Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118503115C>ACA382804758KMT2Ac.7322C>A (p.Ser2441Tyr)
c.7313C>A (p.Ser2438Tyr)
c.1262C>A (p.Ser421Tyr)
c.1520C>A (p.Ser507Tyr)
c.7295C>A (p.Ser2432Tyr)
c.7214C>A (p.Ser2405Tyr)
n.6565C>A
c.7223C>A (p.Ser2408Tyr)
c.7100C>A (p.Ser2367Tyr)
n.1350C>A
c.4706C>A (p.Ser1569Tyr)
c.7319C>A (p.Ser2440Tyr)
c.5129C>A (p.Ser1710Tyr)
c.4805C>A (p.Ser1602Tyr)
 dbSNP
11g.118503115C=CA2003527407KMT2Ac.7322C= (p.Ser2441=)
c.7313C= (p.Ser2438=)
c.1262C= (p.Ser421=)
c.1520C= (p.Ser507=)
c.7295C= (p.Ser2432=)
c.7214C= (p.Ser2405=)
n.6565C=
c.7223C= (p.Ser2408=)
c.7100C= (p.Ser2367=)
n.1350C=
c.4706C= (p.Ser1569=)
c.7319C= (p.Ser2440=)
c.5129C= (p.Ser1710=)
c.4805C= (p.Ser1602=)
11g.118503115C>GCA382804759KMT2Ac.7322C>G (p.Ser2441Cys)
c.7313C>G (p.Ser2438Cys)
c.1262C>G (p.Ser421Cys)
c.1520C>G (p.Ser507Cys)
c.7295C>G (p.Ser2432Cys)
c.7214C>G (p.Ser2405Cys)
n.6565C>G
c.7223C>G (p.Ser2408Cys)
c.7100C>G (p.Ser2367Cys)
n.1350C>G
c.4706C>G (p.Ser1569Cys)
c.7319C>G (p.Ser2440Cys)
c.5129C>G (p.Ser1710Cys)
c.4805C>G (p.Ser1602Cys)
 dbSNP gnomAD v4
11g.118503115C>TCA382804760KMT2Ac.7322C>T (p.Ser2441Phe)
c.7313C>T (p.Ser2438Phe)
c.1262C>T (p.Ser421Phe)
c.1520C>T (p.Ser507Phe)
c.7295C>T (p.Ser2432Phe)
c.7214C>T (p.Ser2405Phe)
n.6565C>T
c.7223C>T (p.Ser2408Phe)
c.7100C>T (p.Ser2367Phe)
n.1350C>T
c.4706C>T (p.Ser1569Phe)
c.7319C>T (p.Ser2440Phe)
c.5129C>T (p.Ser1710Phe)
c.4805C>T (p.Ser1602Phe)
 dbSNP
11g.118503116T>ACA477359925KMT2Ac.7323T>A (p.Ser2441=)
c.7314T>A (p.Ser2438=)
c.1263T>A (p.Ser421=)
c.1521T>A (p.Ser507=)
c.7296T>A (p.Ser2432=)
c.7215T>A (p.Ser2405=)
n.6566T>A
c.7224T>A (p.Ser2408=)
c.7101T>A (p.Ser2367=)
n.1351T>A
c.4707T>A (p.Ser1569=)
c.7320T>A (p.Ser2440=)
c.5130T>A (p.Ser1710=)
c.4806T>A (p.Ser1602=)
11g.118503116T>CCA477359927KMT2Ac.7323T>C (p.Ser2441=)
c.7314T>C (p.Ser2438=)
c.1263T>C (p.Ser421=)
c.1521T>C (p.Ser507=)
c.7296T>C (p.Ser2432=)
c.7215T>C (p.Ser2405=)
n.6566T>C
c.7224T>C (p.Ser2408=)
c.7101T>C (p.Ser2367=)
n.1351T>C
c.4707T>C (p.Ser1569=)
c.7320T>C (p.Ser2440=)
c.5130T>C (p.Ser1710=)
c.4806T>C (p.Ser1602=)
 ClinVar dbSNP
11g.118503116T>GCA477359940KMT2Ac.7323T>G (p.Ser2441=)
c.7314T>G (p.Ser2438=)
c.1263T>G (p.Ser421=)
c.1521T>G (p.Ser507=)
c.7296T>G (p.Ser2432=)
c.7215T>G (p.Ser2405=)
n.6566T>G
c.7224T>G (p.Ser2408=)
c.7101T>G (p.Ser2367=)
n.1351T>G
c.4707T>G (p.Ser1569=)
c.7320T>G (p.Ser2440=)
c.5130T>G (p.Ser1710=)
c.4806T>G (p.Ser1602=)
11g.118503116T=CA2003527410KMT2Ac.7323T= (p.Ser2441=)
c.7314T= (p.Ser2438=)
c.1263T= (p.Ser421=)
c.1521T= (p.Ser507=)
c.7296T= (p.Ser2432=)
c.7215T= (p.Ser2405=)
n.6566T=
c.7224T= (p.Ser2408=)
c.7101T= (p.Ser2367=)
n.1351T=
c.4707T= (p.Ser1569=)
c.7320T= (p.Ser2440=)
c.5130T= (p.Ser1710=)
c.4806T= (p.Ser1602=)
11g.118503117G>ACA382804765KMT2Ac.7324G>A (p.Gly2442Arg)
c.7315G>A (p.Gly2439Arg)
c.1264G>A (p.Gly422Arg)
c.1522G>A (p.Gly508Arg)
c.7297G>A (p.Gly2433Arg)
c.7216G>A (p.Gly2406Arg)
n.6567G>A
c.7225G>A (p.Gly2409Arg)
c.7102G>A (p.Gly2368Arg)
n.1352G>A
c.4708G>A (p.Gly1570Arg)
c.7321G>A (p.Gly2441Arg)
c.5131G>A (p.Gly1711Arg)
c.4807G>A (p.Gly1603Arg)
 dbSNP
11g.118503117G>CCA382804762KMT2Ac.7324G>C (p.Gly2442Arg)
c.7315G>C (p.Gly2439Arg)
c.1264G>C (p.Gly422Arg)
c.1522G>C (p.Gly508Arg)
c.7297G>C (p.Gly2433Arg)
c.7216G>C (p.Gly2406Arg)
n.6567G>C
c.7225G>C (p.Gly2409Arg)
c.7102G>C (p.Gly2368Arg)
n.1352G>C
c.4708G>C (p.Gly1570Arg)
c.7321G>C (p.Gly2441Arg)
c.5131G>C (p.Gly1711Arg)
c.4807G>C (p.Gly1603Arg)
11g.118503117G>TCA382804764KMT2Ac.7324G>T (p.Gly2442Ter)
c.7315G>T (p.Gly2439Ter)
c.1264G>T (p.Gly422Ter)
c.1522G>T (p.Gly508Ter)
c.7297G>T (p.Gly2433Ter)
c.7216G>T (p.Gly2406Ter)
n.6567G>T
c.7225G>T (p.Gly2409Ter)
c.7102G>T (p.Gly2368Ter)
n.1352G>T
c.4708G>T (p.Gly1570Ter)
c.7321G>T (p.Gly2441Ter)
c.5131G>T (p.Gly1711Ter)
c.4807G>T (p.Gly1603Ter)
11g.118503117_118503129delinsGGAATGAGCAACACA2003527412KMT2Ac.7324_7336delinsGGAATGAGCAACA (p.Gly2442=)
c.7315_7327delinsGGAATGAGCAACA (p.Gly2439=)
c.1264_1276delinsGGAATGAGCAACA (p.Gly422=)
c.1522_1534delinsGGAATGAGCAACA (p.Gly508=)
c.7297_7309delinsGGAATGAGCAACA (p.Gly2433=)
c.7216_7228delinsGGAATGAGCAACA (p.Gly2406=)
n.6567_6579delinsGGAATGAGCAACA
c.7225_7237delinsGGAATGAGCAACA (p.Gly2409=)
c.7102_7114delinsGGAATGAGCAACA (p.Gly2368=)
n.1352_1364delinsGGAATGAGCAACA
c.4708_4720delinsGGAATGAGCAACA (p.Gly1570=)
c.7321_7333delinsGGAATGAGCAACA (p.Gly2441=)
c.5131_5143delinsGGAATGAGCAACA (p.Gly1711=)
c.4807_4819delinsGGAATGAGCAACA (p.Gly1603=)
11g.118503118G>ACA382804767KMT2Ac.7325G>A (p.Gly2442Glu)
c.7316G>A (p.Gly2439Glu)
c.1265G>A (p.Gly422Glu)
c.1523G>A (p.Gly508Glu)
c.7298G>A (p.Gly2433Glu)
c.7217G>A (p.Gly2406Glu)
n.6568G>A
c.7226G>A (p.Gly2409Glu)
c.7103G>A (p.Gly2368Glu)
n.1353G>A
c.4709G>A (p.Gly1570Glu)
c.7322G>A (p.Gly2441Glu)
c.5132G>A (p.Gly1711Glu)
c.4808G>A (p.Gly1603Glu)
 dbSNP
11g.118503118G>CCA382804768KMT2Ac.7325G>C (p.Gly2442Ala)
c.7316G>C (p.Gly2439Ala)
c.1265G>C (p.Gly422Ala)
c.1523G>C (p.Gly508Ala)
c.7298G>C (p.Gly2433Ala)
c.7217G>C (p.Gly2406Ala)
n.6568G>C
c.7226G>C (p.Gly2409Ala)
c.7103G>C (p.Gly2368Ala)
n.1353G>C
c.4709G>C (p.Gly1570Ala)
c.7322G>C (p.Gly2441Ala)
c.5132G>C (p.Gly1711Ala)
c.4808G>C (p.Gly1603Ala)
 dbSNP
11g.118503118G>TCA382804770KMT2Ac.7325G>T (p.Gly2442Val)
c.7316G>T (p.Gly2439Val)
c.1265G>T (p.Gly422Val)
c.1523G>T (p.Gly508Val)
c.7298G>T (p.Gly2433Val)
c.7217G>T (p.Gly2406Val)
n.6568G>T
c.7226G>T (p.Gly2409Val)
c.7103G>T (p.Gly2368Val)
n.1353G>T
c.4709G>T (p.Gly1570Val)
c.7322G>T (p.Gly2441Val)
c.5132G>T (p.Gly1711Val)
c.4808G>T (p.Gly1603Val)
11g.118503118_118503129delinsTTATGCA915947782KMT2Ac.7325_7336delinsTTATG (p.Gly2442ValfsTer?)
c.7316_7327delinsTTATG (p.Gly2439ValfsTer?)
c.1265_1276delinsTTATG (p.Gly422ValfsTer?)
c.1523_1534delinsTTATG (p.Gly508ValfsTer?)
c.7298_7309delinsTTATG (p.Gly2433ValfsTer?)
c.7217_7228delinsTTATG (p.Gly2406ValfsTer?)
n.6568_6579delinsTTATG
c.7226_7237delinsTTATG (p.Gly2409ValfsTer?)
c.7103_7114delinsTTATG (p.Gly2368ValfsTer?)
n.1353_1364delinsTTATG
c.4709_4720delinsTTATG (p.Gly1570ValfsTer?)
c.7322_7333delinsTTATG (p.Gly2441ValfsTer?)
c.5132_5143delinsTTATG (p.Gly1711ValfsTer?)
c.4808_4819delinsTTATG (p.Gly1603ValfsTer?)
 ClinVar dbSNP
11g.118503119A>CCA477359948KMT2Ac.7326A>C (p.Gly2442=)
c.7317A>C (p.Gly2439=)
c.1266A>C (p.Gly422=)
c.1524A>C (p.Gly508=)
c.7299A>C (p.Gly2433=)
c.7218A>C (p.Gly2406=)
n.6569A>C
c.7227A>C (p.Gly2409=)
c.7104A>C (p.Gly2368=)
n.1354A>C
c.4710A>C (p.Gly1570=)
c.7323A>C (p.Gly2441=)
c.5133A>C (p.Gly1711=)
c.4809A>C (p.Gly1603=)
11g.118503119A>GCA477359950KMT2Ac.7326A>G (p.Gly2442=)
c.7317A>G (p.Gly2439=)
c.1266A>G (p.Gly422=)
c.1524A>G (p.Gly508=)
c.7299A>G (p.Gly2433=)
c.7218A>G (p.Gly2406=)
n.6569A>G
c.7227A>G (p.Gly2409=)
c.7104A>G (p.Gly2368=)
n.1354A>G
c.4710A>G (p.Gly1570=)
c.7323A>G (p.Gly2441=)
c.5133A>G (p.Gly1711=)
c.4809A>G (p.Gly1603=)
11g.118503119A>TCA477359955KMT2Ac.7326A>T (p.Gly2442=)
c.7317A>T (p.Gly2439=)
c.1266A>T (p.Gly422=)
c.1524A>T (p.Gly508=)
c.7299A>T (p.Gly2433=)
c.7218A>T (p.Gly2406=)
n.6569A>T
c.7227A>T (p.Gly2409=)
c.7104A>T (p.Gly2368=)
n.1354A>T
c.4710A>T (p.Gly1570=)
c.7323A>T (p.Gly2441=)
c.5133A>T (p.Gly1711=)
c.4809A>T (p.Gly1603=)
11g.118503120A=CA2003527427KMT2Ac.7327A= (p.Met2443=)
c.7318A= (p.Met2440=)
c.1267A= (p.Met423=)
c.1525A= (p.Met509=)
c.7300A= (p.Met2434=)
c.7219A= (p.Met2407=)
n.6570A=
c.7228A= (p.Met2410=)
c.7105A= (p.Met2369=)
n.1355A=
c.4711A= (p.Met1571=)
c.7324A= (p.Met2442=)
c.5134A= (p.Met1712=)
c.4810A= (p.Met1604=)
11g.118503120A>CCA382804772KMT2Ac.7327A>C (p.Met2443Leu)
c.7318A>C (p.Met2440Leu)
c.1267A>C (p.Met423Leu)
c.1525A>C (p.Met509Leu)
c.7300A>C (p.Met2434Leu)
c.7219A>C (p.Met2407Leu)
n.6570A>C
c.7228A>C (p.Met2410Leu)
c.7105A>C (p.Met2369Leu)
n.1355A>C
c.4711A>C (p.Met1571Leu)
c.7324A>C (p.Met2442Leu)
c.5134A>C (p.Met1712Leu)
c.4810A>C (p.Met1604Leu)
11g.118503120A>GCA6304376KMT2Ac.7327A>G (p.Met2443Val)
c.7318A>G (p.Met2440Val)
c.1267A>G (p.Met423Val)
c.1525A>G (p.Met509Val)
c.7300A>G (p.Met2434Val)
c.7219A>G (p.Met2407Val)
n.6570A>G
c.7228A>G (p.Met2410Val)
c.7105A>G (p.Met2369Val)
n.1355A>G
c.4711A>G (p.Met1571Val)
c.7324A>G (p.Met2442Val)
c.5134A>G (p.Met1712Val)
c.4810A>G (p.Met1604Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503120A>TCA382804774KMT2Ac.7327A>T (p.Met2443Leu)
c.7318A>T (p.Met2440Leu)
c.1267A>T (p.Met423Leu)
c.1525A>T (p.Met509Leu)
c.7300A>T (p.Met2434Leu)
c.7219A>T (p.Met2407Leu)
n.6570A>T
c.7228A>T (p.Met2410Leu)
c.7105A>T (p.Met2369Leu)
n.1355A>T
c.4711A>T (p.Met1571Leu)
c.7324A>T (p.Met2442Leu)
c.5134A>T (p.Met1712Leu)
c.4810A>T (p.Met1604Leu)
11g.118503121T>ACA382804776KMT2Ac.7328T>A (p.Met2443Lys)
c.7319T>A (p.Met2440Lys)
c.1268T>A (p.Met423Lys)
c.1526T>A (p.Met509Lys)
c.7301T>A (p.Met2434Lys)
c.7220T>A (p.Met2407Lys)
n.6571T>A
c.7229T>A (p.Met2410Lys)
c.7106T>A (p.Met2369Lys)
n.1356T>A
c.4712T>A (p.Met1571Lys)
c.7325T>A (p.Met2442Lys)
c.5135T>A (p.Met1712Lys)
c.4811T>A (p.Met1604Lys)
 dbSNP
11g.118503121T>CCA382804777KMT2Ac.7328T>C (p.Met2443Thr)
c.7319T>C (p.Met2440Thr)
c.1268T>C (p.Met423Thr)
c.1526T>C (p.Met509Thr)
c.7301T>C (p.Met2434Thr)
c.7220T>C (p.Met2407Thr)
n.6571T>C
c.7229T>C (p.Met2410Thr)
c.7106T>C (p.Met2369Thr)
n.1356T>C
c.4712T>C (p.Met1571Thr)
c.7325T>C (p.Met2442Thr)
c.5135T>C (p.Met1712Thr)
c.4811T>C (p.Met1604Thr)
 gnomAD v4
11g.118503121T>GCA382804779KMT2Ac.7328T>G (p.Met2443Arg)
c.7319T>G (p.Met2440Arg)
c.1268T>G (p.Met423Arg)
c.1526T>G (p.Met509Arg)
c.7301T>G (p.Met2434Arg)
c.7220T>G (p.Met2407Arg)
n.6571T>G
c.7229T>G (p.Met2410Arg)
c.7106T>G (p.Met2369Arg)
n.1356T>G
c.4712T>G (p.Met1571Arg)
c.7325T>G (p.Met2442Arg)
c.5135T>G (p.Met1712Arg)
c.4811T>G (p.Met1604Arg)
 dbSNP
11g.118503122G>ACA382804781KMT2Ac.7329G>A (p.Met2443Ile)
c.7320G>A (p.Met2440Ile)
c.1269G>A (p.Met423Ile)
c.1527G>A (p.Met509Ile)
c.7302G>A (p.Met2434Ile)
c.7221G>A (p.Met2407Ile)
n.6572G>A
c.7230G>A (p.Met2410Ile)
c.7107G>A (p.Met2369Ile)
n.1357G>A
c.4713G>A (p.Met1571Ile)
c.7326G>A (p.Met2442Ile)
c.5136G>A (p.Met1712Ile)
c.4812G>A (p.Met1604Ile)
 dbSNP
11g.118503122G>CCA382804782KMT2Ac.7329G>C (p.Met2443Ile)
c.7320G>C (p.Met2440Ile)
c.1269G>C (p.Met423Ile)
c.1527G>C (p.Met509Ile)
c.7302G>C (p.Met2434Ile)
c.7221G>C (p.Met2407Ile)
n.6572G>C
c.7230G>C (p.Met2410Ile)
c.7107G>C (p.Met2369Ile)
n.1357G>C
c.4713G>C (p.Met1571Ile)
c.7326G>C (p.Met2442Ile)
c.5136G>C (p.Met1712Ile)
c.4812G>C (p.Met1604Ile)
 dbSNP
11g.118503122G>TCA382804784KMT2Ac.7329G>T (p.Met2443Ile)
c.7320G>T (p.Met2440Ile)
c.1269G>T (p.Met423Ile)
c.1527G>T (p.Met509Ile)
c.7302G>T (p.Met2434Ile)
c.7221G>T (p.Met2407Ile)
n.6572G>T
c.7230G>T (p.Met2410Ile)
c.7107G>T (p.Met2369Ile)
n.1357G>T
c.4713G>T (p.Met1571Ile)
c.7326G>T (p.Met2442Ile)
c.5136G>T (p.Met1712Ile)
c.4812G>T (p.Met1604Ile)
11g.118503123A=CA2003527431KMT2Ac.7330A= (p.Ser2444=)
c.7321A= (p.Ser2441=)
c.1270A= (p.Ser424=)
c.1528A= (p.Ser510=)
c.7303A= (p.Ser2435=)
c.7222A= (p.Ser2408=)
n.6573A=
c.7231A= (p.Ser2411=)
c.7108A= (p.Ser2370=)
n.1358A=
c.4714A= (p.Ser1572=)
c.7327A= (p.Ser2443=)
c.5137A= (p.Ser1713=)
c.4813A= (p.Ser1605=)
11g.118503123A>CCA382804787KMT2Ac.7330A>C (p.Ser2444Arg)
c.7321A>C (p.Ser2441Arg)
c.1270A>C (p.Ser424Arg)
c.1528A>C (p.Ser510Arg)
c.7303A>C (p.Ser2435Arg)
c.7222A>C (p.Ser2408Arg)
n.6573A>C
c.7231A>C (p.Ser2411Arg)
c.7108A>C (p.Ser2370Arg)
n.1358A>C
c.4714A>C (p.Ser1572Arg)
c.7327A>C (p.Ser2443Arg)
c.5137A>C (p.Ser1713Arg)
c.4813A>C (p.Ser1605Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.118503123A>GCA382804788KMT2Ac.7330A>G (p.Ser2444Gly)
c.7321A>G (p.Ser2441Gly)
c.1270A>G (p.Ser424Gly)
c.1528A>G (p.Ser510Gly)
c.7303A>G (p.Ser2435Gly)
c.7222A>G (p.Ser2408Gly)
n.6573A>G
c.7231A>G (p.Ser2411Gly)
c.7108A>G (p.Ser2370Gly)
n.1358A>G
c.4714A>G (p.Ser1572Gly)
c.7327A>G (p.Ser2443Gly)
c.5137A>G (p.Ser1713Gly)
c.4813A>G (p.Ser1605Gly)
11g.118503123A>TCA382804785KMT2Ac.7330A>T (p.Ser2444Cys)
c.7321A>T (p.Ser2441Cys)
c.1270A>T (p.Ser424Cys)
c.1528A>T (p.Ser510Cys)
c.7303A>T (p.Ser2435Cys)
c.7222A>T (p.Ser2408Cys)
n.6573A>T
c.7231A>T (p.Ser2411Cys)
c.7108A>T (p.Ser2370Cys)
n.1358A>T
c.4714A>T (p.Ser1572Cys)
c.7327A>T (p.Ser2443Cys)
c.5137A>T (p.Ser1713Cys)
c.4813A>T (p.Ser1605Cys)
11g.118503124G>ACA382804793KMT2Ac.7331G>A (p.Ser2444Asn)
c.7322G>A (p.Ser2441Asn)
c.1271G>A (p.Ser424Asn)
c.1529G>A (p.Ser510Asn)
c.7304G>A (p.Ser2435Asn)
c.7223G>A (p.Ser2408Asn)
n.6574G>A
c.7232G>A (p.Ser2411Asn)
c.7109G>A (p.Ser2370Asn)
n.1359G>A
c.4715G>A (p.Ser1572Asn)
c.7328G>A (p.Ser2443Asn)
c.5138G>A (p.Ser1713Asn)
c.4814G>A (p.Ser1605Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
11g.118503124G>CCA382804790KMT2Ac.7331G>C (p.Ser2444Thr)
c.7322G>C (p.Ser2441Thr)
c.1271G>C (p.Ser424Thr)
c.1529G>C (p.Ser510Thr)
c.7304G>C (p.Ser2435Thr)
c.7223G>C (p.Ser2408Thr)
n.6574G>C
c.7232G>C (p.Ser2411Thr)
c.7109G>C (p.Ser2370Thr)
n.1359G>C
c.4715G>C (p.Ser1572Thr)
c.7328G>C (p.Ser2443Thr)
c.5138G>C (p.Ser1713Thr)
c.4814G>C (p.Ser1605Thr)
 dbSNP
11g.118503124G=CA2003527434KMT2Ac.7331G= (p.Ser2444=)
c.7322G= (p.Ser2441=)
c.1271G= (p.Ser424=)
c.1529G= (p.Ser510=)
c.7304G= (p.Ser2435=)
c.7223G= (p.Ser2408=)
n.6574G=
c.7232G= (p.Ser2411=)
c.7109G= (p.Ser2370=)
n.1359G=
c.4715G= (p.Ser1572=)
c.7328G= (p.Ser2443=)
c.5138G= (p.Ser1713=)
c.4814G= (p.Ser1605=)
11g.118503124G>TCA382804792KMT2Ac.7331G>T (p.Ser2444Ile)
c.7322G>T (p.Ser2441Ile)
c.1271G>T (p.Ser424Ile)
c.1529G>T (p.Ser510Ile)
c.7304G>T (p.Ser2435Ile)
c.7223G>T (p.Ser2408Ile)
n.6574G>T
c.7232G>T (p.Ser2411Ile)
c.7109G>T (p.Ser2370Ile)
n.1359G>T
c.4715G>T (p.Ser1572Ile)
c.7328G>T (p.Ser2443Ile)
c.5138G>T (p.Ser1713Ile)
c.4814G>T (p.Ser1605Ile)
11g.118503125C>ACA382804795KMT2Ac.7332C>A (p.Ser2444Arg)
c.7323C>A (p.Ser2441Arg)
c.1272C>A (p.Ser424Arg)
c.1530C>A (p.Ser510Arg)
c.7305C>A (p.Ser2435Arg)
c.7224C>A (p.Ser2408Arg)
n.6575C>A
c.7233C>A (p.Ser2411Arg)
c.7110C>A (p.Ser2370Arg)
n.1360C>A
c.4716C>A (p.Ser1572Arg)
c.7329C>A (p.Ser2443Arg)
c.5139C>A (p.Ser1713Arg)
c.4815C>A (p.Ser1605Arg)
 dbSNP
11g.118503125C>GCA382804797KMT2Ac.7332C>G (p.Ser2444Arg)
c.7323C>G (p.Ser2441Arg)
c.1272C>G (p.Ser424Arg)
c.1530C>G (p.Ser510Arg)
c.7305C>G (p.Ser2435Arg)
c.7224C>G (p.Ser2408Arg)
n.6575C>G
c.7233C>G (p.Ser2411Arg)
c.7110C>G (p.Ser2370Arg)
n.1360C>G
c.4716C>G (p.Ser1572Arg)
c.7329C>G (p.Ser2443Arg)
c.5139C>G (p.Ser1713Arg)
c.4815C>G (p.Ser1605Arg)
 dbSNP
11g.118503125C>TCA477359975KMT2Ac.7332C>T (p.Ser2444=)
c.7323C>T (p.Ser2441=)
c.1272C>T (p.Ser424=)
c.1530C>T (p.Ser510=)
c.7305C>T (p.Ser2435=)
c.7224C>T (p.Ser2408=)
n.6575C>T
c.7233C>T (p.Ser2411=)
c.7110C>T (p.Ser2370=)
n.1360C>T
c.4716C>T (p.Ser1572=)
c.7329C>T (p.Ser2443=)
c.5139C>T (p.Ser1713=)
c.4815C>T (p.Ser1605=)
11g.118503126A>CCA382804798KMT2Ac.7333A>C (p.Asn2445His)
c.7324A>C (p.Asn2442His)
c.1273A>C (p.Asn425His)
c.1531A>C (p.Asn511His)
c.7306A>C (p.Asn2436His)
c.7225A>C (p.Asn2409His)
n.6576A>C
c.7234A>C (p.Asn2412His)
c.7111A>C (p.Asn2371His)
n.1361A>C
c.4717A>C (p.Asn1573His)
c.7330A>C (p.Asn2444His)
c.5140A>C (p.Asn1714His)
c.4816A>C (p.Asn1606His)
11g.118503126A>GCA382804800KMT2Ac.7333A>G (p.Asn2445Asp)
c.7324A>G (p.Asn2442Asp)
c.1273A>G (p.Asn425Asp)
c.1531A>G (p.Asn511Asp)
c.7306A>G (p.Asn2436Asp)
c.7225A>G (p.Asn2409Asp)
n.6576A>G
c.7234A>G (p.Asn2412Asp)
c.7111A>G (p.Asn2371Asp)
n.1361A>G
c.4717A>G (p.Asn1573Asp)
c.7330A>G (p.Asn2444Asp)
c.5140A>G (p.Asn1714Asp)
c.4816A>G (p.Asn1606Asp)
 gnomAD v4
11g.118503126A>TCA382804804KMT2Ac.7333A>T (p.Asn2445Tyr)
c.7324A>T (p.Asn2442Tyr)
c.1273A>T (p.Asn425Tyr)
c.1531A>T (p.Asn511Tyr)
c.7306A>T (p.Asn2436Tyr)
c.7225A>T (p.Asn2409Tyr)
n.6576A>T
c.7234A>T (p.Asn2412Tyr)
c.7111A>T (p.Asn2371Tyr)
n.1361A>T
c.4717A>T (p.Asn1573Tyr)
c.7330A>T (p.Asn2444Tyr)
c.5140A>T (p.Asn1714Tyr)
c.4816A>T (p.Asn1606Tyr)
11g.118503127A>CCA382804807KMT2Ac.7334A>C (p.Asn2445Thr)
c.7325A>C (p.Asn2442Thr)
c.1274A>C (p.Asn425Thr)
c.1532A>C (p.Asn511Thr)
c.7307A>C (p.Asn2436Thr)
c.7226A>C (p.Asn2409Thr)
n.6577A>C
c.7235A>C (p.Asn2412Thr)
c.7112A>C (p.Asn2371Thr)
n.1362A>C
c.4718A>C (p.Asn1573Thr)
c.7331A>C (p.Asn2444Thr)
c.5141A>C (p.Asn1714Thr)
c.4817A>C (p.Asn1606Thr)
 dbSNP
11g.118503127A>GCA382804810KMT2Ac.7334A>G (p.Asn2445Ser)
c.7325A>G (p.Asn2442Ser)
c.1274A>G (p.Asn425Ser)
c.1532A>G (p.Asn511Ser)
c.7307A>G (p.Asn2436Ser)
c.7226A>G (p.Asn2409Ser)
n.6577A>G
c.7235A>G (p.Asn2412Ser)
c.7112A>G (p.Asn2371Ser)
n.1362A>G
c.4718A>G (p.Asn1573Ser)
c.7331A>G (p.Asn2444Ser)
c.5141A>G (p.Asn1714Ser)
c.4817A>G (p.Asn1606Ser)
11g.118503127A>TCA382804808KMT2Ac.7334A>T (p.Asn2445Ile)
c.7325A>T (p.Asn2442Ile)
c.1274A>T (p.Asn425Ile)
c.1532A>T (p.Asn511Ile)
c.7307A>T (p.Asn2436Ile)
c.7226A>T (p.Asn2409Ile)
n.6577A>T
c.7235A>T (p.Asn2412Ile)
c.7112A>T (p.Asn2371Ile)
n.1362A>T
c.4718A>T (p.Asn1573Ile)
c.7331A>T (p.Asn2444Ile)
c.5141A>T (p.Asn1714Ile)
c.4817A>T (p.Asn1606Ile)
 dbSNP
11g.118503128C>ACA382804812KMT2Ac.7335C>A (p.Asn2445Lys)
c.7326C>A (p.Asn2442Lys)
c.1275C>A (p.Asn425Lys)
c.1533C>A (p.Asn511Lys)
c.7308C>A (p.Asn2436Lys)
c.7227C>A (p.Asn2409Lys)
n.6578C>A
c.7236C>A (p.Asn2412Lys)
c.7113C>A (p.Asn2371Lys)
n.1363C>A
c.4719C>A (p.Asn1573Lys)
c.7332C>A (p.Asn2444Lys)
c.5142C>A (p.Asn1714Lys)
c.4818C>A (p.Asn1606Lys)
 dbSNP
11g.118503128C=CA2003527438KMT2Ac.7335C= (p.Asn2445=)
c.7326C= (p.Asn2442=)
c.1275C= (p.Asn425=)
c.1533C= (p.Asn511=)
c.7308C= (p.Asn2436=)
c.7227C= (p.Asn2409=)
n.6578C=
c.7236C= (p.Asn2412=)
c.7113C= (p.Asn2371=)
n.1363C=
c.4719C= (p.Asn1573=)
c.7332C= (p.Asn2444=)
c.5142C= (p.Asn1714=)
c.4818C= (p.Asn1606=)
11g.118503128C>GCA382804814KMT2Ac.7335C>G (p.Asn2445Lys)
c.7326C>G (p.Asn2442Lys)
c.1275C>G (p.Asn425Lys)
c.1533C>G (p.Asn511Lys)
c.7308C>G (p.Asn2436Lys)
c.7227C>G (p.Asn2409Lys)
n.6578C>G
c.7236C>G (p.Asn2412Lys)
c.7113C>G (p.Asn2371Lys)
n.1363C>G
c.4719C>G (p.Asn1573Lys)
c.7332C>G (p.Asn2444Lys)
c.5142C>G (p.Asn1714Lys)
c.4818C>G (p.Asn1606Lys)
 dbSNP
11g.118503128C>TCA477359983KMT2Ac.7335C>T (p.Asn2445=)
c.7326C>T (p.Asn2442=)
c.1275C>T (p.Asn425=)
c.1533C>T (p.Asn511=)
c.7308C>T (p.Asn2436=)
c.7227C>T (p.Asn2409=)
n.6578C>T
c.7236C>T (p.Asn2412=)
c.7113C>T (p.Asn2371=)
n.1363C>T
c.4719C>T (p.Asn1573=)
c.7332C>T (p.Asn2444=)
c.5142C>T (p.Asn1714=)
c.4818C>T (p.Asn1606=)
 dbSNP gnomAD v3 gnomAD v4
11g.118503129A>CCA477359984KMT2Ac.7336A>C (p.Arg2446=)
c.7327A>C (p.Arg2443=)
c.1276A>C (p.Arg426=)
c.1534A>C (p.Arg512=)
c.7309A>C (p.Arg2437=)
c.7228A>C (p.Arg2410=)
n.6579A>C
c.7237A>C (p.Arg2413=)
c.7114A>C (p.Arg2372=)
n.1364A>C
c.4720A>C (p.Arg1574=)
c.7333A>C (p.Arg2445=)
c.5143A>C (p.Arg1715=)
c.4819A>C (p.Arg1607=)
11g.118503129A>GCA382804815KMT2Ac.7336A>G (p.Arg2446Gly)
c.7327A>G (p.Arg2443Gly)
c.1276A>G (p.Arg426Gly)
c.1534A>G (p.Arg512Gly)
c.7309A>G (p.Arg2437Gly)
c.7228A>G (p.Arg2410Gly)
n.6579A>G
c.7237A>G (p.Arg2413Gly)
c.7114A>G (p.Arg2372Gly)
n.1364A>G
c.4720A>G (p.Arg1574Gly)
c.7333A>G (p.Arg2445Gly)
c.5143A>G (p.Arg1715Gly)
c.4819A>G (p.Arg1607Gly)
 dbSNP
11g.118503129A>TCA382804816KMT2Ac.7336A>T (p.Arg2446Ter)
c.7327A>T (p.Arg2443Ter)
c.1276A>T (p.Arg426Ter)
c.1534A>T (p.Arg512Ter)
c.7309A>T (p.Arg2437Ter)
c.7228A>T (p.Arg2410Ter)
n.6579A>T
c.7237A>T (p.Arg2413Ter)
c.7114A>T (p.Arg2372Ter)
n.1364A>T
c.4720A>T (p.Arg1574Ter)
c.7333A>T (p.Arg2445Ter)
c.5143A>T (p.Arg1715Ter)
c.4819A>T (p.Arg1607Ter)
11g.118503130G>ACA382804819KMT2Ac.7337G>A (p.Arg2446Lys)
c.7328G>A (p.Arg2443Lys)
c.1277G>A (p.Arg426Lys)
c.1535G>A (p.Arg512Lys)
c.7310G>A (p.Arg2437Lys)
c.7229G>A (p.Arg2410Lys)
n.6580G>A
c.7238G>A (p.Arg2413Lys)
c.7115G>A (p.Arg2372Lys)
n.1365G>A
c.4721G>A (p.Arg1574Lys)
c.7334G>A (p.Arg2445Lys)
c.5144G>A (p.Arg1715Lys)
c.4820G>A (p.Arg1607Lys)
 dbSNP
11g.118503130G>CCA382804822KMT2Ac.7337G>C (p.Arg2446Thr)
c.7328G>C (p.Arg2443Thr)
c.1277G>C (p.Arg426Thr)
c.1535G>C (p.Arg512Thr)
c.7310G>C (p.Arg2437Thr)
c.7229G>C (p.Arg2410Thr)
n.6580G>C
c.7238G>C (p.Arg2413Thr)
c.7115G>C (p.Arg2372Thr)
n.1365G>C
c.4721G>C (p.Arg1574Thr)
c.7334G>C (p.Arg2445Thr)
c.5144G>C (p.Arg1715Thr)
c.4820G>C (p.Arg1607Thr)
 dbSNP
11g.118503130G=CA2003527441KMT2Ac.7337G= (p.Arg2446=)
c.7328G= (p.Arg2443=)
c.1277G= (p.Arg426=)
c.1535G= (p.Arg512=)
c.7310G= (p.Arg2437=)
c.7229G= (p.Arg2410=)
n.6580G=
c.7238G= (p.Arg2413=)
c.7115G= (p.Arg2372=)
n.1365G=
c.4721G= (p.Arg1574=)
c.7334G= (p.Arg2445=)
c.5144G= (p.Arg1715=)
c.4820G= (p.Arg1607=)
11g.118503130G>TCA382804821KMT2Ac.7337G>T (p.Arg2446Ile)
c.7328G>T (p.Arg2443Ile)
c.1277G>T (p.Arg426Ile)
c.1535G>T (p.Arg512Ile)
c.7310G>T (p.Arg2437Ile)
c.7229G>T (p.Arg2410Ile)
n.6580G>T
c.7238G>T (p.Arg2413Ile)
c.7115G>T (p.Arg2372Ile)
n.1365G>T
c.4721G>T (p.Arg1574Ile)
c.7334G>T (p.Arg2445Ile)
c.5144G>T (p.Arg1715Ile)
c.4820G>T (p.Arg1607Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.118503131A>CCA382804823KMT2Ac.7338A>C (p.Arg2446Ser)
c.7329A>C (p.Arg2443Ser)
c.1278A>C (p.Arg426Ser)
c.1536A>C (p.Arg512Ser)
c.7311A>C (p.Arg2437Ser)
c.7230A>C (p.Arg2410Ser)
n.6581A>C
c.7239A>C (p.Arg2413Ser)
c.7116A>C (p.Arg2372Ser)
n.1366A>C
c.4722A>C (p.Arg1574Ser)
c.7335A>C (p.Arg2445Ser)
c.5145A>C (p.Arg1715Ser)
c.4821A>C (p.Arg1607Ser)
11g.118503131A>GCA477359995KMT2Ac.7338A>G (p.Arg2446=)
c.7329A>G (p.Arg2443=)
c.1278A>G (p.Arg426=)
c.1536A>G (p.Arg512=)
c.7311A>G (p.Arg2437=)
c.7230A>G (p.Arg2410=)
n.6581A>G
c.7239A>G (p.Arg2413=)
c.7116A>G (p.Arg2372=)
n.1366A>G
c.4722A>G (p.Arg1574=)
c.7335A>G (p.Arg2445=)
c.5145A>G (p.Arg1715=)
c.4821A>G (p.Arg1607=)
11g.118503131A>TCA382804824KMT2Ac.7338A>T (p.Arg2446Ser)
c.7329A>T (p.Arg2443Ser)
c.1278A>T (p.Arg426Ser)
c.1536A>T (p.Arg512Ser)
c.7311A>T (p.Arg2437Ser)
c.7230A>T (p.Arg2410Ser)
n.6581A>T
c.7239A>T (p.Arg2413Ser)
c.7116A>T (p.Arg2372Ser)
n.1366A>T
c.4722A>T (p.Arg1574Ser)
c.7335A>T (p.Arg2445Ser)
c.5145A>T (p.Arg1715Ser)
c.4821A>T (p.Arg1607Ser)
11g.118503132T>ACA6304377KMT2Ac.7339T>A (p.Ser2447Thr)
c.7330T>A (p.Ser2444Thr)
c.1279T>A (p.Ser427Thr)
c.1537T>A (p.Ser513Thr)
c.7312T>A (p.Ser2438Thr)
c.7231T>A (p.Ser2411Thr)
n.6582T>A
c.7240T>A (p.Ser2414Thr)
c.7117T>A (p.Ser2373Thr)
n.1367T>A
c.4723T>A (p.Ser1575Thr)
c.7336T>A (p.Ser2446Thr)
c.5146T>A (p.Ser1716Thr)
c.4822T>A (p.Ser1608Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503132T>CCA382804825KMT2Ac.7339T>C (p.Ser2447Pro)
c.7330T>C (p.Ser2444Pro)
c.1279T>C (p.Ser427Pro)
c.1537T>C (p.Ser513Pro)
c.7312T>C (p.Ser2438Pro)
c.7231T>C (p.Ser2411Pro)
n.6582T>C
c.7240T>C (p.Ser2414Pro)
c.7117T>C (p.Ser2373Pro)
n.1367T>C
c.4723T>C (p.Ser1575Pro)
c.7336T>C (p.Ser2446Pro)
c.5146T>C (p.Ser1716Pro)
c.4822T>C (p.Ser1608Pro)
11g.118503132T>GCA382804826KMT2Ac.7339T>G (p.Ser2447Ala)
c.7330T>G (p.Ser2444Ala)
c.1279T>G (p.Ser427Ala)
c.1537T>G (p.Ser513Ala)
c.7312T>G (p.Ser2438Ala)
c.7231T>G (p.Ser2411Ala)
n.6582T>G
c.7240T>G (p.Ser2414Ala)
c.7117T>G (p.Ser2373Ala)
n.1367T>G
c.4723T>G (p.Ser1575Ala)
c.7336T>G (p.Ser2446Ala)
c.5146T>G (p.Ser1716Ala)
c.4822T>G (p.Ser1608Ala)
11g.118503132T=CA2003527445KMT2Ac.7339T= (p.Ser2447=)
c.7330T= (p.Ser2444=)
c.1279T= (p.Ser427=)
c.1537T= (p.Ser513=)
c.7312T= (p.Ser2438=)
c.7231T= (p.Ser2411=)
n.6582T=
c.7240T= (p.Ser2414=)
c.7117T= (p.Ser2373=)
n.1367T=
c.4723T= (p.Ser1575=)
c.7336T= (p.Ser2446=)
c.5146T= (p.Ser1716=)
c.4822T= (p.Ser1608=)
11g.118503133C>ACA382804827KMT2Ac.7340C>A (p.Ser2447Ter)
c.7331C>A (p.Ser2444Ter)
c.1280C>A (p.Ser427Ter)
c.1538C>A (p.Ser513Ter)
c.7313C>A (p.Ser2438Ter)
c.7232C>A (p.Ser2411Ter)
n.6583C>A
c.7241C>A (p.Ser2414Ter)
c.7118C>A (p.Ser2373Ter)
n.1368C>A
c.4724C>A (p.Ser1575Ter)
c.7337C>A (p.Ser2446Ter)
c.5147C>A (p.Ser1716Ter)
c.4823C>A (p.Ser1608Ter)
 dbSNP
11g.118503133C>GCA382804828KMT2Ac.7340C>G (p.Ser2447Ter)
c.7331C>G (p.Ser2444Ter)
c.1280C>G (p.Ser427Ter)
c.1538C>G (p.Ser513Ter)
c.7313C>G (p.Ser2438Ter)
c.7232C>G (p.Ser2411Ter)
n.6583C>G
c.7241C>G (p.Ser2414Ter)
c.7118C>G (p.Ser2373Ter)
n.1368C>G
c.4724C>G (p.Ser1575Ter)
c.7337C>G (p.Ser2446Ter)
c.5147C>G (p.Ser1716Ter)
c.4823C>G (p.Ser1608Ter)
 dbSNP
11g.118503133C>TCA382804829KMT2Ac.7340C>T (p.Ser2447Leu)
c.7331C>T (p.Ser2444Leu)
c.1280C>T (p.Ser427Leu)
c.1538C>T (p.Ser513Leu)
c.7313C>T (p.Ser2438Leu)
c.7232C>T (p.Ser2411Leu)
n.6583C>T
c.7241C>T (p.Ser2414Leu)
c.7118C>T (p.Ser2373Leu)
n.1368C>T
c.4724C>T (p.Ser1575Leu)
c.7337C>T (p.Ser2446Leu)
c.5147C>T (p.Ser1716Leu)
c.4823C>T (p.Ser1608Leu)
 dbSNP
11g.118503134A>CCA477360004KMT2Ac.7341A>C (p.Ser2447=)
c.7332A>C (p.Ser2444=)
c.1281A>C (p.Ser427=)
c.1539A>C (p.Ser513=)
c.7314A>C (p.Ser2438=)
c.7233A>C (p.Ser2411=)
n.6584A>C
c.7242A>C (p.Ser2414=)
c.7119A>C (p.Ser2373=)
n.1369A>C
c.4725A>C (p.Ser1575=)
c.7338A>C (p.Ser2446=)
c.5148A>C (p.Ser1716=)
c.4824A>C (p.Ser1608=)
 gnomAD v4
11g.118503134A>GCA477360006KMT2Ac.7341A>G (p.Ser2447=)
c.7332A>G (p.Ser2444=)
c.1281A>G (p.Ser427=)
c.1539A>G (p.Ser513=)
c.7314A>G (p.Ser2438=)
c.7233A>G (p.Ser2411=)
n.6584A>G
c.7242A>G (p.Ser2414=)
c.7119A>G (p.Ser2373=)
n.1369A>G
c.4725A>G (p.Ser1575=)
c.7338A>G (p.Ser2446=)
c.5148A>G (p.Ser1716=)
c.4824A>G (p.Ser1608=)
 dbSNP
11g.118503134A>TCA477360008KMT2Ac.7341A>T (p.Ser2447=)
c.7332A>T (p.Ser2444=)
c.1281A>T (p.Ser427=)
c.1539A>T (p.Ser513=)
c.7314A>T (p.Ser2438=)
c.7233A>T (p.Ser2411=)
n.6584A>T
c.7242A>T (p.Ser2414=)
c.7119A>T (p.Ser2373=)
n.1369A>T
c.4725A>T (p.Ser1575=)
c.7338A>T (p.Ser2446=)
c.5148A>T (p.Ser1716=)
c.4824A>T (p.Ser1608=)
 dbSNP
11g.118503135T>ACA382804830KMT2Ac.7342T>A (p.Ser2448Thr)
c.7333T>A (p.Ser2445Thr)
c.1282T>A (p.Ser428Thr)
c.1540T>A (p.Ser514Thr)
c.7315T>A (p.Ser2439Thr)
c.7234T>A (p.Ser2412Thr)
n.6585T>A
c.7243T>A (p.Ser2415Thr)
c.7120T>A (p.Ser2374Thr)
n.1370T>A
c.4726T>A (p.Ser1576Thr)
c.7339T>A (p.Ser2447Thr)
c.5149T>A (p.Ser1717Thr)
c.4825T>A (p.Ser1609Thr)
11g.118503135T>CCA382804831KMT2Ac.7342T>C (p.Ser2448Pro)
c.7333T>C (p.Ser2445Pro)
c.1282T>C (p.Ser428Pro)
c.1540T>C (p.Ser514Pro)
c.7315T>C (p.Ser2439Pro)
c.7234T>C (p.Ser2412Pro)
n.6585T>C
c.7243T>C (p.Ser2415Pro)
c.7120T>C (p.Ser2374Pro)
n.1370T>C
c.4726T>C (p.Ser1576Pro)
c.7339T>C (p.Ser2447Pro)
c.5149T>C (p.Ser1717Pro)
c.4825T>C (p.Ser1609Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503135T>GCA382804832KMT2Ac.7342T>G (p.Ser2448Ala)
c.7333T>G (p.Ser2445Ala)
c.1282T>G (p.Ser428Ala)
c.1540T>G (p.Ser514Ala)
c.7315T>G (p.Ser2439Ala)
c.7234T>G (p.Ser2412Ala)
n.6585T>G
c.7243T>G (p.Ser2415Ala)
c.7120T>G (p.Ser2374Ala)
n.1370T>G
c.4726T>G (p.Ser1576Ala)
c.7339T>G (p.Ser2447Ala)
c.5149T>G (p.Ser1717Ala)
c.4825T>G (p.Ser1609Ala)
11g.118503135T=CA2003527448KMT2Ac.7342T= (p.Ser2448=)
c.7333T= (p.Ser2445=)
c.1282T= (p.Ser428=)
c.1540T= (p.Ser514=)
c.7315T= (p.Ser2439=)
c.7234T= (p.Ser2412=)
n.6585T=
c.7243T= (p.Ser2415=)
c.7120T= (p.Ser2374=)
n.1370T=
c.4726T= (p.Ser1576=)
c.7339T= (p.Ser2447=)
c.5149T= (p.Ser1717=)
c.4825T= (p.Ser1609=)
11g.118503136C>ACA382804835KMT2Ac.7343C>A (p.Ser2448Tyr)
c.7334C>A (p.Ser2445Tyr)
c.1283C>A (p.Ser428Tyr)
c.1541C>A (p.Ser514Tyr)
c.7316C>A (p.Ser2439Tyr)
c.7235C>A (p.Ser2412Tyr)
n.6586C>A
c.7244C>A (p.Ser2415Tyr)
c.7121C>A (p.Ser2374Tyr)
n.1371C>A
c.4727C>A (p.Ser1576Tyr)
c.7340C>A (p.Ser2447Tyr)
c.5150C>A (p.Ser1717Tyr)
c.4826C>A (p.Ser1609Tyr)
 dbSNP
11g.118503136C>GCA382804834KMT2Ac.7343C>G (p.Ser2448Cys)
c.7334C>G (p.Ser2445Cys)
c.1283C>G (p.Ser428Cys)
c.1541C>G (p.Ser514Cys)
c.7316C>G (p.Ser2439Cys)
c.7235C>G (p.Ser2412Cys)
n.6586C>G
c.7244C>G (p.Ser2415Cys)
c.7121C>G (p.Ser2374Cys)
n.1371C>G
c.4727C>G (p.Ser1576Cys)
c.7340C>G (p.Ser2447Cys)
c.5150C>G (p.Ser1717Cys)
c.4826C>G (p.Ser1609Cys)
 dbSNP
11g.118503136C>TCA382804833KMT2Ac.7343C>T (p.Ser2448Phe)
c.7334C>T (p.Ser2445Phe)
c.1283C>T (p.Ser428Phe)
c.1541C>T (p.Ser514Phe)
c.7316C>T (p.Ser2439Phe)
c.7235C>T (p.Ser2412Phe)
n.6586C>T
c.7244C>T (p.Ser2415Phe)
c.7121C>T (p.Ser2374Phe)
n.1371C>T
c.4727C>T (p.Ser1576Phe)
c.7340C>T (p.Ser2447Phe)
c.5150C>T (p.Ser1717Phe)
c.4826C>T (p.Ser1609Phe)
 dbSNP
11g.118503137C>ACA477360013KMT2Ac.7344C>A (p.Ser2448=)
c.7335C>A (p.Ser2445=)
c.1284C>A (p.Ser428=)
c.1542C>A (p.Ser514=)
c.7317C>A (p.Ser2439=)
c.7236C>A (p.Ser2412=)
n.6587C>A
c.7245C>A (p.Ser2415=)
c.7122C>A (p.Ser2374=)
n.1372C>A
c.4728C>A (p.Ser1576=)
c.7341C>A (p.Ser2447=)
c.5151C>A (p.Ser1717=)
c.4827C>A (p.Ser1609=)
11g.118503137C>GCA477360014KMT2Ac.7344C>G (p.Ser2448=)
c.7335C>G (p.Ser2445=)
c.1284C>G (p.Ser428=)
c.1542C>G (p.Ser514=)
c.7317C>G (p.Ser2439=)
c.7236C>G (p.Ser2412=)
n.6587C>G
c.7245C>G (p.Ser2415=)
c.7122C>G (p.Ser2374=)
n.1372C>G
c.4728C>G (p.Ser1576=)
c.7341C>G (p.Ser2447=)
c.5151C>G (p.Ser1717=)
c.4827C>G (p.Ser1609=)
11g.118503137C>TCA477360015KMT2Ac.7344C>T (p.Ser2448=)
c.7335C>T (p.Ser2445=)
c.1284C>T (p.Ser428=)
c.1542C>T (p.Ser514=)
c.7317C>T (p.Ser2439=)
c.7236C>T (p.Ser2412=)
n.6587C>T
c.7245C>T (p.Ser2415=)
c.7122C>T (p.Ser2374=)
n.1372C>T
c.4728C>T (p.Ser1576=)
c.7341C>T (p.Ser2447=)
c.5151C>T (p.Ser1717=)
c.4827C>T (p.Ser1609=)
 COSMIC COSMIC
11g.118503138A>CCA382804836KMT2Ac.7345A>C (p.Ile2449Leu)
c.7336A>C (p.Ile2446Leu)
c.1285A>C (p.Ile429Leu)
c.1543A>C (p.Ile515Leu)
c.7318A>C (p.Ile2440Leu)
c.7237A>C (p.Ile2413Leu)
n.6588A>C
c.7246A>C (p.Ile2416Leu)
c.7123A>C (p.Ile2375Leu)
n.1373A>C
c.4729A>C (p.Ile1577Leu)
c.7342A>C (p.Ile2448Leu)
c.5152A>C (p.Ile1718Leu)
c.4828A>C (p.Ile1610Leu)
11g.118503138A>GCA382804837KMT2Ac.7345A>G (p.Ile2449Val)
c.7336A>G (p.Ile2446Val)
c.1285A>G (p.Ile429Val)
c.1543A>G (p.Ile515Val)
c.7318A>G (p.Ile2440Val)
c.7237A>G (p.Ile2413Val)
n.6588A>G
c.7246A>G (p.Ile2416Val)
c.7123A>G (p.Ile2375Val)
n.1373A>G
c.4729A>G (p.Ile1577Val)
c.7342A>G (p.Ile2448Val)
c.5152A>G (p.Ile1718Val)
c.4828A>G (p.Ile1610Val)
11g.118503138A>TCA382804838KMT2Ac.7345A>T (p.Ile2449Phe)
c.7336A>T (p.Ile2446Phe)
c.1285A>T (p.Ile429Phe)
c.1543A>T (p.Ile515Phe)
c.7318A>T (p.Ile2440Phe)
c.7237A>T (p.Ile2413Phe)
n.6588A>T
c.7246A>T (p.Ile2416Phe)
c.7123A>T (p.Ile2375Phe)
n.1373A>T
c.4729A>T (p.Ile1577Phe)
c.7342A>T (p.Ile2448Phe)
c.5152A>T (p.Ile1718Phe)
c.4828A>T (p.Ile1610Phe)
11g.118503138_118503139insAGTGACTGCA2516500221KMT2Ac.7345_7346insAGTGACTG (p.Ile2449LysfsTer2)
c.7336_7337insAGTGACTG (p.Ile2446LysfsTer2)
c.1285_1286insAGTGACTG (p.Ile429LysfsTer2)
c.1543_1544insAGTGACTG (p.Ile515LysfsTer2)
c.7318_7319insAGTGACTG (p.Ile2440LysfsTer2)
c.7237_7238insAGTGACTG (p.Ile2413LysfsTer2)
n.6588_6589insAGTGACTG
c.7246_7247insAGTGACTG (p.Ile2416LysfsTer2)
c.7123_7124insAGTGACTG (p.Ile2375LysfsTer2)
n.1373_1374insAGTGACTG
c.4729_4730insAGTGACTG (p.Ile1577LysfsTer2)
c.7342_7343insAGTGACTG (p.Ile2448LysfsTer2)
c.5152_5153insAGTGACTG (p.Ile1718LysfsTer2)
c.4828_4829insAGTGACTG (p.Ile1610LysfsTer2)
11g.118503139T>ACA382804839KMT2Ac.7346T>A (p.Ile2449Asn)
c.7337T>A (p.Ile2446Asn)
c.1286T>A (p.Ile429Asn)
c.1544T>A (p.Ile515Asn)
c.7319T>A (p.Ile2440Asn)
c.7238T>A (p.Ile2413Asn)
n.6589T>A
c.7247T>A (p.Ile2416Asn)
c.7124T>A (p.Ile2375Asn)
n.1374T>A
c.4730T>A (p.Ile1577Asn)
c.7343T>A (p.Ile2448Asn)
c.5153T>A (p.Ile1718Asn)
c.4829T>A (p.Ile1610Asn)
11g.118503139T>CCA382804840KMT2Ac.7346T>C (p.Ile2449Thr)
c.7337T>C (p.Ile2446Thr)
c.1286T>C (p.Ile429Thr)
c.1544T>C (p.Ile515Thr)
c.7319T>C (p.Ile2440Thr)
c.7238T>C (p.Ile2413Thr)
n.6589T>C
c.7247T>C (p.Ile2416Thr)
c.7124T>C (p.Ile2375Thr)
n.1374T>C
c.4730T>C (p.Ile1577Thr)
c.7343T>C (p.Ile2448Thr)
c.5153T>C (p.Ile1718Thr)
c.4829T>C (p.Ile1610Thr)
11g.118503139T>GCA382804841KMT2Ac.7346T>G (p.Ile2449Ser)
c.7337T>G (p.Ile2446Ser)
c.1286T>G (p.Ile429Ser)
c.1544T>G (p.Ile515Ser)
c.7319T>G (p.Ile2440Ser)
c.7238T>G (p.Ile2413Ser)
n.6589T>G
c.7247T>G (p.Ile2416Ser)
c.7124T>G (p.Ile2375Ser)
n.1374T>G
c.4730T>G (p.Ile1577Ser)
c.7343T>G (p.Ile2448Ser)
c.5153T>G (p.Ile1718Ser)
c.4829T>G (p.Ile1610Ser)
11g.118503140delCA2582342477KMT2Ac.7347del (p.Ile2450SerfsTer?)
c.7338del (p.Ile2447SerfsTer?)
c.1287del (p.Ile430SerfsTer?)
c.1545del (p.Ile516SerfsTer?)
c.7320del (p.Ile2441SerfsTer?)
c.7239del (p.Ile2414SerfsTer?)
n.6590del
c.7248del (p.Ile2417SerfsTer?)
c.7125del (p.Ile2376SerfsTer?)
n.1375del
c.4731del (p.Ile1578SerfsTer?)
c.7344del (p.Ile2449SerfsTer?)
c.5154del (p.Ile1719SerfsTer?)
c.4830del (p.Ile1611SerfsTer?)
 ClinVar
11g.118503140T>ACA477360018KMT2Ac.7347T>A (p.Ile2449=)
c.7338T>A (p.Ile2446=)
c.1287T>A (p.Ile429=)
c.1545T>A (p.Ile515=)
c.7320T>A (p.Ile2440=)
c.7239T>A (p.Ile2413=)
n.6590T>A
c.7248T>A (p.Ile2416=)
c.7125T>A (p.Ile2375=)
n.1375T>A
c.4731T>A (p.Ile1577=)
c.7344T>A (p.Ile2448=)
c.5154T>A (p.Ile1718=)
c.4830T>A (p.Ile1610=)
11g.118503140T>CCA477360020KMT2Ac.7347T>C (p.Ile2449=)
c.7338T>C (p.Ile2446=)
c.1287T>C (p.Ile429=)
c.1545T>C (p.Ile515=)
c.7320T>C (p.Ile2440=)
c.7239T>C (p.Ile2413=)
n.6590T>C
c.7248T>C (p.Ile2416=)
c.7125T>C (p.Ile2375=)
n.1375T>C
c.4731T>C (p.Ile1577=)
c.7344T>C (p.Ile2448=)
c.5154T>C (p.Ile1718=)
c.4830T>C (p.Ile1610=)
11g.118503140T>GCA382804842KMT2Ac.7347T>G (p.Ile2449Met)
c.7338T>G (p.Ile2446Met)
c.1287T>G (p.Ile429Met)
c.1545T>G (p.Ile515Met)
c.7320T>G (p.Ile2440Met)
c.7239T>G (p.Ile2413Met)
n.6590T>G
c.7248T>G (p.Ile2416Met)
c.7125T>G (p.Ile2375Met)
n.1375T>G
c.4731T>G (p.Ile1577Met)
c.7344T>G (p.Ile2448Met)
c.5154T>G (p.Ile1718Met)
c.4830T>G (p.Ile1610Met)
11g.118503141A>CCA382804843KMT2Ac.7348A>C (p.Ile2450Leu)
c.7339A>C (p.Ile2447Leu)
c.1288A>C (p.Ile430Leu)
c.1546A>C (p.Ile516Leu)
c.7321A>C (p.Ile2441Leu)
c.7240A>C (p.Ile2414Leu)
n.6591A>C
c.7249A>C (p.Ile2417Leu)
c.7126A>C (p.Ile2376Leu)
n.1376A>C
c.4732A>C (p.Ile1578Leu)
c.7345A>C (p.Ile2449Leu)
c.5155A>C (p.Ile1719Leu)
c.4831A>C (p.Ile1611Leu)
11g.118503141A>GCA382804845KMT2Ac.7348A>G (p.Ile2450Val)
c.7339A>G (p.Ile2447Val)
c.1288A>G (p.Ile430Val)
c.1546A>G (p.Ile516Val)
c.7321A>G (p.Ile2441Val)
c.7240A>G (p.Ile2414Val)
n.6591A>G
c.7249A>G (p.Ile2417Val)
c.7126A>G (p.Ile2376Val)
n.1376A>G
c.4732A>G (p.Ile1578Val)
c.7345A>G (p.Ile2449Val)
c.5155A>G (p.Ile1719Val)
c.4831A>G (p.Ile1611Val)
11g.118503141A>TCA382804844KMT2Ac.7348A>T (p.Ile2450Phe)
c.7339A>T (p.Ile2447Phe)
c.1288A>T (p.Ile430Phe)
c.1546A>T (p.Ile516Phe)
c.7321A>T (p.Ile2441Phe)
c.7240A>T (p.Ile2414Phe)
n.6591A>T
c.7249A>T (p.Ile2417Phe)
c.7126A>T (p.Ile2376Phe)
n.1376A>T
c.4732A>T (p.Ile1578Phe)
c.7345A>T (p.Ile2449Phe)
c.5155A>T (p.Ile1719Phe)
c.4831A>T (p.Ile1611Phe)
11g.118503142T>ACA382804846KMT2Ac.7349T>A (p.Ile2450Asn)
c.7340T>A (p.Ile2447Asn)
c.1289T>A (p.Ile430Asn)
c.1547T>A (p.Ile516Asn)
c.7322T>A (p.Ile2441Asn)
c.7241T>A (p.Ile2414Asn)
n.6592T>A
c.7250T>A (p.Ile2417Asn)
c.7127T>A (p.Ile2376Asn)
n.1377T>A
c.4733T>A (p.Ile1578Asn)
c.7346T>A (p.Ile2449Asn)
c.5156T>A (p.Ile1719Asn)
c.4832T>A (p.Ile1611Asn)
 dbSNP
11g.118503142T>CCA382804847KMT2Ac.7349T>C (p.Ile2450Thr)
c.7340T>C (p.Ile2447Thr)
c.1289T>C (p.Ile430Thr)
c.1547T>C (p.Ile516Thr)
c.7322T>C (p.Ile2441Thr)
c.7241T>C (p.Ile2414Thr)
n.6592T>C
c.7250T>C (p.Ile2417Thr)
c.7127T>C (p.Ile2376Thr)
n.1377T>C
c.4733T>C (p.Ile1578Thr)
c.7346T>C (p.Ile2449Thr)
c.5156T>C (p.Ile1719Thr)
c.4832T>C (p.Ile1611Thr)
 gnomAD v4
11g.118503142T>GCA382804848KMT2Ac.7349T>G (p.Ile2450Ser)
c.7340T>G (p.Ile2447Ser)
c.1289T>G (p.Ile430Ser)
c.1547T>G (p.Ile516Ser)
c.7322T>G (p.Ile2441Ser)
c.7241T>G (p.Ile2414Ser)
n.6592T>G
c.7250T>G (p.Ile2417Ser)
c.7127T>G (p.Ile2376Ser)
n.1377T>G
c.4733T>G (p.Ile1578Ser)
c.7346T>G (p.Ile2449Ser)
c.5156T>G (p.Ile1719Ser)
c.4832T>G (p.Ile1611Ser)
11g.118503143C>ACA477360023KMT2Ac.7350C>A (p.Ile2450=)
c.7341C>A (p.Ile2447=)
c.1290C>A (p.Ile430=)
c.1548C>A (p.Ile516=)
c.7323C>A (p.Ile2441=)
c.7242C>A (p.Ile2414=)
n.6593C>A
c.7251C>A (p.Ile2417=)
c.7128C>A (p.Ile2376=)
n.1378C>A
c.4734C>A (p.Ile1578=)
c.7347C>A (p.Ile2449=)
c.5157C>A (p.Ile1719=)
c.4833C>A (p.Ile1611=)
 dbSNP
11g.118503143C=CA2003527454KMT2Ac.7350C= (p.Ile2450=)
c.7341C= (p.Ile2447=)
c.1290C= (p.Ile430=)
c.1548C= (p.Ile516=)
c.7323C= (p.Ile2441=)
c.7242C= (p.Ile2414=)
n.6593C=
c.7251C= (p.Ile2417=)
c.7128C= (p.Ile2376=)
n.1378C=
c.4734C= (p.Ile1578=)
c.7347C= (p.Ile2449=)
c.5157C= (p.Ile1719=)
c.4833C= (p.Ile1611=)
11g.118503143C>GCA382804849KMT2Ac.7350C>G (p.Ile2450Met)
c.7341C>G (p.Ile2447Met)
c.1290C>G (p.Ile430Met)
c.1548C>G (p.Ile516Met)
c.7323C>G (p.Ile2441Met)
c.7242C>G (p.Ile2414Met)
n.6593C>G
c.7251C>G (p.Ile2417Met)
c.7128C>G (p.Ile2376Met)
n.1378C>G
c.4734C>G (p.Ile1578Met)
c.7347C>G (p.Ile2449Met)
c.5157C>G (p.Ile1719Met)
c.4833C>G (p.Ile1611Met)
 dbSNP gnomAD v4
11g.118503143C>TCA477360028KMT2Ac.7350C>T (p.Ile2450=)
c.7341C>T (p.Ile2447=)
c.1290C>T (p.Ile430=)
c.1548C>T (p.Ile516=)
c.7323C>T (p.Ile2441=)
c.7242C>T (p.Ile2414=)
n.6593C>T
c.7251C>T (p.Ile2417=)
c.7128C>T (p.Ile2376=)
n.1378C>T
c.4734C>T (p.Ile1578=)
c.7347C>T (p.Ile2449=)
c.5157C>T (p.Ile1719=)
c.4833C>T (p.Ile1611=)
 dbSNP
11g.118503144A=CA2003527457KMT2Ac.7351A= (p.Asn2451=)
c.7342A= (p.Asn2448=)
c.1291A= (p.Asn431=)
c.1549A= (p.Asn517=)
c.7324A= (p.Asn2442=)
c.7243A= (p.Asn2415=)
n.6594A=
c.7252A= (p.Asn2418=)
c.7129A= (p.Asn2377=)
n.1379A=
c.4735A= (p.Asn1579=)
c.7348A= (p.Asn2450=)
c.5158A= (p.Asn1720=)
c.4834A= (p.Asn1612=)
11g.118503144A>CCA382804850KMT2Ac.7351A>C (p.Asn2451His)
c.7342A>C (p.Asn2448His)
c.1291A>C (p.Asn431His)
c.1549A>C (p.Asn517His)
c.7324A>C (p.Asn2442His)
c.7243A>C (p.Asn2415His)
n.6594A>C
c.7252A>C (p.Asn2418His)
c.7129A>C (p.Asn2377His)
n.1379A>C
c.4735A>C (p.Asn1579His)
c.7348A>C (p.Asn2450His)
c.5158A>C (p.Asn1720His)
c.4834A>C (p.Asn1612His)
11g.118503144A>GCA6304378KMT2Ac.7351A>G (p.Asn2451Asp)
c.7342A>G (p.Asn2448Asp)
c.1291A>G (p.Asn431Asp)
c.1549A>G (p.Asn517Asp)
c.7324A>G (p.Asn2442Asp)
c.7243A>G (p.Asn2415Asp)
n.6594A>G
c.7252A>G (p.Asn2418Asp)
c.7129A>G (p.Asn2377Asp)
n.1379A>G
c.4735A>G (p.Asn1579Asp)
c.7348A>G (p.Asn2450Asp)
c.5158A>G (p.Asn1720Asp)
c.4834A>G (p.Asn1612Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503144A>TCA382804851KMT2Ac.7351A>T (p.Asn2451Tyr)
c.7342A>T (p.Asn2448Tyr)
c.1291A>T (p.Asn431Tyr)
c.1549A>T (p.Asn517Tyr)
c.7324A>T (p.Asn2442Tyr)
c.7243A>T (p.Asn2415Tyr)
n.6594A>T
c.7252A>T (p.Asn2418Tyr)
c.7129A>T (p.Asn2377Tyr)
n.1379A>T
c.4735A>T (p.Asn1579Tyr)
c.7348A>T (p.Asn2450Tyr)
c.5158A>T (p.Asn1720Tyr)
c.4834A>T (p.Asn1612Tyr)
 dbSNP
11g.118503145A=CA2003527462KMT2Ac.7352A= (p.Asn2451=)
c.7343A= (p.Asn2448=)
c.1292A= (p.Asn431=)
c.1550A= (p.Asn517=)
c.7325A= (p.Asn2442=)
c.7244A= (p.Asn2415=)
n.6595A=
c.7253A= (p.Asn2418=)
c.7130A= (p.Asn2377=)
n.1380A=
c.4736A= (p.Asn1579=)
c.7349A= (p.Asn2450=)
c.5159A= (p.Asn1720=)
c.4835A= (p.Asn1612=)
11g.118503145A>CCA382804852KMT2Ac.7352A>C (p.Asn2451Thr)
c.7343A>C (p.Asn2448Thr)
c.1292A>C (p.Asn431Thr)
c.1550A>C (p.Asn517Thr)
c.7325A>C (p.Asn2442Thr)
c.7244A>C (p.Asn2415Thr)
n.6595A>C
c.7253A>C (p.Asn2418Thr)
c.7130A>C (p.Asn2377Thr)
n.1380A>C
c.4736A>C (p.Asn1579Thr)
c.7349A>C (p.Asn2450Thr)
c.5159A>C (p.Asn1720Thr)
c.4835A>C (p.Asn1612Thr)
11g.118503145A>GCA382804853KMT2Ac.7352A>G (p.Asn2451Ser)
c.7343A>G (p.Asn2448Ser)
c.1292A>G (p.Asn431Ser)
c.1550A>G (p.Asn517Ser)
c.7325A>G (p.Asn2442Ser)
c.7244A>G (p.Asn2415Ser)
n.6595A>G
c.7253A>G (p.Asn2418Ser)
c.7130A>G (p.Asn2377Ser)
n.1380A>G
c.4736A>G (p.Asn1579Ser)
c.7349A>G (p.Asn2450Ser)
c.5159A>G (p.Asn1720Ser)
c.4835A>G (p.Asn1612Ser)
 dbSNP gnomAD v4
11g.118503145A>TCA382804854KMT2Ac.7352A>T (p.Asn2451Ile)
c.7343A>T (p.Asn2448Ile)
c.1292A>T (p.Asn431Ile)
c.1550A>T (p.Asn517Ile)
c.7325A>T (p.Asn2442Ile)
c.7244A>T (p.Asn2415Ile)
n.6595A>T
c.7253A>T (p.Asn2418Ile)
c.7130A>T (p.Asn2377Ile)
n.1380A>T
c.4736A>T (p.Asn1579Ile)
c.7349A>T (p.Asn2450Ile)
c.5159A>T (p.Asn1720Ile)
c.4835A>T (p.Asn1612Ile)
11g.118503146C>ACA382804855KMT2Ac.7353C>A (p.Asn2451Lys)
c.7344C>A (p.Asn2448Lys)
c.1293C>A (p.Asn431Lys)
c.1551C>A (p.Asn517Lys)
c.7326C>A (p.Asn2442Lys)
c.7245C>A (p.Asn2415Lys)
n.6596C>A
c.7254C>A (p.Asn2418Lys)
c.7131C>A (p.Asn2377Lys)
n.1381C>A
c.4737C>A (p.Asn1579Lys)
c.7350C>A (p.Asn2450Lys)
c.5160C>A (p.Asn1720Lys)
c.4836C>A (p.Asn1612Lys)
 dbSNP
11g.118503146C=CA2003527472KMT2Ac.7353C= (p.Asn2451=)
c.7344C= (p.Asn2448=)
c.1293C= (p.Asn431=)
c.1551C= (p.Asn517=)
c.7326C= (p.Asn2442=)
c.7245C= (p.Asn2415=)
n.6596C=
c.7254C= (p.Asn2418=)
c.7131C= (p.Asn2377=)
n.1381C=
c.4737C= (p.Asn1579=)
c.7350C= (p.Asn2450=)
c.5160C= (p.Asn1720=)
c.4836C= (p.Asn1612=)
11g.118503146C>GCA382804856KMT2Ac.7353C>G (p.Asn2451Lys)
c.7344C>G (p.Asn2448Lys)
c.1293C>G (p.Asn431Lys)
c.1551C>G (p.Asn517Lys)
c.7326C>G (p.Asn2442Lys)
c.7245C>G (p.Asn2415Lys)
n.6596C>G
c.7254C>G (p.Asn2418Lys)
c.7131C>G (p.Asn2377Lys)
n.1381C>G
c.4737C>G (p.Asn1579Lys)
c.7350C>G (p.Asn2450Lys)
c.5160C>G (p.Asn1720Lys)
c.4836C>G (p.Asn1612Lys)
 dbSNP
11g.118503146C>TCA172394KMT2Ac.7353C>T (p.Asn2451=)
c.7344C>T (p.Asn2448=)
c.1293C>T (p.Asn431=)
c.1551C>T (p.Asn517=)
c.7326C>T (p.Asn2442=)
c.7245C>T (p.Asn2415=)
n.6596C>T
c.7254C>T (p.Asn2418=)
c.7131C>T (p.Asn2377=)
n.1381C>T
c.4737C>T (p.Asn1579=)
c.7350C>T (p.Asn2450=)
c.5160C>T (p.Asn1720=)
c.4836C>T (p.Asn1612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503147G>ACA6304379KMT2Ac.7354G>A (p.Glu2452Lys)
c.7345G>A (p.Glu2449Lys)
c.1294G>A (p.Glu432Lys)
c.1552G>A (p.Glu518Lys)
c.7327G>A (p.Glu2443Lys)
c.7246G>A (p.Glu2416Lys)
n.6597G>A
c.7255G>A (p.Glu2419Lys)
c.7132G>A (p.Glu2378Lys)
n.1382G>A
c.4738G>A (p.Glu1580Lys)
c.7351G>A (p.Glu2451Lys)
c.5161G>A (p.Glu1721Lys)
c.4837G>A (p.Glu1613Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503147G>CCA382804857KMT2Ac.7354G>C (p.Glu2452Gln)
c.7345G>C (p.Glu2449Gln)
c.1294G>C (p.Glu432Gln)
c.1552G>C (p.Glu518Gln)
c.7327G>C (p.Glu2443Gln)
c.7246G>C (p.Glu2416Gln)
n.6597G>C
c.7255G>C (p.Glu2419Gln)
c.7132G>C (p.Glu2378Gln)
n.1382G>C
c.4738G>C (p.Glu1580Gln)
c.7351G>C (p.Glu2451Gln)
c.5161G>C (p.Glu1721Gln)
c.4837G>C (p.Glu1613Gln)
 dbSNP
11g.118503147G=CA2003527479KMT2Ac.7354G= (p.Glu2452=)
c.7345G= (p.Glu2449=)
c.1294G= (p.Glu432=)
c.1552G= (p.Glu518=)
c.7327G= (p.Glu2443=)
c.7246G= (p.Glu2416=)
n.6597G=
c.7255G= (p.Glu2419=)
c.7132G= (p.Glu2378=)
n.1382G=
c.4738G= (p.Glu1580=)
c.7351G= (p.Glu2451=)
c.5161G= (p.Glu1721=)
c.4837G= (p.Glu1613=)
11g.118503147G>TCA382804858KMT2Ac.7354G>T (p.Glu2452Ter)
c.7345G>T (p.Glu2449Ter)
c.1294G>T (p.Glu432Ter)
c.1552G>T (p.Glu518Ter)
c.7327G>T (p.Glu2443Ter)
c.7246G>T (p.Glu2416Ter)
n.6597G>T
c.7255G>T (p.Glu2419Ter)
c.7132G>T (p.Glu2378Ter)
n.1382G>T
c.4738G>T (p.Glu1580Ter)
c.7351G>T (p.Glu2451Ter)
c.5161G>T (p.Glu1721Ter)
c.4837G>T (p.Glu1613Ter)
11g.118503148A>CCA382804859KMT2Ac.7355A>C (p.Glu2452Ala)
c.7346A>C (p.Glu2449Ala)
c.1295A>C (p.Glu432Ala)
c.1553A>C (p.Glu518Ala)
c.7328A>C (p.Glu2443Ala)
c.7247A>C (p.Glu2416Ala)
n.6598A>C
c.7256A>C (p.Glu2419Ala)
c.7133A>C (p.Glu2378Ala)
n.1383A>C
c.4739A>C (p.Glu1580Ala)
c.7352A>C (p.Glu2451Ala)
c.5162A>C (p.Glu1721Ala)
c.4838A>C (p.Glu1613Ala)
11g.118503148A>GCA382804860KMT2Ac.7355A>G (p.Glu2452Gly)
c.7346A>G (p.Glu2449Gly)
c.1295A>G (p.Glu432Gly)
c.1553A>G (p.Glu518Gly)
c.7328A>G (p.Glu2443Gly)
c.7247A>G (p.Glu2416Gly)
n.6598A>G
c.7256A>G (p.Glu2419Gly)
c.7133A>G (p.Glu2378Gly)
n.1383A>G
c.4739A>G (p.Glu1580Gly)
c.7352A>G (p.Glu2451Gly)
c.5162A>G (p.Glu1721Gly)
c.4838A>G (p.Glu1613Gly)
11g.118503148A>TCA382804861KMT2Ac.7355A>T (p.Glu2452Val)
c.7346A>T (p.Glu2449Val)
c.1295A>T (p.Glu432Val)
c.1553A>T (p.Glu518Val)
c.7328A>T (p.Glu2443Val)
c.7247A>T (p.Glu2416Val)
n.6598A>T
c.7256A>T (p.Glu2419Val)
c.7133A>T (p.Glu2378Val)
n.1383A>T
c.4739A>T (p.Glu1580Val)
c.7352A>T (p.Glu2451Val)
c.5162A>T (p.Glu1721Val)
c.4838A>T (p.Glu1613Val)
 dbSNP
11g.118503149A>CCA382804863KMT2Ac.7356A>C (p.Glu2452Asp)
c.7347A>C (p.Glu2449Asp)
c.1296A>C (p.Glu432Asp)
c.1554A>C (p.Glu518Asp)
c.7329A>C (p.Glu2443Asp)
c.7248A>C (p.Glu2416Asp)
n.6599A>C
c.7257A>C (p.Glu2419Asp)
c.7134A>C (p.Glu2378Asp)
n.1384A>C
c.4740A>C (p.Glu1580Asp)
c.7353A>C (p.Glu2451Asp)
c.5163A>C (p.Glu1721Asp)
c.4839A>C (p.Glu1613Asp)
11g.118503149A>GCA477359244KMT2Ac.7356A>G (p.Glu2452=)
c.7347A>G (p.Glu2449=)
c.1296A>G (p.Glu432=)
c.1554A>G (p.Glu518=)
c.7329A>G (p.Glu2443=)
c.7248A>G (p.Glu2416=)
n.6599A>G
c.7257A>G (p.Glu2419=)
c.7134A>G (p.Glu2378=)
n.1384A>G
c.4740A>G (p.Glu1580=)
c.7353A>G (p.Glu2451=)
c.5163A>G (p.Glu1721=)
c.4839A>G (p.Glu1613=)
 COSMIC COSMIC
11g.118503149A>TCA382804862KMT2Ac.7356A>T (p.Glu2452Asp)
c.7347A>T (p.Glu2449Asp)
c.1296A>T (p.Glu432Asp)
c.1554A>T (p.Glu518Asp)
c.7329A>T (p.Glu2443Asp)
c.7248A>T (p.Glu2416Asp)
n.6599A>T
c.7257A>T (p.Glu2419Asp)
c.7134A>T (p.Glu2378Asp)
n.1384A>T
c.4740A>T (p.Glu1580Asp)
c.7353A>T (p.Glu2451Asp)
c.5163A>T (p.Glu1721Asp)
c.4839A>T (p.Glu1613Asp)
 dbSNP
11g.118503150C>ACA382804864KMT2Ac.7357C>A (p.His2453Asn)
c.7348C>A (p.His2450Asn)
c.1297C>A (p.His433Asn)
c.1555C>A (p.His519Asn)
c.7330C>A (p.His2444Asn)
c.7249C>A (p.His2417Asn)
n.6600C>A
c.7258C>A (p.His2420Asn)
c.7135C>A (p.His2379Asn)
n.1385C>A
c.4741C>A (p.His1581Asn)
c.7354C>A (p.His2452Asn)
c.5164C>A (p.His1722Asn)
c.4840C>A (p.His1614Asn)
11g.118503150C>GCA382804866KMT2Ac.7357C>G (p.His2453Asp)
c.7348C>G (p.His2450Asp)
c.1297C>G (p.His433Asp)
c.1555C>G (p.His519Asp)
c.7330C>G (p.His2444Asp)
c.7249C>G (p.His2417Asp)
n.6600C>G
c.7258C>G (p.His2420Asp)
c.7135C>G (p.His2379Asp)
n.1385C>G
c.4741C>G (p.His1581Asp)
c.7354C>G (p.His2452Asp)
c.5164C>G (p.His1722Asp)
c.4840C>G (p.His1614Asp)
 dbSNP
11g.118503150C>TCA382804865KMT2Ac.7357C>T (p.His2453Tyr)
c.7348C>T (p.His2450Tyr)
c.1297C>T (p.His433Tyr)
c.1555C>T (p.His519Tyr)
c.7330C>T (p.His2444Tyr)
c.7249C>T (p.His2417Tyr)
n.6600C>T
c.7258C>T (p.His2420Tyr)
c.7135C>T (p.His2379Tyr)
n.1385C>T
c.4741C>T (p.His1581Tyr)
c.7354C>T (p.His2452Tyr)
c.5164C>T (p.His1722Tyr)
c.4840C>T (p.His1614Tyr)
 dbSNP gnomAD v4
11g.118503151A=CA2003527483KMT2Ac.7358A= (p.His2453=)
c.7349A= (p.His2450=)
c.1298A= (p.His433=)
c.1556A= (p.His519=)
c.7331A= (p.His2444=)
c.7250A= (p.His2417=)
n.6601A=
c.7259A= (p.His2420=)
c.7136A= (p.His2379=)
n.1386A=
c.4742A= (p.His1581=)
c.7355A= (p.His2452=)
c.5165A= (p.His1722=)
c.4841A= (p.His1614=)
11g.118503151A>CCA382804867KMT2Ac.7358A>C (p.His2453Pro)
c.7349A>C (p.His2450Pro)
c.1298A>C (p.His433Pro)
c.1556A>C (p.His519Pro)
c.7331A>C (p.His2444Pro)
c.7250A>C (p.His2417Pro)
n.6601A>C
c.7259A>C (p.His2420Pro)
c.7136A>C (p.His2379Pro)
n.1386A>C
c.4742A>C (p.His1581Pro)
c.7355A>C (p.His2452Pro)
c.5165A>C (p.His1722Pro)
c.4841A>C (p.His1614Pro)
11g.118503151A>GCA382804869KMT2Ac.7358A>G (p.His2453Arg)
c.7349A>G (p.His2450Arg)
c.1298A>G (p.His433Arg)
c.1556A>G (p.His519Arg)
c.7331A>G (p.His2444Arg)
c.7250A>G (p.His2417Arg)
n.6601A>G
c.7259A>G (p.His2420Arg)
c.7136A>G (p.His2379Arg)
n.1386A>G
c.4742A>G (p.His1581Arg)
c.7355A>G (p.His2452Arg)
c.5165A>G (p.His1722Arg)
c.4841A>G (p.His1614Arg)
 gnomAD v4
11g.118503151A>TCA382804868KMT2Ac.7358A>T (p.His2453Leu)
c.7349A>T (p.His2450Leu)
c.1298A>T (p.His433Leu)
c.1556A>T (p.His519Leu)
c.7331A>T (p.His2444Leu)
c.7250A>T (p.His2417Leu)
n.6601A>T
c.7259A>T (p.His2420Leu)
c.7136A>T (p.His2379Leu)
n.1386A>T
c.4742A>T (p.His1581Leu)
c.7355A>T (p.His2452Leu)
c.5165A>T (p.His1722Leu)
c.4841A>T (p.His1614Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.118503152T>ACA382804870KMT2Ac.7359T>A (p.His2453Gln)
c.7350T>A (p.His2450Gln)
c.1299T>A (p.His433Gln)
c.1557T>A (p.His519Gln)
c.7332T>A (p.His2444Gln)
c.7251T>A (p.His2417Gln)
n.6602T>A
c.7260T>A (p.His2420Gln)
c.7137T>A (p.His2379Gln)
n.1387T>A
c.4743T>A (p.His1581Gln)
c.7356T>A (p.His2452Gln)
c.5166T>A (p.His1722Gln)
c.4842T>A (p.His1614Gln)
 dbSNP
11g.118503152T>CCA477359248KMT2Ac.7359T>C (p.His2453=)
c.7350T>C (p.His2450=)
c.1299T>C (p.His433=)
c.1557T>C (p.His519=)
c.7332T>C (p.His2444=)
c.7251T>C (p.His2417=)
n.6602T>C
c.7260T>C (p.His2420=)
c.7137T>C (p.His2379=)
n.1387T>C
c.4743T>C (p.His1581=)
c.7356T>C (p.His2452=)
c.5166T>C (p.His1722=)
c.4842T>C (p.His1614=)
11g.118503152T>GCA382804871KMT2Ac.7359T>G (p.His2453Gln)
c.7350T>G (p.His2450Gln)
c.1299T>G (p.His433Gln)
c.1557T>G (p.His519Gln)
c.7332T>G (p.His2444Gln)
c.7251T>G (p.His2417Gln)
n.6602T>G
c.7260T>G (p.His2420Gln)
c.7137T>G (p.His2379Gln)
n.1387T>G
c.4743T>G (p.His1581Gln)
c.7356T>G (p.His2452Gln)
c.5166T>G (p.His1722Gln)
c.4842T>G (p.His1614Gln)
11g.118503153A>CCA382804872KMT2Ac.7360A>C (p.Met2454Leu)
c.7351A>C (p.Met2451Leu)
c.1300A>C (p.Met434Leu)
c.1558A>C (p.Met520Leu)
c.7333A>C (p.Met2445Leu)
c.7252A>C (p.Met2418Leu)
n.6603A>C
c.7261A>C (p.Met2421Leu)
c.7138A>C (p.Met2380Leu)
n.1388A>C
c.4744A>C (p.Met1582Leu)
c.7357A>C (p.Met2453Leu)
c.5167A>C (p.Met1723Leu)
c.4843A>C (p.Met1615Leu)
11g.118503153A>GCA382804873KMT2Ac.7360A>G (p.Met2454Val)
c.7351A>G (p.Met2451Val)
c.1300A>G (p.Met434Val)
c.1558A>G (p.Met520Val)
c.7333A>G (p.Met2445Val)
c.7252A>G (p.Met2418Val)
n.6603A>G
c.7261A>G (p.Met2421Val)
c.7138A>G (p.Met2380Val)
n.1388A>G
c.4744A>G (p.Met1582Val)
c.7357A>G (p.Met2453Val)
c.5167A>G (p.Met1723Val)
c.4843A>G (p.Met1615Val)
11g.118503153A>TCA382804874KMT2Ac.7360A>T (p.Met2454Leu)
c.7351A>T (p.Met2451Leu)
c.1300A>T (p.Met434Leu)
c.1558A>T (p.Met520Leu)
c.7333A>T (p.Met2445Leu)
c.7252A>T (p.Met2418Leu)
n.6603A>T
c.7261A>T (p.Met2421Leu)
c.7138A>T (p.Met2380Leu)
n.1388A>T
c.4744A>T (p.Met1582Leu)
c.7357A>T (p.Met2453Leu)
c.5167A>T (p.Met1723Leu)
c.4843A>T (p.Met1615Leu)
11g.118503154T>ACA382804875KMT2Ac.7361T>A (p.Met2454Lys)
c.7352T>A (p.Met2451Lys)
c.1301T>A (p.Met434Lys)
c.1559T>A (p.Met520Lys)
c.7334T>A (p.Met2445Lys)
c.7253T>A (p.Met2418Lys)
n.6604T>A
c.7262T>A (p.Met2421Lys)
c.7139T>A (p.Met2380Lys)
n.1389T>A
c.4745T>A (p.Met1582Lys)
c.7358T>A (p.Met2453Lys)
c.5168T>A (p.Met1723Lys)
c.4844T>A (p.Met1615Lys)
 dbSNP gnomAD v4
11g.118503154T>CCA382804876KMT2Ac.7361T>C (p.Met2454Thr)
c.7352T>C (p.Met2451Thr)
c.1301T>C (p.Met434Thr)
c.1559T>C (p.Met520Thr)
c.7334T>C (p.Met2445Thr)
c.7253T>C (p.Met2418Thr)
n.6604T>C
c.7262T>C (p.Met2421Thr)
c.7139T>C (p.Met2380Thr)
n.1389T>C
c.4745T>C (p.Met1582Thr)
c.7358T>C (p.Met2453Thr)
c.5168T>C (p.Met1723Thr)
c.4844T>C (p.Met1615Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.118503154T>GCA382804877KMT2Ac.7361T>G (p.Met2454Arg)
c.7352T>G (p.Met2451Arg)
c.1301T>G (p.Met434Arg)
c.1559T>G (p.Met520Arg)
c.7334T>G (p.Met2445Arg)
c.7253T>G (p.Met2418Arg)
n.6604T>G
c.7262T>G (p.Met2421Arg)
c.7139T>G (p.Met2380Arg)
n.1389T>G
c.4745T>G (p.Met1582Arg)
c.7358T>G (p.Met2453Arg)
c.5168T>G (p.Met1723Arg)
c.4844T>G (p.Met1615Arg)
11g.118503154T=CA2003527489KMT2Ac.7361T= (p.Met2454=)
c.7352T= (p.Met2451=)
c.1301T= (p.Met434=)
c.1559T= (p.Met520=)
c.7334T= (p.Met2445=)
c.7253T= (p.Met2418=)
n.6604T=
c.7262T= (p.Met2421=)
c.7139T= (p.Met2380=)
n.1389T=
c.4745T= (p.Met1582=)
c.7358T= (p.Met2453=)
c.5168T= (p.Met1723=)
c.4844T= (p.Met1615=)
11g.118503155G>ACA382804879KMT2Ac.7362G>A (p.Met2454Ile)
c.7353G>A (p.Met2451Ile)
c.1302G>A (p.Met434Ile)
c.1560G>A (p.Met520Ile)
c.7335G>A (p.Met2445Ile)
c.7254G>A (p.Met2418Ile)
n.6605G>A
c.7263G>A (p.Met2421Ile)
c.7140G>A (p.Met2380Ile)
n.1390G>A
c.4746G>A (p.Met1582Ile)
c.7359G>A (p.Met2453Ile)
c.5169G>A (p.Met1723Ile)
c.4845G>A (p.Met1615Ile)
 dbSNP
11g.118503155G>CCA382804880KMT2Ac.7362G>C (p.Met2454Ile)
c.7353G>C (p.Met2451Ile)
c.1302G>C (p.Met434Ile)
c.1560G>C (p.Met520Ile)
c.7335G>C (p.Met2445Ile)
c.7254G>C (p.Met2418Ile)
n.6605G>C
c.7263G>C (p.Met2421Ile)
c.7140G>C (p.Met2380Ile)
n.1390G>C
c.4746G>C (p.Met1582Ile)
c.7359G>C (p.Met2453Ile)
c.5169G>C (p.Met1723Ile)
c.4845G>C (p.Met1615Ile)
11g.118503155G>TCA382804882KMT2Ac.7362G>T (p.Met2454Ile)
c.7353G>T (p.Met2451Ile)
c.1302G>T (p.Met434Ile)
c.1560G>T (p.Met520Ile)
c.7335G>T (p.Met2445Ile)
c.7254G>T (p.Met2418Ile)
n.6605G>T
c.7263G>T (p.Met2421Ile)
c.7140G>T (p.Met2380Ile)
n.1390G>T
c.4746G>T (p.Met1582Ile)
c.7359G>T (p.Met2453Ile)
c.5169G>T (p.Met1723Ile)
c.4845G>T (p.Met1615Ile)
 gnomAD v4
11g.118503156G>ACA6304380KMT2Ac.7363G>A (p.Gly2455Arg)
c.7354G>A (p.Gly2452Arg)
c.1303G>A (p.Gly435Arg)
c.1561G>A (p.Gly521Arg)
c.7336G>A (p.Gly2446Arg)
c.7255G>A (p.Gly2419Arg)
n.6606G>A
c.7264G>A (p.Gly2422Arg)
c.7141G>A (p.Gly2381Arg)
n.1391G>A
c.4747G>A (p.Gly1583Arg)
c.7360G>A (p.Gly2454Arg)
c.5170G>A (p.Gly1724Arg)
c.4846G>A (p.Gly1616Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503156G>CCA382804885KMT2Ac.7363G>C (p.Gly2455Arg)
c.7354G>C (p.Gly2452Arg)
c.1303G>C (p.Gly435Arg)
c.1561G>C (p.Gly521Arg)
c.7336G>C (p.Gly2446Arg)
c.7255G>C (p.Gly2419Arg)
n.6606G>C
c.7264G>C (p.Gly2422Arg)
c.7141G>C (p.Gly2381Arg)
n.1391G>C
c.4747G>C (p.Gly1583Arg)
c.7360G>C (p.Gly2454Arg)
c.5170G>C (p.Gly1724Arg)
c.4846G>C (p.Gly1616Arg)
 dbSNP
11g.118503156G=CA2003527492KMT2Ac.7363G= (p.Gly2455=)
c.7354G= (p.Gly2452=)
c.1303G= (p.Gly435=)
c.1561G= (p.Gly521=)
c.7336G= (p.Gly2446=)
c.7255G= (p.Gly2419=)
n.6606G=
c.7264G= (p.Gly2422=)
c.7141G= (p.Gly2381=)
n.1391G=
c.4747G= (p.Gly1583=)
c.7360G= (p.Gly2454=)
c.5170G= (p.Gly1724=)
c.4846G= (p.Gly1616=)
11g.118503156G>TCA382804884KMT2Ac.7363G>T (p.Gly2455Ter)
c.7354G>T (p.Gly2452Ter)
c.1303G>T (p.Gly435Ter)
c.1561G>T (p.Gly521Ter)
c.7336G>T (p.Gly2446Ter)
c.7255G>T (p.Gly2419Ter)
n.6606G>T
c.7264G>T (p.Gly2422Ter)
c.7141G>T (p.Gly2381Ter)
n.1391G>T
c.4747G>T (p.Gly1583Ter)
c.7360G>T (p.Gly2454Ter)
c.5170G>T (p.Gly1724Ter)
c.4846G>T (p.Gly1616Ter)
11g.118503157G>ACA382804887KMT2Ac.7364G>A (p.Gly2455Glu)
c.7355G>A (p.Gly2452Glu)
c.1304G>A (p.Gly435Glu)
c.1562G>A (p.Gly521Glu)
c.7337G>A (p.Gly2446Glu)
c.7256G>A (p.Gly2419Glu)
n.6607G>A
c.7265G>A (p.Gly2422Glu)
c.7142G>A (p.Gly2381Glu)
n.1392G>A
c.4748G>A (p.Gly1583Glu)
c.7361G>A (p.Gly2454Glu)
c.5171G>A (p.Gly1724Glu)
c.4847G>A (p.Gly1616Glu)
 dbSNP
11g.118503157G>CCA382804889KMT2Ac.7364G>C (p.Gly2455Ala)
c.7355G>C (p.Gly2452Ala)
c.1304G>C (p.Gly435Ala)
c.1562G>C (p.Gly521Ala)
c.7337G>C (p.Gly2446Ala)
c.7256G>C (p.Gly2419Ala)
n.6607G>C
c.7265G>C (p.Gly2422Ala)
c.7142G>C (p.Gly2381Ala)
n.1392G>C
c.4748G>C (p.Gly1583Ala)
c.7361G>C (p.Gly2454Ala)
c.5171G>C (p.Gly1724Ala)
c.4847G>C (p.Gly1616Ala)
 dbSNP
11g.118503157G>TCA382804890KMT2Ac.7364G>T (p.Gly2455Val)
c.7355G>T (p.Gly2452Val)
c.1304G>T (p.Gly435Val)
c.1562G>T (p.Gly521Val)
c.7337G>T (p.Gly2446Val)
c.7256G>T (p.Gly2419Val)
n.6607G>T
c.7265G>T (p.Gly2422Val)
c.7142G>T (p.Gly2381Val)
n.1392G>T
c.4748G>T (p.Gly1583Val)
c.7361G>T (p.Gly2454Val)
c.5171G>T (p.Gly1724Val)
c.4847G>T (p.Gly1616Val)
11g.118503158A=CA2003527497KMT2Ac.7365A= (p.Gly2455=)
c.7356A= (p.Gly2452=)
c.1305A= (p.Gly435=)
c.1563A= (p.Gly521=)
c.7338A= (p.Gly2446=)
c.7257A= (p.Gly2419=)
n.6608A=
c.7266A= (p.Gly2422=)
c.7143A= (p.Gly2381=)
n.1393A=
c.4749A= (p.Gly1583=)
c.7362A= (p.Gly2454=)
c.5172A= (p.Gly1724=)
c.4848A= (p.Gly1616=)
11g.118503158A>CCA477359255KMT2Ac.7365A>C (p.Gly2455=)
c.7356A>C (p.Gly2452=)
c.1305A>C (p.Gly435=)
c.1563A>C (p.Gly521=)
c.7338A>C (p.Gly2446=)
c.7257A>C (p.Gly2419=)
n.6608A>C
c.7266A>C (p.Gly2422=)
c.7143A>C (p.Gly2381=)
n.1393A>C
c.4749A>C (p.Gly1583=)
c.7362A>C (p.Gly2454=)
c.5172A>C (p.Gly1724=)
c.4848A>C (p.Gly1616=)
11g.118503158A>GCA477359256KMT2Ac.7365A>G (p.Gly2455=)
c.7356A>G (p.Gly2452=)
c.1305A>G (p.Gly435=)
c.1563A>G (p.Gly521=)
c.7338A>G (p.Gly2446=)
c.7257A>G (p.Gly2419=)
n.6608A>G
c.7266A>G (p.Gly2422=)
c.7143A>G (p.Gly2381=)
n.1393A>G
c.4749A>G (p.Gly1583=)
c.7362A>G (p.Gly2454=)
c.5172A>G (p.Gly1724=)
c.4848A>G (p.Gly1616=)
11g.118503158A>TCA477359257KMT2Ac.7365A>T (p.Gly2455=)
c.7356A>T (p.Gly2452=)
c.1305A>T (p.Gly435=)
c.1563A>T (p.Gly521=)
c.7338A>T (p.Gly2446=)
c.7257A>T (p.Gly2419=)
n.6608A>T
c.7266A>T (p.Gly2422=)
c.7143A>T (p.Gly2381=)
n.1393A>T
c.4749A>T (p.Gly1583=)
c.7362A>T (p.Gly2454=)
c.5172A>T (p.Gly1724=)
c.4848A>T (p.Gly1616=)
 dbSNP
11g.118503159T>ACA382804892KMT2Ac.7366T>A (p.Ser2456Thr)
c.7357T>A (p.Ser2453Thr)
c.1306T>A (p.Ser436Thr)
c.1564T>A (p.Ser522Thr)
c.7339T>A (p.Ser2447Thr)
c.7258T>A (p.Ser2420Thr)
n.6609T>A
c.7267T>A (p.Ser2423Thr)
c.7144T>A (p.Ser2382Thr)
n.1394T>A
c.4750T>A (p.Ser1584Thr)
c.7363T>A (p.Ser2455Thr)
c.5173T>A (p.Ser1725Thr)
c.4849T>A (p.Ser1617Thr)
 ClinVar
11g.118503159T>CCA382804893KMT2Ac.7366T>C (p.Ser2456Pro)
c.7357T>C (p.Ser2453Pro)
c.1306T>C (p.Ser436Pro)
c.1564T>C (p.Ser522Pro)
c.7339T>C (p.Ser2447Pro)
c.7258T>C (p.Ser2420Pro)
n.6609T>C
c.7267T>C (p.Ser2423Pro)
c.7144T>C (p.Ser2382Pro)
n.1394T>C
c.4750T>C (p.Ser1584Pro)
c.7363T>C (p.Ser2455Pro)
c.5173T>C (p.Ser1725Pro)
c.4849T>C (p.Ser1617Pro)
11g.118503159T>GCA382804895KMT2Ac.7366T>G (p.Ser2456Ala)
c.7357T>G (p.Ser2453Ala)
c.1306T>G (p.Ser436Ala)
c.1564T>G (p.Ser522Ala)
c.7339T>G (p.Ser2447Ala)
c.7258T>G (p.Ser2420Ala)
n.6609T>G
c.7267T>G (p.Ser2423Ala)
c.7144T>G (p.Ser2382Ala)
n.1394T>G
c.4750T>G (p.Ser1584Ala)
c.7363T>G (p.Ser2455Ala)
c.5173T>G (p.Ser1725Ala)
c.4849T>G (p.Ser1617Ala)
11g.118503160C>ACA382804897KMT2Ac.7367C>A (p.Ser2456Tyr)
c.7358C>A (p.Ser2453Tyr)
c.1307C>A (p.Ser436Tyr)
c.1565C>A (p.Ser522Tyr)
c.7340C>A (p.Ser2447Tyr)
c.7259C>A (p.Ser2420Tyr)
n.6610C>A
c.7268C>A (p.Ser2423Tyr)
c.7145C>A (p.Ser2382Tyr)
n.1395C>A
c.4751C>A (p.Ser1584Tyr)
c.7364C>A (p.Ser2455Tyr)
c.5174C>A (p.Ser1725Tyr)
c.4850C>A (p.Ser1617Tyr)
 gnomAD v4
11g.118503160C>GCA382804899KMT2Ac.7367C>G (p.Ser2456Cys)
c.7358C>G (p.Ser2453Cys)
c.1307C>G (p.Ser436Cys)
c.1565C>G (p.Ser522Cys)
c.7340C>G (p.Ser2447Cys)
c.7259C>G (p.Ser2420Cys)
n.6610C>G
c.7268C>G (p.Ser2423Cys)
c.7145C>G (p.Ser2382Cys)
n.1395C>G
c.4751C>G (p.Ser1584Cys)
c.7364C>G (p.Ser2455Cys)
c.5174C>G (p.Ser1725Cys)
c.4850C>G (p.Ser1617Cys)
 dbSNP
11g.118503160C>TCA382804900KMT2Ac.7367C>T (p.Ser2456Phe)
c.7358C>T (p.Ser2453Phe)
c.1307C>T (p.Ser436Phe)
c.1565C>T (p.Ser522Phe)
c.7340C>T (p.Ser2447Phe)
c.7259C>T (p.Ser2420Phe)
n.6610C>T
c.7268C>T (p.Ser2423Phe)
c.7145C>T (p.Ser2382Phe)
n.1395C>T
c.4751C>T (p.Ser1584Phe)
c.7364C>T (p.Ser2455Phe)
c.5174C>T (p.Ser1725Phe)
c.4850C>T (p.Ser1617Phe)
 dbSNP
11g.118503161T>ACA477359259KMT2Ac.7368T>A (p.Ser2456=)
c.7359T>A (p.Ser2453=)
c.1308T>A (p.Ser436=)
c.1566T>A (p.Ser522=)
c.7341T>A (p.Ser2447=)
c.7260T>A (p.Ser2420=)
n.6611T>A
c.7269T>A (p.Ser2423=)
c.7146T>A (p.Ser2382=)
n.1396T>A
c.4752T>A (p.Ser1584=)
c.7365T>A (p.Ser2455=)
c.5175T>A (p.Ser1725=)
c.4851T>A (p.Ser1617=)
 dbSNP
11g.118503161T>CCA477359260KMT2Ac.7368T>C (p.Ser2456=)
c.7359T>C (p.Ser2453=)
c.1308T>C (p.Ser436=)
c.1566T>C (p.Ser522=)
c.7341T>C (p.Ser2447=)
c.7260T>C (p.Ser2420=)
n.6611T>C
c.7269T>C (p.Ser2423=)
c.7146T>C (p.Ser2382=)
n.1396T>C
c.4752T>C (p.Ser1584=)
c.7365T>C (p.Ser2455=)
c.5175T>C (p.Ser1725=)
c.4851T>C (p.Ser1617=)
 dbSNP
11g.118503161T>GCA477359261KMT2Ac.7368T>G (p.Ser2456=)
c.7359T>G (p.Ser2453=)
c.1308T>G (p.Ser436=)
c.1566T>G (p.Ser522=)
c.7341T>G (p.Ser2447=)
c.7260T>G (p.Ser2420=)
n.6611T>G
c.7269T>G (p.Ser2423=)
c.7146T>G (p.Ser2382=)
n.1396T>G
c.4752T>G (p.Ser1584=)
c.7365T>G (p.Ser2455=)
c.5175T>G (p.Ser1725=)
c.4851T>G (p.Ser1617=)
11g.118503162A>CCA382804901KMT2Ac.7369A>C (p.Ser2457Arg)
c.7360A>C (p.Ser2454Arg)
c.1309A>C (p.Ser437Arg)
c.1567A>C (p.Ser523Arg)
c.7342A>C (p.Ser2448Arg)
c.7261A>C (p.Ser2421Arg)
n.6612A>C
c.7270A>C (p.Ser2424Arg)
c.7147A>C (p.Ser2383Arg)
n.1397A>C
c.4753A>C (p.Ser1585Arg)
c.7366A>C (p.Ser2456Arg)
c.5176A>C (p.Ser1726Arg)
c.4852A>C (p.Ser1618Arg)
11g.118503162A>GCA382804902KMT2Ac.7369A>G (p.Ser2457Gly)
c.7360A>G (p.Ser2454Gly)
c.1309A>G (p.Ser437Gly)
c.1567A>G (p.Ser523Gly)
c.7342A>G (p.Ser2448Gly)
c.7261A>G (p.Ser2421Gly)
n.6612A>G
c.7270A>G (p.Ser2424Gly)
c.7147A>G (p.Ser2383Gly)
n.1397A>G
c.4753A>G (p.Ser1585Gly)
c.7366A>G (p.Ser2456Gly)
c.5176A>G (p.Ser1726Gly)
c.4852A>G (p.Ser1618Gly)
11g.118503162A>TCA382804903KMT2Ac.7369A>T (p.Ser2457Cys)
c.7360A>T (p.Ser2454Cys)
c.1309A>T (p.Ser437Cys)
c.1567A>T (p.Ser523Cys)
c.7342A>T (p.Ser2448Cys)
c.7261A>T (p.Ser2421Cys)
n.6612A>T
c.7270A>T (p.Ser2424Cys)
c.7147A>T (p.Ser2383Cys)
n.1397A>T
c.4753A>T (p.Ser1585Cys)
c.7366A>T (p.Ser2456Cys)
c.5176A>T (p.Ser1726Cys)
c.4852A>T (p.Ser1618Cys)
11g.118503163G>ACA382804909KMT2Ac.7370G>A (p.Ser2457Asn)
c.7361G>A (p.Ser2454Asn)
c.1310G>A (p.Ser437Asn)
c.1568G>A (p.Ser523Asn)
c.7343G>A (p.Ser2448Asn)
c.7262G>A (p.Ser2421Asn)
n.6613G>A
c.7271G>A (p.Ser2424Asn)
c.7148G>A (p.Ser2383Asn)
n.1398G>A
c.4754G>A (p.Ser1585Asn)
c.7367G>A (p.Ser2456Asn)
c.5177G>A (p.Ser1726Asn)
c.4853G>A (p.Ser1618Asn)
 dbSNP
11g.118503163G>CCA382804907KMT2Ac.7370G>C (p.Ser2457Thr)
c.7361G>C (p.Ser2454Thr)
c.1310G>C (p.Ser437Thr)
c.1568G>C (p.Ser523Thr)
c.7343G>C (p.Ser2448Thr)
c.7262G>C (p.Ser2421Thr)
n.6613G>C
c.7271G>C (p.Ser2424Thr)
c.7148G>C (p.Ser2383Thr)
n.1398G>C
c.4754G>C (p.Ser1585Thr)
c.7367G>C (p.Ser2456Thr)
c.5177G>C (p.Ser1726Thr)
c.4853G>C (p.Ser1618Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503163G=CA2003527499KMT2Ac.7370G= (p.Ser2457=)
c.7361G= (p.Ser2454=)
c.1310G= (p.Ser437=)
c.1568G= (p.Ser523=)
c.7343G= (p.Ser2448=)
c.7262G= (p.Ser2421=)
n.6613G=
c.7271G= (p.Ser2424=)
c.7148G= (p.Ser2383=)
n.1398G=
c.4754G= (p.Ser1585=)
c.7367G= (p.Ser2456=)
c.5177G= (p.Ser1726=)
c.4853G= (p.Ser1618=)
11g.118503163G>TCA382804905KMT2Ac.7370G>T (p.Ser2457Ile)
c.7361G>T (p.Ser2454Ile)
c.1310G>T (p.Ser437Ile)
c.1568G>T (p.Ser523Ile)
c.7343G>T (p.Ser2448Ile)
c.7262G>T (p.Ser2421Ile)
n.6613G>T
c.7271G>T (p.Ser2424Ile)
c.7148G>T (p.Ser2383Ile)
n.1398G>T
c.4754G>T (p.Ser1585Ile)
c.7367G>T (p.Ser2456Ile)
c.5177G>T (p.Ser1726Ile)
c.4853G>T (p.Ser1618Ile)
11g.118503164T>ACA382804910KMT2Ac.7371T>A (p.Ser2457Arg)
c.7362T>A (p.Ser2454Arg)
c.1311T>A (p.Ser437Arg)
c.1569T>A (p.Ser523Arg)
c.7344T>A (p.Ser2448Arg)
c.7263T>A (p.Ser2421Arg)
n.6614T>A
c.7272T>A (p.Ser2424Arg)
c.7149T>A (p.Ser2383Arg)
n.1399T>A
c.4755T>A (p.Ser1585Arg)
c.7368T>A (p.Ser2456Arg)
c.5178T>A (p.Ser1726Arg)
c.4854T>A (p.Ser1618Arg)
11g.118503164T>CCA477359262KMT2Ac.7371T>C (p.Ser2457=)
c.7362T>C (p.Ser2454=)
c.1311T>C (p.Ser437=)
c.1569T>C (p.Ser523=)
c.7344T>C (p.Ser2448=)
c.7263T>C (p.Ser2421=)
n.6614T>C
c.7272T>C (p.Ser2424=)
c.7149T>C (p.Ser2383=)
n.1399T>C
c.4755T>C (p.Ser1585=)
c.7368T>C (p.Ser2456=)
c.5178T>C (p.Ser1726=)
c.4854T>C (p.Ser1618=)
 ClinVar dbSNP gnomAD v4
11g.118503164T>GCA382804912KMT2Ac.7371T>G (p.Ser2457Arg)
c.7362T>G (p.Ser2454Arg)
c.1311T>G (p.Ser437Arg)
c.1569T>G (p.Ser523Arg)
c.7344T>G (p.Ser2448Arg)
c.7263T>G (p.Ser2421Arg)
n.6614T>G
c.7272T>G (p.Ser2424Arg)
c.7149T>G (p.Ser2383Arg)
n.1399T>G
c.4755T>G (p.Ser1585Arg)
c.7368T>G (p.Ser2456Arg)
c.5178T>G (p.Ser1726Arg)
c.4854T>G (p.Ser1618Arg)
11g.118503165T>ACA382804914KMT2Ac.7372T>A (p.Ser2458Thr)
c.7363T>A (p.Ser2455Thr)
c.1312T>A (p.Ser438Thr)
c.1570T>A (p.Ser524Thr)
c.7345T>A (p.Ser2449Thr)
c.7264T>A (p.Ser2422Thr)
n.6615T>A
c.7273T>A (p.Ser2425Thr)
c.7150T>A (p.Ser2384Thr)
n.1400T>A
c.4756T>A (p.Ser1586Thr)
c.7369T>A (p.Ser2457Thr)
c.5179T>A (p.Ser1727Thr)
c.4855T>A (p.Ser1619Thr)
11g.118503165T>CCA382804915KMT2Ac.7372T>C (p.Ser2458Pro)
c.7363T>C (p.Ser2455Pro)
c.1312T>C (p.Ser438Pro)
c.1570T>C (p.Ser524Pro)
c.7345T>C (p.Ser2449Pro)
c.7264T>C (p.Ser2422Pro)
n.6615T>C
c.7273T>C (p.Ser2425Pro)
c.7150T>C (p.Ser2384Pro)
n.1400T>C
c.4756T>C (p.Ser1586Pro)
c.7369T>C (p.Ser2457Pro)
c.5179T>C (p.Ser1727Pro)
c.4855T>C (p.Ser1619Pro)
11g.118503165T>GCA382804917KMT2Ac.7372T>G (p.Ser2458Ala)
c.7363T>G (p.Ser2455Ala)
c.1312T>G (p.Ser438Ala)
c.1570T>G (p.Ser524Ala)
c.7345T>G (p.Ser2449Ala)
c.7264T>G (p.Ser2422Ala)
n.6615T>G
c.7273T>G (p.Ser2425Ala)
c.7150T>G (p.Ser2384Ala)
n.1400T>G
c.4756T>G (p.Ser1586Ala)
c.7369T>G (p.Ser2457Ala)
c.5179T>G (p.Ser1727Ala)
c.4855T>G (p.Ser1619Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503165T=CA2003527502KMT2Ac.7372T= (p.Ser2458=)
c.7363T= (p.Ser2455=)
c.1312T= (p.Ser438=)
c.1570T= (p.Ser524=)
c.7345T= (p.Ser2449=)
c.7264T= (p.Ser2422=)
n.6615T=
c.7273T= (p.Ser2425=)
c.7150T= (p.Ser2384=)
n.1400T=
c.4756T= (p.Ser1586=)
c.7369T= (p.Ser2457=)
c.5179T= (p.Ser1727=)
c.4855T= (p.Ser1619=)
11g.118503166C>ACA382804919KMT2Ac.7373C>A (p.Ser2458Tyr)
c.7364C>A (p.Ser2455Tyr)
c.1313C>A (p.Ser438Tyr)
c.1571C>A (p.Ser524Tyr)
c.7346C>A (p.Ser2449Tyr)
c.7265C>A (p.Ser2422Tyr)
n.6616C>A
c.7274C>A (p.Ser2425Tyr)
c.7151C>A (p.Ser2384Tyr)
n.1401C>A
c.4757C>A (p.Ser1586Tyr)
c.7370C>A (p.Ser2457Tyr)
c.5180C>A (p.Ser1727Tyr)
c.4856C>A (p.Ser1619Tyr)
 dbSNP
11g.118503166C>GCA382804920KMT2Ac.7373C>G (p.Ser2458Cys)
c.7364C>G (p.Ser2455Cys)
c.1313C>G (p.Ser438Cys)
c.1571C>G (p.Ser524Cys)
c.7346C>G (p.Ser2449Cys)
c.7265C>G (p.Ser2422Cys)
n.6616C>G
c.7274C>G (p.Ser2425Cys)
c.7151C>G (p.Ser2384Cys)
n.1401C>G
c.4757C>G (p.Ser1586Cys)
c.7370C>G (p.Ser2457Cys)
c.5180C>G (p.Ser1727Cys)
c.4856C>G (p.Ser1619Cys)
 dbSNP
11g.118503166C>TCA382804922KMT2Ac.7373C>T (p.Ser2458Phe)
c.7364C>T (p.Ser2455Phe)
c.1313C>T (p.Ser438Phe)
c.1571C>T (p.Ser524Phe)
c.7346C>T (p.Ser2449Phe)
c.7265C>T (p.Ser2422Phe)
n.6616C>T
c.7274C>T (p.Ser2425Phe)
c.7151C>T (p.Ser2384Phe)
n.1401C>T
c.4757C>T (p.Ser1586Phe)
c.7370C>T (p.Ser2457Phe)
c.5180C>T (p.Ser1727Phe)
c.4856C>T (p.Ser1619Phe)
 COSMIC COSMIC
11g.118503167delCA2725086116KMT2Ac.7374del (p.Arg2459GlufsTer?)
c.7365del (p.Arg2456GlufsTer?)
c.1314del (p.Arg439GlufsTer?)
c.1572del (p.Arg525GlufsTer?)
c.7347del (p.Arg2450GlufsTer?)
c.7266del (p.Arg2423GlufsTer?)
n.6617del
c.7275del (p.Arg2426GlufsTer?)
c.7152del (p.Arg2385GlufsTer?)
n.1402del
c.4758del (p.Arg1587GlufsTer?)
c.7371del (p.Arg2458GlufsTer?)
c.5181del (p.Arg1728GlufsTer?)
c.4857del (p.Arg1620GlufsTer?)
 dbSNP
11g.118503167C>ACA477359264KMT2Ac.7374C>A (p.Ser2458=)
c.7365C>A (p.Ser2455=)
c.1314C>A (p.Ser438=)
c.1572C>A (p.Ser524=)
c.7347C>A (p.Ser2449=)
c.7266C>A (p.Ser2422=)
n.6617C>A
c.7275C>A (p.Ser2425=)
c.7152C>A (p.Ser2384=)
n.1402C>A
c.4758C>A (p.Ser1586=)
c.7371C>A (p.Ser2457=)
c.5181C>A (p.Ser1727=)
c.4857C>A (p.Ser1619=)
11g.118503167C>GCA477359265KMT2Ac.7374C>G (p.Ser2458=)
c.7365C>G (p.Ser2455=)
c.1314C>G (p.Ser438=)
c.1572C>G (p.Ser524=)
c.7347C>G (p.Ser2449=)
c.7266C>G (p.Ser2422=)
n.6617C>G
c.7275C>G (p.Ser2425=)
c.7152C>G (p.Ser2384=)
n.1402C>G
c.4758C>G (p.Ser1586=)
c.7371C>G (p.Ser2457=)
c.5181C>G (p.Ser1727=)
c.4857C>G (p.Ser1619=)
 dbSNP
11g.118503167C>TCA477359266KMT2Ac.7374C>T (p.Ser2458=)
c.7365C>T (p.Ser2455=)
c.1314C>T (p.Ser438=)
c.1572C>T (p.Ser524=)
c.7347C>T (p.Ser2449=)
c.7266C>T (p.Ser2422=)
n.6617C>T
c.7275C>T (p.Ser2425=)
c.7152C>T (p.Ser2384=)
n.1402C>T
c.4758C>T (p.Ser1586=)
c.7371C>T (p.Ser2457=)
c.5181C>T (p.Ser1727=)
c.4857C>T (p.Ser1619=)
 gnomAD v4
11g.118503168A>CCA477359267KMT2Ac.7375A>C (p.Arg2459=)
c.7366A>C (p.Arg2456=)
c.1315A>C (p.Arg439=)
c.1573A>C (p.Arg525=)
c.7348A>C (p.Arg2450=)
c.7267A>C (p.Arg2423=)
n.6618A>C
c.7276A>C (p.Arg2426=)
c.7153A>C (p.Arg2385=)
n.1403A>C
c.4759A>C (p.Arg1587=)
c.7372A>C (p.Arg2458=)
c.5182A>C (p.Arg1728=)
c.4858A>C (p.Arg1620=)
11g.118503168A>GCA382804924KMT2Ac.7375A>G (p.Arg2459Gly)
c.7366A>G (p.Arg2456Gly)
c.1315A>G (p.Arg439Gly)
c.1573A>G (p.Arg525Gly)
c.7348A>G (p.Arg2450Gly)
c.7267A>G (p.Arg2423Gly)
n.6618A>G
c.7276A>G (p.Arg2426Gly)
c.7153A>G (p.Arg2385Gly)
n.1403A>G
c.4759A>G (p.Arg1587Gly)
c.7372A>G (p.Arg2458Gly)
c.5182A>G (p.Arg1728Gly)
c.4858A>G (p.Arg1620Gly)
11g.118503168A>TCA382804925KMT2Ac.7375A>T (p.Arg2459Ter)
c.7366A>T (p.Arg2456Ter)
c.1315A>T (p.Arg439Ter)
c.1573A>T (p.Arg525Ter)
c.7348A>T (p.Arg2450Ter)
c.7267A>T (p.Arg2423Ter)
n.6618A>T
c.7276A>T (p.Arg2426Ter)
c.7153A>T (p.Arg2385Ter)
n.1403A>T
c.4759A>T (p.Arg1587Ter)
c.7372A>T (p.Arg2458Ter)
c.5182A>T (p.Arg1728Ter)
c.4858A>T (p.Arg1620Ter)
11g.118503169G>ACA382804927KMT2Ac.7376G>A (p.Arg2459Lys)
c.7367G>A (p.Arg2456Lys)
c.1316G>A (p.Arg439Lys)
c.1574G>A (p.Arg525Lys)
c.7349G>A (p.Arg2450Lys)
c.7268G>A (p.Arg2423Lys)
n.6619G>A
c.7277G>A (p.Arg2426Lys)
c.7154G>A (p.Arg2385Lys)
n.1404G>A
c.4760G>A (p.Arg1587Lys)
c.7373G>A (p.Arg2458Lys)
c.5183G>A (p.Arg1728Lys)
c.4859G>A (p.Arg1620Lys)
 dbSNP
11g.118503169G>CCA382804929KMT2Ac.7376G>C (p.Arg2459Thr)
c.7367G>C (p.Arg2456Thr)
c.1316G>C (p.Arg439Thr)
c.1574G>C (p.Arg525Thr)
c.7349G>C (p.Arg2450Thr)
c.7268G>C (p.Arg2423Thr)
n.6619G>C
c.7277G>C (p.Arg2426Thr)
c.7154G>C (p.Arg2385Thr)
n.1404G>C
c.4760G>C (p.Arg1587Thr)
c.7373G>C (p.Arg2458Thr)
c.5183G>C (p.Arg1728Thr)
c.4859G>C (p.Arg1620Thr)
11g.118503169G>TCA382804930KMT2Ac.7376G>T (p.Arg2459Ile)
c.7367G>T (p.Arg2456Ile)
c.1316G>T (p.Arg439Ile)
c.1574G>T (p.Arg525Ile)
c.7349G>T (p.Arg2450Ile)
c.7268G>T (p.Arg2423Ile)
n.6619G>T
c.7277G>T (p.Arg2426Ile)
c.7154G>T (p.Arg2385Ile)
n.1404G>T
c.4760G>T (p.Arg1587Ile)
c.7373G>T (p.Arg2458Ile)
c.5183G>T (p.Arg1728Ile)
c.4859G>T (p.Arg1620Ile)
11g.118503170A>CCA382804934KMT2Ac.7377A>C (p.Arg2459Ser)
c.7368A>C (p.Arg2456Ser)
c.1317A>C (p.Arg439Ser)
c.1575A>C (p.Arg525Ser)
c.7350A>C (p.Arg2450Ser)
c.7269A>C (p.Arg2423Ser)
n.6620A>C
c.7278A>C (p.Arg2426Ser)
c.7155A>C (p.Arg2385Ser)
n.1405A>C
c.4761A>C (p.Arg1587Ser)
c.7374A>C (p.Arg2458Ser)
c.5184A>C (p.Arg1728Ser)
c.4860A>C (p.Arg1620Ser)
11g.118503170A>GCA477359269KMT2Ac.7377A>G (p.Arg2459=)
c.7368A>G (p.Arg2456=)
c.1317A>G (p.Arg439=)
c.1575A>G (p.Arg525=)
c.7350A>G (p.Arg2450=)
c.7269A>G (p.Arg2423=)
n.6620A>G
c.7278A>G (p.Arg2426=)
c.7155A>G (p.Arg2385=)
n.1405A>G
c.4761A>G (p.Arg1587=)
c.7374A>G (p.Arg2458=)
c.5184A>G (p.Arg1728=)
c.4860A>G (p.Arg1620=)
11g.118503170A>TCA382804932KMT2Ac.7377A>T (p.Arg2459Ser)
c.7368A>T (p.Arg2456Ser)
c.1317A>T (p.Arg439Ser)
c.1575A>T (p.Arg525Ser)
c.7350A>T (p.Arg2450Ser)
c.7269A>T (p.Arg2423Ser)
n.6620A>T
c.7278A>T (p.Arg2426Ser)
c.7155A>T (p.Arg2385Ser)
n.1405A>T
c.4761A>T (p.Arg1587Ser)
c.7374A>T (p.Arg2458Ser)
c.5184A>T (p.Arg1728Ser)
c.4860A>T (p.Arg1620Ser)
11g.118503171G>ACA382804936KMT2Ac.7378G>A (p.Asp2460Asn)
c.7369G>A (p.Asp2457Asn)
c.1318G>A (p.Asp440Asn)
c.1576G>A (p.Asp526Asn)
c.7351G>A (p.Asp2451Asn)
c.7270G>A (p.Asp2424Asn)
n.6621G>A
c.7279G>A (p.Asp2427Asn)
c.7156G>A (p.Asp2386Asn)
n.1406G>A
c.4762G>A (p.Asp1588Asn)
c.7375G>A (p.Asp2459Asn)
c.5185G>A (p.Asp1729Asn)
c.4861G>A (p.Asp1621Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.118503171G>CCA382804937KMT2Ac.7378G>C (p.Asp2460His)
c.7369G>C (p.Asp2457His)
c.1318G>C (p.Asp440His)
c.1576G>C (p.Asp526His)
c.7351G>C (p.Asp2451His)
c.7270G>C (p.Asp2424His)
n.6621G>C
c.7279G>C (p.Asp2427His)
c.7156G>C (p.Asp2386His)
n.1406G>C
c.4762G>C (p.Asp1588His)
c.7375G>C (p.Asp2459His)
c.5185G>C (p.Asp1729His)
c.4861G>C (p.Asp1621His)
11g.118503171G=CA2003527507KMT2Ac.7378G= (p.Asp2460=)
c.7369G= (p.Asp2457=)
c.1318G= (p.Asp440=)
c.1576G= (p.Asp526=)
c.7351G= (p.Asp2451=)
c.7270G= (p.Asp2424=)
n.6621G=
c.7279G= (p.Asp2427=)
c.7156G= (p.Asp2386=)
n.1406G=
c.4762G= (p.Asp1588=)
c.7375G= (p.Asp2459=)
c.5185G= (p.Asp1729=)
c.4861G= (p.Asp1621=)
11g.118503171G>TCA382804938KMT2Ac.7378G>T (p.Asp2460Tyr)
c.7369G>T (p.Asp2457Tyr)
c.1318G>T (p.Asp440Tyr)
c.1576G>T (p.Asp526Tyr)
c.7351G>T (p.Asp2451Tyr)
c.7270G>T (p.Asp2424Tyr)
n.6621G>T
c.7279G>T (p.Asp2427Tyr)
c.7156G>T (p.Asp2386Tyr)
n.1406G>T
c.4762G>T (p.Asp1588Tyr)
c.7375G>T (p.Asp2459Tyr)
c.5185G>T (p.Asp1729Tyr)
c.4861G>T (p.Asp1621Tyr)
11g.118503172A=CA2003527511KMT2Ac.7379A= (p.Asp2460=)
c.7370A= (p.Asp2457=)
c.1319A= (p.Asp440=)
c.1577A= (p.Asp526=)
c.7352A= (p.Asp2451=)
c.7271A= (p.Asp2424=)
n.6622A=
c.7280A= (p.Asp2427=)
c.7157A= (p.Asp2386=)
n.1407A=
c.4763A= (p.Asp1588=)
c.7376A= (p.Asp2459=)
c.5186A= (p.Asp1729=)
c.4862A= (p.Asp1621=)
11g.118503172A>CCA382804941KMT2Ac.7379A>C (p.Asp2460Ala)
c.7370A>C (p.Asp2457Ala)
c.1319A>C (p.Asp440Ala)
c.1577A>C (p.Asp526Ala)
c.7352A>C (p.Asp2451Ala)
c.7271A>C (p.Asp2424Ala)
n.6622A>C
c.7280A>C (p.Asp2427Ala)
c.7157A>C (p.Asp2386Ala)
n.1407A>C
c.4763A>C (p.Asp1588Ala)
c.7376A>C (p.Asp2459Ala)
c.5186A>C (p.Asp1729Ala)
c.4862A>C (p.Asp1621Ala)
11g.118503172A>GCA382804942KMT2Ac.7379A>G (p.Asp2460Gly)
c.7370A>G (p.Asp2457Gly)
c.1319A>G (p.Asp440Gly)
c.1577A>G (p.Asp526Gly)
c.7352A>G (p.Asp2451Gly)
c.7271A>G (p.Asp2424Gly)
n.6622A>G
c.7280A>G (p.Asp2427Gly)
c.7157A>G (p.Asp2386Gly)
n.1407A>G
c.4763A>G (p.Asp1588Gly)
c.7376A>G (p.Asp2459Gly)
c.5186A>G (p.Asp1729Gly)
c.4862A>G (p.Asp1621Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118503172A>TCA382804944KMT2Ac.7379A>T (p.Asp2460Val)
c.7370A>T (p.Asp2457Val)
c.1319A>T (p.Asp440Val)
c.1577A>T (p.Asp526Val)
c.7352A>T (p.Asp2451Val)
c.7271A>T (p.Asp2424Val)
n.6622A>T
c.7280A>T (p.Asp2427Val)
c.7157A>T (p.Asp2386Val)
n.1407A>T
c.4763A>T (p.Asp1588Val)
c.7376A>T (p.Asp2459Val)
c.5186A>T (p.Asp1729Val)
c.4862A>T (p.Asp1621Val)
11g.118503173T>ACA382804945KMT2Ac.7380T>A (p.Asp2460Glu)
c.7371T>A (p.Asp2457Glu)
c.1320T>A (p.Asp440Glu)
c.1578T>A (p.Asp526Glu)
c.7353T>A (p.Asp2451Glu)
c.7272T>A (p.Asp2424Glu)
n.6623T>A
c.7281T>A (p.Asp2427Glu)
c.7158T>A (p.Asp2386Glu)
n.1408T>A
c.4764T>A (p.Asp1588Glu)
c.7377T>A (p.Asp2459Glu)
c.5187T>A (p.Asp1729Glu)
c.4863T>A (p.Asp1621Glu)
11g.118503173T>CCA477359273KMT2Ac.7380T>C (p.Asp2460=)
c.7371T>C (p.Asp2457=)
c.1320T>C (p.Asp440=)
c.1578T>C (p.Asp526=)
c.7353T>C (p.Asp2451=)
c.7272T>C (p.Asp2424=)
n.6623T>C
c.7281T>C (p.Asp2427=)
c.7158T>C (p.Asp2386=)
n.1408T>C
c.4764T>C (p.Asp1588=)
c.7377T>C (p.Asp2459=)
c.5187T>C (p.Asp1729=)
c.4863T>C (p.Asp1621=)
 dbSNP gnomAD v2 gnomAD v4
11g.118503173T>GCA382804947KMT2Ac.7380T>G (p.Asp2460Glu)
c.7371T>G (p.Asp2457Glu)
c.1320T>G (p.Asp440Glu)
c.1578T>G (p.Asp526Glu)
c.7353T>G (p.Asp2451Glu)
c.7272T>G (p.Asp2424Glu)
n.6623T>G
c.7281T>G (p.Asp2427Glu)
c.7158T>G (p.Asp2386Glu)
n.1408T>G
c.4764T>G (p.Asp1588Glu)
c.7377T>G (p.Asp2459Glu)
c.5187T>G (p.Asp1729Glu)
c.4863T>G (p.Asp1621Glu)
11g.118503173T=CA2003527516KMT2Ac.7380T= (p.Asp2460=)
c.7371T= (p.Asp2457=)
c.1320T= (p.Asp440=)
c.1578T= (p.Asp526=)
c.7353T= (p.Asp2451=)
c.7272T= (p.Asp2424=)
n.6623T=
c.7281T= (p.Asp2427=)
c.7158T= (p.Asp2386=)
n.1408T=
c.4764T= (p.Asp1588=)
c.7377T= (p.Asp2459=)
c.5187T= (p.Asp1729=)
c.4863T= (p.Asp1621=)
11g.118503173_118503176delinsTAGGCA2003527514KMT2Ac.7380_7383delinsTAGG (p.Asp2460=)
c.7371_7374delinsTAGG (p.Asp2457=)
c.1320_1323delinsTAGG (p.Asp440=)
c.1578_1581delinsTAGG (p.Asp526=)
c.7353_7356delinsTAGG (p.Asp2451=)
c.7272_7275delinsTAGG (p.Asp2424=)
n.6623_6626delinsTAGG
c.7281_7284delinsTAGG (p.Asp2427=)
c.7158_7161delinsTAGG (p.Asp2386=)
n.1408_1411delinsTAGG
c.4764_4767delinsTAGG (p.Asp1588=)
c.7377_7380delinsTAGG (p.Asp2459=)
c.5187_5190delinsTAGG (p.Asp1729=)
c.4863_4866delinsTAGG (p.Asp1621=)
11g.118503174A>CCA477359274KMT2Ac.7381A>C (p.Arg2461=)
c.7372A>C (p.Arg2458=)
c.1321A>C (p.Arg441=)
c.1579A>C (p.Arg527=)
c.7354A>C (p.Arg2452=)
c.7273A>C (p.Arg2425=)
n.6624A>C
c.7282A>C (p.Arg2428=)
c.7159A>C (p.Arg2387=)
n.1409A>C
c.4765A>C (p.Arg1589=)
c.7378A>C (p.Arg2460=)
c.5188A>C (p.Arg1730=)
c.4864A>C (p.Arg1622=)
11g.118503174A>GCA382804949KMT2Ac.7381A>G (p.Arg2461Gly)
c.7372A>G (p.Arg2458Gly)
c.1321A>G (p.Arg441Gly)
c.1579A>G (p.Arg527Gly)
c.7354A>G (p.Arg2452Gly)
c.7273A>G (p.Arg2425Gly)
n.6624A>G
c.7282A>G (p.Arg2428Gly)
c.7159A>G (p.Arg2387Gly)
n.1409A>G
c.4765A>G (p.Arg1589Gly)
c.7378A>G (p.Arg2460Gly)
c.5188A>G (p.Arg1730Gly)
c.4864A>G (p.Arg1622Gly)
11g.118503174A>TCA382804950KMT2Ac.7381A>T (p.Arg2461Trp)
c.7372A>T (p.Arg2458Trp)
c.1321A>T (p.Arg441Trp)
c.1579A>T (p.Arg527Trp)
c.7354A>T (p.Arg2452Trp)
c.7273A>T (p.Arg2425Trp)
n.6624A>T
c.7282A>T (p.Arg2428Trp)
c.7159A>T (p.Arg2387Trp)
n.1409A>T
c.4765A>T (p.Arg1589Trp)
c.7378A>T (p.Arg2460Trp)
c.5188A>T (p.Arg1730Trp)
c.4864A>T (p.Arg1622Trp)
11g.118503176_118503178delCA2003527522KMT2Ac.7383_7385del (p.Arg2462del)
c.7374_7376del (p.Arg2459del)
c.1323_1325del (p.Arg442del)
c.1581_1583del (p.Arg528del)
c.7356_7358del (p.Arg2453del)
c.7275_7277del (p.Arg2426del)
n.6626_6628del
c.7284_7286del (p.Arg2429del)
c.7161_7163del (p.Arg2388del)
n.1411_1413del
c.4767_4769del (p.Arg1590del)
c.7380_7382del (p.Arg2461del)
c.5190_5192del (p.Arg1731del)
c.4866_4868del (p.Arg1623del)
 dbSNP
11g.118503175G>ACA382804952KMT2Ac.7382G>A (p.Arg2461Lys)
c.7373G>A (p.Arg2458Lys)
c.1322G>A (p.Arg441Lys)
c.1580G>A (p.Arg527Lys)
c.7355G>A (p.Arg2452Lys)
c.7274G>A (p.Arg2425Lys)
n.6625G>A
c.7283G>A (p.Arg2428Lys)
c.7160G>A (p.Arg2387Lys)
n.1410G>A
c.4766G>A (p.Arg1589Lys)
c.7379G>A (p.Arg2460Lys)
c.5189G>A (p.Arg1730Lys)
c.4865G>A (p.Arg1622Lys)
11g.118503175G>CCA382804954KMT2Ac.7382G>C (p.Arg2461Thr)
c.7373G>C (p.Arg2458Thr)
c.1322G>C (p.Arg441Thr)
c.1580G>C (p.Arg527Thr)
c.7355G>C (p.Arg2452Thr)
c.7274G>C (p.Arg2425Thr)
n.6625G>C
c.7283G>C (p.Arg2428Thr)
c.7160G>C (p.Arg2387Thr)
n.1410G>C
c.4766G>C (p.Arg1589Thr)
c.7379G>C (p.Arg2460Thr)
c.5189G>C (p.Arg1730Thr)
c.4865G>C (p.Arg1622Thr)
11g.118503175G>TCA382804955KMT2Ac.7382G>T (p.Arg2461Met)
c.7373G>T (p.Arg2458Met)
c.1322G>T (p.Arg441Met)
c.1580G>T (p.Arg527Met)
c.7355G>T (p.Arg2452Met)
c.7274G>T (p.Arg2425Met)
n.6625G>T
c.7283G>T (p.Arg2428Met)
c.7160G>T (p.Arg2387Met)
n.1410G>T
c.4766G>T (p.Arg1589Met)
c.7379G>T (p.Arg2460Met)
c.5189G>T (p.Arg1730Met)
c.4865G>T (p.Arg1622Met)
11g.118503176G>ACA477359276KMT2Ac.7383G>A (p.Arg2461=)
c.7374G>A (p.Arg2458=)
c.1323G>A (p.Arg441=)
c.1581G>A (p.Arg527=)
c.7356G>A (p.Arg2452=)
c.7275G>A (p.Arg2425=)
n.6626G>A
c.7284G>A (p.Arg2428=)
c.7161G>A (p.Arg2387=)
n.1411G>A
c.4767G>A (p.Arg1589=)
c.7380G>A (p.Arg2460=)
c.5190G>A (p.Arg1730=)
c.4866G>A (p.Arg1622=)
11g.118503176G>CCA382804957KMT2Ac.7383G>C (p.Arg2461Ser)
c.7374G>C (p.Arg2458Ser)
c.1323G>C (p.Arg441Ser)
c.1581G>C (p.Arg527Ser)
c.7356G>C (p.Arg2452Ser)
c.7275G>C (p.Arg2425Ser)
n.6626G>C
c.7284G>C (p.Arg2428Ser)
c.7161G>C (p.Arg2387Ser)
n.1411G>C
c.4767G>C (p.Arg1589Ser)
c.7380G>C (p.Arg2460Ser)
c.5190G>C (p.Arg1730Ser)
c.4866G>C (p.Arg1622Ser)
11g.118503176G>TCA382804958KMT2Ac.7383G>T (p.Arg2461Ser)
c.7374G>T (p.Arg2458Ser)
c.1323G>T (p.Arg441Ser)
c.1581G>T (p.Arg527Ser)
c.7356G>T (p.Arg2452Ser)
c.7275G>T (p.Arg2425Ser)
n.6626G>T
c.7284G>T (p.Arg2428Ser)
c.7161G>T (p.Arg2387Ser)
n.1411G>T
c.4767G>T (p.Arg1589Ser)
c.7380G>T (p.Arg2460Ser)
c.5190G>T (p.Arg1730Ser)
c.4866G>T (p.Arg1622Ser)
11g.118503177A>CCA477359278KMT2Ac.7384A>C (p.Arg2462=)
c.7375A>C (p.Arg2459=)
c.1324A>C (p.Arg442=)
c.1582A>C (p.Arg528=)
c.7357A>C (p.Arg2453=)
c.7276A>C (p.Arg2426=)
n.6627A>C
c.7285A>C (p.Arg2429=)
c.7162A>C (p.Arg2388=)
n.1412A>C
c.4768A>C (p.Arg1590=)
c.7381A>C (p.Arg2461=)
c.5191A>C (p.Arg1731=)
c.4867A>C (p.Arg1623=)
11g.118503177A>GCA382804960KMT2Ac.7384A>G (p.Arg2462Gly)
c.7375A>G (p.Arg2459Gly)
c.1324A>G (p.Arg442Gly)
c.1582A>G (p.Arg528Gly)
c.7357A>G (p.Arg2453Gly)
c.7276A>G (p.Arg2426Gly)
n.6627A>G
c.7285A>G (p.Arg2429Gly)
c.7162A>G (p.Arg2388Gly)
n.1412A>G
c.4768A>G (p.Arg1590Gly)
c.7381A>G (p.Arg2461Gly)
c.5191A>G (p.Arg1731Gly)
c.4867A>G (p.Arg1623Gly)
11g.118503177A>TCA382804962KMT2Ac.7384A>T (p.Arg2462Ter)
c.7375A>T (p.Arg2459Ter)
c.1324A>T (p.Arg442Ter)
c.1582A>T (p.Arg528Ter)
c.7357A>T (p.Arg2453Ter)
c.7276A>T (p.Arg2426Ter)
n.6627A>T
c.7285A>T (p.Arg2429Ter)
c.7162A>T (p.Arg2388Ter)
n.1412A>T
c.4768A>T (p.Arg1590Ter)
c.7381A>T (p.Arg2461Ter)
c.5191A>T (p.Arg1731Ter)
c.4867A>T (p.Arg1623Ter)
11g.118503178G>ACA382804964KMT2Ac.7385G>A (p.Arg2462Lys)
c.7376G>A (p.Arg2459Lys)
c.1325G>A (p.Arg442Lys)
c.1583G>A (p.Arg528Lys)
c.7358G>A (p.Arg2453Lys)
c.7277G>A (p.Arg2426Lys)
n.6628G>A
c.7286G>A (p.Arg2429Lys)
c.7163G>A (p.Arg2388Lys)
n.1413G>A
c.4769G>A (p.Arg1590Lys)
c.7382G>A (p.Arg2461Lys)
c.5192G>A (p.Arg1731Lys)
c.4868G>A (p.Arg1623Lys)
 dbSNP COSMIC COSMIC
11g.118503178G>CCA382804965KMT2Ac.7385G>C (p.Arg2462Thr)
c.7376G>C (p.Arg2459Thr)
c.1325G>C (p.Arg442Thr)
c.1583G>C (p.Arg528Thr)
c.7358G>C (p.Arg2453Thr)
c.7277G>C (p.Arg2426Thr)
n.6628G>C
c.7286G>C (p.Arg2429Thr)
c.7163G>C (p.Arg2388Thr)
n.1413G>C
c.4769G>C (p.Arg1590Thr)
c.7382G>C (p.Arg2461Thr)
c.5192G>C (p.Arg1731Thr)
c.4868G>C (p.Arg1623Thr)
11g.118503178G>TCA382804967KMT2Ac.7385G>T (p.Arg2462Ile)
c.7376G>T (p.Arg2459Ile)
c.1325G>T (p.Arg442Ile)
c.1583G>T (p.Arg528Ile)
c.7358G>T (p.Arg2453Ile)
c.7277G>T (p.Arg2426Ile)
n.6628G>T
c.7286G>T (p.Arg2429Ile)
c.7163G>T (p.Arg2388Ile)
n.1413G>T
c.4769G>T (p.Arg1590Ile)
c.7382G>T (p.Arg2461Ile)
c.5192G>T (p.Arg1731Ile)
c.4868G>T (p.Arg1623Ile)
11g.118503179A>CCA382804969KMT2Ac.7386A>C (p.Arg2462Ser)
c.7377A>C (p.Arg2459Ser)
c.1326A>C (p.Arg442Ser)
c.1584A>C (p.Arg528Ser)
c.7359A>C (p.Arg2453Ser)
c.7278A>C (p.Arg2426Ser)
n.6629A>C
c.7287A>C (p.Arg2429Ser)
c.7164A>C (p.Arg2388Ser)
n.1414A>C
c.4770A>C (p.Arg1590Ser)
c.7383A>C (p.Arg2461Ser)
c.5193A>C (p.Arg1731Ser)
c.4869A>C (p.Arg1623Ser)
11g.118503179A>GCA477359281KMT2Ac.7386A>G (p.Arg2462=)
c.7377A>G (p.Arg2459=)
c.1326A>G (p.Arg442=)
c.1584A>G (p.Arg528=)
c.7359A>G (p.Arg2453=)
c.7278A>G (p.Arg2426=)
n.6629A>G
c.7287A>G (p.Arg2429=)
c.7164A>G (p.Arg2388=)
n.1414A>G
c.4770A>G (p.Arg1590=)
c.7383A>G (p.Arg2461=)
c.5193A>G (p.Arg1731=)
c.4869A>G (p.Arg1623=)
11g.118503179A>TCA382804971KMT2Ac.7386A>T (p.Arg2462Ser)
c.7377A>T (p.Arg2459Ser)
c.1326A>T (p.Arg442Ser)
c.1584A>T (p.Arg528Ser)
c.7359A>T (p.Arg2453Ser)
c.7278A>T (p.Arg2426Ser)
n.6629A>T
c.7287A>T (p.Arg2429Ser)
c.7164A>T (p.Arg2388Ser)
n.1414A>T
c.4770A>T (p.Arg1590Ser)
c.7383A>T (p.Arg2461Ser)
c.5193A>T (p.Arg1731Ser)
c.4869A>T (p.Arg1623Ser)
 gnomAD v4
11g.118503180C>ACA382804972KMT2Ac.7387C>A (p.Gln2463Lys)
c.7378C>A (p.Gln2460Lys)
c.1327C>A (p.Gln443Lys)
c.1585C>A (p.Gln529Lys)
c.7360C>A (p.Gln2454Lys)
c.7279C>A (p.Gln2427Lys)
n.6630C>A
c.7288C>A (p.Gln2430Lys)
c.7165C>A (p.Gln2389Lys)
n.1415C>A
c.4771C>A (p.Gln1591Lys)
c.7384C>A (p.Gln2462Lys)
c.5194C>A (p.Gln1732Lys)
c.4870C>A (p.Gln1624Lys)
11g.118503180C>GCA382804973KMT2Ac.7387C>G (p.Gln2463Glu)
c.7378C>G (p.Gln2460Glu)
c.1327C>G (p.Gln443Glu)
c.1585C>G (p.Gln529Glu)
c.7360C>G (p.Gln2454Glu)
c.7279C>G (p.Gln2427Glu)
n.6630C>G
c.7288C>G (p.Gln2430Glu)
c.7165C>G (p.Gln2389Glu)
n.1415C>G
c.4771C>G (p.Gln1591Glu)
c.7384C>G (p.Gln2462Glu)
c.5194C>G (p.Gln1732Glu)
c.4870C>G (p.Gln1624Glu)
11g.118503180C>TCA382804975KMT2Ac.7387C>T (p.Gln2463Ter)
c.7378C>T (p.Gln2460Ter)
c.1327C>T (p.Gln443Ter)
c.1585C>T (p.Gln529Ter)
c.7360C>T (p.Gln2454Ter)
c.7279C>T (p.Gln2427Ter)
n.6630C>T
c.7288C>T (p.Gln2430Ter)
c.7165C>T (p.Gln2389Ter)
n.1415C>T
c.4771C>T (p.Gln1591Ter)
c.7384C>T (p.Gln2462Ter)
c.5194C>T (p.Gln1732Ter)
c.4870C>T (p.Gln1624Ter)
11g.118503181A>CCA382804977KMT2Ac.7388A>C (p.Gln2463Pro)
c.7379A>C (p.Gln2460Pro)
c.1328A>C (p.Gln443Pro)
c.1586A>C (p.Gln529Pro)
c.7361A>C (p.Gln2454Pro)
c.7280A>C (p.Gln2427Pro)
n.6631A>C
c.7289A>C (p.Gln2430Pro)
c.7166A>C (p.Gln2389Pro)
n.1416A>C
c.4772A>C (p.Gln1591Pro)
c.7385A>C (p.Gln2462Pro)
c.5195A>C (p.Gln1732Pro)
c.4871A>C (p.Gln1624Pro)
 gnomAD v4
11g.118503181A>GCA382804979KMT2Ac.7388A>G (p.Gln2463Arg)
c.7379A>G (p.Gln2460Arg)
c.1328A>G (p.Gln443Arg)
c.1586A>G (p.Gln529Arg)
c.7361A>G (p.Gln2454Arg)
c.7280A>G (p.Gln2427Arg)
n.6631A>G
c.7289A>G (p.Gln2430Arg)
c.7166A>G (p.Gln2389Arg)
n.1416A>G
c.4772A>G (p.Gln1591Arg)
c.7385A>G (p.Gln2462Arg)
c.5195A>G (p.Gln1732Arg)
c.4871A>G (p.Gln1624Arg)
11g.118503181A>TCA382804980KMT2Ac.7388A>T (p.Gln2463Leu)
c.7379A>T (p.Gln2460Leu)
c.1328A>T (p.Gln443Leu)
c.1586A>T (p.Gln529Leu)
c.7361A>T (p.Gln2454Leu)
c.7280A>T (p.Gln2427Leu)
n.6631A>T
c.7289A>T (p.Gln2430Leu)
c.7166A>T (p.Gln2389Leu)
n.1416A>T
c.4772A>T (p.Gln1591Leu)
c.7385A>T (p.Gln2462Leu)
c.5195A>T (p.Gln1732Leu)
c.4871A>T (p.Gln1624Leu)
11g.118503182G>ACA477359284KMT2Ac.7389G>A (p.Gln2463=)
c.7380G>A (p.Gln2460=)
c.1329G>A (p.Gln443=)
c.1587G>A (p.Gln529=)
c.7362G>A (p.Gln2454=)
c.7281G>A (p.Gln2427=)
n.6632G>A
c.7290G>A (p.Gln2430=)
c.7167G>A (p.Gln2389=)
n.1417G>A
c.4773G>A (p.Gln1591=)
c.7386G>A (p.Gln2462=)
c.5196G>A (p.Gln1732=)
c.4872G>A (p.Gln1624=)
 dbSNP
11g.118503182G>CCA382804982KMT2Ac.7389G>C (p.Gln2463His)
c.7380G>C (p.Gln2460His)
c.1329G>C (p.Gln443His)
c.1587G>C (p.Gln529His)
c.7362G>C (p.Gln2454His)
c.7281G>C (p.Gln2427His)
n.6632G>C
c.7290G>C (p.Gln2430His)
c.7167G>C (p.Gln2389His)
n.1417G>C
c.4773G>C (p.Gln1591His)
c.7386G>C (p.Gln2462His)
c.5196G>C (p.Gln1732His)
c.4872G>C (p.Gln1624His)
11g.118503182G>TCA382804983KMT2Ac.7389G>T (p.Gln2463His)
c.7380G>T (p.Gln2460His)
c.1329G>T (p.Gln443His)
c.1587G>T (p.Gln529His)
c.7362G>T (p.Gln2454His)
c.7281G>T (p.Gln2427His)
n.6632G>T
c.7290G>T (p.Gln2430His)
c.7167G>T (p.Gln2389His)
n.1417G>T
c.4773G>T (p.Gln1591His)
c.7386G>T (p.Gln2462His)
c.5196G>T (p.Gln1732His)
c.4872G>T (p.Gln1624His)
11g.118503183A>CCA382804985KMT2Ac.7390A>C (p.Lys2464Gln)
c.7381A>C (p.Lys2461Gln)
c.1330A>C (p.Lys444Gln)
c.1588A>C (p.Lys530Gln)
c.7363A>C (p.Lys2455Gln)
c.7282A>C (p.Lys2428Gln)
n.6633A>C
c.7291A>C (p.Lys2431Gln)
c.7168A>C (p.Lys2390Gln)
n.1418A>C
c.4774A>C (p.Lys1592Gln)
c.7387A>C (p.Lys2463Gln)
c.5197A>C (p.Lys1733Gln)
c.4873A>C (p.Lys1625Gln)
11g.118503183A>GCA382804988KMT2Ac.7390A>G (p.Lys2464Glu)
c.7381A>G (p.Lys2461Glu)
c.1330A>G (p.Lys444Glu)
c.1588A>G (p.Lys530Glu)
c.7363A>G (p.Lys2455Glu)
c.7282A>G (p.Lys2428Glu)
n.6633A>G
c.7291A>G (p.Lys2431Glu)
c.7168A>G (p.Lys2390Glu)
n.1418A>G
c.4774A>G (p.Lys1592Glu)
c.7387A>G (p.Lys2463Glu)
c.5197A>G (p.Lys1733Glu)
c.4873A>G (p.Lys1625Glu)
11g.118503183A>TCA382804987KMT2Ac.7390A>T (p.Lys2464Ter)
c.7381A>T (p.Lys2461Ter)
c.1330A>T (p.Lys444Ter)
c.1588A>T (p.Lys530Ter)
c.7363A>T (p.Lys2455Ter)
c.7282A>T (p.Lys2428Ter)
n.6633A>T
c.7291A>T (p.Lys2431Ter)
c.7168A>T (p.Lys2390Ter)
n.1418A>T
c.4774A>T (p.Lys1592Ter)
c.7387A>T (p.Lys2463Ter)
c.5197A>T (p.Lys1733Ter)
c.4873A>T (p.Lys1625Ter)
11g.118503184A=CA2003527524KMT2Ac.7391A= (p.Lys2464=)
c.7382A= (p.Lys2461=)
c.1331A= (p.Lys444=)
c.1589A= (p.Lys530=)
c.7364A= (p.Lys2455=)
c.7283A= (p.Lys2428=)
n.6634A=
c.7292A= (p.Lys2431=)
c.7169A= (p.Lys2390=)
n.1419A=
c.4775A= (p.Lys1592=)
c.7388A= (p.Lys2463=)
c.5198A= (p.Lys1733=)
c.4874A= (p.Lys1625=)
11g.118503184A>CCA382804990KMT2Ac.7391A>C (p.Lys2464Thr)
c.7382A>C (p.Lys2461Thr)
c.1331A>C (p.Lys444Thr)
c.1589A>C (p.Lys530Thr)
c.7364A>C (p.Lys2455Thr)
c.7283A>C (p.Lys2428Thr)
n.6634A>C
c.7292A>C (p.Lys2431Thr)
c.7169A>C (p.Lys2390Thr)
n.1419A>C
c.4775A>C (p.Lys1592Thr)
c.7388A>C (p.Lys2463Thr)
c.5198A>C (p.Lys1733Thr)
c.4874A>C (p.Lys1625Thr)
11g.118503184A>GCA382804992KMT2Ac.7391A>G (p.Lys2464Arg)
c.7382A>G (p.Lys2461Arg)
c.1331A>G (p.Lys444Arg)
c.1589A>G (p.Lys530Arg)
c.7364A>G (p.Lys2455Arg)
c.7283A>G (p.Lys2428Arg)
n.6634A>G
c.7292A>G (p.Lys2431Arg)
c.7169A>G (p.Lys2390Arg)
n.1419A>G
c.4775A>G (p.Lys1592Arg)
c.7388A>G (p.Lys2463Arg)
c.5198A>G (p.Lys1733Arg)
c.4874A>G (p.Lys1625Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.118503184A>TCA382804993KMT2Ac.7391A>T (p.Lys2464Ile)
c.7382A>T (p.Lys2461Ile)
c.1331A>T (p.Lys444Ile)
c.1589A>T (p.Lys530Ile)
c.7364A>T (p.Lys2455Ile)
c.7283A>T (p.Lys2428Ile)
n.6634A>T
c.7292A>T (p.Lys2431Ile)
c.7169A>T (p.Lys2390Ile)
n.1419A>T
c.4775A>T (p.Lys1592Ile)
c.7388A>T (p.Lys2463Ile)
c.5198A>T (p.Lys1733Ile)
c.4874A>T (p.Lys1625Ile)
11g.118503185A=CA2003527529KMT2Ac.7392A= (p.Lys2464=)
c.7383A= (p.Lys2461=)
c.1332A= (p.Lys444=)
c.1590A= (p.Lys530=)
c.7365A= (p.Lys2455=)
c.7284A= (p.Lys2428=)
n.6635A=
c.7293A= (p.Lys2431=)
c.7170A= (p.Lys2390=)
n.1420A=
c.4776A= (p.Lys1592=)
c.7389A= (p.Lys2463=)
c.5199A= (p.Lys1733=)
c.4875A= (p.Lys1625=)
11g.118503185A>CCA382804995KMT2Ac.7392A>C (p.Lys2464Asn)
c.7383A>C (p.Lys2461Asn)
c.1332A>C (p.Lys444Asn)
c.1590A>C (p.Lys530Asn)
c.7365A>C (p.Lys2455Asn)
c.7284A>C (p.Lys2428Asn)
n.6635A>C
c.7293A>C (p.Lys2431Asn)
c.7170A>C (p.Lys2390Asn)
n.1420A>C
c.4776A>C (p.Lys1592Asn)
c.7389A>C (p.Lys2463Asn)
c.5199A>C (p.Lys1733Asn)
c.4875A>C (p.Lys1625Asn)
11g.118503185A>GCA477359286KMT2Ac.7392A>G (p.Lys2464=)
c.7383A>G (p.Lys2461=)
c.1332A>G (p.Lys444=)
c.1590A>G (p.Lys530=)
c.7365A>G (p.Lys2455=)
c.7284A>G (p.Lys2428=)
n.6635A>G
c.7293A>G (p.Lys2431=)
c.7170A>G (p.Lys2390=)
n.1420A>G
c.4776A>G (p.Lys1592=)
c.7389A>G (p.Lys2463=)
c.5199A>G (p.Lys1733=)
c.4875A>G (p.Lys1625=)
 dbSNP
11g.118503185A>TCA382804997KMT2Ac.7392A>T (p.Lys2464Asn)
c.7383A>T (p.Lys2461Asn)
c.1332A>T (p.Lys444Asn)
c.1590A>T (p.Lys530Asn)
c.7365A>T (p.Lys2455Asn)
c.7284A>T (p.Lys2428Asn)
n.6635A>T
c.7293A>T (p.Lys2431Asn)
c.7170A>T (p.Lys2390Asn)
n.1420A>T
c.4776A>T (p.Lys1592Asn)
c.7389A>T (p.Lys2463Asn)
c.5199A>T (p.Lys1733Asn)
c.4875A>T (p.Lys1625Asn)
11g.118503186G>ACA382804999KMT2Ac.7393G>A (p.Gly2465Arg)
c.7384G>A (p.Gly2462Arg)
c.1333G>A (p.Gly445Arg)
c.1591G>A (p.Gly531Arg)
c.7366G>A (p.Gly2456Arg)
c.7285G>A (p.Gly2429Arg)
n.6636G>A
c.7294G>A (p.Gly2432Arg)
c.7171G>A (p.Gly2391Arg)
n.1421G>A
c.4777G>A (p.Gly1593Arg)
c.7390G>A (p.Gly2464Arg)
c.5200G>A (p.Gly1734Arg)
c.4876G>A (p.Gly1626Arg)
 dbSNP
11g.118503186G>CCA382805001KMT2Ac.7393G>C (p.Gly2465Arg)
c.7384G>C (p.Gly2462Arg)
c.1333G>C (p.Gly445Arg)
c.1591G>C (p.Gly531Arg)
c.7366G>C (p.Gly2456Arg)
c.7285G>C (p.Gly2429Arg)
n.6636G>C
c.7294G>C (p.Gly2432Arg)
c.7171G>C (p.Gly2391Arg)
n.1421G>C
c.4777G>C (p.Gly1593Arg)
c.7390G>C (p.Gly2464Arg)
c.5200G>C (p.Gly1734Arg)
c.4876G>C (p.Gly1626Arg)
 gnomAD v4
11g.118503186G>TCA382805002KMT2Ac.7393G>T (p.Gly2465Trp)
c.7384G>T (p.Gly2462Trp)
c.1333G>T (p.Gly445Trp)
c.1591G>T (p.Gly531Trp)
c.7366G>T (p.Gly2456Trp)
c.7285G>T (p.Gly2429Trp)
n.6636G>T
c.7294G>T (p.Gly2432Trp)
c.7171G>T (p.Gly2391Trp)
n.1421G>T
c.4777G>T (p.Gly1593Trp)
c.7390G>T (p.Gly2464Trp)
c.5200G>T (p.Gly1734Trp)
c.4876G>T (p.Gly1626Trp)
11g.118503187G>ACA6304381KMT2Ac.7394G>A (p.Gly2465Glu)
c.7385G>A (p.Gly2462Glu)
c.1334G>A (p.Gly445Glu)
c.1592G>A (p.Gly531Glu)
c.7367G>A (p.Gly2456Glu)
c.7286G>A (p.Gly2429Glu)
n.6637G>A
c.7295G>A (p.Gly2432Glu)
c.7172G>A (p.Gly2391Glu)
n.1422G>A
c.4778G>A (p.Gly1593Glu)
c.7391G>A (p.Gly2464Glu)
c.5201G>A (p.Gly1734Glu)
c.4877G>A (p.Gly1626Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503187G>CCA382805005KMT2Ac.7394G>C (p.Gly2465Ala)
c.7385G>C (p.Gly2462Ala)
c.1334G>C (p.Gly445Ala)
c.1592G>C (p.Gly531Ala)
c.7367G>C (p.Gly2456Ala)
c.7286G>C (p.Gly2429Ala)
n.6637G>C
c.7295G>C (p.Gly2432Ala)
c.7172G>C (p.Gly2391Ala)
n.1422G>C
c.4778G>C (p.Gly1593Ala)
c.7391G>C (p.Gly2464Ala)
c.5201G>C (p.Gly1734Ala)
c.4877G>C (p.Gly1626Ala)
11g.118503187G=CA2003527535KMT2Ac.7394G= (p.Gly2465=)
c.7385G= (p.Gly2462=)
c.1334G= (p.Gly445=)
c.1592G= (p.Gly531=)
c.7367G= (p.Gly2456=)
c.7286G= (p.Gly2429=)
n.6637G=
c.7295G= (p.Gly2432=)
c.7172G= (p.Gly2391=)
n.1422G=
c.4778G= (p.Gly1593=)
c.7391G= (p.Gly2464=)
c.5201G= (p.Gly1734=)
c.4877G= (p.Gly1626=)
11g.118503187G>TCA382805006KMT2Ac.7394G>T (p.Gly2465Val)
c.7385G>T (p.Gly2462Val)
c.1334G>T (p.Gly445Val)
c.1592G>T (p.Gly531Val)
c.7367G>T (p.Gly2456Val)
c.7286G>T (p.Gly2429Val)
n.6637G>T
c.7295G>T (p.Gly2432Val)
c.7172G>T (p.Gly2391Val)
n.1422G>T
c.4778G>T (p.Gly1593Val)
c.7391G>T (p.Gly2464Val)
c.5201G>T (p.Gly1734Val)
c.4877G>T (p.Gly1626Val)
11g.118503188G>ACA477359288KMT2Ac.7395G>A (p.Gly2465=)
c.7386G>A (p.Gly2462=)
c.1335G>A (p.Gly445=)
c.1593G>A (p.Gly531=)
c.7368G>A (p.Gly2456=)
c.7287G>A (p.Gly2429=)
n.6638G>A
c.7296G>A (p.Gly2432=)
c.7173G>A (p.Gly2391=)
n.1423G>A
c.4779G>A (p.Gly1593=)
c.7392G>A (p.Gly2464=)
c.5202G>A (p.Gly1734=)
c.4878G>A (p.Gly1626=)
11g.118503188G>CCA477359289KMT2Ac.7395G>C (p.Gly2465=)
c.7386G>C (p.Gly2462=)
c.1335G>C (p.Gly445=)
c.1593G>C (p.Gly531=)
c.7368G>C (p.Gly2456=)
c.7287G>C (p.Gly2429=)
n.6638G>C
c.7296G>C (p.Gly2432=)
c.7173G>C (p.Gly2391=)
n.1423G>C
c.4779G>C (p.Gly1593=)
c.7392G>C (p.Gly2464=)
c.5202G>C (p.Gly1734=)
c.4878G>C (p.Gly1626=)
11g.118503188G>TCA477359290KMT2Ac.7395G>T (p.Gly2465=)
c.7386G>T (p.Gly2462=)
c.1335G>T (p.Gly445=)
c.1593G>T (p.Gly531=)
c.7368G>T (p.Gly2456=)
c.7287G>T (p.Gly2429=)
n.6638G>T
c.7296G>T (p.Gly2432=)
c.7173G>T (p.Gly2391=)
n.1423G>T
c.4779G>T (p.Gly1593=)
c.7392G>T (p.Gly2464=)
c.5202G>T (p.Gly1734=)
c.4878G>T (p.Gly1626=)
11g.118503189A>CCA382805009KMT2Ac.7396A>C (p.Lys2466Gln)
c.7387A>C (p.Lys2463Gln)
c.1336A>C (p.Lys446Gln)
c.1594A>C (p.Lys532Gln)
c.7369A>C (p.Lys2457Gln)
c.7288A>C (p.Lys2430Gln)
n.6639A>C
c.7297A>C (p.Lys2433Gln)
c.7174A>C (p.Lys2392Gln)
n.1424A>C
c.4780A>C (p.Lys1594Gln)
c.7393A>C (p.Lys2465Gln)
c.5203A>C (p.Lys1735Gln)
c.4879A>C (p.Lys1627Gln)
11g.118503189A>GCA382805011KMT2Ac.7396A>G (p.Lys2466Glu)
c.7387A>G (p.Lys2463Glu)
c.1336A>G (p.Lys446Glu)
c.1594A>G (p.Lys532Glu)
c.7369A>G (p.Lys2457Glu)
c.7288A>G (p.Lys2430Glu)
n.6639A>G
c.7297A>G (p.Lys2433Glu)
c.7174A>G (p.Lys2392Glu)
n.1424A>G
c.4780A>G (p.Lys1594Glu)
c.7393A>G (p.Lys2465Glu)
c.5203A>G (p.Lys1735Glu)
c.4879A>G (p.Lys1627Glu)
11g.118503189A>TCA382805008KMT2Ac.7396A>T (p.Lys2466Ter)
c.7387A>T (p.Lys2463Ter)
c.1336A>T (p.Lys446Ter)
c.1594A>T (p.Lys532Ter)
c.7369A>T (p.Lys2457Ter)
c.7288A>T (p.Lys2430Ter)
n.6639A>T
c.7297A>T (p.Lys2433Ter)
c.7174A>T (p.Lys2392Ter)
n.1424A>T
c.4780A>T (p.Lys1594Ter)
c.7393A>T (p.Lys2465Ter)
c.5203A>T (p.Lys1735Ter)
c.4879A>T (p.Lys1627Ter)
11g.118503194dupCA2580083615KMT2Ac.7401dup (p.Ser2468IlefsTer3)
c.7392dup (p.Ser2465IlefsTer3)
c.1341dup (p.Ser448IlefsTer3)
c.1599dup (p.Ser534IlefsTer3)
c.7374dup (p.Ser2459IlefsTer3)
c.7293dup (p.Ser2432IlefsTer3)
n.6644dup
c.7302dup (p.Ser2435IlefsTer3)
c.7179dup (p.Ser2394IlefsTer3)
n.1429dup
c.4785dup (p.Ser1596IlefsTer3)
c.7398dup (p.Ser2467IlefsTer3)
c.5208dup (p.Ser1737IlefsTer3)
c.4884dup (p.Ser1629IlefsTer3)
 ClinVar
11g.118503190A>CCA382805013KMT2Ac.7397A>C (p.Lys2466Thr)
c.7388A>C (p.Lys2463Thr)
c.1337A>C (p.Lys446Thr)
c.1595A>C (p.Lys532Thr)
c.7370A>C (p.Lys2457Thr)
c.7289A>C (p.Lys2430Thr)
n.6640A>C
c.7298A>C (p.Lys2433Thr)
c.7175A>C (p.Lys2392Thr)
n.1425A>C
c.4781A>C (p.Lys1594Thr)
c.7394A>C (p.Lys2465Thr)
c.5204A>C (p.Lys1735Thr)
c.4880A>C (p.Lys1627Thr)
11g.118503190A>GCA382805015KMT2Ac.7397A>G (p.Lys2466Arg)
c.7388A>G (p.Lys2463Arg)
c.1337A>G (p.Lys446Arg)
c.1595A>G (p.Lys532Arg)
c.7370A>G (p.Lys2457Arg)
c.7289A>G (p.Lys2430Arg)
n.6640A>G
c.7298A>G (p.Lys2433Arg)
c.7175A>G (p.Lys2392Arg)
n.1425A>G
c.4781A>G (p.Lys1594Arg)
c.7394A>G (p.Lys2465Arg)
c.5204A>G (p.Lys1735Arg)
c.4880A>G (p.Lys1627Arg)
11g.118503190A>TCA382805016KMT2Ac.7397A>T (p.Lys2466Ile)
c.7388A>T (p.Lys2463Ile)
c.1337A>T (p.Lys446Ile)
c.1595A>T (p.Lys532Ile)
c.7370A>T (p.Lys2457Ile)
c.7289A>T (p.Lys2430Ile)
n.6640A>T
c.7298A>T (p.Lys2433Ile)
c.7175A>T (p.Lys2392Ile)
n.1425A>T
c.4781A>T (p.Lys1594Ile)
c.7394A>T (p.Lys2465Ile)
c.5204A>T (p.Lys1735Ile)
c.4880A>T (p.Lys1627Ile)
11g.118503191A=CA2003527538KMT2Ac.7398A= (p.Lys2466=)
c.7389A= (p.Lys2463=)
c.1338A= (p.Lys446=)
c.1596A= (p.Lys532=)
c.7371A= (p.Lys2457=)
c.7290A= (p.Lys2430=)
n.6641A=
c.7299A= (p.Lys2433=)
c.7176A= (p.Lys2392=)
n.1426A=
c.4782A= (p.Lys1594=)
c.7395A= (p.Lys2465=)
c.5205A= (p.Lys1735=)
c.4881A= (p.Lys1627=)
11g.118503191A>CCA382805018KMT2Ac.7398A>C (p.Lys2466Asn)
c.7389A>C (p.Lys2463Asn)
c.1338A>C (p.Lys446Asn)
c.1596A>C (p.Lys532Asn)
c.7371A>C (p.Lys2457Asn)
c.7290A>C (p.Lys2430Asn)
n.6641A>C
c.7299A>C (p.Lys2433Asn)
c.7176A>C (p.Lys2392Asn)
n.1426A>C
c.4782A>C (p.Lys1594Asn)
c.7395A>C (p.Lys2465Asn)
c.5205A>C (p.Lys1735Asn)
c.4881A>C (p.Lys1627Asn)
 COSMIC COSMIC
11g.118503191A>GCA6304382KMT2Ac.7398A>G (p.Lys2466=)
c.7389A>G (p.Lys2463=)
c.1338A>G (p.Lys446=)
c.1596A>G (p.Lys532=)
c.7371A>G (p.Lys2457=)
c.7290A>G (p.Lys2430=)
n.6641A>G
c.7299A>G (p.Lys2433=)
c.7176A>G (p.Lys2392=)
n.1426A>G
c.4782A>G (p.Lys1594=)
c.7395A>G (p.Lys2465=)
c.5205A>G (p.Lys1735=)
c.4881A>G (p.Lys1627=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503191A>TCA382805020KMT2Ac.7398A>T (p.Lys2466Asn)
c.7389A>T (p.Lys2463Asn)
c.1338A>T (p.Lys446Asn)
c.1596A>T (p.Lys532Asn)
c.7371A>T (p.Lys2457Asn)
c.7290A>T (p.Lys2430Asn)
n.6641A>T
c.7299A>T (p.Lys2433Asn)
c.7176A>T (p.Lys2392Asn)
n.1426A>T
c.4782A>T (p.Lys1594Asn)
c.7395A>T (p.Lys2465Asn)
c.5205A>T (p.Lys1735Asn)
c.4881A>T (p.Lys1627Asn)
11g.118503192A>CCA382805025KMT2Ac.7399A>C (p.Lys2467Gln)
c.7390A>C (p.Lys2464Gln)
c.1339A>C (p.Lys447Gln)
c.1597A>C (p.Lys533Gln)
c.7372A>C (p.Lys2458Gln)
c.7291A>C (p.Lys2431Gln)
n.6642A>C
c.7300A>C (p.Lys2434Gln)
c.7177A>C (p.Lys2393Gln)
n.1427A>C
c.4783A>C (p.Lys1595Gln)
c.7396A>C (p.Lys2466Gln)
c.5206A>C (p.Lys1736Gln)
c.4882A>C (p.Lys1628Gln)
11g.118503192A>GCA382805022KMT2Ac.7399A>G (p.Lys2467Glu)
c.7390A>G (p.Lys2464Glu)
c.1339A>G (p.Lys447Glu)
c.1597A>G (p.Lys533Glu)
c.7372A>G (p.Lys2458Glu)
c.7291A>G (p.Lys2431Glu)
n.6642A>G
c.7300A>G (p.Lys2434Glu)
c.7177A>G (p.Lys2393Glu)
n.1427A>G
c.4783A>G (p.Lys1595Glu)
c.7396A>G (p.Lys2466Glu)
c.5206A>G (p.Lys1736Glu)
c.4882A>G (p.Lys1628Glu)
 COSMIC COSMIC
11g.118503192A>TCA382805024KMT2Ac.7399A>T (p.Lys2467Ter)
c.7390A>T (p.Lys2464Ter)
c.1339A>T (p.Lys447Ter)
c.1597A>T (p.Lys533Ter)
c.7372A>T (p.Lys2458Ter)
c.7291A>T (p.Lys2431Ter)
n.6642A>T
c.7300A>T (p.Lys2434Ter)
c.7177A>T (p.Lys2393Ter)
n.1427A>T
c.4783A>T (p.Lys1595Ter)
c.7396A>T (p.Lys2466Ter)
c.5206A>T (p.Lys1736Ter)
c.4882A>T (p.Lys1628Ter)
11g.118503193A>CCA382805027KMT2Ac.7400A>C (p.Lys2467Thr)
c.7391A>C (p.Lys2464Thr)
c.1340A>C (p.Lys447Thr)
c.1598A>C (p.Lys533Thr)
c.7373A>C (p.Lys2458Thr)
c.7292A>C (p.Lys2431Thr)
n.6643A>C
c.7301A>C (p.Lys2434Thr)
c.7178A>C (p.Lys2393Thr)
n.1428A>C
c.4784A>C (p.Lys1595Thr)
c.7397A>C (p.Lys2466Thr)
c.5207A>C (p.Lys1736Thr)
c.4883A>C (p.Lys1628Thr)
11g.118503193A>GCA382805028KMT2Ac.7400A>G (p.Lys2467Arg)
c.7391A>G (p.Lys2464Arg)
c.1340A>G (p.Lys447Arg)
c.1598A>G (p.Lys533Arg)
c.7373A>G (p.Lys2458Arg)
c.7292A>G (p.Lys2431Arg)
n.6643A>G
c.7301A>G (p.Lys2434Arg)
c.7178A>G (p.Lys2393Arg)
n.1428A>G
c.4784A>G (p.Lys1595Arg)
c.7397A>G (p.Lys2466Arg)
c.5207A>G (p.Lys1736Arg)
c.4883A>G (p.Lys1628Arg)
11g.118503193A>TCA382805030KMT2Ac.7400A>T (p.Lys2467Ile)
c.7391A>T (p.Lys2464Ile)
c.1340A>T (p.Lys447Ile)
c.1598A>T (p.Lys533Ile)
c.7373A>T (p.Lys2458Ile)
c.7292A>T (p.Lys2431Ile)
n.6643A>T
c.7301A>T (p.Lys2434Ile)
c.7178A>T (p.Lys2393Ile)
n.1428A>T
c.4784A>T (p.Lys1595Ile)
c.7397A>T (p.Lys2466Ile)
c.5207A>T (p.Lys1736Ile)
c.4883A>T (p.Lys1628Ile)
 ClinVar dbSNP
11g.118503194A=CA2003527547KMT2Ac.7401A= (p.Lys2467=)
c.7392A= (p.Lys2464=)
c.1341A= (p.Lys447=)
c.1599A= (p.Lys533=)
c.7374A= (p.Lys2458=)
c.7293A= (p.Lys2431=)
n.6644A=
c.7302A= (p.Lys2434=)
c.7179A= (p.Lys2393=)
n.1429A=
c.4785A= (p.Lys1595=)
c.7398A= (p.Lys2466=)
c.5208A= (p.Lys1736=)
c.4884A= (p.Lys1628=)
11g.118503194A>CCA382805031KMT2Ac.7401A>C (p.Lys2467Asn)
c.7392A>C (p.Lys2464Asn)
c.1341A>C (p.Lys447Asn)
c.1599A>C (p.Lys533Asn)
c.7374A>C (p.Lys2458Asn)
c.7293A>C (p.Lys2431Asn)
n.6644A>C
c.7302A>C (p.Lys2434Asn)
c.7179A>C (p.Lys2393Asn)
n.1429A>C
c.4785A>C (p.Lys1595Asn)
c.7398A>C (p.Lys2466Asn)
c.5208A>C (p.Lys1736Asn)
c.4884A>C (p.Lys1628Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.118503194A>GCA477359297KMT2Ac.7401A>G (p.Lys2467=)
c.7392A>G (p.Lys2464=)
c.1341A>G (p.Lys447=)
c.1599A>G (p.Lys533=)
c.7374A>G (p.Lys2458=)
c.7293A>G (p.Lys2431=)
n.6644A>G
c.7302A>G (p.Lys2434=)
c.7179A>G (p.Lys2393=)
n.1429A>G
c.4785A>G (p.Lys1595=)
c.7398A>G (p.Lys2466=)
c.5208A>G (p.Lys1736=)
c.4884A>G (p.Lys1628=)
 ClinVar
11g.118503194A>TCA382805032KMT2Ac.7401A>T (p.Lys2467Asn)
c.7392A>T (p.Lys2464Asn)
c.1341A>T (p.Lys447Asn)
c.1599A>T (p.Lys533Asn)
c.7374A>T (p.Lys2458Asn)
c.7293A>T (p.Lys2431Asn)
n.6644A>T
c.7302A>T (p.Lys2434Asn)
c.7179A>T (p.Lys2393Asn)
n.1429A>T
c.4785A>T (p.Lys1595Asn)
c.7398A>T (p.Lys2466Asn)
c.5208A>T (p.Lys1736Asn)
c.4884A>T (p.Lys1628Asn)
11g.118503195T>ACA382805034KMT2Ac.7402T>A (p.Ser2468Thr)
c.7393T>A (p.Ser2465Thr)
c.1342T>A (p.Ser448Thr)
c.1600T>A (p.Ser534Thr)
c.7375T>A (p.Ser2459Thr)
c.7294T>A (p.Ser2432Thr)
n.6645T>A
c.7303T>A (p.Ser2435Thr)
c.7180T>A (p.Ser2394Thr)
n.1430T>A
c.4786T>A (p.Ser1596Thr)
c.7399T>A (p.Ser2467Thr)
c.5209T>A (p.Ser1737Thr)
c.4885T>A (p.Ser1629Thr)
11g.118503195T>CCA382805037KMT2Ac.7402T>C (p.Ser2468Pro)
c.7393T>C (p.Ser2465Pro)
c.1342T>C (p.Ser448Pro)
c.1600T>C (p.Ser534Pro)
c.7375T>C (p.Ser2459Pro)
c.7294T>C (p.Ser2432Pro)
n.6645T>C
c.7303T>C (p.Ser2435Pro)
c.7180T>C (p.Ser2394Pro)
n.1430T>C
c.4786T>C (p.Ser1596Pro)
c.7399T>C (p.Ser2467Pro)
c.5209T>C (p.Ser1737Pro)
c.4885T>C (p.Ser1629Pro)
11g.118503195T>GCA382805035KMT2Ac.7402T>G (p.Ser2468Ala)
c.7393T>G (p.Ser2465Ala)
c.1342T>G (p.Ser448Ala)
c.1600T>G (p.Ser534Ala)
c.7375T>G (p.Ser2459Ala)
c.7294T>G (p.Ser2432Ala)
n.6645T>G
c.7303T>G (p.Ser2435Ala)
c.7180T>G (p.Ser2394Ala)
n.1430T>G
c.4786T>G (p.Ser1596Ala)
c.7399T>G (p.Ser2467Ala)
c.5209T>G (p.Ser1737Ala)
c.4885T>G (p.Ser1629Ala)
11g.118503196C>ACA382805038KMT2Ac.7403C>A (p.Ser2468Tyr)
c.7394C>A (p.Ser2465Tyr)
c.1343C>A (p.Ser448Tyr)
c.1601C>A (p.Ser534Tyr)
c.7376C>A (p.Ser2459Tyr)
c.7295C>A (p.Ser2432Tyr)
n.6646C>A
c.7304C>A (p.Ser2435Tyr)
c.7181C>A (p.Ser2394Tyr)
n.1431C>A
c.4787C>A (p.Ser1596Tyr)
c.7400C>A (p.Ser2467Tyr)
c.5210C>A (p.Ser1737Tyr)
c.4886C>A (p.Ser1629Tyr)
11g.118503196C=CA2003527554KMT2Ac.7403C= (p.Ser2468=)
c.7394C= (p.Ser2465=)
c.1343C= (p.Ser448=)
c.1601C= (p.Ser534=)
c.7376C= (p.Ser2459=)
c.7295C= (p.Ser2432=)
n.6646C=
c.7304C= (p.Ser2435=)
c.7181C= (p.Ser2394=)
n.1431C=
c.4787C= (p.Ser1596=)
c.7400C= (p.Ser2467=)
c.5210C= (p.Ser1737=)
c.4886C= (p.Ser1629=)
11g.118503196C>GCA6304383KMT2Ac.7403C>G (p.Ser2468Cys)
c.7394C>G (p.Ser2465Cys)
c.1343C>G (p.Ser448Cys)
c.1601C>G (p.Ser534Cys)
c.7376C>G (p.Ser2459Cys)
c.7295C>G (p.Ser2432Cys)
n.6646C>G
c.7304C>G (p.Ser2435Cys)
c.7181C>G (p.Ser2394Cys)
n.1431C>G
c.4787C>G (p.Ser1596Cys)
c.7400C>G (p.Ser2467Cys)
c.5210C>G (p.Ser1737Cys)
c.4886C>G (p.Ser1629Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503196C>TCA382805040KMT2Ac.7403C>T (p.Ser2468Phe)
c.7394C>T (p.Ser2465Phe)
c.1343C>T (p.Ser448Phe)
c.1601C>T (p.Ser534Phe)
c.7376C>T (p.Ser2459Phe)
c.7295C>T (p.Ser2432Phe)
n.6646C>T
c.7304C>T (p.Ser2435Phe)
c.7181C>T (p.Ser2394Phe)
n.1431C>T
c.4787C>T (p.Ser1596Phe)
c.7400C>T (p.Ser2467Phe)
c.5210C>T (p.Ser1737Phe)
c.4886C>T (p.Ser1629Phe)
11g.118503197C>ACA477359299KMT2Ac.7404C>A (p.Ser2468=)
c.7395C>A (p.Ser2465=)
c.1344C>A (p.Ser448=)
c.1602C>A (p.Ser534=)
c.7377C>A (p.Ser2459=)
c.7296C>A (p.Ser2432=)
n.6647C>A
c.7305C>A (p.Ser2435=)
c.7182C>A (p.Ser2394=)
n.1432C>A
c.4788C>A (p.Ser1596=)
c.7401C>A (p.Ser2467=)
c.5211C>A (p.Ser1737=)
c.4887C>A (p.Ser1629=)
11g.118503197C=CA2003527562KMT2Ac.7404C= (p.Ser2468=)
c.7395C= (p.Ser2465=)
c.1344C= (p.Ser448=)
c.1602C= (p.Ser534=)
c.7377C= (p.Ser2459=)
c.7296C= (p.Ser2432=)
n.6647C=
c.7305C= (p.Ser2435=)
c.7182C= (p.Ser2394=)
n.1432C=
c.4788C= (p.Ser1596=)
c.7401C= (p.Ser2467=)
c.5211C= (p.Ser1737=)
c.4887C= (p.Ser1629=)
11g.118503197C>GCA6304384KMT2Ac.7404C>G (p.Ser2468=)
c.7395C>G (p.Ser2465=)
c.1344C>G (p.Ser448=)
c.1602C>G (p.Ser534=)
c.7377C>G (p.Ser2459=)
c.7296C>G (p.Ser2432=)
n.6647C>G
c.7305C>G (p.Ser2435=)
c.7182C>G (p.Ser2394=)
n.1432C>G
c.4788C>G (p.Ser1596=)
c.7401C>G (p.Ser2467=)
c.5211C>G (p.Ser1737=)
c.4887C>G (p.Ser1629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503197C>TCA477359300KMT2Ac.7404C>T (p.Ser2468=)
c.7395C>T (p.Ser2465=)
c.1344C>T (p.Ser448=)
c.1602C>T (p.Ser534=)
c.7377C>T (p.Ser2459=)
c.7296C>T (p.Ser2432=)
n.6647C>T
c.7305C>T (p.Ser2435=)
c.7182C>T (p.Ser2394=)
n.1432C>T
c.4788C>T (p.Ser1596=)
c.7401C>T (p.Ser2467=)
c.5211C>T (p.Ser1737=)
c.4887C>T (p.Ser1629=)
 dbSNP
11g.118503198T>ACA382805043KMT2Ac.7405T>A (p.Cys2469Ser)
c.7396T>A (p.Cys2466Ser)
c.1345T>A (p.Cys449Ser)
c.1603T>A (p.Cys535Ser)
c.7378T>A (p.Cys2460Ser)
c.7297T>A (p.Cys2433Ser)
n.6648T>A
c.7306T>A (p.Cys2436Ser)
c.7183T>A (p.Cys2395Ser)
n.1433T>A
c.4789T>A (p.Cys1597Ser)
c.7402T>A (p.Cys2468Ser)
c.5212T>A (p.Cys1738Ser)
c.4888T>A (p.Cys1630Ser)
11g.118503198T>CCA382805044KMT2Ac.7405T>C (p.Cys2469Arg)
c.7396T>C (p.Cys2466Arg)
c.1345T>C (p.Cys449Arg)
c.1603T>C (p.Cys535Arg)
c.7378T>C (p.Cys2460Arg)
c.7297T>C (p.Cys2433Arg)
n.6648T>C
c.7306T>C (p.Cys2436Arg)
c.7183T>C (p.Cys2395Arg)
n.1433T>C
c.4789T>C (p.Cys1597Arg)
c.7402T>C (p.Cys2468Arg)
c.5212T>C (p.Cys1738Arg)
c.4888T>C (p.Cys1630Arg)
 dbSNP
11g.118503198T>GCA382805046KMT2Ac.7405T>G (p.Cys2469Gly)
c.7396T>G (p.Cys2466Gly)
c.1345T>G (p.Cys449Gly)
c.1603T>G (p.Cys535Gly)
c.7378T>G (p.Cys2460Gly)
c.7297T>G (p.Cys2433Gly)
n.6648T>G
c.7306T>G (p.Cys2436Gly)
c.7183T>G (p.Cys2395Gly)
n.1433T>G
c.4789T>G (p.Cys1597Gly)
c.7402T>G (p.Cys2468Gly)
c.5212T>G (p.Cys1738Gly)
c.4888T>G (p.Cys1630Gly)
11g.118503198T=CA2003527567KMT2Ac.7405T= (p.Cys2469=)
c.7396T= (p.Cys2466=)
c.1345T= (p.Cys449=)
c.1603T= (p.Cys535=)
c.7378T= (p.Cys2460=)
c.7297T= (p.Cys2433=)
n.6648T=
c.7306T= (p.Cys2436=)
c.7183T= (p.Cys2395=)
n.1433T=
c.4789T= (p.Cys1597=)
c.7402T= (p.Cys2468=)
c.5212T= (p.Cys1738=)
c.4888T= (p.Cys1630=)
11g.118503199G>ACA6304385KMT2Ac.7406G>A (p.Cys2469Tyr)
c.7397G>A (p.Cys2466Tyr)
c.1346G>A (p.Cys449Tyr)
c.1604G>A (p.Cys535Tyr)
c.7379G>A (p.Cys2460Tyr)
c.7298G>A (p.Cys2433Tyr)
n.6649G>A
c.7307G>A (p.Cys2436Tyr)
c.7184G>A (p.Cys2395Tyr)
n.1434G>A
c.4790G>A (p.Cys1597Tyr)
c.7403G>A (p.Cys2468Tyr)
c.5213G>A (p.Cys1738Tyr)
c.4889G>A (p.Cys1630Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503199G>CCA382805049KMT2Ac.7406G>C (p.Cys2469Ser)
c.7397G>C (p.Cys2466Ser)
c.1346G>C (p.Cys449Ser)
c.1604G>C (p.Cys535Ser)
c.7379G>C (p.Cys2460Ser)
c.7298G>C (p.Cys2433Ser)
n.6649G>C
c.7307G>C (p.Cys2436Ser)
c.7184G>C (p.Cys2395Ser)
n.1434G>C
c.4790G>C (p.Cys1597Ser)
c.7403G>C (p.Cys2468Ser)
c.5213G>C (p.Cys1738Ser)
c.4889G>C (p.Cys1630Ser)
11g.118503199G=CA2003527569KMT2Ac.7406G= (p.Cys2469=)
c.7397G= (p.Cys2466=)
c.1346G= (p.Cys449=)
c.1604G= (p.Cys535=)
c.7379G= (p.Cys2460=)
c.7298G= (p.Cys2433=)
n.6649G=
c.7307G= (p.Cys2436=)
c.7184G= (p.Cys2395=)
n.1434G=
c.4790G= (p.Cys1597=)
c.7403G= (p.Cys2468=)
c.5213G= (p.Cys1738=)
c.4889G= (p.Cys1630=)
11g.118503199G>TCA382805051KMT2Ac.7406G>T (p.Cys2469Phe)
c.7397G>T (p.Cys2466Phe)
c.1346G>T (p.Cys449Phe)
c.1604G>T (p.Cys535Phe)
c.7379G>T (p.Cys2460Phe)
c.7298G>T (p.Cys2433Phe)
n.6649G>T
c.7307G>T (p.Cys2436Phe)
c.7184G>T (p.Cys2395Phe)
n.1434G>T
c.4790G>T (p.Cys1597Phe)
c.7403G>T (p.Cys2468Phe)
c.5213G>T (p.Cys1738Phe)
c.4889G>T (p.Cys1630Phe)
11g.118503200T>ACA382805053KMT2Ac.7407T>A (p.Cys2469Ter)
c.7398T>A (p.Cys2466Ter)
c.1347T>A (p.Cys449Ter)
c.1605T>A (p.Cys535Ter)
c.7380T>A (p.Cys2460Ter)
c.7299T>A (p.Cys2433Ter)
n.6650T>A
c.7308T>A (p.Cys2436Ter)
c.7185T>A (p.Cys2395Ter)
n.1435T>A
c.4791T>A (p.Cys1597Ter)
c.7404T>A (p.Cys2468Ter)
c.5214T>A (p.Cys1738Ter)
c.4890T>A (p.Cys1630Ter)
11g.118503200T>CCA477359302KMT2Ac.7407T>C (p.Cys2469=)
c.7398T>C (p.Cys2466=)
c.1347T>C (p.Cys449=)
c.1605T>C (p.Cys535=)
c.7380T>C (p.Cys2460=)
c.7299T>C (p.Cys2433=)
n.6650T>C
c.7308T>C (p.Cys2436=)
c.7185T>C (p.Cys2395=)
n.1435T>C
c.4791T>C (p.Cys1597=)
c.7404T>C (p.Cys2468=)
c.5214T>C (p.Cys1738=)
c.4890T>C (p.Cys1630=)
11g.118503200T>GCA382805054KMT2Ac.7407T>G (p.Cys2469Trp)
c.7398T>G (p.Cys2466Trp)
c.1347T>G (p.Cys449Trp)
c.1605T>G (p.Cys535Trp)
c.7380T>G (p.Cys2460Trp)
c.7299T>G (p.Cys2433Trp)
n.6650T>G
c.7308T>G (p.Cys2436Trp)
c.7185T>G (p.Cys2395Trp)
n.1435T>G
c.4791T>G (p.Cys1597Trp)
c.7404T>G (p.Cys2468Trp)
c.5214T>G (p.Cys1738Trp)
c.4890T>G (p.Cys1630Trp)
11g.118503201A>CCA382805056KMT2Ac.7408A>C (p.Lys2470Gln)
c.7399A>C (p.Lys2467Gln)
c.1348A>C (p.Lys450Gln)
c.1606A>C (p.Lys536Gln)
c.7381A>C (p.Lys2461Gln)
c.7300A>C (p.Lys2434Gln)
n.6651A>C
c.7309A>C (p.Lys2437Gln)
c.7186A>C (p.Lys2396Gln)
n.1436A>C
c.4792A>C (p.Lys1598Gln)
c.7405A>C (p.Lys2469Gln)
c.5215A>C (p.Lys1739Gln)
c.4891A>C (p.Lys1631Gln)
11g.118503201A>GCA382805060KMT2Ac.7408A>G (p.Lys2470Glu)
c.7399A>G (p.Lys2467Glu)
c.1348A>G (p.Lys450Glu)
c.1606A>G (p.Lys536Glu)
c.7381A>G (p.Lys2461Glu)
c.7300A>G (p.Lys2434Glu)
n.6651A>G
c.7309A>G (p.Lys2437Glu)
c.7186A>G (p.Lys2396Glu)
n.1436A>G
c.4792A>G (p.Lys1598Glu)
c.7405A>G (p.Lys2469Glu)
c.5215A>G (p.Lys1739Glu)
c.4891A>G (p.Lys1631Glu)
11g.118503201A>TCA382805058KMT2Ac.7408A>T (p.Lys2470Ter)
c.7399A>T (p.Lys2467Ter)
c.1348A>T (p.Lys450Ter)
c.1606A>T (p.Lys536Ter)
c.7381A>T (p.Lys2461Ter)
c.7300A>T (p.Lys2434Ter)
n.6651A>T
c.7309A>T (p.Lys2437Ter)
c.7186A>T (p.Lys2396Ter)
n.1436A>T
c.4792A>T (p.Lys1598Ter)
c.7405A>T (p.Lys2469Ter)
c.5215A>T (p.Lys1739Ter)
c.4891A>T (p.Lys1631Ter)
11g.118503208_118503219delCA2725086117KMT2Ac.7415_7426del (p.Thr2472_Glu2475del)
c.7406_7417del (p.Thr2469_Glu2472del)
c.1355_1366del (p.Thr452_Glu455del)
c.1613_1624del (p.Thr538_Glu541del)
c.7388_7399del (p.Thr2463_Glu2466del)
c.7307_7318del (p.Thr2436_Glu2439del)
n.6658_6669del
c.7316_7327del (p.Thr2439_Glu2442del)
c.7193_7204del (p.Thr2398_Glu2401del)
n.1443_1454del
c.4799_4810del (p.Thr1600_Glu1603del)
c.7412_7423del (p.Thr2471_Glu2474del)
c.5222_5233del (p.Thr1741_Glu1744del)
c.4898_4909del (p.Thr1633_Glu1636del)
 dbSNP
11g.118503202A=CA2003527573KMT2Ac.7409A= (p.Lys2470=)
c.7400A= (p.Lys2467=)
c.1349A= (p.Lys450=)
c.1607A= (p.Lys536=)
c.7382A= (p.Lys2461=)
c.7301A= (p.Lys2434=)
n.6652A=
c.7310A= (p.Lys2437=)
c.7187A= (p.Lys2396=)
n.1437A=
c.4793A= (p.Lys1598=)
c.7406A= (p.Lys2469=)
c.5216A= (p.Lys1739=)
c.4892A= (p.Lys1631=)
11g.118503202A>CCA382805062KMT2Ac.7409A>C (p.Lys2470Thr)
c.7400A>C (p.Lys2467Thr)
c.1349A>C (p.Lys450Thr)
c.1607A>C (p.Lys536Thr)
c.7382A>C (p.Lys2461Thr)
c.7301A>C (p.Lys2434Thr)
n.6652A>C
c.7310A>C (p.Lys2437Thr)
c.7187A>C (p.Lys2396Thr)
n.1437A>C
c.4793A>C (p.Lys1598Thr)
c.7406A>C (p.Lys2469Thr)
c.5216A>C (p.Lys1739Thr)
c.4892A>C (p.Lys1631Thr)
11g.118503202A>GCA6304386KMT2Ac.7409A>G (p.Lys2470Arg)
c.7400A>G (p.Lys2467Arg)
c.1349A>G (p.Lys450Arg)
c.1607A>G (p.Lys536Arg)
c.7382A>G (p.Lys2461Arg)
c.7301A>G (p.Lys2434Arg)
n.6652A>G
c.7310A>G (p.Lys2437Arg)
c.7187A>G (p.Lys2396Arg)
n.1437A>G
c.4793A>G (p.Lys1598Arg)
c.7406A>G (p.Lys2469Arg)
c.5216A>G (p.Lys1739Arg)
c.4892A>G (p.Lys1631Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118503202A>TCA382805063KMT2Ac.7409A>T (p.Lys2470Ile)
c.7400A>T (p.Lys2467Ile)
c.1349A>T (p.Lys450Ile)
c.1607A>T (p.Lys536Ile)
c.7382A>T (p.Lys2461Ile)
c.7301A>T (p.Lys2434Ile)
n.6652A>T
c.7310A>T (p.Lys2437Ile)
c.7187A>T (p.Lys2396Ile)
n.1437A>T
c.4793A>T (p.Lys1598Ile)
c.7406A>T (p.Lys2469Ile)
c.5216A>T (p.Lys1739Ile)
c.4892A>T (p.Lys1631Ile)
11g.118503203A>CCA382805066KMT2Ac.7410A>C (p.Lys2470Asn)
c.7401A>C (p.Lys2467Asn)
c.1350A>C (p.Lys450Asn)
c.1608A>C (p.Lys536Asn)
c.7383A>C (p.Lys2461Asn)
c.7302A>C (p.Lys2434Asn)
n.6653A>C
c.7311A>C (p.Lys2437Asn)
c.7188A>C (p.Lys2396Asn)
n.1438A>C
c.4794A>C (p.Lys1598Asn)
c.7407A>C (p.Lys2469Asn)
c.5217A>C (p.Lys1739Asn)
c.4893A>C (p.Lys1631Asn)
11g.118503203A>GCA477359305KMT2Ac.7410A>G (p.Lys2470=)
c.7401A>G (p.Lys2467=)
c.1350A>G (p.Lys450=)
c.1608A>G (p.Lys536=)
c.7383A>G (p.Lys2461=)
c.7302A>G (p.Lys2434=)
n.6653A>G
c.7311A>G (p.Lys2437=)
c.7188A>G (p.Lys2396=)
n.1438A>G
c.4794A>G (p.Lys1598=)
c.7407A>G (p.Lys2469=)
c.5217A>G (p.Lys1739=)
c.4893A>G (p.Lys1631=)
11g.118503203A>TCA382805067KMT2Ac.7410A>T (p.Lys2470Asn)
c.7401A>T (p.Lys2467Asn)
c.1350A>T (p.Lys450Asn)
c.1608A>T (p.Lys536Asn)
c.7383A>T (p.Lys2461Asn)
c.7302A>T (p.Lys2434Asn)
n.6653A>T
c.7311A>T (p.Lys2437Asn)
c.7188A>T (p.Lys2396Asn)
n.1438A>T
c.4794A>T (p.Lys1598Asn)
c.7407A>T (p.Lys2469Asn)
c.5217A>T (p.Lys1739Asn)
c.4893A>T (p.Lys1631Asn)
11g.118503204G>ACA382805069KMT2Ac.7411G>A (p.Glu2471Lys)
c.7402G>A (p.Glu2468Lys)
c.1351G>A (p.Glu451Lys)
c.1609G>A (p.Glu537Lys)
c.7384G>A (p.Glu2462Lys)
c.7303G>A (p.Glu2435Lys)
n.6654G>A
c.7312G>A (p.Glu2438Lys)
c.7189G>A (p.Glu2397Lys)
n.1439G>A
c.4795G>A (p.Glu1599Lys)
c.7408G>A (p.Glu2470Lys)
c.5218G>A (p.Glu1740Lys)
c.4894G>A (p.Glu1632Lys)
11g.118503204G>CCA382805071KMT2Ac.7411G>C (p.Glu2471Gln)
c.7402G>C (p.Glu2468Gln)
c.1351G>C (p.Glu451Gln)
c.1609G>C (p.Glu537Gln)
c.7384G>C (p.Glu2462Gln)
c.7303G>C (p.Glu2435Gln)
n.6654G>C
c.7312G>C (p.Glu2438Gln)
c.7189G>C (p.Glu2397Gln)
n.1439G>C
c.4795G>C (p.Glu1599Gln)
c.7408G>C (p.Glu2470Gln)
c.5218G>C (p.Glu1740Gln)
c.4894G>C (p.Glu1632Gln)
11g.118503204G>TCA382805070KMT2Ac.7411G>T (p.Glu2471Ter)
c.7402G>T (p.Glu2468Ter)
c.1351G>T (p.Glu451Ter)
c.1609G>T (p.Glu537Ter)
c.7384G>T (p.Glu2462Ter)
c.7303G>T (p.Glu2435Ter)
n.6654G>T
c.7312G>T (p.Glu2438Ter)
c.7189G>T (p.Glu2397Ter)
n.1439G>T
c.4795G>T (p.Glu1599Ter)
c.7408G>T (p.Glu2470Ter)
c.5218G>T (p.Glu1740Ter)
c.4894G>T (p.Glu1632Ter)
11g.118503205A>CCA382805072KMT2Ac.7412A>C (p.Glu2471Ala)
c.7403A>C (p.Glu2468Ala)
c.1352A>C (p.Glu451Ala)
c.1610A>C (p.Glu537Ala)
c.7385A>C (p.Glu2462Ala)
c.7304A>C (p.Glu2435Ala)
n.6655A>C
c.7313A>C (p.Glu2438Ala)
c.7190A>C (p.Glu2397Ala)
n.1440A>C
c.4796A>C (p.Glu1599Ala)
c.7409A>C (p.Glu2470Ala)
c.5219A>C (p.Glu1740Ala)
c.4895A>C (p.Glu1632Ala)
11g.118503205A>GCA382805073KMT2Ac.7412A>G (p.Glu2471Gly)
c.7403A>G (p.Glu2468Gly)
c.1352A>G (p.Glu451Gly)
c.1610A>G (p.Glu537Gly)
c.7385A>G (p.Glu2462Gly)
c.7304A>G (p.Glu2435Gly)
n.6655A>G
c.7313A>G (p.Glu2438Gly)
c.7190A>G (p.Glu2397Gly)
n.1440A>G
c.4796A>G (p.Glu1599Gly)
c.7409A>G (p.Glu2470Gly)
c.5219A>G (p.Glu1740Gly)
c.4895A>G (p.Glu1632Gly)
11g.118503205A>TCA382805075KMT2Ac.7412A>T (p.Glu2471Val)
c.7403A>T (p.Glu2468Val)
c.1352A>T (p.Glu451Val)
c.1610A>T (p.Glu537Val)
c.7385A>T (p.Glu2462Val)
c.7304A>T (p.Glu2435Val)
n.6655A>T
c.7313A>T (p.Glu2438Val)
c.7190A>T (p.Glu2397Val)
n.1440A>T
c.4796A>T (p.Glu1599Val)
c.7409A>T (p.Glu2470Val)
c.5219A>T (p.Glu1740Val)
c.4895A>T (p.Glu1632Val)
11g.118503206A>CCA382805076KMT2Ac.7413A>C (p.Glu2471Asp)
c.7404A>C (p.Glu2468Asp)
c.1353A>C (p.Glu451Asp)
c.1611A>C (p.Glu537Asp)
c.7386A>C (p.Glu2462Asp)
c.7305A>C (p.Glu2435Asp)
n.6656A>C
c.7314A>C (p.Glu2438Asp)
c.7191A>C (p.Glu2397Asp)
n.1441A>C
c.4797A>C (p.Glu1599Asp)
c.7410A>C (p.Glu2470Asp)
c.5220A>C (p.Glu1740Asp)
c.4896A>C (p.Glu1632Asp)
11g.118503206A>GCA477359310KMT2Ac.7413A>G (p.Glu2471=)
c.7404A>G (p.Glu2468=)
c.1353A>G (p.Glu451=)
c.1611A>G (p.Glu537=)
c.7386A>G (p.Glu2462=)
c.7305A>G (p.Glu2435=)
n.6656A>G
c.7314A>G (p.Glu2438=)
c.7191A>G (p.Glu2397=)
n.1441A>G
c.4797A>G (p.Glu1599=)
c.7410A>G (p.Glu2470=)
c.5220A>G (p.Glu1740=)
c.4896A>G (p.Glu1632=)
11g.118503206A>TCA382805077KMT2Ac.7413A>T (p.Glu2471Asp)
c.7404A>T (p.Glu2468Asp)
c.1353A>T (p.Glu451Asp)
c.1611A>T (p.Glu537Asp)
c.7386A>T (p.Glu2462Asp)
c.7305A>T (p.Glu2435Asp)
n.6656A>T
c.7314A>T (p.Glu2438Asp)
c.7191A>T (p.Glu2397Asp)
n.1441A>T
c.4797A>T (p.Glu1599Asp)
c.7410A>T (p.Glu2470Asp)
c.5220A>T (p.Glu1740Asp)
c.4896A>T (p.Glu1632Asp)
11g.118503207A>CCA382805079KMT2Ac.7414A>C (p.Thr2472Pro)
c.7405A>C (p.Thr2469Pro)
c.1354A>C (p.Thr452Pro)
c.1612A>C (p.Thr538Pro)
c.7387A>C (p.Thr2463Pro)
c.7306A>C (p.Thr2436Pro)
n.6657A>C
c.7315A>C (p.Thr2439Pro)
c.7192A>C (p.Thr2398Pro)
n.1442A>C
c.4798A>C (p.Thr1600Pro)
c.7411A>C (p.Thr2471Pro)
c.5221A>C (p.Thr1741Pro)
c.4897A>C (p.Thr1633Pro)
11g.118503207A>GCA382805081KMT2Ac.7414A>G (p.Thr2472Ala)
c.7405A>G (p.Thr2469Ala)
c.1354A>G (p.Thr452Ala)
c.1612A>G (p.Thr538Ala)
c.7387A>G (p.Thr2463Ala)
c.7306A>G (p.Thr2436Ala)
n.6657A>G
c.7315A>G (p.Thr2439Ala)
c.7192A>G (p.Thr2398Ala)
n.1442A>G
c.4798A>G (p.Thr1600Ala)
c.7411A>G (p.Thr2471Ala)
c.5221A>G (p.Thr1741Ala)
c.4897A>G (p.Thr1633Ala)
11g.118503207A>TCA382805082KMT2Ac.7414A>T (p.Thr2472Ser)
c.7405A>T (p.Thr2469Ser)
c.1354A>T (p.Thr452Ser)
c.1612A>T (p.Thr538Ser)
c.7387A>T (p.Thr2463Ser)
c.7306A>T (p.Thr2436Ser)
n.6657A>T
c.7315A>T (p.Thr2439Ser)
c.7192A>T (p.Thr2398Ser)
n.1442A>T
c.4798A>T (p.Thr1600Ser)
c.7411A>T (p.Thr2471Ser)
c.5221A>T (p.Thr1741Ser)
c.4897A>T (p.Thr1633Ser)
 gnomAD v4
11g.118503208C>ACA382805083KMT2Ac.7415C>A (p.Thr2472Asn)
c.7406C>A (p.Thr2469Asn)
c.1355C>A (p.Thr452Asn)
c.1613C>A (p.Thr538Asn)
c.7388C>A (p.Thr2463Asn)
c.7307C>A (p.Thr2436Asn)
n.6658C>A
c.7316C>A (p.Thr2439Asn)
c.7193C>A (p.Thr2398Asn)
n.1443C>A
c.4799C>A (p.Thr1600Asn)
c.7412C>A (p.Thr2471Asn)
c.5222C>A (p.Thr1741Asn)
c.4898C>A (p.Thr1633Asn)
11g.118503208C>GCA382805084KMT2Ac.7415C>G (p.Thr2472Ser)
c.7406C>G (p.Thr2469Ser)
c.1355C>G (p.Thr452Ser)
c.1613C>G (p.Thr538Ser)
c.7388C>G (p.Thr2463Ser)
c.7307C>G (p.Thr2436Ser)
n.6658C>G
c.7316C>G (p.Thr2439Ser)
c.7193C>G (p.Thr2398Ser)
n.1443C>G
c.4799C>G (p.Thr1600Ser)
c.7412C>G (p.Thr2471Ser)
c.5222C>G (p.Thr1741Ser)
c.4898C>G (p.Thr1633Ser)
11g.118503208C>TCA382805085KMT2Ac.7415C>T (p.Thr2472Ile)
c.7406C>T (p.Thr2469Ile)
c.1355C>T (p.Thr452Ile)
c.1613C>T (p.Thr538Ile)
c.7388C>T (p.Thr2463Ile)
c.7307C>T (p.Thr2436Ile)
n.6658C>T
c.7316C>T (p.Thr2439Ile)
c.7193C>T (p.Thr2398Ile)
n.1443C>T
c.4799C>T (p.Thr1600Ile)
c.7412C>T (p.Thr2471Ile)
c.5222C>T (p.Thr1741Ile)
c.4898C>T (p.Thr1633Ile)
11g.118503209T>ACA477359314KMT2Ac.7416T>A (p.Thr2472=)
c.7407T>A (p.Thr2469=)
c.1356T>A (p.Thr452=)
c.1614T>A (p.Thr538=)
c.7389T>A (p.Thr2463=)
c.7308T>A (p.Thr2436=)
n.6659T>A
c.7317T>A (p.Thr2439=)
c.7194T>A (p.Thr2398=)
n.1444T>A
c.4800T>A (p.Thr1600=)
c.7413T>A (p.Thr2471=)
c.5223T>A (p.Thr1741=)
c.4899T>A (p.Thr1633=)
11g.118503209T>CCA477359312KMT2Ac.7416T>C (p.Thr2472=)
c.7407T>C (p.Thr2469=)
c.1356T>C (p.Thr452=)
c.1614T>C (p.Thr538=)
c.7389T>C (p.Thr2463=)
c.7308T>C (p.Thr2436=)
n.6659T>C
c.7317T>C (p.Thr2439=)
c.7194T>C (p.Thr2398=)
n.1444T>C
c.4800T>C (p.Thr1600=)
c.7413T>C (p.Thr2471=)
c.5223T>C (p.Thr1741=)
c.4899T>C (p.Thr1633=)
11g.118503209T>GCA477359313KMT2Ac.7416T>G (p.Thr2472=)
c.7407T>G (p.Thr2469=)
c.1356T>G (p.Thr452=)
c.1614T>G (p.Thr538=)
c.7389T>G (p.Thr2463=)
c.7308T>G (p.Thr2436=)
n.6659T>G
c.7317T>G (p.Thr2439=)
c.7194T>G (p.Thr2398=)
n.1444T>G
c.4800T>G (p.Thr1600=)
c.7413T>G (p.Thr2471=)
c.5223T>G (p.Thr1741=)
c.4899T>G (p.Thr1633=)
11g.118503210T>ACA382805090KMT2Ac.7417T>A (p.Phe2473Ile)
c.7408T>A (p.Phe2470Ile)
c.1357T>A (p.Phe453Ile)
c.1615T>A (p.Phe539Ile)
c.7390T>A (p.Phe2464Ile)
c.7309T>A (p.Phe2437Ile)
n.6660T>A
c.7318T>A (p.Phe2440Ile)
c.7195T>A (p.Phe2399Ile)
n.1445T>A
c.4801T>A (p.Phe1601Ile)
c.7414T>A (p.Phe2472Ile)
c.5224T>A (p.Phe1742Ile)
c.4900T>A (p.Phe1634Ile)
11g.118503210T>CCA382805087KMT2Ac.7417T>C (p.Phe2473Leu)
c.7408T>C (p.Phe2470Leu)
c.1357T>C (p.Phe453Leu)
c.1615T>C (p.Phe539Leu)
c.7390T>C (p.Phe2464Leu)
c.7309T>C (p.Phe2437Leu)
n.6660T>C
c.7318T>C (p.Phe2440Leu)
c.7195T>C (p.Phe2399Leu)
n.1445T>C
c.4801T>C (p.Phe1601Leu)
c.7414T>C (p.Phe2472Leu)
c.5224T>C (p.Phe1742Leu)
c.4900T>C (p.Phe1634Leu)
11g.118503210T>GCA382805089KMT2Ac.7417T>G (p.Phe2473Val)
c.7408T>G (p.Phe2470Val)
c.1357T>G (p.Phe453Val)
c.1615T>G (p.Phe539Val)
c.7390T>G (p.Phe2464Val)
c.7309T>G (p.Phe2437Val)
n.6660T>G
c.7318T>G (p.Phe2440Val)
c.7195T>G (p.Phe2399Val)
n.1445T>G
c.4801T>G (p.Phe1601Val)
c.7414T>G (p.Phe2472Val)
c.5224T>G (p.Phe1742Val)
c.4900T>G (p.Phe1634Val)
 dbSNP
11g.118503210T=CA2003527577KMT2Ac.7417T= (p.Phe2473=)
c.7408T= (p.Phe2470=)
c.1357T= (p.Phe453=)
c.1615T= (p.Phe539=)
c.7390T= (p.Phe2464=)
c.7309T= (p.Phe2437=)
n.6660T=
c.7318T= (p.Phe2440=)
c.7195T= (p.Phe2399=)
n.1445T=
c.4801T= (p.Phe1601=)
c.7414T= (p.Phe2472=)
c.5224T= (p.Phe1742=)
c.4900T= (p.Phe1634=)
11g.118503211T>ACA6304387KMT2Ac.7418T>A (p.Phe2473Tyr)
c.7409T>A (p.Phe2470Tyr)
c.1358T>A (p.Phe453Tyr)
c.1616T>A (p.Phe539Tyr)
c.7391T>A (p.Phe2464Tyr)
c.7310T>A (p.Phe2437Tyr)
n.6661T>A
c.7319T>A (p.Phe2440Tyr)
c.7196T>A (p.Phe2399Tyr)
n.1446T>A
c.4802T>A (p.Phe1601Tyr)
c.7415T>A (p.Phe2472Tyr)
c.5225T>A (p.Phe1742Tyr)
c.4901T>A (p.Phe1634Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118503211T>CCA382805093KMT2Ac.7418T>C (p.Phe2473Ser)
c.7409T>C (p.Phe2470Ser)
c.1358T>C (p.Phe453Ser)
c.1616T>C (p.Phe539Ser)
c.7391T>C (p.Phe2464Ser)
c.7310T>C (p.Phe2437Ser)
n.6661T>C
c.7319T>C (p.Phe2440Ser)
c.7196T>C (p.Phe2399Ser)
n.1446T>C
c.4802T>C (p.Phe1601Ser)
c.7415T>C (p.Phe2472Ser)
c.5225T>C (p.Phe1742Ser)
c.4901T>C (p.Phe1634Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.118503211T>GCA382805094KMT2Ac.7418T>G (p.Phe2473Cys)
c.7409T>G (p.Phe2470Cys)
c.1358T>G (p.Phe453Cys)
c.1616T>G (p.Phe539Cys)
c.7391T>G (p.Phe2464Cys)
c.7310T>G (p.Phe2437Cys)
n.6661T>G
c.7319T>G (p.Phe2440Cys)
c.7196T>G (p.Phe2399Cys)
n.1446T>G
c.4802T>G (p.Phe1601Cys)
c.7415T>G (p.Phe2472Cys)
c.5225T>G (p.Phe1742Cys)
c.4901T>G (p.Phe1634Cys)
11g.118503211T=CA2003527583KMT2Ac.7418T= (p.Phe2473=)
c.7409T= (p.Phe2470=)
c.1358T= (p.Phe453=)
c.1616T= (p.Phe539=)
c.7391T= (p.Phe2464=)
c.7310T= (p.Phe2437=)
n.6661T=
c.7319T= (p.Phe2440=)
c.7196T= (p.Phe2399=)
n.1446T=
c.4802T= (p.Phe1601=)
c.7415T= (p.Phe2472=)
c.5225T= (p.Phe1742=)
c.4901T= (p.Phe1634=)
11g.118503212C>ACA382805096KMT2Ac.7419C>A (p.Phe2473Leu)
c.7410C>A (p.Phe2470Leu)
c.1359C>A (p.Phe453Leu)
c.1617C>A (p.Phe539Leu)
c.7392C>A (p.Phe2464Leu)
c.7311C>A (p.Phe2437Leu)
n.6662C>A
c.7320C>A (p.Phe2440Leu)
c.7197C>A (p.Phe2399Leu)
n.1447C>A
c.4803C>A (p.Phe1601Leu)
c.7416C>A (p.Phe2472Leu)
c.5226C>A (p.Phe1742Leu)
c.4902C>A (p.Phe1634Leu)
 gnomAD v4
11g.118503212C=CA2003527587KMT2Ac.7419C= (p.Phe2473=)
c.7410C= (p.Phe2470=)
c.1359C= (p.Phe453=)
c.1617C= (p.Phe539=)
c.7392C= (p.Phe2464=)
c.7311C= (p.Phe2437=)
n.6662C=
c.7320C= (p.Phe2440=)
c.7197C= (p.Phe2399=)
n.1447C=
c.4803C= (p.Phe1601=)
c.7416C= (p.Phe2472=)
c.5226C= (p.Phe1742=)
c.4902C= (p.Phe1634=)
11g.118503212C>GCA382805098KMT2Ac.7419C>G (p.Phe2473Leu)
c.7410C>G (p.Phe2470Leu)
c.1359C>G (p.Phe453Leu)
c.1617C>G (p.Phe539Leu)
c.7392C>G (p.Phe2464Leu)
c.7311C>G (p.Phe2437Leu)
n.6662C>G
c.7320C>G (p.Phe2440Leu)
c.7197C>G (p.Phe2399Leu)
n.1447C>G
c.4803C>G (p.Phe1601Leu)
c.7416C>G (p.Phe2472Leu)
c.5226C>G (p.Phe1742Leu)
c.4902C>G (p.Phe1634Leu)
 dbSNP gnomAD v4
11g.118503212C>TCA477359316KMT2Ac.7419C>T (p.Phe2473=)
c.7410C>T (p.Phe2470=)
c.1359C>T (p.Phe453=)
c.1617C>T (p.Phe539=)
c.7392C>T (p.Phe2464=)
c.7311C>T (p.Phe2437=)
n.6662C>T
c.7320C>T (p.Phe2440=)
c.7197C>T (p.Phe2399=)
n.1447C>T
c.4803C>T (p.Phe1601=)
c.7416C>T (p.Phe2472=)
c.5226C>T (p.Phe1742=)
c.4902C>T (p.Phe1634=)
 dbSNP
11g.118503213A>CCA382805099KMT2Ac.7420A>C (p.Lys2474Gln)
c.7411A>C (p.Lys2471Gln)
c.1360A>C (p.Lys454Gln)
c.1618A>C (p.Lys540Gln)
c.7393A>C (p.Lys2465Gln)
c.7312A>C (p.Lys2438Gln)
n.6663A>C
c.7321A>C (p.Lys2441Gln)
c.7198A>C (p.Lys2400Gln)
n.1448A>C
c.4804A>C (p.Lys1602Gln)
c.7417A>C (p.Lys2473Gln)
c.5227A>C (p.Lys1743Gln)
c.4903A>C (p.Lys1635Gln)
11g.118503213A>GCA382805101KMT2Ac.7420A>G (p.Lys2474Glu)
c.7411A>G (p.Lys2471Glu)
c.1360A>G (p.Lys454Glu)
c.1618A>G (p.Lys540Glu)
c.7393A>G (p.Lys2465Glu)
c.7312A>G (p.Lys2438Glu)
n.6663A>G
c.7321A>G (p.Lys2441Glu)
c.7198A>G (p.Lys2400Glu)
n.1448A>G
c.4804A>G (p.Lys1602Glu)
c.7417A>G (p.Lys2473Glu)
c.5227A>G (p.Lys1743Glu)
c.4903A>G (p.Lys1635Glu)
11g.118503213A>TCA382805102KMT2Ac.7420A>T (p.Lys2474Ter)
c.7411A>T (p.Lys2471Ter)
c.1360A>T (p.Lys454Ter)
c.1618A>T (p.Lys540Ter)
c.7393A>T (p.Lys2465Ter)
c.7312A>T (p.Lys2438Ter)
n.6663A>T
c.7321A>T (p.Lys2441Ter)
c.7198A>T (p.Lys2400Ter)
n.1448A>T
c.4804A>T (p.Lys1602Ter)
c.7417A>T (p.Lys2473Ter)
c.5227A>T (p.Lys1743Ter)
c.4903A>T (p.Lys1635Ter)
11g.118503214A>CCA382805104KMT2Ac.7421A>C (p.Lys2474Thr)
c.7412A>C (p.Lys2471Thr)
c.1361A>C (p.Lys454Thr)
c.1619A>C (p.Lys540Thr)
c.7394A>C (p.Lys2465Thr)
c.7313A>C (p.Lys2438Thr)
n.6664A>C
c.7322A>C (p.Lys2441Thr)
c.7199A>C (p.Lys2400Thr)
n.1449A>C
c.4805A>C (p.Lys1602Thr)
c.7418A>C (p.Lys2473Thr)
c.5228A>C (p.Lys1743Thr)
c.4904A>C (p.Lys1635Thr)
11g.118503214A>GCA382805106KMT2Ac.7421A>G (p.Lys2474Arg)
c.7412A>G (p.Lys2471Arg)
c.1361A>G (p.Lys454Arg)
c.1619A>G (p.Lys540Arg)
c.7394A>G (p.Lys2465Arg)
c.7313A>G (p.Lys2438Arg)
n.6664A>G
c.7322A>G (p.Lys2441Arg)
c.7199A>G (p.Lys2400Arg)
n.1449A>G
c.4805A>G (p.Lys1602Arg)
c.7418A>G (p.Lys2473Arg)
c.5228A>G (p.Lys1743Arg)
c.4904A>G (p.Lys1635Arg)
11g.118503214A>TCA382805107KMT2Ac.7421A>T (p.Lys2474Ile)
c.7412A>T (p.Lys2471Ile)
c.1361A>T (p.Lys454Ile)
c.1619A>T (p.Lys540Ile)
c.7394A>T (p.Lys2465Ile)
c.7313A>T (p.Lys2438Ile)
n.6664A>T
c.7322A>T (p.Lys2441Ile)
c.7199A>T (p.Lys2400Ile)
n.1449A>T
c.4805A>T (p.Lys1602Ile)
c.7418A>T (p.Lys2473Ile)
c.5228A>T (p.Lys1743Ile)
c.4904A>T (p.Lys1635Ile)
11g.118503215A>CCA382805111KMT2Ac.7422A>C (p.Lys2474Asn)
c.7413A>C (p.Lys2471Asn)
c.1362A>C (p.Lys454Asn)
c.1620A>C (p.Lys540Asn)
c.7395A>C (p.Lys2465Asn)
c.7314A>C (p.Lys2438Asn)
n.6665A>C
c.7323A>C (p.Lys2441Asn)
c.7200A>C (p.Lys2400Asn)
n.1450A>C
c.4806A>C (p.Lys1602Asn)
c.7419A>C (p.Lys2473Asn)
c.5229A>C (p.Lys1743Asn)
c.4905A>C (p.Lys1635Asn)
11g.118503215A>GCA477359320KMT2Ac.7422A>G (p.Lys2474=)
c.7413A>G (p.Lys2471=)
c.1362A>G (p.Lys454=)
c.1620A>G (p.Lys540=)
c.7395A>G (p.Lys2465=)
c.7314A>G (p.Lys2438=)
n.6665A>G
c.7323A>G (p.Lys2441=)
c.7200A>G (p.Lys2400=)
n.1450A>G
c.4806A>G (p.Lys1602=)
c.7419A>G (p.Lys2473=)
c.5229A>G (p.Lys1743=)
c.4905A>G (p.Lys1635=)
11g.118503215A>TCA382805109KMT2Ac.7422A>T (p.Lys2474Asn)
c.7413A>T (p.Lys2471Asn)
c.1362A>T (p.Lys454Asn)
c.1620A>T (p.Lys540Asn)
c.7395A>T (p.Lys2465Asn)
c.7314A>T (p.Lys2438Asn)
n.6665A>T
c.7323A>T (p.Lys2441Asn)
c.7200A>T (p.Lys2400Asn)
n.1450A>T
c.4806A>T (p.Lys1602Asn)
c.7419A>T (p.Lys2473Asn)
c.5229A>T (p.Lys1743Asn)
c.4905A>T (p.Lys1635Asn)

Number of alleles fetched