|
NM_005543.4(INSL3):c.178A>G (p.Thr60Ala)
|
rs6523
|
0.69975
|
|
NM_005543.4(INSL3):c.126A>G (p.Leu42=)
|
rs1047233
|
0.37456
|
|
NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro)
|
rs121918303
|
0.00472
|
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
|
NM_005543.4(INSL3):c.278C>T (p.Pro93Leu)
|
rs104894697
|
0.00030
|
|
NM_005543.4(INSL3):c.305G>A (p.Arg102His)
|
rs121912556
|
0.00022
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
|
NM_014462.3(LSM1):c.231+4A>C
|
rs775468919
|
0.00003
|
|
NM_005543.4(INSL3):c.304C>T (p.Arg102Cys)
|
rs104894698
|
0.00002
|
|
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
|
rs765379963
|
0.00002
|
|
NM_005543.4(INSL3):c.217C>T (p.Arg73Ter)
|
rs398122886
|
0.00001
|
|
46;XY;inv(10)(q11.2q24)dn
|
|
|
|
46;XY;t(16;20)(q11.2;q13.2)dn
|
|
|
|
46;XY;t(4;14)(p15.32;q32.1)dn
|
|
|
|
46;XY;t(5;15)(q11.2;q24)
|
|
|
|
46;XY;t(6;11)(p12.3;p14.2)dn
|
|
|
|
46;XY;t(6;12)(q14;q24);20p+dn
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18909044-21464119)
|
|
|
|
GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3
|
|
|
|
GRCh37/hg19 9q34.3(chr9:139284464-141018984)
|
|
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
|
NM_001365999.1(SZT2):c.5025-2A>G
|
rs1557569831
|
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
|
NM_004115.4(FGF14):c.486dup (p.Arg163fs)
|
rs1566823361
|
|
|
NM_005543.4(INSL3):c.191G>T (p.Arg64Leu)
|
|
|
|
NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)
|
rs121912555
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
|
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)
|
rs797045005
|
|
|
NM_012233.3(RAB3GAP1):c.151-5T>G
|
rs1690127143
|
|
|
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)
|
rs1554846212
|
|
|
NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)
|
rs1114167291
|
|
|
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)
|
rs1135402740
|
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
|
NM_032793.5(MFSD2A):c.229-25_229-23del
|
rs1570238098
|
|
|
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)
|
rs1057518944
|
|