Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.73325013_73325021dup | CA971403944 | HCN4 | c.1912_1920dup (p.Val640_Ser641insGlyValVal) c.694_702dup (p.Val234_Ser235insGlyValVal) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.73325018del | CA2629371223 | HCN4 | c.1915del (p.Val639TrpfsTer26) c.697del (p.Val233TrpfsTer26) | gnomAD v4 |
15 | g.73325018C>A | CA393090594 | HCN4 | c.1915G>T (p.Val639Leu) c.697G>T (p.Val233Leu) | |
15 | g.73325018C= | CA2187190392 | HCN4 | c.1915G= (p.Val639=) c.697G= (p.Val233=) | |
15 | g.73325018C>G | CA393090595 | HCN4 | c.1915G>C (p.Val639Leu) c.697G>C (p.Val233Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.73325018C>T | CA246701 | HCN4 | c.1915G>A (p.Val639Met) c.697G>A (p.Val233Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.73325019G>A | CA7649167 | HCN4 | c.1914C>T (p.Gly638=) c.696C>T (p.Gly232=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73325019G>C | CA491478972 | HCN4 | c.1914C>G (p.Gly638=) c.696C>G (p.Gly232=) | |
15 | g.73325019G= | CA2187190402 | HCN4 | c.1914C= (p.Gly638=) c.696C= (p.Gly232=) | |
15 | g.73325019G>T | CA491478973 | HCN4 | c.1914C>A (p.Gly638=) c.696C>A (p.Gly232=) | |
15 | g.73325020C>A | CA393090598 | HCN4 | c.1913G>T (p.Gly638Val) c.695G>T (p.Gly232Val) | ClinVar dbSNP |
15 | g.73325020C>G | CA393090596 | HCN4 | c.1913G>C (p.Gly638Ala) c.695G>C (p.Gly232Ala) | |
15 | g.73325020C>T | CA393090597 | HCN4 | c.1913G>A (p.Gly638Asp) c.695G>A (p.Gly232Asp) | |
15 | g.73325021C>A | CA393090599 | HCN4 | c.1912G>T (p.Gly638Cys) c.694G>T (p.Gly232Cys) | |
15 | g.73325021C>G | CA393090600 | HCN4 | c.1912G>C (p.Gly638Arg) c.694G>C (p.Gly232Arg) | |
15 | g.73325021C>T | CA393090601 | HCN4 | c.1912G>A (p.Gly638Ser) c.694G>A (p.Gly232Ser) | |
15 | g.73325022A= | CA2187190407 | HCN4 | c.1911T= (p.His637=) c.693T= (p.His231=) | |
15 | g.73325022A>C | CA393090602 | HCN4 | c.1911T>G (p.His637Gln) c.693T>G (p.His231Gln) | |
15 | g.73325022A>G | CA7649168 | HCN4 | c.1911T>C (p.His637=) c.693T>C (p.His231=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.73325022A>T | CA393090603 | HCN4 | c.1911T>A (p.His637Gln) c.693T>A (p.His231Gln) | |
15 | g.73325023T>A | CA393090604 | HCN4 | c.1910A>T (p.His637Leu) c.692A>T (p.His231Leu) | |
15 | g.73325023T>C | CA393090605 | HCN4 | c.1910A>G (p.His637Arg) c.692A>G (p.His231Arg) | |
15 | g.73325023T>G | CA393090606 | HCN4 | c.1910A>C (p.His637Pro) c.692A>C (p.His231Pro) | |
15 | g.73325024G>A | CA393090607 | HCN4 | c.1909C>T (p.His637Tyr) c.691C>T (p.His231Tyr) | |
15 | g.73325024G>C | CA393090608 | HCN4 | c.1909C>G (p.His637Asp) c.691C>G (p.His231Asp) | |
15 | g.73325024G>T | CA393090609 | HCN4 | c.1909C>A (p.His637Asn) c.691C>A (p.His231Asn) | |
15 | g.73325025C>A | CA393090610 | HCN4 | c.1908G>T (p.Gln636His) c.690G>T (p.Gln230His) | |
15 | g.73325025C>G | CA393090611 | HCN4 | c.1908G>C (p.Gln636His) c.690G>C (p.Gln230His) | |
15 | g.73325025C>T | CA491478978 | HCN4 | c.1908G>A (p.Gln636=) c.690G>A (p.Gln230=) | gnomAD v4 COSMIC |
15 | g.73325026T>A | CA393090612 | HCN4 | c.1907A>T (p.Gln636Leu) c.689A>T (p.Gln230Leu) | |
15 | g.73325026T>C | CA393090614 | HCN4 | c.1907A>G (p.Gln636Arg) c.689A>G (p.Gln230Arg) | |
15 | g.73325026T>G | CA393090613 | HCN4 | c.1907A>C (p.Gln636Pro) c.689A>C (p.Gln230Pro) | |
15 | g.73325027G>A | CA393090615 | HCN4 | c.1906C>T (p.Gln636Ter) c.688C>T (p.Gln230Ter) | dbSNP |
15 | g.73325027G>C | CA393090616 | HCN4 | c.1906C>G (p.Gln636Glu) c.688C>G (p.Gln230Glu) | |
15 | g.73325027G= | CA2187190412 | HCN4 | c.1906C= (p.Gln636=) c.688C= (p.Gln230=) | |
15 | g.73325027G>T | CA393090617 | HCN4 | c.1906C>A (p.Gln636Lys) c.688C>A (p.Gln230Lys) | |
15 | g.73325028G>A | CA491478985 | HCN4 | c.1905C>T (p.Ile635=) c.687C>T (p.Ile229=) | gnomAD v4 |
15 | g.73325028G>C | CA393090618 | HCN4 | c.1905C>G (p.Ile635Met) c.687C>G (p.Ile229Met) | |
15 | g.73325028G>T | CA491478986 | HCN4 | c.1905C>A (p.Ile635=) c.687C>A (p.Ile229=) | gnomAD v4 |
15 | g.73325029A>C | CA393090619 | HCN4 | c.1904T>G (p.Ile635Ser) c.686T>G (p.Ile229Ser) | |
15 | g.73325029A>G | CA393090620 | HCN4 | c.1904T>C (p.Ile635Thr) c.686T>C (p.Ile229Thr) | |
15 | g.73325029A>T | CA393090621 | HCN4 | c.1904T>A (p.Ile635Asn) c.686T>A (p.Ile229Asn) | |
15 | g.73325030T>A | CA393090622 | HCN4 | c.1903A>T (p.Ile635Phe) c.685A>T (p.Ile229Phe) | |
15 | g.73325030T>C | CA393090623 | HCN4 | c.1903A>G (p.Ile635Val) c.685A>G (p.Ile229Val) | |
15 | g.73325030T>G | CA393090624 | HCN4 | c.1903A>C (p.Ile635Leu) c.685A>C (p.Ile229Leu) | gnomAD v4 |
15 | g.73325031G>A | CA491478988 | HCN4 | c.1902C>T (p.Phe634=) c.684C>T (p.Phe228=) | dbSNP gnomAD v4 |
15 | g.73325031G>C | CA393090625 | HCN4 | c.1902C>G (p.Phe634Leu) c.684C>G (p.Phe228Leu) | |
15 | g.73325031G>T | CA393090626 | HCN4 | c.1902C>A (p.Phe634Leu) c.684C>A (p.Phe228Leu) | |
15 | g.73325032A>C | CA393090629 | HCN4 | c.1901T>G (p.Phe634Cys) c.683T>G (p.Phe228Cys) | |
15 | g.73325032A>G | CA393090627 | HCN4 | c.1901T>C (p.Phe634Ser) c.683T>C (p.Phe228Ser) |