ClinVar Miner

List of variants studied for albinism

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1487
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HGVS dbSNP
11p15.1 deletion
AP3B1, 1-BP INS, 1618G
AP3B1, IVS14DS, T-C, +6
GPR143, 14-BP DEL, NT816
GPR143, 17-BP DEL
GPR143, 2-BP INS, NT992
GPR143, 420G-A
GRCh37/hg19 15q13.1(chr15:28262885-28265761)x1
HPS3, 89-BP INS
HPS4, 1-BP DEL, C, CODON 685
MYO5A, 47-BP INS, NT4634
MYO5A, F-EXON DEL
NC_000005.9:g.(?_77536666)_(77590423_?)dup
NC_000011.9:g.(88911941_88911969)_(88961139_89017940)del
NC_000015.9:g.(28096556_28116427)_(28116428_28116982)del
NC_000015.9:g.(28231692_28234685)_(28234686_28235802)del
NC_000015.9:g.(28260053_28263554)_(28263623_28266235)del
NC_000015.9:g.(?_55516067)_(55516230_?)del
NC_000015.9:g.(?_55516067)_(55527152_?)del
NC_000015.9:g.(?_55526960)_(55527152_?)del
NC_000023.9:g.9688757-?_9693917+?del
NG_009846.1:g.103171_225796del
NM_000081.3(LYST):c.7060_7066del (p.Leu2354Metfs)
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
NM_000081.4(LYST):c.7229+50CTTTT[7]
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
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.*343A>G rs886058085
NM_000096.4(CP):c.*373C>G rs370247691
NM_000096.4(CP):c.*509A>C rs13098532
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.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000195.5(HPS1):c.*1005A>G rs186229582
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1167G>A rs1061437
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.*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.*452G>A rs701801
NM_000195.5(HPS1):c.*460C>T rs114794063
NM_000195.5(HPS1):c.*473G>A rs3830019
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.*694C>T rs7075480
NM_000195.5(HPS1):c.*706C>G rs3830020
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.*982T>C rs1739
NM_000195.5(HPS1):c.-105-9C>T rs2296429
NM_000195.5(HPS1):c.-153del rs886046593
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.1096C>A (p.Pro366Thr)
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.1286G>A (p.Arg429His) rs201728087
NM_000195.5(HPS1):c.1323dup (p.Gln442fs) rs281865085
NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1397+7G>C rs2296432
NM_000195.5(HPS1):c.1397+8G>T rs2296433
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1599-15A>G rs2296435
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)
NM_000195.5(HPS1):c.163_165ATC[1] (p.Ile56del) rs281865073
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter)
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765
NM_000195.5(HPS1):c.1691del (p.Lys564fs) rs281865087
NM_000195.5(HPS1):c.1744-2A>C rs281865088
NM_000195.5(HPS1):c.1749G>A (p.Trp583Ter) rs281865089
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1857+2T>C
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter)
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.1915G>A (p.Gly639Ser) rs116698870
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
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.2056C>T (p.Gln686Ter)
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.233_242del (p.Asn78fs) rs773323079
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.288del (p.Asp97fs) rs281865074
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.355del (p.His119fs) rs281865075
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.399-14G>A
NM_000195.5(HPS1):c.418del (p.Ala140fs) rs281865078
NM_000195.5(HPS1):c.507+2T>G
NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)
NM_000195.5(HPS1):c.532dup (p.Gln178fs) rs281865079
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
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.716T>C (p.Leu239Pro) rs281865080
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.932del (p.Ser311fs) rs281865091
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.974_975insC (p.Met325fs) rs281865092
NM_000195.5(HPS1):c.987+13T>C rs12571249
NM_000259.3(MYO5A):c.1543-84del
NM_000259.3(MYO5A):c.2012+1G>T rs769021352
NM_000259.3(MYO5A):c.2332C>T (p.Arg778Ter) rs764371254
NM_000259.3(MYO5A):c.3098T>G (p.Leu1033Trp) rs751411629
NM_000259.3(MYO5A):c.3736C>T (p.Arg1246Cys) rs1058219
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.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
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.695C>A (p.Thr232Lys) rs137852297
NM_000273.3(GPR143):c.779A>G (p.Asn260Ser) rs62635042
NM_000273.3(GPR143):c.874T>G (p.Trp292Gly) rs62635045
NM_000275.2(OCA2):c.647-?_807+?del
NM_000275.2(OCA2):c.647-?_890+?del
NM_000275.2(OCA2):c.647_807del (p.Ser216Cysfs) rs1555375711
NM_000275.3(OCA2):c.*166C>T rs182290687
NM_000275.3(OCA2):c.*21G>A rs369189827
NM_000275.3(OCA2):c.*300T>C rs776180839
NM_000275.3(OCA2):c.*50A>G rs7175266
NM_000275.3(OCA2):c.-109T>C rs886051027
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246
NM_000275.3(OCA2):c.1044+1G>T rs185504549
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.1056A>C (p.Arg352Ser) rs1566767423
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404
NM_000275.3(OCA2):c.1075G>C (p.Gly359Arg) rs1555368749
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150
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.1120_1123del (p.Pro374fs)
NM_000275.3(OCA2):c.1182+1G>A rs371963034
NM_000275.3(OCA2):c.1182+2dup rs1567200202
NM_000275.3(OCA2):c.1182G>A (p.Met394Ile) rs121918171
NM_000275.3(OCA2):c.1183-4A>G rs10852218
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594
NM_000275.3(OCA2):c.121_128del (p.Gly41fs) rs1555392037
NM_000275.3(OCA2):c.1239+5G>C rs757119713
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.1286T>C (p.Leu429Pro)
NM_000275.3(OCA2):c.1303G>A (p.Val435Ile) rs549399707
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326
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.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.1427A>G (p.Asn476Ser) rs763819379
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.1456G>T (p.Asp486Tyr) rs772324459
NM_000275.3(OCA2):c.1460C>A (p.Pro487His)
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170
NM_000275.3(OCA2):c.1503+5G>A rs368124046
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.1637-2A>G
NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg) rs1384042381
NM_000275.3(OCA2):c.1699G>T (p.Glu567Ter) rs779086242
NM_000275.3(OCA2):c.171del (p.Gln58fs) rs1555391997
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947
NM_000275.3(OCA2):c.1785-7C>G rs375281082
NM_000275.3(OCA2):c.1842+1G>T rs387906240
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1951+4A>G rs759740402
NM_000275.3(OCA2):c.1960del (p.Ala654fs) rs387906241
NM_000275.3(OCA2):c.1969G>C (p.Gly657Arg) rs879253729
NM_000275.3(OCA2):c.1973C>T (p.Ala658Val)
NM_000275.3(OCA2):c.2012A>T (p.Glu671Val) rs797045838
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169
NM_000275.3(OCA2):c.2055del (p.Phe685fs) rs772595552
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416
NM_000275.3(OCA2):c.2080-1G>A rs1555422232
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.216C>G (p.Leu72=) rs766072141
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg) rs768934658
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
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.2330G>A (p.Cys777Tyr) rs776814755
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212
NM_000275.3(OCA2):c.2344G>A (p.Gly782Arg) rs797045839
NM_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
NM_000275.3(OCA2):c.2360C>A (p.Ala787Glu) rs200457227
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu)
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.3(OCA2):c.2432+11A>G rs145577954
NM_000275.3(OCA2):c.48G>A (p.Ala16=) rs371834997
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)
NM_000275.3(OCA2):c.588A>C (p.Leu196=) rs374350218
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.594G>A (p.Pro198=) rs762764142
NM_000275.3(OCA2):c.646+1825_807+679del
NM_000275.3(OCA2):c.648C>T (p.Ser216=) rs886051026
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.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.807+1G>T rs763219039
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
NM_000275.3(OCA2):c.85G>A (p.Ala29Thr) rs759291231
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000275.3(OCA2):c.987delinsAGA (p.Gln330fs) rs1566797858
NM_000372.4(TYR):c.-199C>A rs1799989
NM_000372.4(TYR):c.286dupA (p.Met96fs) rs61753190
NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) rs61754368
NM_000372.4(TYR):c.[1276_1282delATGGTTC];[139G>A]
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.101A>C (p.Glu34Ala) rs1555083355
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316
NM_000372.5(TYR):c.1037-18T>G rs781052288
NM_000372.5(TYR):c.1037-1G>A rs61754382
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) rs773970123
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.5(TYR):c.1100A>G (p.His367Arg) rs61754384
NM_000372.5(TYR):c.1110G>A (p.Met370Ile) rs1207709557
NM_000372.5(TYR):c.1112A>C (p.Asn371Thr) rs61754387
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388
NM_000372.5(TYR):c.1146C>A (p.Asn382Lys) rs104894315
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.5(TYR):c.1164del (p.His389fs) rs281865522
NM_000372.5(TYR):c.1184+2T>C rs758119014
NM_000372.5(TYR):c.1198T>A (p.Trp400Arg)
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1209G>T (p.Arg403Ser) rs104894316
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.121G>A (p.Gly41Arg)
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392
NM_000372.5(TYR):c.125A>G (p.Asp42Gly) rs28940878
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474
NM_000372.5(TYR):c.1265G>A (p.Arg422Gln) rs61754393
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1270T>A (p.Ser424Thr) rs748618759
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382
NM_000372.5(TYR):c.1366+4A>G rs61754398
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.5(TYR):c.1456del (p.Ala486fs)
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399
NM_000372.5(TYR):c.1501dup (p.Arg501fs) rs281865328
NM_000372.5(TYR):c.157G>T (p.Gly53Cys)
NM_000372.5(TYR):c.163T>G (p.Cys55Gly) rs367543067
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879
NM_000372.5(TYR):c.164G>C (p.Cys55Ser) rs28940879
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.1A>G (p.Met1Val) rs28940881
NM_000372.5(TYR):c.223G>T (p.Asp75Tyr) rs1565386425
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877
NM_000372.5(TYR):c.272G>A (p.Cys91Tyr) rs137854890
NM_000372.5(TYR):c.325G>A (p.Gly109Arg) rs61753253
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.446A>G (p.Tyr149Cys) rs797046082
NM_000372.5(TYR):c.452T>G (p.Ile151Ser) rs747095957
NM_000372.5(TYR):c.529G>C (p.Val177Leu)
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360
NM_000372.5(TYR):c.551C>G (p.Ser184Ter) rs367543066
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000372.5(TYR):c.580del (p.Ile194fs) rs797046132
NM_000372.5(TYR):c.585G>A (p.Trp195Ter) rs147574809
NM_000372.5(TYR):c.613C>A (p.Pro205Thr) rs61754362
NM_000372.5(TYR):c.616G>A (p.Ala206Thr) rs28940880
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178
NM_000372.5(TYR):c.635G>A (p.Arg212Lys) rs377209424
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083
NM_000372.5(TYR):c.661G>A (p.Glu221Lys) rs758115945
NM_000372.5(TYR):c.705T>G (p.Tyr235Ter) rs138817690
NM_000372.5(TYR):c.707G>A (p.Trp236Ter) rs61754367
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.739T>C (p.Cys247Arg) rs367543068
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.820-3C>G rs61754371
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.880G>A (p.Glu294Lys) rs757754120
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000372.5(TYR):c.902C>T (p.Pro301Leu) rs796051880
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.943_948del (p.Ser315_Ala316del) rs1565391977
NM_000372.5(TYR):c.980A>G (p.Tyr327Cys) rs1031268531
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000550.3(TYRP1):c.*123C>A rs683
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.*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.*853A>C rs910
NM_000550.3(TYRP1):c.*908T>C rs1063380
NM_000550.3(TYRP1):c.*955dup rs763340664
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>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.1057_1060del (p.Asn353fs) rs387906562
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln) rs281865424
NM_000550.3(TYRP1):c.107del (p.Ala35_Leu36insTer) rs387906561
NM_000550.3(TYRP1):c.1082-8G>A rs79992094
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000550.3(TYRP1):c.1120C>T (p.Arg374Ter) rs121912778
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145
NM_000550.3(TYRP1):c.1145T>C (p.Leu382Pro) rs776174514
NM_000550.3(TYRP1):c.1261+1G>A rs140365820
NM_000550.3(TYRP1):c.1279T>C (p.Leu427=) rs148782717
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009
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.256G>T (p.Asp86Tyr) rs1563851602
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.497C>G (p.Ser166Ter) rs104894130
NM_000550.3(TYRP1):c.527C>T (p.Thr176Met) rs886063413
NM_000550.3(TYRP1):c.670C>T (p.His224Tyr) rs1057518841
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.913+9C>T rs147268542
NM_000550.3(TYRP1):c.917C>G (p.Thr306Ser) rs773285733
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.5(ABCC6):c.450dup (p.Ala151fs) rs387906860
NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs) rs879255646
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_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
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.-97-13dup
NM_001301365.1(LYST):c.-97-9T>G
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.10025G>A (p.Arg3342Gln)
NM_001301365.1(LYST):c.10091A>G (p.Tyr3364Cys)
NM_001301365.1(LYST):c.10127A>G (p.Asn3376Ser)
NM_001301365.1(LYST):c.10174G>A (p.Glu3392Lys)
NM_001301365.1(LYST):c.10235G>A (p.Arg3412His) rs148409403
NM_001301365.1(LYST):c.10341G>A (p.Glu3447=)
NM_001301365.1(LYST):c.10346G>A (p.Arg3449Gln)
NM_001301365.1(LYST):c.10370A>G (p.Tyr3457Cys)
NM_001301365.1(LYST):c.10392A>G (p.Ile3464Met)
NM_001301365.1(LYST):c.10395del (p.Gly3466fs)
NM_001301365.1(LYST):c.10414T>C (p.Tyr3472His)
NM_001301365.1(LYST):c.10444G>A (p.Val3482Met)
NM_001301365.1(LYST):c.10459C>G (p.Gln3487Glu)
NM_001301365.1(LYST):c.10468G>A (p.Gly3490Arg)
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.10669G>T (p.Val3557Leu)
NM_001301365.1(LYST):c.10684A>C (p.Ser3562Arg)
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.10817T>C (p.Met3606Thr)
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.11102G>T (p.Cys3701Phe)
NM_001301365.1(LYST):c.1111C>T (p.Pro371Ser)
NM_001301365.1(LYST):c.11122G>A (p.Val3708Met)
NM_001301365.1(LYST):c.11167G>A (p.Ala3723Thr)
NM_001301365.1(LYST):c.11167G>T (p.Ala3723Ser)
NM_001301365.1(LYST):c.11173G>A (p.Gly3725Arg)
NM_001301365.1(LYST):c.11196-15T>G
NM_001301365.1(LYST):c.11268-17dup
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.11268-6_11268-5del
NM_001301365.1(LYST):c.11278T>C (p.Ser3760Pro)
NM_001301365.1(LYST):c.112C>T (p.His38Tyr)
NM_001301365.1(LYST):c.11354G>A (p.Arg3785His) rs370173269
NM_001301365.1(LYST):c.11401G>C (p.Gly3801Arg)
NM_001301365.1(LYST):c.118dup (p.Ala40fs) rs80338642
NM_001301365.1(LYST):c.1198C>A (p.Leu400Ile)
NM_001301365.1(LYST):c.1251A>G (p.Gln417=) rs1063128
NM_001301365.1(LYST):c.1275C>G (p.Tyr425Ter)
NM_001301365.1(LYST):c.1328A>G (p.Asn443Ser)
NM_001301365.1(LYST):c.1390G>A (p.Glu464Lys)
NM_001301365.1(LYST):c.143A>G (p.His48Arg)
NM_001301365.1(LYST):c.1467del (p.Glu489fs) rs80338644
NM_001301365.1(LYST):c.1478A>G (p.His493Arg)
NM_001301365.1(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_001301365.1(LYST):c.1494A>G (p.Arg498=)
NM_001301365.1(LYST):c.1532A>G (p.His511Arg)
NM_001301365.1(LYST):c.153A>C (p.Gly51=) rs11464
NM_001301365.1(LYST):c.1540C>T (p.Arg514Ter)
NM_001301365.1(LYST):c.1565C>T (p.Ser522Leu)
NM_001301365.1(LYST):c.1610C>T (p.Ala537Val)
NM_001301365.1(LYST):c.1636C>T (p.Arg546Trp)
NM_001301365.1(LYST):c.1655T>C (p.Val552Ala)
NM_001301365.1(LYST):c.1664A>C (p.His555Pro)
NM_001301365.1(LYST):c.1683A>G (p.Leu561=) rs3820553
NM_001301365.1(LYST):c.1697T>G (p.Leu566Trp)
NM_001301365.1(LYST):c.1722A>G (p.Leu574=)
NM_001301365.1(LYST):c.1725G>A (p.Ser575=)
NM_001301365.1(LYST):c.1767A>C (p.Lys589Asn)
NM_001301365.1(LYST):c.1829A>T (p.His610Leu)
NM_001301365.1(LYST):c.1902dup (p.Ala635fs) rs80338646
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.2310T>C (p.Pro770=)
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.2413G>T (p.Glu805Ter)
NM_001301365.1(LYST):c.2413del (p.Glu805fs)
NM_001301365.1(LYST):c.2438G>A (p.Arg813Gln)
NM_001301365.1(LYST):c.2442T>A (p.Ser814Arg)
NM_001301365.1(LYST):c.2443C>T (p.His815Tyr)
NM_001301365.1(LYST):c.244C>T (p.Leu82=)
NM_001301365.1(LYST):c.2454del (p.Ala819fs)
NM_001301365.1(LYST):c.2455G>A (p.Ala819Thr)
NM_001301365.1(LYST):c.2480T>A (p.Leu827Gln)
NM_001301365.1(LYST):c.2517T>C (p.Ile839=)
NM_001301365.1(LYST):c.2623del (p.Tyr875fs) rs80338649
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.2769A>C (p.Ser923=) rs112739986
NM_001301365.1(LYST):c.278C>G (p.Ala93Gly)
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.2828G>A (p.Cys943Tyr)
NM_001301365.1(LYST):c.285T>G (p.Asp95Glu)
NM_001301365.1(LYST):c.2870T>C (p.Met957Thr)
NM_001301365.1(LYST):c.2908A>C (p.Ile970Leu)
NM_001301365.1(LYST):c.2926G>A (p.Val976Met)
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.3014A>G (p.His1005Arg)
NM_001301365.1(LYST):c.3030A>G (p.Gly1010=)
NM_001301365.1(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_001301365.1(LYST):c.3065A>G (p.Gln1022Arg)
NM_001301365.1(LYST):c.3073_3074del (p.Asn1025fs)
NM_001301365.1(LYST):c.3083C>G (p.Ser1028Cys) rs150636017
NM_001301365.1(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_001301365.1(LYST):c.3091A>G (p.Lys1031Glu)
NM_001301365.1(LYST):c.3134G>A (p.Ser1045Asn)
NM_001301365.1(LYST):c.3137A>G (p.Asp1046Gly)
NM_001301365.1(LYST):c.3160A>G (p.Ser1054Gly)
NM_001301365.1(LYST):c.3167A>C (p.Lys1056Thr)
NM_001301365.1(LYST):c.3203A>G (p.Gln1068Arg)
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.3324C>T (p.Ala1108=)
NM_001301365.1(LYST):c.3370A>G (p.Met1124Val)
NM_001301365.1(LYST):c.3394-14T>C rs372892911
NM_001301365.1(LYST):c.3434dup (p.His1145fs)
NM_001301365.1(LYST):c.3499G>A (p.Val1167Ile)
NM_001301365.1(LYST):c.3507C>T (p.Leu1169=)
NM_001301365.1(LYST):c.3536A>G (p.Asn1179Ser)
NM_001301365.1(LYST):c.3573A>C (p.Glu1191Asp)
NM_001301365.1(LYST):c.3613G>A (p.Glu1205Lys)
NM_001301365.1(LYST):c.3616G>C (p.Asp1206His)
NM_001301365.1(LYST):c.3622C>T (p.Gln1208Ter)
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.3746G>A (p.Ser1249Asn)
NM_001301365.1(LYST):c.3757A>C (p.Ser1253Arg)
NM_001301365.1(LYST):c.3775G>A (p.Glu1259Lys)
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.3944dup (p.Val1316fs)
NM_001301365.1(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_001301365.1(LYST):c.4052C>G (p.Ser1351Ter)
NM_001301365.1(LYST):c.4084T>G (p.Leu1362Val)
NM_001301365.1(LYST):c.4108C>G (p.Pro1370Ala)
NM_001301365.1(LYST):c.4135A>G (p.Ile1379Val)
NM_001301365.1(LYST):c.4187C>G (p.Thr1396Ser)
NM_001301365.1(LYST):c.422G>A (p.Arg141Gln)
NM_001301365.1(LYST):c.4274del (p.Leu1425fs)
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln)
NM_001301365.1(LYST):c.4357A>G (p.Ile1453Val)
NM_001301365.1(LYST):c.4361C>A (p.Ala1454Asp)
NM_001301365.1(LYST):c.4377G>A (p.Pro1459=)
NM_001301365.1(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_001301365.1(LYST):c.4416T>C (p.Gly1472=)
NM_001301365.1(LYST):c.446T>C (p.Ile149Thr)
NM_001301365.1(LYST):c.4487A>C (p.Lys1496Thr)
NM_001301365.1(LYST):c.452A>G (p.His151Arg)
NM_001301365.1(LYST):c.4545G>C (p.Glu1515Asp)
NM_001301365.1(LYST):c.4548C>A (p.Ser1516Arg)
NM_001301365.1(LYST):c.4566A>C (p.Ala1522=)
NM_001301365.1(LYST):c.4670A>G (p.Asn1557Ser)
NM_001301365.1(LYST):c.4688+6G>A
NM_001301365.1(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_001301365.1(LYST):c.4705A>C (p.Asn1569His)
NM_001301365.1(LYST):c.476G>A (p.Arg159Lys)
NM_001301365.1(LYST):c.4863-4G>T
NM_001301365.1(LYST):c.4904C>G (p.Thr1635Arg)
NM_001301365.1(LYST):c.4956A>G (p.Leu1652=) rs6696123
NM_001301365.1(LYST):c.5033T>C (p.Val1678Ala)
NM_001301365.1(LYST):c.5061T>A (p.Tyr1687Ter)
NM_001301365.1(LYST):c.5071C>T (p.Pro1691Ser)
NM_001301365.1(LYST):c.5263A>G (p.Ile1755Val)
NM_001301365.1(LYST):c.5291G>A (p.Gly1764Asp)
NM_001301365.1(LYST):c.5291G>C (p.Gly1764Ala) rs35413645
NM_001301365.1(LYST):c.52C>T (p.Arg18Trp)
NM_001301365.1(LYST):c.5317del (p.Arg1773fs)
NM_001301365.1(LYST):c.5373G>A (p.Lys1791=) rs2273584
NM_001301365.1(LYST):c.5506C>T (p.Arg1836Ter)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.5533A>G (p.Asn1845Asp)
NM_001301365.1(LYST):c.5541_5542del (p.Arg1848fs)
NM_001301365.1(LYST):c.5549A>G (p.His1850Arg)
NM_001301365.1(LYST):c.5590G>T (p.Val1864Leu)
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.5719A>G (p.Ile1907Val)
NM_001301365.1(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_001301365.1(LYST):c.5833G>A (p.Ala1945Thr)
NM_001301365.1(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_001301365.1(LYST):c.5883A>G (p.Gln1961=)
NM_001301365.1(LYST):c.5920C>G (p.Gln1974Glu)
NM_001301365.1(LYST):c.5956C>T (p.Arg1986Ter)
NM_001301365.1(LYST):c.5957G>A (p.Arg1986Gln)
NM_001301365.1(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_001301365.1(LYST):c.6078C>A (p.Tyr2026Ter)
NM_001301365.1(LYST):c.6079G>C (p.Val2027Leu)
NM_001301365.1(LYST):c.6122-13del rs201404906
NM_001301365.1(LYST):c.6149G>A (p.Arg2050Gln)
NM_001301365.1(LYST):c.6185G>A (p.Gly2062Glu)
NM_001301365.1(LYST):c.6188G>A (p.Arg2063Lys)
NM_001301365.1(LYST):c.6238G>C (p.Ala2080Pro)
NM_001301365.1(LYST):c.6266C>G (p.Ser2089Cys)
NM_001301365.1(LYST):c.6279A>G (p.Pro2093=)
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.646C>T (p.Pro216Ser)
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.6656G>A (p.Gly2219Glu)
NM_001301365.1(LYST):c.6673C>T (p.Arg2225Cys)
NM_001301365.1(LYST):c.6682G>C (p.Asp2228His)
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.6775G>A (p.Val2259Ile)
NM_001301365.1(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_001301365.1(LYST):c.6833A>G (p.Tyr2278Cys)
NM_001301365.1(LYST):c.6863G>A (p.Arg2288Gln)
NM_001301365.1(LYST):c.6898T>G (p.Leu2300Val)
NM_001301365.1(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_001301365.1(LYST):c.7059+7G>A rs111764031
NM_001301365.1(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_001301365.1(LYST):c.7181A>G (p.Glu2394Gly)
NM_001301365.1(LYST):c.71T>C (p.Val24Ala)
NM_001301365.1(LYST):c.7228G>A (p.Glu2410Lys)
NM_001301365.1(LYST):c.7258G>A (p.Gly2420Arg)
NM_001301365.1(LYST):c.7322A>C (p.Asn2441Thr)
NM_001301365.1(LYST):c.7340C>T (p.Ala2447Val)
NM_001301365.1(LYST):c.7350_7352TCT[1] (p.Leu2452del)
NM_001301365.1(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_001301365.1(LYST):c.7370C>A (p.Ser2457Tyr)
NM_001301365.1(LYST):c.7385C>A (p.Ala2462Glu)
NM_001301365.1(LYST):c.7430C>T (p.Thr2477Ile)
NM_001301365.1(LYST):c.7439C>A (p.Ala2480Asp)
NM_001301365.1(LYST):c.7457A>G (p.Lys2486Arg)
NM_001301365.1(LYST):c.748A>G (p.Met250Val)
NM_001301365.1(LYST):c.7506A>C (p.Gln2502His)
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.7555del (p.Tyr2519fs)
NM_001301365.1(LYST):c.7576C>T (p.Leu2526Phe)
NM_001301365.1(LYST):c.7627+6A>T
NM_001301365.1(LYST):c.7647G>A (p.Gln2549=)
NM_001301365.1(LYST):c.772T>C (p.Cys258Arg)
NM_001301365.1(LYST):c.7766G>A (p.Arg2589Gln)
NM_001301365.1(LYST):c.777T>C (p.His259=)
NM_001301365.1(LYST):c.7784C>T (p.Pro2595Leu)
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.7920G>A (p.Ala2640=)
NM_001301365.1(LYST):c.7957A>G (p.Arg2653Gly)
NM_001301365.1(LYST):c.7982C>G (p.Ser2661Ter)
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.8281A>T (p.Arg2761Ter)
NM_001301365.1(LYST):c.8328A>G (p.Ile2776Met)
NM_001301365.1(LYST):c.8336A>G (p.Asp2779Gly)
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.8426A>G (p.Glu2809Gly)
NM_001301365.1(LYST):c.8428G>A (p.Glu2810Lys)
NM_001301365.1(LYST):c.8438C>A (p.Thr2813Lys)
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=)
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.8571T>G (p.Asn2857Lys)
NM_001301365.1(LYST):c.8572A>C (p.Lys2858Gln)
NM_001301365.1(LYST):c.8583G>A (p.Trp2861Ter)
NM_001301365.1(LYST):c.8607A>G (p.Gln2869=)
NM_001301365.1(LYST):c.8624G>A (p.Arg2875His)
NM_001301365.1(LYST):c.8629G>A (p.Asp2877Asn)
NM_001301365.1(LYST):c.8657T>C (p.Ile2886Thr)
NM_001301365.1(LYST):c.8742A>G (p.Lys2914=)
NM_001301365.1(LYST):c.8801+15G>C
NM_001301365.1(LYST):c.8802-2A>G
NM_001301365.1(LYST):c.8806G>A (p.Val2936Ile) rs2753327
NM_001301365.1(LYST):c.8818C>A (p.Pro2940Thr)
NM_001301365.1(LYST):c.8913T>G (p.Asn2971Lys)
NM_001301365.1(LYST):c.8960C>G (p.Pro2987Arg)
NM_001301365.1(LYST):c.8980G>A (p.Glu2994Lys)
NM_001301365.1(LYST):c.9017A>G (p.Lys3006Arg) rs140934482
NM_001301365.1(LYST):c.901A>G (p.Ser301Gly)
NM_001301365.1(LYST):c.9045-13T>C
NM_001301365.1(LYST):c.9053G>A (p.Arg3018Gln)
NM_001301365.1(LYST):c.9162+11G>A
NM_001301365.1(LYST):c.916T>G (p.Leu306Val)
NM_001301365.1(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)
NM_001301365.1(LYST):c.925C>T (p.Arg309Ter)
NM_001301365.1(LYST):c.9327T>A (p.Asp3109Glu)
NM_001301365.1(LYST):c.9332A>G (p.Tyr3111Cys)
NM_001301365.1(LYST):c.9347C>A (p.Thr3116Lys)
NM_001301365.1(LYST):c.9415C>A (p.Gln3139Lys)
NM_001301365.1(LYST):c.9473A>G (p.Asn3158Ser)
NM_001301365.1(LYST):c.9517T>C (p.Tyr3173His)
NM_001301365.1(LYST):c.9520G>A (p.Val3174Ile) rs199672291
NM_001301365.1(LYST):c.9529A>C (p.Thr3177Pro)
NM_001301365.1(LYST):c.9542A>G (p.Asn3181Ser)
NM_001301365.1(LYST):c.9552G>T (p.Leu3184Phe) rs556200563
NM_001301365.1(LYST):c.957G>A (p.Pro319=)
NM_001301365.1(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_001301365.1(LYST):c.9646C>T (p.Arg3216Cys)
NM_001301365.1(LYST):c.9653_9654delinsTT (p.Gly3218Val)
NM_001301365.1(LYST):c.9742G>A (p.Val3248Ile)
NM_001301365.1(LYST):c.9811A>T (p.Thr3271Ser)
NM_001301365.1(LYST):c.9823A>G (p.Thr3275Ala)
NM_001301365.1(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_001301365.1(LYST):c.9839G>A (p.Arg3280Gln)
NM_001301365.1(LYST):c.9893del (p.Phe3298fs)
NM_001301365.1(LYST):c.9896A>G (p.Tyr3299Cys)
NM_001301365.1(LYST):c.9919C>T (p.Arg3307Cys)
NM_001301365.1(LYST):c.9920G>A (p.Arg3307His)
NM_001301365.1(LYST):c.9943C>T (p.Arg3315Cys)
NM_001301365.1(LYST):c.9969C>T (p.His3323=)
NM_001301365.1(LYST):c.9C>T (p.Thr3=) rs33998267
NM_001305581.2(LRMDA):c.150dup (p.Ala51fs) rs587776953
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808
NM_001305581.2(LRMDA):c.351C>A (p.Asn117Lys) rs878854351
NM_001305581.2(LRMDA):c.664C>T (p.Arg222Ter) rs587776952
NM_002386.3(MC1R):c.104G>A (p.Cys35Tyr) rs779504604
NM_002386.3(MC1R):c.112G>A (p.Val38Met) rs200050206
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002386.3(MC1R):c.332C>T (p.Ala111Val) rs201489928
NM_002386.3(MC1R):c.512C>G (p.Ala171Gly) rs373224783
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.517_519GTC[1] (p.Val174del) rs747777879
NM_002386.3(MC1R):c.583T>G (p.Phe195Val) rs377580634
NM_002386.3(MC1R):c.766C>T (p.Pro256Ser) rs200215218
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_002386.3(MC1R):c.894C>G (p.Tyr298Ter) rs143395134
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.1022G>A (p.Arg341His) rs141832130
NM_003664.4(AP3B1):c.1038T>C (p.Asn346=) rs4532349
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.1159A>G (p.Thr387Ala) rs762030946
NM_003664.4(AP3B1):c.1168-9C>T rs367648410
NM_003664.4(AP3B1):c.1168_1230del63 (p.Leu390_Gln410del) rs1554072100
NM_003664.4(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589
NM_003664.4(AP3B1):c.1193A>G (p.Asn398Ser)
NM_003664.4(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996
NM_003664.4(AP3B1):c.1292G>A (p.Cys431Tyr) rs751127592
NM_003664.4(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.4(AP3B1):c.1325G>A (p.Cys442Tyr)
NM_003664.4(AP3B1):c.1363G>A (p.Glu455Lys)
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.1412T>A (p.Met471Lys) rs771964089
NM_003664.4(AP3B1):c.1421C>T (p.Ala474Val)
NM_003664.4(AP3B1):c.1474-7072_1650+921del
NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) rs121908906
NM_003664.4(AP3B1):c.1675T>A (p.Leu559Ile)
NM_003664.4(AP3B1):c.1679A>G (p.Asn560Ser) rs776064198
NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.4(AP3B1):c.1718G>A (p.Arg573His) rs1229904606
NM_003664.4(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572
NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) rs121908904
NM_003664.4(AP3B1):c.1747C>G (p.Pro583Ala)
NM_003664.4(AP3B1):c.1748C>T (p.Pro583Leu) rs148023800
NM_003664.4(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.4(AP3B1):c.1754del (p.Val585fs) rs869312836
NM_003664.4(AP3B1):c.176A>G (p.Lys59Arg)
NM_003664.4(AP3B1):c.177del (p.Lys59fs) rs869312838
NM_003664.4(AP3B1):c.1839_1842delTAGA rs869312839
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1868C>T (p.Ser623Phe)
NM_003664.4(AP3B1):c.1969-10G>A rs77009095
NM_003664.4(AP3B1):c.196A>G (p.Ile66Val) rs779404585
NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) rs121908907
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.2016T>C (p.Ala672=) rs42360
NM_003664.4(AP3B1):c.2018A>G (p.Lys673Arg) rs763619135
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.2239A>G (p.Lys747Glu)
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.2527A>G (p.Met843Val)
NM_003664.4(AP3B1):c.2548C>A (p.His850Asn)
NM_003664.4(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.4(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.4(AP3B1):c.2673G>C (p.Gln891His) rs770455413
NM_003664.4(AP3B1):c.2702C>G (p.Ser901Cys) rs869312835
NM_003664.4(AP3B1):c.2709A>G (p.Gln903=)
NM_003664.4(AP3B1):c.2762A>G (p.Glu921Gly) rs753810749
NM_003664.4(AP3B1):c.2765A>G (p.Lys922Arg) rs1554059568
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.2779G>A (p.Gly927Ser) rs746205404
NM_003664.4(AP3B1):c.279+6G>A rs1269853831
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.2880C>T (p.Ala960=) rs62001052
NM_003664.4(AP3B1):c.2890T>C (p.Leu964=) rs750377910
NM_003664.4(AP3B1):c.2900A>G (p.Lys967Arg)
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.2932C>T (p.Pro978Ser)
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.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.388C>T (p.Leu130=) rs138774723
NM_003664.4(AP3B1):c.38G>C (p.Gly13Ala)
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.687A>G (p.Leu229=) rs35496909
NM_003664.4(AP3B1):c.716G>A (p.Trp239Ter) rs869312837
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.823G>A (p.Glu275Lys)
NM_003664.4(AP3B1):c.869C>T (p.Pro290Leu) rs759296897
NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) rs121908905
NM_003664.4(AP3B1):c.929G>C (p.Ser310Thr)
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_003664.4(AP3B1):c.976A>G (p.Ile326Val) rs758789954
NM_003664.4(AP3B1):c.97G>T (p.Ala33Ser)
NM_006177.5(NRL):c.448_466dup (p.Glu156fs) rs1555339028
NM_007216.4(HPS5):c.*1003_*1004del rs886048070
NM_007216.4(HPS5):c.-58-10A>G rs200449378
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1558del (p.Glu520fs) rs1131692146
NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.1879_1881ACA[1] (p.Thr628del) rs886048077
NM_007216.4(HPS5):c.201del (p.Gln67fs)
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) rs1131692151
NM_007216.4(HPS5):c.2495+15del rs886048076
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) rs753928208
NM_007216.4(HPS5):c.476_480del (p.Thr159fs) rs1131692147
NM_007216.4(HPS5):c.483-14del rs886048082
NM_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
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.131T>C (p.Ile44Thr)
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly)
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu)
NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) rs201348482
NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr)
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu)
NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter)
NM_012388.3(BLOC1S6):c.432A>G (p.Gln144=) rs886051205
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser)
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)
NM_012388.4(BLOC1S6):c.319_320delinsAT (p.Glu107Met)
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_016180.4(SLC45A2):c.[1454T>C];[264delC]
NM_016180.5(SLC45A2):c.1032+9C>T rs113928135
NM_016180.5(SLC45A2):c.1074_1075AG[1] (p.Glu359fs) rs753485165
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619
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.1121del (p.Leu374fs) rs730880271
NM_016180.5(SLC45A2):c.1156+7C>T rs767910207
NM_016180.5(SLC45A2):c.1157-10C>T rs371152353
NM_016180.5(SLC45A2):c.1273del (p.Leu425fs) rs759411189
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704
NM_016180.5(SLC45A2):c.1351C>T (p.Arg451Cys) rs142175557
NM_016180.5(SLC45A2):c.1368+1G>T rs1294369944
NM_016180.5(SLC45A2):c.1457C>T (p.Ala486Val) rs121912620
NM_016180.5(SLC45A2):c.149C>A (p.Ala50Glu)
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789
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.163dup (p.Tyr55fs) rs1057518722
NM_016180.5(SLC45A2):c.187G>T (p.Val63Leu)
NM_016180.5(SLC45A2):c.191G>T (p.Gly64Val)
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter) rs562624441
NM_016180.5(SLC45A2):c.232C>A (p.Pro78Thr) rs886060520
NM_016180.5(SLC45A2):c.372T>A (p.Ala124=) rs886060519
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn) rs121912621
NM_016180.5(SLC45A2):c.563-1G>A rs730880270
NM_016180.5(SLC45A2):c.578T>G (p.Leu193Arg) rs797045970
NM_016180.5(SLC45A2):c.627A>G (p.Arg209=) rs755956613
NM_016180.5(SLC45A2):c.656_658TCT[2] (p.Phe221del) rs387906318
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722
NM_016180.5(SLC45A2):c.986del (p.Thr329fs) rs387906317
NM_022081.5(HPS4):c.*1024_*1028del rs886057313
NM_022081.5(HPS4):c.*1120C>T rs886057312
NM_022081.5(HPS4):c.*1207_*1227delinsC rs886057310
NM_022081.5(HPS4):c.*1207_*1227delinsCGC rs886057310
NM_022081.5(HPS4):c.*1223_*1238del rs886057303
NM_022081.5(HPS4):c.*1225T>C rs886057311
NM_022081.5(HPS4):c.*1227T>C rs7293228
NM_022081.5(HPS4):c.*1227_*1236del rs755364858
NM_022081.5(HPS4):c.*1229C>T rs6147576
NM_022081.5(HPS4):c.*1229_*1237delinsTGT rs886057304
NM_022081.5(HPS4):c.*1229_*1237delinsTGTGT rs886057304
NM_022081.5(HPS4):c.*1231C>T rs56271395
NM_022081.5(HPS4):c.*1236_*1237insTAA rs1555885488
NM_022081.5(HPS4):c.*1237C>T rs886057305
NM_022081.5(HPS4):c.*1250C>T rs7291576
NM_022081.5(HPS4):c.*1253G>A rs534586940
NM_022081.5(HPS4):c.*1256C>T rs886057299
NM_022081.5(HPS4):c.*1359A>T rs886057298
NM_022081.5(HPS4):c.*1576C>T rs886057297
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.*1594G>C rs886057296
NM_022081.5(HPS4):c.*1613C>A rs3752589
NM_022081.5(HPS4):c.*1687A>G rs3752588
NM_022081.5(HPS4):c.*1752C>G rs886057295
NM_022081.5(HPS4):c.*1762G>A rs139974836
NM_022081.5(HPS4):c.*197G>T rs550753111
NM_022081.5(HPS4):c.*369C>T rs886057316
NM_022081.5(HPS4):c.*391G>A rs886057315
NM_022081.5(HPS4):c.*515G>C rs886057314
NM_022081.5(HPS4):c.*751G>A rs190837977
NM_022081.5(HPS4):c.-116C>T rs886057321
NM_022081.5(HPS4):c.-185A>G rs188205202
NM_022081.5(HPS4):c.-253C>T rs3747134
NM_022081.5(HPS4):c.-296T>C rs5761557
NM_022081.5(HPS4):c.-395A>C rs147631281
NM_022081.5(HPS4):c.-42A>G rs369803062
NM_022081.5(HPS4):c.-479+5G>A rs886057322
NM_022081.5(HPS4):c.-523G>T rs886057323
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_022081.5(HPS4):c.-554C>T rs115916720
NM_022081.5(HPS4):c.-585T>G rs187762406
NM_022081.5(HPS4):c.-622G>C rs886057324
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.5(HPS4):c.-660C>T rs34019374
NM_022081.5(HPS4):c.-661G>T rs753668169
NM_022081.5(HPS4):c.-662G>T rs968425
NM_022081.5(HPS4):c.15C>T (p.Thr5=) rs144622501
NM_022081.5(HPS4):c.276+5G>A
NM_022081.5(HPS4):c.706+15G>T rs762647750
NM_024101.7(MLPH):c.103C>T (p.Arg35Trp) rs119473031
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter)
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.1065dup (p.Leu356fs) rs1564899492
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.1234C>T (p.Gln412Ter) rs281865112
NM_024747.5(HPS6):c.138G>A (p.Leu46=) rs886046648
NM_024747.5(HPS6):c.1498G>A (p.Gly500Arg)
NM_024747.5(HPS6):c.155del (p.Val52fs)
NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) rs757589760
NM_024747.5(HPS6):c.1624del (p.Asp542fs)
NM_024747.5(HPS6):c.1649del (p.Gly550fs)
NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) rs1554903728
NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) rs281865113
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.1865_1866del (p.Leu622fs) rs281865114
NM_024747.5(HPS6):c.1898del (p.Pro633fs) rs1131692332
NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) rs886046649
NM_024747.5(HPS6):c.19_20delCT
NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) rs1131692333
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.223C>T (p.Gln75Ter) rs281865107
NM_024747.5(HPS6):c.2307G>A (p.Pro769=) rs553794194
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
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.516G>A (p.Gly172=) rs3737243
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.706_707delTC
NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) rs767667481
NM_024747.5(HPS6):c.779G>A (p.Gly260Glu)
NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) rs281865110
NM_024747.5(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_024747.6(HPS6):c.1A>G (p.Met1Val)
NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)
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.814C>T (p.Pro272Ser) rs17470454
NM_032122.4(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
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.*170C>T rs182666670
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.*239G>A rs886058083
NM_032383.5(HPS3):c.*920T>C rs561191589
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.-43C>A rs375227018
NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.0_217+692del
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.1163+1G>A rs201227603
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316
NM_032383.5(HPS3):c.1196G>T (p.Ser399Ile) rs886058078
NM_032383.5(HPS3):c.1208C>T (p.Ala403Val) rs773950483
NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)
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.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)
NM_032383.5(HPS3):c.1691+2T>G rs281865093
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.1798C>T (p.Gln600Ter)
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
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.2463dup (p.Arg822fs)
NM_032383.5(HPS3):c.2482-2A>G rs397507168
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2589+1G>C rs281865095
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.2737_2738GA[1] (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.2888-1612G>A rs281865096
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.716T>G (p.Ile239Ser) rs886058075
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.89_114del (p.Arg30fs) rs1553750083
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908
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.*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.1045T>A (p.Ser349Thr) rs114685298
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_152841.2(HPS4):c.1046C>G (p.Ser349Cys) rs116769827
NM_152841.2(HPS4):c.1117C>T (p.Gln373Ter) rs369053765
NM_152841.2(HPS4):c.1177A>C (p.Arg393=) rs375655372
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.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.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.1801C>T (p.His601Tyr) rs1894706
NM_152841.2(HPS4):c.1842G>A (p.Pro614=) rs373421312
NM_152841.2(HPS4):c.1851del (p.Thr618fs) rs281865099
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.1876C>T (p.Gln626Ter) rs119471021
NM_152841.2(HPS4):c.1884C>T (p.Val628=) rs35993959
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.2069_2073AAGCA[3] (p.Lys694fs) rs281865100
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.397G>T (p.Glu133Ter) rs119471024
NM_152841.2(HPS4):c.42del (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.42dup (p.Leu15fs) rs281865097
NM_152841.2(HPS4):c.446A>G (p.His149Arg) rs281865098
NM_152841.2(HPS4):c.526C>T (p.Gln176Ter) rs119471022
NM_152841.2(HPS4):c.543G>A (p.Ser181=) rs13054747
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.634C>T (p.Arg212Ter) rs119471023
NM_152841.2(HPS4):c.649G>T (p.Glu217Ter) rs119471025
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.695C>T (p.Ala232Val) rs77597168
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.862C>G (p.Leu288Val) rs886057317
NM_152841.2(HPS4):c.907A>G (p.Thr303Ala) rs150057646
NM_152841.2(HPS4):c.916C>A (p.Pro306Thr) rs140732502
NM_152841.2(HPS4):c.934_957dup (p.Ala312_Glu319dup) rs281865164
NM_152841.2(HPS4):c.943G>C (p.Asp315His) rs143965829
NM_181458.4(PAX3):c.748dup (p.Glu250fs)
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.107del (p.Lys36fs) rs1554948134
NM_181507.1(HPS5):c.1123C>G (p.Arg375Gly) rs761598432
NM_181507.1(HPS5):c.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
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.1501G>A (p.Gly501Arg) rs143784823
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.1635-4C>G rs79009787
NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) rs774361456
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.1785-9C>A rs886048079
NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) rs190221223
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
NM_181507.1(HPS5):c.1900G>A (p.Glu634Lys) rs143204089
NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter)
NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) rs886048078
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2200C>T (p.Arg734Trp) rs752089199
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.2247A>G (p.Val749=) rs139004989
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
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.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.2562-14G>C rs199999276
NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.260A>T (p.Asp87Val) rs886048083
NM_181507.1(HPS5):c.2718-12A>G
NM_181507.1(HPS5):c.2838-13T>C rs377293025
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.3058+9A>G rs2049129
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.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) rs139039126
NM_181507.1(HPS5):c.345G>A (p.Met115Ile) rs149229493
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.1(HPS5):c.822C>A (p.Leu274=) rs1140047
NM_181507.1(HPS5):c.986-5C>T rs201439984
NM_181507.2(HPS5):c.46G>C (p.Ala16Pro)
NM_183040.2(DTNBP1):c.-109G>A rs559661829
NM_183040.2(DTNBP1):c.-142G>A rs530331862
NM_183040.2(DTNBP1):c.-159G>A rs886061227
NM_183040.2(DTNBP1):c.-18A>G rs11558324
NM_183040.2(DTNBP1):c.177G>A (p.Trp59Ter) rs727502866
NM_183040.2(DTNBP1):c.255G>T (p.Ala85=) rs200096549
NM_183040.2(DTNBP1):c.276A>G (p.Thr92=) rs148092520
NM_183040.2(DTNBP1):c.307C>T (p.Gln103Ter) rs104893945
NM_183040.2(DTNBP1):c.355+10A>G rs368923800
NM_183040.2(DTNBP1):c.356-7C>T rs3829893
NM_183040.2(DTNBP1):c.438A>G (p.Arg146=) rs369015562
NM_183040.2(DTNBP1):c.487A>C (p.Arg163=) rs146546977
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.532G>T (p.Ala178Ser) rs75704383
NM_183040.2(DTNBP1):c.667+2C>T rs61739410
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_183040.2(DTNBP1):c.741G>A (p.Ser247=) rs886061224
NM_183235.2(RAB27A):c.*2554C>T rs28564077
NM_183235.3(RAB27A):c.*1156T>G rs747438491
NM_183235.3(RAB27A):c.*1170T>G rs574506558
NM_183235.3(RAB27A):c.*121A>G rs886051316
NM_183235.3(RAB27A):c.*1296T>G rs560689599
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.*14C>T rs1050931
NM_183235.3(RAB27A):c.*1594A>G rs1061821
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.*1672T>C rs886051306
NM_183235.3(RAB27A):c.*1678T>A rs540548388
NM_183235.3(RAB27A):c.*1742A>G rs1061824
NM_183235.3(RAB27A):c.*1863C>T rs566144766
NM_183235.3(RAB27A):c.*1878T>C rs552625680
NM_183235.3(RAB27A):c.*1915_*1920delinsTAAATAAAT rs886051305
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.*2067C>G rs7168226
NM_183235.3(RAB27A):c.*2241_*2247del rs565165091
NM_183235.3(RAB27A):c.*2334C>A rs886051304
NM_183235.3(RAB27A):c.*2349A>G rs76970799
NM_183235.3(RAB27A):c.*387A>G rs73407873
NM_183235.3(RAB27A):c.*388G>C rs886051314
NM_183235.3(RAB27A):c.*425G>A rs886051313
NM_183235.3(RAB27A):c.*561A>T rs886051312
NM_183235.3(RAB27A):c.*723C>T rs886051311
NM_183235.3(RAB27A):c.*730T>C rs886051310
NM_183235.3(RAB27A):c.*731G>T rs76097718
NM_183235.3(RAB27A):c.*842G>A rs59982153
NM_183235.3(RAB27A):c.*852C>T rs3179664
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.-142-46A>G rs8031271
NM_183235.3(RAB27A):c.-142-5A>G rs61436564
NM_183235.3(RAB27A):c.-58A>G rs572723752
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
NM_183235.3(RAB27A):c.149del (p.Arg50fs) rs770601673
NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn) rs540520068
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys) rs145253993
NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer) rs1555394745
NM_183235.3(RAB27A):c.195C>G (p.Gly65=) rs897453247
NM_183235.3(RAB27A):c.213G>T (p.Gln71His) rs776920896
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly) rs28938176
NM_183235.3(RAB27A):c.239+3A>G
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr) rs141281020
NM_183235.3(RAB27A):c.343+3_343+6del rs886051317
NM_183235.3(RAB27A):c.343+6del rs1277146219
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter) rs104894500
NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe) rs1259290779
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro) rs104894498
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407
NM_183235.3(RAB27A):c.419_420AG[2] (p.Arg141fs)
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro) rs104894499
NM_183235.3(RAB27A):c.467+1G>C rs756071120
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs) rs767481076
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)
NM_183235.3(RAB27A):c.51_52CT[1] (p.Ser18fs)
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu) rs757760608
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter) rs200956636
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln) rs141362723
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met) rs151048993
NM_183235.3(RAB27A):c.621G>A (p.Thr207=) rs764546558
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)
NM_205850.3(SLC24A5):c.1078+1G>A
NM_205850.3(SLC24A5):c.331= (p.Thr111=) rs1426654
NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter)
NM_205850.3(SLC24A5):c.571_572insTAAT (p.Tyr191fs) rs886037642
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.131C>A (p.Ser44Ter) rs281865115
NM_212550.4(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
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.270G>A (p.Ala90=) rs758506
NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) rs886054490
NM_212550.4(BLOC1S3):c.339G>A (p.Leu113=) rs546645333
NM_212550.4(BLOC1S3):c.366C>T (p.His122=) rs571269735
NM_212550.4(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup)
NM_212550.4(BLOC1S3):c.448del (p.Gln150fs) rs281865116
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
RAB27A, 550C-T
RAB27A, 67.5-KB DEL
RAB27A, IVS5, G-C, +1
Single allele
nsv1067844
nsv1197574

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