NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001321075.3(DLG4):c.1018_1025del (p.Phe340fs)
|
rs1597453595
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
NM_001321075.3(DLG4):c.1084-1G>T
|
rs2142844164
|
|
NM_001321075.3(DLG4):c.1102C>T (p.Arg368Ter)
|
rs1597452702
|
|
NM_001321075.3(DLG4):c.1195C>T (p.Arg399Ter)
|
rs2069779430
|
|
NM_001321075.3(DLG4):c.1201G>T (p.Glu401Ter)
|
rs2069778929
|
|
NM_001321075.3(DLG4):c.129del (p.Asp43fs)
|
|
|
NM_001321075.3(DLG4):c.1434dup (p.Asp479Ter)
|
rs2069660959
|
|
NM_001321075.3(DLG4):c.1458del (p.Phe487fs)
|
rs2142830670
|
|
NM_001321075.3(DLG4):c.1478+2T>C
|
rs542036630
|
|
NM_001321075.3(DLG4):c.1478+4_1478+19del
|
rs2142830394
|
|
NM_001321075.3(DLG4):c.1486C>T (p.Arg496Ter)
|
rs2142828228
|
|
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs)
|
rs869312859
|
|
NM_001321075.3(DLG4):c.1496G>A (p.Trp499Ter)
|
rs1160688414
|
|
NM_001321075.3(DLG4):c.1497G>A (p.Trp499Ter)
|
rs2142828170
|
|
NM_001321075.3(DLG4):c.1592-1G>A
|
rs2142825829
|
|
NM_001321075.3(DLG4):c.1672A>T (p.Lys558Ter)
|
rs2142825224
|
|
NM_001321075.3(DLG4):c.1693+1G>A
|
rs2142825211
|
|
NM_001321075.3(DLG4):c.1714del (p.Glu572fs)
|
rs1597442444
|
|
NM_001321075.3(DLG4):c.1757G>A (p.Arg586Gln)
|
rs2142821925
|
|
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)
|
rs2142821651
|
|
NM_001321075.3(DLG4):c.1849C>T (p.Arg617Ter)
|
rs767384318
|
|
NM_001321075.3(DLG4):c.1855del (p.Val619fs)
|
rs2142821587
|
|
NM_001321075.3(DLG4):c.1866+2T>C
|
rs2142821543
|
|
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)
|
rs1451196379
|
|
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter)
|
rs2142888007
|
|
NM_001321075.3(DLG4):c.2074_2078delinsT (p.Val692fs)
|
rs2142803273
|
|
NM_001321075.3(DLG4):c.211-2A>G
|
rs2142886707
|
|
NM_001321075.3(DLG4):c.218C>G (p.Ser73Ter)
|
rs2142886687
|
|
NM_001321075.3(DLG4):c.243dup (p.Gly82fs)
|
rs2142886600
|
|
NM_001321075.3(DLG4):c.319C>T (p.Gln107Ter)
|
rs2142886433
|
|
NM_001321075.3(DLG4):c.326del (p.Gly109fs)
|
rs1597472411
|
|
NM_001321075.3(DLG4):c.339del (p.Asn114fs)
|
rs2142885916
|
|
NM_001321075.3(DLG4):c.478G>T (p.Glu160Ter)
|
rs2142885279
|
|
NM_001321075.3(DLG4):c.525dup (p.Gly176fs)
|
rs1597471063
|
|
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)
|
rs2142884433
|
|
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)
|
rs2142884288
|
|
NM_001321075.3(DLG4):c.605del (p.Lys202fs)
|
rs1064795686
|
|
NM_001321075.3(DLG4):c.787+2T>C
|
rs2142881946
|
|
NM_001321075.3(DLG4):c.792T>A (p.Tyr264Ter)
|
rs2069827755
|
|
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter)
|
rs1182894684
|
|
NM_001321075.3(DLG4):c.990C>T (p.Gly330=)
|
rs769940216
|
|
NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter)
|
rs1553636520
|
|
NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)
|
|
|
NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)
|
rs2154256586
|
|
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter)
|
rs1554294593
|
|
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs)
|
rs35441529
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)
|
rs1557889974
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
NM_004859.4(CLTC):c.187C>T (p.Arg63Ter)
|
rs1598211790
|
|
NM_006852.6(TLK2):c.36del (p.Gln13fs)
|
rs2144334211
|
|
NM_057175.5(NAA15):c.1754-2A>G
|
rs1748397238
|
|
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
|
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs)
|
rs2138180455
|
|