| 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.80110946_80110950dup | CA2499225013 | GAA | c.1557_1561dup (p.Glu521GlyfsTer?) | ClinVar dbSNP |
| 17 | g.80110950del | CA2697555224 | GAA | c.1561del (p.Glu521SerfsTer?) | ClinVar |
| 17 | g.80110950G>A | CA116593 | GAA | c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80110950G>C | CA401367201 | GAA | c.1561G>C (p.Glu521Gln) | ClinVar |
| 17 | g.80110950G= | CA2277814186 | GAA | c.1561G= (p.Glu521=) | |
| 17 | g.80110950G>T | CA401367202 | GAA | c.1561G>T (p.Glu521Ter) | |
| 17 | g.80110951A= | CA2277814187 | GAA | c.1562A= (p.Glu521=) | |
| 17 | g.80110951A>C | CA401367203 | GAA | c.1562A>C (p.Glu521Ala) | |
| 17 | g.80110951A>G | CA401367204 | GAA | c.1562A>G (p.Glu521Gly) | |
| 17 | g.80110951A>T | CA401367205 | GAA | c.1562A>T (p.Glu521Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.80110952G>A | CA502178688 | GAA | c.1563G>A (p.Glu521=) | |
| 17 | g.80110952G>C | CA401367206 | GAA | c.1563G>C (p.Glu521Asp) | |
| 17 | g.80110952G>T | CA401367207 | GAA | c.1563G>T (p.Glu521Asp) | |
| 17 | g.80110952_80110953insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT | CA986707383 | GAA | c.1563_1564insAAGCGCTGCTGGTAGGTGACTCTGCCCAGAGTGAGGAGGGTGTGGTAGT (p.Pro522LysfsTer5) | |
| 17 | g.80110953C>A | CA401367208 | GAA | c.1564C>A (p.Pro522Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80110953C= | CA2277814188 | GAA | c.1564C= (p.Pro522=) | |
| 17 | g.80110953C>G | CA16041893 | GAA | c.1564C>G (p.Pro522Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.80110953C>T | CA294895008 | GAA | c.1564C>T (p.Pro522Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.80110954C>A | CA401367209 | GAA | c.1565C>A (p.Pro522His) | |
| 17 | g.80110954C>G | CA401367211 | GAA | c.1565C>G (p.Pro522Arg) | |
| 17 | g.80110954C>T | CA401367210 | GAA | c.1565C>T (p.Pro522Leu) | ClinVar dbSNP |
| 17 | g.80110954_80110955delinsCT | CA2277814189 | GAA | c.1565_1566delinsCT (p.Pro522=) | |
| 17 | g.80110955T>A | CA502178691 | GAA | c.1566T>A (p.Pro522=) | |
| 17 | g.80110955T>C | CA502178690 | GAA | c.1566T>C (p.Pro522=) | |
| 17 | g.80110955T>G | CA502178689 | GAA | c.1566T>G (p.Pro522=) | |
| 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 |