NM_001368894.2(PAX6):c.141+1G>A
|
rs1554985714
|
0.00001
|
NM_001368894.2(PAX6):c.1075-2A>G
|
rs794726661
|
|
NM_001368894.2(PAX6):c.1081del (p.Val361fs)
|
rs1131691426
|
|
NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs)
|
rs1554982615
|
|
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)
|
rs1237278944
|
|
NM_001368894.2(PAX6):c.109del (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.109dup (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.111delinsTAGCTCACA (p.Arg38fs)
|
rs1592563502
|
|
NM_001368894.2(PAX6):c.1225+1G>T
|
rs1554982537
|
|
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC
|
|
|
NM_001368894.2(PAX6):c.141+2T>A
|
|
|
NM_001368894.2(PAX6):c.141+2T>G
|
rs1057517782
|
|
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg)
|
rs1131692293
|
|
NM_001368894.2(PAX6):c.201_204del (p.Ser68fs)
|
rs1131691570
|
|
NM_001368894.2(PAX6):c.241A>T (p.Arg81Ter)
|
rs775355156
|
|
NM_001368894.2(PAX6):c.321del (p.Glu107fs)
|
rs1554985335
|
|
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.373_377del (p.Val125fs)
|
rs1592542615
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399+2dup
|
rs1554985285
|
|
NM_001368894.2(PAX6):c.413del (p.Asn138fs)
|
rs886041221
|
|
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)
|
rs1953478890
|
|
NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter)
|
rs1592530126
|
|
NM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter)
|
rs2135040318
|
|
NM_001368894.2(PAX6):c.54del (p.Arg19fs)
|
rs2135153182
|
|
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter)
|
rs1554983586
|
|
NM_001368894.2(PAX6):c.593del (p.Gly198fs)
|
rs886041679
|
|
NM_001368894.2(PAX6):c.609dup (p.Ile204fs)
|
rs773606401
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001368894.2(PAX6):c.734_735del (p.Arg245fs)
|
rs2134613305
|
|
NM_001368894.2(PAX6):c.753_754del (p.Phe252fs)
|
rs1592421398
|
|
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
|
rs121907917
|
|
NM_001368894.2(PAX6):c.808-1G>T
|
rs1592416538
|
|
NM_001368894.2(PAX6):c.808-2A>C
|
rs1554983251
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
|
rs1131692314
|
|
NM_001368894.2(PAX6):c.844G>T (p.Glu282Ter)
|
rs1554983238
|
|
NM_001368894.2(PAX6):c.844_848del (p.Glu282fs)
|
|
|
NM_001368894.2(PAX6):c.866_867del (p.Arg289fs)
|
rs1592415625
|
|
NM_001368894.2(PAX6):c.958+1G>C
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.958+2T>C
|
rs1131691549
|
|
NM_001368894.2(PAX6):c.959-3C>G
|
rs1057523821
|
|
NM_001368894.2(PAX6):c.961del (p.Ser321fs)
|
rs2134582202
|
|
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
|