Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530033G>A | CA430093824 | TTN,TTN-AS1 | c.98754C>T (p.Asp32918=) c.79839C>T (p.Asp26613=) c.79638C>T (p.Asp26546=) c.79263C>T (p.Asp26421=) c.106458C>T (p.Asp35486=) c.101535C>T (p.Asp33845=) n.446+6397G>A n.220-5699G>A c.105555C>T (p.Asp35185=) c.79449C>T (p.Asp26483=) c.79308C>T (p.Asp26436=) c.105351C>T (p.Asp35117=) c.100749C>T (p.Asp33583=) c.100746C>T (p.Asp33582=) c.97788C>T (p.Asp32596=) c.79404C>T (p.Asp26468=) c.100899C>T (p.Asp33633=) c.100896C>T (p.Asp33632=) c.100329C>T (p.Asp33443=) c.97671C>T (p.Asp32557=) c.97590C>T (p.Asp32530=) c.79353C>T (p.Asp26451=) c.69207C>T (p.Asp23069=) | |
2 | g.178530033G>C | CA349405194 | TTN,TTN-AS1 | c.98754C>G (p.Asp32918Glu) c.79839C>G (p.Asp26613Glu) c.79638C>G (p.Asp26546Glu) c.79263C>G (p.Asp26421Glu) c.106458C>G (p.Asp35486Glu) c.101535C>G (p.Asp33845Glu) n.446+6397G>C n.220-5699G>C c.105555C>G (p.Asp35185Glu) c.79449C>G (p.Asp26483Glu) c.79308C>G (p.Asp26436Glu) c.105351C>G (p.Asp35117Glu) c.100749C>G (p.Asp33583Glu) c.100746C>G (p.Asp33582Glu) c.97788C>G (p.Asp32596Glu) c.79404C>G (p.Asp26468Glu) c.100899C>G (p.Asp33633Glu) c.100896C>G (p.Asp33632Glu) c.100329C>G (p.Asp33443Glu) c.97671C>G (p.Asp32557Glu) c.97590C>G (p.Asp32530Glu) c.79353C>G (p.Asp26451Glu) c.69207C>G (p.Asp23069Glu) | gnomAD v4 |
2 | g.178530033G>T | CA349405196 | TTN,TTN-AS1 | c.98754C>A (p.Asp32918Glu) c.79839C>A (p.Asp26613Glu) c.79638C>A (p.Asp26546Glu) c.79263C>A (p.Asp26421Glu) c.106458C>A (p.Asp35486Glu) c.101535C>A (p.Asp33845Glu) n.446+6397G>T n.220-5699G>T c.105555C>A (p.Asp35185Glu) c.79449C>A (p.Asp26483Glu) c.79308C>A (p.Asp26436Glu) c.105351C>A (p.Asp35117Glu) c.100749C>A (p.Asp33583Glu) c.100746C>A (p.Asp33582Glu) c.97788C>A (p.Asp32596Glu) c.79404C>A (p.Asp26468Glu) c.100899C>A (p.Asp33633Glu) c.100896C>A (p.Asp33632Glu) c.100329C>A (p.Asp33443Glu) c.97671C>A (p.Asp32557Glu) c.97590C>A (p.Asp32530Glu) c.79353C>A (p.Asp26451Glu) c.69207C>A (p.Asp23069Glu) | |
2 | g.178530034T>A | CA349405198 | TTN,TTN-AS1 | c.98753A>T (p.Asp32918Val) c.79838A>T (p.Asp26613Val) c.79637A>T (p.Asp26546Val) c.79262A>T (p.Asp26421Val) c.106457A>T (p.Asp35486Val) c.101534A>T (p.Asp33845Val) n.446+6398T>A n.220-5698T>A c.105554A>T (p.Asp35185Val) c.79448A>T (p.Asp26483Val) c.79307A>T (p.Asp26436Val) c.105350A>T (p.Asp35117Val) c.100748A>T (p.Asp33583Val) c.100745A>T (p.Asp33582Val) c.97787A>T (p.Asp32596Val) c.79403A>T (p.Asp26468Val) c.100898A>T (p.Asp33633Val) c.100895A>T (p.Asp33632Val) c.100328A>T (p.Asp33443Val) c.97670A>T (p.Asp32557Val) c.97589A>T (p.Asp32530Val) c.79352A>T (p.Asp26451Val) c.69206A>T (p.Asp23069Val) | |
2 | g.178530034T>C | CA349405199 | TTN,TTN-AS1 | c.98753A>G (p.Asp32918Gly) c.79838A>G (p.Asp26613Gly) c.79637A>G (p.Asp26546Gly) c.79262A>G (p.Asp26421Gly) c.106457A>G (p.Asp35486Gly) c.101534A>G (p.Asp33845Gly) n.446+6398T>C n.220-5698T>C c.105554A>G (p.Asp35185Gly) c.79448A>G (p.Asp26483Gly) c.79307A>G (p.Asp26436Gly) c.105350A>G (p.Asp35117Gly) c.100748A>G (p.Asp33583Gly) c.100745A>G (p.Asp33582Gly) c.97787A>G (p.Asp32596Gly) c.79403A>G (p.Asp26468Gly) c.100898A>G (p.Asp33633Gly) c.100895A>G (p.Asp33632Gly) c.100328A>G (p.Asp33443Gly) c.97670A>G (p.Asp32557Gly) c.97589A>G (p.Asp32530Gly) c.79352A>G (p.Asp26451Gly) c.69206A>G (p.Asp23069Gly) | |
2 | g.178530034T>G | CA349405201 | TTN,TTN-AS1 | c.98753A>C (p.Asp32918Ala) c.79838A>C (p.Asp26613Ala) c.79637A>C (p.Asp26546Ala) c.79262A>C (p.Asp26421Ala) c.106457A>C (p.Asp35486Ala) c.101534A>C (p.Asp33845Ala) n.446+6398T>G n.220-5698T>G c.105554A>C (p.Asp35185Ala) c.79448A>C (p.Asp26483Ala) c.79307A>C (p.Asp26436Ala) c.105350A>C (p.Asp35117Ala) c.100748A>C (p.Asp33583Ala) c.100745A>C (p.Asp33582Ala) c.97787A>C (p.Asp32596Ala) c.79403A>C (p.Asp26468Ala) c.100898A>C (p.Asp33633Ala) c.100895A>C (p.Asp33632Ala) c.100328A>C (p.Asp33443Ala) c.97670A>C (p.Asp32557Ala) c.97589A>C (p.Asp32530Ala) c.79352A>C (p.Asp26451Ala) c.69206A>C (p.Asp23069Ala) | |
2 | g.178530035C>A | CA349405203 | TTN,TTN-AS1 | c.98752G>T (p.Asp32918Tyr) c.79837G>T (p.Asp26613Tyr) c.79636G>T (p.Asp26546Tyr) c.79261G>T (p.Asp26421Tyr) c.106456G>T (p.Asp35486Tyr) c.101533G>T (p.Asp33845Tyr) n.446+6399C>A n.220-5697C>A c.105553G>T (p.Asp35185Tyr) c.79447G>T (p.Asp26483Tyr) c.79306G>T (p.Asp26436Tyr) c.105349G>T (p.Asp35117Tyr) c.100747G>T (p.Asp33583Tyr) c.100744G>T (p.Asp33582Tyr) c.97786G>T (p.Asp32596Tyr) c.79402G>T (p.Asp26468Tyr) c.100897G>T (p.Asp33633Tyr) c.100894G>T (p.Asp33632Tyr) c.100327G>T (p.Asp33443Tyr) c.97669G>T (p.Asp32557Tyr) c.97588G>T (p.Asp32530Tyr) c.79351G>T (p.Asp26451Tyr) c.69205G>T (p.Asp23069Tyr) | |
2 | g.178530035C= | CA1310511364 | TTN,TTN-AS1 | c.98752G= (p.Asp32918=) c.79837G= (p.Asp26613=) c.79636G= (p.Asp26546=) c.79261G= (p.Asp26421=) c.106456G= (p.Asp35486=) c.101533G= (p.Asp33845=) n.446+6399C= n.220-5697C= c.105553G= (p.Asp35185=) c.79447G= (p.Asp26483=) c.79306G= (p.Asp26436=) c.105349G= (p.Asp35117=) c.100747G= (p.Asp33583=) c.100744G= (p.Asp33582=) c.97786G= (p.Asp32596=) c.79402G= (p.Asp26468=) c.100897G= (p.Asp33633=) c.100894G= (p.Asp33632=) c.100327G= (p.Asp33443=) c.97669G= (p.Asp32557=) c.97588G= (p.Asp32530=) c.79351G= (p.Asp26451=) c.69205G= (p.Asp23069=) | |
2 | g.178530035C>G | CA349405204 | TTN,TTN-AS1 | c.98752G>C (p.Asp32918His) c.79837G>C (p.Asp26613His) c.79636G>C (p.Asp26546His) c.79261G>C (p.Asp26421His) c.106456G>C (p.Asp35486His) c.101533G>C (p.Asp33845His) n.446+6399C>G n.220-5697C>G c.105553G>C (p.Asp35185His) c.79447G>C (p.Asp26483His) c.79306G>C (p.Asp26436His) c.105349G>C (p.Asp35117His) c.100747G>C (p.Asp33583His) c.100744G>C (p.Asp33582His) c.97786G>C (p.Asp32596His) c.79402G>C (p.Asp26468His) c.100897G>C (p.Asp33633His) c.100894G>C (p.Asp33632His) c.100327G>C (p.Asp33443His) c.97669G>C (p.Asp32557His) c.97588G>C (p.Asp32530His) c.79351G>C (p.Asp26451His) c.69205G>C (p.Asp23069His) | |
2 | g.178530035C>T | CA349405206 | TTN,TTN-AS1 | c.98752G>A (p.Asp32918Asn) c.79837G>A (p.Asp26613Asn) c.79636G>A (p.Asp26546Asn) c.79261G>A (p.Asp26421Asn) c.106456G>A (p.Asp35486Asn) c.101533G>A (p.Asp33845Asn) n.446+6399C>T n.220-5697C>T c.105553G>A (p.Asp35185Asn) c.79447G>A (p.Asp26483Asn) c.79306G>A (p.Asp26436Asn) c.105349G>A (p.Asp35117Asn) c.100747G>A (p.Asp33583Asn) c.100744G>A (p.Asp33582Asn) c.97786G>A (p.Asp32596Asn) c.79402G>A (p.Asp26468Asn) c.100897G>A (p.Asp33633Asn) c.100894G>A (p.Asp33632Asn) c.100327G>A (p.Asp33443Asn) c.97669G>A (p.Asp32557Asn) c.97588G>A (p.Asp32530Asn) c.79351G>A (p.Asp26451Asn) c.69205G>A (p.Asp23069Asn) | |
2 | g.178530036A>C | CA430093836 | TTN,TTN-AS1 | c.98751T>G (p.Ser32917=) c.79836T>G (p.Ser26612=) c.79635T>G (p.Ser26545=) c.79260T>G (p.Ser26420=) c.106455T>G (p.Ser35485=) c.101532T>G (p.Ser33844=) n.446+6400A>C n.220-5696A>C c.105552T>G (p.Ser35184=) c.79446T>G (p.Ser26482=) c.79305T>G (p.Ser26435=) c.105348T>G (p.Ser35116=) c.100746T>G (p.Ser33582=) c.100743T>G (p.Ser33581=) c.97785T>G (p.Ser32595=) c.79401T>G (p.Ser26467=) c.100896T>G (p.Ser33632=) c.100893T>G (p.Ser33631=) c.100326T>G (p.Ser33442=) c.97668T>G (p.Ser32556=) c.97587T>G (p.Ser32529=) c.79350T>G (p.Ser26450=) c.69204T>G (p.Ser23068=) | |
2 | g.178530036A>G | CA430093834 | TTN,TTN-AS1 | c.98751T>C (p.Ser32917=) c.79836T>C (p.Ser26612=) c.79635T>C (p.Ser26545=) c.79260T>C (p.Ser26420=) c.106455T>C (p.Ser35485=) c.101532T>C (p.Ser33844=) n.446+6400A>G n.220-5696A>G c.105552T>C (p.Ser35184=) c.79446T>C (p.Ser26482=) c.79305T>C (p.Ser26435=) c.105348T>C (p.Ser35116=) c.100746T>C (p.Ser33582=) c.100743T>C (p.Ser33581=) c.97785T>C (p.Ser32595=) c.79401T>C (p.Ser26467=) c.100896T>C (p.Ser33632=) c.100893T>C (p.Ser33631=) c.100326T>C (p.Ser33442=) c.97668T>C (p.Ser32556=) c.97587T>C (p.Ser32529=) c.79350T>C (p.Ser26450=) c.69204T>C (p.Ser23068=) | |
2 | g.178530036A>T | CA430093833 | TTN,TTN-AS1 | c.98751T>A (p.Ser32917=) c.79836T>A (p.Ser26612=) c.79635T>A (p.Ser26545=) c.79260T>A (p.Ser26420=) c.106455T>A (p.Ser35485=) c.101532T>A (p.Ser33844=) n.446+6400A>T n.220-5696A>T c.105552T>A (p.Ser35184=) c.79446T>A (p.Ser26482=) c.79305T>A (p.Ser26435=) c.105348T>A (p.Ser35116=) c.100746T>A (p.Ser33582=) c.100743T>A (p.Ser33581=) c.97785T>A (p.Ser32595=) c.79401T>A (p.Ser26467=) c.100896T>A (p.Ser33632=) c.100893T>A (p.Ser33631=) c.100326T>A (p.Ser33442=) c.97668T>A (p.Ser32556=) c.97587T>A (p.Ser32529=) c.79350T>A (p.Ser26450=) c.69204T>A (p.Ser23068=) | |
2 | g.178530037G>A | CA349405208 | TTN,TTN-AS1 | c.98750C>T (p.Ser32917Phe) c.79835C>T (p.Ser26612Phe) c.79634C>T (p.Ser26545Phe) c.79259C>T (p.Ser26420Phe) c.106454C>T (p.Ser35485Phe) c.101531C>T (p.Ser33844Phe) n.446+6401G>A n.220-5695G>A c.105551C>T (p.Ser35184Phe) c.79445C>T (p.Ser26482Phe) c.79304C>T (p.Ser26435Phe) c.105347C>T (p.Ser35116Phe) c.100745C>T (p.Ser33582Phe) c.100742C>T (p.Ser33581Phe) c.97784C>T (p.Ser32595Phe) c.79400C>T (p.Ser26467Phe) c.100895C>T (p.Ser33632Phe) c.100892C>T (p.Ser33631Phe) c.100325C>T (p.Ser33442Phe) c.97667C>T (p.Ser32556Phe) c.97586C>T (p.Ser32529Phe) c.79349C>T (p.Ser26450Phe) c.69203C>T (p.Ser23068Phe) | ClinVar |
2 | g.178530037G>C | CA349405209 | TTN,TTN-AS1 | c.98750C>G (p.Ser32917Cys) c.79835C>G (p.Ser26612Cys) c.79634C>G (p.Ser26545Cys) c.79259C>G (p.Ser26420Cys) c.106454C>G (p.Ser35485Cys) c.101531C>G (p.Ser33844Cys) n.446+6401G>C n.220-5695G>C c.105551C>G (p.Ser35184Cys) c.79445C>G (p.Ser26482Cys) c.79304C>G (p.Ser26435Cys) c.105347C>G (p.Ser35116Cys) c.100745C>G (p.Ser33582Cys) c.100742C>G (p.Ser33581Cys) c.97784C>G (p.Ser32595Cys) c.79400C>G (p.Ser26467Cys) c.100895C>G (p.Ser33632Cys) c.100892C>G (p.Ser33631Cys) c.100325C>G (p.Ser33442Cys) c.97667C>G (p.Ser32556Cys) c.97586C>G (p.Ser32529Cys) c.79349C>G (p.Ser26450Cys) c.69203C>G (p.Ser23068Cys) | |
2 | g.178530037G>T | CA349405211 | TTN,TTN-AS1 | c.98750C>A (p.Ser32917Tyr) c.79835C>A (p.Ser26612Tyr) c.79634C>A (p.Ser26545Tyr) c.79259C>A (p.Ser26420Tyr) c.106454C>A (p.Ser35485Tyr) c.101531C>A (p.Ser33844Tyr) n.446+6401G>T n.220-5695G>T c.105551C>A (p.Ser35184Tyr) c.79445C>A (p.Ser26482Tyr) c.79304C>A (p.Ser26435Tyr) c.105347C>A (p.Ser35116Tyr) c.100745C>A (p.Ser33582Tyr) c.100742C>A (p.Ser33581Tyr) c.97784C>A (p.Ser32595Tyr) c.79400C>A (p.Ser26467Tyr) c.100895C>A (p.Ser33632Tyr) c.100892C>A (p.Ser33631Tyr) c.100325C>A (p.Ser33442Tyr) c.97667C>A (p.Ser32556Tyr) c.97586C>A (p.Ser32529Tyr) c.79349C>A (p.Ser26450Tyr) c.69203C>A (p.Ser23068Tyr) | |
2 | g.178530038A>C | CA349405214 | TTN,TTN-AS1 | c.98749T>G (p.Ser32917Ala) c.79834T>G (p.Ser26612Ala) c.79633T>G (p.Ser26545Ala) c.79258T>G (p.Ser26420Ala) c.106453T>G (p.Ser35485Ala) c.101530T>G (p.Ser33844Ala) n.446+6402A>C n.220-5694A>C c.105550T>G (p.Ser35184Ala) c.79444T>G (p.Ser26482Ala) c.79303T>G (p.Ser26435Ala) c.105346T>G (p.Ser35116Ala) c.100744T>G (p.Ser33582Ala) c.100741T>G (p.Ser33581Ala) c.97783T>G (p.Ser32595Ala) c.79399T>G (p.Ser26467Ala) c.100894T>G (p.Ser33632Ala) c.100891T>G (p.Ser33631Ala) c.100324T>G (p.Ser33442Ala) c.97666T>G (p.Ser32556Ala) c.97585T>G (p.Ser32529Ala) c.79348T>G (p.Ser26450Ala) c.69202T>G (p.Ser23068Ala) | |
2 | g.178530038A>G | CA349405216 | TTN,TTN-AS1 | c.98749T>C (p.Ser32917Pro) c.79834T>C (p.Ser26612Pro) c.79633T>C (p.Ser26545Pro) c.79258T>C (p.Ser26420Pro) c.106453T>C (p.Ser35485Pro) c.101530T>C (p.Ser33844Pro) n.446+6402A>G n.220-5694A>G c.105550T>C (p.Ser35184Pro) c.79444T>C (p.Ser26482Pro) c.79303T>C (p.Ser26435Pro) c.105346T>C (p.Ser35116Pro) c.100744T>C (p.Ser33582Pro) c.100741T>C (p.Ser33581Pro) c.97783T>C (p.Ser32595Pro) c.79399T>C (p.Ser26467Pro) c.100894T>C (p.Ser33632Pro) c.100891T>C (p.Ser33631Pro) c.100324T>C (p.Ser33442Pro) c.97666T>C (p.Ser32556Pro) c.97585T>C (p.Ser32529Pro) c.79348T>C (p.Ser26450Pro) c.69202T>C (p.Ser23068Pro) | |
2 | g.178530038A>T | CA349405213 | TTN,TTN-AS1 | c.98749T>A (p.Ser32917Thr) c.79834T>A (p.Ser26612Thr) c.79633T>A (p.Ser26545Thr) c.79258T>A (p.Ser26420Thr) c.106453T>A (p.Ser35485Thr) c.101530T>A (p.Ser33844Thr) n.446+6402A>T n.220-5694A>T c.105550T>A (p.Ser35184Thr) c.79444T>A (p.Ser26482Thr) c.79303T>A (p.Ser26435Thr) c.105346T>A (p.Ser35116Thr) c.100744T>A (p.Ser33582Thr) c.100741T>A (p.Ser33581Thr) c.97783T>A (p.Ser32595Thr) c.79399T>A (p.Ser26467Thr) c.100894T>A (p.Ser33632Thr) c.100891T>A (p.Ser33631Thr) c.100324T>A (p.Ser33442Thr) c.97666T>A (p.Ser32556Thr) c.97585T>A (p.Ser32529Thr) c.79348T>A (p.Ser26450Thr) c.69202T>A (p.Ser23068Thr) | gnomAD v4 |
2 | g.178530039A>C | CA430093844 | TTN,TTN-AS1 | c.98748T>G (p.Thr32916=) c.79833T>G (p.Thr26611=) c.79632T>G (p.Thr26544=) c.79257T>G (p.Thr26419=) c.106452T>G (p.Thr35484=) c.101529T>G (p.Thr33843=) n.446+6403A>C n.220-5693A>C c.105549T>G (p.Thr35183=) c.79443T>G (p.Thr26481=) c.79302T>G (p.Thr26434=) c.105345T>G (p.Thr35115=) c.100743T>G (p.Thr33581=) c.100740T>G (p.Thr33580=) c.97782T>G (p.Thr32594=) c.79398T>G (p.Thr26466=) c.100893T>G (p.Thr33631=) c.100890T>G (p.Thr33630=) c.100323T>G (p.Thr33441=) c.97665T>G (p.Thr32555=) c.97584T>G (p.Thr32528=) c.79347T>G (p.Thr26449=) c.69201T>G (p.Thr23067=) | |
2 | g.178530039A>G | CA430093846 | TTN,TTN-AS1 | c.98748T>C (p.Thr32916=) c.79833T>C (p.Thr26611=) c.79632T>C (p.Thr26544=) c.79257T>C (p.Thr26419=) c.106452T>C (p.Thr35484=) c.101529T>C (p.Thr33843=) n.446+6403A>G n.220-5693A>G c.105549T>C (p.Thr35183=) c.79443T>C (p.Thr26481=) c.79302T>C (p.Thr26434=) c.105345T>C (p.Thr35115=) c.100743T>C (p.Thr33581=) c.100740T>C (p.Thr33580=) c.97782T>C (p.Thr32594=) c.79398T>C (p.Thr26466=) c.100893T>C (p.Thr33631=) c.100890T>C (p.Thr33630=) c.100323T>C (p.Thr33441=) c.97665T>C (p.Thr32555=) c.97584T>C (p.Thr32528=) c.79347T>C (p.Thr26449=) c.69201T>C (p.Thr23067=) | |
2 | g.178530039A>T | CA430093848 | TTN,TTN-AS1 | c.98748T>A (p.Thr32916=) c.79833T>A (p.Thr26611=) c.79632T>A (p.Thr26544=) c.79257T>A (p.Thr26419=) c.106452T>A (p.Thr35484=) c.101529T>A (p.Thr33843=) n.446+6403A>T n.220-5693A>T c.105549T>A (p.Thr35183=) c.79443T>A (p.Thr26481=) c.79302T>A (p.Thr26434=) c.105345T>A (p.Thr35115=) c.100743T>A (p.Thr33581=) c.100740T>A (p.Thr33580=) c.97782T>A (p.Thr32594=) c.79398T>A (p.Thr26466=) c.100893T>A (p.Thr33631=) c.100890T>A (p.Thr33630=) c.100323T>A (p.Thr33441=) c.97665T>A (p.Thr32555=) c.97584T>A (p.Thr32528=) c.79347T>A (p.Thr26449=) c.69201T>A (p.Thr23067=) | |
2 | g.178530040G>A | CA349405217 | TTN,TTN-AS1 | c.98747C>T (p.Thr32916Ile) c.79832C>T (p.Thr26611Ile) c.79631C>T (p.Thr26544Ile) c.79256C>T (p.Thr26419Ile) c.106451C>T (p.Thr35484Ile) c.101528C>T (p.Thr33843Ile) n.446+6404G>A n.220-5692G>A c.105548C>T (p.Thr35183Ile) c.79442C>T (p.Thr26481Ile) c.79301C>T (p.Thr26434Ile) c.105344C>T (p.Thr35115Ile) c.100742C>T (p.Thr33581Ile) c.100739C>T (p.Thr33580Ile) c.97781C>T (p.Thr32594Ile) c.79397C>T (p.Thr26466Ile) c.100892C>T (p.Thr33631Ile) c.100889C>T (p.Thr33630Ile) c.100322C>T (p.Thr33441Ile) c.97664C>T (p.Thr32555Ile) c.97583C>T (p.Thr32528Ile) c.79346C>T (p.Thr26449Ile) c.69200C>T (p.Thr23067Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530040G>C | CA1985102 | TTN,TTN-AS1 | c.98747C>G (p.Thr32916Ser) c.79832C>G (p.Thr26611Ser) c.79631C>G (p.Thr26544Ser) c.79256C>G (p.Thr26419Ser) c.106451C>G (p.Thr35484Ser) c.101528C>G (p.Thr33843Ser) n.446+6404G>C n.220-5692G>C c.105548C>G (p.Thr35183Ser) c.79442C>G (p.Thr26481Ser) c.79301C>G (p.Thr26434Ser) c.105344C>G (p.Thr35115Ser) c.100742C>G (p.Thr33581Ser) c.100739C>G (p.Thr33580Ser) c.97781C>G (p.Thr32594Ser) c.79397C>G (p.Thr26466Ser) c.100892C>G (p.Thr33631Ser) c.100889C>G (p.Thr33630Ser) c.100322C>G (p.Thr33441Ser) c.97664C>G (p.Thr32555Ser) c.97583C>G (p.Thr32528Ser) c.79346C>G (p.Thr26449Ser) c.69200C>G (p.Thr23067Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530040G= | CA1310511367 | TTN,TTN-AS1 | c.98747C= (p.Thr32916=) c.79832C= (p.Thr26611=) c.79631C= (p.Thr26544=) c.79256C= (p.Thr26419=) c.106451C= (p.Thr35484=) c.101528C= (p.Thr33843=) n.446+6404G= n.220-5692G= c.105548C= (p.Thr35183=) c.79442C= (p.Thr26481=) c.79301C= (p.Thr26434=) c.105344C= (p.Thr35115=) c.100742C= (p.Thr33581=) c.100739C= (p.Thr33580=) c.97781C= (p.Thr32594=) c.79397C= (p.Thr26466=) c.100892C= (p.Thr33631=) c.100889C= (p.Thr33630=) c.100322C= (p.Thr33441=) c.97664C= (p.Thr32555=) c.97583C= (p.Thr32528=) c.79346C= (p.Thr26449=) c.69200C= (p.Thr23067=) | |
2 | g.178530040G>T | CA16610278 | TTN,TTN-AS1 | c.98747C>A (p.Thr32916Asn) c.79832C>A (p.Thr26611Asn) c.79631C>A (p.Thr26544Asn) c.79256C>A (p.Thr26419Asn) c.106451C>A (p.Thr35484Asn) c.101528C>A (p.Thr33843Asn) n.446+6404G>T n.220-5692G>T c.105548C>A (p.Thr35183Asn) c.79442C>A (p.Thr26481Asn) c.79301C>A (p.Thr26434Asn) c.105344C>A (p.Thr35115Asn) c.100742C>A (p.Thr33581Asn) c.100739C>A (p.Thr33580Asn) c.97781C>A (p.Thr32594Asn) c.79397C>A (p.Thr26466Asn) c.100892C>A (p.Thr33631Asn) c.100889C>A (p.Thr33630Asn) c.100322C>A (p.Thr33441Asn) c.97664C>A (p.Thr32555Asn) c.97583C>A (p.Thr32528Asn) c.79346C>A (p.Thr26449Asn) c.69200C>A (p.Thr23067Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.178530041T>A | CA349405220 | TTN,TTN-AS1 | c.98746A>T (p.Thr32916Ser) c.79831A>T (p.Thr26611Ser) c.79630A>T (p.Thr26544Ser) c.79255A>T (p.Thr26419Ser) c.106450A>T (p.Thr35484Ser) c.101527A>T (p.Thr33843Ser) n.446+6405T>A n.220-5691T>A c.105547A>T (p.Thr35183Ser) c.79441A>T (p.Thr26481Ser) c.79300A>T (p.Thr26434Ser) c.105343A>T (p.Thr35115Ser) c.100741A>T (p.Thr33581Ser) c.100738A>T (p.Thr33580Ser) c.97780A>T (p.Thr32594Ser) c.79396A>T (p.Thr26466Ser) c.100891A>T (p.Thr33631Ser) c.100888A>T (p.Thr33630Ser) c.100321A>T (p.Thr33441Ser) c.97663A>T (p.Thr32555Ser) c.97582A>T (p.Thr32528Ser) c.79345A>T (p.Thr26449Ser) c.69199A>T (p.Thr23067Ser) | |
2 | g.178530041T>C | CA349405222 | TTN,TTN-AS1 | c.98746A>G (p.Thr32916Ala) c.79831A>G (p.Thr26611Ala) c.79630A>G (p.Thr26544Ala) c.79255A>G (p.Thr26419Ala) c.106450A>G (p.Thr35484Ala) c.101527A>G (p.Thr33843Ala) n.446+6405T>C n.220-5691T>C c.105547A>G (p.Thr35183Ala) c.79441A>G (p.Thr26481Ala) c.79300A>G (p.Thr26434Ala) c.105343A>G (p.Thr35115Ala) c.100741A>G (p.Thr33581Ala) c.100738A>G (p.Thr33580Ala) c.97780A>G (p.Thr32594Ala) c.79396A>G (p.Thr26466Ala) c.100891A>G (p.Thr33631Ala) c.100888A>G (p.Thr33630Ala) c.100321A>G (p.Thr33441Ala) c.97663A>G (p.Thr32555Ala) c.97582A>G (p.Thr32528Ala) c.79345A>G (p.Thr26449Ala) c.69199A>G (p.Thr23067Ala) | |
2 | g.178530041T>G | CA349405223 | TTN,TTN-AS1 | c.98746A>C (p.Thr32916Pro) c.79831A>C (p.Thr26611Pro) c.79630A>C (p.Thr26544Pro) c.79255A>C (p.Thr26419Pro) c.106450A>C (p.Thr35484Pro) c.101527A>C (p.Thr33843Pro) n.446+6405T>G n.220-5691T>G c.105547A>C (p.Thr35183Pro) c.79441A>C (p.Thr26481Pro) c.79300A>C (p.Thr26434Pro) c.105343A>C (p.Thr35115Pro) c.100741A>C (p.Thr33581Pro) c.100738A>C (p.Thr33580Pro) c.97780A>C (p.Thr32594Pro) c.79396A>C (p.Thr26466Pro) c.100891A>C (p.Thr33631Pro) c.100888A>C (p.Thr33630Pro) c.100321A>C (p.Thr33441Pro) c.97663A>C (p.Thr32555Pro) c.97582A>C (p.Thr32528Pro) c.79345A>C (p.Thr26449Pro) c.69199A>C (p.Thr23067Pro) | gnomAD v4 |
2 | g.178530042A>C | CA349405225 | TTN,TTN-AS1 | c.98745T>G (p.Asp32915Glu) c.79830T>G (p.Asp26610Glu) c.79629T>G (p.Asp26543Glu) c.79254T>G (p.Asp26418Glu) c.106449T>G (p.Asp35483Glu) c.101526T>G (p.Asp33842Glu) n.446+6406A>C n.220-5690A>C c.105546T>G (p.Asp35182Glu) c.79440T>G (p.Asp26480Glu) c.79299T>G (p.Asp26433Glu) c.105342T>G (p.Asp35114Glu) c.100740T>G (p.Asp33580Glu) c.100737T>G (p.Asp33579Glu) c.97779T>G (p.Asp32593Glu) c.79395T>G (p.Asp26465Glu) c.100890T>G (p.Asp33630Glu) c.100887T>G (p.Asp33629Glu) c.100320T>G (p.Asp33440Glu) c.97662T>G (p.Asp32554Glu) c.97581T>G (p.Asp32527Glu) c.79344T>G (p.Asp26448Glu) c.69198T>G (p.Asp23066Glu) | |
2 | g.178530042A>G | CA430093857 | TTN,TTN-AS1 | c.98745T>C (p.Asp32915=) c.79830T>C (p.Asp26610=) c.79629T>C (p.Asp26543=) c.79254T>C (p.Asp26418=) c.106449T>C (p.Asp35483=) c.101526T>C (p.Asp33842=) n.446+6406A>G n.220-5690A>G c.105546T>C (p.Asp35182=) c.79440T>C (p.Asp26480=) c.79299T>C (p.Asp26433=) c.105342T>C (p.Asp35114=) c.100740T>C (p.Asp33580=) c.100737T>C (p.Asp33579=) c.97779T>C (p.Asp32593=) c.79395T>C (p.Asp26465=) c.100890T>C (p.Asp33630=) c.100887T>C (p.Asp33629=) c.100320T>C (p.Asp33440=) c.97662T>C (p.Asp32554=) c.97581T>C (p.Asp32527=) c.79344T>C (p.Asp26448=) c.69198T>C (p.Asp23066=) | |
2 | g.178530042A>T | CA349405224 | TTN,TTN-AS1 | c.98745T>A (p.Asp32915Glu) c.79830T>A (p.Asp26610Glu) c.79629T>A (p.Asp26543Glu) c.79254T>A (p.Asp26418Glu) c.106449T>A (p.Asp35483Glu) c.101526T>A (p.Asp33842Glu) n.446+6406A>T n.220-5690A>T c.105546T>A (p.Asp35182Glu) c.79440T>A (p.Asp26480Glu) c.79299T>A (p.Asp26433Glu) c.105342T>A (p.Asp35114Glu) c.100740T>A (p.Asp33580Glu) c.100737T>A (p.Asp33579Glu) c.97779T>A (p.Asp32593Glu) c.79395T>A (p.Asp26465Glu) c.100890T>A (p.Asp33630Glu) c.100887T>A (p.Asp33629Glu) c.100320T>A (p.Asp33440Glu) c.97662T>A (p.Asp32554Glu) c.97581T>A (p.Asp32527Glu) c.79344T>A (p.Asp26448Glu) c.69198T>A (p.Asp23066Glu) | |
2 | g.178530043T>A | CA349405226 | TTN,TTN-AS1 | c.98744A>T (p.Asp32915Val) c.79829A>T (p.Asp26610Val) c.79628A>T (p.Asp26543Val) c.79253A>T (p.Asp26418Val) c.106448A>T (p.Asp35483Val) c.101525A>T (p.Asp33842Val) n.446+6407T>A n.220-5689T>A c.105545A>T (p.Asp35182Val) c.79439A>T (p.Asp26480Val) c.79298A>T (p.Asp26433Val) c.105341A>T (p.Asp35114Val) c.100739A>T (p.Asp33580Val) c.100736A>T (p.Asp33579Val) c.97778A>T (p.Asp32593Val) c.79394A>T (p.Asp26465Val) c.100889A>T (p.Asp33630Val) c.100886A>T (p.Asp33629Val) c.100319A>T (p.Asp33440Val) c.97661A>T (p.Asp32554Val) c.97580A>T (p.Asp32527Val) c.79343A>T (p.Asp26448Val) c.69197A>T (p.Asp23066Val) | |
2 | g.178530043T>C | CA349405227 | TTN,TTN-AS1 | c.98744A>G (p.Asp32915Gly) c.79829A>G (p.Asp26610Gly) c.79628A>G (p.Asp26543Gly) c.79253A>G (p.Asp26418Gly) c.106448A>G (p.Asp35483Gly) c.101525A>G (p.Asp33842Gly) n.446+6407T>C n.220-5689T>C c.105545A>G (p.Asp35182Gly) c.79439A>G (p.Asp26480Gly) c.79298A>G (p.Asp26433Gly) c.105341A>G (p.Asp35114Gly) c.100739A>G (p.Asp33580Gly) c.100736A>G (p.Asp33579Gly) c.97778A>G (p.Asp32593Gly) c.79394A>G (p.Asp26465Gly) c.100889A>G (p.Asp33630Gly) c.100886A>G (p.Asp33629Gly) c.100319A>G (p.Asp33440Gly) c.97661A>G (p.Asp32554Gly) c.97580A>G (p.Asp32527Gly) c.79343A>G (p.Asp26448Gly) c.69197A>G (p.Asp23066Gly) | |
2 | g.178530043T>G | CA349405228 | TTN,TTN-AS1 | c.98744A>C (p.Asp32915Ala) c.79829A>C (p.Asp26610Ala) c.79628A>C (p.Asp26543Ala) c.79253A>C (p.Asp26418Ala) c.106448A>C (p.Asp35483Ala) c.101525A>C (p.Asp33842Ala) n.446+6407T>G n.220-5689T>G c.105545A>C (p.Asp35182Ala) c.79439A>C (p.Asp26480Ala) c.79298A>C (p.Asp26433Ala) c.105341A>C (p.Asp35114Ala) c.100739A>C (p.Asp33580Ala) c.100736A>C (p.Asp33579Ala) c.97778A>C (p.Asp32593Ala) c.79394A>C (p.Asp26465Ala) c.100889A>C (p.Asp33630Ala) c.100886A>C (p.Asp33629Ala) c.100319A>C (p.Asp33440Ala) c.97661A>C (p.Asp32554Ala) c.97580A>C (p.Asp32527Ala) c.79343A>C (p.Asp26448Ala) c.69197A>C (p.Asp23066Ala) | |
2 | g.178530044C>A | CA349405229 | TTN,TTN-AS1 | c.98743G>T (p.Asp32915Tyr) c.79828G>T (p.Asp26610Tyr) c.79627G>T (p.Asp26543Tyr) c.79252G>T (p.Asp26418Tyr) c.106447G>T (p.Asp35483Tyr) c.101524G>T (p.Asp33842Tyr) n.446+6408C>A n.220-5688C>A c.105544G>T (p.Asp35182Tyr) c.79438G>T (p.Asp26480Tyr) c.79297G>T (p.Asp26433Tyr) c.105340G>T (p.Asp35114Tyr) c.100738G>T (p.Asp33580Tyr) c.100735G>T (p.Asp33579Tyr) c.97777G>T (p.Asp32593Tyr) c.79393G>T (p.Asp26465Tyr) c.100888G>T (p.Asp33630Tyr) c.100885G>T (p.Asp33629Tyr) c.100318G>T (p.Asp33440Tyr) c.97660G>T (p.Asp32554Tyr) c.97579G>T (p.Asp32527Tyr) c.79342G>T (p.Asp26448Tyr) c.69196G>T (p.Asp23066Tyr) | |
2 | g.178530044C>G | CA349405230 | TTN,TTN-AS1 | c.98743G>C (p.Asp32915His) c.79828G>C (p.Asp26610His) c.79627G>C (p.Asp26543His) c.79252G>C (p.Asp26418His) c.106447G>C (p.Asp35483His) c.101524G>C (p.Asp33842His) n.446+6408C>G n.220-5688C>G c.105544G>C (p.Asp35182His) c.79438G>C (p.Asp26480His) c.79297G>C (p.Asp26433His) c.105340G>C (p.Asp35114His) c.100738G>C (p.Asp33580His) c.100735G>C (p.Asp33579His) c.97777G>C (p.Asp32593His) c.79393G>C (p.Asp26465His) c.100888G>C (p.Asp33630His) c.100885G>C (p.Asp33629His) c.100318G>C (p.Asp33440His) c.97660G>C (p.Asp32554His) c.97579G>C (p.Asp32527His) c.79342G>C (p.Asp26448His) c.69196G>C (p.Asp23066His) | |
2 | g.178530044C>T | CA349405231 | TTN,TTN-AS1 | c.98743G>A (p.Asp32915Asn) c.79828G>A (p.Asp26610Asn) c.79627G>A (p.Asp26543Asn) c.79252G>A (p.Asp26418Asn) c.106447G>A (p.Asp35483Asn) c.101524G>A (p.Asp33842Asn) n.446+6408C>T n.220-5688C>T c.105544G>A (p.Asp35182Asn) c.79438G>A (p.Asp26480Asn) c.79297G>A (p.Asp26433Asn) c.105340G>A (p.Asp35114Asn) c.100738G>A (p.Asp33580Asn) c.100735G>A (p.Asp33579Asn) c.97777G>A (p.Asp32593Asn) c.79393G>A (p.Asp26465Asn) c.100888G>A (p.Asp33630Asn) c.100885G>A (p.Asp33629Asn) c.100318G>A (p.Asp33440Asn) c.97660G>A (p.Asp32554Asn) c.97579G>A (p.Asp32527Asn) c.79342G>A (p.Asp26448Asn) c.69196G>A (p.Asp23066Asn) | |
2 | g.178530045A>C | CA430093862 | TTN,TTN-AS1 | c.98742T>G (p.Thr32914=) c.79827T>G (p.Thr26609=) c.79626T>G (p.Thr26542=) c.79251T>G (p.Thr26417=) c.106446T>G (p.Thr35482=) c.101523T>G (p.Thr33841=) n.446+6409A>C n.220-5687A>C c.105543T>G (p.Thr35181=) c.79437T>G (p.Thr26479=) c.79296T>G (p.Thr26432=) c.105339T>G (p.Thr35113=) c.100737T>G (p.Thr33579=) c.100734T>G (p.Thr33578=) c.97776T>G (p.Thr32592=) c.79392T>G (p.Thr26464=) c.100887T>G (p.Thr33629=) c.100884T>G (p.Thr33628=) c.100317T>G (p.Thr33439=) c.97659T>G (p.Thr32553=) c.97578T>G (p.Thr32526=) c.79341T>G (p.Thr26447=) c.69195T>G (p.Thr23065=) | |
2 | g.178530045A>G | CA430093864 | TTN,TTN-AS1 | c.98742T>C (p.Thr32914=) c.79827T>C (p.Thr26609=) c.79626T>C (p.Thr26542=) c.79251T>C (p.Thr26417=) c.106446T>C (p.Thr35482=) c.101523T>C (p.Thr33841=) n.446+6409A>G n.220-5687A>G c.105543T>C (p.Thr35181=) c.79437T>C (p.Thr26479=) c.79296T>C (p.Thr26432=) c.105339T>C (p.Thr35113=) c.100737T>C (p.Thr33579=) c.100734T>C (p.Thr33578=) c.97776T>C (p.Thr32592=) c.79392T>C (p.Thr26464=) c.100887T>C (p.Thr33629=) c.100884T>C (p.Thr33628=) c.100317T>C (p.Thr33439=) c.97659T>C (p.Thr32553=) c.97578T>C (p.Thr32526=) c.79341T>C (p.Thr26447=) c.69195T>C (p.Thr23065=) | |
2 | g.178530045A>T | CA430093865 | TTN,TTN-AS1 | c.98742T>A (p.Thr32914=) c.79827T>A (p.Thr26609=) c.79626T>A (p.Thr26542=) c.79251T>A (p.Thr26417=) c.106446T>A (p.Thr35482=) c.101523T>A (p.Thr33841=) n.446+6409A>T n.220-5687A>T c.105543T>A (p.Thr35181=) c.79437T>A (p.Thr26479=) c.79296T>A (p.Thr26432=) c.105339T>A (p.Thr35113=) c.100737T>A (p.Thr33579=) c.100734T>A (p.Thr33578=) c.97776T>A (p.Thr32592=) c.79392T>A (p.Thr26464=) c.100887T>A (p.Thr33629=) c.100884T>A (p.Thr33628=) c.100317T>A (p.Thr33439=) c.97659T>A (p.Thr32553=) c.97578T>A (p.Thr32526=) c.79341T>A (p.Thr26447=) c.69195T>A (p.Thr23065=) | |
2 | g.178530046G>A | CA349405232 | TTN,TTN-AS1 | c.98741C>T (p.Thr32914Ile) c.79826C>T (p.Thr26609Ile) c.79625C>T (p.Thr26542Ile) c.79250C>T (p.Thr26417Ile) c.106445C>T (p.Thr35482Ile) c.101522C>T (p.Thr33841Ile) n.446+6410G>A n.220-5686G>A c.105542C>T (p.Thr35181Ile) c.79436C>T (p.Thr26479Ile) c.79295C>T (p.Thr26432Ile) c.105338C>T (p.Thr35113Ile) c.100736C>T (p.Thr33579Ile) c.100733C>T (p.Thr33578Ile) c.97775C>T (p.Thr32592Ile) c.79391C>T (p.Thr26464Ile) c.100886C>T (p.Thr33629Ile) c.100883C>T (p.Thr33628Ile) c.100316C>T (p.Thr33439Ile) c.97658C>T (p.Thr32553Ile) c.97577C>T (p.Thr32526Ile) c.79340C>T (p.Thr26447Ile) c.69194C>T (p.Thr23065Ile) | |
2 | g.178530046G>C | CA141748 | TTN,TTN-AS1 | c.98741C>G (p.Thr32914Ser) c.79826C>G (p.Thr26609Ser) c.79625C>G (p.Thr26542Ser) c.79250C>G (p.Thr26417Ser) c.106445C>G (p.Thr35482Ser) c.101522C>G (p.Thr33841Ser) n.446+6410G>C n.220-5686G>C c.105542C>G (p.Thr35181Ser) c.79436C>G (p.Thr26479Ser) c.79295C>G (p.Thr26432Ser) c.105338C>G (p.Thr35113Ser) c.100736C>G (p.Thr33579Ser) c.100733C>G (p.Thr33578Ser) c.97775C>G (p.Thr32592Ser) c.79391C>G (p.Thr26464Ser) c.100886C>G (p.Thr33629Ser) c.100883C>G (p.Thr33628Ser) c.100316C>G (p.Thr33439Ser) c.97658C>G (p.Thr32553Ser) c.97577C>G (p.Thr32526Ser) c.79340C>G (p.Thr26447Ser) c.69194C>G (p.Thr23065Ser) | ClinVar dbSNP |
2 | g.178530046G= | CA1310511374 | TTN,TTN-AS1 | c.98741C= (p.Thr32914=) c.79826C= (p.Thr26609=) c.79625C= (p.Thr26542=) c.79250C= (p.Thr26417=) c.106445C= (p.Thr35482=) c.101522C= (p.Thr33841=) n.446+6410G= n.220-5686G= c.105542C= (p.Thr35181=) c.79436C= (p.Thr26479=) c.79295C= (p.Thr26432=) c.105338C= (p.Thr35113=) c.100736C= (p.Thr33579=) c.100733C= (p.Thr33578=) c.97775C= (p.Thr32592=) c.79391C= (p.Thr26464=) c.100886C= (p.Thr33629=) c.100883C= (p.Thr33628=) c.100316C= (p.Thr33439=) c.97658C= (p.Thr32553=) c.97577C= (p.Thr32526=) c.79340C= (p.Thr26447=) c.69194C= (p.Thr23065=) | |
2 | g.178530046G>T | CA349405234 | TTN,TTN-AS1 | c.98741C>A (p.Thr32914Asn) c.79826C>A (p.Thr26609Asn) c.79625C>A (p.Thr26542Asn) c.79250C>A (p.Thr26417Asn) c.106445C>A (p.Thr35482Asn) c.101522C>A (p.Thr33841Asn) n.446+6410G>T n.220-5686G>T c.105542C>A (p.Thr35181Asn) c.79436C>A (p.Thr26479Asn) c.79295C>A (p.Thr26432Asn) c.105338C>A (p.Thr35113Asn) c.100736C>A (p.Thr33579Asn) c.100733C>A (p.Thr33578Asn) c.97775C>A (p.Thr32592Asn) c.79391C>A (p.Thr26464Asn) c.100886C>A (p.Thr33629Asn) c.100883C>A (p.Thr33628Asn) c.100316C>A (p.Thr33439Asn) c.97658C>A (p.Thr32553Asn) c.97577C>A (p.Thr32526Asn) c.79340C>A (p.Thr26447Asn) c.69194C>A (p.Thr23065Asn) | |
2 | g.178530047T>A | CA349405236 | TTN,TTN-AS1 | c.98740A>T (p.Thr32914Ser) c.79825A>T (p.Thr26609Ser) c.79624A>T (p.Thr26542Ser) c.79249A>T (p.Thr26417Ser) c.106444A>T (p.Thr35482Ser) c.101521A>T (p.Thr33841Ser) n.446+6411T>A n.220-5685T>A c.105541A>T (p.Thr35181Ser) c.79435A>T (p.Thr26479Ser) c.79294A>T (p.Thr26432Ser) c.105337A>T (p.Thr35113Ser) c.100735A>T (p.Thr33579Ser) c.100732A>T (p.Thr33578Ser) c.97774A>T (p.Thr32592Ser) c.79390A>T (p.Thr26464Ser) c.100885A>T (p.Thr33629Ser) c.100882A>T (p.Thr33628Ser) c.100315A>T (p.Thr33439Ser) c.97657A>T (p.Thr32553Ser) c.97576A>T (p.Thr32526Ser) c.79339A>T (p.Thr26447Ser) c.69193A>T (p.Thr23065Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.178530047T>C | CA349405238 | TTN,TTN-AS1 | c.98740A>G (p.Thr32914Ala) c.79825A>G (p.Thr26609Ala) c.79624A>G (p.Thr26542Ala) c.79249A>G (p.Thr26417Ala) c.106444A>G (p.Thr35482Ala) c.101521A>G (p.Thr33841Ala) n.446+6411T>C n.220-5685T>C c.105541A>G (p.Thr35181Ala) c.79435A>G (p.Thr26479Ala) c.79294A>G (p.Thr26432Ala) c.105337A>G (p.Thr35113Ala) c.100735A>G (p.Thr33579Ala) c.100732A>G (p.Thr33578Ala) c.97774A>G (p.Thr32592Ala) c.79390A>G (p.Thr26464Ala) c.100885A>G (p.Thr33629Ala) c.100882A>G (p.Thr33628Ala) c.100315A>G (p.Thr33439Ala) c.97657A>G (p.Thr32553Ala) c.97576A>G (p.Thr32526Ala) c.79339A>G (p.Thr26447Ala) c.69193A>G (p.Thr23065Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530047T>G | CA349405239 | TTN,TTN-AS1 | c.98740A>C (p.Thr32914Pro) c.79825A>C (p.Thr26609Pro) c.79624A>C (p.Thr26542Pro) c.79249A>C (p.Thr26417Pro) c.106444A>C (p.Thr35482Pro) c.101521A>C (p.Thr33841Pro) n.446+6411T>G n.220-5685T>G c.105541A>C (p.Thr35181Pro) c.79435A>C (p.Thr26479Pro) c.79294A>C (p.Thr26432Pro) c.105337A>C (p.Thr35113Pro) c.100735A>C (p.Thr33579Pro) c.100732A>C (p.Thr33578Pro) c.97774A>C (p.Thr32592Pro) c.79390A>C (p.Thr26464Pro) c.100885A>C (p.Thr33629Pro) c.100882A>C (p.Thr33628Pro) c.100315A>C (p.Thr33439Pro) c.97657A>C (p.Thr32553Pro) c.97576A>C (p.Thr32526Pro) c.79339A>C (p.Thr26447Pro) c.69193A>C (p.Thr23065Pro) | |
2 | g.178530047T= | CA1310511380 | TTN,TTN-AS1 | c.98740A= (p.Thr32914=) c.79825A= (p.Thr26609=) c.79624A= (p.Thr26542=) c.79249A= (p.Thr26417=) c.106444A= (p.Thr35482=) c.101521A= (p.Thr33841=) n.446+6411T= n.220-5685T= c.105541A= (p.Thr35181=) c.79435A= (p.Thr26479=) c.79294A= (p.Thr26432=) c.105337A= (p.Thr35113=) c.100735A= (p.Thr33579=) c.100732A= (p.Thr33578=) c.97774A= (p.Thr32592=) c.79390A= (p.Thr26464=) c.100885A= (p.Thr33629=) c.100882A= (p.Thr33628=) c.100315A= (p.Thr33439=) c.97657A= (p.Thr32553=) c.97576A= (p.Thr32526=) c.79339A= (p.Thr26447=) c.69193A= (p.Thr23065=) | |
2 | g.178530048C>A | CA349405240 | TTN,TTN-AS1 | c.98739G>T (p.Lys32913Asn) c.79824G>T (p.Lys26608Asn) c.79623G>T (p.Lys26541Asn) c.79248G>T (p.Lys26416Asn) c.106443G>T (p.Lys35481Asn) c.101520G>T (p.Lys33840Asn) n.446+6412C>A n.220-5684C>A c.105540G>T (p.Lys35180Asn) c.79434G>T (p.Lys26478Asn) c.79293G>T (p.Lys26431Asn) c.105336G>T (p.Lys35112Asn) c.100734G>T (p.Lys33578Asn) c.100731G>T (p.Lys33577Asn) c.97773G>T (p.Lys32591Asn) c.79389G>T (p.Lys26463Asn) c.100884G>T (p.Lys33628Asn) c.100881G>T (p.Lys33627Asn) c.100314G>T (p.Lys33438Asn) c.97656G>T (p.Lys32552Asn) c.97575G>T (p.Lys32525Asn) c.79338G>T (p.Lys26446Asn) c.69192G>T (p.Lys23064Asn) | |
2 | g.178530048C>G | CA349405242 | TTN,TTN-AS1 | c.98739G>C (p.Lys32913Asn) c.79824G>C (p.Lys26608Asn) c.79623G>C (p.Lys26541Asn) c.79248G>C (p.Lys26416Asn) c.106443G>C (p.Lys35481Asn) c.101520G>C (p.Lys33840Asn) n.446+6412C>G n.220-5684C>G c.105540G>C (p.Lys35180Asn) c.79434G>C (p.Lys26478Asn) c.79293G>C (p.Lys26431Asn) c.105336G>C (p.Lys35112Asn) c.100734G>C (p.Lys33578Asn) c.100731G>C (p.Lys33577Asn) c.97773G>C (p.Lys32591Asn) c.79389G>C (p.Lys26463Asn) c.100884G>C (p.Lys33628Asn) c.100881G>C (p.Lys33627Asn) c.100314G>C (p.Lys33438Asn) c.97656G>C (p.Lys32552Asn) c.97575G>C (p.Lys32525Asn) c.79338G>C (p.Lys26446Asn) c.69192G>C (p.Lys23064Asn) | |
2 | g.178530048C>T | CA430093874 | TTN,TTN-AS1 | c.98739G>A (p.Lys32913=) c.79824G>A (p.Lys26608=) c.79623G>A (p.Lys26541=) c.79248G>A (p.Lys26416=) c.106443G>A (p.Lys35481=) c.101520G>A (p.Lys33840=) n.446+6412C>T n.220-5684C>T c.105540G>A (p.Lys35180=) c.79434G>A (p.Lys26478=) c.79293G>A (p.Lys26431=) c.105336G>A (p.Lys35112=) c.100734G>A (p.Lys33578=) c.100731G>A (p.Lys33577=) c.97773G>A (p.Lys32591=) c.79389G>A (p.Lys26463=) c.100884G>A (p.Lys33628=) c.100881G>A (p.Lys33627=) c.100314G>A (p.Lys33438=) c.97656G>A (p.Lys32552=) c.97575G>A (p.Lys32525=) c.79338G>A (p.Lys26446=) c.69192G>A (p.Lys23064=) | |
2 | g.178530049T>A | CA349405245 | TTN,TTN-AS1 | c.98738A>T (p.Lys32913Met) c.79823A>T (p.Lys26608Met) c.79622A>T (p.Lys26541Met) c.79247A>T (p.Lys26416Met) c.106442A>T (p.Lys35481Met) c.101519A>T (p.Lys33840Met) n.446+6413T>A n.220-5683T>A c.105539A>T (p.Lys35180Met) c.79433A>T (p.Lys26478Met) c.79292A>T (p.Lys26431Met) c.105335A>T (p.Lys35112Met) c.100733A>T (p.Lys33578Met) c.100730A>T (p.Lys33577Met) c.97772A>T (p.Lys32591Met) c.79388A>T (p.Lys26463Met) c.100883A>T (p.Lys33628Met) c.100880A>T (p.Lys33627Met) c.100313A>T (p.Lys33438Met) c.97655A>T (p.Lys32552Met) c.97574A>T (p.Lys32525Met) c.79337A>T (p.Lys26446Met) c.69191A>T (p.Lys23064Met) | |
2 | g.178530049T>C | CA1985103 | TTN,TTN-AS1 | c.98738A>G (p.Lys32913Arg) c.79823A>G (p.Lys26608Arg) c.79622A>G (p.Lys26541Arg) c.79247A>G (p.Lys26416Arg) c.106442A>G (p.Lys35481Arg) c.101519A>G (p.Lys33840Arg) n.446+6413T>C n.220-5683T>C c.105539A>G (p.Lys35180Arg) c.79433A>G (p.Lys26478Arg) c.79292A>G (p.Lys26431Arg) c.105335A>G (p.Lys35112Arg) c.100733A>G (p.Lys33578Arg) c.100730A>G (p.Lys33577Arg) c.97772A>G (p.Lys32591Arg) c.79388A>G (p.Lys26463Arg) c.100883A>G (p.Lys33628Arg) c.100880A>G (p.Lys33627Arg) c.100313A>G (p.Lys33438Arg) c.97655A>G (p.Lys32552Arg) c.97574A>G (p.Lys32525Arg) c.79337A>G (p.Lys26446Arg) c.69191A>G (p.Lys23064Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530049T>G | CA349405246 | TTN,TTN-AS1 | c.98738A>C (p.Lys32913Thr) c.79823A>C (p.Lys26608Thr) c.79622A>C (p.Lys26541Thr) c.79247A>C (p.Lys26416Thr) c.106442A>C (p.Lys35481Thr) c.101519A>C (p.Lys33840Thr) n.446+6413T>G n.220-5683T>G c.105539A>C (p.Lys35180Thr) c.79433A>C (p.Lys26478Thr) c.79292A>C (p.Lys26431Thr) c.105335A>C (p.Lys35112Thr) c.100733A>C (p.Lys33578Thr) c.100730A>C (p.Lys33577Thr) c.97772A>C (p.Lys32591Thr) c.79388A>C (p.Lys26463Thr) c.100883A>C (p.Lys33628Thr) c.100880A>C (p.Lys33627Thr) c.100313A>C (p.Lys33438Thr) c.97655A>C (p.Lys32552Thr) c.97574A>C (p.Lys32525Thr) c.79337A>C (p.Lys26446Thr) c.69191A>C (p.Lys23064Thr) | |
2 | g.178530049T= | CA1310511384 | TTN,TTN-AS1 | c.98738A= (p.Lys32913=) c.79823A= (p.Lys26608=) c.79622A= (p.Lys26541=) c.79247A= (p.Lys26416=) c.106442A= (p.Lys35481=) c.101519A= (p.Lys33840=) n.446+6413T= n.220-5683T= c.105539A= (p.Lys35180=) c.79433A= (p.Lys26478=) c.79292A= (p.Lys26431=) c.105335A= (p.Lys35112=) c.100733A= (p.Lys33578=) c.100730A= (p.Lys33577=) c.97772A= (p.Lys32591=) c.79388A= (p.Lys26463=) c.100883A= (p.Lys33628=) c.100880A= (p.Lys33627=) c.100313A= (p.Lys33438=) c.97655A= (p.Lys32552=) c.97574A= (p.Lys32525=) c.79337A= (p.Lys26446=) c.69191A= (p.Lys23064=) | |
2 | g.178530050T>A | CA349405247 | TTN,TTN-AS1 | c.98737A>T (p.Lys32913Ter) c.79822A>T (p.Lys26608Ter) c.79621A>T (p.Lys26541Ter) c.79246A>T (p.Lys26416Ter) c.106441A>T (p.Lys35481Ter) c.101518A>T (p.Lys33840Ter) n.446+6414T>A n.220-5682T>A c.105538A>T (p.Lys35180Ter) c.79432A>T (p.Lys26478Ter) c.79291A>T (p.Lys26431Ter) c.105334A>T (p.Lys35112Ter) c.100732A>T (p.Lys33578Ter) c.100729A>T (p.Lys33577Ter) c.97771A>T (p.Lys32591Ter) c.79387A>T (p.Lys26463Ter) c.100882A>T (p.Lys33628Ter) c.100879A>T (p.Lys33627Ter) c.100312A>T (p.Lys33438Ter) c.97654A>T (p.Lys32552Ter) c.97573A>T (p.Lys32525Ter) c.79336A>T (p.Lys26446Ter) c.69190A>T (p.Lys23064Ter) | |
2 | g.178530050T>C | CA349405248 | TTN,TTN-AS1 | c.98737A>G (p.Lys32913Glu) c.79822A>G (p.Lys26608Glu) c.79621A>G (p.Lys26541Glu) c.79246A>G (p.Lys26416Glu) c.106441A>G (p.Lys35481Glu) c.101518A>G (p.Lys33840Glu) n.446+6414T>C n.220-5682T>C c.105538A>G (p.Lys35180Glu) c.79432A>G (p.Lys26478Glu) c.79291A>G (p.Lys26431Glu) c.105334A>G (p.Lys35112Glu) c.100732A>G (p.Lys33578Glu) c.100729A>G (p.Lys33577Glu) c.97771A>G (p.Lys32591Glu) c.79387A>G (p.Lys26463Glu) c.100882A>G (p.Lys33628Glu) c.100879A>G (p.Lys33627Glu) c.100312A>G (p.Lys33438Glu) c.97654A>G (p.Lys32552Glu) c.97573A>G (p.Lys32525Glu) c.79336A>G (p.Lys26446Glu) c.69190A>G (p.Lys23064Glu) | |
2 | g.178530050T>G | CA349405250 | TTN,TTN-AS1 | c.98737A>C (p.Lys32913Gln) c.79822A>C (p.Lys26608Gln) c.79621A>C (p.Lys26541Gln) c.79246A>C (p.Lys26416Gln) c.106441A>C (p.Lys35481Gln) c.101518A>C (p.Lys33840Gln) n.446+6414T>G n.220-5682T>G c.105538A>C (p.Lys35180Gln) c.79432A>C (p.Lys26478Gln) c.79291A>C (p.Lys26431Gln) c.105334A>C (p.Lys35112Gln) c.100732A>C (p.Lys33578Gln) c.100729A>C (p.Lys33577Gln) c.97771A>C (p.Lys32591Gln) c.79387A>C (p.Lys26463Gln) c.100882A>C (p.Lys33628Gln) c.100879A>C (p.Lys33627Gln) c.100312A>C (p.Lys33438Gln) c.97654A>C (p.Lys32552Gln) c.97573A>C (p.Lys32525Gln) c.79336A>C (p.Lys26446Gln) c.69190A>C (p.Lys23064Gln) | |
2 | g.178530051A>C | CA349405252 | TTN,TTN-AS1 | c.98736T>G (p.His32912Gln) c.79821T>G (p.His26607Gln) c.79620T>G (p.His26540Gln) c.79245T>G (p.His26415Gln) c.106440T>G (p.His35480Gln) c.101517T>G (p.His33839Gln) n.446+6415A>C n.220-5681A>C c.105537T>G (p.His35179Gln) c.79431T>G (p.His26477Gln) c.79290T>G (p.His26430Gln) c.105333T>G (p.His35111Gln) c.100731T>G (p.His33577Gln) c.100728T>G (p.His33576Gln) c.97770T>G (p.His32590Gln) c.79386T>G (p.His26462Gln) c.100881T>G (p.His33627Gln) c.100878T>G (p.His33626Gln) c.100311T>G (p.His33437Gln) c.97653T>G (p.His32551Gln) c.97572T>G (p.His32524Gln) c.79335T>G (p.His26445Gln) c.69189T>G (p.His23063Gln) | |
2 | g.178530051A>G | CA430093882 | TTN,TTN-AS1 | c.98736T>C (p.His32912=) c.79821T>C (p.His26607=) c.79620T>C (p.His26540=) c.79245T>C (p.His26415=) c.106440T>C (p.His35480=) c.101517T>C (p.His33839=) n.446+6415A>G n.220-5681A>G c.105537T>C (p.His35179=) c.79431T>C (p.His26477=) c.79290T>C (p.His26430=) c.105333T>C (p.His35111=) c.100731T>C (p.His33577=) c.100728T>C (p.His33576=) c.97770T>C (p.His32590=) c.79386T>C (p.His26462=) c.100881T>C (p.His33627=) c.100878T>C (p.His33626=) c.100311T>C (p.His33437=) c.97653T>C (p.His32551=) c.97572T>C (p.His32524=) c.79335T>C (p.His26445=) c.69189T>C (p.His23063=) | |
2 | g.178530051A>T | CA349405254 | TTN,TTN-AS1 | c.98736T>A (p.His32912Gln) c.79821T>A (p.His26607Gln) c.79620T>A (p.His26540Gln) c.79245T>A (p.His26415Gln) c.106440T>A (p.His35480Gln) c.101517T>A (p.His33839Gln) n.446+6415A>T n.220-5681A>T c.105537T>A (p.His35179Gln) c.79431T>A (p.His26477Gln) c.79290T>A (p.His26430Gln) c.105333T>A (p.His35111Gln) c.100731T>A (p.His33577Gln) c.100728T>A (p.His33576Gln) c.97770T>A (p.His32590Gln) c.79386T>A (p.His26462Gln) c.100881T>A (p.His33627Gln) c.100878T>A (p.His33626Gln) c.100311T>A (p.His33437Gln) c.97653T>A (p.His32551Gln) c.97572T>A (p.His32524Gln) c.79335T>A (p.His26445Gln) c.69189T>A (p.His23063Gln) | |
2 | g.178530052T>A | CA349405257 | TTN,TTN-AS1 | c.98735A>T (p.His32912Leu) c.79820A>T (p.His26607Leu) c.79619A>T (p.His26540Leu) c.79244A>T (p.His26415Leu) c.106439A>T (p.His35480Leu) c.101516A>T (p.His33839Leu) n.446+6416T>A n.220-5680T>A c.105536A>T (p.His35179Leu) c.79430A>T (p.His26477Leu) c.79289A>T (p.His26430Leu) c.105332A>T (p.His35111Leu) c.100730A>T (p.His33577Leu) c.100727A>T (p.His33576Leu) c.97769A>T (p.His32590Leu) c.79385A>T (p.His26462Leu) c.100880A>T (p.His33627Leu) c.100877A>T (p.His33626Leu) c.100310A>T (p.His33437Leu) c.97652A>T (p.His32551Leu) c.97571A>T (p.His32524Leu) c.79334A>T (p.His26445Leu) c.69188A>T (p.His23063Leu) | |
2 | g.178530052T>C | CA60953022 | TTN,TTN-AS1 | c.98735A>G (p.His32912Arg) c.79820A>G (p.His26607Arg) c.79619A>G (p.His26540Arg) c.79244A>G (p.His26415Arg) c.106439A>G (p.His35480Arg) c.101516A>G (p.His33839Arg) n.446+6416T>C n.220-5680T>C c.105536A>G (p.His35179Arg) c.79430A>G (p.His26477Arg) c.79289A>G (p.His26430Arg) c.105332A>G (p.His35111Arg) c.100730A>G (p.His33577Arg) c.100727A>G (p.His33576Arg) c.97769A>G (p.His32590Arg) c.79385A>G (p.His26462Arg) c.100880A>G (p.His33627Arg) c.100877A>G (p.His33626Arg) c.100310A>G (p.His33437Arg) c.97652A>G (p.His32551Arg) c.97571A>G (p.His32524Arg) c.79334A>G (p.His26445Arg) c.69188A>G (p.His23063Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530052T>G | CA349405256 | TTN,TTN-AS1 | c.98735A>C (p.His32912Pro) c.79820A>C (p.His26607Pro) c.79619A>C (p.His26540Pro) c.79244A>C (p.His26415Pro) c.106439A>C (p.His35480Pro) c.101516A>C (p.His33839Pro) n.446+6416T>G n.220-5680T>G c.105536A>C (p.His35179Pro) c.79430A>C (p.His26477Pro) c.79289A>C (p.His26430Pro) c.105332A>C (p.His35111Pro) c.100730A>C (p.His33577Pro) c.100727A>C (p.His33576Pro) c.97769A>C (p.His32590Pro) c.79385A>C (p.His26462Pro) c.100880A>C (p.His33627Pro) c.100877A>C (p.His33626Pro) c.100310A>C (p.His33437Pro) c.97652A>C (p.His32551Pro) c.97571A>C (p.His32524Pro) c.79334A>C (p.His26445Pro) c.69188A>C (p.His23063Pro) | ClinVar gnomAD v4 |
2 | g.178530052T= | CA1310511391 | TTN,TTN-AS1 | c.98735A= (p.His32912=) c.79820A= (p.His26607=) c.79619A= (p.His26540=) c.79244A= (p.His26415=) c.106439A= (p.His35480=) c.101516A= (p.His33839=) n.446+6416T= n.220-5680T= c.105536A= (p.His35179=) c.79430A= (p.His26477=) c.79289A= (p.His26430=) c.105332A= (p.His35111=) c.100730A= (p.His33577=) c.100727A= (p.His33576=) c.97769A= (p.His32590=) c.79385A= (p.His26462=) c.100880A= (p.His33627=) c.100877A= (p.His33626=) c.100310A= (p.His33437=) c.97652A= (p.His32551=) c.97571A= (p.His32524=) c.79334A= (p.His26445=) c.69188A= (p.His23063=) | |
2 | g.178530053G>A | CA349405262 | TTN,TTN-AS1 | c.98734C>T (p.His32912Tyr) c.79819C>T (p.His26607Tyr) c.79618C>T (p.His26540Tyr) c.79243C>T (p.His26415Tyr) c.106438C>T (p.His35480Tyr) c.101515C>T (p.His33839Tyr) n.446+6417G>A n.220-5679G>A c.105535C>T (p.His35179Tyr) c.79429C>T (p.His26477Tyr) c.79288C>T (p.His26430Tyr) c.105331C>T (p.His35111Tyr) c.100729C>T (p.His33577Tyr) c.100726C>T (p.His33576Tyr) c.97768C>T (p.His32590Tyr) c.79384C>T (p.His26462Tyr) c.100879C>T (p.His33627Tyr) c.100876C>T (p.His33626Tyr) c.100309C>T (p.His33437Tyr) c.97651C>T (p.His32551Tyr) c.97570C>T (p.His32524Tyr) c.79333C>T (p.His26445Tyr) c.69187C>T (p.His23063Tyr) | |
2 | g.178530053G>C | CA349405260 | TTN,TTN-AS1 | c.98734C>G (p.His32912Asp) c.79819C>G (p.His26607Asp) c.79618C>G (p.His26540Asp) c.79243C>G (p.His26415Asp) c.106438C>G (p.His35480Asp) c.101515C>G (p.His33839Asp) n.446+6417G>C n.220-5679G>C c.105535C>G (p.His35179Asp) c.79429C>G (p.His26477Asp) c.79288C>G (p.His26430Asp) c.105331C>G (p.His35111Asp) c.100729C>G (p.His33577Asp) c.100726C>G (p.His33576Asp) c.97768C>G (p.His32590Asp) c.79384C>G (p.His26462Asp) c.100879C>G (p.His33627Asp) c.100876C>G (p.His33626Asp) c.100309C>G (p.His33437Asp) c.97651C>G (p.His32551Asp) c.97570C>G (p.His32524Asp) c.79333C>G (p.His26445Asp) c.69187C>G (p.His23063Asp) | dbSNP gnomAD v2 |
2 | g.178530053G= | CA1310511396 | TTN,TTN-AS1 | c.98734C= (p.His32912=) c.79819C= (p.His26607=) c.79618C= (p.His26540=) c.79243C= (p.His26415=) c.106438C= (p.His35480=) c.101515C= (p.His33839=) n.446+6417G= n.220-5679G= c.105535C= (p.His35179=) c.79429C= (p.His26477=) c.79288C= (p.His26430=) c.105331C= (p.His35111=) c.100729C= (p.His33577=) c.100726C= (p.His33576=) c.97768C= (p.His32590=) c.79384C= (p.His26462=) c.100879C= (p.His33627=) c.100876C= (p.His33626=) c.100309C= (p.His33437=) c.97651C= (p.His32551=) c.97570C= (p.His32524=) c.79333C= (p.His26445=) c.69187C= (p.His23063=) | |
2 | g.178530053G>T | CA349405265 | TTN,TTN-AS1 | c.98734C>A (p.His32912Asn) c.79819C>A (p.His26607Asn) c.79618C>A (p.His26540Asn) c.79243C>A (p.His26415Asn) c.106438C>A (p.His35480Asn) c.101515C>A (p.His33839Asn) n.446+6417G>T n.220-5679G>T c.105535C>A (p.His35179Asn) c.79429C>A (p.His26477Asn) c.79288C>A (p.His26430Asn) c.105331C>A (p.His35111Asn) c.100729C>A (p.His33577Asn) c.100726C>A (p.His33576Asn) c.97768C>A (p.His32590Asn) c.79384C>A (p.His26462Asn) c.100879C>A (p.His33627Asn) c.100876C>A (p.His33626Asn) c.100309C>A (p.His33437Asn) c.97651C>A (p.His32551Asn) c.97570C>A (p.His32524Asn) c.79333C>A (p.His26445Asn) c.69187C>A (p.His23063Asn) | |
2 | g.178530054A>C | CA349405268 | TTN,TTN-AS1 | c.98733T>G (p.Ile32911Met) c.79818T>G (p.Ile26606Met) c.79617T>G (p.Ile26539Met) c.79242T>G (p.Ile26414Met) c.106437T>G (p.Ile35479Met) c.101514T>G (p.Ile33838Met) n.446+6418A>C n.220-5678A>C c.105534T>G (p.Ile35178Met) c.79428T>G (p.Ile26476Met) c.79287T>G (p.Ile26429Met) c.105330T>G (p.Ile35110Met) c.100728T>G (p.Ile33576Met) c.100725T>G (p.Ile33575Met) c.97767T>G (p.Ile32589Met) c.79383T>G (p.Ile26461Met) c.100878T>G (p.Ile33626Met) c.100875T>G (p.Ile33625Met) c.100308T>G (p.Ile33436Met) c.97650T>G (p.Ile32550Met) c.97569T>G (p.Ile32523Met) c.79332T>G (p.Ile26444Met) c.69186T>G (p.Ile23062Met) | |
2 | g.178530054A>G | CA430093891 | TTN,TTN-AS1 | c.98733T>C (p.Ile32911=) c.79818T>C (p.Ile26606=) c.79617T>C (p.Ile26539=) c.79242T>C (p.Ile26414=) c.106437T>C (p.Ile35479=) c.101514T>C (p.Ile33838=) n.446+6418A>G n.220-5678A>G c.105534T>C (p.Ile35178=) c.79428T>C (p.Ile26476=) c.79287T>C (p.Ile26429=) c.105330T>C (p.Ile35110=) c.100728T>C (p.Ile33576=) c.100725T>C (p.Ile33575=) c.97767T>C (p.Ile32589=) c.79383T>C (p.Ile26461=) c.100878T>C (p.Ile33626=) c.100875T>C (p.Ile33625=) c.100308T>C (p.Ile33436=) c.97650T>C (p.Ile32550=) c.97569T>C (p.Ile32523=) c.79332T>C (p.Ile26444=) c.69186T>C (p.Ile23062=) | |
2 | g.178530054A>T | CA430093892 | TTN,TTN-AS1 | c.98733T>A (p.Ile32911=) c.79818T>A (p.Ile26606=) c.79617T>A (p.Ile26539=) c.79242T>A (p.Ile26414=) c.106437T>A (p.Ile35479=) c.101514T>A (p.Ile33838=) n.446+6418A>T n.220-5678A>T c.105534T>A (p.Ile35178=) c.79428T>A (p.Ile26476=) c.79287T>A (p.Ile26429=) c.105330T>A (p.Ile35110=) c.100728T>A (p.Ile33576=) c.100725T>A (p.Ile33575=) c.97767T>A (p.Ile32589=) c.79383T>A (p.Ile26461=) c.100878T>A (p.Ile33626=) c.100875T>A (p.Ile33625=) c.100308T>A (p.Ile33436=) c.97650T>A (p.Ile32550=) c.97569T>A (p.Ile32523=) c.79332T>A (p.Ile26444=) c.69186T>A (p.Ile23062=) | |
2 | g.178530055A>C | CA349405275 | TTN,TTN-AS1 | c.98732T>G (p.Ile32911Ser) c.79817T>G (p.Ile26606Ser) c.79616T>G (p.Ile26539Ser) c.79241T>G (p.Ile26414Ser) c.106436T>G (p.Ile35479Ser) c.101513T>G (p.Ile33838Ser) n.446+6419A>C n.220-5677A>C c.105533T>G (p.Ile35178Ser) c.79427T>G (p.Ile26476Ser) c.79286T>G (p.Ile26429Ser) c.105329T>G (p.Ile35110Ser) c.100727T>G (p.Ile33576Ser) c.100724T>G (p.Ile33575Ser) c.97766T>G (p.Ile32589Ser) c.79382T>G (p.Ile26461Ser) c.100877T>G (p.Ile33626Ser) c.100874T>G (p.Ile33625Ser) c.100307T>G (p.Ile33436Ser) c.97649T>G (p.Ile32550Ser) c.97568T>G (p.Ile32523Ser) c.79331T>G (p.Ile26444Ser) c.69185T>G (p.Ile23062Ser) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530055A>G | CA349405270 | TTN,TTN-AS1 | c.98732T>C (p.Ile32911Thr) c.79817T>C (p.Ile26606Thr) c.79616T>C (p.Ile26539Thr) c.79241T>C (p.Ile26414Thr) c.106436T>C (p.Ile35479Thr) c.101513T>C (p.Ile33838Thr) n.446+6419A>G n.220-5677A>G c.105533T>C (p.Ile35178Thr) c.79427T>C (p.Ile26476Thr) c.79286T>C (p.Ile26429Thr) c.105329T>C (p.Ile35110Thr) c.100727T>C (p.Ile33576Thr) c.100724T>C (p.Ile33575Thr) c.97766T>C (p.Ile32589Thr) c.79382T>C (p.Ile26461Thr) c.100877T>C (p.Ile33626Thr) c.100874T>C (p.Ile33625Thr) c.100307T>C (p.Ile33436Thr) c.97649T>C (p.Ile32550Thr) c.97568T>C (p.Ile32523Thr) c.79331T>C (p.Ile26444Thr) c.69185T>C (p.Ile23062Thr) | |
2 | g.178530055A>T | CA349405273 | TTN,TTN-AS1 | c.98732T>A (p.Ile32911Asn) c.79817T>A (p.Ile26606Asn) c.79616T>A (p.Ile26539Asn) c.79241T>A (p.Ile26414Asn) c.106436T>A (p.Ile35479Asn) c.101513T>A (p.Ile33838Asn) n.446+6419A>T n.220-5677A>T c.105533T>A (p.Ile35178Asn) c.79427T>A (p.Ile26476Asn) c.79286T>A (p.Ile26429Asn) c.105329T>A (p.Ile35110Asn) c.100727T>A (p.Ile33576Asn) c.100724T>A (p.Ile33575Asn) c.97766T>A (p.Ile32589Asn) c.79382T>A (p.Ile26461Asn) c.100877T>A (p.Ile33626Asn) c.100874T>A (p.Ile33625Asn) c.100307T>A (p.Ile33436Asn) c.97649T>A (p.Ile32550Asn) c.97568T>A (p.Ile32523Asn) c.79331T>A (p.Ile26444Asn) c.69185T>A (p.Ile23062Asn) | |
2 | g.178530056T>A | CA349405278 | TTN,TTN-AS1 | c.98731A>T (p.Ile32911Phe) c.79816A>T (p.Ile26606Phe) c.79615A>T (p.Ile26539Phe) c.79240A>T (p.Ile26414Phe) c.106435A>T (p.Ile35479Phe) c.101512A>T (p.Ile33838Phe) n.446+6420T>A n.220-5676T>A c.105532A>T (p.Ile35178Phe) c.79426A>T (p.Ile26476Phe) c.79285A>T (p.Ile26429Phe) c.105328A>T (p.Ile35110Phe) c.100726A>T (p.Ile33576Phe) c.100723A>T (p.Ile33575Phe) c.97765A>T (p.Ile32589Phe) c.79381A>T (p.Ile26461Phe) c.100876A>T (p.Ile33626Phe) c.100873A>T (p.Ile33625Phe) c.100306A>T (p.Ile33436Phe) c.97648A>T (p.Ile32550Phe) c.97567A>T (p.Ile32523Phe) c.79330A>T (p.Ile26444Phe) c.69184A>T (p.Ile23062Phe) | |
2 | g.178530056T>C | CA349405280 | TTN,TTN-AS1 | c.98731A>G (p.Ile32911Val) c.79816A>G (p.Ile26606Val) c.79615A>G (p.Ile26539Val) c.79240A>G (p.Ile26414Val) c.106435A>G (p.Ile35479Val) c.101512A>G (p.Ile33838Val) n.446+6420T>C n.220-5676T>C c.105532A>G (p.Ile35178Val) c.79426A>G (p.Ile26476Val) c.79285A>G (p.Ile26429Val) c.105328A>G (p.Ile35110Val) c.100726A>G (p.Ile33576Val) c.100723A>G (p.Ile33575Val) c.97765A>G (p.Ile32589Val) c.79381A>G (p.Ile26461Val) c.100876A>G (p.Ile33626Val) c.100873A>G (p.Ile33625Val) c.100306A>G (p.Ile33436Val) c.97648A>G (p.Ile32550Val) c.97567A>G (p.Ile32523Val) c.79330A>G (p.Ile26444Val) c.69184A>G (p.Ile23062Val) | |
2 | g.178530056T>G | CA349405283 | TTN,TTN-AS1 | c.98731A>C (p.Ile32911Leu) c.79816A>C (p.Ile26606Leu) c.79615A>C (p.Ile26539Leu) c.79240A>C (p.Ile26414Leu) c.106435A>C (p.Ile35479Leu) c.101512A>C (p.Ile33838Leu) n.446+6420T>G n.220-5676T>G c.105532A>C (p.Ile35178Leu) c.79426A>C (p.Ile26476Leu) c.79285A>C (p.Ile26429Leu) c.105328A>C (p.Ile35110Leu) c.100726A>C (p.Ile33576Leu) c.100723A>C (p.Ile33575Leu) c.97765A>C (p.Ile32589Leu) c.79381A>C (p.Ile26461Leu) c.100876A>C (p.Ile33626Leu) c.100873A>C (p.Ile33625Leu) c.100306A>C (p.Ile33436Leu) c.97648A>C (p.Ile32550Leu) c.97567A>C (p.Ile32523Leu) c.79330A>C (p.Ile26444Leu) c.69184A>C (p.Ile23062Leu) | |
2 | g.178530057T>A | CA349405286 | TTN,TTN-AS1 | c.98730A>T (p.Glu32910Asp) c.79815A>T (p.Glu26605Asp) c.79614A>T (p.Glu26538Asp) c.79239A>T (p.Glu26413Asp) c.106434A>T (p.Glu35478Asp) c.101511A>T (p.Glu33837Asp) n.446+6421T>A n.220-5675T>A c.105531A>T (p.Glu35177Asp) c.79425A>T (p.Glu26475Asp) c.79284A>T (p.Glu26428Asp) c.105327A>T (p.Glu35109Asp) c.100725A>T (p.Glu33575Asp) c.100722A>T (p.Glu33574Asp) c.97764A>T (p.Glu32588Asp) c.79380A>T (p.Glu26460Asp) c.100875A>T (p.Glu33625Asp) c.100872A>T (p.Glu33624Asp) c.100305A>T (p.Glu33435Asp) c.97647A>T (p.Glu32549Asp) c.97566A>T (p.Glu32522Asp) c.79329A>T (p.Glu26443Asp) c.69183A>T (p.Glu23061Asp) | |
2 | g.178530057T>C | CA430093900 | TTN,TTN-AS1 | c.98730A>G (p.Glu32910=) c.79815A>G (p.Glu26605=) c.79614A>G (p.Glu26538=) c.79239A>G (p.Glu26413=) c.106434A>G (p.Glu35478=) c.101511A>G (p.Glu33837=) n.446+6421T>C n.220-5675T>C c.105531A>G (p.Glu35177=) c.79425A>G (p.Glu26475=) c.79284A>G (p.Glu26428=) c.105327A>G (p.Glu35109=) c.100725A>G (p.Glu33575=) c.100722A>G (p.Glu33574=) c.97764A>G (p.Glu32588=) c.79380A>G (p.Glu26460=) c.100875A>G (p.Glu33625=) c.100872A>G (p.Glu33624=) c.100305A>G (p.Glu33435=) c.97647A>G (p.Glu32549=) c.97566A>G (p.Glu32522=) c.79329A>G (p.Glu26443=) c.69183A>G (p.Glu23061=) | |
2 | g.178530057T>G | CA349405287 | TTN,TTN-AS1 | c.98730A>C (p.Glu32910Asp) c.79815A>C (p.Glu26605Asp) c.79614A>C (p.Glu26538Asp) c.79239A>C (p.Glu26413Asp) c.106434A>C (p.Glu35478Asp) c.101511A>C (p.Glu33837Asp) n.446+6421T>G n.220-5675T>G c.105531A>C (p.Glu35177Asp) c.79425A>C (p.Glu26475Asp) c.79284A>C (p.Glu26428Asp) c.105327A>C (p.Glu35109Asp) c.100725A>C (p.Glu33575Asp) c.100722A>C (p.Glu33574Asp) c.97764A>C (p.Glu32588Asp) c.79380A>C (p.Glu26460Asp) c.100875A>C (p.Glu33625Asp) c.100872A>C (p.Glu33624Asp) c.100305A>C (p.Glu33435Asp) c.97647A>C (p.Glu32549Asp) c.97566A>C (p.Glu32522Asp) c.79329A>C (p.Glu26443Asp) c.69183A>C (p.Glu23061Asp) | |
2 | g.178530058T>A | CA349405291 | TTN,TTN-AS1 | c.98729A>T (p.Glu32910Val) c.79814A>T (p.Glu26605Val) c.79613A>T (p.Glu26538Val) c.79238A>T (p.Glu26413Val) c.106433A>T (p.Glu35478Val) c.101510A>T (p.Glu33837Val) n.446+6422T>A n.220-5674T>A c.105530A>T (p.Glu35177Val) c.79424A>T (p.Glu26475Val) c.79283A>T (p.Glu26428Val) c.105326A>T (p.Glu35109Val) c.100724A>T (p.Glu33575Val) c.100721A>T (p.Glu33574Val) c.97763A>T (p.Glu32588Val) c.79379A>T (p.Glu26460Val) c.100874A>T (p.Glu33625Val) c.100871A>T (p.Glu33624Val) c.100304A>T (p.Glu33435Val) c.97646A>T (p.Glu32549Val) c.97565A>T (p.Glu32522Val) c.79328A>T (p.Glu26443Val) c.69182A>T (p.Glu23061Val) | |
2 | g.178530058T>C | CA349405292 | TTN,TTN-AS1 | c.98729A>G (p.Glu32910Gly) c.79814A>G (p.Glu26605Gly) c.79613A>G (p.Glu26538Gly) c.79238A>G (p.Glu26413Gly) c.106433A>G (p.Glu35478Gly) c.101510A>G (p.Glu33837Gly) n.446+6422T>C n.220-5674T>C c.105530A>G (p.Glu35177Gly) c.79424A>G (p.Glu26475Gly) c.79283A>G (p.Glu26428Gly) c.105326A>G (p.Glu35109Gly) c.100724A>G (p.Glu33575Gly) c.100721A>G (p.Glu33574Gly) c.97763A>G (p.Glu32588Gly) c.79379A>G (p.Glu26460Gly) c.100874A>G (p.Glu33625Gly) c.100871A>G (p.Glu33624Gly) c.100304A>G (p.Glu33435Gly) c.97646A>G (p.Glu32549Gly) c.97565A>G (p.Glu32522Gly) c.79328A>G (p.Glu26443Gly) c.69182A>G (p.Glu23061Gly) | |
2 | g.178530058T>G | CA349405295 | TTN,TTN-AS1 | c.98729A>C (p.Glu32910Ala) c.79814A>C (p.Glu26605Ala) c.79613A>C (p.Glu26538Ala) c.79238A>C (p.Glu26413Ala) c.106433A>C (p.Glu35478Ala) c.101510A>C (p.Glu33837Ala) n.446+6422T>G n.220-5674T>G c.105530A>C (p.Glu35177Ala) c.79424A>C (p.Glu26475Ala) c.79283A>C (p.Glu26428Ala) c.105326A>C (p.Glu35109Ala) c.100724A>C (p.Glu33575Ala) c.100721A>C (p.Glu33574Ala) c.97763A>C (p.Glu32588Ala) c.79379A>C (p.Glu26460Ala) c.100874A>C (p.Glu33625Ala) c.100871A>C (p.Glu33624Ala) c.100304A>C (p.Glu33435Ala) c.97646A>C (p.Glu32549Ala) c.97565A>C (p.Glu32522Ala) c.79328A>C (p.Glu26443Ala) c.69182A>C (p.Glu23061Ala) | |
2 | g.178530059C>A | CA349405300 | TTN,TTN-AS1 | c.98728G>T (p.Glu32910Ter) c.79813G>T (p.Glu26605Ter) c.79612G>T (p.Glu26538Ter) c.79237G>T (p.Glu26413Ter) c.106432G>T (p.Glu35478Ter) c.101509G>T (p.Glu33837Ter) n.446+6423C>A n.220-5673C>A c.105529G>T (p.Glu35177Ter) c.79423G>T (p.Glu26475Ter) c.79282G>T (p.Glu26428Ter) c.105325G>T (p.Glu35109Ter) c.100723G>T (p.Glu33575Ter) c.100720G>T (p.Glu33574Ter) c.97762G>T (p.Glu32588Ter) c.79378G>T (p.Glu26460Ter) c.100873G>T (p.Glu33625Ter) c.100870G>T (p.Glu33624Ter) c.100303G>T (p.Glu33435Ter) c.97645G>T (p.Glu32549Ter) c.97564G>T (p.Glu32522Ter) c.79327G>T (p.Glu26443Ter) c.69181G>T (p.Glu23061Ter) | |
2 | g.178530059C>G | CA349405299 | TTN,TTN-AS1 | c.98728G>C (p.Glu32910Gln) c.79813G>C (p.Glu26605Gln) c.79612G>C (p.Glu26538Gln) c.79237G>C (p.Glu26413Gln) c.106432G>C (p.Glu35478Gln) c.101509G>C (p.Glu33837Gln) n.446+6423C>G n.220-5673C>G c.105529G>C (p.Glu35177Gln) c.79423G>C (p.Glu26475Gln) c.79282G>C (p.Glu26428Gln) c.105325G>C (p.Glu35109Gln) c.100723G>C (p.Glu33575Gln) c.100720G>C (p.Glu33574Gln) c.97762G>C (p.Glu32588Gln) c.79378G>C (p.Glu26460Gln) c.100873G>C (p.Glu33625Gln) c.100870G>C (p.Glu33624Gln) c.100303G>C (p.Glu33435Gln) c.97645G>C (p.Glu32549Gln) c.97564G>C (p.Glu32522Gln) c.79327G>C (p.Glu26443Gln) c.69181G>C (p.Glu23061Gln) | |
2 | g.178530059C>T | CA349405296 | TTN,TTN-AS1 | c.98728G>A (p.Glu32910Lys) c.79813G>A (p.Glu26605Lys) c.79612G>A (p.Glu26538Lys) c.79237G>A (p.Glu26413Lys) c.106432G>A (p.Glu35478Lys) c.101509G>A (p.Glu33837Lys) n.446+6423C>T n.220-5673C>T c.105529G>A (p.Glu35177Lys) c.79423G>A (p.Glu26475Lys) c.79282G>A (p.Glu26428Lys) c.105325G>A (p.Glu35109Lys) c.100723G>A (p.Glu33575Lys) c.100720G>A (p.Glu33574Lys) c.97762G>A (p.Glu32588Lys) c.79378G>A (p.Glu26460Lys) c.100873G>A (p.Glu33625Lys) c.100870G>A (p.Glu33624Lys) c.100303G>A (p.Glu33435Lys) c.97645G>A (p.Glu32549Lys) c.97564G>A (p.Glu32522Lys) c.79327G>A (p.Glu26443Lys) c.69181G>A (p.Glu23061Lys) | |
2 | g.178530060T>A | CA349405303 | TTN,TTN-AS1 | c.98727A>T (p.Leu32909Phe) c.79812A>T (p.Leu26604Phe) c.79611A>T (p.Leu26537Phe) c.79236A>T (p.Leu26412Phe) c.106431A>T (p.Leu35477Phe) c.101508A>T (p.Leu33836Phe) n.446+6424T>A n.220-5672T>A c.105528A>T (p.Leu35176Phe) c.79422A>T (p.Leu26474Phe) c.79281A>T (p.Leu26427Phe) c.105324A>T (p.Leu35108Phe) c.100722A>T (p.Leu33574Phe) c.100719A>T (p.Leu33573Phe) c.97761A>T (p.Leu32587Phe) c.79377A>T (p.Leu26459Phe) c.100872A>T (p.Leu33624Phe) c.100869A>T (p.Leu33623Phe) c.100302A>T (p.Leu33434Phe) c.97644A>T (p.Leu32548Phe) c.97563A>T (p.Leu32521Phe) c.79326A>T (p.Leu26442Phe) c.69180A>T (p.Leu23060Phe) | |
2 | g.178530060T>C | CA430093909 | TTN,TTN-AS1 | c.98727A>G (p.Leu32909=) c.79812A>G (p.Leu26604=) c.79611A>G (p.Leu26537=) c.79236A>G (p.Leu26412=) c.106431A>G (p.Leu35477=) c.101508A>G (p.Leu33836=) n.446+6424T>C n.220-5672T>C c.105528A>G (p.Leu35176=) c.79422A>G (p.Leu26474=) c.79281A>G (p.Leu26427=) c.105324A>G (p.Leu35108=) c.100722A>G (p.Leu33574=) c.100719A>G (p.Leu33573=) c.97761A>G (p.Leu32587=) c.79377A>G (p.Leu26459=) c.100872A>G (p.Leu33624=) c.100869A>G (p.Leu33623=) c.100302A>G (p.Leu33434=) c.97644A>G (p.Leu32548=) c.97563A>G (p.Leu32521=) c.79326A>G (p.Leu26442=) c.69180A>G (p.Leu23060=) | ClinVar dbSNP |
2 | g.178530060T>G | CA349405304 | TTN,TTN-AS1 | c.98727A>C (p.Leu32909Phe) c.79812A>C (p.Leu26604Phe) c.79611A>C (p.Leu26537Phe) c.79236A>C (p.Leu26412Phe) c.106431A>C (p.Leu35477Phe) c.101508A>C (p.Leu33836Phe) n.446+6424T>G n.220-5672T>G c.105528A>C (p.Leu35176Phe) c.79422A>C (p.Leu26474Phe) c.79281A>C (p.Leu26427Phe) c.105324A>C (p.Leu35108Phe) c.100722A>C (p.Leu33574Phe) c.100719A>C (p.Leu33573Phe) c.97761A>C (p.Leu32587Phe) c.79377A>C (p.Leu26459Phe) c.100872A>C (p.Leu33624Phe) c.100869A>C (p.Leu33623Phe) c.100302A>C (p.Leu33434Phe) c.97644A>C (p.Leu32548Phe) c.97563A>C (p.Leu32521Phe) c.79326A>C (p.Leu26442Phe) c.69180A>C (p.Leu23060Phe) | |
2 | g.178530061A= | CA1310511399 | TTN,TTN-AS1 | c.98726T= (p.Leu32909=) c.79811T= (p.Leu26604=) c.79610T= (p.Leu26537=) c.79235T= (p.Leu26412=) c.106430T= (p.Leu35477=) c.101507T= (p.Leu33836=) n.446+6425A= n.220-5671A= c.105527T= (p.Leu35176=) c.79421T= (p.Leu26474=) c.79280T= (p.Leu26427=) c.105323T= (p.Leu35108=) c.100721T= (p.Leu33574=) c.100718T= (p.Leu33573=) c.97760T= (p.Leu32587=) c.79376T= (p.Leu26459=) c.100871T= (p.Leu33624=) c.100868T= (p.Leu33623=) c.100301T= (p.Leu33434=) c.97643T= (p.Leu32548=) c.97562T= (p.Leu32521=) c.79325T= (p.Leu26442=) c.69179T= (p.Leu23060=) | |
2 | g.178530061A>C | CA349405307 | TTN,TTN-AS1 | c.98726T>G (p.Leu32909Ter) c.79811T>G (p.Leu26604Ter) c.79610T>G (p.Leu26537Ter) c.79235T>G (p.Leu26412Ter) c.106430T>G (p.Leu35477Ter) c.101507T>G (p.Leu33836Ter) n.446+6425A>C n.220-5671A>C c.105527T>G (p.Leu35176Ter) c.79421T>G (p.Leu26474Ter) c.79280T>G (p.Leu26427Ter) c.105323T>G (p.Leu35108Ter) c.100721T>G (p.Leu33574Ter) c.100718T>G (p.Leu33573Ter) c.97760T>G (p.Leu32587Ter) c.79376T>G (p.Leu26459Ter) c.100871T>G (p.Leu33624Ter) c.100868T>G (p.Leu33623Ter) c.100301T>G (p.Leu33434Ter) c.97643T>G (p.Leu32548Ter) c.97562T>G (p.Leu32521Ter) c.79325T>G (p.Leu26442Ter) c.69179T>G (p.Leu23060Ter) | |
2 | g.178530061A>G | CA349405308 | TTN,TTN-AS1 | c.98726T>C (p.Leu32909Ser) c.79811T>C (p.Leu26604Ser) c.79610T>C (p.Leu26537Ser) c.79235T>C (p.Leu26412Ser) c.106430T>C (p.Leu35477Ser) c.101507T>C (p.Leu33836Ser) n.446+6425A>G n.220-5671A>G c.105527T>C (p.Leu35176Ser) c.79421T>C (p.Leu26474Ser) c.79280T>C (p.Leu26427Ser) c.105323T>C (p.Leu35108Ser) c.100721T>C (p.Leu33574Ser) c.100718T>C (p.Leu33573Ser) c.97760T>C (p.Leu32587Ser) c.79376T>C (p.Leu26459Ser) c.100871T>C (p.Leu33624Ser) c.100868T>C (p.Leu33623Ser) c.100301T>C (p.Leu33434Ser) c.97643T>C (p.Leu32548Ser) c.97562T>C (p.Leu32521Ser) c.79325T>C (p.Leu26442Ser) c.69179T>C (p.Leu23060Ser) | |
2 | g.178530061A>T | CA349405310 | TTN,TTN-AS1 | c.98726T>A (p.Leu32909Ter) c.79811T>A (p.Leu26604Ter) c.79610T>A (p.Leu26537Ter) c.79235T>A (p.Leu26412Ter) c.106430T>A (p.Leu35477Ter) c.101507T>A (p.Leu33836Ter) n.446+6425A>T n.220-5671A>T c.105527T>A (p.Leu35176Ter) c.79421T>A (p.Leu26474Ter) c.79280T>A (p.Leu26427Ter) c.105323T>A (p.Leu35108Ter) c.100721T>A (p.Leu33574Ter) c.100718T>A (p.Leu33573Ter) c.97760T>A (p.Leu32587Ter) c.79376T>A (p.Leu26459Ter) c.100871T>A (p.Leu33624Ter) c.100868T>A (p.Leu33623Ter) c.100301T>A (p.Leu33434Ter) c.97643T>A (p.Leu32548Ter) c.97562T>A (p.Leu32521Ter) c.79325T>A (p.Leu26442Ter) c.69179T>A (p.Leu23060Ter) | |
2 | g.178530061_178530062insTG | CA538090272 | TTN,TTN-AS1 | c.98725_98726insCA (p.Leu32909SerfsTer2) c.79810_79811insCA (p.Leu26604SerfsTer2) c.79609_79610insCA (p.Leu26537SerfsTer2) c.79234_79235insCA (p.Leu26412SerfsTer2) c.106429_106430insCA (p.Leu35477SerfsTer2) c.101506_101507insCA (p.Leu33836SerfsTer2) n.446+6425_446+6426insTG n.220-5671_220-5670insTG c.105526_105527insCA (p.Leu35176SerfsTer2) c.79420_79421insCA (p.Leu26474SerfsTer2) c.79279_79280insCA (p.Leu26427SerfsTer2) c.105322_105323insCA (p.Leu35108SerfsTer2) c.100720_100721insCA (p.Leu33574SerfsTer2) c.100717_100718insCA (p.Leu33573SerfsTer2) c.97759_97760insCA (p.Leu32587SerfsTer2) c.79375_79376insCA (p.Leu26459SerfsTer2) c.100870_100871insCA (p.Leu33624SerfsTer2) c.100867_100868insCA (p.Leu33623SerfsTer2) c.100300_100301insCA (p.Leu33434SerfsTer2) c.97642_97643insCA (p.Leu32548SerfsTer2) c.97561_97562insCA (p.Leu32521SerfsTer2) c.79324_79325insCA (p.Leu26442SerfsTer2) c.69178_69179insCA (p.Leu23060SerfsTer2) | dbSNP gnomAD v2 |
2 | g.178530062A>C | CA349405312 | TTN,TTN-AS1 | c.98725T>G (p.Leu32909Val) c.79810T>G (p.Leu26604Val) c.79609T>G (p.Leu26537Val) c.79234T>G (p.Leu26412Val) c.106429T>G (p.Leu35477Val) c.101506T>G (p.Leu33836Val) n.446+6426A>C n.220-5670A>C c.105526T>G (p.Leu35176Val) c.79420T>G (p.Leu26474Val) c.79279T>G (p.Leu26427Val) c.105322T>G (p.Leu35108Val) c.100720T>G (p.Leu33574Val) c.100717T>G (p.Leu33573Val) c.97759T>G (p.Leu32587Val) c.79375T>G (p.Leu26459Val) c.100870T>G (p.Leu33624Val) c.100867T>G (p.Leu33623Val) c.100300T>G (p.Leu33434Val) c.97642T>G (p.Leu32548Val) c.97561T>G (p.Leu32521Val) c.79324T>G (p.Leu26442Val) c.69178T>G (p.Leu23060Val) | |
2 | g.178530062A>G | CA430093916 | TTN,TTN-AS1 | c.98725T>C (p.Leu32909=) c.79810T>C (p.Leu26604=) c.79609T>C (p.Leu26537=) c.79234T>C (p.Leu26412=) c.106429T>C (p.Leu35477=) c.101506T>C (p.Leu33836=) n.446+6426A>G n.220-5670A>G c.105526T>C (p.Leu35176=) c.79420T>C (p.Leu26474=) c.79279T>C (p.Leu26427=) c.105322T>C (p.Leu35108=) c.100720T>C (p.Leu33574=) c.100717T>C (p.Leu33573=) c.97759T>C (p.Leu32587=) c.79375T>C (p.Leu26459=) c.100870T>C (p.Leu33624=) c.100867T>C (p.Leu33623=) c.100300T>C (p.Leu33434=) c.97642T>C (p.Leu32548=) c.97561T>C (p.Leu32521=) c.79324T>C (p.Leu26442=) c.69178T>C (p.Leu23060=) | |
2 | g.178530062A>T | CA349405314 | TTN,TTN-AS1 | c.98725T>A (p.Leu32909Ile) c.79810T>A (p.Leu26604Ile) c.79609T>A (p.Leu26537Ile) c.79234T>A (p.Leu26412Ile) c.106429T>A (p.Leu35477Ile) c.101506T>A (p.Leu33836Ile) n.446+6426A>T n.220-5670A>T c.105526T>A (p.Leu35176Ile) c.79420T>A (p.Leu26474Ile) c.79279T>A (p.Leu26427Ile) c.105322T>A (p.Leu35108Ile) c.100720T>A (p.Leu33574Ile) c.100717T>A (p.Leu33573Ile) c.97759T>A (p.Leu32587Ile) c.79375T>A (p.Leu26459Ile) c.100870T>A (p.Leu33624Ile) c.100867T>A (p.Leu33623Ile) c.100300T>A (p.Leu33434Ile) c.97642T>A (p.Leu32548Ile) c.97561T>A (p.Leu32521Ile) c.79324T>A (p.Leu26442Ile) c.69178T>A (p.Leu23060Ile) | |
2 | g.178530063G>A | CA430093917 | TTN,TTN-AS1 | c.98724C>T (p.Phe32908=) c.79809C>T (p.Phe26603=) c.79608C>T (p.Phe26536=) c.79233C>T (p.Phe26411=) c.106428C>T (p.Phe35476=) c.101505C>T (p.Phe33835=) n.446+6427G>A n.220-5669G>A c.105525C>T (p.Phe35175=) c.79419C>T (p.Phe26473=) c.79278C>T (p.Phe26426=) c.105321C>T (p.Phe35107=) c.100719C>T (p.Phe33573=) c.100716C>T (p.Phe33572=) c.97758C>T (p.Phe32586=) c.79374C>T (p.Phe26458=) c.100869C>T (p.Phe33623=) c.100866C>T (p.Phe33622=) c.100299C>T (p.Phe33433=) c.97641C>T (p.Phe32547=) c.97560C>T (p.Phe32520=) c.79323C>T (p.Phe26441=) c.69177C>T (p.Phe23059=) | |
2 | g.178530063G>C | CA349405317 | TTN,TTN-AS1 | c.98724C>G (p.Phe32908Leu) c.79809C>G (p.Phe26603Leu) c.79608C>G (p.Phe26536Leu) c.79233C>G (p.Phe26411Leu) c.106428C>G (p.Phe35476Leu) c.101505C>G (p.Phe33835Leu) n.446+6427G>C n.220-5669G>C c.105525C>G (p.Phe35175Leu) c.79419C>G (p.Phe26473Leu) c.79278C>G (p.Phe26426Leu) c.105321C>G (p.Phe35107Leu) c.100719C>G (p.Phe33573Leu) c.100716C>G (p.Phe33572Leu) c.97758C>G (p.Phe32586Leu) c.79374C>G (p.Phe26458Leu) c.100869C>G (p.Phe33623Leu) c.100866C>G (p.Phe33622Leu) c.100299C>G (p.Phe33433Leu) c.97641C>G (p.Phe32547Leu) c.97560C>G (p.Phe32520Leu) c.79323C>G (p.Phe26441Leu) c.69177C>G (p.Phe23059Leu) | |
2 | g.178530063G= | CA1310511403 | TTN,TTN-AS1 | c.98724C= (p.Phe32908=) c.79809C= (p.Phe26603=) c.79608C= (p.Phe26536=) c.79233C= (p.Phe26411=) c.106428C= (p.Phe35476=) c.101505C= (p.Phe33835=) n.446+6427G= n.220-5669G= c.105525C= (p.Phe35175=) c.79419C= (p.Phe26473=) c.79278C= (p.Phe26426=) c.105321C= (p.Phe35107=) c.100719C= (p.Phe33573=) c.100716C= (p.Phe33572=) c.97758C= (p.Phe32586=) c.79374C= (p.Phe26458=) c.100869C= (p.Phe33623=) c.100866C= (p.Phe33622=) c.100299C= (p.Phe33433=) c.97641C= (p.Phe32547=) c.97560C= (p.Phe32520=) c.79323C= (p.Phe26441=) c.69177C= (p.Phe23059=) | |
2 | g.178530063G>T | CA349405324 | TTN,TTN-AS1 | c.98724C>A (p.Phe32908Leu) c.79809C>A (p.Phe26603Leu) c.79608C>A (p.Phe26536Leu) c.79233C>A (p.Phe26411Leu) c.106428C>A (p.Phe35476Leu) c.101505C>A (p.Phe33835Leu) n.446+6427G>T n.220-5669G>T c.105525C>A (p.Phe35175Leu) c.79419C>A (p.Phe26473Leu) c.79278C>A (p.Phe26426Leu) c.105321C>A (p.Phe35107Leu) c.100719C>A (p.Phe33573Leu) c.100716C>A (p.Phe33572Leu) c.97758C>A (p.Phe32586Leu) c.79374C>A (p.Phe26458Leu) c.100869C>A (p.Phe33623Leu) c.100866C>A (p.Phe33622Leu) c.100299C>A (p.Phe33433Leu) c.97641C>A (p.Phe32547Leu) c.97560C>A (p.Phe32520Leu) c.79323C>A (p.Phe26441Leu) c.69177C>A (p.Phe23059Leu) | |
2 | g.178530063_178530064insCATAAAAAGCAGTTATT | CA2546752935 | TTN,TTN-AS1 | c.98723_98724insAATAACTGCTTTTTATG (p.Phe32908LeufsTer8) c.79808_79809insAATAACTGCTTTTTATG (p.Phe26603LeufsTer8) c.79607_79608insAATAACTGCTTTTTATG (p.Phe26536LeufsTer8) c.79232_79233insAATAACTGCTTTTTATG (p.Phe26411LeufsTer8) c.106427_106428insAATAACTGCTTTTTATG (p.Phe35476LeufsTer8) c.101504_101505insAATAACTGCTTTTTATG (p.Phe33835LeufsTer8) n.446+6427_446+6428insCATAAAAAGCAGTTATT n.220-5669_220-5668insCATAAAAAGCAGTTATT c.105524_105525insAATAACTGCTTTTTATG (p.Phe35175LeufsTer8) c.79418_79419insAATAACTGCTTTTTATG (p.Phe26473LeufsTer8) c.79277_79278insAATAACTGCTTTTTATG (p.Phe26426LeufsTer8) c.105320_105321insAATAACTGCTTTTTATG (p.Phe35107LeufsTer8) c.100718_100719insAATAACTGCTTTTTATG (p.Phe33573LeufsTer8) c.100715_100716insAATAACTGCTTTTTATG (p.Phe33572LeufsTer8) c.97757_97758insAATAACTGCTTTTTATG (p.Phe32586LeufsTer8) c.79373_79374insAATAACTGCTTTTTATG (p.Phe26458LeufsTer8) c.100868_100869insAATAACTGCTTTTTATG (p.Phe33623LeufsTer8) c.100865_100866insAATAACTGCTTTTTATG (p.Phe33622LeufsTer8) c.100298_100299insAATAACTGCTTTTTATG (p.Phe33433LeufsTer8) c.97640_97641insAATAACTGCTTTTTATG (p.Phe32547LeufsTer8) c.97559_97560insAATAACTGCTTTTTATG (p.Phe32520LeufsTer8) c.79322_79323insAATAACTGCTTTTTATG (p.Phe26441LeufsTer8) c.69176_69177insAATAACTGCTTTTTATG (p.Phe23059LeufsTer8) | |
2 | g.178530064A>C | CA349405327 | TTN,TTN-AS1 | c.98723T>G (p.Phe32908Cys) c.79808T>G (p.Phe26603Cys) c.79607T>G (p.Phe26536Cys) c.79232T>G (p.Phe26411Cys) c.106427T>G (p.Phe35476Cys) c.101504T>G (p.Phe33835Cys) n.446+6428A>C n.220-5668A>C c.105524T>G (p.Phe35175Cys) c.79418T>G (p.Phe26473Cys) c.79277T>G (p.Phe26426Cys) c.105320T>G (p.Phe35107Cys) c.100718T>G (p.Phe33573Cys) c.100715T>G (p.Phe33572Cys) c.97757T>G (p.Phe32586Cys) c.79373T>G (p.Phe26458Cys) c.100868T>G (p.Phe33623Cys) c.100865T>G (p.Phe33622Cys) c.100298T>G (p.Phe33433Cys) c.97640T>G (p.Phe32547Cys) c.97559T>G (p.Phe32520Cys) c.79322T>G (p.Phe26441Cys) c.69176T>G (p.Phe23059Cys) | |
2 | g.178530064A>G | CA349405329 | TTN,TTN-AS1 | c.98723T>C (p.Phe32908Ser) c.79808T>C (p.Phe26603Ser) c.79607T>C (p.Phe26536Ser) c.79232T>C (p.Phe26411Ser) c.106427T>C (p.Phe35476Ser) c.101504T>C (p.Phe33835Ser) n.446+6428A>G n.220-5668A>G c.105524T>C (p.Phe35175Ser) c.79418T>C (p.Phe26473Ser) c.79277T>C (p.Phe26426Ser) c.105320T>C (p.Phe35107Ser) c.100718T>C (p.Phe33573Ser) c.100715T>C (p.Phe33572Ser) c.97757T>C (p.Phe32586Ser) c.79373T>C (p.Phe26458Ser) c.100868T>C (p.Phe33623Ser) c.100865T>C (p.Phe33622Ser) c.100298T>C (p.Phe33433Ser) c.97640T>C (p.Phe32547Ser) c.97559T>C (p.Phe32520Ser) c.79322T>C (p.Phe26441Ser) c.69176T>C (p.Phe23059Ser) | |
2 | g.178530064A>T | CA349405332 | TTN,TTN-AS1 | c.98723T>A (p.Phe32908Tyr) c.79808T>A (p.Phe26603Tyr) c.79607T>A (p.Phe26536Tyr) c.79232T>A (p.Phe26411Tyr) c.106427T>A (p.Phe35476Tyr) c.101504T>A (p.Phe33835Tyr) n.446+6428A>T n.220-5668A>T c.105524T>A (p.Phe35175Tyr) c.79418T>A (p.Phe26473Tyr) c.79277T>A (p.Phe26426Tyr) c.105320T>A (p.Phe35107Tyr) c.100718T>A (p.Phe33573Tyr) c.100715T>A (p.Phe33572Tyr) c.97757T>A (p.Phe32586Tyr) c.79373T>A (p.Phe26458Tyr) c.100868T>A (p.Phe33623Tyr) c.100865T>A (p.Phe33622Tyr) c.100298T>A (p.Phe33433Tyr) c.97640T>A (p.Phe32547Tyr) c.97559T>A (p.Phe32520Tyr) c.79322T>A (p.Phe26441Tyr) c.69176T>A (p.Phe23059Tyr) | |
2 | g.178530065dup | CA538090273 | TTN,TTN-AS1 | c.98723dup (p.Glu32910ArgfsTer4) c.79808dup (p.Glu26605ArgfsTer4) c.79607dup (p.Glu26538ArgfsTer4) c.79232dup (p.Glu26413ArgfsTer4) c.106427dup (p.Glu35478ArgfsTer4) c.101504dup (p.Glu33837ArgfsTer4) n.446+6429dup n.220-5667dup c.105524dup (p.Glu35177ArgfsTer4) c.79418dup (p.Glu26475ArgfsTer4) c.79277dup (p.Glu26428ArgfsTer4) c.105320dup (p.Glu35109ArgfsTer4) c.100718dup (p.Glu33575ArgfsTer4) c.100715dup (p.Glu33574ArgfsTer4) c.97757dup (p.Glu32588ArgfsTer4) c.79373dup (p.Glu26460ArgfsTer4) c.100868dup (p.Glu33625ArgfsTer4) c.100865dup (p.Glu33624ArgfsTer4) c.100298dup (p.Glu33435ArgfsTer4) c.97640dup (p.Glu32549ArgfsTer4) c.97559dup (p.Glu32522ArgfsTer4) c.79322dup (p.Glu26443ArgfsTer4) c.69176dup (p.Glu23061ArgfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530065A>C | CA349405336 | TTN,TTN-AS1 | c.98722T>G (p.Phe32908Val) c.79807T>G (p.Phe26603Val) c.79606T>G (p.Phe26536Val) c.79231T>G (p.Phe26411Val) c.106426T>G (p.Phe35476Val) c.101503T>G (p.Phe33835Val) n.446+6429A>C n.220-5667A>C c.105523T>G (p.Phe35175Val) c.79417T>G (p.Phe26473Val) c.79276T>G (p.Phe26426Val) c.105319T>G (p.Phe35107Val) c.100717T>G (p.Phe33573Val) c.100714T>G (p.Phe33572Val) c.97756T>G (p.Phe32586Val) c.79372T>G (p.Phe26458Val) c.100867T>G (p.Phe33623Val) c.100864T>G (p.Phe33622Val) c.100297T>G (p.Phe33433Val) c.97639T>G (p.Phe32547Val) c.97558T>G (p.Phe32520Val) c.79321T>G (p.Phe26441Val) c.69175T>G (p.Phe23059Val) | |
2 | g.178530065A>G | CA349405339 | TTN,TTN-AS1 | c.98722T>C (p.Phe32908Leu) c.79807T>C (p.Phe26603Leu) c.79606T>C (p.Phe26536Leu) c.79231T>C (p.Phe26411Leu) c.106426T>C (p.Phe35476Leu) c.101503T>C (p.Phe33835Leu) n.446+6429A>G n.220-5667A>G c.105523T>C (p.Phe35175Leu) c.79417T>C (p.Phe26473Leu) c.79276T>C (p.Phe26426Leu) c.105319T>C (p.Phe35107Leu) c.100717T>C (p.Phe33573Leu) c.100714T>C (p.Phe33572Leu) c.97756T>C (p.Phe32586Leu) c.79372T>C (p.Phe26458Leu) c.100867T>C (p.Phe33623Leu) c.100864T>C (p.Phe33622Leu) c.100297T>C (p.Phe33433Leu) c.97639T>C (p.Phe32547Leu) c.97558T>C (p.Phe32520Leu) c.79321T>C (p.Phe26441Leu) c.69175T>C (p.Phe23059Leu) | gnomAD v4 |
2 | g.178530065A>T | CA349405334 | TTN,TTN-AS1 | c.98722T>A (p.Phe32908Ile) c.79807T>A (p.Phe26603Ile) c.79606T>A (p.Phe26536Ile) c.79231T>A (p.Phe26411Ile) c.106426T>A (p.Phe35476Ile) c.101503T>A (p.Phe33835Ile) n.446+6429A>T n.220-5667A>T c.105523T>A (p.Phe35175Ile) c.79417T>A (p.Phe26473Ile) c.79276T>A (p.Phe26426Ile) c.105319T>A (p.Phe35107Ile) c.100717T>A (p.Phe33573Ile) c.100714T>A (p.Phe33572Ile) c.97756T>A (p.Phe32586Ile) c.79372T>A (p.Phe26458Ile) c.100867T>A (p.Phe33623Ile) c.100864T>A (p.Phe33622Ile) c.100297T>A (p.Phe33433Ile) c.97639T>A (p.Phe32547Ile) c.97558T>A (p.Phe32520Ile) c.79321T>A (p.Phe26441Ile) c.69175T>A (p.Phe23059Ile) | |
2 | g.178530066G>A | CA430093926 | TTN,TTN-AS1 | c.98721C>T (p.Phe32907=) c.79806C>T (p.Phe26602=) c.79605C>T (p.Phe26535=) c.79230C>T (p.Phe26410=) c.106425C>T (p.Phe35475=) c.101502C>T (p.Phe33834=) n.446+6430G>A n.220-5666G>A c.105522C>T (p.Phe35174=) c.79416C>T (p.Phe26472=) c.79275C>T (p.Phe26425=) c.105318C>T (p.Phe35106=) c.100716C>T (p.Phe33572=) c.100713C>T (p.Phe33571=) c.97755C>T (p.Phe32585=) c.79371C>T (p.Phe26457=) c.100866C>T (p.Phe33622=) c.100863C>T (p.Phe33621=) c.100296C>T (p.Phe33432=) c.97638C>T (p.Phe32546=) c.97557C>T (p.Phe32519=) c.79320C>T (p.Phe26440=) c.69174C>T (p.Phe23058=) | ClinVar dbSNP |
2 | g.178530066G>C | CA349405343 | TTN,TTN-AS1 | c.98721C>G (p.Phe32907Leu) c.79806C>G (p.Phe26602Leu) c.79605C>G (p.Phe26535Leu) c.79230C>G (p.Phe26410Leu) c.106425C>G (p.Phe35475Leu) c.101502C>G (p.Phe33834Leu) n.446+6430G>C n.220-5666G>C c.105522C>G (p.Phe35174Leu) c.79416C>G (p.Phe26472Leu) c.79275C>G (p.Phe26425Leu) c.105318C>G (p.Phe35106Leu) c.100716C>G (p.Phe33572Leu) c.100713C>G (p.Phe33571Leu) c.97755C>G (p.Phe32585Leu) c.79371C>G (p.Phe26457Leu) c.100866C>G (p.Phe33622Leu) c.100863C>G (p.Phe33621Leu) c.100296C>G (p.Phe33432Leu) c.97638C>G (p.Phe32546Leu) c.97557C>G (p.Phe32519Leu) c.79320C>G (p.Phe26440Leu) c.69174C>G (p.Phe23058Leu) | |
2 | g.178530066G= | CA1310511409 | TTN,TTN-AS1 | c.98721C= (p.Phe32907=) c.79806C= (p.Phe26602=) c.79605C= (p.Phe26535=) c.79230C= (p.Phe26410=) c.106425C= (p.Phe35475=) c.101502C= (p.Phe33834=) n.446+6430G= n.220-5666G= c.105522C= (p.Phe35174=) c.79416C= (p.Phe26472=) c.79275C= (p.Phe26425=) c.105318C= (p.Phe35106=) c.100716C= (p.Phe33572=) c.100713C= (p.Phe33571=) c.97755C= (p.Phe32585=) c.79371C= (p.Phe26457=) c.100866C= (p.Phe33622=) c.100863C= (p.Phe33621=) c.100296C= (p.Phe33432=) c.97638C= (p.Phe32546=) c.97557C= (p.Phe32519=) c.79320C= (p.Phe26440=) c.69174C= (p.Phe23058=) | |
2 | g.178530066G>T | CA349405345 | TTN,TTN-AS1 | c.98721C>A (p.Phe32907Leu) c.79806C>A (p.Phe26602Leu) c.79605C>A (p.Phe26535Leu) c.79230C>A (p.Phe26410Leu) c.106425C>A (p.Phe35475Leu) c.101502C>A (p.Phe33834Leu) n.446+6430G>T n.220-5666G>T c.105522C>A (p.Phe35174Leu) c.79416C>A (p.Phe26472Leu) c.79275C>A (p.Phe26425Leu) c.105318C>A (p.Phe35106Leu) c.100716C>A (p.Phe33572Leu) c.100713C>A (p.Phe33571Leu) c.97755C>A (p.Phe32585Leu) c.79371C>A (p.Phe26457Leu) c.100866C>A (p.Phe33622Leu) c.100863C>A (p.Phe33621Leu) c.100296C>A (p.Phe33432Leu) c.97638C>A (p.Phe32546Leu) c.97557C>A (p.Phe32519Leu) c.79320C>A (p.Phe26440Leu) c.69174C>A (p.Phe23058Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530067A>C | CA349405350 | TTN,TTN-AS1 | c.98720T>G (p.Phe32907Cys) c.79805T>G (p.Phe26602Cys) c.79604T>G (p.Phe26535Cys) c.79229T>G (p.Phe26410Cys) c.106424T>G (p.Phe35475Cys) c.101501T>G (p.Phe33834Cys) n.446+6431A>C n.220-5665A>C c.105521T>G (p.Phe35174Cys) c.79415T>G (p.Phe26472Cys) c.79274T>G (p.Phe26425Cys) c.105317T>G (p.Phe35106Cys) c.100715T>G (p.Phe33572Cys) c.100712T>G (p.Phe33571Cys) c.97754T>G (p.Phe32585Cys) c.79370T>G (p.Phe26457Cys) c.100865T>G (p.Phe33622Cys) c.100862T>G (p.Phe33621Cys) c.100295T>G (p.Phe33432Cys) c.97637T>G (p.Phe32546Cys) c.97556T>G (p.Phe32519Cys) c.79319T>G (p.Phe26440Cys) c.69173T>G (p.Phe23058Cys) | gnomAD v4 |
2 | g.178530067A>G | CA349405351 | TTN,TTN-AS1 | c.98720T>C (p.Phe32907Ser) c.79805T>C (p.Phe26602Ser) c.79604T>C (p.Phe26535Ser) c.79229T>C (p.Phe26410Ser) c.106424T>C (p.Phe35475Ser) c.101501T>C (p.Phe33834Ser) n.446+6431A>G n.220-5665A>G c.105521T>C (p.Phe35174Ser) c.79415T>C (p.Phe26472Ser) c.79274T>C (p.Phe26425Ser) c.105317T>C (p.Phe35106Ser) c.100715T>C (p.Phe33572Ser) c.100712T>C (p.Phe33571Ser) c.97754T>C (p.Phe32585Ser) c.79370T>C (p.Phe26457Ser) c.100865T>C (p.Phe33622Ser) c.100862T>C (p.Phe33621Ser) c.100295T>C (p.Phe33432Ser) c.97637T>C (p.Phe32546Ser) c.97556T>C (p.Phe32519Ser) c.79319T>C (p.Phe26440Ser) c.69173T>C (p.Phe23058Ser) | |
2 | g.178530067A>T | CA349405354 | TTN,TTN-AS1 | c.98720T>A (p.Phe32907Tyr) c.79805T>A (p.Phe26602Tyr) c.79604T>A (p.Phe26535Tyr) c.79229T>A (p.Phe26410Tyr) c.106424T>A (p.Phe35475Tyr) c.101501T>A (p.Phe33834Tyr) n.446+6431A>T n.220-5665A>T c.105521T>A (p.Phe35174Tyr) c.79415T>A (p.Phe26472Tyr) c.79274T>A (p.Phe26425Tyr) c.105317T>A (p.Phe35106Tyr) c.100715T>A (p.Phe33572Tyr) c.100712T>A (p.Phe33571Tyr) c.97754T>A (p.Phe32585Tyr) c.79370T>A (p.Phe26457Tyr) c.100865T>A (p.Phe33622Tyr) c.100862T>A (p.Phe33621Tyr) c.100295T>A (p.Phe33432Tyr) c.97637T>A (p.Phe32546Tyr) c.97556T>A (p.Phe32519Tyr) c.79319T>A (p.Phe26440Tyr) c.69173T>A (p.Phe23058Tyr) | |
2 | g.178530068A= | CA1310511413 | TTN,TTN-AS1 | c.98719T= (p.Phe32907=) c.79804T= (p.Phe26602=) c.79603T= (p.Phe26535=) c.79228T= (p.Phe26410=) c.106423T= (p.Phe35475=) c.101500T= (p.Phe33834=) n.446+6432A= n.220-5664A= c.105520T= (p.Phe35174=) c.79414T= (p.Phe26472=) c.79273T= (p.Phe26425=) c.105316T= (p.Phe35106=) c.100714T= (p.Phe33572=) c.100711T= (p.Phe33571=) c.97753T= (p.Phe32585=) c.79369T= (p.Phe26457=) c.100864T= (p.Phe33622=) c.100861T= (p.Phe33621=) c.100294T= (p.Phe33432=) c.97636T= (p.Phe32546=) c.97555T= (p.Phe32519=) c.79318T= (p.Phe26440=) c.69172T= (p.Phe23058=) | |
2 | g.178530068A>C | CA1985105 | TTN,TTN-AS1 | c.98719T>G (p.Phe32907Val) c.79804T>G (p.Phe26602Val) c.79603T>G (p.Phe26535Val) c.79228T>G (p.Phe26410Val) c.106423T>G (p.Phe35475Val) c.101500T>G (p.Phe33834Val) n.446+6432A>C n.220-5664A>C c.105520T>G (p.Phe35174Val) c.79414T>G (p.Phe26472Val) c.79273T>G (p.Phe26425Val) c.105316T>G (p.Phe35106Val) c.100714T>G (p.Phe33572Val) c.100711T>G (p.Phe33571Val) c.97753T>G (p.Phe32585Val) c.79369T>G (p.Phe26457Val) c.100864T>G (p.Phe33622Val) c.100861T>G (p.Phe33621Val) c.100294T>G (p.Phe33432Val) c.97636T>G (p.Phe32546Val) c.97555T>G (p.Phe32519Val) c.79318T>G (p.Phe26440Val) c.69172T>G (p.Phe23058Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530068A>G | CA349405358 | TTN,TTN-AS1 | c.98719T>C (p.Phe32907Leu) c.79804T>C (p.Phe26602Leu) c.79603T>C (p.Phe26535Leu) c.79228T>C (p.Phe26410Leu) c.106423T>C (p.Phe35475Leu) c.101500T>C (p.Phe33834Leu) n.446+6432A>G n.220-5664A>G c.105520T>C (p.Phe35174Leu) c.79414T>C (p.Phe26472Leu) c.79273T>C (p.Phe26425Leu) c.105316T>C (p.Phe35106Leu) c.100714T>C (p.Phe33572Leu) c.100711T>C (p.Phe33571Leu) c.97753T>C (p.Phe32585Leu) c.79369T>C (p.Phe26457Leu) c.100864T>C (p.Phe33622Leu) c.100861T>C (p.Phe33621Leu) c.100294T>C (p.Phe33432Leu) c.97636T>C (p.Phe32546Leu) c.97555T>C (p.Phe32519Leu) c.79318T>C (p.Phe26440Leu) c.69172T>C (p.Phe23058Leu) | |
2 | g.178530068A>T | CA1985104 | TTN,TTN-AS1 | c.98719T>A (p.Phe32907Ile) c.79804T>A (p.Phe26602Ile) c.79603T>A (p.Phe26535Ile) c.79228T>A (p.Phe26410Ile) c.106423T>A (p.Phe35475Ile) c.101500T>A (p.Phe33834Ile) n.446+6432A>T n.220-5664A>T c.105520T>A (p.Phe35174Ile) c.79414T>A (p.Phe26472Ile) c.79273T>A (p.Phe26425Ile) c.105316T>A (p.Phe35106Ile) c.100714T>A (p.Phe33572Ile) c.100711T>A (p.Phe33571Ile) c.97753T>A (p.Phe32585Ile) c.79369T>A (p.Phe26457Ile) c.100864T>A (p.Phe33622Ile) c.100861T>A (p.Phe33621Ile) c.100294T>A (p.Phe33432Ile) c.97636T>A (p.Phe32546Ile) c.97555T>A (p.Phe32519Ile) c.79318T>A (p.Phe26440Ile) c.69172T>A (p.Phe23058Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530069C>A | CA430093936 | TTN,TTN-AS1 | c.98718G>T (p.Gly32906=) c.79803G>T (p.Gly26601=) c.79602G>T (p.Gly26534=) c.79227G>T (p.Gly26409=) c.106422G>T (p.Gly35474=) c.101499G>T (p.Gly33833=) n.446+6433C>A n.220-5663C>A c.105519G>T (p.Gly35173=) c.79413G>T (p.Gly26471=) c.79272G>T (p.Gly26424=) c.105315G>T (p.Gly35105=) c.100713G>T (p.Gly33571=) c.100710G>T (p.Gly33570=) c.97752G>T (p.Gly32584=) c.79368G>T (p.Gly26456=) c.100863G>T (p.Gly33621=) c.100860G>T (p.Gly33620=) c.100293G>T (p.Gly33431=) c.97635G>T (p.Gly32545=) c.97554G>T (p.Gly32518=) c.79317G>T (p.Gly26439=) c.69171G>T (p.Gly23057=) | |
2 | g.178530069C= | CA1310511423 | TTN,TTN-AS1 | c.98718G= (p.Gly32906=) c.79803G= (p.Gly26601=) c.79602G= (p.Gly26534=) c.79227G= (p.Gly26409=) c.106422G= (p.Gly35474=) c.101499G= (p.Gly33833=) n.446+6433C= n.220-5663C= c.105519G= (p.Gly35173=) c.79413G= (p.Gly26471=) c.79272G= (p.Gly26424=) c.105315G= (p.Gly35105=) c.100713G= (p.Gly33571=) c.100710G= (p.Gly33570=) c.97752G= (p.Gly32584=) c.79368G= (p.Gly26456=) c.100863G= (p.Gly33621=) c.100860G= (p.Gly33620=) c.100293G= (p.Gly33431=) c.97635G= (p.Gly32545=) c.97554G= (p.Gly32518=) c.79317G= (p.Gly26439=) c.69171G= (p.Gly23057=) | |
2 | g.178530069C>G | CA1985106 | TTN,TTN-AS1 | c.98718G>C (p.Gly32906=) c.79803G>C (p.Gly26601=) c.79602G>C (p.Gly26534=) c.79227G>C (p.Gly26409=) c.106422G>C (p.Gly35474=) c.101499G>C (p.Gly33833=) n.446+6433C>G n.220-5663C>G c.105519G>C (p.Gly35173=) c.79413G>C (p.Gly26471=) c.79272G>C (p.Gly26424=) c.105315G>C (p.Gly35105=) c.100713G>C (p.Gly33571=) c.100710G>C (p.Gly33570=) c.97752G>C (p.Gly32584=) c.79368G>C (p.Gly26456=) c.100863G>C (p.Gly33621=) c.100860G>C (p.Gly33620=) c.100293G>C (p.Gly33431=) c.97635G>C (p.Gly32545=) c.97554G>C (p.Gly32518=) c.79317G>C (p.Gly26439=) c.69171G>C (p.Gly23057=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530069C>T | CA1985107 | TTN,TTN-AS1 | c.98718G>A (p.Gly32906=) c.79803G>A (p.Gly26601=) c.79602G>A (p.Gly26534=) c.79227G>A (p.Gly26409=) c.106422G>A (p.Gly35474=) c.101499G>A (p.Gly33833=) n.446+6433C>T n.220-5663C>T c.105519G>A (p.Gly35173=) c.79413G>A (p.Gly26471=) c.79272G>A (p.Gly26424=) c.105315G>A (p.Gly35105=) c.100713G>A (p.Gly33571=) c.100710G>A (p.Gly33570=) c.97752G>A (p.Gly32584=) c.79368G>A (p.Gly26456=) c.100863G>A (p.Gly33621=) c.100860G>A (p.Gly33620=) c.100293G>A (p.Gly33431=) c.97635G>A (p.Gly32545=) c.97554G>A (p.Gly32518=) c.79317G>A (p.Gly26439=) c.69171G>A (p.Gly23057=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530071del | CA2017999288 | TTN,TTN-AS1 | c.98718del (p.Phe32907SerfsTer3) c.79803del (p.Phe26602SerfsTer3) c.79602del (p.Phe26535SerfsTer3) c.79227del (p.Phe26410SerfsTer3) c.106422del (p.Phe35475SerfsTer3) c.101499del (p.Phe33834SerfsTer3) n.446+6435del n.220-5661del c.105519del (p.Phe35174SerfsTer3) c.79413del (p.Phe26472SerfsTer3) c.79272del (p.Phe26425SerfsTer3) c.105315del (p.Phe35106SerfsTer3) c.100713del (p.Phe33572SerfsTer3) c.100710del (p.Phe33571SerfsTer3) c.97752del (p.Phe32585SerfsTer3) c.79368del (p.Phe26457SerfsTer3) c.100863del (p.Phe33622SerfsTer3) c.100860del (p.Phe33621SerfsTer3) c.100293del (p.Phe33432SerfsTer3) c.97635del (p.Phe32546SerfsTer3) c.97554del (p.Phe32519SerfsTer3) c.79317del (p.Phe26440SerfsTer3) c.69171del (p.Phe23058SerfsTer3) | |
2 | g.178530070C>A | CA1985108 | TTN,TTN-AS1 | c.98717G>T (p.Gly32906Val) c.79802G>T (p.Gly26601Val) c.79601G>T (p.Gly26534Val) c.79226G>T (p.Gly26409Val) c.106421G>T (p.Gly35474Val) c.101498G>T (p.Gly33833Val) n.446+6434C>A n.220-5662C>A c.105518G>T (p.Gly35173Val) c.79412G>T (p.Gly26471Val) c.79271G>T (p.Gly26424Val) c.105314G>T (p.Gly35105Val) c.100712G>T (p.Gly33571Val) c.100709G>T (p.Gly33570Val) c.97751G>T (p.Gly32584Val) c.79367G>T (p.Gly26456Val) c.100862G>T (p.Gly33621Val) c.100859G>T (p.Gly33620Val) c.100292G>T (p.Gly33431Val) c.97634G>T (p.Gly32545Val) c.97553G>T (p.Gly32518Val) c.79316G>T (p.Gly26439Val) c.69170G>T (p.Gly23057Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530070C= | CA1310511431 | TTN,TTN-AS1 | c.98717G= (p.Gly32906=) c.79802G= (p.Gly26601=) c.79601G= (p.Gly26534=) c.79226G= (p.Gly26409=) c.106421G= (p.Gly35474=) c.101498G= (p.Gly33833=) n.446+6434C= n.220-5662C= c.105518G= (p.Gly35173=) c.79412G= (p.Gly26471=) c.79271G= (p.Gly26424=) c.105314G= (p.Gly35105=) c.100712G= (p.Gly33571=) c.100709G= (p.Gly33570=) c.97751G= (p.Gly32584=) c.79367G= (p.Gly26456=) c.100862G= (p.Gly33621=) c.100859G= (p.Gly33620=) c.100292G= (p.Gly33431=) c.97634G= (p.Gly32545=) c.97553G= (p.Gly32518=) c.79316G= (p.Gly26439=) c.69170G= (p.Gly23057=) | |
2 | g.178530070C>G | CA349405373 | TTN,TTN-AS1 | c.98717G>C (p.Gly32906Ala) c.79802G>C (p.Gly26601Ala) c.79601G>C (p.Gly26534Ala) c.79226G>C (p.Gly26409Ala) c.106421G>C (p.Gly35474Ala) c.101498G>C (p.Gly33833Ala) n.446+6434C>G n.220-5662C>G c.105518G>C (p.Gly35173Ala) c.79412G>C (p.Gly26471Ala) c.79271G>C (p.Gly26424Ala) c.105314G>C (p.Gly35105Ala) c.100712G>C (p.Gly33571Ala) c.100709G>C (p.Gly33570Ala) c.97751G>C (p.Gly32584Ala) c.79367G>C (p.Gly26456Ala) c.100862G>C (p.Gly33621Ala) c.100859G>C (p.Gly33620Ala) c.100292G>C (p.Gly33431Ala) c.97634G>C (p.Gly32545Ala) c.97553G>C (p.Gly32518Ala) c.79316G>C (p.Gly26439Ala) c.69170G>C (p.Gly23057Ala) | gnomAD v4 |
2 | g.178530070C>T | CA349405376 | TTN,TTN-AS1 | c.98717G>A (p.Gly32906Glu) c.79802G>A (p.Gly26601Glu) c.79601G>A (p.Gly26534Glu) c.79226G>A (p.Gly26409Glu) c.106421G>A (p.Gly35474Glu) c.101498G>A (p.Gly33833Glu) n.446+6434C>T n.220-5662C>T c.105518G>A (p.Gly35173Glu) c.79412G>A (p.Gly26471Glu) c.79271G>A (p.Gly26424Glu) c.105314G>A (p.Gly35105Glu) c.100712G>A (p.Gly33571Glu) c.100709G>A (p.Gly33570Glu) c.97751G>A (p.Gly32584Glu) c.79367G>A (p.Gly26456Glu) c.100862G>A (p.Gly33621Glu) c.100859G>A (p.Gly33620Glu) c.100292G>A (p.Gly33431Glu) c.97634G>A (p.Gly32545Glu) c.97553G>A (p.Gly32518Glu) c.79316G>A (p.Gly26439Glu) c.69170G>A (p.Gly23057Glu) | |
2 | g.178530071C>A | CA349405380 | TTN,TTN-AS1 | c.98716G>T (p.Gly32906Trp) c.79801G>T (p.Gly26601Trp) c.79600G>T (p.Gly26534Trp) c.79225G>T (p.Gly26409Trp) c.106420G>T (p.Gly35474Trp) c.101497G>T (p.Gly33833Trp) n.446+6435C>A n.220-5661C>A c.105517G>T (p.Gly35173Trp) c.79411G>T (p.Gly26471Trp) c.79270G>T (p.Gly26424Trp) c.105313G>T (p.Gly35105Trp) c.100711G>T (p.Gly33571Trp) c.100708G>T (p.Gly33570Trp) c.97750G>T (p.Gly32584Trp) c.79366G>T (p.Gly26456Trp) c.100861G>T (p.Gly33621Trp) c.100858G>T (p.Gly33620Trp) c.100291G>T (p.Gly33431Trp) c.97633G>T (p.Gly32545Trp) c.97552G>T (p.Gly32518Trp) c.79315G>T (p.Gly26439Trp) c.69169G>T (p.Gly23057Trp) | |
2 | g.178530071C>G | CA349405385 | TTN,TTN-AS1 | c.98716G>C (p.Gly32906Arg) c.79801G>C (p.Gly26601Arg) c.79600G>C (p.Gly26534Arg) c.79225G>C (p.Gly26409Arg) c.106420G>C (p.Gly35474Arg) c.101497G>C (p.Gly33833Arg) n.446+6435C>G n.220-5661C>G c.105517G>C (p.Gly35173Arg) c.79411G>C (p.Gly26471Arg) c.79270G>C (p.Gly26424Arg) c.105313G>C (p.Gly35105Arg) c.100711G>C (p.Gly33571Arg) c.100708G>C (p.Gly33570Arg) c.97750G>C (p.Gly32584Arg) c.79366G>C (p.Gly26456Arg) c.100861G>C (p.Gly33621Arg) c.100858G>C (p.Gly33620Arg) c.100291G>C (p.Gly33431Arg) c.97633G>C (p.Gly32545Arg) c.97552G>C (p.Gly32518Arg) c.79315G>C (p.Gly26439Arg) c.69169G>C (p.Gly23057Arg) | dbSNP |
2 | g.178530071C>T | CA349405382 | TTN,TTN-AS1 | c.98716G>A (p.Gly32906Arg) c.79801G>A (p.Gly26601Arg) c.79600G>A (p.Gly26534Arg) c.79225G>A (p.Gly26409Arg) c.106420G>A (p.Gly35474Arg) c.101497G>A (p.Gly33833Arg) n.446+6435C>T n.220-5661C>T c.105517G>A (p.Gly35173Arg) c.79411G>A (p.Gly26471Arg) c.79270G>A (p.Gly26424Arg) c.105313G>A (p.Gly35105Arg) c.100711G>A (p.Gly33571Arg) c.100708G>A (p.Gly33570Arg) c.97750G>A (p.Gly32584Arg) c.79366G>A (p.Gly26456Arg) c.100861G>A (p.Gly33621Arg) c.100858G>A (p.Gly33620Arg) c.100291G>A (p.Gly33431Arg) c.97633G>A (p.Gly32545Arg) c.97552G>A (p.Gly32518Arg) c.79315G>A (p.Gly26439Arg) c.69169G>A (p.Gly23057Arg) | |
2 | g.178530072T>A | CA430093945 | TTN,TTN-AS1 | c.98715A>T (p.Gly32905=) c.79800A>T (p.Gly26600=) c.79599A>T (p.Gly26533=) c.79224A>T (p.Gly26408=) c.106419A>T (p.Gly35473=) c.101496A>T (p.Gly33832=) n.446+6436T>A n.220-5660T>A c.105516A>T (p.Gly35172=) c.79410A>T (p.Gly26470=) c.79269A>T (p.Gly26423=) c.105312A>T (p.Gly35104=) c.100710A>T (p.Gly33570=) c.100707A>T (p.Gly33569=) c.97749A>T (p.Gly32583=) c.79365A>T (p.Gly26455=) c.100860A>T (p.Gly33620=) c.100857A>T (p.Gly33619=) c.100290A>T (p.Gly33430=) c.97632A>T (p.Gly32544=) c.97551A>T (p.Gly32517=) c.79314A>T (p.Gly26438=) c.69168A>T (p.Gly23056=) | |
2 | g.178530072T>C | CA430093947 | TTN,TTN-AS1 | c.98715A>G (p.Gly32905=) c.79800A>G (p.Gly26600=) c.79599A>G (p.Gly26533=) c.79224A>G (p.Gly26408=) c.106419A>G (p.Gly35473=) c.101496A>G (p.Gly33832=) n.446+6436T>C n.220-5660T>C c.105516A>G (p.Gly35172=) c.79410A>G (p.Gly26470=) c.79269A>G (p.Gly26423=) c.105312A>G (p.Gly35104=) c.100710A>G (p.Gly33570=) c.100707A>G (p.Gly33569=) c.97749A>G (p.Gly32583=) c.79365A>G (p.Gly26455=) c.100860A>G (p.Gly33620=) c.100857A>G (p.Gly33619=) c.100290A>G (p.Gly33430=) c.97632A>G (p.Gly32544=) c.97551A>G (p.Gly32517=) c.79314A>G (p.Gly26438=) c.69168A>G (p.Gly23056=) | dbSNP |
2 | g.178530072T>G | CA430093944 | TTN,TTN-AS1 | c.98715A>C (p.Gly32905=) c.79800A>C (p.Gly26600=) c.79599A>C (p.Gly26533=) c.79224A>C (p.Gly26408=) c.106419A>C (p.Gly35473=) c.101496A>C (p.Gly33832=) n.446+6436T>G n.220-5660T>G c.105516A>C (p.Gly35172=) c.79410A>C (p.Gly26470=) c.79269A>C (p.Gly26423=) c.105312A>C (p.Gly35104=) c.100710A>C (p.Gly33570=) c.100707A>C (p.Gly33569=) c.97749A>C (p.Gly32583=) c.79365A>C (p.Gly26455=) c.100860A>C (p.Gly33620=) c.100857A>C (p.Gly33619=) c.100290A>C (p.Gly33430=) c.97632A>C (p.Gly32544=) c.97551A>C (p.Gly32517=) c.79314A>C (p.Gly26438=) c.69168A>C (p.Gly23056=) | |
2 | g.178530072T= | CA1310511433 | TTN,TTN-AS1 | c.98715A= (p.Gly32905=) c.79800A= (p.Gly26600=) c.79599A= (p.Gly26533=) c.79224A= (p.Gly26408=) c.106419A= (p.Gly35473=) c.101496A= (p.Gly33832=) n.446+6436T= n.220-5660T= c.105516A= (p.Gly35172=) c.79410A= (p.Gly26470=) c.79269A= (p.Gly26423=) c.105312A= (p.Gly35104=) c.100710A= (p.Gly33570=) c.100707A= (p.Gly33569=) c.97749A= (p.Gly32583=) c.79365A= (p.Gly26455=) c.100860A= (p.Gly33620=) c.100857A= (p.Gly33619=) c.100290A= (p.Gly33430=) c.97632A= (p.Gly32544=) c.97551A= (p.Gly32517=) c.79314A= (p.Gly26438=) c.69168A= (p.Gly23056=) | |
2 | g.178530073C>A | CA349405388 | TTN,TTN-AS1 | c.98714G>T (p.Gly32905Val) c.79799G>T (p.Gly26600Val) c.79598G>T (p.Gly26533Val) c.79223G>T (p.Gly26408Val) c.106418G>T (p.Gly35473Val) c.101495G>T (p.Gly33832Val) n.446+6437C>A n.220-5659C>A c.105515G>T (p.Gly35172Val) c.79409G>T (p.Gly26470Val) c.79268G>T (p.Gly26423Val) c.105311G>T (p.Gly35104Val) c.100709G>T (p.Gly33570Val) c.100706G>T (p.Gly33569Val) c.97748G>T (p.Gly32583Val) c.79364G>T (p.Gly26455Val) c.100859G>T (p.Gly33620Val) c.100856G>T (p.Gly33619Val) c.100289G>T (p.Gly33430Val) c.97631G>T (p.Gly32544Val) c.97550G>T (p.Gly32517Val) c.79313G>T (p.Gly26438Val) c.69167G>T (p.Gly23056Val) | dbSNP |
2 | g.178530073C= | CA1310511436 | TTN,TTN-AS1 | c.98714G= (p.Gly32905=) c.79799G= (p.Gly26600=) c.79598G= (p.Gly26533=) c.79223G= (p.Gly26408=) c.106418G= (p.Gly35473=) c.101495G= (p.Gly33832=) n.446+6437C= n.220-5659C= c.105515G= (p.Gly35172=) c.79409G= (p.Gly26470=) c.79268G= (p.Gly26423=) c.105311G= (p.Gly35104=) c.100709G= (p.Gly33570=) c.100706G= (p.Gly33569=) c.97748G= (p.Gly32583=) c.79364G= (p.Gly26455=) c.100859G= (p.Gly33620=) c.100856G= (p.Gly33619=) c.100289G= (p.Gly33430=) c.97631G= (p.Gly32544=) c.97550G= (p.Gly32517=) c.79313G= (p.Gly26438=) c.69167G= (p.Gly23056=) | |
2 | g.178530073C>G | CA349405391 | TTN,TTN-AS1 | c.98714G>C (p.Gly32905Ala) c.79799G>C (p.Gly26600Ala) c.79598G>C (p.Gly26533Ala) c.79223G>C (p.Gly26408Ala) c.106418G>C (p.Gly35473Ala) c.101495G>C (p.Gly33832Ala) n.446+6437C>G n.220-5659C>G c.105515G>C (p.Gly35172Ala) c.79409G>C (p.Gly26470Ala) c.79268G>C (p.Gly26423Ala) c.105311G>C (p.Gly35104Ala) c.100709G>C (p.Gly33570Ala) c.100706G>C (p.Gly33569Ala) c.97748G>C (p.Gly32583Ala) c.79364G>C (p.Gly26455Ala) c.100859G>C (p.Gly33620Ala) c.100856G>C (p.Gly33619Ala) c.100289G>C (p.Gly33430Ala) c.97631G>C (p.Gly32544Ala) c.97550G>C (p.Gly32517Ala) c.79313G>C (p.Gly26438Ala) c.69167G>C (p.Gly23056Ala) | |
2 | g.178530073C>T | CA349405393 | TTN,TTN-AS1 | c.98714G>A (p.Gly32905Glu) c.79799G>A (p.Gly26600Glu) c.79598G>A (p.Gly26533Glu) c.79223G>A (p.Gly26408Glu) c.106418G>A (p.Gly35473Glu) c.101495G>A (p.Gly33832Glu) n.446+6437C>T n.220-5659C>T c.105515G>A (p.Gly35172Glu) c.79409G>A (p.Gly26470Glu) c.79268G>A (p.Gly26423Glu) c.105311G>A (p.Gly35104Glu) c.100709G>A (p.Gly33570Glu) c.100706G>A (p.Gly33569Glu) c.97748G>A (p.Gly32583Glu) c.79364G>A (p.Gly26455Glu) c.100859G>A (p.Gly33620Glu) c.100856G>A (p.Gly33619Glu) c.100289G>A (p.Gly33430Glu) c.97631G>A (p.Gly32544Glu) c.97550G>A (p.Gly32517Glu) c.79313G>A (p.Gly26438Glu) c.69167G>A (p.Gly23056Glu) | ClinVar dbSNP |
2 | g.178530074C>A | CA349405396 | TTN,TTN-AS1 | c.98713G>T (p.Gly32905Ter) c.79798G>T (p.Gly26600Ter) c.79597G>T (p.Gly26533Ter) c.79222G>T (p.Gly26408Ter) c.106417G>T (p.Gly35473Ter) c.101494G>T (p.Gly33832Ter) n.446+6438C>A n.220-5658C>A c.105514G>T (p.Gly35172Ter) c.79408G>T (p.Gly26470Ter) c.79267G>T (p.Gly26423Ter) c.105310G>T (p.Gly35104Ter) c.100708G>T (p.Gly33570Ter) c.100705G>T (p.Gly33569Ter) c.97747G>T (p.Gly32583Ter) c.79363G>T (p.Gly26455Ter) c.100858G>T (p.Gly33620Ter) c.100855G>T (p.Gly33619Ter) c.100288G>T (p.Gly33430Ter) c.97630G>T (p.Gly32544Ter) c.97549G>T (p.Gly32517Ter) c.79312G>T (p.Gly26438Ter) c.69166G>T (p.Gly23056Ter) | |
2 | g.178530074C= | CA1310511439 | TTN,TTN-AS1 | c.98713G= (p.Gly32905=) c.79798G= (p.Gly26600=) c.79597G= (p.Gly26533=) c.79222G= (p.Gly26408=) c.106417G= (p.Gly35473=) c.101494G= (p.Gly33832=) n.446+6438C= n.220-5658C= c.105514G= (p.Gly35172=) c.79408G= (p.Gly26470=) c.79267G= (p.Gly26423=) c.105310G= (p.Gly35104=) c.100708G= (p.Gly33570=) c.100705G= (p.Gly33569=) c.97747G= (p.Gly32583=) c.79363G= (p.Gly26455=) c.100858G= (p.Gly33620=) c.100855G= (p.Gly33619=) c.100288G= (p.Gly33430=) c.97630G= (p.Gly32544=) c.97549G= (p.Gly32517=) c.79312G= (p.Gly26438=) c.69166G= (p.Gly23056=) | |
2 | g.178530074C>G | CA349405403 | TTN,TTN-AS1 | c.98713G>C (p.Gly32905Arg) c.79798G>C (p.Gly26600Arg) c.79597G>C (p.Gly26533Arg) c.79222G>C (p.Gly26408Arg) c.106417G>C (p.Gly35473Arg) c.101494G>C (p.Gly33832Arg) n.446+6438C>G n.220-5658C>G c.105514G>C (p.Gly35172Arg) c.79408G>C (p.Gly26470Arg) c.79267G>C (p.Gly26423Arg) c.105310G>C (p.Gly35104Arg) c.100708G>C (p.Gly33570Arg) c.100705G>C (p.Gly33569Arg) c.97747G>C (p.Gly32583Arg) c.79363G>C (p.Gly26455Arg) c.100858G>C (p.Gly33620Arg) c.100855G>C (p.Gly33619Arg) c.100288G>C (p.Gly33430Arg) c.97630G>C (p.Gly32544Arg) c.97549G>C (p.Gly32517Arg) c.79312G>C (p.Gly26438Arg) c.69166G>C (p.Gly23056Arg) | |
2 | g.178530074C>T | CA1985109 | TTN,TTN-AS1 | c.98713G>A (p.Gly32905Arg) c.79798G>A (p.Gly26600Arg) c.79597G>A (p.Gly26533Arg) c.79222G>A (p.Gly26408Arg) c.106417G>A (p.Gly35473Arg) c.101494G>A (p.Gly33832Arg) n.446+6438C>T n.220-5658C>T c.105514G>A (p.Gly35172Arg) c.79408G>A (p.Gly26470Arg) c.79267G>A (p.Gly26423Arg) c.105310G>A (p.Gly35104Arg) c.100708G>A (p.Gly33570Arg) c.100705G>A (p.Gly33569Arg) c.97747G>A (p.Gly32583Arg) c.79363G>A (p.Gly26455Arg) c.100858G>A (p.Gly33620Arg) c.100855G>A (p.Gly33619Arg) c.100288G>A (p.Gly33430Arg) c.97630G>A (p.Gly32544Arg) c.97549G>A (p.Gly32517Arg) c.79312G>A (p.Gly26438Arg) c.69166G>A (p.Gly23056Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530075C>A | CA349405407 | TTN,TTN-AS1 | c.98712G>T (p.Lys32904Asn) c.79797G>T (p.Lys26599Asn) c.79596G>T (p.Lys26532Asn) c.79221G>T (p.Lys26407Asn) c.106416G>T (p.Lys35472Asn) c.101493G>T (p.Lys33831Asn) n.446+6439C>A n.220-5657C>A c.105513G>T (p.Lys35171Asn) c.79407G>T (p.Lys26469Asn) c.79266G>T (p.Lys26422Asn) c.105309G>T (p.Lys35103Asn) c.100707G>T (p.Lys33569Asn) c.100704G>T (p.Lys33568Asn) c.97746G>T (p.Lys32582Asn) c.79362G>T (p.Lys26454Asn) c.100857G>T (p.Lys33619Asn) c.100854G>T (p.Lys33618Asn) c.100287G>T (p.Lys33429Asn) c.97629G>T (p.Lys32543Asn) c.97548G>T (p.Lys32516Asn) c.79311G>T (p.Lys26437Asn) c.69165G>T (p.Lys23055Asn) | |
2 | g.178530075C= | CA1310511444 | TTN,TTN-AS1 | c.98712G= (p.Lys32904=) c.79797G= (p.Lys26599=) c.79596G= (p.Lys26532=) c.79221G= (p.Lys26407=) c.106416G= (p.Lys35472=) c.101493G= (p.Lys33831=) n.446+6439C= n.220-5657C= c.105513G= (p.Lys35171=) c.79407G= (p.Lys26469=) c.79266G= (p.Lys26422=) c.105309G= (p.Lys35103=) c.100707G= (p.Lys33569=) c.100704G= (p.Lys33568=) c.97746G= (p.Lys32582=) c.79362G= (p.Lys26454=) c.100857G= (p.Lys33619=) c.100854G= (p.Lys33618=) c.100287G= (p.Lys33429=) c.97629G= (p.Lys32543=) c.97548G= (p.Lys32516=) c.79311G= (p.Lys26437=) c.69165G= (p.Lys23055=) | |
2 | g.178530075C>G | CA349405411 | TTN,TTN-AS1 | c.98712G>C (p.Lys32904Asn) c.79797G>C (p.Lys26599Asn) c.79596G>C (p.Lys26532Asn) c.79221G>C (p.Lys26407Asn) c.106416G>C (p.Lys35472Asn) c.101493G>C (p.Lys33831Asn) n.446+6439C>G n.220-5657C>G c.105513G>C (p.Lys35171Asn) c.79407G>C (p.Lys26469Asn) c.79266G>C (p.Lys26422Asn) c.105309G>C (p.Lys35103Asn) c.100707G>C (p.Lys33569Asn) c.100704G>C (p.Lys33568Asn) c.97746G>C (p.Lys32582Asn) c.79362G>C (p.Lys26454Asn) c.100857G>C (p.Lys33619Asn) c.100854G>C (p.Lys33618Asn) c.100287G>C (p.Lys33429Asn) c.97629G>C (p.Lys32543Asn) c.97548G>C (p.Lys32516Asn) c.79311G>C (p.Lys26437Asn) c.69165G>C (p.Lys23055Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530075C>T | CA1985110 | TTN,TTN-AS1 | c.98712G>A (p.Lys32904=) c.79797G>A (p.Lys26599=) c.79596G>A (p.Lys26532=) c.79221G>A (p.Lys26407=) c.106416G>A (p.Lys35472=) c.101493G>A (p.Lys33831=) n.446+6439C>T n.220-5657C>T c.105513G>A (p.Lys35171=) c.79407G>A (p.Lys26469=) c.79266G>A (p.Lys26422=) c.105309G>A (p.Lys35103=) c.100707G>A (p.Lys33569=) c.100704G>A (p.Lys33568=) c.97746G>A (p.Lys32582=) c.79362G>A (p.Lys26454=) c.100857G>A (p.Lys33619=) c.100854G>A (p.Lys33618=) c.100287G>A (p.Lys33429=) c.97629G>A (p.Lys32543=) c.97548G>A (p.Lys32516=) c.79311G>A (p.Lys26437=) c.69165G>A (p.Lys23055=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530076T>A | CA349405417 | TTN,TTN-AS1 | c.98711A>T (p.Lys32904Met) c.79796A>T (p.Lys26599Met) c.79595A>T (p.Lys26532Met) c.79220A>T (p.Lys26407Met) c.106415A>T (p.Lys35472Met) c.101492A>T (p.Lys33831Met) n.446+6440T>A n.220-5656T>A c.105512A>T (p.Lys35171Met) c.79406A>T (p.Lys26469Met) c.79265A>T (p.Lys26422Met) c.105308A>T (p.Lys35103Met) c.100706A>T (p.Lys33569Met) c.100703A>T (p.Lys33568Met) c.97745A>T (p.Lys32582Met) c.79361A>T (p.Lys26454Met) c.100856A>T (p.Lys33619Met) c.100853A>T (p.Lys33618Met) c.100286A>T (p.Lys33429Met) c.97628A>T (p.Lys32543Met) c.97547A>T (p.Lys32516Met) c.79310A>T (p.Lys26437Met) c.69164A>T (p.Lys23055Met) | |
2 | g.178530076T>C | CA349405420 | TTN,TTN-AS1 | c.98711A>G (p.Lys32904Arg) c.79796A>G (p.Lys26599Arg) c.79595A>G (p.Lys26532Arg) c.79220A>G (p.Lys26407Arg) c.106415A>G (p.Lys35472Arg) c.101492A>G (p.Lys33831Arg) n.446+6440T>C n.220-5656T>C c.105512A>G (p.Lys35171Arg) c.79406A>G (p.Lys26469Arg) c.79265A>G (p.Lys26422Arg) c.105308A>G (p.Lys35103Arg) c.100706A>G (p.Lys33569Arg) c.100703A>G (p.Lys33568Arg) c.97745A>G (p.Lys32582Arg) c.79361A>G (p.Lys26454Arg) c.100856A>G (p.Lys33619Arg) c.100853A>G (p.Lys33618Arg) c.100286A>G (p.Lys33429Arg) c.97628A>G (p.Lys32543Arg) c.97547A>G (p.Lys32516Arg) c.79310A>G (p.Lys26437Arg) c.69164A>G (p.Lys23055Arg) | dbSNP |
2 | g.178530076T>G | CA349405424 | TTN,TTN-AS1 | c.98711A>C (p.Lys32904Thr) c.79796A>C (p.Lys26599Thr) c.79595A>C (p.Lys26532Thr) c.79220A>C (p.Lys26407Thr) c.106415A>C (p.Lys35472Thr) c.101492A>C (p.Lys33831Thr) n.446+6440T>G n.220-5656T>G c.105512A>C (p.Lys35171Thr) c.79406A>C (p.Lys26469Thr) c.79265A>C (p.Lys26422Thr) c.105308A>C (p.Lys35103Thr) c.100706A>C (p.Lys33569Thr) c.100703A>C (p.Lys33568Thr) c.97745A>C (p.Lys32582Thr) c.79361A>C (p.Lys26454Thr) c.100856A>C (p.Lys33619Thr) c.100853A>C (p.Lys33618Thr) c.100286A>C (p.Lys33429Thr) c.97628A>C (p.Lys32543Thr) c.97547A>C (p.Lys32516Thr) c.79310A>C (p.Lys26437Thr) c.69164A>C (p.Lys23055Thr) | ClinVar dbSNP |
2 | g.178530076T= | CA1310511449 | TTN,TTN-AS1 | c.98711A= (p.Lys32904=) c.79796A= (p.Lys26599=) c.79595A= (p.Lys26532=) c.79220A= (p.Lys26407=) c.106415A= (p.Lys35472=) c.101492A= (p.Lys33831=) n.446+6440T= n.220-5656T= c.105512A= (p.Lys35171=) c.79406A= (p.Lys26469=) c.79265A= (p.Lys26422=) c.105308A= (p.Lys35103=) c.100706A= (p.Lys33569=) c.100703A= (p.Lys33568=) c.97745A= (p.Lys32582=) c.79361A= (p.Lys26454=) c.100856A= (p.Lys33619=) c.100853A= (p.Lys33618=) c.100286A= (p.Lys33429=) c.97628A= (p.Lys32543=) c.97547A= (p.Lys32516=) c.79310A= (p.Lys26437=) c.69164A= (p.Lys23055=) | |
2 | g.178530077T>A | CA349405431 | TTN,TTN-AS1 | c.98710A>T (p.Lys32904Ter) c.79795A>T (p.Lys26599Ter) c.79594A>T (p.Lys26532Ter) c.79219A>T (p.Lys26407Ter) c.106414A>T (p.Lys35472Ter) c.101491A>T (p.Lys33831Ter) n.446+6441T>A n.220-5655T>A c.105511A>T (p.Lys35171Ter) c.79405A>T (p.Lys26469Ter) c.79264A>T (p.Lys26422Ter) c.105307A>T (p.Lys35103Ter) c.100705A>T (p.Lys33569Ter) c.100702A>T (p.Lys33568Ter) c.97744A>T (p.Lys32582Ter) c.79360A>T (p.Lys26454Ter) c.100855A>T (p.Lys33619Ter) c.100852A>T (p.Lys33618Ter) c.100285A>T (p.Lys33429Ter) c.97627A>T (p.Lys32543Ter) c.97546A>T (p.Lys32516Ter) c.79309A>T (p.Lys26437Ter) c.69163A>T (p.Lys23055Ter) | |
2 | g.178530077T>C | CA349405433 | TTN,TTN-AS1 | c.98710A>G (p.Lys32904Glu) c.79795A>G (p.Lys26599Glu) c.79594A>G (p.Lys26532Glu) c.79219A>G (p.Lys26407Glu) c.106414A>G (p.Lys35472Glu) c.101491A>G (p.Lys33831Glu) n.446+6441T>C n.220-5655T>C c.105511A>G (p.Lys35171Glu) c.79405A>G (p.Lys26469Glu) c.79264A>G (p.Lys26422Glu) c.105307A>G (p.Lys35103Glu) c.100705A>G (p.Lys33569Glu) c.100702A>G (p.Lys33568Glu) c.97744A>G (p.Lys32582Glu) c.79360A>G (p.Lys26454Glu) c.100855A>G (p.Lys33619Glu) c.100852A>G (p.Lys33618Glu) c.100285A>G (p.Lys33429Glu) c.97627A>G (p.Lys32543Glu) c.97546A>G (p.Lys32516Glu) c.79309A>G (p.Lys26437Glu) c.69163A>G (p.Lys23055Glu) | |
2 | g.178530077T>G | CA349405426 | TTN,TTN-AS1 | c.98710A>C (p.Lys32904Gln) c.79795A>C (p.Lys26599Gln) c.79594A>C (p.Lys26532Gln) c.79219A>C (p.Lys26407Gln) c.106414A>C (p.Lys35472Gln) c.101491A>C (p.Lys33831Gln) n.446+6441T>G n.220-5655T>G c.105511A>C (p.Lys35171Gln) c.79405A>C (p.Lys26469Gln) c.79264A>C (p.Lys26422Gln) c.105307A>C (p.Lys35103Gln) c.100705A>C (p.Lys33569Gln) c.100702A>C (p.Lys33568Gln) c.97744A>C (p.Lys32582Gln) c.79360A>C (p.Lys26454Gln) c.100855A>C (p.Lys33619Gln) c.100852A>C (p.Lys33618Gln) c.100285A>C (p.Lys33429Gln) c.97627A>C (p.Lys32543Gln) c.97546A>C (p.Lys32516Gln) c.79309A>C (p.Lys26437Gln) c.69163A>C (p.Lys23055Gln) | |
2 | g.178530078G>A | CA430093965 | TTN,TTN-AS1 | c.98709C>T (p.Asp32903=) c.79794C>T (p.Asp26598=) c.79593C>T (p.Asp26531=) c.79218C>T (p.Asp26406=) c.106413C>T (p.Asp35471=) c.101490C>T (p.Asp33830=) n.446+6442G>A n.220-5654G>A c.105510C>T (p.Asp35170=) c.79404C>T (p.Asp26468=) c.79263C>T (p.Asp26421=) c.105306C>T (p.Asp35102=) c.100704C>T (p.Asp33568=) c.100701C>T (p.Asp33567=) c.97743C>T (p.Asp32581=) c.79359C>T (p.Asp26453=) c.100854C>T (p.Asp33618=) c.100851C>T (p.Asp33617=) c.100284C>T (p.Asp33428=) c.97626C>T (p.Asp32542=) c.97545C>T (p.Asp32515=) c.79308C>T (p.Asp26436=) c.69162C>T (p.Asp23054=) | |
2 | g.178530078G>C | CA349405436 | TTN,TTN-AS1 | c.98709C>G (p.Asp32903Glu) c.79794C>G (p.Asp26598Glu) c.79593C>G (p.Asp26531Glu) c.79218C>G (p.Asp26406Glu) c.106413C>G (p.Asp35471Glu) c.101490C>G (p.Asp33830Glu) n.446+6442G>C n.220-5654G>C c.105510C>G (p.Asp35170Glu) c.79404C>G (p.Asp26468Glu) c.79263C>G (p.Asp26421Glu) c.105306C>G (p.Asp35102Glu) c.100704C>G (p.Asp33568Glu) c.100701C>G (p.Asp33567Glu) c.97743C>G (p.Asp32581Glu) c.79359C>G (p.Asp26453Glu) c.100854C>G (p.Asp33618Glu) c.100851C>G (p.Asp33617Glu) c.100284C>G (p.Asp33428Glu) c.97626C>G (p.Asp32542Glu) c.97545C>G (p.Asp32515Glu) c.79308C>G (p.Asp26436Glu) c.69162C>G (p.Asp23054Glu) | |
2 | g.178530078G>T | CA349405439 | TTN,TTN-AS1 | c.98709C>A (p.Asp32903Glu) c.79794C>A (p.Asp26598Glu) c.79593C>A (p.Asp26531Glu) c.79218C>A (p.Asp26406Glu) c.106413C>A (p.Asp35471Glu) c.101490C>A (p.Asp33830Glu) n.446+6442G>T n.220-5654G>T c.105510C>A (p.Asp35170Glu) c.79404C>A (p.Asp26468Glu) c.79263C>A (p.Asp26421Glu) c.105306C>A (p.Asp35102Glu) c.100704C>A (p.Asp33568Glu) c.100701C>A (p.Asp33567Glu) c.97743C>A (p.Asp32581Glu) c.79359C>A (p.Asp26453Glu) c.100854C>A (p.Asp33618Glu) c.100851C>A (p.Asp33617Glu) c.100284C>A (p.Asp33428Glu) c.97626C>A (p.Asp32542Glu) c.97545C>A (p.Asp32515Glu) c.79308C>A (p.Asp26436Glu) c.69162C>A (p.Asp23054Glu) | |
2 | g.178530079T>A | CA349405442 | TTN,TTN-AS1 | c.98708A>T (p.Asp32903Val) c.79793A>T (p.Asp26598Val) c.79592A>T (p.Asp26531Val) c.79217A>T (p.Asp26406Val) c.106412A>T (p.Asp35471Val) c.101489A>T (p.Asp33830Val) n.446+6443T>A n.220-5653T>A c.105509A>T (p.Asp35170Val) c.79403A>T (p.Asp26468Val) c.79262A>T (p.Asp26421Val) c.105305A>T (p.Asp35102Val) c.100703A>T (p.Asp33568Val) c.100700A>T (p.Asp33567Val) c.97742A>T (p.Asp32581Val) c.79358A>T (p.Asp26453Val) c.100853A>T (p.Asp33618Val) c.100850A>T (p.Asp33617Val) c.100283A>T (p.Asp33428Val) c.97625A>T (p.Asp32542Val) c.97544A>T (p.Asp32515Val) c.79307A>T (p.Asp26436Val) c.69161A>T (p.Asp23054Val) | |
2 | g.178530079T>C | CA349405444 | TTN,TTN-AS1 | c.98708A>G (p.Asp32903Gly) c.79793A>G (p.Asp26598Gly) c.79592A>G (p.Asp26531Gly) c.79217A>G (p.Asp26406Gly) c.106412A>G (p.Asp35471Gly) c.101489A>G (p.Asp33830Gly) n.446+6443T>C n.220-5653T>C c.105509A>G (p.Asp35170Gly) c.79403A>G (p.Asp26468Gly) c.79262A>G (p.Asp26421Gly) c.105305A>G (p.Asp35102Gly) c.100703A>G (p.Asp33568Gly) c.100700A>G (p.Asp33567Gly) c.97742A>G (p.Asp32581Gly) c.79358A>G (p.Asp26453Gly) c.100853A>G (p.Asp33618Gly) c.100850A>G (p.Asp33617Gly) c.100283A>G (p.Asp33428Gly) c.97625A>G (p.Asp32542Gly) c.97544A>G (p.Asp32515Gly) c.79307A>G (p.Asp26436Gly) c.69161A>G (p.Asp23054Gly) | dbSNP |
2 | g.178530079T>G | CA349405446 | TTN,TTN-AS1 | c.98708A>C (p.Asp32903Ala) c.79793A>C (p.Asp26598Ala) c.79592A>C (p.Asp26531Ala) c.79217A>C (p.Asp26406Ala) c.106412A>C (p.Asp35471Ala) c.101489A>C (p.Asp33830Ala) n.446+6443T>G n.220-5653T>G c.105509A>C (p.Asp35170Ala) c.79403A>C (p.Asp26468Ala) c.79262A>C (p.Asp26421Ala) c.105305A>C (p.Asp35102Ala) c.100703A>C (p.Asp33568Ala) c.100700A>C (p.Asp33567Ala) c.97742A>C (p.Asp32581Ala) c.79358A>C (p.Asp26453Ala) c.100853A>C (p.Asp33618Ala) c.100850A>C (p.Asp33617Ala) c.100283A>C (p.Asp33428Ala) c.97625A>C (p.Asp32542Ala) c.97544A>C (p.Asp32515Ala) c.79307A>C (p.Asp26436Ala) c.69161A>C (p.Asp23054Ala) | |
2 | g.178530079T= | CA1310511453 | TTN,TTN-AS1 | c.98708A= (p.Asp32903=) c.79793A= (p.Asp26598=) c.79592A= (p.Asp26531=) c.79217A= (p.Asp26406=) c.106412A= (p.Asp35471=) c.101489A= (p.Asp33830=) n.446+6443T= n.220-5653T= c.105509A= (p.Asp35170=) c.79403A= (p.Asp26468=) c.79262A= (p.Asp26421=) c.105305A= (p.Asp35102=) c.100703A= (p.Asp33568=) c.100700A= (p.Asp33567=) c.97742A= (p.Asp32581=) c.79358A= (p.Asp26453=) c.100853A= (p.Asp33618=) c.100850A= (p.Asp33617=) c.100283A= (p.Asp33428=) c.97625A= (p.Asp32542=) c.97544A= (p.Asp32515=) c.79307A= (p.Asp26436=) c.69161A= (p.Asp23054=) | |
2 | g.178530080C>A | CA349405450 | TTN,TTN-AS1 | c.98707G>T (p.Asp32903Tyr) c.79792G>T (p.Asp26598Tyr) c.79591G>T (p.Asp26531Tyr) c.79216G>T (p.Asp26406Tyr) c.106411G>T (p.Asp35471Tyr) c.101488G>T (p.Asp33830Tyr) n.446+6444C>A n.220-5652C>A c.105508G>T (p.Asp35170Tyr) c.79402G>T (p.Asp26468Tyr) c.79261G>T (p.Asp26421Tyr) c.105304G>T (p.Asp35102Tyr) c.100702G>T (p.Asp33568Tyr) c.100699G>T (p.Asp33567Tyr) c.97741G>T (p.Asp32581Tyr) c.79357G>T (p.Asp26453Tyr) c.100852G>T (p.Asp33618Tyr) c.100849G>T (p.Asp33617Tyr) c.100282G>T (p.Asp33428Tyr) c.97624G>T (p.Asp32542Tyr) c.97543G>T (p.Asp32515Tyr) c.79306G>T (p.Asp26436Tyr) c.69160G>T (p.Asp23054Tyr) | |
2 | g.178530080C>G | CA349405451 | TTN,TTN-AS1 | c.98707G>C (p.Asp32903His) c.79792G>C (p.Asp26598His) c.79591G>C (p.Asp26531His) c.79216G>C (p.Asp26406His) c.106411G>C (p.Asp35471His) c.101488G>C (p.Asp33830His) n.446+6444C>G n.220-5652C>G c.105508G>C (p.Asp35170His) c.79402G>C (p.Asp26468His) c.79261G>C (p.Asp26421His) c.105304G>C (p.Asp35102His) c.100702G>C (p.Asp33568His) c.100699G>C (p.Asp33567His) c.97741G>C (p.Asp32581His) c.79357G>C (p.Asp26453His) c.100852G>C (p.Asp33618His) c.100849G>C (p.Asp33617His) c.100282G>C (p.Asp33428His) c.97624G>C (p.Asp32542His) c.97543G>C (p.Asp32515His) c.79306G>C (p.Asp26436His) c.69160G>C (p.Asp23054His) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530080C>T | CA349405453 | TTN,TTN-AS1 | c.98707G>A (p.Asp32903Asn) c.79792G>A (p.Asp26598Asn) c.79591G>A (p.Asp26531Asn) c.79216G>A (p.Asp26406Asn) c.106411G>A (p.Asp35471Asn) c.101488G>A (p.Asp33830Asn) n.446+6444C>T n.220-5652C>T c.105508G>A (p.Asp35170Asn) c.79402G>A (p.Asp26468Asn) c.79261G>A (p.Asp26421Asn) c.105304G>A (p.Asp35102Asn) c.100702G>A (p.Asp33568Asn) c.100699G>A (p.Asp33567Asn) c.97741G>A (p.Asp32581Asn) c.79357G>A (p.Asp26453Asn) c.100852G>A (p.Asp33618Asn) c.100849G>A (p.Asp33617Asn) c.100282G>A (p.Asp33428Asn) c.97624G>A (p.Asp32542Asn) c.97543G>A (p.Asp32515Asn) c.79306G>A (p.Asp26436Asn) c.69160G>A (p.Asp23054Asn) | gnomAD v4 |
2 | g.178530081T>A | CA349405455 | TTN,TTN-AS1 | c.98706A>T (p.Glu32902Asp) c.79791A>T (p.Glu26597Asp) c.79590A>T (p.Glu26530Asp) c.79215A>T (p.Glu26405Asp) c.106410A>T (p.Glu35470Asp) c.101487A>T (p.Glu33829Asp) n.446+6445T>A n.220-5651T>A c.105507A>T (p.Glu35169Asp) c.79401A>T (p.Glu26467Asp) c.79260A>T (p.Glu26420Asp) c.105303A>T (p.Glu35101Asp) c.100701A>T (p.Glu33567Asp) c.100698A>T (p.Glu33566Asp) c.97740A>T (p.Glu32580Asp) c.79356A>T (p.Glu26452Asp) c.100851A>T (p.Glu33617Asp) c.100848A>T (p.Glu33616Asp) c.100281A>T (p.Glu33427Asp) c.97623A>T (p.Glu32541Asp) c.97542A>T (p.Glu32514Asp) c.79305A>T (p.Glu26435Asp) c.69159A>T (p.Glu23053Asp) | |
2 | g.178530081T>C | CA430093983 | TTN,TTN-AS1 | c.98706A>G (p.Glu32902=) c.79791A>G (p.Glu26597=) c.79590A>G (p.Glu26530=) c.79215A>G (p.Glu26405=) c.106410A>G (p.Glu35470=) c.101487A>G (p.Glu33829=) n.446+6445T>C n.220-5651T>C c.105507A>G (p.Glu35169=) c.79401A>G (p.Glu26467=) c.79260A>G (p.Glu26420=) c.105303A>G (p.Glu35101=) c.100701A>G (p.Glu33567=) c.100698A>G (p.Glu33566=) c.97740A>G (p.Glu32580=) c.79356A>G (p.Glu26452=) c.100851A>G (p.Glu33617=) c.100848A>G (p.Glu33616=) c.100281A>G (p.Glu33427=) c.97623A>G (p.Glu32541=) c.97542A>G (p.Glu32514=) c.79305A>G (p.Glu26435=) c.69159A>G (p.Glu23053=) | |
2 | g.178530081T>G | CA349405457 | TTN,TTN-AS1 | c.98706A>C (p.Glu32902Asp) c.79791A>C (p.Glu26597Asp) c.79590A>C (p.Glu26530Asp) c.79215A>C (p.Glu26405Asp) c.106410A>C (p.Glu35470Asp) c.101487A>C (p.Glu33829Asp) n.446+6445T>G n.220-5651T>G c.105507A>C (p.Glu35169Asp) c.79401A>C (p.Glu26467Asp) c.79260A>C (p.Glu26420Asp) c.105303A>C (p.Glu35101Asp) c.100701A>C (p.Glu33567Asp) c.100698A>C (p.Glu33566Asp) c.97740A>C (p.Glu32580Asp) c.79356A>C (p.Glu26452Asp) c.100851A>C (p.Glu33617Asp) c.100848A>C (p.Glu33616Asp) c.100281A>C (p.Glu33427Asp) c.97623A>C (p.Glu32541Asp) c.97542A>C (p.Glu32514Asp) c.79305A>C (p.Glu26435Asp) c.69159A>C (p.Glu23053Asp) | |
2 | g.178530082T>A | CA349405462 | TTN,TTN-AS1 | c.98705A>T (p.Glu32902Val) c.79790A>T (p.Glu26597Val) c.79589A>T (p.Glu26530Val) c.79214A>T (p.Glu26405Val) c.106409A>T (p.Glu35470Val) c.101486A>T (p.Glu33829Val) n.446+6446T>A n.220-5650T>A c.105506A>T (p.Glu35169Val) c.79400A>T (p.Glu26467Val) c.79259A>T (p.Glu26420Val) c.105302A>T (p.Glu35101Val) c.100700A>T (p.Glu33567Val) c.100697A>T (p.Glu33566Val) c.97739A>T (p.Glu32580Val) c.79355A>T (p.Glu26452Val) c.100850A>T (p.Glu33617Val) c.100847A>T (p.Glu33616Val) c.100280A>T (p.Glu33427Val) c.97622A>T (p.Glu32541Val) c.97541A>T (p.Glu32514Val) c.79304A>T (p.Glu26435Val) c.69158A>T (p.Glu23053Val) | |
2 | g.178530082T>C | CA349405463 | TTN,TTN-AS1 | c.98705A>G (p.Glu32902Gly) c.79790A>G (p.Glu26597Gly) c.79589A>G (p.Glu26530Gly) c.79214A>G (p.Glu26405Gly) c.106409A>G (p.Glu35470Gly) c.101486A>G (p.Glu33829Gly) n.446+6446T>C n.220-5650T>C c.105506A>G (p.Glu35169Gly) c.79400A>G (p.Glu26467Gly) c.79259A>G (p.Glu26420Gly) c.105302A>G (p.Glu35101Gly) c.100700A>G (p.Glu33567Gly) c.100697A>G (p.Glu33566Gly) c.97739A>G (p.Glu32580Gly) c.79355A>G (p.Glu26452Gly) c.100850A>G (p.Glu33617Gly) c.100847A>G (p.Glu33616Gly) c.100280A>G (p.Glu33427Gly) c.97622A>G (p.Glu32541Gly) c.97541A>G (p.Glu32514Gly) c.79304A>G (p.Glu26435Gly) c.69158A>G (p.Glu23053Gly) | |
2 | g.178530082T>G | CA349405465 | TTN,TTN-AS1 | c.98705A>C (p.Glu32902Ala) c.79790A>C (p.Glu26597Ala) c.79589A>C (p.Glu26530Ala) c.79214A>C (p.Glu26405Ala) c.106409A>C (p.Glu35470Ala) c.101486A>C (p.Glu33829Ala) n.446+6446T>G n.220-5650T>G c.105506A>C (p.Glu35169Ala) c.79400A>C (p.Glu26467Ala) c.79259A>C (p.Glu26420Ala) c.105302A>C (p.Glu35101Ala) c.100700A>C (p.Glu33567Ala) c.100697A>C (p.Glu33566Ala) c.97739A>C (p.Glu32580Ala) c.79355A>C (p.Glu26452Ala) c.100850A>C (p.Glu33617Ala) c.100847A>C (p.Glu33616Ala) c.100280A>C (p.Glu33427Ala) c.97622A>C (p.Glu32541Ala) c.97541A>C (p.Glu32514Ala) c.79304A>C (p.Glu26435Ala) c.69158A>C (p.Glu23053Ala) | |
2 | g.178530083C>A | CA349405473 | TTN,TTN-AS1 | c.98704G>T (p.Glu32902Ter) c.79789G>T (p.Glu26597Ter) c.79588G>T (p.Glu26530Ter) c.79213G>T (p.Glu26405Ter) c.106408G>T (p.Glu35470Ter) c.101485G>T (p.Glu33829Ter) n.446+6447C>A n.220-5649C>A c.105505G>T (p.Glu35169Ter) c.79399G>T (p.Glu26467Ter) c.79258G>T (p.Glu26420Ter) c.105301G>T (p.Glu35101Ter) c.100699G>T (p.Glu33567Ter) c.100696G>T (p.Glu33566Ter) c.97738G>T (p.Glu32580Ter) c.79354G>T (p.Glu26452Ter) c.100849G>T (p.Glu33617Ter) c.100846G>T (p.Glu33616Ter) c.100279G>T (p.Glu33427Ter) c.97621G>T (p.Glu32541Ter) c.97540G>T (p.Glu32514Ter) c.79303G>T (p.Glu26435Ter) c.69157G>T (p.Glu23053Ter) | |
2 | g.178530083C= | CA1310511455 | TTN,TTN-AS1 | c.98704G= (p.Glu32902=) c.79789G= (p.Glu26597=) c.79588G= (p.Glu26530=) c.79213G= (p.Glu26405=) c.106408G= (p.Glu35470=) c.101485G= (p.Glu33829=) n.446+6447C= n.220-5649C= c.105505G= (p.Glu35169=) c.79399G= (p.Glu26467=) c.79258G= (p.Glu26420=) c.105301G= (p.Glu35101=) c.100699G= (p.Glu33567=) c.100696G= (p.Glu33566=) c.97738G= (p.Glu32580=) c.79354G= (p.Glu26452=) c.100849G= (p.Glu33617=) c.100846G= (p.Glu33616=) c.100279G= (p.Glu33427=) c.97621G= (p.Glu32541=) c.97540G= (p.Glu32514=) c.79303G= (p.Glu26435=) c.69157G= (p.Glu23053=) | |
2 | g.178530083C>G | CA349405472 | TTN,TTN-AS1 | c.98704G>C (p.Glu32902Gln) c.79789G>C (p.Glu26597Gln) c.79588G>C (p.Glu26530Gln) c.79213G>C (p.Glu26405Gln) c.106408G>C (p.Glu35470Gln) c.101485G>C (p.Glu33829Gln) n.446+6447C>G n.220-5649C>G c.105505G>C (p.Glu35169Gln) c.79399G>C (p.Glu26467Gln) c.79258G>C (p.Glu26420Gln) c.105301G>C (p.Glu35101Gln) c.100699G>C (p.Glu33567Gln) c.100696G>C (p.Glu33566Gln) c.97738G>C (p.Glu32580Gln) c.79354G>C (p.Glu26452Gln) c.100849G>C (p.Glu33617Gln) c.100846G>C (p.Glu33616Gln) c.100279G>C (p.Glu33427Gln) c.97621G>C (p.Glu32541Gln) c.97540G>C (p.Glu32514Gln) c.79303G>C (p.Glu26435Gln) c.69157G>C (p.Glu23053Gln) | |
2 | g.178530083C>T | CA349405470 | TTN,TTN-AS1 | c.98704G>A (p.Glu32902Lys) c.79789G>A (p.Glu26597Lys) c.79588G>A (p.Glu26530Lys) c.79213G>A (p.Glu26405Lys) c.106408G>A (p.Glu35470Lys) c.101485G>A (p.Glu33829Lys) n.446+6447C>T n.220-5649C>T c.105505G>A (p.Glu35169Lys) c.79399G>A (p.Glu26467Lys) c.79258G>A (p.Glu26420Lys) c.105301G>A (p.Glu35101Lys) c.100699G>A (p.Glu33567Lys) c.100696G>A (p.Glu33566Lys) c.97738G>A (p.Glu32580Lys) c.79354G>A (p.Glu26452Lys) c.100849G>A (p.Glu33617Lys) c.100846G>A (p.Glu33616Lys) c.100279G>A (p.Glu33427Lys) c.97621G>A (p.Glu32541Lys) c.97540G>A (p.Glu32514Lys) c.79303G>A (p.Glu26435Lys) c.69157G>A (p.Glu23053Lys) | |
2 | g.178530083_178530084del | CA2586970727 | TTN,TTN-AS1 | c.98703_98704del (p.Glu32902ArgfsTer11) c.79788_79789del (p.Glu26597ArgfsTer11) c.79587_79588del (p.Glu26530ArgfsTer11) c.79212_79213del (p.Glu26405ArgfsTer11) c.106407_106408del (p.Glu35470ArgfsTer11) c.101484_101485del (p.Glu33829ArgfsTer11) n.446+6447_446+6448del n.220-5649_220-5648del c.105504_105505del (p.Glu35169ArgfsTer11) c.79398_79399del (p.Glu26467ArgfsTer11) c.79257_79258del (p.Glu26420ArgfsTer11) c.105300_105301del (p.Glu35101ArgfsTer11) c.100698_100699del (p.Glu33567ArgfsTer11) c.100695_100696del (p.Glu33566ArgfsTer11) c.97737_97738del (p.Glu32580ArgfsTer11) c.79353_79354del (p.Glu26452ArgfsTer11) c.100848_100849del (p.Glu33617ArgfsTer11) c.100845_100846del (p.Glu33616ArgfsTer11) c.100278_100279del (p.Glu33427ArgfsTer11) c.97620_97621del (p.Glu32541ArgfsTer11) c.97539_97540del (p.Glu32514ArgfsTer11) c.79302_79303del (p.Glu26435ArgfsTer11) c.69156_69157del (p.Glu23053ArgfsTer11) | |
2 | g.178530083_178530084insCA | CA1310511457 | TTN,TTN-AS1 | c.98703_98704insTG (p.Glu32902TrpfsTer9) c.79788_79789insTG (p.Glu26597TrpfsTer9) c.79587_79588insTG (p.Glu26530TrpfsTer9) c.79212_79213insTG (p.Glu26405TrpfsTer9) c.106407_106408insTG (p.Glu35470TrpfsTer9) c.101484_101485insTG (p.Glu33829TrpfsTer9) n.446+6447_446+6448insCA n.220-5649_220-5648insCA c.105504_105505insTG (p.Glu35169TrpfsTer9) c.79398_79399insTG (p.Glu26467TrpfsTer9) c.79257_79258insTG (p.Glu26420TrpfsTer9) c.105300_105301insTG (p.Glu35101TrpfsTer9) c.100698_100699insTG (p.Glu33567TrpfsTer9) c.100695_100696insTG (p.Glu33566TrpfsTer9) c.97737_97738insTG (p.Glu32580TrpfsTer9) c.79353_79354insTG (p.Glu26452TrpfsTer9) c.100848_100849insTG (p.Glu33617TrpfsTer9) c.100845_100846insTG (p.Glu33616TrpfsTer9) c.100278_100279insTG (p.Glu33427TrpfsTer9) c.97620_97621insTG (p.Glu32541TrpfsTer9) c.97539_97540insTG (p.Glu32514TrpfsTer9) c.79302_79303insTG (p.Glu26435TrpfsTer9) c.69156_69157insTG (p.Glu23053TrpfsTer9) | dbSNP |
2 | g.178530084A>C | CA430093992 | TTN,TTN-AS1 | c.98703T>G (p.Ser32901=) c.79788T>G (p.Ser26596=) c.79587T>G (p.Ser26529=) c.79212T>G (p.Ser26404=) c.106407T>G (p.Ser35469=) c.101484T>G (p.Ser33828=) n.446+6448A>C n.220-5648A>C c.105504T>G (p.Ser35168=) c.79398T>G (p.Ser26466=) c.79257T>G (p.Ser26419=) c.105300T>G (p.Ser35100=) c.100698T>G (p.Ser33566=) c.100695T>G (p.Ser33565=) c.97737T>G (p.Ser32579=) c.79353T>G (p.Ser26451=) c.100848T>G (p.Ser33616=) c.100845T>G (p.Ser33615=) c.100278T>G (p.Ser33426=) c.97620T>G (p.Ser32540=) c.97539T>G (p.Ser32513=) c.79302T>G (p.Ser26434=) c.69156T>G (p.Ser23052=) | |
2 | g.178530084A>G | CA430093993 | TTN,TTN-AS1 | c.98703T>C (p.Ser32901=) c.79788T>C (p.Ser26596=) c.79587T>C (p.Ser26529=) c.79212T>C (p.Ser26404=) c.106407T>C (p.Ser35469=) c.101484T>C (p.Ser33828=) n.446+6448A>G n.220-5648A>G c.105504T>C (p.Ser35168=) c.79398T>C (p.Ser26466=) c.79257T>C (p.Ser26419=) c.105300T>C (p.Ser35100=) c.100698T>C (p.Ser33566=) c.100695T>C (p.Ser33565=) c.97737T>C (p.Ser32579=) c.79353T>C (p.Ser26451=) c.100848T>C (p.Ser33616=) c.100845T>C (p.Ser33615=) c.100278T>C (p.Ser33426=) c.97620T>C (p.Ser32540=) c.97539T>C (p.Ser32513=) c.79302T>C (p.Ser26434=) c.69156T>C (p.Ser23052=) | |
2 | g.178530084A>T | CA430093995 | TTN,TTN-AS1 | c.98703T>A (p.Ser32901=) c.79788T>A (p.Ser26596=) c.79587T>A (p.Ser26529=) c.79212T>A (p.Ser26404=) c.106407T>A (p.Ser35469=) c.101484T>A (p.Ser33828=) n.446+6448A>T n.220-5648A>T c.105504T>A (p.Ser35168=) c.79398T>A (p.Ser26466=) c.79257T>A (p.Ser26419=) c.105300T>A (p.Ser35100=) c.100698T>A (p.Ser33566=) c.100695T>A (p.Ser33565=) c.97737T>A (p.Ser32579=) c.79353T>A (p.Ser26451=) c.100848T>A (p.Ser33616=) c.100845T>A (p.Ser33615=) c.100278T>A (p.Ser33426=) c.97620T>A (p.Ser32540=) c.97539T>A (p.Ser32513=) c.79302T>A (p.Ser26434=) c.69156T>A (p.Ser23052=) | |
2 | g.178530084_178530087delinsAGAG | CA1310511458 | TTN,TTN-AS1 | c.98700_98703delinsCTCT (p.Leu32900=) c.79785_79788delinsCTCT (p.Leu26595=) c.79584_79587delinsCTCT (p.Leu26528=) c.79209_79212delinsCTCT (p.Leu26403=) c.106404_106407delinsCTCT (p.Leu35468=) c.101481_101484delinsCTCT (p.Leu33827=) n.446+6448_446+6451delinsAGAG n.220-5648_220-5645delinsAGAG c.105501_105504delinsCTCT (p.Leu35167=) c.79395_79398delinsCTCT (p.Leu26465=) c.79254_79257delinsCTCT (p.Leu26418=) c.105297_105300delinsCTCT (p.Leu35099=) c.100695_100698delinsCTCT (p.Leu33565=) c.100692_100695delinsCTCT (p.Leu33564=) c.97734_97737delinsCTCT (p.Leu32578=) c.79350_79353delinsCTCT (p.Leu26450=) c.100845_100848delinsCTCT (p.Leu33615=) c.100842_100845delinsCTCT (p.Leu33614=) c.100275_100278delinsCTCT (p.Leu33425=) c.97617_97620delinsCTCT (p.Leu32539=) c.97536_97539delinsCTCT (p.Leu32512=) c.79299_79302delinsCTCT (p.Leu26433=) c.69153_69156delinsCTCT (p.Leu23051=) | |
2 | g.178530088_178530089del | CA2586970729 | TTN,TTN-AS1 | c.98702_98703del (p.Ser32901Ter) c.79787_79788del (p.Ser26596Ter) c.79586_79587del (p.Ser26529Ter) c.79211_79212del (p.Ser26404Ter) c.106406_106407del (p.Ser35469Ter) c.101483_101484del (p.Ser33828Ter) n.446+6452_446+6453del n.220-5644_220-5643del c.105503_105504del (p.Ser35168Ter) c.79397_79398del (p.Ser26466Ter) c.79256_79257del (p.Ser26419Ter) c.105299_105300del (p.Ser35100Ter) c.100697_100698del (p.Ser33566Ter) c.100694_100695del (p.Ser33565Ter) c.97736_97737del (p.Ser32579Ter) c.79352_79353del (p.Ser26451Ter) c.100847_100848del (p.Ser33616Ter) c.100844_100845del (p.Ser33615Ter) c.100277_100278del (p.Ser33426Ter) c.97619_97620del (p.Ser32540Ter) c.97538_97539del (p.Ser32513Ter) c.79301_79302del (p.Ser26434Ter) c.69155_69156del (p.Ser23052Ter) | |
2 | g.178530085G>A | CA349405476 | TTN,TTN-AS1 | c.98702C>T (p.Ser32901Phe) c.79787C>T (p.Ser26596Phe) c.79586C>T (p.Ser26529Phe) c.79211C>T (p.Ser26404Phe) c.106406C>T (p.Ser35469Phe) c.101483C>T (p.Ser33828Phe) n.446+6449G>A n.220-5647G>A c.105503C>T (p.Ser35168Phe) c.79397C>T (p.Ser26466Phe) c.79256C>T (p.Ser26419Phe) c.105299C>T (p.Ser35100Phe) c.100697C>T (p.Ser33566Phe) c.100694C>T (p.Ser33565Phe) c.97736C>T (p.Ser32579Phe) c.79352C>T (p.Ser26451Phe) c.100847C>T (p.Ser33616Phe) c.100844C>T (p.Ser33615Phe) c.100277C>T (p.Ser33426Phe) c.97619C>T (p.Ser32540Phe) c.97538C>T (p.Ser32513Phe) c.79301C>T (p.Ser26434Phe) c.69155C>T (p.Ser23052Phe) | |
2 | g.178530085G>C | CA349405483 | TTN,TTN-AS1 | c.98702C>G (p.Ser32901Cys) c.79787C>G (p.Ser26596Cys) c.79586C>G (p.Ser26529Cys) c.79211C>G (p.Ser26404Cys) c.106406C>G (p.Ser35469Cys) c.101483C>G (p.Ser33828Cys) n.446+6449G>C n.220-5647G>C c.105503C>G (p.Ser35168Cys) c.79397C>G (p.Ser26466Cys) c.79256C>G (p.Ser26419Cys) c.105299C>G (p.Ser35100Cys) c.100697C>G (p.Ser33566Cys) c.100694C>G (p.Ser33565Cys) c.97736C>G (p.Ser32579Cys) c.79352C>G (p.Ser26451Cys) c.100847C>G (p.Ser33616Cys) c.100844C>G (p.Ser33615Cys) c.100277C>G (p.Ser33426Cys) c.97619C>G (p.Ser32540Cys) c.97538C>G (p.Ser32513Cys) c.79301C>G (p.Ser26434Cys) c.69155C>G (p.Ser23052Cys) | |
2 | g.178530085G>T | CA349405484 | TTN,TTN-AS1 | c.98702C>A (p.Ser32901Tyr) c.79787C>A (p.Ser26596Tyr) c.79586C>A (p.Ser26529Tyr) c.79211C>A (p.Ser26404Tyr) c.106406C>A (p.Ser35469Tyr) c.101483C>A (p.Ser33828Tyr) n.446+6449G>T n.220-5647G>T c.105503C>A (p.Ser35168Tyr) c.79397C>A (p.Ser26466Tyr) c.79256C>A (p.Ser26419Tyr) c.105299C>A (p.Ser35100Tyr) c.100697C>A (p.Ser33566Tyr) c.100694C>A (p.Ser33565Tyr) c.97736C>A (p.Ser32579Tyr) c.79352C>A (p.Ser26451Tyr) c.100847C>A (p.Ser33616Tyr) c.100844C>A (p.Ser33615Tyr) c.100277C>A (p.Ser33426Tyr) c.97619C>A (p.Ser32540Tyr) c.97538C>A (p.Ser32513Tyr) c.79301C>A (p.Ser26434Tyr) c.69155C>A (p.Ser23052Tyr) | |
2 | g.178530085_178530087del | CA1310511460 | TTN,TTN-AS1 | c.98700_98702del (p.Ser32901del) c.79785_79787del (p.Ser26596del) c.79584_79586del (p.Ser26529del) c.79209_79211del (p.Ser26404del) c.106404_106406del (p.Ser35469del) c.101481_101483del (p.Ser33828del) n.446+6449_446+6451del n.220-5647_220-5645del c.105501_105503del (p.Ser35168del) c.79395_79397del (p.Ser26466del) c.79254_79256del (p.Ser26419del) c.105297_105299del (p.Ser35100del) c.100695_100697del (p.Ser33566del) c.100692_100694del (p.Ser33565del) c.97734_97736del (p.Ser32579del) c.79350_79352del (p.Ser26451del) c.100845_100847del (p.Ser33616del) c.100842_100844del (p.Ser33615del) c.100275_100277del (p.Ser33426del) c.97617_97619del (p.Ser32540del) c.97536_97538del (p.Ser32513del) c.79299_79301del (p.Ser26434del) c.69153_69155del (p.Ser23052del) | dbSNP |
2 | g.178530086A>C | CA349405487 | TTN,TTN-AS1 | c.98701T>G (p.Ser32901Ala) c.79786T>G (p.Ser26596Ala) c.79585T>G (p.Ser26529Ala) c.79210T>G (p.Ser26404Ala) c.106405T>G (p.Ser35469Ala) c.101482T>G (p.Ser33828Ala) n.446+6450A>C n.220-5646A>C c.105502T>G (p.Ser35168Ala) c.79396T>G (p.Ser26466Ala) c.79255T>G (p.Ser26419Ala) c.105298T>G (p.Ser35100Ala) c.100696T>G (p.Ser33566Ala) c.100693T>G (p.Ser33565Ala) c.97735T>G (p.Ser32579Ala) c.79351T>G (p.Ser26451Ala) c.100846T>G (p.Ser33616Ala) c.100843T>G (p.Ser33615Ala) c.100276T>G (p.Ser33426Ala) c.97618T>G (p.Ser32540Ala) c.97537T>G (p.Ser32513Ala) c.79300T>G (p.Ser26434Ala) c.69154T>G (p.Ser23052Ala) | |
2 | g.178530086A>G | CA349405488 | TTN,TTN-AS1 | c.98701T>C (p.Ser32901Pro) c.79786T>C (p.Ser26596Pro) c.79585T>C (p.Ser26529Pro) c.79210T>C (p.Ser26404Pro) c.106405T>C (p.Ser35469Pro) c.101482T>C (p.Ser33828Pro) n.446+6450A>G n.220-5646A>G c.105502T>C (p.Ser35168Pro) c.79396T>C (p.Ser26466Pro) c.79255T>C (p.Ser26419Pro) c.105298T>C (p.Ser35100Pro) c.100696T>C (p.Ser33566Pro) c.100693T>C (p.Ser33565Pro) c.97735T>C (p.Ser32579Pro) c.79351T>C (p.Ser26451Pro) c.100846T>C (p.Ser33616Pro) c.100843T>C (p.Ser33615Pro) c.100276T>C (p.Ser33426Pro) c.97618T>C (p.Ser32540Pro) c.97537T>C (p.Ser32513Pro) c.79300T>C (p.Ser26434Pro) c.69154T>C (p.Ser23052Pro) | gnomAD v4 |
2 | g.178530086A>T | CA349405489 | TTN,TTN-AS1 | c.98701T>A (p.Ser32901Thr) c.79786T>A (p.Ser26596Thr) c.79585T>A (p.Ser26529Thr) c.79210T>A (p.Ser26404Thr) c.106405T>A (p.Ser35469Thr) c.101482T>A (p.Ser33828Thr) n.446+6450A>T n.220-5646A>T c.105502T>A (p.Ser35168Thr) c.79396T>A (p.Ser26466Thr) c.79255T>A (p.Ser26419Thr) c.105298T>A (p.Ser35100Thr) c.100696T>A (p.Ser33566Thr) c.100693T>A (p.Ser33565Thr) c.97735T>A (p.Ser32579Thr) c.79351T>A (p.Ser26451Thr) c.100846T>A (p.Ser33616Thr) c.100843T>A (p.Ser33615Thr) c.100276T>A (p.Ser33426Thr) c.97618T>A (p.Ser32540Thr) c.97537T>A (p.Ser32513Thr) c.79300T>A (p.Ser26434Thr) c.69154T>A (p.Ser23052Thr) | |
2 | g.178530087G>A | CA430094010 | TTN,TTN-AS1 | c.98700C>T (p.Leu32900=) c.79785C>T (p.Leu26595=) c.79584C>T (p.Leu26528=) c.79209C>T (p.Leu26403=) c.106404C>T (p.Leu35468=) c.101481C>T (p.Leu33827=) n.446+6451G>A n.220-5645G>A c.105501C>T (p.Leu35167=) c.79395C>T (p.Leu26465=) c.79254C>T (p.Leu26418=) c.105297C>T (p.Leu35099=) c.100695C>T (p.Leu33565=) c.100692C>T (p.Leu33564=) c.97734C>T (p.Leu32578=) c.79350C>T (p.Leu26450=) c.100845C>T (p.Leu33615=) c.100842C>T (p.Leu33614=) c.100275C>T (p.Leu33425=) c.97617C>T (p.Leu32539=) c.97536C>T (p.Leu32512=) c.79299C>T (p.Leu26433=) c.69153C>T (p.Leu23051=) | |
2 | g.178530087G>C | CA430094013 | TTN,TTN-AS1 | c.98700C>G (p.Leu32900=) c.79785C>G (p.Leu26595=) c.79584C>G (p.Leu26528=) c.79209C>G (p.Leu26403=) c.106404C>G (p.Leu35468=) c.101481C>G (p.Leu33827=) n.446+6451G>C n.220-5645G>C c.105501C>G (p.Leu35167=) c.79395C>G (p.Leu26465=) c.79254C>G (p.Leu26418=) c.105297C>G (p.Leu35099=) c.100695C>G (p.Leu33565=) c.100692C>G (p.Leu33564=) c.97734C>G (p.Leu32578=) c.79350C>G (p.Leu26450=) c.100845C>G (p.Leu33615=) c.100842C>G (p.Leu33614=) c.100275C>G (p.Leu33425=) c.97617C>G (p.Leu32539=) c.97536C>G (p.Leu32512=) c.79299C>G (p.Leu26433=) c.69153C>G (p.Leu23051=) | |
2 | g.178530087G>T | CA430094014 | TTN,TTN-AS1 | c.98700C>A (p.Leu32900=) c.79785C>A (p.Leu26595=) c.79584C>A (p.Leu26528=) c.79209C>A (p.Leu26403=) c.106404C>A (p.Leu35468=) c.101481C>A (p.Leu33827=) n.446+6451G>T n.220-5645G>T c.105501C>A (p.Leu35167=) c.79395C>A (p.Leu26465=) c.79254C>A (p.Leu26418=) c.105297C>A (p.Leu35099=) c.100695C>A (p.Leu33565=) c.100692C>A (p.Leu33564=) c.97734C>A (p.Leu32578=) c.79350C>A (p.Leu26450=) c.100845C>A (p.Leu33615=) c.100842C>A (p.Leu33614=) c.100275C>A (p.Leu33425=) c.97617C>A (p.Leu32539=) c.97536C>A (p.Leu32512=) c.79299C>A (p.Leu26433=) c.69153C>A (p.Leu23051=) | ClinVar COSMIC COSMIC COSMIC COSMIC |
2 | g.178530088A= | CA1310511466 | TTN,TTN-AS1 | c.98699T= (p.Leu32900=) c.79784T= (p.Leu26595=) c.79583T= (p.Leu26528=) c.79208T= (p.Leu26403=) c.106403T= (p.Leu35468=) c.101480T= (p.Leu33827=) n.446+6452A= n.220-5644A= c.105500T= (p.Leu35167=) c.79394T= (p.Leu26465=) c.79253T= (p.Leu26418=) c.105296T= (p.Leu35099=) c.100694T= (p.Leu33565=) c.100691T= (p.Leu33564=) c.97733T= (p.Leu32578=) c.79349T= (p.Leu26450=) c.100844T= (p.Leu33615=) c.100841T= (p.Leu33614=) c.100274T= (p.Leu33425=) c.97616T= (p.Leu32539=) c.97535T= (p.Leu32512=) c.79298T= (p.Leu26433=) c.69152T= (p.Leu23051=) | |
2 | g.178530088A>C | CA349405492 | TTN,TTN-AS1 | c.98699T>G (p.Leu32900Arg) c.79784T>G (p.Leu26595Arg) c.79583T>G (p.Leu26528Arg) c.79208T>G (p.Leu26403Arg) c.106403T>G (p.Leu35468Arg) c.101480T>G (p.Leu33827Arg) n.446+6452A>C n.220-5644A>C c.105500T>G (p.Leu35167Arg) c.79394T>G (p.Leu26465Arg) c.79253T>G (p.Leu26418Arg) c.105296T>G (p.Leu35099Arg) c.100694T>G (p.Leu33565Arg) c.100691T>G (p.Leu33564Arg) c.97733T>G (p.Leu32578Arg) c.79349T>G (p.Leu26450Arg) c.100844T>G (p.Leu33615Arg) c.100841T>G (p.Leu33614Arg) c.100274T>G (p.Leu33425Arg) c.97616T>G (p.Leu32539Arg) c.97535T>G (p.Leu32512Arg) c.79298T>G (p.Leu26433Arg) c.69152T>G (p.Leu23051Arg) | |
2 | g.178530088A>G | CA349405495 | TTN,TTN-AS1 | c.98699T>C (p.Leu32900Pro) c.79784T>C (p.Leu26595Pro) c.79583T>C (p.Leu26528Pro) c.79208T>C (p.Leu26403Pro) c.106403T>C (p.Leu35468Pro) c.101480T>C (p.Leu33827Pro) n.446+6452A>G n.220-5644A>G c.105500T>C (p.Leu35167Pro) c.79394T>C (p.Leu26465Pro) c.79253T>C (p.Leu26418Pro) c.105296T>C (p.Leu35099Pro) c.100694T>C (p.Leu33565Pro) c.100691T>C (p.Leu33564Pro) c.97733T>C (p.Leu32578Pro) c.79349T>C (p.Leu26450Pro) c.100844T>C (p.Leu33615Pro) c.100841T>C (p.Leu33614Pro) c.100274T>C (p.Leu33425Pro) c.97616T>C (p.Leu32539Pro) c.97535T>C (p.Leu32512Pro) c.79298T>C (p.Leu26433Pro) c.69152T>C (p.Leu23051Pro) | gnomAD v4 |
2 | g.178530088A>T | CA60953065 | TTN,TTN-AS1 | c.98699T>A (p.Leu32900His) c.79784T>A (p.Leu26595His) c.79583T>A (p.Leu26528His) c.79208T>A (p.Leu26403His) c.106403T>A (p.Leu35468His) c.101480T>A (p.Leu33827His) n.446+6452A>T n.220-5644A>T c.105500T>A (p.Leu35167His) c.79394T>A (p.Leu26465His) c.79253T>A (p.Leu26418His) c.105296T>A (p.Leu35099His) c.100694T>A (p.Leu33565His) c.100691T>A (p.Leu33564His) c.97733T>A (p.Leu32578His) c.79349T>A (p.Leu26450His) c.100844T>A (p.Leu33615His) c.100841T>A (p.Leu33614His) c.100274T>A (p.Leu33425His) c.97616T>A (p.Leu32539His) c.97535T>A (p.Leu32512His) c.79298T>A (p.Leu26433His) c.69152T>A (p.Leu23051His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530089G>A | CA349405500 | TTN,TTN-AS1 | c.98698C>T (p.Leu32900Phe) c.79783C>T (p.Leu26595Phe) c.79582C>T (p.Leu26528Phe) c.79207C>T (p.Leu26403Phe) c.106402C>T (p.Leu35468Phe) c.101479C>T (p.Leu33827Phe) n.446+6453G>A n.220-5643G>A c.105499C>T (p.Leu35167Phe) c.79393C>T (p.Leu26465Phe) c.79252C>T (p.Leu26418Phe) c.105295C>T (p.Leu35099Phe) c.100693C>T (p.Leu33565Phe) c.100690C>T (p.Leu33564Phe) c.97732C>T (p.Leu32578Phe) c.79348C>T (p.Leu26450Phe) c.100843C>T (p.Leu33615Phe) c.100840C>T (p.Leu33614Phe) c.100273C>T (p.Leu33425Phe) c.97615C>T (p.Leu32539Phe) c.97534C>T (p.Leu32512Phe) c.79297C>T (p.Leu26433Phe) c.69151C>T (p.Leu23051Phe) | dbSNP |
2 | g.178530089G>C | CA349405502 | TTN,TTN-AS1 | c.98698C>G (p.Leu32900Val) c.79783C>G (p.Leu26595Val) c.79582C>G (p.Leu26528Val) c.79207C>G (p.Leu26403Val) c.106402C>G (p.Leu35468Val) c.101479C>G (p.Leu33827Val) n.446+6453G>C n.220-5643G>C c.105499C>G (p.Leu35167Val) c.79393C>G (p.Leu26465Val) c.79252C>G (p.Leu26418Val) c.105295C>G (p.Leu35099Val) c.100693C>G (p.Leu33565Val) c.100690C>G (p.Leu33564Val) c.97732C>G (p.Leu32578Val) c.79348C>G (p.Leu26450Val) c.100843C>G (p.Leu33615Val) c.100840C>G (p.Leu33614Val) c.100273C>G (p.Leu33425Val) c.97615C>G (p.Leu32539Val) c.97534C>G (p.Leu32512Val) c.79297C>G (p.Leu26433Val) c.69151C>G (p.Leu23051Val) | ClinVar |
2 | g.178530089G= | CA1310511470 | TTN,TTN-AS1 | c.98698C= (p.Leu32900=) c.79783C= (p.Leu26595=) c.79582C= (p.Leu26528=) c.79207C= (p.Leu26403=) c.106402C= (p.Leu35468=) c.101479C= (p.Leu33827=) n.446+6453G= n.220-5643G= c.105499C= (p.Leu35167=) c.79393C= (p.Leu26465=) c.79252C= (p.Leu26418=) c.105295C= (p.Leu35099=) c.100693C= (p.Leu33565=) c.100690C= (p.Leu33564=) c.97732C= (p.Leu32578=) c.79348C= (p.Leu26450=) c.100843C= (p.Leu33615=) c.100840C= (p.Leu33614=) c.100273C= (p.Leu33425=) c.97615C= (p.Leu32539=) c.97534C= (p.Leu32512=) c.79297C= (p.Leu26433=) c.69151C= (p.Leu23051=) | |
2 | g.178530089G>T | CA349405507 | TTN,TTN-AS1 | c.98698C>A (p.Leu32900Ile) c.79783C>A (p.Leu26595Ile) c.79582C>A (p.Leu26528Ile) c.79207C>A (p.Leu26403Ile) c.106402C>A (p.Leu35468Ile) c.101479C>A (p.Leu33827Ile) n.446+6453G>T n.220-5643G>T c.105499C>A (p.Leu35167Ile) c.79393C>A (p.Leu26465Ile) c.79252C>A (p.Leu26418Ile) c.105295C>A (p.Leu35099Ile) c.100693C>A (p.Leu33565Ile) c.100690C>A (p.Leu33564Ile) c.97732C>A (p.Leu32578Ile) c.79348C>A (p.Leu26450Ile) c.100843C>A (p.Leu33615Ile) c.100840C>A (p.Leu33614Ile) c.100273C>A (p.Leu33425Ile) c.97615C>A (p.Leu32539Ile) c.97534C>A (p.Leu32512Ile) c.79297C>A (p.Leu26433Ile) c.69151C>A (p.Leu23051Ile) | dbSNP |
2 | g.178530090T>A | CA349405511 | TTN,TTN-AS1 | c.98697A>T (p.Lys32899Asn) c.79782A>T (p.Lys26594Asn) c.79581A>T (p.Lys26527Asn) c.79206A>T (p.Lys26402Asn) c.106401A>T (p.Lys35467Asn) c.101478A>T (p.Lys33826Asn) n.446+6454T>A n.220-5642T>A c.105498A>T (p.Lys35166Asn) c.79392A>T (p.Lys26464Asn) c.79251A>T (p.Lys26417Asn) c.105294A>T (p.Lys35098Asn) c.100692A>T (p.Lys33564Asn) c.100689A>T (p.Lys33563Asn) c.97731A>T (p.Lys32577Asn) c.79347A>T (p.Lys26449Asn) c.100842A>T (p.Lys33614Asn) c.100839A>T (p.Lys33613Asn) c.100272A>T (p.Lys33424Asn) c.97614A>T (p.Lys32538Asn) c.97533A>T (p.Lys32511Asn) c.79296A>T (p.Lys26432Asn) c.69150A>T (p.Lys23050Asn) | |
2 | g.178530090T>C | CA430094025 | TTN,TTN-AS1 | c.98697A>G (p.Lys32899=) c.79782A>G (p.Lys26594=) c.79581A>G (p.Lys26527=) c.79206A>G (p.Lys26402=) c.106401A>G (p.Lys35467=) c.101478A>G (p.Lys33826=) n.446+6454T>C n.220-5642T>C c.105498A>G (p.Lys35166=) c.79392A>G (p.Lys26464=) c.79251A>G (p.Lys26417=) c.105294A>G (p.Lys35098=) c.100692A>G (p.Lys33564=) c.100689A>G (p.Lys33563=) c.97731A>G (p.Lys32577=) c.79347A>G (p.Lys26449=) c.100842A>G (p.Lys33614=) c.100839A>G (p.Lys33613=) c.100272A>G (p.Lys33424=) c.97614A>G (p.Lys32538=) c.97533A>G (p.Lys32511=) c.79296A>G (p.Lys26432=) c.69150A>G (p.Lys23050=) | |
2 | g.178530090T>G | CA349405514 | TTN,TTN-AS1 | c.98697A>C (p.Lys32899Asn) c.79782A>C (p.Lys26594Asn) c.79581A>C (p.Lys26527Asn) c.79206A>C (p.Lys26402Asn) c.106401A>C (p.Lys35467Asn) c.101478A>C (p.Lys33826Asn) n.446+6454T>G n.220-5642T>G c.105498A>C (p.Lys35166Asn) c.79392A>C (p.Lys26464Asn) c.79251A>C (p.Lys26417Asn) c.105294A>C (p.Lys35098Asn) c.100692A>C (p.Lys33564Asn) c.100689A>C (p.Lys33563Asn) c.97731A>C (p.Lys32577Asn) c.79347A>C (p.Lys26449Asn) c.100842A>C (p.Lys33614Asn) c.100839A>C (p.Lys33613Asn) c.100272A>C (p.Lys33424Asn) c.97614A>C (p.Lys32538Asn) c.97533A>C (p.Lys32511Asn) c.79296A>C (p.Lys26432Asn) c.69150A>C (p.Lys23050Asn) | |
2 | g.178530091T>A | CA349405519 | TTN,TTN-AS1 | c.98696A>T (p.Lys32899Ile) c.79781A>T (p.Lys26594Ile) c.79580A>T (p.Lys26527Ile) c.79205A>T (p.Lys26402Ile) c.106400A>T (p.Lys35467Ile) c.101477A>T (p.Lys33826Ile) n.446+6455T>A n.220-5641T>A c.105497A>T (p.Lys35166Ile) c.79391A>T (p.Lys26464Ile) c.79250A>T (p.Lys26417Ile) c.105293A>T (p.Lys35098Ile) c.100691A>T (p.Lys33564Ile) c.100688A>T (p.Lys33563Ile) c.97730A>T (p.Lys32577Ile) c.79346A>T (p.Lys26449Ile) c.100841A>T (p.Lys33614Ile) c.100838A>T (p.Lys33613Ile) c.100271A>T (p.Lys33424Ile) c.97613A>T (p.Lys32538Ile) c.97532A>T (p.Lys32511Ile) c.79295A>T (p.Lys26432Ile) c.69149A>T (p.Lys23050Ile) | |
2 | g.178530091T>C | CA349405520 | TTN,TTN-AS1 | c.98696A>G (p.Lys32899Arg) c.79781A>G (p.Lys26594Arg) c.79580A>G (p.Lys26527Arg) c.79205A>G (p.Lys26402Arg) c.106400A>G (p.Lys35467Arg) c.101477A>G (p.Lys33826Arg) n.446+6455T>C n.220-5641T>C c.105497A>G (p.Lys35166Arg) c.79391A>G (p.Lys26464Arg) c.79250A>G (p.Lys26417Arg) c.105293A>G (p.Lys35098Arg) c.100691A>G (p.Lys33564Arg) c.100688A>G (p.Lys33563Arg) c.97730A>G (p.Lys32577Arg) c.79346A>G (p.Lys26449Arg) c.100841A>G (p.Lys33614Arg) c.100838A>G (p.Lys33613Arg) c.100271A>G (p.Lys33424Arg) c.97613A>G (p.Lys32538Arg) c.97532A>G (p.Lys32511Arg) c.79295A>G (p.Lys26432Arg) c.69149A>G (p.Lys23050Arg) | |
2 | g.178530091T>G | CA349405516 | TTN,TTN-AS1 | c.98696A>C (p.Lys32899Thr) c.79781A>C (p.Lys26594Thr) c.79580A>C (p.Lys26527Thr) c.79205A>C (p.Lys26402Thr) c.106400A>C (p.Lys35467Thr) c.101477A>C (p.Lys33826Thr) n.446+6455T>G n.220-5641T>G c.105497A>C (p.Lys35166Thr) c.79391A>C (p.Lys26464Thr) c.79250A>C (p.Lys26417Thr) c.105293A>C (p.Lys35098Thr) c.100691A>C (p.Lys33564Thr) c.100688A>C (p.Lys33563Thr) c.97730A>C (p.Lys32577Thr) c.79346A>C (p.Lys26449Thr) c.100841A>C (p.Lys33614Thr) c.100838A>C (p.Lys33613Thr) c.100271A>C (p.Lys33424Thr) c.97613A>C (p.Lys32538Thr) c.97532A>C (p.Lys32511Thr) c.79295A>C (p.Lys26432Thr) c.69149A>C (p.Lys23050Thr) | |
2 | g.178530092T>A | CA349405523 | TTN,TTN-AS1 | c.98695A>T (p.Lys32899Ter) c.79780A>T (p.Lys26594Ter) c.79579A>T (p.Lys26527Ter) c.79204A>T (p.Lys26402Ter) c.106399A>T (p.Lys35467Ter) c.101476A>T (p.Lys33826Ter) n.446+6456T>A n.220-5640T>A c.105496A>T (p.Lys35166Ter) c.79390A>T (p.Lys26464Ter) c.79249A>T (p.Lys26417Ter) c.105292A>T (p.Lys35098Ter) c.100690A>T (p.Lys33564Ter) c.100687A>T (p.Lys33563Ter) c.97729A>T (p.Lys32577Ter) c.79345A>T (p.Lys26449Ter) c.100840A>T (p.Lys33614Ter) c.100837A>T (p.Lys33613Ter) c.100270A>T (p.Lys33424Ter) c.97612A>T (p.Lys32538Ter) c.97531A>T (p.Lys32511Ter) c.79294A>T (p.Lys26432Ter) c.69148A>T (p.Lys23050Ter) | |
2 | g.178530092T>C | CA349405524 | TTN,TTN-AS1 | c.98695A>G (p.Lys32899Glu) c.79780A>G (p.Lys26594Glu) c.79579A>G (p.Lys26527Glu) c.79204A>G (p.Lys26402Glu) c.106399A>G (p.Lys35467Glu) c.101476A>G (p.Lys33826Glu) n.446+6456T>C n.220-5640T>C c.105496A>G (p.Lys35166Glu) c.79390A>G (p.Lys26464Glu) c.79249A>G (p.Lys26417Glu) c.105292A>G (p.Lys35098Glu) c.100690A>G (p.Lys33564Glu) c.100687A>G (p.Lys33563Glu) c.97729A>G (p.Lys32577Glu) c.79345A>G (p.Lys26449Glu) c.100840A>G (p.Lys33614Glu) c.100837A>G (p.Lys33613Glu) c.100270A>G (p.Lys33424Glu) c.97612A>G (p.Lys32538Glu) c.97531A>G (p.Lys32511Glu) c.79294A>G (p.Lys26432Glu) c.69148A>G (p.Lys23050Glu) | |
2 | g.178530092T>G | CA349405525 | TTN,TTN-AS1 | c.98695A>C (p.Lys32899Gln) c.79780A>C (p.Lys26594Gln) c.79579A>C (p.Lys26527Gln) c.79204A>C (p.Lys26402Gln) c.106399A>C (p.Lys35467Gln) c.101476A>C (p.Lys33826Gln) n.446+6456T>G n.220-5640T>G c.105496A>C (p.Lys35166Gln) c.79390A>C (p.Lys26464Gln) c.79249A>C (p.Lys26417Gln) c.105292A>C (p.Lys35098Gln) c.100690A>C (p.Lys33564Gln) c.100687A>C (p.Lys33563Gln) c.97729A>C (p.Lys32577Gln) c.79345A>C (p.Lys26449Gln) c.100840A>C (p.Lys33614Gln) c.100837A>C (p.Lys33613Gln) c.100270A>C (p.Lys33424Gln) c.97612A>C (p.Lys32538Gln) c.97531A>C (p.Lys32511Gln) c.79294A>C (p.Lys26432Gln) c.69148A>C (p.Lys23050Gln) | |
2 | g.178530093A= | CA1310511473 | TTN,TTN-AS1 | c.98694T= (p.Tyr32898=) c.79779T= (p.Tyr26593=) c.79578T= (p.Tyr26526=) c.79203T= (p.Tyr26401=) c.106398T= (p.Tyr35466=) c.101475T= (p.Tyr33825=) n.446+6457A= n.220-5639A= c.105495T= (p.Tyr35165=) c.79389T= (p.Tyr26463=) c.79248T= (p.Tyr26416=) c.105291T= (p.Tyr35097=) c.100689T= (p.Tyr33563=) c.100686T= (p.Tyr33562=) c.97728T= (p.Tyr32576=) c.79344T= (p.Tyr26448=) c.100839T= (p.Tyr33613=) c.100836T= (p.Tyr33612=) c.100269T= (p.Tyr33423=) c.97611T= (p.Tyr32537=) c.97530T= (p.Tyr32510=) c.79293T= (p.Tyr26431=) c.69147T= (p.Tyr23049=) | |
2 | g.178530093A>C | CA349405526 | TTN,TTN-AS1 | c.98694T>G (p.Tyr32898Ter) c.79779T>G (p.Tyr26593Ter) c.79578T>G (p.Tyr26526Ter) c.79203T>G (p.Tyr26401Ter) c.106398T>G (p.Tyr35466Ter) c.101475T>G (p.Tyr33825Ter) n.446+6457A>C n.220-5639A>C c.105495T>G (p.Tyr35165Ter) c.79389T>G (p.Tyr26463Ter) c.79248T>G (p.Tyr26416Ter) c.105291T>G (p.Tyr35097Ter) c.100689T>G (p.Tyr33563Ter) c.100686T>G (p.Tyr33562Ter) c.97728T>G (p.Tyr32576Ter) c.79344T>G (p.Tyr26448Ter) c.100839T>G (p.Tyr33613Ter) c.100836T>G (p.Tyr33612Ter) c.100269T>G (p.Tyr33423Ter) c.97611T>G (p.Tyr32537Ter) c.97530T>G (p.Tyr32510Ter) c.79293T>G (p.Tyr26431Ter) c.69147T>G (p.Tyr23049Ter) | |
2 | g.178530093A>G | CA430094026 | TTN,TTN-AS1 | c.98694T>C (p.Tyr32898=) c.79779T>C (p.Tyr26593=) c.79578T>C (p.Tyr26526=) c.79203T>C (p.Tyr26401=) c.106398T>C (p.Tyr35466=) c.101475T>C (p.Tyr33825=) n.446+6457A>G n.220-5639A>G c.105495T>C (p.Tyr35165=) c.79389T>C (p.Tyr26463=) c.79248T>C (p.Tyr26416=) c.105291T>C (p.Tyr35097=) c.100689T>C (p.Tyr33563=) c.100686T>C (p.Tyr33562=) c.97728T>C (p.Tyr32576=) c.79344T>C (p.Tyr26448=) c.100839T>C (p.Tyr33613=) c.100836T>C (p.Tyr33612=) c.100269T>C (p.Tyr33423=) c.97611T>C (p.Tyr32537=) c.97530T>C (p.Tyr32510=) c.79293T>C (p.Tyr26431=) c.69147T>C (p.Tyr23049=) | ClinVar dbSNP gnomAD v4 |
2 | g.178530093A>T | CA349405527 | TTN,TTN-AS1 | c.98694T>A (p.Tyr32898Ter) c.79779T>A (p.Tyr26593Ter) c.79578T>A (p.Tyr26526Ter) c.79203T>A (p.Tyr26401Ter) c.106398T>A (p.Tyr35466Ter) c.101475T>A (p.Tyr33825Ter) n.446+6457A>T n.220-5639A>T c.105495T>A (p.Tyr35165Ter) c.79389T>A (p.Tyr26463Ter) c.79248T>A (p.Tyr26416Ter) c.105291T>A (p.Tyr35097Ter) c.100689T>A (p.Tyr33563Ter) c.100686T>A (p.Tyr33562Ter) c.97728T>A (p.Tyr32576Ter) c.79344T>A (p.Tyr26448Ter) c.100839T>A (p.Tyr33613Ter) c.100836T>A (p.Tyr33612Ter) c.100269T>A (p.Tyr33423Ter) c.97611T>A (p.Tyr32537Ter) c.97530T>A (p.Tyr32510Ter) c.79293T>A (p.Tyr26431Ter) c.69147T>A (p.Tyr23049Ter) | |
2 | g.178530094T>A | CA349405529 | TTN,TTN-AS1 | c.98693A>T (p.Tyr32898Phe) c.79778A>T (p.Tyr26593Phe) c.79577A>T (p.Tyr26526Phe) c.79202A>T (p.Tyr26401Phe) c.106397A>T (p.Tyr35466Phe) c.101474A>T (p.Tyr33825Phe) n.446+6458T>A n.220-5638T>A c.105494A>T (p.Tyr35165Phe) c.79388A>T (p.Tyr26463Phe) c.79247A>T (p.Tyr26416Phe) c.105290A>T (p.Tyr35097Phe) c.100688A>T (p.Tyr33563Phe) c.100685A>T (p.Tyr33562Phe) c.97727A>T (p.Tyr32576Phe) c.79343A>T (p.Tyr26448Phe) c.100838A>T (p.Tyr33613Phe) c.100835A>T (p.Tyr33612Phe) c.100268A>T (p.Tyr33423Phe) c.97610A>T (p.Tyr32537Phe) c.97529A>T (p.Tyr32510Phe) c.79292A>T (p.Tyr26431Phe) c.69146A>T (p.Tyr23049Phe) | |
2 | g.178530094T>C | CA349405532 | TTN,TTN-AS1 | c.98693A>G (p.Tyr32898Cys) c.79778A>G (p.Tyr26593Cys) c.79577A>G (p.Tyr26526Cys) c.79202A>G (p.Tyr26401Cys) c.106397A>G (p.Tyr35466Cys) c.101474A>G (p.Tyr33825Cys) n.446+6458T>C n.220-5638T>C c.105494A>G (p.Tyr35165Cys) c.79388A>G (p.Tyr26463Cys) c.79247A>G (p.Tyr26416Cys) c.105290A>G (p.Tyr35097Cys) c.100688A>G (p.Tyr33563Cys) c.100685A>G (p.Tyr33562Cys) c.97727A>G (p.Tyr32576Cys) c.79343A>G (p.Tyr26448Cys) c.100838A>G (p.Tyr33613Cys) c.100835A>G (p.Tyr33612Cys) c.100268A>G (p.Tyr33423Cys) c.97610A>G (p.Tyr32537Cys) c.97529A>G (p.Tyr32510Cys) c.79292A>G (p.Tyr26431Cys) c.69146A>G (p.Tyr23049Cys) | ClinVar |
2 | g.178530094T>G | CA349405535 | TTN,TTN-AS1 | c.98693A>C (p.Tyr32898Ser) c.79778A>C (p.Tyr26593Ser) c.79577A>C (p.Tyr26526Ser) c.79202A>C (p.Tyr26401Ser) c.106397A>C (p.Tyr35466Ser) c.101474A>C (p.Tyr33825Ser) n.446+6458T>G n.220-5638T>G c.105494A>C (p.Tyr35165Ser) c.79388A>C (p.Tyr26463Ser) c.79247A>C (p.Tyr26416Ser) c.105290A>C (p.Tyr35097Ser) c.100688A>C (p.Tyr33563Ser) c.100685A>C (p.Tyr33562Ser) c.97727A>C (p.Tyr32576Ser) c.79343A>C (p.Tyr26448Ser) c.100838A>C (p.Tyr33613Ser) c.100835A>C (p.Tyr33612Ser) c.100268A>C (p.Tyr33423Ser) c.97610A>C (p.Tyr32537Ser) c.97529A>C (p.Tyr32510Ser) c.79292A>C (p.Tyr26431Ser) c.69146A>C (p.Tyr23049Ser) | |
2 | g.178530095A>C | CA349405538 | TTN,TTN-AS1 | c.98692T>G (p.Tyr32898Asp) c.79777T>G (p.Tyr26593Asp) c.79576T>G (p.Tyr26526Asp) c.79201T>G (p.Tyr26401Asp) c.106396T>G (p.Tyr35466Asp) c.101473T>G (p.Tyr33825Asp) n.446+6459A>C n.220-5637A>C c.105493T>G (p.Tyr35165Asp) c.79387T>G (p.Tyr26463Asp) c.79246T>G (p.Tyr26416Asp) c.105289T>G (p.Tyr35097Asp) c.100687T>G (p.Tyr33563Asp) c.100684T>G (p.Tyr33562Asp) c.97726T>G (p.Tyr32576Asp) c.79342T>G (p.Tyr26448Asp) c.100837T>G (p.Tyr33613Asp) c.100834T>G (p.Tyr33612Asp) c.100267T>G (p.Tyr33423Asp) c.97609T>G (p.Tyr32537Asp) c.97528T>G (p.Tyr32510Asp) c.79291T>G (p.Tyr26431Asp) c.69145T>G (p.Tyr23049Asp) | |
2 | g.178530095A>G | CA349405543 | TTN,TTN-AS1 | c.98692T>C (p.Tyr32898His) c.79777T>C (p.Tyr26593His) c.79576T>C (p.Tyr26526His) c.79201T>C (p.Tyr26401His) c.106396T>C (p.Tyr35466His) c.101473T>C (p.Tyr33825His) n.446+6459A>G n.220-5637A>G c.105493T>C (p.Tyr35165His) c.79387T>C (p.Tyr26463His) c.79246T>C (p.Tyr26416His) c.105289T>C (p.Tyr35097His) c.100687T>C (p.Tyr33563His) c.100684T>C (p.Tyr33562His) c.97726T>C (p.Tyr32576His) c.79342T>C (p.Tyr26448His) c.100837T>C (p.Tyr33613His) c.100834T>C (p.Tyr33612His) c.100267T>C (p.Tyr33423His) c.97609T>C (p.Tyr32537His) c.97528T>C (p.Tyr32510His) c.79291T>C (p.Tyr26431His) c.69145T>C (p.Tyr23049His) | |
2 | g.178530095A>T | CA349405546 | TTN,TTN-AS1 | c.98692T>A (p.Tyr32898Asn) c.79777T>A (p.Tyr26593Asn) c.79576T>A (p.Tyr26526Asn) c.79201T>A (p.Tyr26401Asn) c.106396T>A (p.Tyr35466Asn) c.101473T>A (p.Tyr33825Asn) n.446+6459A>T n.220-5637A>T c.105493T>A (p.Tyr35165Asn) c.79387T>A (p.Tyr26463Asn) c.79246T>A (p.Tyr26416Asn) c.105289T>A (p.Tyr35097Asn) c.100687T>A (p.Tyr33563Asn) c.100684T>A (p.Tyr33562Asn) c.97726T>A (p.Tyr32576Asn) c.79342T>A (p.Tyr26448Asn) c.100837T>A (p.Tyr33613Asn) c.100834T>A (p.Tyr33612Asn) c.100267T>A (p.Tyr33423Asn) c.97609T>A (p.Tyr32537Asn) c.97528T>A (p.Tyr32510Asn) c.79291T>A (p.Tyr26431Asn) c.69145T>A (p.Tyr23049Asn) | |
2 | g.178530096T>A | CA349405549 | TTN,TTN-AS1 | c.98691A>T (p.Lys32897Asn) c.79776A>T (p.Lys26592Asn) c.79575A>T (p.Lys26525Asn) c.79200A>T (p.Lys26400Asn) c.106395A>T (p.Lys35465Asn) c.101472A>T (p.Lys33824Asn) n.446+6460T>A n.220-5636T>A c.105492A>T (p.Lys35164Asn) c.79386A>T (p.Lys26462Asn) c.79245A>T (p.Lys26415Asn) c.105288A>T (p.Lys35096Asn) c.100686A>T (p.Lys33562Asn) c.100683A>T (p.Lys33561Asn) c.97725A>T (p.Lys32575Asn) c.79341A>T (p.Lys26447Asn) c.100836A>T (p.Lys33612Asn) c.100833A>T (p.Lys33611Asn) c.100266A>T (p.Lys33422Asn) c.97608A>T (p.Lys32536Asn) c.97527A>T (p.Lys32509Asn) c.79290A>T (p.Lys26430Asn) c.69144A>T (p.Lys23048Asn) | |
2 | g.178530096T>C | CA430094035 | TTN,TTN-AS1 | c.98691A>G (p.Lys32897=) c.79776A>G (p.Lys26592=) c.79575A>G (p.Lys26525=) c.79200A>G (p.Lys26400=) c.106395A>G (p.Lys35465=) c.101472A>G (p.Lys33824=) n.446+6460T>C n.220-5636T>C c.105492A>G (p.Lys35164=) c.79386A>G (p.Lys26462=) c.79245A>G (p.Lys26415=) c.105288A>G (p.Lys35096=) c.100686A>G (p.Lys33562=) c.100683A>G (p.Lys33561=) c.97725A>G (p.Lys32575=) c.79341A>G (p.Lys26447=) c.100836A>G (p.Lys33612=) c.100833A>G (p.Lys33611=) c.100266A>G (p.Lys33422=) c.97608A>G (p.Lys32536=) c.97527A>G (p.Lys32509=) c.79290A>G (p.Lys26430=) c.69144A>G (p.Lys23048=) | |
2 | g.178530096T>G | CA349405550 | TTN,TTN-AS1 | c.98691A>C (p.Lys32897Asn) c.79776A>C (p.Lys26592Asn) c.79575A>C (p.Lys26525Asn) c.79200A>C (p.Lys26400Asn) c.106395A>C (p.Lys35465Asn) c.101472A>C (p.Lys33824Asn) n.446+6460T>G n.220-5636T>G c.105492A>C (p.Lys35164Asn) c.79386A>C (p.Lys26462Asn) c.79245A>C (p.Lys26415Asn) c.105288A>C (p.Lys35096Asn) c.100686A>C (p.Lys33562Asn) c.100683A>C (p.Lys33561Asn) c.97725A>C (p.Lys32575Asn) c.79341A>C (p.Lys26447Asn) c.100836A>C (p.Lys33612Asn) c.100833A>C (p.Lys33611Asn) c.100266A>C (p.Lys33422Asn) c.97608A>C (p.Lys32536Asn) c.97527A>C (p.Lys32509Asn) c.79290A>C (p.Lys26430Asn) c.69144A>C (p.Lys23048Asn) | |
2 | g.178530097T>A | CA349405559 | TTN,TTN-AS1 | c.98690A>T (p.Lys32897Ile) c.79775A>T (p.Lys26592Ile) c.79574A>T (p.Lys26525Ile) c.79199A>T (p.Lys26400Ile) c.106394A>T (p.Lys35465Ile) c.101471A>T (p.Lys33824Ile) n.446+6461T>A n.220-5635T>A c.105491A>T (p.Lys35164Ile) c.79385A>T (p.Lys26462Ile) c.79244A>T (p.Lys26415Ile) c.105287A>T (p.Lys35096Ile) c.100685A>T (p.Lys33562Ile) c.100682A>T (p.Lys33561Ile) c.97724A>T (p.Lys32575Ile) c.79340A>T (p.Lys26447Ile) c.100835A>T (p.Lys33612Ile) c.100832A>T (p.Lys33611Ile) c.100265A>T (p.Lys33422Ile) c.97607A>T (p.Lys32536Ile) c.97526A>T (p.Lys32509Ile) c.79289A>T (p.Lys26430Ile) c.69143A>T (p.Lys23048Ile) | |
2 | g.178530097T>C | CA349405555 | TTN,TTN-AS1 | c.98690A>G (p.Lys32897Arg) c.79775A>G (p.Lys26592Arg) c.79574A>G (p.Lys26525Arg) c.79199A>G (p.Lys26400Arg) c.106394A>G (p.Lys35465Arg) c.101471A>G (p.Lys33824Arg) n.446+6461T>C n.220-5635T>C c.105491A>G (p.Lys35164Arg) c.79385A>G (p.Lys26462Arg) c.79244A>G (p.Lys26415Arg) c.105287A>G (p.Lys35096Arg) c.100685A>G (p.Lys33562Arg) c.100682A>G (p.Lys33561Arg) c.97724A>G (p.Lys32575Arg) c.79340A>G (p.Lys26447Arg) c.100835A>G (p.Lys33612Arg) c.100832A>G (p.Lys33611Arg) c.100265A>G (p.Lys33422Arg) c.97607A>G (p.Lys32536Arg) c.97526A>G (p.Lys32509Arg) c.79289A>G (p.Lys26430Arg) c.69143A>G (p.Lys23048Arg) | |
2 | g.178530097T>G | CA349405556 | TTN,TTN-AS1 | c.98690A>C (p.Lys32897Thr) c.79775A>C (p.Lys26592Thr) c.79574A>C (p.Lys26525Thr) c.79199A>C (p.Lys26400Thr) c.106394A>C (p.Lys35465Thr) c.101471A>C (p.Lys33824Thr) n.446+6461T>G n.220-5635T>G c.105491A>C (p.Lys35164Thr) c.79385A>C (p.Lys26462Thr) c.79244A>C (p.Lys26415Thr) c.105287A>C (p.Lys35096Thr) c.100685A>C (p.Lys33562Thr) c.100682A>C (p.Lys33561Thr) c.97724A>C (p.Lys32575Thr) c.79340A>C (p.Lys26447Thr) c.100835A>C (p.Lys33612Thr) c.100832A>C (p.Lys33611Thr) c.100265A>C (p.Lys33422Thr) c.97607A>C (p.Lys32536Thr) c.97526A>C (p.Lys32509Thr) c.79289A>C (p.Lys26430Thr) c.69143A>C (p.Lys23048Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530097T= | CA1310511475 | TTN,TTN-AS1 | c.98690A= (p.Lys32897=) c.79775A= (p.Lys26592=) c.79574A= (p.Lys26525=) c.79199A= (p.Lys26400=) c.106394A= (p.Lys35465=) c.101471A= (p.Lys33824=) n.446+6461T= n.220-5635T= c.105491A= (p.Lys35164=) c.79385A= (p.Lys26462=) c.79244A= (p.Lys26415=) c.105287A= (p.Lys35096=) c.100685A= (p.Lys33562=) c.100682A= (p.Lys33561=) c.97724A= (p.Lys32575=) c.79340A= (p.Lys26447=) c.100835A= (p.Lys33612=) c.100832A= (p.Lys33611=) c.100265A= (p.Lys33422=) c.97607A= (p.Lys32536=) c.97526A= (p.Lys32509=) c.79289A= (p.Lys26430=) c.69143A= (p.Lys23048=) | |
2 | g.178530098T>A | CA349405560 | TTN,TTN-AS1 | c.98689A>T (p.Lys32897Ter) c.79774A>T (p.Lys26592Ter) c.79573A>T (p.Lys26525Ter) c.79198A>T (p.Lys26400Ter) c.106393A>T (p.Lys35465Ter) c.101470A>T (p.Lys33824Ter) n.446+6462T>A n.220-5634T>A c.105490A>T (p.Lys35164Ter) c.79384A>T (p.Lys26462Ter) c.79243A>T (p.Lys26415Ter) c.105286A>T (p.Lys35096Ter) c.100684A>T (p.Lys33562Ter) c.100681A>T (p.Lys33561Ter) c.97723A>T (p.Lys32575Ter) c.79339A>T (p.Lys26447Ter) c.100834A>T (p.Lys33612Ter) c.100831A>T (p.Lys33611Ter) c.100264A>T (p.Lys33422Ter) c.97606A>T (p.Lys32536Ter) c.97525A>T (p.Lys32509Ter) c.79288A>T (p.Lys26430Ter) c.69142A>T (p.Lys23048Ter) | |
2 | g.178530098T>C | CA349405562 | TTN,TTN-AS1 | c.98689A>G (p.Lys32897Glu) c.79774A>G (p.Lys26592Glu) c.79573A>G (p.Lys26525Glu) c.79198A>G (p.Lys26400Glu) c.106393A>G (p.Lys35465Glu) c.101470A>G (p.Lys33824Glu) n.446+6462T>C n.220-5634T>C c.105490A>G (p.Lys35164Glu) c.79384A>G (p.Lys26462Glu) c.79243A>G (p.Lys26415Glu) c.105286A>G (p.Lys35096Glu) c.100684A>G (p.Lys33562Glu) c.100681A>G (p.Lys33561Glu) c.97723A>G (p.Lys32575Glu) c.79339A>G (p.Lys26447Glu) c.100834A>G (p.Lys33612Glu) c.100831A>G (p.Lys33611Glu) c.100264A>G (p.Lys33422Glu) c.97606A>G (p.Lys32536Glu) c.97525A>G (p.Lys32509Glu) c.79288A>G (p.Lys26430Glu) c.69142A>G (p.Lys23048Glu) | |
2 | g.178530098T>G | CA349405565 | TTN,TTN-AS1 | c.98689A>C (p.Lys32897Gln) c.79774A>C (p.Lys26592Gln) c.79573A>C (p.Lys26525Gln) c.79198A>C (p.Lys26400Gln) c.106393A>C (p.Lys35465Gln) c.101470A>C (p.Lys33824Gln) n.446+6462T>G n.220-5634T>G c.105490A>C (p.Lys35164Gln) c.79384A>C (p.Lys26462Gln) c.79243A>C (p.Lys26415Gln) c.105286A>C (p.Lys35096Gln) c.100684A>C (p.Lys33562Gln) c.100681A>C (p.Lys33561Gln) c.97723A>C (p.Lys32575Gln) c.79339A>C (p.Lys26447Gln) c.100834A>C (p.Lys33612Gln) c.100831A>C (p.Lys33611Gln) c.100264A>C (p.Lys33422Gln) c.97606A>C (p.Lys32536Gln) c.97525A>C (p.Lys32509Gln) c.79288A>C (p.Lys26430Gln) c.69142A>C (p.Lys23048Gln) | |
2 | g.178530099A>C | CA430094057 | TTN,TTN-AS1 | c.98688T>G (p.Gly32896=) c.79773T>G (p.Gly26591=) c.79572T>G (p.Gly26524=) c.79197T>G (p.Gly26399=) c.106392T>G (p.Gly35464=) c.101469T>G (p.Gly33823=) n.446+6463A>C n.220-5633A>C c.105489T>G (p.Gly35163=) c.79383T>G (p.Gly26461=) c.79242T>G (p.Gly26414=) c.105285T>G (p.Gly35095=) c.100683T>G (p.Gly33561=) c.100680T>G (p.Gly33560=) c.97722T>G (p.Gly32574=) c.79338T>G (p.Gly26446=) c.100833T>G (p.Gly33611=) c.100830T>G (p.Gly33610=) c.100263T>G (p.Gly33421=) c.97605T>G (p.Gly32535=) c.97524T>G (p.Gly32508=) c.79287T>G (p.Gly26429=) c.69141T>G (p.Gly23047=) | ClinVar |
2 | g.178530099A>G | CA430094058 | TTN,TTN-AS1 | c.98688T>C (p.Gly32896=) c.79773T>C (p.Gly26591=) c.79572T>C (p.Gly26524=) c.79197T>C (p.Gly26399=) c.106392T>C (p.Gly35464=) c.101469T>C (p.Gly33823=) n.446+6463A>G n.220-5633A>G c.105489T>C (p.Gly35163=) c.79383T>C (p.Gly26461=) c.79242T>C (p.Gly26414=) c.105285T>C (p.Gly35095=) c.100683T>C (p.Gly33561=) c.100680T>C (p.Gly33560=) c.97722T>C (p.Gly32574=) c.79338T>C (p.Gly26446=) c.100833T>C (p.Gly33611=) c.100830T>C (p.Gly33610=) c.100263T>C (p.Gly33421=) c.97605T>C (p.Gly32535=) c.97524T>C (p.Gly32508=) c.79287T>C (p.Gly26429=) c.69141T>C (p.Gly23047=) | gnomAD v4 |
2 | g.178530099A>T | CA430094059 | TTN,TTN-AS1 | c.98688T>A (p.Gly32896=) c.79773T>A (p.Gly26591=) c.79572T>A (p.Gly26524=) c.79197T>A (p.Gly26399=) c.106392T>A (p.Gly35464=) c.101469T>A (p.Gly33823=) n.446+6463A>T n.220-5633A>T c.105489T>A (p.Gly35163=) c.79383T>A (p.Gly26461=) c.79242T>A (p.Gly26414=) c.105285T>A (p.Gly35095=) c.100683T>A (p.Gly33561=) c.100680T>A (p.Gly33560=) c.97722T>A (p.Gly32574=) c.79338T>A (p.Gly26446=) c.100833T>A (p.Gly33611=) c.100830T>A (p.Gly33610=) c.100263T>A (p.Gly33421=) c.97605T>A (p.Gly32535=) c.97524T>A (p.Gly32508=) c.79287T>A (p.Gly26429=) c.69141T>A (p.Gly23047=) | |
2 | g.178530100C>A | CA349405572 | TTN,TTN-AS1 | c.98687G>T (p.Gly32896Val) c.79772G>T (p.Gly26591Val) c.79571G>T (p.Gly26524Val) c.79196G>T (p.Gly26399Val) c.106391G>T (p.Gly35464Val) c.101468G>T (p.Gly33823Val) n.446+6464C>A n.220-5632C>A c.105488G>T (p.Gly35163Val) c.79382G>T (p.Gly26461Val) c.79241G>T (p.Gly26414Val) c.105284G>T (p.Gly35095Val) c.100682G>T (p.Gly33561Val) c.100679G>T (p.Gly33560Val) c.97721G>T (p.Gly32574Val) c.79337G>T (p.Gly26446Val) c.100832G>T (p.Gly33611Val) c.100829G>T (p.Gly33610Val) c.100262G>T (p.Gly33421Val) c.97604G>T (p.Gly32535Val) c.97523G>T (p.Gly32508Val) c.79286G>T (p.Gly26429Val) c.69140G>T (p.Gly23047Val) | |
2 | g.178530100C= | CA1310511479 | TTN,TTN-AS1 | c.98687G= (p.Gly32896=) c.79772G= (p.Gly26591=) c.79571G= (p.Gly26524=) c.79196G= (p.Gly26399=) c.106391G= (p.Gly35464=) c.101468G= (p.Gly33823=) n.446+6464C= n.220-5632C= c.105488G= (p.Gly35163=) c.79382G= (p.Gly26461=) c.79241G= (p.Gly26414=) c.105284G= (p.Gly35095=) c.100682G= (p.Gly33561=) c.100679G= (p.Gly33560=) c.97721G= (p.Gly32574=) c.79337G= (p.Gly26446=) c.100832G= (p.Gly33611=) c.100829G= (p.Gly33610=) c.100262G= (p.Gly33421=) c.97604G= (p.Gly32535=) c.97523G= (p.Gly32508=) c.79286G= (p.Gly26429=) c.69140G= (p.Gly23047=) | |
2 | g.178530100C>G | CA349405573 | TTN,TTN-AS1 | c.98687G>C (p.Gly32896Ala) c.79772G>C (p.Gly26591Ala) c.79571G>C (p.Gly26524Ala) c.79196G>C (p.Gly26399Ala) c.106391G>C (p.Gly35464Ala) c.101468G>C (p.Gly33823Ala) n.446+6464C>G n.220-5632C>G c.105488G>C (p.Gly35163Ala) c.79382G>C (p.Gly26461Ala) c.79241G>C (p.Gly26414Ala) c.105284G>C (p.Gly35095Ala) c.100682G>C (p.Gly33561Ala) c.100679G>C (p.Gly33560Ala) c.97721G>C (p.Gly32574Ala) c.79337G>C (p.Gly26446Ala) c.100832G>C (p.Gly33611Ala) c.100829G>C (p.Gly33610Ala) c.100262G>C (p.Gly33421Ala) c.97604G>C (p.Gly32535Ala) c.97523G>C (p.Gly32508Ala) c.79286G>C (p.Gly26429Ala) c.69140G>C (p.Gly23047Ala) | |
2 | g.178530100C>T | CA1985111 | TTN,TTN-AS1 | c.98687G>A (p.Gly32896Asp) c.79772G>A (p.Gly26591Asp) c.79571G>A (p.Gly26524Asp) c.79196G>A (p.Gly26399Asp) c.106391G>A (p.Gly35464Asp) c.101468G>A (p.Gly33823Asp) n.446+6464C>T n.220-5632C>T c.105488G>A (p.Gly35163Asp) c.79382G>A (p.Gly26461Asp) c.79241G>A (p.Gly26414Asp) c.105284G>A (p.Gly35095Asp) c.100682G>A (p.Gly33561Asp) c.100679G>A (p.Gly33560Asp) c.97721G>A (p.Gly32574Asp) c.79337G>A (p.Gly26446Asp) c.100832G>A (p.Gly33611Asp) c.100829G>A (p.Gly33610Asp) c.100262G>A (p.Gly33421Asp) c.97604G>A (p.Gly32535Asp) c.97523G>A (p.Gly32508Asp) c.79286G>A (p.Gly26429Asp) c.69140G>A (p.Gly23047Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530101C>A | CA349405575 | TTN,TTN-AS1 | c.98686G>T (p.Gly32896Cys) c.79771G>T (p.Gly26591Cys) c.79570G>T (p.Gly26524Cys) c.79195G>T (p.Gly26399Cys) c.106390G>T (p.Gly35464Cys) c.101467G>T (p.Gly33823Cys) n.446+6465C>A n.220-5631C>A c.105487G>T (p.Gly35163Cys) c.79381G>T (p.Gly26461Cys) c.79240G>T (p.Gly26414Cys) c.105283G>T (p.Gly35095Cys) c.100681G>T (p.Gly33561Cys) c.100678G>T (p.Gly33560Cys) c.97720G>T (p.Gly32574Cys) c.79336G>T (p.Gly26446Cys) c.100831G>T (p.Gly33611Cys) c.100828G>T (p.Gly33610Cys) c.100261G>T (p.Gly33421Cys) c.97603G>T (p.Gly32535Cys) c.97522G>T (p.Gly32508Cys) c.79285G>T (p.Gly26429Cys) c.69139G>T (p.Gly23047Cys) | |
2 | g.178530101C>G | CA349405578 | TTN,TTN-AS1 | c.98686G>C (p.Gly32896Arg) c.79771G>C (p.Gly26591Arg) c.79570G>C (p.Gly26524Arg) c.79195G>C (p.Gly26399Arg) c.106390G>C (p.Gly35464Arg) c.101467G>C (p.Gly33823Arg) n.446+6465C>G n.220-5631C>G c.105487G>C (p.Gly35163Arg) c.79381G>C (p.Gly26461Arg) c.79240G>C (p.Gly26414Arg) c.105283G>C (p.Gly35095Arg) c.100681G>C (p.Gly33561Arg) c.100678G>C (p.Gly33560Arg) c.97720G>C (p.Gly32574Arg) c.79336G>C (p.Gly26446Arg) c.100831G>C (p.Gly33611Arg) c.100828G>C (p.Gly33610Arg) c.100261G>C (p.Gly33421Arg) c.97603G>C (p.Gly32535Arg) c.97522G>C (p.Gly32508Arg) c.79285G>C (p.Gly26429Arg) c.69139G>C (p.Gly23047Arg) | gnomAD v4 |
2 | g.178530101C>T | CA349405580 | TTN,TTN-AS1 | c.98686G>A (p.Gly32896Ser) c.79771G>A (p.Gly26591Ser) c.79570G>A (p.Gly26524Ser) c.79195G>A (p.Gly26399Ser) c.106390G>A (p.Gly35464Ser) c.101467G>A (p.Gly33823Ser) n.446+6465C>T n.220-5631C>T c.105487G>A (p.Gly35163Ser) c.79381G>A (p.Gly26461Ser) c.79240G>A (p.Gly26414Ser) c.105283G>A (p.Gly35095Ser) c.100681G>A (p.Gly33561Ser) c.100678G>A (p.Gly33560Ser) c.97720G>A (p.Gly32574Ser) c.79336G>A (p.Gly26446Ser) c.100831G>A (p.Gly33611Ser) c.100828G>A (p.Gly33610Ser) c.100261G>A (p.Gly33421Ser) c.97603G>A (p.Gly32535Ser) c.97522G>A (p.Gly32508Ser) c.79285G>A (p.Gly26429Ser) c.69139G>A (p.Gly23047Ser) | |
2 | g.178530102T>A | CA430094083 | TTN,TTN-AS1 | c.98685A>T (p.Gly32895=) c.79770A>T (p.Gly26590=) c.79569A>T (p.Gly26523=) c.79194A>T (p.Gly26398=) c.106389A>T (p.Gly35463=) c.101466A>T (p.Gly33822=) n.446+6466T>A n.220-5630T>A c.105486A>T (p.Gly35162=) c.79380A>T (p.Gly26460=) c.79239A>T (p.Gly26413=) c.105282A>T (p.Gly35094=) c.100680A>T (p.Gly33560=) c.100677A>T (p.Gly33559=) c.97719A>T (p.Gly32573=) c.79335A>T (p.Gly26445=) c.100830A>T (p.Gly33610=) c.100827A>T (p.Gly33609=) c.100260A>T (p.Gly33420=) c.97602A>T (p.Gly32534=) c.97521A>T (p.Gly32507=) c.79284A>T (p.Gly26428=) c.69138A>T (p.Gly23046=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530102T>C | CA430094084 | TTN,TTN-AS1 | c.98685A>G (p.Gly32895=) c.79770A>G (p.Gly26590=) c.79569A>G (p.Gly26523=) c.79194A>G (p.Gly26398=) c.106389A>G (p.Gly35463=) c.101466A>G (p.Gly33822=) n.446+6466T>C n.220-5630T>C c.105486A>G (p.Gly35162=) c.79380A>G (p.Gly26460=) c.79239A>G (p.Gly26413=) c.105282A>G (p.Gly35094=) c.100680A>G (p.Gly33560=) c.100677A>G (p.Gly33559=) c.97719A>G (p.Gly32573=) c.79335A>G (p.Gly26445=) c.100830A>G (p.Gly33610=) c.100827A>G (p.Gly33609=) c.100260A>G (p.Gly33420=) c.97602A>G (p.Gly32534=) c.97521A>G (p.Gly32507=) c.79284A>G (p.Gly26428=) c.69138A>G (p.Gly23046=) | gnomAD v4 |
2 | g.178530102T>G | CA430094085 | TTN,TTN-AS1 | c.98685A>C (p.Gly32895=) c.79770A>C (p.Gly26590=) c.79569A>C (p.Gly26523=) c.79194A>C (p.Gly26398=) c.106389A>C (p.Gly35463=) c.101466A>C (p.Gly33822=) n.446+6466T>G n.220-5630T>G c.105486A>C (p.Gly35162=) c.79380A>C (p.Gly26460=) c.79239A>C (p.Gly26413=) c.105282A>C (p.Gly35094=) c.100680A>C (p.Gly33560=) c.100677A>C (p.Gly33559=) c.97719A>C (p.Gly32573=) c.79335A>C (p.Gly26445=) c.100830A>C (p.Gly33610=) c.100827A>C (p.Gly33609=) c.100260A>C (p.Gly33420=) c.97602A>C (p.Gly32534=) c.97521A>C (p.Gly32507=) c.79284A>C (p.Gly26428=) c.69138A>C (p.Gly23046=) | |
2 | g.178530102T= | CA1310511483 | TTN,TTN-AS1 | c.98685A= (p.Gly32895=) c.79770A= (p.Gly26590=) c.79569A= (p.Gly26523=) c.79194A= (p.Gly26398=) c.106389A= (p.Gly35463=) c.101466A= (p.Gly33822=) n.446+6466T= n.220-5630T= c.105486A= (p.Gly35162=) c.79380A= (p.Gly26460=) c.79239A= (p.Gly26413=) c.105282A= (p.Gly35094=) c.100680A= (p.Gly33560=) c.100677A= (p.Gly33559=) c.97719A= (p.Gly32573=) c.79335A= (p.Gly26445=) c.100830A= (p.Gly33610=) c.100827A= (p.Gly33609=) c.100260A= (p.Gly33420=) c.97602A= (p.Gly32534=) c.97521A= (p.Gly32507=) c.79284A= (p.Gly26428=) c.69138A= (p.Gly23046=) | |
2 | g.178530103C>A | CA349405582 | TTN,TTN-AS1 | c.98684G>T (p.Gly32895Val) c.79769G>T (p.Gly26590Val) c.79568G>T (p.Gly26523Val) c.79193G>T (p.Gly26398Val) c.106388G>T (p.Gly35463Val) c.101465G>T (p.Gly33822Val) n.446+6467C>A n.220-5629C>A c.105485G>T (p.Gly35162Val) c.79379G>T (p.Gly26460Val) c.79238G>T (p.Gly26413Val) c.105281G>T (p.Gly35094Val) c.100679G>T (p.Gly33560Val) c.100676G>T (p.Gly33559Val) c.97718G>T (p.Gly32573Val) c.79334G>T (p.Gly26445Val) c.100829G>T (p.Gly33610Val) c.100826G>T (p.Gly33609Val) c.100259G>T (p.Gly33420Val) c.97601G>T (p.Gly32534Val) c.97520G>T (p.Gly32507Val) c.79283G>T (p.Gly26428Val) c.69137G>T (p.Gly23046Val) | |
2 | g.178530103C= | CA1310511487 | TTN,TTN-AS1 | c.98684G= (p.Gly32895=) c.79769G= (p.Gly26590=) c.79568G= (p.Gly26523=) c.79193G= (p.Gly26398=) c.106388G= (p.Gly35463=) c.101465G= (p.Gly33822=) n.446+6467C= n.220-5629C= c.105485G= (p.Gly35162=) c.79379G= (p.Gly26460=) c.79238G= (p.Gly26413=) c.105281G= (p.Gly35094=) c.100679G= (p.Gly33560=) c.100676G= (p.Gly33559=) c.97718G= (p.Gly32573=) c.79334G= (p.Gly26445=) c.100829G= (p.Gly33610=) c.100826G= (p.Gly33609=) c.100259G= (p.Gly33420=) c.97601G= (p.Gly32534=) c.97520G= (p.Gly32507=) c.79283G= (p.Gly26428=) c.69137G= (p.Gly23046=) | |
2 | g.178530103C>G | CA1985112 | TTN,TTN-AS1 | c.98684G>C (p.Gly32895Ala) c.79769G>C (p.Gly26590Ala) c.79568G>C (p.Gly26523Ala) c.79193G>C (p.Gly26398Ala) c.106388G>C (p.Gly35463Ala) c.101465G>C (p.Gly33822Ala) n.446+6467C>G n.220-5629C>G c.105485G>C (p.Gly35162Ala) c.79379G>C (p.Gly26460Ala) c.79238G>C (p.Gly26413Ala) c.105281G>C (p.Gly35094Ala) c.100679G>C (p.Gly33560Ala) c.100676G>C (p.Gly33559Ala) c.97718G>C (p.Gly32573Ala) c.79334G>C (p.Gly26445Ala) c.100829G>C (p.Gly33610Ala) c.100826G>C (p.Gly33609Ala) c.100259G>C (p.Gly33420Ala) c.97601G>C (p.Gly32534Ala) c.97520G>C (p.Gly32507Ala) c.79283G>C (p.Gly26428Ala) c.69137G>C (p.Gly23046Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530103C>T | CA349405585 | TTN,TTN-AS1 | c.98684G>A (p.Gly32895Glu) c.79769G>A (p.Gly26590Glu) c.79568G>A (p.Gly26523Glu) c.79193G>A (p.Gly26398Glu) c.106388G>A (p.Gly35463Glu) c.101465G>A (p.Gly33822Glu) n.446+6467C>T n.220-5629C>T c.105485G>A (p.Gly35162Glu) c.79379G>A (p.Gly26460Glu) c.79238G>A (p.Gly26413Glu) c.105281G>A (p.Gly35094Glu) c.100679G>A (p.Gly33560Glu) c.100676G>A (p.Gly33559Glu) c.97718G>A (p.Gly32573Glu) c.79334G>A (p.Gly26445Glu) c.100829G>A (p.Gly33610Glu) c.100826G>A (p.Gly33609Glu) c.100259G>A (p.Gly33420Glu) c.97601G>A (p.Gly32534Glu) c.97520G>A (p.Gly32507Glu) c.79283G>A (p.Gly26428Glu) c.69137G>A (p.Gly23046Glu) | |
2 | g.178530104C>A | CA349405592 | TTN,TTN-AS1 | c.98683G>T (p.Gly32895Ter) c.79768G>T (p.Gly26590Ter) c.79567G>T (p.Gly26523Ter) c.79192G>T (p.Gly26398Ter) c.106387G>T (p.Gly35463Ter) c.101464G>T (p.Gly33822Ter) n.446+6468C>A n.220-5628C>A c.105484G>T (p.Gly35162Ter) c.79378G>T (p.Gly26460Ter) c.79237G>T (p.Gly26413Ter) c.105280G>T (p.Gly35094Ter) c.100678G>T (p.Gly33560Ter) c.100675G>T (p.Gly33559Ter) c.97717G>T (p.Gly32573Ter) c.79333G>T (p.Gly26445Ter) c.100828G>T (p.Gly33610Ter) c.100825G>T (p.Gly33609Ter) c.100258G>T (p.Gly33420Ter) c.97600G>T (p.Gly32534Ter) c.97519G>T (p.Gly32507Ter) c.79282G>T (p.Gly26428Ter) c.69136G>T (p.Gly23046Ter) | |
2 | g.178530104C= | CA1310511491 | TTN,TTN-AS1 | c.98683G= (p.Gly32895=) c.79768G= (p.Gly26590=) c.79567G= (p.Gly26523=) c.79192G= (p.Gly26398=) c.106387G= (p.Gly35463=) c.101464G= (p.Gly33822=) n.446+6468C= n.220-5628C= c.105484G= (p.Gly35162=) c.79378G= (p.Gly26460=) c.79237G= (p.Gly26413=) c.105280G= (p.Gly35094=) c.100678G= (p.Gly33560=) c.100675G= (p.Gly33559=) c.97717G= (p.Gly32573=) c.79333G= (p.Gly26445=) c.100828G= (p.Gly33610=) c.100825G= (p.Gly33609=) c.100258G= (p.Gly33420=) c.97600G= (p.Gly32534=) c.97519G= (p.Gly32507=) c.79282G= (p.Gly26428=) c.69136G= (p.Gly23046=) | |
2 | g.178530104C>G | CA349405590 | TTN,TTN-AS1 | c.98683G>C (p.Gly32895Arg) c.79768G>C (p.Gly26590Arg) c.79567G>C (p.Gly26523Arg) c.79192G>C (p.Gly26398Arg) c.106387G>C (p.Gly35463Arg) c.101464G>C (p.Gly33822Arg) n.446+6468C>G n.220-5628C>G c.105484G>C (p.Gly35162Arg) c.79378G>C (p.Gly26460Arg) c.79237G>C (p.Gly26413Arg) c.105280G>C (p.Gly35094Arg) c.100678G>C (p.Gly33560Arg) c.100675G>C (p.Gly33559Arg) c.97717G>C (p.Gly32573Arg) c.79333G>C (p.Gly26445Arg) c.100828G>C (p.Gly33610Arg) c.100825G>C (p.Gly33609Arg) c.100258G>C (p.Gly33420Arg) c.97600G>C (p.Gly32534Arg) c.97519G>C (p.Gly32507Arg) c.79282G>C (p.Gly26428Arg) c.69136G>C (p.Gly23046Arg) | |
2 | g.178530104C>T | CA349405587 | TTN,TTN-AS1 | c.98683G>A (p.Gly32895Arg) c.79768G>A (p.Gly26590Arg) c.79567G>A (p.Gly26523Arg) c.79192G>A (p.Gly26398Arg) c.106387G>A (p.Gly35463Arg) c.101464G>A (p.Gly33822Arg) n.446+6468C>T n.220-5628C>T c.105484G>A (p.Gly35162Arg) c.79378G>A (p.Gly26460Arg) c.79237G>A (p.Gly26413Arg) c.105280G>A (p.Gly35094Arg) c.100678G>A (p.Gly33560Arg) c.100675G>A (p.Gly33559Arg) c.97717G>A (p.Gly32573Arg) c.79333G>A (p.Gly26445Arg) c.100828G>A (p.Gly33610Arg) c.100825G>A (p.Gly33609Arg) c.100258G>A (p.Gly33420Arg) c.97600G>A (p.Gly32534Arg) c.97519G>A (p.Gly32507Arg) c.79282G>A (p.Gly26428Arg) c.69136G>A (p.Gly23046Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530105T>A | CA349405594 | TTN,TTN-AS1 | c.98682A>T (p.Gln32894His) c.79767A>T (p.Gln26589His) c.79566A>T (p.Gln26522His) c.79191A>T (p.Gln26397His) c.106386A>T (p.Gln35462His) c.101463A>T (p.Gln33821His) n.446+6469T>A n.220-5627T>A c.105483A>T (p.Gln35161His) c.79377A>T (p.Gln26459His) c.79236A>T (p.Gln26412His) c.105279A>T (p.Gln35093His) c.100677A>T (p.Gln33559His) c.100674A>T (p.Gln33558His) c.97716A>T (p.Gln32572His) c.79332A>T (p.Gln26444His) c.100827A>T (p.Gln33609His) c.100824A>T (p.Gln33608His) c.100257A>T (p.Gln33419His) c.97599A>T (p.Gln32533His) c.97518A>T (p.Gln32506His) c.79281A>T (p.Gln26427His) c.69135A>T (p.Gln23045His) | |
2 | g.178530105T>C | CA430094098 | TTN,TTN-AS1 | c.98682A>G (p.Gln32894=) c.79767A>G (p.Gln26589=) c.79566A>G (p.Gln26522=) c.79191A>G (p.Gln26397=) c.106386A>G (p.Gln35462=) c.101463A>G (p.Gln33821=) n.446+6469T>C n.220-5627T>C c.105483A>G (p.Gln35161=) c.79377A>G (p.Gln26459=) c.79236A>G (p.Gln26412=) c.105279A>G (p.Gln35093=) c.100677A>G (p.Gln33559=) c.100674A>G (p.Gln33558=) c.97716A>G (p.Gln32572=) c.79332A>G (p.Gln26444=) c.100827A>G (p.Gln33609=) c.100824A>G (p.Gln33608=) c.100257A>G (p.Gln33419=) c.97599A>G (p.Gln32533=) c.97518A>G (p.Gln32506=) c.79281A>G (p.Gln26427=) c.69135A>G (p.Gln23045=) | |
2 | g.178530105T>G | CA349405596 | TTN,TTN-AS1 | c.98682A>C (p.Gln32894His) c.79767A>C (p.Gln26589His) c.79566A>C (p.Gln26522His) c.79191A>C (p.Gln26397His) c.106386A>C (p.Gln35462His) c.101463A>C (p.Gln33821His) n.446+6469T>G n.220-5627T>G c.105483A>C (p.Gln35161His) c.79377A>C (p.Gln26459His) c.79236A>C (p.Gln26412His) c.105279A>C (p.Gln35093His) c.100677A>C (p.Gln33559His) c.100674A>C (p.Gln33558His) c.97716A>C (p.Gln32572His) c.79332A>C (p.Gln26444His) c.100827A>C (p.Gln33609His) c.100824A>C (p.Gln33608His) c.100257A>C (p.Gln33419His) c.97599A>C (p.Gln32533His) c.97518A>C (p.Gln32506His) c.79281A>C (p.Gln26427His) c.69135A>C (p.Gln23045His) | |
2 | g.178530106T>A | CA349405599 | TTN,TTN-AS1 | c.98681A>T (p.Gln32894Leu) c.79766A>T (p.Gln26589Leu) c.79565A>T (p.Gln26522Leu) c.79190A>T (p.Gln26397Leu) c.106385A>T (p.Gln35462Leu) c.101462A>T (p.Gln33821Leu) n.446+6470T>A n.220-5626T>A c.105482A>T (p.Gln35161Leu) c.79376A>T (p.Gln26459Leu) c.79235A>T (p.Gln26412Leu) c.105278A>T (p.Gln35093Leu) c.100676A>T (p.Gln33559Leu) c.100673A>T (p.Gln33558Leu) c.97715A>T (p.Gln32572Leu) c.79331A>T (p.Gln26444Leu) c.100826A>T (p.Gln33609Leu) c.100823A>T (p.Gln33608Leu) c.100256A>T (p.Gln33419Leu) c.97598A>T (p.Gln32533Leu) c.97517A>T (p.Gln32506Leu) c.79280A>T (p.Gln26427Leu) c.69134A>T (p.Gln23045Leu) | |
2 | g.178530106T>C | CA60953073 | TTN,TTN-AS1 | c.98681A>G (p.Gln32894Arg) c.79766A>G (p.Gln26589Arg) c.79565A>G (p.Gln26522Arg) c.79190A>G (p.Gln26397Arg) c.106385A>G (p.Gln35462Arg) c.101462A>G (p.Gln33821Arg) n.446+6470T>C n.220-5626T>C c.105482A>G (p.Gln35161Arg) c.79376A>G (p.Gln26459Arg) c.79235A>G (p.Gln26412Arg) c.105278A>G (p.Gln35093Arg) c.100676A>G (p.Gln33559Arg) c.100673A>G (p.Gln33558Arg) c.97715A>G (p.Gln32572Arg) c.79331A>G (p.Gln26444Arg) c.100826A>G (p.Gln33609Arg) c.100823A>G (p.Gln33608Arg) c.100256A>G (p.Gln33419Arg) c.97598A>G (p.Gln32533Arg) c.97517A>G (p.Gln32506Arg) c.79280A>G (p.Gln26427Arg) c.69134A>G (p.Gln23045Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530106T>G | CA349405603 | TTN,TTN-AS1 | c.98681A>C (p.Gln32894Pro) c.79766A>C (p.Gln26589Pro) c.79565A>C (p.Gln26522Pro) c.79190A>C (p.Gln26397Pro) c.106385A>C (p.Gln35462Pro) c.101462A>C (p.Gln33821Pro) n.446+6470T>G n.220-5626T>G c.105482A>C (p.Gln35161Pro) c.79376A>C (p.Gln26459Pro) c.79235A>C (p.Gln26412Pro) c.105278A>C (p.Gln35093Pro) c.100676A>C (p.Gln33559Pro) c.100673A>C (p.Gln33558Pro) c.97715A>C (p.Gln32572Pro) c.79331A>C (p.Gln26444Pro) c.100826A>C (p.Gln33609Pro) c.100823A>C (p.Gln33608Pro) c.100256A>C (p.Gln33419Pro) c.97598A>C (p.Gln32533Pro) c.97517A>C (p.Gln32506Pro) c.79280A>C (p.Gln26427Pro) c.69134A>C (p.Gln23045Pro) | |
2 | g.178530106T= | CA1310511497 | TTN,TTN-AS1 | c.98681A= (p.Gln32894=) c.79766A= (p.Gln26589=) c.79565A= (p.Gln26522=) c.79190A= (p.Gln26397=) c.106385A= (p.Gln35462=) c.101462A= (p.Gln33821=) n.446+6470T= n.220-5626T= c.105482A= (p.Gln35161=) c.79376A= (p.Gln26459=) c.79235A= (p.Gln26412=) c.105278A= (p.Gln35093=) c.100676A= (p.Gln33559=) c.100673A= (p.Gln33558=) c.97715A= (p.Gln32572=) c.79331A= (p.Gln26444=) c.100826A= (p.Gln33609=) c.100823A= (p.Gln33608=) c.100256A= (p.Gln33419=) c.97598A= (p.Gln32533=) c.97517A= (p.Gln32506=) c.79280A= (p.Gln26427=) c.69134A= (p.Gln23045=) | |
2 | g.178530107G>A | CA349405606 | TTN,TTN-AS1 | c.98680C>T (p.Gln32894Ter) c.79765C>T (p.Gln26589Ter) c.79564C>T (p.Gln26522Ter) c.79189C>T (p.Gln26397Ter) c.106384C>T (p.Gln35462Ter) c.101461C>T (p.Gln33821Ter) n.446+6471G>A n.220-5625G>A c.105481C>T (p.Gln35161Ter) c.79375C>T (p.Gln26459Ter) c.79234C>T (p.Gln26412Ter) c.105277C>T (p.Gln35093Ter) c.100675C>T (p.Gln33559Ter) c.100672C>T (p.Gln33558Ter) c.97714C>T (p.Gln32572Ter) c.79330C>T (p.Gln26444Ter) c.100825C>T (p.Gln33609Ter) c.100822C>T (p.Gln33608Ter) c.100255C>T (p.Gln33419Ter) c.97597C>T (p.Gln32533Ter) c.97516C>T (p.Gln32506Ter) c.79279C>T (p.Gln26427Ter) c.69133C>T (p.Gln23045Ter) | |
2 | g.178530107G>C | CA349405609 | TTN,TTN-AS1 | c.98680C>G (p.Gln32894Glu) c.79765C>G (p.Gln26589Glu) c.79564C>G (p.Gln26522Glu) c.79189C>G (p.Gln26397Glu) c.106384C>G (p.Gln35462Glu) c.101461C>G (p.Gln33821Glu) n.446+6471G>C n.220-5625G>C c.105481C>G (p.Gln35161Glu) c.79375C>G (p.Gln26459Glu) c.79234C>G (p.Gln26412Glu) c.105277C>G (p.Gln35093Glu) c.100675C>G (p.Gln33559Glu) c.100672C>G (p.Gln33558Glu) c.97714C>G (p.Gln32572Glu) c.79330C>G (p.Gln26444Glu) c.100825C>G (p.Gln33609Glu) c.100822C>G (p.Gln33608Glu) c.100255C>G (p.Gln33419Glu) c.97597C>G (p.Gln32533Glu) c.97516C>G (p.Gln32506Glu) c.79279C>G (p.Gln26427Glu) c.69133C>G (p.Gln23045Glu) | |
2 | g.178530107G>T | CA349405612 | TTN,TTN-AS1 | c.98680C>A (p.Gln32894Lys) c.79765C>A (p.Gln26589Lys) c.79564C>A (p.Gln26522Lys) c.79189C>A (p.Gln26397Lys) c.106384C>A (p.Gln35462Lys) c.101461C>A (p.Gln33821Lys) n.446+6471G>T n.220-5625G>T c.105481C>A (p.Gln35161Lys) c.79375C>A (p.Gln26459Lys) c.79234C>A (p.Gln26412Lys) c.105277C>A (p.Gln35093Lys) c.100675C>A (p.Gln33559Lys) c.100672C>A (p.Gln33558Lys) c.97714C>A (p.Gln32572Lys) c.79330C>A (p.Gln26444Lys) c.100825C>A (p.Gln33609Lys) c.100822C>A (p.Gln33608Lys) c.100255C>A (p.Gln33419Lys) c.97597C>A (p.Gln32533Lys) c.97516C>A (p.Gln32506Lys) c.79279C>A (p.Gln26427Lys) c.69133C>A (p.Gln23045Lys) | |
2 | g.178530108T>A | CA430094112 | TTN,TTN-AS1 | c.98679A>T (p.Thr32893=) c.79764A>T (p.Thr26588=) c.79563A>T (p.Thr26521=) c.79188A>T (p.Thr26396=) c.106383A>T (p.Thr35461=) c.101460A>T (p.Thr33820=) n.446+6472T>A n.220-5624T>A c.105480A>T (p.Thr35160=) c.79374A>T (p.Thr26458=) c.79233A>T (p.Thr26411=) c.105276A>T (p.Thr35092=) c.100674A>T (p.Thr33558=) c.100671A>T (p.Thr33557=) c.97713A>T (p.Thr32571=) c.79329A>T (p.Thr26443=) c.100824A>T (p.Thr33608=) c.100821A>T (p.Thr33607=) c.100254A>T (p.Thr33418=) c.97596A>T (p.Thr32532=) c.97515A>T (p.Thr32505=) c.79278A>T (p.Thr26426=) c.69132A>T (p.Thr23044=) | |
2 | g.178530108T>C | CA430094114 | TTN,TTN-AS1 | c.98679A>G (p.Thr32893=) c.79764A>G (p.Thr26588=) c.79563A>G (p.Thr26521=) c.79188A>G (p.Thr26396=) c.106383A>G (p.Thr35461=) c.101460A>G (p.Thr33820=) n.446+6472T>C n.220-5624T>C c.105480A>G (p.Thr35160=) c.79374A>G (p.Thr26458=) c.79233A>G (p.Thr26411=) c.105276A>G (p.Thr35092=) c.100674A>G (p.Thr33558=) c.100671A>G (p.Thr33557=) c.97713A>G (p.Thr32571=) c.79329A>G (p.Thr26443=) c.100824A>G (p.Thr33608=) c.100821A>G (p.Thr33607=) c.100254A>G (p.Thr33418=) c.97596A>G (p.Thr32532=) c.97515A>G (p.Thr32505=) c.79278A>G (p.Thr26426=) c.69132A>G (p.Thr23044=) | |
2 | g.178530108T>G | CA430094116 | TTN,TTN-AS1 | c.98679A>C (p.Thr32893=) c.79764A>C (p.Thr26588=) c.79563A>C (p.Thr26521=) c.79188A>C (p.Thr26396=) c.106383A>C (p.Thr35461=) c.101460A>C (p.Thr33820=) n.446+6472T>G n.220-5624T>G c.105480A>C (p.Thr35160=) c.79374A>C (p.Thr26458=) c.79233A>C (p.Thr26411=) c.105276A>C (p.Thr35092=) c.100674A>C (p.Thr33558=) c.100671A>C (p.Thr33557=) c.97713A>C (p.Thr32571=) c.79329A>C (p.Thr26443=) c.100824A>C (p.Thr33608=) c.100821A>C (p.Thr33607=) c.100254A>C (p.Thr33418=) c.97596A>C (p.Thr32532=) c.97515A>C (p.Thr32505=) c.79278A>C (p.Thr26426=) c.69132A>C (p.Thr23044=) | gnomAD v4 |
2 | g.178530109G>A | CA1985113 | TTN,TTN-AS1 | c.98678C>T (p.Thr32893Ile) c.79763C>T (p.Thr26588Ile) c.79562C>T (p.Thr26521Ile) c.79187C>T (p.Thr26396Ile) c.106382C>T (p.Thr35461Ile) c.101459C>T (p.Thr33820Ile) n.446+6473G>A n.220-5623G>A c.105479C>T (p.Thr35160Ile) c.79373C>T (p.Thr26458Ile) c.79232C>T (p.Thr26411Ile) c.105275C>T (p.Thr35092Ile) c.100673C>T (p.Thr33558Ile) c.100670C>T (p.Thr33557Ile) c.97712C>T (p.Thr32571Ile) c.79328C>T (p.Thr26443Ile) c.100823C>T (p.Thr33608Ile) c.100820C>T (p.Thr33607Ile) c.100253C>T (p.Thr33418Ile) c.97595C>T (p.Thr32532Ile) c.97514C>T (p.Thr32505Ile) c.79277C>T (p.Thr26426Ile) c.69131C>T (p.Thr23044Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530109G>C | CA349405613 | TTN,TTN-AS1 | c.98678C>G (p.Thr32893Arg) c.79763C>G (p.Thr26588Arg) c.79562C>G (p.Thr26521Arg) c.79187C>G (p.Thr26396Arg) c.106382C>G (p.Thr35461Arg) c.101459C>G (p.Thr33820Arg) n.446+6473G>C n.220-5623G>C c.105479C>G (p.Thr35160Arg) c.79373C>G (p.Thr26458Arg) c.79232C>G (p.Thr26411Arg) c.105275C>G (p.Thr35092Arg) c.100673C>G (p.Thr33558Arg) c.100670C>G (p.Thr33557Arg) c.97712C>G (p.Thr32571Arg) c.79328C>G (p.Thr26443Arg) c.100823C>G (p.Thr33608Arg) c.100820C>G (p.Thr33607Arg) c.100253C>G (p.Thr33418Arg) c.97595C>G (p.Thr32532Arg) c.97514C>G (p.Thr32505Arg) c.79277C>G (p.Thr26426Arg) c.69131C>G (p.Thr23044Arg) | |
2 | g.178530109G= | CA1310511500 | TTN,TTN-AS1 | c.98678C= (p.Thr32893=) c.79763C= (p.Thr26588=) c.79562C= (p.Thr26521=) c.79187C= (p.Thr26396=) c.106382C= (p.Thr35461=) c.101459C= (p.Thr33820=) n.446+6473G= n.220-5623G= c.105479C= (p.Thr35160=) c.79373C= (p.Thr26458=) c.79232C= (p.Thr26411=) c.105275C= (p.Thr35092=) c.100673C= (p.Thr33558=) c.100670C= (p.Thr33557=) c.97712C= (p.Thr32571=) c.79328C= (p.Thr26443=) c.100823C= (p.Thr33608=) c.100820C= (p.Thr33607=) c.100253C= (p.Thr33418=) c.97595C= (p.Thr32532=) c.97514C= (p.Thr32505=) c.79277C= (p.Thr26426=) c.69131C= (p.Thr23044=) | |
2 | g.178530109G>T | CA349405614 | TTN,TTN-AS1 | c.98678C>A (p.Thr32893Lys) c.79763C>A (p.Thr26588Lys) c.79562C>A (p.Thr26521Lys) c.79187C>A (p.Thr26396Lys) c.106382C>A (p.Thr35461Lys) c.101459C>A (p.Thr33820Lys) n.446+6473G>T n.220-5623G>T c.105479C>A (p.Thr35160Lys) c.79373C>A (p.Thr26458Lys) c.79232C>A (p.Thr26411Lys) c.105275C>A (p.Thr35092Lys) c.100673C>A (p.Thr33558Lys) c.100670C>A (p.Thr33557Lys) c.97712C>A (p.Thr32571Lys) c.79328C>A (p.Thr26443Lys) c.100823C>A (p.Thr33608Lys) c.100820C>A (p.Thr33607Lys) c.100253C>A (p.Thr33418Lys) c.97595C>A (p.Thr32532Lys) c.97514C>A (p.Thr32505Lys) c.79277C>A (p.Thr26426Lys) c.69131C>A (p.Thr23044Lys) | |
2 | g.178530110T>A | CA349405615 | TTN,TTN-AS1 | c.98677A>T (p.Thr32893Ser) c.79762A>T (p.Thr26588Ser) c.79561A>T (p.Thr26521Ser) c.79186A>T (p.Thr26396Ser) c.106381A>T (p.Thr35461Ser) c.101458A>T (p.Thr33820Ser) n.446+6474T>A n.220-5622T>A c.105478A>T (p.Thr35160Ser) c.79372A>T (p.Thr26458Ser) c.79231A>T (p.Thr26411Ser) c.105274A>T (p.Thr35092Ser) c.100672A>T (p.Thr33558Ser) c.100669A>T (p.Thr33557Ser) c.97711A>T (p.Thr32571Ser) c.79327A>T (p.Thr26443Ser) c.100822A>T (p.Thr33608Ser) c.100819A>T (p.Thr33607Ser) c.100252A>T (p.Thr33418Ser) c.97594A>T (p.Thr32532Ser) c.97513A>T (p.Thr32505Ser) c.79276A>T (p.Thr26426Ser) c.69130A>T (p.Thr23044Ser) | |
2 | g.178530110T>C | CA349405616 | TTN,TTN-AS1 | c.98677A>G (p.Thr32893Ala) c.79762A>G (p.Thr26588Ala) c.79561A>G (p.Thr26521Ala) c.79186A>G (p.Thr26396Ala) c.106381A>G (p.Thr35461Ala) c.101458A>G (p.Thr33820Ala) n.446+6474T>C n.220-5622T>C c.105478A>G (p.Thr35160Ala) c.79372A>G (p.Thr26458Ala) c.79231A>G (p.Thr26411Ala) c.105274A>G (p.Thr35092Ala) c.100672A>G (p.Thr33558Ala) c.100669A>G (p.Thr33557Ala) c.97711A>G (p.Thr32571Ala) c.79327A>G (p.Thr26443Ala) c.100822A>G (p.Thr33608Ala) c.100819A>G (p.Thr33607Ala) c.100252A>G (p.Thr33418Ala) c.97594A>G (p.Thr32532Ala) c.97513A>G (p.Thr32505Ala) c.79276A>G (p.Thr26426Ala) c.69130A>G (p.Thr23044Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530110T>G | CA349405617 | TTN,TTN-AS1 | c.98677A>C (p.Thr32893Pro) c.79762A>C (p.Thr26588Pro) c.79561A>C (p.Thr26521Pro) c.79186A>C (p.Thr26396Pro) c.106381A>C (p.Thr35461Pro) c.101458A>C (p.Thr33820Pro) n.446+6474T>G n.220-5622T>G c.105478A>C (p.Thr35160Pro) c.79372A>C (p.Thr26458Pro) c.79231A>C (p.Thr26411Pro) c.105274A>C (p.Thr35092Pro) c.100672A>C (p.Thr33558Pro) c.100669A>C (p.Thr33557Pro) c.97711A>C (p.Thr32571Pro) c.79327A>C (p.Thr26443Pro) c.100822A>C (p.Thr33608Pro) c.100819A>C (p.Thr33607Pro) c.100252A>C (p.Thr33418Pro) c.97594A>C (p.Thr32532Pro) c.97513A>C (p.Thr32505Pro) c.79276A>C (p.Thr26426Pro) c.69130A>C (p.Thr23044Pro) | |
2 | g.178530110T= | CA1310511505 | TTN,TTN-AS1 | c.98677A= (p.Thr32893=) c.79762A= (p.Thr26588=) c.79561A= (p.Thr26521=) c.79186A= (p.Thr26396=) c.106381A= (p.Thr35461=) c.101458A= (p.Thr33820=) n.446+6474T= n.220-5622T= c.105478A= (p.Thr35160=) c.79372A= (p.Thr26458=) c.79231A= (p.Thr26411=) c.105274A= (p.Thr35092=) c.100672A= (p.Thr33558=) c.100669A= (p.Thr33557=) c.97711A= (p.Thr32571=) c.79327A= (p.Thr26443=) c.100822A= (p.Thr33608=) c.100819A= (p.Thr33607=) c.100252A= (p.Thr33418=) c.97594A= (p.Thr32532=) c.97513A= (p.Thr32505=) c.79276A= (p.Thr26426=) c.69130A= (p.Thr23044=) | |
2 | g.178530111A>C | CA349405619 | TTN,TTN-AS1 | c.98676T>G (p.Ile32892Met) c.79761T>G (p.Ile26587Met) c.79560T>G (p.Ile26520Met) c.79185T>G (p.Ile26395Met) c.106380T>G (p.Ile35460Met) c.101457T>G (p.Ile33819Met) n.446+6475A>C n.220-5621A>C c.105477T>G (p.Ile35159Met) c.79371T>G (p.Ile26457Met) c.79230T>G (p.Ile26410Met) c.105273T>G (p.Ile35091Met) c.100671T>G (p.Ile33557Met) c.100668T>G (p.Ile33556Met) c.97710T>G (p.Ile32570Met) c.79326T>G (p.Ile26442Met) c.100821T>G (p.Ile33607Met) c.100818T>G (p.Ile33606Met) c.100251T>G (p.Ile33417Met) c.97593T>G (p.Ile32531Met) c.97512T>G (p.Ile32504Met) c.79275T>G (p.Ile26425Met) c.69129T>G (p.Ile23043Met) | |
2 | g.178530111A>G | CA430094131 | TTN,TTN-AS1 | c.98676T>C (p.Ile32892=) c.79761T>C (p.Ile26587=) c.79560T>C (p.Ile26520=) c.79185T>C (p.Ile26395=) c.106380T>C (p.Ile35460=) c.101457T>C (p.Ile33819=) n.446+6475A>G n.220-5621A>G c.105477T>C (p.Ile35159=) c.79371T>C (p.Ile26457=) c.79230T>C (p.Ile26410=) c.105273T>C (p.Ile35091=) c.100671T>C (p.Ile33557=) c.100668T>C (p.Ile33556=) c.97710T>C (p.Ile32570=) c.79326T>C (p.Ile26442=) c.100821T>C (p.Ile33607=) c.100818T>C (p.Ile33606=) c.100251T>C (p.Ile33417=) c.97593T>C (p.Ile32531=) c.97512T>C (p.Ile32504=) c.79275T>C (p.Ile26425=) c.69129T>C (p.Ile23043=) | |
2 | g.178530111A>T | CA430094129 | TTN,TTN-AS1 | c.98676T>A (p.Ile32892=) c.79761T>A (p.Ile26587=) c.79560T>A (p.Ile26520=) c.79185T>A (p.Ile26395=) c.106380T>A (p.Ile35460=) c.101457T>A (p.Ile33819=) n.446+6475A>T n.220-5621A>T c.105477T>A (p.Ile35159=) c.79371T>A (p.Ile26457=) c.79230T>A (p.Ile26410=) c.105273T>A (p.Ile35091=) c.100671T>A (p.Ile33557=) c.100668T>A (p.Ile33556=) c.97710T>A (p.Ile32570=) c.79326T>A (p.Ile26442=) c.100821T>A (p.Ile33607=) c.100818T>A (p.Ile33606=) c.100251T>A (p.Ile33417=) c.97593T>A (p.Ile32531=) c.97512T>A (p.Ile32504=) c.79275T>A (p.Ile26425=) c.69129T>A (p.Ile23043=) | |
2 | g.178530112A= | CA1310511512 | TTN,TTN-AS1 | c.98675T= (p.Ile32892=) c.79760T= (p.Ile26587=) c.79559T= (p.Ile26520=) c.79184T= (p.Ile26395=) c.106379T= (p.Ile35460=) c.101456T= (p.Ile33819=) n.446+6476A= n.220-5620A= c.105476T= (p.Ile35159=) c.79370T= (p.Ile26457=) c.79229T= (p.Ile26410=) c.105272T= (p.Ile35091=) c.100670T= (p.Ile33557=) c.100667T= (p.Ile33556=) c.97709T= (p.Ile32570=) c.79325T= (p.Ile26442=) c.100820T= (p.Ile33607=) c.100817T= (p.Ile33606=) c.100250T= (p.Ile33417=) c.97592T= (p.Ile32531=) c.97511T= (p.Ile32504=) c.79274T= (p.Ile26425=) c.69128T= (p.Ile23043=) | |
2 | g.178530112A>C | CA349405625 | TTN,TTN-AS1 | c.98675T>G (p.Ile32892Ser) c.79760T>G (p.Ile26587Ser) c.79559T>G (p.Ile26520Ser) c.79184T>G (p.Ile26395Ser) c.106379T>G (p.Ile35460Ser) c.101456T>G (p.Ile33819Ser) n.446+6476A>C n.220-5620A>C c.105476T>G (p.Ile35159Ser) c.79370T>G (p.Ile26457Ser) c.79229T>G (p.Ile26410Ser) c.105272T>G (p.Ile35091Ser) c.100670T>G (p.Ile33557Ser) c.100667T>G (p.Ile33556Ser) c.97709T>G (p.Ile32570Ser) c.79325T>G (p.Ile26442Ser) c.100820T>G (p.Ile33607Ser) c.100817T>G (p.Ile33606Ser) c.100250T>G (p.Ile33417Ser) c.97592T>G (p.Ile32531Ser) c.97511T>G (p.Ile32504Ser) c.79274T>G (p.Ile26425Ser) c.69128T>G (p.Ile23043Ser) | |
2 | g.178530112A>G | CA349405624 | TTN,TTN-AS1 | c.98675T>C (p.Ile32892Thr) c.79760T>C (p.Ile26587Thr) c.79559T>C (p.Ile26520Thr) c.79184T>C (p.Ile26395Thr) c.106379T>C (p.Ile35460Thr) c.101456T>C (p.Ile33819Thr) n.446+6476A>G n.220-5620A>G c.105476T>C (p.Ile35159Thr) c.79370T>C (p.Ile26457Thr) c.79229T>C (p.Ile26410Thr) c.105272T>C (p.Ile35091Thr) c.100670T>C (p.Ile33557Thr) c.100667T>C (p.Ile33556Thr) c.97709T>C (p.Ile32570Thr) c.79325T>C (p.Ile26442Thr) c.100820T>C (p.Ile33607Thr) c.100817T>C (p.Ile33606Thr) c.100250T>C (p.Ile33417Thr) c.97592T>C (p.Ile32531Thr) c.97511T>C (p.Ile32504Thr) c.79274T>C (p.Ile26425Thr) c.69128T>C (p.Ile23043Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530112A>T | CA349405622 | TTN,TTN-AS1 | c.98675T>A (p.Ile32892Asn) c.79760T>A (p.Ile26587Asn) c.79559T>A (p.Ile26520Asn) c.79184T>A (p.Ile26395Asn) c.106379T>A (p.Ile35460Asn) c.101456T>A (p.Ile33819Asn) n.446+6476A>T n.220-5620A>T c.105476T>A (p.Ile35159Asn) c.79370T>A (p.Ile26457Asn) c.79229T>A (p.Ile26410Asn) c.105272T>A (p.Ile35091Asn) c.100670T>A (p.Ile33557Asn) c.100667T>A (p.Ile33556Asn) c.97709T>A (p.Ile32570Asn) c.79325T>A (p.Ile26442Asn) c.100820T>A (p.Ile33607Asn) c.100817T>A (p.Ile33606Asn) c.100250T>A (p.Ile33417Asn) c.97592T>A (p.Ile32531Asn) c.97511T>A (p.Ile32504Asn) c.79274T>A (p.Ile26425Asn) c.69128T>A (p.Ile23043Asn) | |
2 | g.178530113T>A | CA349405627 | TTN,TTN-AS1 | c.98674A>T (p.Ile32892Phe) c.79759A>T (p.Ile26587Phe) c.79558A>T (p.Ile26520Phe) c.79183A>T (p.Ile26395Phe) c.106378A>T (p.Ile35460Phe) c.101455A>T (p.Ile33819Phe) n.446+6477T>A n.220-5619T>A c.105475A>T (p.Ile35159Phe) c.79369A>T (p.Ile26457Phe) c.79228A>T (p.Ile26410Phe) c.105271A>T (p.Ile35091Phe) c.100669A>T (p.Ile33557Phe) c.100666A>T (p.Ile33556Phe) c.97708A>T (p.Ile32570Phe) c.79324A>T (p.Ile26442Phe) c.100819A>T (p.Ile33607Phe) c.100816A>T (p.Ile33606Phe) c.100249A>T (p.Ile33417Phe) c.97591A>T (p.Ile32531Phe) c.97510A>T (p.Ile32504Phe) c.79273A>T (p.Ile26425Phe) c.69127A>T (p.Ile23043Phe) | |
2 | g.178530113T>C | CA349405629 | TTN,TTN-AS1 | c.98674A>G (p.Ile32892Val) c.79759A>G (p.Ile26587Val) c.79558A>G (p.Ile26520Val) c.79183A>G (p.Ile26395Val) c.106378A>G (p.Ile35460Val) c.101455A>G (p.Ile33819Val) n.446+6477T>C n.220-5619T>C c.105475A>G (p.Ile35159Val) c.79369A>G (p.Ile26457Val) c.79228A>G (p.Ile26410Val) c.105271A>G (p.Ile35091Val) c.100669A>G (p.Ile33557Val) c.100666A>G (p.Ile33556Val) c.97708A>G (p.Ile32570Val) c.79324A>G (p.Ile26442Val) c.100819A>G (p.Ile33607Val) c.100816A>G (p.Ile33606Val) c.100249A>G (p.Ile33417Val) c.97591A>G (p.Ile32531Val) c.97510A>G (p.Ile32504Val) c.79273A>G (p.Ile26425Val) c.69127A>G (p.Ile23043Val) | ClinVar dbSNP gnomAD v4 |
2 | g.178530113T>G | CA349405632 | TTN,TTN-AS1 | c.98674A>C (p.Ile32892Leu) c.79759A>C (p.Ile26587Leu) c.79558A>C (p.Ile26520Leu) c.79183A>C (p.Ile26395Leu) c.106378A>C (p.Ile35460Leu) c.101455A>C (p.Ile33819Leu) n.446+6477T>G n.220-5619T>G c.105475A>C (p.Ile35159Leu) c.79369A>C (p.Ile26457Leu) c.79228A>C (p.Ile26410Leu) c.105271A>C (p.Ile35091Leu) c.100669A>C (p.Ile33557Leu) c.100666A>C (p.Ile33556Leu) c.97708A>C (p.Ile32570Leu) c.79324A>C (p.Ile26442Leu) c.100819A>C (p.Ile33607Leu) c.100816A>C (p.Ile33606Leu) c.100249A>C (p.Ile33417Leu) c.97591A>C (p.Ile32531Leu) c.97510A>C (p.Ile32504Leu) c.79273A>C (p.Ile26425Leu) c.69127A>C (p.Ile23043Leu) | |
2 | g.178530113T= | CA1310511517 | TTN,TTN-AS1 | c.98674A= (p.Ile32892=) c.79759A= (p.Ile26587=) c.79558A= (p.Ile26520=) c.79183A= (p.Ile26395=) c.106378A= (p.Ile35460=) c.101455A= (p.Ile33819=) n.446+6477T= n.220-5619T= c.105475A= (p.Ile35159=) c.79369A= (p.Ile26457=) c.79228A= (p.Ile26410=) c.105271A= (p.Ile35091=) c.100669A= (p.Ile33557=) c.100666A= (p.Ile33556=) c.97708A= (p.Ile32570=) c.79324A= (p.Ile26442=) c.100819A= (p.Ile33607=) c.100816A= (p.Ile33606=) c.100249A= (p.Ile33417=) c.97591A= (p.Ile32531=) c.97510A= (p.Ile32504=) c.79273A= (p.Ile26425=) c.69127A= (p.Ile23043=) | |
2 | g.178530114G>A | CA1985114 | TTN,TTN-AS1 | c.98673C>T (p.Ala32891=) c.79758C>T (p.Ala26586=) c.79557C>T (p.Ala26519=) c.79182C>T (p.Ala26394=) c.106377C>T (p.Ala35459=) c.101454C>T (p.Ala33818=) n.446+6478G>A n.220-5618G>A c.105474C>T (p.Ala35158=) c.79368C>T (p.Ala26456=) c.79227C>T (p.Ala26409=) c.105270C>T (p.Ala35090=) c.100668C>T (p.Ala33556=) c.100665C>T (p.Ala33555=) c.97707C>T (p.Ala32569=) c.79323C>T (p.Ala26441=) c.100818C>T (p.Ala33606=) c.100815C>T (p.Ala33605=) c.100248C>T (p.Ala33416=) c.97590C>T (p.Ala32530=) c.97509C>T (p.Ala32503=) c.79272C>T (p.Ala26424=) c.69126C>T (p.Ala23042=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530114G>C | CA430094143 | TTN,TTN-AS1 | c.98673C>G (p.Ala32891=) c.79758C>G (p.Ala26586=) c.79557C>G (p.Ala26519=) c.79182C>G (p.Ala26394=) c.106377C>G (p.Ala35459=) c.101454C>G (p.Ala33818=) n.446+6478G>C n.220-5618G>C c.105474C>G (p.Ala35158=) c.79368C>G (p.Ala26456=) c.79227C>G (p.Ala26409=) c.105270C>G (p.Ala35090=) c.100668C>G (p.Ala33556=) c.100665C>G (p.Ala33555=) c.97707C>G (p.Ala32569=) c.79323C>G (p.Ala26441=) c.100818C>G (p.Ala33606=) c.100815C>G (p.Ala33605=) c.100248C>G (p.Ala33416=) c.97590C>G (p.Ala32530=) c.97509C>G (p.Ala32503=) c.79272C>G (p.Ala26424=) c.69126C>G (p.Ala23042=) | |
2 | g.178530114G= | CA1310511520 | TTN,TTN-AS1 | c.98673C= (p.Ala32891=) c.79758C= (p.Ala26586=) c.79557C= (p.Ala26519=) c.79182C= (p.Ala26394=) c.106377C= (p.Ala35459=) c.101454C= (p.Ala33818=) n.446+6478G= n.220-5618G= c.105474C= (p.Ala35158=) c.79368C= (p.Ala26456=) c.79227C= (p.Ala26409=) c.105270C= (p.Ala35090=) c.100668C= (p.Ala33556=) c.100665C= (p.Ala33555=) c.97707C= (p.Ala32569=) c.79323C= (p.Ala26441=) c.100818C= (p.Ala33606=) c.100815C= (p.Ala33605=) c.100248C= (p.Ala33416=) c.97590C= (p.Ala32530=) c.97509C= (p.Ala32503=) c.79272C= (p.Ala26424=) c.69126C= (p.Ala23042=) | |
2 | g.178530114G>T | CA430094145 | TTN,TTN-AS1 | c.98673C>A (p.Ala32891=) c.79758C>A (p.Ala26586=) c.79557C>A (p.Ala26519=) c.79182C>A (p.Ala26394=) c.106377C>A (p.Ala35459=) c.101454C>A (p.Ala33818=) n.446+6478G>T n.220-5618G>T c.105474C>A (p.Ala35158=) c.79368C>A (p.Ala26456=) c.79227C>A (p.Ala26409=) c.105270C>A (p.Ala35090=) c.100668C>A (p.Ala33556=) c.100665C>A (p.Ala33555=) c.97707C>A (p.Ala32569=) c.79323C>A (p.Ala26441=) c.100818C>A (p.Ala33606=) c.100815C>A (p.Ala33605=) c.100248C>A (p.Ala33416=) c.97590C>A (p.Ala32530=) c.97509C>A (p.Ala32503=) c.79272C>A (p.Ala26424=) c.69126C>A (p.Ala23042=) | |
2 | g.178530115G>A | CA60953079 | TTN,TTN-AS1 | c.98672C>T (p.Ala32891Val) c.79757C>T (p.Ala26586Val) c.79556C>T (p.Ala26519Val) c.79181C>T (p.Ala26394Val) c.106376C>T (p.Ala35459Val) c.101453C>T (p.Ala33818Val) n.446+6479G>A n.220-5617G>A c.105473C>T (p.Ala35158Val) c.79367C>T (p.Ala26456Val) c.79226C>T (p.Ala26409Val) c.105269C>T (p.Ala35090Val) c.100667C>T (p.Ala33556Val) c.100664C>T (p.Ala33555Val) c.97706C>T (p.Ala32569Val) c.79322C>T (p.Ala26441Val) c.100817C>T (p.Ala33606Val) c.100814C>T (p.Ala33605Val) c.100247C>T (p.Ala33416Val) c.97589C>T (p.Ala32530Val) c.97508C>T (p.Ala32503Val) c.79271C>T (p.Ala26424Val) c.69125C>T (p.Ala23042Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530115G>C | CA349405637 | TTN,TTN-AS1 | c.98672C>G (p.Ala32891Gly) c.79757C>G (p.Ala26586Gly) c.79556C>G (p.Ala26519Gly) c.79181C>G (p.Ala26394Gly) c.106376C>G (p.Ala35459Gly) c.101453C>G (p.Ala33818Gly) n.446+6479G>C n.220-5617G>C c.105473C>G (p.Ala35158Gly) c.79367C>G (p.Ala26456Gly) c.79226C>G (p.Ala26409Gly) c.105269C>G (p.Ala35090Gly) c.100667C>G (p.Ala33556Gly) c.100664C>G (p.Ala33555Gly) c.97706C>G (p.Ala32569Gly) c.79322C>G (p.Ala26441Gly) c.100817C>G (p.Ala33606Gly) c.100814C>G (p.Ala33605Gly) c.100247C>G (p.Ala33416Gly) c.97589C>G (p.Ala32530Gly) c.97508C>G (p.Ala32503Gly) c.79271C>G (p.Ala26424Gly) c.69125C>G (p.Ala23042Gly) | |
2 | g.178530115G= | CA1310511528 | TTN,TTN-AS1 | c.98672C= (p.Ala32891=) c.79757C= (p.Ala26586=) c.79556C= (p.Ala26519=) c.79181C= (p.Ala26394=) c.106376C= (p.Ala35459=) c.101453C= (p.Ala33818=) n.446+6479G= n.220-5617G= c.105473C= (p.Ala35158=) c.79367C= (p.Ala26456=) c.79226C= (p.Ala26409=) c.105269C= (p.Ala35090=) c.100667C= (p.Ala33556=) c.100664C= (p.Ala33555=) c.97706C= (p.Ala32569=) c.79322C= (p.Ala26441=) c.100817C= (p.Ala33606=) c.100814C= (p.Ala33605=) c.100247C= (p.Ala33416=) c.97589C= (p.Ala32530=) c.97508C= (p.Ala32503=) c.79271C= (p.Ala26424=) c.69125C= (p.Ala23042=) | |
2 | g.178530115G>T | CA349405639 | TTN,TTN-AS1 | c.98672C>A (p.Ala32891Asp) c.79757C>A (p.Ala26586Asp) c.79556C>A (p.Ala26519Asp) c.79181C>A (p.Ala26394Asp) c.106376C>A (p.Ala35459Asp) c.101453C>A (p.Ala33818Asp) n.446+6479G>T n.220-5617G>T c.105473C>A (p.Ala35158Asp) c.79367C>A (p.Ala26456Asp) c.79226C>A (p.Ala26409Asp) c.105269C>A (p.Ala35090Asp) c.100667C>A (p.Ala33556Asp) c.100664C>A (p.Ala33555Asp) c.97706C>A (p.Ala32569Asp) c.79322C>A (p.Ala26441Asp) c.100817C>A (p.Ala33606Asp) c.100814C>A (p.Ala33605Asp) c.100247C>A (p.Ala33416Asp) c.97589C>A (p.Ala32530Asp) c.97508C>A (p.Ala32503Asp) c.79271C>A (p.Ala26424Asp) c.69125C>A (p.Ala23042Asp) | |
2 | g.178530116C>A | CA349405642 | TTN,TTN-AS1 | c.98671G>T (p.Ala32891Ser) c.79756G>T (p.Ala26586Ser) c.79555G>T (p.Ala26519Ser) c.79180G>T (p.Ala26394Ser) c.106375G>T (p.Ala35459Ser) c.101452G>T (p.Ala33818Ser) n.446+6480C>A n.220-5616C>A c.105472G>T (p.Ala35158Ser) c.79366G>T (p.Ala26456Ser) c.79225G>T (p.Ala26409Ser) c.105268G>T (p.Ala35090Ser) c.100666G>T (p.Ala33556Ser) c.100663G>T (p.Ala33555Ser) c.97705G>T (p.Ala32569Ser) c.79321G>T (p.Ala26441Ser) c.100816G>T (p.Ala33606Ser) c.100813G>T (p.Ala33605Ser) c.100246G>T (p.Ala33416Ser) c.97588G>T (p.Ala32530Ser) c.97507G>T (p.Ala32503Ser) c.79270G>T (p.Ala26424Ser) c.69124G>T (p.Ala23042Ser) | |
2 | g.178530116C>G | CA349405644 | TTN,TTN-AS1 | c.98671G>C (p.Ala32891Pro) c.79756G>C (p.Ala26586Pro) c.79555G>C (p.Ala26519Pro) c.79180G>C (p.Ala26394Pro) c.106375G>C (p.Ala35459Pro) c.101452G>C (p.Ala33818Pro) n.446+6480C>G n.220-5616C>G c.105472G>C (p.Ala35158Pro) c.79366G>C (p.Ala26456Pro) c.79225G>C (p.Ala26409Pro) c.105268G>C (p.Ala35090Pro) c.100666G>C (p.Ala33556Pro) c.100663G>C (p.Ala33555Pro) c.97705G>C (p.Ala32569Pro) c.79321G>C (p.Ala26441Pro) c.100816G>C (p.Ala33606Pro) c.100813G>C (p.Ala33605Pro) c.100246G>C (p.Ala33416Pro) c.97588G>C (p.Ala32530Pro) c.97507G>C (p.Ala32503Pro) c.79270G>C (p.Ala26424Pro) c.69124G>C (p.Ala23042Pro) | |
2 | g.178530116C>T | CA349405646 | TTN,TTN-AS1 | c.98671G>A (p.Ala32891Thr) c.79756G>A (p.Ala26586Thr) c.79555G>A (p.Ala26519Thr) c.79180G>A (p.Ala26394Thr) c.106375G>A (p.Ala35459Thr) c.101452G>A (p.Ala33818Thr) n.446+6480C>T n.220-5616C>T c.105472G>A (p.Ala35158Thr) c.79366G>A (p.Ala26456Thr) c.79225G>A (p.Ala26409Thr) c.105268G>A (p.Ala35090Thr) c.100666G>A (p.Ala33556Thr) c.100663G>A (p.Ala33555Thr) c.97705G>A (p.Ala32569Thr) c.79321G>A (p.Ala26441Thr) c.100816G>A (p.Ala33606Thr) c.100813G>A (p.Ala33605Thr) c.100246G>A (p.Ala33416Thr) c.97588G>A (p.Ala32530Thr) c.97507G>A (p.Ala32503Thr) c.79270G>A (p.Ala26424Thr) c.69124G>A (p.Ala23042Thr) | |
2 | g.178530119_178530242del | CA2753330714 | TTN,TTN-AS1 | c.98670+2_98671del c.79755+2_79756del c.79554+2_79555del c.79179+2_79180del c.106374+2_106375del c.101451+2_101452del n.446+6483_446+6606del n.220-5613_220-5490del c.105471+2_105472del c.79365+2_79366del c.79224+2_79225del c.105267+2_105268del c.100665+2_100666del c.100662+2_100663del c.97704+2_97705del c.79320+2_79321del c.100815+2_100816del c.100812+2_100813del c.100245+2_100246del c.97587+2_97588del c.97506+2_97507del c.79269+2_79270del c.69123+2_69124del | |
2 | g.178530117C>A | CA349405650 | TTN,TTN-AS1 | c.98671-1G>T (n.98671-1G>T) c.79756-1G>T (n.79756-1G>T) c.79555-1G>T (n.79555-1G>T) c.79180-1G>T (n.79180-1G>T) c.106375-1G>T (n.106375-1G>T) c.101452-1G>T (n.101452-1G>T) n.446+6481C>A n.220-5615C>A c.105472-1G>T (n.105472-1G>T) c.79366-1G>T (n.79366-1G>T) c.79225-1G>T (n.79225-1G>T) c.105268-1G>T (n.105268-1G>T) c.100666-1G>T (n.100666-1G>T) c.100663-1G>T (n.100663-1G>T) c.97705-1G>T (n.97705-1G>T) c.79321-1G>T (n.79321-1G>T) c.100816-1G>T (n.100816-1G>T) c.100813-1G>T (n.100813-1G>T) c.100246-1G>T (n.100246-1G>T) c.97588-1G>T (n.97588-1G>T) c.97507-1G>T (n.97507-1G>T) c.79270-1G>T (n.79270-1G>T) c.69124-1G>T (n.69124-1G>T) | |
2 | g.178530117C>G | CA349405651 | TTN,TTN-AS1 | c.98671-1G>C (n.98671-1G>C) c.79756-1G>C (n.79756-1G>C) c.79555-1G>C (n.79555-1G>C) c.79180-1G>C (n.79180-1G>C) c.106375-1G>C (n.106375-1G>C) c.101452-1G>C (n.101452-1G>C) n.446+6481C>G n.220-5615C>G c.105472-1G>C (n.105472-1G>C) c.79366-1G>C (n.79366-1G>C) c.79225-1G>C (n.79225-1G>C) c.105268-1G>C (n.105268-1G>C) c.100666-1G>C (n.100666-1G>C) c.100663-1G>C (n.100663-1G>C) c.97705-1G>C (n.97705-1G>C) c.79321-1G>C (n.79321-1G>C) c.100816-1G>C (n.100816-1G>C) c.100813-1G>C (n.100813-1G>C) c.100246-1G>C (n.100246-1G>C) c.97588-1G>C (n.97588-1G>C) c.97507-1G>C (n.97507-1G>C) c.79270-1G>C (n.79270-1G>C) c.69124-1G>C (n.69124-1G>C) | |
2 | g.178530117C>T | CA349405654 | TTN,TTN-AS1 | c.98671-1G>A (n.98671-1G>A) c.79756-1G>A (n.79756-1G>A) c.79555-1G>A (n.79555-1G>A) c.79180-1G>A (n.79180-1G>A) c.106375-1G>A (n.106375-1G>A) c.101452-1G>A (n.101452-1G>A) n.446+6481C>T n.220-5615C>T c.105472-1G>A (n.105472-1G>A) c.79366-1G>A (n.79366-1G>A) c.79225-1G>A (n.79225-1G>A) c.105268-1G>A (n.105268-1G>A) c.100666-1G>A (n.100666-1G>A) c.100663-1G>A (n.100663-1G>A) c.97705-1G>A (n.97705-1G>A) c.79321-1G>A (n.79321-1G>A) c.100816-1G>A (n.100816-1G>A) c.100813-1G>A (n.100813-1G>A) c.100246-1G>A (n.100246-1G>A) c.97588-1G>A (n.97588-1G>A) c.97507-1G>A (n.97507-1G>A) c.79270-1G>A (n.79270-1G>A) c.69124-1G>A (n.69124-1G>A) | |
2 | g.178530118T>A | CA349405659 | TTN,TTN-AS1 | c.98671-2A>T (n.98671-2A>T) c.79756-2A>T (n.79756-2A>T) c.79555-2A>T (n.79555-2A>T) c.79180-2A>T (n.79180-2A>T) c.106375-2A>T (n.106375-2A>T) c.101452-2A>T (n.101452-2A>T) n.446+6482T>A n.220-5614T>A c.105472-2A>T (n.105472-2A>T) c.79366-2A>T (n.79366-2A>T) c.79225-2A>T (n.79225-2A>T) c.105268-2A>T (n.105268-2A>T) c.100666-2A>T (n.100666-2A>T) c.100663-2A>T (n.100663-2A>T) c.97705-2A>T (n.97705-2A>T) c.79321-2A>T (n.79321-2A>T) c.100816-2A>T (n.100816-2A>T) c.100813-2A>T (n.100813-2A>T) c.100246-2A>T (n.100246-2A>T) c.97588-2A>T (n.97588-2A>T) c.97507-2A>T (n.97507-2A>T) c.79270-2A>T (n.79270-2A>T) c.69124-2A>T (n.69124-2A>T) | |
2 | g.178530118T>C | CA349405662 | TTN,TTN-AS1 | c.98671-2A>G (n.98671-2A>G) c.79756-2A>G (n.79756-2A>G) c.79555-2A>G (n.79555-2A>G) c.79180-2A>G (n.79180-2A>G) c.106375-2A>G (n.106375-2A>G) c.101452-2A>G (n.101452-2A>G) n.446+6482T>C n.220-5614T>C c.105472-2A>G (n.105472-2A>G) c.79366-2A>G (n.79366-2A>G) c.79225-2A>G (n.79225-2A>G) c.105268-2A>G (n.105268-2A>G) c.100666-2A>G (n.100666-2A>G) c.100663-2A>G (n.100663-2A>G) c.97705-2A>G (n.97705-2A>G) c.79321-2A>G (n.79321-2A>G) c.100816-2A>G (n.100816-2A>G) c.100813-2A>G (n.100813-2A>G) c.100246-2A>G (n.100246-2A>G) c.97588-2A>G (n.97588-2A>G) c.97507-2A>G (n.97507-2A>G) c.79270-2A>G (n.79270-2A>G) c.69124-2A>G (n.69124-2A>G) | ClinVar dbSNP |
2 | g.178530118T>G | CA349405657 | TTN,TTN-AS1 | c.98671-2A>C (n.98671-2A>C) c.79756-2A>C (n.79756-2A>C) c.79555-2A>C (n.79555-2A>C) c.79180-2A>C (n.79180-2A>C) c.106375-2A>C (n.106375-2A>C) c.101452-2A>C (n.101452-2A>C) n.446+6482T>G n.220-5614T>G c.105472-2A>C (n.105472-2A>C) c.79366-2A>C (n.79366-2A>C) c.79225-2A>C (n.79225-2A>C) c.105268-2A>C (n.105268-2A>C) c.100666-2A>C (n.100666-2A>C) c.100663-2A>C (n.100663-2A>C) c.97705-2A>C (n.97705-2A>C) c.79321-2A>C (n.79321-2A>C) c.100816-2A>C (n.100816-2A>C) c.100813-2A>C (n.100813-2A>C) c.100246-2A>C (n.100246-2A>C) c.97588-2A>C (n.97588-2A>C) c.97507-2A>C (n.97507-2A>C) c.79270-2A>C (n.79270-2A>C) c.69124-2A>C (n.69124-2A>C) | |
2 | g.178530118T= | CA1310511537 | TTN,TTN-AS1 | c.98671-2A= (n.98671-2A=) c.79756-2A= (n.79756-2A=) c.79555-2A= (n.79555-2A=) c.79180-2A= (n.79180-2A=) c.106375-2A= (n.106375-2A=) c.101452-2A= (n.101452-2A=) n.446+6482T= n.220-5614T= c.105472-2A= (n.105472-2A=) c.79366-2A= (n.79366-2A=) c.79225-2A= (n.79225-2A=) c.105268-2A= (n.105268-2A=) c.100666-2A= (n.100666-2A=) c.100663-2A= (n.100663-2A=) c.97705-2A= (n.97705-2A=) c.79321-2A= (n.79321-2A=) c.100816-2A= (n.100816-2A=) c.100813-2A= (n.100813-2A=) c.100246-2A= (n.100246-2A=) c.97588-2A= (n.97588-2A=) c.97507-2A= (n.97507-2A=) c.79270-2A= (n.79270-2A=) c.69124-2A= (n.69124-2A=) | |
2 | g.178530119G>A | CA916081320 | TTN,TTN-AS1 | c.98671-3C>T (n.98671-3C>T) c.79756-3C>T (n.79756-3C>T) c.79555-3C>T (n.79555-3C>T) c.79180-3C>T (n.79180-3C>T) c.106375-3C>T (n.106375-3C>T) c.101452-3C>T (n.101452-3C>T) n.446+6483G>A n.220-5613G>A c.105472-3C>T (n.105472-3C>T) c.79366-3C>T (n.79366-3C>T) c.79225-3C>T (n.79225-3C>T) c.105268-3C>T (n.105268-3C>T) c.100666-3C>T (n.100666-3C>T) c.100663-3C>T (n.100663-3C>T) c.97705-3C>T (n.97705-3C>T) c.79321-3C>T (n.79321-3C>T) c.100816-3C>T (n.100816-3C>T) c.100813-3C>T (n.100813-3C>T) c.100246-3C>T (n.100246-3C>T) c.97588-3C>T (n.97588-3C>T) c.97507-3C>T (n.97507-3C>T) c.79270-3C>T (n.79270-3C>T) c.69124-3C>T (n.69124-3C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.178530119G= | CA1310511540 | TTN,TTN-AS1 | c.98671-3C= (n.98671-3C=) c.79756-3C= (n.79756-3C=) c.79555-3C= (n.79555-3C=) c.79180-3C= (n.79180-3C=) c.106375-3C= (n.106375-3C=) c.101452-3C= (n.101452-3C=) n.446+6483G= n.220-5613G= c.105472-3C= (n.105472-3C=) c.79366-3C= (n.79366-3C=) c.79225-3C= (n.79225-3C=) c.105268-3C= (n.105268-3C=) c.100666-3C= (n.100666-3C=) c.100663-3C= (n.100663-3C=) c.97705-3C= (n.97705-3C=) c.79321-3C= (n.79321-3C=) c.100816-3C= (n.100816-3C=) c.100813-3C= (n.100813-3C=) c.100246-3C= (n.100246-3C=) c.97588-3C= (n.97588-3C=) c.97507-3C= (n.97507-3C=) c.79270-3C= (n.79270-3C=) c.69124-3C= (n.69124-3C=) | |
2 | g.178530121A= | CA1310511544 | TTN,TTN-AS1 | c.98671-5T= (n.98671-5T=) c.79756-5T= (n.79756-5T=) c.79555-5T= (n.79555-5T=) c.79180-5T= (n.79180-5T=) c.106375-5T= (n.106375-5T=) c.101452-5T= (n.101452-5T=) n.446+6485A= n.220-5611A= c.105472-5T= (n.105472-5T=) c.79366-5T= (n.79366-5T=) c.79225-5T= (n.79225-5T=) c.105268-5T= (n.105268-5T=) c.100666-5T= (n.100666-5T=) c.100663-5T= (n.100663-5T=) c.97705-5T= (n.97705-5T=) c.79321-5T= (n.79321-5T=) c.100816-5T= (n.100816-5T=) c.100813-5T= (n.100813-5T=) c.100246-5T= (n.100246-5T=) c.97588-5T= (n.97588-5T=) c.97507-5T= (n.97507-5T=) c.79270-5T= (n.79270-5T=) c.69124-5T= (n.69124-5T=) | |
2 | g.178530121A>C | CA761284420 | TTN,TTN-AS1 | c.98671-5T>G (n.98671-5T>G) c.79756-5T>G (n.79756-5T>G) c.79555-5T>G (n.79555-5T>G) c.79180-5T>G (n.79180-5T>G) c.106375-5T>G (n.106375-5T>G) c.101452-5T>G (n.101452-5T>G) n.446+6485A>C n.220-5611A>C c.105472-5T>G (n.105472-5T>G) c.79366-5T>G (n.79366-5T>G) c.79225-5T>G (n.79225-5T>G) c.105268-5T>G (n.105268-5T>G) c.100666-5T>G (n.100666-5T>G) c.100663-5T>G (n.100663-5T>G) c.97705-5T>G (n.97705-5T>G) c.79321-5T>G (n.79321-5T>G) c.100816-5T>G (n.100816-5T>G) c.100813-5T>G (n.100813-5T>G) c.100246-5T>G (n.100246-5T>G) c.97588-5T>G (n.97588-5T>G) c.97507-5T>G (n.97507-5T>G) c.79270-5T>G (n.79270-5T>G) c.69124-5T>G (n.69124-5T>G) | dbSNP |
2 | g.178530122G>A | CA2573134085 | TTN,TTN-AS1 | c.98671-6C>T (n.98671-6C>T) c.79756-6C>T (n.79756-6C>T) c.79555-6C>T (n.79555-6C>T) c.79180-6C>T (n.79180-6C>T) c.106375-6C>T (n.106375-6C>T) c.101452-6C>T (n.101452-6C>T) n.446+6486G>A n.220-5610G>A c.105472-6C>T (n.105472-6C>T) c.79366-6C>T (n.79366-6C>T) c.79225-6C>T (n.79225-6C>T) c.105268-6C>T (n.105268-6C>T) c.100666-6C>T (n.100666-6C>T) c.100663-6C>T (n.100663-6C>T) c.97705-6C>T (n.97705-6C>T) c.79321-6C>T (n.79321-6C>T) c.100816-6C>T (n.100816-6C>T) c.100813-6C>T (n.100813-6C>T) c.100246-6C>T (n.100246-6C>T) c.97588-6C>T (n.97588-6C>T) c.97507-6C>T (n.97507-6C>T) c.79270-6C>T (n.79270-6C>T) c.69124-6C>T (n.69124-6C>T) | ClinVar dbSNP |
2 | g.178530123A= | CA1310511545 | TTN,TTN-AS1 | c.98671-7T= (n.98671-7T=) c.79756-7T= (n.79756-7T=) c.79555-7T= (n.79555-7T=) c.79180-7T= (n.79180-7T=) c.106375-7T= (n.106375-7T=) c.101452-7T= (n.101452-7T=) n.446+6487A= n.220-5609A= c.105472-7T= (n.105472-7T=) c.79366-7T= (n.79366-7T=) c.79225-7T= (n.79225-7T=) c.105268-7T= (n.105268-7T=) c.100666-7T= (n.100666-7T=) c.100663-7T= (n.100663-7T=) c.97705-7T= (n.97705-7T=) c.79321-7T= (n.79321-7T=) c.100816-7T= (n.100816-7T=) c.100813-7T= (n.100813-7T=) c.100246-7T= (n.100246-7T=) c.97588-7T= (n.97588-7T=) c.97507-7T= (n.97507-7T=) c.79270-7T= (n.79270-7T=) c.69124-7T= (n.69124-7T=) | |
2 | g.178530123A>C | CA2662125464 | TTN,TTN-AS1 | c.98671-7T>G (n.98671-7T>G) c.79756-7T>G (n.79756-7T>G) c.79555-7T>G (n.79555-7T>G) c.79180-7T>G (n.79180-7T>G) c.106375-7T>G (n.106375-7T>G) c.101452-7T>G (n.101452-7T>G) n.446+6487A>C n.220-5609A>C c.105472-7T>G (n.105472-7T>G) c.79366-7T>G (n.79366-7T>G) c.79225-7T>G (n.79225-7T>G) c.105268-7T>G (n.105268-7T>G) c.100666-7T>G (n.100666-7T>G) c.100663-7T>G (n.100663-7T>G) c.97705-7T>G (n.97705-7T>G) c.79321-7T>G (n.79321-7T>G) c.100816-7T>G (n.100816-7T>G) c.100813-7T>G (n.100813-7T>G) c.100246-7T>G (n.100246-7T>G) c.97588-7T>G (n.97588-7T>G) c.97507-7T>G (n.97507-7T>G) c.79270-7T>G (n.79270-7T>G) c.69124-7T>G (n.69124-7T>G) | gnomAD v4 |
2 | g.178530123A>G | CA60953086 | TTN,TTN-AS1 | c.98671-7T>C (n.98671-7T>C) c.79756-7T>C (n.79756-7T>C) c.79555-7T>C (n.79555-7T>C) c.79180-7T>C (n.79180-7T>C) c.106375-7T>C (n.106375-7T>C) c.101452-7T>C (n.101452-7T>C) n.446+6487A>G n.220-5609A>G c.105472-7T>C (n.105472-7T>C) c.79366-7T>C (n.79366-7T>C) c.79225-7T>C (n.79225-7T>C) c.105268-7T>C (n.105268-7T>C) c.100666-7T>C (n.100666-7T>C) c.100663-7T>C (n.100663-7T>C) c.97705-7T>C (n.97705-7T>C) c.79321-7T>C (n.79321-7T>C) c.100816-7T>C (n.100816-7T>C) c.100813-7T>C (n.100813-7T>C) c.100246-7T>C (n.100246-7T>C) c.97588-7T>C (n.97588-7T>C) c.97507-7T>C (n.97507-7T>C) c.79270-7T>C (n.79270-7T>C) c.69124-7T>C (n.69124-7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530125T>C | CA2662125472 | TTN,TTN-AS1 | c.98671-9A>G (n.98671-9A>G) c.79756-9A>G (n.79756-9A>G) c.79555-9A>G (n.79555-9A>G) c.79180-9A>G (n.79180-9A>G) c.106375-9A>G (n.106375-9A>G) c.101452-9A>G (n.101452-9A>G) n.446+6489T>C n.220-5607T>C c.105472-9A>G (n.105472-9A>G) c.79366-9A>G (n.79366-9A>G) c.79225-9A>G (n.79225-9A>G) c.105268-9A>G (n.105268-9A>G) c.100666-9A>G (n.100666-9A>G) c.100663-9A>G (n.100663-9A>G) c.97705-9A>G (n.97705-9A>G) c.79321-9A>G (n.79321-9A>G) c.100816-9A>G (n.100816-9A>G) c.100813-9A>G (n.100813-9A>G) c.100246-9A>G (n.100246-9A>G) c.97588-9A>G (n.97588-9A>G) c.97507-9A>G (n.97507-9A>G) c.79270-9A>G (n.79270-9A>G) c.69124-9A>G (n.69124-9A>G) | gnomAD v4 |
2 | g.178530126G>A | CA2662125474 | TTN,TTN-AS1 | c.98671-10C>T (n.98671-10C>T) c.79756-10C>T (n.79756-10C>T) c.79555-10C>T (n.79555-10C>T) c.79180-10C>T (n.79180-10C>T) c.106375-10C>T (n.106375-10C>T) c.101452-10C>T (n.101452-10C>T) n.446+6490G>A n.220-5606G>A c.105472-10C>T (n.105472-10C>T) c.79366-10C>T (n.79366-10C>T) c.79225-10C>T (n.79225-10C>T) c.105268-10C>T (n.105268-10C>T) c.100666-10C>T (n.100666-10C>T) c.100663-10C>T (n.100663-10C>T) c.97705-10C>T (n.97705-10C>T) c.79321-10C>T (n.79321-10C>T) c.100816-10C>T (n.100816-10C>T) c.100813-10C>T (n.100813-10C>T) c.100246-10C>T (n.100246-10C>T) c.97588-10C>T (n.97588-10C>T) c.97507-10C>T (n.97507-10C>T) c.79270-10C>T (n.79270-10C>T) c.69124-10C>T (n.69124-10C>T) | gnomAD v4 |
2 | g.178530131T= | CA1310511548 | TTN,TTN-AS1 | c.98671-15A= (n.98671-15A=) c.79756-15A= (n.79756-15A=) c.79555-15A= (n.79555-15A=) c.79180-15A= (n.79180-15A=) c.106375-15A= (n.106375-15A=) c.101452-15A= (n.101452-15A=) n.446+6495T= n.220-5601T= c.105472-15A= (n.105472-15A=) c.79366-15A= (n.79366-15A=) c.79225-15A= (n.79225-15A=) c.105268-15A= (n.105268-15A=) c.100666-15A= (n.100666-15A=) c.100663-15A= (n.100663-15A=) c.97705-15A= (n.97705-15A=) c.79321-15A= (n.79321-15A=) c.100816-15A= (n.100816-15A=) c.100813-15A= (n.100813-15A=) c.100246-15A= (n.100246-15A=) c.97588-15A= (n.97588-15A=) c.97507-15A= (n.97507-15A=) c.79270-15A= (n.79270-15A=) c.69124-15A= (n.69124-15A=) | |
2 | g.178530131_178530132insTAACAATAAAAGGTAGGTTG | CA538090274 | TTN,TTN-AS1 | c.98671-16_98671-15insCAACCTACCTTTTATTGTTA (n.98671-16_98671-15insCAACCTACCTTTTATTGTTA) c.79756-16_79756-15insCAACCTACCTTTTATTGTTA (n.79756-16_79756-15insCAACCTACCTTTTATTGTTA) c.79555-16_79555-15insCAACCTACCTTTTATTGTTA (n.79555-16_79555-15insCAACCTACCTTTTATTGTTA) c.79180-16_79180-15insCAACCTACCTTTTATTGTTA (n.79180-16_79180-15insCAACCTACCTTTTATTGTTA) c.106375-16_106375-15insCAACCTACCTTTTATTGTTA (n.106375-16_106375-15insCAACCTACCTTTTATTGTTA) c.101452-16_101452-15insCAACCTACCTTTTATTGTTA (n.101452-16_101452-15insCAACCTACCTTTTATTGTTA) n.446+6495_446+6496insTAACAATAAAAGGTAGGTTG n.220-5601_220-5600insTAACAATAAAAGGTAGGTTG c.105472-16_105472-15insCAACCTACCTTTTATTGTTA (n.105472-16_105472-15insCAACCTACCTTTTATTGTTA) c.79366-16_79366-15insCAACCTACCTTTTATTGTTA (n.79366-16_79366-15insCAACCTACCTTTTATTGTTA) c.79225-16_79225-15insCAACCTACCTTTTATTGTTA (n.79225-16_79225-15insCAACCTACCTTTTATTGTTA) c.105268-16_105268-15insCAACCTACCTTTTATTGTTA (n.105268-16_105268-15insCAACCTACCTTTTATTGTTA) c.100666-16_100666-15insCAACCTACCTTTTATTGTTA (n.100666-16_100666-15insCAACCTACCTTTTATTGTTA) c.100663-16_100663-15insCAACCTACCTTTTATTGTTA (n.100663-16_100663-15insCAACCTACCTTTTATTGTTA) c.97705-16_97705-15insCAACCTACCTTTTATTGTTA (n.97705-16_97705-15insCAACCTACCTTTTATTGTTA) c.79321-16_79321-15insCAACCTACCTTTTATTGTTA (n.79321-16_79321-15insCAACCTACCTTTTATTGTTA) c.100816-16_100816-15insCAACCTACCTTTTATTGTTA (n.100816-16_100816-15insCAACCTACCTTTTATTGTTA) c.100813-16_100813-15insCAACCTACCTTTTATTGTTA (n.100813-16_100813-15insCAACCTACCTTTTATTGTTA) c.100246-16_100246-15insCAACCTACCTTTTATTGTTA (n.100246-16_100246-15insCAACCTACCTTTTATTGTTA) c.97588-16_97588-15insCAACCTACCTTTTATTGTTA (n.97588-16_97588-15insCAACCTACCTTTTATTGTTA) c.97507-16_97507-15insCAACCTACCTTTTATTGTTA (n.97507-16_97507-15insCAACCTACCTTTTATTGTTA) c.79270-16_79270-15insCAACCTACCTTTTATTGTTA (n.79270-16_79270-15insCAACCTACCTTTTATTGTTA) c.69124-16_69124-15insCAACCTACCTTTTATTGTTA (n.69124-16_69124-15insCAACCTACCTTTTATTGTTA) | dbSNP gnomAD v2 |
2 | g.178530132G>C | CA1310511551 | TTN,TTN-AS1 | c.98671-16C>G (n.98671-16C>G) c.79756-16C>G (n.79756-16C>G) c.79555-16C>G (n.79555-16C>G) c.79180-16C>G (n.79180-16C>G) c.106375-16C>G (n.106375-16C>G) c.101452-16C>G (n.101452-16C>G) n.446+6496G>C n.220-5600G>C c.105472-16C>G (n.105472-16C>G) c.79366-16C>G (n.79366-16C>G) c.79225-16C>G (n.79225-16C>G) c.105268-16C>G (n.105268-16C>G) c.100666-16C>G (n.100666-16C>G) c.100663-16C>G (n.100663-16C>G) c.97705-16C>G (n.97705-16C>G) c.79321-16C>G (n.79321-16C>G) c.100816-16C>G (n.100816-16C>G) c.100813-16C>G (n.100813-16C>G) c.100246-16C>G (n.100246-16C>G) c.97588-16C>G (n.97588-16C>G) c.97507-16C>G (n.97507-16C>G) c.79270-16C>G (n.79270-16C>G) c.69124-16C>G (n.69124-16C>G) | dbSNP |
2 | g.178530132G= | CA1310511550 | TTN,TTN-AS1 | c.98671-16C= (n.98671-16C=) c.79756-16C= (n.79756-16C=) c.79555-16C= (n.79555-16C=) c.79180-16C= (n.79180-16C=) c.106375-16C= (n.106375-16C=) c.101452-16C= (n.101452-16C=) n.446+6496G= n.220-5600G= c.105472-16C= (n.105472-16C=) c.79366-16C= (n.79366-16C=) c.79225-16C= (n.79225-16C=) c.105268-16C= (n.105268-16C=) c.100666-16C= (n.100666-16C=) c.100663-16C= (n.100663-16C=) c.97705-16C= (n.97705-16C=) c.79321-16C= (n.79321-16C=) c.100816-16C= (n.100816-16C=) c.100813-16C= (n.100813-16C=) c.100246-16C= (n.100246-16C=) c.97588-16C= (n.97588-16C=) c.97507-16C= (n.97507-16C=) c.79270-16C= (n.79270-16C=) c.69124-16C= (n.69124-16C=) | |
2 | g.178530132G>T | CA2753330715 | TTN,TTN-AS1 | c.98671-16C>A (n.98671-16C>A) c.79756-16C>A (n.79756-16C>A) c.79555-16C>A (n.79555-16C>A) c.79180-16C>A (n.79180-16C>A) c.106375-16C>A (n.106375-16C>A) c.101452-16C>A (n.101452-16C>A) n.446+6496G>T n.220-5600G>T c.105472-16C>A (n.105472-16C>A) c.79366-16C>A (n.79366-16C>A) c.79225-16C>A (n.79225-16C>A) c.105268-16C>A (n.105268-16C>A) c.100666-16C>A (n.100666-16C>A) c.100663-16C>A (n.100663-16C>A) c.97705-16C>A (n.97705-16C>A) c.79321-16C>A (n.79321-16C>A) c.100816-16C>A (n.100816-16C>A) c.100813-16C>A (n.100813-16C>A) c.100246-16C>A (n.100246-16C>A) c.97588-16C>A (n.97588-16C>A) c.97507-16C>A (n.97507-16C>A) c.79270-16C>A (n.79270-16C>A) c.69124-16C>A (n.69124-16C>A) | |
2 | g.178530133A= | CA1310511555 | TTN,TTN-AS1 | c.98671-17T= (n.98671-17T=) c.79756-17T= (n.79756-17T=) c.79555-17T= (n.79555-17T=) c.79180-17T= (n.79180-17T=) c.106375-17T= (n.106375-17T=) c.101452-17T= (n.101452-17T=) n.446+6497A= n.220-5599A= c.105472-17T= (n.105472-17T=) c.79366-17T= (n.79366-17T=) c.79225-17T= (n.79225-17T=) c.105268-17T= (n.105268-17T=) c.100666-17T= (n.100666-17T=) c.100663-17T= (n.100663-17T=) c.97705-17T= (n.97705-17T=) c.79321-17T= (n.79321-17T=) c.100816-17T= (n.100816-17T=) c.100813-17T= (n.100813-17T=) c.100246-17T= (n.100246-17T=) c.97588-17T= (n.97588-17T=) c.97507-17T= (n.97507-17T=) c.79270-17T= (n.79270-17T=) c.69124-17T= (n.69124-17T=) | |
2 | g.178530133A>C | CA538090275 | TTN,TTN-AS1 | c.98671-17T>G (n.98671-17T>G) c.79756-17T>G (n.79756-17T>G) c.79555-17T>G (n.79555-17T>G) c.79180-17T>G (n.79180-17T>G) c.106375-17T>G (n.106375-17T>G) c.101452-17T>G (n.101452-17T>G) n.446+6497A>C n.220-5599A>C c.105472-17T>G (n.105472-17T>G) c.79366-17T>G (n.79366-17T>G) c.79225-17T>G (n.79225-17T>G) c.105268-17T>G (n.105268-17T>G) c.100666-17T>G (n.100666-17T>G) c.100663-17T>G (n.100663-17T>G) c.97705-17T>G (n.97705-17T>G) c.79321-17T>G (n.79321-17T>G) c.100816-17T>G (n.100816-17T>G) c.100813-17T>G (n.100813-17T>G) c.100246-17T>G (n.100246-17T>G) c.97588-17T>G (n.97588-17T>G) c.97507-17T>G (n.97507-17T>G) c.79270-17T>G (n.79270-17T>G) c.69124-17T>G (n.69124-17T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530133_178530137delinsATTTG | CA1310511553 | TTN,TTN-AS1 | c.98671-21_98671-17delinsCAAAT (n.98671-21_98671-17delinsCAAAT) c.79756-21_79756-17delinsCAAAT (n.79756-21_79756-17delinsCAAAT) c.79555-21_79555-17delinsCAAAT (n.79555-21_79555-17delinsCAAAT) c.79180-21_79180-17delinsCAAAT (n.79180-21_79180-17delinsCAAAT) c.106375-21_106375-17delinsCAAAT (n.106375-21_106375-17delinsCAAAT) c.101452-21_101452-17delinsCAAAT (n.101452-21_101452-17delinsCAAAT) n.446+6497_446+6501delinsATTTG n.220-5599_220-5595delinsATTTG c.105472-21_105472-17delinsCAAAT (n.105472-21_105472-17delinsCAAAT) c.79366-21_79366-17delinsCAAAT (n.79366-21_79366-17delinsCAAAT) c.79225-21_79225-17delinsCAAAT (n.79225-21_79225-17delinsCAAAT) c.105268-21_105268-17delinsCAAAT (n.105268-21_105268-17delinsCAAAT) c.100666-21_100666-17delinsCAAAT (n.100666-21_100666-17delinsCAAAT) c.100663-21_100663-17delinsCAAAT (n.100663-21_100663-17delinsCAAAT) c.97705-21_97705-17delinsCAAAT (n.97705-21_97705-17delinsCAAAT) c.79321-21_79321-17delinsCAAAT (n.79321-21_79321-17delinsCAAAT) c.100816-21_100816-17delinsCAAAT (n.100816-21_100816-17delinsCAAAT) c.100813-21_100813-17delinsCAAAT (n.100813-21_100813-17delinsCAAAT) c.100246-21_100246-17delinsCAAAT (n.100246-21_100246-17delinsCAAAT) c.97588-21_97588-17delinsCAAAT (n.97588-21_97588-17delinsCAAAT) c.97507-21_97507-17delinsCAAAT (n.97507-21_97507-17delinsCAAAT) c.79270-21_79270-17delinsCAAAT (n.79270-21_79270-17delinsCAAAT) c.69124-21_69124-17delinsCAAAT (n.69124-21_69124-17delinsCAAAT) |