NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)
|
rs2278008
|
0.75062
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_014324.6(AMACR):c.*663G>A
|
rs15612
|
0.21767
|
NM_014324.6(AMACR):c.*227T>G
|
rs6863560
|
0.08265
|
NM_014324.6(AMACR):c.*963C>T
|
rs6898962
|
0.04660
|
NM_014324.6(AMACR):c.*617G>T
|
rs12659370
|
0.04114
|
NM_014324.6(AMACR):c.*1070C>T
|
rs16892064
|
0.03353
|
NM_014324.6(AMACR):c.*1961G>A
|
rs113746028
|
0.02910
|
NM_014324.6(AMACR):c.*1144A>G
|
rs840380
|
0.02385
|
NM_000372.5(TYR):c.114G>A (p.Pro38=)
|
rs1939261
|
0.01561
|
NM_000372.5(TYR):c.178C>T (p.Leu60=)
|
rs1939260
|
0.01556
|
NM_014324.6(AMACR):c.*982C>T
|
rs16892066
|
0.01163
|
NM_000372.5(TYR):c.835T>C (p.Leu279=)
|
rs4987234
|
0.00733
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
NM_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
NM_000372.5(TYR):c.665T>C (p.Ile222Thr)
|
rs34878847
|
0.00096
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000372.5(TYR):c.504C>T (p.Asn168=)
|
rs148813091
|
0.00051
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_000372.5(TYR):c.*230G>A
|
rs532489606
|
0.00034
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)
|
rs145513733
|
0.00024
|
NM_000372.5(TYR):c.1446G>C (p.Ala482=)
|
rs3913543
|
0.00022
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000372.5(TYR):c.1065G>A (p.Ala355=)
|
rs1800421
|
0.00021
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
NM_000372.5(TYR):c.573A>G (p.Gly191=)
|
rs372123800
|
0.00016
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_000372.5(TYR):c.1214G>A (p.Arg405His)
|
rs772173320
|
0.00008
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000372.5(TYR):c.-37G>A
|
rs755069000
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000372.5(TYR):c.833G>A (p.Arg278Gln)
|
rs753384336
|
0.00004
|
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys)
|
rs1031268531
|
0.00004
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)
|
rs199717334
|
0.00003
|
NM_000275.3(OCA2):c.565_566del (p.Leu189fs)
|
rs1312967591
|
0.00002
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
NM_000372.5(TYR):c.1044T>C (p.Ala348=)
|
rs771720319
|
0.00001
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)
|
rs777090253
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.194T>C (p.Leu65Pro)
|
rs886048745
|
0.00001
|
NM_000372.5(TYR):c.67G>A (p.Ala23Thr)
|
rs1373014646
|
0.00001
|
NM_205850.3(SLC24A5):c.1078+1G>A
|
rs1450652793
|
0.00001
|
NM_000275.3(OCA2):c.1504-12_1504-9del
|
rs886051022
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
NM_000275.3(OCA2):c.2055del (p.Phe685fs)
|
rs772595552
|
|
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
|
|
|
NM_000275.3(OCA2):c.2432+1G>A
|
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
|
|
NM_000372.5(TYR):c.-41A>G
|
rs886048744
|
|
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu)
|
rs773970123
|
|
NM_000372.5(TYR):c.1168C>G (p.His390Asp)
|
rs62645914
|
|
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr)
|
rs748618759
|
|
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)
|
rs1944893007
|
|
NM_000372.5(TYR):c.191C>T (p.Pro64Leu)
|
rs370798325
|
|
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)
|
rs1482829698
|
|
NM_000372.5(TYR):c.464C>T (p.Thr155Ile)
|
rs920624553
|
|
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter)
|
rs138817690
|
|
NM_000372.5(TYR):c.826T>C (p.Cys276Arg)
|
|
|
NM_000372.5(TYR):c.978A>G (p.Gln326=)
|
rs1311286117
|
|
NM_000550.3(TYRP1):c.*294AAGT[1]
|
rs71329877
|
|
NM_000550.3(TYRP1):c.*319_*320dup
|
rs886063414
|
|
NM_000550.3(TYRP1):c.*468ATTA[1]
|
rs71329878
|
|
NM_000550.3(TYRP1):c.*955dup
|
rs763340664
|
|
NM_016180.4(SLC45A2):c.*29C>G
|
rs886060518
|
|
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)
|
rs753485165
|
|