NM_015461.3(ZNF521):c.698C>T (p.Ser233Phe)
|
rs200375993
|
0.00036
|
NM_015378.4(VPS13D):c.9799C>T (p.Arg3267Trp)
|
rs140427465
|
0.00035
|
NM_015461.3(ZNF521):c.2211T>G (p.Ile737Met)
|
rs367580254
|
0.00019
|
NM_053004.3(GNB1L):c.763G>A (p.Gly255Arg)
|
rs543257514
|
0.00005
|
NM_015378.4(VPS13D):c.8434T>C (p.Tyr2812His)
|
rs774443148
|
0.00003
|
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val)
|
rs1159957403
|
0.00001
|
NM_005647.4(TBL1X):c.233C>T (p.Thr78Met)
|
rs1464370959
|
0.00001
|
NM_014370.4(SRPK3):c.23G>A (p.Gly8Asp)
|
rs1213993811
|
0.00001
|
NM_015902.6(UBR5):c.6590G>C (p.Gly2197Ala)
|
rs1490547632
|
0.00001
|
GRCh37/hg19 22q11.23(chr22:23605575-23984194)x5
|
|
|
NC_000001.11:g.212950566_213249878del
|
|
|
NC_000006.12:g.107174371_107825273del
|
|
|
NM_000141.5(FGFR2):c.149A>T (p.Tyr50Phe)
|
rs1398842143
|
|
NM_000718.4(CACNA1B):c.175T>C (p.Tyr59His)
|
rs1564867162
|
|
NM_001005273.3(CHD3):c.887T>C (p.Leu296Pro)
|
rs1567841825
|
|
NM_001008938.4(CKAP5):c.1625C>T (p.Pro542Leu)
|
rs1565739639
|
|
NM_001046.3(SLC12A2):c.397G>C (p.Glu133Gln)
|
rs1561645014
|
|
NM_001098797.2(TOX2):c.666G>T (p.Lys222Asn)
|
rs1569140429
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg)
|
rs1561969930
|
|
NM_001318852.2(MAPK8IP3):c.1291C>T (p.Leu431Phe)
|
rs1567198234
|
|
NM_001393769.1(MED12L):c.348G>T (p.Trp116Cys)
|
rs1560069336
|
|
NM_001394998.1(TANC2):c.3689G>T (p.Gly1230Val)
|
rs1567997298
|
|
NM_001394998.1(TANC2):c.5597T>G (p.Phe1866Cys)
|
rs1568008510
|
|
NM_001395490.1(TRERF1):c.3000del (p.Pro1001fs)
|
rs1562112466
|
|
NM_001655.5(ARCN1):c.853A>G (p.Thr285Ala)
|
rs1565363815
|
|
NM_001669.4(ARSD):c.42del (p.Arg15fs)
|
rs1220210716
|
|
NM_001670.3(ARVCF):c.726_730del (p.Gly243fs)
|
rs768824268
|
|
NM_002744.6(PRKCZ):c.778C>T (p.Arg260Cys)
|
rs887317345
|
|
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys)
|
rs1057524239
|
|
NM_002941.4(ROBO1):c.3503_3505dup (p.Gly1168dup)
|
rs148625921
|
|
NM_003024.3(ITSN1):c.1222G>T (p.Glu408Ter)
|
rs1569146163
|
|
NM_003185.4(TAF4):c.2160del (p.Val721fs)
|
rs1568929831
|
|
NM_005577.4(LPA):c.2604-1G>C
|
rs1287761737
|
|
NM_005647.4(TBL1X):c.1237-3C>G
|
rs199823517
|
|
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)
|
rs1553154062
|
|
NM_012281.3(KCND2):c.1238A>G (p.Tyr413Cys)
|
rs1562923143
|
|
NM_012310.5(KIF4A):c.1745T>A (p.Leu582His)
|
rs1045363046
|
|
NM_012310.5(KIF4A):c.3595G>A (p.Glu1199Lys)
|
rs1569256395
|
|
NM_014253.3(TENM1):c.3143C>T (p.Thr1048Met)
|
rs1569536039
|
|
NM_014712.3(SETD1A):c.503A>T (p.Gln168Leu)
|
rs1567349896
|
|
NM_015001.3(SPEN):c.2194C>T (p.Arg732Ter)
|
rs751475729
|
|
NM_015080.4(NRXN2):c.3403+5509C>T
|
rs1565266940
|
|
NM_015279.2(TBC1D30):c.595-1G>T
|
rs1295631624
|
|
NM_016019.5(LUC7L2):c.367-443_763del
|
|
|
NM_016284.5(CNOT1):c.1188T>A (p.Tyr396Ter)
|
rs1567420855
|
|
NM_017619.4(RNPC3):c.177del (p.Asp60fs)
|
rs1557754254
|
|
NM_018221.5(MOB1A):c.431_432del (p.Phe144fs)
|
rs1558830933
|
|
NM_018897.3(DNAH7):c.10576C>T (p.Pro3526Ser)
|
rs1559101390
|
|
NM_020719.3(PRR12):c.5187del (p.Glu1730fs)
|
rs1568430264
|
|
NM_032236.8(USP48):c.1562C>T (p.Pro521Leu)
|
rs1161705890
|
|
NM_138576.4(BCL11B):c.1097G>A (p.Arg366Gln)
|
rs1566794698
|
|
NM_201599.3(ZMYM3):c.1470+6G>C
|
rs1569225762
|
|
Single allele
|
|
|