ClinVar Miner

List of variants studied for albinism by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1330
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.78294705G>C
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1533G>A
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*246C>T
NM_000081.4(LYST):c.*275A>T
NM_000081.4(LYST):c.*319C>G
NM_000081.4(LYST):c.*712T>C
NM_000081.4(LYST):c.*809A>G
NM_000081.4(LYST):c.*921C>T
NM_000081.4(LYST):c.*962G>A
NM_000081.4(LYST):c.-136G>A
NM_000081.4(LYST):c.-97-13dup
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
NM_000081.4(LYST):c.10940+11A>T
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.11268-17dup
NM_000081.4(LYST):c.11268-6_11268-5del
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
NM_000081.4(LYST):c.193-3T>C
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4006+8G>A
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
NM_000081.4(LYST):c.600C>T (p.His200=)
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile)
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267
NM_000096.4(CP):c.*1007T>A
NM_000096.4(CP):c.*1081T>A rs188137938
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*259C>T
NM_000096.4(CP):c.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*373C>T
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*536G>C
NM_000096.4(CP):c.*572A>G rs561191589
NM_000096.4(CP):c.*583T>C rs886058084
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.*912C>G rs149920453
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000195.5(HPS1):c.*1001G>T
NM_000195.5(HPS1):c.*1005A>G rs186229582
NM_000195.5(HPS1):c.*1043C>T
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1167G>A rs1061437
NM_000195.5(HPS1):c.*1212T>A
NM_000195.5(HPS1):c.*1215C>T rs3830024
NM_000195.5(HPS1):c.*1215_*1217delinsTCC rs386746903
NM_000195.5(HPS1):c.*1217T>C rs3830025
NM_000195.5(HPS1):c.*1235G>A rs886046584
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.*1326C>A rs146022441
NM_000195.5(HPS1):c.*252C>T
NM_000195.5(HPS1):c.*272C>T rs1061115
NM_000195.5(HPS1):c.*324T>C rs1061123
NM_000195.5(HPS1):c.*327G>A rs886046590
NM_000195.5(HPS1):c.*403G>A rs886046589
NM_000195.5(HPS1):c.*451C>G
NM_000195.5(HPS1):c.*452G>A rs701801
NM_000195.5(HPS1):c.*460C>T rs114794063
NM_000195.5(HPS1):c.*473G>A rs3830019
NM_000195.5(HPS1):c.*577C>T
NM_000195.5(HPS1):c.*589G>A rs540367850
NM_000195.5(HPS1):c.*626C>T rs776700327
NM_000195.5(HPS1):c.*635T>C rs886046588
NM_000195.5(HPS1):c.*639G>T
NM_000195.5(HPS1):c.*691G>A
NM_000195.5(HPS1):c.*694C>T rs7075480
NM_000195.5(HPS1):c.*706C>G rs3830020
NM_000195.5(HPS1):c.*719T>C
NM_000195.5(HPS1):c.*736C>T rs149708847
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*916G>A rs114082441
NM_000195.5(HPS1):c.*943C>T rs558066370
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.*955A>G rs1737
NM_000195.5(HPS1):c.*968G>A
NM_000195.5(HPS1):c.*982T>C rs1739
NM_000195.5(HPS1):c.-105-9C>T rs2296429
NM_000195.5(HPS1):c.-153del rs886046593
NM_000195.5(HPS1):c.-219C>G
NM_000195.5(HPS1):c.-28G>A rs186783129
NM_000195.5(HPS1):c.-51C>A rs1804689
NM_000195.5(HPS1):c.-91T>A rs542654066
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087
NM_000195.5(HPS1):c.1397+7G>C rs2296432
NM_000195.5(HPS1):c.1397+8G>T rs2296433
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp)
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1599-15A>G rs2296435
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=)
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys)
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.5(HPS1):c.1896C>T (p.Ser632=)
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys)
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys)
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.2037G>A (p.Leu679=)
NM_000195.5(HPS1):c.204C>T (p.Thr68=)
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) rs780183454
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln)
NM_000195.5(HPS1):c.255+9A>G rs78927693
NM_000195.5(HPS1):c.256-4G>A rs372404024
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809
NM_000195.5(HPS1):c.468C>T (p.Tyr156=)
NM_000195.5(HPS1):c.473G>A (p.Arg158His)
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758
NM_000195.5(HPS1):c.507+13C>T rs371779884
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys)
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp)
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.90C>T (p.Phe30=)
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.5(HPS1):c.987+13T>C rs12571249
NM_000275.3(OCA2):c.*166C>T rs182290687
NM_000275.3(OCA2):c.*1T>C rs138228425
NM_000275.3(OCA2):c.*21G>A rs369189827
NM_000275.3(OCA2):c.*271G>A
NM_000275.3(OCA2):c.*300T>C rs776180839
NM_000275.3(OCA2):c.*367C>G
NM_000275.3(OCA2):c.*371G>C
NM_000275.3(OCA2):c.*410C>A
NM_000275.3(OCA2):c.*50A>G rs7175266
NM_000275.3(OCA2):c.*54A>G
NM_000275.3(OCA2):c.-109T>C rs886051027
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403
NM_000275.3(OCA2):c.1027G>A (p.Ala343Thr)
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404
NM_000275.3(OCA2):c.106C>T (p.Arg36Cys)
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met)
NM_000275.3(OCA2):c.1183-4A>G rs10852218
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1222G>A (p.Asp408Asn)
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.1261C>T (p.Arg421Trp)
NM_000275.3(OCA2):c.126C>T (p.Ala42=)
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.3(OCA2):c.1326C>T (p.Asn442=) rs886051025
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1336A>G (p.Met446Val)
NM_000275.3(OCA2):c.1337T>C (p.Met446Thr)
NM_000275.3(OCA2):c.1352C>A (p.Pro451His) rs886051024
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804
NM_000275.3(OCA2):c.1364+4C>T rs1800409
NM_000275.3(OCA2):c.1365-15C>T rs12910433
NM_000275.3(OCA2):c.1370G>T (p.Cys457Phe) rs886051023
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.144G>A (p.Ser48=) rs374819923
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000275.3(OCA2):c.1479T>G (p.Val493=)
NM_000275.3(OCA2):c.1503+7A>T
NM_000275.3(OCA2):c.1504-12_1504-9del rs886051022
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411
NM_000275.3(OCA2):c.1553T>A (p.Leu518His) rs886051021
NM_000275.3(OCA2):c.1560C>A (p.Leu520=)
NM_000275.3(OCA2):c.162G>A (p.Gly54=)
NM_000275.3(OCA2):c.1631T>C (p.Ile544Thr)
NM_000275.3(OCA2):c.1656C>T (p.His552=)
NM_000275.3(OCA2):c.1679G>A (p.Arg560His) rs35110389
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.1744C>T (p.Leu582=)
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp)
NM_000275.3(OCA2):c.1784+6G>A
NM_000275.3(OCA2):c.1785-7C>G rs375281082
NM_000275.3(OCA2):c.1842+6C>T
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414
NM_000275.3(OCA2):c.1849A>T (p.Ile617Leu)
NM_000275.3(OCA2):c.1857C>T (p.Asp619=)
NM_000275.3(OCA2):c.1864C>T (p.Leu622=)
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415
NM_000275.3(OCA2):c.2043C>G (p.Thr681=)
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719
NM_000275.3(OCA2):c.2145C>G (p.Val715=) rs779836224
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) rs1800417
NM_000275.3(OCA2):c.2169C>T (p.Ala723=)
NM_000275.3(OCA2):c.216C>G (p.Leu72=) rs766072141
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.2229G>A (p.Pro743=)
NM_000275.3(OCA2):c.2245-6C>A
NM_000275.3(OCA2):c.2287C>A (p.Leu763Met)
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118
NM_000275.3(OCA2):c.2296C>A (p.Pro766Thr)
NM_000275.3(OCA2):c.2322C>T (p.Phe774=) rs762388937
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419
NM_000275.3(OCA2):c.2361G>A (p.Ala787=)
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307
NM_000275.3(OCA2):c.2412C>G (p.Phe804Leu)
NM_000275.3(OCA2):c.2432+11A>G rs145577954
NM_000275.3(OCA2):c.2438G>A (p.Gly813Asp)
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026
NM_000275.3(OCA2):c.654C>A (p.Asn218Lys)
NM_000275.3(OCA2):c.666C>T (p.His222=) rs751309779
NM_000275.3(OCA2):c.681del (p.Leu228fs) rs1566803740
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338
NM_000275.3(OCA2):c.751G>A (p.Val251Met)
NM_000275.3(OCA2):c.796C>T (p.Arg266Trp) rs33929465
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231
NM_000275.3(OCA2):c.885G>A (p.Leu295=)
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000275.3(OCA2):c.972C>T (p.Arg324=)
NM_000372.5(TYR):c.*230G>A rs532489606
NM_000372.5(TYR):c.-37G>A rs755069000
NM_000372.5(TYR):c.-41A>G rs886048744
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1044T>C (p.Ala348=)
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1065G>A (p.Ala355=)
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1214G>A (p.Arg405His)
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.1307G>C (p.Gly436Ala)
NM_000372.5(TYR):c.1366+4A>G rs61754398
NM_000372.5(TYR):c.1396T>G (p.Ser466Ala)
NM_000372.5(TYR):c.1446G>C (p.Ala482=) rs3913543
NM_000372.5(TYR):c.1525G>A (p.Glu509Lys)
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260
NM_000372.5(TYR):c.191C>T (p.Pro64Leu) rs370798325
NM_000372.5(TYR):c.194T>C (p.Leu65Pro) rs886048745
NM_000372.5(TYR):c.454C>T (p.Pro152Ser)
NM_000372.5(TYR):c.464C>T (p.Thr155Ile)
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091
NM_000372.5(TYR):c.573A>G (p.Gly191=)
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.665T>C (p.Ile222Thr) rs34878847
NM_000372.5(TYR):c.67G>A (p.Ala23Thr)
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter) rs138817690
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.5(TYR):c.833G>A (p.Arg278Gln)
NM_000372.5(TYR):c.835T>C (p.Leu279=) rs4987234
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000372.5(TYR):c.978A>G (p.Gln326=)
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531
NM_000550.3(TYRP1):c.*123C>A rs683
NM_000550.3(TYRP1):c.*195C>T
NM_000550.3(TYRP1):c.*229C>G
NM_000550.3(TYRP1):c.*259T>C rs76349729
NM_000550.3(TYRP1):c.*294_*297AAGT[1] rs71329877
NM_000550.3(TYRP1):c.*319_*320dup rs886063414
NM_000550.3(TYRP1):c.*404A>T rs2762464
NM_000550.3(TYRP1):c.*458A>G rs549032453
NM_000550.3(TYRP1):c.*468_*471ATTA[1] rs71329878
NM_000550.3(TYRP1):c.*509C>A rs74941076
NM_000550.3(TYRP1):c.*518A>G
NM_000550.3(TYRP1):c.*568T>C rs142323339
NM_000550.3(TYRP1):c.*573T>G rs886063415
NM_000550.3(TYRP1):c.*591G>T rs886063416
NM_000550.3(TYRP1):c.*59A>C rs140364108
NM_000550.3(TYRP1):c.*65T>A
NM_000550.3(TYRP1):c.*727C>A
NM_000550.3(TYRP1):c.*775G>A
NM_000550.3(TYRP1):c.*853A>C rs910
NM_000550.3(TYRP1):c.*908T>C rs1063380
NM_000550.3(TYRP1):c.*934T>G
NM_000550.3(TYRP1):c.*944A>C
NM_000550.3(TYRP1):c.*955dup rs763340664
NM_000550.3(TYRP1):c.*98T>A
NM_000550.3(TYRP1):c.-111T>C
NM_000550.3(TYRP1):c.-119G>T rs147861369
NM_000550.3(TYRP1):c.-15C>G rs200678533
NM_000550.3(TYRP1):c.-161G>T rs7867043
NM_000550.3(TYRP1):c.-167G>A rs181711630
NM_000550.3(TYRP1):c.-69G>A
NM_000550.3(TYRP1):c.-69G>T rs181350173
NM_000550.3(TYRP1):c.-6A>G rs200838609
NM_000550.3(TYRP1):c.-70C>T rs766836831
NM_000550.3(TYRP1):c.1029C>T (p.Asp343=) rs145061390
NM_000550.3(TYRP1):c.1082-5T>A
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.1097C>T (p.Thr366Met)
NM_000550.3(TYRP1):c.114T>A (p.Ser38Arg)
NM_000550.3(TYRP1):c.1172C>T (p.Thr391Ile)
NM_000550.3(TYRP1):c.1263T>C (p.Asp421=) rs150370598
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.1354A>G (p.Met452Val) rs761776915
NM_000550.3(TYRP1):c.138C>T (p.Ser46=)
NM_000550.3(TYRP1):c.1409G>A (p.Ser470Asn)
NM_000550.3(TYRP1):c.1411C>T (p.Arg471Trp) rs138272660
NM_000550.3(TYRP1):c.1421G>A (p.Ser474Asn)
NM_000550.3(TYRP1):c.148G>A (p.Gly50Arg)
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000550.3(TYRP1):c.1505G>A (p.Arg502His)
NM_000550.3(TYRP1):c.1510A>G (p.Arg504Gly)
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073
NM_000550.3(TYRP1):c.1560A>G (p.Gln520=) rs773136421
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359
NM_000550.3(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.3(TYRP1):c.308G>A (p.Gly103Asp) rs761214982
NM_000550.3(TYRP1):c.385G>C (p.Val129Leu)
NM_000550.3(TYRP1):c.426C>A (p.Asn142Lys)
NM_000550.3(TYRP1):c.436C>T (p.Arg146Trp)
NM_000550.3(TYRP1):c.457C>T (p.Arg153Cys)
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413
NM_000550.3(TYRP1):c.640T>C (p.Ser214Pro)
NM_000550.3(TYRP1):c.67C>T (p.Arg23Trp)
NM_000550.3(TYRP1):c.689G>A (p.Arg230His)
NM_000550.3(TYRP1):c.70G>A (p.Ala24Thr) rs61758405
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939
NM_000550.3(TYRP1):c.786G>A (p.Thr262=) rs200160846
NM_000550.3(TYRP1):c.904C>G (p.Leu302Val)
NM_000550.3(TYRP1):c.913+9C>T rs147268542
NM_000550.3(TYRP1):c.914-4G>T
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) rs773285733
NM_000550.3(TYRP1):c.926G>A (p.Gly309Glu)
NM_000550.3(TYRP1):c.933T>C (p.Ile311=)
NM_000550.3(TYRP1):c.977G>A (p.Arg326His) rs16929374
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala)
NM_001271667.1(DTNBP1):c.772_773AG[2] (p.Glu259fs) rs752074481
NM_001271769.2(AP3B1):c.*552_*555TAAA[1] rs886060767
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_001301365.1(LYST):c.*1211G>A
NM_001301365.1(LYST):c.*1275T>C
NM_001301365.1(LYST):c.*1295T>C
NM_001301365.1(LYST):c.*1356G>T
NM_001301365.1(LYST):c.*1379G>C
NM_001301365.1(LYST):c.*1428T>G
NM_001301365.1(LYST):c.*1438C>T
NM_001301365.1(LYST):c.*1792A>G
NM_001301365.1(LYST):c.*1831A>C
NM_001301365.1(LYST):c.*1861C>A
NM_001301365.1(LYST):c.*191T>C
NM_001301365.1(LYST):c.*247G>T
NM_001301365.1(LYST):c.*329A>G
NM_001301365.1(LYST):c.*446T>C
NM_001301365.1(LYST):c.*519C>T
NM_001301365.1(LYST):c.*5G>A
NM_001301365.1(LYST):c.*685G>T
NM_001301365.1(LYST):c.*694T>C
NM_001301365.1(LYST):c.*725G>A
NM_001301365.1(LYST):c.*824A>G
NM_001301365.1(LYST):c.*831A>G
NM_001301365.1(LYST):c.*873G>C
NM_001301365.1(LYST):c.*891G>C
NM_001301365.1(LYST):c.*907G>A
NM_001301365.1(LYST):c.*94A>G
NM_001301365.1(LYST):c.-5C>T rs141317482
NM_001301365.1(LYST):c.-7-14T>C
NM_001301365.1(LYST):c.-97-9T>G
NM_001301365.1(LYST):c.-98+16250G>C
NM_001301365.1(LYST):c.-98+16300C>T
NM_001301365.1(LYST):c.-98+16302G>C
NM_001301365.1(LYST):c.-98+16303G>A
NM_001301365.1(LYST):c.-98+16308G>A
NM_001301365.1(LYST):c.-98+16308G>C
NM_001301365.1(LYST):c.-98+16311G>C
NM_001301365.1(LYST):c.10091A>G (p.Tyr3364Cys)
NM_001301365.1(LYST):c.10221C>T (p.Tyr3407=)
NM_001301365.1(LYST):c.10235G>A (p.Arg3412His) rs148409403
NM_001301365.1(LYST):c.10341G>A (p.Glu3447=)
NM_001301365.1(LYST):c.10414T>C (p.Tyr3472His)
NM_001301365.1(LYST):c.10477T>C (p.Phe3493Leu)
NM_001301365.1(LYST):c.10526G>A (p.Arg3509Gln)
NM_001301365.1(LYST):c.10657A>G (p.Ser3553Gly)
NM_001301365.1(LYST):c.10707T>C (p.Thr3569=)
NM_001301365.1(LYST):c.10733G>T (p.Cys3578Phe)
NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10838A>G (p.Tyr3613Cys)
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11076C>T (p.Asn3692=)
NM_001301365.1(LYST):c.110C>T (p.Thr37Met)
NM_001301365.1(LYST):c.11122G>A (p.Val3708Met)
NM_001301365.1(LYST):c.11167G>A (p.Ala3723Thr)
NM_001301365.1(LYST):c.11196-15T>G
NM_001301365.1(LYST):c.11354G>A (p.Arg3785His) rs370173269
NM_001301365.1(LYST):c.1275C>G (p.Tyr425Ter)
NM_001301365.1(LYST):c.1384C>T (p.Pro462Ser)
NM_001301365.1(LYST):c.1478A>G (p.His493Arg)
NM_001301365.1(LYST):c.1494A>G (p.Arg498=)
NM_001301365.1(LYST):c.153A>C (p.Gly51=) rs11464
NM_001301365.1(LYST):c.1565C>T (p.Ser522Leu)
NM_001301365.1(LYST):c.1655T>C (p.Val552Ala)
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1686G>C (p.Gln562His) rs77091385
NM_001301365.1(LYST):c.1722A>G (p.Leu574=)
NM_001301365.1(LYST):c.1725G>A (p.Ser575=)
NM_001301365.1(LYST):c.1940T>G (p.Leu647Arg)
NM_001301365.1(LYST):c.196T>C (p.Leu66=)
NM_001301365.1(LYST):c.1996A>G (p.Ser666Gly)
NM_001301365.1(LYST):c.2009_2011CTT[1] (p.Ser671del)
NM_001301365.1(LYST):c.2258G>A (p.Ser753Asn)
NM_001301365.1(LYST):c.2313G>A (p.Gln771=)
NM_001301365.1(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_001301365.1(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.2442T>A (p.Ser814Arg)
NM_001301365.1(LYST):c.244C>T (p.Leu82=)
NM_001301365.1(LYST):c.2517T>C (p.Ile839=)
NM_001301365.1(LYST):c.2630G>C (p.Gly877Ala)
NM_001301365.1(LYST):c.2687A>G (p.Asn896Ser)
NM_001301365.1(LYST):c.2700A>G (p.Leu900=)
NM_001301365.1(LYST):c.2724C>T (p.Cys908=)
NM_001301365.1(LYST):c.2725G>A (p.Val909Ile)
NM_001301365.1(LYST):c.2754G>A (p.Glu918=)
NM_001301365.1(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_001301365.1(LYST):c.2806C>A (p.Pro936Thr)
NM_001301365.1(LYST):c.280A>G (p.Thr94Ala)
NM_001301365.1(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_001301365.1(LYST):c.2870T>C (p.Met957Thr)
NM_001301365.1(LYST):c.2908A>C (p.Ile970Leu)
NM_001301365.1(LYST):c.2945A>G (p.Tyr982Cys)
NM_001301365.1(LYST):c.2946T>C (p.Tyr982=)
NM_001301365.1(LYST):c.2963G>A (p.Arg988Gln)
NM_001301365.1(LYST):c.3030A>G (p.Gly1010=)
NM_001301365.1(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_001301365.1(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_001301365.1(LYST):c.3160A>G (p.Ser1054Gly)
NM_001301365.1(LYST):c.3167A>C (p.Lys1056Thr)
NM_001301365.1(LYST):c.3278G>A (p.Ser1093Asn)
NM_001301365.1(LYST):c.3310C>T (p.Arg1104Ter) rs80338652
NM_001301365.1(LYST):c.3311G>A (p.Arg1104Gln) rs148299757
NM_001301365.1(LYST):c.3394-14T>C rs372892911
NM_001301365.1(LYST):c.3616G>C (p.Asp1206His)
NM_001301365.1(LYST):c.368A>G (p.His123Arg) rs3768067
NM_001301365.1(LYST):c.3697G>A (p.Glu1233Lys)
NM_001301365.1(LYST):c.3712+12T>C
NM_001301365.1(LYST):c.3757A>C (p.Ser1253Arg)
NM_001301365.1(LYST):c.3834G>A (p.Leu1278=)
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.3931A>G (p.Met1311Val)
NM_001301365.1(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.4566A>C (p.Ala1522=)
NM_001301365.1(LYST):c.4705A>C (p.Asn1569His)
NM_001301365.1(LYST):c.5071C>T (p.Pro1691Ser)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.5634+11A>G
NM_001301365.1(LYST):c.5635-4A>G
NM_001301365.1(LYST):c.5676G>A (p.Met1892Ile)
NM_001301365.1(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_001301365.1(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_001301365.1(LYST):c.6079G>C (p.Val2027Leu)
NM_001301365.1(LYST):c.6188G>A (p.Arg2063Lys)
NM_001301365.1(LYST):c.6266C>G (p.Ser2089Cys)
NM_001301365.1(LYST):c.6291C>T (p.Ala2097=)
NM_001301365.1(LYST):c.6292G>A (p.Ala2098Thr)
NM_001301365.1(LYST):c.643C>T (p.Pro215Ser)
NM_001301365.1(LYST):c.6454A>C (p.Ser2152Arg)
NM_001301365.1(LYST):c.6460G>A (p.Asp2154Asn)
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_001301365.1(LYST):c.6673C>T (p.Arg2225Cys)
NM_001301365.1(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_001301365.1(LYST):c.6744A>G (p.Leu2248=)
NM_001301365.1(LYST):c.6772G>C (p.Ala2258Pro)
NM_001301365.1(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_001301365.1(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_001301365.1(LYST):c.7059+7G>A rs111764031
NM_001301365.1(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_001301365.1(LYST):c.7385C>A (p.Ala2462Glu)
NM_001301365.1(LYST):c.7430C>T (p.Thr2477Ile)
NM_001301365.1(LYST):c.7506A>C (p.Gln2502His)
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_001301365.1(LYST):c.7806A>G (p.Gln2602=)
NM_001301365.1(LYST):c.7836A>G (p.Ser2612=)
NM_001301365.1(LYST):c.7857T>C (p.His2619=) rs34160788
NM_001301365.1(LYST):c.7862T>C (p.Met2621Thr) rs368500877
NM_001301365.1(LYST):c.8027G>T (p.Ser2676Ile) rs113209379
NM_001301365.1(LYST):c.8214G>C (p.Glu2738Asp)
NM_001301365.1(LYST):c.8222G>A (p.Arg2741Gln)
NM_001301365.1(LYST):c.8258C>T (p.Ser2753Leu)
NM_001301365.1(LYST):c.8368A>C (p.Lys2790Gln)
NM_001301365.1(LYST):c.8395A>G (p.Ile2799Val)
NM_001301365.1(LYST):c.8411G>A (p.Gly2804Asp) rs35333195
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=)
NM_001301365.1(LYST):c.8497G>A (p.Ala2833Thr)
NM_001301365.1(LYST):c.8535+7C>T
NM_001301365.1(LYST):c.8537A>C (p.Glu2846Ala)
NM_001301365.1(LYST):c.8560G>A (p.Glu2854Lys)
NM_001301365.1(LYST):c.8742A>G (p.Lys2914=)
NM_001301365.1(LYST):c.8801+15G>C
NM_001301365.1(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_001301365.1(LYST):c.8818C>A (p.Pro2940Thr)
NM_001301365.1(LYST):c.8898T>C (p.Tyr2966=)
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)
NM_001301365.1(LYST):c.8960C>G (p.Pro2987Arg)
NM_001301365.1(LYST):c.9045-13T>C
NM_001301365.1(LYST):c.9162+11G>A
NM_001301365.1(LYST):c.916T>G (p.Leu306Val)
NM_001301365.1(LYST):c.9332A>G (p.Tyr3111Cys)
NM_001301365.1(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_001301365.1(LYST):c.9542A>G (p.Asn3181Ser)
NM_001301365.1(LYST):c.9742G>A (p.Val3248Ile)
NM_001301365.1(LYST):c.9969C>T (p.His3323=)
NM_001349896.1(HPS4):c.-116C>T rs886057321
NM_001349896.1(HPS4):c.-185A>G rs188205202
NM_001349896.1(HPS4):c.-18A>G
NM_001349896.1(HPS4):c.-253C>T rs3747134
NM_001349896.1(HPS4):c.-281A>G
NM_001349896.1(HPS4):c.-296T>C rs5761557
NM_001349896.1(HPS4):c.-312C>T
NM_001349896.1(HPS4):c.-317G>A
NM_001349896.1(HPS4):c.-395A>C rs147631281
NM_001349896.1(HPS4):c.-42A>G rs369803062
NM_001349896.1(HPS4):c.-479+16C>T rs115916720
NM_001349896.1(HPS4):c.-479+2T>A
NM_001349896.1(HPS4):c.-479+40A>G rs3747137
NM_001349896.1(HPS4):c.-479+47G>T rs886057323
NM_001349896.1(HPS4):c.-494T>G rs187762406
NM_001349896.1(HPS4):c.-531G>C rs886057324
NM_001349896.1(HPS4):c.-537C>G
NM_001349896.1(HPS4):c.-543C>T rs886057325
NM_001349896.1(HPS4):c.-569C>T rs34019374
NM_001349896.1(HPS4):c.-570G>T rs753668169
NM_001349896.1(HPS4):c.-571G>T rs968425
NM_001349896.1(HPS4):c.38C>T (p.Ser13Leu)
NM_003664.4(AP3B1):c.*101T>C rs766029582
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.*141T>C rs753283084
NM_003664.4(AP3B1):c.*379A>G rs115124715
NM_003664.4(AP3B1):c.*447C>T rs886060768
NM_003664.4(AP3B1):c.*507G>A rs865863660
NM_003664.4(AP3B1):c.*69dup rs886060769
NM_003664.4(AP3B1):c.-115G>A rs886060776
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1168-9C>T rs367648410
NM_003664.4(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589
NM_003664.4(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996
NM_003664.4(AP3B1):c.1364-11A>G rs759174401
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1392T>G (p.Val464=) rs886060774
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val)
NM_003664.4(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.196A>G (p.Ile66Val) rs779404585
NM_003664.4(AP3B1):c.1984C>G (p.Pro662Ala) rs749489841
NM_003664.4(AP3B1):c.2012C>T (p.Ser671Phe) rs886060773
NM_003664.4(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033
NM_003664.4(AP3B1):c.2093G>A (p.Ser698Asn) rs886060772
NM_003664.4(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037
NM_003664.4(AP3B1):c.2405A>G (p.Glu802Gly) rs886060771
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866
NM_003664.4(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.2812T>C (p.Ser938Pro) rs1002296977
NM_003664.4(AP3B1):c.2906A>G (p.Asp969Gly) rs886060770
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.303C>T (p.Tyr101=) rs115747826
NM_003664.4(AP3B1):c.3131+5G>T rs191616060
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.388C>T (p.Leu130=) rs138774723
NM_003664.4(AP3B1):c.519A>G (p.Ala173=) rs747459337
NM_003664.4(AP3B1):c.537-9A>G rs372285421
NM_003664.4(AP3B1):c.557A>C (p.Glu186Ala) rs778281326
NM_003664.4(AP3B1):c.720G>A (p.Gly240=) rs886060775
NM_003664.4(AP3B1):c.822C>T (p.Tyr274=) rs112652327
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_003664.4(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003664.5(AP3B1):c.*191C>G
NM_003664.5(AP3B1):c.*380G>A
NM_003664.5(AP3B1):c.*380G>C
NM_003664.5(AP3B1):c.*44G>A
NM_003664.5(AP3B1):c.*482C>T
NM_003664.5(AP3B1):c.-83G>C
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val)
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
NM_003664.5(AP3B1):c.1969-10G>A rs77009095
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn)
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg)
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.5(AP3B1):c.537-7T>A
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_003664.5(AP3B1):c.786+6T>A
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
NM_007216.4(HPS5):c.*1003_*1004del rs886048070
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1879_1881ACA[1] (p.Thr628del) rs886048077
NM_007216.4(HPS5):c.483-14del rs886048082
NM_012388.3(BLOC1S6):c.*1124G>T rs111954968
NM_012388.3(BLOC1S6):c.*1139G>A rs886051208
NM_012388.3(BLOC1S6):c.*1446G>A rs552878862
NM_012388.3(BLOC1S6):c.*165T>C rs181609658
NM_012388.3(BLOC1S6):c.*1706G>A rs7181436
NM_012388.3(BLOC1S6):c.*171A>T rs60561729
NM_012388.3(BLOC1S6):c.*188T>C rs58509170
NM_012388.3(BLOC1S6):c.*2007A>T rs183928015
NM_012388.3(BLOC1S6):c.*2022G>C rs188876635
NM_012388.3(BLOC1S6):c.*2043G>A rs146657000
NM_012388.3(BLOC1S6):c.*2209T>C rs7183382
NM_012388.3(BLOC1S6):c.*2295C>T rs140243429
NM_012388.3(BLOC1S6):c.*2404C>T rs13376
NM_012388.3(BLOC1S6):c.*2509T>C rs564382292
NM_012388.3(BLOC1S6):c.*2586T>C rs886051209
NM_012388.3(BLOC1S6):c.*274_*275TG[1] rs766946085
NM_012388.3(BLOC1S6):c.*2815A>C rs188301800
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[4] rs376870196
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_012388.3(BLOC1S6):c.*508G>C rs142031361
NM_012388.3(BLOC1S6):c.*589T>G rs753529567
NM_012388.3(BLOC1S6):c.*669C>T rs764795185
NM_012388.3(BLOC1S6):c.*797T>A rs11638237
NM_012388.3(BLOC1S6):c.*865G>A rs886051207
NM_012388.3(BLOC1S6):c.-118C>T rs536657988
NM_012388.3(BLOC1S6):c.-120C>T rs2304898
NM_012388.3(BLOC1S6):c.-134G>A rs141234222
NM_012388.3(BLOC1S6):c.-135C>T rs373895163
NM_012388.3(BLOC1S6):c.-153G>A rs115857479
NM_012388.3(BLOC1S6):c.-52C>T rs370519880
NM_012388.3(BLOC1S6):c.-78C>A rs758362537
NM_012388.3(BLOC1S6):c.432A>G (p.Gln144=) rs886051205
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_014324.6(AMACR):c.*1070C>T rs16892064
NM_014324.6(AMACR):c.*1144A>G rs840380
NM_014324.6(AMACR):c.*1961G>A rs113746028
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*617G>T rs12659370
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.*963C>T rs6898962
NM_014324.6(AMACR):c.*982C>T rs16892066
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_016180.3(SLC45A2):c.264delC rs775387808
NM_016180.4(SLC45A2):c.*29C>G rs886060518
NM_016180.5(SLC45A2):c.*1G>A
NM_016180.5(SLC45A2):c.*24A>C
NM_016180.5(SLC45A2):c.-12C>T
NM_016180.5(SLC45A2):c.-30G>T
NM_016180.5(SLC45A2):c.-7A>G
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135
NM_016180.5(SLC45A2):c.1042C>T (p.Arg348Cys)
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1089C>T (p.Tyr363=) rs148156477
NM_016180.5(SLC45A2):c.1090G>A (p.Glu364Lys) rs201140684
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353
NM_016180.5(SLC45A2):c.1208C>T (p.Thr403Met)
NM_016180.5(SLC45A2):c.1233G>A (p.Gly411=)
NM_016180.5(SLC45A2):c.1235C>T (p.Thr412Met)
NM_016180.5(SLC45A2):c.1251C>G (p.Leu417=)
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557
NM_016180.5(SLC45A2):c.1352G>A (p.Arg451His) rs142680641
NM_016180.5(SLC45A2):c.141C>T (p.Phe47=)
NM_016180.5(SLC45A2):c.1516G>A (p.Val506Ile)
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu)
NM_016180.5(SLC45A2):c.1533G>A (p.Ala511=) rs373174326
NM_016180.5(SLC45A2):c.1567_1574dup (p.Phe525fs) rs780732891
NM_016180.5(SLC45A2):c.161C>T (p.Ala54Val)
NM_016180.5(SLC45A2):c.178C>T (p.Leu60=)
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.264C>G (p.Val88=)
NM_016180.5(SLC45A2):c.287G>C (p.Arg96Pro)
NM_016180.5(SLC45A2):c.310C>T (p.Pro104Ser)
NM_016180.5(SLC45A2):c.324C>G (p.Thr108=)
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519
NM_016180.5(SLC45A2):c.432C>T (p.Val144=)
NM_016180.5(SLC45A2):c.528G>A (p.Lys176=)
NM_016180.5(SLC45A2):c.602A>G (p.Asp201Gly)
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613
NM_016180.5(SLC45A2):c.773C>T (p.Pro258Leu)
NM_016180.5(SLC45A2):c.799G>A (p.Glu267Lys)
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722
NM_016180.5(SLC45A2):c.834C>T (p.Tyr278=)
NM_016180.5(SLC45A2):c.888+14A>G
NM_016180.5(SLC45A2):c.986C>T (p.Thr329Ile)
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_024747.5(HPS6):c.*178T>G rs3816
NM_024747.5(HPS6):c.1039G>A (p.Val347Ile) rs139517839
NM_024747.5(HPS6):c.105T>C (p.Arg35=) rs573488604
NM_024747.5(HPS6):c.1060C>T (p.His354Tyr) rs149692177
NM_024747.5(HPS6):c.112C>G (p.Pro38Ala) rs746813506
NM_024747.5(HPS6):c.1181T>C (p.Val394Ala) rs146521433
NM_024747.5(HPS6):c.1201G>A (p.Asp401Asn) rs886046651
NM_024747.5(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) rs757589760
NM_024747.5(HPS6):c.1764G>A (p.Gln588=) rs145597717
NM_024747.5(HPS6):c.1779G>A (p.Pro593=) rs77529785
NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.5(HPS6):c.2181A>G (p.Ala727=) rs199518658
NM_024747.5(HPS6):c.2231G>T (p.Gly744Val) rs770148492
NM_024747.5(HPS6):c.2307G>A (p.Pro769=) rs553794194
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.298C>T (p.Leu100=) rs886046650
NM_024747.5(HPS6):c.337C>T (p.Arg113Trp) rs371307947
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024747.5(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024747.5(HPS6):c.541A>G (p.Thr181Ala) rs144257610
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) rs36078476
NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) rs767667481
NM_024747.6(HPS6):c.-5G>A
NM_024747.6(HPS6):c.1035G>A (p.Arg345=)
NM_024747.6(HPS6):c.1127G>A (p.Arg376His)
NM_024747.6(HPS6):c.1152T>C (p.Phe384=)
NM_024747.6(HPS6):c.1253G>T (p.Gly418Val)
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys)
NM_024747.6(HPS6):c.1363T>C (p.Leu455=)
NM_024747.6(HPS6):c.1430A>C (p.Asp477Ala)
NM_024747.6(HPS6):c.1679G>T (p.Gly560Val)
NM_024747.6(HPS6):c.1692C>A (p.Pro564=)
NM_024747.6(HPS6):c.1692C>T (p.Pro564=)
NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp)
NM_024747.6(HPS6):c.1810C>G (p.Leu604Val)
NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp)
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
NM_024747.6(HPS6):c.2045G>A (p.Arg682His)
NM_024747.6(HPS6):c.2112C>T (p.Leu704=)
NM_024747.6(HPS6):c.2166C>T (p.Phe722=)
NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr)
NM_024747.6(HPS6):c.2323C>G (p.Leu775Val)
NM_024747.6(HPS6):c.277G>T (p.Val93Leu)
NM_024747.6(HPS6):c.303C>T (p.Ala101=)
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243
NM_024747.6(HPS6):c.634G>A (p.Val212Met)
NM_024747.6(HPS6):c.732A>G (p.Gly244=)
NM_024747.6(HPS6):c.831C>G (p.Pro277=)
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_032122.4(DTNBP1):c.*105A>G rs1047631
NM_032122.4(DTNBP1):c.*138A>G rs886061222
NM_032122.4(DTNBP1):c.*151_*152dup rs555440397
NM_032122.4(DTNBP1):c.*2T>C rs201409652
NM_032122.4(DTNBP1):c.1000A>C (p.Thr334Pro) rs886061223
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032122.4(DTNBP1):c.812-13C>T rs377254012
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
NM_032122.5(DTNBP1):c.-109G>A rs559661829
NM_032122.5(DTNBP1):c.-142G>A rs530331862
NM_032122.5(DTNBP1):c.-159G>A rs886061227
NM_032122.5(DTNBP1):c.-18A>G rs11558324
NM_032122.5(DTNBP1):c.255G>T (p.Ala85=) rs200096549
NM_032122.5(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_032122.5(DTNBP1):c.356-7C>T rs3829893
NM_032122.5(DTNBP1):c.438A>G (p.Arg146=) rs369015562
NM_032122.5(DTNBP1):c.487A>C (p.Arg163=) rs146546977
NM_032122.5(DTNBP1):c.532G>T (p.Ala178Ser) rs75704383
NM_032122.5(DTNBP1):c.667+2C>T rs61739410
NM_032122.5(DTNBP1):c.741G>A (p.Ser247=) rs886061224
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454
NM_032122.5(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032383.4(HPS3):c.-108C>T rs886058074
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*129_*130insGC rs886058082
NM_032383.5(HPS3):c.*135T>C rs375383865
NM_032383.5(HPS3):c.*138A>T
NM_032383.5(HPS3):c.*170C>T rs182666670
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.*207C>T
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*95A>C
NM_032383.5(HPS3):c.*96T>A rs879086473
NM_032383.5(HPS3):c.*96_*97TC[3] rs1553756780
NM_032383.5(HPS3):c.*96_*97insATCACA rs374839757
NM_032383.5(HPS3):c.*97_*98CA[16] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[17] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[20] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[21] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[22] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[23] rs113015797
NM_032383.5(HPS3):c.*97_*98CA[25] rs113015797
NM_032383.5(HPS3):c.*97_*98insTCACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCACACACAC rs72453449
NM_032383.5(HPS3):c.*97_*98insTCTCACAC rs72453449
NM_032383.5(HPS3):c.*98A>T
NM_032383.5(HPS3):c.-43C>A rs375227018
NM_032383.5(HPS3):c.-50C>T
NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.1058A>G (p.Tyr353Cys)
NM_032383.5(HPS3):c.10C>T (p.Leu4=)
NM_032383.5(HPS3):c.1125G>A (p.Gln375=)
NM_032383.5(HPS3):c.1136C>T (p.Thr379Met) rs149620802
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494
NM_032383.5(HPS3):c.1153G>A (p.Val385Ile) rs749726836
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.5(HPS3):c.1200G>C (p.Ala400=)
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
NM_032383.5(HPS3):c.132C>A (p.Phe44Leu)
NM_032383.5(HPS3):c.1330C>A (p.His444Asn)
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys) rs775762509
NM_032383.5(HPS3):c.1403C>T (p.Ser468Leu)
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.1509+5T>C
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515
NM_032383.5(HPS3):c.1768C>T (p.Arg590Cys) rs199882259
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
NM_032383.5(HPS3):c.1785A>G (p.Val595=)
NM_032383.5(HPS3):c.1787A>G (p.Glu596Gly)
NM_032383.5(HPS3):c.1807G>A (p.Glu603Lys)
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.196C>T (p.Arg66Cys) rs529838933
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498
NM_032383.5(HPS3):c.2124C>T (p.Gly708=) rs138987987
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249
NM_032383.5(HPS3):c.2224G>A (p.Val742Met) rs886058079
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+8G>T
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser)
NM_032383.5(HPS3):c.323T>C (p.Met108Thr)
NM_032383.5(HPS3):c.338T>G (p.Val113Gly)
NM_032383.5(HPS3):c.392C>T (p.Pro131Leu)
NM_032383.5(HPS3):c.398C>T (p.Ser133Leu)
NM_032383.5(HPS3):c.500A>G (p.Asn167Ser)
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346
NM_032383.5(HPS3):c.571G>A (p.Val191Ile) rs779612018
NM_032383.5(HPS3):c.573T>C (p.Val191=) rs746331416
NM_032383.5(HPS3):c.592G>A (p.Val198Ile)
NM_032383.5(HPS3):c.632T>C (p.Leu211Pro)
NM_032383.5(HPS3):c.677A>G (p.His226Arg)
NM_032383.5(HPS3):c.694A>G (p.Ile232Val)
NM_032383.5(HPS3):c.700C>T (p.Arg234Trp)
NM_032383.5(HPS3):c.716T>G (p.Ile239Ser) rs886058075
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn)
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.884+11_884+12insT rs886058076
NM_032383.5(HPS3):c.884+21_884+25dup rs10693502
NM_032383.5(HPS3):c.884+22_884+25dup rs10693502
NM_032383.5(HPS3):c.884+24_884+25dup rs10693502
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032383.5(HPS3):c.938A>G (p.His313Arg)
NM_032383.5(HPS3):c.963C>T (p.Tyr321=)
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908
NM_152841.2(HPS4):c.*1024_*1028del rs886057313
NM_152841.2(HPS4):c.*1120C>T rs886057312
NM_152841.2(HPS4):c.*1191_*1192TG[16] rs134978
NM_152841.2(HPS4):c.*1191_*1192TG[17] rs134978
NM_152841.2(HPS4):c.*1191_*1192TG[20] rs134978
NM_152841.2(HPS4):c.*1207T>C
NM_152841.2(HPS4):c.*1207_*1227delinsC rs886057310
NM_152841.2(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_152841.2(HPS4):c.*1209T>C
NM_152841.2(HPS4):c.*1223T>C
NM_152841.2(HPS4):c.*1223_*1238del rs886057303
NM_152841.2(HPS4):c.*1225T>C rs886057311
NM_152841.2(HPS4):c.*1227T>C rs7293228
NM_152841.2(HPS4):c.*1227_*1236del rs755364858
NM_152841.2(HPS4):c.*1229C>T rs6147576
NM_152841.2(HPS4):c.*1229_*1230CG[4] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[5] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[6] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[7] rs10573454
NM_152841.2(HPS4):c.*1229_*1230CG[8] rs10573454
NM_152841.2(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_152841.2(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_152841.2(HPS4):c.*1231C>T rs56271395
NM_152841.2(HPS4):c.*1233C>T
NM_152841.2(HPS4):c.*1235C>T
NM_152841.2(HPS4):c.*1236G>A
NM_152841.2(HPS4):c.*1236_*1237insTAA rs1555885488
NM_152841.2(HPS4):c.*1237C>T rs886057305
NM_152841.2(HPS4):c.*1250C>T rs7291576
NM_152841.2(HPS4):c.*1253G>A rs534586940
NM_152841.2(HPS4):c.*1256C>T rs886057299
NM_152841.2(HPS4):c.*1359A>T rs886057298
NM_152841.2(HPS4):c.*1387T>A
NM_152841.2(HPS4):c.*1528T>G
NM_152841.2(HPS4):c.*1576C>T rs886057297
NM_152841.2(HPS4):c.*1589C>A rs117397456
NM_152841.2(HPS4):c.*1594G>C rs886057296
NM_152841.2(HPS4):c.*1613C>A rs3752589
NM_152841.2(HPS4):c.*1687A>G rs3752588
NM_152841.2(HPS4):c.*1691G>A
NM_152841.2(HPS4):c.*1752C>G rs886057295
NM_152841.2(HPS4):c.*1762G>A rs139974836
NM_152841.2(HPS4):c.*1850G>A
NM_152841.2(HPS4):c.*1962C>T
NM_152841.2(HPS4):c.*197G>T rs550753111
NM_152841.2(HPS4):c.*2171C>T
NM_152841.2(HPS4):c.*2269A>G
NM_152841.2(HPS4):c.*228A>C
NM_152841.2(HPS4):c.*333C>T
NM_152841.2(HPS4):c.*369C>T rs886057316
NM_152841.2(HPS4):c.*391G>A rs886057315
NM_152841.2(HPS4):c.*423G>A
NM_152841.2(HPS4):c.*469C>T
NM_152841.2(HPS4):c.*477C>T
NM_152841.2(HPS4):c.*515G>C rs886057314
NM_152841.2(HPS4):c.*751G>A rs190837977
NM_152841.2(HPS4):c.*769G>A
NM_152841.2(HPS4):c.*842G>A
NM_152841.2(HPS4):c.*946G>A
NM_152841.2(HPS4):c.1045T>A (p.Ser349Thr) rs114685298
NM_152841.2(HPS4):c.1046C>G (p.Ser349Cys) rs116769827
NM_152841.2(HPS4):c.113C>A (p.Ser38Tyr)
NM_152841.2(HPS4):c.1177A>C (p.Arg393=) rs375655372
NM_152841.2(HPS4):c.118-6C>T
NM_152841.2(HPS4):c.1217G>A (p.Ser406Asn) rs201043011
NM_152841.2(HPS4):c.1312C>G (p.Leu438Val) rs2014410
NM_152841.2(HPS4):c.1381C>T (p.Arg461Cys)
NM_152841.2(HPS4):c.1440G>A (p.Thr480=)
NM_152841.2(HPS4):c.1464T>A (p.Asp488Glu) rs777570870
NM_152841.2(HPS4):c.1520C>T (p.Ser507Leu) rs150216540
NM_152841.2(HPS4):c.1528T>C (p.Cys510Arg) rs148134252
NM_152841.2(HPS4):c.1626C>T (p.Cys542=) rs199740072
NM_152841.2(HPS4):c.162A>C (p.Gly54=) rs886057320
NM_152841.2(HPS4):c.1639G>A (p.Val547Met) rs5752330
NM_152841.2(HPS4):c.1664C>T (p.Pro555Leu)
NM_152841.2(HPS4):c.1665G>A (p.Pro555=) rs527653764
NM_152841.2(HPS4):c.1677C>T (p.Asp559=) rs759632995
NM_152841.2(HPS4):c.1685C>T (p.Ala562Val) rs140234219
NM_152841.2(HPS4):c.1732G>A (p.Glu578Lys) rs145481980
NM_152841.2(HPS4):c.1743G>A (p.Leu581=)
NM_152841.2(HPS4):c.1801C>T (p.His601Tyr) rs1894706
NM_152841.2(HPS4):c.1842G>A (p.Pro614=) rs373421312
NM_152841.2(HPS4):c.1860G>T (p.Gln620His) rs1894704
NM_152841.2(HPS4):c.1868G>A (p.Arg623His) rs78892693
NM_152841.2(HPS4):c.1882G>A (p.Val628Ile)
NM_152841.2(HPS4):c.1884C>T (p.Val628=) rs35993959
NM_152841.2(HPS4):c.1932G>A (p.Met644Ile)
NM_152841.2(HPS4):c.1944T>C (p.Asn648=) rs202120615
NM_152841.2(HPS4):c.2064C>T (p.Ser688=) rs138189133
NM_152841.2(HPS4):c.235A>G (p.Ile79Val) rs149830675
NM_152841.2(HPS4):c.358C>G (p.Leu120Val) rs180729981
NM_152841.2(HPS4):c.396G>A (p.Thr132=)
NM_152841.2(HPS4):c.422T>C (p.Ile141Thr)
NM_152841.2(HPS4):c.538C>T (p.Arg180Cys) rs369104384
NM_152841.2(HPS4):c.543G>A (p.Ser181=) rs13054747
NM_152841.2(HPS4):c.555C>T (p.Leu185=)
NM_152841.2(HPS4):c.578G>A (p.Gly193Glu)
NM_152841.2(HPS4):c.593C>T (p.Thr198Ile) rs886057319
NM_152841.2(HPS4):c.602C>T (p.Pro201Leu) rs746492833
NM_152841.2(HPS4):c.603G>A (p.Pro201=)
NM_152841.2(HPS4):c.622G>A (p.Val208Ile)
NM_152841.2(HPS4):c.665C>T (p.Thr222Met)
NM_152841.2(HPS4):c.66G>A (p.Lys22=) rs763708665
NM_152841.2(HPS4):c.671A>G (p.Glu224Gly) rs713998
NM_152841.2(HPS4):c.672G>A (p.Glu224=) rs758547221
NM_152841.2(HPS4):c.681G>A (p.Pro227=) rs3747132
NM_152841.2(HPS4):c.689A>G (p.His230Arg)
NM_152841.2(HPS4):c.691+10G>A
NM_152841.2(HPS4):c.691+15G>T rs762647750
NM_152841.2(HPS4):c.691+8G>C
NM_152841.2(HPS4):c.695C>T (p.Ala232Val) rs77597168
NM_152841.2(HPS4):c.712G>A (p.Val238Ile)
NM_152841.2(HPS4):c.726T>A (p.Pro242=)
NM_152841.2(HPS4):c.736A>T (p.Thr246Ser) rs34962745
NM_152841.2(HPS4):c.750C>T (p.Ala250=) rs886057318
NM_152841.2(HPS4):c.819T>A (p.Asp273Glu)
NM_152841.2(HPS4):c.862C>G (p.Leu288Val) rs886057317
NM_152841.2(HPS4):c.873C>T (p.Asn291=) rs138343171
NM_152841.2(HPS4):c.907A>G (p.Thr303Ala) rs150057646
NM_152841.2(HPS4):c.915T>C (p.Asp305=)
NM_152841.2(HPS4):c.916C>A (p.Pro306Thr) rs140732502
NM_152841.2(HPS4):c.943G>C (p.Asp315His) rs143965829
NM_152841.2(HPS4):c.999C>T (p.Pro333=)
NM_181507.1(HPS5):c.*1023T>G rs886048069
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*182C>T rs886048074
NM_181507.1(HPS5):c.*299C>T rs12419588
NM_181507.1(HPS5):c.*300T>C rs12416821
NM_181507.1(HPS5):c.*362G>A rs148862838
NM_181507.1(HPS5):c.*443T>A rs74602396
NM_181507.1(HPS5):c.*464C>A rs1046611
NM_181507.1(HPS5):c.*475C>T rs1046615
NM_181507.1(HPS5):c.*655A>C rs886048073
NM_181507.1(HPS5):c.*688A>G rs145507598
NM_181507.1(HPS5):c.*702A>T rs79086536
NM_181507.1(HPS5):c.*70C>T rs371535842
NM_181507.1(HPS5):c.*804C>T rs1046628
NM_181507.1(HPS5):c.*812A>C rs755078355
NM_181507.1(HPS5):c.*956T>G rs886048072
NM_181507.1(HPS5):c.*960T>A rs886048071
NM_181507.1(HPS5):c.-142C>T rs4150528
NM_181507.1(HPS5):c.-197C>T rs886048085
NM_181507.1(HPS5):c.-217G>A rs761585857
NM_181507.1(HPS5):c.-250G>T rs4150529
NM_181507.1(HPS5):c.-251C>A rs4150530
NM_181507.1(HPS5):c.-263A>G rs886048086
NM_181507.1(HPS5):c.-64A>G rs886048084
NM_181507.1(HPS5):c.-91C>G rs4150527
NM_181507.1(HPS5):c.1075C>T (p.Arg359Cys) rs143073506
NM_181507.1(HPS5):c.1076G>A (p.Arg359His) rs774619545
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1475T>A (p.Leu492Gln) rs190883305
NM_181507.1(HPS5):c.1479A>G (p.Pro493=) rs886048081
NM_181507.1(HPS5):c.1496C>T (p.Ser499Leu) rs756408229
NM_181507.1(HPS5):c.1510+3G>A rs886048080
NM_181507.1(HPS5):c.1549A>C (p.Lys517Gln) rs770838422
NM_181507.1(HPS5):c.1609G>T (p.Val537Leu) rs149677540
NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.241G>A (p.Ala81Thr) rs147053126
NM_181507.1(HPS5):c.2441-8T>C rs144196437
NM_181507.1(HPS5):c.2461G>T (p.Val821Leu) rs373228021
NM_181507.1(HPS5):c.2521G>T (p.Val841Phe) rs142090060
NM_181507.1(HPS5):c.2562-14G>C rs199999276
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.2866T>C (p.Tyr956His) rs147430035
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) rs369368194
NM_181507.1(HPS5):c.309A>G (p.Glu103=) rs77722090
NM_181507.1(HPS5):c.3214G>A (p.Ala1072Thr) rs886048075
NM_181507.1(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179
NM_181507.1(HPS5):c.3259C>T (p.Leu1087=) rs868410563
NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_181507.2(HPS5):c.*1201A>G
NM_181507.2(HPS5):c.*157G>A
NM_181507.2(HPS5):c.*276T>G
NM_181507.2(HPS5):c.*469A>G
NM_181507.2(HPS5):c.*839T>C
NM_181507.2(HPS5):c.*95C>A
NM_181507.2(HPS5):c.-195A>G
NM_181507.2(HPS5):c.-75A>G
NM_181507.2(HPS5):c.-82T>G
NM_181507.2(HPS5):c.1012A>C (p.Asn338His)
NM_181507.2(HPS5):c.1032C>T (p.His344=)
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
NM_181507.2(HPS5):c.1067C>A (p.Ser356Tyr)
NM_181507.2(HPS5):c.1165-15C>A rs7128146
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.2(HPS5):c.1325A>G (p.Glu442Gly)
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile)
NM_181507.2(HPS5):c.1635-4C>G rs79009787
NM_181507.2(HPS5):c.1673G>T (p.Gly558Val)
NM_181507.2(HPS5):c.1692T>C (p.Pro564=)
NM_181507.2(HPS5):c.1769A>C (p.Lys590Thr)
NM_181507.2(HPS5):c.1785-13C>T rs73430857
NM_181507.2(HPS5):c.1803T>C (p.Thr601=)
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn)
NM_181507.2(HPS5):c.191G>T (p.Trp64Leu)
NM_181507.2(HPS5):c.2058A>G (p.Glu686=)
NM_181507.2(HPS5):c.2194G>C (p.Gly732Arg)
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.2(HPS5):c.2716C>T (p.Arg906Trp)
NM_181507.2(HPS5):c.2721A>G (p.Ser907=)
NM_181507.2(HPS5):c.2837+15del rs886048076
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.2(HPS5):c.3058+9A>G rs2049129
NM_181507.2(HPS5):c.3257G>T (p.Gly1086Val)
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.2(HPS5):c.3364C>T (p.Arg1122Trp)
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.2(HPS5):c.535G>A (p.Val179Ile)
NM_181507.2(HPS5):c.587G>A (p.Arg196Gln)
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_181507.2(HPS5):c.885C>T (p.Leu295=)
NM_181508.1(HPS5):c.-249C>T
NM_183040.2(DTNBP1):c.355+10A>G rs368923800
NM_183040.2(DTNBP1):c.489-12_489-8del rs199770715
NM_183040.2(DTNBP1):c.489-21dup rs199770715
NM_183040.2(DTNBP1):c.489-8del rs199770715
NM_183040.2(DTNBP1):c.667+3G>A rs755341865
NM_183040.2(DTNBP1):c.668-14del rs886061225
NM_183040.2(DTNBP1):c.668-8A>G rs757305528
NM_183235.2(RAB27A):c.*2554C>T rs28564077
NM_183235.3(RAB27A):c.*1013T>C
NM_183235.3(RAB27A):c.*1110A>G
NM_183235.3(RAB27A):c.*1156T>G rs747438491
NM_183235.3(RAB27A):c.*1170T>G rs574506558
NM_183235.3(RAB27A):c.*1172T>C
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*1296T>G rs560689599
NM_183235.3(RAB27A):c.*131C>T
NM_183235.3(RAB27A):c.*132G>A
NM_183235.3(RAB27A):c.*1392A>C rs12907749
NM_183235.3(RAB27A):c.*1418T>A rs1061874
NM_183235.3(RAB27A):c.*1427G>A rs1061875
NM_183235.3(RAB27A):c.*1473T>C rs568895039
NM_183235.3(RAB27A):c.*1485G>A rs886051308
NM_183235.3(RAB27A):c.*1493T>A
NM_183235.3(RAB27A):c.*14C>T rs1050931
NM_183235.3(RAB27A):c.*1546T>C
NM_183235.3(RAB27A):c.*1594A>G rs1061821
NM_183235.3(RAB27A):c.*1598A>G
NM_183235.3(RAB27A):c.*1612dup rs886051307
NM_183235.3(RAB27A):c.*162G>C rs886051315
NM_183235.3(RAB27A):c.*1647T>G rs1061822
NM_183235.3(RAB27A):c.*1662A>T rs1061823
NM_183235.3(RAB27A):c.*1669A>G
NM_183235.3(RAB27A):c.*1672T>C rs886051306
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1742A>G rs1061824
NM_183235.3(RAB27A):c.*1842C>T
NM_183235.3(RAB27A):c.*1863C>G
NM_183235.3(RAB27A):c.*1863C>T rs566144766
NM_183235.3(RAB27A):c.*1878T>C rs552625680
NM_183235.3(RAB27A):c.*1904A>T
NM_183235.3(RAB27A):c.*1915A>T
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
NM_183235.3(RAB27A):c.*1919A>T
NM_183235.3(RAB27A):c.*1922_*1923insTAA rs555244731
NM_183235.3(RAB27A):c.*1926T>A rs8028801
NM_183235.3(RAB27A):c.*1931T>C rs6493770
NM_183235.3(RAB27A):c.*2007G>A rs6493769
NM_183235.3(RAB27A):c.*2031C>T
NM_183235.3(RAB27A):c.*2067C>G rs7168226
NM_183235.3(RAB27A):c.*2135C>A
NM_183235.3(RAB27A):c.*2160A>G
NM_183235.3(RAB27A):c.*2216A>G
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*2334C>A rs886051304
NM_183235.3(RAB27A):c.*2343G>C
NM_183235.3(RAB27A):c.*2349A>G rs76970799
NM_183235.3(RAB27A):c.*2415T>C
NM_183235.3(RAB27A):c.*28A>G
NM_183235.3(RAB27A):c.*370T>C
NM_183235.3(RAB27A):c.*387A>G rs73407873
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*415C>T
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*429C>T
NM_183235.3(RAB27A):c.*457A>G
NM_183235.3(RAB27A):c.*472A>C
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*595G>T
NM_183235.3(RAB27A):c.*668A>G
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*725C>T
NM_183235.3(RAB27A):c.*730T>C rs886051310
NM_183235.3(RAB27A):c.*731G>T rs76097718
NM_183235.3(RAB27A):c.*814G>A
NM_183235.3(RAB27A):c.*842G>A rs59982153
NM_183235.3(RAB27A):c.*852C>T rs3179664
NM_183235.3(RAB27A):c.*854A>G
NM_183235.3(RAB27A):c.*858G>A rs886051309
NM_183235.3(RAB27A):c.*936C>A rs1061870
NM_183235.3(RAB27A):c.*949A>G rs1061873
NM_183235.3(RAB27A):c.*9G>A
NM_183235.3(RAB27A):c.-142-110G>A
NM_183235.3(RAB27A):c.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-142-5A>G rs61436564
NM_183235.3(RAB27A):c.-142-65C>G
NM_183235.3(RAB27A):c.-142-84C>T
NM_183235.3(RAB27A):c.-142-86A>T
NM_183235.3(RAB27A):c.-23+13A>G
NM_183235.3(RAB27A):c.-58A>G rs572723752
NM_183235.3(RAB27A):c.-93G>T
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.344-10A>G
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg)
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527
NM_212550.4(BLOC1S3):c.*1086G>A rs116251719
NM_212550.4(BLOC1S3):c.*1253C>T rs576936281
NM_212550.4(BLOC1S3):c.*1286T>C rs79968982
NM_212550.4(BLOC1S3):c.*1471C>T rs73939649
NM_212550.4(BLOC1S3):c.*155_*156insAA rs570559399
NM_212550.4(BLOC1S3):c.*157A>G rs886054492
NM_212550.4(BLOC1S3):c.*1700G>A rs76151738
NM_212550.4(BLOC1S3):c.*1746C>G rs74798348
NM_212550.4(BLOC1S3):c.*1869G>A rs184044224
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.*285T>A rs6509200
NM_212550.4(BLOC1S3):c.*31T>C rs777965410
NM_212550.4(BLOC1S3):c.*331T>A rs747825460
NM_212550.4(BLOC1S3):c.*389G>A rs117001334
NM_212550.4(BLOC1S3):c.*426C>G rs142584236
NM_212550.4(BLOC1S3):c.*465A>T rs115683085
NM_212550.4(BLOC1S3):c.*553A>T rs541332923
NM_212550.4(BLOC1S3):c.*69G>A rs886054491
NM_212550.4(BLOC1S3):c.*946C>T rs111903160
NM_212550.4(BLOC1S3):c.-10+4C>G rs116105443
NM_212550.4(BLOC1S3):c.-42C>T rs543407501
NM_212550.4(BLOC1S3):c.-57A>T rs116448245
NM_212550.4(BLOC1S3):c.-71G>A rs59215448
NM_212550.4(BLOC1S3):c.-73A>C rs8104024
NM_212550.4(BLOC1S3):c.-7C>G rs200767686
NM_212550.4(BLOC1S3):c.17G>A (p.Arg6His) rs145609489
NM_212550.4(BLOC1S3):c.205C>T (p.Pro69Ser) rs776029125
NM_212550.4(BLOC1S3):c.234G>A (p.Arg78=) rs886054489
NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) rs886054490
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372
NM_212550.4(BLOC1S3):c.507G>A (p.Ala169=) rs756965386
NM_212550.4(BLOC1S3):c.6G>T (p.Ala2=) rs746634818
NM_212550.5(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506
NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=) rs546645333
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) rs571269735

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