|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
|
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)
|
rs104894164
|
|
|
NM_001002295.2(GATA3):c.431dup (p.His145fs)
|
rs1588377948
|
|
|
NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser)
|
rs767074039
|
|
|
NM_001002295.2(GATA3):c.896G>T (p.Arg299Leu)
|
rs2131501118
|
|
|
NM_001002295.2(GATA3):c.924+1G>A
|
|
|
|
NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)
|
rs1832898282
|
|
|
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
|
|
|
|
NM_001134673.4(NFIA):c.248del (p.Ile83fs)
|
rs2100414350
|
|
|
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
|
|
|
|
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
|
|
|
|
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
|
|
|
|
NM_001134673.4(NFIA):c.647G>C (p.Ser216Thr)
|
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
|
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
|
|
|
|
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del)
|
rs1388983985
|
|
|
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
|
|
|
|
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile)
|
rs1681444814
|
|
|
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
|
|
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
|
NM_002397.5(MEF2C):c.908del (p.Leu303fs)
|
|
|
|
NM_002397.5(MEF2C):c.939_940del (p.Ala314fs)
|
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
|
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
|
|
|
|
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala)
|
rs1224542564
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
|
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer)
|
rs2149846650
|
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
|
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)
|
rs1554199368
|
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
|
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
|
|
|
|
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
|
|
|
|
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
|
|
|
|
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)
|
rs2127257170
|
|
|
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His)
|
rs1391504793
|
|
|
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe)
|
rs1057516048
|
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
|
NM_022455.5(NSD1):c.7405del (p.Ala2469fs)
|
rs2127282737
|
|
|
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs)
|
rs2130223089
|
|
|
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg)
|
rs1816336903
|
|
|
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)
|
rs2130258570
|
|
|
NM_078480.3(PUF60):c.382_383del (p.Met128fs)
|
rs2130258214
|
|
|
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys)
|
rs2130257405
|
|
|
NM_078480.3(PUF60):c.510+1G>A
|
rs1816618311
|
|
|
NM_078480.3(PUF60):c.803_809del (p.Gly268fs)
|
rs2130244708
|
|
|
NM_078480.3(PUF60):c.860dup (p.Met287fs)
|
rs2130242101
|
|