| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del | ClinVar |
| 17 | g.80104655C>A | CA8814778 | GAA | c.69C>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80104655C= | CA2277810570 | GAA | c.69C= (p.Thr23=) | |
| 17 | g.80104655C>G | CA502177050 | GAA | c.69C>G (p.Thr23=) | gnomAD v4 |
| 17 | g.80104655C>T | CA8814779 | GAA | c.69C>T (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104656G>A | CA8814780 | GAA | c.70G>A (p.Ala24Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104656G>C | CA401360144 | GAA | c.70G>C (p.Ala24Pro) | |
| 17 | g.80104656G= | CA2277810571 | GAA | c.70G= (p.Ala24=) | |
| 17 | g.80104656G>T | CA401360146 | GAA | c.70G>T (p.Ala24Ser) | |
| 17 | g.80104657C>A | CA401360149 | GAA | c.71C>A (p.Ala24Asp) | |
| 17 | g.80104657C= | CA2277810572 | GAA | c.71C= (p.Ala24=) | |
| 17 | g.80104657C>G | CA401360152 | GAA | c.71C>G (p.Ala24Gly) | |
| 17 | g.80104657C>T | CA294886529 | GAA | c.71C>T (p.Ala24Val) | dbSNP |
| 17 | g.80104658T>A | CA502177056 | GAA | c.72T>A (p.Ala24=) | |
| 17 | g.80104658T>C | CA8814781 | GAA | c.72T>C (p.Ala24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80104658T>G | CA502177059 | GAA | c.72T>G (p.Ala24=) | |
| 17 | g.80104658T= | CA2277810573 | GAA | c.72T= (p.Ala24=) | |
| 17 | g.80104659G>A | CA401360158 | GAA | c.73G>A (p.Ala25Thr) | gnomAD v4 |
| 17 | g.80104659G>C | CA401360161 | GAA | c.73G>C (p.Ala25Pro) | |
| 17 | g.80104659G>T | CA401360163 | GAA | c.73G>T (p.Ala25Ser) | gnomAD v4 |
| 17 | g.80104663_80104673del | CA2640274215 | GAA | c.77_87del (p.Leu26HisfsTer5) | gnomAD v4 |
| 17 | g.80104660C>A | CA401360170 | GAA | c.74C>A (p.Ala25Glu) | |
| 17 | g.80104660C= | CA2277810574 | GAA | c.74C= (p.Ala25=) | |
| 17 | g.80104660C>G | CA401360166 | GAA | c.74C>G (p.Ala25Gly) | |
| 17 | g.80104660C>T | CA8814782 | GAA | c.74C>T (p.Ala25Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80104661A= | CA2277810575 | GAA | c.75A= (p.Ala25=) | |
| 17 | g.80104661A>C | CA502177064 | GAA | c.75A>C (p.Ala25=) | ClinVar dbSNP |
| 17 | g.80104661A>G | CA502177066 | GAA | c.75A>G (p.Ala25=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80104661A>T | CA502177068 | GAA | c.75A>T (p.Ala25=) | ClinVar |
| 17 | g.80104662C>A | CA401360172 | GAA | c.76C>A (p.Leu26Ile) | |
| 17 | g.80104662C= | CA2277810576 | GAA | c.76C= (p.Leu26=) | |
| 17 | g.80104662C>G | CA401360174 | GAA | c.76C>G (p.Leu26Val) | |
| 17 | g.80104662C>T | CA8814783 | GAA | c.76C>T (p.Leu26Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104663T>A | CA401360178 | GAA | c.77T>A (p.Leu26His) | |
| 17 | g.80104663T>C | CA401360180 | GAA | c.77T>C (p.Leu26Pro) | |
| 17 | g.80104663T>G | CA401360183 | GAA | c.77T>G (p.Leu26Arg) | ClinVar dbSNP |
| 17 | g.80104663T= | CA2277810577 | GAA | c.77T= (p.Leu26=) | |
| 17 | g.80104664C>A | CA502177073 | GAA | c.78C>A (p.Leu26=) | |
| 17 | g.80104664C>G | CA502177074 | GAA | c.78C>G (p.Leu26=) | |
| 17 | g.80104664C>T | CA502177072 | GAA | c.78C>T (p.Leu26=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80104665C>A | CA401360186 | GAA | c.79C>A (p.Leu27Met) | |
| 17 | g.80104665C= | CA2277810578 | GAA | c.79C= (p.Leu27=) | |
| 17 | g.80104665C>G | CA8814784 | GAA | c.79C>G (p.Leu27Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104665C>T | CA502177075 | GAA | c.79C>T (p.Leu27=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80104666T>A | CA401360189 | GAA | c.80T>A (p.Leu27Gln) | |
| 17 | g.80104666T>C | CA401360190 | GAA | c.80T>C (p.Leu27Pro) | |
| 17 | g.80104666T>G | CA401360192 | GAA | c.80T>G (p.Leu27Arg) | |
| 17 | g.80104667G>A | CA502177076 | GAA | c.81G>A (p.Leu27=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80104667G>C | CA502177077 | GAA | c.81G>C (p.Leu27=) | |
| 17 | g.80104667G= | CA2277810579 | GAA | c.81G= (p.Leu27=) |