| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178554091_178554095del | CA2662128713 | TTN,TTN-AS1 | c.81314_81318del (p.Arg27105GlnfsTer8) c.62399_62403del (p.Arg20800GlnfsTer8) c.62198_62202del (p.Arg20733GlnfsTer8) c.61823_61827del (p.Arg20608GlnfsTer8) c.89018_89022del (p.Arg29673GlnfsTer8) c.84095_84099del (p.Arg28032GlnfsTer8) n.447-17209_447-17205del n.2043+11730_2043+11734del c.88115_88119del (p.Arg29372GlnfsTer8) c.62009_62013del (p.Arg20670GlnfsTer8) c.61868_61872del (p.Arg20623GlnfsTer8) c.87911_87915del (p.Arg29304GlnfsTer8) c.83309_83313del (p.Arg27770GlnfsTer8) c.83306_83310del (p.Arg27769GlnfsTer8) c.80348_80352del (p.Arg26783GlnfsTer8) c.61964_61968del (p.Arg20655GlnfsTer8) c.83459_83463del (p.Arg27820GlnfsTer8) c.83456_83460del (p.Arg27819GlnfsTer8) c.82889_82893del (p.Arg27630GlnfsTer8) c.80231_80235del (p.Arg26744GlnfsTer8) c.80150_80154del (p.Arg26717GlnfsTer8) c.61913_61917del (p.Arg20638GlnfsTer8) c.51767_51771del (p.Arg17256GlnfsTer8) | gnomAD v4 |
| 2 | g.178554094G>A | CA10587456 | TTN,TTN-AS1 | c.81313C>T (p.Arg27105Ter) c.62398C>T (p.Arg20800Ter) c.62197C>T (p.Arg20733Ter) c.61822C>T (p.Arg20608Ter) c.89017C>T (p.Arg29673Ter) c.84094C>T (p.Arg28032Ter) n.447-17206G>A n.2043+11733G>A c.88114C>T (p.Arg29372Ter) c.62008C>T (p.Arg20670Ter) c.61867C>T (p.Arg20623Ter) c.87910C>T (p.Arg29304Ter) c.83308C>T (p.Arg27770Ter) c.83305C>T (p.Arg27769Ter) c.80347C>T (p.Arg26783Ter) c.61963C>T (p.Arg20655Ter) c.83458C>T (p.Arg27820Ter) c.83455C>T (p.Arg27819Ter) c.82888C>T (p.Arg27630Ter) c.80230C>T (p.Arg26744Ter) c.80149C>T (p.Arg26717Ter) c.61912C>T (p.Arg20638Ter) c.51766C>T (p.Arg17256Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178554094G>C | CA349521593 | TTN,TTN-AS1 | c.81313C>G (p.Arg27105Gly) c.62398C>G (p.Arg20800Gly) c.62197C>G (p.Arg20733Gly) c.61822C>G (p.Arg20608Gly) c.89017C>G (p.Arg29673Gly) c.84094C>G (p.Arg28032Gly) n.447-17206G>C n.2043+11733G>C c.88114C>G (p.Arg29372Gly) c.62008C>G (p.Arg20670Gly) c.61867C>G (p.Arg20623Gly) c.87910C>G (p.Arg29304Gly) c.83308C>G (p.Arg27770Gly) c.83305C>G (p.Arg27769Gly) c.80347C>G (p.Arg26783Gly) c.61963C>G (p.Arg20655Gly) c.83458C>G (p.Arg27820Gly) c.83455C>G (p.Arg27819Gly) c.82888C>G (p.Arg27630Gly) c.80230C>G (p.Arg26744Gly) c.80149C>G (p.Arg26717Gly) c.61912C>G (p.Arg20638Gly) c.51766C>G (p.Arg17256Gly) | |
| 2 | g.178554094G= | CA1310523359 | TTN,TTN-AS1 | c.81313C= (p.Arg27105=) c.62398C= (p.Arg20800=) c.62197C= (p.Arg20733=) c.61822C= (p.Arg20608=) c.89017C= (p.Arg29673=) c.84094C= (p.Arg28032=) n.447-17206G= n.2043+11733G= c.88114C= (p.Arg29372=) c.62008C= (p.Arg20670=) c.61867C= (p.Arg20623=) c.87910C= (p.Arg29304=) c.83308C= (p.Arg27770=) c.83305C= (p.Arg27769=) c.80347C= (p.Arg26783=) c.61963C= (p.Arg20655=) c.83458C= (p.Arg27820=) c.83455C= (p.Arg27819=) c.82888C= (p.Arg27630=) c.80230C= (p.Arg26744=) c.80149C= (p.Arg26717=) c.61912C= (p.Arg20638=) c.51766C= (p.Arg17256=) | |
| 2 | g.178554094G>T | CA430246290 | TTN,TTN-AS1 | c.81313C>A (p.Arg27105=) c.62398C>A (p.Arg20800=) c.62197C>A (p.Arg20733=) c.61822C>A (p.Arg20608=) c.89017C>A (p.Arg29673=) c.84094C>A (p.Arg28032=) n.447-17206G>T n.2043+11733G>T c.88114C>A (p.Arg29372=) c.62008C>A (p.Arg20670=) c.61867C>A (p.Arg20623=) c.87910C>A (p.Arg29304=) c.83308C>A (p.Arg27770=) c.83305C>A (p.Arg27769=) c.80347C>A (p.Arg26783=) c.61963C>A (p.Arg20655=) c.83458C>A (p.Arg27820=) c.83455C>A (p.Arg27819=) c.82888C>A (p.Arg27630=) c.80230C>A (p.Arg26744=) c.80149C>A (p.Arg26717=) c.61912C>A (p.Arg20638=) c.51766C>A (p.Arg17256=) | |
| 2 | g.178554095T>A | CA349521596 | TTN,TTN-AS1 | c.81312A>T (p.Lys27104Asn) c.62397A>T (p.Lys20799Asn) c.62196A>T (p.Lys20732Asn) c.61821A>T (p.Lys20607Asn) c.89016A>T (p.Lys29672Asn) c.84093A>T (p.Lys28031Asn) n.447-17205T>A n.2043+11734T>A c.88113A>T (p.Lys29371Asn) c.62007A>T (p.Lys20669Asn) c.61866A>T (p.Lys20622Asn) c.87909A>T (p.Lys29303Asn) c.83307A>T (p.Lys27769Asn) c.83304A>T (p.Lys27768Asn) c.80346A>T (p.Lys26782Asn) c.61962A>T (p.Lys20654Asn) c.83457A>T (p.Lys27819Asn) c.83454A>T (p.Lys27818Asn) c.82887A>T (p.Lys27629Asn) c.80229A>T (p.Lys26743Asn) c.80148A>T (p.Lys26716Asn) c.61911A>T (p.Lys20637Asn) c.51765A>T (p.Lys17255Asn) | |
| 2 | g.178554095T>C | CA430246292 | TTN,TTN-AS1 | c.81312A>G (p.Lys27104=) c.62397A>G (p.Lys20799=) c.62196A>G (p.Lys20732=) c.61821A>G (p.Lys20607=) c.89016A>G (p.Lys29672=) c.84093A>G (p.Lys28031=) n.447-17205T>C n.2043+11734T>C c.88113A>G (p.Lys29371=) c.62007A>G (p.Lys20669=) c.61866A>G (p.Lys20622=) c.87909A>G (p.Lys29303=) c.83307A>G (p.Lys27769=) c.83304A>G (p.Lys27768=) c.80346A>G (p.Lys26782=) c.61962A>G (p.Lys20654=) c.83457A>G (p.Lys27819=) c.83454A>G (p.Lys27818=) c.82887A>G (p.Lys27629=) c.80229A>G (p.Lys26743=) c.80148A>G (p.Lys26716=) c.61911A>G (p.Lys20637=) c.51765A>G (p.Lys17255=) | |
| 2 | g.178554095T>G | CA349521601 | TTN,TTN-AS1 | c.81312A>C (p.Lys27104Asn) c.62397A>C (p.Lys20799Asn) c.62196A>C (p.Lys20732Asn) c.61821A>C (p.Lys20607Asn) c.89016A>C (p.Lys29672Asn) c.84093A>C (p.Lys28031Asn) n.447-17205T>G n.2043+11734T>G c.88113A>C (p.Lys29371Asn) c.62007A>C (p.Lys20669Asn) c.61866A>C (p.Lys20622Asn) c.87909A>C (p.Lys29303Asn) c.83307A>C (p.Lys27769Asn) c.83304A>C (p.Lys27768Asn) c.80346A>C (p.Lys26782Asn) c.61962A>C (p.Lys20654Asn) c.83457A>C (p.Lys27819Asn) c.83454A>C (p.Lys27818Asn) c.82887A>C (p.Lys27629Asn) c.80229A>C (p.Lys26743Asn) c.80148A>C (p.Lys26716Asn) c.61911A>C (p.Lys20637Asn) c.51765A>C (p.Lys17255Asn) | gnomAD v4 |
| 2 | g.178554096T>A | CA349521604 | TTN,TTN-AS1 | c.81311A>T (p.Lys27104Ile) c.62396A>T (p.Lys20799Ile) c.62195A>T (p.Lys20732Ile) c.61820A>T (p.Lys20607Ile) c.89015A>T (p.Lys29672Ile) c.84092A>T (p.Lys28031Ile) n.447-17204T>A n.2043+11735T>A c.88112A>T (p.Lys29371Ile) c.62006A>T (p.Lys20669Ile) c.61865A>T (p.Lys20622Ile) c.87908A>T (p.Lys29303Ile) c.83306A>T (p.Lys27769Ile) c.83303A>T (p.Lys27768Ile) c.80345A>T (p.Lys26782Ile) c.61961A>T (p.Lys20654Ile) c.83456A>T (p.Lys27819Ile) c.83453A>T (p.Lys27818Ile) c.82886A>T (p.Lys27629Ile) c.80228A>T (p.Lys26743Ile) c.80147A>T (p.Lys26716Ile) c.61910A>T (p.Lys20637Ile) c.51764A>T (p.Lys17255Ile) | |
| 2 | g.178554096T>C | CA349521608 | TTN,TTN-AS1 | c.81311A>G (p.Lys27104Arg) c.62396A>G (p.Lys20799Arg) c.62195A>G (p.Lys20732Arg) c.61820A>G (p.Lys20607Arg) c.89015A>G (p.Lys29672Arg) c.84092A>G (p.Lys28031Arg) n.447-17204T>C n.2043+11735T>C c.88112A>G (p.Lys29371Arg) c.62006A>G (p.Lys20669Arg) c.61865A>G (p.Lys20622Arg) c.87908A>G (p.Lys29303Arg) c.83306A>G (p.Lys27769Arg) c.83303A>G (p.Lys27768Arg) c.80345A>G (p.Lys26782Arg) c.61961A>G (p.Lys20654Arg) c.83456A>G (p.Lys27819Arg) c.83453A>G (p.Lys27818Arg) c.82886A>G (p.Lys27629Arg) c.80228A>G (p.Lys26743Arg) c.80147A>G (p.Lys26716Arg) c.61910A>G (p.Lys20637Arg) c.51764A>G (p.Lys17255Arg) | |
| 2 | g.178554096T>G | CA349521607 | TTN,TTN-AS1 | c.81311A>C (p.Lys27104Thr) c.62396A>C (p.Lys20799Thr) c.62195A>C (p.Lys20732Thr) c.61820A>C (p.Lys20607Thr) c.89015A>C (p.Lys29672Thr) c.84092A>C (p.Lys28031Thr) n.447-17204T>G n.2043+11735T>G c.88112A>C (p.Lys29371Thr) c.62006A>C (p.Lys20669Thr) c.61865A>C (p.Lys20622Thr) c.87908A>C (p.Lys29303Thr) c.83306A>C (p.Lys27769Thr) c.83303A>C (p.Lys27768Thr) c.80345A>C (p.Lys26782Thr) c.61961A>C (p.Lys20654Thr) c.83456A>C (p.Lys27819Thr) c.83453A>C (p.Lys27818Thr) c.82886A>C (p.Lys27629Thr) c.80228A>C (p.Lys26743Thr) c.80147A>C (p.Lys26716Thr) c.61910A>C (p.Lys20637Thr) c.51764A>C (p.Lys17255Thr) | |
| 2 | g.178554097T>A | CA349521610 | TTN,TTN-AS1 | c.81310A>T (p.Lys27104Ter) c.62395A>T (p.Lys20799Ter) c.62194A>T (p.Lys20732Ter) c.61819A>T (p.Lys20607Ter) c.89014A>T (p.Lys29672Ter) c.84091A>T (p.Lys28031Ter) n.447-17203T>A n.2043+11736T>A c.88111A>T (p.Lys29371Ter) c.62005A>T (p.Lys20669Ter) c.61864A>T (p.Lys20622Ter) c.87907A>T (p.Lys29303Ter) c.83305A>T (p.Lys27769Ter) c.83302A>T (p.Lys27768Ter) c.80344A>T (p.Lys26782Ter) c.61960A>T (p.Lys20654Ter) c.83455A>T (p.Lys27819Ter) c.83452A>T (p.Lys27818Ter) c.82885A>T (p.Lys27629Ter) c.80227A>T (p.Lys26743Ter) c.80146A>T (p.Lys26716Ter) c.61909A>T (p.Lys20637Ter) c.51763A>T (p.Lys17255Ter) | |
| 2 | g.178554097T>C | CA349521611 | TTN,TTN-AS1 | c.81310A>G (p.Lys27104Glu) c.62395A>G (p.Lys20799Glu) c.62194A>G (p.Lys20732Glu) c.61819A>G (p.Lys20607Glu) c.89014A>G (p.Lys29672Glu) c.84091A>G (p.Lys28031Glu) n.447-17203T>C n.2043+11736T>C c.88111A>G (p.Lys29371Glu) c.62005A>G (p.Lys20669Glu) c.61864A>G (p.Lys20622Glu) c.87907A>G (p.Lys29303Glu) c.83305A>G (p.Lys27769Glu) c.83302A>G (p.Lys27768Glu) c.80344A>G (p.Lys26782Glu) c.61960A>G (p.Lys20654Glu) c.83455A>G (p.Lys27819Glu) c.83452A>G (p.Lys27818Glu) c.82885A>G (p.Lys27629Glu) c.80227A>G (p.Lys26743Glu) c.80146A>G (p.Lys26716Glu) c.61909A>G (p.Lys20637Glu) c.51763A>G (p.Lys17255Glu) | |
| 2 | g.178554097T>G | CA349521613 | TTN,TTN-AS1 | c.81310A>C (p.Lys27104Gln) c.62395A>C (p.Lys20799Gln) c.62194A>C (p.Lys20732Gln) c.61819A>C (p.Lys20607Gln) c.89014A>C (p.Lys29672Gln) c.84091A>C (p.Lys28031Gln) n.447-17203T>G n.2043+11736T>G c.88111A>C (p.Lys29371Gln) c.62005A>C (p.Lys20669Gln) c.61864A>C (p.Lys20622Gln) c.87907A>C (p.Lys29303Gln) c.83305A>C (p.Lys27769Gln) c.83302A>C (p.Lys27768Gln) c.80344A>C (p.Lys26782Gln) c.61960A>C (p.Lys20654Gln) c.83455A>C (p.Lys27819Gln) c.83452A>C (p.Lys27818Gln) c.82885A>C (p.Lys27629Gln) c.80227A>C (p.Lys26743Gln) c.80146A>C (p.Lys26716Gln) c.61909A>C (p.Lys20637Gln) c.51763A>C (p.Lys17255Gln) | |
| 2 | g.178554098T>A | CA349521614 | TTN,TTN-AS1 | c.81309A>T (p.Glu27103Asp) c.62394A>T (p.Glu20798Asp) c.62193A>T (p.Glu20731Asp) c.61818A>T (p.Glu20606Asp) c.89013A>T (p.Glu29671Asp) c.84090A>T (p.Glu28030Asp) n.447-17202T>A n.2043+11737T>A c.88110A>T (p.Glu29370Asp) c.62004A>T (p.Glu20668Asp) c.61863A>T (p.Glu20621Asp) c.87906A>T (p.Glu29302Asp) c.83304A>T (p.Glu27768Asp) c.83301A>T (p.Glu27767Asp) c.80343A>T (p.Glu26781Asp) c.61959A>T (p.Glu20653Asp) c.83454A>T (p.Glu27818Asp) c.83451A>T (p.Glu27817Asp) c.82884A>T (p.Glu27628Asp) c.80226A>T (p.Glu26742Asp) c.80145A>T (p.Glu26715Asp) c.61908A>T (p.Glu20636Asp) c.51762A>T (p.Glu17254Asp) | |
| 2 | g.178554098T>C | CA430246296 | TTN,TTN-AS1 | c.81309A>G (p.Glu27103=) c.62394A>G (p.Glu20798=) c.62193A>G (p.Glu20731=) c.61818A>G (p.Glu20606=) c.89013A>G (p.Glu29671=) c.84090A>G (p.Glu28030=) n.447-17202T>C n.2043+11737T>C c.88110A>G (p.Glu29370=) c.62004A>G (p.Glu20668=) c.61863A>G (p.Glu20621=) c.87906A>G (p.Glu29302=) c.83304A>G (p.Glu27768=) c.83301A>G (p.Glu27767=) c.80343A>G (p.Glu26781=) c.61959A>G (p.Glu20653=) c.83454A>G (p.Glu27818=) c.83451A>G (p.Glu27817=) c.82884A>G (p.Glu27628=) c.80226A>G (p.Glu26742=) c.80145A>G (p.Glu26715=) c.61908A>G (p.Glu20636=) c.51762A>G (p.Glu17254=) | |
| 2 | g.178554098T>G | CA349521617 | TTN,TTN-AS1 | c.81309A>C (p.Glu27103Asp) c.62394A>C (p.Glu20798Asp) c.62193A>C (p.Glu20731Asp) c.61818A>C (p.Glu20606Asp) c.89013A>C (p.Glu29671Asp) c.84090A>C (p.Glu28030Asp) n.447-17202T>G n.2043+11737T>G c.88110A>C (p.Glu29370Asp) c.62004A>C (p.Glu20668Asp) c.61863A>C (p.Glu20621Asp) c.87906A>C (p.Glu29302Asp) c.83304A>C (p.Glu27768Asp) c.83301A>C (p.Glu27767Asp) c.80343A>C (p.Glu26781Asp) c.61959A>C (p.Glu20653Asp) c.83454A>C (p.Glu27818Asp) c.83451A>C (p.Glu27817Asp) c.82884A>C (p.Glu27628Asp) c.80226A>C (p.Glu26742Asp) c.80145A>C (p.Glu26715Asp) c.61908A>C (p.Glu20636Asp) c.51762A>C (p.Glu17254Asp) | |
| 2 | g.178554099T>A | CA349521620 | TTN,TTN-AS1 | c.81308A>T (p.Glu27103Val) c.62393A>T (p.Glu20798Val) c.62192A>T (p.Glu20731Val) c.61817A>T (p.Glu20606Val) c.89012A>T (p.Glu29671Val) c.84089A>T (p.Glu28030Val) n.447-17201T>A n.2043+11738T>A c.88109A>T (p.Glu29370Val) c.62003A>T (p.Glu20668Val) c.61862A>T (p.Glu20621Val) c.87905A>T (p.Glu29302Val) c.83303A>T (p.Glu27768Val) c.83300A>T (p.Glu27767Val) c.80342A>T (p.Glu26781Val) c.61958A>T (p.Glu20653Val) c.83453A>T (p.Glu27818Val) c.83450A>T (p.Glu27817Val) c.82883A>T (p.Glu27628Val) c.80225A>T (p.Glu26742Val) c.80144A>T (p.Glu26715Val) c.61907A>T (p.Glu20636Val) c.51761A>T (p.Glu17254Val) | |
| 2 | g.178554099T>C | CA349521623 | TTN,TTN-AS1 | c.81308A>G (p.Glu27103Gly) c.62393A>G (p.Glu20798Gly) c.62192A>G (p.Glu20731Gly) c.61817A>G (p.Glu20606Gly) c.89012A>G (p.Glu29671Gly) c.84089A>G (p.Glu28030Gly) n.447-17201T>C n.2043+11738T>C c.88109A>G (p.Glu29370Gly) c.62003A>G (p.Glu20668Gly) c.61862A>G (p.Glu20621Gly) c.87905A>G (p.Glu29302Gly) c.83303A>G (p.Glu27768Gly) c.83300A>G (p.Glu27767Gly) c.80342A>G (p.Glu26781Gly) c.61958A>G (p.Glu20653Gly) c.83453A>G (p.Glu27818Gly) c.83450A>G (p.Glu27817Gly) c.82883A>G (p.Glu27628Gly) c.80225A>G (p.Glu26742Gly) c.80144A>G (p.Glu26715Gly) c.61907A>G (p.Glu20636Gly) c.51761A>G (p.Glu17254Gly) | |
| 2 | g.178554099T>G | CA349521626 | TTN,TTN-AS1 | c.81308A>C (p.Glu27103Ala) c.62393A>C (p.Glu20798Ala) c.62192A>C (p.Glu20731Ala) c.61817A>C (p.Glu20606Ala) c.89012A>C (p.Glu29671Ala) c.84089A>C (p.Glu28030Ala) n.447-17201T>G n.2043+11738T>G c.88109A>C (p.Glu29370Ala) c.62003A>C (p.Glu20668Ala) c.61862A>C (p.Glu20621Ala) c.87905A>C (p.Glu29302Ala) c.83303A>C (p.Glu27768Ala) c.83300A>C (p.Glu27767Ala) c.80342A>C (p.Glu26781Ala) c.61958A>C (p.Glu20653Ala) c.83453A>C (p.Glu27818Ala) c.83450A>C (p.Glu27817Ala) c.82883A>C (p.Glu27628Ala) c.80225A>C (p.Glu26742Ala) c.80144A>C (p.Glu26715Ala) c.61907A>C (p.Glu20636Ala) c.51761A>C (p.Glu17254Ala) | |
| 2 | g.178554100C>A | CA349521628 | TTN,TTN-AS1 | c.81307G>T (p.Glu27103Ter) c.62392G>T (p.Glu20798Ter) c.62191G>T (p.Glu20731Ter) c.61816G>T (p.Glu20606Ter) c.89011G>T (p.Glu29671Ter) c.84088G>T (p.Glu28030Ter) n.447-17200C>A n.2043+11739C>A c.88108G>T (p.Glu29370Ter) c.62002G>T (p.Glu20668Ter) c.61861G>T (p.Glu20621Ter) c.87904G>T (p.Glu29302Ter) c.83302G>T (p.Glu27768Ter) c.83299G>T (p.Glu27767Ter) c.80341G>T (p.Glu26781Ter) c.61957G>T (p.Glu20653Ter) c.83452G>T (p.Glu27818Ter) c.83449G>T (p.Glu27817Ter) c.82882G>T (p.Glu27628Ter) c.80224G>T (p.Glu26742Ter) c.80143G>T (p.Glu26715Ter) c.61906G>T (p.Glu20636Ter) c.51760G>T (p.Glu17254Ter) | |
| 2 | g.178554100C>G | CA349521629 | TTN,TTN-AS1 | c.81307G>C (p.Glu27103Gln) c.62392G>C (p.Glu20798Gln) c.62191G>C (p.Glu20731Gln) c.61816G>C (p.Glu20606Gln) c.89011G>C (p.Glu29671Gln) c.84088G>C (p.Glu28030Gln) n.447-17200C>G n.2043+11739C>G c.88108G>C (p.Glu29370Gln) c.62002G>C (p.Glu20668Gln) c.61861G>C (p.Glu20621Gln) c.87904G>C (p.Glu29302Gln) c.83302G>C (p.Glu27768Gln) c.83299G>C (p.Glu27767Gln) c.80341G>C (p.Glu26781Gln) c.61957G>C (p.Glu20653Gln) c.83452G>C (p.Glu27818Gln) c.83449G>C (p.Glu27817Gln) c.82882G>C (p.Glu27628Gln) c.80224G>C (p.Glu26742Gln) c.80143G>C (p.Glu26715Gln) c.61906G>C (p.Glu20636Gln) c.51760G>C (p.Glu17254Gln) | gnomAD v4 |
| 2 | g.178554100C>T | CA349521632 | TTN,TTN-AS1 | c.81307G>A (p.Glu27103Lys) c.62392G>A (p.Glu20798Lys) c.62191G>A (p.Glu20731Lys) c.61816G>A (p.Glu20606Lys) c.89011G>A (p.Glu29671Lys) c.84088G>A (p.Glu28030Lys) n.447-17200C>T n.2043+11739C>T c.88108G>A (p.Glu29370Lys) c.62002G>A (p.Glu20668Lys) c.61861G>A (p.Glu20621Lys) c.87904G>A (p.Glu29302Lys) c.83302G>A (p.Glu27768Lys) c.83299G>A (p.Glu27767Lys) c.80341G>A (p.Glu26781Lys) c.61957G>A (p.Glu20653Lys) c.83452G>A (p.Glu27818Lys) c.83449G>A (p.Glu27817Lys) c.82882G>A (p.Glu27628Lys) c.80224G>A (p.Glu26742Lys) c.80143G>A (p.Glu26715Lys) c.61906G>A (p.Glu20636Lys) c.51760G>A (p.Glu17254Lys) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178554101A>C | CA430246297 | TTN,TTN-AS1 | c.81306T>G (p.Leu27102=) c.62391T>G (p.Leu20797=) c.62190T>G (p.Leu20730=) c.61815T>G (p.Leu20605=) c.89010T>G (p.Leu29670=) c.84087T>G (p.Leu28029=) n.447-17199A>C n.2043+11740A>C c.88107T>G (p.Leu29369=) c.62001T>G (p.Leu20667=) c.61860T>G (p.Leu20620=) c.87903T>G (p.Leu29301=) c.83301T>G (p.Leu27767=) c.83298T>G (p.Leu27766=) c.80340T>G (p.Leu26780=) c.61956T>G (p.Leu20652=) c.83451T>G (p.Leu27817=) c.83448T>G (p.Leu27816=) c.82881T>G (p.Leu27627=) c.80223T>G (p.Leu26741=) c.80142T>G (p.Leu26714=) c.61905T>G (p.Leu20635=) c.51759T>G (p.Leu17253=) | |
| 2 | g.178554101A>G | CA430246298 | TTN,TTN-AS1 | c.81306T>C (p.Leu27102=) c.62391T>C (p.Leu20797=) c.62190T>C (p.Leu20730=) c.61815T>C (p.Leu20605=) c.89010T>C (p.Leu29670=) c.84087T>C (p.Leu28029=) n.447-17199A>G n.2043+11740A>G c.88107T>C (p.Leu29369=) c.62001T>C (p.Leu20667=) c.61860T>C (p.Leu20620=) c.87903T>C (p.Leu29301=) c.83301T>C (p.Leu27767=) c.83298T>C (p.Leu27766=) c.80340T>C (p.Leu26780=) c.61956T>C (p.Leu20652=) c.83451T>C (p.Leu27817=) c.83448T>C (p.Leu27816=) c.82881T>C (p.Leu27627=) c.80223T>C (p.Leu26741=) c.80142T>C (p.Leu26714=) c.61905T>C (p.Leu20635=) c.51759T>C (p.Leu17253=) | |
| 2 | g.178554101A>T | CA430246300 | TTN,TTN-AS1 | c.81306T>A (p.Leu27102=) c.62391T>A (p.Leu20797=) c.62190T>A (p.Leu20730=) c.61815T>A (p.Leu20605=) c.89010T>A (p.Leu29670=) c.84087T>A (p.Leu28029=) n.447-17199A>T n.2043+11740A>T c.88107T>A (p.Leu29369=) c.62001T>A (p.Leu20667=) c.61860T>A (p.Leu20620=) c.87903T>A (p.Leu29301=) c.83301T>A (p.Leu27767=) c.83298T>A (p.Leu27766=) c.80340T>A (p.Leu26780=) c.61956T>A (p.Leu20652=) c.83451T>A (p.Leu27817=) c.83448T>A (p.Leu27816=) c.82881T>A (p.Leu27627=) c.80223T>A (p.Leu26741=) c.80142T>A (p.Leu26714=) c.61905T>A (p.Leu20635=) c.51759T>A (p.Leu17253=) | |
| 2 | g.178554102A= | CA1310523362 | TTN,TTN-AS1 | c.81305T= (p.Leu27102=) c.62390T= (p.Leu20797=) c.62189T= (p.Leu20730=) c.61814T= (p.Leu20605=) c.89009T= (p.Leu29670=) c.84086T= (p.Leu28029=) n.447-17198A= n.2043+11741A= c.88106T= (p.Leu29369=) c.62000T= (p.Leu20667=) c.61859T= (p.Leu20620=) c.87902T= (p.Leu29301=) c.83300T= (p.Leu27767=) c.83297T= (p.Leu27766=) c.80339T= (p.Leu26780=) c.61955T= (p.Leu20652=) c.83450T= (p.Leu27817=) c.83447T= (p.Leu27816=) c.82880T= (p.Leu27627=) c.80222T= (p.Leu26741=) c.80141T= (p.Leu26714=) c.61904T= (p.Leu20635=) c.51758T= (p.Leu17253=) | |
| 2 | g.178554102A>C | CA349521636 | TTN,TTN-AS1 | c.81305T>G (p.Leu27102Arg) c.62390T>G (p.Leu20797Arg) c.62189T>G (p.Leu20730Arg) c.61814T>G (p.Leu20605Arg) c.89009T>G (p.Leu29670Arg) c.84086T>G (p.Leu28029Arg) n.447-17198A>C n.2043+11741A>C c.88106T>G (p.Leu29369Arg) c.62000T>G (p.Leu20667Arg) c.61859T>G (p.Leu20620Arg) c.87902T>G (p.Leu29301Arg) c.83300T>G (p.Leu27767Arg) c.83297T>G (p.Leu27766Arg) c.80339T>G (p.Leu26780Arg) c.61955T>G (p.Leu20652Arg) c.83450T>G (p.Leu27817Arg) c.83447T>G (p.Leu27816Arg) c.82880T>G (p.Leu27627Arg) c.80222T>G (p.Leu26741Arg) c.80141T>G (p.Leu26714Arg) c.61904T>G (p.Leu20635Arg) c.51758T>G (p.Leu17253Arg) | |
| 2 | g.178554102A>G | CA60978706 | TTN,TTN-AS1 | c.81305T>C (p.Leu27102Pro) c.62390T>C (p.Leu20797Pro) c.62189T>C (p.Leu20730Pro) c.61814T>C (p.Leu20605Pro) c.89009T>C (p.Leu29670Pro) c.84086T>C (p.Leu28029Pro) n.447-17198A>G n.2043+11741A>G c.88106T>C (p.Leu29369Pro) c.62000T>C (p.Leu20667Pro) c.61859T>C (p.Leu20620Pro) c.87902T>C (p.Leu29301Pro) c.83300T>C (p.Leu27767Pro) c.83297T>C (p.Leu27766Pro) c.80339T>C (p.Leu26780Pro) c.61955T>C (p.Leu20652Pro) c.83450T>C (p.Leu27817Pro) c.83447T>C (p.Leu27816Pro) c.82880T>C (p.Leu27627Pro) c.80222T>C (p.Leu26741Pro) c.80141T>C (p.Leu26714Pro) c.61904T>C (p.Leu20635Pro) c.51758T>C (p.Leu17253Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178554102A>T | CA349521639 | TTN,TTN-AS1 | c.81305T>A (p.Leu27102His) c.62390T>A (p.Leu20797His) c.62189T>A (p.Leu20730His) c.61814T>A (p.Leu20605His) c.89009T>A (p.Leu29670His) c.84086T>A (p.Leu28029His) n.447-17198A>T n.2043+11741A>T c.88106T>A (p.Leu29369His) c.62000T>A (p.Leu20667His) c.61859T>A (p.Leu20620His) c.87902T>A (p.Leu29301His) c.83300T>A (p.Leu27767His) c.83297T>A (p.Leu27766His) c.80339T>A (p.Leu26780His) c.61955T>A (p.Leu20652His) c.83450T>A (p.Leu27817His) c.83447T>A (p.Leu27816His) c.82880T>A (p.Leu27627His) c.80222T>A (p.Leu26741His) c.80141T>A (p.Leu26714His) c.61904T>A (p.Leu20635His) c.51758T>A (p.Leu17253His) | |
| 2 | g.178554103G>A | CA349521643 | TTN,TTN-AS1 | c.81304C>T (p.Leu27102Phe) c.62389C>T (p.Leu20797Phe) c.62188C>T (p.Leu20730Phe) c.61813C>T (p.Leu20605Phe) c.89008C>T (p.Leu29670Phe) c.84085C>T (p.Leu28029Phe) n.447-17197G>A n.2043+11742G>A c.88105C>T (p.Leu29369Phe) c.61999C>T (p.Leu20667Phe) c.61858C>T (p.Leu20620Phe) c.87901C>T (p.Leu29301Phe) c.83299C>T (p.Leu27767Phe) c.83296C>T (p.Leu27766Phe) c.80338C>T (p.Leu26780Phe) c.61954C>T (p.Leu20652Phe) c.83449C>T (p.Leu27817Phe) c.83446C>T (p.Leu27816Phe) c.82879C>T (p.Leu27627Phe) c.80221C>T (p.Leu26741Phe) c.80140C>T (p.Leu26714Phe) c.61903C>T (p.Leu20635Phe) c.51757C>T (p.Leu17253Phe) | |
| 2 | g.178554103G>C | CA349521649 | TTN,TTN-AS1 | c.81304C>G (p.Leu27102Val) c.62389C>G (p.Leu20797Val) c.62188C>G (p.Leu20730Val) c.61813C>G (p.Leu20605Val) c.89008C>G (p.Leu29670Val) c.84085C>G (p.Leu28029Val) n.447-17197G>C n.2043+11742G>C c.88105C>G (p.Leu29369Val) c.61999C>G (p.Leu20667Val) c.61858C>G (p.Leu20620Val) c.87901C>G (p.Leu29301Val) c.83299C>G (p.Leu27767Val) c.83296C>G (p.Leu27766Val) c.80338C>G (p.Leu26780Val) c.61954C>G (p.Leu20652Val) c.83449C>G (p.Leu27817Val) c.83446C>G (p.Leu27816Val) c.82879C>G (p.Leu27627Val) c.80221C>G (p.Leu26741Val) c.80140C>G (p.Leu26714Val) c.61903C>G (p.Leu20635Val) c.51757C>G (p.Leu17253Val) | |
| 2 | g.178554103G>T | CA349521650 | TTN,TTN-AS1 | c.81304C>A (p.Leu27102Ile) c.62389C>A (p.Leu20797Ile) c.62188C>A (p.Leu20730Ile) c.61813C>A (p.Leu20605Ile) c.89008C>A (p.Leu29670Ile) c.84085C>A (p.Leu28029Ile) n.447-17197G>T n.2043+11742G>T c.88105C>A (p.Leu29369Ile) c.61999C>A (p.Leu20667Ile) c.61858C>A (p.Leu20620Ile) c.87901C>A (p.Leu29301Ile) c.83299C>A (p.Leu27767Ile) c.83296C>A (p.Leu27766Ile) c.80338C>A (p.Leu26780Ile) c.61954C>A (p.Leu20652Ile) c.83449C>A (p.Leu27817Ile) c.83446C>A (p.Leu27816Ile) c.82879C>A (p.Leu27627Ile) c.80221C>A (p.Leu26741Ile) c.80140C>A (p.Leu26714Ile) c.61903C>A (p.Leu20635Ile) c.51757C>A (p.Leu17253Ile) | |
| 2 | g.178554104G>A | CA430246301 | TTN,TTN-AS1 | c.81303C>T (p.Phe27101=) c.62388C>T (p.Phe20796=) c.62187C>T (p.Phe20729=) c.61812C>T (p.Phe20604=) c.89007C>T (p.Phe29669=) c.84084C>T (p.Phe28028=) n.447-17196G>A n.2043+11743G>A c.88104C>T (p.Phe29368=) c.61998C>T (p.Phe20666=) c.61857C>T (p.Phe20619=) c.87900C>T (p.Phe29300=) c.83298C>T (p.Phe27766=) c.83295C>T (p.Phe27765=) c.80337C>T (p.Phe26779=) c.61953C>T (p.Phe20651=) c.83448C>T (p.Phe27816=) c.83445C>T (p.Phe27815=) c.82878C>T (p.Phe27626=) c.80220C>T (p.Phe26740=) c.80139C>T (p.Phe26713=) c.61902C>T (p.Phe20634=) c.51756C>T (p.Phe17252=) | |
| 2 | g.178554104G>C | CA349521654 | TTN,TTN-AS1 | c.81303C>G (p.Phe27101Leu) c.62388C>G (p.Phe20796Leu) c.62187C>G (p.Phe20729Leu) c.61812C>G (p.Phe20604Leu) c.89007C>G (p.Phe29669Leu) c.84084C>G (p.Phe28028Leu) n.447-17196G>C n.2043+11743G>C c.88104C>G (p.Phe29368Leu) c.61998C>G (p.Phe20666Leu) c.61857C>G (p.Phe20619Leu) c.87900C>G (p.Phe29300Leu) c.83298C>G (p.Phe27766Leu) c.83295C>G (p.Phe27765Leu) c.80337C>G (p.Phe26779Leu) c.61953C>G (p.Phe20651Leu) c.83448C>G (p.Phe27816Leu) c.83445C>G (p.Phe27815Leu) c.82878C>G (p.Phe27626Leu) c.80220C>G (p.Phe26740Leu) c.80139C>G (p.Phe26713Leu) c.61902C>G (p.Phe20634Leu) c.51756C>G (p.Phe17252Leu) | |
| 2 | g.178554104G>T | CA349521657 | TTN,TTN-AS1 | c.81303C>A (p.Phe27101Leu) c.62388C>A (p.Phe20796Leu) c.62187C>A (p.Phe20729Leu) c.61812C>A (p.Phe20604Leu) c.89007C>A (p.Phe29669Leu) c.84084C>A (p.Phe28028Leu) n.447-17196G>T n.2043+11743G>T c.88104C>A (p.Phe29368Leu) c.61998C>A (p.Phe20666Leu) c.61857C>A (p.Phe20619Leu) c.87900C>A (p.Phe29300Leu) c.83298C>A (p.Phe27766Leu) c.83295C>A (p.Phe27765Leu) c.80337C>A (p.Phe26779Leu) c.61953C>A (p.Phe20651Leu) c.83448C>A (p.Phe27816Leu) c.83445C>A (p.Phe27815Leu) c.82878C>A (p.Phe27626Leu) c.80220C>A (p.Phe26740Leu) c.80139C>A (p.Phe26713Leu) c.61902C>A (p.Phe20634Leu) c.51756C>A (p.Phe17252Leu) | |
| 2 | g.178554104_178554105delinsGA | CA1310523364 | TTN,TTN-AS1 | c.81302_81303delinsTC (p.Phe27101=) c.62387_62388delinsTC (p.Phe20796=) c.62186_62187delinsTC (p.Phe20729=) c.61811_61812delinsTC (p.Phe20604=) c.89006_89007delinsTC (p.Phe29669=) c.84083_84084delinsTC (p.Phe28028=) n.447-17196_447-17195delinsGA n.2043+11743_2043+11744delinsGA c.88103_88104delinsTC (p.Phe29368=) c.61997_61998delinsTC (p.Phe20666=) c.61856_61857delinsTC (p.Phe20619=) c.87899_87900delinsTC (p.Phe29300=) c.83297_83298delinsTC (p.Phe27766=) c.83294_83295delinsTC (p.Phe27765=) c.80336_80337delinsTC (p.Phe26779=) c.61952_61953delinsTC (p.Phe20651=) c.83447_83448delinsTC (p.Phe27816=) c.83444_83445delinsTC (p.Phe27815=) c.82877_82878delinsTC (p.Phe27626=) c.80219_80220delinsTC (p.Phe26740=) c.80138_80139delinsTC (p.Phe26713=) c.61901_61902delinsTC (p.Phe20634=) c.51755_51756delinsTC (p.Phe17252=) | |
| 2 | g.178554105A>C | CA349521658 | TTN,TTN-AS1 | c.81302T>G (p.Phe27101Cys) c.62387T>G (p.Phe20796Cys) c.62186T>G (p.Phe20729Cys) c.61811T>G (p.Phe20604Cys) c.89006T>G (p.Phe29669Cys) c.84083T>G (p.Phe28028Cys) n.447-17195A>C n.2043+11744A>C c.88103T>G (p.Phe29368Cys) c.61997T>G (p.Phe20666Cys) c.61856T>G (p.Phe20619Cys) c.87899T>G (p.Phe29300Cys) c.83297T>G (p.Phe27766Cys) c.83294T>G (p.Phe27765Cys) c.80336T>G (p.Phe26779Cys) c.61952T>G (p.Phe20651Cys) c.83447T>G (p.Phe27816Cys) c.83444T>G (p.Phe27815Cys) c.82877T>G (p.Phe27626Cys) c.80219T>G (p.Phe26740Cys) c.80138T>G (p.Phe26713Cys) c.61901T>G (p.Phe20634Cys) c.51755T>G (p.Phe17252Cys) | |
| 2 | g.178554105A>G | CA349521659 | TTN,TTN-AS1 | c.81302T>C (p.Phe27101Ser) c.62387T>C (p.Phe20796Ser) c.62186T>C (p.Phe20729Ser) c.61811T>C (p.Phe20604Ser) c.89006T>C (p.Phe29669Ser) c.84083T>C (p.Phe28028Ser) n.447-17195A>G n.2043+11744A>G c.88103T>C (p.Phe29368Ser) c.61997T>C (p.Phe20666Ser) c.61856T>C (p.Phe20619Ser) c.87899T>C (p.Phe29300Ser) c.83297T>C (p.Phe27766Ser) c.83294T>C (p.Phe27765Ser) c.80336T>C (p.Phe26779Ser) c.61952T>C (p.Phe20651Ser) c.83447T>C (p.Phe27816Ser) c.83444T>C (p.Phe27815Ser) c.82877T>C (p.Phe27626Ser) c.80219T>C (p.Phe26740Ser) c.80138T>C (p.Phe26713Ser) c.61901T>C (p.Phe20634Ser) c.51755T>C (p.Phe17252Ser) | gnomAD v4 |
| 2 | g.178554105A>T | CA349521660 | TTN,TTN-AS1 | c.81302T>A (p.Phe27101Tyr) c.62387T>A (p.Phe20796Tyr) c.62186T>A (p.Phe20729Tyr) c.61811T>A (p.Phe20604Tyr) c.89006T>A (p.Phe29669Tyr) c.84083T>A (p.Phe28028Tyr) n.447-17195A>T n.2043+11744A>T c.88103T>A (p.Phe29368Tyr) c.61997T>A (p.Phe20666Tyr) c.61856T>A (p.Phe20619Tyr) c.87899T>A (p.Phe29300Tyr) c.83297T>A (p.Phe27766Tyr) c.83294T>A (p.Phe27765Tyr) c.80336T>A (p.Phe26779Tyr) c.61952T>A (p.Phe20651Tyr) c.83447T>A (p.Phe27816Tyr) c.83444T>A (p.Phe27815Tyr) c.82877T>A (p.Phe27626Tyr) c.80219T>A (p.Phe26740Tyr) c.80138T>A (p.Phe26713Tyr) c.61901T>A (p.Phe20634Tyr) c.51755T>A (p.Phe17252Tyr) | ClinVar |
| 2 | g.178554107dup | CA309452 | TTN,TTN-AS1 | c.81302dup (p.Leu27102ProfsTer2) c.62387dup (p.Leu20797ProfsTer2) c.62186dup (p.Leu20730ProfsTer2) c.61811dup (p.Leu20605ProfsTer2) c.89006dup (p.Leu29670ProfsTer2) c.84083dup (p.Leu28029ProfsTer2) n.447-17193dup n.2043+11746dup c.88103dup (p.Leu29369ProfsTer2) c.61997dup (p.Leu20667ProfsTer2) c.61856dup (p.Leu20620ProfsTer2) c.87899dup (p.Leu29301ProfsTer2) c.83297dup (p.Leu27767ProfsTer2) c.83294dup (p.Leu27766ProfsTer2) c.80336dup (p.Leu26780ProfsTer2) c.61952dup (p.Leu20652ProfsTer2) c.83447dup (p.Leu27817ProfsTer2) c.83444dup (p.Leu27816ProfsTer2) c.82877dup (p.Leu27627ProfsTer2) c.80219dup (p.Leu26741ProfsTer2) c.80138dup (p.Leu26714ProfsTer2) c.61901dup (p.Leu20635ProfsTer2) c.51755dup (p.Leu17253ProfsTer2) | ClinVar dbSNP |
| 2 | g.178554107del | CA915942184 | TTN,TTN-AS1 | c.81302del (p.Phe27101SerfsTer10) c.62387del (p.Phe20796SerfsTer10) c.62186del (p.Phe20729SerfsTer10) c.61811del (p.Phe20604SerfsTer10) c.89006del (p.Phe29669SerfsTer10) c.84083del (p.Phe28028SerfsTer10) n.447-17193del n.2043+11746del c.88103del (p.Phe29368SerfsTer10) c.61997del (p.Phe20666SerfsTer10) c.61856del (p.Phe20619SerfsTer10) c.87899del (p.Phe29300SerfsTer10) c.83297del (p.Phe27766SerfsTer10) c.83294del (p.Phe27765SerfsTer10) c.80336del (p.Phe26779SerfsTer10) c.61952del (p.Phe20651SerfsTer10) c.83447del (p.Phe27816SerfsTer10) c.83444del (p.Phe27815SerfsTer10) c.82877del (p.Phe27626SerfsTer10) c.80219del (p.Phe26740SerfsTer10) c.80138del (p.Phe26713SerfsTer10) c.61901del (p.Phe20634SerfsTer10) c.51755del (p.Phe17252SerfsTer10) | ClinVar dbSNP |
| 2 | g.178554106A>C | CA349521665 | TTN,TTN-AS1 | c.81301T>G (p.Phe27101Val) c.62386T>G (p.Phe20796Val) c.62185T>G (p.Phe20729Val) c.61810T>G (p.Phe20604Val) c.89005T>G (p.Phe29669Val) c.84082T>G (p.Phe28028Val) n.447-17194A>C n.2043+11745A>C c.88102T>G (p.Phe29368Val) c.61996T>G (p.Phe20666Val) c.61855T>G (p.Phe20619Val) c.87898T>G (p.Phe29300Val) c.83296T>G (p.Phe27766Val) c.83293T>G (p.Phe27765Val) c.80335T>G (p.Phe26779Val) c.61951T>G (p.Phe20651Val) c.83446T>G (p.Phe27816Val) c.83443T>G (p.Phe27815Val) c.82876T>G (p.Phe27626Val) c.80218T>G (p.Phe26740Val) c.80137T>G (p.Phe26713Val) c.61900T>G (p.Phe20634Val) c.51754T>G (p.Phe17252Val) | |
| 2 | g.178554106A>G | CA349521667 | TTN,TTN-AS1 | c.81301T>C (p.Phe27101Leu) c.62386T>C (p.Phe20796Leu) c.62185T>C (p.Phe20729Leu) c.61810T>C (p.Phe20604Leu) c.89005T>C (p.Phe29669Leu) c.84082T>C (p.Phe28028Leu) n.447-17194A>G n.2043+11745A>G c.88102T>C (p.Phe29368Leu) c.61996T>C (p.Phe20666Leu) c.61855T>C (p.Phe20619Leu) c.87898T>C (p.Phe29300Leu) c.83296T>C (p.Phe27766Leu) c.83293T>C (p.Phe27765Leu) c.80335T>C (p.Phe26779Leu) c.61951T>C (p.Phe20651Leu) c.83446T>C (p.Phe27816Leu) c.83443T>C (p.Phe27815Leu) c.82876T>C (p.Phe27626Leu) c.80218T>C (p.Phe26740Leu) c.80137T>C (p.Phe26713Leu) c.61900T>C (p.Phe20634Leu) c.51754T>C (p.Phe17252Leu) | |
| 2 | g.178554106A>T | CA349521668 | TTN,TTN-AS1 | c.81301T>A (p.Phe27101Ile) c.62386T>A (p.Phe20796Ile) c.62185T>A (p.Phe20729Ile) c.61810T>A (p.Phe20604Ile) c.89005T>A (p.Phe29669Ile) c.84082T>A (p.Phe28028Ile) n.447-17194A>T n.2043+11745A>T c.88102T>A (p.Phe29368Ile) c.61996T>A (p.Phe20666Ile) c.61855T>A (p.Phe20619Ile) c.87898T>A (p.Phe29300Ile) c.83296T>A (p.Phe27766Ile) c.83293T>A (p.Phe27765Ile) c.80335T>A (p.Phe26779Ile) c.61951T>A (p.Phe20651Ile) c.83446T>A (p.Phe27816Ile) c.83443T>A (p.Phe27815Ile) c.82876T>A (p.Phe27626Ile) c.80218T>A (p.Phe26740Ile) c.80137T>A (p.Phe26713Ile) c.61900T>A (p.Phe20634Ile) c.51754T>A (p.Phe17252Ile) | |
| 2 | g.178554107A>C | CA349521672 | TTN,TTN-AS1 | c.81300T>G (p.Tyr27100Ter) c.62385T>G (p.Tyr20795Ter) c.62184T>G (p.Tyr20728Ter) c.61809T>G (p.Tyr20603Ter) c.89004T>G (p.Tyr29668Ter) c.84081T>G (p.Tyr28027Ter) n.447-17193A>C n.2043+11746A>C c.88101T>G (p.Tyr29367Ter) c.61995T>G (p.Tyr20665Ter) c.61854T>G (p.Tyr20618Ter) c.87897T>G (p.Tyr29299Ter) c.83295T>G (p.Tyr27765Ter) c.83292T>G (p.Tyr27764Ter) c.80334T>G (p.Tyr26778Ter) c.61950T>G (p.Tyr20650Ter) c.83445T>G (p.Tyr27815Ter) c.83442T>G (p.Tyr27814Ter) c.82875T>G (p.Tyr27625Ter) c.80217T>G (p.Tyr26739Ter) c.80136T>G (p.Tyr26712Ter) c.61899T>G (p.Tyr20633Ter) c.51753T>G (p.Tyr17251Ter) | |
| 2 | g.178554107A>G | CA430246307 | TTN,TTN-AS1 | c.81300T>C (p.Tyr27100=) c.62385T>C (p.Tyr20795=) c.62184T>C (p.Tyr20728=) c.61809T>C (p.Tyr20603=) c.89004T>C (p.Tyr29668=) c.84081T>C (p.Tyr28027=) n.447-17193A>G n.2043+11746A>G c.88101T>C (p.Tyr29367=) c.61995T>C (p.Tyr20665=) c.61854T>C (p.Tyr20618=) c.87897T>C (p.Tyr29299=) c.83295T>C (p.Tyr27765=) c.83292T>C (p.Tyr27764=) c.80334T>C (p.Tyr26778=) c.61950T>C (p.Tyr20650=) c.83445T>C (p.Tyr27815=) c.83442T>C (p.Tyr27814=) c.82875T>C (p.Tyr27625=) c.80217T>C (p.Tyr26739=) c.80136T>C (p.Tyr26712=) c.61899T>C (p.Tyr20633=) c.51753T>C (p.Tyr17251=) | |
| 2 | g.178554107A>T | CA349521671 | TTN,TTN-AS1 | c.81300T>A (p.Tyr27100Ter) c.62385T>A (p.Tyr20795Ter) c.62184T>A (p.Tyr20728Ter) c.61809T>A (p.Tyr20603Ter) c.89004T>A (p.Tyr29668Ter) c.84081T>A (p.Tyr28027Ter) n.447-17193A>T n.2043+11746A>T c.88101T>A (p.Tyr29367Ter) c.61995T>A (p.Tyr20665Ter) c.61854T>A (p.Tyr20618Ter) c.87897T>A (p.Tyr29299Ter) c.83295T>A (p.Tyr27765Ter) c.83292T>A (p.Tyr27764Ter) c.80334T>A (p.Tyr26778Ter) c.61950T>A (p.Tyr20650Ter) c.83445T>A (p.Tyr27815Ter) c.83442T>A (p.Tyr27814Ter) c.82875T>A (p.Tyr27625Ter) c.80217T>A (p.Tyr26739Ter) c.80136T>A (p.Tyr26712Ter) c.61899T>A (p.Tyr20633Ter) c.51753T>A (p.Tyr17251Ter) | |
| 2 | g.178554108T>A | CA1988002 | TTN,TTN-AS1 | c.81299A>T (p.Tyr27100Phe) c.62384A>T (p.Tyr20795Phe) c.62183A>T (p.Tyr20728Phe) c.61808A>T (p.Tyr20603Phe) c.89003A>T (p.Tyr29668Phe) c.84080A>T (p.Tyr28027Phe) n.447-17192T>A n.2043+11747T>A c.88100A>T (p.Tyr29367Phe) c.61994A>T (p.Tyr20665Phe) c.61853A>T (p.Tyr20618Phe) c.87896A>T (p.Tyr29299Phe) c.83294A>T (p.Tyr27765Phe) c.83291A>T (p.Tyr27764Phe) c.80333A>T (p.Tyr26778Phe) c.61949A>T (p.Tyr20650Phe) c.83444A>T (p.Tyr27815Phe) c.83441A>T (p.Tyr27814Phe) c.82874A>T (p.Tyr27625Phe) c.80216A>T (p.Tyr26739Phe) c.80135A>T (p.Tyr26712Phe) c.61898A>T (p.Tyr20633Phe) c.51752A>T (p.Tyr17251Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178554108T>C | CA349521674 | TTN,TTN-AS1 | c.81299A>G (p.Tyr27100Cys) c.62384A>G (p.Tyr20795Cys) c.62183A>G (p.Tyr20728Cys) c.61808A>G (p.Tyr20603Cys) c.89003A>G (p.Tyr29668Cys) c.84080A>G (p.Tyr28027Cys) n.447-17192T>C n.2043+11747T>C c.88100A>G (p.Tyr29367Cys) c.61994A>G (p.Tyr20665Cys) c.61853A>G (p.Tyr20618Cys) c.87896A>G (p.Tyr29299Cys) c.83294A>G (p.Tyr27765Cys) c.83291A>G (p.Tyr27764Cys) c.80333A>G (p.Tyr26778Cys) c.61949A>G (p.Tyr20650Cys) c.83444A>G (p.Tyr27815Cys) c.83441A>G (p.Tyr27814Cys) c.82874A>G (p.Tyr27625Cys) c.80216A>G (p.Tyr26739Cys) c.80135A>G (p.Tyr26712Cys) c.61898A>G (p.Tyr20633Cys) c.51752A>G (p.Tyr17251Cys) |