NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)
|
rs34593559
|
0.00737
|
NM_001109878.2(TBX22):c.459-5T>A
|
rs200060292
|
0.00020
|
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)
|
rs765379963
|
0.00002
|
NM_003722.5(TP63):c.727C>T (p.Arg243Trp)
|
rs121908835
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
46;X;t(X;5)(p11.23;q35)dn
|
|
|
46;XX;ins(5;6)(p13;p24p25)dn
|
|
|
NM_001080517.3(SETD5):c.2168dup (p.Leu723fs)
|
rs2042262374
|
|
NM_001109878.2(TBX22):c.1252del (p.Val418fs)
|
rs1602414282
|
|
NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter)
|
rs104894945
|
|
NM_001109878.2(TBX22):c.352G>T (p.Gly118Cys)
|
rs104894944
|
|
NM_001109878.2(TBX22):c.584_586dup (p.Ser195_Phe196insCys)
|
rs1602410858
|
|
NM_001109878.2(TBX22):c.633+1G>A
|
rs1602410916
|
|
NM_001109878.2(TBX22):c.641T>C (p.Leu214Pro)
|
rs104894946
|
|
NM_001109878.2(TBX22):c.667del (p.Arg223fs)
|
|
|
NM_001109878.2(TBX22):c.779C>T (p.Thr260Met)
|
rs104894943
|
|
NM_001109878.2(TBX22):c.790A>T (p.Asn264Tyr)
|
rs28935177
|
|
NM_001109878.2(TBX22):c.863+1G>C
|
rs1602411954
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)
|
rs1553544133
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr)
|
rs121908845
|
|
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro)
|
rs121908846
|
|
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr)
|
rs1577213466
|
|
NM_003722.5(TP63):c.1827del (p.Glu609fs)
|
rs2108873431
|
|
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
|
|
|
NM_003722.5(TP63):c.1900del (p.Arg634fs)
|
rs2108874029
|
|
NM_003722.5(TP63):c.1976del (p.Asn659fs)
|
rs2108874645
|
|
NM_003722.5(TP63):c.953G>A (p.Arg318His)
|
rs121908840
|
|
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)
|
rs28942094
|
|
NM_012233.3(RAB3GAP1):c.151-5T>G
|
rs1690127143
|
|
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)
|
rs2123136215
|
|
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)
|
rs121918130
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
NM_033419.5(PGAP3):c.851A>G (p.His284Arg)
|
rs776720232
|
|
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)
|
rs1554034812
|
|
NM_152424.4(AMER1):c.1489del (p.Arg497fs)
|
rs1602067592
|
|
NM_198173.3(GRHL3):c.1172G>A (p.Arg391His)
|
rs1315515436
|
|
NM_198173.3(GRHL3):c.1285+2del
|
rs886037770
|
|
NM_198173.3(GRHL3):c.738C>T (p.Gly246=)
|
rs886037767
|
|
NM_198173.3(GRHL3):c.840+1G>T
|
rs886037768
|
|
NM_198173.3(GRHL3):c.916dup (p.Arg306fs)
|
rs886037769
|
|