| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688178C= | CA1360457358 | KLHL40 | c.1189C= (p.Pro397=) | |
| 3 | g.42688178C>G | CA2336851 | KLHL40 | c.1189C>G (p.Pro397Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688178C>T | CA352293312 | KLHL40 | c.1189C>T (p.Pro397Ser) | |
| 3 | g.42688179C>A | CA352293314 | KLHL40 | c.1190C>A (p.Pro397Gln) | |
| 3 | g.42688179C= | CA1360457359 | KLHL40 | c.1190C= (p.Pro397=) | |
| 3 | g.42688179C>G | CA352293315 | KLHL40 | c.1190C>G (p.Pro397Arg) | |
| 3 | g.42688179C>T | CA2336852 | KLHL40 | c.1190C>T (p.Pro397Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688180G>A | CA2336853 | KLHL40 | c.1191G>A (p.Pro397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688180G>C | CA433210643 | KLHL40 | c.1191G>C (p.Pro397=) | |
| 3 | g.42688180G= | CA1360457360 | KLHL40 | c.1191G= (p.Pro397=) | |
| 3 | g.42688180G>T | CA433210647 | KLHL40 | c.1191G>T (p.Pro397=) | |
| 3 | g.42688181C>A | CA352293318 | KLHL40 | c.1192C>A (p.Leu398Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.42688181C= | CA1360457361 | KLHL40 | c.1192C= (p.Leu398=) | |
| 3 | g.42688181C>G | CA352293320 | KLHL40 | c.1192C>G (p.Leu398Val) | |
| 3 | g.42688181C>T | CA433210654 | KLHL40 | c.1192C>T (p.Leu398=) | gnomAD v4 |
| 3 | g.42688182T>A | CA352293322 | KLHL40 | c.1193T>A (p.Leu398Gln) | |
| 3 | g.42688182T>C | CA352293323 | KLHL40 | c.1193T>C (p.Leu398Pro) | |
| 3 | g.42688182T>G | CA352293326 | KLHL40 | c.1193T>G (p.Leu398Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688182T= | CA1360457362 | KLHL40 | c.1193T= (p.Leu398=) | |
| 3 | g.42688183G>A | CA433210664 | KLHL40 | c.1194G>A (p.Leu398=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688183G>C | CA433210666 | KLHL40 | c.1194G>C (p.Leu398=) | |
| 3 | g.42688183G= | CA1360457363 | KLHL40 | c.1194G= (p.Leu398=) | |
| 3 | g.42688183G>T | CA433210670 | KLHL40 | c.1194G>T (p.Leu398=) | |
| 3 | g.42688184C>A | CA352293328 | KLHL40 | c.1195C>A (p.Pro399Thr) | |
| 3 | g.42688184C>G | CA352293329 | KLHL40 | c.1195C>G (p.Pro399Ala) | |
| 3 | g.42688184C>T | CA352293330 | KLHL40 | c.1195C>T (p.Pro399Ser) | gnomAD v4 |
| 3 | g.42688185C>A | CA352293332 | KLHL40 | c.1196C>A (p.Pro399His) | |
| 3 | g.42688185C= | CA1360457364 | KLHL40 | c.1196C= (p.Pro399=) | |
| 3 | g.42688185C>G | CA352293334 | KLHL40 | c.1196C>G (p.Pro399Arg) | |
| 3 | g.42688185C>T | CA2336854 | KLHL40 | c.1196C>T (p.Pro399Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688186C>A | CA433210680 | KLHL40 | c.1197C>A (p.Pro399=) | |
| 3 | g.42688186C= | CA1360457365 | KLHL40 | c.1197C= (p.Pro399=) | |
| 3 | g.42688186C>G | CA433210691 | KLHL40 | c.1197C>G (p.Pro399=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688186C>T | CA2336855 | KLHL40 | c.1197C>T (p.Pro399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688187T>A | CA352293337 | KLHL40 | c.1198T>A (p.Ser400Thr) | |
| 3 | g.42688187T>C | CA352293339 | KLHL40 | c.1198T>C (p.Ser400Pro) | |
| 3 | g.42688187T>G | CA352293336 | KLHL40 | c.1198T>G (p.Ser400Ala) | |
| 3 | g.42688188C>A | CA352293341 | KLHL40 | c.1199C>A (p.Ser400Ter) | |
| 3 | g.42688188C= | CA1360457366 | KLHL40 | c.1199C= (p.Ser400=) | |
| 3 | g.42688188C>G | CA352293342 | KLHL40 | c.1199C>G (p.Ser400Trp) | |
| 3 | g.42688188C>T | CA352293344 | KLHL40 | c.1199C>T (p.Ser400Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688189G>A | CA2336856 | KLHL40 | c.1200G>A (p.Ser400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688189G>C | CA433210717 | KLHL40 | c.1200G>C (p.Ser400=) | |
| 3 | g.42688189G= | CA1360457367 | KLHL40 | c.1200G= (p.Ser400=) | |
| 3 | g.42688189G>T | CA433210711 | KLHL40 | c.1200G>T (p.Ser400=) | |
| 3 | g.42688190C>A | CA352293345 | KLHL40 | c.1201C>A (p.Pro401Thr) | gnomAD v4 |
| 3 | g.42688190C>G | CA352293346 | KLHL40 | c.1201C>G (p.Pro401Ala) | |
| 3 | g.42688190C>T | CA352293348 | KLHL40 | c.1201C>T (p.Pro401Ser) | gnomAD v4 |
| 3 | g.42688191C>A | CA352293349 | KLHL40 | c.1202C>A (p.Pro401His) | |
| 3 | g.42688191C= | CA1360457368 | KLHL40 | c.1202C= (p.Pro401=) | |
| 3 | g.42688191C>G | CA352293350 | KLHL40 | c.1202C>G (p.Pro401Arg) | gnomAD v4 |
| 3 | g.42688191C>T | CA352293352 | KLHL40 | c.1202C>T (p.Pro401Leu) | dbSNP |
| 3 | g.42688192C>A | CA433210732 | KLHL40 | c.1203C>A (p.Pro401=) | |
| 3 | g.42688192C= | CA1360457369 | KLHL40 | c.1203C= (p.Pro401=) | |
| 3 | g.42688192C>G | CA433210734 | KLHL40 | c.1203C>G (p.Pro401=) | |
| 3 | g.42688192C>T | CA433210737 | KLHL40 | c.1203C>T (p.Pro401=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688193C>A | CA352293353 | KLHL40 | c.1204C>A (p.Arg402Ser) | |
| 3 | g.42688193C= | CA1360457370 | KLHL40 | c.1204C= (p.Arg402=) | |
| 3 | g.42688193C>G | CA352293354 | KLHL40 | c.1204C>G (p.Arg402Gly) | |
| 3 | g.42688193C>T | CA2336857 | KLHL40 | c.1204C>T (p.Arg402Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.42688194G>A | CA2336858 | KLHL40 | c.1205G>A (p.Arg402His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.42688194G>C | CA352293357 | KLHL40 | c.1205G>C (p.Arg402Pro) | |
| 3 | g.42688194G= | CA1360457371 | KLHL40 | c.1205G= (p.Arg402=) | |
| 3 | g.42688194G>T | CA352293356 | KLHL40 | c.1205G>T (p.Arg402Leu) | gnomAD v4 |
| 3 | g.42688195C>A | CA433210753 | KLHL40 | c.1206C>A (p.Arg402=) | |
| 3 | g.42688195C>G | CA433210757 | KLHL40 | c.1206C>G (p.Arg402=) | |
| 3 | g.42688195C>T | CA433210759 | KLHL40 | c.1206C>T (p.Arg402=) | |
| 3 | g.42688196T>A | CA352293359 | KLHL40 | c.1207T>A (p.Cys403Ser) | |
| 3 | g.42688196T>C | CA352293361 | KLHL40 | c.1207T>C (p.Cys403Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688196T>G | CA352293362 | KLHL40 | c.1207T>G (p.Cys403Gly) | |
| 3 | g.42688196T= | CA1360457372 | KLHL40 | c.1207T= (p.Cys403=) | |
| 3 | g.42688197G>A | CA352293363 | KLHL40 | c.1208G>A (p.Cys403Tyr) | dbSNP |
| 3 | g.42688197G>C | CA352293364 | KLHL40 | c.1208G>C (p.Cys403Ser) | |
| 3 | g.42688197G= | CA1360457373 | KLHL40 | c.1208G= (p.Cys403=) | |
| 3 | g.42688197G>T | CA352293365 | KLHL40 | c.1208G>T (p.Cys403Phe) | |
| 3 | g.42688198C>A | CA352293366 | KLHL40 | c.1209C>A (p.Cys403Ter) | |
| 3 | g.42688198C= | CA1360457374 | KLHL40 | c.1209C= (p.Cys403=) | |
| 3 | g.42688198C>G | CA352293367 | KLHL40 | c.1209C>G (p.Cys403Trp) | COSMIC |
| 3 | g.42688198C>T | CA433210771 | KLHL40 | c.1209C>T (p.Cys403=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688199C>A | CA352293369 | KLHL40 | c.1210C>A (p.Leu404Ile) | |
| 3 | g.42688199C= | CA1360457375 | KLHL40 | c.1210C= (p.Leu404=) | |
| 3 | g.42688199C>G | CA2336859 | KLHL40 | c.1210C>G (p.Leu404Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688199C>T | CA352293371 | KLHL40 | c.1210C>T (p.Leu404Phe) | gnomAD v4 COSMIC |
| 3 | g.42688200T>A | CA352293372 | KLHL40 | c.1211T>A (p.Leu404His) | |
| 3 | g.42688200T>C | CA352293374 | KLHL40 | c.1211T>C (p.Leu404Pro) | |
| 3 | g.42688200T>G | CA352293375 | KLHL40 | c.1211T>G (p.Leu404Arg) | |
| 3 | g.42688201C>A | CA433210790 | KLHL40 | c.1212C>A (p.Leu404=) | |
| 3 | g.42688201C>G | CA433210787 | KLHL40 | c.1212C>G (p.Leu404=) | gnomAD v4 |
| 3 | g.42688201C>T | CA433210785 | KLHL40 | c.1212C>T (p.Leu404=) | gnomAD v4 |
| 3 | g.42688202T>A | CA352293379 | KLHL40 | c.1213T>A (p.Phe405Ile) | |
| 3 | g.42688202T>C | CA352293378 | KLHL40 | c.1213T>C (p.Phe405Leu) | |
| 3 | g.42688202T>G | CA352293376 | KLHL40 | c.1213T>G (p.Phe405Val) | |
| 3 | g.42688203T>A | CA352293382 | KLHL40 | c.1214T>A (p.Phe405Tyr) | |
| 3 | g.42688203T>C | CA352293381 | KLHL40 | c.1214T>C (p.Phe405Ser) | |
| 3 | g.42688203T>G | CA352293384 | KLHL40 | c.1214T>G (p.Phe405Cys) | |
| 3 | g.42688204T>A | CA352293385 | KLHL40 | c.1215T>A (p.Phe405Leu) | |
| 3 | g.42688204T>C | CA433210803 | KLHL40 | c.1215T>C (p.Phe405=) | dbSNP gnomAD v2 |
| 3 | g.42688204T>G | CA352293386 | KLHL40 | c.1215T>G (p.Phe405Leu) | |
| 3 | g.42688204T= | CA1360457376 | KLHL40 | c.1215T= (p.Phe405=) | |
| 3 | g.42688205G>A | CA352293388 | KLHL40 | c.1216G>A (p.Gly406Ser) | |
| 3 | g.42688205G>C | CA352293391 | KLHL40 | c.1216G>C (p.Gly406Arg) | |
| 3 | g.42688205G>T | CA352293390 | KLHL40 | c.1216G>T (p.Gly406Cys) | |
| 3 | g.42688206G>A | CA352293392 | KLHL40 | c.1217G>A (p.Gly406Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688206G>C | CA352293395 | KLHL40 | c.1217G>C (p.Gly406Ala) | |
| 3 | g.42688206G= | CA1360457377 | KLHL40 | c.1217G= (p.Gly406=) | |
| 3 | g.42688206G>T | CA352293394 | KLHL40 | c.1217G>T (p.Gly406Val) | dbSNP |
| 3 | g.42688207C>A | CA433210818 | KLHL40 | c.1218C>A (p.Gly406=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688207C= | CA1360457378 | KLHL40 | c.1218C= (p.Gly406=) | |
| 3 | g.42688207C>G | CA433210823 | KLHL40 | c.1218C>G (p.Gly406=) | |
| 3 | g.42688207C>T | CA433210821 | KLHL40 | c.1218C>T (p.Gly406=) | |
| 3 | g.42688208C>A | CA352293397 | KLHL40 | c.1219C>A (p.Leu407Met) | |
| 3 | g.42688208C>G | CA352293398 | KLHL40 | c.1219C>G (p.Leu407Val) | |
| 3 | g.42688208C>T | CA433210830 | KLHL40 | c.1219C>T (p.Leu407=) | ClinVar gnomAD v4 |
| 3 | g.42688209T>A | CA352293400 | KLHL40 | c.1220T>A (p.Leu407Gln) | |
| 3 | g.42688209T>C | CA2336860 | KLHL40 | c.1220T>C (p.Leu407Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688209T>G | CA352293401 | KLHL40 | c.1220T>G (p.Leu407Arg) | |
| 3 | g.42688209T= | CA1360457379 | KLHL40 | c.1220T= (p.Leu407=) | |
| 3 | g.42688210G>A | CA433210837 | KLHL40 | c.1221G>A (p.Leu407=) | |
| 3 | g.42688210G>C | CA433210839 | KLHL40 | c.1221G>C (p.Leu407=) | |
| 3 | g.42688210G= | CA1360457380 | KLHL40 | c.1221G= (p.Leu407=) | |
| 3 | g.42688210G>T | CA2336861 | KLHL40 | c.1221G>T (p.Leu407=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688211G>A | CA352293403 | KLHL40 | c.1222G>A (p.Gly408Arg) | |
| 3 | g.42688211G>C | CA352293404 | KLHL40 | c.1222G>C (p.Gly408Arg) | |
| 3 | g.42688211G= | CA1360457383 | KLHL40 | c.1222G= (p.Gly408=) | |
| 3 | g.42688211G>T | CA2336862 | KLHL40 | c.1222G>T (p.Gly408Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688211_42688213delinsGGA | CA1360457382 | KLHL40 | c.1222_1224delinsGGA (p.Gly408=) | |
| 3 | g.42688211_42688215delinsGGAGA | CA1360457381 | KLHL40 | c.1222_1226delinsGGAGA (p.Gly408=) | |
| 3 | g.42688212G>A | CA352293409 | KLHL40 | c.1223G>A (p.Gly408Glu) | |
| 3 | g.42688212G>C | CA352293407 | KLHL40 | c.1223G>C (p.Gly408Ala) | |
| 3 | g.42688212G>T | CA352293406 | KLHL40 | c.1223G>T (p.Gly408Val) | |
| 3 | g.42688212_42688215del | CA907253071 | KLHL40 | c.1223_1226del (p.Gly408GlufsTer?) c.1223_1226del (p.Gly408GlufsTer30) | dbSNP gnomAD v4 |
| 3 | g.42688214_42688215del | CA907253069 | KLHL40 | c.1225_1226del (p.Glu409SerfsTer?) | dbSNP |
| 3 | g.42688213A>C | CA433210860 | KLHL40 | c.1224A>C (p.Gly408=) | |
| 3 | g.42688213A>G | CA433210863 | KLHL40 | c.1224A>G (p.Gly408=) | |
| 3 | g.42688213A>T | CA433210865 | KLHL40 | c.1224A>T (p.Gly408=) | |
| 3 | g.42688214G>A | CA352293411 | KLHL40 | c.1225G>A (p.Glu409Lys) | |
| 3 | g.42688214G>C | CA352293412 | KLHL40 | c.1225G>C (p.Glu409Gln) | |
| 3 | g.42688214G>T | CA352293414 | KLHL40 | c.1225G>T (p.Glu409Ter) | |
| 3 | g.42688215A>C | CA352293415 | KLHL40 | c.1226A>C (p.Glu409Ala) | |
| 3 | g.42688215A>G | CA352293417 | KLHL40 | c.1226A>G (p.Glu409Gly) | |
| 3 | g.42688215A>T | CA352293418 | KLHL40 | c.1226A>T (p.Glu409Val) | |
| 3 | g.42688216A>C | CA352293420 | KLHL40 | c.1227A>C (p.Glu409Asp) | |
| 3 | g.42688216A>G | CA433210880 | KLHL40 | c.1227A>G (p.Glu409=) | |
| 3 | g.42688216A>T | CA352293421 | KLHL40 | c.1227A>T (p.Glu409Asp) | |
| 3 | g.42688217G>A | CA352293423 | KLHL40 | c.1228G>A (p.Ala410Thr) | |
| 3 | g.42688217G>C | CA352293424 | KLHL40 | c.1228G>C (p.Ala410Pro) | |
| 3 | g.42688217G>T | CA352293425 | KLHL40 | c.1228G>T (p.Ala410Ser) | |
| 3 | g.42688218C>A | CA352293427 | KLHL40 | c.1229C>A (p.Ala410Asp) | |
| 3 | g.42688218C= | CA1360457384 | KLHL40 | c.1229C= (p.Ala410=) | |
| 3 | g.42688218C>G | CA352293429 | KLHL40 | c.1229C>G (p.Ala410Gly) | gnomAD v4 |
| 3 | g.42688218C>T | CA352293426 | KLHL40 | c.1229C>T (p.Ala410Val) | |
| 3 | g.42688219T>A | CA433210899 | KLHL40 | c.1230T>A (p.Ala410=) | |
| 3 | g.42688219T>C | CA433210902 | KLHL40 | c.1230T>C (p.Ala410=) | gnomAD v4 |
| 3 | g.42688219T>G | CA433210904 | KLHL40 | c.1230T>G (p.Ala410=) | |
| 3 | g.42688219dup | CA2336863 | KLHL40 | c.1230dup (p.Leu411SerfsTer?) | dbSNP ExAC gnomAD v2 |
| 3 | g.42688220C>A | CA352293431 | KLHL40 | c.1231C>A (p.Leu411Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688220C= | CA1360457385 | KLHL40 | c.1231C= (p.Leu411=) | |
| 3 | g.42688220C>G | CA2336864 | KLHL40 | c.1231C>G (p.Leu411Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688220C>T | CA352293433 | KLHL40 | c.1231C>T (p.Leu411Phe) | gnomAD v4 |
| 3 | g.42688221T>A | CA352293434 | KLHL40 | c.1232T>A (p.Leu411His) | |
| 3 | g.42688221T>C | CA352293436 | KLHL40 | c.1232T>C (p.Leu411Pro) | |
| 3 | g.42688221T>G | CA352293437 | KLHL40 | c.1232T>G (p.Leu411Arg) | |
| 3 | g.42688222C>A | CA433210920 | KLHL40 | c.1233C>A (p.Leu411=) | |
| 3 | g.42688222C>G | CA433210923 | KLHL40 | c.1233C>G (p.Leu411=) | gnomAD v4 |
| 3 | g.42688222C>T | CA433210926 | KLHL40 | c.1233C>T (p.Leu411=) | |
| 3 | g.42688223A>C | CA352293439 | KLHL40 | c.1234A>C (p.Asn412His) | |
| 3 | g.42688223A>G | CA352293440 | KLHL40 | c.1234A>G (p.Asn412Asp) | gnomAD v4 |
| 3 | g.42688223A>T | CA352293441 | KLHL40 | c.1234A>T (p.Asn412Tyr) | |
| 3 | g.42688224A= | CA1360457386 | KLHL40 | c.1235A= (p.Asn412=) | |
| 3 | g.42688224A>C | CA352293442 | KLHL40 | c.1235A>C (p.Asn412Thr) | |
| 3 | g.42688224A>G | CA74192980 | KLHL40 | c.1235A>G (p.Asn412Ser) | dbSNP |
| 3 | g.42688224A>T | CA352293445 | KLHL40 | c.1235A>T (p.Asn412Ile) | |
| 3 | g.42688225C>A | CA352293447 | KLHL40 | c.1236C>A (p.Asn412Lys) | |
| 3 | g.42688225C= | CA1360457387 | KLHL40 | c.1236C= (p.Asn412=) | |
| 3 | g.42688225C>G | CA352293448 | KLHL40 | c.1236C>G (p.Asn412Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688225C>T | CA433210943 | KLHL40 | c.1236C>T (p.Asn412=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688226T>A | CA352293449 | KLHL40 | c.1237T>A (p.Ser413Thr) | gnomAD v4 |
| 3 | g.42688226T>C | CA352293451 | KLHL40 | c.1237T>C (p.Ser413Pro) | |
| 3 | g.42688226T>G | CA352293453 | KLHL40 | c.1237T>G (p.Ser413Ala) | |
| 3 | g.42688227C>A | CA352293454 | KLHL40 | c.1238C>A (p.Ser413Tyr) | |
| 3 | g.42688227C>G | CA352293456 | KLHL40 | c.1238C>G (p.Ser413Cys) | |
| 3 | g.42688227C>T | CA352293457 | KLHL40 | c.1238C>T (p.Ser413Phe) | |
| 3 | g.42688228C>A | CA433210968 | KLHL40 | c.1239C>A (p.Ser413=) | dbSNP gnomAD v4 |
| 3 | g.42688228C= | CA1360457388 | KLHL40 | c.1239C= (p.Ser413=) | |
| 3 | g.42688228C>G | CA433210965 | KLHL40 | c.1239C>G (p.Ser413=) | |
| 3 | g.42688228C>T | CA433210963 | KLHL40 | c.1239C>T (p.Ser413=) | COSMIC |
| 3 | g.42688229A= | CA1360457389 | KLHL40 | c.1240A= (p.Ile414=) | |
| 3 | g.42688229A>C | CA352293459 | KLHL40 | c.1240A>C (p.Ile414Leu) | |
| 3 | g.42688229A>G | CA352293460 | KLHL40 | c.1240A>G (p.Ile414Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688229A>T | CA352293462 | KLHL40 | c.1240A>T (p.Ile414Phe) | |
| 3 | g.42688230T>A | CA352293464 | KLHL40 | c.1241T>A (p.Ile414Asn) | |
| 3 | g.42688230T>C | CA352293465 | KLHL40 | c.1241T>C (p.Ile414Thr) | |
| 3 | g.42688230T>G | CA352293468 | KLHL40 | c.1241T>G (p.Ile414Ser) | |
| 3 | g.42688231C>A | CA433210986 | KLHL40 | c.1242C>A (p.Ile414=) | |
| 3 | g.42688231C= | CA1360457390 | KLHL40 | c.1242C= (p.Ile414=) | |
| 3 | g.42688231C>G | CA352293470 | KLHL40 | c.1242C>G (p.Ile414Met) | |
| 3 | g.42688231C>T | CA433210992 | KLHL40 | c.1242C>T (p.Ile414=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688232T>A | CA352293473 | KLHL40 | c.1243T>A (p.Tyr415Asn) | |
| 3 | g.42688232T>C | CA2336865 | KLHL40 | c.1243T>C (p.Tyr415His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688232T>G | CA352293472 | KLHL40 | c.1243T>G (p.Tyr415Asp) | |
| 3 | g.42688232T= | CA1360457391 | KLHL40 | c.1243T= (p.Tyr415=) | |
| 3 | g.42688233A= | CA1360457392 | KLHL40 | c.1244A= (p.Tyr415=) | |
| 3 | g.42688233A>C | CA352293478 | KLHL40 | c.1244A>C (p.Tyr415Ser) | |
| 3 | g.42688233A>G | CA2336866 | KLHL40 | c.1244A>G (p.Tyr415Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688233A>T | CA352293476 | KLHL40 | c.1244A>T (p.Tyr415Phe) | |
| 3 | g.42688234C>A | CA352293480 | KLHL40 | c.1245C>A (p.Tyr415Ter) | |
| 3 | g.42688234C= | CA1360457393 | KLHL40 | c.1245C= (p.Tyr415=) | |
| 3 | g.42688234C>G | CA352293481 | KLHL40 | c.1245C>G (p.Tyr415Ter) | |
| 3 | g.42688234C>T | CA2336867 | KLHL40 | c.1245C>T (p.Tyr415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.42688235G>A | CA2336868 | KLHL40 | c.1246G>A (p.Val416Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688235G>C | CA352293485 | KLHL40 | c.1246G>C (p.Val416Leu) | gnomAD v4 |
| 3 | g.42688235G= | CA1360457394 | KLHL40 | c.1246G= (p.Val416=) | |
| 3 | g.42688235G>T | CA352293483 | KLHL40 | c.1246G>T (p.Val416Leu) | COSMIC |
| 3 | g.42688236T>A | CA352293487 | KLHL40 | c.1247T>A (p.Val416Glu) | |
| 3 | g.42688236T>C | CA352293488 | KLHL40 | c.1247T>C (p.Val416Ala) | |
| 3 | g.42688236T>G | CA352293489 | KLHL40 | c.1247T>G (p.Val416Gly) | |
| 3 | g.42688237G>A | CA433211033 | KLHL40 | c.1248G>A (p.Val416=) | |
| 3 | g.42688237G>C | CA433211035 | KLHL40 | c.1248G>C (p.Val416=) | |
| 3 | g.42688237G>T | CA433211038 | KLHL40 | c.1248G>T (p.Val416=) | |
| 3 | g.42688238G>A | CA352293490 | KLHL40 | c.1249G>A (p.Val417Ile) | dbSNP gnomAD v2 |
| 3 | g.42688238G>C | CA352293492 | KLHL40 | c.1249G>C (p.Val417Leu) | |
| 3 | g.42688238G= | CA1360457395 | KLHL40 | c.1249G= (p.Val417=) | |
| 3 | g.42688238G>T | CA352293494 | KLHL40 | c.1249G>T (p.Val417Phe) | |
| 3 | g.42688239T>A | CA352293496 | KLHL40 | c.1250T>A (p.Val417Asp) | |
| 3 | g.42688239T>C | CA352293499 | KLHL40 | c.1250T>C (p.Val417Ala) | gnomAD v4 |
| 3 | g.42688239T>G | CA352293497 | KLHL40 | c.1250T>G (p.Val417Gly) | |
| 3 | g.42688240C>A | CA433211052 | KLHL40 | c.1251C>A (p.Val417=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688240C= | CA1360457396 | KLHL40 | c.1251C= (p.Val417=) | |
| 3 | g.42688240C>G | CA2336869 | KLHL40 | c.1251C>G (p.Val417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688240C>T | CA2336870 | KLHL40 | c.1251C>T (p.Val417=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688241G>A | CA2336871 | KLHL40 | c.1252G>A (p.Gly418Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.42688241G>C | CA352293502 | KLHL40 | c.1252G>C (p.Gly418Arg) | gnomAD v4 |
| 3 | g.42688241G= | CA1360457397 | KLHL40 | c.1252G= (p.Gly418=) | |
| 3 | g.42688241G>T | CA352293504 | KLHL40 | c.1252G>T (p.Gly418Cys) | |
| 3 | g.42688242G>A | CA352293506 | KLHL40 | c.1253G>A (p.Gly418Asp) | |
| 3 | g.42688242G>C | CA352293507 | KLHL40 | c.1253G>C (p.Gly418Ala) | |
| 3 | g.42688242G= | CA1360457398 | KLHL40 | c.1253G= (p.Gly418=) | |
| 3 | g.42688242G>T | CA352293509 | KLHL40 | c.1253G>T (p.Gly418Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688243T>A | CA433211070 | KLHL40 | c.1254T>A (p.Gly418=) | |
| 3 | g.42688243T>C | CA433211071 | KLHL40 | c.1254T>C (p.Gly418=) | dbSNP |
| 3 | g.42688243T>G | CA433211074 | KLHL40 | c.1254T>G (p.Gly418=) | |
| 3 | g.42688243T= | CA1360457399 | KLHL40 | c.1254T= (p.Gly418=) | |
| 3 | g.42688244G>A | CA352293511 | KLHL40 | c.1255G>A (p.Gly419Ser) | |
| 3 | g.42688244G>C | CA352293512 | KLHL40 | c.1255G>C (p.Gly419Arg) | |
| 3 | g.42688244G>T | CA352293514 | KLHL40 | c.1255G>T (p.Gly419Cys) | |
| 3 | g.42688245G>A | CA352293520 | KLHL40 | c.1256G>A (p.Gly419Asp) | |
| 3 | g.42688245G>C | CA352293519 | KLHL40 | c.1256G>C (p.Gly419Ala) | |
| 3 | g.42688245G>T | CA352293517 | KLHL40 | c.1256G>T (p.Gly419Val) | |
| 3 | g.42688246C>A | CA433211093 | KLHL40 | c.1257C>A (p.Gly419=) | |
| 3 | g.42688246C>G | CA433211096 | KLHL40 | c.1257C>G (p.Gly419=) | |
| 3 | g.42688246C>T | CA433211098 | KLHL40 | c.1257C>T (p.Gly419=) | |
| 3 | g.42688247A= | CA1360457400 | KLHL40 | c.1258A= (p.Arg420=) | |
| 3 | g.42688247A>C | CA433211105 | KLHL40 | c.1258A>C (p.Arg420=) | |
| 3 | g.42688247A>G | CA74193007 | KLHL40 | c.1258A>G (p.Arg420Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688247A>T | CA352293523 | KLHL40 | c.1258A>T (p.Arg420Ter) | |
| 3 | g.42688248G>A | CA352293524 | KLHL40 | c.1259G>A (p.Arg420Lys) | |
| 3 | g.42688248G>C | CA352293525 | KLHL40 | c.1259G>C (p.Arg420Thr) | |
| 3 | g.42688248G>T | CA352293526 | KLHL40 | c.1259G>T (p.Arg420Ile) | |
| 3 | g.42688249A>C | CA352293529 | KLHL40 | c.1260A>C (p.Arg420Ser) | |
| 3 | g.42688249A>G | CA433211117 | KLHL40 | c.1260A>G (p.Arg420=) | |
| 3 | g.42688249A>T | CA352293530 | KLHL40 | c.1260A>T (p.Arg420Ser) | |
| 3 | g.42688250G>A | CA352293531 | KLHL40 | c.1261G>A (p.Glu421Lys) | |
| 3 | g.42688250G>C | CA352293532 | KLHL40 | c.1261G>C (p.Glu421Gln) | gnomAD v4 |
| 3 | g.42688250G>T | CA352293534 | KLHL40 | c.1261G>T (p.Glu421Ter) | COSMIC |
| 3 | g.42688251A>C | CA352293536 | KLHL40 | c.1262A>C (p.Glu421Ala) | |
| 3 | g.42688251A>G | CA352293538 | KLHL40 | c.1262A>G (p.Glu421Gly) | gnomAD v4 |
| 3 | g.42688251A>T | CA352293541 | KLHL40 | c.1262A>T (p.Glu421Val) | COSMIC |
| 3 | g.42688252G>A | CA2336872 | KLHL40 | c.1263G>A (p.Glu421=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688252G>C | CA352293543 | KLHL40 | c.1263G>C (p.Glu421Asp) | ClinVar dbSNP |
| 3 | g.42688252G= | CA1360457401 | KLHL40 | c.1263G= (p.Glu421=) | |
| 3 | g.42688252G>T | CA352293544 | KLHL40 | c.1263G>T (p.Glu421Asp) | |
| 3 | g.42688253A>C | CA352293547 | KLHL40 | c.1264A>C (p.Ile422Leu) | |
| 3 | g.42688253A>G | CA352293548 | KLHL40 | c.1264A>G (p.Ile422Val) | |
| 3 | g.42688253A>T | CA352293549 | KLHL40 | c.1264A>T (p.Ile422Phe) | |
| 3 | g.42688254T>A | CA74193021 | KLHL40 | c.1265T>A (p.Ile422Asn) | dbSNP |
| 3 | g.42688254T>C | CA2336873 | KLHL40 | c.1265T>C (p.Ile422Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688254T>G | CA352293552 | KLHL40 | c.1265T>G (p.Ile422Ser) | gnomAD v4 |
| 3 | g.42688254T= | CA1360457402 | KLHL40 | c.1265T= (p.Ile422=) | |
| 3 | g.42688255C>A | CA433211164 | KLHL40 | c.1266C>A (p.Ile422=) | |
| 3 | g.42688255C>G | CA352293554 | KLHL40 | c.1266C>G (p.Ile422Met) | |
| 3 | g.42688255C>T | CA433211162 | KLHL40 | c.1266C>T (p.Ile422=) | |
| 3 | g.42688256A>C | CA352293555 | KLHL40 | c.1267A>C (p.Lys423Gln) | |
| 3 | g.42688256A>G | CA352293557 | KLHL40 | c.1267A>G (p.Lys423Glu) | |
| 3 | g.42688256A>T | CA352293558 | KLHL40 | c.1267A>T (p.Lys423Ter) | |
| 3 | g.42688257A>C | CA352293560 | KLHL40 | c.1268A>C (p.Lys423Thr) | |
| 3 | g.42688257A>G | CA352293561 | KLHL40 | c.1268A>G (p.Lys423Arg) | gnomAD v4 |
| 3 | g.42688257A>T | CA352293562 | KLHL40 | c.1268A>T (p.Lys423Met) | |
| 3 | g.42688258G>A | CA433211185 | KLHL40 | c.1269G>A (p.Lys423=) | |
| 3 | g.42688258G>C | CA352293563 | KLHL40 | c.1269G>C (p.Lys423Asn) | |
| 3 | g.42688258G>T | CA352293564 | KLHL40 | c.1269G>T (p.Lys423Asn) | |
| 3 | g.42688259G>A | CA352293567 | KLHL40 | c.1270G>A (p.Asp424Asn) | |
| 3 | g.42688259G>C | CA352293569 | KLHL40 | c.1270G>C (p.Asp424His) | |
| 3 | g.42688259G>T | CA352293568 | KLHL40 | c.1270G>T (p.Asp424Tyr) | |
| 3 | g.42688259_42688261delinsAGATCAAGGT | CA645509029 | KLHL40 | c.1270_1272delinsAGATCAAGGT (p.Asp424ArgfsTer23) c.1270_1272delinsAGATCAAGGT (p.Asp424ArgfsTer27) | |
| 3 | g.42688260A>C | CA352293570 | KLHL40 | c.1271A>C (p.Asp424Ala) | |
| 3 | g.42688260A>G | CA352293572 | KLHL40 | c.1271A>G (p.Asp424Gly) | gnomAD v4 |
| 3 | g.42688260A>T | CA352293573 | KLHL40 | c.1271A>T (p.Asp424Val) | |
| 3 | g.42688261C>A | CA352293575 | KLHL40 | c.1272C>A (p.Asp424Glu) | |
| 3 | g.42688261C= | CA1360457403 | KLHL40 | c.1272C= (p.Asp424=) | |
| 3 | g.42688261C>G | CA352293577 | KLHL40 | c.1272C>G (p.Asp424Glu) | |
| 3 | g.42688261C>T | CA2336874 | KLHL40 | c.1272C>T (p.Asp424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688262G>A | CA2336875 | KLHL40 | c.1273G>A (p.Gly425Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688262G>C | CA352293579 | KLHL40 | c.1273G>C (p.Gly425Arg) | |
| 3 | g.42688262G= | CA1360457404 | KLHL40 | c.1273G= (p.Gly425=) | |
| 3 | g.42688262G>T | CA352293581 | KLHL40 | c.1273G>T (p.Gly425Cys) | gnomAD v4 |
| 3 | g.42688263dup | CA645294026 | KLHL40 | c.1274dup (p.Glu426ArgfsTer19) c.1274dup (p.Glu426ArgfsTer23) | ClinVar dbSNP |
| 3 | g.42688263G>A | CA352293582 | KLHL40 | c.1274G>A (p.Gly425Asp) | COSMIC |
| 3 | g.42688263G>C | CA352293583 | KLHL40 | c.1274G>C (p.Gly425Ala) | |
| 3 | g.42688263G>T | CA352293585 | KLHL40 | c.1274G>T (p.Gly425Val) | |
| 3 | g.42688264C>A | CA433211222 | KLHL40 | c.1275C>A (p.Gly425=) | |
| 3 | g.42688264C= | CA1360457405 | KLHL40 | c.1275C= (p.Gly425=) | |
| 3 | g.42688264C>G | CA433211225 | KLHL40 | c.1275C>G (p.Gly425=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.42688264C>T | CA2336876 | KLHL40 | c.1275C>T (p.Gly425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688265G>A | CA2336877 | KLHL40 | c.1276G>A (p.Glu426Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.42688265G>C | CA352293587 | KLHL40 | c.1276G>C (p.Glu426Gln) | gnomAD v4 |
| 3 | g.42688265G= | CA1360457406 | KLHL40 | c.1276G= (p.Glu426=) | |
| 3 | g.42688265G>T | CA352293588 | KLHL40 | c.1276G>T (p.Glu426Ter) | |
| 3 | g.42688266A>C | CA352293590 | KLHL40 | c.1277A>C (p.Glu426Ala) | |
| 3 | g.42688266A>G | CA352293591 | KLHL40 | c.1277A>G (p.Glu426Gly) | |
| 3 | g.42688266A>T | CA352293592 | KLHL40 | c.1277A>T (p.Glu426Val) | |
| 3 | g.42688267G>A | CA433211247 | KLHL40 | c.1278G>A (p.Glu426=) | |
| 3 | g.42688267G>C | CA352293593 | KLHL40 | c.1278G>C (p.Glu426Asp) | |
| 3 | g.42688267G>T | CA352293594 | KLHL40 | c.1278G>T (p.Glu426Asp) | |
| 3 | g.42688268C>A | CA74193051 | KLHL40 | c.1279C>A (p.Arg427Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.42688268C= | CA1360457407 | KLHL40 | c.1279C= (p.Arg427=) | |
| 3 | g.42688268C>G | CA352293597 | KLHL40 | c.1279C>G (p.Arg427Gly) | |
| 3 | g.42688268C>T | CA2336879 | KLHL40 | c.1279C>T (p.Arg427Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688268_42688282delinsCGCTGCCTGGACTCG | CA1360457408 | KLHL40 | c.1279_1293delinsCGCTGCCTGGACTCG (p.Arg427=) | |
| 3 | g.42688269G>A | CA74193055 | KLHL40 | c.1280G>A (p.Arg427His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.42688269G>C | CA352293599 | KLHL40 | c.1280G>C (p.Arg427Pro) | |
| 3 | g.42688269G= | CA1360457409 | KLHL40 | c.1280G= (p.Arg427=) | |
| 3 | g.42688269G>T | CA352293601 | KLHL40 | c.1280G>T (p.Arg427Leu) | |
| 3 | g.42688270_42688283del | CA2336878 | KLHL40 | c.1281_1294del (p.Cys428HisfsTer12) c.1281_1294del (p.Cys428HisfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.42688270C>A | CA433211279 | KLHL40 | c.1281C>A (p.Arg427=) | |
| 3 | g.42688270C>G | CA433211276 | KLHL40 | c.1281C>G (p.Arg427=) | |
| 3 | g.42688270C>T | CA433211273 | KLHL40 | c.1281C>T (p.Arg427=) | gnomAD v4 |
| 3 | g.42688271T>A | CA352293602 | KLHL40 | c.1282T>A (p.Cys428Ser) | |
| 3 | g.42688271T>C | CA352293605 | KLHL40 | c.1282T>C (p.Cys428Arg) | |
| 3 | g.42688271T>G | CA352293604 | KLHL40 | c.1282T>G (p.Cys428Gly) | |
| 3 | g.42688272G>A | CA352293607 | KLHL40 | c.1283G>A (p.Cys428Tyr) | |
| 3 | g.42688272G>C | CA352293609 | KLHL40 | c.1283G>C (p.Cys428Ser) | |
| 3 | g.42688272G= | CA1360457410 | KLHL40 | c.1283G= (p.Cys428=) | |
| 3 | g.42688272G>T | CA2336880 | KLHL40 | c.1283G>T (p.Cys428Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.42688273C>A | CA352293611 | KLHL40 | c.1284C>A (p.Cys428Ter) | |
| 3 | g.42688273C>G | CA352293613 | KLHL40 | c.1284C>G (p.Cys428Trp) | |
| 3 | g.42688273C>T | CA433211303 | KLHL40 | c.1284C>T (p.Cys428=) | gnomAD v4 |
| 3 | g.42688274C>A | CA352293614 | KLHL40 | c.1285C>A (p.Leu429Met) | |
| 3 | g.42688274C>G | CA352293615 | KLHL40 | c.1285C>G (p.Leu429Val) | |
| 3 | g.42688274C>T | CA433211310 | KLHL40 | c.1285C>T (p.Leu429=) | |
| 3 | g.42688275T>A | CA352293617 | KLHL40 | c.1286T>A (p.Leu429Gln) | |
| 3 | g.42688275T>C | CA352293618 | KLHL40 | c.1286T>C (p.Leu429Pro) | gnomAD v4 |
| 3 | g.42688275T>G | CA352293619 | KLHL40 | c.1286T>G (p.Leu429Arg) |