| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045197A= | CA2013431122 | KCNA5 | c.1050A= (p.Ala350=) | |
| 12 | g.5045197A>C | CA478095606 | KCNA5 | c.1050A>C (p.Ala350=) | |
| 12 | g.5045197A>G | CA478095609 | KCNA5 | c.1050A>G (p.Ala350=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045197A>T | CA478095608 | KCNA5 | c.1050A>T (p.Ala350=) | |
| 12 | g.5045198G>A | CA383465672 | KCNA5 | c.1051G>A (p.Gly351Arg) | |
| 12 | g.5045198G>C | CA383465673 | KCNA5 | c.1051G>C (p.Gly351Arg) | |
| 12 | g.5045198G>T | CA383465674 | KCNA5 | c.1051G>T (p.Gly351Trp) | |
| 12 | g.5045200del | CA2573148460 | KCNA5 | c.1053del (p.Phe352SerfsTer6) | ClinVar dbSNP |
| 12 | g.5045199G>A | CA383465676 | KCNA5 | c.1052G>A (p.Gly351Glu) | gnomAD v4 |
| 12 | g.5045199G>C | CA6399794 | KCNA5 | c.1052G>C (p.Gly351Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045199G= | CA2013431123 | KCNA5 | c.1052G= (p.Gly351=) | |
| 12 | g.5045199G>T | CA383465675 | KCNA5 | c.1052G>T (p.Gly351Val) | |
| 12 | g.5045200G>A | CA478095613 | KCNA5 | c.1053G>A (p.Gly351=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045200G>C | CA478095614 | KCNA5 | c.1053G>C (p.Gly351=) | |
| 12 | g.5045200G= | CA2013431124 | KCNA5 | c.1053G= (p.Gly351=) | |
| 12 | g.5045200G>T | CA478095615 | KCNA5 | c.1053G>T (p.Gly351=) | gnomAD v4 |
| 12 | g.5045201T>A | CA383465677 | KCNA5 | c.1054T>A (p.Phe352Ile) | |
| 12 | g.5045201T>C | CA383465678 | KCNA5 | c.1054T>C (p.Phe352Leu) | dbSNP gnomAD v4 |
| 12 | g.5045201T>G | CA383465679 | KCNA5 | c.1054T>G (p.Phe352Val) | dbSNP |
| 12 | g.5045201T= | CA2013431125 | KCNA5 | c.1054T= (p.Phe352=) | |
| 12 | g.5045202T>A | CA383465680 | KCNA5 | c.1055T>A (p.Phe352Tyr) | |
| 12 | g.5045202T>C | CA383465681 | KCNA5 | c.1055T>C (p.Phe352Ser) | COSMIC |
| 12 | g.5045202T>G | CA383465682 | KCNA5 | c.1055T>G (p.Phe352Cys) | |
| 12 | g.5045203C>A | CA383465683 | KCNA5 | c.1056C>A (p.Phe352Leu) | |
| 12 | g.5045203C>G | CA383465684 | KCNA5 | c.1056C>G (p.Phe352Leu) | |
| 12 | g.5045203C>T | CA478095619 | KCNA5 | c.1056C>T (p.Phe352=) | |
| 12 | g.5045204T>A | CA383465685 | KCNA5 | c.1057T>A (p.Ser353Thr) | |
| 12 | g.5045204T>C | CA383465686 | KCNA5 | c.1057T>C (p.Ser353Pro) | |
| 12 | g.5045204T>G | CA383465687 | KCNA5 | c.1057T>G (p.Ser353Ala) | |
| 12 | g.5045205C>A | CA383465688 | KCNA5 | c.1058C>A (p.Ser353Tyr) | |
| 12 | g.5045205C>G | CA383465689 | KCNA5 | c.1058C>G (p.Ser353Cys) | |
| 12 | g.5045205C>T | CA383465690 | KCNA5 | c.1058C>T (p.Ser353Phe) | gnomAD v4 |
| 12 | g.5045206C>A | CA478095621 | KCNA5 | c.1059C>A (p.Ser353=) | |
| 12 | g.5045206C>G | CA478095624 | KCNA5 | c.1059C>G (p.Ser353=) | gnomAD v4 COSMIC |
| 12 | g.5045206C>T | CA478095626 | KCNA5 | c.1059C>T (p.Ser353=) | |
| 12 | g.5045207C>A | CA478095629 | KCNA5 | c.1060C>A (p.Arg354=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.5045207C= | CA2013431126 | KCNA5 | c.1060C= (p.Arg354=) | |
| 12 | g.5045207C>G | CA383465691 | KCNA5 | c.1060C>G (p.Arg354Gly) | |
| 12 | g.5045207C>T | CA6399795 | KCNA5 | c.1060C>T (p.Arg354Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.5045208G>A | CA383465692 | KCNA5 | c.1061G>A (p.Arg354Gln) | dbSNP gnomAD v4 COSMIC |
| 12 | g.5045208G>C | CA383465693 | KCNA5 | c.1061G>C (p.Arg354Pro) | |
| 12 | g.5045208G= | CA2013431127 | KCNA5 | c.1061G= (p.Arg354=) | |
| 12 | g.5045208G>T | CA383465694 | KCNA5 | c.1061G>T (p.Arg354Leu) | |
| 12 | g.5045209G>A | CA478095632 | KCNA5 | c.1062G>A (p.Arg354=) | |
| 12 | g.5045209G>C | CA478095633 | KCNA5 | c.1062G>C (p.Arg354=) | |
| 12 | g.5045209G= | CA2013431128 | KCNA5 | c.1062G= (p.Arg354=) | |
| 12 | g.5045209G>T | CA6399796 | KCNA5 | c.1062G>T (p.Arg354=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045218_5045226dup | CA603482592 | KCNA5 | c.1071_1079dup (p.Ile359_Ile360insMetAsnIle) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045210A>C | CA383465695 | KCNA5 | c.1063A>C (p.Asn355His) | |
| 12 | g.5045210A>G | CA383465696 | KCNA5 | c.1063A>G (p.Asn355Asp) | gnomAD v4 |