NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)
|
rs759557055
|
0.00001
|
NM_001368894.2(PAX6):c.-118_-117del
|
rs1554986858
|
|
NM_001368894.2(PAX6):c.-122dup
|
rs2135311510
|
|
NM_001368894.2(PAX6):c.1074+6T>G
|
rs1131692316
|
|
NM_001368894.2(PAX6):c.1075-3C>G
|
rs886044223
|
|
NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu)
|
rs1592563636
|
|
NM_001368894.2(PAX6):c.107G>T (p.Gly36Val)
|
rs1592563636
|
|
NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del)
|
rs1592562717
|
|
NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser)
|
rs1592562910
|
|
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)
|
rs1592562836
|
|
NM_001368894.2(PAX6):c.141+4A>G
|
rs1131692290
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
NM_001368894.2(PAX6):c.184-14C>G
|
rs1131692291
|
|
NM_001368894.2(PAX6):c.184-5T>G
|
rs1131692292
|
|
NM_001368894.2(PAX6):c.19G>C (p.Gly7Arg)
|
rs1131692285
|
|
NM_001368894.2(PAX6):c.206A>C (p.Lys69Thr)
|
rs1131692294
|
|
NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro)
|
rs1592545972
|
|
NM_001368894.2(PAX6):c.216C>T (p.Gly72=)
|
rs763807196
|
|
NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro)
|
rs769095184
|
|
NM_001368894.2(PAX6):c.375C>A (p.Val125=)
|
rs1592542705
|
|
NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del)
|
rs1592542273
|
|
NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
|
|
NM_001368894.2(PAX6):c.425G>A (p.Arg142His)
|
rs1592531953
|
|
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu)
|
rs1592531953
|
|
NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs)
|
|
|
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys)
|
rs1388158419
|
|
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala)
|
rs1592564366
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001368894.2(PAX6):c.723A>G (p.Lys241=)
|
rs1592433022
|
|
NM_001368894.2(PAX6):c.725-5T>C
|
rs1592421981
|
|
NM_001368894.2(PAX6):c.725-9C>G
|
rs1592422097
|
|
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val)
|
rs1592563721
|
|