| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5044290A= | CA2013430578 | KCNA5 | c.143A= (p.Glu48=) | |
| 12 | g.5044290A>C | CA383461982 | KCNA5 | c.143A>C (p.Glu48Ala) | |
| 12 | g.5044290A>G | CA151380 | KCNA5 | c.143A>G (p.Glu48Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5044290A>T | CA383461983 | KCNA5 | c.143A>T (p.Glu48Val) | |
| 12 | g.5044291G>A | CA478094916 | KCNA5 | c.144G>A (p.Glu48=) | gnomAD v4 |
| 12 | g.5044291G>C | CA6399546 | KCNA5 | c.144G>C (p.Glu48Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5044291G= | CA2013430579 | KCNA5 | c.144G= (p.Glu48=) | |
| 12 | g.5044291G>T | CA383461984 | KCNA5 | c.144G>T (p.Glu48Asp) | gnomAD v4 |
| 12 | g.5044292C>A | CA383461985 | KCNA5 | c.145C>A (p.Pro49Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5044292C= | CA2013430580 | KCNA5 | c.145C= (p.Pro49=) | |
| 12 | g.5044292C>G | CA383461987 | KCNA5 | c.145C>G (p.Pro49Ala) | |
| 12 | g.5044292C>T | CA383461986 | KCNA5 | c.145C>T (p.Pro49Ser) | dbSNP gnomAD v4 |
| 12 | g.5044293C>A | CA383461988 | KCNA5 | c.146C>A (p.Pro49Gln) | gnomAD v4 |
| 12 | g.5044293C= | CA2013430581 | KCNA5 | c.146C= (p.Pro49=) | |
| 12 | g.5044293C>G | CA383461990 | KCNA5 | c.146C>G (p.Pro49Arg) | dbSNP |
| 12 | g.5044293C>T | CA383461989 | KCNA5 | c.146C>T (p.Pro49Leu) | gnomAD v4 |
| 12 | g.5044294G>A | CA478094918 | KCNA5 | c.147G>A (p.Pro49=) | gnomAD v4 |
| 12 | g.5044294G>C | CA6399547 | KCNA5 | c.147G>C (p.Pro49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5044294G= | CA2013430582 | KCNA5 | c.147G= (p.Pro49=) | |
| 12 | g.5044294G>T | CA478094920 | KCNA5 | c.147G>T (p.Pro49=) | dbSNP gnomAD v4 |
| 12 | g.5044295G>A | CA383461991 | KCNA5 | c.148G>A (p.Ala50Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5044295G>C | CA6399548 | KCNA5 | c.148G>C (p.Ala50Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5044295G= | CA2013430583 | KCNA5 | c.148G= (p.Ala50=) | |
| 12 | g.5044295G>T | CA383461992 | KCNA5 | c.148G>T (p.Ala50Ser) | gnomAD v4 |
| 12 | g.5044296C>A | CA383461993 | KCNA5 | c.149C>A (p.Ala50Glu) | gnomAD v4 |
| 12 | g.5044296C= | CA2013430584 | KCNA5 | c.149C= (p.Ala50=) | |
| 12 | g.5044296C>G | CA383461994 | KCNA5 | c.149C>G (p.Ala50Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5044296C>T | CA383461995 | KCNA5 | c.149C>T (p.Ala50Val) | gnomAD v4 |
| 12 | g.5044297G>A | CA478094925 | KCNA5 | c.150G>A (p.Ala50=) | dbSNP gnomAD v4 |
| 12 | g.5044297G>C | CA478094923 | KCNA5 | c.150G>C (p.Ala50=) | dbSNP gnomAD v4 |
| 12 | g.5044297G= | CA2013430585 | KCNA5 | c.150G= (p.Ala50=) | |
| 12 | g.5044297G>T | CA6399549 | KCNA5 | c.150G>T (p.Ala50=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5044298C>A | CA383461996 | KCNA5 | c.151C>A (p.Pro51Thr) | gnomAD v4 |
| 12 | g.5044298C= | CA2013430586 | KCNA5 | c.151C= (p.Pro51=) | |
| 12 | g.5044298C>G | CA383461997 | KCNA5 | c.151C>G (p.Pro51Ala) | |
| 12 | g.5044298C>T | CA383461998 | KCNA5 | c.151C>T (p.Pro51Ser) | dbSNP gnomAD v2 |
| 12 | g.5044299C>A | CA383461999 | KCNA5 | c.152C>A (p.Pro51Gln) | gnomAD v4 |
| 12 | g.5044299C= | CA2013430587 | KCNA5 | c.152C= (p.Pro51=) | |
| 12 | g.5044299C>G | CA383462000 | KCNA5 | c.152C>G (p.Pro51Arg) | |
| 12 | g.5044299C>T | CA6399550 | KCNA5 | c.152C>T (p.Pro51Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5044299_5044300delinsCA | CA2013430588 | KCNA5 | c.152_153delinsCA (p.Pro51=) | |
| 12 | g.5044300A>C | CA478094931 | KCNA5 | c.153A>C (p.Pro51=) | |
| 12 | g.5044300A>G | CA478094929 | KCNA5 | c.153A>G (p.Pro51=) | gnomAD v4 |
| 12 | g.5044300A>T | CA478094930 | KCNA5 | c.153A>T (p.Pro51=) | |
| 12 | g.5044302del | CA231866829 | KCNA5 | c.155del (p.Lys52ArgfsTer?) | dbSNP |
| 12 | g.5044301A= | CA2013430589 | KCNA5 | c.154A= (p.Lys52=) | |
| 12 | g.5044301A>C | CA383462001 | KCNA5 | c.154A>C (p.Lys52Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5044301A>G | CA383462002 | KCNA5 | c.154A>G (p.Lys52Glu) | |
| 12 | g.5044301A>T | CA383462003 | KCNA5 | c.154A>T (p.Lys52Ter) | |
| 12 | g.5044302A>C | CA383462004 | KCNA5 | c.155A>C (p.Lys52Thr) |