| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129058767_129062425del | CA2573052078 | ClinVar | ||
| 3 | g.129060779_129062406del | CA2573052079 | GP9 | c.-210_*133del c.-84_*133del | ClinVar |
| 3 | g.129061747_129061750dup | CA2580616532 | GP9 | c.8_11dup (p.Trp4CysfsTer?) | ClinVar |
| 3 | g.129061747_129061750del | CA2577892329 | GP9 | c.8_11del (p.Ala3GlyfsTer?) | |
| 3 | g.129061749T>A | CA354446244 | GP9 | c.10T>A (p.Trp4Arg) | |
| 3 | g.129061749T>C | CA354446247 | GP9 | c.10T>C (p.Trp4Arg) | gnomAD v4 |
| 3 | g.129061749T>G | CA354446249 | GP9 | c.10T>G (p.Trp4Gly) | |
| 3 | g.129061750G>A | CA354446253 | GP9 | c.11G>A (p.Trp4Ter) | |
| 3 | g.129061750G>C | CA354446255 | GP9 | c.11G>C (p.Trp4Ser) | |
| 3 | g.129061750G>T | CA354446258 | GP9 | c.11G>T (p.Trp4Leu) | |
| 3 | g.129061753del | CA2667574784 | GP9 | c.14del (p.Gly5GlufsTer?) | gnomAD v4 |
| 3 | g.129061751G>A | CA354446262 | GP9 | c.12G>A (p.Trp4Ter) | |
| 3 | g.129061751G>C | CA354446272 | GP9 | c.12G>C (p.Trp4Cys) | |
| 3 | g.129061751G>T | CA354446268 | GP9 | c.12G>T (p.Trp4Cys) | |
| 3 | g.129061752G>A | CA354446276 | GP9 | c.13G>A (p.Gly5Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129061752G>C | CA354446285 | GP9 | c.13G>C (p.Gly5Arg) | dbSNP |
| 3 | g.129061752G= | CA1401004635 | GP9 | c.13G= (p.Gly5=) | |
| 3 | g.129061752G>T | CA354446278 | GP9 | c.13G>T (p.Gly5Ter) | |
| 3 | g.129061753G>A | CA354446287 | GP9 | c.14G>A (p.Gly5Glu) | gnomAD v4 |
| 3 | g.129061753G>C | CA354446290 | GP9 | c.14G>C (p.Gly5Ala) | |
| 3 | g.129061753G>T | CA354446291 | GP9 | c.14G>T (p.Gly5Val) | |
| 3 | g.129061754A>C | CA435591476 | GP9 | c.15A>C (p.Gly5=) | |
| 3 | g.129061754A>G | CA435591479 | GP9 | c.15A>G (p.Gly5=) | |
| 3 | g.129061754A>T | CA435591478 | GP9 | c.15A>T (p.Gly5=) | |
| 3 | g.129061755G>A | CA354446296 | GP9 | c.16G>A (p.Ala6Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061755G>C | CA354446299 | GP9 | c.16G>C (p.Ala6Pro) | dbSNP gnomAD v4 |
| 3 | g.129061755G= | CA1401004636 | GP9 | c.16G= (p.Ala6=) | |
| 3 | g.129061755G>T | CA354446305 | GP9 | c.16G>T (p.Ala6Ser) | gnomAD v4 |
| 3 | g.129061756C>A | CA354446309 | GP9 | c.17C>A (p.Ala6Asp) | gnomAD v4 |
| 3 | g.129061756C= | CA1401004637 | GP9 | c.17C= (p.Ala6=) | |
| 3 | g.129061756C>G | CA354446312 | GP9 | c.17C>G (p.Ala6Gly) | |
| 3 | g.129061756C>T | CA2602622 | GP9 | c.17C>T (p.Ala6Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129061757C>A | CA435591488 | GP9 | c.18C>A (p.Ala6=) | |
| 3 | g.129061757C= | CA1401004638 | GP9 | c.18C= (p.Ala6=) | |
| 3 | g.129061757C>G | CA435591489 | GP9 | c.18C>G (p.Ala6=) | |
| 3 | g.129061757C>T | CA2602623 | GP9 | c.18C>T (p.Ala6=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129061758C>A | CA354446320 | GP9 | c.19C>A (p.Leu7Met) | |
| 3 | g.129061758C>G | CA354446323 | GP9 | c.19C>G (p.Leu7Val) | |
| 3 | g.129061758C>T | CA435591493 | GP9 | c.19C>T (p.Leu7=) | |
| 3 | g.129061759T>A | CA354446333 | GP9 | c.20T>A (p.Leu7Gln) | |
| 3 | g.129061759T>C | CA123183 | GP9 | c.20T>C (p.Leu7Pro) | ClinVar dbSNP |
| 3 | g.129061759T>G | CA354446330 | GP9 | c.20T>G (p.Leu7Arg) | |
| 3 | g.129061759T= | CA1401004639 | GP9 | c.20T= (p.Leu7=) | |
| 3 | g.129061760G>A | CA435591501 | GP9 | c.21G>A (p.Leu7=) | |
| 3 | g.129061760G>C | CA435591496 | GP9 | c.21G>C (p.Leu7=) | |
| 3 | g.129061760G>T | CA435591497 | GP9 | c.21G>T (p.Leu7=) | |
| 3 | g.129061761T>A | CA354446341 | GP9 | c.22T>A (p.Phe8Ile) | |
| 3 | g.129061761T>C | CA354446344 | GP9 | c.22T>C (p.Phe8Leu) | |
| 3 | g.129061761T>G | CA354446351 | GP9 | c.22T>G (p.Phe8Val) | |
| 3 | g.129061762T>A | CA354446360 | GP9 | c.23T>A (p.Phe8Tyr) |