| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.3770667G>A | CA403374058 | RAX2 | c.509C>T (p.Ala170Val) c.647C>T (p.Ala216Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770667G>C | CA403374061 | RAX2 | c.509C>G (p.Ala170Gly) c.647C>G (p.Ala216Gly) | |
| 19 | g.3770667G= | CA2319043600 | RAX2 | c.509C= (p.Ala170=) c.647C= (p.Ala216=) | |
| 19 | g.3770667G>T | CA403374063 | RAX2 | c.509C>A (p.Ala170Asp) c.647C>A (p.Ala216Asp) | gnomAD v4 |
| 19 | g.3770668C>A | CA403374066 | RAX2 | c.508G>T (p.Ala170Ser) c.646G>T (p.Ala216Ser) | gnomAD v4 |
| 19 | g.3770668C= | CA2319043601 | RAX2 | c.508G= (p.Ala170=) c.646G= (p.Ala216=) | |
| 19 | g.3770668C>G | CA403374067 | RAX2 | c.508G>C (p.Ala170Pro) c.646G>C (p.Ala216Pro) | |
| 19 | g.3770668C>T | CA403374068 | RAX2 | c.508G>A (p.Ala170Thr) c.646G>A (p.Ala216Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3770669C>A | CA504979233 | RAX2 | c.507G>T (p.Leu169=) c.645G>T (p.Leu215=) | gnomAD v4 |
| 19 | g.3770669C>G | CA504979236 | RAX2 | c.507G>C (p.Leu169=) c.645G>C (p.Leu215=) | gnomAD v4 |
| 19 | g.3770669C>T | CA504979234 | RAX2 | c.507G>A (p.Leu169=) c.645G>A (p.Leu215=) | gnomAD v4 |
| 19 | g.3770670A= | CA2319043602 | RAX2 | c.506T= (p.Leu169=) c.644T= (p.Leu215=) | |
| 19 | g.3770670A>C | CA403374070 | RAX2 | c.506T>G (p.Leu169Arg) c.644T>G (p.Leu215Arg) | ClinVar dbSNP |
| 19 | g.3770670A>G | CA403374071 | RAX2 | c.506T>C (p.Leu169Pro) c.644T>C (p.Leu215Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3770670A>T | CA403374073 | RAX2 | c.506T>A (p.Leu169Gln) c.644T>A (p.Leu215Gln) | |
| 19 | g.3770671G>A | CA504979239 | RAX2 | c.505C>T (p.Leu169=) c.643C>T (p.Leu215=) | gnomAD v4 |
| 19 | g.3770671G>C | CA403374076 | RAX2 | c.505C>G (p.Leu169Val) c.643C>G (p.Leu215Val) | |
| 19 | g.3770671G>T | CA403374077 | RAX2 | c.505C>A (p.Leu169Met) c.643C>A (p.Leu215Met) | gnomAD v4 |
| 19 | g.3770672C>A | CA504979240 | RAX2 | c.504G>T (p.Leu168=) c.642G>T (p.Leu214=) | gnomAD v4 |
| 19 | g.3770672C= | CA2319043603 | RAX2 | c.504G= (p.Leu168=) c.642G= (p.Leu214=) | |
| 19 | g.3770672C>G | CA504979241 | RAX2 | c.504G>C (p.Leu168=) c.642G>C (p.Leu214=) | |
| 19 | g.3770672C>T | CA504979242 | RAX2 | c.504G>A (p.Leu168=) c.642G>A (p.Leu214=) | dbSNP gnomAD v4 |
| 19 | g.3770673A>C | CA403374082 | RAX2 | c.503T>G (p.Leu168Arg) c.641T>G (p.Leu214Arg) | gnomAD v4 |
| 19 | g.3770673A>G | CA403374084 | RAX2 | c.503T>C (p.Leu168Pro) c.641T>C (p.Leu214Pro) | gnomAD v4 |
| 19 | g.3770673A>T | CA403374080 | RAX2 | c.503T>A (p.Leu168Gln) c.641T>A (p.Leu214Gln) | gnomAD v4 |
| 19 | g.3770674G>A | CA505157972 | RAX2 | c.502C>T (p.Leu168=) c.640C>T (p.Leu214=) | |
| 19 | g.3770674G>C | CA403374088 | RAX2 | c.502C>G (p.Leu168Val) c.640C>G (p.Leu214Val) | |
| 19 | g.3770674G>T | CA403374087 | RAX2 | c.502C>A (p.Leu168Met) c.640C>A (p.Leu214Met) | gnomAD v4 |
| 19 | g.3770675C>A | CA505157973 | RAX2 | c.501G>T (p.Arg167=) c.639G>T (p.Arg213=) | gnomAD v4 |
| 19 | g.3770675C= | CA2319043604 | RAX2 | c.501G= (p.Arg167=) c.639G= (p.Arg213=) | |
| 19 | g.3770675C>G | CA505157974 | RAX2 | c.501G>C (p.Arg167=) c.639G>C (p.Arg213=) | |
| 19 | g.3770675C>T | CA505157975 | RAX2 | c.501G>A (p.Arg167=) c.639G>A (p.Arg213=) | dbSNP gnomAD v4 |
| 19 | g.3770676C>A | CA304416607 | RAX2 | c.500G>T (p.Arg167Leu) c.638G>T (p.Arg213Leu) | dbSNP gnomAD v4 |
| 19 | g.3770676C= | CA2319043605 | RAX2 | c.500G= (p.Arg167=) c.638G= (p.Arg213=) | |
| 19 | g.3770676C>G | CA403374091 | RAX2 | c.500G>C (p.Arg167Pro) c.638G>C (p.Arg213Pro) | dbSNP |
| 19 | g.3770676C>T | CA9085029 | RAX2 | c.500G>A (p.Arg167Gln) c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770677G>A | CA304416611 | RAX2 | c.499C>T (p.Arg167Trp) c.637C>T (p.Arg213Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770677G>C | CA403374096 | RAX2 | c.499C>G (p.Arg167Gly) c.637C>G (p.Arg213Gly) | |
| 19 | g.3770677G= | CA2319043606 | RAX2 | c.499C= (p.Arg167=) c.637C= (p.Arg213=) | |
| 19 | g.3770677G>T | CA304416614 | RAX2 | c.499C>A (p.Arg167=) c.637C>A (p.Arg213=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3770678C>A | CA505157982 | RAX2 | c.498G>T (p.Leu166=) c.636G>T (p.Leu212=) | gnomAD v4 |
| 19 | g.3770678C>G | CA505157983 | RAX2 | c.498G>C (p.Leu166=) c.636G>C (p.Leu212=) | |
| 19 | g.3770678C>T | CA505157984 | RAX2 | c.498G>A (p.Leu166=) c.636G>A (p.Leu212=) | gnomAD v4 |
| 19 | g.3770679A>C | CA403374099 | RAX2 | c.497T>G (p.Leu166Arg) c.635T>G (p.Leu212Arg) | |
| 19 | g.3770679A>G | CA403374101 | RAX2 | c.497T>C (p.Leu166Pro) c.635T>C (p.Leu212Pro) | gnomAD v4 |
| 19 | g.3770679A>T | CA403374104 | RAX2 | c.497T>A (p.Leu166Gln) c.635T>A (p.Leu212Gln) | |
| 19 | g.3770680G>A | CA505157988 | RAX2 | c.496C>T (p.Leu166=) c.634C>T (p.Leu212=) | gnomAD v4 |
| 19 | g.3770680G>C | CA403374106 | RAX2 | c.496C>G (p.Leu166Val) c.634C>G (p.Leu212Val) | |
| 19 | g.3770680G>T | CA403374108 | RAX2 | c.496C>A (p.Leu166Met) c.634C>A (p.Leu212Met) | gnomAD v4 |
| 19 | g.3770682del | CA2584525860 | RAX2 | c.496del (p.Leu166CysfsTer?) c.634del (p.Leu212CysfsTer?) | gnomAD v4 |