Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80110956del | CA16041894 | GAA | c.1567del (p.Ser523ProfsTer?) | ClinVar dbSNP |
17 | g.80110956T>A | CA401367212 | GAA | c.1567T>A (p.Ser523Thr) | |
17 | g.80110956T>C | CA401367213 | GAA | c.1567T>C (p.Ser523Pro) | gnomAD v4 |
17 | g.80110956T>G | CA401367214 | GAA | c.1567T>G (p.Ser523Ala) | |
17 | g.80110957C>A | CA401367215 | GAA | c.1568C>A (p.Ser523Tyr) | |
17 | g.80110957C= | CA2277814190 | GAA | c.1568C= (p.Ser523=) | |
17 | g.80110957C>G | CA401367217 | GAA | c.1568C>G (p.Ser523Cys) | ClinVar dbSNP |
17 | g.80110957C>T | CA401367216 | GAA | c.1568C>T (p.Ser523Phe) | gnomAD v4 |
17 | g.80110958C>A | CA502178692 | GAA | c.1569C>A (p.Ser523=) | |
17 | g.80110958C>G | CA502178693 | GAA | c.1569C>G (p.Ser523=) | |
17 | g.80110958C>T | CA502178694 | GAA | c.1569C>T (p.Ser523=) | |
17 | g.80110959A>C | CA401367218 | GAA | c.1570A>C (p.Asn524His) | |
17 | g.80110959A>G | CA401367219 | GAA | c.1570A>G (p.Asn524Asp) | gnomAD v4 |
17 | g.80110959A>T | CA401367220 | GAA | c.1570A>T (p.Asn524Tyr) | |
17 | g.80110960A= | CA2277814191 | GAA | c.1571A= (p.Asn524=) | |
17 | g.80110960A>C | CA401367221 | GAA | c.1571A>C (p.Asn524Thr) | ClinVar |
17 | g.80110960A>G | CA401367222 | GAA | c.1571A>G (p.Asn524Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110960A>T | CA401367223 | GAA | c.1571A>T (p.Asn524Ile) | |
17 | g.80110961C>A | CA401367224 | GAA | c.1572C>A (p.Asn524Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80110961C= | CA2277814192 | GAA | c.1572C= (p.Asn524=) | |
17 | g.80110961C>G | CA401367225 | GAA | c.1572C>G (p.Asn524Lys) | ClinVar dbSNP |
17 | g.80110961C>T | CA502178695 | GAA | c.1572C>T (p.Asn524=) | ClinVar dbSNP |
17 | g.80110962T>A | CA401367226 | GAA | c.1573T>A (p.Phe525Ile) | dbSNP |
17 | g.80110962T>C | CA401367227 | GAA | c.1573T>C (p.Phe525Leu) | |
17 | g.80110962T>G | CA401367228 | GAA | c.1573T>G (p.Phe525Val) | |
17 | g.80110962T= | CA2277814193 | GAA | c.1573T= (p.Phe525=) | |
17 | g.80110963T>A | CA401367231 | GAA | c.1574T>A (p.Phe525Tyr) | |
17 | g.80110963T>C | CA401367229 | GAA | c.1574T>C (p.Phe525Ser) | |
17 | g.80110963T>G | CA401367230 | GAA | c.1574T>G (p.Phe525Cys) | |
17 | g.80110964C>A | CA401367232 | GAA | c.1575C>A (p.Phe525Leu) | |
17 | g.80110964C>G | CA401367233 | GAA | c.1575C>G (p.Phe525Leu) | |
17 | g.80110964C>T | CA502178696 | GAA | c.1575C>T (p.Phe525=) | COSMIC |
17 | g.80110964dup | CA2573154976 | GAA | c.1575dup (p.Ile526HisfsTer5) | ClinVar dbSNP |
17 | g.80110964_80110965del | CA2580095759 | GAA | c.1575_1576del (p.Ile526GlnfsTer4) | ClinVar |
17 | g.80110965A= | CA2277814194 | GAA | c.1576A= (p.Ile526=) | |
17 | g.80110965A>C | CA401367234 | GAA | c.1576A>C (p.Ile526Leu) | |
17 | g.80110965A>G | CA401367235 | GAA | c.1576A>G (p.Ile526Val) | ClinVar dbSNP |
17 | g.80110965A>T | CA401367236 | GAA | c.1576A>T (p.Ile526Phe) | |
17 | g.80110966T>A | CA401367239 | GAA | c.1577T>A (p.Ile526Asn) | |
17 | g.80110966T>C | CA401367238 | GAA | c.1577T>C (p.Ile526Thr) | |
17 | g.80110966T>G | CA401367237 | GAA | c.1577T>G (p.Ile526Ser) | |
17 | g.80110967C>A | CA502178697 | GAA | c.1578C>A (p.Ile526=) | |
17 | g.80110967C>G | CA401367240 | GAA | c.1578C>G (p.Ile526Met) | |
17 | g.80110967C>T | CA502178698 | GAA | c.1578C>T (p.Ile526=) | |
17 | g.80110967_80110968delinsCA | CA2277814196 | GAA | c.1578_1579delinsCA (p.Ile526=) | |
17 | g.80110967_80110969delinsCAG | CA2277814195 | GAA | c.1578_1580delinsCAG (p.Ile526=) | |
17 | g.80110968del | CA1139665924 | GAA | c.1579del (p.Arg527GlyfsTer?) | ClinVar dbSNP |
17 | g.80110968A>C | CA502178699 | GAA | c.1579A>C (p.Arg527=) |