64100G= (p.Arg21367=) c.85595G= (p.Arg28532=) c.85592G= (p.Arg28531=) c.85025G= (p.Arg28342=) c.82367G= (p.Arg27456=) c.82286G= (p.Arg27429=) c.64049G= (p.Arg21350=) c.53903G= (p.Arg17968=) | |
| 2 | g.178551746C>G | CA1987682 | TTN,TTN-AS1 | c.83450G>C (p.Arg27817Thr) c.64535G>C (p.Arg21512Thr) c.64334G>C (p.Arg21445Thr) c.63959G>C (p.Arg21320Thr) c.91154G>C (p.Arg30385Thr) c.86231G>C (p.Arg28744Thr) n.447-19554C>G n.2043+9385C>G c.90251G>C (p.Arg30084Thr) c.64145G>C (p.Arg21382Thr) c.64004G>C (p.Arg21335Thr) c.90047G>C (p.Arg30016Thr) c.85445G>C (p.Arg28482Thr) c.85442G>C (p.Arg28481Thr) c.82484G>C (p.Arg27495Thr) c.64100G>C (p.Arg21367Thr) c.85595G>C (p.Arg28532Thr) c.85592G>C (p.Arg28531Thr) c.85025G>C (p.Arg28342Thr) c.82367G>C (p.Arg27456Thr) c.82286G>C (p.Arg27429Thr) c.64049G>C (p.Arg21350Thr) c.53903G>C (p.Arg17968Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178551746C>T | CA349503402 | TTN,TTN-AS1 | c.83450G>A (p.Arg27817Lys) c.64535G>A (p.Arg21512Lys) c.64334G>A (p.Arg21445Lys) c.63959G>A (p.Arg21320Lys) c.91154G>A (p.Arg30385Lys) c.86231G>A (p.Arg28744Lys) n.447-19554C>T n.2043+9385C>T c.90251G>A (p.Arg30084Lys) c.64145G>A (p.Arg21382Lys) c.64004G>A (p.Arg21335Lys) c.90047G>A (p.Arg30016Lys) c.85445G>A (p.Arg28482Lys) c.85442G>A (p.Arg28481Lys) c.82484G>A (p.Arg27495Lys) c.64100G>A (p.Arg21367Lys) c.85595G>A (p.Arg28532Lys) c.85592G>A (p.Arg28531Lys) c.85025G>A (p.Arg28342Lys) c.82367G>A (p.Arg27456Lys) c.82286G>A (p.Arg27429Lys) c.64049G>A (p.Arg21350Lys) c.53903G>A (p.Arg17968Lys) | |
| 2 | g.178551747T>A | CA349503409 | TTN,TTN-AS1 | c.83449A>T (p.Arg27817Ter) c.64534A>T (p.Arg21512Ter) c.64333A>T (p.Arg21445Ter) c.63958A>T (p.Arg21320Ter) c.91153A>T (p.Arg30385Ter) c.86230A>T (p.Arg28744Ter) n.447-19553T>A n.2043+9386T>A c.90250A>T (p.Arg30084Ter) c.64144A>T (p.Arg21382Ter) c.64003A>T (p.Arg21335Ter) c.90046A>T (p.Arg30016Ter) c.85444A>T (p.Arg28482Ter) c.85441A>T (p.Arg28481Ter) c.82483A>T (p.Arg27495Ter) c.64099A>T (p.Arg21367Ter) c.85594A>T (p.Arg28532Ter) c.85591A>T (p.Arg28531Ter) c.85024A>T (p.Arg28342Ter) c.82366A>T (p.Arg27456Ter) c.82285A>T (p.Arg27429Ter) c.64048A>T (p.Arg21350Ter) c.53902A>T (p.Arg17968Ter) | |
| 2 | g.178551747T>C | CA60977136 | TTN,TTN-AS1 | c.83449A>G (p.Arg27817Gly) c.64534A>G (p.Arg21512Gly) c.64333A>G (p.Arg21445Gly) c.63958A>G (p.Arg21320Gly) c.91153A>G (p.Arg30385Gly) c.86230A>G (p.Arg28744Gly) n.447-19553T>C n.2043+9386T>C c.90250A>G (p.Arg30084Gly) c.64144A>G (p.Arg21382Gly) c.64003A>G (p.Arg21335Gly) c.90046A>G (p.Arg30016Gly) c.85444A>G (p.Arg28482Gly) c.85441A>G (p.Arg28481Gly) c.82483A>G (p.Arg27495Gly) c.64099A>G (p.Arg21367Gly) c.85594A>G (p.Arg28532Gly) c.85591A>G (p.Arg28531Gly) c.85024A>G (p.Arg28342Gly) c.82366A>G (p.Arg27456Gly) c.82285A>G (p.Arg27429Gly) c.64048A>G (p.Arg21350Gly) c.53902A>G (p.Arg17968Gly) | dbSNP |
| 2 | g.178551747T>G | CA430245155 | TTN,TTN-AS1 | c.83449A>C (p.Arg27817=) c.64534A>C (p.Arg21512=) c.64333A>C (p.Arg21445=) c.63958A>C (p.Arg21320=) c.91153A>C (p.Arg30385=) c.86230A>C (p.Arg28744=) n.447-19553T>G n.2043+9386T>G c.90250A>C (p.Arg30084=) c.64144A>C (p.Arg21382=) c.64003A>C (p.Arg21335=) c.90046A>C (p.Arg30016=) c.85444A>C (p.Arg28482=) c.85441A>C (p.Arg28481=) c.82483A>C (p.Arg27495=) c.64099A>C (p.Arg21367=) c.85594A>C (p.Arg28532=) c.85591A>C (p.Arg28531=) c.85024A>C (p.Arg28342=) c.82366A>C (p.Arg27456=) c.82285A>C (p.Arg27429=) c.64048A>C (p.Arg21350=) c.53902A>C (p.Arg17968=) | |
| 2 | g.178551747T= | CA1310521193 | TTN,TTN-AS1 | c.83449A= (p.Arg27817=) c.64534A= (p.Arg21512=) c.64333A= (p.Arg21445=) c.63958A= (p.Arg21320=) c.91153A= (p.Arg30385=) c.86230A= (p.Arg28744=) n.447-19553T= n.2043+9386T= c.90250A= (p.Arg30084=) c.64144A= (p.Arg21382=) c.64003A= (p.Arg21335=) c.90046A= (p.Arg30016=) c.85444A= (p.Arg28482=) c.85441A= (p.Arg28481=) c.82483A= (p.Arg27495=) c.64099A= (p.Arg21367=) c.85594A= (p.Arg28532=) c.85591A= (p.Arg28531=) c.85024A= (p.Arg28342=) c.82366A= (p.Arg27456=) c.82285A= (p.Arg27429=) c.64048A= (p.Arg21350=) c.53902A= (p.Arg17968=) |