NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)
|
rs727503444
|
0.00007
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)
|
rs1057517359
|
|
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)
|
rs762354041
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.98+1G>T
|
rs750293380
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001134673.4(NFIA):c.70C>T (p.Arg24Ter)
|
rs1064794841
|
|
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)
|
rs886041847
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
|
rs794727176
|
|
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|