NM_016180.5(SLC45A2):c.987A>G (p.Thr329=)
|
rs2287949
|
0.95123
|
NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe)
|
rs16891982
|
0.67617
|
NM_000275.3(OCA2):c.2328T>C (p.Ala776=)
|
rs1800419
|
0.47440
|
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)
|
rs885479
|
0.08396
|
NM_002386.4(MC1R):c.178G>T (p.Val60Leu)
|
rs1805005
|
0.08197
|
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp)
|
rs1800401
|
0.07659
|
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)
|
rs41302073
|
0.01144
|
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu)
|
rs3212366
|
0.00938
|
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp)
|
rs33929465
|
0.00876
|
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr)
|
rs1110400
|
0.00675
|
NM_001029896.2(WDR45):c.838G>A (p.Val280Met)
|
rs149509552
|
0.00644
|
NM_002386.4(MC1R):c.466G>C (p.Val156Leu)
|
rs3212365
|
0.00443
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
NM_000275.3(OCA2):c.*54A>G
|
rs192734230
|
0.00144
|
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_000275.3(OCA2):c.1103C>T (p.Ala368Val)
|
rs61745150
|
0.00086
|
NM_002386.4(MC1R):c.537dup (p.Ile180fs)
|
rs555179612
|
0.00067
|
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)
|
rs201326893
|
0.00056
|
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp)
|
rs143218168
|
0.00054
|
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)
|
rs138750983
|
0.00052
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_002386.4(MC1R):c.112G>A (p.Val38Met)
|
rs200050206
|
0.00040
|
NM_000372.5(TYR):c.1067A>T (p.Asp356Val)
|
rs180801021
|
0.00037
|
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp)
|
rs138272660
|
0.00036
|
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=)
|
rs150473213
|
0.00034
|
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
|
rs183487020
|
0.00031
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr)
|
rs61752864
|
0.00027
|
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)
|
rs142931246
|
0.00025
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln)
|
rs34090186
|
0.00024
|
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)
|
rs144812594
|
0.00023
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)
|
rs376823382
|
0.00022
|
NM_000275.3(OCA2):c.1663C>T (p.Arg555Cys)
|
rs141611162
|
0.00021
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00021
|
NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)
|
rs104894130
|
0.00021
|
NM_002386.4(MC1R):c.332C>T (p.Ala111Val)
|
rs201489928
|
0.00021
|
NM_016180.5(SLC45A2):c.365A>G (p.Asn122Ser)
|
rs145379710
|
0.00021
|
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)
|
rs150335311
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys)
|
rs138065338
|
0.00018
|
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_000275.3(OCA2):c.1239+5G>C
|
rs757119713
|
0.00016
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_002386.4(MC1R):c.577G>A (p.Val193Met)
|
rs527673999
|
0.00011
|
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly)
|
rs200764804
|
0.00010
|
NM_002386.4(MC1R):c.803C>G (p.Pro268Arg)
|
rs527697723
|
0.00010
|
NM_000372.5(TYR):c.325G>A (p.Gly109Arg)
|
rs61753253
|
0.00009
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser)
|
rs200215218
|
0.00008
|
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
|
rs142988897
|
0.00006
|
NM_000275.3(OCA2):c.41C>T (p.Ala14Val)
|
rs763734477
|
0.00006
|
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu)
|
rs190612616
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.48C>T (p.Ser16=)
|
rs148710429
|
0.00006
|
NM_000372.5(TYR):c.892C>T (p.Arg298Trp)
|
rs200854796
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter)
|
rs121912778
|
0.00006
|
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys)
|
rs201789348
|
0.00006
|
NM_000550.3(TYRP1):c.520G>T (p.Gly174Cys)
|
rs78071458
|
0.00006
|
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro)
|
rs121912619
|
0.00006
|
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)
|
rs372899234
|
0.00005
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu)
|
rs757286784
|
0.00004
|
NM_000275.3(OCA2):c.2338+1G>T
|
rs770635415
|
0.00004
|
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
NM_000275.3(OCA2):c.941T>G (p.Val314Gly)
|
rs762262964
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)
|
rs281865424
|
0.00004
|
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)
|
rs780433845
|
0.00004
|
NM_016180.5(SLC45A2):c.1256C>T (p.Pro419Leu)
|
rs530738094
|
0.00004
|
NM_016180.5(SLC45A2):c.1454T>C (p.Leu485Pro)
|
rs749544685
|
0.00004
|
NM_016180.5(SLC45A2):c.301C>T (p.Arg101Cys)
|
rs779436059
|
0.00004
|
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)
|
rs772019064
|
0.00003
|
NM_000275.3(OCA2):c.157del (p.Arg53fs)
|
rs758894409
|
0.00003
|
NM_000275.3(OCA2):c.2086_2095del (p.Ala696fs)
|
rs746307353
|
0.00003
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000372.5(TYR):c.875C>T (p.Thr292Met)
|
rs61754372
|
0.00003
|
NM_000550.3(TYRP1):c.-70C>T
|
rs766836831
|
0.00003
|
NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)
|
rs779504604
|
0.00003
|
NM_002386.4(MC1R):c.219G>A (p.Met73Ile)
|
rs755918287
|
0.00003
|
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)
|
rs372465070
|
0.00003
|
NM_016180.5(SLC45A2):c.1156+1G>C
|
rs752501574
|
0.00003
|
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu)
|
rs769448704
|
0.00003
|
NM_016180.5(SLC45A2):c.802dup (p.Tyr268fs)
|
rs753041550
|
0.00003
|
NM_016180.5(SLC45A2):c.957C>A (p.Tyr319Ter)
|
rs200122644
|
0.00003
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000372.5(TYR):c.1037-2A>G
|
rs748901196
|
0.00002
|
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
|
rs369291837
|
0.00002
|
NM_000372.5(TYR):c.1366+1G>T
|
rs369610829
|
0.00002
|
NM_000372.5(TYR):c.389A>T (p.Glu130Val)
|
rs966882228
|
0.00002
|
NM_001029896.2(WDR45):c.254C>T (p.Ala85Val)
|
rs41310595
|
0.00002
|
NM_002386.4(MC1R):c.217A>G (p.Met73Val)
|
rs371458749
|
0.00002
|
NM_002386.4(MC1R):c.583T>G (p.Phe195Val)
|
rs377580634
|
0.00002
|
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
|
rs373775562
|
0.00001
|
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val)
|
rs749661379
|
0.00001
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)
|
rs1384042381
|
0.00001
|
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)
|
rs768934658
|
0.00001
|
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)
|
rs776814755
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)
|
rs769408559
|
0.00001
|
NM_000275.3(OCA2):c.943C>T (p.Pro315Ser)
|
rs201481836
|
0.00001
|
NM_000372.5(TYR):c.1036+1G>A
|
rs763715899
|
0.00001
|
NM_000372.5(TYR):c.1099C>T (p.His367Tyr)
|
rs776054795
|
0.00001
|
NM_000372.5(TYR):c.1106A>G (p.Tyr369Cys)
|
rs149912348
|
0.00001
|
NM_000372.5(TYR):c.1110G>A (p.Met370Ile)
|
rs1207709557
|
0.00001
|
NM_000372.5(TYR):c.1111A>T (p.Asn371Tyr)
|
rs61754386
|
0.00001
|
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr)
|
rs61754387
|
0.00001
|
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser)
|
rs104894316
|
0.00001
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
NM_000372.5(TYR):c.1343A>G (p.Asp448Gly)
|
rs753195354
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)
|
rs61753187
|
0.00001
|
NM_000372.5(TYR):c.290G>T (p.Gly97Val)
|
rs1320376090
|
0.00001
|
NM_000372.5(TYR):c.606T>G (p.His202Gln)
|
rs754661359
|
0.00001
|
NM_000372.5(TYR):c.61C>T (p.Pro21Ser)
|
rs61753178
|
0.00001
|
NM_000372.5(TYR):c.626C>T (p.Pro209Leu)
|
rs746581409
|
0.00001
|
NM_000372.5(TYR):c.635G>A (p.Arg212Lys)
|
rs377209424
|
0.00001
|
NM_000372.5(TYR):c.649del (p.Arg217fs)
|
rs61754364
|
0.00001
|
NM_000372.5(TYR):c.71G>A (p.Cys24Tyr)
|
rs373333305
|
0.00001
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala)
|
rs372225049
|
0.00001
|
NM_002386.4(MC1R):c.313G>A (p.Ala105Thr)
|
rs1376244060
|
0.00001
|
NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His)
|
rs794727645
|
0.00001
|
NM_016180.5(SLC45A2):c.1567G>A (p.Ala523Thr)
|
rs371334000
|
0.00001
|
NM_016180.5(SLC45A2):c.1570C>T (p.Leu524Phe)
|
rs565278457
|
0.00001
|
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly)
|
rs755311638
|
0.00001
|
NM_016180.5(SLC45A2):c.53A>T (p.Asp18Val)
|
rs768464863
|
0.00001
|
NM_016180.5(SLC45A2):c.793A>T (p.Met265Leu)
|
rs754221547
|
0.00001
|
NM_000275.3(OCA2):c.1056_1062del (p.Thr353fs)
|
rs2041525028
|
|
NM_000275.3(OCA2):c.1086AGCACTGGC[1] (p.363ALA[1])
|
|
|
NM_000275.3(OCA2):c.1275_1277del (p.Met425del)
|
rs752510351
|
|
NM_000275.3(OCA2):c.131del (p.Gly44fs)
|
rs780625433
|
|
NM_000275.3(OCA2):c.1418T>A (p.Ile473Asn)
|
|
|
NM_000275.3(OCA2):c.1450_1451insCTGCCCTGACA (p.Ile484fs)
|
|
|
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg)
|
rs747214535
|
|
NM_000275.3(OCA2):c.1504-2A>G
|
rs752460023
|
|
NM_000275.3(OCA2):c.1560_1562del (p.Leu521del)
|
|
|
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)
|
rs779850564
|
|
NM_000275.3(OCA2):c.1653dup (p.His552fs)
|
|
|
NM_000275.3(OCA2):c.1675C>T (p.Gln559Ter)
|
|
|
NM_000275.3(OCA2):c.1714C>T (p.Arg572Cys)
|
|
|
NM_000275.3(OCA2):c.1808del (p.Asn603fs)
|
rs1476192724
|
|
NM_000275.3(OCA2):c.1841dup (p.His615fs)
|
|
|
NM_000275.3(OCA2):c.1842+2T>C
|
rs1226502822
|
|
NM_000275.3(OCA2):c.1842_1842+2delinsAGGA
|
|
|
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg)
|
rs886043514
|
|
NM_000275.3(OCA2):c.1A>G (p.Met1Val)
|
|
|
NM_000275.3(OCA2):c.1_7dup (p.Leu3fs)
|
|
|
NM_000275.3(OCA2):c.2051_2052delinsG (p.Phe684fs)
|
rs1595660890
|
|
NM_000275.3(OCA2):c.2158C>T (p.Arg720Cys)
|
|
|
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
|
|
|
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
|
|
|
NM_000275.3(OCA2):c.2217dup (p.Asp740Ter)
|
|
|
NM_000275.3(OCA2):c.2244+2T>G
|
|
|
NM_000275.3(OCA2):c.2245-3_2245-2del
|
|
|
NM_000275.3(OCA2):c.2245-6C>G
|
rs368772032
|
|
NM_000275.3(OCA2):c.224G>A (p.Gly75Glu)
|
rs2141895899
|
|
NM_000275.3(OCA2):c.2251G>A (p.Val751Met)
|
|
|
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)
|
rs987780496
|
|
NM_000275.3(OCA2):c.2432G>A (p.Arg811Lys)
|
|
|
NM_000275.3(OCA2):c.2479T>C (p.Tyr827His)
|
|
|
NM_000275.3(OCA2):c.2491G>C (p.Ala831Pro)
|
|
|
NM_000275.3(OCA2):c.316C>T (p.Gln106Ter)
|
|
|
NM_000275.3(OCA2):c.403G>T (p.Glu135Ter)
|
rs959570803
|
|
NM_000275.3(OCA2):c.406C>T (p.Arg136Ter)
|
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.631C>T (p.Pro211Ser)
|
|
|
NM_000275.3(OCA2):c.74_78del (p.Pro25fs)
|
rs747408689
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)
|
rs143320446
|
|
NM_000275.3(OCA2):c.949_950del (p.Leu317fs)
|
|
|
NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)
|
rs747395624
|
|
NM_000275.3(OCA2):c.988C>T (p.Gln330Ter)
|
|
|
NM_000372.5(TYR):c.1036+13T>A
|
rs1377064834
|
|
NM_000372.5(TYR):c.1037-3C>G
|
|
|
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys)
|
rs104894315
|
|
NM_000372.5(TYR):c.1164del (p.His389fs)
|
rs281865522
|
|
NM_000372.5(TYR):c.1177del (p.Val393fs)
|
|
|
NM_000372.5(TYR):c.1185-2A>G
|
rs1289685376
|
|
NM_000372.5(TYR):c.1200G>T (p.Trp400Cys)
|
|
|
NM_000372.5(TYR):c.1259A>G (p.His420Arg)
|
rs2135324283
|
|
NM_000372.5(TYR):c.1322C>A (p.Ser441Ter)
|
|
|
NM_000372.5(TYR):c.133C>A (p.Pro45Thr)
|
|
|
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn)
|
rs104894318
|
|
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)
|
rs1555100853
|
|
NM_000372.5(TYR):c.1405G>T (p.Glu469Ter)
|
|
|
NM_000372.5(TYR):c.1427_1430dup (p.Trp477fs)
|
|
|
NM_000372.5(TYR):c.1456del (p.Ala486fs)
|
rs1590909462
|
|
NM_000372.5(TYR):c.149C>G (p.Ser50Ter)
|
rs61753181
|
|
NM_000372.5(TYR):c.1501C>T (p.Arg501Cys)
|
|
|
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs)
|
rs765024056
|
|
NM_000372.5(TYR):c.16T>A (p.Leu6Met)
|
|
|
NM_000372.5(TYR):c.241C>T (p.Pro81Ser)
|
|
|
NM_000372.5(TYR):c.338_339del (p.Thr113fs)
|
rs61753254
|
|
NM_000372.5(TYR):c.347G>A (p.Arg116Gln)
|
|
|
NM_000372.5(TYR):c.353T>A (p.Leu118Ter)
|
|
|
NM_000372.5(TYR):c.391_393del (p.Lys131del)
|
rs1413017181
|
|
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)
|
rs797046082
|
|
NM_000372.5(TYR):c.485G>A (p.Gly162Glu)
|
|
|
NM_000372.5(TYR):c.49G>A (p.Ala17Thr)
|
|
|
NM_000372.5(TYR):c.547G>A (p.Val183Met)
|
rs141930049
|
|
NM_000372.5(TYR):c.549del (p.Ser184fs)
|
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
NM_000372.5(TYR):c.593T>C (p.Ile198Thr)
|
|
|
NM_000372.5(TYR):c.604C>T (p.His202Tyr)
|
rs749096874
|
|
NM_000372.5(TYR):c.650G>C (p.Arg217Pro)
|
|
|
NM_000372.5(TYR):c.696del (p.Ile233fs)
|
|
|
NM_000372.5(TYR):c.731G>A (p.Cys244Tyr)
|
|
|
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer)
|
rs61754368
|
|
NM_000372.5(TYR):c.755T>G (p.Met252Arg)
|
rs1943262190
|
|
NM_000372.5(TYR):c.773_774del (p.Thr258fs)
|
rs1374400414
|
|
NM_000372.5(TYR):c.820-2A>G
|
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
NM_000372.5(TYR):c.820-3del
|
rs763374476
|
|
NM_000372.5(TYR):c.838G>T (p.Glu280Ter)
|
|
|
NM_000372.5(TYR):c.862_863del (p.Leu288fs)
|
rs2135253151
|
|
NM_000372.5(TYR):c.867C>A (p.Cys289Ter)
|
|
|
NM_000372.5(TYR):c.895C>T (p.Arg299Cys)
|
rs61754374
|
|
NM_000372.5(TYR):c.902C>G (p.Pro301Arg)
|
|
|
NM_000372.5(TYR):c.902C>T (p.Pro301Leu)
|
rs796051880
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000372.5(TYR):c.938_939dup (p.Ser314fs)
|
rs867751958
|
|
NM_000372.5(TYR):c.994A>G (p.Met332Val)
|
|
|
NM_000550.3(TYRP1):c.1057_1060del (p.Asn353fs)
|
rs387906562
|
|
NM_000550.3(TYRP1):c.1082-1G>C
|
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
NM_000550.3(TYRP1):c.1167del (p.Gln390fs)
|
|
|
NM_000550.3(TYRP1):c.1372_1375dup (p.Asn459fs)
|
|
|
NM_000550.3(TYRP1):c.1377_1380dup (p.Gly461fs)
|
|
|
NM_000550.3(TYRP1):c.1415_1418dup (p.Phe473fs)
|
|
|
NM_000550.3(TYRP1):c.176C>G (p.Ser59Ter)
|
|
|
NM_000550.3(TYRP1):c.570G>A (p.Trp190Ter)
|
|
|
NM_000550.3(TYRP1):c.782_793del (p.Cys261_Asp264del)
|
|
|
NM_000550.3(TYRP1):c.88T>C (p.Cys30Arg)
|
|
|
NM_002386.4(MC1R):c.201del (p.Asn68fs)
|
|
|
NM_002386.4(MC1R):c.259G>C (p.Val87Leu)
|
|
|
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)
|
rs34540312
|
|
NM_002386.4(MC1R):c.377G>C (p.Ser126Thr)
|
|
|
NM_002386.4(MC1R):c.506G>A (p.Trp169Ter)
|
|
|
NM_002386.4(MC1R):c.795C>G (p.Val265=)
|
rs367998996
|
|
NM_016180.5(SLC45A2):c.1036G>T (p.Val346Leu)
|
|
|
NM_016180.5(SLC45A2):c.1072_1081del (p.Thr358fs)
|
|
|
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)
|
rs753485165
|
|
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)
|
rs896495198
|
|
NM_016180.5(SLC45A2):c.1194G>C (p.Lys398Asn)
|
|
|
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs)
|
rs759411189
|
|
NM_016180.5(SLC45A2):c.1316A>C (p.Tyr439Ser)
|
|
|
NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)
|
|
|
NM_016180.5(SLC45A2):c.1534_1539dup (p.Ser512_Ala513dup)
|
rs752069774
|
|
NM_016180.5(SLC45A2):c.2T>C (p.Met1Thr)
|
|
|
NM_016180.5(SLC45A2):c.339_340insAC (p.Leu114fs)
|
|
|
NM_016180.5(SLC45A2):c.529_531del (p.Glu177del)
|
rs779024478
|
|
NM_016180.5(SLC45A2):c.834C>G (p.Tyr278Ter)
|
rs116887602
|
|
NM_016180.5(SLC45A2):c.875del (p.Asn292fs)
|
|
|
NM_016180.5(SLC45A2):c.941C>T (p.Pro314Leu)
|
|
|