| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.42688164G>A | CA352293270 | KLHL40 | c.1175G>A (p.Trp392Ter) | |
| 3 | g.42688164G>C | CA352293271 | KLHL40 | c.1175G>C (p.Trp392Ser) | |
| 3 | g.42688164G>T | CA352293272 | KLHL40 | c.1175G>T (p.Trp392Leu) | |
| 3 | g.42688165G>A | CA352293274 | KLHL40 | c.1176G>A (p.Trp392Ter) | |
| 3 | g.42688165G>C | CA352293275 | KLHL40 | c.1176G>C (p.Trp392Cys) | |
| 3 | g.42688165G>T | CA352293276 | KLHL40 | c.1176G>T (p.Trp392Cys) | gnomAD v4 |
| 3 | g.42688166C>A | CA352293278 | KLHL40 | c.1177C>A (p.Leu393Met) | |
| 3 | g.42688166C>G | CA352293280 | KLHL40 | c.1177C>G (p.Leu393Val) | |
| 3 | g.42688166C>T | CA433210549 | KLHL40 | c.1177C>T (p.Leu393=) | |
| 3 | g.42688167T>A | CA352293281 | KLHL40 | c.1178T>A (p.Leu393Gln) | |
| 3 | g.42688167T>C | CA352293282 | KLHL40 | c.1178T>C (p.Leu393Pro) | |
| 3 | g.42688167T>G | CA352293283 | KLHL40 | c.1178T>G (p.Leu393Arg) | |
| 3 | g.42688168G>A | CA433210570 | KLHL40 | c.1179G>A (p.Leu393=) | gnomAD v4 |
| 3 | g.42688168G>C | CA433210572 | KLHL40 | c.1179G>C (p.Leu393=) | |
| 3 | g.42688168G>T | CA433210560 | KLHL40 | c.1179G>T (p.Leu393=) | |
| 3 | g.42688169G>A | CA352293285 | KLHL40 | c.1180G>A (p.Gly394Arg) | |
| 3 | g.42688169G>C | CA352293286 | KLHL40 | c.1180G>C (p.Gly394Arg) | gnomAD v4 |
| 3 | g.42688169G>T | CA352293287 | KLHL40 | c.1180G>T (p.Gly394Trp) | |
| 3 | g.42688170G>A | CA2336848 | KLHL40 | c.1181G>A (p.Gly394Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.42688170G>C | CA352293288 | KLHL40 | c.1181G>C (p.Gly394Ala) | |
| 3 | g.42688170G= | CA1360457353 | KLHL40 | c.1181G= (p.Gly394=) | |
| 3 | g.42688170G>T | CA352293289 | KLHL40 | c.1181G>T (p.Gly394Val) | |
| 3 | g.42688171G>A | CA433210592 | KLHL40 | c.1182G>A (p.Gly394=) | |
| 3 | g.42688171G>C | CA433210590 | KLHL40 | c.1182G>C (p.Gly394=) | |
| 3 | g.42688171G= | CA1360457354 | KLHL40 | c.1182G= (p.Gly394=) | |
| 3 | g.42688171G>T | CA433210587 | KLHL40 | c.1182G>T (p.Gly394=) | dbSNP gnomAD v3 |
| 3 | g.42688172del | CA2665271215 | KLHL40 | c.1183del (p.Met395CysfsTer?) | gnomAD v4 |
| 3 | g.42688172A= | CA1360457355 | KLHL40 | c.1183A= (p.Met395=) | |
| 3 | g.42688172A>C | CA352293290 | KLHL40 | c.1183A>C (p.Met395Leu) | |
| 3 | g.42688172A>G | CA2336849 | KLHL40 | c.1183A>G (p.Met395Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688172A>T | CA352293292 | KLHL40 | c.1183A>T (p.Met395Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688173T>A | CA352293297 | KLHL40 | c.1184T>A (p.Met395Lys) | |
| 3 | g.42688173T>C | CA352293295 | KLHL40 | c.1184T>C (p.Met395Thr) | |
| 3 | g.42688173T>G | CA352293294 | KLHL40 | c.1184T>G (p.Met395Arg) | |
| 3 | g.42688174G>A | CA352293299 | KLHL40 | c.1185G>A (p.Met395Ile) | |
| 3 | g.42688174G>C | CA352293301 | KLHL40 | c.1185G>C (p.Met395Ile) | |
| 3 | g.42688174G>T | CA352293300 | KLHL40 | c.1185G>T (p.Met395Ile) | |
| 3 | g.42688175C>A | CA352293303 | KLHL40 | c.1186C>A (p.Pro396Thr) | gnomAD v4 |
| 3 | g.42688175C= | CA1360457356 | KLHL40 | c.1186C= (p.Pro396=) | |
| 3 | g.42688175C>G | CA2336850 | KLHL40 | c.1186C>G (p.Pro396Ala) | dbSNP ExAC |
| 3 | g.42688175C>T | CA352293305 | KLHL40 | c.1186C>T (p.Pro396Ser) | gnomAD v4 |
| 3 | g.42688176C>A | CA352293307 | KLHL40 | c.1187C>A (p.Pro396Gln) | |
| 3 | g.42688176C>G | CA352293308 | KLHL40 | c.1187C>G (p.Pro396Arg) | |
| 3 | g.42688176C>T | CA352293309 | KLHL40 | c.1187C>T (p.Pro396Leu) | |
| 3 | g.42688177A= | CA1360457357 | KLHL40 | c.1188A= (p.Pro396=) | |
| 3 | g.42688177A>C | CA433210622 | KLHL40 | c.1188A>C (p.Pro396=) | dbSNP |
| 3 | g.42688177A>G | CA433210624 | KLHL40 | c.1188A>G (p.Pro396=) | |
| 3 | g.42688177A>T | CA433210625 | KLHL40 | c.1188A>T (p.Pro396=) | |
| 3 | g.42688178C>A | CA352293310 | KLHL40 | c.1189C>A (p.Pro397Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688178C= | CA1360457358 | KLHL40 | c.1189C= (p.Pro397=) |