NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser)
|
rs79691946
|
0.03108
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
|
rs28936700
|
0.00017
|
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)
|
rs80358194
|
0.00016
|
NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter)
|
rs369535598
|
0.00001
|
NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys)
|
rs587777572
|
0.00001
|
FOXC1, 22-BP INS, NT26
|
|
|
FOXC1, DUP
|
|
|
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr)
|
rs72549389
|
|
NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs)
|
rs2125316235
|
|
NM_000104.4(CYP1B1):c.535del (p.Ala179fs)
|
rs771076928
|
|
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)
|
rs766425037
|
|
NM_000325.6(PITX2):c.365G>A (p.Arg122His)
|
rs104893861
|
|
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp)
|
rs121909248
|
|
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp)
|
rs121907921
|
|
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter)
|
rs878853172
|
|
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter)
|
rs878853171
|
|
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly)
|
rs878853177
|
|
NM_001378452.1(ITPR1):c.6510+3A>T
|
rs878853173
|
|
NM_001378452.1(ITPR1):c.6808+5G>T
|
rs878853174
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg)
|
rs752281590
|
|
NM_001378452.1(ITPR1):c.7793T>A (p.Ile2598Asn)
|
rs1553758021
|
|
NM_001378452.1(ITPR1):c.7803T>G (p.Phe2601Leu)
|
rs878853176
|
|
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del)
|
rs878853175
|
|
NM_001453.3(FOXC1):c.153_163del (p.His52fs)
|
rs2113111009
|
|
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)
|
rs104893953
|
|
NM_001453.3(FOXC1):c.261C>G (p.Ile87Met)
|
rs104893954
|
|
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)
|
rs104893951
|
|
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)
|
rs121909339
|
|
NM_001453.3(FOXC1):c.378C>G (p.Ile126Met)
|
rs104893958
|
|
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)
|
rs121909338
|
|
NM_001453.3(FOXC1):c.392C>T (p.Ser131Leu)
|
rs104893957
|
|
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)
|
rs104893952
|
|
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)
|
rs1411557416
|
|
NM_012186.3(FOXE3):c.942dup (p.Leu315fs)
|
rs1570406175
|
|
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu)
|
rs387906793
|
|
NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs)
|
rs587777573
|
|
NM_012293.3(PXDN):c.2568del (p.Cys857fs)
|
rs558163499
|
|
NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs)
|
rs756064750
|
|
NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro)
|
rs1057519340
|
|
NM_015692.5(CPAMD8):c.4408-1G>A
|
rs369858688
|
|