Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530316_178530319delinsTGAA | CA1310514512 | TTN,TTN-AS1 | c.98592_98595delinsTTCA (p.Ser32864=) c.79677_79680delinsTTCA (p.Ser26559=) c.79476_79479delinsTTCA (p.Ser26492=) c.79101_79104delinsTTCA (p.Ser26367=) c.106296_106299delinsTTCA (p.Ser35432=) c.101373_101376delinsTTCA (p.Ser33791=) n.446+6680_446+6683delinsTGAA n.220-5416_220-5413delinsTGAA c.105393_105396delinsTTCA (p.Ser35131=) c.79287_79290delinsTTCA (p.Ser26429=) c.79146_79149delinsTTCA (p.Ser26382=) c.105189_105192delinsTTCA (p.Ser35063=) c.100587_100590delinsTTCA (p.Ser33529=) c.100584_100587delinsTTCA (p.Ser33528=) c.97626_97629delinsTTCA (p.Ser32542=) c.79242_79245delinsTTCA (p.Ser26414=) c.100737_100740delinsTTCA (p.Ser33579=) c.100734_100737delinsTTCA (p.Ser33578=) c.100167_100170delinsTTCA (p.Ser33389=) c.97509_97512delinsTTCA (p.Ser32503=) c.97428_97431delinsTTCA (p.Ser32476=) c.79191_79194delinsTTCA (p.Ser26397=) c.69045_69048delinsTTCA (p.Ser23015=) | |
2 | g.178530320_178530322del | CA538434976 | TTN,TTN-AS1 | c.98592_98594del (p.Ser32865del) c.79677_79679del (p.Ser26560del) c.79476_79478del (p.Ser26493del) c.79101_79103del (p.Ser26368del) c.106296_106298del (p.Ser35433del) c.101373_101375del (p.Ser33792del) n.446+6684_446+6686del n.220-5412_220-5410del c.105393_105395del (p.Ser35132del) c.79287_79289del (p.Ser26430del) c.79146_79148del (p.Ser26383del) c.105189_105191del (p.Ser35064del) c.100587_100589del (p.Ser33530del) c.100584_100586del (p.Ser33529del) c.97626_97628del (p.Ser32543del) c.79242_79244del (p.Ser26415del) c.100737_100739del (p.Ser33580del) c.100734_100736del (p.Ser33579del) c.100167_100169del (p.Ser33390del) c.97509_97511del (p.Ser32504del) c.97428_97430del (p.Ser32477del) c.79191_79193del (p.Ser26398del) c.69045_69047del (p.Ser23016del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530319A>C | CA430235129 | TTN,TTN-AS1 | c.98592T>G (p.Ser32864=) c.79677T>G (p.Ser26559=) c.79476T>G (p.Ser26492=) c.79101T>G (p.Ser26367=) c.106296T>G (p.Ser35432=) c.101373T>G (p.Ser33791=) n.446+6683A>C n.220-5413A>C c.105393T>G (p.Ser35131=) c.79287T>G (p.Ser26429=) c.79146T>G (p.Ser26382=) c.105189T>G (p.Ser35063=) c.100587T>G (p.Ser33529=) c.100584T>G (p.Ser33528=) c.97626T>G (p.Ser32542=) c.79242T>G (p.Ser26414=) c.100737T>G (p.Ser33579=) c.100734T>G (p.Ser33578=) c.100167T>G (p.Ser33389=) c.97509T>G (p.Ser32503=) c.97428T>G (p.Ser32476=) c.79191T>G (p.Ser26397=) c.69045T>G (p.Ser23015=) | |
2 | g.178530319A>G | CA430235131 | TTN,TTN-AS1 | c.98592T>C (p.Ser32864=) c.79677T>C (p.Ser26559=) c.79476T>C (p.Ser26492=) c.79101T>C (p.Ser26367=) c.106296T>C (p.Ser35432=) c.101373T>C (p.Ser33791=) n.446+6683A>G n.220-5413A>G c.105393T>C (p.Ser35131=) c.79287T>C (p.Ser26429=) c.79146T>C (p.Ser26382=) c.105189T>C (p.Ser35063=) c.100587T>C (p.Ser33529=) c.100584T>C (p.Ser33528=) c.97626T>C (p.Ser32542=) c.79242T>C (p.Ser26414=) c.100737T>C (p.Ser33579=) c.100734T>C (p.Ser33578=) c.100167T>C (p.Ser33389=) c.97509T>C (p.Ser32503=) c.97428T>C (p.Ser32476=) c.79191T>C (p.Ser26397=) c.69045T>C (p.Ser23015=) | ClinVar |
2 | g.178530319A>T | CA430235132 | TTN,TTN-AS1 | c.98592T>A (p.Ser32864=) c.79677T>A (p.Ser26559=) c.79476T>A (p.Ser26492=) c.79101T>A (p.Ser26367=) c.106296T>A (p.Ser35432=) c.101373T>A (p.Ser33791=) n.446+6683A>T n.220-5413A>T c.105393T>A (p.Ser35131=) c.79287T>A (p.Ser26429=) c.79146T>A (p.Ser26382=) c.105189T>A (p.Ser35063=) c.100587T>A (p.Ser33529=) c.100584T>A (p.Ser33528=) c.97626T>A (p.Ser32542=) c.79242T>A (p.Ser26414=) c.100737T>A (p.Ser33579=) c.100734T>A (p.Ser33578=) c.100167T>A (p.Ser33389=) c.97509T>A (p.Ser32503=) c.97428T>A (p.Ser32476=) c.79191T>A (p.Ser26397=) c.69045T>A (p.Ser23015=) | |
2 | g.178530320G>A | CA349406274 | TTN,TTN-AS1 | c.98591C>T (p.Ser32864Phe) c.79676C>T (p.Ser26559Phe) c.79475C>T (p.Ser26492Phe) c.79100C>T (p.Ser26367Phe) c.106295C>T (p.Ser35432Phe) c.101372C>T (p.Ser33791Phe) n.446+6684G>A n.220-5412G>A c.105392C>T (p.Ser35131Phe) c.79286C>T (p.Ser26429Phe) c.79145C>T (p.Ser26382Phe) c.105188C>T (p.Ser35063Phe) c.100586C>T (p.Ser33529Phe) c.100583C>T (p.Ser33528Phe) c.97625C>T (p.Ser32542Phe) c.79241C>T (p.Ser26414Phe) c.100736C>T (p.Ser33579Phe) c.100733C>T (p.Ser33578Phe) c.100166C>T (p.Ser33389Phe) c.97508C>T (p.Ser32503Phe) c.97427C>T (p.Ser32476Phe) c.79190C>T (p.Ser26397Phe) c.69044C>T (p.Ser23015Phe) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530320G>C | CA349406272 | TTN,TTN-AS1 | c.98591C>G (p.Ser32864Cys) c.79676C>G (p.Ser26559Cys) c.79475C>G (p.Ser26492Cys) c.79100C>G (p.Ser26367Cys) c.106295C>G (p.Ser35432Cys) c.101372C>G (p.Ser33791Cys) n.446+6684G>C n.220-5412G>C c.105392C>G (p.Ser35131Cys) c.79286C>G (p.Ser26429Cys) c.79145C>G (p.Ser26382Cys) c.105188C>G (p.Ser35063Cys) c.100586C>G (p.Ser33529Cys) c.100583C>G (p.Ser33528Cys) c.97625C>G (p.Ser32542Cys) c.79241C>G (p.Ser26414Cys) c.100736C>G (p.Ser33579Cys) c.100733C>G (p.Ser33578Cys) c.100166C>G (p.Ser33389Cys) c.97508C>G (p.Ser32503Cys) c.97427C>G (p.Ser32476Cys) c.79190C>G (p.Ser26397Cys) c.69044C>G (p.Ser23015Cys) | |
2 | g.178530320G= | CA1310514513 | TTN,TTN-AS1 | c.98591C= (p.Ser32864=) c.79676C= (p.Ser26559=) c.79475C= (p.Ser26492=) c.79100C= (p.Ser26367=) c.106295C= (p.Ser35432=) c.101372C= (p.Ser33791=) n.446+6684G= n.220-5412G= c.105392C= (p.Ser35131=) c.79286C= (p.Ser26429=) c.79145C= (p.Ser26382=) c.105188C= (p.Ser35063=) c.100586C= (p.Ser33529=) c.100583C= (p.Ser33528=) c.97625C= (p.Ser32542=) c.79241C= (p.Ser26414=) c.100736C= (p.Ser33579=) c.100733C= (p.Ser33578=) c.100166C= (p.Ser33389=) c.97508C= (p.Ser32503=) c.97427C= (p.Ser32476=) c.79190C= (p.Ser26397=) c.69044C= (p.Ser23015=) | |
2 | g.178530320G>T | CA1985133 | TTN,TTN-AS1 | c.98591C>A (p.Ser32864Tyr) c.79676C>A (p.Ser26559Tyr) c.79475C>A (p.Ser26492Tyr) c.79100C>A (p.Ser26367Tyr) c.106295C>A (p.Ser35432Tyr) c.101372C>A (p.Ser33791Tyr) n.446+6684G>T n.220-5412G>T c.105392C>A (p.Ser35131Tyr) c.79286C>A (p.Ser26429Tyr) c.79145C>A (p.Ser26382Tyr) c.105188C>A (p.Ser35063Tyr) c.100586C>A (p.Ser33529Tyr) c.100583C>A (p.Ser33528Tyr) c.97625C>A (p.Ser32542Tyr) c.79241C>A (p.Ser26414Tyr) c.100736C>A (p.Ser33579Tyr) c.100733C>A (p.Ser33578Tyr) c.100166C>A (p.Ser33389Tyr) c.97508C>A (p.Ser32503Tyr) c.97427C>A (p.Ser32476Tyr) c.79190C>A (p.Ser26397Tyr) c.69044C>A (p.Ser23015Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530321A>C | CA349406277 | TTN,TTN-AS1 | c.98590T>G (p.Ser32864Ala) c.79675T>G (p.Ser26559Ala) c.79474T>G (p.Ser26492Ala) c.79099T>G (p.Ser26367Ala) c.106294T>G (p.Ser35432Ala) c.101371T>G (p.Ser33791Ala) n.446+6685A>C n.220-5411A>C c.105391T>G (p.Ser35131Ala) c.79285T>G (p.Ser26429Ala) c.79144T>G (p.Ser26382Ala) c.105187T>G (p.Ser35063Ala) c.100585T>G (p.Ser33529Ala) c.100582T>G (p.Ser33528Ala) c.97624T>G (p.Ser32542Ala) c.79240T>G (p.Ser26414Ala) c.100735T>G (p.Ser33579Ala) c.100732T>G (p.Ser33578Ala) c.100165T>G (p.Ser33389Ala) c.97507T>G (p.Ser32503Ala) c.97426T>G (p.Ser32476Ala) c.79189T>G (p.Ser26397Ala) c.69043T>G (p.Ser23015Ala) | |
2 | g.178530321A>G | CA349406280 | TTN,TTN-AS1 | c.98590T>C (p.Ser32864Pro) c.79675T>C (p.Ser26559Pro) c.79474T>C (p.Ser26492Pro) c.79099T>C (p.Ser26367Pro) c.106294T>C (p.Ser35432Pro) c.101371T>C (p.Ser33791Pro) n.446+6685A>G n.220-5411A>G c.105391T>C (p.Ser35131Pro) c.79285T>C (p.Ser26429Pro) c.79144T>C (p.Ser26382Pro) c.105187T>C (p.Ser35063Pro) c.100585T>C (p.Ser33529Pro) c.100582T>C (p.Ser33528Pro) c.97624T>C (p.Ser32542Pro) c.79240T>C (p.Ser26414Pro) c.100735T>C (p.Ser33579Pro) c.100732T>C (p.Ser33578Pro) c.100165T>C (p.Ser33389Pro) c.97507T>C (p.Ser32503Pro) c.97426T>C (p.Ser32476Pro) c.79189T>C (p.Ser26397Pro) c.69043T>C (p.Ser23015Pro) | |
2 | g.178530321A>T | CA349406281 | TTN,TTN-AS1 | c.98590T>A (p.Ser32864Thr) c.79675T>A (p.Ser26559Thr) c.79474T>A (p.Ser26492Thr) c.79099T>A (p.Ser26367Thr) c.106294T>A (p.Ser35432Thr) c.101371T>A (p.Ser33791Thr) n.446+6685A>T n.220-5411A>T c.105391T>A (p.Ser35131Thr) c.79285T>A (p.Ser26429Thr) c.79144T>A (p.Ser26382Thr) c.105187T>A (p.Ser35063Thr) c.100585T>A (p.Ser33529Thr) c.100582T>A (p.Ser33528Thr) c.97624T>A (p.Ser32542Thr) c.79240T>A (p.Ser26414Thr) c.100735T>A (p.Ser33579Thr) c.100732T>A (p.Ser33578Thr) c.100165T>A (p.Ser33389Thr) c.97507T>A (p.Ser32503Thr) c.97426T>A (p.Ser32476Thr) c.79189T>A (p.Ser26397Thr) c.69043T>A (p.Ser23015Thr) | |
2 | g.178530322A= | CA1310514514 | TTN,TTN-AS1 | c.98589T= (p.Val32863=) c.79674T= (p.Val26558=) c.79473T= (p.Val26491=) c.79098T= (p.Val26366=) c.106293T= (p.Val35431=) c.101370T= (p.Val33790=) n.446+6686A= n.220-5410A= c.105390T= (p.Val35130=) c.79284T= (p.Val26428=) c.79143T= (p.Val26381=) c.105186T= (p.Val35062=) c.100584T= (p.Val33528=) c.100581T= (p.Val33527=) c.97623T= (p.Val32541=) c.79239T= (p.Val26413=) c.100734T= (p.Val33578=) c.100731T= (p.Val33577=) c.100164T= (p.Val33388=) c.97506T= (p.Val32502=) c.97425T= (p.Val32475=) c.79188T= (p.Val26396=) c.69042T= (p.Val23014=) | |
2 | g.178530322A>C | CA430235137 | TTN,TTN-AS1 | c.98589T>G (p.Val32863=) c.79674T>G (p.Val26558=) c.79473T>G (p.Val26491=) c.79098T>G (p.Val26366=) c.106293T>G (p.Val35431=) c.101370T>G (p.Val33790=) n.446+6686A>C n.220-5410A>C c.105390T>G (p.Val35130=) c.79284T>G (p.Val26428=) c.79143T>G (p.Val26381=) c.105186T>G (p.Val35062=) c.100584T>G (p.Val33528=) c.100581T>G (p.Val33527=) c.97623T>G (p.Val32541=) c.79239T>G (p.Val26413=) c.100734T>G (p.Val33578=) c.100731T>G (p.Val33577=) c.100164T>G (p.Val33388=) c.97506T>G (p.Val32502=) c.97425T>G (p.Val32475=) c.79188T>G (p.Val26396=) c.69042T>G (p.Val23014=) | |
2 | g.178530322A>G | CA1985134 | TTN,TTN-AS1 | c.98589T>C (p.Val32863=) c.79674T>C (p.Val26558=) c.79473T>C (p.Val26491=) c.79098T>C (p.Val26366=) c.106293T>C (p.Val35431=) c.101370T>C (p.Val33790=) n.446+6686A>G n.220-5410A>G c.105390T>C (p.Val35130=) c.79284T>C (p.Val26428=) c.79143T>C (p.Val26381=) c.105186T>C (p.Val35062=) c.100584T>C (p.Val33528=) c.100581T>C (p.Val33527=) c.97623T>C (p.Val32541=) c.79239T>C (p.Val26413=) c.100734T>C (p.Val33578=) c.100731T>C (p.Val33577=) c.100164T>C (p.Val33388=) c.97506T>C (p.Val32502=) c.97425T>C (p.Val32475=) c.79188T>C (p.Val26396=) c.69042T>C (p.Val23014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530322A>T | CA430235140 | TTN,TTN-AS1 | c.98589T>A (p.Val32863=) c.79674T>A (p.Val26558=) c.79473T>A (p.Val26491=) c.79098T>A (p.Val26366=) c.106293T>A (p.Val35431=) c.101370T>A (p.Val33790=) n.446+6686A>T n.220-5410A>T c.105390T>A (p.Val35130=) c.79284T>A (p.Val26428=) c.79143T>A (p.Val26381=) c.105186T>A (p.Val35062=) c.100584T>A (p.Val33528=) c.100581T>A (p.Val33527=) c.97623T>A (p.Val32541=) c.79239T>A (p.Val26413=) c.100734T>A (p.Val33578=) c.100731T>A (p.Val33577=) c.100164T>A (p.Val33388=) c.97506T>A (p.Val32502=) c.97425T>A (p.Val32475=) c.79188T>A (p.Val26396=) c.69042T>A (p.Val23014=) | |
2 | g.178530323A= | CA1310514515 | TTN,TTN-AS1 | c.98588T= (p.Val32863=) c.79673T= (p.Val26558=) c.79472T= (p.Val26491=) c.79097T= (p.Val26366=) c.106292T= (p.Val35431=) c.101369T= (p.Val33790=) n.446+6687A= n.220-5409A= c.105389T= (p.Val35130=) c.79283T= (p.Val26428=) c.79142T= (p.Val26381=) c.105185T= (p.Val35062=) c.100583T= (p.Val33528=) c.100580T= (p.Val33527=) c.97622T= (p.Val32541=) c.79238T= (p.Val26413=) c.100733T= (p.Val33578=) c.100730T= (p.Val33577=) c.100163T= (p.Val33388=) c.97505T= (p.Val32502=) c.97424T= (p.Val32475=) c.79187T= (p.Val26396=) c.69041T= (p.Val23014=) | |
2 | g.178530323A>C | CA349406287 | TTN,TTN-AS1 | c.98588T>G (p.Val32863Gly) c.79673T>G (p.Val26558Gly) c.79472T>G (p.Val26491Gly) c.79097T>G (p.Val26366Gly) c.106292T>G (p.Val35431Gly) c.101369T>G (p.Val33790Gly) n.446+6687A>C n.220-5409A>C c.105389T>G (p.Val35130Gly) c.79283T>G (p.Val26428Gly) c.79142T>G (p.Val26381Gly) c.105185T>G (p.Val35062Gly) c.100583T>G (p.Val33528Gly) c.100580T>G (p.Val33527Gly) c.97622T>G (p.Val32541Gly) c.79238T>G (p.Val26413Gly) c.100733T>G (p.Val33578Gly) c.100730T>G (p.Val33577Gly) c.100163T>G (p.Val33388Gly) c.97505T>G (p.Val32502Gly) c.97424T>G (p.Val32475Gly) c.79187T>G (p.Val26396Gly) c.69041T>G (p.Val23014Gly) | |
2 | g.178530323A>G | CA1985135 | TTN,TTN-AS1 | c.98588T>C (p.Val32863Ala) c.79673T>C (p.Val26558Ala) c.79472T>C (p.Val26491Ala) c.79097T>C (p.Val26366Ala) c.106292T>C (p.Val35431Ala) c.101369T>C (p.Val33790Ala) n.446+6687A>G n.220-5409A>G c.105389T>C (p.Val35130Ala) c.79283T>C (p.Val26428Ala) c.79142T>C (p.Val26381Ala) c.105185T>C (p.Val35062Ala) c.100583T>C (p.Val33528Ala) c.100580T>C (p.Val33527Ala) c.97622T>C (p.Val32541Ala) c.79238T>C (p.Val26413Ala) c.100733T>C (p.Val33578Ala) c.100730T>C (p.Val33577Ala) c.100163T>C (p.Val33388Ala) c.97505T>C (p.Val32502Ala) c.97424T>C (p.Val32475Ala) c.79187T>C (p.Val26396Ala) c.69041T>C (p.Val23014Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530323A>T | CA349406291 | TTN,TTN-AS1 | c.98588T>A (p.Val32863Asp) c.79673T>A (p.Val26558Asp) c.79472T>A (p.Val26491Asp) c.79097T>A (p.Val26366Asp) c.106292T>A (p.Val35431Asp) c.101369T>A (p.Val33790Asp) n.446+6687A>T n.220-5409A>T c.105389T>A (p.Val35130Asp) c.79283T>A (p.Val26428Asp) c.79142T>A (p.Val26381Asp) c.105185T>A (p.Val35062Asp) c.100583T>A (p.Val33528Asp) c.100580T>A (p.Val33527Asp) c.97622T>A (p.Val32541Asp) c.79238T>A (p.Val26413Asp) c.100733T>A (p.Val33578Asp) c.100730T>A (p.Val33577Asp) c.100163T>A (p.Val33388Asp) c.97505T>A (p.Val32502Asp) c.97424T>A (p.Val32475Asp) c.79187T>A (p.Val26396Asp) c.69041T>A (p.Val23014Asp) | |
2 | g.178530324C>A | CA349406294 | TTN,TTN-AS1 | c.98587G>T (p.Val32863Phe) c.79672G>T (p.Val26558Phe) c.79471G>T (p.Val26491Phe) c.79096G>T (p.Val26366Phe) c.106291G>T (p.Val35431Phe) c.101368G>T (p.Val33790Phe) n.446+6688C>A n.220-5408C>A c.105388G>T (p.Val35130Phe) c.79282G>T (p.Val26428Phe) c.79141G>T (p.Val26381Phe) c.105184G>T (p.Val35062Phe) c.100582G>T (p.Val33528Phe) c.100579G>T (p.Val33527Phe) c.97621G>T (p.Val32541Phe) c.79237G>T (p.Val26413Phe) c.100732G>T (p.Val33578Phe) c.100729G>T (p.Val33577Phe) c.100162G>T (p.Val33388Phe) c.97504G>T (p.Val32502Phe) c.97423G>T (p.Val32475Phe) c.79186G>T (p.Val26396Phe) c.69040G>T (p.Val23014Phe) | |
2 | g.178530324C= | CA1310514516 | TTN,TTN-AS1 | c.98587G= (p.Val32863=) c.79672G= (p.Val26558=) c.79471G= (p.Val26491=) c.79096G= (p.Val26366=) c.106291G= (p.Val35431=) c.101368G= (p.Val33790=) n.446+6688C= n.220-5408C= c.105388G= (p.Val35130=) c.79282G= (p.Val26428=) c.79141G= (p.Val26381=) c.105184G= (p.Val35062=) c.100582G= (p.Val33528=) c.100579G= (p.Val33527=) c.97621G= (p.Val32541=) c.79237G= (p.Val26413=) c.100732G= (p.Val33578=) c.100729G= (p.Val33577=) c.100162G= (p.Val33388=) c.97504G= (p.Val32502=) c.97423G= (p.Val32475=) c.79186G= (p.Val26396=) c.69040G= (p.Val23014=) | |
2 | g.178530324C>G | CA1985136 | TTN,TTN-AS1 | c.98587G>C (p.Val32863Leu) c.79672G>C (p.Val26558Leu) c.79471G>C (p.Val26491Leu) c.79096G>C (p.Val26366Leu) c.106291G>C (p.Val35431Leu) c.101368G>C (p.Val33790Leu) n.446+6688C>G n.220-5408C>G c.105388G>C (p.Val35130Leu) c.79282G>C (p.Val26428Leu) c.79141G>C (p.Val26381Leu) c.105184G>C (p.Val35062Leu) c.100582G>C (p.Val33528Leu) c.100579G>C (p.Val33527Leu) c.97621G>C (p.Val32541Leu) c.79237G>C (p.Val26413Leu) c.100732G>C (p.Val33578Leu) c.100729G>C (p.Val33577Leu) c.100162G>C (p.Val33388Leu) c.97504G>C (p.Val32502Leu) c.97423G>C (p.Val32475Leu) c.79186G>C (p.Val26396Leu) c.69040G>C (p.Val23014Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530324C>T | CA349406295 | TTN,TTN-AS1 | c.98587G>A (p.Val32863Ile) c.79672G>A (p.Val26558Ile) c.79471G>A (p.Val26491Ile) c.79096G>A (p.Val26366Ile) c.106291G>A (p.Val35431Ile) c.101368G>A (p.Val33790Ile) n.446+6688C>T n.220-5408C>T c.105388G>A (p.Val35130Ile) c.79282G>A (p.Val26428Ile) c.79141G>A (p.Val26381Ile) c.105184G>A (p.Val35062Ile) c.100582G>A (p.Val33528Ile) c.100579G>A (p.Val33527Ile) c.97621G>A (p.Val32541Ile) c.79237G>A (p.Val26413Ile) c.100732G>A (p.Val33578Ile) c.100729G>A (p.Val33577Ile) c.100162G>A (p.Val33388Ile) c.97504G>A (p.Val32502Ile) c.97423G>A (p.Val32475Ile) c.79186G>A (p.Val26396Ile) c.69040G>A (p.Val23014Ile) | |
2 | g.178530325A>C | CA430235144 | TTN,TTN-AS1 | c.98586T>G (p.Thr32862=) c.79671T>G (p.Thr26557=) c.79470T>G (p.Thr26490=) c.79095T>G (p.Thr26365=) c.106290T>G (p.Thr35430=) c.101367T>G (p.Thr33789=) n.446+6689A>C n.220-5407A>C c.105387T>G (p.Thr35129=) c.79281T>G (p.Thr26427=) c.79140T>G (p.Thr26380=) c.105183T>G (p.Thr35061=) c.100581T>G (p.Thr33527=) c.100578T>G (p.Thr33526=) c.97620T>G (p.Thr32540=) c.79236T>G (p.Thr26412=) c.100731T>G (p.Thr33577=) c.100728T>G (p.Thr33576=) c.100161T>G (p.Thr33387=) c.97503T>G (p.Thr32501=) c.97422T>G (p.Thr32474=) c.79185T>G (p.Thr26395=) c.69039T>G (p.Thr23013=) | |
2 | g.178530325A>G | CA430235145 | TTN,TTN-AS1 | c.98586T>C (p.Thr32862=) c.79671T>C (p.Thr26557=) c.79470T>C (p.Thr26490=) c.79095T>C (p.Thr26365=) c.106290T>C (p.Thr35430=) c.101367T>C (p.Thr33789=) n.446+6689A>G n.220-5407A>G c.105387T>C (p.Thr35129=) c.79281T>C (p.Thr26427=) c.79140T>C (p.Thr26380=) c.105183T>C (p.Thr35061=) c.100581T>C (p.Thr33527=) c.100578T>C (p.Thr33526=) c.97620T>C (p.Thr32540=) c.79236T>C (p.Thr26412=) c.100731T>C (p.Thr33577=) c.100728T>C (p.Thr33576=) c.100161T>C (p.Thr33387=) c.97503T>C (p.Thr32501=) c.97422T>C (p.Thr32474=) c.79185T>C (p.Thr26395=) c.69039T>C (p.Thr23013=) | |
2 | g.178530325A>T | CA430235142 | TTN,TTN-AS1 | c.98586T>A (p.Thr32862=) c.79671T>A (p.Thr26557=) c.79470T>A (p.Thr26490=) c.79095T>A (p.Thr26365=) c.106290T>A (p.Thr35430=) c.101367T>A (p.Thr33789=) n.446+6689A>T n.220-5407A>T c.105387T>A (p.Thr35129=) c.79281T>A (p.Thr26427=) c.79140T>A (p.Thr26380=) c.105183T>A (p.Thr35061=) c.100581T>A (p.Thr33527=) c.100578T>A (p.Thr33526=) c.97620T>A (p.Thr32540=) c.79236T>A (p.Thr26412=) c.100731T>A (p.Thr33577=) c.100728T>A (p.Thr33576=) c.100161T>A (p.Thr33387=) c.97503T>A (p.Thr32501=) c.97422T>A (p.Thr32474=) c.79185T>A (p.Thr26395=) c.69039T>A (p.Thr23013=) | |
2 | g.178530326G>A | CA349406297 | TTN,TTN-AS1 | c.98585C>T (p.Thr32862Ile) c.79670C>T (p.Thr26557Ile) c.79469C>T (p.Thr26490Ile) c.79094C>T (p.Thr26365Ile) c.106289C>T (p.Thr35430Ile) c.101366C>T (p.Thr33789Ile) n.446+6690G>A n.220-5406G>A c.105386C>T (p.Thr35129Ile) c.79280C>T (p.Thr26427Ile) c.79139C>T (p.Thr26380Ile) c.105182C>T (p.Thr35061Ile) c.100580C>T (p.Thr33527Ile) c.100577C>T (p.Thr33526Ile) c.97619C>T (p.Thr32540Ile) c.79235C>T (p.Thr26412Ile) c.100730C>T (p.Thr33577Ile) c.100727C>T (p.Thr33576Ile) c.100160C>T (p.Thr33387Ile) c.97502C>T (p.Thr32501Ile) c.97421C>T (p.Thr32474Ile) c.79184C>T (p.Thr26395Ile) c.69038C>T (p.Thr23013Ile) | gnomAD v4 |
2 | g.178530326G>C | CA349406298 | TTN,TTN-AS1 | c.98585C>G (p.Thr32862Ser) c.79670C>G (p.Thr26557Ser) c.79469C>G (p.Thr26490Ser) c.79094C>G (p.Thr26365Ser) c.106289C>G (p.Thr35430Ser) c.101366C>G (p.Thr33789Ser) n.446+6690G>C n.220-5406G>C c.105386C>G (p.Thr35129Ser) c.79280C>G (p.Thr26427Ser) c.79139C>G (p.Thr26380Ser) c.105182C>G (p.Thr35061Ser) c.100580C>G (p.Thr33527Ser) c.100577C>G (p.Thr33526Ser) c.97619C>G (p.Thr32540Ser) c.79235C>G (p.Thr26412Ser) c.100730C>G (p.Thr33577Ser) c.100727C>G (p.Thr33576Ser) c.100160C>G (p.Thr33387Ser) c.97502C>G (p.Thr32501Ser) c.97421C>G (p.Thr32474Ser) c.79184C>G (p.Thr26395Ser) c.69038C>G (p.Thr23013Ser) | gnomAD v4 |
2 | g.178530326G>T | CA349406300 | TTN,TTN-AS1 | c.98585C>A (p.Thr32862Asn) c.79670C>A (p.Thr26557Asn) c.79469C>A (p.Thr26490Asn) c.79094C>A (p.Thr26365Asn) c.106289C>A (p.Thr35430Asn) c.101366C>A (p.Thr33789Asn) n.446+6690G>T n.220-5406G>T c.105386C>A (p.Thr35129Asn) c.79280C>A (p.Thr26427Asn) c.79139C>A (p.Thr26380Asn) c.105182C>A (p.Thr35061Asn) c.100580C>A (p.Thr33527Asn) c.100577C>A (p.Thr33526Asn) c.97619C>A (p.Thr32540Asn) c.79235C>A (p.Thr26412Asn) c.100730C>A (p.Thr33577Asn) c.100727C>A (p.Thr33576Asn) c.100160C>A (p.Thr33387Asn) c.97502C>A (p.Thr32501Asn) c.97421C>A (p.Thr32474Asn) c.79184C>A (p.Thr26395Asn) c.69038C>A (p.Thr23013Asn) | ClinVar |
2 | g.178530327T>A | CA349406304 | TTN,TTN-AS1 | c.98584A>T (p.Thr32862Ser) c.79669A>T (p.Thr26557Ser) c.79468A>T (p.Thr26490Ser) c.79093A>T (p.Thr26365Ser) c.106288A>T (p.Thr35430Ser) c.101365A>T (p.Thr33789Ser) n.446+6691T>A n.220-5405T>A c.105385A>T (p.Thr35129Ser) c.79279A>T (p.Thr26427Ser) c.79138A>T (p.Thr26380Ser) c.105181A>T (p.Thr35061Ser) c.100579A>T (p.Thr33527Ser) c.100576A>T (p.Thr33526Ser) c.97618A>T (p.Thr32540Ser) c.79234A>T (p.Thr26412Ser) c.100729A>T (p.Thr33577Ser) c.100726A>T (p.Thr33576Ser) c.100159A>T (p.Thr33387Ser) c.97501A>T (p.Thr32501Ser) c.97420A>T (p.Thr32474Ser) c.79183A>T (p.Thr26395Ser) c.69037A>T (p.Thr23013Ser) | |
2 | g.178530327T>C | CA349406308 | TTN,TTN-AS1 | c.98584A>G (p.Thr32862Ala) c.79669A>G (p.Thr26557Ala) c.79468A>G (p.Thr26490Ala) c.79093A>G (p.Thr26365Ala) c.106288A>G (p.Thr35430Ala) c.101365A>G (p.Thr33789Ala) n.446+6691T>C n.220-5405T>C c.105385A>G (p.Thr35129Ala) c.79279A>G (p.Thr26427Ala) c.79138A>G (p.Thr26380Ala) c.105181A>G (p.Thr35061Ala) c.100579A>G (p.Thr33527Ala) c.100576A>G (p.Thr33526Ala) c.97618A>G (p.Thr32540Ala) c.79234A>G (p.Thr26412Ala) c.100729A>G (p.Thr33577Ala) c.100726A>G (p.Thr33576Ala) c.100159A>G (p.Thr33387Ala) c.97501A>G (p.Thr32501Ala) c.97420A>G (p.Thr32474Ala) c.79183A>G (p.Thr26395Ala) c.69037A>G (p.Thr23013Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530327T>G | CA349406306 | TTN,TTN-AS1 | c.98584A>C (p.Thr32862Pro) c.79669A>C (p.Thr26557Pro) c.79468A>C (p.Thr26490Pro) c.79093A>C (p.Thr26365Pro) c.106288A>C (p.Thr35430Pro) c.101365A>C (p.Thr33789Pro) n.446+6691T>G n.220-5405T>G c.105385A>C (p.Thr35129Pro) c.79279A>C (p.Thr26427Pro) c.79138A>C (p.Thr26380Pro) c.105181A>C (p.Thr35061Pro) c.100579A>C (p.Thr33527Pro) c.100576A>C (p.Thr33526Pro) c.97618A>C (p.Thr32540Pro) c.79234A>C (p.Thr26412Pro) c.100729A>C (p.Thr33577Pro) c.100726A>C (p.Thr33576Pro) c.100159A>C (p.Thr33387Pro) c.97501A>C (p.Thr32501Pro) c.97420A>C (p.Thr32474Pro) c.79183A>C (p.Thr26395Pro) c.69037A>C (p.Thr23013Pro) | |
2 | g.178530327T= | CA1310514517 | TTN,TTN-AS1 | c.98584A= (p.Thr32862=) c.79669A= (p.Thr26557=) c.79468A= (p.Thr26490=) c.79093A= (p.Thr26365=) c.106288A= (p.Thr35430=) c.101365A= (p.Thr33789=) n.446+6691T= n.220-5405T= c.105385A= (p.Thr35129=) c.79279A= (p.Thr26427=) c.79138A= (p.Thr26380=) c.105181A= (p.Thr35061=) c.100579A= (p.Thr33527=) c.100576A= (p.Thr33526=) c.97618A= (p.Thr32540=) c.79234A= (p.Thr26412=) c.100729A= (p.Thr33577=) c.100726A= (p.Thr33576=) c.100159A= (p.Thr33387=) c.97501A= (p.Thr32501=) c.97420A= (p.Thr32474=) c.79183A= (p.Thr26395=) c.69037A= (p.Thr23013=) | |
2 | g.178530328T>A | CA430235153 | TTN,TTN-AS1 | c.98583A>T (p.Thr32861=) c.79668A>T (p.Thr26556=) c.79467A>T (p.Thr26489=) c.79092A>T (p.Thr26364=) c.106287A>T (p.Thr35429=) c.101364A>T (p.Thr33788=) n.446+6692T>A n.220-5404T>A c.105384A>T (p.Thr35128=) c.79278A>T (p.Thr26426=) c.79137A>T (p.Thr26379=) c.105180A>T (p.Thr35060=) c.100578A>T (p.Thr33526=) c.100575A>T (p.Thr33525=) c.97617A>T (p.Thr32539=) c.79233A>T (p.Thr26411=) c.100728A>T (p.Thr33576=) c.100725A>T (p.Thr33575=) c.100158A>T (p.Thr33386=) c.97500A>T (p.Thr32500=) c.97419A>T (p.Thr32473=) c.79182A>T (p.Thr26394=) c.69036A>T (p.Thr23012=) | |
2 | g.178530328T>C | CA430235151 | TTN,TTN-AS1 | c.98583A>G (p.Thr32861=) c.79668A>G (p.Thr26556=) c.79467A>G (p.Thr26489=) c.79092A>G (p.Thr26364=) c.106287A>G (p.Thr35429=) c.101364A>G (p.Thr33788=) n.446+6692T>C n.220-5404T>C c.105384A>G (p.Thr35128=) c.79278A>G (p.Thr26426=) c.79137A>G (p.Thr26379=) c.105180A>G (p.Thr35060=) c.100578A>G (p.Thr33526=) c.100575A>G (p.Thr33525=) c.97617A>G (p.Thr32539=) c.79233A>G (p.Thr26411=) c.100728A>G (p.Thr33576=) c.100725A>G (p.Thr33575=) c.100158A>G (p.Thr33386=) c.97500A>G (p.Thr32500=) c.97419A>G (p.Thr32473=) c.79182A>G (p.Thr26394=) c.69036A>G (p.Thr23012=) | |
2 | g.178530328T>G | CA430235150 | TTN,TTN-AS1 | c.98583A>C (p.Thr32861=) c.79668A>C (p.Thr26556=) c.79467A>C (p.Thr26489=) c.79092A>C (p.Thr26364=) c.106287A>C (p.Thr35429=) c.101364A>C (p.Thr33788=) n.446+6692T>G n.220-5404T>G c.105384A>C (p.Thr35128=) c.79278A>C (p.Thr26426=) c.79137A>C (p.Thr26379=) c.105180A>C (p.Thr35060=) c.100578A>C (p.Thr33526=) c.100575A>C (p.Thr33525=) c.97617A>C (p.Thr32539=) c.79233A>C (p.Thr26411=) c.100728A>C (p.Thr33576=) c.100725A>C (p.Thr33575=) c.100158A>C (p.Thr33386=) c.97500A>C (p.Thr32500=) c.97419A>C (p.Thr32473=) c.79182A>C (p.Thr26394=) c.69036A>C (p.Thr23012=) | |
2 | g.178530329G>A | CA349406310 | TTN,TTN-AS1 | c.98582C>T (p.Thr32861Ile) c.79667C>T (p.Thr26556Ile) c.79466C>T (p.Thr26489Ile) c.79091C>T (p.Thr26364Ile) c.106286C>T (p.Thr35429Ile) c.101363C>T (p.Thr33788Ile) n.446+6693G>A n.220-5403G>A c.105383C>T (p.Thr35128Ile) c.79277C>T (p.Thr26426Ile) c.79136C>T (p.Thr26379Ile) c.105179C>T (p.Thr35060Ile) c.100577C>T (p.Thr33526Ile) c.100574C>T (p.Thr33525Ile) c.97616C>T (p.Thr32539Ile) c.79232C>T (p.Thr26411Ile) c.100727C>T (p.Thr33576Ile) c.100724C>T (p.Thr33575Ile) c.100157C>T (p.Thr33386Ile) c.97499C>T (p.Thr32500Ile) c.97418C>T (p.Thr32473Ile) c.79181C>T (p.Thr26394Ile) c.69035C>T (p.Thr23012Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530329G>C | CA349406312 | TTN,TTN-AS1 | c.98582C>G (p.Thr32861Arg) c.79667C>G (p.Thr26556Arg) c.79466C>G (p.Thr26489Arg) c.79091C>G (p.Thr26364Arg) c.106286C>G (p.Thr35429Arg) c.101363C>G (p.Thr33788Arg) n.446+6693G>C n.220-5403G>C c.105383C>G (p.Thr35128Arg) c.79277C>G (p.Thr26426Arg) c.79136C>G (p.Thr26379Arg) c.105179C>G (p.Thr35060Arg) c.100577C>G (p.Thr33526Arg) c.100574C>G (p.Thr33525Arg) c.97616C>G (p.Thr32539Arg) c.79232C>G (p.Thr26411Arg) c.100727C>G (p.Thr33576Arg) c.100724C>G (p.Thr33575Arg) c.100157C>G (p.Thr33386Arg) c.97499C>G (p.Thr32500Arg) c.97418C>G (p.Thr32473Arg) c.79181C>G (p.Thr26394Arg) c.69035C>G (p.Thr23012Arg) | |
2 | g.178530329G= | CA1310514518 | TTN,TTN-AS1 | c.98582C= (p.Thr32861=) c.79667C= (p.Thr26556=) c.79466C= (p.Thr26489=) c.79091C= (p.Thr26364=) c.106286C= (p.Thr35429=) c.101363C= (p.Thr33788=) n.446+6693G= n.220-5403G= c.105383C= (p.Thr35128=) c.79277C= (p.Thr26426=) c.79136C= (p.Thr26379=) c.105179C= (p.Thr35060=) c.100577C= (p.Thr33526=) c.100574C= (p.Thr33525=) c.97616C= (p.Thr32539=) c.79232C= (p.Thr26411=) c.100727C= (p.Thr33576=) c.100724C= (p.Thr33575=) c.100157C= (p.Thr33386=) c.97499C= (p.Thr32500=) c.97418C= (p.Thr32473=) c.79181C= (p.Thr26394=) c.69035C= (p.Thr23012=) | |
2 | g.178530329G>T | CA349406313 | TTN,TTN-AS1 | c.98582C>A (p.Thr32861Lys) c.79667C>A (p.Thr26556Lys) c.79466C>A (p.Thr26489Lys) c.79091C>A (p.Thr26364Lys) c.106286C>A (p.Thr35429Lys) c.101363C>A (p.Thr33788Lys) n.446+6693G>T n.220-5403G>T c.105383C>A (p.Thr35128Lys) c.79277C>A (p.Thr26426Lys) c.79136C>A (p.Thr26379Lys) c.105179C>A (p.Thr35060Lys) c.100577C>A (p.Thr33526Lys) c.100574C>A (p.Thr33525Lys) c.97616C>A (p.Thr32539Lys) c.79232C>A (p.Thr26411Lys) c.100727C>A (p.Thr33576Lys) c.100724C>A (p.Thr33575Lys) c.100157C>A (p.Thr33386Lys) c.97499C>A (p.Thr32500Lys) c.97418C>A (p.Thr32473Lys) c.79181C>A (p.Thr26394Lys) c.69035C>A (p.Thr23012Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530330T>A | CA60953294 | TTN,TTN-AS1 | c.98581A>T (p.Thr32861Ser) c.79666A>T (p.Thr26556Ser) c.79465A>T (p.Thr26489Ser) c.79090A>T (p.Thr26364Ser) c.106285A>T (p.Thr35429Ser) c.101362A>T (p.Thr33788Ser) n.446+6694T>A n.220-5402T>A c.105382A>T (p.Thr35128Ser) c.79276A>T (p.Thr26426Ser) c.79135A>T (p.Thr26379Ser) c.105178A>T (p.Thr35060Ser) c.100576A>T (p.Thr33526Ser) c.100573A>T (p.Thr33525Ser) c.97615A>T (p.Thr32539Ser) c.79231A>T (p.Thr26411Ser) c.100726A>T (p.Thr33576Ser) c.100723A>T (p.Thr33575Ser) c.100156A>T (p.Thr33386Ser) c.97498A>T (p.Thr32500Ser) c.97417A>T (p.Thr32473Ser) c.79180A>T (p.Thr26394Ser) c.69034A>T (p.Thr23012Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530330T>C | CA349406316 | TTN,TTN-AS1 | c.98581A>G (p.Thr32861Ala) c.79666A>G (p.Thr26556Ala) c.79465A>G (p.Thr26489Ala) c.79090A>G (p.Thr26364Ala) c.106285A>G (p.Thr35429Ala) c.101362A>G (p.Thr33788Ala) n.446+6694T>C n.220-5402T>C c.105382A>G (p.Thr35128Ala) c.79276A>G (p.Thr26426Ala) c.79135A>G (p.Thr26379Ala) c.105178A>G (p.Thr35060Ala) c.100576A>G (p.Thr33526Ala) c.100573A>G (p.Thr33525Ala) c.97615A>G (p.Thr32539Ala) c.79231A>G (p.Thr26411Ala) c.100726A>G (p.Thr33576Ala) c.100723A>G (p.Thr33575Ala) c.100156A>G (p.Thr33386Ala) c.97498A>G (p.Thr32500Ala) c.97417A>G (p.Thr32473Ala) c.79180A>G (p.Thr26394Ala) c.69034A>G (p.Thr23012Ala) | gnomAD v4 |
2 | g.178530330T>G | CA349406317 | TTN,TTN-AS1 | c.98581A>C (p.Thr32861Pro) c.79666A>C (p.Thr26556Pro) c.79465A>C (p.Thr26489Pro) c.79090A>C (p.Thr26364Pro) c.106285A>C (p.Thr35429Pro) c.101362A>C (p.Thr33788Pro) n.446+6694T>G n.220-5402T>G c.105382A>C (p.Thr35128Pro) c.79276A>C (p.Thr26426Pro) c.79135A>C (p.Thr26379Pro) c.105178A>C (p.Thr35060Pro) c.100576A>C (p.Thr33526Pro) c.100573A>C (p.Thr33525Pro) c.97615A>C (p.Thr32539Pro) c.79231A>C (p.Thr26411Pro) c.100726A>C (p.Thr33576Pro) c.100723A>C (p.Thr33575Pro) c.100156A>C (p.Thr33386Pro) c.97498A>C (p.Thr32500Pro) c.97417A>C (p.Thr32473Pro) c.79180A>C (p.Thr26394Pro) c.69034A>C (p.Thr23012Pro) | |
2 | g.178530330T= | CA1310514519 | TTN,TTN-AS1 | c.98581A= (p.Thr32861=) c.79666A= (p.Thr26556=) c.79465A= (p.Thr26489=) c.79090A= (p.Thr26364=) c.106285A= (p.Thr35429=) c.101362A= (p.Thr33788=) n.446+6694T= n.220-5402T= c.105382A= (p.Thr35128=) c.79276A= (p.Thr26426=) c.79135A= (p.Thr26379=) c.105178A= (p.Thr35060=) c.100576A= (p.Thr33526=) c.100573A= (p.Thr33525=) c.97615A= (p.Thr32539=) c.79231A= (p.Thr26411=) c.100726A= (p.Thr33576=) c.100723A= (p.Thr33575=) c.100156A= (p.Thr33386=) c.97498A= (p.Thr32500=) c.97417A= (p.Thr32473=) c.79180A= (p.Thr26394=) c.69034A= (p.Thr23012=) | |
2 | g.178530331A>C | CA349406319 | TTN,TTN-AS1 | c.98580T>G (p.Asp32860Glu) c.79665T>G (p.Asp26555Glu) c.79464T>G (p.Asp26488Glu) c.79089T>G (p.Asp26363Glu) c.106284T>G (p.Asp35428Glu) c.101361T>G (p.Asp33787Glu) n.446+6695A>C n.220-5401A>C c.105381T>G (p.Asp35127Glu) c.79275T>G (p.Asp26425Glu) c.79134T>G (p.Asp26378Glu) c.105177T>G (p.Asp35059Glu) c.100575T>G (p.Asp33525Glu) c.100572T>G (p.Asp33524Glu) c.97614T>G (p.Asp32538Glu) c.79230T>G (p.Asp26410Glu) c.100725T>G (p.Asp33575Glu) c.100722T>G (p.Asp33574Glu) c.100155T>G (p.Asp33385Glu) c.97497T>G (p.Asp32499Glu) c.97416T>G (p.Asp32472Glu) c.79179T>G (p.Asp26393Glu) c.69033T>G (p.Asp23011Glu) | |
2 | g.178530331A>G | CA430235158 | TTN,TTN-AS1 | c.98580T>C (p.Asp32860=) c.79665T>C (p.Asp26555=) c.79464T>C (p.Asp26488=) c.79089T>C (p.Asp26363=) c.106284T>C (p.Asp35428=) c.101361T>C (p.Asp33787=) n.446+6695A>G n.220-5401A>G c.105381T>C (p.Asp35127=) c.79275T>C (p.Asp26425=) c.79134T>C (p.Asp26378=) c.105177T>C (p.Asp35059=) c.100575T>C (p.Asp33525=) c.100572T>C (p.Asp33524=) c.97614T>C (p.Asp32538=) c.79230T>C (p.Asp26410=) c.100725T>C (p.Asp33575=) c.100722T>C (p.Asp33574=) c.100155T>C (p.Asp33385=) c.97497T>C (p.Asp32499=) c.97416T>C (p.Asp32472=) c.79179T>C (p.Asp26393=) c.69033T>C (p.Asp23011=) | |
2 | g.178530331A>T | CA349406320 | TTN,TTN-AS1 | c.98580T>A (p.Asp32860Glu) c.79665T>A (p.Asp26555Glu) c.79464T>A (p.Asp26488Glu) c.79089T>A (p.Asp26363Glu) c.106284T>A (p.Asp35428Glu) c.101361T>A (p.Asp33787Glu) n.446+6695A>T n.220-5401A>T c.105381T>A (p.Asp35127Glu) c.79275T>A (p.Asp26425Glu) c.79134T>A (p.Asp26378Glu) c.105177T>A (p.Asp35059Glu) c.100575T>A (p.Asp33525Glu) c.100572T>A (p.Asp33524Glu) c.97614T>A (p.Asp32538Glu) c.79230T>A (p.Asp26410Glu) c.100725T>A (p.Asp33575Glu) c.100722T>A (p.Asp33574Glu) c.100155T>A (p.Asp33385Glu) c.97497T>A (p.Asp32499Glu) c.97416T>A (p.Asp32472Glu) c.79179T>A (p.Asp26393Glu) c.69033T>A (p.Asp23011Glu) | |
2 | g.178530332T>A | CA1985137 | TTN,TTN-AS1 | c.98579A>T (p.Asp32860Val) c.79664A>T (p.Asp26555Val) c.79463A>T (p.Asp26488Val) c.79088A>T (p.Asp26363Val) c.106283A>T (p.Asp35428Val) c.101360A>T (p.Asp33787Val) n.446+6696T>A n.220-5400T>A c.105380A>T (p.Asp35127Val) c.79274A>T (p.Asp26425Val) c.79133A>T (p.Asp26378Val) c.105176A>T (p.Asp35059Val) c.100574A>T (p.Asp33525Val) c.100571A>T (p.Asp33524Val) c.97613A>T (p.Asp32538Val) c.79229A>T (p.Asp26410Val) c.100724A>T (p.Asp33575Val) c.100721A>T (p.Asp33574Val) c.100154A>T (p.Asp33385Val) c.97496A>T (p.Asp32499Val) c.97415A>T (p.Asp32472Val) c.79178A>T (p.Asp26393Val) c.69032A>T (p.Asp23011Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530332T>C | CA349406323 | TTN,TTN-AS1 | c.98579A>G (p.Asp32860Gly) c.79664A>G (p.Asp26555Gly) c.79463A>G (p.Asp26488Gly) c.79088A>G (p.Asp26363Gly) c.106283A>G (p.Asp35428Gly) c.101360A>G (p.Asp33787Gly) n.446+6696T>C n.220-5400T>C c.105380A>G (p.Asp35127Gly) c.79274A>G (p.Asp26425Gly) c.79133A>G (p.Asp26378Gly) c.105176A>G (p.Asp35059Gly) c.100574A>G (p.Asp33525Gly) c.100571A>G (p.Asp33524Gly) c.97613A>G (p.Asp32538Gly) c.79229A>G (p.Asp26410Gly) c.100724A>G (p.Asp33575Gly) c.100721A>G (p.Asp33574Gly) c.100154A>G (p.Asp33385Gly) c.97496A>G (p.Asp32499Gly) c.97415A>G (p.Asp32472Gly) c.79178A>G (p.Asp26393Gly) c.69032A>G (p.Asp23011Gly) | |
2 | g.178530332T>G | CA349406325 | TTN,TTN-AS1 | c.98579A>C (p.Asp32860Ala) c.79664A>C (p.Asp26555Ala) c.79463A>C (p.Asp26488Ala) c.79088A>C (p.Asp26363Ala) c.106283A>C (p.Asp35428Ala) c.101360A>C (p.Asp33787Ala) n.446+6696T>G n.220-5400T>G c.105380A>C (p.Asp35127Ala) c.79274A>C (p.Asp26425Ala) c.79133A>C (p.Asp26378Ala) c.105176A>C (p.Asp35059Ala) c.100574A>C (p.Asp33525Ala) c.100571A>C (p.Asp33524Ala) c.97613A>C (p.Asp32538Ala) c.79229A>C (p.Asp26410Ala) c.100724A>C (p.Asp33575Ala) c.100721A>C (p.Asp33574Ala) c.100154A>C (p.Asp33385Ala) c.97496A>C (p.Asp32499Ala) c.97415A>C (p.Asp32472Ala) c.79178A>C (p.Asp26393Ala) c.69032A>C (p.Asp23011Ala) | |
2 | g.178530332T= | CA1310514520 | TTN,TTN-AS1 | c.98579A= (p.Asp32860=) c.79664A= (p.Asp26555=) c.79463A= (p.Asp26488=) c.79088A= (p.Asp26363=) c.106283A= (p.Asp35428=) c.101360A= (p.Asp33787=) n.446+6696T= n.220-5400T= c.105380A= (p.Asp35127=) c.79274A= (p.Asp26425=) c.79133A= (p.Asp26378=) c.105176A= (p.Asp35059=) c.100574A= (p.Asp33525=) c.100571A= (p.Asp33524=) c.97613A= (p.Asp32538=) c.79229A= (p.Asp26410=) c.100724A= (p.Asp33575=) c.100721A= (p.Asp33574=) c.100154A= (p.Asp33385=) c.97496A= (p.Asp32499=) c.97415A= (p.Asp32472=) c.79178A= (p.Asp26393=) c.69032A= (p.Asp23011=) | |
2 | g.178530333C>A | CA349406328 | TTN,TTN-AS1 | c.98578G>T (p.Asp32860Tyr) c.79663G>T (p.Asp26555Tyr) c.79462G>T (p.Asp26488Tyr) c.79087G>T (p.Asp26363Tyr) c.106282G>T (p.Asp35428Tyr) c.101359G>T (p.Asp33787Tyr) n.446+6697C>A n.220-5399C>A c.105379G>T (p.Asp35127Tyr) c.79273G>T (p.Asp26425Tyr) c.79132G>T (p.Asp26378Tyr) c.105175G>T (p.Asp35059Tyr) c.100573G>T (p.Asp33525Tyr) c.100570G>T (p.Asp33524Tyr) c.97612G>T (p.Asp32538Tyr) c.79228G>T (p.Asp26410Tyr) c.100723G>T (p.Asp33575Tyr) c.100720G>T (p.Asp33574Tyr) c.100153G>T (p.Asp33385Tyr) c.97495G>T (p.Asp32499Tyr) c.97414G>T (p.Asp32472Tyr) c.79177G>T (p.Asp26393Tyr) c.69031G>T (p.Asp23011Tyr) | |
2 | g.178530333C>G | CA349406330 | TTN,TTN-AS1 | c.98578G>C (p.Asp32860His) c.79663G>C (p.Asp26555His) c.79462G>C (p.Asp26488His) c.79087G>C (p.Asp26363His) c.106282G>C (p.Asp35428His) c.101359G>C (p.Asp33787His) n.446+6697C>G n.220-5399C>G c.105379G>C (p.Asp35127His) c.79273G>C (p.Asp26425His) c.79132G>C (p.Asp26378His) c.105175G>C (p.Asp35059His) c.100573G>C (p.Asp33525His) c.100570G>C (p.Asp33524His) c.97612G>C (p.Asp32538His) c.79228G>C (p.Asp26410His) c.100723G>C (p.Asp33575His) c.100720G>C (p.Asp33574His) c.100153G>C (p.Asp33385His) c.97495G>C (p.Asp32499His) c.97414G>C (p.Asp32472His) c.79177G>C (p.Asp26393His) c.69031G>C (p.Asp23011His) | |
2 | g.178530333C>T | CA349406327 | TTN,TTN-AS1 | c.98578G>A (p.Asp32860Asn) c.79663G>A (p.Asp26555Asn) c.79462G>A (p.Asp26488Asn) c.79087G>A (p.Asp26363Asn) c.106282G>A (p.Asp35428Asn) c.101359G>A (p.Asp33787Asn) n.446+6697C>T n.220-5399C>T c.105379G>A (p.Asp35127Asn) c.79273G>A (p.Asp26425Asn) c.79132G>A (p.Asp26378Asn) c.105175G>A (p.Asp35059Asn) c.100573G>A (p.Asp33525Asn) c.100570G>A (p.Asp33524Asn) c.97612G>A (p.Asp32538Asn) c.79228G>A (p.Asp26410Asn) c.100723G>A (p.Asp33575Asn) c.100720G>A (p.Asp33574Asn) c.100153G>A (p.Asp33385Asn) c.97495G>A (p.Asp32499Asn) c.97414G>A (p.Asp32472Asn) c.79177G>A (p.Asp26393Asn) c.69031G>A (p.Asp23011Asn) | |
2 | g.178530334C>A | CA349406333 | TTN,TTN-AS1 | c.98577G>T (p.Gln32859His) c.79662G>T (p.Gln26554His) c.79461G>T (p.Gln26487His) c.79086G>T (p.Gln26362His) c.106281G>T (p.Gln35427His) c.101358G>T (p.Gln33786His) n.446+6698C>A n.220-5398C>A c.105378G>T (p.Gln35126His) c.79272G>T (p.Gln26424His) c.79131G>T (p.Gln26377His) c.105174G>T (p.Gln35058His) c.100572G>T (p.Gln33524His) c.100569G>T (p.Gln33523His) c.97611G>T (p.Gln32537His) c.79227G>T (p.Gln26409His) c.100722G>T (p.Gln33574His) c.100719G>T (p.Gln33573His) c.100152G>T (p.Gln33384His) c.97494G>T (p.Gln32498His) c.97413G>T (p.Gln32471His) c.79176G>T (p.Gln26392His) c.69030G>T (p.Gln23010His) | |
2 | g.178530334C>G | CA349406331 | TTN,TTN-AS1 | c.98577G>C (p.Gln32859His) c.79662G>C (p.Gln26554His) c.79461G>C (p.Gln26487His) c.79086G>C (p.Gln26362His) c.106281G>C (p.Gln35427His) c.101358G>C (p.Gln33786His) n.446+6698C>G n.220-5398C>G c.105378G>C (p.Gln35126His) c.79272G>C (p.Gln26424His) c.79131G>C (p.Gln26377His) c.105174G>C (p.Gln35058His) c.100572G>C (p.Gln33524His) c.100569G>C (p.Gln33523His) c.97611G>C (p.Gln32537His) c.79227G>C (p.Gln26409His) c.100722G>C (p.Gln33574His) c.100719G>C (p.Gln33573His) c.100152G>C (p.Gln33384His) c.97494G>C (p.Gln32498His) c.97413G>C (p.Gln32471His) c.79176G>C (p.Gln26392His) c.69030G>C (p.Gln23010His) | |
2 | g.178530334C>T | CA430235164 | TTN,TTN-AS1 | c.98577G>A (p.Gln32859=) c.79662G>A (p.Gln26554=) c.79461G>A (p.Gln26487=) c.79086G>A (p.Gln26362=) c.106281G>A (p.Gln35427=) c.101358G>A (p.Gln33786=) n.446+6698C>T n.220-5398C>T c.105378G>A (p.Gln35126=) c.79272G>A (p.Gln26424=) c.79131G>A (p.Gln26377=) c.105174G>A (p.Gln35058=) c.100572G>A (p.Gln33524=) c.100569G>A (p.Gln33523=) c.97611G>A (p.Gln32537=) c.79227G>A (p.Gln26409=) c.100722G>A (p.Gln33574=) c.100719G>A (p.Gln33573=) c.100152G>A (p.Gln33384=) c.97494G>A (p.Gln32498=) c.97413G>A (p.Gln32471=) c.79176G>A (p.Gln26392=) c.69030G>A (p.Gln23010=) | gnomAD v4 |
2 | g.178530335T>A | CA349406338 | TTN,TTN-AS1 | c.98576A>T (p.Gln32859Leu) c.79661A>T (p.Gln26554Leu) c.79460A>T (p.Gln26487Leu) c.79085A>T (p.Gln26362Leu) c.106280A>T (p.Gln35427Leu) c.101357A>T (p.Gln33786Leu) n.446+6699T>A n.220-5397T>A c.105377A>T (p.Gln35126Leu) c.79271A>T (p.Gln26424Leu) c.79130A>T (p.Gln26377Leu) c.105173A>T (p.Gln35058Leu) c.100571A>T (p.Gln33524Leu) c.100568A>T (p.Gln33523Leu) c.97610A>T (p.Gln32537Leu) c.79226A>T (p.Gln26409Leu) c.100721A>T (p.Gln33574Leu) c.100718A>T (p.Gln33573Leu) c.100151A>T (p.Gln33384Leu) c.97493A>T (p.Gln32498Leu) c.97412A>T (p.Gln32471Leu) c.79175A>T (p.Gln26392Leu) c.69029A>T (p.Gln23010Leu) | |
2 | g.178530335T>C | CA349406335 | TTN,TTN-AS1 | c.98576A>G (p.Gln32859Arg) c.79661A>G (p.Gln26554Arg) c.79460A>G (p.Gln26487Arg) c.79085A>G (p.Gln26362Arg) c.106280A>G (p.Gln35427Arg) c.101357A>G (p.Gln33786Arg) n.446+6699T>C n.220-5397T>C c.105377A>G (p.Gln35126Arg) c.79271A>G (p.Gln26424Arg) c.79130A>G (p.Gln26377Arg) c.105173A>G (p.Gln35058Arg) c.100571A>G (p.Gln33524Arg) c.100568A>G (p.Gln33523Arg) c.97610A>G (p.Gln32537Arg) c.79226A>G (p.Gln26409Arg) c.100721A>G (p.Gln33574Arg) c.100718A>G (p.Gln33573Arg) c.100151A>G (p.Gln33384Arg) c.97493A>G (p.Gln32498Arg) c.97412A>G (p.Gln32471Arg) c.79175A>G (p.Gln26392Arg) c.69029A>G (p.Gln23010Arg) | gnomAD v4 |
2 | g.178530335T>G | CA349406337 | TTN,TTN-AS1 | c.98576A>C (p.Gln32859Pro) c.79661A>C (p.Gln26554Pro) c.79460A>C (p.Gln26487Pro) c.79085A>C (p.Gln26362Pro) c.106280A>C (p.Gln35427Pro) c.101357A>C (p.Gln33786Pro) n.446+6699T>G n.220-5397T>G c.105377A>C (p.Gln35126Pro) c.79271A>C (p.Gln26424Pro) c.79130A>C (p.Gln26377Pro) c.105173A>C (p.Gln35058Pro) c.100571A>C (p.Gln33524Pro) c.100568A>C (p.Gln33523Pro) c.97610A>C (p.Gln32537Pro) c.79226A>C (p.Gln26409Pro) c.100721A>C (p.Gln33574Pro) c.100718A>C (p.Gln33573Pro) c.100151A>C (p.Gln33384Pro) c.97493A>C (p.Gln32498Pro) c.97412A>C (p.Gln32471Pro) c.79175A>C (p.Gln26392Pro) c.69029A>C (p.Gln23010Pro) | |
2 | g.178530336G>A | CA349406340 | TTN,TTN-AS1 | c.98575C>T (p.Gln32859Ter) c.79660C>T (p.Gln26554Ter) c.79459C>T (p.Gln26487Ter) c.79084C>T (p.Gln26362Ter) c.106279C>T (p.Gln35427Ter) c.101356C>T (p.Gln33786Ter) n.446+6700G>A n.220-5396G>A c.105376C>T (p.Gln35126Ter) c.79270C>T (p.Gln26424Ter) c.79129C>T (p.Gln26377Ter) c.105172C>T (p.Gln35058Ter) c.100570C>T (p.Gln33524Ter) c.100567C>T (p.Gln33523Ter) c.97609C>T (p.Gln32537Ter) c.79225C>T (p.Gln26409Ter) c.100720C>T (p.Gln33574Ter) c.100717C>T (p.Gln33573Ter) c.100150C>T (p.Gln33384Ter) c.97492C>T (p.Gln32498Ter) c.97411C>T (p.Gln32471Ter) c.79174C>T (p.Gln26392Ter) c.69028C>T (p.Gln23010Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530336G>C | CA349406342 | TTN,TTN-AS1 | c.98575C>G (p.Gln32859Glu) c.79660C>G (p.Gln26554Glu) c.79459C>G (p.Gln26487Glu) c.79084C>G (p.Gln26362Glu) c.106279C>G (p.Gln35427Glu) c.101356C>G (p.Gln33786Glu) n.446+6700G>C n.220-5396G>C c.105376C>G (p.Gln35126Glu) c.79270C>G (p.Gln26424Glu) c.79129C>G (p.Gln26377Glu) c.105172C>G (p.Gln35058Glu) c.100570C>G (p.Gln33524Glu) c.100567C>G (p.Gln33523Glu) c.97609C>G (p.Gln32537Glu) c.79225C>G (p.Gln26409Glu) c.100720C>G (p.Gln33574Glu) c.100717C>G (p.Gln33573Glu) c.100150C>G (p.Gln33384Glu) c.97492C>G (p.Gln32498Glu) c.97411C>G (p.Gln32471Glu) c.79174C>G (p.Gln26392Glu) c.69028C>G (p.Gln23010Glu) | |
2 | g.178530336G= | CA1310514522 | TTN,TTN-AS1 | c.98575C= (p.Gln32859=) c.79660C= (p.Gln26554=) c.79459C= (p.Gln26487=) c.79084C= (p.Gln26362=) c.106279C= (p.Gln35427=) c.101356C= (p.Gln33786=) n.446+6700G= n.220-5396G= c.105376C= (p.Gln35126=) c.79270C= (p.Gln26424=) c.79129C= (p.Gln26377=) c.105172C= (p.Gln35058=) c.100570C= (p.Gln33524=) c.100567C= (p.Gln33523=) c.97609C= (p.Gln32537=) c.79225C= (p.Gln26409=) c.100720C= (p.Gln33574=) c.100717C= (p.Gln33573=) c.100150C= (p.Gln33384=) c.97492C= (p.Gln32498=) c.97411C= (p.Gln32471=) c.79174C= (p.Gln26392=) c.69028C= (p.Gln23010=) | |
2 | g.178530336G>T | CA349406344 | TTN,TTN-AS1 | c.98575C>A (p.Gln32859Lys) c.79660C>A (p.Gln26554Lys) c.79459C>A (p.Gln26487Lys) c.79084C>A (p.Gln26362Lys) c.106279C>A (p.Gln35427Lys) c.101356C>A (p.Gln33786Lys) n.446+6700G>T n.220-5396G>T c.105376C>A (p.Gln35126Lys) c.79270C>A (p.Gln26424Lys) c.79129C>A (p.Gln26377Lys) c.105172C>A (p.Gln35058Lys) c.100570C>A (p.Gln33524Lys) c.100567C>A (p.Gln33523Lys) c.97609C>A (p.Gln32537Lys) c.79225C>A (p.Gln26409Lys) c.100720C>A (p.Gln33574Lys) c.100717C>A (p.Gln33573Lys) c.100150C>A (p.Gln33384Lys) c.97492C>A (p.Gln32498Lys) c.97411C>A (p.Gln32471Lys) c.79174C>A (p.Gln26392Lys) c.69028C>A (p.Gln23010Lys) | |
2 | g.178530337C>A | CA349406345 | TTN,TTN-AS1 | c.98574G>T (p.Leu32858Phe) c.79659G>T (p.Leu26553Phe) c.79458G>T (p.Leu26486Phe) c.79083G>T (p.Leu26361Phe) c.106278G>T (p.Leu35426Phe) c.101355G>T (p.Leu33785Phe) n.446+6701C>A n.220-5395C>A c.105375G>T (p.Leu35125Phe) c.79269G>T (p.Leu26423Phe) c.79128G>T (p.Leu26376Phe) c.105171G>T (p.Leu35057Phe) c.100569G>T (p.Leu33523Phe) c.100566G>T (p.Leu33522Phe) c.97608G>T (p.Leu32536Phe) c.79224G>T (p.Leu26408Phe) c.100719G>T (p.Leu33573Phe) c.100716G>T (p.Leu33572Phe) c.100149G>T (p.Leu33383Phe) c.97491G>T (p.Leu32497Phe) c.97410G>T (p.Leu32470Phe) c.79173G>T (p.Leu26391Phe) c.69027G>T (p.Leu23009Phe) | |
2 | g.178530337C>G | CA349406347 | TTN,TTN-AS1 | c.98574G>C (p.Leu32858Phe) c.79659G>C (p.Leu26553Phe) c.79458G>C (p.Leu26486Phe) c.79083G>C (p.Leu26361Phe) c.106278G>C (p.Leu35426Phe) c.101355G>C (p.Leu33785Phe) n.446+6701C>G n.220-5395C>G c.105375G>C (p.Leu35125Phe) c.79269G>C (p.Leu26423Phe) c.79128G>C (p.Leu26376Phe) c.105171G>C (p.Leu35057Phe) c.100569G>C (p.Leu33523Phe) c.100566G>C (p.Leu33522Phe) c.97608G>C (p.Leu32536Phe) c.79224G>C (p.Leu26408Phe) c.100719G>C (p.Leu33573Phe) c.100716G>C (p.Leu33572Phe) c.100149G>C (p.Leu33383Phe) c.97491G>C (p.Leu32497Phe) c.97410G>C (p.Leu32470Phe) c.79173G>C (p.Leu26391Phe) c.69027G>C (p.Leu23009Phe) | |
2 | g.178530337C>T | CA430235167 | TTN,TTN-AS1 | c.98574G>A (p.Leu32858=) c.79659G>A (p.Leu26553=) c.79458G>A (p.Leu26486=) c.79083G>A (p.Leu26361=) c.106278G>A (p.Leu35426=) c.101355G>A (p.Leu33785=) n.446+6701C>T n.220-5395C>T c.105375G>A (p.Leu35125=) c.79269G>A (p.Leu26423=) c.79128G>A (p.Leu26376=) c.105171G>A (p.Leu35057=) c.100569G>A (p.Leu33523=) c.100566G>A (p.Leu33522=) c.97608G>A (p.Leu32536=) c.79224G>A (p.Leu26408=) c.100719G>A (p.Leu33573=) c.100716G>A (p.Leu33572=) c.100149G>A (p.Leu33383=) c.97491G>A (p.Leu32497=) c.97410G>A (p.Leu32470=) c.79173G>A (p.Leu26391=) c.69027G>A (p.Leu23009=) | |
2 | g.178530337_178530338dup | CA1039711495 | TTN,TTN-AS1 | c.98573_98574dup (p.Gln32859CysfsTer?) c.79658_79659dup (p.Gln26554CysfsTer?) c.79457_79458dup (p.Gln26487CysfsTer?) c.79082_79083dup (p.Gln26362CysfsTer?) c.106277_106278dup (p.Gln35427CysfsTer?) c.101354_101355dup (p.Gln33786CysfsTer?) n.446+6701_446+6702dup n.220-5395_220-5394dup c.105374_105375dup (p.Gln35126CysfsTer?) c.79268_79269dup (p.Gln26424CysfsTer?) c.79127_79128dup (p.Gln26377CysfsTer?) c.105170_105171dup (p.Gln35058CysfsTer?) c.100568_100569dup (p.Gln33524CysfsTer?) c.100565_100566dup (p.Gln33523CysfsTer?) c.97607_97608dup (p.Gln32537CysfsTer?) c.79223_79224dup (p.Gln26409CysfsTer?) c.100718_100719dup (p.Gln33574CysfsTer?) c.100715_100716dup (p.Gln33573CysfsTer?) c.100148_100149dup (p.Gln33384CysfsTer?) c.97490_97491dup (p.Gln32498CysfsTer?) c.97409_97410dup (p.Gln32471CysfsTer?) c.79172_79173dup (p.Gln26392CysfsTer?) c.69026_69027dup (p.Gln23010CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530338A>C | CA349406349 | TTN,TTN-AS1 | c.98573T>G (p.Leu32858Trp) c.79658T>G (p.Leu26553Trp) c.79457T>G (p.Leu26486Trp) c.79082T>G (p.Leu26361Trp) c.106277T>G (p.Leu35426Trp) c.101354T>G (p.Leu33785Trp) n.446+6702A>C n.220-5394A>C c.105374T>G (p.Leu35125Trp) c.79268T>G (p.Leu26423Trp) c.79127T>G (p.Leu26376Trp) c.105170T>G (p.Leu35057Trp) c.100568T>G (p.Leu33523Trp) c.100565T>G (p.Leu33522Trp) c.97607T>G (p.Leu32536Trp) c.79223T>G (p.Leu26408Trp) c.100718T>G (p.Leu33573Trp) c.100715T>G (p.Leu33572Trp) c.100148T>G (p.Leu33383Trp) c.97490T>G (p.Leu32497Trp) c.97409T>G (p.Leu32470Trp) c.79172T>G (p.Leu26391Trp) c.69026T>G (p.Leu23009Trp) | |
2 | g.178530338A>G | CA349406351 | TTN,TTN-AS1 | c.98573T>C (p.Leu32858Ser) c.79658T>C (p.Leu26553Ser) c.79457T>C (p.Leu26486Ser) c.79082T>C (p.Leu26361Ser) c.106277T>C (p.Leu35426Ser) c.101354T>C (p.Leu33785Ser) n.446+6702A>G n.220-5394A>G c.105374T>C (p.Leu35125Ser) c.79268T>C (p.Leu26423Ser) c.79127T>C (p.Leu26376Ser) c.105170T>C (p.Leu35057Ser) c.100568T>C (p.Leu33523Ser) c.100565T>C (p.Leu33522Ser) c.97607T>C (p.Leu32536Ser) c.79223T>C (p.Leu26408Ser) c.100718T>C (p.Leu33573Ser) c.100715T>C (p.Leu33572Ser) c.100148T>C (p.Leu33383Ser) c.97490T>C (p.Leu32497Ser) c.97409T>C (p.Leu32470Ser) c.79172T>C (p.Leu26391Ser) c.69026T>C (p.Leu23009Ser) | gnomAD v4 |
2 | g.178530338A>T | CA349406353 | TTN,TTN-AS1 | c.98573T>A (p.Leu32858Ter) c.79658T>A (p.Leu26553Ter) c.79457T>A (p.Leu26486Ter) c.79082T>A (p.Leu26361Ter) c.106277T>A (p.Leu35426Ter) c.101354T>A (p.Leu33785Ter) n.446+6702A>T n.220-5394A>T c.105374T>A (p.Leu35125Ter) c.79268T>A (p.Leu26423Ter) c.79127T>A (p.Leu26376Ter) c.105170T>A (p.Leu35057Ter) c.100568T>A (p.Leu33523Ter) c.100565T>A (p.Leu33522Ter) c.97607T>A (p.Leu32536Ter) c.79223T>A (p.Leu26408Ter) c.100718T>A (p.Leu33573Ter) c.100715T>A (p.Leu33572Ter) c.100148T>A (p.Leu33383Ter) c.97490T>A (p.Leu32497Ter) c.97409T>A (p.Leu32470Ter) c.79172T>A (p.Leu26391Ter) c.69026T>A (p.Leu23009Ter) | |
2 | g.178530339del | CA2662125679 | TTN,TTN-AS1 | c.98573del (p.Leu32858CysfsTer?) c.79658del (p.Leu26553CysfsTer?) c.79457del (p.Leu26486CysfsTer?) c.79082del (p.Leu26361CysfsTer?) c.106277del (p.Leu35426CysfsTer?) c.101354del (p.Leu33785CysfsTer?) n.446+6703del n.220-5393del c.105374del (p.Leu35125CysfsTer?) c.79268del (p.Leu26423CysfsTer?) c.79127del (p.Leu26376CysfsTer?) c.105170del (p.Leu35057CysfsTer?) c.100568del (p.Leu33523CysfsTer?) c.100565del (p.Leu33522CysfsTer?) c.97607del (p.Leu32536CysfsTer?) c.79223del (p.Leu26408CysfsTer?) c.100718del (p.Leu33573CysfsTer?) c.100715del (p.Leu33572CysfsTer?) c.100148del (p.Leu33383CysfsTer?) c.97490del (p.Leu32497CysfsTer?) c.97409del (p.Leu32470CysfsTer?) c.79172del (p.Leu26391CysfsTer?) c.69026del (p.Leu23009CysfsTer?) | gnomAD v4 |
2 | g.178530339A= | CA1310514525 | TTN,TTN-AS1 | c.98572T= (p.Leu32858=) c.79657T= (p.Leu26553=) c.79456T= (p.Leu26486=) c.79081T= (p.Leu26361=) c.106276T= (p.Leu35426=) c.101353T= (p.Leu33785=) n.446+6703A= n.220-5393A= c.105373T= (p.Leu35125=) c.79267T= (p.Leu26423=) c.79126T= (p.Leu26376=) c.105169T= (p.Leu35057=) c.100567T= (p.Leu33523=) c.100564T= (p.Leu33522=) c.97606T= (p.Leu32536=) c.79222T= (p.Leu26408=) c.100717T= (p.Leu33573=) c.100714T= (p.Leu33572=) c.100147T= (p.Leu33383=) c.97489T= (p.Leu32497=) c.97408T= (p.Leu32470=) c.79171T= (p.Leu26391=) c.69025T= (p.Leu23009=) | |
2 | g.178530339A>C | CA349406354 | TTN,TTN-AS1 | c.98572T>G (p.Leu32858Val) c.79657T>G (p.Leu26553Val) c.79456T>G (p.Leu26486Val) c.79081T>G (p.Leu26361Val) c.106276T>G (p.Leu35426Val) c.101353T>G (p.Leu33785Val) n.446+6703A>C n.220-5393A>C c.105373T>G (p.Leu35125Val) c.79267T>G (p.Leu26423Val) c.79126T>G (p.Leu26376Val) c.105169T>G (p.Leu35057Val) c.100567T>G (p.Leu33523Val) c.100564T>G (p.Leu33522Val) c.97606T>G (p.Leu32536Val) c.79222T>G (p.Leu26408Val) c.100717T>G (p.Leu33573Val) c.100714T>G (p.Leu33572Val) c.100147T>G (p.Leu33383Val) c.97489T>G (p.Leu32497Val) c.97408T>G (p.Leu32470Val) c.79171T>G (p.Leu26391Val) c.69025T>G (p.Leu23009Val) | dbSNP |
2 | g.178530339A>G | CA430235169 | TTN,TTN-AS1 | c.98572T>C (p.Leu32858=) c.79657T>C (p.Leu26553=) c.79456T>C (p.Leu26486=) c.79081T>C (p.Leu26361=) c.106276T>C (p.Leu35426=) c.101353T>C (p.Leu33785=) n.446+6703A>G n.220-5393A>G c.105373T>C (p.Leu35125=) c.79267T>C (p.Leu26423=) c.79126T>C (p.Leu26376=) c.105169T>C (p.Leu35057=) c.100567T>C (p.Leu33523=) c.100564T>C (p.Leu33522=) c.97606T>C (p.Leu32536=) c.79222T>C (p.Leu26408=) c.100717T>C (p.Leu33573=) c.100714T>C (p.Leu33572=) c.100147T>C (p.Leu33383=) c.97489T>C (p.Leu32497=) c.97408T>C (p.Leu32470=) c.79171T>C (p.Leu26391=) c.69025T>C (p.Leu23009=) | |
2 | g.178530339A>T | CA349406356 | TTN,TTN-AS1 | c.98572T>A (p.Leu32858Met) c.79657T>A (p.Leu26553Met) c.79456T>A (p.Leu26486Met) c.79081T>A (p.Leu26361Met) c.106276T>A (p.Leu35426Met) c.101353T>A (p.Leu33785Met) n.446+6703A>T n.220-5393A>T c.105373T>A (p.Leu35125Met) c.79267T>A (p.Leu26423Met) c.79126T>A (p.Leu26376Met) c.105169T>A (p.Leu35057Met) c.100567T>A (p.Leu33523Met) c.100564T>A (p.Leu33522Met) c.97606T>A (p.Leu32536Met) c.79222T>A (p.Leu26408Met) c.100717T>A (p.Leu33573Met) c.100714T>A (p.Leu33572Met) c.100147T>A (p.Leu33383Met) c.97489T>A (p.Leu32497Met) c.97408T>A (p.Leu32470Met) c.79171T>A (p.Leu26391Met) c.69025T>A (p.Leu23009Met) | |
2 | g.178530340C>A | CA430235171 | TTN,TTN-AS1 | c.98571G>T (p.Gly32857=) c.79656G>T (p.Gly26552=) c.79455G>T (p.Gly26485=) c.79080G>T (p.Gly26360=) c.106275G>T (p.Gly35425=) c.101352G>T (p.Gly33784=) n.446+6704C>A n.220-5392C>A c.105372G>T (p.Gly35124=) c.79266G>T (p.Gly26422=) c.79125G>T (p.Gly26375=) c.105168G>T (p.Gly35056=) c.100566G>T (p.Gly33522=) c.100563G>T (p.Gly33521=) c.97605G>T (p.Gly32535=) c.79221G>T (p.Gly26407=) c.100716G>T (p.Gly33572=) c.100713G>T (p.Gly33571=) c.100146G>T (p.Gly33382=) c.97488G>T (p.Gly32496=) c.97407G>T (p.Gly32469=) c.79170G>T (p.Gly26390=) c.69024G>T (p.Gly23008=) | |
2 | g.178530340C= | CA1310514529 | TTN,TTN-AS1 | c.98571G= (p.Gly32857=) c.79656G= (p.Gly26552=) c.79455G= (p.Gly26485=) c.79080G= (p.Gly26360=) c.106275G= (p.Gly35425=) c.101352G= (p.Gly33784=) n.446+6704C= n.220-5392C= c.105372G= (p.Gly35124=) c.79266G= (p.Gly26422=) c.79125G= (p.Gly26375=) c.105168G= (p.Gly35056=) c.100566G= (p.Gly33522=) c.100563G= (p.Gly33521=) c.97605G= (p.Gly32535=) c.79221G= (p.Gly26407=) c.100716G= (p.Gly33572=) c.100713G= (p.Gly33571=) c.100146G= (p.Gly33382=) c.97488G= (p.Gly32496=) c.97407G= (p.Gly32469=) c.79170G= (p.Gly26390=) c.69024G= (p.Gly23008=) | |
2 | g.178530340C>G | CA284370 | TTN,TTN-AS1 | c.98571G>C (p.Gly32857=) c.79656G>C (p.Gly26552=) c.79455G>C (p.Gly26485=) c.79080G>C (p.Gly26360=) c.106275G>C (p.Gly35425=) c.101352G>C (p.Gly33784=) n.446+6704C>G n.220-5392C>G c.105372G>C (p.Gly35124=) c.79266G>C (p.Gly26422=) c.79125G>C (p.Gly26375=) c.105168G>C (p.Gly35056=) c.100566G>C (p.Gly33522=) c.100563G>C (p.Gly33521=) c.97605G>C (p.Gly32535=) c.79221G>C (p.Gly26407=) c.100716G>C (p.Gly33572=) c.100713G>C (p.Gly33571=) c.100146G>C (p.Gly33382=) c.97488G>C (p.Gly32496=) c.97407G>C (p.Gly32469=) c.79170G>C (p.Gly26390=) c.69024G>C (p.Gly23008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530340C>T | CA430235174 | TTN,TTN-AS1 | c.98571G>A (p.Gly32857=) c.79656G>A (p.Gly26552=) c.79455G>A (p.Gly26485=) c.79080G>A (p.Gly26360=) c.106275G>A (p.Gly35425=) c.101352G>A (p.Gly33784=) n.446+6704C>T n.220-5392C>T c.105372G>A (p.Gly35124=) c.79266G>A (p.Gly26422=) c.79125G>A (p.Gly26375=) c.105168G>A (p.Gly35056=) c.100566G>A (p.Gly33522=) c.100563G>A (p.Gly33521=) c.97605G>A (p.Gly32535=) c.79221G>A (p.Gly26407=) c.100716G>A (p.Gly33572=) c.100713G>A (p.Gly33571=) c.100146G>A (p.Gly33382=) c.97488G>A (p.Gly32496=) c.97407G>A (p.Gly32469=) c.79170G>A (p.Gly26390=) c.69024G>A (p.Gly23008=) | gnomAD v4 |
2 | g.178530342del | CA2662125685 | TTN,TTN-AS1 | c.98571del (p.Leu32858CysfsTer?) c.79656del (p.Leu26553CysfsTer?) c.79455del (p.Leu26486CysfsTer?) c.79080del (p.Leu26361CysfsTer?) c.106275del (p.Leu35426CysfsTer?) c.101352del (p.Leu33785CysfsTer?) n.446+6706del n.220-5390del c.105372del (p.Leu35125CysfsTer?) c.79266del (p.Leu26423CysfsTer?) c.79125del (p.Leu26376CysfsTer?) c.105168del (p.Leu35057CysfsTer?) c.100566del (p.Leu33523CysfsTer?) c.100563del (p.Leu33522CysfsTer?) c.97605del (p.Leu32536CysfsTer?) c.79221del (p.Leu26408CysfsTer?) c.100716del (p.Leu33573CysfsTer?) c.100713del (p.Leu33572CysfsTer?) c.100146del (p.Leu33383CysfsTer?) c.97488del (p.Leu32497CysfsTer?) c.97407del (p.Leu32470CysfsTer?) c.79170del (p.Leu26391CysfsTer?) c.69024del (p.Leu23009CysfsTer?) | gnomAD v4 |
2 | g.178530341C>A | CA349406358 | TTN,TTN-AS1 | c.98570G>T (p.Gly32857Val) c.79655G>T (p.Gly26552Val) c.79454G>T (p.Gly26485Val) c.79079G>T (p.Gly26360Val) c.106274G>T (p.Gly35425Val) c.101351G>T (p.Gly33784Val) n.446+6705C>A n.220-5391C>A c.105371G>T (p.Gly35124Val) c.79265G>T (p.Gly26422Val) c.79124G>T (p.Gly26375Val) c.105167G>T (p.Gly35056Val) c.100565G>T (p.Gly33522Val) c.100562G>T (p.Gly33521Val) c.97604G>T (p.Gly32535Val) c.79220G>T (p.Gly26407Val) c.100715G>T (p.Gly33572Val) c.100712G>T (p.Gly33571Val) c.100145G>T (p.Gly33382Val) c.97487G>T (p.Gly32496Val) c.97406G>T (p.Gly32469Val) c.79169G>T (p.Gly26390Val) c.69023G>T (p.Gly23008Val) | |
2 | g.178530341C= | CA1310514532 | TTN,TTN-AS1 | c.98570G= (p.Gly32857=) c.79655G= (p.Gly26552=) c.79454G= (p.Gly26485=) c.79079G= (p.Gly26360=) c.106274G= (p.Gly35425=) c.101351G= (p.Gly33784=) n.446+6705C= n.220-5391C= c.105371G= (p.Gly35124=) c.79265G= (p.Gly26422=) c.79124G= (p.Gly26375=) c.105167G= (p.Gly35056=) c.100565G= (p.Gly33522=) c.100562G= (p.Gly33521=) c.97604G= (p.Gly32535=) c.79220G= (p.Gly26407=) c.100715G= (p.Gly33572=) c.100712G= (p.Gly33571=) c.100145G= (p.Gly33382=) c.97487G= (p.Gly32496=) c.97406G= (p.Gly32469=) c.79169G= (p.Gly26390=) c.69023G= (p.Gly23008=) | |
2 | g.178530341C>G | CA349406360 | TTN,TTN-AS1 | c.98570G>C (p.Gly32857Ala) c.79655G>C (p.Gly26552Ala) c.79454G>C (p.Gly26485Ala) c.79079G>C (p.Gly26360Ala) c.106274G>C (p.Gly35425Ala) c.101351G>C (p.Gly33784Ala) n.446+6705C>G n.220-5391C>G c.105371G>C (p.Gly35124Ala) c.79265G>C (p.Gly26422Ala) c.79124G>C (p.Gly26375Ala) c.105167G>C (p.Gly35056Ala) c.100565G>C (p.Gly33522Ala) c.100562G>C (p.Gly33521Ala) c.97604G>C (p.Gly32535Ala) c.79220G>C (p.Gly26407Ala) c.100715G>C (p.Gly33572Ala) c.100712G>C (p.Gly33571Ala) c.100145G>C (p.Gly33382Ala) c.97487G>C (p.Gly32496Ala) c.97406G>C (p.Gly32469Ala) c.79169G>C (p.Gly26390Ala) c.69023G>C (p.Gly23008Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530341C>T | CA349406359 | TTN,TTN-AS1 | c.98570G>A (p.Gly32857Glu) c.79655G>A (p.Gly26552Glu) c.79454G>A (p.Gly26485Glu) c.79079G>A (p.Gly26360Glu) c.106274G>A (p.Gly35425Glu) c.101351G>A (p.Gly33784Glu) n.446+6705C>T n.220-5391C>T c.105371G>A (p.Gly35124Glu) c.79265G>A (p.Gly26422Glu) c.79124G>A (p.Gly26375Glu) c.105167G>A (p.Gly35056Glu) c.100565G>A (p.Gly33522Glu) c.100562G>A (p.Gly33521Glu) c.97604G>A (p.Gly32535Glu) c.79220G>A (p.Gly26407Glu) c.100715G>A (p.Gly33572Glu) c.100712G>A (p.Gly33571Glu) c.100145G>A (p.Gly33382Glu) c.97487G>A (p.Gly32496Glu) c.97406G>A (p.Gly32469Glu) c.79169G>A (p.Gly26390Glu) c.69023G>A (p.Gly23008Glu) | ClinVar dbSNP |
2 | g.178530342C>A | CA349406362 | TTN,TTN-AS1 | c.98569G>T (p.Gly32857Trp) c.79654G>T (p.Gly26552Trp) c.79453G>T (p.Gly26485Trp) c.79078G>T (p.Gly26360Trp) c.106273G>T (p.Gly35425Trp) c.101350G>T (p.Gly33784Trp) n.446+6706C>A n.220-5390C>A c.105370G>T (p.Gly35124Trp) c.79264G>T (p.Gly26422Trp) c.79123G>T (p.Gly26375Trp) c.105166G>T (p.Gly35056Trp) c.100564G>T (p.Gly33522Trp) c.100561G>T (p.Gly33521Trp) c.97603G>T (p.Gly32535Trp) c.79219G>T (p.Gly26407Trp) c.100714G>T (p.Gly33572Trp) c.100711G>T (p.Gly33571Trp) c.100144G>T (p.Gly33382Trp) c.97486G>T (p.Gly32496Trp) c.97405G>T (p.Gly32469Trp) c.79168G>T (p.Gly26390Trp) c.69022G>T (p.Gly23008Trp) | |
2 | g.178530342C= | CA1310514534 | TTN,TTN-AS1 | c.98569G= (p.Gly32857=) c.79654G= (p.Gly26552=) c.79453G= (p.Gly26485=) c.79078G= (p.Gly26360=) c.106273G= (p.Gly35425=) c.101350G= (p.Gly33784=) n.446+6706C= n.220-5390C= c.105370G= (p.Gly35124=) c.79264G= (p.Gly26422=) c.79123G= (p.Gly26375=) c.105166G= (p.Gly35056=) c.100564G= (p.Gly33522=) c.100561G= (p.Gly33521=) c.97603G= (p.Gly32535=) c.79219G= (p.Gly26407=) c.100714G= (p.Gly33572=) c.100711G= (p.Gly33571=) c.100144G= (p.Gly33382=) c.97486G= (p.Gly32496=) c.97405G= (p.Gly32469=) c.79168G= (p.Gly26390=) c.69022G= (p.Gly23008=) | |
2 | g.178530342C>G | CA1985138 | TTN,TTN-AS1 | c.98569G>C (p.Gly32857Arg) c.79654G>C (p.Gly26552Arg) c.79453G>C (p.Gly26485Arg) c.79078G>C (p.Gly26360Arg) c.106273G>C (p.Gly35425Arg) c.101350G>C (p.Gly33784Arg) n.446+6706C>G n.220-5390C>G c.105370G>C (p.Gly35124Arg) c.79264G>C (p.Gly26422Arg) c.79123G>C (p.Gly26375Arg) c.105166G>C (p.Gly35056Arg) c.100564G>C (p.Gly33522Arg) c.100561G>C (p.Gly33521Arg) c.97603G>C (p.Gly32535Arg) c.79219G>C (p.Gly26407Arg) c.100714G>C (p.Gly33572Arg) c.100711G>C (p.Gly33571Arg) c.100144G>C (p.Gly33382Arg) c.97486G>C (p.Gly32496Arg) c.97405G>C (p.Gly32469Arg) c.79168G>C (p.Gly26390Arg) c.69022G>C (p.Gly23008Arg) | dbSNP ExAC gnomAD v2 |
2 | g.178530342C>T | CA349406365 | TTN,TTN-AS1 | c.98569G>A (p.Gly32857Arg) c.79654G>A (p.Gly26552Arg) c.79453G>A (p.Gly26485Arg) c.79078G>A (p.Gly26360Arg) c.106273G>A (p.Gly35425Arg) c.101350G>A (p.Gly33784Arg) n.446+6706C>T n.220-5390C>T c.105370G>A (p.Gly35124Arg) c.79264G>A (p.Gly26422Arg) c.79123G>A (p.Gly26375Arg) c.105166G>A (p.Gly35056Arg) c.100564G>A (p.Gly33522Arg) c.100561G>A (p.Gly33521Arg) c.97603G>A (p.Gly32535Arg) c.79219G>A (p.Gly26407Arg) c.100714G>A (p.Gly33572Arg) c.100711G>A (p.Gly33571Arg) c.100144G>A (p.Gly33382Arg) c.97486G>A (p.Gly32496Arg) c.97405G>A (p.Gly32469Arg) c.79168G>A (p.Gly26390Arg) c.69022G>A (p.Gly23008Arg) | ClinVar |
2 | g.178530343A= | CA1310514536 | TTN,TTN-AS1 | c.98568T= (p.Thr32856=) c.79653T= (p.Thr26551=) c.79452T= (p.Thr26484=) c.79077T= (p.Thr26359=) c.106272T= (p.Thr35424=) c.101349T= (p.Thr33783=) n.446+6707A= n.220-5389A= c.105369T= (p.Thr35123=) c.79263T= (p.Thr26421=) c.79122T= (p.Thr26374=) c.105165T= (p.Thr35055=) c.100563T= (p.Thr33521=) c.100560T= (p.Thr33520=) c.97602T= (p.Thr32534=) c.79218T= (p.Thr26406=) c.100713T= (p.Thr33571=) c.100710T= (p.Thr33570=) c.100143T= (p.Thr33381=) c.97485T= (p.Thr32495=) c.97404T= (p.Thr32468=) c.79167T= (p.Thr26389=) c.69021T= (p.Thr23007=) | |
2 | g.178530343A>C | CA1985139 | TTN,TTN-AS1 | c.98568T>G (p.Thr32856=) c.79653T>G (p.Thr26551=) c.79452T>G (p.Thr26484=) c.79077T>G (p.Thr26359=) c.106272T>G (p.Thr35424=) c.101349T>G (p.Thr33783=) n.446+6707A>C n.220-5389A>C c.105369T>G (p.Thr35123=) c.79263T>G (p.Thr26421=) c.79122T>G (p.Thr26374=) c.105165T>G (p.Thr35055=) c.100563T>G (p.Thr33521=) c.100560T>G (p.Thr33520=) c.97602T>G (p.Thr32534=) c.79218T>G (p.Thr26406=) c.100713T>G (p.Thr33571=) c.100710T>G (p.Thr33570=) c.100143T>G (p.Thr33381=) c.97485T>G (p.Thr32495=) c.97404T>G (p.Thr32468=) c.79167T>G (p.Thr26389=) c.69021T>G (p.Thr23007=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530343A>G | CA430235179 | TTN,TTN-AS1 | c.98568T>C (p.Thr32856=) c.79653T>C (p.Thr26551=) c.79452T>C (p.Thr26484=) c.79077T>C (p.Thr26359=) c.106272T>C (p.Thr35424=) c.101349T>C (p.Thr33783=) n.446+6707A>G n.220-5389A>G c.105369T>C (p.Thr35123=) c.79263T>C (p.Thr26421=) c.79122T>C (p.Thr26374=) c.105165T>C (p.Thr35055=) c.100563T>C (p.Thr33521=) c.100560T>C (p.Thr33520=) c.97602T>C (p.Thr32534=) c.79218T>C (p.Thr26406=) c.100713T>C (p.Thr33571=) c.100710T>C (p.Thr33570=) c.100143T>C (p.Thr33381=) c.97485T>C (p.Thr32495=) c.97404T>C (p.Thr32468=) c.79167T>C (p.Thr26389=) c.69021T>C (p.Thr23007=) | gnomAD v4 |
2 | g.178530343A>T | CA430235181 | TTN,TTN-AS1 | c.98568T>A (p.Thr32856=) c.79653T>A (p.Thr26551=) c.79452T>A (p.Thr26484=) c.79077T>A (p.Thr26359=) c.106272T>A (p.Thr35424=) c.101349T>A (p.Thr33783=) n.446+6707A>T n.220-5389A>T c.105369T>A (p.Thr35123=) c.79263T>A (p.Thr26421=) c.79122T>A (p.Thr26374=) c.105165T>A (p.Thr35055=) c.100563T>A (p.Thr33521=) c.100560T>A (p.Thr33520=) c.97602T>A (p.Thr32534=) c.79218T>A (p.Thr26406=) c.100713T>A (p.Thr33571=) c.100710T>A (p.Thr33570=) c.100143T>A (p.Thr33381=) c.97485T>A (p.Thr32495=) c.97404T>A (p.Thr32468=) c.79167T>A (p.Thr26389=) c.69021T>A (p.Thr23007=) | ClinVar |
2 | g.178530344G>A | CA349406367 | TTN,TTN-AS1 | c.98567C>T (p.Thr32856Ile) c.79652C>T (p.Thr26551Ile) c.79451C>T (p.Thr26484Ile) c.79076C>T (p.Thr26359Ile) c.106271C>T (p.Thr35424Ile) c.101348C>T (p.Thr33783Ile) n.446+6708G>A n.220-5388G>A c.105368C>T (p.Thr35123Ile) c.79262C>T (p.Thr26421Ile) c.79121C>T (p.Thr26374Ile) c.105164C>T (p.Thr35055Ile) c.100562C>T (p.Thr33521Ile) c.100559C>T (p.Thr33520Ile) c.97601C>T (p.Thr32534Ile) c.79217C>T (p.Thr26406Ile) c.100712C>T (p.Thr33571Ile) c.100709C>T (p.Thr33570Ile) c.100142C>T (p.Thr33381Ile) c.97484C>T (p.Thr32495Ile) c.97403C>T (p.Thr32468Ile) c.79166C>T (p.Thr26389Ile) c.69020C>T (p.Thr23007Ile) | |
2 | g.178530344G>C | CA349406369 | TTN,TTN-AS1 | c.98567C>G (p.Thr32856Ser) c.79652C>G (p.Thr26551Ser) c.79451C>G (p.Thr26484Ser) c.79076C>G (p.Thr26359Ser) c.106271C>G (p.Thr35424Ser) c.101348C>G (p.Thr33783Ser) n.446+6708G>C n.220-5388G>C c.105368C>G (p.Thr35123Ser) c.79262C>G (p.Thr26421Ser) c.79121C>G (p.Thr26374Ser) c.105164C>G (p.Thr35055Ser) c.100562C>G (p.Thr33521Ser) c.100559C>G (p.Thr33520Ser) c.97601C>G (p.Thr32534Ser) c.79217C>G (p.Thr26406Ser) c.100712C>G (p.Thr33571Ser) c.100709C>G (p.Thr33570Ser) c.100142C>G (p.Thr33381Ser) c.97484C>G (p.Thr32495Ser) c.97403C>G (p.Thr32468Ser) c.79166C>G (p.Thr26389Ser) c.69020C>G (p.Thr23007Ser) | |
2 | g.178530344G>T | CA349406370 | TTN,TTN-AS1 | c.98567C>A (p.Thr32856Asn) c.79652C>A (p.Thr26551Asn) c.79451C>A (p.Thr26484Asn) c.79076C>A (p.Thr26359Asn) c.106271C>A (p.Thr35424Asn) c.101348C>A (p.Thr33783Asn) n.446+6708G>T n.220-5388G>T c.105368C>A (p.Thr35123Asn) c.79262C>A (p.Thr26421Asn) c.79121C>A (p.Thr26374Asn) c.105164C>A (p.Thr35055Asn) c.100562C>A (p.Thr33521Asn) c.100559C>A (p.Thr33520Asn) c.97601C>A (p.Thr32534Asn) c.79217C>A (p.Thr26406Asn) c.100712C>A (p.Thr33571Asn) c.100709C>A (p.Thr33570Asn) c.100142C>A (p.Thr33381Asn) c.97484C>A (p.Thr32495Asn) c.97403C>A (p.Thr32468Asn) c.79166C>A (p.Thr26389Asn) c.69020C>A (p.Thr23007Asn) | |
2 | g.178530346_178530358del | CA2577170311 | TTN,TTN-AS1 | c.98555_98567del (p.Pro32852LeufsTer?) c.79640_79652del (p.Pro26547LeufsTer?) c.79439_79451del (p.Pro26480LeufsTer?) c.79064_79076del (p.Pro26355LeufsTer?) c.106259_106271del (p.Pro35420LeufsTer?) c.101336_101348del (p.Pro33779LeufsTer?) n.446+6710_446+6722del n.220-5386_220-5374del c.105356_105368del (p.Pro35119LeufsTer?) c.79250_79262del (p.Pro26417LeufsTer?) c.79109_79121del (p.Pro26370LeufsTer?) c.105152_105164del (p.Pro35051LeufsTer?) c.100550_100562del (p.Pro33517LeufsTer?) c.100547_100559del (p.Pro33516LeufsTer?) c.97589_97601del (p.Pro32530LeufsTer?) c.79205_79217del (p.Pro26402LeufsTer?) c.100700_100712del (p.Pro33567LeufsTer?) c.100697_100709del (p.Pro33566LeufsTer?) c.100130_100142del (p.Pro33377LeufsTer?) c.97472_97484del (p.Pro32491LeufsTer?) c.97391_97403del (p.Pro32464LeufsTer?) c.79154_79166del (p.Pro26385LeufsTer?) c.69008_69020del (p.Pro23003LeufsTer?) | ClinVar gnomAD v4 |
2 | g.178530345T>A | CA349406371 | TTN,TTN-AS1 | c.98566A>T (p.Thr32856Ser) c.79651A>T (p.Thr26551Ser) c.79450A>T (p.Thr26484Ser) c.79075A>T (p.Thr26359Ser) c.106270A>T (p.Thr35424Ser) c.101347A>T (p.Thr33783Ser) n.446+6709T>A n.220-5387T>A c.105367A>T (p.Thr35123Ser) c.79261A>T (p.Thr26421Ser) c.79120A>T (p.Thr26374Ser) c.105163A>T (p.Thr35055Ser) c.100561A>T (p.Thr33521Ser) c.100558A>T (p.Thr33520Ser) c.97600A>T (p.Thr32534Ser) c.79216A>T (p.Thr26406Ser) c.100711A>T (p.Thr33571Ser) c.100708A>T (p.Thr33570Ser) c.100141A>T (p.Thr33381Ser) c.97483A>T (p.Thr32495Ser) c.97402A>T (p.Thr32468Ser) c.79165A>T (p.Thr26389Ser) c.69019A>T (p.Thr23007Ser) | |
2 | g.178530345T>C | CA349406372 | TTN,TTN-AS1 | c.98566A>G (p.Thr32856Ala) c.79651A>G (p.Thr26551Ala) c.79450A>G (p.Thr26484Ala) c.79075A>G (p.Thr26359Ala) c.106270A>G (p.Thr35424Ala) c.101347A>G (p.Thr33783Ala) n.446+6709T>C n.220-5387T>C c.105367A>G (p.Thr35123Ala) c.79261A>G (p.Thr26421Ala) c.79120A>G (p.Thr26374Ala) c.105163A>G (p.Thr35055Ala) c.100561A>G (p.Thr33521Ala) c.100558A>G (p.Thr33520Ala) c.97600A>G (p.Thr32534Ala) c.79216A>G (p.Thr26406Ala) c.100711A>G (p.Thr33571Ala) c.100708A>G (p.Thr33570Ala) c.100141A>G (p.Thr33381Ala) c.97483A>G (p.Thr32495Ala) c.97402A>G (p.Thr32468Ala) c.79165A>G (p.Thr26389Ala) c.69019A>G (p.Thr23007Ala) | gnomAD v4 |
2 | g.178530345T>G | CA349406373 | TTN,TTN-AS1 | c.98566A>C (p.Thr32856Pro) c.79651A>C (p.Thr26551Pro) c.79450A>C (p.Thr26484Pro) c.79075A>C (p.Thr26359Pro) c.106270A>C (p.Thr35424Pro) c.101347A>C (p.Thr33783Pro) n.446+6709T>G n.220-5387T>G c.105367A>C (p.Thr35123Pro) c.79261A>C (p.Thr26421Pro) c.79120A>C (p.Thr26374Pro) c.105163A>C (p.Thr35055Pro) c.100561A>C (p.Thr33521Pro) c.100558A>C (p.Thr33520Pro) c.97600A>C (p.Thr32534Pro) c.79216A>C (p.Thr26406Pro) c.100711A>C (p.Thr33571Pro) c.100708A>C (p.Thr33570Pro) c.100141A>C (p.Thr33381Pro) c.97483A>C (p.Thr32495Pro) c.97402A>C (p.Thr32468Pro) c.79165A>C (p.Thr26389Pro) c.69019A>C (p.Thr23007Pro) | |
2 | g.178530346A>C | CA430235184 | TTN,TTN-AS1 | c.98565T>G (p.Val32855=) c.79650T>G (p.Val26550=) c.79449T>G (p.Val26483=) c.79074T>G (p.Val26358=) c.106269T>G (p.Val35423=) c.101346T>G (p.Val33782=) n.446+6710A>C n.220-5386A>C c.105366T>G (p.Val35122=) c.79260T>G (p.Val26420=) c.79119T>G (p.Val26373=) c.105162T>G (p.Val35054=) c.100560T>G (p.Val33520=) c.100557T>G (p.Val33519=) c.97599T>G (p.Val32533=) c.79215T>G (p.Val26405=) c.100710T>G (p.Val33570=) c.100707T>G (p.Val33569=) c.100140T>G (p.Val33380=) c.97482T>G (p.Val32494=) c.97401T>G (p.Val32467=) c.79164T>G (p.Val26388=) c.69018T>G (p.Val23006=) | |
2 | g.178530346A>G | CA430235187 | TTN,TTN-AS1 | c.98565T>C (p.Val32855=) c.79650T>C (p.Val26550=) c.79449T>C (p.Val26483=) c.79074T>C (p.Val26358=) c.106269T>C (p.Val35423=) c.101346T>C (p.Val33782=) n.446+6710A>G n.220-5386A>G c.105366T>C (p.Val35122=) c.79260T>C (p.Val26420=) c.79119T>C (p.Val26373=) c.105162T>C (p.Val35054=) c.100560T>C (p.Val33520=) c.100557T>C (p.Val33519=) c.97599T>C (p.Val32533=) c.79215T>C (p.Val26405=) c.100710T>C (p.Val33570=) c.100707T>C (p.Val33569=) c.100140T>C (p.Val33380=) c.97482T>C (p.Val32494=) c.97401T>C (p.Val32467=) c.79164T>C (p.Val26388=) c.69018T>C (p.Val23006=) | |
2 | g.178530346A>T | CA430235185 | TTN,TTN-AS1 | c.98565T>A (p.Val32855=) c.79650T>A (p.Val26550=) c.79449T>A (p.Val26483=) c.79074T>A (p.Val26358=) c.106269T>A (p.Val35423=) c.101346T>A (p.Val33782=) n.446+6710A>T n.220-5386A>T c.105366T>A (p.Val35122=) c.79260T>A (p.Val26420=) c.79119T>A (p.Val26373=) c.105162T>A (p.Val35054=) c.100560T>A (p.Val33520=) c.100557T>A (p.Val33519=) c.97599T>A (p.Val32533=) c.79215T>A (p.Val26405=) c.100710T>A (p.Val33570=) c.100707T>A (p.Val33569=) c.100140T>A (p.Val33380=) c.97482T>A (p.Val32494=) c.97401T>A (p.Val32467=) c.79164T>A (p.Val26388=) c.69018T>A (p.Val23006=) | |
2 | g.178530347A>C | CA349406376 | TTN,TTN-AS1 | c.98564T>G (p.Val32855Gly) c.79649T>G (p.Val26550Gly) c.79448T>G (p.Val26483Gly) c.79073T>G (p.Val26358Gly) c.106268T>G (p.Val35423Gly) c.101345T>G (p.Val33782Gly) n.446+6711A>C n.220-5385A>C c.105365T>G (p.Val35122Gly) c.79259T>G (p.Val26420Gly) c.79118T>G (p.Val26373Gly) c.105161T>G (p.Val35054Gly) c.100559T>G (p.Val33520Gly) c.100556T>G (p.Val33519Gly) c.97598T>G (p.Val32533Gly) c.79214T>G (p.Val26405Gly) c.100709T>G (p.Val33570Gly) c.100706T>G (p.Val33569Gly) c.100139T>G (p.Val33380Gly) c.97481T>G (p.Val32494Gly) c.97400T>G (p.Val32467Gly) c.79163T>G (p.Val26388Gly) c.69017T>G (p.Val23006Gly) | |
2 | g.178530347A>G | CA349406375 | TTN,TTN-AS1 | c.98564T>C (p.Val32855Ala) c.79649T>C (p.Val26550Ala) c.79448T>C (p.Val26483Ala) c.79073T>C (p.Val26358Ala) c.106268T>C (p.Val35423Ala) c.101345T>C (p.Val33782Ala) n.446+6711A>G n.220-5385A>G c.105365T>C (p.Val35122Ala) c.79259T>C (p.Val26420Ala) c.79118T>C (p.Val26373Ala) c.105161T>C (p.Val35054Ala) c.100559T>C (p.Val33520Ala) c.100556T>C (p.Val33519Ala) c.97598T>C (p.Val32533Ala) c.79214T>C (p.Val26405Ala) c.100709T>C (p.Val33570Ala) c.100706T>C (p.Val33569Ala) c.100139T>C (p.Val33380Ala) c.97481T>C (p.Val32494Ala) c.97400T>C (p.Val32467Ala) c.79163T>C (p.Val26388Ala) c.69017T>C (p.Val23006Ala) | |
2 | g.178530347A>T | CA349406374 | TTN,TTN-AS1 | c.98564T>A (p.Val32855Asp) c.79649T>A (p.Val26550Asp) c.79448T>A (p.Val26483Asp) c.79073T>A (p.Val26358Asp) c.106268T>A (p.Val35423Asp) c.101345T>A (p.Val33782Asp) n.446+6711A>T n.220-5385A>T c.105365T>A (p.Val35122Asp) c.79259T>A (p.Val26420Asp) c.79118T>A (p.Val26373Asp) c.105161T>A (p.Val35054Asp) c.100559T>A (p.Val33520Asp) c.100556T>A (p.Val33519Asp) c.97598T>A (p.Val32533Asp) c.79214T>A (p.Val26405Asp) c.100709T>A (p.Val33570Asp) c.100706T>A (p.Val33569Asp) c.100139T>A (p.Val33380Asp) c.97481T>A (p.Val32494Asp) c.97400T>A (p.Val32467Asp) c.79163T>A (p.Val26388Asp) c.69017T>A (p.Val23006Asp) | |
2 | g.178530348C>A | CA311255 | TTN,TTN-AS1 | c.98563G>T (p.Val32855Phe) c.79648G>T (p.Val26550Phe) c.79447G>T (p.Val26483Phe) c.79072G>T (p.Val26358Phe) c.106267G>T (p.Val35423Phe) c.101344G>T (p.Val33782Phe) n.446+6712C>A n.220-5384C>A c.105364G>T (p.Val35122Phe) c.79258G>T (p.Val26420Phe) c.79117G>T (p.Val26373Phe) c.105160G>T (p.Val35054Phe) c.100558G>T (p.Val33520Phe) c.100555G>T (p.Val33519Phe) c.97597G>T (p.Val32533Phe) c.79213G>T (p.Val26405Phe) c.100708G>T (p.Val33570Phe) c.100705G>T (p.Val33569Phe) c.100138G>T (p.Val33380Phe) c.97480G>T (p.Val32494Phe) c.97399G>T (p.Val32467Phe) c.79162G>T (p.Val26388Phe) c.69016G>T (p.Val23006Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530348C= | CA1310514538 | TTN,TTN-AS1 | c.98563G= (p.Val32855=) c.79648G= (p.Val26550=) c.79447G= (p.Val26483=) c.79072G= (p.Val26358=) c.106267G= (p.Val35423=) c.101344G= (p.Val33782=) n.446+6712C= n.220-5384C= c.105364G= (p.Val35122=) c.79258G= (p.Val26420=) c.79117G= (p.Val26373=) c.105160G= (p.Val35054=) c.100558G= (p.Val33520=) c.100555G= (p.Val33519=) c.97597G= (p.Val32533=) c.79213G= (p.Val26405=) c.100708G= (p.Val33570=) c.100705G= (p.Val33569=) c.100138G= (p.Val33380=) c.97480G= (p.Val32494=) c.97399G= (p.Val32467=) c.79162G= (p.Val26388=) c.69016G= (p.Val23006=) | |
2 | g.178530348C>G | CA349406377 | TTN,TTN-AS1 | c.98563G>C (p.Val32855Leu) c.79648G>C (p.Val26550Leu) c.79447G>C (p.Val26483Leu) c.79072G>C (p.Val26358Leu) c.106267G>C (p.Val35423Leu) c.101344G>C (p.Val33782Leu) n.446+6712C>G n.220-5384C>G c.105364G>C (p.Val35122Leu) c.79258G>C (p.Val26420Leu) c.79117G>C (p.Val26373Leu) c.105160G>C (p.Val35054Leu) c.100558G>C (p.Val33520Leu) c.100555G>C (p.Val33519Leu) c.97597G>C (p.Val32533Leu) c.79213G>C (p.Val26405Leu) c.100708G>C (p.Val33570Leu) c.100705G>C (p.Val33569Leu) c.100138G>C (p.Val33380Leu) c.97480G>C (p.Val32494Leu) c.97399G>C (p.Val32467Leu) c.79162G>C (p.Val26388Leu) c.69016G>C (p.Val23006Leu) | |
2 | g.178530348C>T | CA349406378 | TTN,TTN-AS1 | c.98563G>A (p.Val32855Ile) c.79648G>A (p.Val26550Ile) c.79447G>A (p.Val26483Ile) c.79072G>A (p.Val26358Ile) c.106267G>A (p.Val35423Ile) c.101344G>A (p.Val33782Ile) n.446+6712C>T n.220-5384C>T c.105364G>A (p.Val35122Ile) c.79258G>A (p.Val26420Ile) c.79117G>A (p.Val26373Ile) c.105160G>A (p.Val35054Ile) c.100558G>A (p.Val33520Ile) c.100555G>A (p.Val33519Ile) c.97597G>A (p.Val32533Ile) c.79213G>A (p.Val26405Ile) c.100708G>A (p.Val33570Ile) c.100705G>A (p.Val33569Ile) c.100138G>A (p.Val33380Ile) c.97480G>A (p.Val32494Ile) c.97399G>A (p.Val32467Ile) c.79162G>A (p.Val26388Ile) c.69016G>A (p.Val23006Ile) | |
2 | g.178530349A= | CA1310514539 | TTN,TTN-AS1 | c.98562T= (p.Ile32854=) c.79647T= (p.Ile26549=) c.79446T= (p.Ile26482=) c.79071T= (p.Ile26357=) c.106266T= (p.Ile35422=) c.101343T= (p.Ile33781=) n.446+6713A= n.220-5383A= c.105363T= (p.Ile35121=) c.79257T= (p.Ile26419=) c.79116T= (p.Ile26372=) c.105159T= (p.Ile35053=) c.100557T= (p.Ile33519=) c.100554T= (p.Ile33518=) c.97596T= (p.Ile32532=) c.79212T= (p.Ile26404=) c.100707T= (p.Ile33569=) c.100704T= (p.Ile33568=) c.100137T= (p.Ile33379=) c.97479T= (p.Ile32493=) c.97398T= (p.Ile32466=) c.79161T= (p.Ile26387=) c.69015T= (p.Ile23005=) | |
2 | g.178530349A>C | CA349406379 | TTN,TTN-AS1 | c.98562T>G (p.Ile32854Met) c.79647T>G (p.Ile26549Met) c.79446T>G (p.Ile26482Met) c.79071T>G (p.Ile26357Met) c.106266T>G (p.Ile35422Met) c.101343T>G (p.Ile33781Met) n.446+6713A>C n.220-5383A>C c.105363T>G (p.Ile35121Met) c.79257T>G (p.Ile26419Met) c.79116T>G (p.Ile26372Met) c.105159T>G (p.Ile35053Met) c.100557T>G (p.Ile33519Met) c.100554T>G (p.Ile33518Met) c.97596T>G (p.Ile32532Met) c.79212T>G (p.Ile26404Met) c.100707T>G (p.Ile33569Met) c.100704T>G (p.Ile33568Met) c.100137T>G (p.Ile33379Met) c.97479T>G (p.Ile32493Met) c.97398T>G (p.Ile32466Met) c.79161T>G (p.Ile26387Met) c.69015T>G (p.Ile23005Met) | |
2 | g.178530349A>G | CA430235190 | TTN,TTN-AS1 | c.98562T>C (p.Ile32854=) c.79647T>C (p.Ile26549=) c.79446T>C (p.Ile26482=) c.79071T>C (p.Ile26357=) c.106266T>C (p.Ile35422=) c.101343T>C (p.Ile33781=) n.446+6713A>G n.220-5383A>G c.105363T>C (p.Ile35121=) c.79257T>C (p.Ile26419=) c.79116T>C (p.Ile26372=) c.105159T>C (p.Ile35053=) c.100557T>C (p.Ile33519=) c.100554T>C (p.Ile33518=) c.97596T>C (p.Ile32532=) c.79212T>C (p.Ile26404=) c.100707T>C (p.Ile33569=) c.100704T>C (p.Ile33568=) c.100137T>C (p.Ile33379=) c.97479T>C (p.Ile32493=) c.97398T>C (p.Ile32466=) c.79161T>C (p.Ile26387=) c.69015T>C (p.Ile23005=) | gnomAD v4 |
2 | g.178530349A>T | CA430235191 | TTN,TTN-AS1 | c.98562T>A (p.Ile32854=) c.79647T>A (p.Ile26549=) c.79446T>A (p.Ile26482=) c.79071T>A (p.Ile26357=) c.106266T>A (p.Ile35422=) c.101343T>A (p.Ile33781=) n.446+6713A>T n.220-5383A>T c.105363T>A (p.Ile35121=) c.79257T>A (p.Ile26419=) c.79116T>A (p.Ile26372=) c.105159T>A (p.Ile35053=) c.100557T>A (p.Ile33519=) c.100554T>A (p.Ile33518=) c.97596T>A (p.Ile32532=) c.79212T>A (p.Ile26404=) c.100707T>A (p.Ile33569=) c.100704T>A (p.Ile33568=) c.100137T>A (p.Ile33379=) c.97479T>A (p.Ile32493=) c.97398T>A (p.Ile32466=) c.79161T>A (p.Ile26387=) c.69015T>A (p.Ile23005=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530350A= | CA1310514542 | TTN,TTN-AS1 | c.98561T= (p.Ile32854=) c.79646T= (p.Ile26549=) c.79445T= (p.Ile26482=) c.79070T= (p.Ile26357=) c.106265T= (p.Ile35422=) c.101342T= (p.Ile33781=) n.446+6714A= n.220-5382A= c.105362T= (p.Ile35121=) c.79256T= (p.Ile26419=) c.79115T= (p.Ile26372=) c.105158T= (p.Ile35053=) c.100556T= (p.Ile33519=) c.100553T= (p.Ile33518=) c.97595T= (p.Ile32532=) c.79211T= (p.Ile26404=) c.100706T= (p.Ile33569=) c.100703T= (p.Ile33568=) c.100136T= (p.Ile33379=) c.97478T= (p.Ile32493=) c.97397T= (p.Ile32466=) c.79160T= (p.Ile26387=) c.69014T= (p.Ile23005=) | |
2 | g.178530350A>C | CA349406380 | TTN,TTN-AS1 | c.98561T>G (p.Ile32854Ser) c.79646T>G (p.Ile26549Ser) c.79445T>G (p.Ile26482Ser) c.79070T>G (p.Ile26357Ser) c.106265T>G (p.Ile35422Ser) c.101342T>G (p.Ile33781Ser) n.446+6714A>C n.220-5382A>C c.105362T>G (p.Ile35121Ser) c.79256T>G (p.Ile26419Ser) c.79115T>G (p.Ile26372Ser) c.105158T>G (p.Ile35053Ser) c.100556T>G (p.Ile33519Ser) c.100553T>G (p.Ile33518Ser) c.97595T>G (p.Ile32532Ser) c.79211T>G (p.Ile26404Ser) c.100706T>G (p.Ile33569Ser) c.100703T>G (p.Ile33568Ser) c.100136T>G (p.Ile33379Ser) c.97478T>G (p.Ile32493Ser) c.97397T>G (p.Ile32466Ser) c.79160T>G (p.Ile26387Ser) c.69014T>G (p.Ile23005Ser) | |
2 | g.178530350A>G | CA349406381 | TTN,TTN-AS1 | c.98561T>C (p.Ile32854Thr) c.79646T>C (p.Ile26549Thr) c.79445T>C (p.Ile26482Thr) c.79070T>C (p.Ile26357Thr) c.106265T>C (p.Ile35422Thr) c.101342T>C (p.Ile33781Thr) n.446+6714A>G n.220-5382A>G c.105362T>C (p.Ile35121Thr) c.79256T>C (p.Ile26419Thr) c.79115T>C (p.Ile26372Thr) c.105158T>C (p.Ile35053Thr) c.100556T>C (p.Ile33519Thr) c.100553T>C (p.Ile33518Thr) c.97595T>C (p.Ile32532Thr) c.79211T>C (p.Ile26404Thr) c.100706T>C (p.Ile33569Thr) c.100703T>C (p.Ile33568Thr) c.100136T>C (p.Ile33379Thr) c.97478T>C (p.Ile32493Thr) c.97397T>C (p.Ile32466Thr) c.79160T>C (p.Ile26387Thr) c.69014T>C (p.Ile23005Thr) | ClinVar dbSNP |
2 | g.178530350A>T | CA349406382 | TTN,TTN-AS1 | c.98561T>A (p.Ile32854Asn) c.79646T>A (p.Ile26549Asn) c.79445T>A (p.Ile26482Asn) c.79070T>A (p.Ile26357Asn) c.106265T>A (p.Ile35422Asn) c.101342T>A (p.Ile33781Asn) n.446+6714A>T n.220-5382A>T c.105362T>A (p.Ile35121Asn) c.79256T>A (p.Ile26419Asn) c.79115T>A (p.Ile26372Asn) c.105158T>A (p.Ile35053Asn) c.100556T>A (p.Ile33519Asn) c.100553T>A (p.Ile33518Asn) c.97595T>A (p.Ile32532Asn) c.79211T>A (p.Ile26404Asn) c.100706T>A (p.Ile33569Asn) c.100703T>A (p.Ile33568Asn) c.100136T>A (p.Ile33379Asn) c.97478T>A (p.Ile32493Asn) c.97397T>A (p.Ile32466Asn) c.79160T>A (p.Ile26387Asn) c.69014T>A (p.Ile23005Asn) | |
2 | g.178530351T>A | CA349406383 | TTN,TTN-AS1 | c.98560A>T (p.Ile32854Phe) c.79645A>T (p.Ile26549Phe) c.79444A>T (p.Ile26482Phe) c.79069A>T (p.Ile26357Phe) c.106264A>T (p.Ile35422Phe) c.101341A>T (p.Ile33781Phe) n.446+6715T>A n.220-5381T>A c.105361A>T (p.Ile35121Phe) c.79255A>T (p.Ile26419Phe) c.79114A>T (p.Ile26372Phe) c.105157A>T (p.Ile35053Phe) c.100555A>T (p.Ile33519Phe) c.100552A>T (p.Ile33518Phe) c.97594A>T (p.Ile32532Phe) c.79210A>T (p.Ile26404Phe) c.100705A>T (p.Ile33569Phe) c.100702A>T (p.Ile33568Phe) c.100135A>T (p.Ile33379Phe) c.97477A>T (p.Ile32493Phe) c.97396A>T (p.Ile32466Phe) c.79159A>T (p.Ile26387Phe) c.69013A>T (p.Ile23005Phe) | |
2 | g.178530351T>C | CA349406384 | TTN,TTN-AS1 | c.98560A>G (p.Ile32854Val) c.79645A>G (p.Ile26549Val) c.79444A>G (p.Ile26482Val) c.79069A>G (p.Ile26357Val) c.106264A>G (p.Ile35422Val) c.101341A>G (p.Ile33781Val) n.446+6715T>C n.220-5381T>C c.105361A>G (p.Ile35121Val) c.79255A>G (p.Ile26419Val) c.79114A>G (p.Ile26372Val) c.105157A>G (p.Ile35053Val) c.100555A>G (p.Ile33519Val) c.100552A>G (p.Ile33518Val) c.97594A>G (p.Ile32532Val) c.79210A>G (p.Ile26404Val) c.100705A>G (p.Ile33569Val) c.100702A>G (p.Ile33568Val) c.100135A>G (p.Ile33379Val) c.97477A>G (p.Ile32493Val) c.97396A>G (p.Ile32466Val) c.79159A>G (p.Ile26387Val) c.69013A>G (p.Ile23005Val) | |
2 | g.178530351T>G | CA349406385 | TTN,TTN-AS1 | c.98560A>C (p.Ile32854Leu) c.79645A>C (p.Ile26549Leu) c.79444A>C (p.Ile26482Leu) c.79069A>C (p.Ile26357Leu) c.106264A>C (p.Ile35422Leu) c.101341A>C (p.Ile33781Leu) n.446+6715T>G n.220-5381T>G c.105361A>C (p.Ile35121Leu) c.79255A>C (p.Ile26419Leu) c.79114A>C (p.Ile26372Leu) c.105157A>C (p.Ile35053Leu) c.100555A>C (p.Ile33519Leu) c.100552A>C (p.Ile33518Leu) c.97594A>C (p.Ile32532Leu) c.79210A>C (p.Ile26404Leu) c.100705A>C (p.Ile33569Leu) c.100702A>C (p.Ile33568Leu) c.100135A>C (p.Ile33379Leu) c.97477A>C (p.Ile32493Leu) c.97396A>C (p.Ile32466Leu) c.79159A>C (p.Ile26387Leu) c.69013A>C (p.Ile23005Leu) | |
2 | g.178530352T>A | CA430235196 | TTN,TTN-AS1 | c.98559A>T (p.Val32853=) c.79644A>T (p.Val26548=) c.79443A>T (p.Val26481=) c.79068A>T (p.Val26356=) c.106263A>T (p.Val35421=) c.101340A>T (p.Val33780=) n.446+6716T>A n.220-5380T>A c.105360A>T (p.Val35120=) c.79254A>T (p.Val26418=) c.79113A>T (p.Val26371=) c.105156A>T (p.Val35052=) c.100554A>T (p.Val33518=) c.100551A>T (p.Val33517=) c.97593A>T (p.Val32531=) c.79209A>T (p.Val26403=) c.100704A>T (p.Val33568=) c.100701A>T (p.Val33567=) c.100134A>T (p.Val33378=) c.97476A>T (p.Val32492=) c.97395A>T (p.Val32465=) c.79158A>T (p.Val26386=) c.69012A>T (p.Val23004=) | |
2 | g.178530352T>C | CA430235197 | TTN,TTN-AS1 | c.98559A>G (p.Val32853=) c.79644A>G (p.Val26548=) c.79443A>G (p.Val26481=) c.79068A>G (p.Val26356=) c.106263A>G (p.Val35421=) c.101340A>G (p.Val33780=) n.446+6716T>C n.220-5380T>C c.105360A>G (p.Val35120=) c.79254A>G (p.Val26418=) c.79113A>G (p.Val26371=) c.105156A>G (p.Val35052=) c.100554A>G (p.Val33518=) c.100551A>G (p.Val33517=) c.97593A>G (p.Val32531=) c.79209A>G (p.Val26403=) c.100704A>G (p.Val33568=) c.100701A>G (p.Val33567=) c.100134A>G (p.Val33378=) c.97476A>G (p.Val32492=) c.97395A>G (p.Val32465=) c.79158A>G (p.Val26386=) c.69012A>G (p.Val23004=) | |
2 | g.178530352T>G | CA430235198 | TTN,TTN-AS1 | c.98559A>C (p.Val32853=) c.79644A>C (p.Val26548=) c.79443A>C (p.Val26481=) c.79068A>C (p.Val26356=) c.106263A>C (p.Val35421=) c.101340A>C (p.Val33780=) n.446+6716T>G n.220-5380T>G c.105360A>C (p.Val35120=) c.79254A>C (p.Val26418=) c.79113A>C (p.Val26371=) c.105156A>C (p.Val35052=) c.100554A>C (p.Val33518=) c.100551A>C (p.Val33517=) c.97593A>C (p.Val32531=) c.79209A>C (p.Val26403=) c.100704A>C (p.Val33568=) c.100701A>C (p.Val33567=) c.100134A>C (p.Val33378=) c.97476A>C (p.Val32492=) c.97395A>C (p.Val32465=) c.79158A>C (p.Val26386=) c.69012A>C (p.Val23004=) | |
2 | g.178530352T= | CA1310514543 | TTN,TTN-AS1 | c.98559A= (p.Val32853=) c.79644A= (p.Val26548=) c.79443A= (p.Val26481=) c.79068A= (p.Val26356=) c.106263A= (p.Val35421=) c.101340A= (p.Val33780=) n.446+6716T= n.220-5380T= c.105360A= (p.Val35120=) c.79254A= (p.Val26418=) c.79113A= (p.Val26371=) c.105156A= (p.Val35052=) c.100554A= (p.Val33518=) c.100551A= (p.Val33517=) c.97593A= (p.Val32531=) c.79209A= (p.Val26403=) c.100704A= (p.Val33568=) c.100701A= (p.Val33567=) c.100134A= (p.Val33378=) c.97476A= (p.Val32492=) c.97395A= (p.Val32465=) c.79158A= (p.Val26386=) c.69012A= (p.Val23004=) | |
2 | g.178530353A>C | CA349406386 | TTN,TTN-AS1 | c.98558T>G (p.Val32853Gly) c.79643T>G (p.Val26548Gly) c.79442T>G (p.Val26481Gly) c.79067T>G (p.Val26356Gly) c.106262T>G (p.Val35421Gly) c.101339T>G (p.Val33780Gly) n.446+6717A>C n.220-5379A>C c.105359T>G (p.Val35120Gly) c.79253T>G (p.Val26418Gly) c.79112T>G (p.Val26371Gly) c.105155T>G (p.Val35052Gly) c.100553T>G (p.Val33518Gly) c.100550T>G (p.Val33517Gly) c.97592T>G (p.Val32531Gly) c.79208T>G (p.Val26403Gly) c.100703T>G (p.Val33568Gly) c.100700T>G (p.Val33567Gly) c.100133T>G (p.Val33378Gly) c.97475T>G (p.Val32492Gly) c.97394T>G (p.Val32465Gly) c.79157T>G (p.Val26386Gly) c.69011T>G (p.Val23004Gly) | |
2 | g.178530353A>G | CA349406387 | TTN,TTN-AS1 | c.98558T>C (p.Val32853Ala) c.79643T>C (p.Val26548Ala) c.79442T>C (p.Val26481Ala) c.79067T>C (p.Val26356Ala) c.106262T>C (p.Val35421Ala) c.101339T>C (p.Val33780Ala) n.446+6717A>G n.220-5379A>G c.105359T>C (p.Val35120Ala) c.79253T>C (p.Val26418Ala) c.79112T>C (p.Val26371Ala) c.105155T>C (p.Val35052Ala) c.100553T>C (p.Val33518Ala) c.100550T>C (p.Val33517Ala) c.97592T>C (p.Val32531Ala) c.79208T>C (p.Val26403Ala) c.100703T>C (p.Val33568Ala) c.100700T>C (p.Val33567Ala) c.100133T>C (p.Val33378Ala) c.97475T>C (p.Val32492Ala) c.97394T>C (p.Val32465Ala) c.79157T>C (p.Val26386Ala) c.69011T>C (p.Val23004Ala) | |
2 | g.178530353A>T | CA349406388 | TTN,TTN-AS1 | c.98558T>A (p.Val32853Glu) c.79643T>A (p.Val26548Glu) c.79442T>A (p.Val26481Glu) c.79067T>A (p.Val26356Glu) c.106262T>A (p.Val35421Glu) c.101339T>A (p.Val33780Glu) n.446+6717A>T n.220-5379A>T c.105359T>A (p.Val35120Glu) c.79253T>A (p.Val26418Glu) c.79112T>A (p.Val26371Glu) c.105155T>A (p.Val35052Glu) c.100553T>A (p.Val33518Glu) c.100550T>A (p.Val33517Glu) c.97592T>A (p.Val32531Glu) c.79208T>A (p.Val26403Glu) c.100703T>A (p.Val33568Glu) c.100700T>A (p.Val33567Glu) c.100133T>A (p.Val33378Glu) c.97475T>A (p.Val32492Glu) c.97394T>A (p.Val32465Glu) c.79157T>A (p.Val26386Glu) c.69011T>A (p.Val23004Glu) | |
2 | g.178530353dup | CA1139657397 | TTN,TTN-AS1 | c.98558dup (p.Ile32854AsnfsTer17) c.79643dup (p.Ile26549AsnfsTer17) c.79442dup (p.Ile26482AsnfsTer17) c.79067dup (p.Ile26357AsnfsTer17) c.106262dup (p.Ile35422AsnfsTer17) c.101339dup (p.Ile33781AsnfsTer17) n.446+6717dup n.220-5379dup c.105359dup (p.Ile35121AsnfsTer17) c.79253dup (p.Ile26419AsnfsTer17) c.79112dup (p.Ile26372AsnfsTer17) c.105155dup (p.Ile35053AsnfsTer17) c.100553dup (p.Ile33519AsnfsTer17) c.100550dup (p.Ile33518AsnfsTer17) c.97592dup (p.Ile32532AsnfsTer17) c.79208dup (p.Ile26404AsnfsTer17) c.100703dup (p.Ile33569AsnfsTer17) c.100700dup (p.Ile33568AsnfsTer17) c.100133dup (p.Ile33379AsnfsTer17) c.97475dup (p.Ile32493AsnfsTer17) c.97394dup (p.Ile32466AsnfsTer17) c.79157dup (p.Ile26387AsnfsTer17) c.69011dup (p.Ile23005AsnfsTer17) | ClinVar dbSNP |
2 | g.178530354C>A | CA349406389 | TTN,TTN-AS1 | c.98557G>T (p.Val32853Leu) c.79642G>T (p.Val26548Leu) c.79441G>T (p.Val26481Leu) c.79066G>T (p.Val26356Leu) c.106261G>T (p.Val35421Leu) c.101338G>T (p.Val33780Leu) n.446+6718C>A n.220-5378C>A c.105358G>T (p.Val35120Leu) c.79252G>T (p.Val26418Leu) c.79111G>T (p.Val26371Leu) c.105154G>T (p.Val35052Leu) c.100552G>T (p.Val33518Leu) c.100549G>T (p.Val33517Leu) c.97591G>T (p.Val32531Leu) c.79207G>T (p.Val26403Leu) c.100702G>T (p.Val33568Leu) c.100699G>T (p.Val33567Leu) c.100132G>T (p.Val33378Leu) c.97474G>T (p.Val32492Leu) c.97393G>T (p.Val32465Leu) c.79156G>T (p.Val26386Leu) c.69010G>T (p.Val23004Leu) | |
2 | g.178530354C>G | CA349406391 | TTN,TTN-AS1 | c.98557G>C (p.Val32853Leu) c.79642G>C (p.Val26548Leu) c.79441G>C (p.Val26481Leu) c.79066G>C (p.Val26356Leu) c.106261G>C (p.Val35421Leu) c.101338G>C (p.Val33780Leu) n.446+6718C>G n.220-5378C>G c.105358G>C (p.Val35120Leu) c.79252G>C (p.Val26418Leu) c.79111G>C (p.Val26371Leu) c.105154G>C (p.Val35052Leu) c.100552G>C (p.Val33518Leu) c.100549G>C (p.Val33517Leu) c.97591G>C (p.Val32531Leu) c.79207G>C (p.Val26403Leu) c.100702G>C (p.Val33568Leu) c.100699G>C (p.Val33567Leu) c.100132G>C (p.Val33378Leu) c.97474G>C (p.Val32492Leu) c.97393G>C (p.Val32465Leu) c.79156G>C (p.Val26386Leu) c.69010G>C (p.Val23004Leu) | gnomAD v4 |
2 | g.178530354C>T | CA349406390 | TTN,TTN-AS1 | c.98557G>A (p.Val32853Ile) c.79642G>A (p.Val26548Ile) c.79441G>A (p.Val26481Ile) c.79066G>A (p.Val26356Ile) c.106261G>A (p.Val35421Ile) c.101338G>A (p.Val33780Ile) n.446+6718C>T n.220-5378C>T c.105358G>A (p.Val35120Ile) c.79252G>A (p.Val26418Ile) c.79111G>A (p.Val26371Ile) c.105154G>A (p.Val35052Ile) c.100552G>A (p.Val33518Ile) c.100549G>A (p.Val33517Ile) c.97591G>A (p.Val32531Ile) c.79207G>A (p.Val26403Ile) c.100702G>A (p.Val33568Ile) c.100699G>A (p.Val33567Ile) c.100132G>A (p.Val33378Ile) c.97474G>A (p.Val32492Ile) c.97393G>A (p.Val32465Ile) c.79156G>A (p.Val26386Ile) c.69010G>A (p.Val23004Ile) | |
2 | g.178530355T>A | CA430235201 | TTN,TTN-AS1 | c.98556A>T (p.Pro32852=) c.79641A>T (p.Pro26547=) c.79440A>T (p.Pro26480=) c.79065A>T (p.Pro26355=) c.106260A>T (p.Pro35420=) c.101337A>T (p.Pro33779=) n.446+6719T>A n.220-5377T>A c.105357A>T (p.Pro35119=) c.79251A>T (p.Pro26417=) c.79110A>T (p.Pro26370=) c.105153A>T (p.Pro35051=) c.100551A>T (p.Pro33517=) c.100548A>T (p.Pro33516=) c.97590A>T (p.Pro32530=) c.79206A>T (p.Pro26402=) c.100701A>T (p.Pro33567=) c.100698A>T (p.Pro33566=) c.100131A>T (p.Pro33377=) c.97473A>T (p.Pro32491=) c.97392A>T (p.Pro32464=) c.79155A>T (p.Pro26385=) c.69009A>T (p.Pro23003=) | |
2 | g.178530355T>C | CA430235202 | TTN,TTN-AS1 | c.98556A>G (p.Pro32852=) c.79641A>G (p.Pro26547=) c.79440A>G (p.Pro26480=) c.79065A>G (p.Pro26355=) c.106260A>G (p.Pro35420=) c.101337A>G (p.Pro33779=) n.446+6719T>C n.220-5377T>C c.105357A>G (p.Pro35119=) c.79251A>G (p.Pro26417=) c.79110A>G (p.Pro26370=) c.105153A>G (p.Pro35051=) c.100551A>G (p.Pro33517=) c.100548A>G (p.Pro33516=) c.97590A>G (p.Pro32530=) c.79206A>G (p.Pro26402=) c.100701A>G (p.Pro33567=) c.100698A>G (p.Pro33566=) c.100131A>G (p.Pro33377=) c.97473A>G (p.Pro32491=) c.97392A>G (p.Pro32464=) c.79155A>G (p.Pro26385=) c.69009A>G (p.Pro23003=) | |
2 | g.178530355T>G | CA430235203 | TTN,TTN-AS1 | c.98556A>C (p.Pro32852=) c.79641A>C (p.Pro26547=) c.79440A>C (p.Pro26480=) c.79065A>C (p.Pro26355=) c.106260A>C (p.Pro35420=) c.101337A>C (p.Pro33779=) n.446+6719T>G n.220-5377T>G c.105357A>C (p.Pro35119=) c.79251A>C (p.Pro26417=) c.79110A>C (p.Pro26370=) c.105153A>C (p.Pro35051=) c.100551A>C (p.Pro33517=) c.100548A>C (p.Pro33516=) c.97590A>C (p.Pro32530=) c.79206A>C (p.Pro26402=) c.100701A>C (p.Pro33567=) c.100698A>C (p.Pro33566=) c.100131A>C (p.Pro33377=) c.97473A>C (p.Pro32491=) c.97392A>C (p.Pro32464=) c.79155A>C (p.Pro26385=) c.69009A>C (p.Pro23003=) | |
2 | g.178530355_178530356delinsTG | CA1310514544 | TTN,TTN-AS1 | c.98555_98556delinsCA (p.Pro32852=) c.79640_79641delinsCA (p.Pro26547=) c.79439_79440delinsCA (p.Pro26480=) c.79064_79065delinsCA (p.Pro26355=) c.106259_106260delinsCA (p.Pro35420=) c.101336_101337delinsCA (p.Pro33779=) n.446+6719_446+6720delinsTG n.220-5377_220-5376delinsTG c.105356_105357delinsCA (p.Pro35119=) c.79250_79251delinsCA (p.Pro26417=) c.79109_79110delinsCA (p.Pro26370=) c.105152_105153delinsCA (p.Pro35051=) c.100550_100551delinsCA (p.Pro33517=) c.100547_100548delinsCA (p.Pro33516=) c.97589_97590delinsCA (p.Pro32530=) c.79205_79206delinsCA (p.Pro26402=) c.100700_100701delinsCA (p.Pro33567=) c.100697_100698delinsCA (p.Pro33566=) c.100130_100131delinsCA (p.Pro33377=) c.97472_97473delinsCA (p.Pro32491=) c.97391_97392delinsCA (p.Pro32464=) c.79154_79155delinsCA (p.Pro26385=) c.69008_69009delinsCA (p.Pro23003=) | |
2 | g.178530356G>A | CA349406392 | TTN,TTN-AS1 | c.98555C>T (p.Pro32852Leu) c.79640C>T (p.Pro26547Leu) c.79439C>T (p.Pro26480Leu) c.79064C>T (p.Pro26355Leu) c.106259C>T (p.Pro35420Leu) c.101336C>T (p.Pro33779Leu) n.446+6720G>A n.220-5376G>A c.105356C>T (p.Pro35119Leu) c.79250C>T (p.Pro26417Leu) c.79109C>T (p.Pro26370Leu) c.105152C>T (p.Pro35051Leu) c.100550C>T (p.Pro33517Leu) c.100547C>T (p.Pro33516Leu) c.97589C>T (p.Pro32530Leu) c.79205C>T (p.Pro26402Leu) c.100700C>T (p.Pro33567Leu) c.100697C>T (p.Pro33566Leu) c.100130C>T (p.Pro33377Leu) c.97472C>T (p.Pro32491Leu) c.97391C>T (p.Pro32464Leu) c.79154C>T (p.Pro26385Leu) c.69008C>T (p.Pro23003Leu) | |
2 | g.178530356G>C | CA1985140 | TTN,TTN-AS1 | c.98555C>G (p.Pro32852Arg) c.79640C>G (p.Pro26547Arg) c.79439C>G (p.Pro26480Arg) c.79064C>G (p.Pro26355Arg) c.106259C>G (p.Pro35420Arg) c.101336C>G (p.Pro33779Arg) n.446+6720G>C n.220-5376G>C c.105356C>G (p.Pro35119Arg) c.79250C>G (p.Pro26417Arg) c.79109C>G (p.Pro26370Arg) c.105152C>G (p.Pro35051Arg) c.100550C>G (p.Pro33517Arg) c.100547C>G (p.Pro33516Arg) c.97589C>G (p.Pro32530Arg) c.79205C>G (p.Pro26402Arg) c.100700C>G (p.Pro33567Arg) c.100697C>G (p.Pro33566Arg) c.100130C>G (p.Pro33377Arg) c.97472C>G (p.Pro32491Arg) c.97391C>G (p.Pro32464Arg) c.79154C>G (p.Pro26385Arg) c.69008C>G (p.Pro23003Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530356G= | CA1310514547 | TTN,TTN-AS1 | c.98555C= (p.Pro32852=) c.79640C= (p.Pro26547=) c.79439C= (p.Pro26480=) c.79064C= (p.Pro26355=) c.106259C= (p.Pro35420=) c.101336C= (p.Pro33779=) n.446+6720G= n.220-5376G= c.105356C= (p.Pro35119=) c.79250C= (p.Pro26417=) c.79109C= (p.Pro26370=) c.105152C= (p.Pro35051=) c.100550C= (p.Pro33517=) c.100547C= (p.Pro33516=) c.97589C= (p.Pro32530=) c.79205C= (p.Pro26402=) c.100700C= (p.Pro33567=) c.100697C= (p.Pro33566=) c.100130C= (p.Pro33377=) c.97472C= (p.Pro32491=) c.97391C= (p.Pro32464=) c.79154C= (p.Pro26385=) c.69008C= (p.Pro23003=) | |
2 | g.178530356G>T | CA349406393 | TTN,TTN-AS1 | c.98555C>A (p.Pro32852Gln) c.79640C>A (p.Pro26547Gln) c.79439C>A (p.Pro26480Gln) c.79064C>A (p.Pro26355Gln) c.106259C>A (p.Pro35420Gln) c.101336C>A (p.Pro33779Gln) n.446+6720G>T n.220-5376G>T c.105356C>A (p.Pro35119Gln) c.79250C>A (p.Pro26417Gln) c.79109C>A (p.Pro26370Gln) c.105152C>A (p.Pro35051Gln) c.100550C>A (p.Pro33517Gln) c.100547C>A (p.Pro33516Gln) c.97589C>A (p.Pro32530Gln) c.79205C>A (p.Pro26402Gln) c.100700C>A (p.Pro33567Gln) c.100697C>A (p.Pro33566Gln) c.100130C>A (p.Pro33377Gln) c.97472C>A (p.Pro32491Gln) c.97391C>A (p.Pro32464Gln) c.79154C>A (p.Pro26385Gln) c.69008C>A (p.Pro23003Gln) | |
2 | g.178530357del | CA1139657398 | TTN,TTN-AS1 | c.98555del (p.Pro32852GlnfsTer2) c.79640del (p.Pro26547GlnfsTer2) c.79439del (p.Pro26480GlnfsTer2) c.79064del (p.Pro26355GlnfsTer2) c.106259del (p.Pro35420GlnfsTer2) c.101336del (p.Pro33779GlnfsTer2) n.446+6721del n.220-5375del c.105356del (p.Pro35119GlnfsTer2) c.79250del (p.Pro26417GlnfsTer2) c.79109del (p.Pro26370GlnfsTer2) c.105152del (p.Pro35051GlnfsTer2) c.100550del (p.Pro33517GlnfsTer2) c.100547del (p.Pro33516GlnfsTer2) c.97589del (p.Pro32530GlnfsTer2) c.79205del (p.Pro26402GlnfsTer2) c.100700del (p.Pro33567GlnfsTer2) c.100697del (p.Pro33566GlnfsTer2) c.100130del (p.Pro33377GlnfsTer2) c.97472del (p.Pro32491GlnfsTer2) c.97391del (p.Pro32464GlnfsTer2) c.79154del (p.Pro26385GlnfsTer2) c.69008del (p.Pro23003GlnfsTer2) | ClinVar dbSNP |
2 | g.178530357G>A | CA1985141 | TTN,TTN-AS1 | c.98554C>T (p.Pro32852Ser) c.79639C>T (p.Pro26547Ser) c.79438C>T (p.Pro26480Ser) c.79063C>T (p.Pro26355Ser) c.106258C>T (p.Pro35420Ser) c.101335C>T (p.Pro33779Ser) n.446+6721G>A n.220-5375G>A c.105355C>T (p.Pro35119Ser) c.79249C>T (p.Pro26417Ser) c.79108C>T (p.Pro26370Ser) c.105151C>T (p.Pro35051Ser) c.100549C>T (p.Pro33517Ser) c.100546C>T (p.Pro33516Ser) c.97588C>T (p.Pro32530Ser) c.79204C>T (p.Pro26402Ser) c.100699C>T (p.Pro33567Ser) c.100696C>T (p.Pro33566Ser) c.100129C>T (p.Pro33377Ser) c.97471C>T (p.Pro32491Ser) c.97390C>T (p.Pro32464Ser) c.79153C>T (p.Pro26385Ser) c.69007C>T (p.Pro23003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530357G>C | CA349406394 | TTN,TTN-AS1 | c.98554C>G (p.Pro32852Ala) c.79639C>G (p.Pro26547Ala) c.79438C>G (p.Pro26480Ala) c.79063C>G (p.Pro26355Ala) c.106258C>G (p.Pro35420Ala) c.101335C>G (p.Pro33779Ala) n.446+6721G>C n.220-5375G>C c.105355C>G (p.Pro35119Ala) c.79249C>G (p.Pro26417Ala) c.79108C>G (p.Pro26370Ala) c.105151C>G (p.Pro35051Ala) c.100549C>G (p.Pro33517Ala) c.100546C>G (p.Pro33516Ala) c.97588C>G (p.Pro32530Ala) c.79204C>G (p.Pro26402Ala) c.100699C>G (p.Pro33567Ala) c.100696C>G (p.Pro33566Ala) c.100129C>G (p.Pro33377Ala) c.97471C>G (p.Pro32491Ala) c.97390C>G (p.Pro32464Ala) c.79153C>G (p.Pro26385Ala) c.69007C>G (p.Pro23003Ala) | |
2 | g.178530357G= | CA1310514551 | TTN,TTN-AS1 | c.98554C= (p.Pro32852=) c.79639C= (p.Pro26547=) c.79438C= (p.Pro26480=) c.79063C= (p.Pro26355=) c.106258C= (p.Pro35420=) c.101335C= (p.Pro33779=) n.446+6721G= n.220-5375G= c.105355C= (p.Pro35119=) c.79249C= (p.Pro26417=) c.79108C= (p.Pro26370=) c.105151C= (p.Pro35051=) c.100549C= (p.Pro33517=) c.100546C= (p.Pro33516=) c.97588C= (p.Pro32530=) c.79204C= (p.Pro26402=) c.100699C= (p.Pro33567=) c.100696C= (p.Pro33566=) c.100129C= (p.Pro33377=) c.97471C= (p.Pro32491=) c.97390C= (p.Pro32464=) c.79153C= (p.Pro26385=) c.69007C= (p.Pro23003=) | |
2 | g.178530357G>T | CA349406395 | TTN,TTN-AS1 | c.98554C>A (p.Pro32852Thr) c.79639C>A (p.Pro26547Thr) c.79438C>A (p.Pro26480Thr) c.79063C>A (p.Pro26355Thr) c.106258C>A (p.Pro35420Thr) c.101335C>A (p.Pro33779Thr) n.446+6721G>T n.220-5375G>T c.105355C>A (p.Pro35119Thr) c.79249C>A (p.Pro26417Thr) c.79108C>A (p.Pro26370Thr) c.105151C>A (p.Pro35051Thr) c.100549C>A (p.Pro33517Thr) c.100546C>A (p.Pro33516Thr) c.97588C>A (p.Pro32530Thr) c.79204C>A (p.Pro26402Thr) c.100699C>A (p.Pro33567Thr) c.100696C>A (p.Pro33566Thr) c.100129C>A (p.Pro33377Thr) c.97471C>A (p.Pro32491Thr) c.97390C>A (p.Pro32464Thr) c.79153C>A (p.Pro26385Thr) c.69007C>A (p.Pro23003Thr) | |
2 | g.178530358T>A | CA349406396 | TTN,TTN-AS1 | c.98553A>T (p.Lys32851Asn) c.79638A>T (p.Lys26546Asn) c.79437A>T (p.Lys26479Asn) c.79062A>T (p.Lys26354Asn) c.106257A>T (p.Lys35419Asn) c.101334A>T (p.Lys33778Asn) n.446+6722T>A n.220-5374T>A c.105354A>T (p.Lys35118Asn) c.79248A>T (p.Lys26416Asn) c.79107A>T (p.Lys26369Asn) c.105150A>T (p.Lys35050Asn) c.100548A>T (p.Lys33516Asn) c.100545A>T (p.Lys33515Asn) c.97587A>T (p.Lys32529Asn) c.79203A>T (p.Lys26401Asn) c.100698A>T (p.Lys33566Asn) c.100695A>T (p.Lys33565Asn) c.100128A>T (p.Lys33376Asn) c.97470A>T (p.Lys32490Asn) c.97389A>T (p.Lys32463Asn) c.79152A>T (p.Lys26384Asn) c.69006A>T (p.Lys23002Asn) | |
2 | g.178530358T>C | CA430235208 | TTN,TTN-AS1 | c.98553A>G (p.Lys32851=) c.79638A>G (p.Lys26546=) c.79437A>G (p.Lys26479=) c.79062A>G (p.Lys26354=) c.106257A>G (p.Lys35419=) c.101334A>G (p.Lys33778=) n.446+6722T>C n.220-5374T>C c.105354A>G (p.Lys35118=) c.79248A>G (p.Lys26416=) c.79107A>G (p.Lys26369=) c.105150A>G (p.Lys35050=) c.100548A>G (p.Lys33516=) c.100545A>G (p.Lys33515=) c.97587A>G (p.Lys32529=) c.79203A>G (p.Lys26401=) c.100698A>G (p.Lys33566=) c.100695A>G (p.Lys33565=) c.100128A>G (p.Lys33376=) c.97470A>G (p.Lys32490=) c.97389A>G (p.Lys32463=) c.79152A>G (p.Lys26384=) c.69006A>G (p.Lys23002=) | |
2 | g.178530358T>G | CA349406397 | TTN,TTN-AS1 | c.98553A>C (p.Lys32851Asn) c.79638A>C (p.Lys26546Asn) c.79437A>C (p.Lys26479Asn) c.79062A>C (p.Lys26354Asn) c.106257A>C (p.Lys35419Asn) c.101334A>C (p.Lys33778Asn) n.446+6722T>G n.220-5374T>G c.105354A>C (p.Lys35118Asn) c.79248A>C (p.Lys26416Asn) c.79107A>C (p.Lys26369Asn) c.105150A>C (p.Lys35050Asn) c.100548A>C (p.Lys33516Asn) c.100545A>C (p.Lys33515Asn) c.97587A>C (p.Lys32529Asn) c.79203A>C (p.Lys26401Asn) c.100698A>C (p.Lys33566Asn) c.100695A>C (p.Lys33565Asn) c.100128A>C (p.Lys33376Asn) c.97470A>C (p.Lys32490Asn) c.97389A>C (p.Lys32463Asn) c.79152A>C (p.Lys26384Asn) c.69006A>C (p.Lys23002Asn) | |
2 | g.178530359T>A | CA349406398 | TTN,TTN-AS1 | c.98552A>T (p.Lys32851Ile) c.79637A>T (p.Lys26546Ile) c.79436A>T (p.Lys26479Ile) c.79061A>T (p.Lys26354Ile) c.106256A>T (p.Lys35419Ile) c.101333A>T (p.Lys33778Ile) n.446+6723T>A n.220-5373T>A c.105353A>T (p.Lys35118Ile) c.79247A>T (p.Lys26416Ile) c.79106A>T (p.Lys26369Ile) c.105149A>T (p.Lys35050Ile) c.100547A>T (p.Lys33516Ile) c.100544A>T (p.Lys33515Ile) c.97586A>T (p.Lys32529Ile) c.79202A>T (p.Lys26401Ile) c.100697A>T (p.Lys33566Ile) c.100694A>T (p.Lys33565Ile) c.100127A>T (p.Lys33376Ile) c.97469A>T (p.Lys32490Ile) c.97388A>T (p.Lys32463Ile) c.79151A>T (p.Lys26384Ile) c.69005A>T (p.Lys23002Ile) | gnomAD v4 |
2 | g.178530359T>C | CA349406399 | TTN,TTN-AS1 | c.98552A>G (p.Lys32851Arg) c.79637A>G (p.Lys26546Arg) c.79436A>G (p.Lys26479Arg) c.79061A>G (p.Lys26354Arg) c.106256A>G (p.Lys35419Arg) c.101333A>G (p.Lys33778Arg) n.446+6723T>C n.220-5373T>C c.105353A>G (p.Lys35118Arg) c.79247A>G (p.Lys26416Arg) c.79106A>G (p.Lys26369Arg) c.105149A>G (p.Lys35050Arg) c.100547A>G (p.Lys33516Arg) c.100544A>G (p.Lys33515Arg) c.97586A>G (p.Lys32529Arg) c.79202A>G (p.Lys26401Arg) c.100697A>G (p.Lys33566Arg) c.100694A>G (p.Lys33565Arg) c.100127A>G (p.Lys33376Arg) c.97469A>G (p.Lys32490Arg) c.97388A>G (p.Lys32463Arg) c.79151A>G (p.Lys26384Arg) c.69005A>G (p.Lys23002Arg) | |
2 | g.178530359T>G | CA349406400 | TTN,TTN-AS1 | c.98552A>C (p.Lys32851Thr) c.79637A>C (p.Lys26546Thr) c.79436A>C (p.Lys26479Thr) c.79061A>C (p.Lys26354Thr) c.106256A>C (p.Lys35419Thr) c.101333A>C (p.Lys33778Thr) n.446+6723T>G n.220-5373T>G c.105353A>C (p.Lys35118Thr) c.79247A>C (p.Lys26416Thr) c.79106A>C (p.Lys26369Thr) c.105149A>C (p.Lys35050Thr) c.100547A>C (p.Lys33516Thr) c.100544A>C (p.Lys33515Thr) c.97586A>C (p.Lys32529Thr) c.79202A>C (p.Lys26401Thr) c.100697A>C (p.Lys33566Thr) c.100694A>C (p.Lys33565Thr) c.100127A>C (p.Lys33376Thr) c.97469A>C (p.Lys32490Thr) c.97388A>C (p.Lys32463Thr) c.79151A>C (p.Lys26384Thr) c.69005A>C (p.Lys23002Thr) | |
2 | g.178530360T>A | CA349406402 | TTN,TTN-AS1 | c.98551A>T (p.Lys32851Ter) c.79636A>T (p.Lys26546Ter) c.79435A>T (p.Lys26479Ter) c.79060A>T (p.Lys26354Ter) c.106255A>T (p.Lys35419Ter) c.101332A>T (p.Lys33778Ter) n.446+6724T>A n.220-5372T>A c.105352A>T (p.Lys35118Ter) c.79246A>T (p.Lys26416Ter) c.79105A>T (p.Lys26369Ter) c.105148A>T (p.Lys35050Ter) c.100546A>T (p.Lys33516Ter) c.100543A>T (p.Lys33515Ter) c.97585A>T (p.Lys32529Ter) c.79201A>T (p.Lys26401Ter) c.100696A>T (p.Lys33566Ter) c.100693A>T (p.Lys33565Ter) c.100126A>T (p.Lys33376Ter) c.97468A>T (p.Lys32490Ter) c.97387A>T (p.Lys32463Ter) c.79150A>T (p.Lys26384Ter) c.69004A>T (p.Lys23002Ter) | |
2 | g.178530360T>C | CA349406403 | TTN,TTN-AS1 | c.98551A>G (p.Lys32851Glu) c.79636A>G (p.Lys26546Glu) c.79435A>G (p.Lys26479Glu) c.79060A>G (p.Lys26354Glu) c.106255A>G (p.Lys35419Glu) c.101332A>G (p.Lys33778Glu) n.446+6724T>C n.220-5372T>C c.105352A>G (p.Lys35118Glu) c.79246A>G (p.Lys26416Glu) c.79105A>G (p.Lys26369Glu) c.105148A>G (p.Lys35050Glu) c.100546A>G (p.Lys33516Glu) c.100543A>G (p.Lys33515Glu) c.97585A>G (p.Lys32529Glu) c.79201A>G (p.Lys26401Glu) c.100696A>G (p.Lys33566Glu) c.100693A>G (p.Lys33565Glu) c.100126A>G (p.Lys33376Glu) c.97468A>G (p.Lys32490Glu) c.97387A>G (p.Lys32463Glu) c.79150A>G (p.Lys26384Glu) c.69004A>G (p.Lys23002Glu) | |
2 | g.178530360T>G | CA349406401 | TTN,TTN-AS1 | c.98551A>C (p.Lys32851Gln) c.79636A>C (p.Lys26546Gln) c.79435A>C (p.Lys26479Gln) c.79060A>C (p.Lys26354Gln) c.106255A>C (p.Lys35419Gln) c.101332A>C (p.Lys33778Gln) n.446+6724T>G n.220-5372T>G c.105352A>C (p.Lys35118Gln) c.79246A>C (p.Lys26416Gln) c.79105A>C (p.Lys26369Gln) c.105148A>C (p.Lys35050Gln) c.100546A>C (p.Lys33516Gln) c.100543A>C (p.Lys33515Gln) c.97585A>C (p.Lys32529Gln) c.79201A>C (p.Lys26401Gln) c.100696A>C (p.Lys33566Gln) c.100693A>C (p.Lys33565Gln) c.100126A>C (p.Lys33376Gln) c.97468A>C (p.Lys32490Gln) c.97387A>C (p.Lys32463Gln) c.79150A>C (p.Lys26384Gln) c.69004A>C (p.Lys23002Gln) | |
2 | g.178530361T>A | CA430235216 | TTN,TTN-AS1 | c.98550A>T (p.Ser32850=) c.79635A>T (p.Ser26545=) c.79434A>T (p.Ser26478=) c.79059A>T (p.Ser26353=) c.106254A>T (p.Ser35418=) c.101331A>T (p.Ser33777=) n.446+6725T>A n.220-5371T>A c.105351A>T (p.Ser35117=) c.79245A>T (p.Ser26415=) c.79104A>T (p.Ser26368=) c.105147A>T (p.Ser35049=) c.100545A>T (p.Ser33515=) c.100542A>T (p.Ser33514=) c.97584A>T (p.Ser32528=) c.79200A>T (p.Ser26400=) c.100695A>T (p.Ser33565=) c.100692A>T (p.Ser33564=) c.100125A>T (p.Ser33375=) c.97467A>T (p.Ser32489=) c.97386A>T (p.Ser32462=) c.79149A>T (p.Ser26383=) c.69003A>T (p.Ser23001=) | |
2 | g.178530361T>C | CA430235218 | TTN,TTN-AS1 | c.98550A>G (p.Ser32850=) c.79635A>G (p.Ser26545=) c.79434A>G (p.Ser26478=) c.79059A>G (p.Ser26353=) c.106254A>G (p.Ser35418=) c.101331A>G (p.Ser33777=) n.446+6725T>C n.220-5371T>C c.105351A>G (p.Ser35117=) c.79245A>G (p.Ser26415=) c.79104A>G (p.Ser26368=) c.105147A>G (p.Ser35049=) c.100545A>G (p.Ser33515=) c.100542A>G (p.Ser33514=) c.97584A>G (p.Ser32528=) c.79200A>G (p.Ser26400=) c.100695A>G (p.Ser33565=) c.100692A>G (p.Ser33564=) c.100125A>G (p.Ser33375=) c.97467A>G (p.Ser32489=) c.97386A>G (p.Ser32462=) c.79149A>G (p.Ser26383=) c.69003A>G (p.Ser23001=) | |
2 | g.178530361T>G | CA430235220 | TTN,TTN-AS1 | c.98550A>C (p.Ser32850=) c.79635A>C (p.Ser26545=) c.79434A>C (p.Ser26478=) c.79059A>C (p.Ser26353=) c.106254A>C (p.Ser35418=) c.101331A>C (p.Ser33777=) n.446+6725T>G n.220-5371T>G c.105351A>C (p.Ser35117=) c.79245A>C (p.Ser26415=) c.79104A>C (p.Ser26368=) c.105147A>C (p.Ser35049=) c.100545A>C (p.Ser33515=) c.100542A>C (p.Ser33514=) c.97584A>C (p.Ser32528=) c.79200A>C (p.Ser26400=) c.100695A>C (p.Ser33565=) c.100692A>C (p.Ser33564=) c.100125A>C (p.Ser33375=) c.97467A>C (p.Ser32489=) c.97386A>C (p.Ser32462=) c.79149A>C (p.Ser26383=) c.69003A>C (p.Ser23001=) | |
2 | g.178530362G>A | CA349406404 | TTN,TTN-AS1 | c.98549C>T (p.Ser32850Leu) c.79634C>T (p.Ser26545Leu) c.79433C>T (p.Ser26478Leu) c.79058C>T (p.Ser26353Leu) c.106253C>T (p.Ser35418Leu) c.101330C>T (p.Ser33777Leu) n.446+6726G>A n.220-5370G>A c.105350C>T (p.Ser35117Leu) c.79244C>T (p.Ser26415Leu) c.79103C>T (p.Ser26368Leu) c.105146C>T (p.Ser35049Leu) c.100544C>T (p.Ser33515Leu) c.100541C>T (p.Ser33514Leu) c.97583C>T (p.Ser32528Leu) c.79199C>T (p.Ser26400Leu) c.100694C>T (p.Ser33565Leu) c.100691C>T (p.Ser33564Leu) c.100124C>T (p.Ser33375Leu) c.97466C>T (p.Ser32489Leu) c.97385C>T (p.Ser32462Leu) c.79148C>T (p.Ser26383Leu) c.69002C>T (p.Ser23001Leu) | ClinVar dbSNP |
2 | g.178530362G>C | CA349406405 | TTN,TTN-AS1 | c.98549C>G (p.Ser32850Ter) c.79634C>G (p.Ser26545Ter) c.79433C>G (p.Ser26478Ter) c.79058C>G (p.Ser26353Ter) c.106253C>G (p.Ser35418Ter) c.101330C>G (p.Ser33777Ter) n.446+6726G>C n.220-5370G>C c.105350C>G (p.Ser35117Ter) c.79244C>G (p.Ser26415Ter) c.79103C>G (p.Ser26368Ter) c.105146C>G (p.Ser35049Ter) c.100544C>G (p.Ser33515Ter) c.100541C>G (p.Ser33514Ter) c.97583C>G (p.Ser32528Ter) c.79199C>G (p.Ser26400Ter) c.100694C>G (p.Ser33565Ter) c.100691C>G (p.Ser33564Ter) c.100124C>G (p.Ser33375Ter) c.97466C>G (p.Ser32489Ter) c.97385C>G (p.Ser32462Ter) c.79148C>G (p.Ser26383Ter) c.69002C>G (p.Ser23001Ter) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530362G= | CA1310514553 | TTN,TTN-AS1 | c.98549C= (p.Ser32850=) c.79634C= (p.Ser26545=) c.79433C= (p.Ser26478=) c.79058C= (p.Ser26353=) c.106253C= (p.Ser35418=) c.101330C= (p.Ser33777=) n.446+6726G= n.220-5370G= c.105350C= (p.Ser35117=) c.79244C= (p.Ser26415=) c.79103C= (p.Ser26368=) c.105146C= (p.Ser35049=) c.100544C= (p.Ser33515=) c.100541C= (p.Ser33514=) c.97583C= (p.Ser32528=) c.79199C= (p.Ser26400=) c.100694C= (p.Ser33565=) c.100691C= (p.Ser33564=) c.100124C= (p.Ser33375=) c.97466C= (p.Ser32489=) c.97385C= (p.Ser32462=) c.79148C= (p.Ser26383=) c.69002C= (p.Ser23001=) | |
2 | g.178530362G>T | CA349406406 | TTN,TTN-AS1 | c.98549C>A (p.Ser32850Ter) c.79634C>A (p.Ser26545Ter) c.79433C>A (p.Ser26478Ter) c.79058C>A (p.Ser26353Ter) c.106253C>A (p.Ser35418Ter) c.101330C>A (p.Ser33777Ter) n.446+6726G>T n.220-5370G>T c.105350C>A (p.Ser35117Ter) c.79244C>A (p.Ser26415Ter) c.79103C>A (p.Ser26368Ter) c.105146C>A (p.Ser35049Ter) c.100544C>A (p.Ser33515Ter) c.100541C>A (p.Ser33514Ter) c.97583C>A (p.Ser32528Ter) c.79199C>A (p.Ser26400Ter) c.100694C>A (p.Ser33565Ter) c.100691C>A (p.Ser33564Ter) c.100124C>A (p.Ser33375Ter) c.97466C>A (p.Ser32489Ter) c.97385C>A (p.Ser32462Ter) c.79148C>A (p.Ser26383Ter) c.69002C>A (p.Ser23001Ter) | |
2 | g.178530363A>C | CA349406407 | TTN,TTN-AS1 | c.98548T>G (p.Ser32850Ala) c.79633T>G (p.Ser26545Ala) c.79432T>G (p.Ser26478Ala) c.79057T>G (p.Ser26353Ala) c.106252T>G (p.Ser35418Ala) c.101329T>G (p.Ser33777Ala) n.446+6727A>C n.220-5369A>C c.105349T>G (p.Ser35117Ala) c.79243T>G (p.Ser26415Ala) c.79102T>G (p.Ser26368Ala) c.105145T>G (p.Ser35049Ala) c.100543T>G (p.Ser33515Ala) c.100540T>G (p.Ser33514Ala) c.97582T>G (p.Ser32528Ala) c.79198T>G (p.Ser26400Ala) c.100693T>G (p.Ser33565Ala) c.100690T>G (p.Ser33564Ala) c.100123T>G (p.Ser33375Ala) c.97465T>G (p.Ser32489Ala) c.97384T>G (p.Ser32462Ala) c.79147T>G (p.Ser26383Ala) c.69001T>G (p.Ser23001Ala) | |
2 | g.178530363A>G | CA349406408 | TTN,TTN-AS1 | c.98548T>C (p.Ser32850Pro) c.79633T>C (p.Ser26545Pro) c.79432T>C (p.Ser26478Pro) c.79057T>C (p.Ser26353Pro) c.106252T>C (p.Ser35418Pro) c.101329T>C (p.Ser33777Pro) n.446+6727A>G n.220-5369A>G c.105349T>C (p.Ser35117Pro) c.79243T>C (p.Ser26415Pro) c.79102T>C (p.Ser26368Pro) c.105145T>C (p.Ser35049Pro) c.100543T>C (p.Ser33515Pro) c.100540T>C (p.Ser33514Pro) c.97582T>C (p.Ser32528Pro) c.79198T>C (p.Ser26400Pro) c.100693T>C (p.Ser33565Pro) c.100690T>C (p.Ser33564Pro) c.100123T>C (p.Ser33375Pro) c.97465T>C (p.Ser32489Pro) c.97384T>C (p.Ser32462Pro) c.79147T>C (p.Ser26383Pro) c.69001T>C (p.Ser23001Pro) | |
2 | g.178530363A>T | CA349406409 | TTN,TTN-AS1 | c.98548T>A (p.Ser32850Thr) c.79633T>A (p.Ser26545Thr) c.79432T>A (p.Ser26478Thr) c.79057T>A (p.Ser26353Thr) c.106252T>A (p.Ser35418Thr) c.101329T>A (p.Ser33777Thr) n.446+6727A>T n.220-5369A>T c.105349T>A (p.Ser35117Thr) c.79243T>A (p.Ser26415Thr) c.79102T>A (p.Ser26368Thr) c.105145T>A (p.Ser35049Thr) c.100543T>A (p.Ser33515Thr) c.100540T>A (p.Ser33514Thr) c.97582T>A (p.Ser32528Thr) c.79198T>A (p.Ser26400Thr) c.100693T>A (p.Ser33565Thr) c.100690T>A (p.Ser33564Thr) c.100123T>A (p.Ser33375Thr) c.97465T>A (p.Ser32489Thr) c.97384T>A (p.Ser32462Thr) c.79147T>A (p.Ser26383Thr) c.69001T>A (p.Ser23001Thr) | |
2 | g.178530364G>A | CA60953318 | TTN,TTN-AS1 | c.98547C>T (p.Ser32849=) c.79632C>T (p.Ser26544=) c.79431C>T (p.Ser26477=) c.79056C>T (p.Ser26352=) c.106251C>T (p.Ser35417=) c.101328C>T (p.Ser33776=) n.446+6728G>A n.220-5368G>A c.105348C>T (p.Ser35116=) c.79242C>T (p.Ser26414=) c.79101C>T (p.Ser26367=) c.105144C>T (p.Ser35048=) c.100542C>T (p.Ser33514=) c.100539C>T (p.Ser33513=) c.97581C>T (p.Ser32527=) c.79197C>T (p.Ser26399=) c.100692C>T (p.Ser33564=) c.100689C>T (p.Ser33563=) c.100122C>T (p.Ser33374=) c.97464C>T (p.Ser32488=) c.97383C>T (p.Ser32461=) c.79146C>T (p.Ser26382=) c.69000C>T (p.Ser23000=) | dbSNP |
2 | g.178530364G>C | CA430235227 | TTN,TTN-AS1 | c.98547C>G (p.Ser32849=) c.79632C>G (p.Ser26544=) c.79431C>G (p.Ser26477=) c.79056C>G (p.Ser26352=) c.106251C>G (p.Ser35417=) c.101328C>G (p.Ser33776=) n.446+6728G>C n.220-5368G>C c.105348C>G (p.Ser35116=) c.79242C>G (p.Ser26414=) c.79101C>G (p.Ser26367=) c.105144C>G (p.Ser35048=) c.100542C>G (p.Ser33514=) c.100539C>G (p.Ser33513=) c.97581C>G (p.Ser32527=) c.79197C>G (p.Ser26399=) c.100692C>G (p.Ser33564=) c.100689C>G (p.Ser33563=) c.100122C>G (p.Ser33374=) c.97464C>G (p.Ser32488=) c.97383C>G (p.Ser32461=) c.79146C>G (p.Ser26382=) c.69000C>G (p.Ser23000=) | |
2 | g.178530364G= | CA1310514555 | TTN,TTN-AS1 | c.98547C= (p.Ser32849=) c.79632C= (p.Ser26544=) c.79431C= (p.Ser26477=) c.79056C= (p.Ser26352=) c.106251C= (p.Ser35417=) c.101328C= (p.Ser33776=) n.446+6728G= n.220-5368G= c.105348C= (p.Ser35116=) c.79242C= (p.Ser26414=) c.79101C= (p.Ser26367=) c.105144C= (p.Ser35048=) c.100542C= (p.Ser33514=) c.100539C= (p.Ser33513=) c.97581C= (p.Ser32527=) c.79197C= (p.Ser26399=) c.100692C= (p.Ser33564=) c.100689C= (p.Ser33563=) c.100122C= (p.Ser33374=) c.97464C= (p.Ser32488=) c.97383C= (p.Ser32461=) c.79146C= (p.Ser26382=) c.69000C= (p.Ser23000=) | |
2 | g.178530364G>T | CA430235228 | TTN,TTN-AS1 | c.98547C>A (p.Ser32849=) c.79632C>A (p.Ser26544=) c.79431C>A (p.Ser26477=) c.79056C>A (p.Ser26352=) c.106251C>A (p.Ser35417=) c.101328C>A (p.Ser33776=) n.446+6728G>T n.220-5368G>T c.105348C>A (p.Ser35116=) c.79242C>A (p.Ser26414=) c.79101C>A (p.Ser26367=) c.105144C>A (p.Ser35048=) c.100542C>A (p.Ser33514=) c.100539C>A (p.Ser33513=) c.97581C>A (p.Ser32527=) c.79197C>A (p.Ser26399=) c.100692C>A (p.Ser33564=) c.100689C>A (p.Ser33563=) c.100122C>A (p.Ser33374=) c.97464C>A (p.Ser32488=) c.97383C>A (p.Ser32461=) c.79146C>A (p.Ser26382=) c.69000C>A (p.Ser23000=) | |
2 | g.178530365G>A | CA349406410 | TTN,TTN-AS1 | c.98546C>T (p.Ser32849Phe) c.79631C>T (p.Ser26544Phe) c.79430C>T (p.Ser26477Phe) c.79055C>T (p.Ser26352Phe) c.106250C>T (p.Ser35417Phe) c.101327C>T (p.Ser33776Phe) n.446+6729G>A n.220-5367G>A c.105347C>T (p.Ser35116Phe) c.79241C>T (p.Ser26414Phe) c.79100C>T (p.Ser26367Phe) c.105143C>T (p.Ser35048Phe) c.100541C>T (p.Ser33514Phe) c.100538C>T (p.Ser33513Phe) c.97580C>T (p.Ser32527Phe) c.79196C>T (p.Ser26399Phe) c.100691C>T (p.Ser33564Phe) c.100688C>T (p.Ser33563Phe) c.100121C>T (p.Ser33374Phe) c.97463C>T (p.Ser32488Phe) c.97382C>T (p.Ser32461Phe) c.79145C>T (p.Ser26382Phe) c.68999C>T (p.Ser23000Phe) | dbSNP gnomAD v4 |
2 | g.178530365G>C | CA349406411 | TTN,TTN-AS1 | c.98546C>G (p.Ser32849Cys) c.79631C>G (p.Ser26544Cys) c.79430C>G (p.Ser26477Cys) c.79055C>G (p.Ser26352Cys) c.106250C>G (p.Ser35417Cys) c.101327C>G (p.Ser33776Cys) n.446+6729G>C n.220-5367G>C c.105347C>G (p.Ser35116Cys) c.79241C>G (p.Ser26414Cys) c.79100C>G (p.Ser26367Cys) c.105143C>G (p.Ser35048Cys) c.100541C>G (p.Ser33514Cys) c.100538C>G (p.Ser33513Cys) c.97580C>G (p.Ser32527Cys) c.79196C>G (p.Ser26399Cys) c.100691C>G (p.Ser33564Cys) c.100688C>G (p.Ser33563Cys) c.100121C>G (p.Ser33374Cys) c.97463C>G (p.Ser32488Cys) c.97382C>G (p.Ser32461Cys) c.79145C>G (p.Ser26382Cys) c.68999C>G (p.Ser23000Cys) | |
2 | g.178530365G>T | CA349406412 | TTN,TTN-AS1 | c.98546C>A (p.Ser32849Tyr) c.79631C>A (p.Ser26544Tyr) c.79430C>A (p.Ser26477Tyr) c.79055C>A (p.Ser26352Tyr) c.106250C>A (p.Ser35417Tyr) c.101327C>A (p.Ser33776Tyr) n.446+6729G>T n.220-5367G>T c.105347C>A (p.Ser35116Tyr) c.79241C>A (p.Ser26414Tyr) c.79100C>A (p.Ser26367Tyr) c.105143C>A (p.Ser35048Tyr) c.100541C>A (p.Ser33514Tyr) c.100538C>A (p.Ser33513Tyr) c.97580C>A (p.Ser32527Tyr) c.79196C>A (p.Ser26399Tyr) c.100691C>A (p.Ser33564Tyr) c.100688C>A (p.Ser33563Tyr) c.100121C>A (p.Ser33374Tyr) c.97463C>A (p.Ser32488Tyr) c.97382C>A (p.Ser32461Tyr) c.79145C>A (p.Ser26382Tyr) c.68999C>A (p.Ser23000Tyr) | |
2 | g.178530366A>C | CA349406413 | TTN,TTN-AS1 | c.98545T>G (p.Ser32849Ala) c.79630T>G (p.Ser26544Ala) c.79429T>G (p.Ser26477Ala) c.79054T>G (p.Ser26352Ala) c.106249T>G (p.Ser35417Ala) c.101326T>G (p.Ser33776Ala) n.446+6730A>C n.220-5366A>C c.105346T>G (p.Ser35116Ala) c.79240T>G (p.Ser26414Ala) c.79099T>G (p.Ser26367Ala) c.105142T>G (p.Ser35048Ala) c.100540T>G (p.Ser33514Ala) c.100537T>G (p.Ser33513Ala) c.97579T>G (p.Ser32527Ala) c.79195T>G (p.Ser26399Ala) c.100690T>G (p.Ser33564Ala) c.100687T>G (p.Ser33563Ala) c.100120T>G (p.Ser33374Ala) c.97462T>G (p.Ser32488Ala) c.97381T>G (p.Ser32461Ala) c.79144T>G (p.Ser26382Ala) c.68998T>G (p.Ser23000Ala) | |
2 | g.178530366A>G | CA349406414 | TTN,TTN-AS1 | c.98545T>C (p.Ser32849Pro) c.79630T>C (p.Ser26544Pro) c.79429T>C (p.Ser26477Pro) c.79054T>C (p.Ser26352Pro) c.106249T>C (p.Ser35417Pro) c.101326T>C (p.Ser33776Pro) n.446+6730A>G n.220-5366A>G c.105346T>C (p.Ser35116Pro) c.79240T>C (p.Ser26414Pro) c.79099T>C (p.Ser26367Pro) c.105142T>C (p.Ser35048Pro) c.100540T>C (p.Ser33514Pro) c.100537T>C (p.Ser33513Pro) c.97579T>C (p.Ser32527Pro) c.79195T>C (p.Ser26399Pro) c.100690T>C (p.Ser33564Pro) c.100687T>C (p.Ser33563Pro) c.100120T>C (p.Ser33374Pro) c.97462T>C (p.Ser32488Pro) c.97381T>C (p.Ser32461Pro) c.79144T>C (p.Ser26382Pro) c.68998T>C (p.Ser23000Pro) | |
2 | g.178530366A>T | CA349406415 | TTN,TTN-AS1 | c.98545T>A (p.Ser32849Thr) c.79630T>A (p.Ser26544Thr) c.79429T>A (p.Ser26477Thr) c.79054T>A (p.Ser26352Thr) c.106249T>A (p.Ser35417Thr) c.101326T>A (p.Ser33776Thr) n.446+6730A>T n.220-5366A>T c.105346T>A (p.Ser35116Thr) c.79240T>A (p.Ser26414Thr) c.79099T>A (p.Ser26367Thr) c.105142T>A (p.Ser35048Thr) c.100540T>A (p.Ser33514Thr) c.100537T>A (p.Ser33513Thr) c.97579T>A (p.Ser32527Thr) c.79195T>A (p.Ser26399Thr) c.100690T>A (p.Ser33564Thr) c.100687T>A (p.Ser33563Thr) c.100120T>A (p.Ser33374Thr) c.97462T>A (p.Ser32488Thr) c.97381T>A (p.Ser32461Thr) c.79144T>A (p.Ser26382Thr) c.68998T>A (p.Ser23000Thr) | |
2 | g.178530367A>C | CA349406417 | TTN,TTN-AS1 | c.98544T>G (p.Ile32848Met) c.79629T>G (p.Ile26543Met) c.79428T>G (p.Ile26476Met) c.79053T>G (p.Ile26351Met) c.106248T>G (p.Ile35416Met) c.101325T>G (p.Ile33775Met) n.446+6731A>C n.220-5365A>C c.105345T>G (p.Ile35115Met) c.79239T>G (p.Ile26413Met) c.79098T>G (p.Ile26366Met) c.105141T>G (p.Ile35047Met) c.100539T>G (p.Ile33513Met) c.100536T>G (p.Ile33512Met) c.97578T>G (p.Ile32526Met) c.79194T>G (p.Ile26398Met) c.100689T>G (p.Ile33563Met) c.100686T>G (p.Ile33562Met) c.100119T>G (p.Ile33373Met) c.97461T>G (p.Ile32487Met) c.97380T>G (p.Ile32460Met) c.79143T>G (p.Ile26381Met) c.68997T>G (p.Ile22999Met) | gnomAD v4 |
2 | g.178530367A>G | CA430235232 | TTN,TTN-AS1 | c.98544T>C (p.Ile32848=) c.79629T>C (p.Ile26543=) c.79428T>C (p.Ile26476=) c.79053T>C (p.Ile26351=) c.106248T>C (p.Ile35416=) c.101325T>C (p.Ile33775=) n.446+6731A>G n.220-5365A>G c.105345T>C (p.Ile35115=) c.79239T>C (p.Ile26413=) c.79098T>C (p.Ile26366=) c.105141T>C (p.Ile35047=) c.100539T>C (p.Ile33513=) c.100536T>C (p.Ile33512=) c.97578T>C (p.Ile32526=) c.79194T>C (p.Ile26398=) c.100689T>C (p.Ile33563=) c.100686T>C (p.Ile33562=) c.100119T>C (p.Ile33373=) c.97461T>C (p.Ile32487=) c.97380T>C (p.Ile32460=) c.79143T>C (p.Ile26381=) c.68997T>C (p.Ile22999=) | |
2 | g.178530367A>T | CA430235231 | TTN,TTN-AS1 | c.98544T>A (p.Ile32848=) c.79629T>A (p.Ile26543=) c.79428T>A (p.Ile26476=) c.79053T>A (p.Ile26351=) c.106248T>A (p.Ile35416=) c.101325T>A (p.Ile33775=) n.446+6731A>T n.220-5365A>T c.105345T>A (p.Ile35115=) c.79239T>A (p.Ile26413=) c.79098T>A (p.Ile26366=) c.105141T>A (p.Ile35047=) c.100539T>A (p.Ile33513=) c.100536T>A (p.Ile33512=) c.97578T>A (p.Ile32526=) c.79194T>A (p.Ile26398=) c.100689T>A (p.Ile33563=) c.100686T>A (p.Ile33562=) c.100119T>A (p.Ile33373=) c.97461T>A (p.Ile32487=) c.97380T>A (p.Ile32460=) c.79143T>A (p.Ile26381=) c.68997T>A (p.Ile22999=) | |
2 | g.178530368A= | CA1310514557 | TTN,TTN-AS1 | c.98543T= (p.Ile32848=) c.79628T= (p.Ile26543=) c.79427T= (p.Ile26476=) c.79052T= (p.Ile26351=) c.106247T= (p.Ile35416=) c.101324T= (p.Ile33775=) n.446+6732A= n.220-5364A= c.105344T= (p.Ile35115=) c.79238T= (p.Ile26413=) c.79097T= (p.Ile26366=) c.105140T= (p.Ile35047=) c.100538T= (p.Ile33513=) c.100535T= (p.Ile33512=) c.97577T= (p.Ile32526=) c.79193T= (p.Ile26398=) c.100688T= (p.Ile33563=) c.100685T= (p.Ile33562=) c.100118T= (p.Ile33373=) c.97460T= (p.Ile32487=) c.97379T= (p.Ile32460=) c.79142T= (p.Ile26381=) c.68996T= (p.Ile22999=) | |
2 | g.178530368A>C | CA349406433 | TTN,TTN-AS1 | c.98543T>G (p.Ile32848Ser) c.79628T>G (p.Ile26543Ser) c.79427T>G (p.Ile26476Ser) c.79052T>G (p.Ile26351Ser) c.106247T>G (p.Ile35416Ser) c.101324T>G (p.Ile33775Ser) n.446+6732A>C n.220-5364A>C c.105344T>G (p.Ile35115Ser) c.79238T>G (p.Ile26413Ser) c.79097T>G (p.Ile26366Ser) c.105140T>G (p.Ile35047Ser) c.100538T>G (p.Ile33513Ser) c.100535T>G (p.Ile33512Ser) c.97577T>G (p.Ile32526Ser) c.79193T>G (p.Ile26398Ser) c.100688T>G (p.Ile33563Ser) c.100685T>G (p.Ile33562Ser) c.100118T>G (p.Ile33373Ser) c.97460T>G (p.Ile32487Ser) c.97379T>G (p.Ile32460Ser) c.79142T>G (p.Ile26381Ser) c.68996T>G (p.Ile22999Ser) | gnomAD v4 |
2 | g.178530368A>G | CA349406431 | TTN,TTN-AS1 | c.98543T>C (p.Ile32848Thr) c.79628T>C (p.Ile26543Thr) c.79427T>C (p.Ile26476Thr) c.79052T>C (p.Ile26351Thr) c.106247T>C (p.Ile35416Thr) c.101324T>C (p.Ile33775Thr) n.446+6732A>G n.220-5364A>G c.105344T>C (p.Ile35115Thr) c.79238T>C (p.Ile26413Thr) c.79097T>C (p.Ile26366Thr) c.105140T>C (p.Ile35047Thr) c.100538T>C (p.Ile33513Thr) c.100535T>C (p.Ile33512Thr) c.97577T>C (p.Ile32526Thr) c.79193T>C (p.Ile26398Thr) c.100688T>C (p.Ile33563Thr) c.100685T>C (p.Ile33562Thr) c.100118T>C (p.Ile33373Thr) c.97460T>C (p.Ile32487Thr) c.97379T>C (p.Ile32460Thr) c.79142T>C (p.Ile26381Thr) c.68996T>C (p.Ile22999Thr) | dbSNP |
2 | g.178530368A>T | CA349406419 | TTN,TTN-AS1 | c.98543T>A (p.Ile32848Asn) c.79628T>A (p.Ile26543Asn) c.79427T>A (p.Ile26476Asn) c.79052T>A (p.Ile26351Asn) c.106247T>A (p.Ile35416Asn) c.101324T>A (p.Ile33775Asn) n.446+6732A>T n.220-5364A>T c.105344T>A (p.Ile35115Asn) c.79238T>A (p.Ile26413Asn) c.79097T>A (p.Ile26366Asn) c.105140T>A (p.Ile35047Asn) c.100538T>A (p.Ile33513Asn) c.100535T>A (p.Ile33512Asn) c.97577T>A (p.Ile32526Asn) c.79193T>A (p.Ile26398Asn) c.100688T>A (p.Ile33563Asn) c.100685T>A (p.Ile33562Asn) c.100118T>A (p.Ile33373Asn) c.97460T>A (p.Ile32487Asn) c.97379T>A (p.Ile32460Asn) c.79142T>A (p.Ile26381Asn) c.68996T>A (p.Ile22999Asn) | |
2 | g.178530368_178530383delinsATTGGTTCAGGAGCTT | CA1310514558 | TTN,TTN-AS1 | c.98528_98543delinsAAGCTCCTGAACCAAT (p.Lys32843=) c.79613_79628delinsAAGCTCCTGAACCAAT (p.Lys26538=) c.79412_79427delinsAAGCTCCTGAACCAAT (p.Lys26471=) c.79037_79052delinsAAGCTCCTGAACCAAT (p.Lys26346=) c.106232_106247delinsAAGCTCCTGAACCAAT (p.Lys35411=) c.101309_101324delinsAAGCTCCTGAACCAAT (p.Lys33770=) n.446+6732_446+6747delinsATTGGTTCAGGAGCTT n.220-5364_220-5349delinsATTGGTTCAGGAGCTT c.105329_105344delinsAAGCTCCTGAACCAAT (p.Lys35110=) c.79223_79238delinsAAGCTCCTGAACCAAT (p.Lys26408=) c.79082_79097delinsAAGCTCCTGAACCAAT (p.Lys26361=) c.105125_105140delinsAAGCTCCTGAACCAAT (p.Lys35042=) c.100523_100538delinsAAGCTCCTGAACCAAT (p.Lys33508=) c.100520_100535delinsAAGCTCCTGAACCAAT (p.Lys33507=) c.97562_97577delinsAAGCTCCTGAACCAAT (p.Lys32521=) c.79178_79193delinsAAGCTCCTGAACCAAT (p.Lys26393=) c.100673_100688delinsAAGCTCCTGAACCAAT (p.Lys33558=) c.100670_100685delinsAAGCTCCTGAACCAAT (p.Lys33557=) c.100103_100118delinsAAGCTCCTGAACCAAT (p.Lys33368=) c.97445_97460delinsAAGCTCCTGAACCAAT (p.Lys32482=) c.97364_97379delinsAAGCTCCTGAACCAAT (p.Lys32455=) c.79127_79142delinsAAGCTCCTGAACCAAT (p.Lys26376=) c.68981_68996delinsAAGCTCCTGAACCAAT (p.Lys22994=) | |
2 | g.178530369T>A | CA349406437 | TTN,TTN-AS1 | c.98542A>T (p.Ile32848Phe) c.79627A>T (p.Ile26543Phe) c.79426A>T (p.Ile26476Phe) c.79051A>T (p.Ile26351Phe) c.106246A>T (p.Ile35416Phe) c.101323A>T (p.Ile33775Phe) n.446+6733T>A n.220-5363T>A c.105343A>T (p.Ile35115Phe) c.79237A>T (p.Ile26413Phe) c.79096A>T (p.Ile26366Phe) c.105139A>T (p.Ile35047Phe) c.100537A>T (p.Ile33513Phe) c.100534A>T (p.Ile33512Phe) c.97576A>T (p.Ile32526Phe) c.79192A>T (p.Ile26398Phe) c.100687A>T (p.Ile33563Phe) c.100684A>T (p.Ile33562Phe) c.100117A>T (p.Ile33373Phe) c.97459A>T (p.Ile32487Phe) c.97378A>T (p.Ile32460Phe) c.79141A>T (p.Ile26381Phe) c.68995A>T (p.Ile22999Phe) | |
2 | g.178530369T>C | CA349406438 | TTN,TTN-AS1 | c.98542A>G (p.Ile32848Val) c.79627A>G (p.Ile26543Val) c.79426A>G (p.Ile26476Val) c.79051A>G (p.Ile26351Val) c.106246A>G (p.Ile35416Val) c.101323A>G (p.Ile33775Val) n.446+6733T>C n.220-5363T>C c.105343A>G (p.Ile35115Val) c.79237A>G (p.Ile26413Val) c.79096A>G (p.Ile26366Val) c.105139A>G (p.Ile35047Val) c.100537A>G (p.Ile33513Val) c.100534A>G (p.Ile33512Val) c.97576A>G (p.Ile32526Val) c.79192A>G (p.Ile26398Val) c.100687A>G (p.Ile33563Val) c.100684A>G (p.Ile33562Val) c.100117A>G (p.Ile33373Val) c.97459A>G (p.Ile32487Val) c.97378A>G (p.Ile32460Val) c.79141A>G (p.Ile26381Val) c.68995A>G (p.Ile22999Val) | |
2 | g.178530369T>G | CA349406439 | TTN,TTN-AS1 | c.98542A>C (p.Ile32848Leu) c.79627A>C (p.Ile26543Leu) c.79426A>C (p.Ile26476Leu) c.79051A>C (p.Ile26351Leu) c.106246A>C (p.Ile35416Leu) c.101323A>C (p.Ile33775Leu) n.446+6733T>G n.220-5363T>G c.105343A>C (p.Ile35115Leu) c.79237A>C (p.Ile26413Leu) c.79096A>C (p.Ile26366Leu) c.105139A>C (p.Ile35047Leu) c.100537A>C (p.Ile33513Leu) c.100534A>C (p.Ile33512Leu) c.97576A>C (p.Ile32526Leu) c.79192A>C (p.Ile26398Leu) c.100687A>C (p.Ile33563Leu) c.100684A>C (p.Ile33562Leu) c.100117A>C (p.Ile33373Leu) c.97459A>C (p.Ile32487Leu) c.97378A>C (p.Ile32460Leu) c.79141A>C (p.Ile26381Leu) c.68995A>C (p.Ile22999Leu) | |
2 | g.178530378_178530392del | CA538434977 | TTN,TTN-AS1 | c.98528_98542del (p.Lys32843_Pro32847del) c.79613_79627del (p.Lys26538_Pro26542del) c.79412_79426del (p.Lys26471_Pro26475del) c.79037_79051del (p.Lys26346_Pro26350del) c.106232_106246del (p.Lys35411_Pro35415del) c.101309_101323del (p.Lys33770_Pro33774del) n.446+6742_446+6756del n.220-5354_220-5340del c.105329_105343del (p.Lys35110_Pro35114del) c.79223_79237del (p.Lys26408_Pro26412del) c.79082_79096del (p.Lys26361_Pro26365del) c.105125_105139del (p.Lys35042_Pro35046del) c.100523_100537del (p.Lys33508_Pro33512del) c.100520_100534del (p.Lys33507_Pro33511del) c.97562_97576del (p.Lys32521_Pro32525del) c.79178_79192del (p.Lys26393_Pro26397del) c.100673_100687del (p.Lys33558_Pro33562del) c.100670_100684del (p.Lys33557_Pro33561del) c.100103_100117del (p.Lys33368_Pro33372del) c.97445_97459del (p.Lys32482_Pro32486del) c.97364_97378del (p.Lys32455_Pro32459del) c.79127_79141del (p.Lys26376_Pro26380del) c.68981_68995del (p.Lys22994_Pro22998del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530370T>A | CA430235239 | TTN,TTN-AS1 | c.98541A>T (p.Pro32847=) c.79626A>T (p.Pro26542=) c.79425A>T (p.Pro26475=) c.79050A>T (p.Pro26350=) c.106245A>T (p.Pro35415=) c.101322A>T (p.Pro33774=) n.446+6734T>A n.220-5362T>A c.105342A>T (p.Pro35114=) c.79236A>T (p.Pro26412=) c.79095A>T (p.Pro26365=) c.105138A>T (p.Pro35046=) c.100536A>T (p.Pro33512=) c.100533A>T (p.Pro33511=) c.97575A>T (p.Pro32525=) c.79191A>T (p.Pro26397=) c.100686A>T (p.Pro33562=) c.100683A>T (p.Pro33561=) c.100116A>T (p.Pro33372=) c.97458A>T (p.Pro32486=) c.97377A>T (p.Pro32459=) c.79140A>T (p.Pro26380=) c.68994A>T (p.Pro22998=) | |
2 | g.178530370T>C | CA430235236 | TTN,TTN-AS1 | c.98541A>G (p.Pro32847=) c.79626A>G (p.Pro26542=) c.79425A>G (p.Pro26475=) c.79050A>G (p.Pro26350=) c.106245A>G (p.Pro35415=) c.101322A>G (p.Pro33774=) n.446+6734T>C n.220-5362T>C c.105342A>G (p.Pro35114=) c.79236A>G (p.Pro26412=) c.79095A>G (p.Pro26365=) c.105138A>G (p.Pro35046=) c.100536A>G (p.Pro33512=) c.100533A>G (p.Pro33511=) c.97575A>G (p.Pro32525=) c.79191A>G (p.Pro26397=) c.100686A>G (p.Pro33562=) c.100683A>G (p.Pro33561=) c.100116A>G (p.Pro33372=) c.97458A>G (p.Pro32486=) c.97377A>G (p.Pro32459=) c.79140A>G (p.Pro26380=) c.68994A>G (p.Pro22998=) | gnomAD v4 |
2 | g.178530370T>G | CA430235237 | TTN,TTN-AS1 | c.98541A>C (p.Pro32847=) c.79626A>C (p.Pro26542=) c.79425A>C (p.Pro26475=) c.79050A>C (p.Pro26350=) c.106245A>C (p.Pro35415=) c.101322A>C (p.Pro33774=) n.446+6734T>G n.220-5362T>G c.105342A>C (p.Pro35114=) c.79236A>C (p.Pro26412=) c.79095A>C (p.Pro26365=) c.105138A>C (p.Pro35046=) c.100536A>C (p.Pro33512=) c.100533A>C (p.Pro33511=) c.97575A>C (p.Pro32525=) c.79191A>C (p.Pro26397=) c.100686A>C (p.Pro33562=) c.100683A>C (p.Pro33561=) c.100116A>C (p.Pro33372=) c.97458A>C (p.Pro32486=) c.97377A>C (p.Pro32459=) c.79140A>C (p.Pro26380=) c.68994A>C (p.Pro22998=) | |
2 | g.178530371G>A | CA349406440 | TTN,TTN-AS1 | c.98540C>T (p.Pro32847Leu) c.79625C>T (p.Pro26542Leu) c.79424C>T (p.Pro26475Leu) c.79049C>T (p.Pro26350Leu) c.106244C>T (p.Pro35415Leu) c.101321C>T (p.Pro33774Leu) n.446+6735G>A n.220-5361G>A c.105341C>T (p.Pro35114Leu) c.79235C>T (p.Pro26412Leu) c.79094C>T (p.Pro26365Leu) c.105137C>T (p.Pro35046Leu) c.100535C>T (p.Pro33512Leu) c.100532C>T (p.Pro33511Leu) c.97574C>T (p.Pro32525Leu) c.79190C>T (p.Pro26397Leu) c.100685C>T (p.Pro33562Leu) c.100682C>T (p.Pro33561Leu) c.100115C>T (p.Pro33372Leu) c.97457C>T (p.Pro32486Leu) c.97376C>T (p.Pro32459Leu) c.79139C>T (p.Pro26380Leu) c.68993C>T (p.Pro22998Leu) | gnomAD v4 |
2 | g.178530371G>C | CA349406443 | TTN,TTN-AS1 | c.98540C>G (p.Pro32847Arg) c.79625C>G (p.Pro26542Arg) c.79424C>G (p.Pro26475Arg) c.79049C>G (p.Pro26350Arg) c.106244C>G (p.Pro35415Arg) c.101321C>G (p.Pro33774Arg) n.446+6735G>C n.220-5361G>C c.105341C>G (p.Pro35114Arg) c.79235C>G (p.Pro26412Arg) c.79094C>G (p.Pro26365Arg) c.105137C>G (p.Pro35046Arg) c.100535C>G (p.Pro33512Arg) c.100532C>G (p.Pro33511Arg) c.97574C>G (p.Pro32525Arg) c.79190C>G (p.Pro26397Arg) c.100685C>G (p.Pro33562Arg) c.100682C>G (p.Pro33561Arg) c.100115C>G (p.Pro33372Arg) c.97457C>G (p.Pro32486Arg) c.97376C>G (p.Pro32459Arg) c.79139C>G (p.Pro26380Arg) c.68993C>G (p.Pro22998Arg) | |
2 | g.178530371G>T | CA349406445 | TTN,TTN-AS1 | c.98540C>A (p.Pro32847Gln) c.79625C>A (p.Pro26542Gln) c.79424C>A (p.Pro26475Gln) c.79049C>A (p.Pro26350Gln) c.106244C>A (p.Pro35415Gln) c.101321C>A (p.Pro33774Gln) n.446+6735G>T n.220-5361G>T c.105341C>A (p.Pro35114Gln) c.79235C>A (p.Pro26412Gln) c.79094C>A (p.Pro26365Gln) c.105137C>A (p.Pro35046Gln) c.100535C>A (p.Pro33512Gln) c.100532C>A (p.Pro33511Gln) c.97574C>A (p.Pro32525Gln) c.79190C>A (p.Pro26397Gln) c.100685C>A (p.Pro33562Gln) c.100682C>A (p.Pro33561Gln) c.100115C>A (p.Pro33372Gln) c.97457C>A (p.Pro32486Gln) c.97376C>A (p.Pro32459Gln) c.79139C>A (p.Pro26380Gln) c.68993C>A (p.Pro22998Gln) | |
2 | g.178530372G>A | CA349406448 | TTN,TTN-AS1 | c.98539C>T (p.Pro32847Ser) c.79624C>T (p.Pro26542Ser) c.79423C>T (p.Pro26475Ser) c.79048C>T (p.Pro26350Ser) c.106243C>T (p.Pro35415Ser) c.101320C>T (p.Pro33774Ser) n.446+6736G>A n.220-5360G>A c.105340C>T (p.Pro35114Ser) c.79234C>T (p.Pro26412Ser) c.79093C>T (p.Pro26365Ser) c.105136C>T (p.Pro35046Ser) c.100534C>T (p.Pro33512Ser) c.100531C>T (p.Pro33511Ser) c.97573C>T (p.Pro32525Ser) c.79189C>T (p.Pro26397Ser) c.100684C>T (p.Pro33562Ser) c.100681C>T (p.Pro33561Ser) c.100114C>T (p.Pro33372Ser) c.97456C>T (p.Pro32486Ser) c.97375C>T (p.Pro32459Ser) c.79138C>T (p.Pro26380Ser) c.68992C>T (p.Pro22998Ser) | dbSNP |
2 | g.178530372G>C | CA349406450 | TTN,TTN-AS1 | c.98539C>G (p.Pro32847Ala) c.79624C>G (p.Pro26542Ala) c.79423C>G (p.Pro26475Ala) c.79048C>G (p.Pro26350Ala) c.106243C>G (p.Pro35415Ala) c.101320C>G (p.Pro33774Ala) n.446+6736G>C n.220-5360G>C c.105340C>G (p.Pro35114Ala) c.79234C>G (p.Pro26412Ala) c.79093C>G (p.Pro26365Ala) c.105136C>G (p.Pro35046Ala) c.100534C>G (p.Pro33512Ala) c.100531C>G (p.Pro33511Ala) c.97573C>G (p.Pro32525Ala) c.79189C>G (p.Pro26397Ala) c.100684C>G (p.Pro33562Ala) c.100681C>G (p.Pro33561Ala) c.100114C>G (p.Pro33372Ala) c.97456C>G (p.Pro32486Ala) c.97375C>G (p.Pro32459Ala) c.79138C>G (p.Pro26380Ala) c.68992C>G (p.Pro22998Ala) | |
2 | g.178530372G= | CA1310514560 | TTN,TTN-AS1 | c.98539C= (p.Pro32847=) c.79624C= (p.Pro26542=) c.79423C= (p.Pro26475=) c.79048C= (p.Pro26350=) c.106243C= (p.Pro35415=) c.101320C= (p.Pro33774=) n.446+6736G= n.220-5360G= c.105340C= (p.Pro35114=) c.79234C= (p.Pro26412=) c.79093C= (p.Pro26365=) c.105136C= (p.Pro35046=) c.100534C= (p.Pro33512=) c.100531C= (p.Pro33511=) c.97573C= (p.Pro32525=) c.79189C= (p.Pro26397=) c.100684C= (p.Pro33562=) c.100681C= (p.Pro33561=) c.100114C= (p.Pro33372=) c.97456C= (p.Pro32486=) c.97375C= (p.Pro32459=) c.79138C= (p.Pro26380=) c.68992C= (p.Pro22998=) | |
2 | g.178530372G>T | CA349406452 | TTN,TTN-AS1 | c.98539C>A (p.Pro32847Thr) c.79624C>A (p.Pro26542Thr) c.79423C>A (p.Pro26475Thr) c.79048C>A (p.Pro26350Thr) c.106243C>A (p.Pro35415Thr) c.101320C>A (p.Pro33774Thr) n.446+6736G>T n.220-5360G>T c.105340C>A (p.Pro35114Thr) c.79234C>A (p.Pro26412Thr) c.79093C>A (p.Pro26365Thr) c.105136C>A (p.Pro35046Thr) c.100534C>A (p.Pro33512Thr) c.100531C>A (p.Pro33511Thr) c.97573C>A (p.Pro32525Thr) c.79189C>A (p.Pro26397Thr) c.100684C>A (p.Pro33562Thr) c.100681C>A (p.Pro33561Thr) c.100114C>A (p.Pro33372Thr) c.97456C>A (p.Pro32486Thr) c.97375C>A (p.Pro32459Thr) c.79138C>A (p.Pro26380Thr) c.68992C>A (p.Pro22998Thr) | |
2 | g.178530373T>A | CA349406454 | TTN,TTN-AS1 | c.98538A>T (p.Glu32846Asp) c.79623A>T (p.Glu26541Asp) c.79422A>T (p.Glu26474Asp) c.79047A>T (p.Glu26349Asp) c.106242A>T (p.Glu35414Asp) c.101319A>T (p.Glu33773Asp) n.446+6737T>A n.220-5359T>A c.105339A>T (p.Glu35113Asp) c.79233A>T (p.Glu26411Asp) c.79092A>T (p.Glu26364Asp) c.105135A>T (p.Glu35045Asp) c.100533A>T (p.Glu33511Asp) c.100530A>T (p.Glu33510Asp) c.97572A>T (p.Glu32524Asp) c.79188A>T (p.Glu26396Asp) c.100683A>T (p.Glu33561Asp) c.100680A>T (p.Glu33560Asp) c.100113A>T (p.Glu33371Asp) c.97455A>T (p.Glu32485Asp) c.97374A>T (p.Glu32458Asp) c.79137A>T (p.Glu26379Asp) c.68991A>T (p.Glu22997Asp) | |
2 | g.178530373T>C | CA430235244 | TTN,TTN-AS1 | c.98538A>G (p.Glu32846=) c.79623A>G (p.Glu26541=) c.79422A>G (p.Glu26474=) c.79047A>G (p.Glu26349=) c.106242A>G (p.Glu35414=) c.101319A>G (p.Glu33773=) n.446+6737T>C n.220-5359T>C c.105339A>G (p.Glu35113=) c.79233A>G (p.Glu26411=) c.79092A>G (p.Glu26364=) c.105135A>G (p.Glu35045=) c.100533A>G (p.Glu33511=) c.100530A>G (p.Glu33510=) c.97572A>G (p.Glu32524=) c.79188A>G (p.Glu26396=) c.100683A>G (p.Glu33561=) c.100680A>G (p.Glu33560=) c.100113A>G (p.Glu33371=) c.97455A>G (p.Glu32485=) c.97374A>G (p.Glu32458=) c.79137A>G (p.Glu26379=) c.68991A>G (p.Glu22997=) | |
2 | g.178530373T>G | CA349406456 | TTN,TTN-AS1 | c.98538A>C (p.Glu32846Asp) c.79623A>C (p.Glu26541Asp) c.79422A>C (p.Glu26474Asp) c.79047A>C (p.Glu26349Asp) c.106242A>C (p.Glu35414Asp) c.101319A>C (p.Glu33773Asp) n.446+6737T>G n.220-5359T>G c.105339A>C (p.Glu35113Asp) c.79233A>C (p.Glu26411Asp) c.79092A>C (p.Glu26364Asp) c.105135A>C (p.Glu35045Asp) c.100533A>C (p.Glu33511Asp) c.100530A>C (p.Glu33510Asp) c.97572A>C (p.Glu32524Asp) c.79188A>C (p.Glu26396Asp) c.100683A>C (p.Glu33561Asp) c.100680A>C (p.Glu33560Asp) c.100113A>C (p.Glu33371Asp) c.97455A>C (p.Glu32485Asp) c.97374A>C (p.Glu32458Asp) c.79137A>C (p.Glu26379Asp) c.68991A>C (p.Glu22997Asp) | gnomAD v4 |
2 | g.178530374T>A | CA349406459 | TTN,TTN-AS1 | c.98537A>T (p.Glu32846Val) c.79622A>T (p.Glu26541Val) c.79421A>T (p.Glu26474Val) c.79046A>T (p.Glu26349Val) c.106241A>T (p.Glu35414Val) c.101318A>T (p.Glu33773Val) n.446+6738T>A n.220-5358T>A c.105338A>T (p.Glu35113Val) c.79232A>T (p.Glu26411Val) c.79091A>T (p.Glu26364Val) c.105134A>T (p.Glu35045Val) c.100532A>T (p.Glu33511Val) c.100529A>T (p.Glu33510Val) c.97571A>T (p.Glu32524Val) c.79187A>T (p.Glu26396Val) c.100682A>T (p.Glu33561Val) c.100679A>T (p.Glu33560Val) c.100112A>T (p.Glu33371Val) c.97454A>T (p.Glu32485Val) c.97373A>T (p.Glu32458Val) c.79136A>T (p.Glu26379Val) c.68990A>T (p.Glu22997Val) | |
2 | g.178530374T>C | CA349406460 | TTN,TTN-AS1 | c.98537A>G (p.Glu32846Gly) c.79622A>G (p.Glu26541Gly) c.79421A>G (p.Glu26474Gly) c.79046A>G (p.Glu26349Gly) c.106241A>G (p.Glu35414Gly) c.101318A>G (p.Glu33773Gly) n.446+6738T>C n.220-5358T>C c.105338A>G (p.Glu35113Gly) c.79232A>G (p.Glu26411Gly) c.79091A>G (p.Glu26364Gly) c.105134A>G (p.Glu35045Gly) c.100532A>G (p.Glu33511Gly) c.100529A>G (p.Glu33510Gly) c.97571A>G (p.Glu32524Gly) c.79187A>G (p.Glu26396Gly) c.100682A>G (p.Glu33561Gly) c.100679A>G (p.Glu33560Gly) c.100112A>G (p.Glu33371Gly) c.97454A>G (p.Glu32485Gly) c.97373A>G (p.Glu32458Gly) c.79136A>G (p.Glu26379Gly) c.68990A>G (p.Glu22997Gly) | |
2 | g.178530374T>G | CA349406462 | TTN,TTN-AS1 | c.98537A>C (p.Glu32846Ala) c.79622A>C (p.Glu26541Ala) c.79421A>C (p.Glu26474Ala) c.79046A>C (p.Glu26349Ala) c.106241A>C (p.Glu35414Ala) c.101318A>C (p.Glu33773Ala) n.446+6738T>G n.220-5358T>G c.105338A>C (p.Glu35113Ala) c.79232A>C (p.Glu26411Ala) c.79091A>C (p.Glu26364Ala) c.105134A>C (p.Glu35045Ala) c.100532A>C (p.Glu33511Ala) c.100529A>C (p.Glu33510Ala) c.97571A>C (p.Glu32524Ala) c.79187A>C (p.Glu26396Ala) c.100682A>C (p.Glu33561Ala) c.100679A>C (p.Glu33560Ala) c.100112A>C (p.Glu33371Ala) c.97454A>C (p.Glu32485Ala) c.97373A>C (p.Glu32458Ala) c.79136A>C (p.Glu26379Ala) c.68990A>C (p.Glu22997Ala) | |
2 | g.178530375C>A | CA349406467 | TTN,TTN-AS1 | c.98536G>T (p.Glu32846Ter) c.79621G>T (p.Glu26541Ter) c.79420G>T (p.Glu26474Ter) c.79045G>T (p.Glu26349Ter) c.106240G>T (p.Glu35414Ter) c.101317G>T (p.Glu33773Ter) n.446+6739C>A n.220-5357C>A c.105337G>T (p.Glu35113Ter) c.79231G>T (p.Glu26411Ter) c.79090G>T (p.Glu26364Ter) c.105133G>T (p.Glu35045Ter) c.100531G>T (p.Glu33511Ter) c.100528G>T (p.Glu33510Ter) c.97570G>T (p.Glu32524Ter) c.79186G>T (p.Glu26396Ter) c.100681G>T (p.Glu33561Ter) c.100678G>T (p.Glu33560Ter) c.100111G>T (p.Glu33371Ter) c.97453G>T (p.Glu32485Ter) c.97372G>T (p.Glu32458Ter) c.79135G>T (p.Glu26379Ter) c.68989G>T (p.Glu22997Ter) | |
2 | g.178530375C= | CA1310514563 | TTN,TTN-AS1 | c.98536G= (p.Glu32846=) c.79621G= (p.Glu26541=) c.79420G= (p.Glu26474=) c.79045G= (p.Glu26349=) c.106240G= (p.Glu35414=) c.101317G= (p.Glu33773=) n.446+6739C= n.220-5357C= c.105337G= (p.Glu35113=) c.79231G= (p.Glu26411=) c.79090G= (p.Glu26364=) c.105133G= (p.Glu35045=) c.100531G= (p.Glu33511=) c.100528G= (p.Glu33510=) c.97570G= (p.Glu32524=) c.79186G= (p.Glu26396=) c.100681G= (p.Glu33561=) c.100678G= (p.Glu33560=) c.100111G= (p.Glu33371=) c.97453G= (p.Glu32485=) c.97372G= (p.Glu32458=) c.79135G= (p.Glu26379=) c.68989G= (p.Glu22997=) | |
2 | g.178530375C>G | CA349406469 | TTN,TTN-AS1 | c.98536G>C (p.Glu32846Gln) c.79621G>C (p.Glu26541Gln) c.79420G>C (p.Glu26474Gln) c.79045G>C (p.Glu26349Gln) c.106240G>C (p.Glu35414Gln) c.101317G>C (p.Glu33773Gln) n.446+6739C>G n.220-5357C>G c.105337G>C (p.Glu35113Gln) c.79231G>C (p.Glu26411Gln) c.79090G>C (p.Glu26364Gln) c.105133G>C (p.Glu35045Gln) c.100531G>C (p.Glu33511Gln) c.100528G>C (p.Glu33510Gln) c.97570G>C (p.Glu32524Gln) c.79186G>C (p.Glu26396Gln) c.100681G>C (p.Glu33561Gln) c.100678G>C (p.Glu33560Gln) c.100111G>C (p.Glu33371Gln) c.97453G>C (p.Glu32485Gln) c.97372G>C (p.Glu32458Gln) c.79135G>C (p.Glu26379Gln) c.68989G>C (p.Glu22997Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530375C>T | CA349406465 | TTN,TTN-AS1 | c.98536G>A (p.Glu32846Lys) c.79621G>A (p.Glu26541Lys) c.79420G>A (p.Glu26474Lys) c.79045G>A (p.Glu26349Lys) c.106240G>A (p.Glu35414Lys) c.101317G>A (p.Glu33773Lys) n.446+6739C>T n.220-5357C>T c.105337G>A (p.Glu35113Lys) c.79231G>A (p.Glu26411Lys) c.79090G>A (p.Glu26364Lys) c.105133G>A (p.Glu35045Lys) c.100531G>A (p.Glu33511Lys) c.100528G>A (p.Glu33510Lys) c.97570G>A (p.Glu32524Lys) c.79186G>A (p.Glu26396Lys) c.100681G>A (p.Glu33561Lys) c.100678G>A (p.Glu33560Lys) c.100111G>A (p.Glu33371Lys) c.97453G>A (p.Glu32485Lys) c.97372G>A (p.Glu32458Lys) c.79135G>A (p.Glu26379Lys) c.68989G>A (p.Glu22997Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530376A= | CA1310514566 | TTN,TTN-AS1 | c.98535T= (p.Pro32845=) c.79620T= (p.Pro26540=) c.79419T= (p.Pro26473=) c.79044T= (p.Pro26348=) c.106239T= (p.Pro35413=) c.101316T= (p.Pro33772=) n.446+6740A= n.220-5356A= c.105336T= (p.Pro35112=) c.79230T= (p.Pro26410=) c.79089T= (p.Pro26363=) c.105132T= (p.Pro35044=) c.100530T= (p.Pro33510=) c.100527T= (p.Pro33509=) c.97569T= (p.Pro32523=) c.79185T= (p.Pro26395=) c.100680T= (p.Pro33560=) c.100677T= (p.Pro33559=) c.100110T= (p.Pro33370=) c.97452T= (p.Pro32484=) c.97371T= (p.Pro32457=) c.79134T= (p.Pro26378=) c.68988T= (p.Pro22996=) | |
2 | g.178530376A>C | CA430235246 | TTN,TTN-AS1 | c.98535T>G (p.Pro32845=) c.79620T>G (p.Pro26540=) c.79419T>G (p.Pro26473=) c.79044T>G (p.Pro26348=) c.106239T>G (p.Pro35413=) c.101316T>G (p.Pro33772=) n.446+6740A>C n.220-5356A>C c.105336T>G (p.Pro35112=) c.79230T>G (p.Pro26410=) c.79089T>G (p.Pro26363=) c.105132T>G (p.Pro35044=) c.100530T>G (p.Pro33510=) c.100527T>G (p.Pro33509=) c.97569T>G (p.Pro32523=) c.79185T>G (p.Pro26395=) c.100680T>G (p.Pro33560=) c.100677T>G (p.Pro33559=) c.100110T>G (p.Pro33370=) c.97452T>G (p.Pro32484=) c.97371T>G (p.Pro32457=) c.79134T>G (p.Pro26378=) c.68988T>G (p.Pro22996=) | |
2 | g.178530376A>G | CA430235247 | TTN,TTN-AS1 | c.98535T>C (p.Pro32845=) c.79620T>C (p.Pro26540=) c.79419T>C (p.Pro26473=) c.79044T>C (p.Pro26348=) c.106239T>C (p.Pro35413=) c.101316T>C (p.Pro33772=) n.446+6740A>G n.220-5356A>G c.105336T>C (p.Pro35112=) c.79230T>C (p.Pro26410=) c.79089T>C (p.Pro26363=) c.105132T>C (p.Pro35044=) c.100530T>C (p.Pro33510=) c.100527T>C (p.Pro33509=) c.97569T>C (p.Pro32523=) c.79185T>C (p.Pro26395=) c.100680T>C (p.Pro33560=) c.100677T>C (p.Pro33559=) c.100110T>C (p.Pro33370=) c.97452T>C (p.Pro32484=) c.97371T>C (p.Pro32457=) c.79134T>C (p.Pro26378=) c.68988T>C (p.Pro22996=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530376A>T | CA430235248 | TTN,TTN-AS1 | c.98535T>A (p.Pro32845=) c.79620T>A (p.Pro26540=) c.79419T>A (p.Pro26473=) c.79044T>A (p.Pro26348=) c.106239T>A (p.Pro35413=) c.101316T>A (p.Pro33772=) n.446+6740A>T n.220-5356A>T c.105336T>A (p.Pro35112=) c.79230T>A (p.Pro26410=) c.79089T>A (p.Pro26363=) c.105132T>A (p.Pro35044=) c.100530T>A (p.Pro33510=) c.100527T>A (p.Pro33509=) c.97569T>A (p.Pro32523=) c.79185T>A (p.Pro26395=) c.100680T>A (p.Pro33560=) c.100677T>A (p.Pro33559=) c.100110T>A (p.Pro33370=) c.97452T>A (p.Pro32484=) c.97371T>A (p.Pro32457=) c.79134T>A (p.Pro26378=) c.68988T>A (p.Pro22996=) | |
2 | g.178530377G>A | CA349406472 | TTN,TTN-AS1 | c.98534C>T (p.Pro32845Leu) c.79619C>T (p.Pro26540Leu) c.79418C>T (p.Pro26473Leu) c.79043C>T (p.Pro26348Leu) c.106238C>T (p.Pro35413Leu) c.101315C>T (p.Pro33772Leu) n.446+6741G>A n.220-5355G>A c.105335C>T (p.Pro35112Leu) c.79229C>T (p.Pro26410Leu) c.79088C>T (p.Pro26363Leu) c.105131C>T (p.Pro35044Leu) c.100529C>T (p.Pro33510Leu) c.100526C>T (p.Pro33509Leu) c.97568C>T (p.Pro32523Leu) c.79184C>T (p.Pro26395Leu) c.100679C>T (p.Pro33560Leu) c.100676C>T (p.Pro33559Leu) c.100109C>T (p.Pro33370Leu) c.97451C>T (p.Pro32484Leu) c.97370C>T (p.Pro32457Leu) c.79133C>T (p.Pro26378Leu) c.68987C>T (p.Pro22996Leu) | |
2 | g.178530377G>C | CA349406474 | TTN,TTN-AS1 | c.98534C>G (p.Pro32845Arg) c.79619C>G (p.Pro26540Arg) c.79418C>G (p.Pro26473Arg) c.79043C>G (p.Pro26348Arg) c.106238C>G (p.Pro35413Arg) c.101315C>G (p.Pro33772Arg) n.446+6741G>C n.220-5355G>C c.105335C>G (p.Pro35112Arg) c.79229C>G (p.Pro26410Arg) c.79088C>G (p.Pro26363Arg) c.105131C>G (p.Pro35044Arg) c.100529C>G (p.Pro33510Arg) c.100526C>G (p.Pro33509Arg) c.97568C>G (p.Pro32523Arg) c.79184C>G (p.Pro26395Arg) c.100679C>G (p.Pro33560Arg) c.100676C>G (p.Pro33559Arg) c.100109C>G (p.Pro33370Arg) c.97451C>G (p.Pro32484Arg) c.97370C>G (p.Pro32457Arg) c.79133C>G (p.Pro26378Arg) c.68987C>G (p.Pro22996Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.178530377G= | CA1310514568 | TTN,TTN-AS1 | c.98534C= (p.Pro32845=) c.79619C= (p.Pro26540=) c.79418C= (p.Pro26473=) c.79043C= (p.Pro26348=) c.106238C= (p.Pro35413=) c.101315C= (p.Pro33772=) n.446+6741G= n.220-5355G= c.105335C= (p.Pro35112=) c.79229C= (p.Pro26410=) c.79088C= (p.Pro26363=) c.105131C= (p.Pro35044=) c.100529C= (p.Pro33510=) c.100526C= (p.Pro33509=) c.97568C= (p.Pro32523=) c.79184C= (p.Pro26395=) c.100679C= (p.Pro33560=) c.100676C= (p.Pro33559=) c.100109C= (p.Pro33370=) c.97451C= (p.Pro32484=) c.97370C= (p.Pro32457=) c.79133C= (p.Pro26378=) c.68987C= (p.Pro22996=) | |
2 | g.178530377G>T | CA349406476 | TTN,TTN-AS1 | c.98534C>A (p.Pro32845His) c.79619C>A (p.Pro26540His) c.79418C>A (p.Pro26473His) c.79043C>A (p.Pro26348His) c.106238C>A (p.Pro35413His) c.101315C>A (p.Pro33772His) n.446+6741G>T n.220-5355G>T c.105335C>A (p.Pro35112His) c.79229C>A (p.Pro26410His) c.79088C>A (p.Pro26363His) c.105131C>A (p.Pro35044His) c.100529C>A (p.Pro33510His) c.100526C>A (p.Pro33509His) c.97568C>A (p.Pro32523His) c.79184C>A (p.Pro26395His) c.100679C>A (p.Pro33560His) c.100676C>A (p.Pro33559His) c.100109C>A (p.Pro33370His) c.97451C>A (p.Pro32484His) c.97370C>A (p.Pro32457His) c.79133C>A (p.Pro26378His) c.68987C>A (p.Pro22996His) | |
2 | g.178530378G>A | CA349406478 | TTN,TTN-AS1 | c.98533C>T (p.Pro32845Ser) c.79618C>T (p.Pro26540Ser) c.79417C>T (p.Pro26473Ser) c.79042C>T (p.Pro26348Ser) c.106237C>T (p.Pro35413Ser) c.101314C>T (p.Pro33772Ser) n.446+6742G>A n.220-5354G>A c.105334C>T (p.Pro35112Ser) c.79228C>T (p.Pro26410Ser) c.79087C>T (p.Pro26363Ser) c.105130C>T (p.Pro35044Ser) c.100528C>T (p.Pro33510Ser) c.100525C>T (p.Pro33509Ser) c.97567C>T (p.Pro32523Ser) c.79183C>T (p.Pro26395Ser) c.100678C>T (p.Pro33560Ser) c.100675C>T (p.Pro33559Ser) c.100108C>T (p.Pro33370Ser) c.97450C>T (p.Pro32484Ser) c.97369C>T (p.Pro32457Ser) c.79132C>T (p.Pro26378Ser) c.68986C>T (p.Pro22996Ser) | |
2 | g.178530378G>C | CA349406481 | TTN,TTN-AS1 | c.98533C>G (p.Pro32845Ala) c.79618C>G (p.Pro26540Ala) c.79417C>G (p.Pro26473Ala) c.79042C>G (p.Pro26348Ala) c.106237C>G (p.Pro35413Ala) c.101314C>G (p.Pro33772Ala) n.446+6742G>C n.220-5354G>C c.105334C>G (p.Pro35112Ala) c.79228C>G (p.Pro26410Ala) c.79087C>G (p.Pro26363Ala) c.105130C>G (p.Pro35044Ala) c.100528C>G (p.Pro33510Ala) c.100525C>G (p.Pro33509Ala) c.97567C>G (p.Pro32523Ala) c.79183C>G (p.Pro26395Ala) c.100678C>G (p.Pro33560Ala) c.100675C>G (p.Pro33559Ala) c.100108C>G (p.Pro33370Ala) c.97450C>G (p.Pro32484Ala) c.97369C>G (p.Pro32457Ala) c.79132C>G (p.Pro26378Ala) c.68986C>G (p.Pro22996Ala) | |
2 | g.178530378G>T | CA349406483 | TTN,TTN-AS1 | c.98533C>A (p.Pro32845Thr) c.79618C>A (p.Pro26540Thr) c.79417C>A (p.Pro26473Thr) c.79042C>A (p.Pro26348Thr) c.106237C>A (p.Pro35413Thr) c.101314C>A (p.Pro33772Thr) n.446+6742G>T n.220-5354G>T c.105334C>A (p.Pro35112Thr) c.79228C>A (p.Pro26410Thr) c.79087C>A (p.Pro26363Thr) c.105130C>A (p.Pro35044Thr) c.100528C>A (p.Pro33510Thr) c.100525C>A (p.Pro33509Thr) c.97567C>A (p.Pro32523Thr) c.79183C>A (p.Pro26395Thr) c.100678C>A (p.Pro33560Thr) c.100675C>A (p.Pro33559Thr) c.100108C>A (p.Pro33370Thr) c.97450C>A (p.Pro32484Thr) c.97369C>A (p.Pro32457Thr) c.79132C>A (p.Pro26378Thr) c.68986C>A (p.Pro22996Thr) | |
2 | g.178530379A>C | CA430235252 | TTN,TTN-AS1 | c.98532T>G (p.Ala32844=) c.79617T>G (p.Ala26539=) c.79416T>G (p.Ala26472=) c.79041T>G (p.Ala26347=) c.106236T>G (p.Ala35412=) c.101313T>G (p.Ala33771=) n.446+6743A>C n.220-5353A>C c.105333T>G (p.Ala35111=) c.79227T>G (p.Ala26409=) c.79086T>G (p.Ala26362=) c.105129T>G (p.Ala35043=) c.100527T>G (p.Ala33509=) c.100524T>G (p.Ala33508=) c.97566T>G (p.Ala32522=) c.79182T>G (p.Ala26394=) c.100677T>G (p.Ala33559=) c.100674T>G (p.Ala33558=) c.100107T>G (p.Ala33369=) c.97449T>G (p.Ala32483=) c.97368T>G (p.Ala32456=) c.79131T>G (p.Ala26377=) c.68985T>G (p.Ala22995=) | |
2 | g.178530379A>G | CA430235253 | TTN,TTN-AS1 | c.98532T>C (p.Ala32844=) c.79617T>C (p.Ala26539=) c.79416T>C (p.Ala26472=) c.79041T>C (p.Ala26347=) c.106236T>C (p.Ala35412=) c.101313T>C (p.Ala33771=) n.446+6743A>G n.220-5353A>G c.105333T>C (p.Ala35111=) c.79227T>C (p.Ala26409=) c.79086T>C (p.Ala26362=) c.105129T>C (p.Ala35043=) c.100527T>C (p.Ala33509=) c.100524T>C (p.Ala33508=) c.97566T>C (p.Ala32522=) c.79182T>C (p.Ala26394=) c.100677T>C (p.Ala33559=) c.100674T>C (p.Ala33558=) c.100107T>C (p.Ala33369=) c.97449T>C (p.Ala32483=) c.97368T>C (p.Ala32456=) c.79131T>C (p.Ala26377=) c.68985T>C (p.Ala22995=) | |
2 | g.178530379A>T | CA430235254 | TTN,TTN-AS1 | c.98532T>A (p.Ala32844=) c.79617T>A (p.Ala26539=) c.79416T>A (p.Ala26472=) c.79041T>A (p.Ala26347=) c.106236T>A (p.Ala35412=) c.101313T>A (p.Ala33771=) n.446+6743A>T n.220-5353A>T c.105333T>A (p.Ala35111=) c.79227T>A (p.Ala26409=) c.79086T>A (p.Ala26362=) c.105129T>A (p.Ala35043=) c.100527T>A (p.Ala33509=) c.100524T>A (p.Ala33508=) c.97566T>A (p.Ala32522=) c.79182T>A (p.Ala26394=) c.100677T>A (p.Ala33559=) c.100674T>A (p.Ala33558=) c.100107T>A (p.Ala33369=) c.97449T>A (p.Ala32483=) c.97368T>A (p.Ala32456=) c.79131T>A (p.Ala26377=) c.68985T>A (p.Ala22995=) | |
2 | g.178530380G>A | CA349406489 | TTN,TTN-AS1 | c.98531C>T (p.Ala32844Val) c.79616C>T (p.Ala26539Val) c.79415C>T (p.Ala26472Val) c.79040C>T (p.Ala26347Val) c.106235C>T (p.Ala35412Val) c.101312C>T (p.Ala33771Val) n.446+6744G>A n.220-5352G>A c.105332C>T (p.Ala35111Val) c.79226C>T (p.Ala26409Val) c.79085C>T (p.Ala26362Val) c.105128C>T (p.Ala35043Val) c.100526C>T (p.Ala33509Val) c.100523C>T (p.Ala33508Val) c.97565C>T (p.Ala32522Val) c.79181C>T (p.Ala26394Val) c.100676C>T (p.Ala33559Val) c.100673C>T (p.Ala33558Val) c.100106C>T (p.Ala33369Val) c.97448C>T (p.Ala32483Val) c.97367C>T (p.Ala32456Val) c.79130C>T (p.Ala26377Val) c.68984C>T (p.Ala22995Val) | |
2 | g.178530380G>C | CA349406485 | TTN,TTN-AS1 | c.98531C>G (p.Ala32844Gly) c.79616C>G (p.Ala26539Gly) c.79415C>G (p.Ala26472Gly) c.79040C>G (p.Ala26347Gly) c.106235C>G (p.Ala35412Gly) c.101312C>G (p.Ala33771Gly) n.446+6744G>C n.220-5352G>C c.105332C>G (p.Ala35111Gly) c.79226C>G (p.Ala26409Gly) c.79085C>G (p.Ala26362Gly) c.105128C>G (p.Ala35043Gly) c.100526C>G (p.Ala33509Gly) c.100523C>G (p.Ala33508Gly) c.97565C>G (p.Ala32522Gly) c.79181C>G (p.Ala26394Gly) c.100676C>G (p.Ala33559Gly) c.100673C>G (p.Ala33558Gly) c.100106C>G (p.Ala33369Gly) c.97448C>G (p.Ala32483Gly) c.97367C>G (p.Ala32456Gly) c.79130C>G (p.Ala26377Gly) c.68984C>G (p.Ala22995Gly) | |
2 | g.178530380G>T | CA349406487 | TTN,TTN-AS1 | c.98531C>A (p.Ala32844Asp) c.79616C>A (p.Ala26539Asp) c.79415C>A (p.Ala26472Asp) c.79040C>A (p.Ala26347Asp) c.106235C>A (p.Ala35412Asp) c.101312C>A (p.Ala33771Asp) n.446+6744G>T n.220-5352G>T c.105332C>A (p.Ala35111Asp) c.79226C>A (p.Ala26409Asp) c.79085C>A (p.Ala26362Asp) c.105128C>A (p.Ala35043Asp) c.100526C>A (p.Ala33509Asp) c.100523C>A (p.Ala33508Asp) c.97565C>A (p.Ala32522Asp) c.79181C>A (p.Ala26394Asp) c.100676C>A (p.Ala33559Asp) c.100673C>A (p.Ala33558Asp) c.100106C>A (p.Ala33369Asp) c.97448C>A (p.Ala32483Asp) c.97367C>A (p.Ala32456Asp) c.79130C>A (p.Ala26377Asp) c.68984C>A (p.Ala22995Asp) | |
2 | g.178530381C>A | CA349406491 | TTN,TTN-AS1 | c.98530G>T (p.Ala32844Ser) c.79615G>T (p.Ala26539Ser) c.79414G>T (p.Ala26472Ser) c.79039G>T (p.Ala26347Ser) c.106234G>T (p.Ala35412Ser) c.101311G>T (p.Ala33771Ser) n.446+6745C>A n.220-5351C>A c.105331G>T (p.Ala35111Ser) c.79225G>T (p.Ala26409Ser) c.79084G>T (p.Ala26362Ser) c.105127G>T (p.Ala35043Ser) c.100525G>T (p.Ala33509Ser) c.100522G>T (p.Ala33508Ser) c.97564G>T (p.Ala32522Ser) c.79180G>T (p.Ala26394Ser) c.100675G>T (p.Ala33559Ser) c.100672G>T (p.Ala33558Ser) c.100105G>T (p.Ala33369Ser) c.97447G>T (p.Ala32483Ser) c.97366G>T (p.Ala32456Ser) c.79129G>T (p.Ala26377Ser) c.68983G>T (p.Ala22995Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530381C= | CA1310514570 | TTN,TTN-AS1 | c.98530G= (p.Ala32844=) c.79615G= (p.Ala26539=) c.79414G= (p.Ala26472=) c.79039G= (p.Ala26347=) c.106234G= (p.Ala35412=) c.101311G= (p.Ala33771=) n.446+6745C= n.220-5351C= c.105331G= (p.Ala35111=) c.79225G= (p.Ala26409=) c.79084G= (p.Ala26362=) c.105127G= (p.Ala35043=) c.100525G= (p.Ala33509=) c.100522G= (p.Ala33508=) c.97564G= (p.Ala32522=) c.79180G= (p.Ala26394=) c.100675G= (p.Ala33559=) c.100672G= (p.Ala33558=) c.100105G= (p.Ala33369=) c.97447G= (p.Ala32483=) c.97366G= (p.Ala32456=) c.79129G= (p.Ala26377=) c.68983G= (p.Ala22995=) | |
2 | g.178530381C>G | CA1985142 | TTN,TTN-AS1 | c.98530G>C (p.Ala32844Pro) c.79615G>C (p.Ala26539Pro) c.79414G>C (p.Ala26472Pro) c.79039G>C (p.Ala26347Pro) c.106234G>C (p.Ala35412Pro) c.101311G>C (p.Ala33771Pro) n.446+6745C>G n.220-5351C>G c.105331G>C (p.Ala35111Pro) c.79225G>C (p.Ala26409Pro) c.79084G>C (p.Ala26362Pro) c.105127G>C (p.Ala35043Pro) c.100525G>C (p.Ala33509Pro) c.100522G>C (p.Ala33508Pro) c.97564G>C (p.Ala32522Pro) c.79180G>C (p.Ala26394Pro) c.100675G>C (p.Ala33559Pro) c.100672G>C (p.Ala33558Pro) c.100105G>C (p.Ala33369Pro) c.97447G>C (p.Ala32483Pro) c.97366G>C (p.Ala32456Pro) c.79129G>C (p.Ala26377Pro) c.68983G>C (p.Ala22995Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530381C>T | CA349406494 | TTN,TTN-AS1 | c.98530G>A (p.Ala32844Thr) c.79615G>A (p.Ala26539Thr) c.79414G>A (p.Ala26472Thr) c.79039G>A (p.Ala26347Thr) c.106234G>A (p.Ala35412Thr) c.101311G>A (p.Ala33771Thr) n.446+6745C>T n.220-5351C>T c.105331G>A (p.Ala35111Thr) c.79225G>A (p.Ala26409Thr) c.79084G>A (p.Ala26362Thr) c.105127G>A (p.Ala35043Thr) c.100525G>A (p.Ala33509Thr) c.100522G>A (p.Ala33508Thr) c.97564G>A (p.Ala32522Thr) c.79180G>A (p.Ala26394Thr) c.100675G>A (p.Ala33559Thr) c.100672G>A (p.Ala33558Thr) c.100105G>A (p.Ala33369Thr) c.97447G>A (p.Ala32483Thr) c.97366G>A (p.Ala32456Thr) c.79129G>A (p.Ala26377Thr) c.68983G>A (p.Ala22995Thr) | |
2 | g.178530382T>A | CA349406495 | TTN,TTN-AS1 | c.98529A>T (p.Lys32843Asn) c.79614A>T (p.Lys26538Asn) c.79413A>T (p.Lys26471Asn) c.79038A>T (p.Lys26346Asn) c.106233A>T (p.Lys35411Asn) c.101310A>T (p.Lys33770Asn) n.446+6746T>A n.220-5350T>A c.105330A>T (p.Lys35110Asn) c.79224A>T (p.Lys26408Asn) c.79083A>T (p.Lys26361Asn) c.105126A>T (p.Lys35042Asn) c.100524A>T (p.Lys33508Asn) c.100521A>T (p.Lys33507Asn) c.97563A>T (p.Lys32521Asn) c.79179A>T (p.Lys26393Asn) c.100674A>T (p.Lys33558Asn) c.100671A>T (p.Lys33557Asn) c.100104A>T (p.Lys33368Asn) c.97446A>T (p.Lys32482Asn) c.97365A>T (p.Lys32455Asn) c.79128A>T (p.Lys26376Asn) c.68982A>T (p.Lys22994Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530382T>C | CA430235257 | TTN,TTN-AS1 | c.98529A>G (p.Lys32843=) c.79614A>G (p.Lys26538=) c.79413A>G (p.Lys26471=) c.79038A>G (p.Lys26346=) c.106233A>G (p.Lys35411=) c.101310A>G (p.Lys33770=) n.446+6746T>C n.220-5350T>C c.105330A>G (p.Lys35110=) c.79224A>G (p.Lys26408=) c.79083A>G (p.Lys26361=) c.105126A>G (p.Lys35042=) c.100524A>G (p.Lys33508=) c.100521A>G (p.Lys33507=) c.97563A>G (p.Lys32521=) c.79179A>G (p.Lys26393=) c.100674A>G (p.Lys33558=) c.100671A>G (p.Lys33557=) c.100104A>G (p.Lys33368=) c.97446A>G (p.Lys32482=) c.97365A>G (p.Lys32455=) c.79128A>G (p.Lys26376=) c.68982A>G (p.Lys22994=) | ClinVar dbSNP |
2 | g.178530382T>G | CA349406497 | TTN,TTN-AS1 | c.98529A>C (p.Lys32843Asn) c.79614A>C (p.Lys26538Asn) c.79413A>C (p.Lys26471Asn) c.79038A>C (p.Lys26346Asn) c.106233A>C (p.Lys35411Asn) c.101310A>C (p.Lys33770Asn) n.446+6746T>G n.220-5350T>G c.105330A>C (p.Lys35110Asn) c.79224A>C (p.Lys26408Asn) c.79083A>C (p.Lys26361Asn) c.105126A>C (p.Lys35042Asn) c.100524A>C (p.Lys33508Asn) c.100521A>C (p.Lys33507Asn) c.97563A>C (p.Lys32521Asn) c.79179A>C (p.Lys26393Asn) c.100674A>C (p.Lys33558Asn) c.100671A>C (p.Lys33557Asn) c.100104A>C (p.Lys33368Asn) c.97446A>C (p.Lys32482Asn) c.97365A>C (p.Lys32455Asn) c.79128A>C (p.Lys26376Asn) c.68982A>C (p.Lys22994Asn) | |
2 | g.178530382T= | CA1310514572 | TTN,TTN-AS1 | c.98529A= (p.Lys32843=) c.79614A= (p.Lys26538=) c.79413A= (p.Lys26471=) c.79038A= (p.Lys26346=) c.106233A= (p.Lys35411=) c.101310A= (p.Lys33770=) n.446+6746T= n.220-5350T= c.105330A= (p.Lys35110=) c.79224A= (p.Lys26408=) c.79083A= (p.Lys26361=) c.105126A= (p.Lys35042=) c.100524A= (p.Lys33508=) c.100521A= (p.Lys33507=) c.97563A= (p.Lys32521=) c.79179A= (p.Lys26393=) c.100674A= (p.Lys33558=) c.100671A= (p.Lys33557=) c.100104A= (p.Lys33368=) c.97446A= (p.Lys32482=) c.97365A= (p.Lys32455=) c.79128A= (p.Lys26376=) c.68982A= (p.Lys22994=) | |
2 | g.178530385del | CA2586970735 | TTN,TTN-AS1 | c.98529del (p.Ala32844LeufsTer10) c.79614del (p.Ala26539LeufsTer10) c.79413del (p.Ala26472LeufsTer10) c.79038del (p.Ala26347LeufsTer10) c.106233del (p.Ala35412LeufsTer10) c.101310del (p.Ala33771LeufsTer10) n.446+6749del n.220-5347del c.105330del (p.Ala35111LeufsTer10) c.79224del (p.Ala26409LeufsTer10) c.79083del (p.Ala26362LeufsTer10) c.105126del (p.Ala35043LeufsTer10) c.100524del (p.Ala33509LeufsTer10) c.100521del (p.Ala33508LeufsTer10) c.97563del (p.Ala32522LeufsTer10) c.79179del (p.Ala26394LeufsTer10) c.100674del (p.Ala33559LeufsTer10) c.100671del (p.Ala33558LeufsTer10) c.100104del (p.Ala33369LeufsTer10) c.97446del (p.Ala32483LeufsTer10) c.97365del (p.Ala32456LeufsTer10) c.79128del (p.Ala26377LeufsTer10) c.68982del (p.Ala22995LeufsTer10) | gnomAD v4 |
2 | g.178530383T>A | CA349406499 | TTN,TTN-AS1 | c.98528A>T (p.Lys32843Ile) c.79613A>T (p.Lys26538Ile) c.79412A>T (p.Lys26471Ile) c.79037A>T (p.Lys26346Ile) c.106232A>T (p.Lys35411Ile) c.101309A>T (p.Lys33770Ile) n.446+6747T>A n.220-5349T>A c.105329A>T (p.Lys35110Ile) c.79223A>T (p.Lys26408Ile) c.79082A>T (p.Lys26361Ile) c.105125A>T (p.Lys35042Ile) c.100523A>T (p.Lys33508Ile) c.100520A>T (p.Lys33507Ile) c.97562A>T (p.Lys32521Ile) c.79178A>T (p.Lys26393Ile) c.100673A>T (p.Lys33558Ile) c.100670A>T (p.Lys33557Ile) c.100103A>T (p.Lys33368Ile) c.97445A>T (p.Lys32482Ile) c.97364A>T (p.Lys32455Ile) c.79127A>T (p.Lys26376Ile) c.68981A>T (p.Lys22994Ile) | |
2 | g.178530383T>C | CA349406503 | TTN,TTN-AS1 | c.98528A>G (p.Lys32843Arg) c.79613A>G (p.Lys26538Arg) c.79412A>G (p.Lys26471Arg) c.79037A>G (p.Lys26346Arg) c.106232A>G (p.Lys35411Arg) c.101309A>G (p.Lys33770Arg) n.446+6747T>C n.220-5349T>C c.105329A>G (p.Lys35110Arg) c.79223A>G (p.Lys26408Arg) c.79082A>G (p.Lys26361Arg) c.105125A>G (p.Lys35042Arg) c.100523A>G (p.Lys33508Arg) c.100520A>G (p.Lys33507Arg) c.97562A>G (p.Lys32521Arg) c.79178A>G (p.Lys26393Arg) c.100673A>G (p.Lys33558Arg) c.100670A>G (p.Lys33557Arg) c.100103A>G (p.Lys33368Arg) c.97445A>G (p.Lys32482Arg) c.97364A>G (p.Lys32455Arg) c.79127A>G (p.Lys26376Arg) c.68981A>G (p.Lys22994Arg) | |
2 | g.178530383T>G | CA349406501 | TTN,TTN-AS1 | c.98528A>C (p.Lys32843Thr) c.79613A>C (p.Lys26538Thr) c.79412A>C (p.Lys26471Thr) c.79037A>C (p.Lys26346Thr) c.106232A>C (p.Lys35411Thr) c.101309A>C (p.Lys33770Thr) n.446+6747T>G n.220-5349T>G c.105329A>C (p.Lys35110Thr) c.79223A>C (p.Lys26408Thr) c.79082A>C (p.Lys26361Thr) c.105125A>C (p.Lys35042Thr) c.100523A>C (p.Lys33508Thr) c.100520A>C (p.Lys33507Thr) c.97562A>C (p.Lys32521Thr) c.79178A>C (p.Lys26393Thr) c.100673A>C (p.Lys33558Thr) c.100670A>C (p.Lys33557Thr) c.100103A>C (p.Lys33368Thr) c.97445A>C (p.Lys32482Thr) c.97364A>C (p.Lys32455Thr) c.79127A>C (p.Lys26376Thr) c.68981A>C (p.Lys22994Thr) | |
2 | g.178530384T>A | CA349406506 | TTN,TTN-AS1 | c.98527A>T (p.Lys32843Ter) c.79612A>T (p.Lys26538Ter) c.79411A>T (p.Lys26471Ter) c.79036A>T (p.Lys26346Ter) c.106231A>T (p.Lys35411Ter) c.101308A>T (p.Lys33770Ter) n.446+6748T>A n.220-5348T>A c.105328A>T (p.Lys35110Ter) c.79222A>T (p.Lys26408Ter) c.79081A>T (p.Lys26361Ter) c.105124A>T (p.Lys35042Ter) c.100522A>T (p.Lys33508Ter) c.100519A>T (p.Lys33507Ter) c.97561A>T (p.Lys32521Ter) c.79177A>T (p.Lys26393Ter) c.100672A>T (p.Lys33558Ter) c.100669A>T (p.Lys33557Ter) c.100102A>T (p.Lys33368Ter) c.97444A>T (p.Lys32482Ter) c.97363A>T (p.Lys32455Ter) c.79126A>T (p.Lys26376Ter) c.68980A>T (p.Lys22994Ter) | |
2 | g.178530384T>C | CA349406508 | TTN,TTN-AS1 | c.98527A>G (p.Lys32843Glu) c.79612A>G (p.Lys26538Glu) c.79411A>G (p.Lys26471Glu) c.79036A>G (p.Lys26346Glu) c.106231A>G (p.Lys35411Glu) c.101308A>G (p.Lys33770Glu) n.446+6748T>C n.220-5348T>C c.105328A>G (p.Lys35110Glu) c.79222A>G (p.Lys26408Glu) c.79081A>G (p.Lys26361Glu) c.105124A>G (p.Lys35042Glu) c.100522A>G (p.Lys33508Glu) c.100519A>G (p.Lys33507Glu) c.97561A>G (p.Lys32521Glu) c.79177A>G (p.Lys26393Glu) c.100672A>G (p.Lys33558Glu) c.100669A>G (p.Lys33557Glu) c.100102A>G (p.Lys33368Glu) c.97444A>G (p.Lys32482Glu) c.97363A>G (p.Lys32455Glu) c.79126A>G (p.Lys26376Glu) c.68980A>G (p.Lys22994Glu) | |
2 | g.178530384T>G | CA349406511 | TTN,TTN-AS1 | c.98527A>C (p.Lys32843Gln) c.79612A>C (p.Lys26538Gln) c.79411A>C (p.Lys26471Gln) c.79036A>C (p.Lys26346Gln) c.106231A>C (p.Lys35411Gln) c.101308A>C (p.Lys33770Gln) n.446+6748T>G n.220-5348T>G c.105328A>C (p.Lys35110Gln) c.79222A>C (p.Lys26408Gln) c.79081A>C (p.Lys26361Gln) c.105124A>C (p.Lys35042Gln) c.100522A>C (p.Lys33508Gln) c.100519A>C (p.Lys33507Gln) c.97561A>C (p.Lys32521Gln) c.79177A>C (p.Lys26393Gln) c.100672A>C (p.Lys33558Gln) c.100669A>C (p.Lys33557Gln) c.100102A>C (p.Lys33368Gln) c.97444A>C (p.Lys32482Gln) c.97363A>C (p.Lys32455Gln) c.79126A>C (p.Lys26376Gln) c.68980A>C (p.Lys22994Gln) | |
2 | g.178530385T>A | CA430235259 | TTN,TTN-AS1 | c.98526A>T (p.Pro32842=) c.79611A>T (p.Pro26537=) c.79410A>T (p.Pro26470=) c.79035A>T (p.Pro26345=) c.106230A>T (p.Pro35410=) c.101307A>T (p.Pro33769=) n.446+6749T>A n.220-5347T>A c.105327A>T (p.Pro35109=) c.79221A>T (p.Pro26407=) c.79080A>T (p.Pro26360=) c.105123A>T (p.Pro35041=) c.100521A>T (p.Pro33507=) c.100518A>T (p.Pro33506=) c.97560A>T (p.Pro32520=) c.79176A>T (p.Pro26392=) c.100671A>T (p.Pro33557=) c.100668A>T (p.Pro33556=) c.100101A>T (p.Pro33367=) c.97443A>T (p.Pro32481=) c.97362A>T (p.Pro32454=) c.79125A>T (p.Pro26375=) c.68979A>T (p.Pro22993=) | |
2 | g.178530385T>C | CA430235260 | TTN,TTN-AS1 | c.98526A>G (p.Pro32842=) c.79611A>G (p.Pro26537=) c.79410A>G (p.Pro26470=) c.79035A>G (p.Pro26345=) c.106230A>G (p.Pro35410=) c.101307A>G (p.Pro33769=) n.446+6749T>C n.220-5347T>C c.105327A>G (p.Pro35109=) c.79221A>G (p.Pro26407=) c.79080A>G (p.Pro26360=) c.105123A>G (p.Pro35041=) c.100521A>G (p.Pro33507=) c.100518A>G (p.Pro33506=) c.97560A>G (p.Pro32520=) c.79176A>G (p.Pro26392=) c.100671A>G (p.Pro33557=) c.100668A>G (p.Pro33556=) c.100101A>G (p.Pro33367=) c.97443A>G (p.Pro32481=) c.97362A>G (p.Pro32454=) c.79125A>G (p.Pro26375=) c.68979A>G (p.Pro22993=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530385T>G | CA430235261 | TTN,TTN-AS1 | c.98526A>C (p.Pro32842=) c.79611A>C (p.Pro26537=) c.79410A>C (p.Pro26470=) c.79035A>C (p.Pro26345=) c.106230A>C (p.Pro35410=) c.101307A>C (p.Pro33769=) n.446+6749T>G n.220-5347T>G c.105327A>C (p.Pro35109=) c.79221A>C (p.Pro26407=) c.79080A>C (p.Pro26360=) c.105123A>C (p.Pro35041=) c.100521A>C (p.Pro33507=) c.100518A>C (p.Pro33506=) c.97560A>C (p.Pro32520=) c.79176A>C (p.Pro26392=) c.100671A>C (p.Pro33557=) c.100668A>C (p.Pro33556=) c.100101A>C (p.Pro33367=) c.97443A>C (p.Pro32481=) c.97362A>C (p.Pro32454=) c.79125A>C (p.Pro26375=) c.68979A>C (p.Pro22993=) | ClinVar |
2 | g.178530385T= | CA1310514573 | TTN,TTN-AS1 | c.98526A= (p.Pro32842=) c.79611A= (p.Pro26537=) c.79410A= (p.Pro26470=) c.79035A= (p.Pro26345=) c.106230A= (p.Pro35410=) c.101307A= (p.Pro33769=) n.446+6749T= n.220-5347T= c.105327A= (p.Pro35109=) c.79221A= (p.Pro26407=) c.79080A= (p.Pro26360=) c.105123A= (p.Pro35041=) c.100521A= (p.Pro33507=) c.100518A= (p.Pro33506=) c.97560A= (p.Pro32520=) c.79176A= (p.Pro26392=) c.100671A= (p.Pro33557=) c.100668A= (p.Pro33556=) c.100101A= (p.Pro33367=) c.97443A= (p.Pro32481=) c.97362A= (p.Pro32454=) c.79125A= (p.Pro26375=) c.68979A= (p.Pro22993=) | |
2 | g.178530386G>A | CA349406513 | TTN,TTN-AS1 | c.98525C>T (p.Pro32842Leu) c.79610C>T (p.Pro26537Leu) c.79409C>T (p.Pro26470Leu) c.79034C>T (p.Pro26345Leu) c.106229C>T (p.Pro35410Leu) c.101306C>T (p.Pro33769Leu) n.446+6750G>A n.220-5346G>A c.105326C>T (p.Pro35109Leu) c.79220C>T (p.Pro26407Leu) c.79079C>T (p.Pro26360Leu) c.105122C>T (p.Pro35041Leu) c.100520C>T (p.Pro33507Leu) c.100517C>T (p.Pro33506Leu) c.97559C>T (p.Pro32520Leu) c.79175C>T (p.Pro26392Leu) c.100670C>T (p.Pro33557Leu) c.100667C>T (p.Pro33556Leu) c.100100C>T (p.Pro33367Leu) c.97442C>T (p.Pro32481Leu) c.97361C>T (p.Pro32454Leu) c.79124C>T (p.Pro26375Leu) c.68978C>T (p.Pro22993Leu) | |
2 | g.178530386G>C | CA349406515 | TTN,TTN-AS1 | c.98525C>G (p.Pro32842Arg) c.79610C>G (p.Pro26537Arg) c.79409C>G (p.Pro26470Arg) c.79034C>G (p.Pro26345Arg) c.106229C>G (p.Pro35410Arg) c.101306C>G (p.Pro33769Arg) n.446+6750G>C n.220-5346G>C c.105326C>G (p.Pro35109Arg) c.79220C>G (p.Pro26407Arg) c.79079C>G (p.Pro26360Arg) c.105122C>G (p.Pro35041Arg) c.100520C>G (p.Pro33507Arg) c.100517C>G (p.Pro33506Arg) c.97559C>G (p.Pro32520Arg) c.79175C>G (p.Pro26392Arg) c.100670C>G (p.Pro33557Arg) c.100667C>G (p.Pro33556Arg) c.100100C>G (p.Pro33367Arg) c.97442C>G (p.Pro32481Arg) c.97361C>G (p.Pro32454Arg) c.79124C>G (p.Pro26375Arg) c.68978C>G (p.Pro22993Arg) | ClinVar dbSNP |
2 | g.178530386G= | CA1310514575 | TTN,TTN-AS1 | c.98525C= (p.Pro32842=) c.79610C= (p.Pro26537=) c.79409C= (p.Pro26470=) c.79034C= (p.Pro26345=) c.106229C= (p.Pro35410=) c.101306C= (p.Pro33769=) n.446+6750G= n.220-5346G= c.105326C= (p.Pro35109=) c.79220C= (p.Pro26407=) c.79079C= (p.Pro26360=) c.105122C= (p.Pro35041=) c.100520C= (p.Pro33507=) c.100517C= (p.Pro33506=) c.97559C= (p.Pro32520=) c.79175C= (p.Pro26392=) c.100670C= (p.Pro33557=) c.100667C= (p.Pro33556=) c.100100C= (p.Pro33367=) c.97442C= (p.Pro32481=) c.97361C= (p.Pro32454=) c.79124C= (p.Pro26375=) c.68978C= (p.Pro22993=) | |
2 | g.178530386G>T | CA349406517 | TTN,TTN-AS1 | c.98525C>A (p.Pro32842Gln) c.79610C>A (p.Pro26537Gln) c.79409C>A (p.Pro26470Gln) c.79034C>A (p.Pro26345Gln) c.106229C>A (p.Pro35410Gln) c.101306C>A (p.Pro33769Gln) n.446+6750G>T n.220-5346G>T c.105326C>A (p.Pro35109Gln) c.79220C>A (p.Pro26407Gln) c.79079C>A (p.Pro26360Gln) c.105122C>A (p.Pro35041Gln) c.100520C>A (p.Pro33507Gln) c.100517C>A (p.Pro33506Gln) c.97559C>A (p.Pro32520Gln) c.79175C>A (p.Pro26392Gln) c.100670C>A (p.Pro33557Gln) c.100667C>A (p.Pro33556Gln) c.100100C>A (p.Pro33367Gln) c.97442C>A (p.Pro32481Gln) c.97361C>A (p.Pro32454Gln) c.79124C>A (p.Pro26375Gln) c.68978C>A (p.Pro22993Gln) | |
2 | g.178530387G>A | CA349406519 | TTN,TTN-AS1 | c.98524C>T (p.Pro32842Ser) c.79609C>T (p.Pro26537Ser) c.79408C>T (p.Pro26470Ser) c.79033C>T (p.Pro26345Ser) c.106228C>T (p.Pro35410Ser) c.101305C>T (p.Pro33769Ser) n.446+6751G>A n.220-5345G>A c.105325C>T (p.Pro35109Ser) c.79219C>T (p.Pro26407Ser) c.79078C>T (p.Pro26360Ser) c.105121C>T (p.Pro35041Ser) c.100519C>T (p.Pro33507Ser) c.100516C>T (p.Pro33506Ser) c.97558C>T (p.Pro32520Ser) c.79174C>T (p.Pro26392Ser) c.100669C>T (p.Pro33557Ser) c.100666C>T (p.Pro33556Ser) c.100099C>T (p.Pro33367Ser) c.97441C>T (p.Pro32481Ser) c.97360C>T (p.Pro32454Ser) c.79123C>T (p.Pro26375Ser) c.68977C>T (p.Pro22993Ser) | gnomAD v4 |
2 | g.178530387G>C | CA349406520 | TTN,TTN-AS1 | c.98524C>G (p.Pro32842Ala) c.79609C>G (p.Pro26537Ala) c.79408C>G (p.Pro26470Ala) c.79033C>G (p.Pro26345Ala) c.106228C>G (p.Pro35410Ala) c.101305C>G (p.Pro33769Ala) n.446+6751G>C n.220-5345G>C c.105325C>G (p.Pro35109Ala) c.79219C>G (p.Pro26407Ala) c.79078C>G (p.Pro26360Ala) c.105121C>G (p.Pro35041Ala) c.100519C>G (p.Pro33507Ala) c.100516C>G (p.Pro33506Ala) c.97558C>G (p.Pro32520Ala) c.79174C>G (p.Pro26392Ala) c.100669C>G (p.Pro33557Ala) c.100666C>G (p.Pro33556Ala) c.100099C>G (p.Pro33367Ala) c.97441C>G (p.Pro32481Ala) c.97360C>G (p.Pro32454Ala) c.79123C>G (p.Pro26375Ala) c.68977C>G (p.Pro22993Ala) | |
2 | g.178530387G>T | CA349406522 | TTN,TTN-AS1 | c.98524C>A (p.Pro32842Thr) c.79609C>A (p.Pro26537Thr) c.79408C>A (p.Pro26470Thr) c.79033C>A (p.Pro26345Thr) c.106228C>A (p.Pro35410Thr) c.101305C>A (p.Pro33769Thr) n.446+6751G>T n.220-5345G>T c.105325C>A (p.Pro35109Thr) c.79219C>A (p.Pro26407Thr) c.79078C>A (p.Pro26360Thr) c.105121C>A (p.Pro35041Thr) c.100519C>A (p.Pro33507Thr) c.100516C>A (p.Pro33506Thr) c.97558C>A (p.Pro32520Thr) c.79174C>A (p.Pro26392Thr) c.100669C>A (p.Pro33557Thr) c.100666C>A (p.Pro33556Thr) c.100099C>A (p.Pro33367Thr) c.97441C>A (p.Pro32481Thr) c.97360C>A (p.Pro32454Thr) c.79123C>A (p.Pro26375Thr) c.68977C>A (p.Pro22993Thr) | |
2 | g.178530388T>A | CA349406524 | TTN,TTN-AS1 | c.98523A>T (p.Glu32841Asp) c.79608A>T (p.Glu26536Asp) c.79407A>T (p.Glu26469Asp) c.79032A>T (p.Glu26344Asp) c.106227A>T (p.Glu35409Asp) c.101304A>T (p.Glu33768Asp) n.446+6752T>A n.220-5344T>A c.105324A>T (p.Glu35108Asp) c.79218A>T (p.Glu26406Asp) c.79077A>T (p.Glu26359Asp) c.105120A>T (p.Glu35040Asp) c.100518A>T (p.Glu33506Asp) c.100515A>T (p.Glu33505Asp) c.97557A>T (p.Glu32519Asp) c.79173A>T (p.Glu26391Asp) c.100668A>T (p.Glu33556Asp) c.100665A>T (p.Glu33555Asp) c.100098A>T (p.Glu33366Asp) c.97440A>T (p.Glu32480Asp) c.97359A>T (p.Glu32453Asp) c.79122A>T (p.Glu26374Asp) c.68976A>T (p.Glu22992Asp) | |
2 | g.178530388T>C | CA430235263 | TTN,TTN-AS1 | c.98523A>G (p.Glu32841=) c.79608A>G (p.Glu26536=) c.79407A>G (p.Glu26469=) c.79032A>G (p.Glu26344=) c.106227A>G (p.Glu35409=) c.101304A>G (p.Glu33768=) n.446+6752T>C n.220-5344T>C c.105324A>G (p.Glu35108=) c.79218A>G (p.Glu26406=) c.79077A>G (p.Glu26359=) c.105120A>G (p.Glu35040=) c.100518A>G (p.Glu33506=) c.100515A>G (p.Glu33505=) c.97557A>G (p.Glu32519=) c.79173A>G (p.Glu26391=) c.100668A>G (p.Glu33556=) c.100665A>G (p.Glu33555=) c.100098A>G (p.Glu33366=) c.97440A>G (p.Glu32480=) c.97359A>G (p.Glu32453=) c.79122A>G (p.Glu26374=) c.68976A>G (p.Glu22992=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530388T>G | CA349406526 | TTN,TTN-AS1 | c.98523A>C (p.Glu32841Asp) c.79608A>C (p.Glu26536Asp) c.79407A>C (p.Glu26469Asp) c.79032A>C (p.Glu26344Asp) c.106227A>C (p.Glu35409Asp) c.101304A>C (p.Glu33768Asp) n.446+6752T>G n.220-5344T>G c.105324A>C (p.Glu35108Asp) c.79218A>C (p.Glu26406Asp) c.79077A>C (p.Glu26359Asp) c.105120A>C (p.Glu35040Asp) c.100518A>C (p.Glu33506Asp) c.100515A>C (p.Glu33505Asp) c.97557A>C (p.Glu32519Asp) c.79173A>C (p.Glu26391Asp) c.100668A>C (p.Glu33556Asp) c.100665A>C (p.Glu33555Asp) c.100098A>C (p.Glu33366Asp) c.97440A>C (p.Glu32480Asp) c.97359A>C (p.Glu32453Asp) c.79122A>C (p.Glu26374Asp) c.68976A>C (p.Glu22992Asp) | |
2 | g.178530389T>A | CA349406533 | TTN,TTN-AS1 | c.98522A>T (p.Glu32841Val) c.79607A>T (p.Glu26536Val) c.79406A>T (p.Glu26469Val) c.79031A>T (p.Glu26344Val) c.106226A>T (p.Glu35409Val) c.101303A>T (p.Glu33768Val) n.446+6753T>A n.220-5343T>A c.105323A>T (p.Glu35108Val) c.79217A>T (p.Glu26406Val) c.79076A>T (p.Glu26359Val) c.105119A>T (p.Glu35040Val) c.100517A>T (p.Glu33506Val) c.100514A>T (p.Glu33505Val) c.97556A>T (p.Glu32519Val) c.79172A>T (p.Glu26391Val) c.100667A>T (p.Glu33556Val) c.100664A>T (p.Glu33555Val) c.100097A>T (p.Glu33366Val) c.97439A>T (p.Glu32480Val) c.97358A>T (p.Glu32453Val) c.79121A>T (p.Glu26374Val) c.68975A>T (p.Glu22992Val) | |
2 | g.178530389T>C | CA349406531 | TTN,TTN-AS1 | c.98522A>G (p.Glu32841Gly) c.79607A>G (p.Glu26536Gly) c.79406A>G (p.Glu26469Gly) c.79031A>G (p.Glu26344Gly) c.106226A>G (p.Glu35409Gly) c.101303A>G (p.Glu33768Gly) n.446+6753T>C n.220-5343T>C c.105323A>G (p.Glu35108Gly) c.79217A>G (p.Glu26406Gly) c.79076A>G (p.Glu26359Gly) c.105119A>G (p.Glu35040Gly) c.100517A>G (p.Glu33506Gly) c.100514A>G (p.Glu33505Gly) c.97556A>G (p.Glu32519Gly) c.79172A>G (p.Glu26391Gly) c.100667A>G (p.Glu33556Gly) c.100664A>G (p.Glu33555Gly) c.100097A>G (p.Glu33366Gly) c.97439A>G (p.Glu32480Gly) c.97358A>G (p.Glu32453Gly) c.79121A>G (p.Glu26374Gly) c.68975A>G (p.Glu22992Gly) | |
2 | g.178530389T>G | CA349406529 | TTN,TTN-AS1 | c.98522A>C (p.Glu32841Ala) c.79607A>C (p.Glu26536Ala) c.79406A>C (p.Glu26469Ala) c.79031A>C (p.Glu26344Ala) c.106226A>C (p.Glu35409Ala) c.101303A>C (p.Glu33768Ala) n.446+6753T>G n.220-5343T>G c.105323A>C (p.Glu35108Ala) c.79217A>C (p.Glu26406Ala) c.79076A>C (p.Glu26359Ala) c.105119A>C (p.Glu35040Ala) c.100517A>C (p.Glu33506Ala) c.100514A>C (p.Glu33505Ala) c.97556A>C (p.Glu32519Ala) c.79172A>C (p.Glu26391Ala) c.100667A>C (p.Glu33556Ala) c.100664A>C (p.Glu33555Ala) c.100097A>C (p.Glu33366Ala) c.97439A>C (p.Glu32480Ala) c.97358A>C (p.Glu32453Ala) c.79121A>C (p.Glu26374Ala) c.68975A>C (p.Glu22992Ala) | |
2 | g.178530390C>A | CA349406535 | TTN,TTN-AS1 | c.98521G>T (p.Glu32841Ter) c.79606G>T (p.Glu26536Ter) c.79405G>T (p.Glu26469Ter) c.79030G>T (p.Glu26344Ter) c.106225G>T (p.Glu35409Ter) c.101302G>T (p.Glu33768Ter) n.446+6754C>A n.220-5342C>A c.105322G>T (p.Glu35108Ter) c.79216G>T (p.Glu26406Ter) c.79075G>T (p.Glu26359Ter) c.105118G>T (p.Glu35040Ter) c.100516G>T (p.Glu33506Ter) c.100513G>T (p.Glu33505Ter) c.97555G>T (p.Glu32519Ter) c.79171G>T (p.Glu26391Ter) c.100666G>T (p.Glu33556Ter) c.100663G>T (p.Glu33555Ter) c.100096G>T (p.Glu33366Ter) c.97438G>T (p.Glu32480Ter) c.97357G>T (p.Glu32453Ter) c.79120G>T (p.Glu26374Ter) c.68974G>T (p.Glu22992Ter) | |
2 | g.178530390C= | CA1310514577 | TTN,TTN-AS1 | c.98521G= (p.Glu32841=) c.79606G= (p.Glu26536=) c.79405G= (p.Glu26469=) c.79030G= (p.Glu26344=) c.106225G= (p.Glu35409=) c.101302G= (p.Glu33768=) n.446+6754C= n.220-5342C= c.105322G= (p.Glu35108=) c.79216G= (p.Glu26406=) c.79075G= (p.Glu26359=) c.105118G= (p.Glu35040=) c.100516G= (p.Glu33506=) c.100513G= (p.Glu33505=) c.97555G= (p.Glu32519=) c.79171G= (p.Glu26391=) c.100666G= (p.Glu33556=) c.100663G= (p.Glu33555=) c.100096G= (p.Glu33366=) c.97438G= (p.Glu32480=) c.97357G= (p.Glu32453=) c.79120G= (p.Glu26374=) c.68974G= (p.Glu22992=) | |
2 | g.178530390C>G | CA349406540 | TTN,TTN-AS1 | c.98521G>C (p.Glu32841Gln) c.79606G>C (p.Glu26536Gln) c.79405G>C (p.Glu26469Gln) c.79030G>C (p.Glu26344Gln) c.106225G>C (p.Glu35409Gln) c.101302G>C (p.Glu33768Gln) n.446+6754C>G n.220-5342C>G c.105322G>C (p.Glu35108Gln) c.79216G>C (p.Glu26406Gln) c.79075G>C (p.Glu26359Gln) c.105118G>C (p.Glu35040Gln) c.100516G>C (p.Glu33506Gln) c.100513G>C (p.Glu33505Gln) c.97555G>C (p.Glu32519Gln) c.79171G>C (p.Glu26391Gln) c.100666G>C (p.Glu33556Gln) c.100663G>C (p.Glu33555Gln) c.100096G>C (p.Glu33366Gln) c.97438G>C (p.Glu32480Gln) c.97357G>C (p.Glu32453Gln) c.79120G>C (p.Glu26374Gln) c.68974G>C (p.Glu22992Gln) | |
2 | g.178530390C>T | CA349406537 | TTN,TTN-AS1 | c.98521G>A (p.Glu32841Lys) c.79606G>A (p.Glu26536Lys) c.79405G>A (p.Glu26469Lys) c.79030G>A (p.Glu26344Lys) c.106225G>A (p.Glu35409Lys) c.101302G>A (p.Glu33768Lys) n.446+6754C>T n.220-5342C>T c.105322G>A (p.Glu35108Lys) c.79216G>A (p.Glu26406Lys) c.79075G>A (p.Glu26359Lys) c.105118G>A (p.Glu35040Lys) c.100516G>A (p.Glu33506Lys) c.100513G>A (p.Glu33505Lys) c.97555G>A (p.Glu32519Lys) c.79171G>A (p.Glu26391Lys) c.100666G>A (p.Glu33556Lys) c.100663G>A (p.Glu33555Lys) c.100096G>A (p.Glu33366Lys) c.97438G>A (p.Glu32480Lys) c.97357G>A (p.Glu32453Lys) c.79120G>A (p.Glu26374Lys) c.68974G>A (p.Glu22992Lys) | dbSNP |
2 | g.178530391A>C | CA430235267 | TTN,TTN-AS1 | c.98520T>G (p.Thr32840=) c.79605T>G (p.Thr26535=) c.79404T>G (p.Thr26468=) c.79029T>G (p.Thr26343=) c.106224T>G (p.Thr35408=) c.101301T>G (p.Thr33767=) n.446+6755A>C n.220-5341A>C c.105321T>G (p.Thr35107=) c.79215T>G (p.Thr26405=) c.79074T>G (p.Thr26358=) c.105117T>G (p.Thr35039=) c.100515T>G (p.Thr33505=) c.100512T>G (p.Thr33504=) c.97554T>G (p.Thr32518=) c.79170T>G (p.Thr26390=) c.100665T>G (p.Thr33555=) c.100662T>G (p.Thr33554=) c.100095T>G (p.Thr33365=) c.97437T>G (p.Thr32479=) c.97356T>G (p.Thr32452=) c.79119T>G (p.Thr26373=) c.68973T>G (p.Thr22991=) | |
2 | g.178530391A>G | CA430235271 | TTN,TTN-AS1 | c.98520T>C (p.Thr32840=) c.79605T>C (p.Thr26535=) c.79404T>C (p.Thr26468=) c.79029T>C (p.Thr26343=) c.106224T>C (p.Thr35408=) c.101301T>C (p.Thr33767=) n.446+6755A>G n.220-5341A>G c.105321T>C (p.Thr35107=) c.79215T>C (p.Thr26405=) c.79074T>C (p.Thr26358=) c.105117T>C (p.Thr35039=) c.100515T>C (p.Thr33505=) c.100512T>C (p.Thr33504=) c.97554T>C (p.Thr32518=) c.79170T>C (p.Thr26390=) c.100665T>C (p.Thr33555=) c.100662T>C (p.Thr33554=) c.100095T>C (p.Thr33365=) c.97437T>C (p.Thr32479=) c.97356T>C (p.Thr32452=) c.79119T>C (p.Thr26373=) c.68973T>C (p.Thr22991=) | |
2 | g.178530391A>T | CA430235269 | TTN,TTN-AS1 | c.98520T>A (p.Thr32840=) c.79605T>A (p.Thr26535=) c.79404T>A (p.Thr26468=) c.79029T>A (p.Thr26343=) c.106224T>A (p.Thr35408=) c.101301T>A (p.Thr33767=) n.446+6755A>T n.220-5341A>T c.105321T>A (p.Thr35107=) c.79215T>A (p.Thr26405=) c.79074T>A (p.Thr26358=) c.105117T>A (p.Thr35039=) c.100515T>A (p.Thr33505=) c.100512T>A (p.Thr33504=) c.97554T>A (p.Thr32518=) c.79170T>A (p.Thr26390=) c.100665T>A (p.Thr33555=) c.100662T>A (p.Thr33554=) c.100095T>A (p.Thr33365=) c.97437T>A (p.Thr32479=) c.97356T>A (p.Thr32452=) c.79119T>A (p.Thr26373=) c.68973T>A (p.Thr22991=) | |
2 | g.178530392G>A | CA349406542 | TTN,TTN-AS1 | c.98519C>T (p.Thr32840Ile) c.79604C>T (p.Thr26535Ile) c.79403C>T (p.Thr26468Ile) c.79028C>T (p.Thr26343Ile) c.106223C>T (p.Thr35408Ile) c.101300C>T (p.Thr33767Ile) n.446+6756G>A n.220-5340G>A c.105320C>T (p.Thr35107Ile) c.79214C>T (p.Thr26405Ile) c.79073C>T (p.Thr26358Ile) c.105116C>T (p.Thr35039Ile) c.100514C>T (p.Thr33505Ile) c.100511C>T (p.Thr33504Ile) c.97553C>T (p.Thr32518Ile) c.79169C>T (p.Thr26390Ile) c.100664C>T (p.Thr33555Ile) c.100661C>T (p.Thr33554Ile) c.100094C>T (p.Thr33365Ile) c.97436C>T (p.Thr32479Ile) c.97355C>T (p.Thr32452Ile) c.79118C>T (p.Thr26373Ile) c.68972C>T (p.Thr22991Ile) | gnomAD v4 |
2 | g.178530392G>C | CA349406545 | TTN,TTN-AS1 | c.98519C>G (p.Thr32840Ser) c.79604C>G (p.Thr26535Ser) c.79403C>G (p.Thr26468Ser) c.79028C>G (p.Thr26343Ser) c.106223C>G (p.Thr35408Ser) c.101300C>G (p.Thr33767Ser) n.446+6756G>C n.220-5340G>C c.105320C>G (p.Thr35107Ser) c.79214C>G (p.Thr26405Ser) c.79073C>G (p.Thr26358Ser) c.105116C>G (p.Thr35039Ser) c.100514C>G (p.Thr33505Ser) c.100511C>G (p.Thr33504Ser) c.97553C>G (p.Thr32518Ser) c.79169C>G (p.Thr26390Ser) c.100664C>G (p.Thr33555Ser) c.100661C>G (p.Thr33554Ser) c.100094C>G (p.Thr33365Ser) c.97436C>G (p.Thr32479Ser) c.97355C>G (p.Thr32452Ser) c.79118C>G (p.Thr26373Ser) c.68972C>G (p.Thr22991Ser) | |
2 | g.178530392G= | CA1310514580 | TTN,TTN-AS1 | c.98519C= (p.Thr32840=) c.79604C= (p.Thr26535=) c.79403C= (p.Thr26468=) c.79028C= (p.Thr26343=) c.106223C= (p.Thr35408=) c.101300C= (p.Thr33767=) n.446+6756G= n.220-5340G= c.105320C= (p.Thr35107=) c.79214C= (p.Thr26405=) c.79073C= (p.Thr26358=) c.105116C= (p.Thr35039=) c.100514C= (p.Thr33505=) c.100511C= (p.Thr33504=) c.97553C= (p.Thr32518=) c.79169C= (p.Thr26390=) c.100664C= (p.Thr33555=) c.100661C= (p.Thr33554=) c.100094C= (p.Thr33365=) c.97436C= (p.Thr32479=) c.97355C= (p.Thr32452=) c.79118C= (p.Thr26373=) c.68972C= (p.Thr22991=) | |
2 | g.178530392G>T | CA349406544 | TTN,TTN-AS1 | c.98519C>A (p.Thr32840Asn) c.79604C>A (p.Thr26535Asn) c.79403C>A (p.Thr26468Asn) c.79028C>A (p.Thr26343Asn) c.106223C>A (p.Thr35408Asn) c.101300C>A (p.Thr33767Asn) n.446+6756G>T n.220-5340G>T c.105320C>A (p.Thr35107Asn) c.79214C>A (p.Thr26405Asn) c.79073C>A (p.Thr26358Asn) c.105116C>A (p.Thr35039Asn) c.100514C>A (p.Thr33505Asn) c.100511C>A (p.Thr33504Asn) c.97553C>A (p.Thr32518Asn) c.79169C>A (p.Thr26390Asn) c.100664C>A (p.Thr33555Asn) c.100661C>A (p.Thr33554Asn) c.100094C>A (p.Thr33365Asn) c.97436C>A (p.Thr32479Asn) c.97355C>A (p.Thr32452Asn) c.79118C>A (p.Thr26373Asn) c.68972C>A (p.Thr22991Asn) | ClinVar dbSNP |
2 | g.178530393T>A | CA349406546 | TTN,TTN-AS1 | c.98518A>T (p.Thr32840Ser) c.79603A>T (p.Thr26535Ser) c.79402A>T (p.Thr26468Ser) c.79027A>T (p.Thr26343Ser) c.106222A>T (p.Thr35408Ser) c.101299A>T (p.Thr33767Ser) n.446+6757T>A n.220-5339T>A c.105319A>T (p.Thr35107Ser) c.79213A>T (p.Thr26405Ser) c.79072A>T (p.Thr26358Ser) c.105115A>T (p.Thr35039Ser) c.100513A>T (p.Thr33505Ser) c.100510A>T (p.Thr33504Ser) c.97552A>T (p.Thr32518Ser) c.79168A>T (p.Thr26390Ser) c.100663A>T (p.Thr33555Ser) c.100660A>T (p.Thr33554Ser) c.100093A>T (p.Thr33365Ser) c.97435A>T (p.Thr32479Ser) c.97354A>T (p.Thr32452Ser) c.79117A>T (p.Thr26373Ser) c.68971A>T (p.Thr22991Ser) | |
2 | g.178530393T>C | CA349406547 | TTN,TTN-AS1 | c.98518A>G (p.Thr32840Ala) c.79603A>G (p.Thr26535Ala) c.79402A>G (p.Thr26468Ala) c.79027A>G (p.Thr26343Ala) c.106222A>G (p.Thr35408Ala) c.101299A>G (p.Thr33767Ala) n.446+6757T>C n.220-5339T>C c.105319A>G (p.Thr35107Ala) c.79213A>G (p.Thr26405Ala) c.79072A>G (p.Thr26358Ala) c.105115A>G (p.Thr35039Ala) c.100513A>G (p.Thr33505Ala) c.100510A>G (p.Thr33504Ala) c.97552A>G (p.Thr32518Ala) c.79168A>G (p.Thr26390Ala) c.100663A>G (p.Thr33555Ala) c.100660A>G (p.Thr33554Ala) c.100093A>G (p.Thr33365Ala) c.97435A>G (p.Thr32479Ala) c.97354A>G (p.Thr32452Ala) c.79117A>G (p.Thr26373Ala) c.68971A>G (p.Thr22991Ala) | gnomAD v4 |
2 | g.178530393T>G | CA349406550 | TTN,TTN-AS1 | c.98518A>C (p.Thr32840Pro) c.79603A>C (p.Thr26535Pro) c.79402A>C (p.Thr26468Pro) c.79027A>C (p.Thr26343Pro) c.106222A>C (p.Thr35408Pro) c.101299A>C (p.Thr33767Pro) n.446+6757T>G n.220-5339T>G c.105319A>C (p.Thr35107Pro) c.79213A>C (p.Thr26405Pro) c.79072A>C (p.Thr26358Pro) c.105115A>C (p.Thr35039Pro) c.100513A>C (p.Thr33505Pro) c.100510A>C (p.Thr33504Pro) c.97552A>C (p.Thr32518Pro) c.79168A>C (p.Thr26390Pro) c.100663A>C (p.Thr33555Pro) c.100660A>C (p.Thr33554Pro) c.100093A>C (p.Thr33365Pro) c.97435A>C (p.Thr32479Pro) c.97354A>C (p.Thr32452Pro) c.79117A>C (p.Thr26373Pro) c.68971A>C (p.Thr22991Pro) | |
2 | g.178530397dup | CA1310514582 | TTN,TTN-AS1 | c.98518dup (p.Thr32840AsnfsTer2) c.79603dup (p.Thr26535AsnfsTer2) c.79402dup (p.Thr26468AsnfsTer2) c.79027dup (p.Thr26343AsnfsTer2) c.106222dup (p.Thr35408AsnfsTer2) c.101299dup (p.Thr33767AsnfsTer2) n.446+6761dup n.220-5335dup c.105319dup (p.Thr35107AsnfsTer2) c.79213dup (p.Thr26405AsnfsTer2) c.79072dup (p.Thr26358AsnfsTer2) c.105115dup (p.Thr35039AsnfsTer2) c.100513dup (p.Thr33505AsnfsTer2) c.100510dup (p.Thr33504AsnfsTer2) c.97552dup (p.Thr32518AsnfsTer2) c.79168dup (p.Thr26390AsnfsTer2) c.100663dup (p.Thr33555AsnfsTer2) c.100660dup (p.Thr33554AsnfsTer2) c.100093dup (p.Thr33365AsnfsTer2) c.97435dup (p.Thr32479AsnfsTer2) c.97354dup (p.Thr32452AsnfsTer2) c.79117dup (p.Thr26373AsnfsTer2) c.68971dup (p.Thr22991AsnfsTer2) | dbSNP |
2 | g.178530397del | CA2662125713 | TTN,TTN-AS1 | c.98518del (p.Thr32840LeufsTer14) c.79603del (p.Thr26535LeufsTer14) c.79402del (p.Thr26468LeufsTer14) c.79027del (p.Thr26343LeufsTer14) c.106222del (p.Thr35408LeufsTer14) c.101299del (p.Thr33767LeufsTer14) n.446+6761del n.220-5335del c.105319del (p.Thr35107LeufsTer14) c.79213del (p.Thr26405LeufsTer14) c.79072del (p.Thr26358LeufsTer14) c.105115del (p.Thr35039LeufsTer14) c.100513del (p.Thr33505LeufsTer14) c.100510del (p.Thr33504LeufsTer14) c.97552del (p.Thr32518LeufsTer14) c.79168del (p.Thr26390LeufsTer14) c.100663del (p.Thr33555LeufsTer14) c.100660del (p.Thr33554LeufsTer14) c.100093del (p.Thr33365LeufsTer14) c.97435del (p.Thr32479LeufsTer14) c.97354del (p.Thr32452LeufsTer14) c.79117del (p.Thr26373LeufsTer14) c.68971del (p.Thr22991LeufsTer14) | gnomAD v4 |
2 | g.178530394T>A | CA349406552 | TTN,TTN-AS1 | c.98517A>T (p.Lys32839Asn) c.79602A>T (p.Lys26534Asn) c.79401A>T (p.Lys26467Asn) c.79026A>T (p.Lys26342Asn) c.106221A>T (p.Lys35407Asn) c.101298A>T (p.Lys33766Asn) n.446+6758T>A n.220-5338T>A c.105318A>T (p.Lys35106Asn) c.79212A>T (p.Lys26404Asn) c.79071A>T (p.Lys26357Asn) c.105114A>T (p.Lys35038Asn) c.100512A>T (p.Lys33504Asn) c.100509A>T (p.Lys33503Asn) c.97551A>T (p.Lys32517Asn) c.79167A>T (p.Lys26389Asn) c.100662A>T (p.Lys33554Asn) c.100659A>T (p.Lys33553Asn) c.100092A>T (p.Lys33364Asn) c.97434A>T (p.Lys32478Asn) c.97353A>T (p.Lys32451Asn) c.79116A>T (p.Lys26372Asn) c.68970A>T (p.Lys22990Asn) | |
2 | g.178530394T>C | CA430235273 | TTN,TTN-AS1 | c.98517A>G (p.Lys32839=) c.79602A>G (p.Lys26534=) c.79401A>G (p.Lys26467=) c.79026A>G (p.Lys26342=) c.106221A>G (p.Lys35407=) c.101298A>G (p.Lys33766=) n.446+6758T>C n.220-5338T>C c.105318A>G (p.Lys35106=) c.79212A>G (p.Lys26404=) c.79071A>G (p.Lys26357=) c.105114A>G (p.Lys35038=) c.100512A>G (p.Lys33504=) c.100509A>G (p.Lys33503=) c.97551A>G (p.Lys32517=) c.79167A>G (p.Lys26389=) c.100662A>G (p.Lys33554=) c.100659A>G (p.Lys33553=) c.100092A>G (p.Lys33364=) c.97434A>G (p.Lys32478=) c.97353A>G (p.Lys32451=) c.79116A>G (p.Lys26372=) c.68970A>G (p.Lys22990=) | |
2 | g.178530394T>G | CA349406554 | TTN,TTN-AS1 | c.98517A>C (p.Lys32839Asn) c.79602A>C (p.Lys26534Asn) c.79401A>C (p.Lys26467Asn) c.79026A>C (p.Lys26342Asn) c.106221A>C (p.Lys35407Asn) c.101298A>C (p.Lys33766Asn) n.446+6758T>G n.220-5338T>G c.105318A>C (p.Lys35106Asn) c.79212A>C (p.Lys26404Asn) c.79071A>C (p.Lys26357Asn) c.105114A>C (p.Lys35038Asn) c.100512A>C (p.Lys33504Asn) c.100509A>C (p.Lys33503Asn) c.97551A>C (p.Lys32517Asn) c.79167A>C (p.Lys26389Asn) c.100662A>C (p.Lys33554Asn) c.100659A>C (p.Lys33553Asn) c.100092A>C (p.Lys33364Asn) c.97434A>C (p.Lys32478Asn) c.97353A>C (p.Lys32451Asn) c.79116A>C (p.Lys26372Asn) c.68970A>C (p.Lys22990Asn) | |
2 | g.178530395T>A | CA349406556 | TTN,TTN-AS1 | c.98516A>T (p.Lys32839Ile) c.79601A>T (p.Lys26534Ile) c.79400A>T (p.Lys26467Ile) c.79025A>T (p.Lys26342Ile) c.106220A>T (p.Lys35407Ile) c.101297A>T (p.Lys33766Ile) n.446+6759T>A n.220-5337T>A c.105317A>T (p.Lys35106Ile) c.79211A>T (p.Lys26404Ile) c.79070A>T (p.Lys26357Ile) c.105113A>T (p.Lys35038Ile) c.100511A>T (p.Lys33504Ile) c.100508A>T (p.Lys33503Ile) c.97550A>T (p.Lys32517Ile) c.79166A>T (p.Lys26389Ile) c.100661A>T (p.Lys33554Ile) c.100658A>T (p.Lys33553Ile) c.100091A>T (p.Lys33364Ile) c.97433A>T (p.Lys32478Ile) c.97352A>T (p.Lys32451Ile) c.79115A>T (p.Lys26372Ile) c.68969A>T (p.Lys22990Ile) | |
2 | g.178530395T>C | CA349406558 | TTN,TTN-AS1 | c.98516A>G (p.Lys32839Arg) c.79601A>G (p.Lys26534Arg) c.79400A>G (p.Lys26467Arg) c.79025A>G (p.Lys26342Arg) c.106220A>G (p.Lys35407Arg) c.101297A>G (p.Lys33766Arg) n.446+6759T>C n.220-5337T>C c.105317A>G (p.Lys35106Arg) c.79211A>G (p.Lys26404Arg) c.79070A>G (p.Lys26357Arg) c.105113A>G (p.Lys35038Arg) c.100511A>G (p.Lys33504Arg) c.100508A>G (p.Lys33503Arg) c.97550A>G (p.Lys32517Arg) c.79166A>G (p.Lys26389Arg) c.100661A>G (p.Lys33554Arg) c.100658A>G (p.Lys33553Arg) c.100091A>G (p.Lys33364Arg) c.97433A>G (p.Lys32478Arg) c.97352A>G (p.Lys32451Arg) c.79115A>G (p.Lys26372Arg) c.68969A>G (p.Lys22990Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530395T>G | CA349406560 | TTN,TTN-AS1 | c.98516A>C (p.Lys32839Thr) c.79601A>C (p.Lys26534Thr) c.79400A>C (p.Lys26467Thr) c.79025A>C (p.Lys26342Thr) c.106220A>C (p.Lys35407Thr) c.101297A>C (p.Lys33766Thr) n.446+6759T>G n.220-5337T>G c.105317A>C (p.Lys35106Thr) c.79211A>C (p.Lys26404Thr) c.79070A>C (p.Lys26357Thr) c.105113A>C (p.Lys35038Thr) c.100511A>C (p.Lys33504Thr) c.100508A>C (p.Lys33503Thr) c.97550A>C (p.Lys32517Thr) c.79166A>C (p.Lys26389Thr) c.100661A>C (p.Lys33554Thr) c.100658A>C (p.Lys33553Thr) c.100091A>C (p.Lys33364Thr) c.97433A>C (p.Lys32478Thr) c.97352A>C (p.Lys32451Thr) c.79115A>C (p.Lys26372Thr) c.68969A>C (p.Lys22990Thr) | |
2 | g.178530395T= | CA1310514583 | TTN,TTN-AS1 | c.98516A= (p.Lys32839=) c.79601A= (p.Lys26534=) c.79400A= (p.Lys26467=) c.79025A= (p.Lys26342=) c.106220A= (p.Lys35407=) c.101297A= (p.Lys33766=) n.446+6759T= n.220-5337T= c.105317A= (p.Lys35106=) c.79211A= (p.Lys26404=) c.79070A= (p.Lys26357=) c.105113A= (p.Lys35038=) c.100511A= (p.Lys33504=) c.100508A= (p.Lys33503=) c.97550A= (p.Lys32517=) c.79166A= (p.Lys26389=) c.100661A= (p.Lys33554=) c.100658A= (p.Lys33553=) c.100091A= (p.Lys33364=) c.97433A= (p.Lys32478=) c.97352A= (p.Lys32451=) c.79115A= (p.Lys26372=) c.68969A= (p.Lys22990=) | |
2 | g.178530396T>A | CA349406562 | TTN,TTN-AS1 | c.98515A>T (p.Lys32839Ter) c.79600A>T (p.Lys26534Ter) c.79399A>T (p.Lys26467Ter) c.79024A>T (p.Lys26342Ter) c.106219A>T (p.Lys35407Ter) c.101296A>T (p.Lys33766Ter) n.446+6760T>A n.220-5336T>A c.105316A>T (p.Lys35106Ter) c.79210A>T (p.Lys26404Ter) c.79069A>T (p.Lys26357Ter) c.105112A>T (p.Lys35038Ter) c.100510A>T (p.Lys33504Ter) c.100507A>T (p.Lys33503Ter) c.97549A>T (p.Lys32517Ter) c.79165A>T (p.Lys26389Ter) c.100660A>T (p.Lys33554Ter) c.100657A>T (p.Lys33553Ter) c.100090A>T (p.Lys33364Ter) c.97432A>T (p.Lys32478Ter) c.97351A>T (p.Lys32451Ter) c.79114A>T (p.Lys26372Ter) c.68968A>T (p.Lys22990Ter) | |
2 | g.178530396T>C | CA349406565 | TTN,TTN-AS1 | c.98515A>G (p.Lys32839Glu) c.79600A>G (p.Lys26534Glu) c.79399A>G (p.Lys26467Glu) c.79024A>G (p.Lys26342Glu) c.106219A>G (p.Lys35407Glu) c.101296A>G (p.Lys33766Glu) n.446+6760T>C n.220-5336T>C c.105316A>G (p.Lys35106Glu) c.79210A>G (p.Lys26404Glu) c.79069A>G (p.Lys26357Glu) c.105112A>G (p.Lys35038Glu) c.100510A>G (p.Lys33504Glu) c.100507A>G (p.Lys33503Glu) c.97549A>G (p.Lys32517Glu) c.79165A>G (p.Lys26389Glu) c.100660A>G (p.Lys33554Glu) c.100657A>G (p.Lys33553Glu) c.100090A>G (p.Lys33364Glu) c.97432A>G (p.Lys32478Glu) c.97351A>G (p.Lys32451Glu) c.79114A>G (p.Lys26372Glu) c.68968A>G (p.Lys22990Glu) | ClinVar dbSNP |
2 | g.178530396T>G | CA349406567 | TTN,TTN-AS1 | c.98515A>C (p.Lys32839Gln) c.79600A>C (p.Lys26534Gln) c.79399A>C (p.Lys26467Gln) c.79024A>C (p.Lys26342Gln) c.106219A>C (p.Lys35407Gln) c.101296A>C (p.Lys33766Gln) n.446+6760T>G n.220-5336T>G c.105316A>C (p.Lys35106Gln) c.79210A>C (p.Lys26404Gln) c.79069A>C (p.Lys26357Gln) c.105112A>C (p.Lys35038Gln) c.100510A>C (p.Lys33504Gln) c.100507A>C (p.Lys33503Gln) c.97549A>C (p.Lys32517Gln) c.79165A>C (p.Lys26389Gln) c.100660A>C (p.Lys33554Gln) c.100657A>C (p.Lys33553Gln) c.100090A>C (p.Lys33364Gln) c.97432A>C (p.Lys32478Gln) c.97351A>C (p.Lys32451Gln) c.79114A>C (p.Lys26372Gln) c.68968A>C (p.Lys22990Gln) | |
2 | g.178530396T= | CA1310514585 | TTN,TTN-AS1 | c.98515A= (p.Lys32839=) c.79600A= (p.Lys26534=) c.79399A= (p.Lys26467=) c.79024A= (p.Lys26342=) c.106219A= (p.Lys35407=) c.101296A= (p.Lys33766=) n.446+6760T= n.220-5336T= c.105316A= (p.Lys35106=) c.79210A= (p.Lys26404=) c.79069A= (p.Lys26357=) c.105112A= (p.Lys35038=) c.100510A= (p.Lys33504=) c.100507A= (p.Lys33503=) c.97549A= (p.Lys32517=) c.79165A= (p.Lys26389=) c.100660A= (p.Lys33554=) c.100657A= (p.Lys33553=) c.100090A= (p.Lys33364=) c.97432A= (p.Lys32478=) c.97351A= (p.Lys32451=) c.79114A= (p.Lys26372=) c.68968A= (p.Lys22990=) | |
2 | g.178530397T>A | CA349406570 | TTN,TTN-AS1 | c.98514A>T (p.Arg32838Ser) c.79599A>T (p.Arg26533Ser) c.79398A>T (p.Arg26466Ser) c.79023A>T (p.Arg26341Ser) c.106218A>T (p.Arg35406Ser) c.101295A>T (p.Arg33765Ser) n.446+6761T>A n.220-5335T>A c.105315A>T (p.Arg35105Ser) c.79209A>T (p.Arg26403Ser) c.79068A>T (p.Arg26356Ser) c.105111A>T (p.Arg35037Ser) c.100509A>T (p.Arg33503Ser) c.100506A>T (p.Arg33502Ser) c.97548A>T (p.Arg32516Ser) c.79164A>T (p.Arg26388Ser) c.100659A>T (p.Arg33553Ser) c.100656A>T (p.Arg33552Ser) c.100089A>T (p.Arg33363Ser) c.97431A>T (p.Arg32477Ser) c.97350A>T (p.Arg32450Ser) c.79113A>T (p.Arg26371Ser) c.68967A>T (p.Arg22989Ser) | |
2 | g.178530397T>C | CA430235276 | TTN,TTN-AS1 | c.98514A>G (p.Arg32838=) c.79599A>G (p.Arg26533=) c.79398A>G (p.Arg26466=) c.79023A>G (p.Arg26341=) c.106218A>G (p.Arg35406=) c.101295A>G (p.Arg33765=) n.446+6761T>C n.220-5335T>C c.105315A>G (p.Arg35105=) c.79209A>G (p.Arg26403=) c.79068A>G (p.Arg26356=) c.105111A>G (p.Arg35037=) c.100509A>G (p.Arg33503=) c.100506A>G (p.Arg33502=) c.97548A>G (p.Arg32516=) c.79164A>G (p.Arg26388=) c.100659A>G (p.Arg33553=) c.100656A>G (p.Arg33552=) c.100089A>G (p.Arg33363=) c.97431A>G (p.Arg32477=) c.97350A>G (p.Arg32450=) c.79113A>G (p.Arg26371=) c.68967A>G (p.Arg22989=) | |
2 | g.178530397T>G | CA349406571 | TTN,TTN-AS1 | c.98514A>C (p.Arg32838Ser) c.79599A>C (p.Arg26533Ser) c.79398A>C (p.Arg26466Ser) c.79023A>C (p.Arg26341Ser) c.106218A>C (p.Arg35406Ser) c.101295A>C (p.Arg33765Ser) n.446+6761T>G n.220-5335T>G c.105315A>C (p.Arg35105Ser) c.79209A>C (p.Arg26403Ser) c.79068A>C (p.Arg26356Ser) c.105111A>C (p.Arg35037Ser) c.100509A>C (p.Arg33503Ser) c.100506A>C (p.Arg33502Ser) c.97548A>C (p.Arg32516Ser) c.79164A>C (p.Arg26388Ser) c.100659A>C (p.Arg33553Ser) c.100656A>C (p.Arg33552Ser) c.100089A>C (p.Arg33363Ser) c.97431A>C (p.Arg32477Ser) c.97350A>C (p.Arg32450Ser) c.79113A>C (p.Arg26371Ser) c.68967A>C (p.Arg22989Ser) | |
2 | g.178530398del | CA2753330745 | TTN,TTN-AS1 | c.98513del (p.Arg32838LysfsTer16) c.79598del (p.Arg26533LysfsTer16) c.79397del (p.Arg26466LysfsTer16) c.79022del (p.Arg26341LysfsTer16) c.106217del (p.Arg35406LysfsTer16) c.101294del (p.Arg33765LysfsTer16) n.446+6762del n.220-5334del c.105314del (p.Arg35105LysfsTer16) c.79208del (p.Arg26403LysfsTer16) c.79067del (p.Arg26356LysfsTer16) c.105110del (p.Arg35037LysfsTer16) c.100508del (p.Arg33503LysfsTer16) c.100505del (p.Arg33502LysfsTer16) c.97547del (p.Arg32516LysfsTer16) c.79163del (p.Arg26388LysfsTer16) c.100658del (p.Arg33553LysfsTer16) c.100655del (p.Arg33552LysfsTer16) c.100088del (p.Arg33363LysfsTer16) c.97430del (p.Arg32477LysfsTer16) c.97349del (p.Arg32450LysfsTer16) c.79112del (p.Arg26371LysfsTer16) c.68966del (p.Arg22989LysfsTer16) | |
2 | g.178530398C>A | CA349406578 | TTN,TTN-AS1 | c.98513G>T (p.Arg32838Ile) c.79598G>T (p.Arg26533Ile) c.79397G>T (p.Arg26466Ile) c.79022G>T (p.Arg26341Ile) c.106217G>T (p.Arg35406Ile) c.101294G>T (p.Arg33765Ile) n.446+6762C>A n.220-5334C>A c.105314G>T (p.Arg35105Ile) c.79208G>T (p.Arg26403Ile) c.79067G>T (p.Arg26356Ile) c.105110G>T (p.Arg35037Ile) c.100508G>T (p.Arg33503Ile) c.100505G>T (p.Arg33502Ile) c.97547G>T (p.Arg32516Ile) c.79163G>T (p.Arg26388Ile) c.100658G>T (p.Arg33553Ile) c.100655G>T (p.Arg33552Ile) c.100088G>T (p.Arg33363Ile) c.97430G>T (p.Arg32477Ile) c.97349G>T (p.Arg32450Ile) c.79112G>T (p.Arg26371Ile) c.68966G>T (p.Arg22989Ile) | |
2 | g.178530398C= | CA1310514588 | TTN,TTN-AS1 | c.98513G= (p.Arg32838=) c.79598G= (p.Arg26533=) c.79397G= (p.Arg26466=) c.79022G= (p.Arg26341=) c.106217G= (p.Arg35406=) c.101294G= (p.Arg33765=) n.446+6762C= n.220-5334C= c.105314G= (p.Arg35105=) c.79208G= (p.Arg26403=) c.79067G= (p.Arg26356=) c.105110G= (p.Arg35037=) c.100508G= (p.Arg33503=) c.100505G= (p.Arg33502=) c.97547G= (p.Arg32516=) c.79163G= (p.Arg26388=) c.100658G= (p.Arg33553=) c.100655G= (p.Arg33552=) c.100088G= (p.Arg33363=) c.97430G= (p.Arg32477=) c.97349G= (p.Arg32450=) c.79112G= (p.Arg26371=) c.68966G= (p.Arg22989=) | |
2 | g.178530398C>G | CA1985143 | TTN,TTN-AS1 | c.98513G>C (p.Arg32838Thr) c.79598G>C (p.Arg26533Thr) c.79397G>C (p.Arg26466Thr) c.79022G>C (p.Arg26341Thr) c.106217G>C (p.Arg35406Thr) c.101294G>C (p.Arg33765Thr) n.446+6762C>G n.220-5334C>G c.105314G>C (p.Arg35105Thr) c.79208G>C (p.Arg26403Thr) c.79067G>C (p.Arg26356Thr) c.105110G>C (p.Arg35037Thr) c.100508G>C (p.Arg33503Thr) c.100505G>C (p.Arg33502Thr) c.97547G>C (p.Arg32516Thr) c.79163G>C (p.Arg26388Thr) c.100658G>C (p.Arg33553Thr) c.100655G>C (p.Arg33552Thr) c.100088G>C (p.Arg33363Thr) c.97430G>C (p.Arg32477Thr) c.97349G>C (p.Arg32450Thr) c.79112G>C (p.Arg26371Thr) c.68966G>C (p.Arg22989Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530398C>T | CA1985144 | TTN,TTN-AS1 | c.98513G>A (p.Arg32838Lys) c.79598G>A (p.Arg26533Lys) c.79397G>A (p.Arg26466Lys) c.79022G>A (p.Arg26341Lys) c.106217G>A (p.Arg35406Lys) c.101294G>A (p.Arg33765Lys) n.446+6762C>T n.220-5334C>T c.105314G>A (p.Arg35105Lys) c.79208G>A (p.Arg26403Lys) c.79067G>A (p.Arg26356Lys) c.105110G>A (p.Arg35037Lys) c.100508G>A (p.Arg33503Lys) c.100505G>A (p.Arg33502Lys) c.97547G>A (p.Arg32516Lys) c.79163G>A (p.Arg26388Lys) c.100658G>A (p.Arg33553Lys) c.100655G>A (p.Arg33552Lys) c.100088G>A (p.Arg33363Lys) c.97430G>A (p.Arg32477Lys) c.97349G>A (p.Arg32450Lys) c.79112G>A (p.Arg26371Lys) c.68966G>A (p.Arg22989Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530399T>A | CA349406580 | TTN,TTN-AS1 | c.98512A>T (p.Arg32838Ter) c.79597A>T (p.Arg26533Ter) c.79396A>T (p.Arg26466Ter) c.79021A>T (p.Arg26341Ter) c.106216A>T (p.Arg35406Ter) c.101293A>T (p.Arg33765Ter) n.446+6763T>A n.220-5333T>A c.105313A>T (p.Arg35105Ter) c.79207A>T (p.Arg26403Ter) c.79066A>T (p.Arg26356Ter) c.105109A>T (p.Arg35037Ter) c.100507A>T (p.Arg33503Ter) c.100504A>T (p.Arg33502Ter) c.97546A>T (p.Arg32516Ter) c.79162A>T (p.Arg26388Ter) c.100657A>T (p.Arg33553Ter) c.100654A>T (p.Arg33552Ter) c.100087A>T (p.Arg33363Ter) c.97429A>T (p.Arg32477Ter) c.97348A>T (p.Arg32450Ter) c.79111A>T (p.Arg26371Ter) c.68965A>T (p.Arg22989Ter) | |
2 | g.178530399T>C | CA349406582 | TTN,TTN-AS1 | c.98512A>G (p.Arg32838Gly) c.79597A>G (p.Arg26533Gly) c.79396A>G (p.Arg26466Gly) c.79021A>G (p.Arg26341Gly) c.106216A>G (p.Arg35406Gly) c.101293A>G (p.Arg33765Gly) n.446+6763T>C n.220-5333T>C c.105313A>G (p.Arg35105Gly) c.79207A>G (p.Arg26403Gly) c.79066A>G (p.Arg26356Gly) c.105109A>G (p.Arg35037Gly) c.100507A>G (p.Arg33503Gly) c.100504A>G (p.Arg33502Gly) c.97546A>G (p.Arg32516Gly) c.79162A>G (p.Arg26388Gly) c.100657A>G (p.Arg33553Gly) c.100654A>G (p.Arg33552Gly) c.100087A>G (p.Arg33363Gly) c.97429A>G (p.Arg32477Gly) c.97348A>G (p.Arg32450Gly) c.79111A>G (p.Arg26371Gly) c.68965A>G (p.Arg22989Gly) | |
2 | g.178530399T>G | CA430235279 | TTN,TTN-AS1 | c.98512A>C (p.Arg32838=) c.79597A>C (p.Arg26533=) c.79396A>C (p.Arg26466=) c.79021A>C (p.Arg26341=) c.106216A>C (p.Arg35406=) c.101293A>C (p.Arg33765=) n.446+6763T>G n.220-5333T>G c.105313A>C (p.Arg35105=) c.79207A>C (p.Arg26403=) c.79066A>C (p.Arg26356=) c.105109A>C (p.Arg35037=) c.100507A>C (p.Arg33503=) c.100504A>C (p.Arg33502=) c.97546A>C (p.Arg32516=) c.79162A>C (p.Arg26388=) c.100657A>C (p.Arg33553=) c.100654A>C (p.Arg33552=) c.100087A>C (p.Arg33363=) c.97429A>C (p.Arg32477=) c.97348A>C (p.Arg32450=) c.79111A>C (p.Arg26371=) c.68965A>C (p.Arg22989=) | ClinVar dbSNP gnomAD v4 |
2 | g.178530399T= | CA1310514590 | TTN,TTN-AS1 | c.98512A= (p.Arg32838=) c.79597A= (p.Arg26533=) c.79396A= (p.Arg26466=) c.79021A= (p.Arg26341=) c.106216A= (p.Arg35406=) c.101293A= (p.Arg33765=) n.446+6763T= n.220-5333T= c.105313A= (p.Arg35105=) c.79207A= (p.Arg26403=) c.79066A= (p.Arg26356=) c.105109A= (p.Arg35037=) c.100507A= (p.Arg33503=) c.100504A= (p.Arg33502=) c.97546A= (p.Arg32516=) c.79162A= (p.Arg26388=) c.100657A= (p.Arg33553=) c.100654A= (p.Arg33552=) c.100087A= (p.Arg33363=) c.97429A= (p.Arg32477=) c.97348A= (p.Arg32450=) c.79111A= (p.Arg26371=) c.68965A= (p.Arg22989=) | |
2 | g.178530400G>A | CA10587441 | TTN,TTN-AS1 | c.98511C>T (p.Thr32837=) c.79596C>T (p.Thr26532=) c.79395C>T (p.Thr26465=) c.79020C>T (p.Thr26340=) c.106215C>T (p.Thr35405=) c.101292C>T (p.Thr33764=) n.446+6764G>A n.220-5332G>A c.105312C>T (p.Thr35104=) c.79206C>T (p.Thr26402=) c.79065C>T (p.Thr26355=) c.105108C>T (p.Thr35036=) c.100506C>T (p.Thr33502=) c.100503C>T (p.Thr33501=) c.97545C>T (p.Thr32515=) c.79161C>T (p.Thr26387=) c.100656C>T (p.Thr33552=) c.100653C>T (p.Thr33551=) c.100086C>T (p.Thr33362=) c.97428C>T (p.Thr32476=) c.97347C>T (p.Thr32449=) c.79110C>T (p.Thr26370=) c.68964C>T (p.Thr22988=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530400G>C | CA430235282 | TTN,TTN-AS1 | c.98511C>G (p.Thr32837=) c.79596C>G (p.Thr26532=) c.79395C>G (p.Thr26465=) c.79020C>G (p.Thr26340=) c.106215C>G (p.Thr35405=) c.101292C>G (p.Thr33764=) n.446+6764G>C n.220-5332G>C c.105312C>G (p.Thr35104=) c.79206C>G (p.Thr26402=) c.79065C>G (p.Thr26355=) c.105108C>G (p.Thr35036=) c.100506C>G (p.Thr33502=) c.100503C>G (p.Thr33501=) c.97545C>G (p.Thr32515=) c.79161C>G (p.Thr26387=) c.100656C>G (p.Thr33552=) c.100653C>G (p.Thr33551=) c.100086C>G (p.Thr33362=) c.97428C>G (p.Thr32476=) c.97347C>G (p.Thr32449=) c.79110C>G (p.Thr26370=) c.68964C>G (p.Thr22988=) | |
2 | g.178530400G= | CA1310514592 | TTN,TTN-AS1 | c.98511C= (p.Thr32837=) c.79596C= (p.Thr26532=) c.79395C= (p.Thr26465=) c.79020C= (p.Thr26340=) c.106215C= (p.Thr35405=) c.101292C= (p.Thr33764=) n.446+6764G= n.220-5332G= c.105312C= (p.Thr35104=) c.79206C= (p.Thr26402=) c.79065C= (p.Thr26355=) c.105108C= (p.Thr35036=) c.100506C= (p.Thr33502=) c.100503C= (p.Thr33501=) c.97545C= (p.Thr32515=) c.79161C= (p.Thr26387=) c.100656C= (p.Thr33552=) c.100653C= (p.Thr33551=) c.100086C= (p.Thr33362=) c.97428C= (p.Thr32476=) c.97347C= (p.Thr32449=) c.79110C= (p.Thr26370=) c.68964C= (p.Thr22988=) | |
2 | g.178530400G>T | CA430235280 | TTN,TTN-AS1 | c.98511C>A (p.Thr32837=) c.79596C>A (p.Thr26532=) c.79395C>A (p.Thr26465=) c.79020C>A (p.Thr26340=) c.106215C>A (p.Thr35405=) c.101292C>A (p.Thr33764=) n.446+6764G>T n.220-5332G>T c.105312C>A (p.Thr35104=) c.79206C>A (p.Thr26402=) c.79065C>A (p.Thr26355=) c.105108C>A (p.Thr35036=) c.100506C>A (p.Thr33502=) c.100503C>A (p.Thr33501=) c.97545C>A (p.Thr32515=) c.79161C>A (p.Thr26387=) c.100656C>A (p.Thr33552=) c.100653C>A (p.Thr33551=) c.100086C>A (p.Thr33362=) c.97428C>A (p.Thr32476=) c.97347C>A (p.Thr32449=) c.79110C>A (p.Thr26370=) c.68964C>A (p.Thr22988=) | |
2 | g.178530401G>A | CA349406586 | TTN,TTN-AS1 | c.98510C>T (p.Thr32837Ile) c.79595C>T (p.Thr26532Ile) c.79394C>T (p.Thr26465Ile) c.79019C>T (p.Thr26340Ile) c.106214C>T (p.Thr35405Ile) c.101291C>T (p.Thr33764Ile) n.446+6765G>A n.220-5331G>A c.105311C>T (p.Thr35104Ile) c.79205C>T (p.Thr26402Ile) c.79064C>T (p.Thr26355Ile) c.105107C>T (p.Thr35036Ile) c.100505C>T (p.Thr33502Ile) c.100502C>T (p.Thr33501Ile) c.97544C>T (p.Thr32515Ile) c.79160C>T (p.Thr26387Ile) c.100655C>T (p.Thr33552Ile) c.100652C>T (p.Thr33551Ile) c.100085C>T (p.Thr33362Ile) c.97427C>T (p.Thr32476Ile) c.97346C>T (p.Thr32449Ile) c.79109C>T (p.Thr26370Ile) c.68963C>T (p.Thr22988Ile) | |
2 | g.178530401G>C | CA349406588 | TTN,TTN-AS1 | c.98510C>G (p.Thr32837Ser) c.79595C>G (p.Thr26532Ser) c.79394C>G (p.Thr26465Ser) c.79019C>G (p.Thr26340Ser) c.106214C>G (p.Thr35405Ser) c.101291C>G (p.Thr33764Ser) n.446+6765G>C n.220-5331G>C c.105311C>G (p.Thr35104Ser) c.79205C>G (p.Thr26402Ser) c.79064C>G (p.Thr26355Ser) c.105107C>G (p.Thr35036Ser) c.100505C>G (p.Thr33502Ser) c.100502C>G (p.Thr33501Ser) c.97544C>G (p.Thr32515Ser) c.79160C>G (p.Thr26387Ser) c.100655C>G (p.Thr33552Ser) c.100652C>G (p.Thr33551Ser) c.100085C>G (p.Thr33362Ser) c.97427C>G (p.Thr32476Ser) c.97346C>G (p.Thr32449Ser) c.79109C>G (p.Thr26370Ser) c.68963C>G (p.Thr22988Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.178530401G= | CA1310514595 | TTN,TTN-AS1 | c.98510C= (p.Thr32837=) c.79595C= (p.Thr26532=) c.79394C= (p.Thr26465=) c.79019C= (p.Thr26340=) c.106214C= (p.Thr35405=) c.101291C= (p.Thr33764=) n.446+6765G= n.220-5331G= c.105311C= (p.Thr35104=) c.79205C= (p.Thr26402=) c.79064C= (p.Thr26355=) c.105107C= (p.Thr35036=) c.100505C= (p.Thr33502=) c.100502C= (p.Thr33501=) c.97544C= (p.Thr32515=) c.79160C= (p.Thr26387=) c.100655C= (p.Thr33552=) c.100652C= (p.Thr33551=) c.100085C= (p.Thr33362=) c.97427C= (p.Thr32476=) c.97346C= (p.Thr32449=) c.79109C= (p.Thr26370=) c.68963C= (p.Thr22988=) | |
2 | g.178530401G>T | CA349406593 | TTN,TTN-AS1 | c.98510C>A (p.Thr32837Asn) c.79595C>A (p.Thr26532Asn) c.79394C>A (p.Thr26465Asn) c.79019C>A (p.Thr26340Asn) c.106214C>A (p.Thr35405Asn) c.101291C>A (p.Thr33764Asn) n.446+6765G>T n.220-5331G>T c.105311C>A (p.Thr35104Asn) c.79205C>A (p.Thr26402Asn) c.79064C>A (p.Thr26355Asn) c.105107C>A (p.Thr35036Asn) c.100505C>A (p.Thr33502Asn) c.100502C>A (p.Thr33501Asn) c.97544C>A (p.Thr32515Asn) c.79160C>A (p.Thr26387Asn) c.100655C>A (p.Thr33552Asn) c.100652C>A (p.Thr33551Asn) c.100085C>A (p.Thr33362Asn) c.97427C>A (p.Thr32476Asn) c.97346C>A (p.Thr32449Asn) c.79109C>A (p.Thr26370Asn) c.68963C>A (p.Thr22988Asn) | |
2 | g.178530402T>A | CA349406595 | TTN,TTN-AS1 | c.98509A>T (p.Thr32837Ser) c.79594A>T (p.Thr26532Ser) c.79393A>T (p.Thr26465Ser) c.79018A>T (p.Thr26340Ser) c.106213A>T (p.Thr35405Ser) c.101290A>T (p.Thr33764Ser) n.446+6766T>A n.220-5330T>A c.105310A>T (p.Thr35104Ser) c.79204A>T (p.Thr26402Ser) c.79063A>T (p.Thr26355Ser) c.105106A>T (p.Thr35036Ser) c.100504A>T (p.Thr33502Ser) c.100501A>T (p.Thr33501Ser) c.97543A>T (p.Thr32515Ser) c.79159A>T (p.Thr26387Ser) c.100654A>T (p.Thr33552Ser) c.100651A>T (p.Thr33551Ser) c.100084A>T (p.Thr33362Ser) c.97426A>T (p.Thr32476Ser) c.97345A>T (p.Thr32449Ser) c.79108A>T (p.Thr26370Ser) c.68962A>T (p.Thr22988Ser) | |
2 | g.178530402T>C | CA349406598 | TTN,TTN-AS1 | c.98509A>G (p.Thr32837Ala) c.79594A>G (p.Thr26532Ala) c.79393A>G (p.Thr26465Ala) c.79018A>G (p.Thr26340Ala) c.106213A>G (p.Thr35405Ala) c.101290A>G (p.Thr33764Ala) n.446+6766T>C n.220-5330T>C c.105310A>G (p.Thr35104Ala) c.79204A>G (p.Thr26402Ala) c.79063A>G (p.Thr26355Ala) c.105106A>G (p.Thr35036Ala) c.100504A>G (p.Thr33502Ala) c.100501A>G (p.Thr33501Ala) c.97543A>G (p.Thr32515Ala) c.79159A>G (p.Thr26387Ala) c.100654A>G (p.Thr33552Ala) c.100651A>G (p.Thr33551Ala) c.100084A>G (p.Thr33362Ala) c.97426A>G (p.Thr32476Ala) c.97345A>G (p.Thr32449Ala) c.79108A>G (p.Thr26370Ala) c.68962A>G (p.Thr22988Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530402T>G | CA1985145 | TTN,TTN-AS1 | c.98509A>C (p.Thr32837Pro) c.79594A>C (p.Thr26532Pro) c.79393A>C (p.Thr26465Pro) c.79018A>C (p.Thr26340Pro) c.106213A>C (p.Thr35405Pro) c.101290A>C (p.Thr33764Pro) n.446+6766T>G n.220-5330T>G c.105310A>C (p.Thr35104Pro) c.79204A>C (p.Thr26402Pro) c.79063A>C (p.Thr26355Pro) c.105106A>C (p.Thr35036Pro) c.100504A>C (p.Thr33502Pro) c.100501A>C (p.Thr33501Pro) c.97543A>C (p.Thr32515Pro) c.79159A>C (p.Thr26387Pro) c.100654A>C (p.Thr33552Pro) c.100651A>C (p.Thr33551Pro) c.100084A>C (p.Thr33362Pro) c.97426A>C (p.Thr32476Pro) c.97345A>C (p.Thr32449Pro) c.79108A>C (p.Thr26370Pro) c.68962A>C (p.Thr22988Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530402T= | CA1310514598 | TTN,TTN-AS1 | c.98509A= (p.Thr32837=) c.79594A= (p.Thr26532=) c.79393A= (p.Thr26465=) c.79018A= (p.Thr26340=) c.106213A= (p.Thr35405=) c.101290A= (p.Thr33764=) n.446+6766T= n.220-5330T= c.105310A= (p.Thr35104=) c.79204A= (p.Thr26402=) c.79063A= (p.Thr26355=) c.105106A= (p.Thr35036=) c.100504A= (p.Thr33502=) c.100501A= (p.Thr33501=) c.97543A= (p.Thr32515=) c.79159A= (p.Thr26387=) c.100654A= (p.Thr33552=) c.100651A= (p.Thr33551=) c.100084A= (p.Thr33362=) c.97426A= (p.Thr32476=) c.97345A= (p.Thr32449=) c.79108A= (p.Thr26370=) c.68962A= (p.Thr22988=) | |
2 | g.178530403T>A | CA430235283 | TTN,TTN-AS1 | c.98508A>T (p.Val32836=) c.79593A>T (p.Val26531=) c.79392A>T (p.Val26464=) c.79017A>T (p.Val26339=) c.106212A>T (p.Val35404=) c.101289A>T (p.Val33763=) n.446+6767T>A n.220-5329T>A c.105309A>T (p.Val35103=) c.79203A>T (p.Val26401=) c.79062A>T (p.Val26354=) c.105105A>T (p.Val35035=) c.100503A>T (p.Val33501=) c.100500A>T (p.Val33500=) c.97542A>T (p.Val32514=) c.79158A>T (p.Val26386=) c.100653A>T (p.Val33551=) c.100650A>T (p.Val33550=) c.100083A>T (p.Val33361=) c.97425A>T (p.Val32475=) c.97344A>T (p.Val32448=) c.79107A>T (p.Val26369=) c.68961A>T (p.Val22987=) | |
2 | g.178530403T>C | CA430235284 | TTN,TTN-AS1 | c.98508A>G (p.Val32836=) c.79593A>G (p.Val26531=) c.79392A>G (p.Val26464=) c.79017A>G (p.Val26339=) c.106212A>G (p.Val35404=) c.101289A>G (p.Val33763=) n.446+6767T>C n.220-5329T>C c.105309A>G (p.Val35103=) c.79203A>G (p.Val26401=) c.79062A>G (p.Val26354=) c.105105A>G (p.Val35035=) c.100503A>G (p.Val33501=) c.100500A>G (p.Val33500=) c.97542A>G (p.Val32514=) c.79158A>G (p.Val26386=) c.100653A>G (p.Val33551=) c.100650A>G (p.Val33550=) c.100083A>G (p.Val33361=) c.97425A>G (p.Val32475=) c.97344A>G (p.Val32448=) c.79107A>G (p.Val26369=) c.68961A>G (p.Val22987=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530403T>G | CA430235286 | TTN,TTN-AS1 | c.98508A>C (p.Val32836=) c.79593A>C (p.Val26531=) c.79392A>C (p.Val26464=) c.79017A>C (p.Val26339=) c.106212A>C (p.Val35404=) c.101289A>C (p.Val33763=) n.446+6767T>G n.220-5329T>G c.105309A>C (p.Val35103=) c.79203A>C (p.Val26401=) c.79062A>C (p.Val26354=) c.105105A>C (p.Val35035=) c.100503A>C (p.Val33501=) c.100500A>C (p.Val33500=) c.97542A>C (p.Val32514=) c.79158A>C (p.Val26386=) c.100653A>C (p.Val33551=) c.100650A>C (p.Val33550=) c.100083A>C (p.Val33361=) c.97425A>C (p.Val32475=) c.97344A>C (p.Val32448=) c.79107A>C (p.Val26369=) c.68961A>C (p.Val22987=) | ClinVar dbSNP |
2 | g.178530403T= | CA1310514599 | TTN,TTN-AS1 | c.98508A= (p.Val32836=) c.79593A= (p.Val26531=) c.79392A= (p.Val26464=) c.79017A= (p.Val26339=) c.106212A= (p.Val35404=) c.101289A= (p.Val33763=) n.446+6767T= n.220-5329T= c.105309A= (p.Val35103=) c.79203A= (p.Val26401=) c.79062A= (p.Val26354=) c.105105A= (p.Val35035=) c.100503A= (p.Val33501=) c.100500A= (p.Val33500=) c.97542A= (p.Val32514=) c.79158A= (p.Val26386=) c.100653A= (p.Val33551=) c.100650A= (p.Val33550=) c.100083A= (p.Val33361=) c.97425A= (p.Val32475=) c.97344A= (p.Val32448=) c.79107A= (p.Val26369=) c.68961A= (p.Val22987=) | |
2 | g.178530404A= | CA1310514601 | TTN,TTN-AS1 | c.98507T= (p.Val32836=) c.79592T= (p.Val26531=) c.79391T= (p.Val26464=) c.79016T= (p.Val26339=) c.106211T= (p.Val35404=) c.101288T= (p.Val33763=) n.446+6768A= n.220-5328A= c.105308T= (p.Val35103=) c.79202T= (p.Val26401=) c.79061T= (p.Val26354=) c.105104T= (p.Val35035=) c.100502T= (p.Val33501=) c.100499T= (p.Val33500=) c.97541T= (p.Val32514=) c.79157T= (p.Val26386=) c.100652T= (p.Val33551=) c.100649T= (p.Val33550=) c.100082T= (p.Val33361=) c.97424T= (p.Val32475=) c.97343T= (p.Val32448=) c.79106T= (p.Val26369=) c.68960T= (p.Val22987=) | |
2 | g.178530404A>C | CA349406599 | TTN,TTN-AS1 | c.98507T>G (p.Val32836Gly) c.79592T>G (p.Val26531Gly) c.79391T>G (p.Val26464Gly) c.79016T>G (p.Val26339Gly) c.106211T>G (p.Val35404Gly) c.101288T>G (p.Val33763Gly) n.446+6768A>C n.220-5328A>C c.105308T>G (p.Val35103Gly) c.79202T>G (p.Val26401Gly) c.79061T>G (p.Val26354Gly) c.105104T>G (p.Val35035Gly) c.100502T>G (p.Val33501Gly) c.100499T>G (p.Val33500Gly) c.97541T>G (p.Val32514Gly) c.79157T>G (p.Val26386Gly) c.100652T>G (p.Val33551Gly) c.100649T>G (p.Val33550Gly) c.100082T>G (p.Val33361Gly) c.97424T>G (p.Val32475Gly) c.97343T>G (p.Val32448Gly) c.79106T>G (p.Val26369Gly) c.68960T>G (p.Val22987Gly) | |
2 | g.178530404A>G | CA349406600 | TTN,TTN-AS1 | c.98507T>C (p.Val32836Ala) c.79592T>C (p.Val26531Ala) c.79391T>C (p.Val26464Ala) c.79016T>C (p.Val26339Ala) c.106211T>C (p.Val35404Ala) c.101288T>C (p.Val33763Ala) n.446+6768A>G n.220-5328A>G c.105308T>C (p.Val35103Ala) c.79202T>C (p.Val26401Ala) c.79061T>C (p.Val26354Ala) c.105104T>C (p.Val35035Ala) c.100502T>C (p.Val33501Ala) c.100499T>C (p.Val33500Ala) c.97541T>C (p.Val32514Ala) c.79157T>C (p.Val26386Ala) c.100652T>C (p.Val33551Ala) c.100649T>C (p.Val33550Ala) c.100082T>C (p.Val33361Ala) c.97424T>C (p.Val32475Ala) c.97343T>C (p.Val32448Ala) c.79106T>C (p.Val26369Ala) c.68960T>C (p.Val22987Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.178530404A>T | CA349406601 | TTN,TTN-AS1 | c.98507T>A (p.Val32836Glu) c.79592T>A (p.Val26531Glu) c.79391T>A (p.Val26464Glu) c.79016T>A (p.Val26339Glu) c.106211T>A (p.Val35404Glu) c.101288T>A (p.Val33763Glu) n.446+6768A>T n.220-5328A>T c.105308T>A (p.Val35103Glu) c.79202T>A (p.Val26401Glu) c.79061T>A (p.Val26354Glu) c.105104T>A (p.Val35035Glu) c.100502T>A (p.Val33501Glu) c.100499T>A (p.Val33500Glu) c.97541T>A (p.Val32514Glu) c.79157T>A (p.Val26386Glu) c.100652T>A (p.Val33551Glu) c.100649T>A (p.Val33550Glu) c.100082T>A (p.Val33361Glu) c.97424T>A (p.Val32475Glu) c.97343T>A (p.Val32448Glu) c.79106T>A (p.Val26369Glu) c.68960T>A (p.Val22987Glu) | dbSNP |
2 | g.178530405C>A | CA349406602 | TTN,TTN-AS1 | c.98506G>T (p.Val32836Leu) c.79591G>T (p.Val26531Leu) c.79390G>T (p.Val26464Leu) c.79015G>T (p.Val26339Leu) c.106210G>T (p.Val35404Leu) c.101287G>T (p.Val33763Leu) n.446+6769C>A n.220-5327C>A c.105307G>T (p.Val35103Leu) c.79201G>T (p.Val26401Leu) c.79060G>T (p.Val26354Leu) c.105103G>T (p.Val35035Leu) c.100501G>T (p.Val33501Leu) c.100498G>T (p.Val33500Leu) c.97540G>T (p.Val32514Leu) c.79156G>T (p.Val26386Leu) c.100651G>T (p.Val33551Leu) c.100648G>T (p.Val33550Leu) c.100081G>T (p.Val33361Leu) c.97423G>T (p.Val32475Leu) c.97342G>T (p.Val32448Leu) c.79105G>T (p.Val26369Leu) c.68959G>T (p.Val22987Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530405C= | CA1310514603 | TTN,TTN-AS1 | c.98506G= (p.Val32836=) c.79591G= (p.Val26531=) c.79390G= (p.Val26464=) c.79015G= (p.Val26339=) c.106210G= (p.Val35404=) c.101287G= (p.Val33763=) n.446+6769C= n.220-5327C= c.105307G= (p.Val35103=) c.79201G= (p.Val26401=) c.79060G= (p.Val26354=) c.105103G= (p.Val35035=) c.100501G= (p.Val33501=) c.100498G= (p.Val33500=) c.97540G= (p.Val32514=) c.79156G= (p.Val26386=) c.100651G= (p.Val33551=) c.100648G= (p.Val33550=) c.100081G= (p.Val33361=) c.97423G= (p.Val32475=) c.97342G= (p.Val32448=) c.79105G= (p.Val26369=) c.68959G= (p.Val22987=) | |
2 | g.178530405C>G | CA349406603 | TTN,TTN-AS1 | c.98506G>C (p.Val32836Leu) c.79591G>C (p.Val26531Leu) c.79390G>C (p.Val26464Leu) c.79015G>C (p.Val26339Leu) c.106210G>C (p.Val35404Leu) c.101287G>C (p.Val33763Leu) n.446+6769C>G n.220-5327C>G c.105307G>C (p.Val35103Leu) c.79201G>C (p.Val26401Leu) c.79060G>C (p.Val26354Leu) c.105103G>C (p.Val35035Leu) c.100501G>C (p.Val33501Leu) c.100498G>C (p.Val33500Leu) c.97540G>C (p.Val32514Leu) c.79156G>C (p.Val26386Leu) c.100651G>C (p.Val33551Leu) c.100648G>C (p.Val33550Leu) c.100081G>C (p.Val33361Leu) c.97423G>C (p.Val32475Leu) c.97342G>C (p.Val32448Leu) c.79105G>C (p.Val26369Leu) c.68959G>C (p.Val22987Leu) | |
2 | g.178530405C>T | CA1985146 | TTN,TTN-AS1 | c.98506G>A (p.Val32836Ile) c.79591G>A (p.Val26531Ile) c.79390G>A (p.Val26464Ile) c.79015G>A (p.Val26339Ile) c.106210G>A (p.Val35404Ile) c.101287G>A (p.Val33763Ile) n.446+6769C>T n.220-5327C>T c.105307G>A (p.Val35103Ile) c.79201G>A (p.Val26401Ile) c.79060G>A (p.Val26354Ile) c.105103G>A (p.Val35035Ile) c.100501G>A (p.Val33501Ile) c.100498G>A (p.Val33500Ile) c.97540G>A (p.Val32514Ile) c.79156G>A (p.Val26386Ile) c.100651G>A (p.Val33551Ile) c.100648G>A (p.Val33550Ile) c.100081G>A (p.Val33361Ile) c.97423G>A (p.Val32475Ile) c.97342G>A (p.Val32448Ile) c.79105G>A (p.Val26369Ile) c.68959G>A (p.Val22987Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530406T>A | CA430235288 | TTN,TTN-AS1 | c.98505A>T (p.Thr32835=) c.79590A>T (p.Thr26530=) c.79389A>T (p.Thr26463=) c.79014A>T (p.Thr26338=) c.106209A>T (p.Thr35403=) c.101286A>T (p.Thr33762=) n.446+6770T>A n.220-5326T>A c.105306A>T (p.Thr35102=) c.79200A>T (p.Thr26400=) c.79059A>T (p.Thr26353=) c.105102A>T (p.Thr35034=) c.100500A>T (p.Thr33500=) c.100497A>T (p.Thr33499=) c.97539A>T (p.Thr32513=) c.79155A>T (p.Thr26385=) c.100650A>T (p.Thr33550=) c.100647A>T (p.Thr33549=) c.100080A>T (p.Thr33360=) c.97422A>T (p.Thr32474=) c.97341A>T (p.Thr32447=) c.79104A>T (p.Thr26368=) c.68958A>T (p.Thr22986=) | |
2 | g.178530406T>C | CA430235290 | TTN,TTN-AS1 | c.98505A>G (p.Thr32835=) c.79590A>G (p.Thr26530=) c.79389A>G (p.Thr26463=) c.79014A>G (p.Thr26338=) c.106209A>G (p.Thr35403=) c.101286A>G (p.Thr33762=) n.446+6770T>C n.220-5326T>C c.105306A>G (p.Thr35102=) c.79200A>G (p.Thr26400=) c.79059A>G (p.Thr26353=) c.105102A>G (p.Thr35034=) c.100500A>G (p.Thr33500=) c.100497A>G (p.Thr33499=) c.97539A>G (p.Thr32513=) c.79155A>G (p.Thr26385=) c.100650A>G (p.Thr33550=) c.100647A>G (p.Thr33549=) c.100080A>G (p.Thr33360=) c.97422A>G (p.Thr32474=) c.97341A>G (p.Thr32447=) c.79104A>G (p.Thr26368=) c.68958A>G (p.Thr22986=) | gnomAD v4 |
2 | g.178530406T>G | CA430235291 | TTN,TTN-AS1 | c.98505A>C (p.Thr32835=) c.79590A>C (p.Thr26530=) c.79389A>C (p.Thr26463=) c.79014A>C (p.Thr26338=) c.106209A>C (p.Thr35403=) c.101286A>C (p.Thr33762=) n.446+6770T>G n.220-5326T>G c.105306A>C (p.Thr35102=) c.79200A>C (p.Thr26400=) c.79059A>C (p.Thr26353=) c.105102A>C (p.Thr35034=) c.100500A>C (p.Thr33500=) c.100497A>C (p.Thr33499=) c.97539A>C (p.Thr32513=) c.79155A>C (p.Thr26385=) c.100650A>C (p.Thr33550=) c.100647A>C (p.Thr33549=) c.100080A>C (p.Thr33360=) c.97422A>C (p.Thr32474=) c.97341A>C (p.Thr32447=) c.79104A>C (p.Thr26368=) c.68958A>C (p.Thr22986=) | |
2 | g.178530406dup | CA2586970736 | TTN,TTN-AS1 | c.98505dup (p.Val32836SerfsTer6) c.79590dup (p.Val26531SerfsTer6) c.79389dup (p.Val26464SerfsTer6) c.79014dup (p.Val26339SerfsTer6) c.106209dup (p.Val35404SerfsTer6) c.101286dup (p.Val33763SerfsTer6) n.446+6770dup n.220-5326dup c.105306dup (p.Val35103SerfsTer6) c.79200dup (p.Val26401SerfsTer6) c.79059dup (p.Val26354SerfsTer6) c.105102dup (p.Val35035SerfsTer6) c.100500dup (p.Val33501SerfsTer6) c.100497dup (p.Val33500SerfsTer6) c.97539dup (p.Val32514SerfsTer6) c.79155dup (p.Val26386SerfsTer6) c.100650dup (p.Val33551SerfsTer6) c.100647dup (p.Val33550SerfsTer6) c.100080dup (p.Val33361SerfsTer6) c.97422dup (p.Val32475SerfsTer6) c.97341dup (p.Val32448SerfsTer6) c.79104dup (p.Val26369SerfsTer6) c.68958dup (p.Val22987SerfsTer6) | |
2 | g.178530407G>A | CA349406604 | TTN,TTN-AS1 | c.98504C>T (p.Thr32835Ile) c.79589C>T (p.Thr26530Ile) c.79388C>T (p.Thr26463Ile) c.79013C>T (p.Thr26338Ile) c.106208C>T (p.Thr35403Ile) c.101285C>T (p.Thr33762Ile) n.446+6771G>A n.220-5325G>A c.105305C>T (p.Thr35102Ile) c.79199C>T (p.Thr26400Ile) c.79058C>T (p.Thr26353Ile) c.105101C>T (p.Thr35034Ile) c.100499C>T (p.Thr33500Ile) c.100496C>T (p.Thr33499Ile) c.97538C>T (p.Thr32513Ile) c.79154C>T (p.Thr26385Ile) c.100649C>T (p.Thr33550Ile) c.100646C>T (p.Thr33549Ile) c.100079C>T (p.Thr33360Ile) c.97421C>T (p.Thr32474Ile) c.97340C>T (p.Thr32447Ile) c.79103C>T (p.Thr26368Ile) c.68957C>T (p.Thr22986Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530407G>C | CA349406605 | TTN,TTN-AS1 | c.98504C>G (p.Thr32835Arg) c.79589C>G (p.Thr26530Arg) c.79388C>G (p.Thr26463Arg) c.79013C>G (p.Thr26338Arg) c.106208C>G (p.Thr35403Arg) c.101285C>G (p.Thr33762Arg) n.446+6771G>C n.220-5325G>C c.105305C>G (p.Thr35102Arg) c.79199C>G (p.Thr26400Arg) c.79058C>G (p.Thr26353Arg) c.105101C>G (p.Thr35034Arg) c.100499C>G (p.Thr33500Arg) c.100496C>G (p.Thr33499Arg) c.97538C>G (p.Thr32513Arg) c.79154C>G (p.Thr26385Arg) c.100649C>G (p.Thr33550Arg) c.100646C>G (p.Thr33549Arg) c.100079C>G (p.Thr33360Arg) c.97421C>G (p.Thr32474Arg) c.97340C>G (p.Thr32447Arg) c.79103C>G (p.Thr26368Arg) c.68957C>G (p.Thr22986Arg) | |
2 | g.178530407G= | CA1310514604 | TTN,TTN-AS1 | c.98504C= (p.Thr32835=) c.79589C= (p.Thr26530=) c.79388C= (p.Thr26463=) c.79013C= (p.Thr26338=) c.106208C= (p.Thr35403=) c.101285C= (p.Thr33762=) n.446+6771G= n.220-5325G= c.105305C= (p.Thr35102=) c.79199C= (p.Thr26400=) c.79058C= (p.Thr26353=) c.105101C= (p.Thr35034=) c.100499C= (p.Thr33500=) c.100496C= (p.Thr33499=) c.97538C= (p.Thr32513=) c.79154C= (p.Thr26385=) c.100649C= (p.Thr33550=) c.100646C= (p.Thr33549=) c.100079C= (p.Thr33360=) c.97421C= (p.Thr32474=) c.97340C= (p.Thr32447=) c.79103C= (p.Thr26368=) c.68957C= (p.Thr22986=) | |
2 | g.178530407G>T | CA349406606 | TTN,TTN-AS1 | c.98504C>A (p.Thr32835Lys) c.79589C>A (p.Thr26530Lys) c.79388C>A (p.Thr26463Lys) c.79013C>A (p.Thr26338Lys) c.106208C>A (p.Thr35403Lys) c.101285C>A (p.Thr33762Lys) n.446+6771G>T n.220-5325G>T c.105305C>A (p.Thr35102Lys) c.79199C>A (p.Thr26400Lys) c.79058C>A (p.Thr26353Lys) c.105101C>A (p.Thr35034Lys) c.100499C>A (p.Thr33500Lys) c.100496C>A (p.Thr33499Lys) c.97538C>A (p.Thr32513Lys) c.79154C>A (p.Thr26385Lys) c.100649C>A (p.Thr33550Lys) c.100646C>A (p.Thr33549Lys) c.100079C>A (p.Thr33360Lys) c.97421C>A (p.Thr32474Lys) c.97340C>A (p.Thr32447Lys) c.79103C>A (p.Thr26368Lys) c.68957C>A (p.Thr22986Lys) | |
2 | g.178530408T>A | CA349406609 | TTN,TTN-AS1 | c.98503A>T (p.Thr32835Ser) c.79588A>T (p.Thr26530Ser) c.79387A>T (p.Thr26463Ser) c.79012A>T (p.Thr26338Ser) c.106207A>T (p.Thr35403Ser) c.101284A>T (p.Thr33762Ser) n.446+6772T>A n.220-5324T>A c.105304A>T (p.Thr35102Ser) c.79198A>T (p.Thr26400Ser) c.79057A>T (p.Thr26353Ser) c.105100A>T (p.Thr35034Ser) c.100498A>T (p.Thr33500Ser) c.100495A>T (p.Thr33499Ser) c.97537A>T (p.Thr32513Ser) c.79153A>T (p.Thr26385Ser) c.100648A>T (p.Thr33550Ser) c.100645A>T (p.Thr33549Ser) c.100078A>T (p.Thr33360Ser) c.97420A>T (p.Thr32474Ser) c.97339A>T (p.Thr32447Ser) c.79102A>T (p.Thr26368Ser) c.68956A>T (p.Thr22986Ser) | |
2 | g.178530408T>C | CA349406611 | TTN,TTN-AS1 | c.98503A>G (p.Thr32835Ala) c.79588A>G (p.Thr26530Ala) c.79387A>G (p.Thr26463Ala) c.79012A>G (p.Thr26338Ala) c.106207A>G (p.Thr35403Ala) c.101284A>G (p.Thr33762Ala) n.446+6772T>C n.220-5324T>C c.105304A>G (p.Thr35102Ala) c.79198A>G (p.Thr26400Ala) c.79057A>G (p.Thr26353Ala) c.105100A>G (p.Thr35034Ala) c.100498A>G (p.Thr33500Ala) c.100495A>G (p.Thr33499Ala) c.97537A>G (p.Thr32513Ala) c.79153A>G (p.Thr26385Ala) c.100648A>G (p.Thr33550Ala) c.100645A>G (p.Thr33549Ala) c.100078A>G (p.Thr33360Ala) c.97420A>G (p.Thr32474Ala) c.97339A>G (p.Thr32447Ala) c.79102A>G (p.Thr26368Ala) c.68956A>G (p.Thr22986Ala) | |
2 | g.178530408T>G | CA349406613 | TTN,TTN-AS1 | c.98503A>C (p.Thr32835Pro) c.79588A>C (p.Thr26530Pro) c.79387A>C (p.Thr26463Pro) c.79012A>C (p.Thr26338Pro) c.106207A>C (p.Thr35403Pro) c.101284A>C (p.Thr33762Pro) n.446+6772T>G n.220-5324T>G c.105304A>C (p.Thr35102Pro) c.79198A>C (p.Thr26400Pro) c.79057A>C (p.Thr26353Pro) c.105100A>C (p.Thr35034Pro) c.100498A>C (p.Thr33500Pro) c.100495A>C (p.Thr33499Pro) c.97537A>C (p.Thr32513Pro) c.79153A>C (p.Thr26385Pro) c.100648A>C (p.Thr33550Pro) c.100645A>C (p.Thr33549Pro) c.100078A>C (p.Thr33360Pro) c.97420A>C (p.Thr32474Pro) c.97339A>C (p.Thr32447Pro) c.79102A>C (p.Thr26368Pro) c.68956A>C (p.Thr22986Pro) | gnomAD v4 |
2 | g.178530409T>A | CA430235293 | TTN,TTN-AS1 | c.98502A>T (p.Ser32834=) c.79587A>T (p.Ser26529=) c.79386A>T (p.Ser26462=) c.79011A>T (p.Ser26337=) c.106206A>T (p.Ser35402=) c.101283A>T (p.Ser33761=) n.446+6773T>A n.220-5323T>A c.105303A>T (p.Ser35101=) c.79197A>T (p.Ser26399=) c.79056A>T (p.Ser26352=) c.105099A>T (p.Ser35033=) c.100497A>T (p.Ser33499=) c.100494A>T (p.Ser33498=) c.97536A>T (p.Ser32512=) c.79152A>T (p.Ser26384=) c.100647A>T (p.Ser33549=) c.100644A>T (p.Ser33548=) c.100077A>T (p.Ser33359=) c.97419A>T (p.Ser32473=) c.97338A>T (p.Ser32446=) c.79101A>T (p.Ser26367=) c.68955A>T (p.Ser22985=) | |
2 | g.178530409T>C | CA430235294 | TTN,TTN-AS1 | c.98502A>G (p.Ser32834=) c.79587A>G (p.Ser26529=) c.79386A>G (p.Ser26462=) c.79011A>G (p.Ser26337=) c.106206A>G (p.Ser35402=) c.101283A>G (p.Ser33761=) n.446+6773T>C n.220-5323T>C c.105303A>G (p.Ser35101=) c.79197A>G (p.Ser26399=) c.79056A>G (p.Ser26352=) c.105099A>G (p.Ser35033=) c.100497A>G (p.Ser33499=) c.100494A>G (p.Ser33498=) c.97536A>G (p.Ser32512=) c.79152A>G (p.Ser26384=) c.100647A>G (p.Ser33549=) c.100644A>G (p.Ser33548=) c.100077A>G (p.Ser33359=) c.97419A>G (p.Ser32473=) c.97338A>G (p.Ser32446=) c.79101A>G (p.Ser26367=) c.68955A>G (p.Ser22985=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530409T>G | CA430235295 | TTN,TTN-AS1 | c.98502A>C (p.Ser32834=) c.79587A>C (p.Ser26529=) c.79386A>C (p.Ser26462=) c.79011A>C (p.Ser26337=) c.106206A>C (p.Ser35402=) c.101283A>C (p.Ser33761=) n.446+6773T>G n.220-5323T>G c.105303A>C (p.Ser35101=) c.79197A>C (p.Ser26399=) c.79056A>C (p.Ser26352=) c.105099A>C (p.Ser35033=) c.100497A>C (p.Ser33499=) c.100494A>C (p.Ser33498=) c.97536A>C (p.Ser32512=) c.79152A>C (p.Ser26384=) c.100647A>C (p.Ser33549=) c.100644A>C (p.Ser33548=) c.100077A>C (p.Ser33359=) c.97419A>C (p.Ser32473=) c.97338A>C (p.Ser32446=) c.79101A>C (p.Ser26367=) c.68955A>C (p.Ser22985=) | gnomAD v4 |
2 | g.178530409T= | CA1310514606 | TTN,TTN-AS1 | c.98502A= (p.Ser32834=) c.79587A= (p.Ser26529=) c.79386A= (p.Ser26462=) c.79011A= (p.Ser26337=) c.106206A= (p.Ser35402=) c.101283A= (p.Ser33761=) n.446+6773T= n.220-5323T= c.105303A= (p.Ser35101=) c.79197A= (p.Ser26399=) c.79056A= (p.Ser26352=) c.105099A= (p.Ser35033=) c.100497A= (p.Ser33499=) c.100494A= (p.Ser33498=) c.97536A= (p.Ser32512=) c.79152A= (p.Ser26384=) c.100647A= (p.Ser33549=) c.100644A= (p.Ser33548=) c.100077A= (p.Ser33359=) c.97419A= (p.Ser32473=) c.97338A= (p.Ser32446=) c.79101A= (p.Ser26367=) c.68955A= (p.Ser22985=) | |
2 | g.178530410G>A | CA349406615 | TTN,TTN-AS1 | c.98501C>T (p.Ser32834Leu) c.79586C>T (p.Ser26529Leu) c.79385C>T (p.Ser26462Leu) c.79010C>T (p.Ser26337Leu) c.106205C>T (p.Ser35402Leu) c.101282C>T (p.Ser33761Leu) n.446+6774G>A n.220-5322G>A c.105302C>T (p.Ser35101Leu) c.79196C>T (p.Ser26399Leu) c.79055C>T (p.Ser26352Leu) c.105098C>T (p.Ser35033Leu) c.100496C>T (p.Ser33499Leu) c.100493C>T (p.Ser33498Leu) c.97535C>T (p.Ser32512Leu) c.79151C>T (p.Ser26384Leu) c.100646C>T (p.Ser33549Leu) c.100643C>T (p.Ser33548Leu) c.100076C>T (p.Ser33359Leu) c.97418C>T (p.Ser32473Leu) c.97337C>T (p.Ser32446Leu) c.79100C>T (p.Ser26367Leu) c.68954C>T (p.Ser22985Leu) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530410G>C | CA349406617 | TTN,TTN-AS1 | c.98501C>G (p.Ser32834Ter) c.79586C>G (p.Ser26529Ter) c.79385C>G (p.Ser26462Ter) c.79010C>G (p.Ser26337Ter) c.106205C>G (p.Ser35402Ter) c.101282C>G (p.Ser33761Ter) n.446+6774G>C n.220-5322G>C c.105302C>G (p.Ser35101Ter) c.79196C>G (p.Ser26399Ter) c.79055C>G (p.Ser26352Ter) c.105098C>G (p.Ser35033Ter) c.100496C>G (p.Ser33499Ter) c.100493C>G (p.Ser33498Ter) c.97535C>G (p.Ser32512Ter) c.79151C>G (p.Ser26384Ter) c.100646C>G (p.Ser33549Ter) c.100643C>G (p.Ser33548Ter) c.100076C>G (p.Ser33359Ter) c.97418C>G (p.Ser32473Ter) c.97337C>G (p.Ser32446Ter) c.79100C>G (p.Ser26367Ter) c.68954C>G (p.Ser22985Ter) | |
2 | g.178530410G>T | CA349406619 | TTN,TTN-AS1 | c.98501C>A (p.Ser32834Ter) c.79586C>A (p.Ser26529Ter) c.79385C>A (p.Ser26462Ter) c.79010C>A (p.Ser26337Ter) c.106205C>A (p.Ser35402Ter) c.101282C>A (p.Ser33761Ter) n.446+6774G>T n.220-5322G>T c.105302C>A (p.Ser35101Ter) c.79196C>A (p.Ser26399Ter) c.79055C>A (p.Ser26352Ter) c.105098C>A (p.Ser35033Ter) c.100496C>A (p.Ser33499Ter) c.100493C>A (p.Ser33498Ter) c.97535C>A (p.Ser32512Ter) c.79151C>A (p.Ser26384Ter) c.100646C>A (p.Ser33549Ter) c.100643C>A (p.Ser33548Ter) c.100076C>A (p.Ser33359Ter) c.97418C>A (p.Ser32473Ter) c.97337C>A (p.Ser32446Ter) c.79100C>A (p.Ser26367Ter) c.68954C>A (p.Ser22985Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530411A>C | CA349406621 | TTN,TTN-AS1 | c.98500T>G (p.Ser32834Ala) c.79585T>G (p.Ser26529Ala) c.79384T>G (p.Ser26462Ala) c.79009T>G (p.Ser26337Ala) c.106204T>G (p.Ser35402Ala) c.101281T>G (p.Ser33761Ala) n.446+6775A>C n.220-5321A>C c.105301T>G (p.Ser35101Ala) c.79195T>G (p.Ser26399Ala) c.79054T>G (p.Ser26352Ala) c.105097T>G (p.Ser35033Ala) c.100495T>G (p.Ser33499Ala) c.100492T>G (p.Ser33498Ala) c.97534T>G (p.Ser32512Ala) c.79150T>G (p.Ser26384Ala) c.100645T>G (p.Ser33549Ala) c.100642T>G (p.Ser33548Ala) c.100075T>G (p.Ser33359Ala) c.97417T>G (p.Ser32473Ala) c.97336T>G (p.Ser32446Ala) c.79099T>G (p.Ser26367Ala) c.68953T>G (p.Ser22985Ala) | |
2 | g.178530411A>G | CA349406622 | TTN,TTN-AS1 | c.98500T>C (p.Ser32834Pro) c.79585T>C (p.Ser26529Pro) c.79384T>C (p.Ser26462Pro) c.79009T>C (p.Ser26337Pro) c.106204T>C (p.Ser35402Pro) c.101281T>C (p.Ser33761Pro) n.446+6775A>G n.220-5321A>G c.105301T>C (p.Ser35101Pro) c.79195T>C (p.Ser26399Pro) c.79054T>C (p.Ser26352Pro) c.105097T>C (p.Ser35033Pro) c.100495T>C (p.Ser33499Pro) c.100492T>C (p.Ser33498Pro) c.97534T>C (p.Ser32512Pro) c.79150T>C (p.Ser26384Pro) c.100645T>C (p.Ser33549Pro) c.100642T>C (p.Ser33548Pro) c.100075T>C (p.Ser33359Pro) c.97417T>C (p.Ser32473Pro) c.97336T>C (p.Ser32446Pro) c.79099T>C (p.Ser26367Pro) c.68953T>C (p.Ser22985Pro) | |
2 | g.178530411A>T | CA349406624 | TTN,TTN-AS1 | c.98500T>A (p.Ser32834Thr) c.79585T>A (p.Ser26529Thr) c.79384T>A (p.Ser26462Thr) c.79009T>A (p.Ser26337Thr) c.106204T>A (p.Ser35402Thr) c.101281T>A (p.Ser33761Thr) n.446+6775A>T n.220-5321A>T c.105301T>A (p.Ser35101Thr) c.79195T>A (p.Ser26399Thr) c.79054T>A (p.Ser26352Thr) c.105097T>A (p.Ser35033Thr) c.100495T>A (p.Ser33499Thr) c.100492T>A (p.Ser33498Thr) c.97534T>A (p.Ser32512Thr) c.79150T>A (p.Ser26384Thr) c.100645T>A (p.Ser33549Thr) c.100642T>A (p.Ser33548Thr) c.100075T>A (p.Ser33359Thr) c.97417T>A (p.Ser32473Thr) c.97336T>A (p.Ser32446Thr) c.79099T>A (p.Ser26367Thr) c.68953T>A (p.Ser22985Thr) | |
2 | g.178530412C>A | CA349406630 | TTN,TTN-AS1 | c.98499G>T (p.Glu32833Asp) c.79584G>T (p.Glu26528Asp) c.79383G>T (p.Glu26461Asp) c.79008G>T (p.Glu26336Asp) c.106203G>T (p.Glu35401Asp) c.101280G>T (p.Glu33760Asp) n.446+6776C>A n.220-5320C>A c.105300G>T (p.Glu35100Asp) c.79194G>T (p.Glu26398Asp) c.79053G>T (p.Glu26351Asp) c.105096G>T (p.Glu35032Asp) c.100494G>T (p.Glu33498Asp) c.100491G>T (p.Glu33497Asp) c.97533G>T (p.Glu32511Asp) c.79149G>T (p.Glu26383Asp) c.100644G>T (p.Glu33548Asp) c.100641G>T (p.Glu33547Asp) c.100074G>T (p.Glu33358Asp) c.97416G>T (p.Glu32472Asp) c.97335G>T (p.Glu32445Asp) c.79098G>T (p.Glu26366Asp) c.68952G>T (p.Glu22984Asp) | gnomAD v4 |
2 | g.178530412C= | CA1310514608 | TTN,TTN-AS1 | c.98499G= (p.Glu32833=) c.79584G= (p.Glu26528=) c.79383G= (p.Glu26461=) c.79008G= (p.Glu26336=) c.106203G= (p.Glu35401=) c.101280G= (p.Glu33760=) n.446+6776C= n.220-5320C= c.105300G= (p.Glu35100=) c.79194G= (p.Glu26398=) c.79053G= (p.Glu26351=) c.105096G= (p.Glu35032=) c.100494G= (p.Glu33498=) c.100491G= (p.Glu33497=) c.97533G= (p.Glu32511=) c.79149G= (p.Glu26383=) c.100644G= (p.Glu33548=) c.100641G= (p.Glu33547=) c.100074G= (p.Glu33358=) c.97416G= (p.Glu32472=) c.97335G= (p.Glu32445=) c.79098G= (p.Glu26366=) c.68952G= (p.Glu22984=) | |
2 | g.178530412C>G | CA349406627 | TTN,TTN-AS1 | c.98499G>C (p.Glu32833Asp) c.79584G>C (p.Glu26528Asp) c.79383G>C (p.Glu26461Asp) c.79008G>C (p.Glu26336Asp) c.106203G>C (p.Glu35401Asp) c.101280G>C (p.Glu33760Asp) n.446+6776C>G n.220-5320C>G c.105300G>C (p.Glu35100Asp) c.79194G>C (p.Glu26398Asp) c.79053G>C (p.Glu26351Asp) c.105096G>C (p.Glu35032Asp) c.100494G>C (p.Glu33498Asp) c.100491G>C (p.Glu33497Asp) c.97533G>C (p.Glu32511Asp) c.79149G>C (p.Glu26383Asp) c.100644G>C (p.Glu33548Asp) c.100641G>C (p.Glu33547Asp) c.100074G>C (p.Glu33358Asp) c.97416G>C (p.Glu32472Asp) c.97335G>C (p.Glu32445Asp) c.79098G>C (p.Glu26366Asp) c.68952G>C (p.Glu22984Asp) | |
2 | g.178530412C>T | CA1985147 | TTN,TTN-AS1 | c.98499G>A (p.Glu32833=) c.79584G>A (p.Glu26528=) c.79383G>A (p.Glu26461=) c.79008G>A (p.Glu26336=) c.106203G>A (p.Glu35401=) c.101280G>A (p.Glu33760=) n.446+6776C>T n.220-5320C>T c.105300G>A (p.Glu35100=) c.79194G>A (p.Glu26398=) c.79053G>A (p.Glu26351=) c.105096G>A (p.Glu35032=) c.100494G>A (p.Glu33498=) c.100491G>A (p.Glu33497=) c.97533G>A (p.Glu32511=) c.79149G>A (p.Glu26383=) c.100644G>A (p.Glu33548=) c.100641G>A (p.Glu33547=) c.100074G>A (p.Glu33358=) c.97416G>A (p.Glu32472=) c.97335G>A (p.Glu32445=) c.79098G>A (p.Glu26366=) c.68952G>A (p.Glu22984=) | dbSNP ExAC |
2 | g.178530413T>A | CA349406632 | TTN,TTN-AS1 | c.98498A>T (p.Glu32833Val) c.79583A>T (p.Glu26528Val) c.79382A>T (p.Glu26461Val) c.79007A>T (p.Glu26336Val) c.106202A>T (p.Glu35401Val) c.101279A>T (p.Glu33760Val) n.446+6777T>A n.220-5319T>A c.105299A>T (p.Glu35100Val) c.79193A>T (p.Glu26398Val) c.79052A>T (p.Glu26351Val) c.105095A>T (p.Glu35032Val) c.100493A>T (p.Glu33498Val) c.100490A>T (p.Glu33497Val) c.97532A>T (p.Glu32511Val) c.79148A>T (p.Glu26383Val) c.100643A>T (p.Glu33548Val) c.100640A>T (p.Glu33547Val) c.100073A>T (p.Glu33358Val) c.97415A>T (p.Glu32472Val) c.97334A>T (p.Glu32445Val) c.79097A>T (p.Glu26366Val) c.68951A>T (p.Glu22984Val) | |
2 | g.178530413T>C | CA349406634 | TTN,TTN-AS1 | c.98498A>G (p.Glu32833Gly) c.79583A>G (p.Glu26528Gly) c.79382A>G (p.Glu26461Gly) c.79007A>G (p.Glu26336Gly) c.106202A>G (p.Glu35401Gly) c.101279A>G (p.Glu33760Gly) n.446+6777T>C n.220-5319T>C c.105299A>G (p.Glu35100Gly) c.79193A>G (p.Glu26398Gly) c.79052A>G (p.Glu26351Gly) c.105095A>G (p.Glu35032Gly) c.100493A>G (p.Glu33498Gly) c.100490A>G (p.Glu33497Gly) c.97532A>G (p.Glu32511Gly) c.79148A>G (p.Glu26383Gly) c.100643A>G (p.Glu33548Gly) c.100640A>G (p.Glu33547Gly) c.100073A>G (p.Glu33358Gly) c.97415A>G (p.Glu32472Gly) c.97334A>G (p.Glu32445Gly) c.79097A>G (p.Glu26366Gly) c.68951A>G (p.Glu22984Gly) | dbSNP |
2 | g.178530413T>G | CA349406636 | TTN,TTN-AS1 | c.98498A>C (p.Glu32833Ala) c.79583A>C (p.Glu26528Ala) c.79382A>C (p.Glu26461Ala) c.79007A>C (p.Glu26336Ala) c.106202A>C (p.Glu35401Ala) c.101279A>C (p.Glu33760Ala) n.446+6777T>G n.220-5319T>G c.105299A>C (p.Glu35100Ala) c.79193A>C (p.Glu26398Ala) c.79052A>C (p.Glu26351Ala) c.105095A>C (p.Glu35032Ala) c.100493A>C (p.Glu33498Ala) c.100490A>C (p.Glu33497Ala) c.97532A>C (p.Glu32511Ala) c.79148A>C (p.Glu26383Ala) c.100643A>C (p.Glu33548Ala) c.100640A>C (p.Glu33547Ala) c.100073A>C (p.Glu33358Ala) c.97415A>C (p.Glu32472Ala) c.97334A>C (p.Glu32445Ala) c.79097A>C (p.Glu26366Ala) c.68951A>C (p.Glu22984Ala) | gnomAD v4 |
2 | g.178530413T= | CA1310514609 | TTN,TTN-AS1 | c.98498A= (p.Glu32833=) c.79583A= (p.Glu26528=) c.79382A= (p.Glu26461=) c.79007A= (p.Glu26336=) c.106202A= (p.Glu35401=) c.101279A= (p.Glu33760=) n.446+6777T= n.220-5319T= c.105299A= (p.Glu35100=) c.79193A= (p.Glu26398=) c.79052A= (p.Glu26351=) c.105095A= (p.Glu35032=) c.100493A= (p.Glu33498=) c.100490A= (p.Glu33497=) c.97532A= (p.Glu32511=) c.79148A= (p.Glu26383=) c.100643A= (p.Glu33548=) c.100640A= (p.Glu33547=) c.100073A= (p.Glu33358=) c.97415A= (p.Glu32472=) c.97334A= (p.Glu32445=) c.79097A= (p.Glu26366=) c.68951A= (p.Glu22984=) | |
2 | g.178530414C>A | CA349406639 | TTN,TTN-AS1 | c.98497G>T (p.Glu32833Ter) c.79582G>T (p.Glu26528Ter) c.79381G>T (p.Glu26461Ter) c.79006G>T (p.Glu26336Ter) c.106201G>T (p.Glu35401Ter) c.101278G>T (p.Glu33760Ter) n.446+6778C>A n.220-5318C>A c.105298G>T (p.Glu35100Ter) c.79192G>T (p.Glu26398Ter) c.79051G>T (p.Glu26351Ter) c.105094G>T (p.Glu35032Ter) c.100492G>T (p.Glu33498Ter) c.100489G>T (p.Glu33497Ter) c.97531G>T (p.Glu32511Ter) c.79147G>T (p.Glu26383Ter) c.100642G>T (p.Glu33548Ter) c.100639G>T (p.Glu33547Ter) c.100072G>T (p.Glu33358Ter) c.97414G>T (p.Glu32472Ter) c.97333G>T (p.Glu32445Ter) c.79096G>T (p.Glu26366Ter) c.68950G>T (p.Glu22984Ter) | |
2 | g.178530414C>G | CA349406641 | TTN,TTN-AS1 | c.98497G>C (p.Glu32833Gln) c.79582G>C (p.Glu26528Gln) c.79381G>C (p.Glu26461Gln) c.79006G>C (p.Glu26336Gln) c.106201G>C (p.Glu35401Gln) c.101278G>C (p.Glu33760Gln) n.446+6778C>G n.220-5318C>G c.105298G>C (p.Glu35100Gln) c.79192G>C (p.Glu26398Gln) c.79051G>C (p.Glu26351Gln) c.105094G>C (p.Glu35032Gln) c.100492G>C (p.Glu33498Gln) c.100489G>C (p.Glu33497Gln) c.97531G>C (p.Glu32511Gln) c.79147G>C (p.Glu26383Gln) c.100642G>C (p.Glu33548Gln) c.100639G>C (p.Glu33547Gln) c.100072G>C (p.Glu33358Gln) c.97414G>C (p.Glu32472Gln) c.97333G>C (p.Glu32445Gln) c.79096G>C (p.Glu26366Gln) c.68950G>C (p.Glu22984Gln) | |
2 | g.178530414C>T | CA349406643 | TTN,TTN-AS1 | c.98497G>A (p.Glu32833Lys) c.79582G>A (p.Glu26528Lys) c.79381G>A (p.Glu26461Lys) c.79006G>A (p.Glu26336Lys) c.106201G>A (p.Glu35401Lys) c.101278G>A (p.Glu33760Lys) n.446+6778C>T n.220-5318C>T c.105298G>A (p.Glu35100Lys) c.79192G>A (p.Glu26398Lys) c.79051G>A (p.Glu26351Lys) c.105094G>A (p.Glu35032Lys) c.100492G>A (p.Glu33498Lys) c.100489G>A (p.Glu33497Lys) c.97531G>A (p.Glu32511Lys) c.79147G>A (p.Glu26383Lys) c.100642G>A (p.Glu33548Lys) c.100639G>A (p.Glu33547Lys) c.100072G>A (p.Glu33358Lys) c.97414G>A (p.Glu32472Lys) c.97333G>A (p.Glu32445Lys) c.79096G>A (p.Glu26366Lys) c.68950G>A (p.Glu22984Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530415del | CA2662125758 | TTN,TTN-AS1 | c.98496del (p.Glu32833SerfsTer4) c.79581del (p.Glu26528SerfsTer4) c.79380del (p.Glu26461SerfsTer4) c.79005del (p.Glu26336SerfsTer4) c.106200del (p.Glu35401SerfsTer4) c.101277del (p.Glu33760SerfsTer4) n.446+6779del n.220-5317del c.105297del (p.Glu35100SerfsTer4) c.79191del (p.Glu26398SerfsTer4) c.79050del (p.Glu26351SerfsTer4) c.105093del (p.Glu35032SerfsTer4) c.100491del (p.Glu33498SerfsTer4) c.100488del (p.Glu33497SerfsTer4) c.97530del (p.Glu32511SerfsTer4) c.79146del (p.Glu26383SerfsTer4) c.100641del (p.Glu33548SerfsTer4) c.100638del (p.Glu33547SerfsTer4) c.100071del (p.Glu33358SerfsTer4) c.97413del (p.Glu32472SerfsTer4) c.97332del (p.Glu32445SerfsTer4) c.79095del (p.Glu26366SerfsTer4) c.68949del (p.Glu22984SerfsTer4) | gnomAD v4 |
2 | g.178530415A= | CA1310514611 | TTN,TTN-AS1 | c.98496T= (p.Thr32832=) c.79581T= (p.Thr26527=) c.79380T= (p.Thr26460=) c.79005T= (p.Thr26335=) c.106200T= (p.Thr35400=) c.101277T= (p.Thr33759=) n.446+6779A= n.220-5317A= c.105297T= (p.Thr35099=) c.79191T= (p.Thr26397=) c.79050T= (p.Thr26350=) c.105093T= (p.Thr35031=) c.100491T= (p.Thr33497=) c.100488T= (p.Thr33496=) c.97530T= (p.Thr32510=) c.79146T= (p.Thr26382=) c.100641T= (p.Thr33547=) c.100638T= (p.Thr33546=) c.100071T= (p.Thr33357=) c.97413T= (p.Thr32471=) c.97332T= (p.Thr32444=) c.79095T= (p.Thr26365=) c.68949T= (p.Thr22983=) | |
2 | g.178530415A>C | CA430235311 | TTN,TTN-AS1 | c.98496T>G (p.Thr32832=) c.79581T>G (p.Thr26527=) c.79380T>G (p.Thr26460=) c.79005T>G (p.Thr26335=) c.106200T>G (p.Thr35400=) c.101277T>G (p.Thr33759=) n.446+6779A>C n.220-5317A>C c.105297T>G (p.Thr35099=) c.79191T>G (p.Thr26397=) c.79050T>G (p.Thr26350=) c.105093T>G (p.Thr35031=) c.100491T>G (p.Thr33497=) c.100488T>G (p.Thr33496=) c.97530T>G (p.Thr32510=) c.79146T>G (p.Thr26382=) c.100641T>G (p.Thr33547=) c.100638T>G (p.Thr33546=) c.100071T>G (p.Thr33357=) c.97413T>G (p.Thr32471=) c.97332T>G (p.Thr32444=) c.79095T>G (p.Thr26365=) c.68949T>G (p.Thr22983=) | |
2 | g.178530415A>G | CA1985148 | TTN,TTN-AS1 | c.98496T>C (p.Thr32832=) c.79581T>C (p.Thr26527=) c.79380T>C (p.Thr26460=) c.79005T>C (p.Thr26335=) c.106200T>C (p.Thr35400=) c.101277T>C (p.Thr33759=) n.446+6779A>G n.220-5317A>G c.105297T>C (p.Thr35099=) c.79191T>C (p.Thr26397=) c.79050T>C (p.Thr26350=) c.105093T>C (p.Thr35031=) c.100491T>C (p.Thr33497=) c.100488T>C (p.Thr33496=) c.97530T>C (p.Thr32510=) c.79146T>C (p.Thr26382=) c.100641T>C (p.Thr33547=) c.100638T>C (p.Thr33546=) c.100071T>C (p.Thr33357=) c.97413T>C (p.Thr32471=) c.97332T>C (p.Thr32444=) c.79095T>C (p.Thr26365=) c.68949T>C (p.Thr22983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530415A>T | CA430235312 | TTN,TTN-AS1 | c.98496T>A (p.Thr32832=) c.79581T>A (p.Thr26527=) c.79380T>A (p.Thr26460=) c.79005T>A (p.Thr26335=) c.106200T>A (p.Thr35400=) c.101277T>A (p.Thr33759=) n.446+6779A>T n.220-5317A>T c.105297T>A (p.Thr35099=) c.79191T>A (p.Thr26397=) c.79050T>A (p.Thr26350=) c.105093T>A (p.Thr35031=) c.100491T>A (p.Thr33497=) c.100488T>A (p.Thr33496=) c.97530T>A (p.Thr32510=) c.79146T>A (p.Thr26382=) c.100641T>A (p.Thr33547=) c.100638T>A (p.Thr33546=) c.100071T>A (p.Thr33357=) c.97413T>A (p.Thr32471=) c.97332T>A (p.Thr32444=) c.79095T>A (p.Thr26365=) c.68949T>A (p.Thr22983=) | |
2 | g.178530416G>A | CA349406647 | TTN,TTN-AS1 | c.98495C>T (p.Thr32832Ile) c.79580C>T (p.Thr26527Ile) c.79379C>T (p.Thr26460Ile) c.79004C>T (p.Thr26335Ile) c.106199C>T (p.Thr35400Ile) c.101276C>T (p.Thr33759Ile) n.446+6780G>A n.220-5316G>A c.105296C>T (p.Thr35099Ile) c.79190C>T (p.Thr26397Ile) c.79049C>T (p.Thr26350Ile) c.105092C>T (p.Thr35031Ile) c.100490C>T (p.Thr33497Ile) c.100487C>T (p.Thr33496Ile) c.97529C>T (p.Thr32510Ile) c.79145C>T (p.Thr26382Ile) c.100640C>T (p.Thr33547Ile) c.100637C>T (p.Thr33546Ile) c.100070C>T (p.Thr33357Ile) c.97412C>T (p.Thr32471Ile) c.97331C>T (p.Thr32444Ile) c.79094C>T (p.Thr26365Ile) c.68948C>T (p.Thr22983Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530416G>C | CA349406649 | TTN,TTN-AS1 | c.98495C>G (p.Thr32832Ser) c.79580C>G (p.Thr26527Ser) c.79379C>G (p.Thr26460Ser) c.79004C>G (p.Thr26335Ser) c.106199C>G (p.Thr35400Ser) c.101276C>G (p.Thr33759Ser) n.446+6780G>C n.220-5316G>C c.105296C>G (p.Thr35099Ser) c.79190C>G (p.Thr26397Ser) c.79049C>G (p.Thr26350Ser) c.105092C>G (p.Thr35031Ser) c.100490C>G (p.Thr33497Ser) c.100487C>G (p.Thr33496Ser) c.97529C>G (p.Thr32510Ser) c.79145C>G (p.Thr26382Ser) c.100640C>G (p.Thr33547Ser) c.100637C>G (p.Thr33546Ser) c.100070C>G (p.Thr33357Ser) c.97412C>G (p.Thr32471Ser) c.97331C>G (p.Thr32444Ser) c.79094C>G (p.Thr26365Ser) c.68948C>G (p.Thr22983Ser) | ClinVar dbSNP |
2 | g.178530416G= | CA1310514614 | TTN,TTN-AS1 | c.98495C= (p.Thr32832=) c.79580C= (p.Thr26527=) c.79379C= (p.Thr26460=) c.79004C= (p.Thr26335=) c.106199C= (p.Thr35400=) c.101276C= (p.Thr33759=) n.446+6780G= n.220-5316G= c.105296C= (p.Thr35099=) c.79190C= (p.Thr26397=) c.79049C= (p.Thr26350=) c.105092C= (p.Thr35031=) c.100490C= (p.Thr33497=) c.100487C= (p.Thr33496=) c.97529C= (p.Thr32510=) c.79145C= (p.Thr26382=) c.100640C= (p.Thr33547=) c.100637C= (p.Thr33546=) c.100070C= (p.Thr33357=) c.97412C= (p.Thr32471=) c.97331C= (p.Thr32444=) c.79094C= (p.Thr26365=) c.68948C= (p.Thr22983=) | |
2 | g.178530416G>T | CA60953350 | TTN,TTN-AS1 | c.98495C>A (p.Thr32832Asn) c.79580C>A (p.Thr26527Asn) c.79379C>A (p.Thr26460Asn) c.79004C>A (p.Thr26335Asn) c.106199C>A (p.Thr35400Asn) c.101276C>A (p.Thr33759Asn) n.446+6780G>T n.220-5316G>T c.105296C>A (p.Thr35099Asn) c.79190C>A (p.Thr26397Asn) c.79049C>A (p.Thr26350Asn) c.105092C>A (p.Thr35031Asn) c.100490C>A (p.Thr33497Asn) c.100487C>A (p.Thr33496Asn) c.97529C>A (p.Thr32510Asn) c.79145C>A (p.Thr26382Asn) c.100640C>A (p.Thr33547Asn) c.100637C>A (p.Thr33546Asn) c.100070C>A (p.Thr33357Asn) c.97412C>A (p.Thr32471Asn) c.97331C>A (p.Thr32444Asn) c.79094C>A (p.Thr26365Asn) c.68948C>A (p.Thr22983Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530417T>A | CA349406656 | TTN,TTN-AS1 | c.98494A>T (p.Thr32832Ser) c.79579A>T (p.Thr26527Ser) c.79378A>T (p.Thr26460Ser) c.79003A>T (p.Thr26335Ser) c.106198A>T (p.Thr35400Ser) c.101275A>T (p.Thr33759Ser) n.446+6781T>A n.220-5315T>A c.105295A>T (p.Thr35099Ser) c.79189A>T (p.Thr26397Ser) c.79048A>T (p.Thr26350Ser) c.105091A>T (p.Thr35031Ser) c.100489A>T (p.Thr33497Ser) c.100486A>T (p.Thr33496Ser) c.97528A>T (p.Thr32510Ser) c.79144A>T (p.Thr26382Ser) c.100639A>T (p.Thr33547Ser) c.100636A>T (p.Thr33546Ser) c.100069A>T (p.Thr33357Ser) c.97411A>T (p.Thr32471Ser) c.97330A>T (p.Thr32444Ser) c.79093A>T (p.Thr26365Ser) c.68947A>T (p.Thr22983Ser) | |
2 | g.178530417T>C | CA349406654 | TTN,TTN-AS1 | c.98494A>G (p.Thr32832Ala) c.79579A>G (p.Thr26527Ala) c.79378A>G (p.Thr26460Ala) c.79003A>G (p.Thr26335Ala) c.106198A>G (p.Thr35400Ala) c.101275A>G (p.Thr33759Ala) n.446+6781T>C n.220-5315T>C c.105295A>G (p.Thr35099Ala) c.79189A>G (p.Thr26397Ala) c.79048A>G (p.Thr26350Ala) c.105091A>G (p.Thr35031Ala) c.100489A>G (p.Thr33497Ala) c.100486A>G (p.Thr33496Ala) c.97528A>G (p.Thr32510Ala) c.79144A>G (p.Thr26382Ala) c.100639A>G (p.Thr33547Ala) c.100636A>G (p.Thr33546Ala) c.100069A>G (p.Thr33357Ala) c.97411A>G (p.Thr32471Ala) c.97330A>G (p.Thr32444Ala) c.79093A>G (p.Thr26365Ala) c.68947A>G (p.Thr22983Ala) | |
2 | g.178530417T>G | CA349406653 | TTN,TTN-AS1 | c.98494A>C (p.Thr32832Pro) c.79579A>C (p.Thr26527Pro) c.79378A>C (p.Thr26460Pro) c.79003A>C (p.Thr26335Pro) c.106198A>C (p.Thr35400Pro) c.101275A>C (p.Thr33759Pro) n.446+6781T>G n.220-5315T>G c.105295A>C (p.Thr35099Pro) c.79189A>C (p.Thr26397Pro) c.79048A>C (p.Thr26350Pro) c.105091A>C (p.Thr35031Pro) c.100489A>C (p.Thr33497Pro) c.100486A>C (p.Thr33496Pro) c.97528A>C (p.Thr32510Pro) c.79144A>C (p.Thr26382Pro) c.100639A>C (p.Thr33547Pro) c.100636A>C (p.Thr33546Pro) c.100069A>C (p.Thr33357Pro) c.97411A>C (p.Thr32471Pro) c.97330A>C (p.Thr32444Pro) c.79093A>C (p.Thr26365Pro) c.68947A>C (p.Thr22983Pro) | |
2 | g.178530418G>A | CA430235316 | TTN,TTN-AS1 | c.98493C>T (p.Thr32831=) c.79578C>T (p.Thr26526=) c.79377C>T (p.Thr26459=) c.79002C>T (p.Thr26334=) c.106197C>T (p.Thr35399=) c.101274C>T (p.Thr33758=) n.446+6782G>A n.220-5314G>A c.105294C>T (p.Thr35098=) c.79188C>T (p.Thr26396=) c.79047C>T (p.Thr26349=) c.105090C>T (p.Thr35030=) c.100488C>T (p.Thr33496=) c.100485C>T (p.Thr33495=) c.97527C>T (p.Thr32509=) c.79143C>T (p.Thr26381=) c.100638C>T (p.Thr33546=) c.100635C>T (p.Thr33545=) c.100068C>T (p.Thr33356=) c.97410C>T (p.Thr32470=) c.97329C>T (p.Thr32443=) c.79092C>T (p.Thr26364=) c.68946C>T (p.Thr22982=) | |
2 | g.178530418G>C | CA430235317 | TTN,TTN-AS1 | c.98493C>G (p.Thr32831=) c.79578C>G (p.Thr26526=) c.79377C>G (p.Thr26459=) c.79002C>G (p.Thr26334=) c.106197C>G (p.Thr35399=) c.101274C>G (p.Thr33758=) n.446+6782G>C n.220-5314G>C c.105294C>G (p.Thr35098=) c.79188C>G (p.Thr26396=) c.79047C>G (p.Thr26349=) c.105090C>G (p.Thr35030=) c.100488C>G (p.Thr33496=) c.100485C>G (p.Thr33495=) c.97527C>G (p.Thr32509=) c.79143C>G (p.Thr26381=) c.100638C>G (p.Thr33546=) c.100635C>G (p.Thr33545=) c.100068C>G (p.Thr33356=) c.97410C>G (p.Thr32470=) c.97329C>G (p.Thr32443=) c.79092C>G (p.Thr26364=) c.68946C>G (p.Thr22982=) | |
2 | g.178530418G>T | CA430235321 | TTN,TTN-AS1 | c.98493C>A (p.Thr32831=) c.79578C>A (p.Thr26526=) c.79377C>A (p.Thr26459=) c.79002C>A (p.Thr26334=) c.106197C>A (p.Thr35399=) c.101274C>A (p.Thr33758=) n.446+6782G>T n.220-5314G>T c.105294C>A (p.Thr35098=) c.79188C>A (p.Thr26396=) c.79047C>A (p.Thr26349=) c.105090C>A (p.Thr35030=) c.100488C>A (p.Thr33496=) c.100485C>A (p.Thr33495=) c.97527C>A (p.Thr32509=) c.79143C>A (p.Thr26381=) c.100638C>A (p.Thr33546=) c.100635C>A (p.Thr33545=) c.100068C>A (p.Thr33356=) c.97410C>A (p.Thr32470=) c.97329C>A (p.Thr32443=) c.79092C>A (p.Thr26364=) c.68946C>A (p.Thr22982=) | |
2 | g.178530418_178530420delinsGGT | CA1310514616 | TTN,TTN-AS1 | c.98491_98493delinsACC (p.Thr32831=) c.79576_79578delinsACC (p.Thr26526=) c.79375_79377delinsACC (p.Thr26459=) c.79000_79002delinsACC (p.Thr26334=) c.106195_106197delinsACC (p.Thr35399=) c.101272_101274delinsACC (p.Thr33758=) n.446+6782_446+6784delinsGGT n.220-5314_220-5312delinsGGT c.105292_105294delinsACC (p.Thr35098=) c.79186_79188delinsACC (p.Thr26396=) c.79045_79047delinsACC (p.Thr26349=) c.105088_105090delinsACC (p.Thr35030=) c.100486_100488delinsACC (p.Thr33496=) c.100483_100485delinsACC (p.Thr33495=) c.97525_97527delinsACC (p.Thr32509=) c.79141_79143delinsACC (p.Thr26381=) c.100636_100638delinsACC (p.Thr33546=) c.100633_100635delinsACC (p.Thr33545=) c.100066_100068delinsACC (p.Thr33356=) c.97408_97410delinsACC (p.Thr32470=) c.97327_97329delinsACC (p.Thr32443=) c.79090_79092delinsACC (p.Thr26364=) c.68944_68946delinsACC (p.Thr22982=) | |
2 | g.178530419G>A | CA349406659 | TTN,TTN-AS1 | c.98492C>T (p.Thr32831Ile) c.79577C>T (p.Thr26526Ile) c.79376C>T (p.Thr26459Ile) c.79001C>T (p.Thr26334Ile) c.106196C>T (p.Thr35399Ile) c.101273C>T (p.Thr33758Ile) n.446+6783G>A n.220-5313G>A c.105293C>T (p.Thr35098Ile) c.79187C>T (p.Thr26396Ile) c.79046C>T (p.Thr26349Ile) c.105089C>T (p.Thr35030Ile) c.100487C>T (p.Thr33496Ile) c.100484C>T (p.Thr33495Ile) c.97526C>T (p.Thr32509Ile) c.79142C>T (p.Thr26381Ile) c.100637C>T (p.Thr33546Ile) c.100634C>T (p.Thr33545Ile) c.100067C>T (p.Thr33356Ile) c.97409C>T (p.Thr32470Ile) c.97328C>T (p.Thr32443Ile) c.79091C>T (p.Thr26364Ile) c.68945C>T (p.Thr22982Ile) | |
2 | g.178530419G>C | CA349406662 | TTN,TTN-AS1 | c.98492C>G (p.Thr32831Ser) c.79577C>G (p.Thr26526Ser) c.79376C>G (p.Thr26459Ser) c.79001C>G (p.Thr26334Ser) c.106196C>G (p.Thr35399Ser) c.101273C>G (p.Thr33758Ser) n.446+6783G>C n.220-5313G>C c.105293C>G (p.Thr35098Ser) c.79187C>G (p.Thr26396Ser) c.79046C>G (p.Thr26349Ser) c.105089C>G (p.Thr35030Ser) c.100487C>G (p.Thr33496Ser) c.100484C>G (p.Thr33495Ser) c.97526C>G (p.Thr32509Ser) c.79142C>G (p.Thr26381Ser) c.100637C>G (p.Thr33546Ser) c.100634C>G (p.Thr33545Ser) c.100067C>G (p.Thr33356Ser) c.97409C>G (p.Thr32470Ser) c.97328C>G (p.Thr32443Ser) c.79091C>G (p.Thr26364Ser) c.68945C>G (p.Thr22982Ser) | |
2 | g.178530419G>T | CA349406660 | TTN,TTN-AS1 | c.98492C>A (p.Thr32831Asn) c.79577C>A (p.Thr26526Asn) c.79376C>A (p.Thr26459Asn) c.79001C>A (p.Thr26334Asn) c.106196C>A (p.Thr35399Asn) c.101273C>A (p.Thr33758Asn) n.446+6783G>T n.220-5313G>T c.105293C>A (p.Thr35098Asn) c.79187C>A (p.Thr26396Asn) c.79046C>A (p.Thr26349Asn) c.105089C>A (p.Thr35030Asn) c.100487C>A (p.Thr33496Asn) c.100484C>A (p.Thr33495Asn) c.97526C>A (p.Thr32509Asn) c.79142C>A (p.Thr26381Asn) c.100637C>A (p.Thr33546Asn) c.100634C>A (p.Thr33545Asn) c.100067C>A (p.Thr33356Asn) c.97409C>A (p.Thr32470Asn) c.97328C>A (p.Thr32443Asn) c.79091C>A (p.Thr26364Asn) c.68945C>A (p.Thr22982Asn) | |
2 | g.178530419_178530420del | CA1310514618 | TTN,TTN-AS1 | c.98491_98492del (p.Thr32831HisfsTer2) c.79576_79577del (p.Thr26526HisfsTer2) c.79375_79376del (p.Thr26459HisfsTer2) c.79000_79001del (p.Thr26334HisfsTer2) c.106195_106196del (p.Thr35399HisfsTer2) c.101272_101273del (p.Thr33758HisfsTer2) n.446+6783_446+6784del n.220-5313_220-5312del c.105292_105293del (p.Thr35098HisfsTer2) c.79186_79187del (p.Thr26396HisfsTer2) c.79045_79046del (p.Thr26349HisfsTer2) c.105088_105089del (p.Thr35030HisfsTer2) c.100486_100487del (p.Thr33496HisfsTer2) c.100483_100484del (p.Thr33495HisfsTer2) c.97525_97526del (p.Thr32509HisfsTer2) c.79141_79142del (p.Thr26381HisfsTer2) c.100636_100637del (p.Thr33546HisfsTer2) c.100633_100634del (p.Thr33545HisfsTer2) c.100066_100067del (p.Thr33356HisfsTer2) c.97408_97409del (p.Thr32470HisfsTer2) c.97327_97328del (p.Thr32443HisfsTer2) c.79090_79091del (p.Thr26364HisfsTer2) c.68944_68945del (p.Thr22982HisfsTer2) | dbSNP |