| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49022046_49022048del | CA2618605245 | KMT2D | c.490_491+1del n.1192_1193+1del n.2154_2155+1del n.926_927+1del c.16568_16569+1del c.491_492+1del c.1113_1115del (n.1113_1115del) c.1674_1675+1del c.16529_16530+1del c.521_522+1del c.16517_16518+1del c.16520_16521+1del c.563_564+1del c.16577_16578+1del c.16574_16575+1del c.16565_16566+1del c.16556_16557+1del c.16511_16512+1del c.16484_16485+1del n.16697_16698+1del | gnomAD v4 |
| 12 | g.49022044T>A | CA384675617 | KMT2D | c.490A>T n.1192A>T n.2154A>T n.926A>T c.16568A>T (p.Glu5523Val) c.491A>T (p.Glu164Val) c.1113A>T (n.1113A>T) c.1674A>T c.16529A>T (p.Glu5510Val) c.521A>T (p.Glu174Val) c.16517A>T (p.Glu5506Val) c.16520A>T (p.Glu5507Val) c.563A>T (p.Glu188Val) c.16577A>T (p.Glu5526Val) c.16574A>T (p.Glu5525Val) c.16565A>T (p.Glu5522Val) c.16556A>T (p.Glu5519Val) c.16511A>T (p.Glu5504Val) c.16484A>T (p.Glu5495Val) n.16697A>T | |
| 12 | g.49022044T>C | CA384675620 | KMT2D | c.490A>G n.1192A>G n.2154A>G n.926A>G c.16568A>G (p.Glu5523Gly) c.491A>G (p.Glu164Gly) c.1113A>G (n.1113A>G) c.1674A>G c.16529A>G (p.Glu5510Gly) c.521A>G (p.Glu174Gly) c.16517A>G (p.Glu5506Gly) c.16520A>G (p.Glu5507Gly) c.563A>G (p.Glu188Gly) c.16577A>G (p.Glu5526Gly) c.16574A>G (p.Glu5525Gly) c.16565A>G (p.Glu5522Gly) c.16556A>G (p.Glu5519Gly) c.16511A>G (p.Glu5504Gly) c.16484A>G (p.Glu5495Gly) n.16697A>G | dbSNP |
| 12 | g.49022044T>G | CA384675623 | KMT2D | c.490A>C n.1192A>C n.2154A>C n.926A>C c.16568A>C (p.Glu5523Ala) c.491A>C (p.Glu164Ala) c.1113A>C (n.1113A>C) c.1674A>C c.16529A>C (p.Glu5510Ala) c.521A>C (p.Glu174Ala) c.16517A>C (p.Glu5506Ala) c.16520A>C (p.Glu5507Ala) c.563A>C (p.Glu188Ala) c.16577A>C (p.Glu5526Ala) c.16574A>C (p.Glu5525Ala) c.16565A>C (p.Glu5522Ala) c.16556A>C (p.Glu5519Ala) c.16511A>C (p.Glu5504Ala) c.16484A>C (p.Glu5495Ala) n.16697A>C | |
| 12 | g.49022045C>A | CA384675628 | KMT2D | c.489G>T n.1191G>T n.2153G>T n.925G>T c.16567G>T (p.Glu5523Ter) c.490G>T (p.Glu164Ter) c.1112G>T (n.1112G>T) c.1673G>T c.16528G>T (p.Glu5510Ter) c.520G>T (p.Glu174Ter) c.16516G>T (p.Glu5506Ter) c.16519G>T (p.Glu5507Ter) c.562G>T (p.Glu188Ter) c.16576G>T (p.Glu5526Ter) c.16573G>T (p.Glu5525Ter) c.16564G>T (p.Glu5522Ter) c.16555G>T (p.Glu5519Ter) c.16510G>T (p.Glu5504Ter) c.16483G>T (p.Glu5495Ter) n.16696G>T | COSMIC COSMIC |
| 12 | g.49022045C>G | CA384675635 | KMT2D | c.489G>C n.1191G>C n.2153G>C n.925G>C c.16567G>C (p.Glu5523Gln) c.490G>C (p.Glu164Gln) c.1112G>C (n.1112G>C) c.1673G>C c.16528G>C (p.Glu5510Gln) c.520G>C (p.Glu174Gln) c.16516G>C (p.Glu5506Gln) c.16519G>C (p.Glu5507Gln) c.562G>C (p.Glu188Gln) c.16576G>C (p.Glu5526Gln) c.16573G>C (p.Glu5525Gln) c.16564G>C (p.Glu5522Gln) c.16555G>C (p.Glu5519Gln) c.16510G>C (p.Glu5504Gln) c.16483G>C (p.Glu5495Gln) n.16696G>C | dbSNP |
| 12 | g.49022045C>T | CA384675626 | KMT2D | c.489G>A n.1191G>A n.2153G>A n.925G>A c.16567G>A (p.Glu5523Lys) c.490G>A (p.Glu164Lys) c.1112G>A (n.1112G>A) c.1673G>A c.16528G>A (p.Glu5510Lys) c.520G>A (p.Glu174Lys) c.16516G>A (p.Glu5506Lys) c.16519G>A (p.Glu5507Lys) c.562G>A (p.Glu188Lys) c.16576G>A (p.Glu5526Lys) c.16573G>A (p.Glu5525Lys) c.16564G>A (p.Glu5522Lys) c.16555G>A (p.Glu5519Lys) c.16510G>A (p.Glu5504Lys) c.16483G>A (p.Glu5495Lys) n.16696G>A | dbSNP |
| 12 | g.49022046C>A | CA384675636 | KMT2D | c.488G>T n.1190G>T n.2152G>T n.924G>T c.16566G>T (p.Glu5522Asp) c.489G>T (p.Glu163Asp) c.1111G>T (n.1111G>T) c.1672G>T c.16527G>T (p.Glu5509Asp) c.519G>T (p.Glu173Asp) c.16515G>T (p.Glu5505Asp) c.16518G>T (p.Glu5506Asp) c.561G>T (p.Glu187Asp) c.16575G>T (p.Glu5525Asp) c.16572G>T (p.Glu5524Asp) c.16563G>T (p.Glu5521Asp) c.16554G>T (p.Glu5518Asp) c.16509G>T (p.Glu5503Asp) c.16482G>T (p.Glu5494Asp) n.16695G>T | |
| 12 | g.49022046C>G | CA384675641 | KMT2D | c.488G>C n.1190G>C n.2152G>C n.924G>C c.16566G>C (p.Glu5522Asp) c.489G>C (p.Glu163Asp) c.1111G>C (n.1111G>C) c.1672G>C c.16527G>C (p.Glu5509Asp) c.519G>C (p.Glu173Asp) c.16515G>C (p.Glu5505Asp) c.16518G>C (p.Glu5506Asp) c.561G>C (p.Glu187Asp) c.16575G>C (p.Glu5525Asp) c.16572G>C (p.Glu5524Asp) c.16563G>C (p.Glu5521Asp) c.16554G>C (p.Glu5518Asp) c.16509G>C (p.Glu5503Asp) c.16482G>C (p.Glu5494Asp) n.16695G>C | |
| 12 | g.49022046C>T | CA479520828 | KMT2D | c.488G>A n.1190G>A n.2152G>A n.924G>A c.16566G>A (p.Glu5522=) c.489G>A (p.Glu163=) c.1111G>A (n.1111G>A) c.1672G>A c.16527G>A (p.Glu5509=) c.519G>A (p.Glu173=) c.16515G>A (p.Glu5505=) c.16518G>A (p.Glu5506=) c.561G>A (p.Glu187=) c.16575G>A (p.Glu5525=) c.16572G>A (p.Glu5524=) c.16563G>A (p.Glu5521=) c.16554G>A (p.Glu5518=) c.16509G>A (p.Glu5503=) c.16482G>A (p.Glu5494=) n.16695G>A | dbSNP |
| 12 | g.49022047T>A | CA384675643 | KMT2D | c.487A>T n.1189A>T n.2151A>T n.923A>T c.16565A>T (p.Glu5522Val) c.488A>T (p.Glu163Val) c.1110A>T (n.1110A>T) c.1671A>T c.16526A>T (p.Glu5509Val) c.518A>T (p.Glu173Val) c.16514A>T (p.Glu5505Val) c.16517A>T (p.Glu5506Val) c.560A>T (p.Glu187Val) c.16574A>T (p.Glu5525Val) c.16571A>T (p.Glu5524Val) c.16562A>T (p.Glu5521Val) c.16553A>T (p.Glu5518Val) c.16508A>T (p.Glu5503Val) c.16481A>T (p.Glu5494Val) n.16694A>T | |
| 12 | g.49022047T>C | CA384675651 | KMT2D | c.487A>G n.1189A>G n.2151A>G n.923A>G c.16565A>G (p.Glu5522Gly) c.488A>G (p.Glu163Gly) c.1110A>G (n.1110A>G) c.1671A>G c.16526A>G (p.Glu5509Gly) c.518A>G (p.Glu173Gly) c.16514A>G (p.Glu5505Gly) c.16517A>G (p.Glu5506Gly) c.560A>G (p.Glu187Gly) c.16574A>G (p.Glu5525Gly) c.16571A>G (p.Glu5524Gly) c.16562A>G (p.Glu5521Gly) c.16553A>G (p.Glu5518Gly) c.16508A>G (p.Glu5503Gly) c.16481A>G (p.Glu5494Gly) n.16694A>G | dbSNP |
| 12 | g.49022047T>G | CA384675653 | KMT2D | c.487A>C n.1189A>C n.2151A>C n.923A>C c.16565A>C (p.Glu5522Ala) c.488A>C (p.Glu163Ala) c.1110A>C (n.1110A>C) c.1671A>C c.16526A>C (p.Glu5509Ala) c.518A>C (p.Glu173Ala) c.16514A>C (p.Glu5505Ala) c.16517A>C (p.Glu5506Ala) c.560A>C (p.Glu187Ala) c.16574A>C (p.Glu5525Ala) c.16571A>C (p.Glu5524Ala) c.16562A>C (p.Glu5521Ala) c.16553A>C (p.Glu5518Ala) c.16508A>C (p.Glu5503Ala) c.16481A>C (p.Glu5494Ala) n.16694A>C | |
| 12 | g.49022048del | CA645594420 | KMT2D | c.486del n.1188del n.2150del n.922del c.16564del (p.Glu5522ArgfsTer3) c.487del (p.Glu163ArgfsTer3) c.1109del (n.1109del) c.1670del c.16525del (p.Glu5509ArgfsTer3) c.517del (p.Glu173ArgfsTer3) c.16513del (p.Glu5505ArgfsTer3) c.16516del (p.Glu5506ArgfsTer3) c.559del (p.Glu187ArgfsTer3) c.16573del (p.Glu5525ArgfsTer3) c.16570del (p.Glu5524ArgfsTer3) c.16561del (p.Glu5521ArgfsTer3) c.16552del (p.Glu5518ArgfsTer3) c.16507del (p.Glu5503ArgfsTer3) c.16480del (p.Glu5494ArgfsTer3) n.16693del | COSMIC COSMIC |
| 12 | g.49022048C>A | CA384675662 | KMT2D | c.486G>T n.1188G>T n.2150G>T n.922G>T c.16564G>T (p.Glu5522Ter) c.487G>T (p.Glu163Ter) c.1109G>T (n.1109G>T) c.1670G>T c.16525G>T (p.Glu5509Ter) c.517G>T (p.Glu173Ter) c.16513G>T (p.Glu5505Ter) c.16516G>T (p.Glu5506Ter) c.559G>T (p.Glu187Ter) c.16573G>T (p.Glu5525Ter) c.16570G>T (p.Glu5524Ter) c.16561G>T (p.Glu5521Ter) c.16552G>T (p.Glu5518Ter) c.16507G>T (p.Glu5503Ter) c.16480G>T (p.Glu5494Ter) n.16693G>T | |
| 12 | g.49022048C>G | CA384675660 | KMT2D | c.486G>C n.1188G>C n.2150G>C n.922G>C c.16564G>C (p.Glu5522Gln) c.487G>C (p.Glu163Gln) c.1109G>C (n.1109G>C) c.1670G>C c.16525G>C (p.Glu5509Gln) c.517G>C (p.Glu173Gln) c.16513G>C (p.Glu5505Gln) c.16516G>C (p.Glu5506Gln) c.559G>C (p.Glu187Gln) c.16573G>C (p.Glu5525Gln) c.16570G>C (p.Glu5524Gln) c.16561G>C (p.Glu5521Gln) c.16552G>C (p.Glu5518Gln) c.16507G>C (p.Glu5503Gln) c.16480G>C (p.Glu5494Gln) n.16693G>C | dbSNP |
| 12 | g.49022048C>T | CA384675661 | KMT2D | c.486G>A n.1188G>A n.2150G>A n.922G>A c.16564G>A (p.Glu5522Lys) c.487G>A (p.Glu163Lys) c.1109G>A (n.1109G>A) c.1670G>A c.16525G>A (p.Glu5509Lys) c.517G>A (p.Glu173Lys) c.16513G>A (p.Glu5505Lys) c.16516G>A (p.Glu5506Lys) c.559G>A (p.Glu187Lys) c.16573G>A (p.Glu5525Lys) c.16570G>A (p.Glu5524Lys) c.16561G>A (p.Glu5521Lys) c.16552G>A (p.Glu5518Lys) c.16507G>A (p.Glu5503Lys) c.16480G>A (p.Glu5494Lys) n.16693G>A | dbSNP |
| 12 | g.49022049T>A | CA479520830 | KMT2D | c.485A>T n.1187A>T n.2149A>T n.921A>T c.16563A>T (p.Gly5521=) c.486A>T (p.Gly162=) c.1108A>T (n.1108A>T) c.1669A>T c.16524A>T (p.Gly5508=) c.516A>T (p.Gly172=) c.16512A>T (p.Gly5504=) c.16515A>T (p.Gly5505=) c.558A>T (p.Gly186=) c.16572A>T (p.Gly5524=) c.16569A>T (p.Gly5523=) c.16560A>T (p.Gly5520=) c.16551A>T (p.Gly5517=) c.16506A>T (p.Gly5502=) c.16479A>T (p.Gly5493=) n.16692A>T | ClinVar |
| 12 | g.49022049T>C | CA479520831 | KMT2D | c.485A>G n.1187A>G n.2149A>G n.921A>G c.16563A>G (p.Gly5521=) c.486A>G (p.Gly162=) c.1108A>G (n.1108A>G) c.1669A>G c.16524A>G (p.Gly5508=) c.516A>G (p.Gly172=) c.16512A>G (p.Gly5504=) c.16515A>G (p.Gly5505=) c.558A>G (p.Gly186=) c.16572A>G (p.Gly5524=) c.16569A>G (p.Gly5523=) c.16560A>G (p.Gly5520=) c.16551A>G (p.Gly5517=) c.16506A>G (p.Gly5502=) c.16479A>G (p.Gly5493=) n.16692A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49022049T>G | CA479520832 | KMT2D | c.485A>C n.1187A>C n.2149A>C n.921A>C c.16563A>C (p.Gly5521=) c.486A>C (p.Gly162=) c.1108A>C (n.1108A>C) c.1669A>C c.16524A>C (p.Gly5508=) c.516A>C (p.Gly172=) c.16512A>C (p.Gly5504=) c.16515A>C (p.Gly5505=) c.558A>C (p.Gly186=) c.16572A>C (p.Gly5524=) c.16569A>C (p.Gly5523=) c.16560A>C (p.Gly5520=) c.16551A>C (p.Gly5517=) c.16506A>C (p.Gly5502=) c.16479A>C (p.Gly5493=) n.16692A>C | |
| 12 | g.49022049T= | CA2034962970 | KMT2D | c.485A= n.1187A= n.2149A= n.921A= c.16563A= (p.Gly5521=) c.486A= (p.Gly162=) c.1108A= (n.1108A=) c.1669A= c.16524A= (p.Gly5508=) c.516A= (p.Gly172=) c.16512A= (p.Gly5504=) c.16515A= (p.Gly5505=) c.558A= (p.Gly186=) c.16572A= (p.Gly5524=) c.16569A= (p.Gly5523=) c.16560A= (p.Gly5520=) c.16551A= (p.Gly5517=) c.16506A= (p.Gly5502=) c.16479A= (p.Gly5493=) n.16692A= | |
| 12 | g.49022050C>A | CA384675663 | KMT2D | c.484G>T n.1186G>T n.2148G>T n.920G>T c.16562G>T (p.Gly5521Val) c.485G>T (p.Gly162Val) c.1107G>T (n.1107G>T) c.1668G>T c.16523G>T (p.Gly5508Val) c.515G>T (p.Gly172Val) c.16511G>T (p.Gly5504Val) c.16514G>T (p.Gly5505Val) c.557G>T (p.Gly186Val) c.16571G>T (p.Gly5524Val) c.16568G>T (p.Gly5523Val) c.16559G>T (p.Gly5520Val) c.16550G>T (p.Gly5517Val) c.16505G>T (p.Gly5502Val) c.16478G>T (p.Gly5493Val) n.16691G>T | |
| 12 | g.49022050C>G | CA384675664 | KMT2D | c.484G>C n.1186G>C n.2148G>C n.920G>C c.16562G>C (p.Gly5521Ala) c.485G>C (p.Gly162Ala) c.1107G>C (n.1107G>C) c.1668G>C c.16523G>C (p.Gly5508Ala) c.515G>C (p.Gly172Ala) c.16511G>C (p.Gly5504Ala) c.16514G>C (p.Gly5505Ala) c.557G>C (p.Gly186Ala) c.16571G>C (p.Gly5524Ala) c.16568G>C (p.Gly5523Ala) c.16559G>C (p.Gly5520Ala) c.16550G>C (p.Gly5517Ala) c.16505G>C (p.Gly5502Ala) c.16478G>C (p.Gly5493Ala) n.16691G>C | dbSNP |
| 12 | g.49022050C>T | CA384675665 | KMT2D | c.484G>A n.1186G>A n.2148G>A n.920G>A c.16562G>A (p.Gly5521Glu) c.485G>A (p.Gly162Glu) c.1107G>A (n.1107G>A) c.1668G>A c.16523G>A (p.Gly5508Glu) c.515G>A (p.Gly172Glu) c.16511G>A (p.Gly5504Glu) c.16514G>A (p.Gly5505Glu) c.557G>A (p.Gly186Glu) c.16571G>A (p.Gly5524Glu) c.16568G>A (p.Gly5523Glu) c.16559G>A (p.Gly5520Glu) c.16550G>A (p.Gly5517Glu) c.16505G>A (p.Gly5502Glu) c.16478G>A (p.Gly5493Glu) n.16691G>A | dbSNP |
| 12 | g.49022051C>A | CA384675667 | KMT2D | c.483G>T n.1185G>T n.2147G>T n.919G>T c.16561G>T (p.Gly5521Ter) c.484G>T (p.Gly162Ter) c.1106G>T (n.1106G>T) c.1667G>T c.16522G>T (p.Gly5508Ter) c.514G>T (p.Gly172Ter) c.16510G>T (p.Gly5504Ter) c.16513G>T (p.Gly5505Ter) c.556G>T (p.Gly186Ter) c.16570G>T (p.Gly5524Ter) c.16567G>T (p.Gly5523Ter) c.16558G>T (p.Gly5520Ter) c.16549G>T (p.Gly5517Ter) c.16504G>T (p.Gly5502Ter) c.16477G>T (p.Gly5493Ter) n.16690G>T | dbSNP |
| 12 | g.49022051C>G | CA384675669 | KMT2D | c.483G>C n.1185G>C n.2147G>C n.919G>C c.16561G>C (p.Gly5521Arg) c.484G>C (p.Gly162Arg) c.1106G>C (n.1106G>C) c.1667G>C c.16522G>C (p.Gly5508Arg) c.514G>C (p.Gly172Arg) c.16510G>C (p.Gly5504Arg) c.16513G>C (p.Gly5505Arg) c.556G>C (p.Gly186Arg) c.16570G>C (p.Gly5524Arg) c.16567G>C (p.Gly5523Arg) c.16558G>C (p.Gly5520Arg) c.16549G>C (p.Gly5517Arg) c.16504G>C (p.Gly5502Arg) c.16477G>C (p.Gly5493Arg) n.16690G>C | dbSNP |
| 12 | g.49022051C>T | CA384675673 | KMT2D | c.483G>A n.1185G>A n.2147G>A n.919G>A c.16561G>A (p.Gly5521Arg) c.484G>A (p.Gly162Arg) c.1106G>A (n.1106G>A) c.1667G>A c.16522G>A (p.Gly5508Arg) c.514G>A (p.Gly172Arg) c.16510G>A (p.Gly5504Arg) c.16513G>A (p.Gly5505Arg) c.556G>A (p.Gly186Arg) c.16570G>A (p.Gly5524Arg) c.16567G>A (p.Gly5523Arg) c.16558G>A (p.Gly5520Arg) c.16549G>A (p.Gly5517Arg) c.16504G>A (p.Gly5502Arg) c.16477G>A (p.Gly5493Arg) n.16690G>A | dbSNP COSMIC COSMIC |
| 12 | g.49022052T>A | CA384675678 | KMT2D | c.482A>T n.1184A>T n.2146A>T n.918A>T c.16560A>T (p.Lys5520Asn) c.483A>T (p.Lys161Asn) c.1105A>T (n.1105A>T) c.1666A>T c.16521A>T (p.Lys5507Asn) c.513A>T (p.Lys171Asn) c.16509A>T (p.Lys5503Asn) c.16512A>T (p.Lys5504Asn) c.555A>T (p.Lys185Asn) c.16569A>T (p.Lys5523Asn) c.16566A>T (p.Lys5522Asn) c.16557A>T (p.Lys5519Asn) c.16548A>T (p.Lys5516Asn) c.16503A>T (p.Lys5501Asn) c.16476A>T (p.Lys5492Asn) n.16689A>T | dbSNP |
| 12 | g.49022052T>C | CA6545360 | KMT2D | c.482A>G n.1184A>G n.2146A>G n.918A>G c.16560A>G (p.Lys5520=) c.483A>G (p.Lys161=) c.1105A>G (n.1105A>G) c.1666A>G c.16521A>G (p.Lys5507=) c.513A>G (p.Lys171=) c.16509A>G (p.Lys5503=) c.16512A>G (p.Lys5504=) c.555A>G (p.Lys185=) c.16569A>G (p.Lys5523=) c.16566A>G (p.Lys5522=) c.16557A>G (p.Lys5519=) c.16548A>G (p.Lys5516=) c.16503A>G (p.Lys5501=) c.16476A>G (p.Lys5492=) n.16689A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49022052T>G | CA384675675 | KMT2D | c.482A>C n.1184A>C n.2146A>C n.918A>C c.16560A>C (p.Lys5520Asn) c.483A>C (p.Lys161Asn) c.1105A>C (n.1105A>C) c.1666A>C c.16521A>C (p.Lys5507Asn) c.513A>C (p.Lys171Asn) c.16509A>C (p.Lys5503Asn) c.16512A>C (p.Lys5504Asn) c.555A>C (p.Lys185Asn) c.16569A>C (p.Lys5523Asn) c.16566A>C (p.Lys5522Asn) c.16557A>C (p.Lys5519Asn) c.16548A>C (p.Lys5516Asn) c.16503A>C (p.Lys5501Asn) c.16476A>C (p.Lys5492Asn) n.16689A>C | |
| 12 | g.49022052T= | CA2034962971 | KMT2D | c.482A= n.1184A= n.2146A= n.918A= c.16560A= (p.Lys5520=) c.483A= (p.Lys161=) c.1105A= (n.1105A=) c.1666A= c.16521A= (p.Lys5507=) c.513A= (p.Lys171=) c.16509A= (p.Lys5503=) c.16512A= (p.Lys5504=) c.555A= (p.Lys185=) c.16569A= (p.Lys5523=) c.16566A= (p.Lys5522=) c.16557A= (p.Lys5519=) c.16548A= (p.Lys5516=) c.16503A= (p.Lys5501=) c.16476A= (p.Lys5492=) n.16689A= | |
| 12 | g.49022053T>A | CA384675690 | KMT2D | c.481A>T n.1183A>T n.2145A>T n.917A>T c.16559A>T (p.Lys5520Ile) c.482A>T (p.Lys161Ile) c.1104A>T (n.1104A>T) c.1665A>T c.16520A>T (p.Lys5507Ile) c.512A>T (p.Lys171Ile) c.16508A>T (p.Lys5503Ile) c.16511A>T (p.Lys5504Ile) c.554A>T (p.Lys185Ile) c.16568A>T (p.Lys5523Ile) c.16565A>T (p.Lys5522Ile) c.16556A>T (p.Lys5519Ile) c.16547A>T (p.Lys5516Ile) c.16502A>T (p.Lys5501Ile) c.16475A>T (p.Lys5492Ile) n.16688A>T | dbSNP |
| 12 | g.49022053T>C | CA6545361 | KMT2D | c.481A>G n.1183A>G n.2145A>G n.917A>G c.16559A>G (p.Lys5520Arg) c.482A>G (p.Lys161Arg) c.1104A>G (n.1104A>G) c.1665A>G c.16520A>G (p.Lys5507Arg) c.512A>G (p.Lys171Arg) c.16508A>G (p.Lys5503Arg) c.16511A>G (p.Lys5504Arg) c.554A>G (p.Lys185Arg) c.16568A>G (p.Lys5523Arg) c.16565A>G (p.Lys5522Arg) c.16556A>G (p.Lys5519Arg) c.16547A>G (p.Lys5516Arg) c.16502A>G (p.Lys5501Arg) c.16475A>G (p.Lys5492Arg) n.16688A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49022053T>G | CA384675687 | KMT2D | c.481A>C n.1183A>C n.2145A>C n.917A>C c.16559A>C (p.Lys5520Thr) c.482A>C (p.Lys161Thr) c.1104A>C (n.1104A>C) c.1665A>C c.16520A>C (p.Lys5507Thr) c.512A>C (p.Lys171Thr) c.16508A>C (p.Lys5503Thr) c.16511A>C (p.Lys5504Thr) c.554A>C (p.Lys185Thr) c.16568A>C (p.Lys5523Thr) c.16565A>C (p.Lys5522Thr) c.16556A>C (p.Lys5519Thr) c.16547A>C (p.Lys5516Thr) c.16502A>C (p.Lys5501Thr) c.16475A>C (p.Lys5492Thr) n.16688A>C | |
| 12 | g.49022053T= | CA2034962973 | KMT2D | c.481A= n.1183A= n.2145A= n.917A= c.16559A= (p.Lys5520=) c.482A= (p.Lys161=) c.1104A= (n.1104A=) c.1665A= c.16520A= (p.Lys5507=) c.512A= (p.Lys171=) c.16508A= (p.Lys5503=) c.16511A= (p.Lys5504=) c.554A= (p.Lys185=) c.16568A= (p.Lys5523=) c.16565A= (p.Lys5522=) c.16556A= (p.Lys5519=) c.16547A= (p.Lys5516=) c.16502A= (p.Lys5501=) c.16475A= (p.Lys5492=) n.16688A= | |
| 12 | g.49022054T>A | CA384675693 | KMT2D | c.480A>T n.1182A>T n.2144A>T n.916A>T c.16558A>T (p.Lys5520Ter) c.481A>T (p.Lys161Ter) c.1103A>T (n.1103A>T) c.1664A>T c.16519A>T (p.Lys5507Ter) c.511A>T (p.Lys171Ter) c.16507A>T (p.Lys5503Ter) c.16510A>T (p.Lys5504Ter) c.553A>T (p.Lys185Ter) c.16567A>T (p.Lys5523Ter) c.16564A>T (p.Lys5522Ter) c.16555A>T (p.Lys5519Ter) c.16546A>T (p.Lys5516Ter) c.16501A>T (p.Lys5501Ter) c.16474A>T (p.Lys5492Ter) n.16687A>T | |
| 12 | g.49022054T>C | CA384675695 | KMT2D | c.480A>G n.1182A>G n.2144A>G n.916A>G c.16558A>G (p.Lys5520Glu) c.481A>G (p.Lys161Glu) c.1103A>G (n.1103A>G) c.1664A>G c.16519A>G (p.Lys5507Glu) c.511A>G (p.Lys171Glu) c.16507A>G (p.Lys5503Glu) c.16510A>G (p.Lys5504Glu) c.553A>G (p.Lys185Glu) c.16567A>G (p.Lys5523Glu) c.16564A>G (p.Lys5522Glu) c.16555A>G (p.Lys5519Glu) c.16546A>G (p.Lys5516Glu) c.16501A>G (p.Lys5501Glu) c.16474A>G (p.Lys5492Glu) n.16687A>G | |
| 12 | g.49022054T>G | CA384675699 | KMT2D | c.480A>C n.1182A>C n.2144A>C n.916A>C c.16558A>C (p.Lys5520Gln) c.481A>C (p.Lys161Gln) c.1103A>C (n.1103A>C) c.1664A>C c.16519A>C (p.Lys5507Gln) c.511A>C (p.Lys171Gln) c.16507A>C (p.Lys5503Gln) c.16510A>C (p.Lys5504Gln) c.553A>C (p.Lys185Gln) c.16567A>C (p.Lys5523Gln) c.16564A>C (p.Lys5522Gln) c.16555A>C (p.Lys5519Gln) c.16546A>C (p.Lys5516Gln) c.16501A>C (p.Lys5501Gln) c.16474A>C (p.Lys5492Gln) n.16687A>C | |
| 12 | g.49022055G>A | CA479520838 | KMT2D | c.479C>T n.1181C>T n.2143C>T n.915C>T c.16557C>T (p.Pro5519=) c.480C>T (p.Pro160=) c.1102C>T (n.1102C>T) c.1663C>T c.16518C>T (p.Pro5506=) c.510C>T (p.Pro170=) c.16506C>T (p.Pro5502=) c.16509C>T (p.Pro5503=) c.552C>T (p.Pro184=) c.16566C>T (p.Pro5522=) c.16563C>T (p.Pro5521=) c.16554C>T (p.Pro5518=) c.16545C>T (p.Pro5515=) c.16500C>T (p.Pro5500=) c.16473C>T (p.Pro5491=) n.16686C>T | ClinVar dbSNP |
| 12 | g.49022055G>C | CA479520841 | KMT2D | c.479C>G n.1181C>G n.2143C>G n.915C>G c.16557C>G (p.Pro5519=) c.480C>G (p.Pro160=) c.1102C>G (n.1102C>G) c.1663C>G c.16518C>G (p.Pro5506=) c.510C>G (p.Pro170=) c.16506C>G (p.Pro5502=) c.16509C>G (p.Pro5503=) c.552C>G (p.Pro184=) c.16566C>G (p.Pro5522=) c.16563C>G (p.Pro5521=) c.16554C>G (p.Pro5518=) c.16545C>G (p.Pro5515=) c.16500C>G (p.Pro5500=) c.16473C>G (p.Pro5491=) n.16686C>G | dbSNP |
| 12 | g.49022055G>T | CA479520840 | KMT2D | c.479C>A n.1181C>A n.2143C>A n.915C>A c.16557C>A (p.Pro5519=) c.480C>A (p.Pro160=) c.1102C>A (n.1102C>A) c.1663C>A c.16518C>A (p.Pro5506=) c.510C>A (p.Pro170=) c.16506C>A (p.Pro5502=) c.16509C>A (p.Pro5503=) c.552C>A (p.Pro184=) c.16566C>A (p.Pro5522=) c.16563C>A (p.Pro5521=) c.16554C>A (p.Pro5518=) c.16545C>A (p.Pro5515=) c.16500C>A (p.Pro5500=) c.16473C>A (p.Pro5491=) n.16686C>A | dbSNP |
| 12 | g.49022058del | CA2726316251 | KMT2D | c.479del n.1181del n.2143del n.915del c.16557del (p.Gly5521GlufsTer4) c.480del (p.Gly162GlufsTer4) c.1102del (n.1102del) c.1663del c.16518del (p.Gly5508GlufsTer4) c.510del (p.Gly172GlufsTer4) c.16506del (p.Gly5504GlufsTer4) c.16509del (p.Gly5505GlufsTer4) c.552del (p.Gly186GlufsTer4) c.16566del (p.Gly5524GlufsTer4) c.16563del (p.Gly5523GlufsTer4) c.16554del (p.Gly5520GlufsTer4) c.16545del (p.Gly5517GlufsTer4) c.16500del (p.Gly5502GlufsTer4) c.16473del (p.Gly5493GlufsTer4) n.16686del | dbSNP |
| 12 | g.49022056G>A | CA384675702 | KMT2D | c.478C>T n.1180C>T n.2142C>T n.914C>T c.16556C>T (p.Pro5519Leu) c.479C>T (p.Pro160Leu) c.1101C>T (n.1101C>T) c.1662C>T c.16517C>T (p.Pro5506Leu) c.509C>T (p.Pro170Leu) c.16505C>T (p.Pro5502Leu) c.16508C>T (p.Pro5503Leu) c.551C>T (p.Pro184Leu) c.16565C>T (p.Pro5522Leu) c.16562C>T (p.Pro5521Leu) c.16553C>T (p.Pro5518Leu) c.16544C>T (p.Pro5515Leu) c.16499C>T (p.Pro5500Leu) c.16472C>T (p.Pro5491Leu) n.16685C>T | dbSNP |
| 12 | g.49022056G>C | CA384675704 | KMT2D | c.478C>G n.1180C>G n.2142C>G n.914C>G c.16556C>G (p.Pro5519Arg) c.479C>G (p.Pro160Arg) c.1101C>G (n.1101C>G) c.1662C>G c.16517C>G (p.Pro5506Arg) c.509C>G (p.Pro170Arg) c.16505C>G (p.Pro5502Arg) c.16508C>G (p.Pro5503Arg) c.551C>G (p.Pro184Arg) c.16565C>G (p.Pro5522Arg) c.16562C>G (p.Pro5521Arg) c.16553C>G (p.Pro5518Arg) c.16544C>G (p.Pro5515Arg) c.16499C>G (p.Pro5500Arg) c.16472C>G (p.Pro5491Arg) n.16685C>G | dbSNP |
| 12 | g.49022056G>T | CA384675705 | KMT2D | c.478C>A n.1180C>A n.2142C>A n.914C>A c.16556C>A (p.Pro5519His) c.479C>A (p.Pro160His) c.1101C>A (n.1101C>A) c.1662C>A c.16517C>A (p.Pro5506His) c.509C>A (p.Pro170His) c.16505C>A (p.Pro5502His) c.16508C>A (p.Pro5503His) c.551C>A (p.Pro184His) c.16565C>A (p.Pro5522His) c.16562C>A (p.Pro5521His) c.16553C>A (p.Pro5518His) c.16544C>A (p.Pro5515His) c.16499C>A (p.Pro5500His) c.16472C>A (p.Pro5491His) n.16685C>A | dbSNP |
| 12 | g.49022057G>A | CA384675706 | KMT2D | c.477C>T n.1179C>T n.2141C>T n.913C>T c.16555C>T (p.Pro5519Ser) c.478C>T (p.Pro160Ser) c.1100C>T (n.1100C>T) c.1661C>T c.16516C>T (p.Pro5506Ser) c.508C>T (p.Pro170Ser) c.16504C>T (p.Pro5502Ser) c.16507C>T (p.Pro5503Ser) c.550C>T (p.Pro184Ser) c.16564C>T (p.Pro5522Ser) c.16561C>T (p.Pro5521Ser) c.16552C>T (p.Pro5518Ser) c.16543C>T (p.Pro5515Ser) c.16498C>T (p.Pro5500Ser) c.16471C>T (p.Pro5491Ser) n.16684C>T | COSMIC COSMIC |
| 12 | g.49022057G>C | CA384675708 | KMT2D | c.477C>G n.1179C>G n.2141C>G n.913C>G c.16555C>G (p.Pro5519Ala) c.478C>G (p.Pro160Ala) c.1100C>G (n.1100C>G) c.1661C>G c.16516C>G (p.Pro5506Ala) c.508C>G (p.Pro170Ala) c.16504C>G (p.Pro5502Ala) c.16507C>G (p.Pro5503Ala) c.550C>G (p.Pro184Ala) c.16564C>G (p.Pro5522Ala) c.16561C>G (p.Pro5521Ala) c.16552C>G (p.Pro5518Ala) c.16543C>G (p.Pro5515Ala) c.16498C>G (p.Pro5500Ala) c.16471C>G (p.Pro5491Ala) n.16684C>G | dbSNP |
| 12 | g.49022057G>T | CA384675714 | KMT2D | c.477C>A n.1179C>A n.2141C>A n.913C>A c.16555C>A (p.Pro5519Thr) c.478C>A (p.Pro160Thr) c.1100C>A (n.1100C>A) c.1661C>A c.16516C>A (p.Pro5506Thr) c.508C>A (p.Pro170Thr) c.16504C>A (p.Pro5502Thr) c.16507C>A (p.Pro5503Thr) c.550C>A (p.Pro184Thr) c.16564C>A (p.Pro5522Thr) c.16561C>A (p.Pro5521Thr) c.16552C>A (p.Pro5518Thr) c.16543C>A (p.Pro5515Thr) c.16498C>A (p.Pro5500Thr) c.16471C>A (p.Pro5491Thr) n.16684C>A | dbSNP |
| 12 | g.49022058G>A | CA6545362 | KMT2D | c.476C>T n.1178C>T n.2140C>T n.912C>T c.16554C>T (p.Ile5518=) c.477C>T (p.Ile159=) c.1099C>T (n.1099C>T) c.1660C>T c.16515C>T (p.Ile5505=) c.507C>T (p.Ile169=) c.16503C>T (p.Ile5501=) c.16506C>T (p.Ile5502=) c.549C>T (p.Ile183=) c.16563C>T (p.Ile5521=) c.16560C>T (p.Ile5520=) c.16551C>T (p.Ile5517=) c.16542C>T (p.Ile5514=) c.16497C>T (p.Ile5499=) c.16470C>T (p.Ile5490=) n.16683C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49022058G>C | CA384675718 | KMT2D | c.476C>G n.1178C>G n.2140C>G n.912C>G c.16554C>G (p.Ile5518Met) c.477C>G (p.Ile159Met) c.1099C>G (n.1099C>G) c.1660C>G c.16515C>G (p.Ile5505Met) c.507C>G (p.Ile169Met) c.16503C>G (p.Ile5501Met) c.16506C>G (p.Ile5502Met) c.549C>G (p.Ile183Met) c.16563C>G (p.Ile5521Met) c.16560C>G (p.Ile5520Met) c.16551C>G (p.Ile5517Met) c.16542C>G (p.Ile5514Met) c.16497C>G (p.Ile5499Met) c.16470C>G (p.Ile5490Met) n.16683C>G | dbSNP |
| 12 | g.49022058G= | CA2034962974 | KMT2D | c.476C= n.1178C= n.2140C= n.912C= c.16554C= (p.Ile5518=) c.477C= (p.Ile159=) c.1099C= (n.1099C=) c.1660C= c.16515C= (p.Ile5505=) c.507C= (p.Ile169=) c.16503C= (p.Ile5501=) c.16506C= (p.Ile5502=) c.549C= (p.Ile183=) c.16563C= (p.Ile5521=) c.16560C= (p.Ile5520=) c.16551C= (p.Ile5517=) c.16542C= (p.Ile5514=) c.16497C= (p.Ile5499=) c.16470C= (p.Ile5490=) n.16683C= | |
| 12 | g.49022058G>T | CA479520844 | KMT2D | c.476C>A n.1178C>A n.2140C>A n.912C>A c.16554C>A (p.Ile5518=) c.477C>A (p.Ile159=) c.1099C>A (n.1099C>A) c.1660C>A c.16515C>A (p.Ile5505=) c.507C>A (p.Ile169=) c.16503C>A (p.Ile5501=) c.16506C>A (p.Ile5502=) c.549C>A (p.Ile183=) c.16563C>A (p.Ile5521=) c.16560C>A (p.Ile5520=) c.16551C>A (p.Ile5517=) c.16542C>A (p.Ile5514=) c.16497C>A (p.Ile5499=) c.16470C>A (p.Ile5490=) n.16683C>A | |
| 12 | g.49022059A>C | CA384675724 | KMT2D | c.475T>G n.1177T>G n.2139T>G n.911T>G c.16553T>G (p.Ile5518Ser) c.476T>G (p.Ile159Ser) c.1098T>G (n.1098T>G) c.1659T>G c.16514T>G (p.Ile5505Ser) c.506T>G (p.Ile169Ser) c.16502T>G (p.Ile5501Ser) c.16505T>G (p.Ile5502Ser) c.548T>G (p.Ile183Ser) c.16562T>G (p.Ile5521Ser) c.16559T>G (p.Ile5520Ser) c.16550T>G (p.Ile5517Ser) c.16541T>G (p.Ile5514Ser) c.16496T>G (p.Ile5499Ser) c.16469T>G (p.Ile5490Ser) n.16682T>G | dbSNP |
| 12 | g.49022059A>G | CA384675720 | KMT2D | c.475T>C n.1177T>C n.2139T>C n.911T>C c.16553T>C (p.Ile5518Thr) c.476T>C (p.Ile159Thr) c.1098T>C (n.1098T>C) c.1659T>C c.16514T>C (p.Ile5505Thr) c.506T>C (p.Ile169Thr) c.16502T>C (p.Ile5501Thr) c.16505T>C (p.Ile5502Thr) c.548T>C (p.Ile183Thr) c.16562T>C (p.Ile5521Thr) c.16559T>C (p.Ile5520Thr) c.16550T>C (p.Ile5517Thr) c.16541T>C (p.Ile5514Thr) c.16496T>C (p.Ile5499Thr) c.16469T>C (p.Ile5490Thr) n.16682T>C | |
| 12 | g.49022059A>T | CA384675722 | KMT2D | c.475T>A n.1177T>A n.2139T>A n.911T>A c.16553T>A (p.Ile5518Asn) c.476T>A (p.Ile159Asn) c.1098T>A (n.1098T>A) c.1659T>A c.16514T>A (p.Ile5505Asn) c.506T>A (p.Ile169Asn) c.16502T>A (p.Ile5501Asn) c.16505T>A (p.Ile5502Asn) c.548T>A (p.Ile183Asn) c.16562T>A (p.Ile5521Asn) c.16559T>A (p.Ile5520Asn) c.16550T>A (p.Ile5517Asn) c.16541T>A (p.Ile5514Asn) c.16496T>A (p.Ile5499Asn) c.16469T>A (p.Ile5490Asn) n.16682T>A | dbSNP |
| 12 | g.49022060T>A | CA384675727 | KMT2D | c.474A>T n.1176A>T n.2138A>T n.910A>T c.16552A>T (p.Ile5518Phe) c.475A>T (p.Ile159Phe) c.1097A>T (n.1097A>T) c.1658A>T c.16513A>T (p.Ile5505Phe) c.505A>T (p.Ile169Phe) c.16501A>T (p.Ile5501Phe) c.16504A>T (p.Ile5502Phe) c.547A>T (p.Ile183Phe) c.16561A>T (p.Ile5521Phe) c.16558A>T (p.Ile5520Phe) c.16549A>T (p.Ile5517Phe) c.16540A>T (p.Ile5514Phe) c.16495A>T (p.Ile5499Phe) c.16468A>T (p.Ile5490Phe) n.16681A>T | dbSNP |
| 12 | g.49022060T>C | CA384675728 | KMT2D | c.474A>G n.1176A>G n.2138A>G n.910A>G c.16552A>G (p.Ile5518Val) c.475A>G (p.Ile159Val) c.1097A>G (n.1097A>G) c.1658A>G c.16513A>G (p.Ile5505Val) c.505A>G (p.Ile169Val) c.16501A>G (p.Ile5501Val) c.16504A>G (p.Ile5502Val) c.547A>G (p.Ile183Val) c.16561A>G (p.Ile5521Val) c.16558A>G (p.Ile5520Val) c.16549A>G (p.Ile5517Val) c.16540A>G (p.Ile5514Val) c.16495A>G (p.Ile5499Val) c.16468A>G (p.Ile5490Val) n.16681A>G | dbSNP |
| 12 | g.49022060T>G | CA384675730 | KMT2D | c.474A>C n.1176A>C n.2138A>C n.910A>C c.16552A>C (p.Ile5518Leu) c.475A>C (p.Ile159Leu) c.1097A>C (n.1097A>C) c.1658A>C c.16513A>C (p.Ile5505Leu) c.505A>C (p.Ile169Leu) c.16501A>C (p.Ile5501Leu) c.16504A>C (p.Ile5502Leu) c.547A>C (p.Ile183Leu) c.16561A>C (p.Ile5521Leu) c.16558A>C (p.Ile5520Leu) c.16549A>C (p.Ile5517Leu) c.16540A>C (p.Ile5514Leu) c.16495A>C (p.Ile5499Leu) c.16468A>C (p.Ile5490Leu) n.16681A>C | |
| 12 | g.49022060T= | CA2034962976 | KMT2D | c.474A= n.1176A= n.2138A= n.910A= c.16552A= (p.Ile5518=) c.475A= (p.Ile159=) c.1097A= (n.1097A=) c.1658A= c.16513A= (p.Ile5505=) c.505A= (p.Ile169=) c.16501A= (p.Ile5501=) c.16504A= (p.Ile5502=) c.547A= (p.Ile183=) c.16561A= (p.Ile5521=) c.16558A= (p.Ile5520=) c.16549A= (p.Ile5517=) c.16540A= (p.Ile5514=) c.16495A= (p.Ile5499=) c.16468A= (p.Ile5490=) n.16681A= | |
| 12 | g.49022061T>A | CA479520846 | KMT2D | c.473A>T n.1175A>T n.2137A>T n.909A>T c.16551A>T (p.Arg5517=) c.474A>T (p.Arg158=) c.1096A>T (n.1096A>T) c.1657A>T c.16512A>T (p.Arg5504=) c.504A>T (p.Arg168=) c.16500A>T (p.Arg5500=) c.16503A>T (p.Arg5501=) c.546A>T (p.Arg182=) c.16560A>T (p.Arg5520=) c.16557A>T (p.Arg5519=) c.16548A>T (p.Arg5516=) c.16539A>T (p.Arg5513=) c.16494A>T (p.Arg5498=) c.16467A>T (p.Arg5489=) n.16680A>T | dbSNP |
| 12 | g.49022061T>C | CA479520848 | KMT2D | c.473A>G n.1175A>G n.2137A>G n.909A>G c.16551A>G (p.Arg5517=) c.474A>G (p.Arg158=) c.1096A>G (n.1096A>G) c.1657A>G c.16512A>G (p.Arg5504=) c.504A>G (p.Arg168=) c.16500A>G (p.Arg5500=) c.16503A>G (p.Arg5501=) c.546A>G (p.Arg182=) c.16560A>G (p.Arg5520=) c.16557A>G (p.Arg5519=) c.16548A>G (p.Arg5516=) c.16539A>G (p.Arg5513=) c.16494A>G (p.Arg5498=) c.16467A>G (p.Arg5489=) n.16680A>G | |
| 12 | g.49022061T>G | CA479520847 | KMT2D | c.473A>C n.1175A>C n.2137A>C n.909A>C c.16551A>C (p.Arg5517=) c.474A>C (p.Arg158=) c.1096A>C (n.1096A>C) c.1657A>C c.16512A>C (p.Arg5504=) c.504A>C (p.Arg168=) c.16500A>C (p.Arg5500=) c.16503A>C (p.Arg5501=) c.546A>C (p.Arg182=) c.16560A>C (p.Arg5520=) c.16557A>C (p.Arg5519=) c.16548A>C (p.Arg5516=) c.16539A>C (p.Arg5513=) c.16494A>C (p.Arg5498=) c.16467A>C (p.Arg5489=) n.16680A>C | |
| 12 | g.49022062C>A | CA384675733 | KMT2D | c.472G>T n.1174G>T n.2136G>T n.908G>T c.16550G>T (p.Arg5517Leu) c.473G>T (p.Arg158Leu) c.1095G>T (n.1095G>T) c.1656G>T c.16511G>T (p.Arg5504Leu) c.503G>T (p.Arg168Leu) c.16499G>T (p.Arg5500Leu) c.16502G>T (p.Arg5501Leu) c.545G>T (p.Arg182Leu) c.16559G>T (p.Arg5520Leu) c.16556G>T (p.Arg5519Leu) c.16547G>T (p.Arg5516Leu) c.16538G>T (p.Arg5513Leu) c.16493G>T (p.Arg5498Leu) c.16466G>T (p.Arg5489Leu) n.16679G>T | |
| 12 | g.49022062C>G | CA384675735 | KMT2D | c.472G>C n.1174G>C n.2136G>C n.908G>C c.16550G>C (p.Arg5517Pro) c.473G>C (p.Arg158Pro) c.1095G>C (n.1095G>C) c.1656G>C c.16511G>C (p.Arg5504Pro) c.503G>C (p.Arg168Pro) c.16499G>C (p.Arg5500Pro) c.16502G>C (p.Arg5501Pro) c.545G>C (p.Arg182Pro) c.16559G>C (p.Arg5520Pro) c.16556G>C (p.Arg5519Pro) c.16547G>C (p.Arg5516Pro) c.16538G>C (p.Arg5513Pro) c.16493G>C (p.Arg5498Pro) c.16466G>C (p.Arg5489Pro) n.16679G>C | dbSNP |
| 12 | g.49022062C>T | CA384675737 | KMT2D | c.472G>A n.1174G>A n.2136G>A n.908G>A c.16550G>A (p.Arg5517Gln) c.473G>A (p.Arg158Gln) c.1095G>A (n.1095G>A) c.1656G>A c.16511G>A (p.Arg5504Gln) c.503G>A (p.Arg168Gln) c.16499G>A (p.Arg5500Gln) c.16502G>A (p.Arg5501Gln) c.545G>A (p.Arg182Gln) c.16559G>A (p.Arg5520Gln) c.16556G>A (p.Arg5519Gln) c.16547G>A (p.Arg5516Gln) c.16538G>A (p.Arg5513Gln) c.16493G>A (p.Arg5498Gln) c.16466G>A (p.Arg5489Gln) n.16679G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.49022063G>A | CA10603301 | KMT2D | c.471C>T n.1173C>T n.2135C>T n.907C>T c.16549C>T (p.Arg5517Ter) c.472C>T (p.Arg158Ter) c.1094C>T (n.1094C>T) c.1655C>T c.16510C>T (p.Arg5504Ter) c.502C>T (p.Arg168Ter) c.16498C>T (p.Arg5500Ter) c.16501C>T (p.Arg5501Ter) c.544C>T (p.Arg182Ter) c.16558C>T (p.Arg5520Ter) c.16555C>T (p.Arg5519Ter) c.16546C>T (p.Arg5516Ter) c.16537C>T (p.Arg5513Ter) c.16492C>T (p.Arg5498Ter) c.16465C>T (p.Arg5489Ter) n.16678C>T | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49022063G>C | CA384675742 | KMT2D | c.471C>G n.1173C>G n.2135C>G n.907C>G c.16549C>G (p.Arg5517Gly) c.472C>G (p.Arg158Gly) c.1094C>G (n.1094C>G) c.1655C>G c.16510C>G (p.Arg5504Gly) c.502C>G (p.Arg168Gly) c.16498C>G (p.Arg5500Gly) c.16501C>G (p.Arg5501Gly) c.544C>G (p.Arg182Gly) c.16558C>G (p.Arg5520Gly) c.16555C>G (p.Arg5519Gly) c.16546C>G (p.Arg5516Gly) c.16537C>G (p.Arg5513Gly) c.16492C>G (p.Arg5498Gly) c.16465C>G (p.Arg5489Gly) n.16678C>G | dbSNP |
| 12 | g.49022063G= | CA2034962978 | KMT2D | c.471C= n.1173C= n.2135C= n.907C= c.16549C= (p.Arg5517=) c.472C= (p.Arg158=) c.1094C= (n.1094C=) c.1655C= c.16510C= (p.Arg5504=) c.502C= (p.Arg168=) c.16498C= (p.Arg5500=) c.16501C= (p.Arg5501=) c.544C= (p.Arg182=) c.16558C= (p.Arg5520=) c.16555C= (p.Arg5519=) c.16546C= (p.Arg5516=) c.16537C= (p.Arg5513=) c.16492C= (p.Arg5498=) c.16465C= (p.Arg5489=) n.16678C= | |
| 12 | g.49022063G>T | CA479520850 | KMT2D | c.471C>A n.1173C>A n.2135C>A n.907C>A c.16549C>A (p.Arg5517=) c.472C>A (p.Arg158=) c.1094C>A (n.1094C>A) c.1655C>A c.16510C>A (p.Arg5504=) c.502C>A (p.Arg168=) c.16498C>A (p.Arg5500=) c.16501C>A (p.Arg5501=) c.544C>A (p.Arg182=) c.16558C>A (p.Arg5520=) c.16555C>A (p.Arg5519=) c.16546C>A (p.Arg5516=) c.16537C>A (p.Arg5513=) c.16492C>A (p.Arg5498=) c.16465C>A (p.Arg5489=) n.16678C>A | |
| 12 | g.49022064C>A | CA479520851 | KMT2D | c.470G>T n.1172G>T n.2134G>T n.906G>T c.16548G>T (p.Arg5516=) c.471G>T (p.Arg157=) c.1093G>T (n.1093G>T) c.1654G>T c.16509G>T (p.Arg5503=) c.501G>T (p.Arg167=) c.16497G>T (p.Arg5499=) c.16500G>T (p.Arg5500=) c.543G>T (p.Arg181=) c.16557G>T (p.Arg5519=) c.16554G>T (p.Arg5518=) c.16545G>T (p.Arg5515=) c.16536G>T (p.Arg5512=) c.16491G>T (p.Arg5497=) c.16464G>T (p.Arg5488=) n.16677G>T | |
| 12 | g.49022064C>G | CA479520852 | KMT2D | c.470G>C n.1172G>C n.2134G>C n.906G>C c.16548G>C (p.Arg5516=) c.471G>C (p.Arg157=) c.1093G>C (n.1093G>C) c.1654G>C c.16509G>C (p.Arg5503=) c.501G>C (p.Arg167=) c.16497G>C (p.Arg5499=) c.16500G>C (p.Arg5500=) c.543G>C (p.Arg181=) c.16557G>C (p.Arg5519=) c.16554G>C (p.Arg5518=) c.16545G>C (p.Arg5515=) c.16536G>C (p.Arg5512=) c.16491G>C (p.Arg5497=) c.16464G>C (p.Arg5488=) n.16677G>C | dbSNP |
| 12 | g.49022064C>T | CA479520853 | KMT2D | c.470G>A n.1172G>A n.2134G>A n.906G>A c.16548G>A (p.Arg5516=) c.471G>A (p.Arg157=) c.1093G>A (n.1093G>A) c.1654G>A c.16509G>A (p.Arg5503=) c.501G>A (p.Arg167=) c.16497G>A (p.Arg5499=) c.16500G>A (p.Arg5500=) c.543G>A (p.Arg181=) c.16557G>A (p.Arg5519=) c.16554G>A (p.Arg5518=) c.16545G>A (p.Arg5515=) c.16536G>A (p.Arg5512=) c.16491G>A (p.Arg5497=) c.16464G>A (p.Arg5488=) n.16677G>A | dbSNP |
| 12 | g.49022065del | CA2580085573 | KMT2D | c.470del n.1172del n.2134del n.906del c.16548del (p.Arg5517GlufsTer8) c.471del (p.Arg158GlufsTer8) c.1093del (n.1093del) c.1654del c.16509del (p.Arg5504GlufsTer8) c.501del (p.Arg168GlufsTer8) c.16497del (p.Arg5500GlufsTer8) c.16500del (p.Arg5501GlufsTer8) c.543del (p.Arg182GlufsTer8) c.16557del (p.Arg5520GlufsTer8) c.16554del (p.Arg5519GlufsTer8) c.16545del (p.Arg5516GlufsTer8) c.16536del (p.Arg5513GlufsTer8) c.16491del (p.Arg5498GlufsTer8) c.16464del (p.Arg5489GlufsTer8) n.16677del | ClinVar |
| 12 | g.49022065C>A | CA384675747 | KMT2D | c.469G>T n.1171G>T n.2133G>T n.905G>T c.16547G>T (p.Arg5516Leu) c.470G>T (p.Arg157Leu) c.1092G>T (n.1092G>T) c.1653G>T c.16508G>T (p.Arg5503Leu) c.500G>T (p.Arg167Leu) c.16496G>T (p.Arg5499Leu) c.16499G>T (p.Arg5500Leu) c.542G>T (p.Arg181Leu) c.16556G>T (p.Arg5519Leu) c.16553G>T (p.Arg5518Leu) c.16544G>T (p.Arg5515Leu) c.16535G>T (p.Arg5512Leu) c.16490G>T (p.Arg5497Leu) c.16463G>T (p.Arg5488Leu) n.16676G>T | |
| 12 | g.49022065C= | CA2034962979 | KMT2D | c.469G= n.1171G= n.2133G= n.905G= c.16547G= (p.Arg5516=) c.470G= (p.Arg157=) c.1092G= (n.1092G=) c.1653G= c.16508G= (p.Arg5503=) c.500G= (p.Arg167=) c.16496G= (p.Arg5499=) c.16499G= (p.Arg5500=) c.542G= (p.Arg181=) c.16556G= (p.Arg5519=) c.16553G= (p.Arg5518=) c.16544G= (p.Arg5515=) c.16535G= (p.Arg5512=) c.16490G= (p.Arg5497=) c.16463G= (p.Arg5488=) n.16676G= | |
| 12 | g.49022065C>G | CA384675749 | KMT2D | c.469G>C n.1171G>C n.2133G>C n.905G>C c.16547G>C (p.Arg5516Pro) c.470G>C (p.Arg157Pro) c.1092G>C (n.1092G>C) c.1653G>C c.16508G>C (p.Arg5503Pro) c.500G>C (p.Arg167Pro) c.16496G>C (p.Arg5499Pro) c.16499G>C (p.Arg5500Pro) c.542G>C (p.Arg181Pro) c.16556G>C (p.Arg5519Pro) c.16553G>C (p.Arg5518Pro) c.16544G>C (p.Arg5515Pro) c.16535G>C (p.Arg5512Pro) c.16490G>C (p.Arg5497Pro) c.16463G>C (p.Arg5488Pro) n.16676G>C | |
| 12 | g.49022065C>T | CA6545363 | KMT2D | c.469G>A n.1171G>A n.2133G>A n.905G>A c.16547G>A (p.Arg5516Gln) c.470G>A (p.Arg157Gln) c.1092G>A (n.1092G>A) c.1653G>A c.16508G>A (p.Arg5503Gln) c.500G>A (p.Arg167Gln) c.16496G>A (p.Arg5499Gln) c.16499G>A (p.Arg5500Gln) c.542G>A (p.Arg181Gln) c.16556G>A (p.Arg5519Gln) c.16553G>A (p.Arg5518Gln) c.16544G>A (p.Arg5515Gln) c.16535G>A (p.Arg5512Gln) c.16490G>A (p.Arg5497Gln) c.16463G>A (p.Arg5488Gln) n.16676G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022066G>A | CA384675752 | KMT2D | c.468C>T n.1170C>T n.2132C>T n.904C>T c.16546C>T (p.Arg5516Trp) c.469C>T (p.Arg157Trp) c.1091C>T (n.1091C>T) c.1652C>T c.16507C>T (p.Arg5503Trp) c.499C>T (p.Arg167Trp) c.16495C>T (p.Arg5499Trp) c.16498C>T (p.Arg5500Trp) c.541C>T (p.Arg181Trp) c.16555C>T (p.Arg5519Trp) c.16552C>T (p.Arg5518Trp) c.16543C>T (p.Arg5515Trp) c.16534C>T (p.Arg5512Trp) c.16489C>T (p.Arg5497Trp) c.16462C>T (p.Arg5488Trp) n.16675C>T | ClinVar dbSNP |
| 12 | g.49022066G>C | CA384675754 | KMT2D | c.468C>G n.1170C>G n.2132C>G n.904C>G c.16546C>G (p.Arg5516Gly) c.469C>G (p.Arg157Gly) c.1091C>G (n.1091C>G) c.1652C>G c.16507C>G (p.Arg5503Gly) c.499C>G (p.Arg167Gly) c.16495C>G (p.Arg5499Gly) c.16498C>G (p.Arg5500Gly) c.541C>G (p.Arg181Gly) c.16555C>G (p.Arg5519Gly) c.16552C>G (p.Arg5518Gly) c.16543C>G (p.Arg5515Gly) c.16534C>G (p.Arg5512Gly) c.16489C>G (p.Arg5497Gly) c.16462C>G (p.Arg5488Gly) n.16675C>G | dbSNP |
| 12 | g.49022066G= | CA2034962981 | KMT2D | c.468C= n.1170C= n.2132C= n.904C= c.16546C= (p.Arg5516=) c.469C= (p.Arg157=) c.1091C= (n.1091C=) c.1652C= c.16507C= (p.Arg5503=) c.499C= (p.Arg167=) c.16495C= (p.Arg5499=) c.16498C= (p.Arg5500=) c.541C= (p.Arg181=) c.16555C= (p.Arg5519=) c.16552C= (p.Arg5518=) c.16543C= (p.Arg5515=) c.16534C= (p.Arg5512=) c.16489C= (p.Arg5497=) c.16462C= (p.Arg5488=) n.16675C= | |
| 12 | g.49022066G>T | CA479520855 | KMT2D | c.468C>A n.1170C>A n.2132C>A n.904C>A c.16546C>A (p.Arg5516=) c.469C>A (p.Arg157=) c.1091C>A (n.1091C>A) c.1652C>A c.16507C>A (p.Arg5503=) c.499C>A (p.Arg167=) c.16495C>A (p.Arg5499=) c.16498C>A (p.Arg5500=) c.541C>A (p.Arg181=) c.16555C>A (p.Arg5519=) c.16552C>A (p.Arg5518=) c.16543C>A (p.Arg5515=) c.16534C>A (p.Arg5512=) c.16489C>A (p.Arg5497=) c.16462C>A (p.Arg5488=) n.16675C>A | |
| 12 | g.49022067G>A | CA479520856 | KMT2D | c.467C>T n.1169C>T n.2131C>T n.903C>T c.16545C>T (p.Ser5515=) c.468C>T (p.Ser156=) c.1090C>T (n.1090C>T) c.1651C>T c.16506C>T (p.Ser5502=) c.498C>T (p.Ser166=) c.16494C>T (p.Ser5498=) c.16497C>T (p.Ser5499=) c.540C>T (p.Ser180=) c.16554C>T (p.Ser5518=) c.16551C>T (p.Ser5517=) c.16542C>T (p.Ser5514=) c.16533C>T (p.Ser5511=) c.16488C>T (p.Ser5496=) c.16461C>T (p.Ser5487=) n.16674C>T | dbSNP gnomAD v2 |
| 12 | g.49022067G>C | CA384675760 | KMT2D | c.467C>G n.1169C>G n.2131C>G n.903C>G c.16545C>G (p.Ser5515Arg) c.468C>G (p.Ser156Arg) c.1090C>G (n.1090C>G) c.1651C>G c.16506C>G (p.Ser5502Arg) c.498C>G (p.Ser166Arg) c.16494C>G (p.Ser5498Arg) c.16497C>G (p.Ser5499Arg) c.540C>G (p.Ser180Arg) c.16554C>G (p.Ser5518Arg) c.16551C>G (p.Ser5517Arg) c.16542C>G (p.Ser5514Arg) c.16533C>G (p.Ser5511Arg) c.16488C>G (p.Ser5496Arg) c.16461C>G (p.Ser5487Arg) n.16674C>G | dbSNP |
| 12 | g.49022067G= | CA2034962983 | KMT2D | c.467C= n.1169C= n.2131C= n.903C= c.16545C= (p.Ser5515=) c.468C= (p.Ser156=) c.1090C= (n.1090C=) c.1651C= c.16506C= (p.Ser5502=) c.498C= (p.Ser166=) c.16494C= (p.Ser5498=) c.16497C= (p.Ser5499=) c.540C= (p.Ser180=) c.16554C= (p.Ser5518=) c.16551C= (p.Ser5517=) c.16542C= (p.Ser5514=) c.16533C= (p.Ser5511=) c.16488C= (p.Ser5496=) c.16461C= (p.Ser5487=) n.16674C= | |
| 12 | g.49022067G>T | CA384675763 | KMT2D | c.467C>A n.1169C>A n.2131C>A n.903C>A c.16545C>A (p.Ser5515Arg) c.468C>A (p.Ser156Arg) c.1090C>A (n.1090C>A) c.1651C>A c.16506C>A (p.Ser5502Arg) c.498C>A (p.Ser166Arg) c.16494C>A (p.Ser5498Arg) c.16497C>A (p.Ser5499Arg) c.540C>A (p.Ser180Arg) c.16554C>A (p.Ser5518Arg) c.16551C>A (p.Ser5517Arg) c.16542C>A (p.Ser5514Arg) c.16533C>A (p.Ser5511Arg) c.16488C>A (p.Ser5496Arg) c.16461C>A (p.Ser5487Arg) n.16674C>A | dbSNP |
| 12 | g.49022068C>A | CA384675765 | KMT2D | c.466G>T n.1168G>T n.2130G>T n.902G>T c.16544G>T (p.Ser5515Ile) c.467G>T (p.Ser156Ile) c.1089G>T (n.1089G>T) c.1650G>T c.16505G>T (p.Ser5502Ile) c.497G>T (p.Ser166Ile) c.16493G>T (p.Ser5498Ile) c.16496G>T (p.Ser5499Ile) c.539G>T (p.Ser180Ile) c.16553G>T (p.Ser5518Ile) c.16550G>T (p.Ser5517Ile) c.16541G>T (p.Ser5514Ile) c.16532G>T (p.Ser5511Ile) c.16487G>T (p.Ser5496Ile) c.16460G>T (p.Ser5487Ile) n.16673G>T | dbSNP |
| 12 | g.49022068C>G | CA384675766 | KMT2D | c.466G>C n.1168G>C n.2130G>C n.902G>C c.16544G>C (p.Ser5515Thr) c.467G>C (p.Ser156Thr) c.1089G>C (n.1089G>C) c.1650G>C c.16505G>C (p.Ser5502Thr) c.497G>C (p.Ser166Thr) c.16493G>C (p.Ser5498Thr) c.16496G>C (p.Ser5499Thr) c.539G>C (p.Ser180Thr) c.16553G>C (p.Ser5518Thr) c.16550G>C (p.Ser5517Thr) c.16541G>C (p.Ser5514Thr) c.16532G>C (p.Ser5511Thr) c.16487G>C (p.Ser5496Thr) c.16460G>C (p.Ser5487Thr) n.16673G>C | dbSNP |
| 12 | g.49022068C>T | CA384675768 | KMT2D | c.466G>A n.1168G>A n.2130G>A n.902G>A c.16544G>A (p.Ser5515Asn) c.467G>A (p.Ser156Asn) c.1089G>A (n.1089G>A) c.1650G>A c.16505G>A (p.Ser5502Asn) c.497G>A (p.Ser166Asn) c.16493G>A (p.Ser5498Asn) c.16496G>A (p.Ser5499Asn) c.539G>A (p.Ser180Asn) c.16553G>A (p.Ser5518Asn) c.16550G>A (p.Ser5517Asn) c.16541G>A (p.Ser5514Asn) c.16532G>A (p.Ser5511Asn) c.16487G>A (p.Ser5496Asn) c.16460G>A (p.Ser5487Asn) n.16673G>A | dbSNP |
| 12 | g.49022069T>A | CA384675770 | KMT2D | c.465A>T n.1167A>T n.2129A>T n.901A>T c.16543A>T (p.Ser5515Cys) c.466A>T (p.Ser156Cys) c.1088A>T (n.1088A>T) c.1649A>T c.16504A>T (p.Ser5502Cys) c.496A>T (p.Ser166Cys) c.16492A>T (p.Ser5498Cys) c.16495A>T (p.Ser5499Cys) c.538A>T (p.Ser180Cys) c.16552A>T (p.Ser5518Cys) c.16549A>T (p.Ser5517Cys) c.16540A>T (p.Ser5514Cys) c.16531A>T (p.Ser5511Cys) c.16486A>T (p.Ser5496Cys) c.16459A>T (p.Ser5487Cys) n.16672A>T | |
| 12 | g.49022069T>C | CA384675771 | KMT2D | c.465A>G n.1167A>G n.2129A>G n.901A>G c.16543A>G (p.Ser5515Gly) c.466A>G (p.Ser156Gly) c.1088A>G (n.1088A>G) c.1649A>G c.16504A>G (p.Ser5502Gly) c.496A>G (p.Ser166Gly) c.16492A>G (p.Ser5498Gly) c.16495A>G (p.Ser5499Gly) c.538A>G (p.Ser180Gly) c.16552A>G (p.Ser5518Gly) c.16549A>G (p.Ser5517Gly) c.16540A>G (p.Ser5514Gly) c.16531A>G (p.Ser5511Gly) c.16486A>G (p.Ser5496Gly) c.16459A>G (p.Ser5487Gly) n.16672A>G | |
| 12 | g.49022069T>G | CA384675773 | KMT2D | c.465A>C n.1167A>C n.2129A>C n.901A>C c.16543A>C (p.Ser5515Arg) c.466A>C (p.Ser156Arg) c.1088A>C (n.1088A>C) c.1649A>C c.16504A>C (p.Ser5502Arg) c.496A>C (p.Ser166Arg) c.16492A>C (p.Ser5498Arg) c.16495A>C (p.Ser5499Arg) c.538A>C (p.Ser180Arg) c.16552A>C (p.Ser5518Arg) c.16549A>C (p.Ser5517Arg) c.16540A>C (p.Ser5514Arg) c.16531A>C (p.Ser5511Arg) c.16486A>C (p.Ser5496Arg) c.16459A>C (p.Ser5487Arg) n.16672A>C | |
| 12 | g.49022070G>A | CA479520859 | KMT2D | c.464C>T n.1166C>T n.2128C>T n.900C>T c.16542C>T (p.Ser5514=) c.465C>T (p.Ser155=) c.1087C>T (n.1087C>T) c.1648C>T c.16503C>T (p.Ser5501=) c.495C>T (p.Ser165=) c.16491C>T (p.Ser5497=) c.16494C>T (p.Ser5498=) c.537C>T (p.Ser179=) c.16551C>T (p.Ser5517=) c.16548C>T (p.Ser5516=) c.16539C>T (p.Ser5513=) c.16530C>T (p.Ser5510=) c.16485C>T (p.Ser5495=) c.16458C>T (p.Ser5486=) n.16671C>T | dbSNP |
| 12 | g.49022070G>C | CA479520857 | KMT2D | c.464C>G n.1166C>G n.2128C>G n.900C>G c.16542C>G (p.Ser5514=) c.465C>G (p.Ser155=) c.1087C>G (n.1087C>G) c.1648C>G c.16503C>G (p.Ser5501=) c.495C>G (p.Ser165=) c.16491C>G (p.Ser5497=) c.16494C>G (p.Ser5498=) c.537C>G (p.Ser179=) c.16551C>G (p.Ser5517=) c.16548C>G (p.Ser5516=) c.16539C>G (p.Ser5513=) c.16530C>G (p.Ser5510=) c.16485C>G (p.Ser5495=) c.16458C>G (p.Ser5486=) n.16671C>G | dbSNP |
| 12 | g.49022070G>T | CA479520858 | KMT2D | c.464C>A n.1166C>A n.2128C>A n.900C>A c.16542C>A (p.Ser5514=) c.465C>A (p.Ser155=) c.1087C>A (n.1087C>A) c.1648C>A c.16503C>A (p.Ser5501=) c.495C>A (p.Ser165=) c.16491C>A (p.Ser5497=) c.16494C>A (p.Ser5498=) c.537C>A (p.Ser179=) c.16551C>A (p.Ser5517=) c.16548C>A (p.Ser5516=) c.16539C>A (p.Ser5513=) c.16530C>A (p.Ser5510=) c.16485C>A (p.Ser5495=) c.16458C>A (p.Ser5486=) n.16671C>A | dbSNP |
| 12 | g.49022071G>A | CA384675780 | KMT2D | c.463C>T n.1165C>T n.2127C>T n.899C>T c.16541C>T (p.Ser5514Phe) c.464C>T (p.Ser155Phe) c.1086C>T (n.1086C>T) c.1647C>T c.16502C>T (p.Ser5501Phe) c.494C>T (p.Ser165Phe) c.16490C>T (p.Ser5497Phe) c.16493C>T (p.Ser5498Phe) c.536C>T (p.Ser179Phe) c.16550C>T (p.Ser5517Phe) c.16547C>T (p.Ser5516Phe) c.16538C>T (p.Ser5513Phe) c.16529C>T (p.Ser5510Phe) c.16484C>T (p.Ser5495Phe) c.16457C>T (p.Ser5486Phe) n.16670C>T | dbSNP |
| 12 | g.49022071G>C | CA384675776 | KMT2D | c.463C>G n.1165C>G n.2127C>G n.899C>G c.16541C>G (p.Ser5514Cys) c.464C>G (p.Ser155Cys) c.1086C>G (n.1086C>G) c.1647C>G c.16502C>G (p.Ser5501Cys) c.494C>G (p.Ser165Cys) c.16490C>G (p.Ser5497Cys) c.16493C>G (p.Ser5498Cys) c.536C>G (p.Ser179Cys) c.16550C>G (p.Ser5517Cys) c.16547C>G (p.Ser5516Cys) c.16538C>G (p.Ser5513Cys) c.16529C>G (p.Ser5510Cys) c.16484C>G (p.Ser5495Cys) c.16457C>G (p.Ser5486Cys) n.16670C>G | dbSNP gnomAD v4 |
| 12 | g.49022071G>T | CA384675778 | KMT2D | c.463C>A n.1165C>A n.2127C>A n.899C>A c.16541C>A (p.Ser5514Tyr) c.464C>A (p.Ser155Tyr) c.1086C>A (n.1086C>A) c.1647C>A c.16502C>A (p.Ser5501Tyr) c.494C>A (p.Ser165Tyr) c.16490C>A (p.Ser5497Tyr) c.16493C>A (p.Ser5498Tyr) c.536C>A (p.Ser179Tyr) c.16550C>A (p.Ser5517Tyr) c.16547C>A (p.Ser5516Tyr) c.16538C>A (p.Ser5513Tyr) c.16529C>A (p.Ser5510Tyr) c.16484C>A (p.Ser5495Tyr) c.16457C>A (p.Ser5486Tyr) n.16670C>A | |
| 12 | g.49022072A>C | CA384675782 | KMT2D | c.462T>G n.1164T>G n.2126T>G n.898T>G c.16540T>G (p.Ser5514Ala) c.463T>G (p.Ser155Ala) c.1085T>G (n.1085T>G) c.1646T>G c.16501T>G (p.Ser5501Ala) c.493T>G (p.Ser165Ala) c.16489T>G (p.Ser5497Ala) c.16492T>G (p.Ser5498Ala) c.535T>G (p.Ser179Ala) c.16549T>G (p.Ser5517Ala) c.16546T>G (p.Ser5516Ala) c.16537T>G (p.Ser5513Ala) c.16528T>G (p.Ser5510Ala) c.16483T>G (p.Ser5495Ala) c.16456T>G (p.Ser5486Ala) n.16669T>G | |
| 12 | g.49022072A>G | CA384675784 | KMT2D | c.462T>C n.1164T>C n.2126T>C n.898T>C c.16540T>C (p.Ser5514Pro) c.463T>C (p.Ser155Pro) c.1085T>C (n.1085T>C) c.1646T>C c.16501T>C (p.Ser5501Pro) c.493T>C (p.Ser165Pro) c.16489T>C (p.Ser5497Pro) c.16492T>C (p.Ser5498Pro) c.535T>C (p.Ser179Pro) c.16549T>C (p.Ser5517Pro) c.16546T>C (p.Ser5516Pro) c.16537T>C (p.Ser5513Pro) c.16528T>C (p.Ser5510Pro) c.16483T>C (p.Ser5495Pro) c.16456T>C (p.Ser5486Pro) n.16669T>C | |
| 12 | g.49022072A>T | CA384675786 | KMT2D | c.462T>A n.1164T>A n.2126T>A n.898T>A c.16540T>A (p.Ser5514Thr) c.463T>A (p.Ser155Thr) c.1085T>A (n.1085T>A) c.1646T>A c.16501T>A (p.Ser5501Thr) c.493T>A (p.Ser165Thr) c.16489T>A (p.Ser5497Thr) c.16492T>A (p.Ser5498Thr) c.535T>A (p.Ser179Thr) c.16549T>A (p.Ser5517Thr) c.16546T>A (p.Ser5516Thr) c.16537T>A (p.Ser5513Thr) c.16528T>A (p.Ser5510Thr) c.16483T>A (p.Ser5495Thr) c.16456T>A (p.Ser5486Thr) n.16669T>A | |
| 12 | g.49022072_49022075delinsAGAT | CA2034962985 | KMT2D | c.459_462delinsATCT n.1161_1164delinsATCT n.2123_2126delinsATCT n.895_898delinsATCT c.16537_16540delinsATCT (p.Ile5513=) c.460_463delinsATCT (p.Ile154=) c.1082_1085delinsATCT (n.1082_1085delinsATCT) c.1643_1646delinsATCT c.16498_16501delinsATCT (p.Ile5500=) c.490_493delinsATCT (p.Ile164=) c.16486_16489delinsATCT (p.Ile5496=) c.16489_16492delinsATCT (p.Ile5497=) c.532_535delinsATCT (p.Ile178=) c.16546_16549delinsATCT (p.Ile5516=) c.16543_16546delinsATCT (p.Ile5515=) c.16534_16537delinsATCT (p.Ile5512=) c.16525_16528delinsATCT (p.Ile5509=) c.16480_16483delinsATCT (p.Ile5494=) c.16453_16456delinsATCT (p.Ile5485=) n.16666_16669delinsATCT | |
| 12 | g.49022073G>A | CA479520861 | KMT2D | c.461C>T n.1163C>T n.2125C>T n.897C>T c.16539C>T (p.Ile5513=) c.462C>T (p.Ile154=) c.1084C>T (n.1084C>T) c.1645C>T c.16500C>T (p.Ile5500=) c.492C>T (p.Ile164=) c.16488C>T (p.Ile5496=) c.16491C>T (p.Ile5497=) c.534C>T (p.Ile178=) c.16548C>T (p.Ile5516=) c.16545C>T (p.Ile5515=) c.16536C>T (p.Ile5512=) c.16527C>T (p.Ile5509=) c.16482C>T (p.Ile5494=) c.16455C>T (p.Ile5485=) n.16668C>T | dbSNP |
| 12 | g.49022073G>C | CA384675788 | KMT2D | c.461C>G n.1163C>G n.2125C>G n.897C>G c.16539C>G (p.Ile5513Met) c.462C>G (p.Ile154Met) c.1084C>G (n.1084C>G) c.1645C>G c.16500C>G (p.Ile5500Met) c.492C>G (p.Ile164Met) c.16488C>G (p.Ile5496Met) c.16491C>G (p.Ile5497Met) c.534C>G (p.Ile178Met) c.16548C>G (p.Ile5516Met) c.16545C>G (p.Ile5515Met) c.16536C>G (p.Ile5512Met) c.16527C>G (p.Ile5509Met) c.16482C>G (p.Ile5494Met) c.16455C>G (p.Ile5485Met) n.16668C>G | dbSNP |
| 12 | g.49022073G>T | CA479520862 | KMT2D | c.461C>A n.1163C>A n.2125C>A n.897C>A c.16539C>A (p.Ile5513=) c.462C>A (p.Ile154=) c.1084C>A (n.1084C>A) c.1645C>A c.16500C>A (p.Ile5500=) c.492C>A (p.Ile164=) c.16488C>A (p.Ile5496=) c.16491C>A (p.Ile5497=) c.534C>A (p.Ile178=) c.16548C>A (p.Ile5516=) c.16545C>A (p.Ile5515=) c.16536C>A (p.Ile5512=) c.16527C>A (p.Ile5509=) c.16482C>A (p.Ile5494=) c.16455C>A (p.Ile5485=) n.16668C>A | |
| 12 | g.49022082_49022084del | CA271616 | KMT2D | c.459_461del n.1161_1163del n.2123_2125del n.895_897del c.16537_16539del (p.Ile5513del) c.460_462del (p.Ile154del) c.1082_1084del (n.1082_1084del) c.1643_1645del c.16498_16500del (p.Ile5500del) c.490_492del (p.Ile164del) c.16486_16488del (p.Ile5496del) c.16489_16491del (p.Ile5497del) c.532_534del (p.Ile178del) c.16546_16548del (p.Ile5516del) c.16543_16545del (p.Ile5515del) c.16534_16536del (p.Ile5512del) c.16525_16527del (p.Ile5509del) c.16480_16482del (p.Ile5494del) c.16453_16455del (p.Ile5485del) n.16666_16668del | ClinVar dbSNP |
| 12 | g.49022074A>C | CA384675804 | KMT2D | c.460T>G n.1162T>G n.2124T>G n.896T>G c.16538T>G (p.Ile5513Ser) c.461T>G (p.Ile154Ser) c.1083T>G (n.1083T>G) c.1644T>G c.16499T>G (p.Ile5500Ser) c.491T>G (p.Ile164Ser) c.16487T>G (p.Ile5496Ser) c.16490T>G (p.Ile5497Ser) c.533T>G (p.Ile178Ser) c.16547T>G (p.Ile5516Ser) c.16544T>G (p.Ile5515Ser) c.16535T>G (p.Ile5512Ser) c.16526T>G (p.Ile5509Ser) c.16481T>G (p.Ile5494Ser) c.16454T>G (p.Ile5485Ser) n.16667T>G | |
| 12 | g.49022074A>G | CA384675808 | KMT2D | c.460T>C n.1162T>C n.2124T>C n.896T>C c.16538T>C (p.Ile5513Thr) c.461T>C (p.Ile154Thr) c.1083T>C (n.1083T>C) c.1644T>C c.16499T>C (p.Ile5500Thr) c.491T>C (p.Ile164Thr) c.16487T>C (p.Ile5496Thr) c.16490T>C (p.Ile5497Thr) c.533T>C (p.Ile178Thr) c.16547T>C (p.Ile5516Thr) c.16544T>C (p.Ile5515Thr) c.16535T>C (p.Ile5512Thr) c.16526T>C (p.Ile5509Thr) c.16481T>C (p.Ile5494Thr) c.16454T>C (p.Ile5485Thr) n.16667T>C | dbSNP |
| 12 | g.49022074A>T | CA384675805 | KMT2D | c.460T>A n.1162T>A n.2124T>A n.896T>A c.16538T>A (p.Ile5513Asn) c.461T>A (p.Ile154Asn) c.1083T>A (n.1083T>A) c.1644T>A c.16499T>A (p.Ile5500Asn) c.491T>A (p.Ile164Asn) c.16487T>A (p.Ile5496Asn) c.16490T>A (p.Ile5497Asn) c.533T>A (p.Ile178Asn) c.16547T>A (p.Ile5516Asn) c.16544T>A (p.Ile5515Asn) c.16535T>A (p.Ile5512Asn) c.16526T>A (p.Ile5509Asn) c.16481T>A (p.Ile5494Asn) c.16454T>A (p.Ile5485Asn) n.16667T>A | |
| 12 | g.49022075T>A | CA384675812 | KMT2D | c.459A>T n.1161A>T n.2123A>T n.895A>T c.16537A>T (p.Ile5513Phe) c.460A>T (p.Ile154Phe) c.1082A>T (n.1082A>T) c.1643A>T c.16498A>T (p.Ile5500Phe) c.490A>T (p.Ile164Phe) c.16486A>T (p.Ile5496Phe) c.16489A>T (p.Ile5497Phe) c.532A>T (p.Ile178Phe) c.16546A>T (p.Ile5516Phe) c.16543A>T (p.Ile5515Phe) c.16534A>T (p.Ile5512Phe) c.16525A>T (p.Ile5509Phe) c.16480A>T (p.Ile5494Phe) c.16453A>T (p.Ile5485Phe) n.16666A>T | dbSNP |
| 12 | g.49022075T>C | CA384675816 | KMT2D | c.459A>G n.1161A>G n.2123A>G n.895A>G c.16537A>G (p.Ile5513Val) c.460A>G (p.Ile154Val) c.1082A>G (n.1082A>G) c.1643A>G c.16498A>G (p.Ile5500Val) c.490A>G (p.Ile164Val) c.16486A>G (p.Ile5496Val) c.16489A>G (p.Ile5497Val) c.532A>G (p.Ile178Val) c.16546A>G (p.Ile5516Val) c.16543A>G (p.Ile5515Val) c.16534A>G (p.Ile5512Val) c.16525A>G (p.Ile5509Val) c.16480A>G (p.Ile5494Val) c.16453A>G (p.Ile5485Val) n.16666A>G | |
| 12 | g.49022075T>G | CA384675820 | KMT2D | c.459A>C n.1161A>C n.2123A>C n.895A>C c.16537A>C (p.Ile5513Leu) c.460A>C (p.Ile154Leu) c.1082A>C (n.1082A>C) c.1643A>C c.16498A>C (p.Ile5500Leu) c.490A>C (p.Ile164Leu) c.16486A>C (p.Ile5496Leu) c.16489A>C (p.Ile5497Leu) c.532A>C (p.Ile178Leu) c.16546A>C (p.Ile5516Leu) c.16543A>C (p.Ile5515Leu) c.16534A>C (p.Ile5512Leu) c.16525A>C (p.Ile5509Leu) c.16480A>C (p.Ile5494Leu) c.16453A>C (p.Ile5485Leu) n.16666A>C | dbSNP |
| 12 | g.49022076G>A | CA479520864 | KMT2D | c.458C>T n.1160C>T n.2122C>T n.894C>T c.16536C>T (p.Ile5512=) c.459C>T (p.Ile153=) c.1081C>T (n.1081C>T) c.1642C>T c.16497C>T (p.Ile5499=) c.489C>T (p.Ile163=) c.16485C>T (p.Ile5495=) c.16488C>T (p.Ile5496=) c.531C>T (p.Ile177=) c.16545C>T (p.Ile5515=) c.16542C>T (p.Ile5514=) c.16533C>T (p.Ile5511=) c.16524C>T (p.Ile5508=) c.16479C>T (p.Ile5493=) c.16452C>T (p.Ile5484=) n.16665C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022076G>C | CA384675825 | KMT2D | c.458C>G n.1160C>G n.2122C>G n.894C>G c.16536C>G (p.Ile5512Met) c.459C>G (p.Ile153Met) c.1081C>G (n.1081C>G) c.1642C>G c.16497C>G (p.Ile5499Met) c.489C>G (p.Ile163Met) c.16485C>G (p.Ile5495Met) c.16488C>G (p.Ile5496Met) c.531C>G (p.Ile177Met) c.16545C>G (p.Ile5515Met) c.16542C>G (p.Ile5514Met) c.16533C>G (p.Ile5511Met) c.16524C>G (p.Ile5508Met) c.16479C>G (p.Ile5493Met) c.16452C>G (p.Ile5484Met) n.16665C>G | dbSNP |
| 12 | g.49022076G= | CA2034962987 | KMT2D | c.458C= n.1160C= n.2122C= n.894C= c.16536C= (p.Ile5512=) c.459C= (p.Ile153=) c.1081C= (n.1081C=) c.1642C= c.16497C= (p.Ile5499=) c.489C= (p.Ile163=) c.16485C= (p.Ile5495=) c.16488C= (p.Ile5496=) c.531C= (p.Ile177=) c.16545C= (p.Ile5515=) c.16542C= (p.Ile5514=) c.16533C= (p.Ile5511=) c.16524C= (p.Ile5508=) c.16479C= (p.Ile5493=) c.16452C= (p.Ile5484=) n.16665C= | |
| 12 | g.49022076G>T | CA479520865 | KMT2D | c.458C>A n.1160C>A n.2122C>A n.894C>A c.16536C>A (p.Ile5512=) c.459C>A (p.Ile153=) c.1081C>A (n.1081C>A) c.1642C>A c.16497C>A (p.Ile5499=) c.489C>A (p.Ile163=) c.16485C>A (p.Ile5495=) c.16488C>A (p.Ile5496=) c.531C>A (p.Ile177=) c.16545C>A (p.Ile5515=) c.16542C>A (p.Ile5514=) c.16533C>A (p.Ile5511=) c.16524C>A (p.Ile5508=) c.16479C>A (p.Ile5493=) c.16452C>A (p.Ile5484=) n.16665C>A | gnomAD v4 |
| 12 | g.49022077A= | CA2034962990 | KMT2D | c.457T= n.1159T= n.2121T= n.893T= c.16535T= (p.Ile5512=) c.458T= (p.Ile153=) c.1080T= (n.1080T=) c.1641T= c.16496T= (p.Ile5499=) c.488T= (p.Ile163=) c.16484T= (p.Ile5495=) c.16487T= (p.Ile5496=) c.530T= (p.Ile177=) c.16544T= (p.Ile5515=) c.16541T= (p.Ile5514=) c.16532T= (p.Ile5511=) c.16523T= (p.Ile5508=) c.16478T= (p.Ile5493=) c.16451T= (p.Ile5484=) n.16664T= | |
| 12 | g.49022077A>C | CA234159 | KMT2D | c.457T>G n.1159T>G n.2121T>G n.893T>G c.16535T>G (p.Ile5512Ser) c.458T>G (p.Ile153Ser) c.1080T>G (n.1080T>G) c.1641T>G c.16496T>G (p.Ile5499Ser) c.488T>G (p.Ile163Ser) c.16484T>G (p.Ile5495Ser) c.16487T>G (p.Ile5496Ser) c.530T>G (p.Ile177Ser) c.16544T>G (p.Ile5515Ser) c.16541T>G (p.Ile5514Ser) c.16532T>G (p.Ile5511Ser) c.16523T>G (p.Ile5508Ser) c.16478T>G (p.Ile5493Ser) c.16451T>G (p.Ile5484Ser) n.16664T>G | ClinVar dbSNP |
| 12 | g.49022077A>G | CA384675828 | KMT2D | c.457T>C n.1159T>C n.2121T>C n.893T>C c.16535T>C (p.Ile5512Thr) c.458T>C (p.Ile153Thr) c.1080T>C (n.1080T>C) c.1641T>C c.16496T>C (p.Ile5499Thr) c.488T>C (p.Ile163Thr) c.16484T>C (p.Ile5495Thr) c.16487T>C (p.Ile5496Thr) c.530T>C (p.Ile177Thr) c.16544T>C (p.Ile5515Thr) c.16541T>C (p.Ile5514Thr) c.16532T>C (p.Ile5511Thr) c.16523T>C (p.Ile5508Thr) c.16478T>C (p.Ile5493Thr) c.16451T>C (p.Ile5484Thr) n.16664T>C | |
| 12 | g.49022077A>T | CA384675829 | KMT2D | c.457T>A n.1159T>A n.2121T>A n.893T>A c.16535T>A (p.Ile5512Asn) c.458T>A (p.Ile153Asn) c.1080T>A (n.1080T>A) c.1641T>A c.16496T>A (p.Ile5499Asn) c.488T>A (p.Ile163Asn) c.16484T>A (p.Ile5495Asn) c.16487T>A (p.Ile5496Asn) c.530T>A (p.Ile177Asn) c.16544T>A (p.Ile5515Asn) c.16541T>A (p.Ile5514Asn) c.16532T>A (p.Ile5511Asn) c.16523T>A (p.Ile5508Asn) c.16478T>A (p.Ile5493Asn) c.16451T>A (p.Ile5484Asn) n.16664T>A | |
| 12 | g.49022078T>A | CA384675830 | KMT2D | c.456A>T n.1158A>T n.2120A>T n.892A>T c.16534A>T (p.Ile5512Phe) c.457A>T (p.Ile153Phe) c.1079A>T (n.1079A>T) c.1640A>T c.16495A>T (p.Ile5499Phe) c.487A>T (p.Ile163Phe) c.16483A>T (p.Ile5495Phe) c.16486A>T (p.Ile5496Phe) c.529A>T (p.Ile177Phe) c.16543A>T (p.Ile5515Phe) c.16540A>T (p.Ile5514Phe) c.16531A>T (p.Ile5511Phe) c.16522A>T (p.Ile5508Phe) c.16477A>T (p.Ile5493Phe) c.16450A>T (p.Ile5484Phe) n.16663A>T | dbSNP |
| 12 | g.49022078T>C | CA384675831 | KMT2D | c.456A>G n.1158A>G n.2120A>G n.892A>G c.16534A>G (p.Ile5512Val) c.457A>G (p.Ile153Val) c.1079A>G (n.1079A>G) c.1640A>G c.16495A>G (p.Ile5499Val) c.487A>G (p.Ile163Val) c.16483A>G (p.Ile5495Val) c.16486A>G (p.Ile5496Val) c.529A>G (p.Ile177Val) c.16543A>G (p.Ile5515Val) c.16540A>G (p.Ile5514Val) c.16531A>G (p.Ile5511Val) c.16522A>G (p.Ile5508Val) c.16477A>G (p.Ile5493Val) c.16450A>G (p.Ile5484Val) n.16663A>G | |
| 12 | g.49022078T>G | CA384675834 | KMT2D | c.456A>C n.1158A>C n.2120A>C n.892A>C c.16534A>C (p.Ile5512Leu) c.457A>C (p.Ile153Leu) c.1079A>C (n.1079A>C) c.1640A>C c.16495A>C (p.Ile5499Leu) c.487A>C (p.Ile163Leu) c.16483A>C (p.Ile5495Leu) c.16486A>C (p.Ile5496Leu) c.529A>C (p.Ile177Leu) c.16543A>C (p.Ile5515Leu) c.16540A>C (p.Ile5514Leu) c.16531A>C (p.Ile5511Leu) c.16522A>C (p.Ile5508Leu) c.16477A>C (p.Ile5493Leu) c.16450A>C (p.Ile5484Leu) n.16663A>C | dbSNP |
| 12 | g.49022079G>A | CA479520867 | KMT2D | c.455C>T n.1157C>T n.2119C>T n.891C>T c.16533C>T (p.Ile5511=) c.456C>T (p.Ile152=) c.1078C>T (n.1078C>T) c.1639C>T c.16494C>T (p.Ile5498=) c.486C>T (p.Ile162=) c.16482C>T (p.Ile5494=) c.16485C>T (p.Ile5495=) c.528C>T (p.Ile176=) c.16542C>T (p.Ile5514=) c.16539C>T (p.Ile5513=) c.16530C>T (p.Ile5510=) c.16521C>T (p.Ile5507=) c.16476C>T (p.Ile5492=) c.16449C>T (p.Ile5483=) n.16662C>T | dbSNP gnomAD v4 |
| 12 | g.49022079G>C | CA384675840 | KMT2D | c.455C>G n.1157C>G n.2119C>G n.891C>G c.16533C>G (p.Ile5511Met) c.456C>G (p.Ile152Met) c.1078C>G (n.1078C>G) c.1639C>G c.16494C>G (p.Ile5498Met) c.486C>G (p.Ile162Met) c.16482C>G (p.Ile5494Met) c.16485C>G (p.Ile5495Met) c.528C>G (p.Ile176Met) c.16542C>G (p.Ile5514Met) c.16539C>G (p.Ile5513Met) c.16530C>G (p.Ile5510Met) c.16521C>G (p.Ile5507Met) c.16476C>G (p.Ile5492Met) c.16449C>G (p.Ile5483Met) n.16662C>G | dbSNP |
| 12 | g.49022079G>T | CA479520868 | KMT2D | c.455C>A n.1157C>A n.2119C>A n.891C>A c.16533C>A (p.Ile5511=) c.456C>A (p.Ile152=) c.1078C>A (n.1078C>A) c.1639C>A c.16494C>A (p.Ile5498=) c.486C>A (p.Ile162=) c.16482C>A (p.Ile5494=) c.16485C>A (p.Ile5495=) c.528C>A (p.Ile176=) c.16542C>A (p.Ile5514=) c.16539C>A (p.Ile5513=) c.16530C>A (p.Ile5510=) c.16521C>A (p.Ile5507=) c.16476C>A (p.Ile5492=) c.16449C>A (p.Ile5483=) n.16662C>A | |
| 12 | g.49022080A>C | CA384675848 | KMT2D | c.454T>G n.1156T>G n.2118T>G n.890T>G c.16532T>G (p.Ile5511Ser) c.455T>G (p.Ile152Ser) c.1077T>G (n.1077T>G) c.1638T>G c.16493T>G (p.Ile5498Ser) c.485T>G (p.Ile162Ser) c.16481T>G (p.Ile5494Ser) c.16484T>G (p.Ile5495Ser) c.527T>G (p.Ile176Ser) c.16541T>G (p.Ile5514Ser) c.16538T>G (p.Ile5513Ser) c.16529T>G (p.Ile5510Ser) c.16520T>G (p.Ile5507Ser) c.16475T>G (p.Ile5492Ser) c.16448T>G (p.Ile5483Ser) n.16661T>G | |
| 12 | g.49022080A>G | CA384675845 | KMT2D | c.454T>C n.1156T>C n.2118T>C n.890T>C c.16532T>C (p.Ile5511Thr) c.455T>C (p.Ile152Thr) c.1077T>C (n.1077T>C) c.1638T>C c.16493T>C (p.Ile5498Thr) c.485T>C (p.Ile162Thr) c.16481T>C (p.Ile5494Thr) c.16484T>C (p.Ile5495Thr) c.527T>C (p.Ile176Thr) c.16541T>C (p.Ile5514Thr) c.16538T>C (p.Ile5513Thr) c.16529T>C (p.Ile5510Thr) c.16520T>C (p.Ile5507Thr) c.16475T>C (p.Ile5492Thr) c.16448T>C (p.Ile5483Thr) n.16661T>C | |
| 12 | g.49022080A>T | CA384675842 | KMT2D | c.454T>A n.1156T>A n.2118T>A n.890T>A c.16532T>A (p.Ile5511Asn) c.455T>A (p.Ile152Asn) c.1077T>A (n.1077T>A) c.1638T>A c.16493T>A (p.Ile5498Asn) c.485T>A (p.Ile162Asn) c.16481T>A (p.Ile5494Asn) c.16484T>A (p.Ile5495Asn) c.527T>A (p.Ile176Asn) c.16541T>A (p.Ile5514Asn) c.16538T>A (p.Ile5513Asn) c.16529T>A (p.Ile5510Asn) c.16520T>A (p.Ile5507Asn) c.16475T>A (p.Ile5492Asn) c.16448T>A (p.Ile5483Asn) n.16661T>A | dbSNP |
| 12 | g.49022081T>A | CA384675856 | KMT2D | c.453A>T n.1155A>T n.2117A>T n.889A>T c.16531A>T (p.Ile5511Phe) c.454A>T (p.Ile152Phe) c.1076A>T (n.1076A>T) c.1637A>T c.16492A>T (p.Ile5498Phe) c.484A>T (p.Ile162Phe) c.16480A>T (p.Ile5494Phe) c.16483A>T (p.Ile5495Phe) c.526A>T (p.Ile176Phe) c.16540A>T (p.Ile5514Phe) c.16537A>T (p.Ile5513Phe) c.16528A>T (p.Ile5510Phe) c.16519A>T (p.Ile5507Phe) c.16474A>T (p.Ile5492Phe) c.16447A>T (p.Ile5483Phe) n.16660A>T | dbSNP |
| 12 | g.49022081T>C | CA384675860 | KMT2D | c.453A>G n.1155A>G n.2117A>G n.889A>G c.16531A>G (p.Ile5511Val) c.454A>G (p.Ile152Val) c.1076A>G (n.1076A>G) c.1637A>G c.16492A>G (p.Ile5498Val) c.484A>G (p.Ile162Val) c.16480A>G (p.Ile5494Val) c.16483A>G (p.Ile5495Val) c.526A>G (p.Ile176Val) c.16540A>G (p.Ile5514Val) c.16537A>G (p.Ile5513Val) c.16528A>G (p.Ile5510Val) c.16519A>G (p.Ile5507Val) c.16474A>G (p.Ile5492Val) c.16447A>G (p.Ile5483Val) n.16660A>G | dbSNP |
| 12 | g.49022081T>G | CA384675861 | KMT2D | c.453A>C n.1155A>C n.2117A>C n.889A>C c.16531A>C (p.Ile5511Leu) c.454A>C (p.Ile152Leu) c.1076A>C (n.1076A>C) c.1637A>C c.16492A>C (p.Ile5498Leu) c.484A>C (p.Ile162Leu) c.16480A>C (p.Ile5494Leu) c.16483A>C (p.Ile5495Leu) c.526A>C (p.Ile176Leu) c.16540A>C (p.Ile5514Leu) c.16537A>C (p.Ile5513Leu) c.16528A>C (p.Ile5510Leu) c.16519A>C (p.Ile5507Leu) c.16474A>C (p.Ile5492Leu) c.16447A>C (p.Ile5483Leu) n.16660A>C | |
| 12 | g.49022082G>A | CA479520872 | KMT2D | c.452C>T n.1154C>T n.2116C>T n.888C>T c.16530C>T (p.Ile5510=) c.453C>T (p.Ile151=) c.1075C>T (n.1075C>T) c.1636C>T c.16491C>T (p.Ile5497=) c.483C>T (p.Ile161=) c.16479C>T (p.Ile5493=) c.16482C>T (p.Ile5494=) c.525C>T (p.Ile175=) c.16539C>T (p.Ile5513=) c.16536C>T (p.Ile5512=) c.16527C>T (p.Ile5509=) c.16518C>T (p.Ile5506=) c.16473C>T (p.Ile5491=) c.16446C>T (p.Ile5482=) n.16659C>T | dbSNP |
| 12 | g.49022082G>C | CA384675864 | KMT2D | c.452C>G n.1154C>G n.2116C>G n.888C>G c.16530C>G (p.Ile5510Met) c.453C>G (p.Ile151Met) c.1075C>G (n.1075C>G) c.1636C>G c.16491C>G (p.Ile5497Met) c.483C>G (p.Ile161Met) c.16479C>G (p.Ile5493Met) c.16482C>G (p.Ile5494Met) c.525C>G (p.Ile175Met) c.16539C>G (p.Ile5513Met) c.16536C>G (p.Ile5512Met) c.16527C>G (p.Ile5509Met) c.16518C>G (p.Ile5506Met) c.16473C>G (p.Ile5491Met) c.16446C>G (p.Ile5482Met) n.16659C>G | dbSNP |
| 12 | g.49022082G>T | CA479520873 | KMT2D | c.452C>A n.1154C>A n.2116C>A n.888C>A c.16530C>A (p.Ile5510=) c.453C>A (p.Ile151=) c.1075C>A (n.1075C>A) c.1636C>A c.16491C>A (p.Ile5497=) c.483C>A (p.Ile161=) c.16479C>A (p.Ile5493=) c.16482C>A (p.Ile5494=) c.525C>A (p.Ile175=) c.16539C>A (p.Ile5513=) c.16536C>A (p.Ile5512=) c.16527C>A (p.Ile5509=) c.16518C>A (p.Ile5506=) c.16473C>A (p.Ile5491=) c.16446C>A (p.Ile5482=) n.16659C>A | gnomAD v4 |
| 12 | g.49022083A>C | CA384675868 | KMT2D | c.451T>G n.1153T>G n.2115T>G n.887T>G c.16529T>G (p.Ile5510Ser) c.452T>G (p.Ile151Ser) c.1074T>G (n.1074T>G) c.1635T>G c.16490T>G (p.Ile5497Ser) c.482T>G (p.Ile161Ser) c.16478T>G (p.Ile5493Ser) c.16481T>G (p.Ile5494Ser) c.524T>G (p.Ile175Ser) c.16538T>G (p.Ile5513Ser) c.16535T>G (p.Ile5512Ser) c.16526T>G (p.Ile5509Ser) c.16517T>G (p.Ile5506Ser) c.16472T>G (p.Ile5491Ser) c.16445T>G (p.Ile5482Ser) n.16658T>G | |
| 12 | g.49022083A>G | CA384675871 | KMT2D | c.451T>C n.1153T>C n.2115T>C n.887T>C c.16529T>C (p.Ile5510Thr) c.452T>C (p.Ile151Thr) c.1074T>C (n.1074T>C) c.1635T>C c.16490T>C (p.Ile5497Thr) c.482T>C (p.Ile161Thr) c.16478T>C (p.Ile5493Thr) c.16481T>C (p.Ile5494Thr) c.524T>C (p.Ile175Thr) c.16538T>C (p.Ile5513Thr) c.16535T>C (p.Ile5512Thr) c.16526T>C (p.Ile5509Thr) c.16517T>C (p.Ile5506Thr) c.16472T>C (p.Ile5491Thr) c.16445T>C (p.Ile5482Thr) n.16658T>C | |
| 12 | g.49022083A>T | CA384675872 | KMT2D | c.451T>A n.1153T>A n.2115T>A n.887T>A c.16529T>A (p.Ile5510Asn) c.452T>A (p.Ile151Asn) c.1074T>A (n.1074T>A) c.1635T>A c.16490T>A (p.Ile5497Asn) c.482T>A (p.Ile161Asn) c.16478T>A (p.Ile5493Asn) c.16481T>A (p.Ile5494Asn) c.524T>A (p.Ile175Asn) c.16538T>A (p.Ile5513Asn) c.16535T>A (p.Ile5512Asn) c.16526T>A (p.Ile5509Asn) c.16517T>A (p.Ile5506Asn) c.16472T>A (p.Ile5491Asn) c.16445T>A (p.Ile5482Asn) n.16658T>A | |
| 12 | g.49022084T>A | CA384675886 | KMT2D | c.450A>T n.1152A>T n.2114A>T n.886A>T c.16528A>T (p.Ile5510Phe) c.451A>T (p.Ile151Phe) c.1073A>T (n.1073A>T) c.1634A>T c.16489A>T (p.Ile5497Phe) c.481A>T (p.Ile161Phe) c.16477A>T (p.Ile5493Phe) c.16480A>T (p.Ile5494Phe) c.523A>T (p.Ile175Phe) c.16537A>T (p.Ile5513Phe) c.16534A>T (p.Ile5512Phe) c.16525A>T (p.Ile5509Phe) c.16516A>T (p.Ile5506Phe) c.16471A>T (p.Ile5491Phe) c.16444A>T (p.Ile5482Phe) n.16657A>T | |
| 12 | g.49022084T>C | CA384675875 | KMT2D | c.450A>G n.1152A>G n.2114A>G n.886A>G c.16528A>G (p.Ile5510Val) c.451A>G (p.Ile151Val) c.1073A>G (n.1073A>G) c.1634A>G c.16489A>G (p.Ile5497Val) c.481A>G (p.Ile161Val) c.16477A>G (p.Ile5493Val) c.16480A>G (p.Ile5494Val) c.523A>G (p.Ile175Val) c.16537A>G (p.Ile5513Val) c.16534A>G (p.Ile5512Val) c.16525A>G (p.Ile5509Val) c.16516A>G (p.Ile5506Val) c.16471A>G (p.Ile5491Val) c.16444A>G (p.Ile5482Val) n.16657A>G | |
| 12 | g.49022084T>G | CA384675881 | KMT2D | c.450A>C n.1152A>C n.2114A>C n.886A>C c.16528A>C (p.Ile5510Leu) c.451A>C (p.Ile151Leu) c.1073A>C (n.1073A>C) c.1634A>C c.16489A>C (p.Ile5497Leu) c.481A>C (p.Ile161Leu) c.16477A>C (p.Ile5493Leu) c.16480A>C (p.Ile5494Leu) c.523A>C (p.Ile175Leu) c.16537A>C (p.Ile5513Leu) c.16534A>C (p.Ile5512Leu) c.16525A>C (p.Ile5509Leu) c.16516A>C (p.Ile5506Leu) c.16471A>C (p.Ile5491Leu) c.16444A>C (p.Ile5482Leu) n.16657A>C | |
| 12 | g.49022087dup | CA645594421 | KMT2D | c.450dup n.1152dup n.2114dup n.886dup c.16528dup (p.Ile5510AsnfsTer18) c.451dup (p.Ile151AsnfsTer18) c.1073dup (n.1073dup) c.1634dup c.16489dup (p.Ile5497AsnfsTer18) c.481dup (p.Ile161AsnfsTer18) c.16477dup (p.Ile5493AsnfsTer18) c.16480dup (p.Ile5494AsnfsTer18) c.523dup (p.Ile175AsnfsTer18) c.16537dup (p.Ile5513AsnfsTer18) c.16534dup (p.Ile5512AsnfsTer18) c.16525dup (p.Ile5509AsnfsTer18) c.16516dup (p.Ile5506AsnfsTer18) c.16471dup (p.Ile5491AsnfsTer18) c.16444dup (p.Ile5482AsnfsTer18) n.16657dup | COSMIC COSMIC |
| 12 | g.49022085T>A | CA384675889 | KMT2D | c.449A>T n.1151A>T n.2113A>T n.885A>T c.16527A>T (p.Lys5509Asn) c.450A>T (p.Lys150Asn) c.1072A>T (n.1072A>T) c.1633A>T c.16488A>T (p.Lys5496Asn) c.480A>T (p.Lys160Asn) c.16476A>T (p.Lys5492Asn) c.16479A>T (p.Lys5493Asn) c.522A>T (p.Lys174Asn) c.16536A>T (p.Lys5512Asn) c.16533A>T (p.Lys5511Asn) c.16524A>T (p.Lys5508Asn) c.16515A>T (p.Lys5505Asn) c.16470A>T (p.Lys5490Asn) c.16443A>T (p.Lys5481Asn) n.16656A>T | |
| 12 | g.49022085T>C | CA479520877 | KMT2D | c.449A>G n.1151A>G n.2113A>G n.885A>G c.16527A>G (p.Lys5509=) c.450A>G (p.Lys150=) c.1072A>G (n.1072A>G) c.1633A>G c.16488A>G (p.Lys5496=) c.480A>G (p.Lys160=) c.16476A>G (p.Lys5492=) c.16479A>G (p.Lys5493=) c.522A>G (p.Lys174=) c.16536A>G (p.Lys5512=) c.16533A>G (p.Lys5511=) c.16524A>G (p.Lys5508=) c.16515A>G (p.Lys5505=) c.16470A>G (p.Lys5490=) c.16443A>G (p.Lys5481=) n.16656A>G | |
| 12 | g.49022085T>G | CA384675902 | KMT2D | c.449A>C n.1151A>C n.2113A>C n.885A>C c.16527A>C (p.Lys5509Asn) c.450A>C (p.Lys150Asn) c.1072A>C (n.1072A>C) c.1633A>C c.16488A>C (p.Lys5496Asn) c.480A>C (p.Lys160Asn) c.16476A>C (p.Lys5492Asn) c.16479A>C (p.Lys5493Asn) c.522A>C (p.Lys174Asn) c.16536A>C (p.Lys5512Asn) c.16533A>C (p.Lys5511Asn) c.16524A>C (p.Lys5508Asn) c.16515A>C (p.Lys5505Asn) c.16470A>C (p.Lys5490Asn) c.16443A>C (p.Lys5481Asn) n.16656A>C | dbSNP COSMIC COSMIC |
| 12 | g.49022086T>A | CA384675905 | KMT2D | c.448A>T n.1150A>T n.2112A>T n.884A>T c.16526A>T (p.Lys5509Ile) c.449A>T (p.Lys150Ile) c.1071A>T (n.1071A>T) c.1632A>T c.16487A>T (p.Lys5496Ile) c.479A>T (p.Lys160Ile) c.16475A>T (p.Lys5492Ile) c.16478A>T (p.Lys5493Ile) c.521A>T (p.Lys174Ile) c.16535A>T (p.Lys5512Ile) c.16532A>T (p.Lys5511Ile) c.16523A>T (p.Lys5508Ile) c.16514A>T (p.Lys5505Ile) c.16469A>T (p.Lys5490Ile) c.16442A>T (p.Lys5481Ile) n.16655A>T | dbSNP |
| 12 | g.49022086T>C | CA384675907 | KMT2D | c.448A>G n.1150A>G n.2112A>G n.884A>G c.16526A>G (p.Lys5509Arg) c.449A>G (p.Lys150Arg) c.1071A>G (n.1071A>G) c.1632A>G c.16487A>G (p.Lys5496Arg) c.479A>G (p.Lys160Arg) c.16475A>G (p.Lys5492Arg) c.16478A>G (p.Lys5493Arg) c.521A>G (p.Lys174Arg) c.16535A>G (p.Lys5512Arg) c.16532A>G (p.Lys5511Arg) c.16523A>G (p.Lys5508Arg) c.16514A>G (p.Lys5505Arg) c.16469A>G (p.Lys5490Arg) c.16442A>G (p.Lys5481Arg) n.16655A>G | |
| 12 | g.49022086T>G | CA384675911 | KMT2D | c.448A>C n.1150A>C n.2112A>C n.884A>C c.16526A>C (p.Lys5509Thr) c.449A>C (p.Lys150Thr) c.1071A>C (n.1071A>C) c.1632A>C c.16487A>C (p.Lys5496Thr) c.479A>C (p.Lys160Thr) c.16475A>C (p.Lys5492Thr) c.16478A>C (p.Lys5493Thr) c.521A>C (p.Lys174Thr) c.16535A>C (p.Lys5512Thr) c.16532A>C (p.Lys5511Thr) c.16523A>C (p.Lys5508Thr) c.16514A>C (p.Lys5505Thr) c.16469A>C (p.Lys5490Thr) c.16442A>C (p.Lys5481Thr) n.16655A>C | |
| 12 | g.49022087T>A | CA384675912 | KMT2D | c.447A>T n.1149A>T n.2111A>T n.883A>T c.16525A>T (p.Lys5509Ter) c.448A>T (p.Lys150Ter) c.1070A>T (n.1070A>T) c.1631A>T c.16486A>T (p.Lys5496Ter) c.478A>T (p.Lys160Ter) c.16474A>T (p.Lys5492Ter) c.16477A>T (p.Lys5493Ter) c.520A>T (p.Lys174Ter) c.16534A>T (p.Lys5512Ter) c.16531A>T (p.Lys5511Ter) c.16522A>T (p.Lys5508Ter) c.16513A>T (p.Lys5505Ter) c.16468A>T (p.Lys5490Ter) c.16441A>T (p.Lys5481Ter) n.16654A>T | |
| 12 | g.49022087T>C | CA384675914 | KMT2D | c.447A>G n.1149A>G n.2111A>G n.883A>G c.16525A>G (p.Lys5509Glu) c.448A>G (p.Lys150Glu) c.1070A>G (n.1070A>G) c.1631A>G c.16486A>G (p.Lys5496Glu) c.478A>G (p.Lys160Glu) c.16474A>G (p.Lys5492Glu) c.16477A>G (p.Lys5493Glu) c.520A>G (p.Lys174Glu) c.16534A>G (p.Lys5512Glu) c.16531A>G (p.Lys5511Glu) c.16522A>G (p.Lys5508Glu) c.16513A>G (p.Lys5505Glu) c.16468A>G (p.Lys5490Glu) c.16441A>G (p.Lys5481Glu) n.16654A>G | |
| 12 | g.49022087T>G | CA384675913 | KMT2D | c.447A>C n.1149A>C n.2111A>C n.883A>C c.16525A>C (p.Lys5509Gln) c.448A>C (p.Lys150Gln) c.1070A>C (n.1070A>C) c.1631A>C c.16486A>C (p.Lys5496Gln) c.478A>C (p.Lys160Gln) c.16474A>C (p.Lys5492Gln) c.16477A>C (p.Lys5493Gln) c.520A>C (p.Lys174Gln) c.16534A>C (p.Lys5512Gln) c.16531A>C (p.Lys5511Gln) c.16522A>C (p.Lys5508Gln) c.16513A>C (p.Lys5505Gln) c.16468A>C (p.Lys5490Gln) c.16441A>C (p.Lys5481Gln) n.16654A>C | |
| 12 | g.49022088G>A | CA479520878 | KMT2D | c.446C>T n.1148C>T n.2110C>T n.882C>T c.16524C>T (p.Asp5508=) c.447C>T (p.Asp149=) c.1069C>T (n.1069C>T) c.1630C>T c.16485C>T (p.Asp5495=) c.477C>T (p.Asp159=) c.16473C>T (p.Asp5491=) c.16476C>T (p.Asp5492=) c.519C>T (p.Asp173=) c.16533C>T (p.Asp5511=) c.16530C>T (p.Asp5510=) c.16521C>T (p.Asp5507=) c.16512C>T (p.Asp5504=) c.16467C>T (p.Asp5489=) c.16440C>T (p.Asp5480=) n.16653C>T | dbSNP |
| 12 | g.49022088G>C | CA384675915 | KMT2D | c.446C>G n.1148C>G n.2110C>G n.882C>G c.16524C>G (p.Asp5508Glu) c.447C>G (p.Asp149Glu) c.1069C>G (n.1069C>G) c.1630C>G c.16485C>G (p.Asp5495Glu) c.477C>G (p.Asp159Glu) c.16473C>G (p.Asp5491Glu) c.16476C>G (p.Asp5492Glu) c.519C>G (p.Asp173Glu) c.16533C>G (p.Asp5511Glu) c.16530C>G (p.Asp5510Glu) c.16521C>G (p.Asp5507Glu) c.16512C>G (p.Asp5504Glu) c.16467C>G (p.Asp5489Glu) c.16440C>G (p.Asp5480Glu) n.16653C>G | dbSNP |
| 12 | g.49022088G>T | CA384675917 | KMT2D | c.446C>A n.1148C>A n.2110C>A n.882C>A c.16524C>A (p.Asp5508Glu) c.447C>A (p.Asp149Glu) c.1069C>A (n.1069C>A) c.1630C>A c.16485C>A (p.Asp5495Glu) c.477C>A (p.Asp159Glu) c.16473C>A (p.Asp5491Glu) c.16476C>A (p.Asp5492Glu) c.519C>A (p.Asp173Glu) c.16533C>A (p.Asp5511Glu) c.16530C>A (p.Asp5510Glu) c.16521C>A (p.Asp5507Glu) c.16512C>A (p.Asp5504Glu) c.16467C>A (p.Asp5489Glu) c.16440C>A (p.Asp5480Glu) n.16653C>A | dbSNP |
| 12 | g.49022089T>A | CA384675918 | KMT2D | c.445A>T n.1147A>T n.2109A>T n.881A>T c.16523A>T (p.Asp5508Val) c.446A>T (p.Asp149Val) c.1068A>T (n.1068A>T) c.1629A>T c.16484A>T (p.Asp5495Val) c.476A>T (p.Asp159Val) c.16472A>T (p.Asp5491Val) c.16475A>T (p.Asp5492Val) c.518A>T (p.Asp173Val) c.16532A>T (p.Asp5511Val) c.16529A>T (p.Asp5510Val) c.16520A>T (p.Asp5507Val) c.16511A>T (p.Asp5504Val) c.16466A>T (p.Asp5489Val) c.16439A>T (p.Asp5480Val) n.16652A>T | dbSNP |
| 12 | g.49022089T>C | CA384675919 | KMT2D | c.445A>G n.1147A>G n.2109A>G n.881A>G c.16523A>G (p.Asp5508Gly) c.446A>G (p.Asp149Gly) c.1068A>G (n.1068A>G) c.1629A>G c.16484A>G (p.Asp5495Gly) c.476A>G (p.Asp159Gly) c.16472A>G (p.Asp5491Gly) c.16475A>G (p.Asp5492Gly) c.518A>G (p.Asp173Gly) c.16532A>G (p.Asp5511Gly) c.16529A>G (p.Asp5510Gly) c.16520A>G (p.Asp5507Gly) c.16511A>G (p.Asp5504Gly) c.16466A>G (p.Asp5489Gly) c.16439A>G (p.Asp5480Gly) n.16652A>G | |
| 12 | g.49022089T>G | CA384675920 | KMT2D | c.445A>C n.1147A>C n.2109A>C n.881A>C c.16523A>C (p.Asp5508Ala) c.446A>C (p.Asp149Ala) c.1068A>C (n.1068A>C) c.1629A>C c.16484A>C (p.Asp5495Ala) c.476A>C (p.Asp159Ala) c.16472A>C (p.Asp5491Ala) c.16475A>C (p.Asp5492Ala) c.518A>C (p.Asp173Ala) c.16532A>C (p.Asp5511Ala) c.16529A>C (p.Asp5510Ala) c.16520A>C (p.Asp5507Ala) c.16511A>C (p.Asp5504Ala) c.16466A>C (p.Asp5489Ala) c.16439A>C (p.Asp5480Ala) n.16652A>C | |
| 12 | g.49022090C>A | CA384675921 | KMT2D | c.444G>T n.1146G>T n.2108G>T n.880G>T c.16522G>T (p.Asp5508Tyr) c.445G>T (p.Asp149Tyr) c.1067G>T (n.1067G>T) c.1628G>T c.16483G>T (p.Asp5495Tyr) c.475G>T (p.Asp159Tyr) c.16471G>T (p.Asp5491Tyr) c.16474G>T (p.Asp5492Tyr) c.517G>T (p.Asp173Tyr) c.16531G>T (p.Asp5511Tyr) c.16528G>T (p.Asp5510Tyr) c.16519G>T (p.Asp5507Tyr) c.16510G>T (p.Asp5504Tyr) c.16465G>T (p.Asp5489Tyr) c.16438G>T (p.Asp5480Tyr) n.16651G>T | dbSNP |
| 12 | g.49022090C= | CA2034962992 | KMT2D | c.444G= n.1146G= n.2108G= n.880G= c.16522G= (p.Asp5508=) c.445G= (p.Asp149=) c.1067G= (n.1067G=) c.1628G= c.16483G= (p.Asp5495=) c.475G= (p.Asp159=) c.16471G= (p.Asp5491=) c.16474G= (p.Asp5492=) c.517G= (p.Asp173=) c.16531G= (p.Asp5511=) c.16528G= (p.Asp5510=) c.16519G= (p.Asp5507=) c.16510G= (p.Asp5504=) c.16465G= (p.Asp5489=) c.16438G= (p.Asp5480=) n.16651G= | |
| 12 | g.49022090C>G | CA384675922 | KMT2D | c.444G>C n.1146G>C n.2108G>C n.880G>C c.16522G>C (p.Asp5508His) c.445G>C (p.Asp149His) c.1067G>C (n.1067G>C) c.1628G>C c.16483G>C (p.Asp5495His) c.475G>C (p.Asp159His) c.16471G>C (p.Asp5491His) c.16474G>C (p.Asp5492His) c.517G>C (p.Asp173His) c.16531G>C (p.Asp5511His) c.16528G>C (p.Asp5510His) c.16519G>C (p.Asp5507His) c.16510G>C (p.Asp5504His) c.16465G>C (p.Asp5489His) c.16438G>C (p.Asp5480His) n.16651G>C | dbSNP |
| 12 | g.49022090C>T | CA384675924 | KMT2D | c.444G>A n.1146G>A n.2108G>A n.880G>A c.16522G>A (p.Asp5508Asn) c.445G>A (p.Asp149Asn) c.1067G>A (n.1067G>A) c.1628G>A c.16483G>A (p.Asp5495Asn) c.475G>A (p.Asp159Asn) c.16471G>A (p.Asp5491Asn) c.16474G>A (p.Asp5492Asn) c.517G>A (p.Asp173Asn) c.16531G>A (p.Asp5511Asn) c.16528G>A (p.Asp5510Asn) c.16519G>A (p.Asp5507Asn) c.16510G>A (p.Asp5504Asn) c.16465G>A (p.Asp5489Asn) c.16438G>A (p.Asp5480Asn) n.16651G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49022091del | CA2695216335 | KMT2D | c.444del n.1146del n.2108del n.880del c.16522del (p.Asp5508ThrfsTer17) c.445del (p.Asp149ThrfsTer17) c.1067del (n.1067del) c.1628del c.16483del (p.Asp5495ThrfsTer17) c.475del (p.Asp159ThrfsTer17) c.16471del (p.Asp5491ThrfsTer17) c.16474del (p.Asp5492ThrfsTer17) c.517del (p.Asp173ThrfsTer17) c.16531del (p.Asp5511ThrfsTer17) c.16528del (p.Asp5510ThrfsTer17) c.16519del (p.Asp5507ThrfsTer17) c.16510del (p.Asp5504ThrfsTer17) c.16465del (p.Asp5489ThrfsTer17) c.16438del (p.Asp5480ThrfsTer17) n.16651del | |
| 12 | g.49022091C>A | CA384675928 | KMT2D | c.443G>T n.1145G>T n.2107G>T n.879G>T c.16521G>T (p.Glu5507Asp) c.444G>T (p.Glu148Asp) c.1066G>T (n.1066G>T) c.1627G>T c.16482G>T (p.Glu5494Asp) c.474G>T (p.Glu158Asp) c.16470G>T (p.Glu5490Asp) c.16473G>T (p.Glu5491Asp) c.516G>T (p.Glu172Asp) c.16530G>T (p.Glu5510Asp) c.16527G>T (p.Glu5509Asp) c.16518G>T (p.Glu5506Asp) c.16509G>T (p.Glu5503Asp) c.16464G>T (p.Glu5488Asp) c.16437G>T (p.Glu5479Asp) n.16650G>T | |
| 12 | g.49022091C= | CA2034962994 | KMT2D | c.443G= n.1145G= n.2107G= n.879G= c.16521G= (p.Glu5507=) c.444G= (p.Glu148=) c.1066G= (n.1066G=) c.1627G= c.16482G= (p.Glu5494=) c.474G= (p.Glu158=) c.16470G= (p.Glu5490=) c.16473G= (p.Glu5491=) c.516G= (p.Glu172=) c.16530G= (p.Glu5510=) c.16527G= (p.Glu5509=) c.16518G= (p.Glu5506=) c.16509G= (p.Glu5503=) c.16464G= (p.Glu5488=) c.16437G= (p.Glu5479=) n.16650G= | |
| 12 | g.49022091C>G | CA384675930 | KMT2D | c.443G>C n.1145G>C n.2107G>C n.879G>C c.16521G>C (p.Glu5507Asp) c.444G>C (p.Glu148Asp) c.1066G>C (n.1066G>C) c.1627G>C c.16482G>C (p.Glu5494Asp) c.474G>C (p.Glu158Asp) c.16470G>C (p.Glu5490Asp) c.16473G>C (p.Glu5491Asp) c.516G>C (p.Glu172Asp) c.16530G>C (p.Glu5510Asp) c.16527G>C (p.Glu5509Asp) c.16518G>C (p.Glu5506Asp) c.16509G>C (p.Glu5503Asp) c.16464G>C (p.Glu5488Asp) c.16437G>C (p.Glu5479Asp) n.16650G>C | dbSNP gnomAD v4 |
| 12 | g.49022091C>T | CA6545364 | KMT2D | c.443G>A n.1145G>A n.2107G>A n.879G>A c.16521G>A (p.Glu5507=) c.444G>A (p.Glu148=) c.1066G>A (n.1066G>A) c.1627G>A c.16482G>A (p.Glu5494=) c.474G>A (p.Glu158=) c.16470G>A (p.Glu5490=) c.16473G>A (p.Glu5491=) c.516G>A (p.Glu172=) c.16530G>A (p.Glu5510=) c.16527G>A (p.Glu5509=) c.16518G>A (p.Glu5506=) c.16509G>A (p.Glu5503=) c.16464G>A (p.Glu5488=) c.16437G>A (p.Glu5479=) n.16650G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49022091_49022095delinsCTCTT | CA2034962995 | KMT2D | c.439_443delinsAAGAG n.1141_1145delinsAAGAG n.2103_2107delinsAAGAG n.875_879delinsAAGAG c.16517_16521delinsAAGAG (p.Lys5506=) c.440_444delinsAAGAG (p.Lys147=) c.1062_1066delinsAAGAG (n.1062_1066delinsAAGAG) c.1623_1627delinsAAGAG c.16478_16482delinsAAGAG (p.Lys5493=) c.470_474delinsAAGAG (p.Lys157=) c.16466_16470delinsAAGAG (p.Lys5489=) c.16469_16473delinsAAGAG (p.Lys5490=) c.512_516delinsAAGAG (p.Lys171=) c.16526_16530delinsAAGAG (p.Lys5509=) c.16523_16527delinsAAGAG (p.Lys5508=) c.16514_16518delinsAAGAG (p.Lys5505=) c.16505_16509delinsAAGAG (p.Lys5502=) c.16460_16464delinsAAGAG (p.Lys5487=) c.16433_16437delinsAAGAG (p.Lys5478=) n.16646_16650delinsAAGAG | |
| 12 | g.49022092T>A | CA384675940 | KMT2D | c.442A>T n.1144A>T n.2106A>T n.878A>T c.16520A>T (p.Glu5507Val) c.443A>T (p.Glu148Val) c.1065A>T (n.1065A>T) c.1626A>T c.16481A>T (p.Glu5494Val) c.473A>T (p.Glu158Val) c.16469A>T (p.Glu5490Val) c.16472A>T (p.Glu5491Val) c.515A>T (p.Glu172Val) c.16529A>T (p.Glu5510Val) c.16526A>T (p.Glu5509Val) c.16517A>T (p.Glu5506Val) c.16508A>T (p.Glu5503Val) c.16463A>T (p.Glu5488Val) c.16436A>T (p.Glu5479Val) n.16649A>T | dbSNP |
| 12 | g.49022092T>C | CA384675938 | KMT2D | c.442A>G n.1144A>G n.2106A>G n.878A>G c.16520A>G (p.Glu5507Gly) c.443A>G (p.Glu148Gly) c.1065A>G (n.1065A>G) c.1626A>G c.16481A>G (p.Glu5494Gly) c.473A>G (p.Glu158Gly) c.16469A>G (p.Glu5490Gly) c.16472A>G (p.Glu5491Gly) c.515A>G (p.Glu172Gly) c.16529A>G (p.Glu5510Gly) c.16526A>G (p.Glu5509Gly) c.16517A>G (p.Glu5506Gly) c.16508A>G (p.Glu5503Gly) c.16463A>G (p.Glu5488Gly) c.16436A>G (p.Glu5479Gly) n.16649A>G | dbSNP |
| 12 | g.49022092T>G | CA384675934 | KMT2D | c.442A>C n.1144A>C n.2106A>C n.878A>C c.16520A>C (p.Glu5507Ala) c.443A>C (p.Glu148Ala) c.1065A>C (n.1065A>C) c.1626A>C c.16481A>C (p.Glu5494Ala) c.473A>C (p.Glu158Ala) c.16469A>C (p.Glu5490Ala) c.16472A>C (p.Glu5491Ala) c.515A>C (p.Glu172Ala) c.16529A>C (p.Glu5510Ala) c.16526A>C (p.Glu5509Ala) c.16517A>C (p.Glu5506Ala) c.16508A>C (p.Glu5503Ala) c.16463A>C (p.Glu5488Ala) c.16436A>C (p.Glu5479Ala) n.16649A>C | |
| 12 | g.49022093_49022096del | CA10603161 | KMT2D | c.439_442del n.1141_1144del n.2103_2106del n.875_878del c.16517_16520del (p.Lys5506ArgfsTer18) c.440_443del (p.Lys147ArgfsTer18) c.1062_1065del (n.1062_1065del) c.1623_1626del c.16478_16481del (p.Lys5493ArgfsTer18) c.470_473del (p.Lys157ArgfsTer18) c.16466_16469del (p.Lys5489ArgfsTer18) c.16469_16472del (p.Lys5490ArgfsTer18) c.512_515del (p.Lys171ArgfsTer18) c.16526_16529del (p.Lys5509ArgfsTer18) c.16523_16526del (p.Lys5508ArgfsTer18) c.16514_16517del (p.Lys5505ArgfsTer18) c.16505_16508del (p.Lys5502ArgfsTer18) c.16460_16463del (p.Lys5487ArgfsTer18) c.16433_16436del (p.Lys5478ArgfsTer18) n.16646_16649del | ClinVar dbSNP |
| 12 | g.49022093C>A | CA384675941 | KMT2D | c.441G>T n.1143G>T n.2105G>T n.877G>T c.16519G>T (p.Glu5507Ter) c.442G>T (p.Glu148Ter) c.1064G>T (n.1064G>T) c.1625G>T c.16480G>T (p.Glu5494Ter) c.472G>T (p.Glu158Ter) c.16468G>T (p.Glu5490Ter) c.16471G>T (p.Glu5491Ter) c.514G>T (p.Glu172Ter) c.16528G>T (p.Glu5510Ter) c.16525G>T (p.Glu5509Ter) c.16516G>T (p.Glu5506Ter) c.16507G>T (p.Glu5503Ter) c.16462G>T (p.Glu5488Ter) c.16435G>T (p.Glu5479Ter) n.16648G>T | |
| 12 | g.49022093C= | CA2034962997 | KMT2D | c.441G= n.1143G= n.2105G= n.877G= c.16519G= (p.Glu5507=) c.442G= (p.Glu148=) c.1064G= (n.1064G=) c.1625G= c.16480G= (p.Glu5494=) c.472G= (p.Glu158=) c.16468G= (p.Glu5490=) c.16471G= (p.Glu5491=) c.514G= (p.Glu172=) c.16528G= (p.Glu5510=) c.16525G= (p.Glu5509=) c.16516G= (p.Glu5506=) c.16507G= (p.Glu5503=) c.16462G= (p.Glu5488=) c.16435G= (p.Glu5479=) n.16648G= | |
| 12 | g.49022093C>G | CA384675942 | KMT2D | c.441G>C n.1143G>C n.2105G>C n.877G>C c.16519G>C (p.Glu5507Gln) c.442G>C (p.Glu148Gln) c.1064G>C (n.1064G>C) c.1625G>C c.16480G>C (p.Glu5494Gln) c.472G>C (p.Glu158Gln) c.16468G>C (p.Glu5490Gln) c.16471G>C (p.Glu5491Gln) c.514G>C (p.Glu172Gln) c.16528G>C (p.Glu5510Gln) c.16525G>C (p.Glu5509Gln) c.16516G>C (p.Glu5506Gln) c.16507G>C (p.Glu5503Gln) c.16462G>C (p.Glu5488Gln) c.16435G>C (p.Glu5479Gln) n.16648G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49022093C>T | CA384675943 | KMT2D | c.441G>A n.1143G>A n.2105G>A n.877G>A c.16519G>A (p.Glu5507Lys) c.442G>A (p.Glu148Lys) c.1064G>A (n.1064G>A) c.1625G>A c.16480G>A (p.Glu5494Lys) c.472G>A (p.Glu158Lys) c.16468G>A (p.Glu5490Lys) c.16471G>A (p.Glu5491Lys) c.514G>A (p.Glu172Lys) c.16528G>A (p.Glu5510Lys) c.16525G>A (p.Glu5509Lys) c.16516G>A (p.Glu5506Lys) c.16507G>A (p.Glu5503Lys) c.16462G>A (p.Glu5488Lys) c.16435G>A (p.Glu5479Lys) n.16648G>A | dbSNP |
| 12 | g.49022093_49022094delinsCT | CA2034962998 | KMT2D | c.440_441delinsAG n.1142_1143delinsAG n.2104_2105delinsAG n.876_877delinsAG c.16518_16519delinsAG (p.Lys5506=) c.441_442delinsAG (p.Lys147=) c.1063_1064delinsAG (n.1063_1064delinsAG) c.1624_1625delinsAG c.16479_16480delinsAG (p.Lys5493=) c.471_472delinsAG (p.Lys157=) c.16467_16468delinsAG (p.Lys5489=) c.16470_16471delinsAG (p.Lys5490=) c.513_514delinsAG (p.Lys171=) c.16527_16528delinsAG (p.Lys5509=) c.16524_16525delinsAG (p.Lys5508=) c.16515_16516delinsAG (p.Lys5505=) c.16506_16507delinsAG (p.Lys5502=) c.16461_16462delinsAG (p.Lys5487=) c.16434_16435delinsAG (p.Lys5478=) n.16647_16648delinsAG | |
| 12 | g.49022094T>A | CA384675945 | KMT2D | c.440A>T n.1142A>T n.2104A>T n.876A>T c.16518A>T (p.Lys5506Asn) c.441A>T (p.Lys147Asn) c.1063A>T (n.1063A>T) c.1624A>T c.16479A>T (p.Lys5493Asn) c.471A>T (p.Lys157Asn) c.16467A>T (p.Lys5489Asn) c.16470A>T (p.Lys5490Asn) c.513A>T (p.Lys171Asn) c.16527A>T (p.Lys5509Asn) c.16524A>T (p.Lys5508Asn) c.16515A>T (p.Lys5505Asn) c.16506A>T (p.Lys5502Asn) c.16461A>T (p.Lys5487Asn) c.16434A>T (p.Lys5478Asn) n.16647A>T | dbSNP |
| 12 | g.49022094T>C | CA6545365 | KMT2D | c.440A>G n.1142A>G n.2104A>G n.876A>G c.16518A>G (p.Lys5506=) c.441A>G (p.Lys147=) c.1063A>G (n.1063A>G) c.1624A>G c.16479A>G (p.Lys5493=) c.471A>G (p.Lys157=) c.16467A>G (p.Lys5489=) c.16470A>G (p.Lys5490=) c.513A>G (p.Lys171=) c.16527A>G (p.Lys5509=) c.16524A>G (p.Lys5508=) c.16515A>G (p.Lys5505=) c.16506A>G (p.Lys5502=) c.16461A>G (p.Lys5487=) c.16434A>G (p.Lys5478=) n.16647A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022094T>G | CA384675948 | KMT2D | c.440A>C n.1142A>C n.2104A>C n.876A>C c.16518A>C (p.Lys5506Asn) c.441A>C (p.Lys147Asn) c.1063A>C (n.1063A>C) c.1624A>C c.16479A>C (p.Lys5493Asn) c.471A>C (p.Lys157Asn) c.16467A>C (p.Lys5489Asn) c.16470A>C (p.Lys5490Asn) c.513A>C (p.Lys171Asn) c.16527A>C (p.Lys5509Asn) c.16524A>C (p.Lys5508Asn) c.16515A>C (p.Lys5505Asn) c.16506A>C (p.Lys5502Asn) c.16461A>C (p.Lys5487Asn) c.16434A>C (p.Lys5478Asn) n.16647A>C | |
| 12 | g.49022094T= | CA2034963001 | KMT2D | c.440A= n.1142A= n.2104A= n.876A= c.16518A= (p.Lys5506=) c.441A= (p.Lys147=) c.1063A= (n.1063A=) c.1624A= c.16479A= (p.Lys5493=) c.471A= (p.Lys157=) c.16467A= (p.Lys5489=) c.16470A= (p.Lys5490=) c.513A= (p.Lys171=) c.16527A= (p.Lys5509=) c.16524A= (p.Lys5508=) c.16515A= (p.Lys5505=) c.16506A= (p.Lys5502=) c.16461A= (p.Lys5487=) c.16434A= (p.Lys5478=) n.16647A= | |
| 12 | g.49022096del | CA658823370 | KMT2D | c.440del n.1142del n.2104del n.876del c.16518del (p.Glu5507ArgfsTer18) c.441del (p.Glu148ArgfsTer18) c.1063del (n.1063del) c.1624del c.16479del (p.Glu5494ArgfsTer18) c.471del (p.Glu158ArgfsTer18) c.16467del (p.Glu5490ArgfsTer18) c.16470del (p.Glu5491ArgfsTer18) c.513del (p.Glu172ArgfsTer18) c.16527del (p.Glu5510ArgfsTer18) c.16524del (p.Glu5509ArgfsTer18) c.16515del (p.Glu5506ArgfsTer18) c.16506del (p.Glu5503ArgfsTer18) c.16461del (p.Glu5488ArgfsTer18) c.16434del (p.Glu5479ArgfsTer18) n.16647del | ClinVar dbSNP |
| 12 | g.49022095_49022096del | CA645594422 | KMT2D | c.439_440del n.1141_1142del n.2103_2104del n.875_876del c.16517_16518del (p.Lys5506ArgfsTer21) c.440_441del (p.Lys147ArgfsTer21) c.1062_1063del (n.1062_1063del) c.1623_1624del c.16478_16479del (p.Lys5493ArgfsTer21) c.470_471del (p.Lys157ArgfsTer21) c.16466_16467del (p.Lys5489ArgfsTer21) c.16469_16470del (p.Lys5490ArgfsTer21) c.512_513del (p.Lys171ArgfsTer21) c.16526_16527del (p.Lys5509ArgfsTer21) c.16523_16524del (p.Lys5508ArgfsTer21) c.16514_16515del (p.Lys5505ArgfsTer21) c.16505_16506del (p.Lys5502ArgfsTer21) c.16460_16461del (p.Lys5487ArgfsTer21) c.16433_16434del (p.Lys5478ArgfsTer21) n.16646_16647del | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49022095T>A | CA384675953 | KMT2D | c.439A>T n.1141A>T n.2103A>T n.875A>T c.16517A>T (p.Lys5506Ile) c.440A>T (p.Lys147Ile) c.1062A>T (n.1062A>T) c.1623A>T c.16478A>T (p.Lys5493Ile) c.470A>T (p.Lys157Ile) c.16466A>T (p.Lys5489Ile) c.16469A>T (p.Lys5490Ile) c.512A>T (p.Lys171Ile) c.16526A>T (p.Lys5509Ile) c.16523A>T (p.Lys5508Ile) c.16514A>T (p.Lys5505Ile) c.16505A>T (p.Lys5502Ile) c.16460A>T (p.Lys5487Ile) c.16433A>T (p.Lys5478Ile) n.16646A>T | dbSNP |
| 12 | g.49022095T>C | CA384675949 | KMT2D | c.439A>G n.1141A>G n.2103A>G n.875A>G c.16517A>G (p.Lys5506Arg) c.440A>G (p.Lys147Arg) c.1062A>G (n.1062A>G) c.1623A>G c.16478A>G (p.Lys5493Arg) c.470A>G (p.Lys157Arg) c.16466A>G (p.Lys5489Arg) c.16469A>G (p.Lys5490Arg) c.512A>G (p.Lys171Arg) c.16526A>G (p.Lys5509Arg) c.16523A>G (p.Lys5508Arg) c.16514A>G (p.Lys5505Arg) c.16505A>G (p.Lys5502Arg) c.16460A>G (p.Lys5487Arg) c.16433A>G (p.Lys5478Arg) n.16646A>G | dbSNP |
| 12 | g.49022095T>G | CA384675951 | KMT2D | c.439A>C n.1141A>C n.2103A>C n.875A>C c.16517A>C (p.Lys5506Thr) c.440A>C (p.Lys147Thr) c.1062A>C (n.1062A>C) c.1623A>C c.16478A>C (p.Lys5493Thr) c.470A>C (p.Lys157Thr) c.16466A>C (p.Lys5489Thr) c.16469A>C (p.Lys5490Thr) c.512A>C (p.Lys171Thr) c.16526A>C (p.Lys5509Thr) c.16523A>C (p.Lys5508Thr) c.16514A>C (p.Lys5505Thr) c.16505A>C (p.Lys5502Thr) c.16460A>C (p.Lys5487Thr) c.16433A>C (p.Lys5478Thr) n.16646A>C | dbSNP |
| 12 | g.49022096T>A | CA384675963 | KMT2D | c.438A>T n.1140A>T n.2102A>T n.874A>T c.16516A>T (p.Lys5506Ter) c.439A>T (p.Lys147Ter) c.1061A>T (n.1061A>T) c.1622A>T c.16477A>T (p.Lys5493Ter) c.469A>T (p.Lys157Ter) c.16465A>T (p.Lys5489Ter) c.16468A>T (p.Lys5490Ter) c.511A>T (p.Lys171Ter) c.16525A>T (p.Lys5509Ter) c.16522A>T (p.Lys5508Ter) c.16513A>T (p.Lys5505Ter) c.16504A>T (p.Lys5502Ter) c.16459A>T (p.Lys5487Ter) c.16432A>T (p.Lys5478Ter) n.16645A>T | |
| 12 | g.49022096T>C | CA384675965 | KMT2D | c.438A>G n.1140A>G n.2102A>G n.874A>G c.16516A>G (p.Lys5506Glu) c.439A>G (p.Lys147Glu) c.1061A>G (n.1061A>G) c.1622A>G c.16477A>G (p.Lys5493Glu) c.469A>G (p.Lys157Glu) c.16465A>G (p.Lys5489Glu) c.16468A>G (p.Lys5490Glu) c.511A>G (p.Lys171Glu) c.16525A>G (p.Lys5509Glu) c.16522A>G (p.Lys5508Glu) c.16513A>G (p.Lys5505Glu) c.16504A>G (p.Lys5502Glu) c.16459A>G (p.Lys5487Glu) c.16432A>G (p.Lys5478Glu) n.16645A>G | |
| 12 | g.49022096T>G | CA384675967 | KMT2D | c.438A>C n.1140A>C n.2102A>C n.874A>C c.16516A>C (p.Lys5506Gln) c.439A>C (p.Lys147Gln) c.1061A>C (n.1061A>C) c.1622A>C c.16477A>C (p.Lys5493Gln) c.469A>C (p.Lys157Gln) c.16465A>C (p.Lys5489Gln) c.16468A>C (p.Lys5490Gln) c.511A>C (p.Lys171Gln) c.16525A>C (p.Lys5509Gln) c.16522A>C (p.Lys5508Gln) c.16513A>C (p.Lys5505Gln) c.16504A>C (p.Lys5502Gln) c.16459A>C (p.Lys5487Gln) c.16432A>C (p.Lys5478Gln) n.16645A>C | |
| 12 | g.49022097G>A | CA479520883 | KMT2D | c.437C>T n.1139C>T n.2101C>T n.873C>T c.16515C>T (p.Asp5505=) c.438C>T (p.Asp146=) c.1060C>T (n.1060C>T) c.1621C>T c.16476C>T (p.Asp5492=) c.468C>T (p.Asp156=) c.16464C>T (p.Asp5488=) c.16467C>T (p.Asp5489=) c.510C>T (p.Asp170=) c.16524C>T (p.Asp5508=) c.16521C>T (p.Asp5507=) c.16512C>T (p.Asp5504=) c.16503C>T (p.Asp5501=) c.16458C>T (p.Asp5486=) c.16431C>T (p.Asp5477=) n.16644C>T | dbSNP |
| 12 | g.49022097G>C | CA384675969 | KMT2D | c.437C>G n.1139C>G n.2101C>G n.873C>G c.16515C>G (p.Asp5505Glu) c.438C>G (p.Asp146Glu) c.1060C>G (n.1060C>G) c.1621C>G c.16476C>G (p.Asp5492Glu) c.468C>G (p.Asp156Glu) c.16464C>G (p.Asp5488Glu) c.16467C>G (p.Asp5489Glu) c.510C>G (p.Asp170Glu) c.16524C>G (p.Asp5508Glu) c.16521C>G (p.Asp5507Glu) c.16512C>G (p.Asp5504Glu) c.16503C>G (p.Asp5501Glu) c.16458C>G (p.Asp5486Glu) c.16431C>G (p.Asp5477Glu) n.16644C>G | ClinVar dbSNP |
| 12 | g.49022097G>T | CA384675970 | KMT2D | c.437C>A n.1139C>A n.2101C>A n.873C>A c.16515C>A (p.Asp5505Glu) c.438C>A (p.Asp146Glu) c.1060C>A (n.1060C>A) c.1621C>A c.16476C>A (p.Asp5492Glu) c.468C>A (p.Asp156Glu) c.16464C>A (p.Asp5488Glu) c.16467C>A (p.Asp5489Glu) c.510C>A (p.Asp170Glu) c.16524C>A (p.Asp5508Glu) c.16521C>A (p.Asp5507Glu) c.16512C>A (p.Asp5504Glu) c.16503C>A (p.Asp5501Glu) c.16458C>A (p.Asp5486Glu) c.16431C>A (p.Asp5477Glu) n.16644C>A | |
| 12 | g.49022098T>A | CA384675974 | KMT2D | c.436A>T n.1138A>T n.2100A>T n.872A>T c.16514A>T (p.Asp5505Val) c.437A>T (p.Asp146Val) c.1059A>T (n.1059A>T) c.1620A>T c.16475A>T (p.Asp5492Val) c.467A>T (p.Asp156Val) c.16463A>T (p.Asp5488Val) c.16466A>T (p.Asp5489Val) c.509A>T (p.Asp170Val) c.16523A>T (p.Asp5508Val) c.16520A>T (p.Asp5507Val) c.16511A>T (p.Asp5504Val) c.16502A>T (p.Asp5501Val) c.16457A>T (p.Asp5486Val) c.16430A>T (p.Asp5477Val) n.16643A>T | dbSNP |
| 12 | g.49022098T>C | CA384675991 | KMT2D | c.436A>G n.1138A>G n.2100A>G n.872A>G c.16514A>G (p.Asp5505Gly) c.437A>G (p.Asp146Gly) c.1059A>G (n.1059A>G) c.1620A>G c.16475A>G (p.Asp5492Gly) c.467A>G (p.Asp156Gly) c.16463A>G (p.Asp5488Gly) c.16466A>G (p.Asp5489Gly) c.509A>G (p.Asp170Gly) c.16523A>G (p.Asp5508Gly) c.16520A>G (p.Asp5507Gly) c.16511A>G (p.Asp5504Gly) c.16502A>G (p.Asp5501Gly) c.16457A>G (p.Asp5486Gly) c.16430A>G (p.Asp5477Gly) n.16643A>G | dbSNP gnomAD v4 |
| 12 | g.49022098T>G | CA384675975 | KMT2D | c.436A>C n.1138A>C n.2100A>C n.872A>C c.16514A>C (p.Asp5505Ala) c.437A>C (p.Asp146Ala) c.1059A>C (n.1059A>C) c.1620A>C c.16475A>C (p.Asp5492Ala) c.467A>C (p.Asp156Ala) c.16463A>C (p.Asp5488Ala) c.16466A>C (p.Asp5489Ala) c.509A>C (p.Asp170Ala) c.16523A>C (p.Asp5508Ala) c.16520A>C (p.Asp5507Ala) c.16511A>C (p.Asp5504Ala) c.16502A>C (p.Asp5501Ala) c.16457A>C (p.Asp5486Ala) c.16430A>C (p.Asp5477Ala) n.16643A>C | dbSNP |
| 12 | g.49022099C>A | CA384675994 | KMT2D | c.435G>T n.1137G>T n.2099G>T n.871G>T c.16513G>T (p.Asp5505Tyr) c.436G>T (p.Asp146Tyr) c.1058G>T (n.1058G>T) c.1619G>T c.16474G>T (p.Asp5492Tyr) c.466G>T (p.Asp156Tyr) c.16462G>T (p.Asp5488Tyr) c.16465G>T (p.Asp5489Tyr) c.508G>T (p.Asp170Tyr) c.16522G>T (p.Asp5508Tyr) c.16519G>T (p.Asp5507Tyr) c.16510G>T (p.Asp5504Tyr) c.16501G>T (p.Asp5501Tyr) c.16456G>T (p.Asp5486Tyr) c.16429G>T (p.Asp5477Tyr) n.16642G>T | |
| 12 | g.49022099C>G | CA384675995 | KMT2D | c.435G>C n.1137G>C n.2099G>C n.871G>C c.16513G>C (p.Asp5505His) c.436G>C (p.Asp146His) c.1058G>C (n.1058G>C) c.1619G>C c.16474G>C (p.Asp5492His) c.466G>C (p.Asp156His) c.16462G>C (p.Asp5488His) c.16465G>C (p.Asp5489His) c.508G>C (p.Asp170His) c.16522G>C (p.Asp5508His) c.16519G>C (p.Asp5507His) c.16510G>C (p.Asp5504His) c.16501G>C (p.Asp5501His) c.16456G>C (p.Asp5486His) c.16429G>C (p.Asp5477His) n.16642G>C | |
| 12 | g.49022099C>T | CA384675996 | KMT2D | c.435G>A n.1137G>A n.2099G>A n.871G>A c.16513G>A (p.Asp5505Asn) c.436G>A (p.Asp146Asn) c.1058G>A (n.1058G>A) c.1619G>A c.16474G>A (p.Asp5492Asn) c.466G>A (p.Asp156Asn) c.16462G>A (p.Asp5488Asn) c.16465G>A (p.Asp5489Asn) c.508G>A (p.Asp170Asn) c.16522G>A (p.Asp5508Asn) c.16519G>A (p.Asp5507Asn) c.16510G>A (p.Asp5504Asn) c.16501G>A (p.Asp5501Asn) c.16456G>A (p.Asp5486Asn) c.16429G>A (p.Asp5477Asn) n.16642G>A | |
| 12 | g.49022100A>C | CA384675997 | KMT2D | c.434T>G n.1136T>G n.2098T>G n.870T>G c.16512T>G (p.Phe5504Leu) c.435T>G (p.Phe145Leu) c.1057T>G (n.1057T>G) c.1618T>G c.16473T>G (p.Phe5491Leu) c.465T>G (p.Phe155Leu) c.16461T>G (p.Phe5487Leu) c.16464T>G (p.Phe5488Leu) c.507T>G (p.Phe169Leu) c.16521T>G (p.Phe5507Leu) c.16518T>G (p.Phe5506Leu) c.16509T>G (p.Phe5503Leu) c.16500T>G (p.Phe5500Leu) c.16455T>G (p.Phe5485Leu) c.16428T>G (p.Phe5476Leu) n.16641T>G | |
| 12 | g.49022100A>G | CA479520885 | KMT2D | c.434T>C n.1136T>C n.2098T>C n.870T>C c.16512T>C (p.Phe5504=) c.435T>C (p.Phe145=) c.1057T>C (n.1057T>C) c.1618T>C c.16473T>C (p.Phe5491=) c.465T>C (p.Phe155=) c.16461T>C (p.Phe5487=) c.16464T>C (p.Phe5488=) c.507T>C (p.Phe169=) c.16521T>C (p.Phe5507=) c.16518T>C (p.Phe5506=) c.16509T>C (p.Phe5503=) c.16500T>C (p.Phe5500=) c.16455T>C (p.Phe5485=) c.16428T>C (p.Phe5476=) n.16641T>C | |
| 12 | g.49022100A>T | CA384675998 | KMT2D | c.434T>A n.1136T>A n.2098T>A n.870T>A c.16512T>A (p.Phe5504Leu) c.435T>A (p.Phe145Leu) c.1057T>A (n.1057T>A) c.1618T>A c.16473T>A (p.Phe5491Leu) c.465T>A (p.Phe155Leu) c.16461T>A (p.Phe5487Leu) c.16464T>A (p.Phe5488Leu) c.507T>A (p.Phe169Leu) c.16521T>A (p.Phe5507Leu) c.16518T>A (p.Phe5506Leu) c.16509T>A (p.Phe5503Leu) c.16500T>A (p.Phe5500Leu) c.16455T>A (p.Phe5485Leu) c.16428T>A (p.Phe5476Leu) n.16641T>A | ClinVar dbSNP |
| 12 | g.49022101A>C | CA384676000 | KMT2D | c.433T>G n.1135T>G n.2097T>G n.869T>G c.16511T>G (p.Phe5504Cys) c.434T>G (p.Phe145Cys) c.1056T>G (n.1056T>G) c.1617T>G c.16472T>G (p.Phe5491Cys) c.464T>G (p.Phe155Cys) c.16460T>G (p.Phe5487Cys) c.16463T>G (p.Phe5488Cys) c.506T>G (p.Phe169Cys) c.16520T>G (p.Phe5507Cys) c.16517T>G (p.Phe5506Cys) c.16508T>G (p.Phe5503Cys) c.16499T>G (p.Phe5500Cys) c.16454T>G (p.Phe5485Cys) c.16427T>G (p.Phe5476Cys) n.16640T>G | |
| 12 | g.49022101A>G | CA384676011 | KMT2D | c.433T>C n.1135T>C n.2097T>C n.869T>C c.16511T>C (p.Phe5504Ser) c.434T>C (p.Phe145Ser) c.1056T>C (n.1056T>C) c.1617T>C c.16472T>C (p.Phe5491Ser) c.464T>C (p.Phe155Ser) c.16460T>C (p.Phe5487Ser) c.16463T>C (p.Phe5488Ser) c.506T>C (p.Phe169Ser) c.16520T>C (p.Phe5507Ser) c.16517T>C (p.Phe5506Ser) c.16508T>C (p.Phe5503Ser) c.16499T>C (p.Phe5500Ser) c.16454T>C (p.Phe5485Ser) c.16427T>C (p.Phe5476Ser) n.16640T>C | |
| 12 | g.49022101A>T | CA384676013 | KMT2D | c.433T>A n.1135T>A n.2097T>A n.869T>A c.16511T>A (p.Phe5504Tyr) c.434T>A (p.Phe145Tyr) c.1056T>A (n.1056T>A) c.1617T>A c.16472T>A (p.Phe5491Tyr) c.464T>A (p.Phe155Tyr) c.16460T>A (p.Phe5487Tyr) c.16463T>A (p.Phe5488Tyr) c.506T>A (p.Phe169Tyr) c.16520T>A (p.Phe5507Tyr) c.16517T>A (p.Phe5506Tyr) c.16508T>A (p.Phe5503Tyr) c.16499T>A (p.Phe5500Tyr) c.16454T>A (p.Phe5485Tyr) c.16427T>A (p.Phe5476Tyr) n.16640T>A | dbSNP |
| 12 | g.49022102A>C | CA384676019 | KMT2D | c.432T>G n.1134T>G n.2096T>G n.868T>G c.16510T>G (p.Phe5504Val) c.433T>G (p.Phe145Val) c.1055T>G (n.1055T>G) c.1616T>G c.16471T>G (p.Phe5491Val) c.463T>G (p.Phe155Val) c.16459T>G (p.Phe5487Val) c.16462T>G (p.Phe5488Val) c.505T>G (p.Phe169Val) c.16519T>G (p.Phe5507Val) c.16516T>G (p.Phe5506Val) c.16507T>G (p.Phe5503Val) c.16498T>G (p.Phe5500Val) c.16453T>G (p.Phe5485Val) c.16426T>G (p.Phe5476Val) n.16639T>G | |
| 12 | g.49022102A>G | CA384676023 | KMT2D | c.432T>C n.1134T>C n.2096T>C n.868T>C c.16510T>C (p.Phe5504Leu) c.433T>C (p.Phe145Leu) c.1055T>C (n.1055T>C) c.1616T>C c.16471T>C (p.Phe5491Leu) c.463T>C (p.Phe155Leu) c.16459T>C (p.Phe5487Leu) c.16462T>C (p.Phe5488Leu) c.505T>C (p.Phe169Leu) c.16519T>C (p.Phe5507Leu) c.16516T>C (p.Phe5506Leu) c.16507T>C (p.Phe5503Leu) c.16498T>C (p.Phe5500Leu) c.16453T>C (p.Phe5485Leu) c.16426T>C (p.Phe5476Leu) n.16639T>C | |
| 12 | g.49022102A>T | CA384676034 | KMT2D | c.432T>A n.1134T>A n.2096T>A n.868T>A c.16510T>A (p.Phe5504Ile) c.433T>A (p.Phe145Ile) c.1055T>A (n.1055T>A) c.1616T>A c.16471T>A (p.Phe5491Ile) c.463T>A (p.Phe155Ile) c.16459T>A (p.Phe5487Ile) c.16462T>A (p.Phe5488Ile) c.505T>A (p.Phe169Ile) c.16519T>A (p.Phe5507Ile) c.16516T>A (p.Phe5506Ile) c.16507T>A (p.Phe5503Ile) c.16498T>A (p.Phe5500Ile) c.16453T>A (p.Phe5485Ile) c.16426T>A (p.Phe5476Ile) n.16639T>A | dbSNP |
| 12 | g.49022103T>A | CA479520888 | KMT2D | c.431A>T n.1133A>T n.2095A>T n.867A>T c.16509A>T (p.Thr5503=) c.432A>T (p.Thr144=) c.1054A>T (n.1054A>T) c.1615A>T c.16470A>T (p.Thr5490=) c.462A>T (p.Thr154=) c.16458A>T (p.Thr5486=) c.16461A>T (p.Thr5487=) c.504A>T (p.Thr168=) c.16518A>T (p.Thr5506=) c.16515A>T (p.Thr5505=) c.16506A>T (p.Thr5502=) c.16497A>T (p.Thr5499=) c.16452A>T (p.Thr5484=) c.16425A>T (p.Thr5475=) n.16638A>T | dbSNP |
| 12 | g.49022103T>C | CA6545366 | KMT2D | c.431A>G n.1133A>G n.2095A>G n.867A>G c.16509A>G (p.Thr5503=) c.432A>G (p.Thr144=) c.1054A>G (n.1054A>G) c.1615A>G c.16470A>G (p.Thr5490=) c.462A>G (p.Thr154=) c.16458A>G (p.Thr5486=) c.16461A>G (p.Thr5487=) c.504A>G (p.Thr168=) c.16518A>G (p.Thr5506=) c.16515A>G (p.Thr5505=) c.16506A>G (p.Thr5502=) c.16497A>G (p.Thr5499=) c.16452A>G (p.Thr5484=) c.16425A>G (p.Thr5475=) n.16638A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022103T>G | CA479520889 | KMT2D | c.431A>C n.1133A>C n.2095A>C n.867A>C c.16509A>C (p.Thr5503=) c.432A>C (p.Thr144=) c.1054A>C (n.1054A>C) c.1615A>C c.16470A>C (p.Thr5490=) c.462A>C (p.Thr154=) c.16458A>C (p.Thr5486=) c.16461A>C (p.Thr5487=) c.504A>C (p.Thr168=) c.16518A>C (p.Thr5506=) c.16515A>C (p.Thr5505=) c.16506A>C (p.Thr5502=) c.16497A>C (p.Thr5499=) c.16452A>C (p.Thr5484=) c.16425A>C (p.Thr5475=) n.16638A>C | dbSNP |
| 12 | g.49022103T= | CA2034963003 | KMT2D | c.431A= n.1133A= n.2095A= n.867A= c.16509A= (p.Thr5503=) c.432A= (p.Thr144=) c.1054A= (n.1054A=) c.1615A= c.16470A= (p.Thr5490=) c.462A= (p.Thr154=) c.16458A= (p.Thr5486=) c.16461A= (p.Thr5487=) c.504A= (p.Thr168=) c.16518A= (p.Thr5506=) c.16515A= (p.Thr5505=) c.16506A= (p.Thr5502=) c.16497A= (p.Thr5499=) c.16452A= (p.Thr5484=) c.16425A= (p.Thr5475=) n.16638A= | |
| 12 | g.49022104G>A | CA384676037 | KMT2D | c.430C>T n.1132C>T n.2094C>T n.866C>T c.16508C>T (p.Thr5503Ile) c.431C>T (p.Thr144Ile) c.1053C>T (n.1053C>T) c.1614C>T c.16469C>T (p.Thr5490Ile) c.461C>T (p.Thr154Ile) c.16457C>T (p.Thr5486Ile) c.16460C>T (p.Thr5487Ile) c.503C>T (p.Thr168Ile) c.16517C>T (p.Thr5506Ile) c.16514C>T (p.Thr5505Ile) c.16505C>T (p.Thr5502Ile) c.16496C>T (p.Thr5499Ile) c.16451C>T (p.Thr5484Ile) c.16424C>T (p.Thr5475Ile) n.16637C>T | dbSNP |
| 12 | g.49022104G>C | CA384676041 | KMT2D | c.430C>G n.1132C>G n.2094C>G n.866C>G c.16508C>G (p.Thr5503Arg) c.431C>G (p.Thr144Arg) c.1053C>G (n.1053C>G) c.1614C>G c.16469C>G (p.Thr5490Arg) c.461C>G (p.Thr154Arg) c.16457C>G (p.Thr5486Arg) c.16460C>G (p.Thr5487Arg) c.503C>G (p.Thr168Arg) c.16517C>G (p.Thr5506Arg) c.16514C>G (p.Thr5505Arg) c.16505C>G (p.Thr5502Arg) c.16496C>G (p.Thr5499Arg) c.16451C>G (p.Thr5484Arg) c.16424C>G (p.Thr5475Arg) n.16637C>G | dbSNP |
| 12 | g.49022104G>T | CA384676039 | KMT2D | c.430C>A n.1132C>A n.2094C>A n.866C>A c.16508C>A (p.Thr5503Lys) c.431C>A (p.Thr144Lys) c.1053C>A (n.1053C>A) c.1614C>A c.16469C>A (p.Thr5490Lys) c.461C>A (p.Thr154Lys) c.16457C>A (p.Thr5486Lys) c.16460C>A (p.Thr5487Lys) c.503C>A (p.Thr168Lys) c.16517C>A (p.Thr5506Lys) c.16514C>A (p.Thr5505Lys) c.16505C>A (p.Thr5502Lys) c.16496C>A (p.Thr5499Lys) c.16451C>A (p.Thr5484Lys) c.16424C>A (p.Thr5475Lys) n.16637C>A | |
| 12 | g.49022105T>A | CA384676043 | KMT2D | c.429A>T n.1131A>T n.2093A>T n.865A>T c.16507A>T (p.Thr5503Ser) c.430A>T (p.Thr144Ser) c.1052A>T (n.1052A>T) c.1613A>T c.16468A>T (p.Thr5490Ser) c.460A>T (p.Thr154Ser) c.16456A>T (p.Thr5486Ser) c.16459A>T (p.Thr5487Ser) c.502A>T (p.Thr168Ser) c.16516A>T (p.Thr5506Ser) c.16513A>T (p.Thr5505Ser) c.16504A>T (p.Thr5502Ser) c.16495A>T (p.Thr5499Ser) c.16450A>T (p.Thr5484Ser) c.16423A>T (p.Thr5475Ser) n.16636A>T | dbSNP |
| 12 | g.49022105T>C | CA384676064 | KMT2D | c.429A>G n.1131A>G n.2093A>G n.865A>G c.16507A>G (p.Thr5503Ala) c.430A>G (p.Thr144Ala) c.1052A>G (n.1052A>G) c.1613A>G c.16468A>G (p.Thr5490Ala) c.460A>G (p.Thr154Ala) c.16456A>G (p.Thr5486Ala) c.16459A>G (p.Thr5487Ala) c.502A>G (p.Thr168Ala) c.16516A>G (p.Thr5506Ala) c.16513A>G (p.Thr5505Ala) c.16504A>G (p.Thr5502Ala) c.16495A>G (p.Thr5499Ala) c.16450A>G (p.Thr5484Ala) c.16423A>G (p.Thr5475Ala) n.16636A>G | dbSNP |
| 12 | g.49022105T>G | CA384676046 | KMT2D | c.429A>C n.1131A>C n.2093A>C n.865A>C c.16507A>C (p.Thr5503Pro) c.430A>C (p.Thr144Pro) c.1052A>C (n.1052A>C) c.1613A>C c.16468A>C (p.Thr5490Pro) c.460A>C (p.Thr154Pro) c.16456A>C (p.Thr5486Pro) c.16459A>C (p.Thr5487Pro) c.502A>C (p.Thr168Pro) c.16516A>C (p.Thr5506Pro) c.16513A>C (p.Thr5505Pro) c.16504A>C (p.Thr5502Pro) c.16495A>C (p.Thr5499Pro) c.16450A>C (p.Thr5484Pro) c.16423A>C (p.Thr5475Pro) n.16636A>C | dbSNP |
| 12 | g.49022106C>A | CA479520893 | KMT2D | c.428G>T n.1130G>T n.2092G>T n.864G>T c.16506G>T (p.Val5502=) c.429G>T (p.Val143=) c.1051G>T (n.1051G>T) c.1612G>T c.16467G>T (p.Val5489=) c.459G>T (p.Val153=) c.16455G>T (p.Val5485=) c.16458G>T (p.Val5486=) c.501G>T (p.Val167=) c.16515G>T (p.Val5505=) c.16512G>T (p.Val5504=) c.16503G>T (p.Val5501=) c.16494G>T (p.Val5498=) c.16449G>T (p.Val5483=) c.16422G>T (p.Val5474=) n.16635G>T | dbSNP |
| 12 | g.49022106C>G | CA479520894 | KMT2D | c.428G>C n.1130G>C n.2092G>C n.864G>C c.16506G>C (p.Val5502=) c.429G>C (p.Val143=) c.1051G>C (n.1051G>C) c.1612G>C c.16467G>C (p.Val5489=) c.459G>C (p.Val153=) c.16455G>C (p.Val5485=) c.16458G>C (p.Val5486=) c.501G>C (p.Val167=) c.16515G>C (p.Val5505=) c.16512G>C (p.Val5504=) c.16503G>C (p.Val5501=) c.16494G>C (p.Val5498=) c.16449G>C (p.Val5483=) c.16422G>C (p.Val5474=) n.16635G>C | dbSNP |
| 12 | g.49022106C>T | CA479520895 | KMT2D | c.428G>A n.1130G>A n.2092G>A n.864G>A c.16506G>A (p.Val5502=) c.429G>A (p.Val143=) c.1051G>A (n.1051G>A) c.1612G>A c.16467G>A (p.Val5489=) c.459G>A (p.Val153=) c.16455G>A (p.Val5485=) c.16458G>A (p.Val5486=) c.501G>A (p.Val167=) c.16515G>A (p.Val5505=) c.16512G>A (p.Val5504=) c.16503G>A (p.Val5501=) c.16494G>A (p.Val5498=) c.16449G>A (p.Val5483=) c.16422G>A (p.Val5474=) n.16635G>A | dbSNP |
| 12 | g.49022107A>C | CA384676067 | KMT2D | c.427T>G n.1129T>G n.2091T>G n.863T>G c.16505T>G (p.Val5502Gly) c.428T>G (p.Val143Gly) c.1050T>G (n.1050T>G) c.1611T>G c.16466T>G (p.Val5489Gly) c.458T>G (p.Val153Gly) c.16454T>G (p.Val5485Gly) c.16457T>G (p.Val5486Gly) c.500T>G (p.Val167Gly) c.16514T>G (p.Val5505Gly) c.16511T>G (p.Val5504Gly) c.16502T>G (p.Val5501Gly) c.16493T>G (p.Val5498Gly) c.16448T>G (p.Val5483Gly) c.16421T>G (p.Val5474Gly) n.16634T>G | |
| 12 | g.49022107A>G | CA384676071 | KMT2D | c.427T>C n.1129T>C n.2091T>C n.863T>C c.16505T>C (p.Val5502Ala) c.428T>C (p.Val143Ala) c.1050T>C (n.1050T>C) c.1611T>C c.16466T>C (p.Val5489Ala) c.458T>C (p.Val153Ala) c.16454T>C (p.Val5485Ala) c.16457T>C (p.Val5486Ala) c.500T>C (p.Val167Ala) c.16514T>C (p.Val5505Ala) c.16511T>C (p.Val5504Ala) c.16502T>C (p.Val5501Ala) c.16493T>C (p.Val5498Ala) c.16448T>C (p.Val5483Ala) c.16421T>C (p.Val5474Ala) n.16634T>C | |
| 12 | g.49022107A>T | CA384676100 | KMT2D | c.427T>A n.1129T>A n.2091T>A n.863T>A c.16505T>A (p.Val5502Glu) c.428T>A (p.Val143Glu) c.1050T>A (n.1050T>A) c.1611T>A c.16466T>A (p.Val5489Glu) c.458T>A (p.Val153Glu) c.16454T>A (p.Val5485Glu) c.16457T>A (p.Val5486Glu) c.500T>A (p.Val167Glu) c.16514T>A (p.Val5505Glu) c.16511T>A (p.Val5504Glu) c.16502T>A (p.Val5501Glu) c.16493T>A (p.Val5498Glu) c.16448T>A (p.Val5483Glu) c.16421T>A (p.Val5474Glu) n.16634T>A | dbSNP |
| 12 | g.49022108C>A | CA384676108 | KMT2D | c.426G>T n.1128G>T n.2090G>T n.862G>T c.16504G>T (p.Val5502Leu) c.427G>T (p.Val143Leu) c.1049G>T (n.1049G>T) c.1610G>T c.16465G>T (p.Val5489Leu) c.457G>T (p.Val153Leu) c.16453G>T (p.Val5485Leu) c.16456G>T (p.Val5486Leu) c.499G>T (p.Val167Leu) c.16513G>T (p.Val5505Leu) c.16510G>T (p.Val5504Leu) c.16501G>T (p.Val5501Leu) c.16492G>T (p.Val5498Leu) c.16447G>T (p.Val5483Leu) c.16420G>T (p.Val5474Leu) n.16633G>T | |
| 12 | g.49022108C>G | CA384676111 | KMT2D | c.426G>C n.1128G>C n.2090G>C n.862G>C c.16504G>C (p.Val5502Leu) c.427G>C (p.Val143Leu) c.1049G>C (n.1049G>C) c.1610G>C c.16465G>C (p.Val5489Leu) c.457G>C (p.Val153Leu) c.16453G>C (p.Val5485Leu) c.16456G>C (p.Val5486Leu) c.499G>C (p.Val167Leu) c.16513G>C (p.Val5505Leu) c.16510G>C (p.Val5504Leu) c.16501G>C (p.Val5501Leu) c.16492G>C (p.Val5498Leu) c.16447G>C (p.Val5483Leu) c.16420G>C (p.Val5474Leu) n.16633G>C | dbSNP |
| 12 | g.49022108C>T | CA384676116 | KMT2D | c.426G>A n.1128G>A n.2090G>A n.862G>A c.16504G>A (p.Val5502Met) c.427G>A (p.Val143Met) c.1049G>A (n.1049G>A) c.1610G>A c.16465G>A (p.Val5489Met) c.457G>A (p.Val153Met) c.16453G>A (p.Val5485Met) c.16456G>A (p.Val5486Met) c.499G>A (p.Val167Met) c.16513G>A (p.Val5505Met) c.16510G>A (p.Val5504Met) c.16501G>A (p.Val5501Met) c.16492G>A (p.Val5498Met) c.16447G>A (p.Val5483Met) c.16420G>A (p.Val5474Met) n.16633G>A | dbSNP gnomAD v4 |
| 12 | g.49022109G>A | CA6545367 | KMT2D | c.425C>T n.1127C>T n.2089C>T n.861C>T c.16503C>T (p.Val5501=) c.426C>T (p.Val142=) c.1048C>T (n.1048C>T) c.1609C>T c.16464C>T (p.Val5488=) c.456C>T (p.Val152=) c.16452C>T (p.Val5484=) c.16455C>T (p.Val5485=) c.498C>T (p.Val166=) c.16512C>T (p.Val5504=) c.16509C>T (p.Val5503=) c.16500C>T (p.Val5500=) c.16491C>T (p.Val5497=) c.16446C>T (p.Val5482=) c.16419C>T (p.Val5473=) n.16632C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022109G>C | CA479520897 | KMT2D | c.425C>G n.1127C>G n.2089C>G n.861C>G c.16503C>G (p.Val5501=) c.426C>G (p.Val142=) c.1048C>G (n.1048C>G) c.1609C>G c.16464C>G (p.Val5488=) c.456C>G (p.Val152=) c.16452C>G (p.Val5484=) c.16455C>G (p.Val5485=) c.498C>G (p.Val166=) c.16512C>G (p.Val5504=) c.16509C>G (p.Val5503=) c.16500C>G (p.Val5500=) c.16491C>G (p.Val5497=) c.16446C>G (p.Val5482=) c.16419C>G (p.Val5473=) n.16632C>G | dbSNP gnomAD v4 |
| 12 | g.49022109G= | CA2034963004 | KMT2D | c.425C= n.1127C= n.2089C= n.861C= c.16503C= (p.Val5501=) c.426C= (p.Val142=) c.1048C= (n.1048C=) c.1609C= c.16464C= (p.Val5488=) c.456C= (p.Val152=) c.16452C= (p.Val5484=) c.16455C= (p.Val5485=) c.498C= (p.Val166=) c.16512C= (p.Val5504=) c.16509C= (p.Val5503=) c.16500C= (p.Val5500=) c.16491C= (p.Val5497=) c.16446C= (p.Val5482=) c.16419C= (p.Val5473=) n.16632C= | |
| 12 | g.49022109G>T | CA479520898 | KMT2D | c.425C>A n.1127C>A n.2089C>A n.861C>A c.16503C>A (p.Val5501=) c.426C>A (p.Val142=) c.1048C>A (n.1048C>A) c.1609C>A c.16464C>A (p.Val5488=) c.456C>A (p.Val152=) c.16452C>A (p.Val5484=) c.16455C>A (p.Val5485=) c.498C>A (p.Val166=) c.16512C>A (p.Val5504=) c.16509C>A (p.Val5503=) c.16500C>A (p.Val5500=) c.16491C>A (p.Val5497=) c.16446C>A (p.Val5482=) c.16419C>A (p.Val5473=) n.16632C>A | dbSNP gnomAD v4 |
| 12 | g.49022110A>C | CA384676119 | KMT2D | c.424T>G n.1126T>G n.2088T>G n.860T>G c.16502T>G (p.Val5501Gly) c.425T>G (p.Val142Gly) c.1047T>G (n.1047T>G) c.1608T>G c.16463T>G (p.Val5488Gly) c.455T>G (p.Val152Gly) c.16451T>G (p.Val5484Gly) c.16454T>G (p.Val5485Gly) c.497T>G (p.Val166Gly) c.16511T>G (p.Val5504Gly) c.16508T>G (p.Val5503Gly) c.16499T>G (p.Val5500Gly) c.16490T>G (p.Val5497Gly) c.16445T>G (p.Val5482Gly) c.16418T>G (p.Val5473Gly) n.16631T>G | dbSNP |
| 12 | g.49022110A>G | CA384676123 | KMT2D | c.424T>C n.1126T>C n.2088T>C n.860T>C c.16502T>C (p.Val5501Ala) c.425T>C (p.Val142Ala) c.1047T>C (n.1047T>C) c.1608T>C c.16463T>C (p.Val5488Ala) c.455T>C (p.Val152Ala) c.16451T>C (p.Val5484Ala) c.16454T>C (p.Val5485Ala) c.497T>C (p.Val166Ala) c.16511T>C (p.Val5504Ala) c.16508T>C (p.Val5503Ala) c.16499T>C (p.Val5500Ala) c.16490T>C (p.Val5497Ala) c.16445T>C (p.Val5482Ala) c.16418T>C (p.Val5473Ala) n.16631T>C | dbSNP |
| 12 | g.49022110A>T | CA384676131 | KMT2D | c.424T>A n.1126T>A n.2088T>A n.860T>A c.16502T>A (p.Val5501Asp) c.425T>A (p.Val142Asp) c.1047T>A (n.1047T>A) c.1608T>A c.16463T>A (p.Val5488Asp) c.455T>A (p.Val152Asp) c.16451T>A (p.Val5484Asp) c.16454T>A (p.Val5485Asp) c.497T>A (p.Val166Asp) c.16511T>A (p.Val5504Asp) c.16508T>A (p.Val5503Asp) c.16499T>A (p.Val5500Asp) c.16490T>A (p.Val5497Asp) c.16445T>A (p.Val5482Asp) c.16418T>A (p.Val5473Asp) n.16631T>A | dbSNP |
| 12 | g.49022111C>A | CA384676143 | KMT2D | c.423G>T n.1125G>T n.2087G>T n.859G>T c.16501G>T (p.Val5501Phe) c.424G>T (p.Val142Phe) c.1046G>T (n.1046G>T) c.1607G>T c.16462G>T (p.Val5488Phe) c.454G>T (p.Val152Phe) c.16450G>T (p.Val5484Phe) c.16453G>T (p.Val5485Phe) c.496G>T (p.Val166Phe) c.16510G>T (p.Val5504Phe) c.16507G>T (p.Val5503Phe) c.16498G>T (p.Val5500Phe) c.16489G>T (p.Val5497Phe) c.16444G>T (p.Val5482Phe) c.16417G>T (p.Val5473Phe) n.16630G>T | dbSNP |
| 12 | g.49022111C>G | CA384676140 | KMT2D | c.423G>C n.1125G>C n.2087G>C n.859G>C c.16501G>C (p.Val5501Leu) c.424G>C (p.Val142Leu) c.1046G>C (n.1046G>C) c.1607G>C c.16462G>C (p.Val5488Leu) c.454G>C (p.Val152Leu) c.16450G>C (p.Val5484Leu) c.16453G>C (p.Val5485Leu) c.496G>C (p.Val166Leu) c.16510G>C (p.Val5504Leu) c.16507G>C (p.Val5503Leu) c.16498G>C (p.Val5500Leu) c.16489G>C (p.Val5497Leu) c.16444G>C (p.Val5482Leu) c.16417G>C (p.Val5473Leu) n.16630G>C | dbSNP |
| 12 | g.49022111C>T | CA384676135 | KMT2D | c.423G>A n.1125G>A n.2087G>A n.859G>A c.16501G>A (p.Val5501Ile) c.424G>A (p.Val142Ile) c.1046G>A (n.1046G>A) c.1607G>A c.16462G>A (p.Val5488Ile) c.454G>A (p.Val152Ile) c.16450G>A (p.Val5484Ile) c.16453G>A (p.Val5485Ile) c.496G>A (p.Val166Ile) c.16510G>A (p.Val5504Ile) c.16507G>A (p.Val5503Ile) c.16498G>A (p.Val5500Ile) c.16489G>A (p.Val5497Ile) c.16444G>A (p.Val5482Ile) c.16417G>A (p.Val5473Ile) n.16630G>A | |
| 12 | g.49022112T>A | CA384676146 | KMT2D | c.422A>T n.1124A>T n.2086A>T n.858A>T c.16500A>T (p.Glu5500Asp) c.423A>T (p.Glu141Asp) c.1045A>T (n.1045A>T) c.1606A>T c.16461A>T (p.Glu5487Asp) c.453A>T (p.Glu151Asp) c.16449A>T (p.Glu5483Asp) c.16452A>T (p.Glu5484Asp) c.495A>T (p.Glu165Asp) c.16509A>T (p.Glu5503Asp) c.16506A>T (p.Glu5502Asp) c.16497A>T (p.Glu5499Asp) c.16488A>T (p.Glu5496Asp) c.16443A>T (p.Glu5481Asp) c.16416A>T (p.Glu5472Asp) n.16629A>T | |
| 12 | g.49022112T>C | CA479520902 | KMT2D | c.422A>G n.1124A>G n.2086A>G n.858A>G c.16500A>G (p.Glu5500=) c.423A>G (p.Glu141=) c.1045A>G (n.1045A>G) c.1606A>G c.16461A>G (p.Glu5487=) c.453A>G (p.Glu151=) c.16449A>G (p.Glu5483=) c.16452A>G (p.Glu5484=) c.495A>G (p.Glu165=) c.16509A>G (p.Glu5503=) c.16506A>G (p.Glu5502=) c.16497A>G (p.Glu5499=) c.16488A>G (p.Glu5496=) c.16443A>G (p.Glu5481=) c.16416A>G (p.Glu5472=) n.16629A>G | gnomAD v4 |
| 12 | g.49022112T>G | CA384676149 | KMT2D | c.422A>C n.1124A>C n.2086A>C n.858A>C c.16500A>C (p.Glu5500Asp) c.423A>C (p.Glu141Asp) c.1045A>C (n.1045A>C) c.1606A>C c.16461A>C (p.Glu5487Asp) c.453A>C (p.Glu151Asp) c.16449A>C (p.Glu5483Asp) c.16452A>C (p.Glu5484Asp) c.495A>C (p.Glu165Asp) c.16509A>C (p.Glu5503Asp) c.16506A>C (p.Glu5502Asp) c.16497A>C (p.Glu5499Asp) c.16488A>C (p.Glu5496Asp) c.16443A>C (p.Glu5481Asp) c.16416A>C (p.Glu5472Asp) n.16629A>C | |
| 12 | g.49022113T>A | CA384676151 | KMT2D | c.421A>T n.1123A>T n.2085A>T n.857A>T c.16499A>T (p.Glu5500Val) c.422A>T (p.Glu141Val) c.1044A>T (n.1044A>T) c.1605A>T c.16460A>T (p.Glu5487Val) c.452A>T (p.Glu151Val) c.16448A>T (p.Glu5483Val) c.16451A>T (p.Glu5484Val) c.494A>T (p.Glu165Val) c.16508A>T (p.Glu5503Val) c.16505A>T (p.Glu5502Val) c.16496A>T (p.Glu5499Val) c.16487A>T (p.Glu5496Val) c.16442A>T (p.Glu5481Val) c.16415A>T (p.Glu5472Val) n.16628A>T | dbSNP |
| 12 | g.49022113T>C | CA384676154 | KMT2D | c.421A>G n.1123A>G n.2085A>G n.857A>G c.16499A>G (p.Glu5500Gly) c.422A>G (p.Glu141Gly) c.1044A>G (n.1044A>G) c.1605A>G c.16460A>G (p.Glu5487Gly) c.452A>G (p.Glu151Gly) c.16448A>G (p.Glu5483Gly) c.16451A>G (p.Glu5484Gly) c.494A>G (p.Glu165Gly) c.16508A>G (p.Glu5503Gly) c.16505A>G (p.Glu5502Gly) c.16496A>G (p.Glu5499Gly) c.16487A>G (p.Glu5496Gly) c.16442A>G (p.Glu5481Gly) c.16415A>G (p.Glu5472Gly) n.16628A>G | |
| 12 | g.49022113T>G | CA384676156 | KMT2D | c.421A>C n.1123A>C n.2085A>C n.857A>C c.16499A>C (p.Glu5500Ala) c.422A>C (p.Glu141Ala) c.1044A>C (n.1044A>C) c.1605A>C c.16460A>C (p.Glu5487Ala) c.452A>C (p.Glu151Ala) c.16448A>C (p.Glu5483Ala) c.16451A>C (p.Glu5484Ala) c.494A>C (p.Glu165Ala) c.16508A>C (p.Glu5503Ala) c.16505A>C (p.Glu5502Ala) c.16496A>C (p.Glu5499Ala) c.16487A>C (p.Glu5496Ala) c.16442A>C (p.Glu5481Ala) c.16415A>C (p.Glu5472Ala) n.16628A>C | |
| 12 | g.49022114C>A | CA384676158 | KMT2D | c.420G>T n.1122G>T n.2084G>T n.856G>T c.16498G>T (p.Glu5500Ter) c.421G>T (p.Glu141Ter) c.1043G>T (n.1043G>T) c.1604G>T c.16459G>T (p.Glu5487Ter) c.451G>T (p.Glu151Ter) c.16447G>T (p.Glu5483Ter) c.16450G>T (p.Glu5484Ter) c.493G>T (p.Glu165Ter) c.16507G>T (p.Glu5503Ter) c.16504G>T (p.Glu5502Ter) c.16495G>T (p.Glu5499Ter) c.16486G>T (p.Glu5496Ter) c.16441G>T (p.Glu5481Ter) c.16414G>T (p.Glu5472Ter) n.16627G>T | dbSNP |
| 12 | g.49022114C>G | CA384676163 | KMT2D | c.420G>C n.1122G>C n.2084G>C n.856G>C c.16498G>C (p.Glu5500Gln) c.421G>C (p.Glu141Gln) c.1043G>C (n.1043G>C) c.1604G>C c.16459G>C (p.Glu5487Gln) c.451G>C (p.Glu151Gln) c.16447G>C (p.Glu5483Gln) c.16450G>C (p.Glu5484Gln) c.493G>C (p.Glu165Gln) c.16507G>C (p.Glu5503Gln) c.16504G>C (p.Glu5502Gln) c.16495G>C (p.Glu5499Gln) c.16486G>C (p.Glu5496Gln) c.16441G>C (p.Glu5481Gln) c.16414G>C (p.Glu5472Gln) n.16627G>C | dbSNP |
| 12 | g.49022114C>T | CA384676173 | KMT2D | c.420G>A n.1122G>A n.2084G>A n.856G>A c.16498G>A (p.Glu5500Lys) c.421G>A (p.Glu141Lys) c.1043G>A (n.1043G>A) c.1604G>A c.16459G>A (p.Glu5487Lys) c.451G>A (p.Glu151Lys) c.16447G>A (p.Glu5483Lys) c.16450G>A (p.Glu5484Lys) c.493G>A (p.Glu165Lys) c.16507G>A (p.Glu5503Lys) c.16504G>A (p.Glu5502Lys) c.16495G>A (p.Glu5499Lys) c.16486G>A (p.Glu5496Lys) c.16441G>A (p.Glu5481Lys) c.16414G>A (p.Glu5472Lys) n.16627G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.49022114_49022115delinsT | CA645594423 | KMT2D | c.419_420delinsA n.1121_1122delinsA n.2083_2084delinsA n.855_856delinsA c.16497_16498delinsA (p.Glu5500LysfsTer3) c.420_421delinsA (p.Glu141LysfsTer3) c.1042_1043delinsA (n.1042_1043delinsA) c.1603_1604delinsA c.16458_16459delinsA (p.Glu5487LysfsTer3) c.450_451delinsA (p.Glu151LysfsTer3) c.16446_16447delinsA (p.Glu5483LysfsTer3) c.16449_16450delinsA (p.Glu5484LysfsTer3) c.492_493delinsA (p.Glu165LysfsTer3) c.16506_16507delinsA (p.Glu5503LysfsTer3) c.16503_16504delinsA (p.Glu5502LysfsTer3) c.16494_16495delinsA (p.Glu5499LysfsTer3) c.16485_16486delinsA (p.Glu5496LysfsTer3) c.16440_16441delinsA (p.Glu5481LysfsTer3) c.16413_16414delinsA (p.Glu5472LysfsTer3) n.16626_16627delinsA | COSMIC COSMIC |
| 12 | g.49022115G>A | CA6545368 | KMT2D | c.419C>T n.1121C>T n.2083C>T n.855C>T c.16497C>T (p.Ala5499=) c.420C>T (p.Ala140=) c.1042C>T (n.1042C>T) c.1603C>T c.16458C>T (p.Ala5486=) c.450C>T (p.Ala150=) c.16446C>T (p.Ala5482=) c.16449C>T (p.Ala5483=) c.492C>T (p.Ala164=) c.16506C>T (p.Ala5502=) c.16503C>T (p.Ala5501=) c.16494C>T (p.Ala5498=) c.16485C>T (p.Ala5495=) c.16440C>T (p.Ala5480=) c.16413C>T (p.Ala5471=) n.16626C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022115G>C | CA479520904 | KMT2D | c.419C>G n.1121C>G n.2083C>G n.855C>G c.16497C>G (p.Ala5499=) c.420C>G (p.Ala140=) c.1042C>G (n.1042C>G) c.1603C>G c.16458C>G (p.Ala5486=) c.450C>G (p.Ala150=) c.16446C>G (p.Ala5482=) c.16449C>G (p.Ala5483=) c.492C>G (p.Ala164=) c.16506C>G (p.Ala5502=) c.16503C>G (p.Ala5501=) c.16494C>G (p.Ala5498=) c.16485C>G (p.Ala5495=) c.16440C>G (p.Ala5480=) c.16413C>G (p.Ala5471=) n.16626C>G | dbSNP |
| 12 | g.49022115G= | CA2034963006 | KMT2D | c.419C= n.1121C= n.2083C= n.855C= c.16497C= (p.Ala5499=) c.420C= (p.Ala140=) c.1042C= (n.1042C=) c.1603C= c.16458C= (p.Ala5486=) c.450C= (p.Ala150=) c.16446C= (p.Ala5482=) c.16449C= (p.Ala5483=) c.492C= (p.Ala164=) c.16506C= (p.Ala5502=) c.16503C= (p.Ala5501=) c.16494C= (p.Ala5498=) c.16485C= (p.Ala5495=) c.16440C= (p.Ala5480=) c.16413C= (p.Ala5471=) n.16626C= | |
| 12 | g.49022115G>T | CA479520905 | KMT2D | c.419C>A n.1121C>A n.2083C>A n.855C>A c.16497C>A (p.Ala5499=) c.420C>A (p.Ala140=) c.1042C>A (n.1042C>A) c.1603C>A c.16458C>A (p.Ala5486=) c.450C>A (p.Ala150=) c.16446C>A (p.Ala5482=) c.16449C>A (p.Ala5483=) c.492C>A (p.Ala164=) c.16506C>A (p.Ala5502=) c.16503C>A (p.Ala5501=) c.16494C>A (p.Ala5498=) c.16485C>A (p.Ala5495=) c.16440C>A (p.Ala5480=) c.16413C>A (p.Ala5471=) n.16626C>A | dbSNP |
| 12 | g.49022116G>A | CA384676186 | KMT2D | c.418C>T n.1120C>T n.2082C>T n.854C>T c.16496C>T (p.Ala5499Val) c.419C>T (p.Ala140Val) c.1041C>T (n.1041C>T) c.1602C>T c.16457C>T (p.Ala5486Val) c.449C>T (p.Ala150Val) c.16445C>T (p.Ala5482Val) c.16448C>T (p.Ala5483Val) c.491C>T (p.Ala164Val) c.16505C>T (p.Ala5502Val) c.16502C>T (p.Ala5501Val) c.16493C>T (p.Ala5498Val) c.16484C>T (p.Ala5495Val) c.16439C>T (p.Ala5480Val) c.16412C>T (p.Ala5471Val) n.16625C>T | dbSNP |
| 12 | g.49022116G>C | CA384676191 | KMT2D | c.418C>G n.1120C>G n.2082C>G n.854C>G c.16496C>G (p.Ala5499Gly) c.419C>G (p.Ala140Gly) c.1041C>G (n.1041C>G) c.1602C>G c.16457C>G (p.Ala5486Gly) c.449C>G (p.Ala150Gly) c.16445C>G (p.Ala5482Gly) c.16448C>G (p.Ala5483Gly) c.491C>G (p.Ala164Gly) c.16505C>G (p.Ala5502Gly) c.16502C>G (p.Ala5501Gly) c.16493C>G (p.Ala5498Gly) c.16484C>G (p.Ala5495Gly) c.16439C>G (p.Ala5480Gly) c.16412C>G (p.Ala5471Gly) n.16625C>G | |
| 12 | g.49022116G>T | CA384676194 | KMT2D | c.418C>A n.1120C>A n.2082C>A n.854C>A c.16496C>A (p.Ala5499Asp) c.419C>A (p.Ala140Asp) c.1041C>A (n.1041C>A) c.1602C>A c.16457C>A (p.Ala5486Asp) c.449C>A (p.Ala150Asp) c.16445C>A (p.Ala5482Asp) c.16448C>A (p.Ala5483Asp) c.491C>A (p.Ala164Asp) c.16505C>A (p.Ala5502Asp) c.16502C>A (p.Ala5501Asp) c.16493C>A (p.Ala5498Asp) c.16484C>A (p.Ala5495Asp) c.16439C>A (p.Ala5480Asp) c.16412C>A (p.Ala5471Asp) n.16625C>A | dbSNP |
| 12 | g.49022117C>A | CA384676202 | KMT2D | c.417G>T n.1119G>T n.2081G>T n.853G>T c.16495G>T (p.Ala5499Ser) c.418G>T (p.Ala140Ser) c.1040G>T (n.1040G>T) c.1601G>T c.16456G>T (p.Ala5486Ser) c.448G>T (p.Ala150Ser) c.16444G>T (p.Ala5482Ser) c.16447G>T (p.Ala5483Ser) c.490G>T (p.Ala164Ser) c.16504G>T (p.Ala5502Ser) c.16501G>T (p.Ala5501Ser) c.16492G>T (p.Ala5498Ser) c.16483G>T (p.Ala5495Ser) c.16438G>T (p.Ala5480Ser) c.16411G>T (p.Ala5471Ser) n.16624G>T | dbSNP |
| 12 | g.49022117C>G | CA384676206 | KMT2D | c.417G>C n.1119G>C n.2081G>C n.853G>C c.16495G>C (p.Ala5499Pro) c.418G>C (p.Ala140Pro) c.1040G>C (n.1040G>C) c.1601G>C c.16456G>C (p.Ala5486Pro) c.448G>C (p.Ala150Pro) c.16444G>C (p.Ala5482Pro) c.16447G>C (p.Ala5483Pro) c.490G>C (p.Ala164Pro) c.16504G>C (p.Ala5502Pro) c.16501G>C (p.Ala5501Pro) c.16492G>C (p.Ala5498Pro) c.16483G>C (p.Ala5495Pro) c.16438G>C (p.Ala5480Pro) c.16411G>C (p.Ala5471Pro) n.16624G>C | dbSNP |
| 12 | g.49022117C>T | CA384676200 | KMT2D | c.417G>A n.1119G>A n.2081G>A n.853G>A c.16495G>A (p.Ala5499Thr) c.418G>A (p.Ala140Thr) c.1040G>A (n.1040G>A) c.1601G>A c.16456G>A (p.Ala5486Thr) c.448G>A (p.Ala150Thr) c.16444G>A (p.Ala5482Thr) c.16447G>A (p.Ala5483Thr) c.490G>A (p.Ala164Thr) c.16504G>A (p.Ala5502Thr) c.16501G>A (p.Ala5501Thr) c.16492G>A (p.Ala5498Thr) c.16483G>A (p.Ala5495Thr) c.16438G>A (p.Ala5480Thr) c.16411G>A (p.Ala5471Thr) n.16624G>A | dbSNP COSMIC COSMIC |
| 12 | g.49022117_49022119delinsCCA | CA2034963008 | KMT2D | c.415_417delinsTGG n.1117_1119delinsTGG n.2079_2081delinsTGG n.851_853delinsTGG c.16493_16495delinsTGG (p.Val5498=) c.416_418delinsTGG (p.Val139=) c.1038_1040delinsTGG (n.1038_1040delinsTGG) c.1599_1601delinsTGG c.16454_16456delinsTGG (p.Val5485=) c.446_448delinsTGG (p.Val149=) c.16442_16444delinsTGG (p.Val5481=) c.16445_16447delinsTGG (p.Val5482=) c.488_490delinsTGG (p.Val163=) c.16502_16504delinsTGG (p.Val5501=) c.16499_16501delinsTGG (p.Val5500=) c.16490_16492delinsTGG (p.Val5497=) c.16481_16483delinsTGG (p.Val5494=) c.16436_16438delinsTGG (p.Val5479=) c.16409_16411delinsTGG (p.Val5470=) n.16622_16624delinsTGG | |
| 12 | g.49022118C>A | CA479520906 | KMT2D | c.416G>T n.1118G>T n.2080G>T n.852G>T c.16494G>T (p.Val5498=) c.417G>T (p.Val139=) c.1039G>T (n.1039G>T) c.1600G>T c.16455G>T (p.Val5485=) c.447G>T (p.Val149=) c.16443G>T (p.Val5481=) c.16446G>T (p.Val5482=) c.489G>T (p.Val163=) c.16503G>T (p.Val5501=) c.16500G>T (p.Val5500=) c.16491G>T (p.Val5497=) c.16482G>T (p.Val5494=) c.16437G>T (p.Val5479=) c.16410G>T (p.Val5470=) n.16623G>T | dbSNP |
| 12 | g.49022118C>G | CA479520908 | KMT2D | c.416G>C n.1118G>C n.2080G>C n.852G>C c.16494G>C (p.Val5498=) c.417G>C (p.Val139=) c.1039G>C (n.1039G>C) c.1600G>C c.16455G>C (p.Val5485=) c.447G>C (p.Val149=) c.16443G>C (p.Val5481=) c.16446G>C (p.Val5482=) c.489G>C (p.Val163=) c.16503G>C (p.Val5501=) c.16500G>C (p.Val5500=) c.16491G>C (p.Val5497=) c.16482G>C (p.Val5494=) c.16437G>C (p.Val5479=) c.16410G>C (p.Val5470=) n.16623G>C | dbSNP |
| 12 | g.49022118C>T | CA479520907 | KMT2D | c.416G>A n.1118G>A n.2080G>A n.852G>A c.16494G>A (p.Val5498=) c.417G>A (p.Val139=) c.1039G>A (n.1039G>A) c.1600G>A c.16455G>A (p.Val5485=) c.447G>A (p.Val149=) c.16443G>A (p.Val5481=) c.16446G>A (p.Val5482=) c.489G>A (p.Val163=) c.16503G>A (p.Val5501=) c.16500G>A (p.Val5500=) c.16491G>A (p.Val5497=) c.16482G>A (p.Val5494=) c.16437G>A (p.Val5479=) c.16410G>A (p.Val5470=) n.16623G>A | dbSNP |
| 12 | g.49022122_49022123del | CA645594424 | KMT2D | c.415_416del n.1117_1118del n.2079_2080del n.851_852del c.16493_16494del (p.Val5498GlyfsTer7) c.416_417del (p.Val139GlyfsTer7) c.1038_1039del (n.1038_1039del) c.1599_1600del c.16454_16455del (p.Val5485GlyfsTer7) c.446_447del (p.Val149GlyfsTer7) c.16442_16443del (p.Val5481GlyfsTer7) c.16445_16446del (p.Val5482GlyfsTer7) c.488_489del (p.Val163GlyfsTer7) c.16502_16503del (p.Val5501GlyfsTer7) c.16499_16500del (p.Val5500GlyfsTer7) c.16490_16491del (p.Val5497GlyfsTer7) c.16481_16482del (p.Val5494GlyfsTer7) c.16436_16437del (p.Val5479GlyfsTer7) c.16409_16410del (p.Val5470GlyfsTer7) n.16622_16623del | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.49022119A>C | CA384676211 | KMT2D | c.415T>G n.1117T>G n.2079T>G n.851T>G c.16493T>G (p.Val5498Gly) c.416T>G (p.Val139Gly) c.1038T>G (n.1038T>G) c.1599T>G c.16454T>G (p.Val5485Gly) c.446T>G (p.Val149Gly) c.16442T>G (p.Val5481Gly) c.16445T>G (p.Val5482Gly) c.488T>G (p.Val163Gly) c.16502T>G (p.Val5501Gly) c.16499T>G (p.Val5500Gly) c.16490T>G (p.Val5497Gly) c.16481T>G (p.Val5494Gly) c.16436T>G (p.Val5479Gly) c.16409T>G (p.Val5470Gly) n.16622T>G | |
| 12 | g.49022119A>G | CA384676214 | KMT2D | c.415T>C n.1117T>C n.2079T>C n.851T>C c.16493T>C (p.Val5498Ala) c.416T>C (p.Val139Ala) c.1038T>C (n.1038T>C) c.1599T>C c.16454T>C (p.Val5485Ala) c.446T>C (p.Val149Ala) c.16442T>C (p.Val5481Ala) c.16445T>C (p.Val5482Ala) c.488T>C (p.Val163Ala) c.16502T>C (p.Val5501Ala) c.16499T>C (p.Val5500Ala) c.16490T>C (p.Val5497Ala) c.16481T>C (p.Val5494Ala) c.16436T>C (p.Val5479Ala) c.16409T>C (p.Val5470Ala) n.16622T>C | |
| 12 | g.49022119A>T | CA384676216 | KMT2D | c.415T>A n.1117T>A n.2079T>A n.851T>A c.16493T>A (p.Val5498Glu) c.416T>A (p.Val139Glu) c.1038T>A (n.1038T>A) c.1599T>A c.16454T>A (p.Val5485Glu) c.446T>A (p.Val149Glu) c.16442T>A (p.Val5481Glu) c.16445T>A (p.Val5482Glu) c.488T>A (p.Val163Glu) c.16502T>A (p.Val5501Glu) c.16499T>A (p.Val5500Glu) c.16490T>A (p.Val5497Glu) c.16481T>A (p.Val5494Glu) c.16436T>A (p.Val5479Glu) c.16409T>A (p.Val5470Glu) n.16622T>A | ClinVar dbSNP |
| 12 | g.49022120C>A | CA384676220 | KMT2D | c.414G>T n.1116G>T n.2078G>T n.850G>T c.16492G>T (p.Val5498Leu) c.415G>T (p.Val139Leu) c.1037G>T (n.1037G>T) c.1598G>T c.16453G>T (p.Val5485Leu) c.445G>T (p.Val149Leu) c.16441G>T (p.Val5481Leu) c.16444G>T (p.Val5482Leu) c.487G>T (p.Val163Leu) c.16501G>T (p.Val5501Leu) c.16498G>T (p.Val5500Leu) c.16489G>T (p.Val5497Leu) c.16480G>T (p.Val5494Leu) c.16435G>T (p.Val5479Leu) c.16408G>T (p.Val5470Leu) n.16621G>T | |
| 12 | g.49022120C= | CA2034963012 | KMT2D | c.414G= n.1116G= n.2078G= n.850G= c.16492G= (p.Val5498=) c.415G= (p.Val139=) c.1037G= (n.1037G=) c.1598G= c.16453G= (p.Val5485=) c.445G= (p.Val149=) c.16441G= (p.Val5481=) c.16444G= (p.Val5482=) c.487G= (p.Val163=) c.16501G= (p.Val5501=) c.16498G= (p.Val5500=) c.16489G= (p.Val5497=) c.16480G= (p.Val5494=) c.16435G= (p.Val5479=) c.16408G= (p.Val5470=) n.16621G= | |
| 12 | g.49022120C>G | CA384676224 | KMT2D | c.414G>C n.1116G>C n.2078G>C n.850G>C c.16492G>C (p.Val5498Leu) c.415G>C (p.Val139Leu) c.1037G>C (n.1037G>C) c.1598G>C c.16453G>C (p.Val5485Leu) c.445G>C (p.Val149Leu) c.16441G>C (p.Val5481Leu) c.16444G>C (p.Val5482Leu) c.487G>C (p.Val163Leu) c.16501G>C (p.Val5501Leu) c.16498G>C (p.Val5500Leu) c.16489G>C (p.Val5497Leu) c.16480G>C (p.Val5494Leu) c.16435G>C (p.Val5479Leu) c.16408G>C (p.Val5470Leu) n.16621G>C | dbSNP |
| 12 | g.49022120C>T | CA384676227 | KMT2D | c.414G>A n.1116G>A n.2078G>A n.850G>A c.16492G>A (p.Val5498Met) c.415G>A (p.Val139Met) c.1037G>A (n.1037G>A) c.1598G>A c.16453G>A (p.Val5485Met) c.445G>A (p.Val149Met) c.16441G>A (p.Val5481Met) c.16444G>A (p.Val5482Met) c.487G>A (p.Val163Met) c.16501G>A (p.Val5501Met) c.16498G>A (p.Val5500Met) c.16489G>A (p.Val5497Met) c.16480G>A (p.Val5494Met) c.16435G>A (p.Val5479Met) c.16408G>A (p.Val5470Met) n.16621G>A | dbSNP |
| 12 | g.49022121A= | CA2034963014 | KMT2D | c.413T= n.1115T= n.2077T= n.849T= c.16491T= (p.Cys5497=) c.414T= (p.Cys138=) c.1036T= (n.1036T=) c.1597T= c.16452T= (p.Cys5484=) c.444T= (p.Cys148=) c.16440T= (p.Cys5480=) c.16443T= (p.Cys5481=) c.486T= (p.Cys162=) c.16500T= (p.Cys5500=) c.16497T= (p.Cys5499=) c.16488T= (p.Cys5496=) c.16479T= (p.Cys5493=) c.16434T= (p.Cys5478=) c.16407T= (p.Cys5469=) n.16620T= | |
| 12 | g.49022121A>C | CA384676231 | KMT2D | c.413T>G n.1115T>G n.2077T>G n.849T>G c.16491T>G (p.Cys5497Trp) c.414T>G (p.Cys138Trp) c.1036T>G (n.1036T>G) c.1597T>G c.16452T>G (p.Cys5484Trp) c.444T>G (p.Cys148Trp) c.16440T>G (p.Cys5480Trp) c.16443T>G (p.Cys5481Trp) c.486T>G (p.Cys162Trp) c.16500T>G (p.Cys5500Trp) c.16497T>G (p.Cys5499Trp) c.16488T>G (p.Cys5496Trp) c.16479T>G (p.Cys5493Trp) c.16434T>G (p.Cys5478Trp) c.16407T>G (p.Cys5469Trp) n.16620T>G | |
| 12 | g.49022121A>G | CA479520910 | KMT2D | c.413T>C n.1115T>C n.2077T>C n.849T>C c.16491T>C (p.Cys5497=) c.414T>C (p.Cys138=) c.1036T>C (n.1036T>C) c.1597T>C c.16452T>C (p.Cys5484=) c.444T>C (p.Cys148=) c.16440T>C (p.Cys5480=) c.16443T>C (p.Cys5481=) c.486T>C (p.Cys162=) c.16500T>C (p.Cys5500=) c.16497T>C (p.Cys5499=) c.16488T>C (p.Cys5496=) c.16479T>C (p.Cys5493=) c.16434T>C (p.Cys5478=) c.16407T>C (p.Cys5469=) n.16620T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49022121A>T | CA384676235 | KMT2D | c.413T>A n.1115T>A n.2077T>A n.849T>A c.16491T>A (p.Cys5497Ter) c.414T>A (p.Cys138Ter) c.1036T>A (n.1036T>A) c.1597T>A c.16452T>A (p.Cys5484Ter) c.444T>A (p.Cys148Ter) c.16440T>A (p.Cys5480Ter) c.16443T>A (p.Cys5481Ter) c.486T>A (p.Cys162Ter) c.16500T>A (p.Cys5500Ter) c.16497T>A (p.Cys5499Ter) c.16488T>A (p.Cys5496Ter) c.16479T>A (p.Cys5493Ter) c.16434T>A (p.Cys5478Ter) c.16407T>A (p.Cys5469Ter) n.16620T>A | dbSNP |
| 12 | g.49022122del | CA2695216336 | KMT2D | c.412del n.1114del n.2076del n.848del c.16490del (p.Cys5497LeufsTer6) c.413del (p.Cys138LeufsTer6) c.1035del (n.1035del) c.1596del c.16451del (p.Cys5484LeufsTer6) c.443del (p.Cys148LeufsTer6) c.16439del (p.Cys5480LeufsTer6) c.16442del (p.Cys5481LeufsTer6) c.485del (p.Cys162LeufsTer6) c.16499del (p.Cys5500LeufsTer6) c.16496del (p.Cys5499LeufsTer6) c.16487del (p.Cys5496LeufsTer6) c.16478del (p.Cys5493LeufsTer6) c.16433del (p.Cys5478LeufsTer6) c.16406del (p.Cys5469LeufsTer6) n.16619del | |
| 12 | g.49022122C>A | CA384676238 | KMT2D | c.412G>T n.1114G>T n.2076G>T n.848G>T c.16490G>T (p.Cys5497Phe) c.413G>T (p.Cys138Phe) c.1035G>T (n.1035G>T) c.1596G>T c.16451G>T (p.Cys5484Phe) c.443G>T (p.Cys148Phe) c.16439G>T (p.Cys5480Phe) c.16442G>T (p.Cys5481Phe) c.485G>T (p.Cys162Phe) c.16499G>T (p.Cys5500Phe) c.16496G>T (p.Cys5499Phe) c.16487G>T (p.Cys5496Phe) c.16478G>T (p.Cys5493Phe) c.16433G>T (p.Cys5478Phe) c.16406G>T (p.Cys5469Phe) n.16619G>T | |
| 12 | g.49022122C= | CA2034963017 | KMT2D | c.412G= n.1114G= n.2076G= n.848G= c.16490G= (p.Cys5497=) c.413G= (p.Cys138=) c.1035G= (n.1035G=) c.1596G= c.16451G= (p.Cys5484=) c.443G= (p.Cys148=) c.16439G= (p.Cys5480=) c.16442G= (p.Cys5481=) c.485G= (p.Cys162=) c.16499G= (p.Cys5500=) c.16496G= (p.Cys5499=) c.16487G= (p.Cys5496=) c.16478G= (p.Cys5493=) c.16433G= (p.Cys5478=) c.16406G= (p.Cys5469=) n.16619G= | |
| 12 | g.49022122C>G | CA384676240 | KMT2D | c.412G>C n.1114G>C n.2076G>C n.848G>C c.16490G>C (p.Cys5497Ser) c.413G>C (p.Cys138Ser) c.1035G>C (n.1035G>C) c.1596G>C c.16451G>C (p.Cys5484Ser) c.443G>C (p.Cys148Ser) c.16439G>C (p.Cys5480Ser) c.16442G>C (p.Cys5481Ser) c.485G>C (p.Cys162Ser) c.16499G>C (p.Cys5500Ser) c.16496G>C (p.Cys5499Ser) c.16487G>C (p.Cys5496Ser) c.16478G>C (p.Cys5493Ser) c.16433G>C (p.Cys5478Ser) c.16406G>C (p.Cys5469Ser) n.16619G>C | dbSNP |
| 12 | g.49022122C>T | CA384676242 | KMT2D | c.412G>A n.1114G>A n.2076G>A n.848G>A c.16490G>A (p.Cys5497Tyr) c.413G>A (p.Cys138Tyr) c.1035G>A (n.1035G>A) c.1596G>A c.16451G>A (p.Cys5484Tyr) c.443G>A (p.Cys148Tyr) c.16439G>A (p.Cys5480Tyr) c.16442G>A (p.Cys5481Tyr) c.485G>A (p.Cys162Tyr) c.16499G>A (p.Cys5500Tyr) c.16496G>A (p.Cys5499Tyr) c.16487G>A (p.Cys5496Tyr) c.16478G>A (p.Cys5493Tyr) c.16433G>A (p.Cys5478Tyr) c.16406G>A (p.Cys5469Tyr) n.16619G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022122_49022126delinsCAGTT | CA2034963016 | KMT2D | c.408_412delinsAACTG n.1110_1114delinsAACTG n.2072_2076delinsAACTG n.844_848delinsAACTG c.16486_16490delinsAACTG (p.Asn5496=) c.409_413delinsAACTG (p.Asn137=) c.1031_1035delinsAACTG (n.1031_1035delinsAACTG) c.1592_1596delinsAACTG c.16447_16451delinsAACTG (p.Asn5483=) c.439_443delinsAACTG (p.Asn147=) c.16435_16439delinsAACTG (p.Asn5479=) c.16438_16442delinsAACTG (p.Asn5480=) c.481_485delinsAACTG (p.Asn161=) c.16495_16499delinsAACTG (p.Asn5499=) c.16492_16496delinsAACTG (p.Asn5498=) c.16483_16487delinsAACTG (p.Asn5495=) c.16474_16478delinsAACTG (p.Asn5492=) c.16429_16433delinsAACTG (p.Asn5477=) c.16402_16406delinsAACTG (p.Asn5468=) n.16615_16619delinsAACTG | |
| 12 | g.49022123A>C | CA384676263 | KMT2D | c.411T>G n.1113T>G n.2075T>G n.847T>G c.16489T>G (p.Cys5497Gly) c.412T>G (p.Cys138Gly) c.1034T>G (n.1034T>G) c.1595T>G c.16450T>G (p.Cys5484Gly) c.442T>G (p.Cys148Gly) c.16438T>G (p.Cys5480Gly) c.16441T>G (p.Cys5481Gly) c.484T>G (p.Cys162Gly) c.16498T>G (p.Cys5500Gly) c.16495T>G (p.Cys5499Gly) c.16486T>G (p.Cys5496Gly) c.16477T>G (p.Cys5493Gly) c.16432T>G (p.Cys5478Gly) c.16405T>G (p.Cys5469Gly) n.16618T>G | |
| 12 | g.49022123A>G | CA384676271 | KMT2D | c.411T>C n.1113T>C n.2075T>C n.847T>C c.16489T>C (p.Cys5497Arg) c.412T>C (p.Cys138Arg) c.1034T>C (n.1034T>C) c.1595T>C c.16450T>C (p.Cys5484Arg) c.442T>C (p.Cys148Arg) c.16438T>C (p.Cys5480Arg) c.16441T>C (p.Cys5481Arg) c.484T>C (p.Cys162Arg) c.16498T>C (p.Cys5500Arg) c.16495T>C (p.Cys5499Arg) c.16486T>C (p.Cys5496Arg) c.16477T>C (p.Cys5493Arg) c.16432T>C (p.Cys5478Arg) c.16405T>C (p.Cys5469Arg) n.16618T>C | dbSNP |
| 12 | g.49022123A>T | CA384676257 | KMT2D | c.411T>A n.1113T>A n.2075T>A n.847T>A c.16489T>A (p.Cys5497Ser) c.412T>A (p.Cys138Ser) c.1034T>A (n.1034T>A) c.1595T>A c.16450T>A (p.Cys5484Ser) c.442T>A (p.Cys148Ser) c.16438T>A (p.Cys5480Ser) c.16441T>A (p.Cys5481Ser) c.484T>A (p.Cys162Ser) c.16498T>A (p.Cys5500Ser) c.16495T>A (p.Cys5499Ser) c.16486T>A (p.Cys5496Ser) c.16477T>A (p.Cys5493Ser) c.16432T>A (p.Cys5478Ser) c.16405T>A (p.Cys5469Ser) n.16618T>A | dbSNP |
| 12 | g.49022125_49022128del | CA271615 | KMT2D | c.408_411del n.1110_1113del n.2072_2075del n.844_847del c.16486_16489del (p.Asn5496ValfsTer6) c.409_412del (p.Asn137ValfsTer6) c.1031_1034del (n.1031_1034del) c.1592_1595del c.16447_16450del (p.Asn5483ValfsTer6) c.439_442del (p.Asn147ValfsTer6) c.16435_16438del (p.Asn5479ValfsTer6) c.16438_16441del (p.Asn5480ValfsTer6) c.481_484del (p.Asn161ValfsTer6) c.16495_16498del (p.Asn5499ValfsTer6) c.16492_16495del (p.Asn5498ValfsTer6) c.16483_16486del (p.Asn5495ValfsTer6) c.16474_16477del (p.Asn5492ValfsTer6) c.16429_16432del (p.Asn5477ValfsTer6) c.16402_16405del (p.Asn5468ValfsTer6) n.16615_16618del | ClinVar dbSNP |
| 12 | g.49022124G>A | CA479520912 | KMT2D | c.410C>T n.1112C>T n.2074C>T n.846C>T c.16488C>T (p.Asn5496=) c.411C>T (p.Asn137=) c.1033C>T (n.1033C>T) c.1594C>T c.16449C>T (p.Asn5483=) c.441C>T (p.Asn147=) c.16437C>T (p.Asn5479=) c.16440C>T (p.Asn5480=) c.483C>T (p.Asn161=) c.16497C>T (p.Asn5499=) c.16494C>T (p.Asn5498=) c.16485C>T (p.Asn5495=) c.16476C>T (p.Asn5492=) c.16431C>T (p.Asn5477=) c.16404C>T (p.Asn5468=) n.16617C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49022124G>C | CA384676274 | KMT2D | c.410C>G n.1112C>G n.2074C>G n.846C>G c.16488C>G (p.Asn5496Lys) c.411C>G (p.Asn137Lys) c.1033C>G (n.1033C>G) c.1594C>G c.16449C>G (p.Asn5483Lys) c.441C>G (p.Asn147Lys) c.16437C>G (p.Asn5479Lys) c.16440C>G (p.Asn5480Lys) c.483C>G (p.Asn161Lys) c.16497C>G (p.Asn5499Lys) c.16494C>G (p.Asn5498Lys) c.16485C>G (p.Asn5495Lys) c.16476C>G (p.Asn5492Lys) c.16431C>G (p.Asn5477Lys) c.16404C>G (p.Asn5468Lys) n.16617C>G | dbSNP |
| 12 | g.49022124G= | CA2034963019 | KMT2D | c.410C= n.1112C= n.2074C= n.846C= c.16488C= (p.Asn5496=) c.411C= (p.Asn137=) c.1033C= (n.1033C=) c.1594C= c.16449C= (p.Asn5483=) c.441C= (p.Asn147=) c.16437C= (p.Asn5479=) c.16440C= (p.Asn5480=) c.483C= (p.Asn161=) c.16497C= (p.Asn5499=) c.16494C= (p.Asn5498=) c.16485C= (p.Asn5495=) c.16476C= (p.Asn5492=) c.16431C= (p.Asn5477=) c.16404C= (p.Asn5468=) n.16617C= | |
| 12 | g.49022124G>T | CA384676278 | KMT2D | c.410C>A n.1112C>A n.2074C>A n.846C>A c.16488C>A (p.Asn5496Lys) c.411C>A (p.Asn137Lys) c.1033C>A (n.1033C>A) c.1594C>A c.16449C>A (p.Asn5483Lys) c.441C>A (p.Asn147Lys) c.16437C>A (p.Asn5479Lys) c.16440C>A (p.Asn5480Lys) c.483C>A (p.Asn161Lys) c.16497C>A (p.Asn5499Lys) c.16494C>A (p.Asn5498Lys) c.16485C>A (p.Asn5495Lys) c.16476C>A (p.Asn5492Lys) c.16431C>A (p.Asn5477Lys) c.16404C>A (p.Asn5468Lys) n.16617C>A | |
| 12 | g.49022125T>A | CA384676281 | KMT2D | c.409A>T n.1111A>T n.2073A>T n.845A>T c.16487A>T (p.Asn5496Ile) c.410A>T (p.Asn137Ile) c.1032A>T (n.1032A>T) c.1593A>T c.16448A>T (p.Asn5483Ile) c.440A>T (p.Asn147Ile) c.16436A>T (p.Asn5479Ile) c.16439A>T (p.Asn5480Ile) c.482A>T (p.Asn161Ile) c.16496A>T (p.Asn5499Ile) c.16493A>T (p.Asn5498Ile) c.16484A>T (p.Asn5495Ile) c.16475A>T (p.Asn5492Ile) c.16430A>T (p.Asn5477Ile) c.16403A>T (p.Asn5468Ile) n.16616A>T | dbSNP |
| 12 | g.49022125T>C | CA384676295 | KMT2D | c.409A>G n.1111A>G n.2073A>G n.845A>G c.16487A>G (p.Asn5496Ser) c.410A>G (p.Asn137Ser) c.1032A>G (n.1032A>G) c.1593A>G c.16448A>G (p.Asn5483Ser) c.440A>G (p.Asn147Ser) c.16436A>G (p.Asn5479Ser) c.16439A>G (p.Asn5480Ser) c.482A>G (p.Asn161Ser) c.16496A>G (p.Asn5499Ser) c.16493A>G (p.Asn5498Ser) c.16484A>G (p.Asn5495Ser) c.16475A>G (p.Asn5492Ser) c.16430A>G (p.Asn5477Ser) c.16403A>G (p.Asn5468Ser) n.16616A>G | dbSNP |
| 12 | g.49022125T>G | CA384676313 | KMT2D | c.409A>C n.1111A>C n.2073A>C n.845A>C c.16487A>C (p.Asn5496Thr) c.410A>C (p.Asn137Thr) c.1032A>C (n.1032A>C) c.1593A>C c.16448A>C (p.Asn5483Thr) c.440A>C (p.Asn147Thr) c.16436A>C (p.Asn5479Thr) c.16439A>C (p.Asn5480Thr) c.482A>C (p.Asn161Thr) c.16496A>C (p.Asn5499Thr) c.16493A>C (p.Asn5498Thr) c.16484A>C (p.Asn5495Thr) c.16475A>C (p.Asn5492Thr) c.16430A>C (p.Asn5477Thr) c.16403A>C (p.Asn5468Thr) n.16616A>C | dbSNP |
| 12 | g.49022126T>A | CA384676318 | KMT2D | c.408A>T n.1110A>T n.2072A>T n.844A>T c.16486A>T (p.Asn5496Tyr) c.409A>T (p.Asn137Tyr) c.1031A>T (n.1031A>T) c.1592A>T c.16447A>T (p.Asn5483Tyr) c.439A>T (p.Asn147Tyr) c.16435A>T (p.Asn5479Tyr) c.16438A>T (p.Asn5480Tyr) c.481A>T (p.Asn161Tyr) c.16495A>T (p.Asn5499Tyr) c.16492A>T (p.Asn5498Tyr) c.16483A>T (p.Asn5495Tyr) c.16474A>T (p.Asn5492Tyr) c.16429A>T (p.Asn5477Tyr) c.16402A>T (p.Asn5468Tyr) n.16615A>T | dbSNP |
| 12 | g.49022126T>C | CA384676316 | KMT2D | c.408A>G n.1110A>G n.2072A>G n.844A>G c.16486A>G (p.Asn5496Asp) c.409A>G (p.Asn137Asp) c.1031A>G (n.1031A>G) c.1592A>G c.16447A>G (p.Asn5483Asp) c.439A>G (p.Asn147Asp) c.16435A>G (p.Asn5479Asp) c.16438A>G (p.Asn5480Asp) c.481A>G (p.Asn161Asp) c.16495A>G (p.Asn5499Asp) c.16492A>G (p.Asn5498Asp) c.16483A>G (p.Asn5495Asp) c.16474A>G (p.Asn5492Asp) c.16429A>G (p.Asn5477Asp) c.16402A>G (p.Asn5468Asp) n.16615A>G | |
| 12 | g.49022126T>G | CA384676317 | KMT2D | c.408A>C n.1110A>C n.2072A>C n.844A>C c.16486A>C (p.Asn5496His) c.409A>C (p.Asn137His) c.1031A>C (n.1031A>C) c.1592A>C c.16447A>C (p.Asn5483His) c.439A>C (p.Asn147His) c.16435A>C (p.Asn5479His) c.16438A>C (p.Asn5480His) c.481A>C (p.Asn161His) c.16495A>C (p.Asn5499His) c.16492A>C (p.Asn5498His) c.16483A>C (p.Asn5495His) c.16474A>C (p.Asn5492His) c.16429A>C (p.Asn5477His) c.16402A>C (p.Asn5468His) n.16615A>C | dbSNP |
| 12 | g.49022126_49022127delinsTA | CA2034963021 | KMT2D | c.407_408delinsTA n.1109_1110delinsTA n.2071_2072delinsTA n.843_844delinsTA c.16485_16486delinsTA (p.Pro5495=) c.408_409delinsTA (p.Pro136=) c.1030_1031delinsTA (n.1030_1031delinsTA) c.1591_1592delinsTA c.16446_16447delinsTA (p.Pro5482=) c.438_439delinsTA (p.Pro146=) c.16434_16435delinsTA (p.Pro5478=) c.16437_16438delinsTA (p.Pro5479=) c.480_481delinsTA (p.Pro160=) c.16494_16495delinsTA (p.Pro5498=) c.16491_16492delinsTA (p.Pro5497=) c.16482_16483delinsTA (p.Pro5494=) c.16473_16474delinsTA (p.Pro5491=) c.16428_16429delinsTA (p.Pro5476=) c.16401_16402delinsTA (p.Pro5467=) n.16614_16615delinsTA | |
| 12 | g.49022127del | CA658823371 | KMT2D | c.407del n.1109del n.2071del n.843del c.16485del (p.Asn5496ThrfsTer7) c.408del (p.Asn137ThrfsTer7) c.1030del (n.1030del) c.1591del c.16446del (p.Asn5483ThrfsTer7) c.438del (p.Asn147ThrfsTer7) c.16434del (p.Asn5479ThrfsTer7) c.16437del (p.Asn5480ThrfsTer7) c.480del (p.Asn161ThrfsTer7) c.16494del (p.Asn5499ThrfsTer7) c.16491del (p.Asn5498ThrfsTer7) c.16482del (p.Asn5495ThrfsTer7) c.16473del (p.Asn5492ThrfsTer7) c.16428del (p.Asn5477ThrfsTer7) c.16401del (p.Asn5468ThrfsTer7) n.16614del | ClinVar dbSNP |
| 12 | g.49022127A>C | CA479520913 | KMT2D | c.407T>G n.1109T>G n.2071T>G n.843T>G c.16485T>G (p.Pro5495=) c.408T>G (p.Pro136=) c.1030T>G (n.1030T>G) c.1591T>G c.16446T>G (p.Pro5482=) c.438T>G (p.Pro146=) c.16434T>G (p.Pro5478=) c.16437T>G (p.Pro5479=) c.480T>G (p.Pro160=) c.16494T>G (p.Pro5498=) c.16491T>G (p.Pro5497=) c.16482T>G (p.Pro5494=) c.16473T>G (p.Pro5491=) c.16428T>G (p.Pro5476=) c.16401T>G (p.Pro5467=) n.16614T>G | |
| 12 | g.49022127A>G | CA479520915 | KMT2D | c.407T>C n.1109T>C n.2071T>C n.843T>C c.16485T>C (p.Pro5495=) c.408T>C (p.Pro136=) c.1030T>C (n.1030T>C) c.1591T>C c.16446T>C (p.Pro5482=) c.438T>C (p.Pro146=) c.16434T>C (p.Pro5478=) c.16437T>C (p.Pro5479=) c.480T>C (p.Pro160=) c.16494T>C (p.Pro5498=) c.16491T>C (p.Pro5497=) c.16482T>C (p.Pro5494=) c.16473T>C (p.Pro5491=) c.16428T>C (p.Pro5476=) c.16401T>C (p.Pro5467=) n.16614T>C | dbSNP |
| 12 | g.49022127A>T | CA479520916 | KMT2D | c.407T>A n.1109T>A n.2071T>A n.843T>A c.16485T>A (p.Pro5495=) c.408T>A (p.Pro136=) c.1030T>A (n.1030T>A) c.1591T>A c.16446T>A (p.Pro5482=) c.438T>A (p.Pro146=) c.16434T>A (p.Pro5478=) c.16437T>A (p.Pro5479=) c.480T>A (p.Pro160=) c.16494T>A (p.Pro5498=) c.16491T>A (p.Pro5497=) c.16482T>A (p.Pro5494=) c.16473T>A (p.Pro5491=) c.16428T>A (p.Pro5476=) c.16401T>A (p.Pro5467=) n.16614T>A | dbSNP |
| 12 | g.49022128G>A | CA384676319 | KMT2D | c.406C>T n.1108C>T n.2070C>T n.842C>T c.16484C>T (p.Pro5495Leu) c.407C>T (p.Pro136Leu) c.1029C>T (n.1029C>T) c.1590C>T c.16445C>T (p.Pro5482Leu) c.437C>T (p.Pro146Leu) c.16433C>T (p.Pro5478Leu) c.16436C>T (p.Pro5479Leu) c.479C>T (p.Pro160Leu) c.16493C>T (p.Pro5498Leu) c.16490C>T (p.Pro5497Leu) c.16481C>T (p.Pro5494Leu) c.16472C>T (p.Pro5491Leu) c.16427C>T (p.Pro5476Leu) c.16400C>T (p.Pro5467Leu) n.16613C>T | dbSNP |
| 12 | g.49022128G>C | CA384676321 | KMT2D | c.406C>G n.1108C>G n.2070C>G n.842C>G c.16484C>G (p.Pro5495Arg) c.407C>G (p.Pro136Arg) c.1029C>G (n.1029C>G) c.1590C>G c.16445C>G (p.Pro5482Arg) c.437C>G (p.Pro146Arg) c.16433C>G (p.Pro5478Arg) c.16436C>G (p.Pro5479Arg) c.479C>G (p.Pro160Arg) c.16493C>G (p.Pro5498Arg) c.16490C>G (p.Pro5497Arg) c.16481C>G (p.Pro5494Arg) c.16472C>G (p.Pro5491Arg) c.16427C>G (p.Pro5476Arg) c.16400C>G (p.Pro5467Arg) n.16613C>G | dbSNP |
| 12 | g.49022128G>T | CA384676323 | KMT2D | c.406C>A n.1108C>A n.2070C>A n.842C>A c.16484C>A (p.Pro5495His) c.407C>A (p.Pro136His) c.1029C>A (n.1029C>A) c.1590C>A c.16445C>A (p.Pro5482His) c.437C>A (p.Pro146His) c.16433C>A (p.Pro5478His) c.16436C>A (p.Pro5479His) c.479C>A (p.Pro160His) c.16493C>A (p.Pro5498His) c.16490C>A (p.Pro5497His) c.16481C>A (p.Pro5494His) c.16472C>A (p.Pro5491His) c.16427C>A (p.Pro5476His) c.16400C>A (p.Pro5467His) n.16613C>A | |
| 12 | g.49022129G>A | CA384676326 | KMT2D | c.405C>T n.1107C>T n.2069C>T n.841C>T c.16483C>T (p.Pro5495Ser) c.406C>T (p.Pro136Ser) c.1028C>T (n.1028C>T) c.1589C>T c.16444C>T (p.Pro5482Ser) c.436C>T (p.Pro146Ser) c.16432C>T (p.Pro5478Ser) c.16435C>T (p.Pro5479Ser) c.478C>T (p.Pro160Ser) c.16492C>T (p.Pro5498Ser) c.16489C>T (p.Pro5497Ser) c.16480C>T (p.Pro5494Ser) c.16471C>T (p.Pro5491Ser) c.16426C>T (p.Pro5476Ser) c.16399C>T (p.Pro5467Ser) n.16612C>T | dbSNP |
| 12 | g.49022129G>C | CA384676333 | KMT2D | c.405C>G n.1107C>G n.2069C>G n.841C>G c.16483C>G (p.Pro5495Ala) c.406C>G (p.Pro136Ala) c.1028C>G (n.1028C>G) c.1589C>G c.16444C>G (p.Pro5482Ala) c.436C>G (p.Pro146Ala) c.16432C>G (p.Pro5478Ala) c.16435C>G (p.Pro5479Ala) c.478C>G (p.Pro160Ala) c.16492C>G (p.Pro5498Ala) c.16489C>G (p.Pro5497Ala) c.16480C>G (p.Pro5494Ala) c.16471C>G (p.Pro5491Ala) c.16426C>G (p.Pro5476Ala) c.16399C>G (p.Pro5467Ala) n.16612C>G | dbSNP |
| 12 | g.49022129G>T | CA384676337 | KMT2D | c.405C>A n.1107C>A n.2069C>A n.841C>A c.16483C>A (p.Pro5495Thr) c.406C>A (p.Pro136Thr) c.1028C>A (n.1028C>A) c.1589C>A c.16444C>A (p.Pro5482Thr) c.436C>A (p.Pro146Thr) c.16432C>A (p.Pro5478Thr) c.16435C>A (p.Pro5479Thr) c.478C>A (p.Pro160Thr) c.16492C>A (p.Pro5498Thr) c.16489C>A (p.Pro5497Thr) c.16480C>A (p.Pro5494Thr) c.16471C>A (p.Pro5491Thr) c.16426C>A (p.Pro5476Thr) c.16399C>A (p.Pro5467Thr) n.16612C>A | dbSNP |
| 12 | g.49022130G>A | CA6545370 | KMT2D | c.404C>T n.1106C>T n.2068C>T n.840C>T c.16482C>T (p.Ala5494=) c.405C>T (p.Ala135=) c.1027C>T (n.1027C>T) c.1588C>T c.16443C>T (p.Ala5481=) c.435C>T (p.Ala145=) c.16431C>T (p.Ala5477=) c.16434C>T (p.Ala5478=) c.477C>T (p.Ala159=) c.16491C>T (p.Ala5497=) c.16488C>T (p.Ala5496=) c.16479C>T (p.Ala5493=) c.16470C>T (p.Ala5490=) c.16425C>T (p.Ala5475=) c.16398C>T (p.Ala5466=) n.16611C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49022130G>C | CA479520917 | KMT2D | c.404C>G n.1106C>G n.2068C>G n.840C>G c.16482C>G (p.Ala5494=) c.405C>G (p.Ala135=) c.1027C>G (n.1027C>G) c.1588C>G c.16443C>G (p.Ala5481=) c.435C>G (p.Ala145=) c.16431C>G (p.Ala5477=) c.16434C>G (p.Ala5478=) c.477C>G (p.Ala159=) c.16491C>G (p.Ala5497=) c.16488C>G (p.Ala5496=) c.16479C>G (p.Ala5493=) c.16470C>G (p.Ala5490=) c.16425C>G (p.Ala5475=) c.16398C>G (p.Ala5466=) n.16611C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49022130G= | CA2034963023 | KMT2D | c.404C= n.1106C= n.2068C= n.840C= c.16482C= (p.Ala5494=) c.405C= (p.Ala135=) c.1027C= (n.1027C=) c.1588C= c.16443C= (p.Ala5481=) c.435C= (p.Ala145=) c.16431C= (p.Ala5477=) c.16434C= (p.Ala5478=) c.477C= (p.Ala159=) c.16491C= (p.Ala5497=) c.16488C= (p.Ala5496=) c.16479C= (p.Ala5493=) c.16470C= (p.Ala5490=) c.16425C= (p.Ala5475=) c.16398C= (p.Ala5466=) n.16611C= | |
| 12 | g.49022130G>T | CA6545369 | KMT2D | c.404C>A n.1106C>A n.2068C>A n.840C>A c.16482C>A (p.Ala5494=) c.405C>A (p.Ala135=) c.1027C>A (n.1027C>A) c.1588C>A c.16443C>A (p.Ala5481=) c.435C>A (p.Ala145=) c.16431C>A (p.Ala5477=) c.16434C>A (p.Ala5478=) c.477C>A (p.Ala159=) c.16491C>A (p.Ala5497=) c.16488C>A (p.Ala5496=) c.16479C>A (p.Ala5493=) c.16470C>A (p.Ala5490=) c.16425C>A (p.Ala5475=) c.16398C>A (p.Ala5466=) n.16611C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49022131G>A | CA384676355 | KMT2D | c.403C>T n.1105C>T n.2067C>T n.839C>T c.16481C>T (p.Ala5494Val) c.404C>T (p.Ala135Val) c.1026C>T (n.1026C>T) c.1587C>T c.16442C>T (p.Ala5481Val) c.434C>T (p.Ala145Val) c.16430C>T (p.Ala5477Val) c.16433C>T (p.Ala5478Val) c.476C>T (p.Ala159Val) c.16490C>T (p.Ala5497Val) c.16487C>T (p.Ala5496Val) c.16478C>T (p.Ala5493Val) c.16469C>T (p.Ala5490Val) c.16424C>T (p.Ala5475Val) c.16397C>T (p.Ala5466Val) n.16610C>T | dbSNP COSMIC COSMIC |
| 12 | g.49022131G>C | CA384676363 | KMT2D | c.403C>G n.1105C>G n.2067C>G n.839C>G c.16481C>G (p.Ala5494Gly) c.404C>G (p.Ala135Gly) c.1026C>G (n.1026C>G) c.1587C>G c.16442C>G (p.Ala5481Gly) c.434C>G (p.Ala145Gly) c.16430C>G (p.Ala5477Gly) c.16433C>G (p.Ala5478Gly) c.476C>G (p.Ala159Gly) c.16490C>G (p.Ala5497Gly) c.16487C>G (p.Ala5496Gly) c.16478C>G (p.Ala5493Gly) c.16469C>G (p.Ala5490Gly) c.16424C>G (p.Ala5475Gly) c.16397C>G (p.Ala5466Gly) n.16610C>G | dbSNP |
| 12 | g.49022131G>T | CA384676358 | KMT2D | c.403C>A n.1105C>A n.2067C>A n.839C>A c.16481C>A (p.Ala5494Asp) c.404C>A (p.Ala135Asp) c.1026C>A (n.1026C>A) c.1587C>A c.16442C>A (p.Ala5481Asp) c.434C>A (p.Ala145Asp) c.16430C>A (p.Ala5477Asp) c.16433C>A (p.Ala5478Asp) c.476C>A (p.Ala159Asp) c.16490C>A (p.Ala5497Asp) c.16487C>A (p.Ala5496Asp) c.16478C>A (p.Ala5493Asp) c.16469C>A (p.Ala5490Asp) c.16424C>A (p.Ala5475Asp) c.16397C>A (p.Ala5466Asp) n.16610C>A | dbSNP |
| 12 | g.49022132C>A | CA384676372 | KMT2D | c.402G>T n.1104G>T n.2066G>T n.838G>T c.16480G>T (p.Ala5494Ser) c.403G>T (p.Ala135Ser) c.1025G>T (n.1025G>T) c.1586G>T c.16441G>T (p.Ala5481Ser) c.433G>T (p.Ala145Ser) c.16429G>T (p.Ala5477Ser) c.16432G>T (p.Ala5478Ser) c.475G>T (p.Ala159Ser) c.16489G>T (p.Ala5497Ser) c.16486G>T (p.Ala5496Ser) c.16477G>T (p.Ala5493Ser) c.16468G>T (p.Ala5490Ser) c.16423G>T (p.Ala5475Ser) c.16396G>T (p.Ala5466Ser) n.16609G>T | |
| 12 | g.49022132C>G | CA384676378 | KMT2D | c.402G>C n.1104G>C n.2066G>C n.838G>C c.16480G>C (p.Ala5494Pro) c.403G>C (p.Ala135Pro) c.1025G>C (n.1025G>C) c.1586G>C c.16441G>C (p.Ala5481Pro) c.433G>C (p.Ala145Pro) c.16429G>C (p.Ala5477Pro) c.16432G>C (p.Ala5478Pro) c.475G>C (p.Ala159Pro) c.16489G>C (p.Ala5497Pro) c.16486G>C (p.Ala5496Pro) c.16477G>C (p.Ala5493Pro) c.16468G>C (p.Ala5490Pro) c.16423G>C (p.Ala5475Pro) c.16396G>C (p.Ala5466Pro) n.16609G>C | |
| 12 | g.49022132C>T | CA384676374 | KMT2D | c.402G>A n.1104G>A n.2066G>A n.838G>A c.16480G>A (p.Ala5494Thr) c.403G>A (p.Ala135Thr) c.1025G>A (n.1025G>A) c.1586G>A c.16441G>A (p.Ala5481Thr) c.433G>A (p.Ala145Thr) c.16429G>A (p.Ala5477Thr) c.16432G>A (p.Ala5478Thr) c.475G>A (p.Ala159Thr) c.16489G>A (p.Ala5497Thr) c.16486G>A (p.Ala5496Thr) c.16477G>A (p.Ala5493Thr) c.16468G>A (p.Ala5490Thr) c.16423G>A (p.Ala5475Thr) c.16396G>A (p.Ala5466Thr) n.16609G>A | dbSNP |
| 12 | g.49022133A>C | CA384676382 | KMT2D | c.401T>G n.1103T>G n.2065T>G n.837T>G c.16479T>G (p.Cys5493Trp) c.402T>G (p.Cys134Trp) c.1024T>G (n.1024T>G) c.1585T>G c.16440T>G (p.Cys5480Trp) c.432T>G (p.Cys144Trp) c.16428T>G (p.Cys5476Trp) c.16431T>G (p.Cys5477Trp) c.474T>G (p.Cys158Trp) c.16488T>G (p.Cys5496Trp) c.16485T>G (p.Cys5495Trp) c.16476T>G (p.Cys5492Trp) c.16467T>G (p.Cys5489Trp) c.16422T>G (p.Cys5474Trp) c.16395T>G (p.Cys5465Trp) n.16608T>G | |
| 12 | g.49022133A>G | CA479520919 | KMT2D | c.401T>C n.1103T>C n.2065T>C n.837T>C c.16479T>C (p.Cys5493=) c.402T>C (p.Cys134=) c.1024T>C (n.1024T>C) c.1585T>C c.16440T>C (p.Cys5480=) c.432T>C (p.Cys144=) c.16428T>C (p.Cys5476=) c.16431T>C (p.Cys5477=) c.474T>C (p.Cys158=) c.16488T>C (p.Cys5496=) c.16485T>C (p.Cys5495=) c.16476T>C (p.Cys5492=) c.16467T>C (p.Cys5489=) c.16422T>C (p.Cys5474=) c.16395T>C (p.Cys5465=) n.16608T>C | |
| 12 | g.49022133A>T | CA384676384 | KMT2D | c.401T>A n.1103T>A n.2065T>A n.837T>A c.16479T>A (p.Cys5493Ter) c.402T>A (p.Cys134Ter) c.1024T>A (n.1024T>A) c.1585T>A c.16440T>A (p.Cys5480Ter) c.432T>A (p.Cys144Ter) c.16428T>A (p.Cys5476Ter) c.16431T>A (p.Cys5477Ter) c.474T>A (p.Cys158Ter) c.16488T>A (p.Cys5496Ter) c.16485T>A (p.Cys5495Ter) c.16476T>A (p.Cys5492Ter) c.16467T>A (p.Cys5489Ter) c.16422T>A (p.Cys5474Ter) c.16395T>A (p.Cys5465Ter) n.16608T>A | dbSNP |
| 12 | g.49022134C>A | CA384676386 | KMT2D | c.400G>T n.1102G>T n.2064G>T n.836G>T c.16478G>T (p.Cys5493Phe) c.401G>T (p.Cys134Phe) c.1023G>T (n.1023G>T) c.1584G>T c.16439G>T (p.Cys5480Phe) c.431G>T (p.Cys144Phe) c.16427G>T (p.Cys5476Phe) c.16430G>T (p.Cys5477Phe) c.473G>T (p.Cys158Phe) c.16487G>T (p.Cys5496Phe) c.16484G>T (p.Cys5495Phe) c.16475G>T (p.Cys5492Phe) c.16466G>T (p.Cys5489Phe) c.16421G>T (p.Cys5474Phe) c.16394G>T (p.Cys5465Phe) n.16607G>T | |
| 12 | g.49022134C= | CA2034963025 | KMT2D | c.400G= n.1102G= n.2064G= n.836G= c.16478G= (p.Cys5493=) c.401G= (p.Cys134=) c.1023G= (n.1023G=) c.1584G= c.16439G= (p.Cys5480=) c.431G= (p.Cys144=) c.16427G= (p.Cys5476=) c.16430G= (p.Cys5477=) c.473G= (p.Cys158=) c.16487G= (p.Cys5496=) c.16484G= (p.Cys5495=) c.16475G= (p.Cys5492=) c.16466G= (p.Cys5489=) c.16421G= (p.Cys5474=) c.16394G= (p.Cys5465=) n.16607G= | |
| 12 | g.49022134C>G | CA384676389 | KMT2D | c.400G>C n.1102G>C n.2064G>C n.836G>C c.16478G>C (p.Cys5493Ser) c.401G>C (p.Cys134Ser) c.1023G>C (n.1023G>C) c.1584G>C c.16439G>C (p.Cys5480Ser) c.431G>C (p.Cys144Ser) c.16427G>C (p.Cys5476Ser) c.16430G>C (p.Cys5477Ser) c.473G>C (p.Cys158Ser) c.16487G>C (p.Cys5496Ser) c.16484G>C (p.Cys5495Ser) c.16475G>C (p.Cys5492Ser) c.16466G>C (p.Cys5489Ser) c.16421G>C (p.Cys5474Ser) c.16394G>C (p.Cys5465Ser) n.16607G>C | dbSNP |
| 12 | g.49022134C>T | CA384676391 | KMT2D | c.400G>A n.1102G>A n.2064G>A n.836G>A c.16478G>A (p.Cys5493Tyr) c.401G>A (p.Cys134Tyr) c.1023G>A (n.1023G>A) c.1584G>A c.16439G>A (p.Cys5480Tyr) c.431G>A (p.Cys144Tyr) c.16427G>A (p.Cys5476Tyr) c.16430G>A (p.Cys5477Tyr) c.473G>A (p.Cys158Tyr) c.16487G>A (p.Cys5496Tyr) c.16484G>A (p.Cys5495Tyr) c.16475G>A (p.Cys5492Tyr) c.16466G>A (p.Cys5489Tyr) c.16421G>A (p.Cys5474Tyr) c.16394G>A (p.Cys5465Tyr) n.16607G>A | dbSNP |
| 12 | g.49022135A>C | CA384676394 | KMT2D | c.399T>G n.1101T>G n.2063T>G n.835T>G c.16477T>G (p.Cys5493Gly) c.400T>G (p.Cys134Gly) c.1022T>G (n.1022T>G) c.1583T>G c.16438T>G (p.Cys5480Gly) c.430T>G (p.Cys144Gly) c.16426T>G (p.Cys5476Gly) c.16429T>G (p.Cys5477Gly) c.472T>G (p.Cys158Gly) c.16486T>G (p.Cys5496Gly) c.16483T>G (p.Cys5495Gly) c.16474T>G (p.Cys5492Gly) c.16465T>G (p.Cys5489Gly) c.16420T>G (p.Cys5474Gly) c.16393T>G (p.Cys5465Gly) n.16606T>G | COSMIC COSMIC |
| 12 | g.49022135A>G | CA384676405 | KMT2D | c.399T>C n.1101T>C n.2063T>C n.835T>C c.16477T>C (p.Cys5493Arg) c.400T>C (p.Cys134Arg) c.1022T>C (n.1022T>C) c.1583T>C c.16438T>C (p.Cys5480Arg) c.430T>C (p.Cys144Arg) c.16426T>C (p.Cys5476Arg) c.16429T>C (p.Cys5477Arg) c.472T>C (p.Cys158Arg) c.16486T>C (p.Cys5496Arg) c.16483T>C (p.Cys5495Arg) c.16474T>C (p.Cys5492Arg) c.16465T>C (p.Cys5489Arg) c.16420T>C (p.Cys5474Arg) c.16393T>C (p.Cys5465Arg) n.16606T>C | dbSNP |
| 12 | g.49022135A>T | CA384676408 | KMT2D | c.399T>A n.1101T>A n.2063T>A n.835T>A c.16477T>A (p.Cys5493Ser) c.400T>A (p.Cys134Ser) c.1022T>A (n.1022T>A) c.1583T>A c.16438T>A (p.Cys5480Ser) c.430T>A (p.Cys144Ser) c.16426T>A (p.Cys5476Ser) c.16429T>A (p.Cys5477Ser) c.472T>A (p.Cys158Ser) c.16486T>A (p.Cys5496Ser) c.16483T>A (p.Cys5495Ser) c.16474T>A (p.Cys5492Ser) c.16465T>A (p.Cys5489Ser) c.16420T>A (p.Cys5474Ser) c.16393T>A (p.Cys5465Ser) n.16606T>A | dbSNP |
| 12 | g.49022136G>A | CA479520922 | KMT2D | c.398C>T n.1100C>T n.2062C>T n.834C>T c.16476C>T (p.Ser5492=) c.399C>T (p.Ser133=) c.1021C>T (n.1021C>T) c.1582C>T c.16437C>T (p.Ser5479=) c.429C>T (p.Ser143=) c.16425C>T (p.Ser5475=) c.16428C>T (p.Ser5476=) c.471C>T (p.Ser157=) c.16485C>T (p.Ser5495=) c.16482C>T (p.Ser5494=) c.16473C>T (p.Ser5491=) c.16464C>T (p.Ser5488=) c.16419C>T (p.Ser5473=) c.16392C>T (p.Ser5464=) n.16605C>T | dbSNP gnomAD v4 |
| 12 | g.49022136G>C | CA479520924 | KMT2D | c.398C>G n.1100C>G n.2062C>G n.834C>G c.16476C>G (p.Ser5492=) c.399C>G (p.Ser133=) c.1021C>G (n.1021C>G) c.1582C>G c.16437C>G (p.Ser5479=) c.429C>G (p.Ser143=) c.16425C>G (p.Ser5475=) c.16428C>G (p.Ser5476=) c.471C>G (p.Ser157=) c.16485C>G (p.Ser5495=) c.16482C>G (p.Ser5494=) c.16473C>G (p.Ser5491=) c.16464C>G (p.Ser5488=) c.16419C>G (p.Ser5473=) c.16392C>G (p.Ser5464=) n.16605C>G | dbSNP |
| 12 | g.49022136G= | CA2034963026 | KMT2D | c.398C= n.1100C= n.2062C= n.834C= c.16476C= (p.Ser5492=) c.399C= (p.Ser133=) c.1021C= (n.1021C=) c.1582C= c.16437C= (p.Ser5479=) c.429C= (p.Ser143=) c.16425C= (p.Ser5475=) c.16428C= (p.Ser5476=) c.471C= (p.Ser157=) c.16485C= (p.Ser5495=) c.16482C= (p.Ser5494=) c.16473C= (p.Ser5491=) c.16464C= (p.Ser5488=) c.16419C= (p.Ser5473=) c.16392C= (p.Ser5464=) n.16605C= | |
| 12 | g.49022136G>T | CA479520925 | KMT2D | c.398C>A n.1100C>A n.2062C>A n.834C>A c.16476C>A (p.Ser5492=) c.399C>A (p.Ser133=) c.1021C>A (n.1021C>A) c.1582C>A c.16437C>A (p.Ser5479=) c.429C>A (p.Ser143=) c.16425C>A (p.Ser5475=) c.16428C>A (p.Ser5476=) c.471C>A (p.Ser157=) c.16485C>A (p.Ser5495=) c.16482C>A (p.Ser5494=) c.16473C>A (p.Ser5491=) c.16464C>A (p.Ser5488=) c.16419C>A (p.Ser5473=) c.16392C>A (p.Ser5464=) n.16605C>A | dbSNP |
| 12 | g.49022137del | CA2695216337 | KMT2D | c.398del n.1100del n.2062del n.834del c.16476del (p.Cys5493ValfsTer10) c.399del (p.Cys134ValfsTer10) c.1021del (n.1021del) c.1582del c.16437del (p.Cys5480ValfsTer10) c.429del (p.Cys144ValfsTer10) c.16425del (p.Cys5476ValfsTer10) c.16428del (p.Cys5477ValfsTer10) c.471del (p.Cys158ValfsTer10) c.16485del (p.Cys5496ValfsTer10) c.16482del (p.Cys5495ValfsTer10) c.16473del (p.Cys5492ValfsTer10) c.16464del (p.Cys5489ValfsTer10) c.16419del (p.Cys5474ValfsTer10) c.16392del (p.Cys5465ValfsTer10) n.16605del | |
| 12 | g.49022137G>A | CA384676411 | KMT2D | c.397C>T n.1099C>T n.2061C>T n.833C>T c.16475C>T (p.Ser5492Phe) c.398C>T (p.Ser133Phe) c.1020C>T (n.1020C>T) c.1581C>T c.16436C>T (p.Ser5479Phe) c.428C>T (p.Ser143Phe) c.16424C>T (p.Ser5475Phe) c.16427C>T (p.Ser5476Phe) c.470C>T (p.Ser157Phe) c.16484C>T (p.Ser5495Phe) c.16481C>T (p.Ser5494Phe) c.16472C>T (p.Ser5491Phe) c.16463C>T (p.Ser5488Phe) c.16418C>T (p.Ser5473Phe) c.16391C>T (p.Ser5464Phe) n.16604C>T | dbSNP |
| 12 | g.49022137G>C | CA384676416 | KMT2D | c.397C>G n.1099C>G n.2061C>G n.833C>G c.16475C>G (p.Ser5492Cys) c.398C>G (p.Ser133Cys) c.1020C>G (n.1020C>G) c.1581C>G c.16436C>G (p.Ser5479Cys) c.428C>G (p.Ser143Cys) c.16424C>G (p.Ser5475Cys) c.16427C>G (p.Ser5476Cys) c.470C>G (p.Ser157Cys) c.16484C>G (p.Ser5495Cys) c.16481C>G (p.Ser5494Cys) c.16472C>G (p.Ser5491Cys) c.16463C>G (p.Ser5488Cys) c.16418C>G (p.Ser5473Cys) c.16391C>G (p.Ser5464Cys) n.16604C>G | dbSNP |
| 12 | g.49022137G>T | CA384676424 | KMT2D | c.397C>A n.1099C>A n.2061C>A n.833C>A c.16475C>A (p.Ser5492Tyr) c.398C>A (p.Ser133Tyr) c.1020C>A (n.1020C>A) c.1581C>A c.16436C>A (p.Ser5479Tyr) c.428C>A (p.Ser143Tyr) c.16424C>A (p.Ser5475Tyr) c.16427C>A (p.Ser5476Tyr) c.470C>A (p.Ser157Tyr) c.16484C>A (p.Ser5495Tyr) c.16481C>A (p.Ser5494Tyr) c.16472C>A (p.Ser5491Tyr) c.16463C>A (p.Ser5488Tyr) c.16418C>A (p.Ser5473Tyr) c.16391C>A (p.Ser5464Tyr) n.16604C>A | |
| 12 | g.49022138A>C | CA384676427 | KMT2D | c.396T>G n.1098T>G n.2060T>G n.832T>G c.16474T>G (p.Ser5492Ala) c.397T>G (p.Ser133Ala) c.1019T>G (n.1019T>G) c.1580T>G c.16435T>G (p.Ser5479Ala) c.427T>G (p.Ser143Ala) c.16423T>G (p.Ser5475Ala) c.16426T>G (p.Ser5476Ala) c.469T>G (p.Ser157Ala) c.16483T>G (p.Ser5495Ala) c.16480T>G (p.Ser5494Ala) c.16471T>G (p.Ser5491Ala) c.16462T>G (p.Ser5488Ala) c.16417T>G (p.Ser5473Ala) c.16390T>G (p.Ser5464Ala) n.16603T>G | |
| 12 | g.49022138A>G | CA384676429 | KMT2D | c.396T>C n.1098T>C n.2060T>C n.832T>C c.16474T>C (p.Ser5492Pro) c.397T>C (p.Ser133Pro) c.1019T>C (n.1019T>C) c.1580T>C c.16435T>C (p.Ser5479Pro) c.427T>C (p.Ser143Pro) c.16423T>C (p.Ser5475Pro) c.16426T>C (p.Ser5476Pro) c.469T>C (p.Ser157Pro) c.16483T>C (p.Ser5495Pro) c.16480T>C (p.Ser5494Pro) c.16471T>C (p.Ser5491Pro) c.16462T>C (p.Ser5488Pro) c.16417T>C (p.Ser5473Pro) c.16390T>C (p.Ser5464Pro) n.16603T>C | |
| 12 | g.49022138A>T | CA384676433 | KMT2D | c.396T>A n.1098T>A n.2060T>A n.832T>A c.16474T>A (p.Ser5492Thr) c.397T>A (p.Ser133Thr) c.1019T>A (n.1019T>A) c.1580T>A c.16435T>A (p.Ser5479Thr) c.427T>A (p.Ser143Thr) c.16423T>A (p.Ser5475Thr) c.16426T>A (p.Ser5476Thr) c.469T>A (p.Ser157Thr) c.16483T>A (p.Ser5495Thr) c.16480T>A (p.Ser5494Thr) c.16471T>A (p.Ser5491Thr) c.16462T>A (p.Ser5488Thr) c.16417T>A (p.Ser5473Thr) c.16390T>A (p.Ser5464Thr) n.16603T>A | dbSNP |
| 12 | g.49022139A>C | CA384676436 | KMT2D | c.395T>G n.1097T>G n.2059T>G n.831T>G c.16473T>G (p.His5491Gln) c.396T>G (p.His132Gln) c.1018T>G (n.1018T>G) c.1579T>G c.16434T>G (p.His5478Gln) c.426T>G (p.His142Gln) c.16422T>G (p.His5474Gln) c.16425T>G (p.His5475Gln) c.468T>G (p.His156Gln) c.16482T>G (p.His5494Gln) c.16479T>G (p.His5493Gln) c.16470T>G (p.His5490Gln) c.16461T>G (p.His5487Gln) c.16416T>G (p.His5472Gln) c.16389T>G (p.His5463Gln) n.16602T>G | |
| 12 | g.49022139A>G | CA479520926 | KMT2D | c.395T>C n.1097T>C n.2059T>C n.831T>C c.16473T>C (p.His5491=) c.396T>C (p.His132=) c.1018T>C (n.1018T>C) c.1579T>C c.16434T>C (p.His5478=) c.426T>C (p.His142=) c.16422T>C (p.His5474=) c.16425T>C (p.His5475=) c.468T>C (p.His156=) c.16482T>C (p.His5494=) c.16479T>C (p.His5493=) c.16470T>C (p.His5490=) c.16461T>C (p.His5487=) c.16416T>C (p.His5472=) c.16389T>C (p.His5463=) n.16602T>C | |
| 12 | g.49022139A>T | CA384676435 | KMT2D | c.395T>A n.1097T>A n.2059T>A n.831T>A c.16473T>A (p.His5491Gln) c.396T>A (p.His132Gln) c.1018T>A (n.1018T>A) c.1579T>A c.16434T>A (p.His5478Gln) c.426T>A (p.His142Gln) c.16422T>A (p.His5474Gln) c.16425T>A (p.His5475Gln) c.468T>A (p.His156Gln) c.16482T>A (p.His5494Gln) c.16479T>A (p.His5493Gln) c.16470T>A (p.His5490Gln) c.16461T>A (p.His5487Gln) c.16416T>A (p.His5472Gln) c.16389T>A (p.His5463Gln) n.16602T>A | dbSNP |
| 12 | g.49022140T>A | CA384676437 | KMT2D | c.394A>T n.1096A>T n.2058A>T n.830A>T c.16472A>T (p.His5491Leu) c.395A>T (p.His132Leu) c.1017A>T (n.1017A>T) c.1578A>T c.16433A>T (p.His5478Leu) c.425A>T (p.His142Leu) c.16421A>T (p.His5474Leu) c.16424A>T (p.His5475Leu) c.467A>T (p.His156Leu) c.16481A>T (p.His5494Leu) c.16478A>T (p.His5493Leu) c.16469A>T (p.His5490Leu) c.16460A>T (p.His5487Leu) c.16415A>T (p.His5472Leu) c.16388A>T (p.His5463Leu) n.16601A>T | dbSNP |
| 12 | g.49022140T>C | CA384676441 | KMT2D | c.394A>G n.1096A>G n.2058A>G n.830A>G c.16472A>G (p.His5491Arg) c.395A>G (p.His132Arg) c.1017A>G (n.1017A>G) c.1578A>G c.16433A>G (p.His5478Arg) c.425A>G (p.His142Arg) c.16421A>G (p.His5474Arg) c.16424A>G (p.His5475Arg) c.467A>G (p.His156Arg) c.16481A>G (p.His5494Arg) c.16478A>G (p.His5493Arg) c.16469A>G (p.His5490Arg) c.16460A>G (p.His5487Arg) c.16415A>G (p.His5472Arg) c.16388A>G (p.His5463Arg) n.16601A>G | dbSNP |
| 12 | g.49022140T>G | CA384676444 | KMT2D | c.394A>C n.1096A>C n.2058A>C n.830A>C c.16472A>C (p.His5491Pro) c.395A>C (p.His132Pro) c.1017A>C (n.1017A>C) c.1578A>C c.16433A>C (p.His5478Pro) c.425A>C (p.His142Pro) c.16421A>C (p.His5474Pro) c.16424A>C (p.His5475Pro) c.467A>C (p.His156Pro) c.16481A>C (p.His5494Pro) c.16478A>C (p.His5493Pro) c.16469A>C (p.His5490Pro) c.16460A>C (p.His5487Pro) c.16415A>C (p.His5472Pro) c.16388A>C (p.His5463Pro) n.16601A>C | dbSNP |
| 12 | g.49022141G>A | CA384676449 | KMT2D | c.393C>T n.1095C>T n.2057C>T n.829C>T c.16471C>T (p.His5491Tyr) c.394C>T (p.His132Tyr) c.1016C>T (n.1016C>T) c.1577C>T c.16432C>T (p.His5478Tyr) c.424C>T (p.His142Tyr) c.16420C>T (p.His5474Tyr) c.16423C>T (p.His5475Tyr) c.466C>T (p.His156Tyr) c.16480C>T (p.His5494Tyr) c.16477C>T (p.His5493Tyr) c.16468C>T (p.His5490Tyr) c.16459C>T (p.His5487Tyr) c.16414C>T (p.His5472Tyr) c.16387C>T (p.His5463Tyr) n.16600C>T | dbSNP |
| 12 | g.49022141G>C | CA384676453 | KMT2D | c.393C>G n.1095C>G n.2057C>G n.829C>G c.16471C>G (p.His5491Asp) c.394C>G (p.His132Asp) c.1016C>G (n.1016C>G) c.1577C>G c.16432C>G (p.His5478Asp) c.424C>G (p.His142Asp) c.16420C>G (p.His5474Asp) c.16423C>G (p.His5475Asp) c.466C>G (p.His156Asp) c.16480C>G (p.His5494Asp) c.16477C>G (p.His5493Asp) c.16468C>G (p.His5490Asp) c.16459C>G (p.His5487Asp) c.16414C>G (p.His5472Asp) c.16387C>G (p.His5463Asp) n.16600C>G | dbSNP |
| 12 | g.49022141G>T | CA384676455 | KMT2D | c.393C>A n.1095C>A n.2057C>A n.829C>A c.16471C>A (p.His5491Asn) c.394C>A (p.His132Asn) c.1016C>A (n.1016C>A) c.1577C>A c.16432C>A (p.His5478Asn) c.424C>A (p.His142Asn) c.16420C>A (p.His5474Asn) c.16423C>A (p.His5475Asn) c.466C>A (p.His156Asn) c.16480C>A (p.His5494Asn) c.16477C>A (p.His5493Asn) c.16468C>A (p.His5490Asn) c.16459C>A (p.His5487Asn) c.16414C>A (p.His5472Asn) c.16387C>A (p.His5463Asn) n.16600C>A | |
| 12 | g.49022142G>A | CA479520929 | KMT2D | c.392C>T n.1094C>T n.2056C>T n.828C>T c.16470C>T (p.Asn5490=) c.393C>T (p.Asn131=) c.1015C>T (n.1015C>T) c.1576C>T c.16431C>T (p.Asn5477=) c.423C>T (p.Asn141=) c.16419C>T (p.Asn5473=) c.16422C>T (p.Asn5474=) c.465C>T (p.Asn155=) c.16479C>T (p.Asn5493=) c.16476C>T (p.Asn5492=) c.16467C>T (p.Asn5489=) c.16458C>T (p.Asn5486=) c.16413C>T (p.Asn5471=) c.16386C>T (p.Asn5462=) n.16599C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49022142G>C | CA384676471 | KMT2D | c.392C>G n.1094C>G n.2056C>G n.828C>G c.16470C>G (p.Asn5490Lys) c.393C>G (p.Asn131Lys) c.1015C>G (n.1015C>G) c.1576C>G c.16431C>G (p.Asn5477Lys) c.423C>G (p.Asn141Lys) c.16419C>G (p.Asn5473Lys) c.16422C>G (p.Asn5474Lys) c.465C>G (p.Asn155Lys) c.16479C>G (p.Asn5493Lys) c.16476C>G (p.Asn5492Lys) c.16467C>G (p.Asn5489Lys) c.16458C>G (p.Asn5486Lys) c.16413C>G (p.Asn5471Lys) c.16386C>G (p.Asn5462Lys) n.16599C>G | dbSNP |
| 12 | g.49022142G= | CA2034963027 | KMT2D | c.392C= n.1094C= n.2056C= n.828C= c.16470C= (p.Asn5490=) c.393C= (p.Asn131=) c.1015C= (n.1015C=) c.1576C= c.16431C= (p.Asn5477=) c.423C= (p.Asn141=) c.16419C= (p.Asn5473=) c.16422C= (p.Asn5474=) c.465C= (p.Asn155=) c.16479C= (p.Asn5493=) c.16476C= (p.Asn5492=) c.16467C= (p.Asn5489=) c.16458C= (p.Asn5486=) c.16413C= (p.Asn5471=) c.16386C= (p.Asn5462=) n.16599C= | |
| 12 | g.49022142G>T | CA384676474 | KMT2D | c.392C>A n.1094C>A n.2056C>A n.828C>A c.16470C>A (p.Asn5490Lys) c.393C>A (p.Asn131Lys) c.1015C>A (n.1015C>A) c.1576C>A c.16431C>A (p.Asn5477Lys) c.423C>A (p.Asn141Lys) c.16419C>A (p.Asn5473Lys) c.16422C>A (p.Asn5474Lys) c.465C>A (p.Asn155Lys) c.16479C>A (p.Asn5493Lys) c.16476C>A (p.Asn5492Lys) c.16467C>A (p.Asn5489Lys) c.16458C>A (p.Asn5486Lys) c.16413C>A (p.Asn5471Lys) c.16386C>A (p.Asn5462Lys) n.16599C>A | |
| 12 | g.49022143T>A | CA384676478 | KMT2D | c.391A>T n.1093A>T n.2055A>T n.827A>T c.16469A>T (p.Asn5490Ile) c.392A>T (p.Asn131Ile) c.1014A>T (n.1014A>T) c.1575A>T c.16430A>T (p.Asn5477Ile) c.422A>T (p.Asn141Ile) c.16418A>T (p.Asn5473Ile) c.16421A>T (p.Asn5474Ile) c.464A>T (p.Asn155Ile) c.16478A>T (p.Asn5493Ile) c.16475A>T (p.Asn5492Ile) c.16466A>T (p.Asn5489Ile) c.16457A>T (p.Asn5486Ile) c.16412A>T (p.Asn5471Ile) c.16385A>T (p.Asn5462Ile) n.16598A>T | dbSNP |
| 12 | g.49022143T>C | CA384676481 | KMT2D | c.391A>G n.1093A>G n.2055A>G n.827A>G c.16469A>G (p.Asn5490Ser) c.392A>G (p.Asn131Ser) c.1014A>G (n.1014A>G) c.1575A>G c.16430A>G (p.Asn5477Ser) c.422A>G (p.Asn141Ser) c.16418A>G (p.Asn5473Ser) c.16421A>G (p.Asn5474Ser) c.464A>G (p.Asn155Ser) c.16478A>G (p.Asn5493Ser) c.16475A>G (p.Asn5492Ser) c.16466A>G (p.Asn5489Ser) c.16457A>G (p.Asn5486Ser) c.16412A>G (p.Asn5471Ser) c.16385A>G (p.Asn5462Ser) n.16598A>G | |
| 12 | g.49022143T>G | CA384676496 | KMT2D | c.391A>C n.1093A>C n.2055A>C n.827A>C c.16469A>C (p.Asn5490Thr) c.392A>C (p.Asn131Thr) c.1014A>C (n.1014A>C) c.1575A>C c.16430A>C (p.Asn5477Thr) c.422A>C (p.Asn141Thr) c.16418A>C (p.Asn5473Thr) c.16421A>C (p.Asn5474Thr) c.464A>C (p.Asn155Thr) c.16478A>C (p.Asn5493Thr) c.16475A>C (p.Asn5492Thr) c.16466A>C (p.Asn5489Thr) c.16457A>C (p.Asn5486Thr) c.16412A>C (p.Asn5471Thr) c.16385A>C (p.Asn5462Thr) n.16598A>C | dbSNP |
| 12 | g.49022144T>A | CA384676511 | KMT2D | c.390A>T n.1092A>T n.2054A>T n.826A>T c.16468A>T (p.Asn5490Tyr) c.391A>T (p.Asn131Tyr) c.1013A>T (n.1013A>T) c.1574A>T c.16429A>T (p.Asn5477Tyr) c.421A>T (p.Asn141Tyr) c.16417A>T (p.Asn5473Tyr) c.16420A>T (p.Asn5474Tyr) c.463A>T (p.Asn155Tyr) c.16477A>T (p.Asn5493Tyr) c.16474A>T (p.Asn5492Tyr) c.16465A>T (p.Asn5489Tyr) c.16456A>T (p.Asn5486Tyr) c.16411A>T (p.Asn5471Tyr) c.16384A>T (p.Asn5462Tyr) n.16597A>T | |
| 12 | g.49022144T>C | CA384676509 | KMT2D | c.390A>G n.1092A>G n.2054A>G n.826A>G c.16468A>G (p.Asn5490Asp) c.391A>G (p.Asn131Asp) c.1013A>G (n.1013A>G) c.1574A>G c.16429A>G (p.Asn5477Asp) c.421A>G (p.Asn141Asp) c.16417A>G (p.Asn5473Asp) c.16420A>G (p.Asn5474Asp) c.463A>G (p.Asn155Asp) c.16477A>G (p.Asn5493Asp) c.16474A>G (p.Asn5492Asp) c.16465A>G (p.Asn5489Asp) c.16456A>G (p.Asn5486Asp) c.16411A>G (p.Asn5471Asp) c.16384A>G (p.Asn5462Asp) n.16597A>G | |
| 12 | g.49022144T>G | CA384676507 | KMT2D | c.390A>C n.1092A>C n.2054A>C n.826A>C c.16468A>C (p.Asn5490His) c.391A>C (p.Asn131His) c.1013A>C (n.1013A>C) c.1574A>C c.16429A>C (p.Asn5477His) c.421A>C (p.Asn141His) c.16417A>C (p.Asn5473His) c.16420A>C (p.Asn5474His) c.463A>C (p.Asn155His) c.16477A>C (p.Asn5493His) c.16474A>C (p.Asn5492His) c.16465A>C (p.Asn5489His) c.16456A>C (p.Asn5486His) c.16411A>C (p.Asn5471His) c.16384A>C (p.Asn5462His) n.16597A>C |