NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)
|
rs759557055
|
0.00001
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NM_000280.4:c.1267A>T
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|
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NM_000280.6(PAX6):c.143T>C (p.Val48Ala)
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rs2135101631
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NM_001368894.2(PAX6):c.-118_-117del
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rs1554986858
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NM_001368894.2(PAX6):c.-122dup
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rs2135311510
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NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter)
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rs786205467
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NM_001368894.2(PAX6):c.1074+3_1074+6del
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rs2134572801
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NM_001368894.2(PAX6):c.1074+6T>G
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rs1131692316
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NM_001368894.2(PAX6):c.1075-3C>G
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rs886044223
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NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu)
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rs1592563636
|
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NM_001368894.2(PAX6):c.107G>T (p.Gly36Val)
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rs1592563636
|
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NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
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|
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NM_001368894.2(PAX6):c.112C>G (p.Arg38Gly)
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rs397514640
|
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NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)
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rs1411880763
|
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NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
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|
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NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
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NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del)
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rs1592562717
|
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NM_001368894.2(PAX6):c.1166dup (p.His390fs)
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rs756801119
|
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NM_001368894.2(PAX6):c.1225+5G>T
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|
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NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser)
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rs1592562910
|
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NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)
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rs1592562836
|
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NM_001368894.2(PAX6):c.141+4A>G
|
rs1131692290
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
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rs2135147324
|
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NM_001368894.2(PAX6):c.142-3T>C
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|
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NM_001368894.2(PAX6):c.184-14C>G
|
rs1131692291
|
|
NM_001368894.2(PAX6):c.184-5T>G
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rs1131692292
|
|
NM_001368894.2(PAX6):c.184G>T (p.Val62Leu)
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|
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NM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr)
|
rs1554985430
|
|
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)
|
rs587778874
|
|
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
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|
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NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
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|
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NM_001368894.2(PAX6):c.19G>C (p.Gly7Arg)
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rs1131692285
|
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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.219G>T (p.Arg73Ser)
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|
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NM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn)
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|
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NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn)
|
rs864309686
|
|
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg)
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rs759557055
|
|
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)
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rs2135097306
|
|
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln)
|
rs2135096558
|
|
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu)
|
rs2135096558
|
|
NM_001368894.2(PAX6):c.297C>T (p.Ser99=)
|
rs1064793223
|
|
NM_001368894.2(PAX6):c.302T>G (p.Ile101Arg)
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|
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NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro)
|
rs769095184
|
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NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
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|
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NM_001368894.2(PAX6):c.375C>A (p.Val125=)
|
rs1592542705
|
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NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del)
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rs1592542273
|
|
NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
|
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NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg)
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rs121907928
|
|
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)
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rs1554985100
|
|
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)
|
rs121907919
|
|
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)
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|
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NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys)
|
rs1388158419
|
|
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)
|
rs1057520755
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
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NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
|
|
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NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala)
|
rs1592564366
|
|
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)
|
rs1592433640
|
|
NM_001368894.2(PAX6):c.683G>C (p.Arg228Thr)
|
rs2134657107
|
|
NM_001368894.2(PAX6):c.723A>G (p.Lys241=)
|
rs1592433022
|
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NM_001368894.2(PAX6):c.724+1G>A
|
|
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NM_001368894.2(PAX6):c.724G>A (p.Glu242Lys)
|
rs1592432969
|
|
NM_001368894.2(PAX6):c.725-5T>C
|
rs1592421981
|
|
NM_001368894.2(PAX6):c.725-9C>G
|
rs1592422097
|
|
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)
|
|
|
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.807G>A (p.Gln269=)
|
|
|
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln)
|
rs1950629763
|
|
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
|
|
|
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val)
|
rs1592563721
|
|
NM_001368894.2(PAX6):c.959-1G>A
|
rs1592412022
|
|
NM_001368894.2(PAX6):c.959-3C>G
|
rs1057523821
|
|
NM_001368894.2(PAX6):c.959-3_959-2del
|
|
|
NM_001368894.2(PAX6):c.959-9T>A
|
rs1057517784
|
|