| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178537063G>A | CA349426880 | TTN,TTN-AS1 | c.92342C>T (p.Thr30781Ile) c.73427C>T (p.Thr24476Ile) c.73226C>T (p.Thr24409Ile) c.72851C>T (p.Thr24284Ile) c.100046C>T (p.Thr33349Ile) c.95123C>T (p.Thr31708Ile) n.446+13427G>A n.317-298G>A c.99143C>T (p.Thr33048Ile) c.73037C>T (p.Thr24346Ile) c.72896C>T (p.Thr24299Ile) c.98939C>T (p.Thr32980Ile) c.94337C>T (p.Thr31446Ile) c.94334C>T (p.Thr31445Ile) c.91376C>T (p.Thr30459Ile) c.72992C>T (p.Thr24331Ile) c.94487C>T (p.Thr31496Ile) c.94484C>T (p.Thr31495Ile) c.93917C>T (p.Thr31306Ile) c.91259C>T (p.Thr30420Ile) c.91178C>T (p.Thr30393Ile) c.72941C>T (p.Thr24314Ile) c.62795C>T (p.Thr20932Ile) | |
| 2 | g.178537063G>C | CA349426881 | TTN,TTN-AS1 | c.92342C>G (p.Thr30781Arg) c.73427C>G (p.Thr24476Arg) c.73226C>G (p.Thr24409Arg) c.72851C>G (p.Thr24284Arg) c.100046C>G (p.Thr33349Arg) c.95123C>G (p.Thr31708Arg) n.446+13427G>C n.317-298G>C c.99143C>G (p.Thr33048Arg) c.73037C>G (p.Thr24346Arg) c.72896C>G (p.Thr24299Arg) c.98939C>G (p.Thr32980Arg) c.94337C>G (p.Thr31446Arg) c.94334C>G (p.Thr31445Arg) c.91376C>G (p.Thr30459Arg) c.72992C>G (p.Thr24331Arg) c.94487C>G (p.Thr31496Arg) c.94484C>G (p.Thr31495Arg) c.93917C>G (p.Thr31306Arg) c.91259C>G (p.Thr30420Arg) c.91178C>G (p.Thr30393Arg) c.72941C>G (p.Thr24314Arg) c.62795C>G (p.Thr20932Arg) | |
| 2 | g.178537063G>T | CA349426882 | TTN,TTN-AS1 | c.92342C>A (p.Thr30781Lys) c.73427C>A (p.Thr24476Lys) c.73226C>A (p.Thr24409Lys) c.72851C>A (p.Thr24284Lys) c.100046C>A (p.Thr33349Lys) c.95123C>A (p.Thr31708Lys) n.446+13427G>T n.317-298G>T c.99143C>A (p.Thr33048Lys) c.73037C>A (p.Thr24346Lys) c.72896C>A (p.Thr24299Lys) c.98939C>A (p.Thr32980Lys) c.94337C>A (p.Thr31446Lys) c.94334C>A (p.Thr31445Lys) c.91376C>A (p.Thr30459Lys) c.72992C>A (p.Thr24331Lys) c.94487C>A (p.Thr31496Lys) c.94484C>A (p.Thr31495Lys) c.93917C>A (p.Thr31306Lys) c.91259C>A (p.Thr30420Lys) c.91178C>A (p.Thr30393Lys) c.72941C>A (p.Thr24314Lys) c.62795C>A (p.Thr20932Lys) | |
| 2 | g.178537064T>A | CA349426883 | TTN,TTN-AS1 | c.92341A>T (p.Thr30781Ser) c.73426A>T (p.Thr24476Ser) c.73225A>T (p.Thr24409Ser) c.72850A>T (p.Thr24284Ser) c.100045A>T (p.Thr33349Ser) c.95122A>T (p.Thr31708Ser) n.446+13428T>A n.317-297T>A c.99142A>T (p.Thr33048Ser) c.73036A>T (p.Thr24346Ser) c.72895A>T (p.Thr24299Ser) c.98938A>T (p.Thr32980Ser) c.94336A>T (p.Thr31446Ser) c.94333A>T (p.Thr31445Ser) c.91375A>T (p.Thr30459Ser) c.72991A>T (p.Thr24331Ser) c.94486A>T (p.Thr31496Ser) c.94483A>T (p.Thr31495Ser) c.93916A>T (p.Thr31306Ser) c.91258A>T (p.Thr30420Ser) c.91177A>T (p.Thr30393Ser) c.72940A>T (p.Thr24314Ser) c.62794A>T (p.Thr20932Ser) | |
| 2 | g.178537064T>C | CA349426884 | TTN,TTN-AS1 | c.92341A>G (p.Thr30781Ala) c.73426A>G (p.Thr24476Ala) c.73225A>G (p.Thr24409Ala) c.72850A>G (p.Thr24284Ala) c.100045A>G (p.Thr33349Ala) c.95122A>G (p.Thr31708Ala) n.446+13428T>C n.317-297T>C c.99142A>G (p.Thr33048Ala) c.73036A>G (p.Thr24346Ala) c.72895A>G (p.Thr24299Ala) c.98938A>G (p.Thr32980Ala) c.94336A>G (p.Thr31446Ala) c.94333A>G (p.Thr31445Ala) c.91375A>G (p.Thr30459Ala) c.72991A>G (p.Thr24331Ala) c.94486A>G (p.Thr31496Ala) c.94483A>G (p.Thr31495Ala) c.93916A>G (p.Thr31306Ala) c.91258A>G (p.Thr30420Ala) c.91177A>G (p.Thr30393Ala) c.72940A>G (p.Thr24314Ala) c.62794A>G (p.Thr20932Ala) | |
| 2 | g.178537064T>G | CA349426885 | TTN,TTN-AS1 | c.92341A>C (p.Thr30781Pro) c.73426A>C (p.Thr24476Pro) c.73225A>C (p.Thr24409Pro) c.72850A>C (p.Thr24284Pro) c.100045A>C (p.Thr33349Pro) c.95122A>C (p.Thr31708Pro) n.446+13428T>G n.317-297T>G c.99142A>C (p.Thr33048Pro) c.73036A>C (p.Thr24346Pro) c.72895A>C (p.Thr24299Pro) c.98938A>C (p.Thr32980Pro) c.94336A>C (p.Thr31446Pro) c.94333A>C (p.Thr31445Pro) c.91375A>C (p.Thr30459Pro) c.72991A>C (p.Thr24331Pro) c.94486A>C (p.Thr31496Pro) c.94483A>C (p.Thr31495Pro) c.93916A>C (p.Thr31306Pro) c.91258A>C (p.Thr30420Pro) c.91177A>C (p.Thr30393Pro) c.72940A>C (p.Thr24314Pro) c.62794A>C (p.Thr20932Pro) | |
| 2 | g.178537065C>A | CA430238933 | TTN,TTN-AS1 | c.92340G>T (p.Val30780=) c.73425G>T (p.Val24475=) c.73224G>T (p.Val24408=) c.72849G>T (p.Val24283=) c.100044G>T (p.Val33348=) c.95121G>T (p.Val31707=) n.446+13429C>A n.317-296C>A c.99141G>T (p.Val33047=) c.73035G>T (p.Val24345=) c.72894G>T (p.Val24298=) c.98937G>T (p.Val32979=) c.94335G>T (p.Val31445=) c.94332G>T (p.Val31444=) c.91374G>T (p.Val30458=) c.72990G>T (p.Val24330=) c.94485G>T (p.Val31495=) c.94482G>T (p.Val31494=) c.93915G>T (p.Val31305=) c.91257G>T (p.Val30419=) c.91176G>T (p.Val30392=) c.72939G>T (p.Val24313=) c.62793G>T (p.Val20931=) | |
| 2 | g.178537065C= | CA1310515186 | TTN,TTN-AS1 | c.92340G= (p.Val30780=) c.73425G= (p.Val24475=) c.73224G= (p.Val24408=) c.72849G= (p.Val24283=) c.100044G= (p.Val33348=) c.95121G= (p.Val31707=) n.446+13429C= n.317-296C= c.99141G= (p.Val33047=) c.73035G= (p.Val24345=) c.72894G= (p.Val24298=) c.98937G= (p.Val32979=) c.94335G= (p.Val31445=) c.94332G= (p.Val31444=) c.91374G= (p.Val30458=) c.72990G= (p.Val24330=) c.94485G= (p.Val31495=) c.94482G= (p.Val31494=) c.93915G= (p.Val31305=) c.91257G= (p.Val30419=) c.91176G= (p.Val30392=) c.72939G= (p.Val24313=) c.62793G= (p.Val20931=) | |
| 2 | g.178537065C>G | CA430238934 | TTN,TTN-AS1 | c.92340G>C (p.Val30780=) c.73425G>C (p.Val24475=) c.73224G>C (p.Val24408=) c.72849G>C (p.Val24283=) c.100044G>C (p.Val33348=) c.95121G>C (p.Val31707=) n.446+13429C>G n.317-296C>G c.99141G>C (p.Val33047=) c.73035G>C (p.Val24345=) c.72894G>C (p.Val24298=) c.98937G>C (p.Val32979=) c.94335G>C (p.Val31445=) c.94332G>C (p.Val31444=) c.91374G>C (p.Val30458=) c.72990G>C (p.Val24330=) c.94485G>C (p.Val31495=) c.94482G>C (p.Val31494=) c.93915G>C (p.Val31305=) c.91257G>C (p.Val30419=) c.91176G>C (p.Val30392=) c.72939G>C (p.Val24313=) c.62793G>C (p.Val20931=) | |
| 2 | g.178537065C>T | CA60961213 | TTN,TTN-AS1 | c.92340G>A (p.Val30780=) c.73425G>A (p.Val24475=) c.73224G>A (p.Val24408=) c.72849G>A (p.Val24283=) c.100044G>A (p.Val33348=) c.95121G>A (p.Val31707=) n.446+13429C>T n.317-296C>T c.99141G>A (p.Val33047=) c.73035G>A (p.Val24345=) c.72894G>A (p.Val24298=) c.98937G>A (p.Val32979=) c.94335G>A (p.Val31445=) c.94332G>A (p.Val31444=) c.91374G>A (p.Val30458=) c.72990G>A (p.Val24330=) c.94485G>A (p.Val31495=) c.94482G>A (p.Val31494=) c.93915G>A (p.Val31305=) c.91257G>A (p.Val30419=) c.91176G>A (p.Val30392=) c.72939G>A (p.Val24313=) c.62793G>A (p.Val20931=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178537066A= | CA1310515187 | TTN,TTN-AS1 | c.92339T= (p.Val30780=) c.73424T= (p.Val24475=) c.73223T= (p.Val24408=) c.72848T= (p.Val24283=) c.100043T= (p.Val33348=) c.95120T= (p.Val31707=) n.446+13430A= n.317-295A= c.99140T= (p.Val33047=) c.73034T= (p.Val24345=) c.72893T= (p.Val24298=) c.98936T= (p.Val32979=) c.94334T= (p.Val31445=) c.94331T= (p.Val31444=) c.91373T= (p.Val30458=) c.72989T= (p.Val24330=) c.94484T= (p.Val31495=) c.94481T= (p.Val31494=) c.93914T= (p.Val31305=) c.91256T= (p.Val30419=) c.91175T= (p.Val30392=) c.72938T= (p.Val24313=) c.62792T= (p.Val20931=) | |
| 2 | g.178537066A>C | CA349426886 | TTN,TTN-AS1 | c.92339T>G (p.Val30780Gly) c.73424T>G (p.Val24475Gly) c.73223T>G (p.Val24408Gly) c.72848T>G (p.Val24283Gly) c.100043T>G (p.Val33348Gly) c.95120T>G (p.Val31707Gly) n.446+13430A>C n.317-295A>C c.99140T>G (p.Val33047Gly) c.73034T>G (p.Val24345Gly) c.72893T>G (p.Val24298Gly) c.98936T>G (p.Val32979Gly) c.94334T>G (p.Val31445Gly) c.94331T>G (p.Val31444Gly) c.91373T>G (p.Val30458Gly) c.72989T>G (p.Val24330Gly) c.94484T>G (p.Val31495Gly) c.94481T>G (p.Val31494Gly) c.93914T>G (p.Val31305Gly) c.91256T>G (p.Val30419Gly) c.91175T>G (p.Val30392Gly) c.72938T>G (p.Val24313Gly) c.62792T>G (p.Val20931Gly) | |
| 2 | g.178537066A>G | CA60961216 | TTN,TTN-AS1 | c.92339T>C (p.Val30780Ala) c.73424T>C (p.Val24475Ala) c.73223T>C (p.Val24408Ala) c.72848T>C (p.Val24283Ala) c.100043T>C (p.Val33348Ala) c.95120T>C (p.Val31707Ala) n.446+13430A>G n.317-295A>G c.99140T>C (p.Val33047Ala) c.73034T>C (p.Val24345Ala) c.72893T>C (p.Val24298Ala) c.98936T>C (p.Val32979Ala) c.94334T>C (p.Val31445Ala) c.94331T>C (p.Val31444Ala) c.91373T>C (p.Val30458Ala) c.72989T>C (p.Val24330Ala) c.94484T>C (p.Val31495Ala) c.94481T>C (p.Val31494Ala) c.93914T>C (p.Val31305Ala) c.91256T>C (p.Val30419Ala) c.91175T>C (p.Val30392Ala) c.72938T>C (p.Val24313Ala) c.62792T>C (p.Val20931Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178537066A>T | CA349426887 | TTN,TTN-AS1 | c.92339T>A (p.Val30780Glu) c.73424T>A (p.Val24475Glu) c.73223T>A (p.Val24408Glu) c.72848T>A (p.Val24283Glu) c.100043T>A (p.Val33348Glu) c.95120T>A (p.Val31707Glu) n.446+13430A>T n.317-295A>T c.99140T>A (p.Val33047Glu) c.73034T>A (p.Val24345Glu) c.72893T>A (p.Val24298Glu) c.98936T>A (p.Val32979Glu) c.94334T>A (p.Val31445Glu) c.94331T>A (p.Val31444Glu) c.91373T>A (p.Val30458Glu) c.72989T>A (p.Val24330Glu) c.94484T>A (p.Val31495Glu) c.94481T>A (p.Val31494Glu) c.93914T>A (p.Val31305Glu) c.91256T>A (p.Val30419Glu) c.91175T>A (p.Val30392Glu) c.72938T>A (p.Val24313Glu) c.62792T>A (p.Val20931Glu) | |
| 2 | g.178537067C>A | CA349426889 | TTN,TTN-AS1 | c.92338G>T (p.Val30780Leu) c.73423G>T (p.Val24475Leu) c.73222G>T (p.Val24408Leu) c.72847G>T (p.Val24283Leu) c.100042G>T (p.Val33348Leu) c.95119G>T (p.Val31707Leu) n.446+13431C>A n.317-294C>A c.99139G>T (p.Val33047Leu) c.73033G>T (p.Val24345Leu) c.72892G>T (p.Val24298Leu) c.98935G>T (p.Val32979Leu) c.94333G>T (p.Val31445Leu) c.94330G>T (p.Val31444Leu) c.91372G>T (p.Val30458Leu) c.72988G>T (p.Val24330Leu) c.94483G>T (p.Val31495Leu) c.94480G>T (p.Val31494Leu) c.93913G>T (p.Val31305Leu) c.91255G>T (p.Val30419Leu) c.91174G>T (p.Val30392Leu) c.72937G>T (p.Val24313Leu) c.62791G>T (p.Val20931Leu) | |
| 2 | g.178537067C= | CA1310515189 | TTN,TTN-AS1 | c.92338G= (p.Val30780=) c.73423G= (p.Val24475=) c.73222G= (p.Val24408=) c.72847G= (p.Val24283=) c.100042G= (p.Val33348=) c.95119G= (p.Val31707=) n.446+13431C= n.317-294C= c.99139G= (p.Val33047=) c.73033G= (p.Val24345=) c.72892G= (p.Val24298=) c.98935G= (p.Val32979=) c.94333G= (p.Val31445=) c.94330G= (p.Val31444=) c.91372G= (p.Val30458=) c.72988G= (p.Val24330=) c.94483G= (p.Val31495=) c.94480G= (p.Val31494=) c.93913G= (p.Val31305=) c.91255G= (p.Val30419=) c.91174G= (p.Val30392=) c.72937G= (p.Val24313=) c.62791G= (p.Val20931=) | |
| 2 | g.178537067C>G | CA349426888 | TTN,TTN-AS1 | c.92338G>C (p.Val30780Leu) c.73423G>C (p.Val24475Leu) c.73222G>C (p.Val24408Leu) c.72847G>C (p.Val24283Leu) c.100042G>C (p.Val33348Leu) c.95119G>C (p.Val31707Leu) n.446+13431C>G n.317-294C>G c.99139G>C (p.Val33047Leu) c.73033G>C (p.Val24345Leu) c.72892G>C (p.Val24298Leu) c.98935G>C (p.Val32979Leu) c.94333G>C (p.Val31445Leu) c.94330G>C (p.Val31444Leu) c.91372G>C (p.Val30458Leu) c.72988G>C (p.Val24330Leu) c.94483G>C (p.Val31495Leu) c.94480G>C (p.Val31494Leu) c.93913G>C (p.Val31305Leu) c.91255G>C (p.Val30419Leu) c.91174G>C (p.Val30392Leu) c.72937G>C (p.Val24313Leu) c.62791G>C (p.Val20931Leu) | |
| 2 | g.178537067C>T | CA1986086 | TTN,TTN-AS1 | c.92338G>A (p.Val30780Met) c.73423G>A (p.Val24475Met) c.73222G>A (p.Val24408Met) c.72847G>A (p.Val24283Met) c.100042G>A (p.Val33348Met) c.95119G>A (p.Val31707Met) n.446+13431C>T n.317-294C>T c.99139G>A (p.Val33047Met) c.73033G>A (p.Val24345Met) c.72892G>A (p.Val24298Met) c.98935G>A (p.Val32979Met) c.94333G>A (p.Val31445Met) c.94330G>A (p.Val31444Met) c.91372G>A (p.Val30458Met) c.72988G>A (p.Val24330Met) c.94483G>A (p.Val31495Met) c.94480G>A (p.Val31494Met) c.93913G>A (p.Val31305Met) c.91255G>A (p.Val30419Met) c.91174G>A (p.Val30392Met) c.72937G>A (p.Val24313Met) c.62791G>A (p.Val20931Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178537068T>A | CA430238940 | TTN,TTN-AS1 | c.92337A>T (p.Ser30779=) c.73422A>T (p.Ser24474=) c.73221A>T (p.Ser24407=) c.72846A>T (p.Ser24282=) c.100041A>T (p.Ser33347=) c.95118A>T (p.Ser31706=) n.446+13432T>A n.317-293T>A c.99138A>T (p.Ser33046=) c.73032A>T (p.Ser24344=) c.72891A>T (p.Ser24297=) c.98934A>T (p.Ser32978=) c.94332A>T (p.Ser31444=) c.94329A>T (p.Ser31443=) c.91371A>T (p.Ser30457=) c.72987A>T (p.Ser24329=) c.94482A>T (p.Ser31494=) c.94479A>T (p.Ser31493=) c.93912A>T (p.Ser31304=) c.91254A>T (p.Ser30418=) c.91173A>T (p.Ser30391=) c.72936A>T (p.Ser24312=) c.62790A>T (p.Ser20930=) | |
| 2 | g.178537068T>C | CA430238941 | TTN,TTN-AS1 | c.92337A>G (p.Ser30779=) c.73422A>G (p.Ser24474=) c.73221A>G (p.Ser24407=) c.72846A>G (p.Ser24282=) c.100041A>G (p.Ser33347=) c.95118A>G (p.Ser31706=) n.446+13432T>C n.317-293T>C c.99138A>G (p.Ser33046=) c.73032A>G (p.Ser24344=) c.72891A>G (p.Ser24297=) c.98934A>G (p.Ser32978=) c.94332A>G (p.Ser31444=) c.94329A>G (p.Ser31443=) c.91371A>G (p.Ser30457=) c.72987A>G (p.Ser24329=) c.94482A>G (p.Ser31494=) c.94479A>G (p.Ser31493=) c.93912A>G (p.Ser31304=) c.91254A>G (p.Ser30418=) c.91173A>G (p.Ser30391=) c.72936A>G (p.Ser24312=) c.62790A>G (p.Ser20930=) | |
| 2 | g.178537068T>G | CA430238942 | TTN,TTN-AS1 | c.92337A>C (p.Ser30779=) c.73422A>C (p.Ser24474=) c.73221A>C (p.Ser24407=) c.72846A>C (p.Ser24282=) c.100041A>C (p.Ser33347=) c.95118A>C (p.Ser31706=) n.446+13432T>G n.317-293T>G c.99138A>C (p.Ser33046=) c.73032A>C (p.Ser24344=) c.72891A>C (p.Ser24297=) c.98934A>C (p.Ser32978=) c.94332A>C (p.Ser31444=) c.94329A>C (p.Ser31443=) c.91371A>C (p.Ser30457=) c.72987A>C (p.Ser24329=) c.94482A>C (p.Ser31494=) c.94479A>C (p.Ser31493=) c.93912A>C (p.Ser31304=) c.91254A>C (p.Ser30418=) c.91173A>C (p.Ser30391=) c.72936A>C (p.Ser24312=) c.62790A>C (p.Ser20930=) | |
| 2 | g.178537069G>A | CA349426890 | TTN,TTN-AS1 | c.92336C>T (p.Ser30779Leu) c.73421C>T (p.Ser24474Leu) c.73220C>T (p.Ser24407Leu) c.72845C>T (p.Ser24282Leu) c.100040C>T (p.Ser33347Leu) c.95117C>T (p.Ser31706Leu) n.446+13433G>A n.317-292G>A c.99137C>T (p.Ser33046Leu) c.73031C>T (p.Ser24344Leu) c.72890C>T (p.Ser24297Leu) c.98933C>T (p.Ser32978Leu) c.94331C>T (p.Ser31444Leu) c.94328C>T (p.Ser31443Leu) c.91370C>T (p.Ser30457Leu) c.72986C>T (p.Ser24329Leu) c.94481C>T (p.Ser31494Leu) c.94478C>T (p.Ser31493Leu) c.93911C>T (p.Ser31304Leu) c.91253C>T (p.Ser30418Leu) c.91172C>T (p.Ser30391Leu) c.72935C>T (p.Ser24312Leu) c.62789C>T (p.Ser20930Leu) | |
| 2 | g.178537069G>C | CA349426891 | TTN,TTN-AS1 | c.92336C>G (p.Ser30779Ter) c.73421C>G (p.Ser24474Ter) c.73220C>G (p.Ser24407Ter) c.72845C>G (p.Ser24282Ter) c.100040C>G (p.Ser33347Ter) c.95117C>G (p.Ser31706Ter) n.446+13433G>C n.317-292G>C c.99137C>G (p.Ser33046Ter) c.73031C>G (p.Ser24344Ter) c.72890C>G (p.Ser24297Ter) c.98933C>G (p.Ser32978Ter) c.94331C>G (p.Ser31444Ter) c.94328C>G (p.Ser31443Ter) c.91370C>G (p.Ser30457Ter) c.72986C>G (p.Ser24329Ter) c.94481C>G (p.Ser31494Ter) c.94478C>G (p.Ser31493Ter) c.93911C>G (p.Ser31304Ter) c.91253C>G (p.Ser30418Ter) c.91172C>G (p.Ser30391Ter) c.72935C>G (p.Ser24312Ter) c.62789C>G (p.Ser20930Ter) | |
| 2 | g.178537069G>T | CA349426892 | TTN,TTN-AS1 | c.92336C>A (p.Ser30779Ter) c.73421C>A (p.Ser24474Ter) c.73220C>A (p.Ser24407Ter) c.72845C>A (p.Ser24282Ter) c.100040C>A (p.Ser33347Ter) c.95117C>A (p.Ser31706Ter) n.446+13433G>T n.317-292G>T c.99137C>A (p.Ser33046Ter) c.73031C>A (p.Ser24344Ter) c.72890C>A (p.Ser24297Ter) c.98933C>A (p.Ser32978Ter) c.94331C>A (p.Ser31444Ter) c.94328C>A (p.Ser31443Ter) c.91370C>A (p.Ser30457Ter) c.72986C>A (p.Ser24329Ter) c.94481C>A (p.Ser31494Ter) c.94478C>A (p.Ser31493Ter) c.93911C>A (p.Ser31304Ter) c.91253C>A (p.Ser30418Ter) c.91172C>A (p.Ser30391Ter) c.72935C>A (p.Ser24312Ter) c.62789C>A (p.Ser20930Ter) | |
| 2 | g.178537070A= | CA1310515190 | TTN,TTN-AS1 | c.92335T= (p.Ser30779=) c.73420T= (p.Ser24474=) c.73219T= (p.Ser24407=) c.72844T= (p.Ser24282=) c.100039T= (p.Ser33347=) c.95116T= (p.Ser31706=) n.446+13434A= n.317-291A= c.99136T= (p.Ser33046=) c.73030T= (p.Ser24344=) c.72889T= (p.Ser24297=) c.98932T= (p.Ser32978=) c.94330T= (p.Ser31444=) c.94327T= (p.Ser31443=) c.91369T= (p.Ser30457=) c.72985T= (p.Ser24329=) c.94480T= (p.Ser31494=) c.94477T= (p.Ser31493=) c.93910T= (p.Ser31304=) c.91252T= (p.Ser30418=) c.91171T= (p.Ser30391=) c.72934T= (p.Ser24312=) c.62788T= (p.Ser20930=) | |
| 2 | g.178537070A>C | CA349426893 | TTN,TTN-AS1 | c.92335T>G (p.Ser30779Ala) c.73420T>G (p.Ser24474Ala) c.73219T>G (p.Ser24407Ala) c.72844T>G (p.Ser24282Ala) c.100039T>G (p.Ser33347Ala) c.95116T>G (p.Ser31706Ala) n.446+13434A>C n.317-291A>C c.99136T>G (p.Ser33046Ala) c.73030T>G (p.Ser24344Ala) c.72889T>G (p.Ser24297Ala) c.98932T>G (p.Ser32978Ala) c.94330T>G (p.Ser31444Ala) c.94327T>G (p.Ser31443Ala) c.91369T>G (p.Ser30457Ala) c.72985T>G (p.Ser24329Ala) c.94480T>G (p.Ser31494Ala) c.94477T>G (p.Ser31493Ala) c.93910T>G (p.Ser31304Ala) c.91252T>G (p.Ser30418Ala) c.91171T>G (p.Ser30391Ala) c.72934T>G (p.Ser24312Ala) c.62788T>G (p.Ser20930Ala) | |
| 2 | g.178537070A>G | CA349426894 | TTN,TTN-AS1 | c.92335T>C (p.Ser30779Pro) c.73420T>C (p.Ser24474Pro) c.73219T>C (p.Ser24407Pro) c.72844T>C (p.Ser24282Pro) c.100039T>C (p.Ser33347Pro) c.95116T>C (p.Ser31706Pro) n.446+13434A>G n.317-291A>G c.99136T>C (p.Ser33046Pro) c.73030T>C (p.Ser24344Pro) c.72889T>C (p.Ser24297Pro) c.98932T>C (p.Ser32978Pro) c.94330T>C (p.Ser31444Pro) c.94327T>C (p.Ser31443Pro) c.91369T>C (p.Ser30457Pro) c.72985T>C (p.Ser24329Pro) c.94480T>C (p.Ser31494Pro) c.94477T>C (p.Ser31493Pro) c.93910T>C (p.Ser31304Pro) c.91252T>C (p.Ser30418Pro) c.91171T>C (p.Ser30391Pro) c.72934T>C (p.Ser24312Pro) c.62788T>C (p.Ser20930Pro) | dbSNP gnomAD v4 |
| 2 | g.178537070A>T | CA349426895 | TTN,TTN-AS1 | c.92335T>A (p.Ser30779Thr) c.73420T>A (p.Ser24474Thr) c.73219T>A (p.Ser24407Thr) c.72844T>A (p.Ser24282Thr) c.100039T>A (p.Ser33347Thr) c.95116T>A (p.Ser31706Thr) n.446+13434A>T n.317-291A>T c.99136T>A (p.Ser33046Thr) c.73030T>A (p.Ser24344Thr) c.72889T>A (p.Ser24297Thr) c.98932T>A (p.Ser32978Thr) c.94330T>A (p.Ser31444Thr) c.94327T>A (p.Ser31443Thr) c.91369T>A (p.Ser30457Thr) c.72985T>A (p.Ser24329Thr) c.94480T>A (p.Ser31494Thr) c.94477T>A (p.Ser31493Thr) c.93910T>A (p.Ser31304Thr) c.91252T>A (p.Ser30418Thr) c.91171T>A (p.Ser30391Thr) c.72934T>A (p.Ser24312Thr) c.62788T>A (p.Ser20930Thr) | |
| 2 | g.178537071G>A | CA430238950 | TTN,TTN-AS1 | c.92334C>T (p.Ile30778=) c.73419C>T (p.Ile24473=) c.73218C>T (p.Ile24406=) c.72843C>T (p.Ile24281=) c.100038C>T (p.Ile33346=) c.95115C>T (p.Ile31705=) n.446+13435G>A n.317-290G>A c.99135C>T (p.Ile33045=) c.73029C>T (p.Ile24343=) c.72888C>T (p.Ile24296=) c.98931C>T (p.Ile32977=) c.94329C>T (p.Ile31443=) c.94326C>T (p.Ile31442=) c.91368C>T (p.Ile30456=) c.72984C>T (p.Ile24328=) c.94479C>T (p.Ile31493=) c.94476C>T (p.Ile31492=) c.93909C>T (p.Ile31303=) c.91251C>T (p.Ile30417=) c.91170C>T (p.Ile30390=) c.72933C>T (p.Ile24311=) c.62787C>T (p.Ile20929=) | |
| 2 | g.178537071G>C | CA349426896 | TTN,TTN-AS1 | c.92334C>G (p.Ile30778Met) c.73419C>G (p.Ile24473Met) c.73218C>G (p.Ile24406Met) c.72843C>G (p.Ile24281Met) c.100038C>G (p.Ile33346Met) c.95115C>G (p.Ile31705Met) n.446+13435G>C n.317-290G>C c.99135C>G (p.Ile33045Met) c.73029C>G (p.Ile24343Met) c.72888C>G (p.Ile24296Met) c.98931C>G (p.Ile32977Met) c.94329C>G (p.Ile31443Met) c.94326C>G (p.Ile31442Met) c.91368C>G (p.Ile30456Met) c.72984C>G (p.Ile24328Met) c.94479C>G (p.Ile31493Met) c.94476C>G (p.Ile31492Met) c.93909C>G (p.Ile31303Met) c.91251C>G (p.Ile30417Met) c.91170C>G (p.Ile30390Met) c.72933C>G (p.Ile24311Met) c.62787C>G (p.Ile20929Met) | |
| 2 | g.178537071G>T | CA430238949 | TTN,TTN-AS1 | c.92334C>A (p.Ile30778=) c.73419C>A (p.Ile24473=) c.73218C>A (p.Ile24406=) c.72843C>A (p.Ile24281=) c.100038C>A (p.Ile33346=) c.95115C>A (p.Ile31705=) n.446+13435G>T n.317-290G>T c.99135C>A (p.Ile33045=) c.73029C>A (p.Ile24343=) c.72888C>A (p.Ile24296=) c.98931C>A (p.Ile32977=) c.94329C>A (p.Ile31443=) c.94326C>A (p.Ile31442=) c.91368C>A (p.Ile30456=) c.72984C>A (p.Ile24328=) c.94479C>A (p.Ile31493=) c.94476C>A (p.Ile31492=) c.93909C>A (p.Ile31303=) c.91251C>A (p.Ile30417=) c.91170C>A (p.Ile30390=) c.72933C>A (p.Ile24311=) c.62787C>A (p.Ile20929=) | |
| 2 | g.178537072A>C | CA349426897 | TTN,TTN-AS1 | c.92333T>G (p.Ile30778Ser) c.73418T>G (p.Ile24473Ser) c.73217T>G (p.Ile24406Ser) c.72842T>G (p.Ile24281Ser) c.100037T>G (p.Ile33346Ser) c.95114T>G (p.Ile31705Ser) n.446+13436A>C n.317-289A>C c.99134T>G (p.Ile33045Ser) c.73028T>G (p.Ile24343Ser) c.72887T>G (p.Ile24296Ser) c.98930T>G (p.Ile32977Ser) c.94328T>G (p.Ile31443Ser) c.94325T>G (p.Ile31442Ser) c.91367T>G (p.Ile30456Ser) c.72983T>G (p.Ile24328Ser) c.94478T>G (p.Ile31493Ser) c.94475T>G (p.Ile31492Ser) c.93908T>G (p.Ile31303Ser) c.91250T>G (p.Ile30417Ser) c.91169T>G (p.Ile30390Ser) c.72932T>G (p.Ile24311Ser) c.62786T>G (p.Ile20929Ser) | |
| 2 | g.178537072A>G | CA349426898 | TTN,TTN-AS1 | c.92333T>C (p.Ile30778Thr) c.73418T>C (p.Ile24473Thr) c.73217T>C (p.Ile24406Thr) c.72842T>C (p.Ile24281Thr) c.100037T>C (p.Ile33346Thr) c.95114T>C (p.Ile31705Thr) n.446+13436A>G n.317-289A>G c.99134T>C (p.Ile33045Thr) c.73028T>C (p.Ile24343Thr) c.72887T>C (p.Ile24296Thr) c.98930T>C (p.Ile32977Thr) c.94328T>C (p.Ile31443Thr) c.94325T>C (p.Ile31442Thr) c.91367T>C (p.Ile30456Thr) c.72983T>C (p.Ile24328Thr) c.94478T>C (p.Ile31493Thr) c.94475T>C (p.Ile31492Thr) c.93908T>C (p.Ile31303Thr) c.91250T>C (p.Ile30417Thr) c.91169T>C (p.Ile30390Thr) c.72932T>C (p.Ile24311Thr) c.62786T>C (p.Ile20929Thr) | |
| 2 | g.178537072A>T | CA349426899 | TTN,TTN-AS1 | c.92333T>A (p.Ile30778Asn) c.73418T>A (p.Ile24473Asn) c.73217T>A (p.Ile24406Asn) c.72842T>A (p.Ile24281Asn) c.100037T>A (p.Ile33346Asn) c.95114T>A (p.Ile31705Asn) n.446+13436A>T n.317-289A>T c.99134T>A (p.Ile33045Asn) c.73028T>A (p.Ile24343Asn) c.72887T>A (p.Ile24296Asn) c.98930T>A (p.Ile32977Asn) c.94328T>A (p.Ile31443Asn) c.94325T>A (p.Ile31442Asn) c.91367T>A (p.Ile30456Asn) c.72983T>A (p.Ile24328Asn) c.94478T>A (p.Ile31493Asn) c.94475T>A (p.Ile31492Asn) c.93908T>A (p.Ile31303Asn) c.91250T>A (p.Ile30417Asn) c.91169T>A (p.Ile30390Asn) c.72932T>A (p.Ile24311Asn) c.62786T>A (p.Ile20929Asn) | |
| 2 | g.178537073T>A | CA349426900 | TTN,TTN-AS1 | c.92332A>T (p.Ile30778Phe) c.73417A>T (p.Ile24473Phe) c.73216A>T (p.Ile24406Phe) c.72841A>T (p.Ile24281Phe) c.100036A>T (p.Ile33346Phe) c.95113A>T (p.Ile31705Phe) n.446+13437T>A n.317-288T>A c.99133A>T (p.Ile33045Phe) c.73027A>T (p.Ile24343Phe) c.72886A>T (p.Ile24296Phe) c.98929A>T (p.Ile32977Phe) c.94327A>T (p.Ile31443Phe) c.94324A>T (p.Ile31442Phe) c.91366A>T (p.Ile30456Phe) c.72982A>T (p.Ile24328Phe) c.94477A>T (p.Ile31493Phe) c.94474A>T (p.Ile31492Phe) c.93907A>T (p.Ile31303Phe) c.91249A>T (p.Ile30417Phe) c.91168A>T (p.Ile30390Phe) c.72931A>T (p.Ile24311Phe) c.62785A>T (p.Ile20929Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178537073T>C | CA349426901 | TTN,TTN-AS1 | c.92332A>G (p.Ile30778Val) c.73417A>G (p.Ile24473Val) c.73216A>G (p.Ile24406Val) c.72841A>G (p.Ile24281Val) c.100036A>G (p.Ile33346Val) c.95113A>G (p.Ile31705Val) n.446+13437T>C n.317-288T>C c.99133A>G (p.Ile33045Val) c.73027A>G (p.Ile24343Val) c.72886A>G (p.Ile24296Val) c.98929A>G (p.Ile32977Val) c.94327A>G (p.Ile31443Val) c.94324A>G (p.Ile31442Val) c.91366A>G (p.Ile30456Val) c.72982A>G (p.Ile24328Val) c.94477A>G (p.Ile31493Val) c.94474A>G (p.Ile31492Val) c.93907A>G (p.Ile31303Val) c.91249A>G (p.Ile30417Val) c.91168A>G (p.Ile30390Val) c.72931A>G (p.Ile24311Val) c.62785A>G (p.Ile20929Val) | |
| 2 | g.178537073T>G | CA349426902 | TTN,TTN-AS1 | c.92332A>C (p.Ile30778Leu) c.73417A>C (p.Ile24473Leu) c.73216A>C (p.Ile24406Leu) c.72841A>C (p.Ile24281Leu) c.100036A>C (p.Ile33346Leu) c.95113A>C (p.Ile31705Leu) n.446+13437T>G n.317-288T>G c.99133A>C (p.Ile33045Leu) c.73027A>C (p.Ile24343Leu) c.72886A>C (p.Ile24296Leu) c.98929A>C (p.Ile32977Leu) c.94327A>C (p.Ile31443Leu) c.94324A>C (p.Ile31442Leu) c.91366A>C (p.Ile30456Leu) c.72982A>C (p.Ile24328Leu) c.94477A>C (p.Ile31493Leu) c.94474A>C (p.Ile31492Leu) c.93907A>C (p.Ile31303Leu) c.91249A>C (p.Ile30417Leu) c.91168A>C (p.Ile30390Leu) c.72931A>C (p.Ile24311Leu) c.62785A>C (p.Ile20929Leu) | |
| 2 | g.178537073T= | CA1310515192 | TTN,TTN-AS1 | c.92332A= (p.Ile30778=) c.73417A= (p.Ile24473=) c.73216A= (p.Ile24406=) c.72841A= (p.Ile24281=) c.100036A= (p.Ile33346=) c.95113A= (p.Ile31705=) n.446+13437T= n.317-288T= c.99133A= (p.Ile33045=) c.73027A= (p.Ile24343=) c.72886A= (p.Ile24296=) c.98929A= (p.Ile32977=) c.94327A= (p.Ile31443=) c.94324A= (p.Ile31442=) c.91366A= (p.Ile30456=) c.72982A= (p.Ile24328=) c.94477A= (p.Ile31493=) c.94474A= (p.Ile31492=) c.93907A= (p.Ile31303=) c.91249A= (p.Ile30417=) c.91168A= (p.Ile30390=) c.72931A= (p.Ile24311=) c.62785A= (p.Ile20929=) | |
| 2 | g.178537074G>A | CA430238955 | TTN,TTN-AS1 | c.92331C>T (p.Ala30777=) c.73416C>T (p.Ala24472=) c.73215C>T (p.Ala24405=) c.72840C>T (p.Ala24280=) c.100035C>T (p.Ala33345=) c.95112C>T (p.Ala31704=) n.446+13438G>A n.317-287G>A c.99132C>T (p.Ala33044=) c.73026C>T (p.Ala24342=) c.72885C>T (p.Ala24295=) c.98928C>T (p.Ala32976=) c.94326C>T (p.Ala31442=) c.94323C>T (p.Ala31441=) c.91365C>T (p.Ala30455=) c.72981C>T (p.Ala24327=) c.94476C>T (p.Ala31492=) c.94473C>T (p.Ala31491=) c.93906C>T (p.Ala31302=) c.91248C>T (p.Ala30416=) c.91167C>T (p.Ala30389=) c.72930C>T (p.Ala24310=) c.62784C>T (p.Ala20928=) | |
| 2 | g.178537074G>C | CA430238956 | TTN,TTN-AS1 | c.92331C>G (p.Ala30777=) c.73416C>G (p.Ala24472=) c.73215C>G (p.Ala24405=) c.72840C>G (p.Ala24280=) c.100035C>G (p.Ala33345=) c.95112C>G (p.Ala31704=) n.446+13438G>C n.317-287G>C c.99132C>G (p.Ala33044=) c.73026C>G (p.Ala24342=) c.72885C>G (p.Ala24295=) c.98928C>G (p.Ala32976=) c.94326C>G (p.Ala31442=) c.94323C>G (p.Ala31441=) c.91365C>G (p.Ala30455=) c.72981C>G (p.Ala24327=) c.94476C>G (p.Ala31492=) c.94473C>G (p.Ala31491=) c.93906C>G (p.Ala31302=) c.91248C>G (p.Ala30416=) c.91167C>G (p.Ala30389=) c.72930C>G (p.Ala24310=) c.62784C>G (p.Ala20928=) | |
| 2 | g.178537074G>T | CA430238959 | TTN,TTN-AS1 | c.92331C>A (p.Ala30777=) c.73416C>A (p.Ala24472=) c.73215C>A (p.Ala24405=) c.72840C>A (p.Ala24280=) c.100035C>A (p.Ala33345=) c.95112C>A (p.Ala31704=) n.446+13438G>T n.317-287G>T c.99132C>A (p.Ala33044=) c.73026C>A (p.Ala24342=) c.72885C>A (p.Ala24295=) c.98928C>A (p.Ala32976=) c.94326C>A (p.Ala31442=) c.94323C>A (p.Ala31441=) c.91365C>A (p.Ala30455=) c.72981C>A (p.Ala24327=) c.94476C>A (p.Ala31492=) c.94473C>A (p.Ala31491=) c.93906C>A (p.Ala31302=) c.91248C>A (p.Ala30416=) c.91167C>A (p.Ala30389=) c.72930C>A (p.Ala24310=) c.62784C>A (p.Ala20928=) | gnomAD v4 |
| 2 | g.178537075G>A | CA349426904 | TTN,TTN-AS1 | c.92330C>T (p.Ala30777Val) c.73415C>T (p.Ala24472Val) c.73214C>T (p.Ala24405Val) c.72839C>T (p.Ala24280Val) c.100034C>T (p.Ala33345Val) c.95111C>T (p.Ala31704Val) n.446+13439G>A n.317-286G>A c.99131C>T (p.Ala33044Val) c.73025C>T (p.Ala24342Val) c.72884C>T (p.Ala24295Val) c.98927C>T (p.Ala32976Val) c.94325C>T (p.Ala31442Val) c.94322C>T (p.Ala31441Val) c.91364C>T (p.Ala30455Val) c.72980C>T (p.Ala24327Val) c.94475C>T (p.Ala31492Val) c.94472C>T (p.Ala31491Val) c.93905C>T (p.Ala31302Val) c.91247C>T (p.Ala30416Val) c.91166C>T (p.Ala30389Val) c.72929C>T (p.Ala24310Val) c.62783C>T (p.Ala20928Val) | dbSNP gnomAD v4 |
| 2 | g.178537075G>C | CA349426905 | TTN,TTN-AS1 | c.92330C>G (p.Ala30777Gly) c.73415C>G (p.Ala24472Gly) c.73214C>G (p.Ala24405Gly) c.72839C>G (p.Ala24280Gly) c.100034C>G (p.Ala33345Gly) c.95111C>G (p.Ala31704Gly) n.446+13439G>C n.317-286G>C c.99131C>G (p.Ala33044Gly) c.73025C>G (p.Ala24342Gly) c.72884C>G (p.Ala24295Gly) c.98927C>G (p.Ala32976Gly) c.94325C>G (p.Ala31442Gly) c.94322C>G (p.Ala31441Gly) c.91364C>G (p.Ala30455Gly) c.72980C>G (p.Ala24327Gly) c.94475C>G (p.Ala31492Gly) c.94472C>G (p.Ala31491Gly) c.93905C>G (p.Ala31302Gly) c.91247C>G (p.Ala30416Gly) c.91166C>G (p.Ala30389Gly) c.72929C>G (p.Ala24310Gly) c.62783C>G (p.Ala20928Gly) | |
| 2 | g.178537075G= | CA1310515194 | TTN,TTN-AS1 | c.92330C= (p.Ala30777=) c.73415C= (p.Ala24472=) c.73214C= (p.Ala24405=) c.72839C= (p.Ala24280=) c.100034C= (p.Ala33345=) c.95111C= (p.Ala31704=) n.446+13439G= n.317-286G= c.99131C= (p.Ala33044=) c.73025C= (p.Ala24342=) c.72884C= (p.Ala24295=) c.98927C= (p.Ala32976=) c.94325C= (p.Ala31442=) c.94322C= (p.Ala31441=) c.91364C= (p.Ala30455=) c.72980C= (p.Ala24327=) c.94475C= (p.Ala31492=) c.94472C= (p.Ala31491=) c.93905C= (p.Ala31302=) c.91247C= (p.Ala30416=) c.91166C= (p.Ala30389=) c.72929C= (p.Ala24310=) c.62783C= (p.Ala20928=) | |
| 2 | g.178537075G>T | CA349426903 | TTN,TTN-AS1 | c.92330C>A (p.Ala30777Asp) c.73415C>A (p.Ala24472Asp) c.73214C>A (p.Ala24405Asp) c.72839C>A (p.Ala24280Asp) c.100034C>A (p.Ala33345Asp) c.95111C>A (p.Ala31704Asp) n.446+13439G>T n.317-286G>T c.99131C>A (p.Ala33044Asp) c.73025C>A (p.Ala24342Asp) c.72884C>A (p.Ala24295Asp) c.98927C>A (p.Ala32976Asp) c.94325C>A (p.Ala31442Asp) c.94322C>A (p.Ala31441Asp) c.91364C>A (p.Ala30455Asp) c.72980C>A (p.Ala24327Asp) c.94475C>A (p.Ala31492Asp) c.94472C>A (p.Ala31491Asp) c.93905C>A (p.Ala31302Asp) c.91247C>A (p.Ala30416Asp) c.91166C>A (p.Ala30389Asp) c.72929C>A (p.Ala24310Asp) c.62783C>A (p.Ala20928Asp) | |
| 2 | g.178537076C>A | CA349426908 | TTN,TTN-AS1 | c.92329G>T (p.Ala30777Ser) c.73414G>T (p.Ala24472Ser) c.73213G>T (p.Ala24405Ser) c.72838G>T (p.Ala24280Ser) c.100033G>T (p.Ala33345Ser) c.95110G>T (p.Ala31704Ser) n.446+13440C>A n.317-285C>A c.99130G>T (p.Ala33044Ser) c.73024G>T (p.Ala24342Ser) c.72883G>T (p.Ala24295Ser) c.98926G>T (p.Ala32976Ser) c.94324G>T (p.Ala31442Ser) c.94321G>T (p.Ala31441Ser) c.91363G>T (p.Ala30455Ser) c.72979G>T (p.Ala24327Ser) c.94474G>T (p.Ala31492Ser) c.94471G>T (p.Ala31491Ser) c.93904G>T (p.Ala31302Ser) c.91246G>T (p.Ala30416Ser) c.91165G>T (p.Ala30389Ser) c.72928G>T (p.Ala24310Ser) c.62782G>T (p.Ala20928Ser) | |
| 2 | g.178537076C>G | CA349426906 | TTN,TTN-AS1 | c.92329G>C (p.Ala30777Pro) c.73414G>C (p.Ala24472Pro) c.73213G>C (p.Ala24405Pro) c.72838G>C (p.Ala24280Pro) c.100033G>C (p.Ala33345Pro) c.95110G>C (p.Ala31704Pro) n.446+13440C>G n.317-285C>G c.99130G>C (p.Ala33044Pro) c.73024G>C (p.Ala24342Pro) c.72883G>C (p.Ala24295Pro) c.98926G>C (p.Ala32976Pro) c.94324G>C (p.Ala31442Pro) c.94321G>C (p.Ala31441Pro) c.91363G>C (p.Ala30455Pro) c.72979G>C (p.Ala24327Pro) c.94474G>C (p.Ala31492Pro) c.94471G>C (p.Ala31491Pro) c.93904G>C (p.Ala31302Pro) c.91246G>C (p.Ala30416Pro) c.91165G>C (p.Ala30389Pro) c.72928G>C (p.Ala24310Pro) c.62782G>C (p.Ala20928Pro) | |
| 2 | g.178537076C>T | CA349426907 | TTN,TTN-AS1 | c.92329G>A (p.Ala30777Thr) c.73414G>A (p.Ala24472Thr) c.73213G>A (p.Ala24405Thr) c.72838G>A (p.Ala24280Thr) c.100033G>A (p.Ala33345Thr) c.95110G>A (p.Ala31704Thr) n.446+13440C>T n.317-285C>T c.99130G>A (p.Ala33044Thr) c.73024G>A (p.Ala24342Thr) c.72883G>A (p.Ala24295Thr) c.98926G>A (p.Ala32976Thr) c.94324G>A (p.Ala31442Thr) c.94321G>A (p.Ala31441Thr) c.91363G>A (p.Ala30455Thr) c.72979G>A (p.Ala24327Thr) c.94474G>A (p.Ala31492Thr) c.94471G>A (p.Ala31491Thr) c.93904G>A (p.Ala31302Thr) c.91246G>A (p.Ala30416Thr) c.91165G>A (p.Ala30389Thr) c.72928G>A (p.Ala24310Thr) c.62782G>A (p.Ala20928Thr) | |
| 2 | g.178537077T>A | CA430238966 | TTN,TTN-AS1 | c.92328A>T (p.Ser30776=) c.73413A>T (p.Ser24471=) c.73212A>T (p.Ser24404=) c.72837A>T (p.Ser24279=) c.100032A>T (p.Ser33344=) c.95109A>T (p.Ser31703=) n.446+13441T>A n.317-284T>A c.99129A>T (p.Ser33043=) c.73023A>T (p.Ser24341=) c.72882A>T (p.Ser24294=) c.98925A>T (p.Ser32975=) c.94323A>T (p.Ser31441=) c.94320A>T (p.Ser31440=) c.91362A>T (p.Ser30454=) c.72978A>T (p.Ser24326=) c.94473A>T (p.Ser31491=) c.94470A>T (p.Ser31490=) c.93903A>T (p.Ser31301=) c.91245A>T (p.Ser30415=) c.91164A>T (p.Ser30388=) c.72927A>T (p.Ser24309=) c.62781A>T (p.Ser20927=) | |
| 2 | g.178537077T>C | CA430238967 | TTN,TTN-AS1 | c.92328A>G (p.Ser30776=) c.73413A>G (p.Ser24471=) c.73212A>G (p.Ser24404=) c.72837A>G (p.Ser24279=) c.100032A>G (p.Ser33344=) c.95109A>G (p.Ser31703=) n.446+13441T>C n.317-284T>C c.99129A>G (p.Ser33043=) c.73023A>G (p.Ser24341=) c.72882A>G (p.Ser24294=) c.98925A>G (p.Ser32975=) c.94323A>G (p.Ser31441=) c.94320A>G (p.Ser31440=) c.91362A>G (p.Ser30454=) c.72978A>G (p.Ser24326=) c.94473A>G (p.Ser31491=) c.94470A>G (p.Ser31490=) c.93903A>G (p.Ser31301=) c.91245A>G (p.Ser30415=) c.91164A>G (p.Ser30388=) c.72927A>G (p.Ser24309=) c.62781A>G (p.Ser20927=) |