NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00022
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00021
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)
|
rs61753253
|
0.00009
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_022081.6(HPS4):c.384+1G>A
|
rs201334605
|
0.00006
|
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)
|
rs749979474
|
0.00004
|
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter)
|
rs119471023
|
0.00004
|
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu)
|
rs936878316
|
0.00003
|
NM_001922.5(DCT):c.118T>A (p.Cys40Ser)
|
rs370729240
|
0.00003
|
NM_000273.3(GPR143):c.360G>A (p.Ala120=)
|
rs281865178
|
0.00002
|
NM_000372.5(TYR):c.265T>C (p.Cys89Arg)
|
rs28940877
|
0.00002
|
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)
|
rs1384042381
|
0.00001
|
GRCh37/hg19 Xp22.2(chrX:9702717-9709328)x0
|
|
|
NC_000023.9:g.9688757-?_9693917+?del
|
|
|
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp)
|
rs62635018
|
|
NM_000273.3(GPR143):c.12_36del (p.Leu6fs)
|
rs1057518787
|
|
NM_000273.3(GPR143):c.216_232del (p.Ala73fs)
|
rs62645741
|
|
NM_000273.3(GPR143):c.223dup (p.Ala75fs)
|
rs672601353
|
|
NM_000273.3(GPR143):c.346T>G (p.Cys116Gly)
|
rs62635030
|
|
NM_000273.3(GPR143):c.360+2T>C
|
rs2146700764
|
|
NM_000273.3(GPR143):c.361-2A>C
|
rs2146699664
|
|
NM_000273.3(GPR143):c.36del (p.Thr13fs)
|
|
|
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg)
|
rs137852296
|
|
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg)
|
rs137852296
|
|
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn)
|
rs58933950
|
|
NM_000273.3(GPR143):c.456-5_463del
|
rs2146691632
|
|
NM_000273.3(GPR143):c.548+2T>A
|
rs2083438278
|
|
NM_000273.3(GPR143):c.548+2T>C
|
rs2083438278
|
|
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys)
|
rs137852297
|
|
NM_000273.3(GPR143):c.73C>T (p.Gln25Ter)
|
rs2146705998
|
|
NM_000273.3(GPR143):c.756_767+2del
|
rs281865183
|
|
NM_000273.3(GPR143):c.767+10C>G
|
rs3788938
|
|
NM_000273.3(GPR143):c.767+1G>A
|
rs2146687459
|
|
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)
|
rs62635042
|
|
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)
|
rs62635045
|
|
NM_000273.3(GPR143):c.885+1G>A
|
rs281865184
|
|
NM_000273.3(GPR143):c.933_934dup (p.Gly312fs)
|
|
|
NM_000275.3(OCA2):c.646+1825_807+679del
|
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)
|
rs1555339028
|
|
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer)
|
rs1882493359
|
|
NM_001922.5(DCT):c.183C>G (p.Cys61Trp)
|
rs1885297366
|
|