NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)
|
rs80194531
|
0.01629
|
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)
|
rs118020901
|
0.00680
|
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)
|
rs185919705
|
0.00200
|
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)
|
rs181958589
|
0.00124
|
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)
|
rs267607066
|
0.00003
|
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
|
rs121909388
|
0.00001
|
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)
|
rs121909390
|
0.00001
|
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)
|
rs121909391
|
0.00001
|
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)
|
rs121909392
|
0.00001
|
NG_011716.2:g.54765TGC[51_?]
|
|
|
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)
|
rs267607065
|
|
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp)
|
rs121909389
|
|
NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG
|
rs869320617
|
|
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu)
|
rs267607064
|
|
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln)
|
rs121909387
|
|
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs)
|
rs869320720
|
|
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs)
|
rs1600618680
|
|
NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter)
|
rs2139794959
|
|
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
|
|
|
NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu)
|
|
|
NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)
|
|
|
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs)
|
rs1592143384
|
|
NM_001303461.1(OVOL2):c.-297+886T>C
|
rs869320628
|
|
NM_001303461.1(OVOL2):c.-297+895_-297+916dup
|
rs869320627
|
|
NM_001303461.1(OVOL2):c.-297+949T>C
|
rs869320629
|
|
NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)
|
rs80358192
|
|
NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)
|
rs80358191
|
|
NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)
|
rs727504229
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
NM_021220.4(OVOL2):c.-274T>G
|
rs869320630
|
|
NM_024915.4(GRHL2):c.20+133del
|
rs1554579819
|
|
NM_024915.4(GRHL2):c.20+544G>T
|
rs1554579878
|
|