| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80105792C>A | CA8814936 | GAA | c.590C>A (p.Thr197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80105792C= | CA2277811238 | GAA | c.590C= (p.Thr197=) | dbSNP |
| 17 | g.80105792C>G | CA401362205 | GAA | c.590C>G (p.Thr197Ser) | |
| 17 | g.80105792C>T | CA401362206 | GAA | c.590C>T (p.Thr197Ile) | ClinVar dbSNP |
| 17 | g.80105795dup | CA2965194681 | GAA | c.593dup (p.His199AlafsTer?) | |
| 17 | g.80105795del | CA2640277686 | GAA | c.593del (p.Pro198ArgfsTer23) c.593del (p.Pro198ArgfsTer?) | gnomAD v4 |
| 17 | g.80105794_80105795del | CA2965194717 | GAA | c.592_593del (p.Pro198AlafsTer?) | |
| 17 | g.80105793C>A | CA502177543 | GAA | c.591C>A (p.Thr197=) | |
| 17 | g.80105793C= | CA3227603085 | GAA | c.591C= (p.Thr197=) | dbSNP |
| 17 | g.80105793C>G | CA502177545 | GAA | c.591C>G (p.Thr197=) | |
| 17 | g.80105793C>T | CA502177547 | GAA | c.591C>T (p.Thr197=) | dbSNP gnomAD v4 |
| 17 | g.80105794C>A | CA294888175 | GAA | c.592C>A (p.Pro198Thr) | dbSNP |
| 17 | g.80105794C= | CA2277811239 | GAA | c.592C= (p.Pro198=) | dbSNP |
| 17 | g.80105794C>G | CA401362209 | GAA | c.592C>G (p.Pro198Ala) | dbSNP gnomAD v4 |
| 17 | g.80105794C>T | CA401362210 | GAA | c.592C>T (p.Pro198Ser) | ClinVar |
| 17 | g.80105795C>A | CA401362212 | GAA | c.593C>A (p.Pro198Gln) | ClinVar dbSNP |
| 17 | g.80105795C= | CA2277811240 | GAA | c.593C= (p.Pro198=) | dbSNP |
| 17 | g.80105795C>G | CA401362214 | GAA | c.593C>G (p.Pro198Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.80105795C>T | CA8814937 | GAA | c.593C>T (p.Pro198Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105796del | CA2965194761 | GAA | c.594del (p.His199MetfsTer22) c.594del (p.His199MetfsTer?) | |
| 17 | g.80105796G>A | CA502177552 | GAA | c.594G>A (p.Pro198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105796G>C | CA502177553 | GAA | c.594G>C (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105796G= | CA2277811241 | GAA | c.594G= (p.Pro198=) | dbSNP |
| 17 | g.80105796G>T | CA502177555 | GAA | c.594G>T (p.Pro198=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105797C>A | CA401362217 | GAA | c.595C>A (p.His199Asn) | |
| 17 | g.80105797C= | CA3227603104 | GAA | c.595C= (p.His199=) | dbSNP |
| 17 | g.80105797C>G | CA401362219 | GAA | c.595C>G (p.His199Asp) | |
| 17 | g.80105797C>T | CA401362222 | GAA | c.595C>T (p.His199Tyr) | dbSNP gnomAD v4 COSMIC |
| 17 | g.80105797_80105798del | CA2965194790 | GAA | c.595_596del (p.His199CysfsTer?) | |
| 17 | g.80105797_80105798delinsTG | CA2580095300 | GAA | c.595_596delinsTG (p.His199Cys) | ClinVar |
| 17 | g.80105797_80105798insG | CA2965194801 | GAA | c.595_596insG (p.His199ArgfsTer?) | |
| 17 | g.80105798A= | CA2277811242 | GAA | c.596A= (p.His199=) | dbSNP |
| 17 | g.80105798A>C | CA401362227 | GAA | c.596A>C (p.His199Pro) | |
| 17 | g.80105798A>G | CA145785 | GAA | c.596A>G (p.His199Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105798A>T | CA401362225 | GAA | c.596A>T (p.His199Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80105798_80105802delinsGTGT | CA2580095301 | GAA | c.596_600delinsGTGT (p.His199ArgfsTer22) c.596_600delinsGTGT (p.His199ArgfsTer?) | ClinVar dbSNP |
| 17 | g.80105799T>A | CA401362231 | GAA | c.597T>A (p.His199Gln) | |
| 17 | g.80105799T>C | CA502177561 | GAA | c.597T>C (p.His199=) | |
| 17 | g.80105799T>G | CA401362232 | GAA | c.597T>G (p.His199Gln) | |
| 17 | g.80105800G>A | CA401362233 | GAA | c.598G>A (p.Val200Ile) | |
| 17 | g.80105800G>C | CA401362234 | GAA | c.598G>C (p.Val200Leu) | |
| 17 | g.80105800G= | CA2277811243 | GAA | c.598G= (p.Val200=) | dbSNP |
| 17 | g.80105800G>T | CA401362236 | GAA | c.598G>T (p.Val200Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80105800dup | CA2965194822 | GAA | c.598dup (p.Val200GlyfsTer?) | |
| 17 | g.80105801T>A | CA8814938 | GAA | c.599T>A (p.Val200Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.80105801T>C | CA401362241 | GAA | c.599T>C (p.Val200Ala) | |
| 17 | g.80105801T>G | CA401362243 | GAA | c.599T>G (p.Val200Gly) | |
| 17 | g.80105801T= | CA2277811244 | GAA | c.599T= (p.Val200=) | dbSNP |
| 17 | g.80105802C>A | CA502177568 | GAA | c.600C>A (p.Val200=) | |
| 17 | g.80105802C= | CA2277811245 | GAA | c.600C= (p.Val200=) | dbSNP |