| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.152183137_152183138del | CA16618422 | KMT2C | c.1822_1823del c.5103_5104del (p.Arg1701SerfsTer6) c.576-542_576-541del c.2451_2452del (p.Arg817SerfsTer6) c.725_726del c.*1196_*1197del (n.*1196_*1197del) c.4878_4879del (p.Arg1626SerfsTer6) c.2499_2500del (p.Arg833SerfsTer6) c.3801_3802del (p.Arg1267SerfsTer6) n.28_29del n.2814_2815del c.*2623_*2624del (n.*2623_*2624del) c.5154_5155del (p.Arg1718SerfsTer6) c.5151_5152del (p.Arg1717SerfsTer6) c.5106_5107del (p.Arg1702SerfsTer6) c.5034_5035del (p.Arg1678SerfsTer6) c.5001_5002del (p.Arg1667SerfsTer6) c.4239_4240del (p.Arg1413SerfsTer6) c.2700_2701del (p.Arg900SerfsTer6) n.5362_5363del c.5121_5122del (p.Arg1707SerfsTer6) c.5007_5008del (p.Arg1669SerfsTer6) c.5134-542_5134-541del (n.5134-542_5134-541del) c.1824_1825del (p.Arg608SerfsTer6) c.1428_1429del (p.Arg476SerfsTer6) n.5386_5387del | ClinVar dbSNP |
| 7 | g.152183137C>A | CA370100486 | KMT2C | c.1821G>T c.5102G>T (p.Arg1701Ile) c.576-543G>T c.2450G>T (p.Arg817Ile) c.724G>T c.*1195G>T (n.*1195G>T) c.4877G>T (p.Arg1626Ile) c.2498G>T (p.Arg833Ile) c.3800G>T (p.Arg1267Ile) n.27G>T n.2813G>T c.*2622G>T (n.*2622G>T) c.5153G>T (p.Arg1718Ile) c.5150G>T (p.Arg1717Ile) c.5105G>T (p.Arg1702Ile) c.5033G>T (p.Arg1678Ile) c.5000G>T (p.Arg1667Ile) c.4238G>T (p.Arg1413Ile) c.2699G>T (p.Arg900Ile) n.5361G>T c.5120G>T (p.Arg1707Ile) c.5006G>T (p.Arg1669Ile) c.5134-543G>T (n.5134-543G>T) c.1823G>T (p.Arg608Ile) c.1427G>T (p.Arg476Ile) n.5385G>T | |
| 7 | g.152183137C>G | CA370100488 | KMT2C | c.1821G>C c.5102G>C (p.Arg1701Thr) c.576-543G>C c.2450G>C (p.Arg817Thr) c.724G>C c.*1195G>C (n.*1195G>C) c.4877G>C (p.Arg1626Thr) c.2498G>C (p.Arg833Thr) c.3800G>C (p.Arg1267Thr) n.27G>C n.2813G>C c.*2622G>C (n.*2622G>C) c.5153G>C (p.Arg1718Thr) c.5150G>C (p.Arg1717Thr) c.5105G>C (p.Arg1702Thr) c.5033G>C (p.Arg1678Thr) c.5000G>C (p.Arg1667Thr) c.4238G>C (p.Arg1413Thr) c.2699G>C (p.Arg900Thr) n.5361G>C c.5120G>C (p.Arg1707Thr) c.5006G>C (p.Arg1669Thr) c.5134-543G>C (n.5134-543G>C) c.1823G>C (p.Arg608Thr) c.1427G>C (p.Arg476Thr) n.5385G>C | dbSNP |
| 7 | g.152183137C>T | CA370100490 | KMT2C | c.1821G>A c.5102G>A (p.Arg1701Lys) c.576-543G>A c.2450G>A (p.Arg817Lys) c.724G>A c.*1195G>A (n.*1195G>A) c.4877G>A (p.Arg1626Lys) c.2498G>A (p.Arg833Lys) c.3800G>A (p.Arg1267Lys) n.27G>A n.2813G>A c.*2622G>A (n.*2622G>A) c.5153G>A (p.Arg1718Lys) c.5150G>A (p.Arg1717Lys) c.5105G>A (p.Arg1702Lys) c.5033G>A (p.Arg1678Lys) c.5000G>A (p.Arg1667Lys) c.4238G>A (p.Arg1413Lys) c.2699G>A (p.Arg900Lys) n.5361G>A c.5120G>A (p.Arg1707Lys) c.5006G>A (p.Arg1669Lys) c.5134-543G>A (n.5134-543G>A) c.1823G>A (p.Arg608Lys) c.1427G>A (p.Arg476Lys) n.5385G>A | dbSNP |
| 7 | g.152183138T>A | CA370100492 | KMT2C | c.1820A>T c.5101A>T (p.Arg1701Ter) c.576-544A>T c.2449A>T (p.Arg817Ter) c.723A>T c.*1194A>T (n.*1194A>T) c.4876A>T (p.Arg1626Ter) c.2497A>T (p.Arg833Ter) c.3799A>T (p.Arg1267Ter) n.26A>T n.2812A>T c.*2621A>T (n.*2621A>T) c.5152A>T (p.Arg1718Ter) c.5149A>T (p.Arg1717Ter) c.5104A>T (p.Arg1702Ter) c.5032A>T (p.Arg1678Ter) c.4999A>T (p.Arg1667Ter) c.4237A>T (p.Arg1413Ter) c.2698A>T (p.Arg900Ter) n.5360A>T c.5119A>T (p.Arg1707Ter) c.5005A>T (p.Arg1669Ter) c.5134-544A>T (n.5134-544A>T) c.1822A>T (p.Arg608Ter) c.1426A>T (p.Arg476Ter) n.5384A>T | |
| 7 | g.152183138T>C | CA370100494 | KMT2C | c.1820A>G c.5101A>G (p.Arg1701Gly) c.576-544A>G c.2449A>G (p.Arg817Gly) c.723A>G c.*1194A>G (n.*1194A>G) c.4876A>G (p.Arg1626Gly) c.2497A>G (p.Arg833Gly) c.3799A>G (p.Arg1267Gly) n.26A>G n.2812A>G c.*2621A>G (n.*2621A>G) c.5152A>G (p.Arg1718Gly) c.5149A>G (p.Arg1717Gly) c.5104A>G (p.Arg1702Gly) c.5032A>G (p.Arg1678Gly) c.4999A>G (p.Arg1667Gly) c.4237A>G (p.Arg1413Gly) c.2698A>G (p.Arg900Gly) n.5360A>G c.5119A>G (p.Arg1707Gly) c.5005A>G (p.Arg1669Gly) c.5134-544A>G (n.5134-544A>G) c.1822A>G (p.Arg608Gly) c.1426A>G (p.Arg476Gly) n.5384A>G | |
| 7 | g.152183138T>G | CA458689903 | KMT2C | c.1820A>C c.5101A>C (p.Arg1701=) c.576-544A>C c.2449A>C (p.Arg817=) c.723A>C c.*1194A>C (n.*1194A>C) c.4876A>C (p.Arg1626=) c.2497A>C (p.Arg833=) c.3799A>C (p.Arg1267=) n.26A>C n.2812A>C c.*2621A>C (n.*2621A>C) c.5152A>C (p.Arg1718=) c.5149A>C (p.Arg1717=) c.5104A>C (p.Arg1702=) c.5032A>C (p.Arg1678=) c.4999A>C (p.Arg1667=) c.4237A>C (p.Arg1413=) c.2698A>C (p.Arg900=) n.5360A>C c.5119A>C (p.Arg1707=) c.5005A>C (p.Arg1669=) c.5134-544A>C (n.5134-544A>C) c.1822A>C (p.Arg608=) c.1426A>C (p.Arg476=) n.5384A>C | |
| 7 | g.152183139G>A | CA458689905 | KMT2C | c.1819C>T c.5100C>T (p.Asn1700=) c.576-545C>T c.2448C>T (p.Asn816=) c.722C>T c.*1193C>T (n.*1193C>T) c.4875C>T (p.Asn1625=) c.2496C>T (p.Asn832=) c.3798C>T (p.Asn1266=) n.25C>T n.2811C>T c.*2620C>T (n.*2620C>T) c.5151C>T (p.Asn1717=) c.5148C>T (p.Asn1716=) c.5103C>T (p.Asn1701=) c.5031C>T (p.Asn1677=) c.4998C>T (p.Asn1666=) c.4236C>T (p.Asn1412=) c.2697C>T (p.Asn899=) n.5359C>T c.5118C>T (p.Asn1706=) c.5004C>T (p.Asn1668=) c.5134-545C>T (n.5134-545C>T) c.1821C>T (p.Asn607=) c.1425C>T (p.Asn475=) n.5383C>T | gnomAD v4 |
| 7 | g.152183139G>C | CA370100497 | KMT2C | c.1819C>G c.5100C>G (p.Asn1700Lys) c.576-545C>G c.2448C>G (p.Asn816Lys) c.722C>G c.*1193C>G (n.*1193C>G) c.4875C>G (p.Asn1625Lys) c.2496C>G (p.Asn832Lys) c.3798C>G (p.Asn1266Lys) n.25C>G n.2811C>G c.*2620C>G (n.*2620C>G) c.5151C>G (p.Asn1717Lys) c.5148C>G (p.Asn1716Lys) c.5103C>G (p.Asn1701Lys) c.5031C>G (p.Asn1677Lys) c.4998C>G (p.Asn1666Lys) c.4236C>G (p.Asn1412Lys) c.2697C>G (p.Asn899Lys) n.5359C>G c.5118C>G (p.Asn1706Lys) c.5004C>G (p.Asn1668Lys) c.5134-545C>G (n.5134-545C>G) c.1821C>G (p.Asn607Lys) c.1425C>G (p.Asn475Lys) n.5383C>G | |
| 7 | g.152183139G>T | CA370100499 | KMT2C | c.1819C>A c.5100C>A (p.Asn1700Lys) c.576-545C>A c.2448C>A (p.Asn816Lys) c.722C>A c.*1193C>A (n.*1193C>A) c.4875C>A (p.Asn1625Lys) c.2496C>A (p.Asn832Lys) c.3798C>A (p.Asn1266Lys) n.25C>A n.2811C>A c.*2620C>A (n.*2620C>A) c.5151C>A (p.Asn1717Lys) c.5148C>A (p.Asn1716Lys) c.5103C>A (p.Asn1701Lys) c.5031C>A (p.Asn1677Lys) c.4998C>A (p.Asn1666Lys) c.4236C>A (p.Asn1412Lys) c.2697C>A (p.Asn899Lys) n.5359C>A c.5118C>A (p.Asn1706Lys) c.5004C>A (p.Asn1668Lys) c.5134-545C>A (n.5134-545C>A) c.1821C>A (p.Asn607Lys) c.1425C>A (p.Asn475Lys) n.5383C>A | |
| 7 | g.152183140T>A | CA370100502 | KMT2C | c.1818A>T c.5099A>T (p.Asn1700Ile) c.576-546A>T c.2447A>T (p.Asn816Ile) c.721A>T c.*1192A>T (n.*1192A>T) c.4874A>T (p.Asn1625Ile) c.2495A>T (p.Asn832Ile) c.3797A>T (p.Asn1266Ile) n.24A>T n.2810A>T c.*2619A>T (n.*2619A>T) c.5150A>T (p.Asn1717Ile) c.5147A>T (p.Asn1716Ile) c.5102A>T (p.Asn1701Ile) c.5030A>T (p.Asn1677Ile) c.4997A>T (p.Asn1666Ile) c.4235A>T (p.Asn1412Ile) c.2696A>T (p.Asn899Ile) n.5358A>T c.5117A>T (p.Asn1706Ile) c.5003A>T (p.Asn1668Ile) c.5134-546A>T (n.5134-546A>T) c.1820A>T (p.Asn607Ile) c.1424A>T (p.Asn475Ile) n.5382A>T | |
| 7 | g.152183140T>C | CA370100504 | KMT2C | c.1818A>G c.5099A>G (p.Asn1700Ser) c.576-546A>G c.2447A>G (p.Asn816Ser) c.721A>G c.*1192A>G (n.*1192A>G) c.4874A>G (p.Asn1625Ser) c.2495A>G (p.Asn832Ser) c.3797A>G (p.Asn1266Ser) n.24A>G n.2810A>G c.*2619A>G (n.*2619A>G) c.5150A>G (p.Asn1717Ser) c.5147A>G (p.Asn1716Ser) c.5102A>G (p.Asn1701Ser) c.5030A>G (p.Asn1677Ser) c.4997A>G (p.Asn1666Ser) c.4235A>G (p.Asn1412Ser) c.2696A>G (p.Asn899Ser) n.5358A>G c.5117A>G (p.Asn1706Ser) c.5003A>G (p.Asn1668Ser) c.5134-546A>G (n.5134-546A>G) c.1820A>G (p.Asn607Ser) c.1424A>G (p.Asn475Ser) n.5382A>G | |
| 7 | g.152183140T>G | CA370100506 | KMT2C | c.1818A>C c.5099A>C (p.Asn1700Thr) c.576-546A>C c.2447A>C (p.Asn816Thr) c.721A>C c.*1192A>C (n.*1192A>C) c.4874A>C (p.Asn1625Thr) c.2495A>C (p.Asn832Thr) c.3797A>C (p.Asn1266Thr) n.24A>C n.2810A>C c.*2619A>C (n.*2619A>C) c.5150A>C (p.Asn1717Thr) c.5147A>C (p.Asn1716Thr) c.5102A>C (p.Asn1701Thr) c.5030A>C (p.Asn1677Thr) c.4997A>C (p.Asn1666Thr) c.4235A>C (p.Asn1412Thr) c.2696A>C (p.Asn899Thr) n.5358A>C c.5117A>C (p.Asn1706Thr) c.5003A>C (p.Asn1668Thr) c.5134-546A>C (n.5134-546A>C) c.1820A>C (p.Asn607Thr) c.1424A>C (p.Asn475Thr) n.5382A>C | |
| 7 | g.152183141del | CA2685724268 | KMT2C | c.1818del c.5099del (p.Asn1700ThrfsTer17) c.576-546del c.2447del (p.Asn816ThrfsTer17) c.721del c.*1192del (n.*1192del) c.4874del (p.Asn1625ThrfsTer17) c.2495del (p.Asn832ThrfsTer17) c.3797del (p.Asn1266ThrfsTer17) n.24del n.2810del c.*2619del (n.*2619del) c.5150del (p.Asn1717ThrfsTer17) c.5147del (p.Asn1716ThrfsTer17) c.5102del (p.Asn1701ThrfsTer17) c.5030del (p.Asn1677ThrfsTer17) c.4997del (p.Asn1666ThrfsTer17) c.4235del (p.Asn1412ThrfsTer17) c.2696del (p.Asn899ThrfsTer17) n.5358del c.5117del (p.Asn1706ThrfsTer17) c.5003del (p.Asn1668ThrfsTer17) c.5134-546del (n.5134-546del) c.1820del (p.Asn607ThrfsTer17) c.1424del (p.Asn475ThrfsTer17) n.5382del | gnomAD v4 |
| 7 | g.152183141T>A | CA370100510 | KMT2C | c.1817A>T c.5098A>T (p.Asn1700Tyr) c.576-547A>T c.2446A>T (p.Asn816Tyr) c.720A>T c.*1191A>T (n.*1191A>T) c.4873A>T (p.Asn1625Tyr) c.2494A>T (p.Asn832Tyr) c.3796A>T (p.Asn1266Tyr) n.23A>T n.2809A>T c.*2618A>T (n.*2618A>T) c.5149A>T (p.Asn1717Tyr) c.5146A>T (p.Asn1716Tyr) c.5101A>T (p.Asn1701Tyr) c.5029A>T (p.Asn1677Tyr) c.4996A>T (p.Asn1666Tyr) c.4234A>T (p.Asn1412Tyr) c.2695A>T (p.Asn899Tyr) n.5357A>T c.5116A>T (p.Asn1706Tyr) c.5002A>T (p.Asn1668Tyr) c.5134-547A>T (n.5134-547A>T) c.1819A>T (p.Asn607Tyr) c.1423A>T (p.Asn475Tyr) n.5381A>T | dbSNP |
| 7 | g.152183141T>C | CA370100512 | KMT2C | c.1817A>G c.5098A>G (p.Asn1700Asp) c.576-547A>G c.2446A>G (p.Asn816Asp) c.720A>G c.*1191A>G (n.*1191A>G) c.4873A>G (p.Asn1625Asp) c.2494A>G (p.Asn832Asp) c.3796A>G (p.Asn1266Asp) n.23A>G n.2809A>G c.*2618A>G (n.*2618A>G) c.5149A>G (p.Asn1717Asp) c.5146A>G (p.Asn1716Asp) c.5101A>G (p.Asn1701Asp) c.5029A>G (p.Asn1677Asp) c.4996A>G (p.Asn1666Asp) c.4234A>G (p.Asn1412Asp) c.2695A>G (p.Asn899Asp) n.5357A>G c.5116A>G (p.Asn1706Asp) c.5002A>G (p.Asn1668Asp) c.5134-547A>G (n.5134-547A>G) c.1819A>G (p.Asn607Asp) c.1423A>G (p.Asn475Asp) n.5381A>G | dbSNP |
| 7 | g.152183141T>G | CA370100514 | KMT2C | c.1817A>C c.5098A>C (p.Asn1700His) c.576-547A>C c.2446A>C (p.Asn816His) c.720A>C c.*1191A>C (n.*1191A>C) c.4873A>C (p.Asn1625His) c.2494A>C (p.Asn832His) c.3796A>C (p.Asn1266His) n.23A>C n.2809A>C c.*2618A>C (n.*2618A>C) c.5149A>C (p.Asn1717His) c.5146A>C (p.Asn1716His) c.5101A>C (p.Asn1701His) c.5029A>C (p.Asn1677His) c.4996A>C (p.Asn1666His) c.4234A>C (p.Asn1412His) c.2695A>C (p.Asn899His) n.5357A>C c.5116A>C (p.Asn1706His) c.5002A>C (p.Asn1668His) c.5134-547A>C (n.5134-547A>C) c.1819A>C (p.Asn607His) c.1423A>C (p.Asn475His) n.5381A>C | |
| 7 | g.152183141T= | CA1753025917 | KMT2C | c.1817A= c.5098A= (p.Asn1700=) c.576-547A= c.2446A= (p.Asn816=) c.720A= c.*1191A= (n.*1191A=) c.4873A= (p.Asn1625=) c.2494A= (p.Asn832=) c.3796A= (p.Asn1266=) n.23A= n.2809A= c.*2618A= (n.*2618A=) c.5149A= (p.Asn1717=) c.5146A= (p.Asn1716=) c.5101A= (p.Asn1701=) c.5029A= (p.Asn1677=) c.4996A= (p.Asn1666=) c.4234A= (p.Asn1412=) c.2695A= (p.Asn899=) n.5357A= c.5116A= (p.Asn1706=) c.5002A= (p.Asn1668=) c.5134-547A= (n.5134-547A=) c.1819A= (p.Asn607=) c.1423A= (p.Asn475=) n.5381A= | |
| 7 | g.152183142A>C | CA370100517 | KMT2C | c.1816T>G c.5097T>G (p.Asp1699Glu) c.576-548T>G c.2445T>G (p.Asp815Glu) c.719T>G c.*1190T>G (n.*1190T>G) c.4872T>G (p.Asp1624Glu) c.2493T>G (p.Asp831Glu) c.3795T>G (p.Asp1265Glu) n.22T>G n.2808T>G c.*2617T>G (n.*2617T>G) c.5148T>G (p.Asp1716Glu) c.5145T>G (p.Asp1715Glu) c.5100T>G (p.Asp1700Glu) c.5028T>G (p.Asp1676Glu) c.4995T>G (p.Asp1665Glu) c.4233T>G (p.Asp1411Glu) c.2694T>G (p.Asp898Glu) n.5356T>G c.5115T>G (p.Asp1705Glu) c.5001T>G (p.Asp1667Glu) c.5134-548T>G (n.5134-548T>G) c.1818T>G (p.Asp606Glu) c.1422T>G (p.Asp474Glu) n.5380T>G | |
| 7 | g.152183142A>G | CA458689915 | KMT2C | c.1816T>C c.5097T>C (p.Asp1699=) c.576-548T>C c.2445T>C (p.Asp815=) c.719T>C c.*1190T>C (n.*1190T>C) c.4872T>C (p.Asp1624=) c.2493T>C (p.Asp831=) c.3795T>C (p.Asp1265=) n.22T>C n.2808T>C c.*2617T>C (n.*2617T>C) c.5148T>C (p.Asp1716=) c.5145T>C (p.Asp1715=) c.5100T>C (p.Asp1700=) c.5028T>C (p.Asp1676=) c.4995T>C (p.Asp1665=) c.4233T>C (p.Asp1411=) c.2694T>C (p.Asp898=) n.5356T>C c.5115T>C (p.Asp1705=) c.5001T>C (p.Asp1667=) c.5134-548T>C (n.5134-548T>C) c.1818T>C (p.Asp606=) c.1422T>C (p.Asp474=) n.5380T>C | |
| 7 | g.152183142A>T | CA370100519 | KMT2C | c.1816T>A c.5097T>A (p.Asp1699Glu) c.576-548T>A c.2445T>A (p.Asp815Glu) c.719T>A c.*1190T>A (n.*1190T>A) c.4872T>A (p.Asp1624Glu) c.2493T>A (p.Asp831Glu) c.3795T>A (p.Asp1265Glu) n.22T>A n.2808T>A c.*2617T>A (n.*2617T>A) c.5148T>A (p.Asp1716Glu) c.5145T>A (p.Asp1715Glu) c.5100T>A (p.Asp1700Glu) c.5028T>A (p.Asp1676Glu) c.4995T>A (p.Asp1665Glu) c.4233T>A (p.Asp1411Glu) c.2694T>A (p.Asp898Glu) n.5356T>A c.5115T>A (p.Asp1705Glu) c.5001T>A (p.Asp1667Glu) c.5134-548T>A (n.5134-548T>A) c.1818T>A (p.Asp606Glu) c.1422T>A (p.Asp474Glu) n.5380T>A | |
| 7 | g.152183143T>A | CA370100523 | KMT2C | c.1815A>T c.5096A>T (p.Asp1699Val) c.576-549A>T c.2444A>T (p.Asp815Val) c.718A>T c.*1189A>T (n.*1189A>T) c.4871A>T (p.Asp1624Val) c.2492A>T (p.Asp831Val) c.3794A>T (p.Asp1265Val) n.21A>T n.2807A>T c.*2616A>T (n.*2616A>T) c.5147A>T (p.Asp1716Val) c.5144A>T (p.Asp1715Val) c.5099A>T (p.Asp1700Val) c.5027A>T (p.Asp1676Val) c.4994A>T (p.Asp1665Val) c.4232A>T (p.Asp1411Val) c.2693A>T (p.Asp898Val) n.5355A>T c.5114A>T (p.Asp1705Val) c.5000A>T (p.Asp1667Val) c.5134-549A>T (n.5134-549A>T) c.1817A>T (p.Asp606Val) c.1421A>T (p.Asp474Val) n.5379A>T | gnomAD v4 |
| 7 | g.152183143T>C | CA4580316 | KMT2C | c.1815A>G c.5096A>G (p.Asp1699Gly) c.576-549A>G c.2444A>G (p.Asp815Gly) c.718A>G c.*1189A>G (n.*1189A>G) c.4871A>G (p.Asp1624Gly) c.2492A>G (p.Asp831Gly) c.3794A>G (p.Asp1265Gly) n.21A>G n.2807A>G c.*2616A>G (n.*2616A>G) c.5147A>G (p.Asp1716Gly) c.5144A>G (p.Asp1715Gly) c.5099A>G (p.Asp1700Gly) c.5027A>G (p.Asp1676Gly) c.4994A>G (p.Asp1665Gly) c.4232A>G (p.Asp1411Gly) c.2693A>G (p.Asp898Gly) n.5355A>G c.5114A>G (p.Asp1705Gly) c.5000A>G (p.Asp1667Gly) c.5134-549A>G (n.5134-549A>G) c.1817A>G (p.Asp606Gly) c.1421A>G (p.Asp474Gly) n.5379A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.152183143T>G | CA370100527 | KMT2C | c.1815A>C c.5096A>C (p.Asp1699Ala) c.576-549A>C c.2444A>C (p.Asp815Ala) c.718A>C c.*1189A>C (n.*1189A>C) c.4871A>C (p.Asp1624Ala) c.2492A>C (p.Asp831Ala) c.3794A>C (p.Asp1265Ala) n.21A>C n.2807A>C c.*2616A>C (n.*2616A>C) c.5147A>C (p.Asp1716Ala) c.5144A>C (p.Asp1715Ala) c.5099A>C (p.Asp1700Ala) c.5027A>C (p.Asp1676Ala) c.4994A>C (p.Asp1665Ala) c.4232A>C (p.Asp1411Ala) c.2693A>C (p.Asp898Ala) n.5355A>C c.5114A>C (p.Asp1705Ala) c.5000A>C (p.Asp1667Ala) c.5134-549A>C (n.5134-549A>C) c.1817A>C (p.Asp606Ala) c.1421A>C (p.Asp474Ala) n.5379A>C | |
| 7 | g.152183143T= | CA1753025922 | KMT2C | c.1815A= c.5096A= (p.Asp1699=) c.576-549A= c.2444A= (p.Asp815=) c.718A= c.*1189A= (n.*1189A=) c.4871A= (p.Asp1624=) c.2492A= (p.Asp831=) c.3794A= (p.Asp1265=) n.21A= n.2807A= c.*2616A= (n.*2616A=) c.5147A= (p.Asp1716=) c.5144A= (p.Asp1715=) c.5099A= (p.Asp1700=) c.5027A= (p.Asp1676=) c.4994A= (p.Asp1665=) c.4232A= (p.Asp1411=) c.2693A= (p.Asp898=) n.5355A= c.5114A= (p.Asp1705=) c.5000A= (p.Asp1667=) c.5134-549A= (n.5134-549A=) c.1817A= (p.Asp606=) c.1421A= (p.Asp474=) n.5379A= | |
| 7 | g.152183144C>A | CA370100536 | KMT2C | c.1814G>T c.5095G>T (p.Asp1699Tyr) c.576-550G>T c.2443G>T (p.Asp815Tyr) c.717G>T c.*1188G>T (n.*1188G>T) c.4870G>T (p.Asp1624Tyr) c.2491G>T (p.Asp831Tyr) c.3793G>T (p.Asp1265Tyr) n.20G>T n.2806G>T c.*2615G>T (n.*2615G>T) c.5146G>T (p.Asp1716Tyr) c.5143G>T (p.Asp1715Tyr) c.5098G>T (p.Asp1700Tyr) c.5026G>T (p.Asp1676Tyr) c.4993G>T (p.Asp1665Tyr) c.4231G>T (p.Asp1411Tyr) c.2692G>T (p.Asp898Tyr) n.5354G>T c.5113G>T (p.Asp1705Tyr) c.4999G>T (p.Asp1667Tyr) c.5134-550G>T (n.5134-550G>T) c.1816G>T (p.Asp606Tyr) c.1420G>T (p.Asp474Tyr) n.5378G>T | dbSNP gnomAD v4 |
| 7 | g.152183144C>G | CA370100533 | KMT2C | c.1814G>C c.5095G>C (p.Asp1699His) c.576-550G>C c.2443G>C (p.Asp815His) c.717G>C c.*1188G>C (n.*1188G>C) c.4870G>C (p.Asp1624His) c.2491G>C (p.Asp831His) c.3793G>C (p.Asp1265His) n.20G>C n.2806G>C c.*2615G>C (n.*2615G>C) c.5146G>C (p.Asp1716His) c.5143G>C (p.Asp1715His) c.5098G>C (p.Asp1700His) c.5026G>C (p.Asp1676His) c.4993G>C (p.Asp1665His) c.4231G>C (p.Asp1411His) c.2692G>C (p.Asp898His) n.5354G>C c.5113G>C (p.Asp1705His) c.4999G>C (p.Asp1667His) c.5134-550G>C (n.5134-550G>C) c.1816G>C (p.Asp606His) c.1420G>C (p.Asp474His) n.5378G>C | dbSNP |
| 7 | g.152183144C>T | CA370100531 | KMT2C | c.1814G>A c.5095G>A (p.Asp1699Asn) c.576-550G>A c.2443G>A (p.Asp815Asn) c.717G>A c.*1188G>A (n.*1188G>A) c.4870G>A (p.Asp1624Asn) c.2491G>A (p.Asp831Asn) c.3793G>A (p.Asp1265Asn) n.20G>A n.2806G>A c.*2615G>A (n.*2615G>A) c.5146G>A (p.Asp1716Asn) c.5143G>A (p.Asp1715Asn) c.5098G>A (p.Asp1700Asn) c.5026G>A (p.Asp1676Asn) c.4993G>A (p.Asp1665Asn) c.4231G>A (p.Asp1411Asn) c.2692G>A (p.Asp898Asn) n.5354G>A c.5113G>A (p.Asp1705Asn) c.4999G>A (p.Asp1667Asn) c.5134-550G>A (n.5134-550G>A) c.1816G>A (p.Asp606Asn) c.1420G>A (p.Asp474Asn) n.5378G>A | |
| 7 | g.152183145T>A | CA370100539 | KMT2C | c.1813A>T c.5094A>T (p.Arg1698Ser) c.576-551A>T c.2442A>T (p.Arg814Ser) c.716A>T c.*1187A>T (n.*1187A>T) c.4869A>T (p.Arg1623Ser) c.2490A>T (p.Arg830Ser) c.3792A>T (p.Arg1264Ser) n.19A>T n.2805A>T c.*2614A>T (n.*2614A>T) c.5145A>T (p.Arg1715Ser) c.5142A>T (p.Arg1714Ser) c.5097A>T (p.Arg1699Ser) c.5025A>T (p.Arg1675Ser) c.4992A>T (p.Arg1664Ser) c.4230A>T (p.Arg1410Ser) c.2691A>T (p.Arg897Ser) n.5353A>T c.5112A>T (p.Arg1704Ser) c.4998A>T (p.Arg1666Ser) c.5134-551A>T (n.5134-551A>T) c.1815A>T (p.Arg605Ser) c.1419A>T (p.Arg473Ser) n.5377A>T | dbSNP |
| 7 | g.152183145T>C | CA458689926 | KMT2C | c.1813A>G c.5094A>G (p.Arg1698=) c.576-551A>G c.2442A>G (p.Arg814=) c.716A>G c.*1187A>G (n.*1187A>G) c.4869A>G (p.Arg1623=) c.2490A>G (p.Arg830=) c.3792A>G (p.Arg1264=) n.19A>G n.2805A>G c.*2614A>G (n.*2614A>G) c.5145A>G (p.Arg1715=) c.5142A>G (p.Arg1714=) c.5097A>G (p.Arg1699=) c.5025A>G (p.Arg1675=) c.4992A>G (p.Arg1664=) c.4230A>G (p.Arg1410=) c.2691A>G (p.Arg897=) n.5353A>G c.5112A>G (p.Arg1704=) c.4998A>G (p.Arg1666=) c.5134-551A>G (n.5134-551A>G) c.1815A>G (p.Arg605=) c.1419A>G (p.Arg473=) n.5377A>G | |
| 7 | g.152183145T>G | CA370100541 | KMT2C | c.1813A>C c.5094A>C (p.Arg1698Ser) c.576-551A>C c.2442A>C (p.Arg814Ser) c.716A>C c.*1187A>C (n.*1187A>C) c.4869A>C (p.Arg1623Ser) c.2490A>C (p.Arg830Ser) c.3792A>C (p.Arg1264Ser) n.19A>C n.2805A>C c.*2614A>C (n.*2614A>C) c.5145A>C (p.Arg1715Ser) c.5142A>C (p.Arg1714Ser) c.5097A>C (p.Arg1699Ser) c.5025A>C (p.Arg1675Ser) c.4992A>C (p.Arg1664Ser) c.4230A>C (p.Arg1410Ser) c.2691A>C (p.Arg897Ser) n.5353A>C c.5112A>C (p.Arg1704Ser) c.4998A>C (p.Arg1666Ser) c.5134-551A>C (n.5134-551A>C) c.1815A>C (p.Arg605Ser) c.1419A>C (p.Arg473Ser) n.5377A>C | |
| 7 | g.152183146C>A | CA370100542 | KMT2C | c.1812G>T c.5093G>T (p.Arg1698Ile) c.576-552G>T c.2441G>T (p.Arg814Ile) c.715G>T c.*1186G>T (n.*1186G>T) c.4868G>T (p.Arg1623Ile) c.2489G>T (p.Arg830Ile) c.3791G>T (p.Arg1264Ile) n.18G>T n.2804G>T c.*2613G>T (n.*2613G>T) c.5144G>T (p.Arg1715Ile) c.5141G>T (p.Arg1714Ile) c.5096G>T (p.Arg1699Ile) c.5024G>T (p.Arg1675Ile) c.4991G>T (p.Arg1664Ile) c.4229G>T (p.Arg1410Ile) c.2690G>T (p.Arg897Ile) n.5352G>T c.5111G>T (p.Arg1704Ile) c.4997G>T (p.Arg1666Ile) c.5134-552G>T (n.5134-552G>T) c.1814G>T (p.Arg605Ile) c.1418G>T (p.Arg473Ile) n.5376G>T | gnomAD v4 |
| 7 | g.152183146C>G | CA370100544 | KMT2C | c.1812G>C c.5093G>C (p.Arg1698Thr) c.576-552G>C c.2441G>C (p.Arg814Thr) c.715G>C c.*1186G>C (n.*1186G>C) c.4868G>C (p.Arg1623Thr) c.2489G>C (p.Arg830Thr) c.3791G>C (p.Arg1264Thr) n.18G>C n.2804G>C c.*2613G>C (n.*2613G>C) c.5144G>C (p.Arg1715Thr) c.5141G>C (p.Arg1714Thr) c.5096G>C (p.Arg1699Thr) c.5024G>C (p.Arg1675Thr) c.4991G>C (p.Arg1664Thr) c.4229G>C (p.Arg1410Thr) c.2690G>C (p.Arg897Thr) n.5352G>C c.5111G>C (p.Arg1704Thr) c.4997G>C (p.Arg1666Thr) c.5134-552G>C (n.5134-552G>C) c.1814G>C (p.Arg605Thr) c.1418G>C (p.Arg473Thr) n.5376G>C | dbSNP |
| 7 | g.152183146C>T | CA370100543 | KMT2C | c.1812G>A c.5093G>A (p.Arg1698Lys) c.576-552G>A c.2441G>A (p.Arg814Lys) c.715G>A c.*1186G>A (n.*1186G>A) c.4868G>A (p.Arg1623Lys) c.2489G>A (p.Arg830Lys) c.3791G>A (p.Arg1264Lys) n.18G>A n.2804G>A c.*2613G>A (n.*2613G>A) c.5144G>A (p.Arg1715Lys) c.5141G>A (p.Arg1714Lys) c.5096G>A (p.Arg1699Lys) c.5024G>A (p.Arg1675Lys) c.4991G>A (p.Arg1664Lys) c.4229G>A (p.Arg1410Lys) c.2690G>A (p.Arg897Lys) n.5352G>A c.5111G>A (p.Arg1704Lys) c.4997G>A (p.Arg1666Lys) c.5134-552G>A (n.5134-552G>A) c.1814G>A (p.Arg605Lys) c.1418G>A (p.Arg473Lys) n.5376G>A | dbSNP |
| 7 | g.152183147T>A | CA370100545 | KMT2C | c.1811A>T c.5092A>T (p.Arg1698Ter) c.576-553A>T c.2440A>T (p.Arg814Ter) c.714A>T c.*1185A>T (n.*1185A>T) c.4867A>T (p.Arg1623Ter) c.2488A>T (p.Arg830Ter) c.3790A>T (p.Arg1264Ter) n.17A>T n.2803A>T c.*2612A>T (n.*2612A>T) c.5143A>T (p.Arg1715Ter) c.5140A>T (p.Arg1714Ter) c.5095A>T (p.Arg1699Ter) c.5023A>T (p.Arg1675Ter) c.4990A>T (p.Arg1664Ter) c.4228A>T (p.Arg1410Ter) c.2689A>T (p.Arg897Ter) n.5351A>T c.5110A>T (p.Arg1704Ter) c.4996A>T (p.Arg1666Ter) c.5134-553A>T (n.5134-553A>T) c.1813A>T (p.Arg605Ter) c.1417A>T (p.Arg473Ter) n.5375A>T | |
| 7 | g.152183147T>C | CA370100546 | KMT2C | c.1811A>G c.5092A>G (p.Arg1698Gly) c.576-553A>G c.2440A>G (p.Arg814Gly) c.714A>G c.*1185A>G (n.*1185A>G) c.4867A>G (p.Arg1623Gly) c.2488A>G (p.Arg830Gly) c.3790A>G (p.Arg1264Gly) n.17A>G n.2803A>G c.*2612A>G (n.*2612A>G) c.5143A>G (p.Arg1715Gly) c.5140A>G (p.Arg1714Gly) c.5095A>G (p.Arg1699Gly) c.5023A>G (p.Arg1675Gly) c.4990A>G (p.Arg1664Gly) c.4228A>G (p.Arg1410Gly) c.2689A>G (p.Arg897Gly) n.5351A>G c.5110A>G (p.Arg1704Gly) c.4996A>G (p.Arg1666Gly) c.5134-553A>G (n.5134-553A>G) c.1813A>G (p.Arg605Gly) c.1417A>G (p.Arg473Gly) n.5375A>G | gnomAD v4 |
| 7 | g.152183147T>G | CA458689933 | KMT2C | c.1811A>C c.5092A>C (p.Arg1698=) c.576-553A>C c.2440A>C (p.Arg814=) c.714A>C c.*1185A>C (n.*1185A>C) c.4867A>C (p.Arg1623=) c.2488A>C (p.Arg830=) c.3790A>C (p.Arg1264=) n.17A>C n.2803A>C c.*2612A>C (n.*2612A>C) c.5143A>C (p.Arg1715=) c.5140A>C (p.Arg1714=) c.5095A>C (p.Arg1699=) c.5023A>C (p.Arg1675=) c.4990A>C (p.Arg1664=) c.4228A>C (p.Arg1410=) c.2689A>C (p.Arg897=) n.5351A>C c.5110A>C (p.Arg1704=) c.4996A>C (p.Arg1666=) c.5134-553A>C (n.5134-553A>C) c.1813A>C (p.Arg605=) c.1417A>C (p.Arg473=) n.5375A>C | |
| 7 | g.152183148G>A | CA458689936 | KMT2C | c.1810C>T c.5091C>T (p.Ala1697=) c.576-554C>T c.2439C>T (p.Ala813=) c.713C>T c.*1184C>T (n.*1184C>T) c.4866C>T (p.Ala1622=) c.2487C>T (p.Ala829=) c.3789C>T (p.Ala1263=) n.16C>T n.2802C>T c.*2611C>T (n.*2611C>T) c.5142C>T (p.Ala1714=) c.5139C>T (p.Ala1713=) c.5094C>T (p.Ala1698=) c.5022C>T (p.Ala1674=) c.4989C>T (p.Ala1663=) c.4227C>T (p.Ala1409=) c.2688C>T (p.Ala896=) n.5350C>T c.5109C>T (p.Ala1703=) c.4995C>T (p.Ala1665=) c.5134-554C>T (n.5134-554C>T) c.1812C>T (p.Ala604=) c.1416C>T (p.Ala472=) n.5374C>T | dbSNP |
| 7 | g.152183148G>C | CA458689938 | KMT2C | c.1810C>G c.5091C>G (p.Ala1697=) c.576-554C>G c.2439C>G (p.Ala813=) c.713C>G c.*1184C>G (n.*1184C>G) c.4866C>G (p.Ala1622=) c.2487C>G (p.Ala829=) c.3789C>G (p.Ala1263=) n.16C>G n.2802C>G c.*2611C>G (n.*2611C>G) c.5142C>G (p.Ala1714=) c.5139C>G (p.Ala1713=) c.5094C>G (p.Ala1698=) c.5022C>G (p.Ala1674=) c.4989C>G (p.Ala1663=) c.4227C>G (p.Ala1409=) c.2688C>G (p.Ala896=) n.5350C>G c.5109C>G (p.Ala1703=) c.4995C>G (p.Ala1665=) c.5134-554C>G (n.5134-554C>G) c.1812C>G (p.Ala604=) c.1416C>G (p.Ala472=) n.5374C>G | dbSNP |
| 7 | g.152183148G>T | CA458689939 | KMT2C | c.1810C>A c.5091C>A (p.Ala1697=) c.576-554C>A c.2439C>A (p.Ala813=) c.713C>A c.*1184C>A (n.*1184C>A) c.4866C>A (p.Ala1622=) c.2487C>A (p.Ala829=) c.3789C>A (p.Ala1263=) n.16C>A n.2802C>A c.*2611C>A (n.*2611C>A) c.5142C>A (p.Ala1714=) c.5139C>A (p.Ala1713=) c.5094C>A (p.Ala1698=) c.5022C>A (p.Ala1674=) c.4989C>A (p.Ala1663=) c.4227C>A (p.Ala1409=) c.2688C>A (p.Ala896=) n.5350C>A c.5109C>A (p.Ala1703=) c.4995C>A (p.Ala1665=) c.5134-554C>A (n.5134-554C>A) c.1812C>A (p.Ala604=) c.1416C>A (p.Ala472=) n.5374C>A | dbSNP gnomAD v4 |
| 7 | g.152183149G>A | CA370100547 | KMT2C | c.1809C>T c.5090C>T (p.Ala1697Val) c.576-555C>T c.2438C>T (p.Ala813Val) c.712C>T c.*1183C>T (n.*1183C>T) c.4865C>T (p.Ala1622Val) c.2486C>T (p.Ala829Val) c.3788C>T (p.Ala1263Val) n.15C>T n.2801C>T c.*2610C>T (n.*2610C>T) c.5141C>T (p.Ala1714Val) c.5138C>T (p.Ala1713Val) c.5093C>T (p.Ala1698Val) c.5021C>T (p.Ala1674Val) c.4988C>T (p.Ala1663Val) c.4226C>T (p.Ala1409Val) c.2687C>T (p.Ala896Val) n.5349C>T c.5108C>T (p.Ala1703Val) c.4994C>T (p.Ala1665Val) c.5134-555C>T (n.5134-555C>T) c.1811C>T (p.Ala604Val) c.1415C>T (p.Ala472Val) n.5373C>T | dbSNP gnomAD v4 |
| 7 | g.152183149G>C | CA370100548 | KMT2C | c.1809C>G c.5090C>G (p.Ala1697Gly) c.576-555C>G c.2438C>G (p.Ala813Gly) c.712C>G c.*1183C>G (n.*1183C>G) c.4865C>G (p.Ala1622Gly) c.2486C>G (p.Ala829Gly) c.3788C>G (p.Ala1263Gly) n.15C>G n.2801C>G c.*2610C>G (n.*2610C>G) c.5141C>G (p.Ala1714Gly) c.5138C>G (p.Ala1713Gly) c.5093C>G (p.Ala1698Gly) c.5021C>G (p.Ala1674Gly) c.4988C>G (p.Ala1663Gly) c.4226C>G (p.Ala1409Gly) c.2687C>G (p.Ala896Gly) n.5349C>G c.5108C>G (p.Ala1703Gly) c.4994C>G (p.Ala1665Gly) c.5134-555C>G (n.5134-555C>G) c.1811C>G (p.Ala604Gly) c.1415C>G (p.Ala472Gly) n.5373C>G | dbSNP |
| 7 | g.152183149G>T | CA370100549 | KMT2C | c.1809C>A c.5090C>A (p.Ala1697Asp) c.576-555C>A c.2438C>A (p.Ala813Asp) c.712C>A c.*1183C>A (n.*1183C>A) c.4865C>A (p.Ala1622Asp) c.2486C>A (p.Ala829Asp) c.3788C>A (p.Ala1263Asp) n.15C>A n.2801C>A c.*2610C>A (n.*2610C>A) c.5141C>A (p.Ala1714Asp) c.5138C>A (p.Ala1713Asp) c.5093C>A (p.Ala1698Asp) c.5021C>A (p.Ala1674Asp) c.4988C>A (p.Ala1663Asp) c.4226C>A (p.Ala1409Asp) c.2687C>A (p.Ala896Asp) n.5349C>A c.5108C>A (p.Ala1703Asp) c.4994C>A (p.Ala1665Asp) c.5134-555C>A (n.5134-555C>A) c.1811C>A (p.Ala604Asp) c.1415C>A (p.Ala472Asp) n.5373C>A | gnomAD v4 |
| 7 | g.152183150C>A | CA370100550 | KMT2C | c.1808G>T c.5089G>T (p.Ala1697Ser) c.576-556G>T c.2437G>T (p.Ala813Ser) c.711G>T c.*1182G>T (n.*1182G>T) c.4864G>T (p.Ala1622Ser) c.2485G>T (p.Ala829Ser) c.3787G>T (p.Ala1263Ser) n.14G>T n.2800G>T c.*2609G>T (n.*2609G>T) c.5140G>T (p.Ala1714Ser) c.5137G>T (p.Ala1713Ser) c.5092G>T (p.Ala1698Ser) c.5020G>T (p.Ala1674Ser) c.4987G>T (p.Ala1663Ser) c.4225G>T (p.Ala1409Ser) c.2686G>T (p.Ala896Ser) n.5348G>T c.5107G>T (p.Ala1703Ser) c.4993G>T (p.Ala1665Ser) c.5134-556G>T (n.5134-556G>T) c.1810G>T (p.Ala604Ser) c.1414G>T (p.Ala472Ser) n.5372G>T | gnomAD v4 |
| 7 | g.152183150C= | CA1753025927 | KMT2C | c.1808G= c.5089G= (p.Ala1697=) c.576-556G= c.2437G= (p.Ala813=) c.711G= c.*1182G= (n.*1182G=) c.4864G= (p.Ala1622=) c.2485G= (p.Ala829=) c.3787G= (p.Ala1263=) n.14G= n.2800G= c.*2609G= (n.*2609G=) c.5140G= (p.Ala1714=) c.5137G= (p.Ala1713=) c.5092G= (p.Ala1698=) c.5020G= (p.Ala1674=) c.4987G= (p.Ala1663=) c.4225G= (p.Ala1409=) c.2686G= (p.Ala896=) n.5348G= c.5107G= (p.Ala1703=) c.4993G= (p.Ala1665=) c.5134-556G= (n.5134-556G=) c.1810G= (p.Ala604=) c.1414G= (p.Ala472=) n.5372G= | |
| 7 | g.152183150C>G | CA370100551 | KMT2C | c.1808G>C c.5089G>C (p.Ala1697Pro) c.576-556G>C c.2437G>C (p.Ala813Pro) c.711G>C c.*1182G>C (n.*1182G>C) c.4864G>C (p.Ala1622Pro) c.2485G>C (p.Ala829Pro) c.3787G>C (p.Ala1263Pro) n.14G>C n.2800G>C c.*2609G>C (n.*2609G>C) c.5140G>C (p.Ala1714Pro) c.5137G>C (p.Ala1713Pro) c.5092G>C (p.Ala1698Pro) c.5020G>C (p.Ala1674Pro) c.4987G>C (p.Ala1663Pro) c.4225G>C (p.Ala1409Pro) c.2686G>C (p.Ala896Pro) n.5348G>C c.5107G>C (p.Ala1703Pro) c.4993G>C (p.Ala1665Pro) c.5134-556G>C (n.5134-556G>C) c.1810G>C (p.Ala604Pro) c.1414G>C (p.Ala472Pro) n.5372G>C | |
| 7 | g.152183150C>T | CA4580317 | KMT2C | c.1808G>A c.5089G>A (p.Ala1697Thr) c.576-556G>A c.2437G>A (p.Ala813Thr) c.711G>A c.*1182G>A (n.*1182G>A) c.4864G>A (p.Ala1622Thr) c.2485G>A (p.Ala829Thr) c.3787G>A (p.Ala1263Thr) n.14G>A n.2800G>A c.*2609G>A (n.*2609G>A) c.5140G>A (p.Ala1714Thr) c.5137G>A (p.Ala1713Thr) c.5092G>A (p.Ala1698Thr) c.5020G>A (p.Ala1674Thr) c.4987G>A (p.Ala1663Thr) c.4225G>A (p.Ala1409Thr) c.2686G>A (p.Ala896Thr) n.5348G>A c.5107G>A (p.Ala1703Thr) c.4993G>A (p.Ala1665Thr) c.5134-556G>A (n.5134-556G>A) c.1810G>A (p.Ala604Thr) c.1414G>A (p.Ala472Thr) n.5372G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.152183151T>A | CA370100552 | KMT2C | c.1807A>T c.5088A>T (p.Lys1696Asn) c.576-557A>T c.2436A>T (p.Lys812Asn) c.710A>T c.*1181A>T (n.*1181A>T) c.4863A>T (p.Lys1621Asn) c.2484A>T (p.Lys828Asn) c.3786A>T (p.Lys1262Asn) n.13A>T n.2799A>T c.*2608A>T (n.*2608A>T) c.5139A>T (p.Lys1713Asn) c.5136A>T (p.Lys1712Asn) c.5091A>T (p.Lys1697Asn) c.5019A>T (p.Lys1673Asn) c.4986A>T (p.Lys1662Asn) c.4224A>T (p.Lys1408Asn) c.2685A>T (p.Lys895Asn) n.5347A>T c.5106A>T (p.Lys1702Asn) c.4992A>T (p.Lys1664Asn) c.5134-557A>T (n.5134-557A>T) c.1809A>T (p.Lys603Asn) c.1413A>T (p.Lys471Asn) n.5371A>T | |
| 7 | g.152183151T>C | CA458689950 | KMT2C | c.1807A>G c.5088A>G (p.Lys1696=) c.576-557A>G c.2436A>G (p.Lys812=) c.710A>G c.*1181A>G (n.*1181A>G) c.4863A>G (p.Lys1621=) c.2484A>G (p.Lys828=) c.3786A>G (p.Lys1262=) n.13A>G n.2799A>G c.*2608A>G (n.*2608A>G) c.5139A>G (p.Lys1713=) c.5136A>G (p.Lys1712=) c.5091A>G (p.Lys1697=) c.5019A>G (p.Lys1673=) c.4986A>G (p.Lys1662=) c.4224A>G (p.Lys1408=) c.2685A>G (p.Lys895=) n.5347A>G c.5106A>G (p.Lys1702=) c.4992A>G (p.Lys1664=) c.5134-557A>G (n.5134-557A>G) c.1809A>G (p.Lys603=) c.1413A>G (p.Lys471=) n.5371A>G | gnomAD v4 |
| 7 | g.152183151T>G | CA370100553 | KMT2C | c.1807A>C c.5088A>C (p.Lys1696Asn) c.576-557A>C c.2436A>C (p.Lys812Asn) c.710A>C c.*1181A>C (n.*1181A>C) c.4863A>C (p.Lys1621Asn) c.2484A>C (p.Lys828Asn) c.3786A>C (p.Lys1262Asn) n.13A>C n.2799A>C c.*2608A>C (n.*2608A>C) c.5139A>C (p.Lys1713Asn) c.5136A>C (p.Lys1712Asn) c.5091A>C (p.Lys1697Asn) c.5019A>C (p.Lys1673Asn) c.4986A>C (p.Lys1662Asn) c.4224A>C (p.Lys1408Asn) c.2685A>C (p.Lys895Asn) n.5347A>C c.5106A>C (p.Lys1702Asn) c.4992A>C (p.Lys1664Asn) c.5134-557A>C (n.5134-557A>C) c.1809A>C (p.Lys603Asn) c.1413A>C (p.Lys471Asn) n.5371A>C |