ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8189
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HGVS dbSNP
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
AFF2, 121- to 145-KB DEL
AJ298105.1:g.61273_107768delins6086
ARX, 32-BP DEL, NT420
ARX, EX1-2DEL
ATP7A, EX3-4 DEL
ATRX, IVSAS, T-A, -10
BCOR, 60-KB DEL
BCOR, EX9-15DEL
CDKL5, 1-BP DEL, 183T
CDKL5, 2-BP DEL, 2636CT
CDKL5, 4-BP DEL, 166GAAA
CDKL5, IVS6AS, G-T, -1
CDKL5, IVSAS13, G-A, -1
DCX, IVS4, G-A, +1
DLAT, 3-BP DEL, 361GAA
EFNB1, EX2-5DEL
FMR1, (CGG)n REPEAT EXPANSION
FOXG1, 1-BP DEL, 969C
FOXG1, 1-BP DUP, 460G
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
GRCh37/hg19 Xq28(chrX:147642893-147870805)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
GRIA3, 0.4-MB DEL
HCCS, 8.6-KB DEL
HPRT CHERMSIDE
HPRT CHICAGO
HPRT CONNERSVILLE
HPRT COORPAROO
HPRT MICHIGAN
HPRT, 1-BP DEL, TTA-TA
HPRT, 1-BP DEL, TTG-TG
HPRT, 13-BP DEL, 5-PRIME UTR
HPRT, 2-BP DEL, GT
HPRT, 40-BP DEL
HPRT, DEL
HPRT, EX2-3DUP, IVS1DEL
HPRT, EX2DEL
HPRT, EX4-9DEL
HPRT, EX9DEL
HPRT, INV/DEL, EX6-9
HPRT,1-BP INS, 207G
IGBP1, -57delT and -55T-A, 5-PRIME UTR
L1CAM, 1.3-KB DUP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
LAS1L, ALA269GLY
LAS1L, ARG415TRP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
NC_000002.12:g.206159485A>C
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000003.12:g.58433858A>G rs373907802
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000006.11:g.146735206_147036914del301709
NC_000007.14:g.(?_107901728)_(107906378_?)del
NC_000011.10:g.126269056C>A
NC_000011.10:g.67606846G>T
NC_000011.10:g.67606931T>C
NC_000011.9:g.(?_111896177)_(111922093_?)del
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NC_000014.9:g.(31394019_31414809)_(31654321_31655889)del
NC_000014.9:g.(?_28767260)_(28768769_?)del
NC_000019.10:g.5903990A>G
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_128674397)_(128975941_?)dup
NC_000023.10:g.(?_128946967)_(128948896_?)del
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.10:g.(?_152954010)_(153141311_?)dup
NC_000023.10:g.(?_152954020)_(154096327_?)del
NC_000023.10:g.(?_152959340)_(153009209_?)del
NC_000023.10:g.(?_152990712)_(153009199_?)dup
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153599633_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153609567_?)dup
NC_000023.10:g.(?_153577207)_(153642537_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_17393861)_(17653740_?)del
NC_000023.10:g.(?_17393861)_(17753592_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)del
NC_000023.10:g.(?_17393861)_(18671684_?)dup
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18660114)_(19377781_?)del
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_30326313)_(41000684_?)del
NC_000023.10:g.(?_39911342)_(41782261_?)dup
NC_000023.10:g.(?_47432243)_(47479147_?)dup
NC_000023.10:g.(?_47464357)_(47479147_?)dup
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.10:g.(?_76763809)_(76972740_?)dup
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.10:g.(?_77041448)_(77041507_?)dup
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_99551255)_(99905882_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)del
NC_000023.10:g.(?_99551255)_(99926004_?)dup
NC_000023.10:g.146993570GGC[(200_?)]
NC_000023.10:g.146993570GGC[(45_54)]
NC_000023.10:g.146993570GGC[(55_200)]
NC_000023.10:g.146993570GGC[(?_45)]
NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG]
NC_000023.10:g.153296228_153298081del
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.(?_100296257)_(100296895_?)del
NC_000023.11:g.(?_100296257)_(100342095_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)del
NC_000023.11:g.(?_100296257)_(100408617_?)dup
NC_000023.11:g.(?_100402504)_(100402871_?)del
NC_000023.11:g.(?_100402504)_(100408617_?)del
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_100646303)_(100671007_?)dup
NC_000023.11:g.(?_101346475)_(101348757_?)del
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_126549383)_(129592556_?)del
NC_000023.11:g.(?_134460292)_(134460385_?)del
NC_000023.11:g.(?_134460292)_(134500097_?)del
NC_000023.11:g.(?_134473339)_(134500097_?)del
NC_000023.11:g.(?_134500010)_(134500097_?)del
NC_000023.11:g.(?_135985483)_(136024503_?)dup
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NC_000023.11:g.(?_149478764)_(149505354_?)del
NC_000023.11:g.(?_153688555)_(153688856_?)del
NC_000023.11:g.(?_153736092)_(153743755_?)del
NC_000023.11:g.(?_153736102)_(153743735_?)del
NC_000023.11:g.(?_153736102)_(153743745_?)del
NC_000023.11:g.(?_153740082)_(153740247_?)del
NC_000023.11:g.(?_153742977)_(153743745_?)del
NC_000023.11:g.(?_153743201)_(153743755_?)del
NC_000023.11:g.(?_17687722)_(17692488_?)dup
NC_000023.11:g.(?_17692315)_(17692488_?)del
NC_000023.11:g.(?_18506933)_(18510874_?)del
NC_000023.11:g.(?_18506933)_(18604888_?)del
NC_000023.11:g.(?_18506933)_(18653564_?)del
NC_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18595328)_(18595448_?)del
NC_000023.11:g.(?_18628351)_(18628607_?)del
NC_000023.11:g.(?_18653412)_(18653564_?)del
NC_000023.11:g.(?_20155378)_(20176518_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)dup
NC_000023.11:g.(?_38367271)_(38367449_?)del
NC_000023.11:g.(?_38381322)_(38413090_?)del
NC_000023.11:g.(?_38401255)_(38401693_?)del
NC_000023.11:g.(?_40051246)_(40075180_?)del
NC_000023.11:g.(?_40052089)_(40077949_?)del
NC_000023.11:g.(?_40052108)_(40077930_?)del
NC_000023.11:g.(?_40057155)_(40077969_?)del
NC_000023.11:g.(?_40070953)_(40077949_?)dup
NC_000023.11:g.(?_40581046)_(40605775_?)dup
NC_000023.11:g.(?_47572844)_(47605399_?)del
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NC_000023.11:g.110250890_110665082del
NC_000023.11:g.153694343del rs1603217468
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT
NC_000023.11:g.38369877del
NC_000023.9:g.146703942_146820448del
NDP, 1-BP DEL
NEXMIF, 70-KB DUP
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_008960.1:g.224486-?_245539+?del
NG_013224.2:g.(?_4960)_(103567_105489)dup
NG_013368.1:g.5604_20276del
NG_016754.1:g.5000-?_5105+?del
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*12C>T
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*287G>A
NM_000033.4(ABCD1):c.*334C>G
NM_000033.4(ABCD1):c.*360C>T
NM_000033.4(ABCD1):c.*409C>G
NM_000033.4(ABCD1):c.*412T>C rs1057515815
NM_000033.4(ABCD1):c.*450T>A
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*476A>G
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*530G>A rs67211405
NM_000033.4(ABCD1):c.*548_*554GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*621C>T
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.*767C>T
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T
NM_000033.4(ABCD1):c.*805G>C
NM_000033.4(ABCD1):c.*825C>T
NM_000033.4(ABCD1):c.*830A>G
NM_000033.4(ABCD1):c.*831G>T
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.*901G>A
NM_000033.4(ABCD1):c.*903G>A rs78155328
NM_000033.4(ABCD1):c.*911G>A
NM_000033.4(ABCD1):c.*948C>T
NM_000033.4(ABCD1):c.*969A>G
NM_000033.4(ABCD1):c.*980T>C
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-10C>T rs782754717
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser)
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1081+1G>A
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs) rs1603234451
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) rs782266592
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) rs1603234474
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp) rs727503786
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln) rs128624219
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter) rs1603234501
NM_000033.4(ABCD1):c.1225-7_1239del rs1569541009
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) rs782161850
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) rs1603234759
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1488+1G>A
NM_000033.4(ABCD1):c.1489-1G>A rs1603235263
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr) rs1557054745
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser) rs1569541088
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly) rs128624224
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp) rs128624224
NM_000033.4(ABCD1):c.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln) rs398123102
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe) rs1159943880
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1635-1G>A rs1603235389
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
NM_000033.4(ABCD1):c.1742_1781-968del
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) rs782026057
NM_000033.4(ABCD1):c.1743_1745CGT[1] (p.Val583del) rs1557054859
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln) rs1557054873
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1780+4G>A rs193922095
NM_000033.4(ABCD1):c.1781-7C>T rs79915675
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter) rs1603235901
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys) rs150346282
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His) rs11146842
NM_000033.4(ABCD1):c.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup)
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile) rs1557055398
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) rs1557055415
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) rs782583464
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) rs1603236153
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22C>A (p.Arg8=)
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup) rs1603231784
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.253dup (p.Arg85fs) rs713993050
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) rs1557052298
NM_000033.4(ABCD1):c.311G>A (p.Arg104His) rs1557052302
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg) rs398123110
NM_000033.4(ABCD1):c.36del (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.408del (p.Gln136fs) rs1603231897
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
NM_000033.4(ABCD1):c.412_414CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys) rs1569540693
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys) rs1557052390
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) rs1603232005
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) rs1603232050
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) rs1557052459
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.723del (p.Trp242fs) rs1603232111
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) rs1603232171
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) rs782336092
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg) rs128624218
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
NM_000033.4(ABCD1):c.900+7C>T
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000033.4(ABCD1):c.901-5C>T rs782603062
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter) rs1603233089
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del) rs1603233113
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
NM_000052.7(ATP7A):c.-21-2239C>T rs62621209
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter) rs797045325
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs) rs797045327
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
NM_000052.7(ATP7A):c.1355del (p.Val452fs) rs797045329
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter) rs797045330
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1544-1G>A rs797045331
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs) rs797045333
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982
NM_000052.7(ATP7A):c.1707+1G>A rs1569549753
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter) rs797045336
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter) rs797045337
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
NM_000052.7(ATP7A):c.1945_1946+2dup
NM_000052.7(ATP7A):c.1946+1G>C rs797045340
NM_000052.7(ATP7A):c.1946+5G>A rs797045341
NM_000052.7(ATP7A):c.1947-1G>A rs794729231
NM_000052.7(ATP7A):c.1947-1G>C rs794729231
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter) rs797045342
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs) rs797045343
NM_000052.7(ATP7A):c.1996G>A (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.2019_2021dup (p.Met674_Asp675insIle) rs1569549885
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461
NM_000052.7(ATP7A):c.2063G>A (p.Ser688Asn) rs1367140209
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) rs797045346
NM_000052.7(ATP7A):c.2172+2C>T
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172+7G>T rs782433802
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2173-2A>G rs797045349
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter) rs72554644
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs) rs797045352
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2302del (p.Ala768fs) rs797045353
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg) rs797045354
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs) rs797045355
NM_000052.7(ATP7A):c.2405_2406+1delinsT rs797045356
NM_000052.7(ATP7A):c.2406+6G>A
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.7(ATP7A):c.2498+2T>A rs797045357
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2499-1G>A rs797045359
NM_000052.7(ATP7A):c.2499-1_2504dup rs797045358
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu) rs797045360
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer) rs797045361
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.7(ATP7A):c.2750T>A (p.Val917Asp) rs797045362
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619
NM_000052.7(ATP7A):c.2781G>C (p.Lys927Asn) rs797045363
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs) rs1603387278
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp) rs72554652
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del) rs797045366
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.3112-1G>A rs797045367
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872
NM_000052.7(ATP7A):c.3124del (p.Val1042fs) rs797045368
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly) rs797045369
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu) rs797045370
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter) rs797045372
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter) rs797045373
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3294+1G>T rs797045374
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
NM_000052.7(ATP7A):c.3340del (p.Val1114fs) rs797045375
NM_000052.7(ATP7A):c.3352G>T (p.Gly1118Cys) rs797045376
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter) rs797045377
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter) rs797045378
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) rs797045379
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
NM_000052.7(ATP7A):c.3537del (p.Val1180fs) rs797045380
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu) rs797045382
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer) rs797045383
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs) rs797045384
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741
NM_000052.7(ATP7A):c.3800A>T (p.Gln1267Leu) rs797045385
NM_000052.7(ATP7A):c.3801+1G>T rs797045386
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000052.7(ATP7A):c.3801+6T>C rs181665434
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn) rs1603391127
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg) rs797045388
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs) rs797045389
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg) rs797045390
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4011_4013TCT[1] (p.Leu1339del) rs797045392
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
NM_000052.7(ATP7A):c.408_415del (p.Asn137fs) rs1569549587
NM_000052.7(ATP7A):c.4123+1G>A rs797045393
NM_000052.7(ATP7A):c.4123G>A (p.Gly1375Arg) rs797045394
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs) rs797045395
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.4187C>T (p.Ser1396Leu) rs797045396
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.7(ATP7A):c.420_421AG[1] (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4226+5G>A rs797045398
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter) rs797045399
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.610+8G>A rs144616937
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.7(ATP7A):c.876del (p.Ser293fs) rs797045400
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829
NM_000108.5(DLD):c.*1027T>G
NM_000108.5(DLD):c.*1074C>G
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1145A>T
NM_000108.5(DLD):c.*1231A>G
NM_000108.5(DLD):c.*1300A>G
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*1401G>T
NM_000108.5(DLD):c.*1422C>T
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*1505C>T
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1688G>A rs8440
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1791_*1794del rs760145994
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*374G>T
NM_000108.5(DLD):c.*394A>G
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*487C>T rs4518
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.*739G>A
NM_000108.5(DLD):c.*845G>A
NM_000108.5(DLD):c.*855C>T rs116055514
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.*898C>T
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.-10C>T
NM_000108.5(DLD):c.-8G>T rs372155330
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.118+1G>T rs1554396908
NM_000108.5(DLD):c.119-4G>A rs376605135
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1236+1G>T rs1554400483
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
NM_000108.5(DLD):c.1340_1343CAGA[1] (p.Asp448fs)
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1444_1445AG[1] (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.1516_1519TCAA[1] (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.199-1G>A rs1554398264
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.267+9G>A rs188936529
NM_000108.5(DLD):c.268-2A>G rs1554398461
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
NM_000108.5(DLD):c.30C>A (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.39+1G>A rs111257462
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464
NM_000108.5(DLD):c.583-1G>C
NM_000108.5(DLD):c.583-3C>T rs186031819
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.684+1G>T rs780025714
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326
NM_000108.5(DLD):c.821dup (p.Leu274fs)
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000108.5(DLD):c.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000108.5(DLD):c.876-6A>T rs199944006
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212
NM_000156.6(GAMT):c.*146A>C rs659455
NM_000156.6(GAMT):c.*151T>C rs659460
NM_000156.6(GAMT):c.*276C>T rs266810
NM_000156.6(GAMT):c.*311C>G rs266811
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000166.6(GJB1):c.*117C>T rs41307256
NM_000166.6(GJB1):c.*163G>T rs139775308
NM_000166.6(GJB1):c.*22C>T
NM_000166.6(GJB1):c.*277A>G
NM_000166.6(GJB1):c.*309G>A
NM_000166.6(GJB1):c.*34C>A rs113014279
NM_000166.6(GJB1):c.*402G>A
NM_000166.6(GJB1):c.*443G>A
NM_000166.6(GJB1):c.*50G>C
NM_000166.6(GJB1):c.-102G>A
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-128G>A rs1057515983
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser) rs1602348782
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.281A>G (p.His94Arg) rs1602349095
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.370A>G (p.Lys124Glu) rs1555937161
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.392_393TG[1] (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000166.6(GJB1):c.466_467CT[1] (p.Tyr157fs) rs1602349420
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.783_784del (p.Ile262fs) rs1602349955
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000194.2(HPRT1):c.-707_27+2236del
NM_000194.2(HPRT1):c.122T>C (p.Leu41Pro) rs137852480
NM_000194.2(HPRT1):c.151C>G (p.Arg51Gly) rs137852494
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.155A>G (p.Asp52Gly) rs137852502
NM_000194.2(HPRT1):c.172G>A (p.Gly58Arg) rs137852500
NM_000194.2(HPRT1):c.209G>A (p.Gly70Glu) rs137852487
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000194.2(HPRT1):c.222C>A (p.Phe74Leu) rs137852481
NM_000194.2(HPRT1):c.232C>G (p.Leu78Val) rs137852501
NM_000194.2(HPRT1):c.239A>T (p.Asp80Val) rs137852478
NM_000194.2(HPRT1):c.312C>A (p.Ser104Arg) rs137852485
NM_000194.2(HPRT1):c.329C>T (p.Ser110Leu) rs137852482
NM_000194.2(HPRT1):c.389T>A (p.Val130Asp) rs137852483
NM_000194.2(HPRT1):c.396T>G (p.Ile132Met) rs137852477
NM_000194.2(HPRT1):c.419G>A (p.Gly140Asp) rs137852503
NM_000194.2(HPRT1):c.459T>G (p.Tyr153Ter) rs137852505
NM_000194.2(HPRT1):c.46G>A (p.Gly16Ser) rs137852499
NM_000194.2(HPRT1):c.481G>T (p.Ala161Ser) rs137852484
NM_000194.2(HPRT1):c.503C>T (p.Thr168Ile) rs137852498
NM_000194.2(HPRT1):c.580G>A (p.Asp194Asn) rs267606863
NM_000194.2(HPRT1):c.582C>G (p.Asp194Glu) rs137852504
NM_000194.2(HPRT1):c.595T>G (p.Phe199Val) rs137852486
NM_000194.2(HPRT1):c.602A>G (p.Asp201Gly) rs137852479
NM_000194.2(HPRT1):c.643_*6del21 (p.Lys215fs) rs387906428
NM_000194.3(HPRT1):c.124_127del (p.Ile42fs)
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000194.3(HPRT1):c.134G>A (p.Arg45Lys) rs137852491
NM_000194.3(HPRT1):c.143G>A (p.Arg48His) rs387906725
NM_000194.3(HPRT1):c.193C>T (p.Leu65Phe) rs137852506
NM_000194.3(HPRT1):c.212dup (p.Tyr72fs) rs786200980
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys) rs1602741150
NM_000194.3(HPRT1):c.22_27+28del
NM_000194.3(HPRT1):c.28-2A>T rs1569354918
NM_000194.3(HPRT1):c.319-2A>G rs1602745376
NM_000194.3(HPRT1):c.325C>T (p.Gln109Ter) rs137852489
NM_000194.3(HPRT1):c.368C>G (p.Ser123Ter) rs369065223
NM_000194.3(HPRT1):c.428T>A (p.Met143Lys) rs137852496
NM_000194.3(HPRT1):c.47G>T (p.Gly16Val) rs1135401801
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)
NM_000194.3(HPRT1):c.485G>T (p.Ser162Ile) rs886042455
NM_000194.3(HPRT1):c.486-2A>G
NM_000194.3(HPRT1):c.508C>T (p.Arg170Ter) rs137852497
NM_000194.3(HPRT1):c.527C>T (p.Pro176Leu) rs137852493
NM_000194.3(HPRT1):c.529G>T (p.Asp177Tyr) rs137852492
NM_000194.3(HPRT1):c.532+5G>A rs1569360089
NM_000194.3(HPRT1):c.536T>C (p.Val179Ala) rs1569360120
NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer)
NM_000194.3(HPRT1):c.609+5G>A rs1569360139
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610-4_610-2delinsTTT rs672601245
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) rs137852490
NM_000194.3(HPRT1):c.648del (p.Lys215_Tyr216insTer) rs1602750626
NM_000194.3(HPRT1):c.653C>G (p.Ala218Gly) rs1602750635
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.7(IDS):c.-217_103del320 rs1557340558
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1006+1G>T rs869025308
NM_000202.8(IDS):c.1006+8T>C rs782781942
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.103+7C>T rs369735286
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) rs1569560392
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) rs1557338127
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) rs869025306
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1350del (p.Pro451fs)
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1452_1453TA[1] (p.Ile485fs)
NM_000202.8(IDS):c.1463del (p.Met488fs) rs869025307
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.191T>A (p.Ile64Asn) rs781997631
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)
NM_000202.8(IDS):c.22_37del (p.Arg8fs) rs864622775
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418
NM_000202.8(IDS):c.238C>T (p.Gln80Ter) rs1569560527
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His)
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.411del (p.His138fs) rs864622776
NM_000202.8(IDS):c.418+1G>C rs1602748255
NM_000202.8(IDS):c.418+34G>T rs1463289439
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) rs869025304
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.473_475ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.479C>G (p.Pro160Arg) rs104894856
NM_000202.8(IDS):c.507+6G>T rs370769925
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.508-1G>C rs113993947
NM_000202.8(IDS):c.509_510del (p.Thr170fs) rs483352904
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.589_592del (p.Pro197fs) rs1602742854
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
NM_000202.8(IDS):c.610C>T (p.Gln204Ter)
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) rs1569560489
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.708+1G>T
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) rs869025305
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) rs1602750400
NM_000202.8(IDS):c.906_907CT[1] (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487
NM_000202.8(IDS):c.984del (p.Ile329fs) rs1602734459
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_000240.3(MAOA):c.133C>T (p.Arg45Trp) rs796065312
NM_000240.3(MAOA):c.1545G>T (p.Gly515=) rs1223537199
NM_000240.3(MAOA):c.168+11_168+15del rs375984321
NM_000240.3(MAOA):c.260A>G (p.Glu87Gly) rs747229681
NM_000240.3(MAOA):c.3G>A (p.Met1Ile) rs1601921232
NM_000240.3(MAOA):c.402G>A (p.Met134Ile) rs771740634
NM_000240.3(MAOA):c.515G>A (p.Arg172Gln) rs58524323
NM_000240.3(MAOA):c.702C>T (p.Leu234=) rs370853887
NM_000240.3(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000240.3(MAOA):c.74-6C>T rs1196492976
NM_000240.3(MAOA):c.749_750insT (p.Ser251fs) rs796065311
NM_000240.3(MAOA):c.797G>T (p.Cys266Phe) rs587777457
NM_000240.3(MAOA):c.816G>A (p.Ala272=) rs751223564
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.886C>T (p.Gln296Ter) rs72554632
NM_000240.3(MAOA):c.890G>A (p.Arg297Gln) rs780647851
NM_000252.2(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.2(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.2(MTM1):c.1052A>G (p.Lys351Arg) rs150430628
NM_000252.2(MTM1):c.1053+1G>A rs587783751
NM_000252.2(MTM1):c.1053+1G>C rs587783751
NM_000252.2(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.2(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.2(MTM1):c.109C>T (p.Arg37Ter) rs587783753
NM_000252.2(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.2(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.2(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.2(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.2(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.2(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.2(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.2(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.2(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.2(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.2(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.2(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs) rs797045711
NM_000252.2(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.2(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.2(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.2(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.2(MTM1):c.1260+1G>A rs587783768
NM_000252.2(MTM1):c.1260+5G>A rs587783769
NM_000252.2(MTM1):c.1261-10A>G rs397518445
NM_000252.2(MTM1):c.1261-1G>C rs587783770
NM_000252.2(MTM1):c.1261C>T (p.Arg421Ter) rs587783771
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.2(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.2(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.2(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.2(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.2(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.2(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.2(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.2(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.2(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.2(MTM1):c.1349_1353+4del rs797045715
NM_000252.2(MTM1):c.1353+1G>A rs587783779
NM_000252.2(MTM1):c.1353+2T>C rs587783780
NM_000252.2(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.2(MTM1):c.1354-1G>A rs587783782
NM_000252.2(MTM1):c.136+9C>T rs191553188
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.137-7T>G rs587783784
NM_000252.2(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.2(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.2(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.2(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.2(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.2(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.2(MTM1):c.141_144del (p.Glu48fs) rs587783791
NM_000252.2(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.2(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.2(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.2(MTM1):c.1454C>T (p.Ala485Val) rs782137551
NM_000252.2(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.2(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.2(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.2(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.2(MTM1):c.1467+1G>A rs587783798
NM_000252.2(MTM1):c.1467+1G>T rs587783798
NM_000252.2(MTM1):c.1467+2T>A rs587783799
NM_000252.2(MTM1):c.1468-10C>T rs782174623
NM_000252.2(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.2(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.2(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.2(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.2(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.2(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.2(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
NM_000252.2(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000252.2(MTM1):c.1702A>G (p.Ile568Val) rs587783807
NM_000252.2(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.2(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331
NM_000252.2(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.2(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.2(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.2(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.2(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.2(MTM1):c.231+1G>A rs587783810
NM_000252.2(MTM1):c.231+2T>G rs587783811
NM_000252.2(MTM1):c.232-1G>A rs587783812
NM_000252.2(MTM1):c.232-2A>C rs587783813
NM_000252.2(MTM1):c.232-3C>A rs587783814
NM_000252.2(MTM1):c.232-7A>G rs373045797
NM_000252.2(MTM1):c.233A>T (p.Asp78Val) rs782215492
NM_000252.2(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.2(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.2(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.2(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.2(MTM1):c.339T>C (p.Cys113=) rs147644722
NM_000252.2(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.2(MTM1):c.342+1G>A rs1557413092
NM_000252.2(MTM1):c.342+4A>G rs587783820
NM_000252.2(MTM1):c.342_342+4del rs797045717
NM_000252.2(MTM1):c.343-2A>G rs587783821
NM_000252.2(MTM1):c.395_396AT[1] (p.Met133fs) rs587783822
NM_000252.2(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.2(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.2(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.423G>A (p.Ala141=) rs377311110
NM_000252.2(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.2(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.2(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.2(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.2(MTM1):c.481G>A (p.Val161Met) rs782744530
NM_000252.2(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.2(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.2(MTM1):c.528+1G>T rs587783830
NM_000252.2(MTM1):c.529-2A>G rs587783831
NM_000252.2(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.2(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.2(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.2(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.2(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.2(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.2(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.2(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.2(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.582C>T (p.Leu194=) rs367912069
NM_000252.2(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.2(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.2(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.2(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.2(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.2(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.2(MTM1):c.63+1G>A rs587783843
NM_000252.2(MTM1):c.63+3A>T rs587783844
NM_000252.2(MTM1):c.63+7del rs782222093
NM_000252.2(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.2(MTM1):c.64-1G>A rs587783846
NM_000252.2(MTM1):c.64-2A>G rs1603123976
NM_000252.2(MTM1):c.65C>T (p.Thr22Met) rs781886721
NM_000252.2(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.2(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.678+1G>A rs587783849
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000252.2(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.2(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.2(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.2(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.2(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.2(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.2(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.2(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.2(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.2(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.2(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.2(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.2(MTM1):c.867+1G>A rs587783858
NM_000252.2(MTM1):c.867+4A>T rs1322584849
NM_000252.2(MTM1):c.867_867+1dup rs797045721
NM_000252.2(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.2(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.2(MTM1):c.921_923CTT[1] (p.Phe308del) rs587783862
NM_000252.2(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.2(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.2(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.2(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.2(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.2(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) rs1557414507
NM_000252.3(MTM1):c.116del (p.Pro39fs)
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
NM_000252.3(MTM1):c.1354-2A>T
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) rs1603208507
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
NM_000252.3(MTM1):c.482_485TGGA[2] (p.Trp164fs) rs1603184989
NM_000252.3(MTM1):c.516del (p.Glu172fs)
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) rs1408923946
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952
NM_000252.3(MTM1):c.624del (p.Ser209fs)
NM_000252.3(MTM1):c.64-9T>C rs189752798
NM_000252.3(MTM1):c.678+6T>A
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)
NM_000252.3(MTM1):c.788T>G (p.Val263Gly)
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)
NM_000252.3(MTM1):c.954G>C (p.Arg318=) rs1557414126
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.4(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.4(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867
NM_000266.4(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter) rs1556346316
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1244+1G>A
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg)
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro) rs1569460215
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro) rs1602791150
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.4(OCRL):c.1440_1441CT[1] (p.Asp480_Ser481insTer) rs1602791255
NM_000276.4(OCRL):c.1467-3C>G rs779822028
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter) rs398123287
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu) rs1569460717
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1602G>A (p.Gly534=) rs773214157
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu) rs1602802472
NM_000276.4(OCRL):c.1979A>C (p.His660Pro) rs1602802640
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val) rs755071897
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro) rs935956958
NM_000276.4(OCRL):c.239-4023A>G rs1057515577
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000276.4(OCRL):c.2469+1G>A
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter) rs387906484
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile) rs376280495
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter) rs1556359544
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp) rs773022942
NM_000276.4(OCRL):c.40-5C>T rs201211377
NM_000276.4(OCRL):c.40-80dup rs369736288
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000276.4(OCRL):c.441G>A (p.Gly147=) rs199624352
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)
NM_000276.4(OCRL):c.674_675AT[1] (p.Ile226fs) rs1602782195
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)
NM_000276.4(OCRL):c.746T>G (p.Val249Gly) rs1602783417
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.4(OCRL):c.860dup (p.Tyr288fs) rs1556345889
NM_000276.4(OCRL):c.897G>A (p.Met299Ile) rs138260625
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000284.4(PDHA1):c.*1013C>A
NM_000284.4(PDHA1):c.*1059G>A
NM_000284.4(PDHA1):c.*110C>T
NM_000284.4(PDHA1):c.*1208A>C
NM_000284.4(PDHA1):c.*1297G>A
NM_000284.4(PDHA1):c.*1306G>A
NM_000284.4(PDHA1):c.*1345A>G
NM_000284.4(PDHA1):c.*1347C>T
NM_000284.4(PDHA1):c.*1376C>T
NM_000284.4(PDHA1):c.*1377G>A
NM_000284.4(PDHA1):c.*1394C>T
NM_000284.4(PDHA1):c.*1450C>T
NM_000284.4(PDHA1):c.*1458C>T
NM_000284.4(PDHA1):c.*1563C>G
NM_000284.4(PDHA1):c.*1598G>C
NM_000284.4(PDHA1):c.*1624T>C
NM_000284.4(PDHA1):c.*1682T>C
NM_000284.4(PDHA1):c.*1779A>T
NM_000284.4(PDHA1):c.*1869G>C rs15943
NM_000284.4(PDHA1):c.*1926G>C
NM_000284.4(PDHA1):c.*198G>A
NM_000284.4(PDHA1):c.*319G>T
NM_000284.4(PDHA1):c.*321C>T
NM_000284.4(PDHA1):c.*322G>A
NM_000284.4(PDHA1):c.*349A>G
NM_000284.4(PDHA1):c.*392G>A
NM_000284.4(PDHA1):c.*432C>T
NM_000284.4(PDHA1):c.*525C>G
NM_000284.4(PDHA1):c.*549A>G
NM_000284.4(PDHA1):c.*575T>C
NM_000284.4(PDHA1):c.*614G>T
NM_000284.4(PDHA1):c.*707G>A
NM_000284.4(PDHA1):c.*728C>T
NM_000284.4(PDHA1):c.*729G>A
NM_000284.4(PDHA1):c.*79_*90dup rs1555935690
NM_000284.4(PDHA1):c.*844A>G
NM_000284.4(PDHA1):c.*857A>G
NM_000284.4(PDHA1):c.*864G>A
NM_000284.4(PDHA1):c.-79C>T
NM_000284.4(PDHA1):c.-88G>A
NM_000284.4(PDHA1):c.-98C>T
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) rs1555935486
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) rs606231187
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) rs606231191
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) rs863224147
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) rs606231186
NM_000284.4(PDHA1):c.1163_1166CAGT[1] (p.Ser390fs) rs606231184
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp) rs1569190079
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.291+12G>A
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000284.4(PDHA1):c.292-5C>T rs191666624
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) rs137853257
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) rs1131692230
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) rs398123300
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) rs863224150
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) rs1555934165
NM_000284.4(PDHA1):c.57+6A>T rs375415868
NM_000284.4(PDHA1):c.58-1G>A rs1569189834
NM_000284.4(PDHA1):c.604-10C>T rs201754585
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) rs1569191659
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) rs121917898
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) rs137853255
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) rs1555934379
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) rs1602227679
NM_000284.4(PDHA1):c.759+10C>G rs375488072
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.760-15C>A rs7058209
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) rs137853253
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) rs137853259
NM_000284.4(PDHA1):c.789_790AG[1] (p.Glu264fs) rs1569191879
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_000284.4(PDHA1):c.831+15C>T rs190157093
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) rs1057521993
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) rs606231190
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) rs137853258
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647
NM_000284.4(PDHA1):c.900-3_917dup rs606231188
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) rs1064794149
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) rs1602231489
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) rs606231185
NM_000284.4(PDHA1):c.930_932AAG[1] (p.Arg311del) rs1555935223
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) rs1602231539
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) rs137853251
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) rs137853251
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) rs137853256
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
NM_000291.4(PGK1):c.571_573AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.253+2T>A rs1224040268
NM_000314.7(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000330.4(RS1):c.184+3119G>A rs762576315
NM_000330.4(RS1):c.184+3136A>T
NM_000330.4(RS1):c.184+3170G>A
NM_000330.4(RS1):c.184+3231A>C
NM_000330.4(RS1):c.185-3128G>A
NM_000330.4(RS1):c.185-3212G>A
NM_000330.4(RS1):c.185-3221G>A
NM_000330.4(RS1):c.185-3261C>T
NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_000330.4(RS1):c.326+1106del
NM_000330.4(RS1):c.326+1151T>C
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.464-2A>C rs794728013
NM_000489.5(ATRX):c.1004G>C (p.Cys335Ser) rs782395663
NM_000489.5(ATRX):c.1032C>T (p.Ser344=) rs143491422
NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) rs149249195
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1047C>G (p.Pro349=) rs200288042
NM_000489.5(ATRX):c.1077G>T (p.Leu359=) rs782504858
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.1111G>C (p.Val371Leu) rs782128117
NM_000489.5(ATRX):c.1130C>T (p.Ala377Val) rs781955237
NM_000489.5(ATRX):c.1159A>G (p.Thr387Ala) rs1603225916
NM_000489.5(ATRX):c.1168C>T (p.Arg390Cys) rs150484080
NM_000489.5(ATRX):c.1245C>T (p.Ser415=) rs141815992
NM_000489.5(ATRX):c.1256C>T (p.Ala419Val) rs374958282
NM_000489.5(ATRX):c.1257G>A (p.Ala419=) rs185550133
NM_000489.5(ATRX):c.1264G>A (p.Ala422Thr) rs1424850007
NM_000489.5(ATRX):c.12G>A (p.Glu4=) rs782765957
NM_000489.5(ATRX):c.1303A>G (p.Ile435Val) rs371580333
NM_000489.5(ATRX):c.1322_1324del (p.Thr441del) rs1569539303
NM_000489.5(ATRX):c.1423C>G (p.His475Asp) rs146863015
NM_000489.5(ATRX):c.1423C>T (p.His475Tyr) rs146863015
NM_000489.5(ATRX):c.1446A>C (p.Glu482Asp) rs886044778
NM_000489.5(ATRX):c.1448A>C (p.Gln483Pro) rs781820428
NM_000489.5(ATRX):c.1467C>T (p.Thr489=) rs199929884
NM_000489.5(ATRX):c.1509A>G (p.Gln503=) rs1039587651
NM_000489.5(ATRX):c.1606A>G (p.Met536Val) rs781865069
NM_000489.5(ATRX):c.1625T>C (p.Val542Ala) rs782158232
NM_000489.5(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.5(ATRX):c.1645A>G (p.Ser549Gly) rs148513102
NM_000489.5(ATRX):c.1674T>A (p.Ser558Arg) rs1569539199
NM_000489.5(ATRX):c.167T>A (p.Met56Lys) rs782553856
NM_000489.5(ATRX):c.16A>G (p.Met6Val) rs782080475
NM_000489.5(ATRX):c.1781C>G (p.Ser594Cys) rs782774889
NM_000489.5(ATRX):c.1798A>G (p.Ile600Val) rs375129029
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.1827A>G (p.Pro609=) rs1603222884
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.1878A>G (p.Lys626=) rs1557140595
NM_000489.5(ATRX):c.189+7A>G rs781842591
NM_000489.5(ATRX):c.189G>A (p.Glu63=) rs587778082
NM_000489.5(ATRX):c.1960C>G (p.Arg654Gly) rs1557140492
NM_000489.5(ATRX):c.1974T>G (p.Arg658=) rs1603222314
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.2064A>G (p.Lys688=) rs781991929
NM_000489.5(ATRX):c.2105A>G (p.Asn702Ser) rs782409603
NM_000489.5(ATRX):c.2118T>A (p.Ser706Arg) rs782598442
NM_000489.5(ATRX):c.2150C>T (p.Pro717Leu) rs372617572
NM_000489.5(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.5(ATRX):c.2224A>G (p.Ser742Gly) rs368980616
NM_000489.5(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179
NM_000489.5(ATRX):c.222A>G (p.Ser74=) rs782427200
NM_000489.5(ATRX):c.2241_2243TTC[2] (p.Ser750del) rs1297294136
NM_000489.5(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2292G>C (p.Leu764Phe) rs1557139933
NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.5(ATRX):c.2316G>T (p.Gly772=) rs1187990991
NM_000489.5(ATRX):c.2388A>C (p.Lys796Asn) rs1603220590
NM_000489.5(ATRX):c.2423G>A (p.Arg808Gln) rs782181535
NM_000489.5(ATRX):c.243-4A>T rs782131289
NM_000489.5(ATRX):c.2457A>G (p.Ser819=) rs1051441832
NM_000489.5(ATRX):c.2461_2466del (p.Leu821_Glu822del) rs781862926
NM_000489.5(ATRX):c.2472G>C (p.Glu824Asp) rs1557139572
NM_000489.5(ATRX):c.2484G>C (p.Met828Ile) rs782705007
NM_000489.5(ATRX):c.2492T>C (p.Ile831Thr) rs1603220048
NM_000489.5(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497
NM_000489.5(ATRX):c.2507C>A (p.Thr836Asn) rs1603219919
NM_000489.5(ATRX):c.2524C>T (p.Pro842Ser) rs782196312
NM_000489.5(ATRX):c.2531C>A (p.Thr844Lys) rs139131007
NM_000489.5(ATRX):c.2540T>C (p.Phe847Ser) rs45624939
NM_000489.5(ATRX):c.2581G>A (p.Asp861Asn) rs782629714
NM_000489.5(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.5(ATRX):c.2615A>T (p.Gln872Leu) rs782162927
NM_000489.5(ATRX):c.2648A>G (p.Gln883Arg) rs587778086
NM_000489.5(ATRX):c.2650G>A (p.Glu884Lys) rs200343648
NM_000489.5(ATRX):c.2658G>C (p.Glu886Asp) rs141180098
NM_000489.5(ATRX):c.2674G>A (p.Glu892Lys) rs1603218994
NM_000489.5(ATRX):c.2680A>C (p.Thr894Pro) rs145807475
NM_000489.5(ATRX):c.2696C>T (p.Thr899Met) rs782757975
NM_000489.5(ATRX):c.2697G>A (p.Thr899=) rs137974888
NM_000489.5(ATRX):c.2701A>G (p.Ile901Val) rs587778087
NM_000489.5(ATRX):c.2720G>A (p.Arg907Gln) rs143413618
NM_000489.5(ATRX):c.2730G>C (p.Lys910Asn) rs1206627354
NM_000489.5(ATRX):c.2752A>G (p.Thr918Ala) rs1603218619
NM_000489.5(ATRX):c.2763C>T (p.Val921=) rs782004945
NM_000489.5(ATRX):c.2770C>A (p.Leu924Ile) rs1569538903
NM_000489.5(ATRX):c.2782G>C (p.Glu928Gln) rs797044792
NM_000489.5(ATRX):c.2785G>C (p.Glu929Gln) rs3088074
NM_000489.5(ATRX):c.278A>T (p.Asp93Val) rs1064796774
NM_000489.5(ATRX):c.2794A>G (p.Thr932Ala) rs1557138839
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000489.5(ATRX):c.2859A>G (p.Thr953=) rs782180867
NM_000489.5(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431
NM_000489.5(ATRX):c.2880C>T (p.Gly960=) rs782796279
NM_000489.5(ATRX):c.288A>G (p.Lys96=) rs45574238
NM_000489.5(ATRX):c.2890A>G (p.Ile964Val) rs1271635013
NM_000489.5(ATRX):c.2923G>A (p.Asp975Asn) rs200709847
NM_000489.5(ATRX):c.2968G>A (p.Glu990Lys) rs376883807
NM_000489.5(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.5(ATRX):c.3030A>G (p.Glu1010=) rs781816426
NM_000489.5(ATRX):c.3042T>C (p.Asp1014=) rs140476563
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3210A>G (p.Lys1070=) rs782634074
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000489.5(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074
NM_000489.5(ATRX):c.3228T>A (p.Ser1076=) rs1205167045
NM_000489.5(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598
NM_000489.5(ATRX):c.3306G>A (p.Arg1102=) rs782279780
NM_000489.5(ATRX):c.3349A>G (p.Met1117Val) rs1569538741
NM_000489.5(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285
NM_000489.5(ATRX):c.3417T>C (p.Asn1139=) rs1603216127
NM_000489.5(ATRX):c.3462A>G (p.Ser1154=) rs782121260
NM_000489.5(ATRX):c.3498_3500del (p.Lys1169del) rs782695846
NM_000489.5(ATRX):c.3505A>C (p.Lys1169Gln) rs1225665090
NM_000489.5(ATRX):c.3527A>T (p.Lys1176Met) rs191563592
NM_000489.5(ATRX):c.3535G>A (p.Val1179Ile) rs1569538665
NM_000489.5(ATRX):c.3537C>T (p.Val1179=) rs782800250
NM_000489.5(ATRX):c.3538A>G (p.Ile1180Val) rs782554626
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.3546G>C (p.Lys1182Asn) rs1490780716
NM_000489.5(ATRX):c.3559A>G (p.Asn1187Asp) rs782146598
NM_000489.5(ATRX):c.357G>C (p.Gln119His) rs959739617
NM_000489.5(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582
NM_000489.5(ATRX):c.3646A>G (p.Ile1216Val) rs782062542
NM_000489.5(ATRX):c.3663C>T (p.Ser1221=) rs1214349616
NM_000489.5(ATRX):c.3664G>A (p.Asp1222Asn) rs782520515
NM_000489.5(ATRX):c.371-4C>G rs1603240656
NM_000489.5(ATRX):c.3786T>C (p.Asp1262=) rs782113542
NM_000489.5(ATRX):c.3801T>C (p.Pro1267=) rs149717199
NM_000489.5(ATRX):c.3880G>C (p.Asp1294His) rs782386546
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.3978A>G (p.Ser1326=) rs369658928
NM_000489.5(ATRX):c.3987A>G (p.Glu1329=) rs147160114
NM_000489.5(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.4070A>G (p.Lys1357Arg) rs1064796812
NM_000489.5(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4177G>C (p.Val1393Leu) rs147331649
NM_000489.5(ATRX):c.4203G>A (p.Arg1401=) rs1399734659
NM_000489.5(ATRX):c.4210A>G (p.Thr1404Ala) rs781835568
NM_000489.5(ATRX):c.4214+6A>G rs782562759
NM_000489.5(ATRX):c.4215-5G>A rs111833322
NM_000489.5(ATRX):c.4224G>A (p.Lys1408=) rs781984385
NM_000489.5(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn) rs1603095546
NM_000489.5(ATRX):c.4233G>T (p.Glu1411Asp) rs1557118780
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.5(ATRX):c.4329G>A (p.Glu1443=) rs782044671
NM_000489.5(ATRX):c.4332_4334AGA[1] (p.Glu1448del) rs1356648720
NM_000489.5(ATRX):c.4344_4358del (p.Lys1449_Glu1453del) rs1557117436
NM_000489.5(ATRX):c.4347_4349AGA[1] (p.Glu1464del) rs587780288
NM_000489.5(ATRX):c.4347_4358del (p.Glu1461_Glu1464del) rs1557117424
NM_000489.5(ATRX):c.4353_4355GGA[2] (p.Glu1464del) rs782630348
NM_000489.5(ATRX):c.4365_4367GGA[4] (p.Glu1464del) rs398123423
NM_000489.5(ATRX):c.4366G>A (p.Glu1456Lys) rs782646619
NM_000489.5(ATRX):c.4368G>A (p.Glu1456=) rs1557117399
NM_000489.5(ATRX):c.4422A>C (p.Gly1474=) rs1603084380
NM_000489.5(ATRX):c.4558-3T>G rs1602996115
NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) rs797045406
NM_000489.5(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.5(ATRX):c.4654G>T (p.Val1552Phe) rs1602995714
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4710T>C (p.Phe1570=) rs781829081
NM_000489.5(ATRX):c.480C>T (p.Arg160=) rs1422750101
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.5(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.5(ATRX):c.4859G>A (p.Ser1620Asn) rs781875880
NM_000489.5(ATRX):c.4862C>T (p.Thr1621Met) rs122445106
NM_000489.5(ATRX):c.4863G>A (p.Thr1621=) rs782108010
NM_000489.5(ATRX):c.4865C>T (p.Ala1622Val) rs1135401793
NM_000489.5(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.5(ATRX):c.5039T>C (p.Ile1680Thr) rs1557106482
NM_000489.5(ATRX):c.5048A>G (p.Tyr1683Cys) rs1602979414
NM_000489.5(ATRX):c.5073A>G (p.Gln1691=) rs781845474
NM_000489.5(ATRX):c.5124G>T (p.Leu1708Phe) rs1602978896
NM_000489.5(ATRX):c.5221A>C (p.Arg1741=) rs782633224
NM_000489.5(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.5(ATRX):c.5349A>G (p.Pro1783=) rs149960511
NM_000489.5(ATRX):c.536A>G (p.Asn179Ser) rs398123425
NM_000489.5(ATRX):c.5377A>C (p.Thr1793Pro) rs1569531570
NM_000489.5(ATRX):c.5405A>C (p.Lys1802Thr) rs1602876401
NM_000489.5(ATRX):c.5406A>G (p.Lys1802=) rs1200376246
NM_000489.5(ATRX):c.546A>G (p.Gln182=) rs375794120
NM_000489.5(ATRX):c.5484T>C (p.Pro1828=) rs782803109
NM_000489.5(ATRX):c.5493C>T (p.His1831=) rs782508028
NM_000489.5(ATRX):c.5536C>T (p.Leu1846Phe) rs1557097008
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.5565A>G (p.Thr1855=) rs1557096967
NM_000489.5(ATRX):c.5566+5A>C rs782212670
NM_000489.5(ATRX):c.5573G>A (p.Gly1858Asp) rs1602739123
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.567C>T (p.His189=) rs1603233545
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.5(ATRX):c.5698-15dup rs781820607
NM_000489.5(ATRX):c.5698-7del rs781820607
NM_000489.5(ATRX):c.569C>T (p.Pro190Leu) rs1057518708
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.5(ATRX):c.5799A>G (p.Lys1933=) rs1557085918
NM_000489.5(ATRX):c.5935G>C (p.Val1979Leu) rs782773652
NM_000489.5(ATRX):c.5957-9C>G rs375791318
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.6024T>C (p.Asp2008=) rs782159753
NM_000489.5(ATRX):c.6036G>A (p.Glu2012=) rs376679217
NM_000489.5(ATRX):c.6104A>G (p.Asp2035Gly) rs122445096
NM_000489.5(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.5(ATRX):c.6122G>A (p.Ser2041Asn) rs1060499658
NM_000489.5(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.5(ATRX):c.6254G>T (p.Arg2085Leu) rs1057517948
NM_000489.5(ATRX):c.6379G>A (p.Val2127Ile) rs1602536860
NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) rs122445101
NM_000489.5(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.5(ATRX):c.6484G>A (p.Val2162Ile) rs1569523175
NM_000489.5(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.5(ATRX):c.6505-8T>C rs782548527
NM_000489.5(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.5(ATRX):c.6730C>T (p.His2244Tyr) rs1569515985
NM_000489.5(ATRX):c.6794A>G (p.Glu2265Gly) rs1557042387
NM_000489.5(ATRX):c.6863G>A (p.Arg2288His) rs1135401774
NM_000489.5(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507
NM_000489.5(ATRX):c.6871A>G (p.Ile2291Val) rs374244026
NM_000489.5(ATRX):c.6873A>G (p.Ile2291Met) rs192057045
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.6927T>A (p.Ile2309=) rs1557041797
NM_000489.5(ATRX):c.6978C>A (p.Asp2326Glu) rs1569515631
NM_000489.5(ATRX):c.7044A>G (p.Gln2348=) rs375935735
NM_000489.5(ATRX):c.7083C>T (p.Asn2361=) rs3027525
NM_000489.5(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.5(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.5(ATRX):c.7192C>T (p.Gln2398Ter) rs1569515457
NM_000489.5(ATRX):c.7201-4A>G rs782317502
NM_000489.5(ATRX):c.7254C>T (p.Tyr2418=) rs782527659
NM_000489.5(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125
NM_000489.5(ATRX):c.729C>G (p.Cys243Trp) rs1057524153
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.7379A>G (p.Tyr2460Cys) rs782169215
NM_000489.5(ATRX):c.737G>T (p.Arg246Leu) rs1603226766
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000489.5(ATRX):c.798C>T (p.Tyr266=) rs376341197
NM_000489.5(ATRX):c.820T>C (p.Leu274=) rs146012355
NM_000489.5(ATRX):c.829G>C (p.Val277Leu) rs1569539465
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.913A>G (p.Ser305Gly) rs782778928
NM_000489.5(ATRX):c.983A>G (p.Glu328Gly) rs1557142526
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val)
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu)
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val)
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val)
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val)
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr)
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
NM_000489.6(ATRX):c.189+5G>A
NM_000489.6(ATRX):c.18G>A (p.Met6Ile)
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del)
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly)
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
NM_000489.6(ATRX):c.2521A>G (p.Ile841Val)
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
NM_000489.6(ATRX):c.2609C>T (p.Thr870Ile)
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly)
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly)
NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala)
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg)
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn)
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=)
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp)
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del)
NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met)
NM_000489.6(ATRX):c.370+5T>C
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly)
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys)
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly)
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val)
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly)
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp)
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn)
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg)
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)
NM_000489.6(ATRX):c.7168A>G (p.Ile2390Val)
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro)
NM_000531.5(OTC):c.-115C>T rs1555971008
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.5(OTC):c.-139A>G rs1555971001
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-157T>G rs1555970997
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del
NM_000531.6(OTC):c.*105C>T rs1036076773
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.*175T>C
NM_000531.6(OTC):c.*276A>G rs1016109235
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)
NM_000531.6(OTC):c.1015G>A (p.Val339Met)
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.6(OTC):c.1052del (p.Lys351fs)
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.116G>C (p.Gly39Ala)
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.128T>C (p.Leu43Pro)
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.177dup (p.Ser60fs)
NM_000531.6(OTC):c.214G>A (p.Glu72Lys)
NM_000531.6(OTC):c.216+10A>G
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.217-1G>A rs72554327
NM_000531.6(OTC):c.217-2A>G
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+3_298+6del
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.298G>T (p.Gly100Cys)
NM_000531.6(OTC):c.299-5T>C rs377576551
NM_000531.6(OTC):c.299-8T>A rs73196229
NM_000531.6(OTC):c.307C>T (p.Leu103Phe) rs779154479
NM_000531.6(OTC):c.327T>A (p.Cys109Ter)
NM_000531.6(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.387-1G>A rs1602029522
NM_000531.6(OTC):c.387-2A>T rs66556380
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059
NM_000531.6(OTC):c.401T>C (p.Met134Thr)
NM_000531.6(OTC):c.403G>C (p.Ala135Pro)
NM_000531.6(OTC):c.403del (p.Ala135fs) rs72556255
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.425T>G (p.Val142Gly)
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.6(OTC):c.473C>T (p.Pro158Leu)
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.485G>T (p.Gly162Val)
NM_000531.6(OTC):c.488T>G (p.Leu163Arg)
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000531.6(OTC):c.523G>A (p.Asp175Asn)
NM_000531.6(OTC):c.530T>G (p.Leu177Arg)
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.568dup (p.Thr190fs)
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.584G>C (p.Gly195Ala)
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.604C>G (p.His202Asp)
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.614T>A (p.Met205Lys)
NM_000531.6(OTC):c.617T>A (p.Met206Lys)
NM_000531.6(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.626C>A (p.Ala209Glu)
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.635G>T (p.Gly212Val)
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.6(OTC):c.652G>C (p.Ala218Pro)
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.717+2T>C rs72558431
NM_000531.6(OTC):c.717+3A>G rs72558432
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.718-14T>C rs55722856
NM_000531.6(OTC):c.72_77+18del rs863225061
NM_000531.6(OTC):c.740C>G (p.Thr247Arg)
NM_000531.6(OTC):c.749dup (p.Leu251fs)
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000531.6(OTC):c.766G>T (p.Gly256Ter)
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.77+1G>A rs67077695
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.77+5G>C
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814G>A (p.Glu272Lys)
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.867+35T>G rs62622415
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.6(OTC):c.926_928AAG[1] (p.Glu310del)
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.944T>C (p.Val315Ala)
NM_000531.6(OTC):c.946T>G (p.Phe316Val)
NM_000531.6(OTC):c.953_955CTC[1] (p.Pro319del) rs1555976710
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000531.6(OTC):c.959G>C (p.Arg320Pro)
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_000533.5(PLP1):c.128C>T (p.Thr43Ile) rs132630289
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) rs1569427311
NM_000533.5(PLP1):c.169G>T (p.Asp57Tyr) rs132630296
NM_000533.5(PLP1):c.175G>T (p.Glu59Ter) rs1060499653
NM_000533.5(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_000533.5(PLP1):c.220G>A (p.Gly74Arg) rs132630285
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter) rs1602382829
NM_000533.5(PLP1):c.384_393del (p.Gln129fs) rs1556267215
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) rs1569427243
NM_000533.5(PLP1):c.44C>T (p.Pro15Leu) rs11543022
NM_000533.5(PLP1):c.453+159G>A rs1602383261
NM_000533.5(PLP1):c.453+164G>A rs1602383268
NM_000533.5(PLP1):c.453+2T>C rs1556267388
NM_000533.5(PLP1):c.453+4A>G rs1569427707
NM_000533.5(PLP1):c.454-312C>G rs1602383723
NM_000533.5(PLP1):c.467C>T (p.Thr156Ile) rs132630280
NM_000533.5(PLP1):c.487T>C (p.Trp163Arg) rs132630279
NM_000533.5(PLP1):c.518C>G (p.Pro173Arg) rs1556269029
NM_000533.5(PLP1):c.544A>C (p.Thr182Pro) rs132630282
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr) rs1602384238
NM_000533.5(PLP1):c.607G>C (p.Asp203His) rs132630284
NM_000533.5(PLP1):c.617T>G (p.Met206Arg) rs1556269487
NM_000533.5(PLP1):c.646C>T (p.Pro216Ser) rs132630278
NM_000533.5(PLP1):c.655G>T (p.Val219Phe) rs132630281
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly) rs1556270312
NM_000533.5(PLP1):c.671T>C (p.Leu224Pro) rs132630283
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys) rs746949269
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) rs1602385663
NM_000533.5(PLP1):c.762+3G>T rs1569428537
NM_000925.3(PDHB):c.*407_*408delAA rs35161513
NM_000925.4(PDHB):c.*160A>G
NM_000925.4(PDHB):c.*173C>T
NM_000925.4(PDHB):c.*199T>G rs886058777
NM_000925.4(PDHB):c.*201T>C
NM_000925.4(PDHB):c.*243A>C rs1126722
NM_000925.4(PDHB):c.*296C>G rs7231
NM_000925.4(PDHB):c.*328A>G
NM_000925.4(PDHB):c.*353T>C rs1126735
NM_000925.4(PDHB):c.*356A>G rs1126737
NM_000925.4(PDHB):c.*360A>G rs886058776
NM_000925.4(PDHB):c.*365T>A
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*77C>T
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.*99C>T rs7230
NM_000925.4(PDHB):c.-12G>A
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) rs28933391
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.150T>C (p.Asp50=) rs367846961
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.204+9A>C rs202068841
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) rs28935769
NM_000925.4(PDHB):c.417T>C (p.Pro139=) rs762644804
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.45C>G (p.Val15=)
NM_000925.4(PDHB):c.498T>C (p.Tyr166=) rs757249455
NM_000925.4(PDHB):c.501G>T (p.Gly167=) rs759053641
NM_000925.4(PDHB):c.564A>G (p.Lys188=) rs146996786
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.8C>T (p.Ala3Val) rs536872599
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_000925.4(PDHB):c.97-5G>A rs200429396
NM_001001344.2(ATP2B3):c.1473A>G (p.Gly491=) rs3020949
NM_001001344.2(ATP2B3):c.2326+11C>T rs3020957
NM_001001344.2(ATP2B3):c.2592G>C (p.Val864=) rs2269415
NM_001001344.2(ATP2B3):c.2839+14G>T rs3020959
NM_001001344.2(ATP2B3):c.3052-5C>T rs189012896
NM_001001344.2(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001001344.2(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001001344.2(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057
NM_001001344.2(ATP2B3):c.790+17G>C rs2980013
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.1121G>A (p.Gly374Glu) rs756593372
NM_001008537.3(NEXMIF):c.1154G>A (p.Gly385Asp) rs375109305
NM_001008537.3(NEXMIF):c.1256A>G (p.Glu419Gly) rs1018310077
NM_001008537.3(NEXMIF):c.1328G>A (p.Ser443Asn) rs1569335728
NM_001008537.3(NEXMIF):c.1349A>T (p.Tyr450Phe) rs1569335723
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) rs1057518730
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs)
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.1595C>A (p.Thr532Asn)
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.16G>T (p.Asp6Tyr) rs1569336346
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) rs139194076
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly) rs1022775047
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs) rs1569335485
NM_001008537.3(NEXMIF):c.2297G>A (p.Gly766Glu) rs1031348126
NM_001008537.3(NEXMIF):c.2372C>T (p.Thr791Ile) rs1556016474
NM_001008537.3(NEXMIF):c.2404A>G (p.Asn802Asp) rs1003126361
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183
NM_001008537.3(NEXMIF):c.2527G>C (p.Gly843Arg) rs770067542
NM_001008537.3(NEXMIF):c.2570C>T (p.Pro857Leu) rs758329821
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs) rs1556016438
NM_001008537.3(NEXMIF):c.2723T>G (p.Ile908Arg) rs773043102
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001008537.3(NEXMIF):c.2849A>T (p.Tyr950Phe) rs373566578
NM_001008537.3(NEXMIF):c.2886_2887CT[1] (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451
NM_001008537.3(NEXMIF):c.2986A>G (p.Met996Val) rs779441513
NM_001008537.3(NEXMIF):c.2995_2996CT[2] (p.Ser1000fs) rs875989829
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs) rs1556016381
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs) rs1556016352
NM_001008537.3(NEXMIF):c.3227C>A (p.Thr1076Asn)
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs) rs1556016350
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs) rs1569335135
NM_001008537.3(NEXMIF):c.3361C>T (p.Arg1121Trp) rs199579887
NM_001008537.3(NEXMIF):c.3375G>A (p.Met1125Ile) rs1556016332
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001008537.3(NEXMIF):c.347A>G (p.Asn116Ser) rs147908044
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr) rs1281329703
NM_001008537.3(NEXMIF):c.3574T>C (p.Ser1192Pro) rs1286509026
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.3653A>G (p.Gln1218Arg) rs946717276
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs) rs1569334937
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271
NM_001008537.3(NEXMIF):c.395C>T (p.Ser132Leu) rs1602212849
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001008537.3(NEXMIF):c.4183A>T (p.Ile1395Phe)
NM_001008537.3(NEXMIF):c.4235G>T (p.Arg1412Leu)
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) rs1057518728
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892
NM_001008537.3(NEXMIF):c.4289A>C (p.Lys1430Thr) rs774654591
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.4493C>T (p.Thr1498Ile) rs145525836
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs) rs1602212778
NM_001008537.3(NEXMIF):c.563A>C (p.Asn188Thr) rs753449220
NM_001008537.3(NEXMIF):c.61A>G (p.Asn21Asp) rs1364113624
NM_001008537.3(NEXMIF):c.637A>C (p.Arg213=) rs767229255
NM_001008537.3(NEXMIF):c.911G>T (p.Gly304Val) rs376455886
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter) rs132630297
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr) rs132630299
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.139-8A>G rs771399346
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter) rs132630301
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001015877.2(PHF6):c.27dup (p.Gly10fs) rs758791658
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe) rs132630298
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs) rs1556013203
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr) rs132630300
NM_001015877.2(PHF6):c.310C>G (p.His104Asp)
NM_001015877.2(PHF6):c.374+8T>C rs142596708
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr) rs864309532
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys) rs199945885
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) rs1569334260
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001015877.2(PHF6):c.686A>G (p.His229Arg) rs104894918
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu) rs104894917
NM_001015877.2(PHF6):c.729+4A>G rs188961105
NM_001015877.2(PHF6):c.757_759ACA[2] (p.Thr255del) rs1556019105
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly) rs104894919
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg) rs1602716458
NM_001015877.2(PHF6):c.829del (p.Arg277fs)
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe) rs587777489
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174
NM_001018113.3(FANCB):c.*14T>C rs2375726
NM_001018113.3(FANCB):c.*151A>G
NM_001018113.3(FANCB):c.*33T>C rs187611308
NM_001018113.3(FANCB):c.*66T>G rs143434225
NM_001018113.3(FANCB):c.-111A>G
NM_001018113.3(FANCB):c.-173G>C rs2188383
NM_001018113.3(FANCB):c.-219G>T
NM_001018113.3(FANCB):c.-229T>G rs149617434
NM_001018113.3(FANCB):c.-230A>T rs1020271259
NM_001018113.3(FANCB):c.-232G>A rs756766337
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1078A>G (p.Thr360Ala) rs956498867
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
NM_001018113.3(FANCB):c.1265C>T (p.Ser422Phe) rs1057515805
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668
NM_001018113.3(FANCB):c.1327-10T>C rs2905223
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1652G>A (p.Arg551Lys)
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
NM_001018113.3(FANCB):c.1929G>A (p.Glu643=)
NM_001018113.3(FANCB):c.196A>C (p.Thr66Pro)
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396
NM_001018113.3(FANCB):c.350A>C (p.Lys117Thr) rs1057515811
NM_001018113.3(FANCB):c.357A>T (p.Glu119Asp) rs970828551
NM_001018113.3(FANCB):c.362G>A (p.Arg121His)
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533
NM_001018113.3(FANCB):c.782G>A (p.Arg261Gln) rs1057515809
NM_001018113.3(FANCB):c.809A>G (p.Asn270Ser)
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.3(FANCB):c.914C>A (p.Ser305Tyr) rs1057515808
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001029896.2(WDR45):c.131-11_145del rs1569523544
NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) rs864309661
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_001031834.1(RAB40AL):c.177C>A (p.Asp59Glu) rs138133927
NM_001031834.1(RAB40AL):c.775A>G (p.Ile259Val) rs61729484
NM_001032382.2(PQBP1):c.*3C>T
NM_001032382.2(PQBP1):c.*8G>A
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001032382.2(PQBP1):c.642-9C>A
NM_001037343.1:c.100-?_744+?dup
NM_001037811.2(HSD17B10):c.194T>C (p.Val65Ala) rs104886492
NM_001037811.2(HSD17B10):c.218C>G (p.Thr73Arg) rs794729644
NM_001037811.2(HSD17B10):c.253G>A (p.Val85Met) rs1211736877
NM_001037811.2(HSD17B10):c.257A>G (p.Asp86Gly) rs587777651
NM_001037811.2(HSD17B10):c.259G>A (p.Val87Ile) rs371014686
NM_001037811.2(HSD17B10):c.364C>G (p.Leu122Val) rs28935476
NM_001037811.2(HSD17B10):c.388C>T (p.Arg130Cys) rs28935475
NM_001037811.2(HSD17B10):c.568+6C>A rs122462164
NM_001037811.2(HSD17B10):c.607A>G (p.Lys203Glu) rs886041974
NM_001037811.2(HSD17B10):c.713A>G (p.Asn238Ser) rs122461163
NM_001037811.2(HSD17B10):c.718G>C (p.Glu240Gln) rs62626305
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) rs869025592
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) rs869025588
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) rs869025590
NM_001039591.3(USP9X):c.3028-2A>G rs869025589
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) rs869025591
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) rs369178019
NM_001039591.3(USP9X):c.44del (p.Asn15fs) rs1555917927
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs) rs1555930128
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly)
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter) rs1555932766
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
NM_001042537.1(SLC9A6):c.*8A>T rs200171451
NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del) rs398122849
NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met) rs1556618832
NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp) rs782108464
NM_001042537.1(SLC9A6):c.1185A>C (p.Ala395=) rs142049079
NM_001042537.1(SLC9A6):c.1236+80dup rs35492327
NM_001042537.1(SLC9A6):c.1237-8C>T rs1060504684
NM_001042537.1(SLC9A6):c.1239G>A (p.Leu413=) rs151178361
NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=) rs1556619315
NM_001042537.1(SLC9A6):c.141C>T (p.Gly47=) rs139299794
NM_001042537.1(SLC9A6):c.1463-1G>A rs1603215383
NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp) rs1569525357
NM_001042537.1(SLC9A6):c.148G>T (p.Ala50Ser) rs367724979
NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter) rs122461162
NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=) rs782370742
NM_001042537.1(SLC9A6):c.1616+10A>G rs185533973
NM_001042537.1(SLC9A6):c.1616+4A>G rs180727016
NM_001042537.1(SLC9A6):c.1616+6T>C rs781963949
NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter) rs398123003
NM_001042537.1(SLC9A6):c.1648-3C>T rs563279759
NM_001042537.1(SLC9A6):c.1665_1669del (p.Arg556fs) rs1603219805
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) rs782296172
NM_001042537.1(SLC9A6):c.1728-4G>A rs188072063
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) rs587784398
NM_001042537.1(SLC9A6):c.1899A>T (p.Thr633=) rs782629258
NM_001042537.1(SLC9A6):c.1939A>G (p.Ser647Gly) rs558960349
NM_001042537.1(SLC9A6):c.1A>G (p.Met1Val)
NM_001042537.1(SLC9A6):c.2000T>G (p.Phe667Cys)
NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) rs587784399
NM_001042537.1(SLC9A6):c.227_244del (p.Ile76_Leu81del) rs1603184929
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001042537.1(SLC9A6):c.269T>C (p.Leu90Pro) rs1556614843
NM_001042537.1(SLC9A6):c.362A>G (p.His121Arg) rs1060502675
NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) rs587784400
NM_001042537.1(SLC9A6):c.369G>A (p.Pro123=) rs782600941
NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly) rs587784401
NM_001042537.1(SLC9A6):c.526-9_526-5del rs796053290
NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu) rs1603198044
NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys) rs1556616834
NM_001042537.1(SLC9A6):c.603+3_603+4delinsCC rs730882187
NM_001042537.1(SLC9A6):c.604A>G (p.Arg202Gly) rs796053280
NM_001042537.1(SLC9A6):c.608_609del (p.His203fs) rs730882188
NM_001042537.1(SLC9A6):c.630T>C (p.Ser210=) rs144316388
NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=) rs781961294
NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr) rs796053281
NM_001042537.1(SLC9A6):c.672C>T (p.Phe224=) rs1423014570
NM_001042537.1(SLC9A6):c.680+3A>G rs372679456
NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) rs587784402
NM_001042537.1(SLC9A6):c.705G>A (p.Thr235=) rs782386487
NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile) rs1556616995
NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp) rs1556614701
NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val) rs782677140
NM_001042537.1(SLC9A6):c.847_849CTT[1] (p.Leu284del) rs1603201557
NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del) rs886037619
NM_001042537.1(SLC9A6):c.882del (p.Ala295fs) rs1057519394
NM_001042537.1(SLC9A6):c.899+1G>A rs1556617455
NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu) rs1016216648
NM_001042537.1(SLC9A6):c.900-6C>T rs17001258
NM_001042537:c.916delC
NM_001077188.2(HS6ST2):c.916G>C (p.Gly306Arg) rs866919041
NM_001079872.1(CUL4B):c.951_953TAT[1] (p.Ile319del) rs1556214312
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs) rs1602577238
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter) rs905353542
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
NM_001079872.2(CUL4B):c.1741+4_1741+7del rs1569389364
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro) rs797045018
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile) rs1569441509
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser) rs1603326578
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys) rs1556036052
NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly)
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp) rs1603255389
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile) rs1556024875
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp) rs1556023928
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu) rs1603252573
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys) rs1556302160
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr) rs797045021
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys) rs1603246794
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr) rs1556017474
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro) rs797045020
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp) rs1603242504
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys) rs1603242447
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu) rs1556015593
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly) rs1556015553
NM_001081550.2(THOC2):c.3503+4A>C rs1556015437
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr) rs1556014935
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001081550.2(THOC2):c.4450-2A>G rs1556005930
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg) rs1603229932
NM_001081550.2(THOC2):c.4678-572_*18+1195del
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe) rs797045019
NM_001086521.2(NDUFAF8):c.165C>G (p.Phe55Leu) rs1598368033
NM_001086521.2(NDUFAF8):c.195+271C>T rs745332456
NM_001086521.2(NDUFAF8):c.1A>G (p.Met1Val) rs1318084629
NM_001086521.2(NDUFAF8):c.45_52dup (p.Phe18fs) rs1598367619
NM_001097642.2(GJB1):c.-16-475C>G
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=) rs1057522072
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223
NM_001110556.2(FLNA):c.1065+1G>T
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
NM_001110556.2(FLNA):c.108G>A (p.Ala36=) rs782572024
NM_001110556.2(FLNA):c.108_110GGA[1] (p.Glu37del)
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr) rs781805670
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met) rs201681328
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn) rs782090266
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
NM_001110556.2(FLNA):c.1170C>A (p.Gly390=) rs1603362865
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met) rs781827791
NM_001110556.2(FLNA):c.1229-8C>T rs376190976
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg) rs1569551930
NM_001110556.2(FLNA):c.1260C>T (p.Ile420=) rs1351119633
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr) rs782649138
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
NM_001110556.2(FLNA):c.1365C>A (p.Thr455=) rs782726997
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met) rs782495199
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys)
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu) rs782434140
NM_001110556.2(FLNA):c.141C>T (p.Asn47=) rs1603363922
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125
NM_001110556.2(FLNA):c.1429+8C>T rs202181557
NM_001110556.2(FLNA):c.1429+9G>A rs782226711
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) rs782682232
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val) rs782262202
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp) rs868994092
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu) rs143873938
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294
NM_001110556.2(FLNA):c.1608C>T (p.Gly536=)
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys) rs1557178932
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=) rs782376419
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His) rs781852373
NM_001110556.2(FLNA):c.168C>G (p.His56Gln) rs1569551928
NM_001110556.2(FLNA):c.1691+7C>A rs199565118
NM_001110556.2(FLNA):c.1692-10G>A rs199740539
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile) rs200673062
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu) rs1603362453
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly) rs1603362451
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp) rs200116438
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=) rs781821848
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434
NM_001110556.2(FLNA):c.1828+3A>G rs368041880
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322
NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn)
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn) rs782718606
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His) rs782038837
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=) rs782136908
NM_001110556.2(FLNA):c.1932C>T (p.Ala644=) rs1221420896
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly) rs1249111377
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr) rs1569551926
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His) rs1271495778
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly) rs374295965
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val) rs374295965
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2001C>T (p.Pro667=) rs782344845
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=) rs1557178734
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.2023-5G>A rs782694533
NM_001110556.2(FLNA):c.2023-6C>T rs372021340
NM_001110556.2(FLNA):c.2023-8C>T rs587780335
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg) rs781798819
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His) rs924631524
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342