Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178591107_178591111del | CA2577171113 | TTN,TTN-AS1 | c.52912_52916del (p.Asn17638TyrfsTer3) c.33997_34001del (p.Asn11333TyrfsTer3) c.33796_33800del (p.Asn11266TyrfsTer3) c.33421_33425del (p.Asn11141TyrfsTer3) c.60616_60620del (p.Asn20206TyrfsTer3) c.55693_55697del (p.Asn18565TyrfsTer3) n.597-6489_597-6485del n.3189-32_3189-28del c.59713_59717del (p.Asn19905TyrfsTer3) c.33607_33611del (p.Asn11203TyrfsTer3) c.33466_33470del (p.Asn11156TyrfsTer3) c.59509_59513del (p.Asn19837TyrfsTer3) c.54907_54911del (p.Asn18303TyrfsTer3) c.54904_54908del (p.Asn18302TyrfsTer3) c.51946_51950del (p.Asn17316TyrfsTer3) c.33562_33566del (p.Asn11188TyrfsTer3) c.55057_55061del (p.Asn18353TyrfsTer3) c.55054_55058del (p.Asn18352TyrfsTer3) c.54487_54491del (p.Asn18163TyrfsTer3) c.51829_51833del (p.Asn17277TyrfsTer3) c.51748_51752del (p.Asn17250TyrfsTer3) c.33511_33515del (p.Asn11171TyrfsTer3) c.23365_23369del (p.Asn7789TyrfsTer3) | |
2 | g.178591107del | CA2586965396 | TTN,TTN-AS1 | c.52915del (p.Tyr17639IlefsTer25) c.34000del (p.Tyr11334IlefsTer25) c.33799del (p.Tyr11267IlefsTer25) c.33424del (p.Tyr11142IlefsTer25) c.60619del (p.Tyr20207IlefsTer25) c.55696del (p.Tyr18566IlefsTer25) n.597-6489del n.3189-32del c.59716del (p.Tyr19906IlefsTer25) c.33610del (p.Tyr11204IlefsTer25) c.33469del (p.Tyr11157IlefsTer25) c.59512del (p.Tyr19838IlefsTer25) c.54910del (p.Tyr18304IlefsTer25) c.54907del (p.Tyr18303IlefsTer25) c.51949del (p.Tyr17317IlefsTer25) c.33565del (p.Tyr11189IlefsTer25) c.55060del (p.Tyr18354IlefsTer25) c.55057del (p.Tyr18353IlefsTer25) c.54490del (p.Tyr18164IlefsTer25) c.51832del (p.Tyr17278IlefsTer25) c.51751del (p.Tyr17251IlefsTer25) c.33514del (p.Tyr11172IlefsTer25) c.23368del (p.Tyr7790IlefsTer25) | |
2 | g.178591107A>C | CA349483509 | TTN,TTN-AS1 | c.52914T>G (p.Asn17638Lys) c.33999T>G (p.Asn11333Lys) c.33798T>G (p.Asn11266Lys) c.33423T>G (p.Asn11141Lys) c.60618T>G (p.Asn20206Lys) c.55695T>G (p.Asn18565Lys) n.597-6489A>C n.3189-32A>C c.59715T>G (p.Asn19905Lys) c.33609T>G (p.Asn11203Lys) c.33468T>G (p.Asn11156Lys) c.59511T>G (p.Asn19837Lys) c.54909T>G (p.Asn18303Lys) c.54906T>G (p.Asn18302Lys) c.51948T>G (p.Asn17316Lys) c.33564T>G (p.Asn11188Lys) c.55059T>G (p.Asn18353Lys) c.55056T>G (p.Asn18352Lys) c.54489T>G (p.Asn18163Lys) c.51831T>G (p.Asn17277Lys) c.51750T>G (p.Asn17250Lys) c.33513T>G (p.Asn11171Lys) c.23367T>G (p.Asn7789Lys) | |
2 | g.178591107A>G | CA430266483 | TTN,TTN-AS1 | c.52914T>C (p.Asn17638=) c.33999T>C (p.Asn11333=) c.33798T>C (p.Asn11266=) c.33423T>C (p.Asn11141=) c.60618T>C (p.Asn20206=) c.55695T>C (p.Asn18565=) n.597-6489A>G n.3189-32A>G c.59715T>C (p.Asn19905=) c.33609T>C (p.Asn11203=) c.33468T>C (p.Asn11156=) c.59511T>C (p.Asn19837=) c.54909T>C (p.Asn18303=) c.54906T>C (p.Asn18302=) c.51948T>C (p.Asn17316=) c.33564T>C (p.Asn11188=) c.55059T>C (p.Asn18353=) c.55056T>C (p.Asn18352=) c.54489T>C (p.Asn18163=) c.51831T>C (p.Asn17277=) c.51750T>C (p.Asn17250=) c.33513T>C (p.Asn11171=) c.23367T>C (p.Asn7789=) | |
2 | g.178591107A>T | CA349483511 | TTN,TTN-AS1 | c.52914T>A (p.Asn17638Lys) c.33999T>A (p.Asn11333Lys) c.33798T>A (p.Asn11266Lys) c.33423T>A (p.Asn11141Lys) c.60618T>A (p.Asn20206Lys) c.55695T>A (p.Asn18565Lys) n.597-6489A>T n.3189-32A>T c.59715T>A (p.Asn19905Lys) c.33609T>A (p.Asn11203Lys) c.33468T>A (p.Asn11156Lys) c.59511T>A (p.Asn19837Lys) c.54909T>A (p.Asn18303Lys) c.54906T>A (p.Asn18302Lys) c.51948T>A (p.Asn17316Lys) c.33564T>A (p.Asn11188Lys) c.55059T>A (p.Asn18353Lys) c.55056T>A (p.Asn18352Lys) c.54489T>A (p.Asn18163Lys) c.51831T>A (p.Asn17277Lys) c.51750T>A (p.Asn17250Lys) c.33513T>A (p.Asn11171Lys) c.23367T>A (p.Asn7789Lys) | |
2 | g.178591108T>A | CA349483514 | TTN,TTN-AS1 | c.52913A>T (p.Asn17638Ile) c.33998A>T (p.Asn11333Ile) c.33797A>T (p.Asn11266Ile) c.33422A>T (p.Asn11141Ile) c.60617A>T (p.Asn20206Ile) c.55694A>T (p.Asn18565Ile) n.597-6488T>A n.3189-31T>A c.59714A>T (p.Asn19905Ile) c.33608A>T (p.Asn11203Ile) c.33467A>T (p.Asn11156Ile) c.59510A>T (p.Asn19837Ile) c.54908A>T (p.Asn18303Ile) c.54905A>T (p.Asn18302Ile) c.51947A>T (p.Asn17316Ile) c.33563A>T (p.Asn11188Ile) c.55058A>T (p.Asn18353Ile) c.55055A>T (p.Asn18352Ile) c.54488A>T (p.Asn18163Ile) c.51830A>T (p.Asn17277Ile) c.51749A>T (p.Asn17250Ile) c.33512A>T (p.Asn11171Ile) c.23366A>T (p.Asn7789Ile) | |
2 | g.178591108T>C | CA349483518 | TTN,TTN-AS1 | c.52913A>G (p.Asn17638Ser) c.33998A>G (p.Asn11333Ser) c.33797A>G (p.Asn11266Ser) c.33422A>G (p.Asn11141Ser) c.60617A>G (p.Asn20206Ser) c.55694A>G (p.Asn18565Ser) n.597-6488T>C n.3189-31T>C c.59714A>G (p.Asn19905Ser) c.33608A>G (p.Asn11203Ser) c.33467A>G (p.Asn11156Ser) c.59510A>G (p.Asn19837Ser) c.54908A>G (p.Asn18303Ser) c.54905A>G (p.Asn18302Ser) c.51947A>G (p.Asn17316Ser) c.33563A>G (p.Asn11188Ser) c.55058A>G (p.Asn18353Ser) c.55055A>G (p.Asn18352Ser) c.54488A>G (p.Asn18163Ser) c.51830A>G (p.Asn17277Ser) c.51749A>G (p.Asn17250Ser) c.33512A>G (p.Asn11171Ser) c.23366A>G (p.Asn7789Ser) | |
2 | g.178591108T>G | CA349483525 | TTN,TTN-AS1 | c.52913A>C (p.Asn17638Thr) c.33998A>C (p.Asn11333Thr) c.33797A>C (p.Asn11266Thr) c.33422A>C (p.Asn11141Thr) c.60617A>C (p.Asn20206Thr) c.55694A>C (p.Asn18565Thr) n.597-6488T>G n.3189-31T>G c.59714A>C (p.Asn19905Thr) c.33608A>C (p.Asn11203Thr) c.33467A>C (p.Asn11156Thr) c.59510A>C (p.Asn19837Thr) c.54908A>C (p.Asn18303Thr) c.54905A>C (p.Asn18302Thr) c.51947A>C (p.Asn17316Thr) c.33563A>C (p.Asn11188Thr) c.55058A>C (p.Asn18353Thr) c.55055A>C (p.Asn18352Thr) c.54488A>C (p.Asn18163Thr) c.51830A>C (p.Asn17277Thr) c.51749A>C (p.Asn17250Thr) c.33512A>C (p.Asn11171Thr) c.23366A>C (p.Asn7789Thr) | |
2 | g.178591109T>A | CA349483528 | TTN,TTN-AS1 | c.52912A>T (p.Asn17638Tyr) c.33997A>T (p.Asn11333Tyr) c.33796A>T (p.Asn11266Tyr) c.33421A>T (p.Asn11141Tyr) c.60616A>T (p.Asn20206Tyr) c.55693A>T (p.Asn18565Tyr) n.597-6487T>A n.3189-30T>A c.59713A>T (p.Asn19905Tyr) c.33607A>T (p.Asn11203Tyr) c.33466A>T (p.Asn11156Tyr) c.59509A>T (p.Asn19837Tyr) c.54907A>T (p.Asn18303Tyr) c.54904A>T (p.Asn18302Tyr) c.51946A>T (p.Asn17316Tyr) c.33562A>T (p.Asn11188Tyr) c.55057A>T (p.Asn18353Tyr) c.55054A>T (p.Asn18352Tyr) c.54487A>T (p.Asn18163Tyr) c.51829A>T (p.Asn17277Tyr) c.51748A>T (p.Asn17250Tyr) c.33511A>T (p.Asn11171Tyr) c.23365A>T (p.Asn7789Tyr) | |
2 | g.178591109T>C | CA349483542 | TTN,TTN-AS1 | c.52912A>G (p.Asn17638Asp) c.33997A>G (p.Asn11333Asp) c.33796A>G (p.Asn11266Asp) c.33421A>G (p.Asn11141Asp) c.60616A>G (p.Asn20206Asp) c.55693A>G (p.Asn18565Asp) n.597-6487T>C n.3189-30T>C c.59713A>G (p.Asn19905Asp) c.33607A>G (p.Asn11203Asp) c.33466A>G (p.Asn11156Asp) c.59509A>G (p.Asn19837Asp) c.54907A>G (p.Asn18303Asp) c.54904A>G (p.Asn18302Asp) c.51946A>G (p.Asn17316Asp) c.33562A>G (p.Asn11188Asp) c.55057A>G (p.Asn18353Asp) c.55054A>G (p.Asn18352Asp) c.54487A>G (p.Asn18163Asp) c.51829A>G (p.Asn17277Asp) c.51748A>G (p.Asn17250Asp) c.33511A>G (p.Asn11171Asp) c.23365A>G (p.Asn7789Asp) | |
2 | g.178591109T>G | CA349483545 | TTN,TTN-AS1 | c.52912A>C (p.Asn17638His) c.33997A>C (p.Asn11333His) c.33796A>C (p.Asn11266His) c.33421A>C (p.Asn11141His) c.60616A>C (p.Asn20206His) c.55693A>C (p.Asn18565His) n.597-6487T>G n.3189-30T>G c.59713A>C (p.Asn19905His) c.33607A>C (p.Asn11203His) c.33466A>C (p.Asn11156His) c.59509A>C (p.Asn19837His) c.54907A>C (p.Asn18303His) c.54904A>C (p.Asn18302His) c.51946A>C (p.Asn17316His) c.33562A>C (p.Asn11188His) c.55057A>C (p.Asn18353His) c.55054A>C (p.Asn18352His) c.54487A>C (p.Asn18163His) c.51829A>C (p.Asn17277His) c.51748A>C (p.Asn17250His) c.33511A>C (p.Asn11171His) c.23365A>C (p.Asn7789His) | |
2 | g.178591110T>A | CA430266484 | TTN,TTN-AS1 | c.52911A>T (p.Ile17637=) c.33996A>T (p.Ile11332=) c.33795A>T (p.Ile11265=) c.33420A>T (p.Ile11140=) c.60615A>T (p.Ile20205=) c.55692A>T (p.Ile18564=) n.597-6486T>A n.3189-29T>A c.59712A>T (p.Ile19904=) c.33606A>T (p.Ile11202=) c.33465A>T (p.Ile11155=) c.59508A>T (p.Ile19836=) c.54906A>T (p.Ile18302=) c.54903A>T (p.Ile18301=) c.51945A>T (p.Ile17315=) c.33561A>T (p.Ile11187=) c.55056A>T (p.Ile18352=) c.55053A>T (p.Ile18351=) c.54486A>T (p.Ile18162=) c.51828A>T (p.Ile17276=) c.51747A>T (p.Ile17249=) c.33510A>T (p.Ile11170=) c.23364A>T (p.Ile7788=) | |
2 | g.178591110T>C | CA349483550 | TTN,TTN-AS1 | c.52911A>G (p.Ile17637Met) c.33996A>G (p.Ile11332Met) c.33795A>G (p.Ile11265Met) c.33420A>G (p.Ile11140Met) c.60615A>G (p.Ile20205Met) c.55692A>G (p.Ile18564Met) n.597-6486T>C n.3189-29T>C c.59712A>G (p.Ile19904Met) c.33606A>G (p.Ile11202Met) c.33465A>G (p.Ile11155Met) c.59508A>G (p.Ile19836Met) c.54906A>G (p.Ile18302Met) c.54903A>G (p.Ile18301Met) c.51945A>G (p.Ile17315Met) c.33561A>G (p.Ile11187Met) c.55056A>G (p.Ile18352Met) c.55053A>G (p.Ile18351Met) c.54486A>G (p.Ile18162Met) c.51828A>G (p.Ile17276Met) c.51747A>G (p.Ile17249Met) c.33510A>G (p.Ile11170Met) c.23364A>G (p.Ile7788Met) | |
2 | g.178591110T>G | CA1992468 | TTN,TTN-AS1 | c.52911A>C (p.Ile17637=) c.33996A>C (p.Ile11332=) c.33795A>C (p.Ile11265=) c.33420A>C (p.Ile11140=) c.60615A>C (p.Ile20205=) c.55692A>C (p.Ile18564=) n.597-6486T>G n.3189-29T>G c.59712A>C (p.Ile19904=) c.33606A>C (p.Ile11202=) c.33465A>C (p.Ile11155=) c.59508A>C (p.Ile19836=) c.54906A>C (p.Ile18302=) c.54903A>C (p.Ile18301=) c.51945A>C (p.Ile17315=) c.33561A>C (p.Ile11187=) c.55056A>C (p.Ile18352=) c.55053A>C (p.Ile18351=) c.54486A>C (p.Ile18162=) c.51828A>C (p.Ile17276=) c.51747A>C (p.Ile17249=) c.33510A>C (p.Ile11170=) c.23364A>C (p.Ile7788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591110T= | CA1310539826 | TTN,TTN-AS1 | c.52911A= (p.Ile17637=) c.33996A= (p.Ile11332=) c.33795A= (p.Ile11265=) c.33420A= (p.Ile11140=) c.60615A= (p.Ile20205=) c.55692A= (p.Ile18564=) n.597-6486T= n.3189-29T= c.59712A= (p.Ile19904=) c.33606A= (p.Ile11202=) c.33465A= (p.Ile11155=) c.59508A= (p.Ile19836=) c.54906A= (p.Ile18302=) c.54903A= (p.Ile18301=) c.51945A= (p.Ile17315=) c.33561A= (p.Ile11187=) c.55056A= (p.Ile18352=) c.55053A= (p.Ile18351=) c.54486A= (p.Ile18162=) c.51828A= (p.Ile17276=) c.51747A= (p.Ile17249=) c.33510A= (p.Ile11170=) c.23364A= (p.Ile7788=) | |
2 | g.178591111A>C | CA349483555 | TTN,TTN-AS1 | c.52910T>G (p.Ile17637Arg) c.33995T>G (p.Ile11332Arg) c.33794T>G (p.Ile11265Arg) c.33419T>G (p.Ile11140Arg) c.60614T>G (p.Ile20205Arg) c.55691T>G (p.Ile18564Arg) n.597-6485A>C n.3189-28A>C c.59711T>G (p.Ile19904Arg) c.33605T>G (p.Ile11202Arg) c.33464T>G (p.Ile11155Arg) c.59507T>G (p.Ile19836Arg) c.54905T>G (p.Ile18302Arg) c.54902T>G (p.Ile18301Arg) c.51944T>G (p.Ile17315Arg) c.33560T>G (p.Ile11187Arg) c.55055T>G (p.Ile18352Arg) c.55052T>G (p.Ile18351Arg) c.54485T>G (p.Ile18162Arg) c.51827T>G (p.Ile17276Arg) c.51746T>G (p.Ile17249Arg) c.33509T>G (p.Ile11170Arg) c.23363T>G (p.Ile7788Arg) | |
2 | g.178591111A>G | CA349483561 | TTN,TTN-AS1 | c.52910T>C (p.Ile17637Thr) c.33995T>C (p.Ile11332Thr) c.33794T>C (p.Ile11265Thr) c.33419T>C (p.Ile11140Thr) c.60614T>C (p.Ile20205Thr) c.55691T>C (p.Ile18564Thr) n.597-6485A>G n.3189-28A>G c.59711T>C (p.Ile19904Thr) c.33605T>C (p.Ile11202Thr) c.33464T>C (p.Ile11155Thr) c.59507T>C (p.Ile19836Thr) c.54905T>C (p.Ile18302Thr) c.54902T>C (p.Ile18301Thr) c.51944T>C (p.Ile17315Thr) c.33560T>C (p.Ile11187Thr) c.55055T>C (p.Ile18352Thr) c.55052T>C (p.Ile18351Thr) c.54485T>C (p.Ile18162Thr) c.51827T>C (p.Ile17276Thr) c.51746T>C (p.Ile17249Thr) c.33509T>C (p.Ile11170Thr) c.23363T>C (p.Ile7788Thr) | |
2 | g.178591111A>T | CA349483568 | TTN,TTN-AS1 | c.52910T>A (p.Ile17637Lys) c.33995T>A (p.Ile11332Lys) c.33794T>A (p.Ile11265Lys) c.33419T>A (p.Ile11140Lys) c.60614T>A (p.Ile20205Lys) c.55691T>A (p.Ile18564Lys) n.597-6485A>T n.3189-28A>T c.59711T>A (p.Ile19904Lys) c.33605T>A (p.Ile11202Lys) c.33464T>A (p.Ile11155Lys) c.59507T>A (p.Ile19836Lys) c.54905T>A (p.Ile18302Lys) c.54902T>A (p.Ile18301Lys) c.51944T>A (p.Ile17315Lys) c.33560T>A (p.Ile11187Lys) c.55055T>A (p.Ile18352Lys) c.55052T>A (p.Ile18351Lys) c.54485T>A (p.Ile18162Lys) c.51827T>A (p.Ile17276Lys) c.51746T>A (p.Ile17249Lys) c.33509T>A (p.Ile11170Lys) c.23363T>A (p.Ile7788Lys) | |
2 | g.178591112T>A | CA349483572 | TTN,TTN-AS1 | c.52909A>T (p.Ile17637Leu) c.33994A>T (p.Ile11332Leu) c.33793A>T (p.Ile11265Leu) c.33418A>T (p.Ile11140Leu) c.60613A>T (p.Ile20205Leu) c.55690A>T (p.Ile18564Leu) n.597-6484T>A n.3189-27T>A c.59710A>T (p.Ile19904Leu) c.33604A>T (p.Ile11202Leu) c.33463A>T (p.Ile11155Leu) c.59506A>T (p.Ile19836Leu) c.54904A>T (p.Ile18302Leu) c.54901A>T (p.Ile18301Leu) c.51943A>T (p.Ile17315Leu) c.33559A>T (p.Ile11187Leu) c.55054A>T (p.Ile18352Leu) c.55051A>T (p.Ile18351Leu) c.54484A>T (p.Ile18162Leu) c.51826A>T (p.Ile17276Leu) c.51745A>T (p.Ile17249Leu) c.33508A>T (p.Ile11170Leu) c.23362A>T (p.Ile7788Leu) | |
2 | g.178591112T>C | CA349483574 | TTN,TTN-AS1 | c.52909A>G (p.Ile17637Val) c.33994A>G (p.Ile11332Val) c.33793A>G (p.Ile11265Val) c.33418A>G (p.Ile11140Val) c.60613A>G (p.Ile20205Val) c.55690A>G (p.Ile18564Val) n.597-6484T>C n.3189-27T>C c.59710A>G (p.Ile19904Val) c.33604A>G (p.Ile11202Val) c.33463A>G (p.Ile11155Val) c.59506A>G (p.Ile19836Val) c.54904A>G (p.Ile18302Val) c.54901A>G (p.Ile18301Val) c.51943A>G (p.Ile17315Val) c.33559A>G (p.Ile11187Val) c.55054A>G (p.Ile18352Val) c.55051A>G (p.Ile18351Val) c.54484A>G (p.Ile18162Val) c.51826A>G (p.Ile17276Val) c.51745A>G (p.Ile17249Val) c.33508A>G (p.Ile11170Val) c.23362A>G (p.Ile7788Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591112T>G | CA349483576 | TTN,TTN-AS1 | c.52909A>C (p.Ile17637Leu) c.33994A>C (p.Ile11332Leu) c.33793A>C (p.Ile11265Leu) c.33418A>C (p.Ile11140Leu) c.60613A>C (p.Ile20205Leu) c.55690A>C (p.Ile18564Leu) n.597-6484T>G n.3189-27T>G c.59710A>C (p.Ile19904Leu) c.33604A>C (p.Ile11202Leu) c.33463A>C (p.Ile11155Leu) c.59506A>C (p.Ile19836Leu) c.54904A>C (p.Ile18302Leu) c.54901A>C (p.Ile18301Leu) c.51943A>C (p.Ile17315Leu) c.33559A>C (p.Ile11187Leu) c.55054A>C (p.Ile18352Leu) c.55051A>C (p.Ile18351Leu) c.54484A>C (p.Ile18162Leu) c.51826A>C (p.Ile17276Leu) c.51745A>C (p.Ile17249Leu) c.33508A>C (p.Ile11170Leu) c.23362A>C (p.Ile7788Leu) | |
2 | g.178591112T= | CA1310539828 | TTN,TTN-AS1 | c.52909A= (p.Ile17637=) c.33994A= (p.Ile11332=) c.33793A= (p.Ile11265=) c.33418A= (p.Ile11140=) c.60613A= (p.Ile20205=) c.55690A= (p.Ile18564=) n.597-6484T= n.3189-27T= c.59710A= (p.Ile19904=) c.33604A= (p.Ile11202=) c.33463A= (p.Ile11155=) c.59506A= (p.Ile19836=) c.54904A= (p.Ile18302=) c.54901A= (p.Ile18301=) c.51943A= (p.Ile17315=) c.33559A= (p.Ile11187=) c.55054A= (p.Ile18352=) c.55051A= (p.Ile18351=) c.54484A= (p.Ile18162=) c.51826A= (p.Ile17276=) c.51745A= (p.Ile17249=) c.33508A= (p.Ile11170=) c.23362A= (p.Ile7788=) | |
2 | g.178591113C>A | CA430266488 | TTN,TTN-AS1 | c.52908G>T (p.Val17636=) c.33993G>T (p.Val11331=) c.33792G>T (p.Val11264=) c.33417G>T (p.Val11139=) c.60612G>T (p.Val20204=) c.55689G>T (p.Val18563=) n.597-6483C>A n.3189-26C>A c.59709G>T (p.Val19903=) c.33603G>T (p.Val11201=) c.33462G>T (p.Val11154=) c.59505G>T (p.Val19835=) c.54903G>T (p.Val18301=) c.54900G>T (p.Val18300=) c.51942G>T (p.Val17314=) c.33558G>T (p.Val11186=) c.55053G>T (p.Val18351=) c.55050G>T (p.Val18350=) c.54483G>T (p.Val18161=) c.51825G>T (p.Val17275=) c.51744G>T (p.Val17248=) c.33507G>T (p.Val11169=) c.23361G>T (p.Val7787=) | |
2 | g.178591113C= | CA1310539830 | TTN,TTN-AS1 | c.52908G= (p.Val17636=) c.33993G= (p.Val11331=) c.33792G= (p.Val11264=) c.33417G= (p.Val11139=) c.60612G= (p.Val20204=) c.55689G= (p.Val18563=) n.597-6483C= n.3189-26C= c.59709G= (p.Val19903=) c.33603G= (p.Val11201=) c.33462G= (p.Val11154=) c.59505G= (p.Val19835=) c.54903G= (p.Val18301=) c.54900G= (p.Val18300=) c.51942G= (p.Val17314=) c.33558G= (p.Val11186=) c.55053G= (p.Val18351=) c.55050G= (p.Val18350=) c.54483G= (p.Val18161=) c.51825G= (p.Val17275=) c.51744G= (p.Val17248=) c.33507G= (p.Val11169=) c.23361G= (p.Val7787=) | |
2 | g.178591113C>G | CA430266489 | TTN,TTN-AS1 | c.52908G>C (p.Val17636=) c.33993G>C (p.Val11331=) c.33792G>C (p.Val11264=) c.33417G>C (p.Val11139=) c.60612G>C (p.Val20204=) c.55689G>C (p.Val18563=) n.597-6483C>G n.3189-26C>G c.59709G>C (p.Val19903=) c.33603G>C (p.Val11201=) c.33462G>C (p.Val11154=) c.59505G>C (p.Val19835=) c.54903G>C (p.Val18301=) c.54900G>C (p.Val18300=) c.51942G>C (p.Val17314=) c.33558G>C (p.Val11186=) c.55053G>C (p.Val18351=) c.55050G>C (p.Val18350=) c.54483G>C (p.Val18161=) c.51825G>C (p.Val17275=) c.51744G>C (p.Val17248=) c.33507G>C (p.Val11169=) c.23361G>C (p.Val7787=) | |
2 | g.178591113C>T | CA60969652 | TTN,TTN-AS1 | c.52908G>A (p.Val17636=) c.33993G>A (p.Val11331=) c.33792G>A (p.Val11264=) c.33417G>A (p.Val11139=) c.60612G>A (p.Val20204=) c.55689G>A (p.Val18563=) n.597-6483C>T n.3189-26C>T c.59709G>A (p.Val19903=) c.33603G>A (p.Val11201=) c.33462G>A (p.Val11154=) c.59505G>A (p.Val19835=) c.54903G>A (p.Val18301=) c.54900G>A (p.Val18300=) c.51942G>A (p.Val17314=) c.33558G>A (p.Val11186=) c.55053G>A (p.Val18351=) c.55050G>A (p.Val18350=) c.54483G>A (p.Val18161=) c.51825G>A (p.Val17275=) c.51744G>A (p.Val17248=) c.33507G>A (p.Val11169=) c.23361G>A (p.Val7787=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178591114A>C | CA349483579 | TTN,TTN-AS1 | c.52907T>G (p.Val17636Gly) c.33992T>G (p.Val11331Gly) c.33791T>G (p.Val11264Gly) c.33416T>G (p.Val11139Gly) c.60611T>G (p.Val20204Gly) c.55688T>G (p.Val18563Gly) n.597-6482A>C n.3189-25A>C c.59708T>G (p.Val19903Gly) c.33602T>G (p.Val11201Gly) c.33461T>G (p.Val11154Gly) c.59504T>G (p.Val19835Gly) c.54902T>G (p.Val18301Gly) c.54899T>G (p.Val18300Gly) c.51941T>G (p.Val17314Gly) c.33557T>G (p.Val11186Gly) c.55052T>G (p.Val18351Gly) c.55049T>G (p.Val18350Gly) c.54482T>G (p.Val18161Gly) c.51824T>G (p.Val17275Gly) c.51743T>G (p.Val17248Gly) c.33506T>G (p.Val11169Gly) c.23360T>G (p.Val7787Gly) | |
2 | g.178591114A>G | CA349483581 | TTN,TTN-AS1 | c.52907T>C (p.Val17636Ala) c.33992T>C (p.Val11331Ala) c.33791T>C (p.Val11264Ala) c.33416T>C (p.Val11139Ala) c.60611T>C (p.Val20204Ala) c.55688T>C (p.Val18563Ala) n.597-6482A>G n.3189-25A>G c.59708T>C (p.Val19903Ala) c.33602T>C (p.Val11201Ala) c.33461T>C (p.Val11154Ala) c.59504T>C (p.Val19835Ala) c.54902T>C (p.Val18301Ala) c.54899T>C (p.Val18300Ala) c.51941T>C (p.Val17314Ala) c.33557T>C (p.Val11186Ala) c.55052T>C (p.Val18351Ala) c.55049T>C (p.Val18350Ala) c.54482T>C (p.Val18161Ala) c.51824T>C (p.Val17275Ala) c.51743T>C (p.Val17248Ala) c.33506T>C (p.Val11169Ala) c.23360T>C (p.Val7787Ala) | |
2 | g.178591114A>T | CA349483584 | TTN,TTN-AS1 | c.52907T>A (p.Val17636Glu) c.33992T>A (p.Val11331Glu) c.33791T>A (p.Val11264Glu) c.33416T>A (p.Val11139Glu) c.60611T>A (p.Val20204Glu) c.55688T>A (p.Val18563Glu) n.597-6482A>T n.3189-25A>T c.59708T>A (p.Val19903Glu) c.33602T>A (p.Val11201Glu) c.33461T>A (p.Val11154Glu) c.59504T>A (p.Val19835Glu) c.54902T>A (p.Val18301Glu) c.54899T>A (p.Val18300Glu) c.51941T>A (p.Val17314Glu) c.33557T>A (p.Val11186Glu) c.55052T>A (p.Val18351Glu) c.55049T>A (p.Val18350Glu) c.54482T>A (p.Val18161Glu) c.51824T>A (p.Val17275Glu) c.51743T>A (p.Val17248Glu) c.33506T>A (p.Val11169Glu) c.23360T>A (p.Val7787Glu) | |
2 | g.178591115C>A | CA349483589 | TTN,TTN-AS1 | c.52906G>T (p.Val17636Leu) c.33991G>T (p.Val11331Leu) c.33790G>T (p.Val11264Leu) c.33415G>T (p.Val11139Leu) c.60610G>T (p.Val20204Leu) c.55687G>T (p.Val18563Leu) n.597-6481C>A n.3189-24C>A c.59707G>T (p.Val19903Leu) c.33601G>T (p.Val11201Leu) c.33460G>T (p.Val11154Leu) c.59503G>T (p.Val19835Leu) c.54901G>T (p.Val18301Leu) c.54898G>T (p.Val18300Leu) c.51940G>T (p.Val17314Leu) c.33556G>T (p.Val11186Leu) c.55051G>T (p.Val18351Leu) c.55048G>T (p.Val18350Leu) c.54481G>T (p.Val18161Leu) c.51823G>T (p.Val17275Leu) c.51742G>T (p.Val17248Leu) c.33505G>T (p.Val11169Leu) c.23359G>T (p.Val7787Leu) | |
2 | g.178591115C>G | CA349483591 | TTN,TTN-AS1 | c.52906G>C (p.Val17636Leu) c.33991G>C (p.Val11331Leu) c.33790G>C (p.Val11264Leu) c.33415G>C (p.Val11139Leu) c.60610G>C (p.Val20204Leu) c.55687G>C (p.Val18563Leu) n.597-6481C>G n.3189-24C>G c.59707G>C (p.Val19903Leu) c.33601G>C (p.Val11201Leu) c.33460G>C (p.Val11154Leu) c.59503G>C (p.Val19835Leu) c.54901G>C (p.Val18301Leu) c.54898G>C (p.Val18300Leu) c.51940G>C (p.Val17314Leu) c.33556G>C (p.Val11186Leu) c.55051G>C (p.Val18351Leu) c.55048G>C (p.Val18350Leu) c.54481G>C (p.Val18161Leu) c.51823G>C (p.Val17275Leu) c.51742G>C (p.Val17248Leu) c.33505G>C (p.Val11169Leu) c.23359G>C (p.Val7787Leu) | |
2 | g.178591115C>T | CA349483593 | TTN,TTN-AS1 | c.52906G>A (p.Val17636Met) c.33991G>A (p.Val11331Met) c.33790G>A (p.Val11264Met) c.33415G>A (p.Val11139Met) c.60610G>A (p.Val20204Met) c.55687G>A (p.Val18563Met) n.597-6481C>T n.3189-24C>T c.59707G>A (p.Val19903Met) c.33601G>A (p.Val11201Met) c.33460G>A (p.Val11154Met) c.59503G>A (p.Val19835Met) c.54901G>A (p.Val18301Met) c.54898G>A (p.Val18300Met) c.51940G>A (p.Val17314Met) c.33556G>A (p.Val11186Met) c.55051G>A (p.Val18351Met) c.55048G>A (p.Val18350Met) c.54481G>A (p.Val18161Met) c.51823G>A (p.Val17275Met) c.51742G>A (p.Val17248Met) c.33505G>A (p.Val11169Met) c.23359G>A (p.Val7787Met) | |
2 | g.178591116A= | CA1310539832 | TTN,TTN-AS1 | c.52905T= (p.Pro17635=) c.33990T= (p.Pro11330=) c.33789T= (p.Pro11263=) c.33414T= (p.Pro11138=) c.60609T= (p.Pro20203=) c.55686T= (p.Pro18562=) n.597-6480A= n.3189-23A= c.59706T= (p.Pro19902=) c.33600T= (p.Pro11200=) c.33459T= (p.Pro11153=) c.59502T= (p.Pro19834=) c.54900T= (p.Pro18300=) c.54897T= (p.Pro18299=) c.51939T= (p.Pro17313=) c.33555T= (p.Pro11185=) c.55050T= (p.Pro18350=) c.55047T= (p.Pro18349=) c.54480T= (p.Pro18160=) c.51822T= (p.Pro17274=) c.51741T= (p.Pro17247=) c.33504T= (p.Pro11168=) c.23358T= (p.Pro7786=) | |
2 | g.178591116A>C | CA430266490 | TTN,TTN-AS1 | c.52905T>G (p.Pro17635=) c.33990T>G (p.Pro11330=) c.33789T>G (p.Pro11263=) c.33414T>G (p.Pro11138=) c.60609T>G (p.Pro20203=) c.55686T>G (p.Pro18562=) n.597-6480A>C n.3189-23A>C c.59706T>G (p.Pro19902=) c.33600T>G (p.Pro11200=) c.33459T>G (p.Pro11153=) c.59502T>G (p.Pro19834=) c.54900T>G (p.Pro18300=) c.54897T>G (p.Pro18299=) c.51939T>G (p.Pro17313=) c.33555T>G (p.Pro11185=) c.55050T>G (p.Pro18350=) c.55047T>G (p.Pro18349=) c.54480T>G (p.Pro18160=) c.51822T>G (p.Pro17274=) c.51741T>G (p.Pro17247=) c.33504T>G (p.Pro11168=) c.23358T>G (p.Pro7786=) | gnomAD v4 |
2 | g.178591116A>G | CA430266492 | TTN,TTN-AS1 | c.52905T>C (p.Pro17635=) c.33990T>C (p.Pro11330=) c.33789T>C (p.Pro11263=) c.33414T>C (p.Pro11138=) c.60609T>C (p.Pro20203=) c.55686T>C (p.Pro18562=) n.597-6480A>G n.3189-23A>G c.59706T>C (p.Pro19902=) c.33600T>C (p.Pro11200=) c.33459T>C (p.Pro11153=) c.59502T>C (p.Pro19834=) c.54900T>C (p.Pro18300=) c.54897T>C (p.Pro18299=) c.51939T>C (p.Pro17313=) c.33555T>C (p.Pro11185=) c.55050T>C (p.Pro18350=) c.55047T>C (p.Pro18349=) c.54480T>C (p.Pro18160=) c.51822T>C (p.Pro17274=) c.51741T>C (p.Pro17247=) c.33504T>C (p.Pro11168=) c.23358T>C (p.Pro7786=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178591116A>T | CA430266493 | TTN,TTN-AS1 | c.52905T>A (p.Pro17635=) c.33990T>A (p.Pro11330=) c.33789T>A (p.Pro11263=) c.33414T>A (p.Pro11138=) c.60609T>A (p.Pro20203=) c.55686T>A (p.Pro18562=) n.597-6480A>T n.3189-23A>T c.59706T>A (p.Pro19902=) c.33600T>A (p.Pro11200=) c.33459T>A (p.Pro11153=) c.59502T>A (p.Pro19834=) c.54900T>A (p.Pro18300=) c.54897T>A (p.Pro18299=) c.51939T>A (p.Pro17313=) c.33555T>A (p.Pro11185=) c.55050T>A (p.Pro18350=) c.55047T>A (p.Pro18349=) c.54480T>A (p.Pro18160=) c.51822T>A (p.Pro17274=) c.51741T>A (p.Pro17247=) c.33504T>A (p.Pro11168=) c.23358T>A (p.Pro7786=) | |
2 | g.178591117G>A | CA1992469 | TTN,TTN-AS1 | c.52904C>T (p.Pro17635Leu) c.33989C>T (p.Pro11330Leu) c.33788C>T (p.Pro11263Leu) c.33413C>T (p.Pro11138Leu) c.60608C>T (p.Pro20203Leu) c.55685C>T (p.Pro18562Leu) n.597-6479G>A n.3189-22G>A c.59705C>T (p.Pro19902Leu) c.33599C>T (p.Pro11200Leu) c.33458C>T (p.Pro11153Leu) c.59501C>T (p.Pro19834Leu) c.54899C>T (p.Pro18300Leu) c.54896C>T (p.Pro18299Leu) c.51938C>T (p.Pro17313Leu) c.33554C>T (p.Pro11185Leu) c.55049C>T (p.Pro18350Leu) c.55046C>T (p.Pro18349Leu) c.54479C>T (p.Pro18160Leu) c.51821C>T (p.Pro17274Leu) c.51740C>T (p.Pro17247Leu) c.33503C>T (p.Pro11168Leu) c.23357C>T (p.Pro7786Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178591117G>C | CA349483597 | TTN,TTN-AS1 | c.52904C>G (p.Pro17635Arg) c.33989C>G (p.Pro11330Arg) c.33788C>G (p.Pro11263Arg) c.33413C>G (p.Pro11138Arg) c.60608C>G (p.Pro20203Arg) c.55685C>G (p.Pro18562Arg) n.597-6479G>C n.3189-22G>C c.59705C>G (p.Pro19902Arg) c.33599C>G (p.Pro11200Arg) c.33458C>G (p.Pro11153Arg) c.59501C>G (p.Pro19834Arg) c.54899C>G (p.Pro18300Arg) c.54896C>G (p.Pro18299Arg) c.51938C>G (p.Pro17313Arg) c.33554C>G (p.Pro11185Arg) c.55049C>G (p.Pro18350Arg) c.55046C>G (p.Pro18349Arg) c.54479C>G (p.Pro18160Arg) c.51821C>G (p.Pro17274Arg) c.51740C>G (p.Pro17247Arg) c.33503C>G (p.Pro11168Arg) c.23357C>G (p.Pro7786Arg) | |
2 | g.178591117G= | CA1310539833 | TTN,TTN-AS1 | c.52904C= (p.Pro17635=) c.33989C= (p.Pro11330=) c.33788C= (p.Pro11263=) c.33413C= (p.Pro11138=) c.60608C= (p.Pro20203=) c.55685C= (p.Pro18562=) n.597-6479G= n.3189-22G= c.59705C= (p.Pro19902=) c.33599C= (p.Pro11200=) c.33458C= (p.Pro11153=) c.59501C= (p.Pro19834=) c.54899C= (p.Pro18300=) c.54896C= (p.Pro18299=) c.51938C= (p.Pro17313=) c.33554C= (p.Pro11185=) c.55049C= (p.Pro18350=) c.55046C= (p.Pro18349=) c.54479C= (p.Pro18160=) c.51821C= (p.Pro17274=) c.51740C= (p.Pro17247=) c.33503C= (p.Pro11168=) c.23357C= (p.Pro7786=) | |
2 | g.178591117G>T | CA349483594 | TTN,TTN-AS1 | c.52904C>A (p.Pro17635His) c.33989C>A (p.Pro11330His) c.33788C>A (p.Pro11263His) c.33413C>A (p.Pro11138His) c.60608C>A (p.Pro20203His) c.55685C>A (p.Pro18562His) n.597-6479G>T n.3189-22G>T c.59705C>A (p.Pro19902His) c.33599C>A (p.Pro11200His) c.33458C>A (p.Pro11153His) c.59501C>A (p.Pro19834His) c.54899C>A (p.Pro18300His) c.54896C>A (p.Pro18299His) c.51938C>A (p.Pro17313His) c.33554C>A (p.Pro11185His) c.55049C>A (p.Pro18350His) c.55046C>A (p.Pro18349His) c.54479C>A (p.Pro18160His) c.51821C>A (p.Pro17274His) c.51740C>A (p.Pro17247His) c.33503C>A (p.Pro11168His) c.23357C>A (p.Pro7786His) | |
2 | g.178591118G>A | CA1992470 | TTN,TTN-AS1 | c.52903C>T (p.Pro17635Ser) c.33988C>T (p.Pro11330Ser) c.33787C>T (p.Pro11263Ser) c.33412C>T (p.Pro11138Ser) c.60607C>T (p.Pro20203Ser) c.55684C>T (p.Pro18562Ser) n.597-6478G>A n.3189-21G>A c.59704C>T (p.Pro19902Ser) c.33598C>T (p.Pro11200Ser) c.33457C>T (p.Pro11153Ser) c.59500C>T (p.Pro19834Ser) c.54898C>T (p.Pro18300Ser) c.54895C>T (p.Pro18299Ser) c.51937C>T (p.Pro17313Ser) c.33553C>T (p.Pro11185Ser) c.55048C>T (p.Pro18350Ser) c.55045C>T (p.Pro18349Ser) c.54478C>T (p.Pro18160Ser) c.51820C>T (p.Pro17274Ser) c.51739C>T (p.Pro17247Ser) c.33502C>T (p.Pro11168Ser) c.23356C>T (p.Pro7786Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591118G>C | CA349483600 | TTN,TTN-AS1 | c.52903C>G (p.Pro17635Ala) c.33988C>G (p.Pro11330Ala) c.33787C>G (p.Pro11263Ala) c.33412C>G (p.Pro11138Ala) c.60607C>G (p.Pro20203Ala) c.55684C>G (p.Pro18562Ala) n.597-6478G>C n.3189-21G>C c.59704C>G (p.Pro19902Ala) c.33598C>G (p.Pro11200Ala) c.33457C>G (p.Pro11153Ala) c.59500C>G (p.Pro19834Ala) c.54898C>G (p.Pro18300Ala) c.54895C>G (p.Pro18299Ala) c.51937C>G (p.Pro17313Ala) c.33553C>G (p.Pro11185Ala) c.55048C>G (p.Pro18350Ala) c.55045C>G (p.Pro18349Ala) c.54478C>G (p.Pro18160Ala) c.51820C>G (p.Pro17274Ala) c.51739C>G (p.Pro17247Ala) c.33502C>G (p.Pro11168Ala) c.23356C>G (p.Pro7786Ala) | gnomAD v4 |
2 | g.178591118G= | CA1310539835 | TTN,TTN-AS1 | c.52903C= (p.Pro17635=) c.33988C= (p.Pro11330=) c.33787C= (p.Pro11263=) c.33412C= (p.Pro11138=) c.60607C= (p.Pro20203=) c.55684C= (p.Pro18562=) n.597-6478G= n.3189-21G= c.59704C= (p.Pro19902=) c.33598C= (p.Pro11200=) c.33457C= (p.Pro11153=) c.59500C= (p.Pro19834=) c.54898C= (p.Pro18300=) c.54895C= (p.Pro18299=) c.51937C= (p.Pro17313=) c.33553C= (p.Pro11185=) c.55048C= (p.Pro18350=) c.55045C= (p.Pro18349=) c.54478C= (p.Pro18160=) c.51820C= (p.Pro17274=) c.51739C= (p.Pro17247=) c.33502C= (p.Pro11168=) c.23356C= (p.Pro7786=) | |
2 | g.178591118G>T | CA349483604 | TTN,TTN-AS1 | c.52903C>A (p.Pro17635Thr) c.33988C>A (p.Pro11330Thr) c.33787C>A (p.Pro11263Thr) c.33412C>A (p.Pro11138Thr) c.60607C>A (p.Pro20203Thr) c.55684C>A (p.Pro18562Thr) n.597-6478G>T n.3189-21G>T c.59704C>A (p.Pro19902Thr) c.33598C>A (p.Pro11200Thr) c.33457C>A (p.Pro11153Thr) c.59500C>A (p.Pro19834Thr) c.54898C>A (p.Pro18300Thr) c.54895C>A (p.Pro18299Thr) c.51937C>A (p.Pro17313Thr) c.33553C>A (p.Pro11185Thr) c.55048C>A (p.Pro18350Thr) c.55045C>A (p.Pro18349Thr) c.54478C>A (p.Pro18160Thr) c.51820C>A (p.Pro17274Thr) c.51739C>A (p.Pro17247Thr) c.33502C>A (p.Pro11168Thr) c.23356C>A (p.Pro7786Thr) | |
2 | g.178591119G>A | CA430266496 | TTN,TTN-AS1 | c.52902C>T (p.Ser17634=) c.33987C>T (p.Ser11329=) c.33786C>T (p.Ser11262=) c.33411C>T (p.Ser11137=) c.60606C>T (p.Ser20202=) c.55683C>T (p.Ser18561=) n.597-6477G>A n.3189-20G>A c.59703C>T (p.Ser19901=) c.33597C>T (p.Ser11199=) c.33456C>T (p.Ser11152=) c.59499C>T (p.Ser19833=) c.54897C>T (p.Ser18299=) c.54894C>T (p.Ser18298=) c.51936C>T (p.Ser17312=) c.33552C>T (p.Ser11184=) c.55047C>T (p.Ser18349=) c.55044C>T (p.Ser18348=) c.54477C>T (p.Ser18159=) c.51819C>T (p.Ser17273=) c.51738C>T (p.Ser17246=) c.33501C>T (p.Ser11167=) c.23355C>T (p.Ser7785=) | |
2 | g.178591119G>C | CA310179 | TTN,TTN-AS1 | c.52902C>G (p.Ser17634Arg) c.33987C>G (p.Ser11329Arg) c.33786C>G (p.Ser11262Arg) c.33411C>G (p.Ser11137Arg) c.60606C>G (p.Ser20202Arg) c.55683C>G (p.Ser18561Arg) n.597-6477G>C n.3189-20G>C c.59703C>G (p.Ser19901Arg) c.33597C>G (p.Ser11199Arg) c.33456C>G (p.Ser11152Arg) c.59499C>G (p.Ser19833Arg) c.54897C>G (p.Ser18299Arg) c.54894C>G (p.Ser18298Arg) c.51936C>G (p.Ser17312Arg) c.33552C>G (p.Ser11184Arg) c.55047C>G (p.Ser18349Arg) c.55044C>G (p.Ser18348Arg) c.54477C>G (p.Ser18159Arg) c.51819C>G (p.Ser17273Arg) c.51738C>G (p.Ser17246Arg) c.33501C>G (p.Ser11167Arg) c.23355C>G (p.Ser7785Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591119G= | CA1310539836 | TTN,TTN-AS1 | c.52902C= (p.Ser17634=) c.33987C= (p.Ser11329=) c.33786C= (p.Ser11262=) c.33411C= (p.Ser11137=) c.60606C= (p.Ser20202=) c.55683C= (p.Ser18561=) n.597-6477G= n.3189-20G= c.59703C= (p.Ser19901=) c.33597C= (p.Ser11199=) c.33456C= (p.Ser11152=) c.59499C= (p.Ser19833=) c.54897C= (p.Ser18299=) c.54894C= (p.Ser18298=) c.51936C= (p.Ser17312=) c.33552C= (p.Ser11184=) c.55047C= (p.Ser18349=) c.55044C= (p.Ser18348=) c.54477C= (p.Ser18159=) c.51819C= (p.Ser17273=) c.51738C= (p.Ser17246=) c.33501C= (p.Ser11167=) c.23355C= (p.Ser7785=) | |
2 | g.178591119G>T | CA349483610 | TTN,TTN-AS1 | c.52902C>A (p.Ser17634Arg) c.33987C>A (p.Ser11329Arg) c.33786C>A (p.Ser11262Arg) c.33411C>A (p.Ser11137Arg) c.60606C>A (p.Ser20202Arg) c.55683C>A (p.Ser18561Arg) n.597-6477G>T n.3189-20G>T c.59703C>A (p.Ser19901Arg) c.33597C>A (p.Ser11199Arg) c.33456C>A (p.Ser11152Arg) c.59499C>A (p.Ser19833Arg) c.54897C>A (p.Ser18299Arg) c.54894C>A (p.Ser18298Arg) c.51936C>A (p.Ser17312Arg) c.33552C>A (p.Ser11184Arg) c.55047C>A (p.Ser18349Arg) c.55044C>A (p.Ser18348Arg) c.54477C>A (p.Ser18159Arg) c.51819C>A (p.Ser17273Arg) c.51738C>A (p.Ser17246Arg) c.33501C>A (p.Ser11167Arg) c.23355C>A (p.Ser7785Arg) | |
2 | g.178591120C>A | CA349483612 | TTN,TTN-AS1 | c.52901G>T (p.Ser17634Ile) c.33986G>T (p.Ser11329Ile) c.33785G>T (p.Ser11262Ile) c.33410G>T (p.Ser11137Ile) c.60605G>T (p.Ser20202Ile) c.55682G>T (p.Ser18561Ile) n.597-6476C>A n.3189-19C>A c.59702G>T (p.Ser19901Ile) c.33596G>T (p.Ser11199Ile) c.33455G>T (p.Ser11152Ile) c.59498G>T (p.Ser19833Ile) c.54896G>T (p.Ser18299Ile) c.54893G>T (p.Ser18298Ile) c.51935G>T (p.Ser17312Ile) c.33551G>T (p.Ser11184Ile) c.55046G>T (p.Ser18349Ile) c.55043G>T (p.Ser18348Ile) c.54476G>T (p.Ser18159Ile) c.51818G>T (p.Ser17273Ile) c.51737G>T (p.Ser17246Ile) c.33500G>T (p.Ser11167Ile) c.23354G>T (p.Ser7785Ile) | |
2 | g.178591120C>G | CA349483613 | TTN,TTN-AS1 | c.52901G>C (p.Ser17634Thr) c.33986G>C (p.Ser11329Thr) c.33785G>C (p.Ser11262Thr) c.33410G>C (p.Ser11137Thr) c.60605G>C (p.Ser20202Thr) c.55682G>C (p.Ser18561Thr) n.597-6476C>G n.3189-19C>G c.59702G>C (p.Ser19901Thr) c.33596G>C (p.Ser11199Thr) c.33455G>C (p.Ser11152Thr) c.59498G>C (p.Ser19833Thr) c.54896G>C (p.Ser18299Thr) c.54893G>C (p.Ser18298Thr) c.51935G>C (p.Ser17312Thr) c.33551G>C (p.Ser11184Thr) c.55046G>C (p.Ser18349Thr) c.55043G>C (p.Ser18348Thr) c.54476G>C (p.Ser18159Thr) c.51818G>C (p.Ser17273Thr) c.51737G>C (p.Ser17246Thr) c.33500G>C (p.Ser11167Thr) c.23354G>C (p.Ser7785Thr) |