Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5045851dup | CA2013431424 | KCNA5 | c.1704dup (p.Thr569AspfsTer19) | ClinVar dbSNP gnomAD v4 |
12 | g.5045851del | CA919011889 | KCNA5 | c.1704del (p.Thr569ProfsTer15) | dbSNP gnomAD v4 |
12 | g.5045850G>A | CA383467047 | KCNA5 | c.1703G>A (p.Gly568Glu) | gnomAD v4 |
12 | g.5045850G>C | CA6399928 | KCNA5 | c.1703G>C (p.Gly568Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045850G= | CA2013431429 | KCNA5 | c.1703G= (p.Gly568=) | |
12 | g.5045850G>T | CA6399927 | KCNA5 | c.1703G>T (p.Gly568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045851G>A | CA478095866 | KCNA5 | c.1704G>A (p.Gly568=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045851G>C | CA478095867 | KCNA5 | c.1704G>C (p.Gly568=) | |
12 | g.5045851G= | CA2013431430 | KCNA5 | c.1704G= (p.Gly568=) | |
12 | g.5045851G>T | CA478095868 | KCNA5 | c.1704G>T (p.Gly568=) | dbSNP gnomAD v4 |
12 | g.5045852A>C | CA383467048 | KCNA5 | c.1705A>C (p.Thr569Pro) | |
12 | g.5045852A>G | CA383467049 | KCNA5 | c.1705A>G (p.Thr569Ala) | |
12 | g.5045852A>T | CA383467050 | KCNA5 | c.1705A>T (p.Thr569Ser) | gnomAD v4 |
12 | g.5045853C>A | CA383467051 | KCNA5 | c.1706C>A (p.Thr569Asn) | |
12 | g.5045853C= | CA2013431431 | KCNA5 | c.1706C= (p.Thr569=) | |
12 | g.5045853C>G | CA383467052 | KCNA5 | c.1706C>G (p.Thr569Ser) | |
12 | g.5045853C>T | CA383467053 | KCNA5 | c.1706C>T (p.Thr569Ile) | dbSNP |
12 | g.5045854C>A | CA231869311 | KCNA5 | c.1707C>A (p.Thr569=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045854C= | CA2013431432 | KCNA5 | c.1707C= (p.Thr569=) | |
12 | g.5045854C>G | CA478095870 | KCNA5 | c.1707C>G (p.Thr569=) | |
12 | g.5045854C>T | CA6399929 | KCNA5 | c.1707C>T (p.Thr569=) | dbSNP ExAC |
12 | g.5045855C>A | CA383467054 | KCNA5 | c.1708C>A (p.Leu570Met) | |
12 | g.5045855C= | CA2013431433 | KCNA5 | c.1708C= (p.Leu570=) | |
12 | g.5045855C>G | CA6399930 | KCNA5 | c.1708C>G (p.Leu570Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045855C>T | CA478095871 | KCNA5 | c.1708C>T (p.Leu570=) | |
12 | g.5045856T>A | CA383467057 | KCNA5 | c.1709T>A (p.Leu570Gln) | |
12 | g.5045856T>C | CA383467056 | KCNA5 | c.1709T>C (p.Leu570Pro) | COSMIC |
12 | g.5045856T>G | CA383467055 | KCNA5 | c.1709T>G (p.Leu570Arg) | |
12 | g.5045857G>A | CA478095875 | KCNA5 | c.1710G>A (p.Leu570=) | |
12 | g.5045857G>C | CA478095876 | KCNA5 | c.1710G>C (p.Leu570=) | |
12 | g.5045857G>T | CA478095877 | KCNA5 | c.1710G>T (p.Leu570=) | |
12 | g.5045858G>A | CA383467058 | KCNA5 | c.1711G>A (p.Glu571Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045858G>C | CA383467059 | KCNA5 | c.1711G>C (p.Glu571Gln) | dbSNP |
12 | g.5045858G= | CA2013431434 | KCNA5 | c.1711G= (p.Glu571=) | |
12 | g.5045858G>T | CA383467060 | KCNA5 | c.1711G>T (p.Glu571Ter) | |
12 | g.5045859A>C | CA383467061 | KCNA5 | c.1712A>C (p.Glu571Ala) | |
12 | g.5045859A>G | CA383467062 | KCNA5 | c.1712A>G (p.Glu571Gly) | |
12 | g.5045859A>T | CA383467063 | KCNA5 | c.1712A>T (p.Glu571Val) | |
12 | g.5045860G>A | CA6399931 | KCNA5 | c.1713G>A (p.Glu571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045860G>C | CA383467064 | KCNA5 | c.1713G>C (p.Glu571Asp) | |
12 | g.5045860G= | CA2013431435 | KCNA5 | c.1713G= (p.Glu571=) | |
12 | g.5045860G>T | CA383467065 | KCNA5 | c.1713G>T (p.Glu571Asp) | |
12 | g.5045861A>C | CA383467066 | KCNA5 | c.1714A>C (p.Asn572His) | |
12 | g.5045861A>G | CA383467067 | KCNA5 | c.1714A>G (p.Asn572Asp) | |
12 | g.5045861A>T | CA383467068 | KCNA5 | c.1714A>T (p.Asn572Tyr) | |
12 | g.5045862A>C | CA383467069 | KCNA5 | c.1715A>C (p.Asn572Thr) | |
12 | g.5045862A>G | CA383467071 | KCNA5 | c.1715A>G (p.Asn572Ser) | |
12 | g.5045862A>T | CA383467070 | KCNA5 | c.1715A>T (p.Asn572Ile) | |
12 | g.5045863T>A | CA383467072 | KCNA5 | c.1716T>A (p.Asn572Lys) | |
12 | g.5045863T>C | CA478095878 | KCNA5 | c.1716T>C (p.Asn572=) |