ClinVar Miner

List of variants studied for X-linked disease

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11994
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HGVS dbSNP
1567del9
1685del36
2606-2623del
4245del6, 4241G>A
ABCD1, 2-BP DEL, 2177TA
ABCD1, IVS1DS, G-A, -1
AFF2, 121- to 145-KB DEL
AJ298105.1:g.61273_107768delins6086
ARHGEF6, IVS1AS, T-C, -11
ARX, 32-BP DEL, NT420
ARX, ARG2085HIS
ARX, EX1-2DEL
ATP7A, EX3-4 DEL
ATRX, IVSAS, T-A, -10
AVPR2, 1-BP INS
AVPR2, 1-BP INS, 804G
BCOR, 60-KB DEL
BCOR, EX9-15DEL
CACNA1F, 1-BP DEL, 4548C
CACNA1F, 1-BP INS, 991C
CD40LG, 1-BP INS, TTT-TTTT, FS84TER
CD40LG, 10-BP DEL
CD40LG, 63-BP DEL
CD40LG, 8-BP DEL
CD40LG, ALU INS, EX1
CD40LG, THR211ASP
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
CHM, 1-BP DEL, GGA146GA, FS159TER
CHM, L1 INS
CLCN4, 13-BP DEL
CLCN4, ARG718TRP
COL4A5 insertion
COL4A5, 10-15-KB INS, 40-KB DEL
COL4A5, 3-PRIME AND PARTIAL 5-PRIME DELETION
COL4A5, 38-KB DEL
COL4A5, 450-KB DEL
COL4A5, CYS108SER
COL4A5, EX5-10DEL
COL4A5:c.142-?_231+?del(p.Gly48_Lys77del)
COL4A5:c.2510-?_2677+?del (p.Gly837_Gly893delinsGly)
COL4A5:c.3554-?_3604+?del (p.?)
COL4A5:c.3791-?_3924+?del (p.?)
COL4A5:c.82-?_141+?del (p.Ala28_Lys47del)
DCX, IVS4, G-A, +1
DLAT, 3-BP DEL, 361GAA
DLG3, IVS6DS, G-A, +5
DLG3, IVS8DS, G-A, +1
EDA, 1-BP DEL, EX6
EDA, 36-BP DEL, EX5
EFNB1, EX2-5DEL
EMD, 1-BP DEL, FS236TER
EMD, 2-BP DEL, NT564
EMD, 2-BP INS, NT198
EMD, 29-BP DEL, NT113
EMD, 5-BP DEL, NT631
EMD, IVSAS, A-G, -3, 214-BP INS
F8, 1-BP DEL
F8, 1-BP INS, A
F8, 1-BP INS, A, CODON 1414
F8, 10-BP INS, FS
F8, 11-BP DEL, FS
F8, 2-BP DEL, EX8
F8, 2-BP DEL, GA
F8, 2-BP, INS, FS
F8, 23-BP DEL, FS
F8, 3-BP DEL, PHE652DEL
F8, 3-BP DEL, PRO220 DEL
F8, 89-BP DEL, FS
F8, ALU INS
F8, EX1-22DEL
F8, EX1-26DEL
F8, EX1-5DEL
F8, EX1-6DEL
F8, EX10DEL
F8, EX11-18DEL
F8, EX13DUP
F8, EX14-21DEL
F8, EX14-22DEL
F8, EX14DEL
F8, EX15-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX16-26DEL
F8, EX16DEL
F8, EX18-19DEL
F8, EX19-21DEL
F8, EX1DEL
F8, EX2-3DEL
F8, EX2-4DEL
F8, EX22DEL
F8, EX23-24DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX24-25DEL
F8, EX26DEL
F8, EX3-13DEL
F8, EX3-5DEL
F8, EX3DEL
F8, EX4-10DEL
F8, EX4-25DEL
F8, EX5-13DEL
F8, EX5-6 DEL
F8, EX5DEL
F8, EX6DEL
F8, EX7-14DEL
F8, EX7-9DEL
F8, GLU161TER
F8, IVS10AS, G-T, +1
F8, IVS12DS, G-A, +5
F8, IVS14AS, A-G, -2
F8, IVS16DS, G-A, -1
F8, IVS22 INV
F8, IVS4AS, A-G, -2
F8, IVS5AS, A-G, -2
F8, IVS6AS, G-C, -1
F8, IVS6DS, A-G, +3
F8, IVS6DS, A-G, +3, 186-BP DEL, EX5-6 DEL
F8, LINE INS, EX14
FGD1, 1-BP DEL, 2189A
FGD1, 1-BP INS, 2122G
FGD1, EX9-12DEL
FMR1, (CGG)n REPEAT EXPANSION
FOXG1, 1-BP DEL, 969C
FOXG1, 1-BP DUP, 460G
FTSJ1, EX9DEL
FTSJ1, IVS2, G DEL, +1
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GPR143, 14-BP DEL, NT816
GPR143, 17-BP DEL
GPR143, 2-BP INS, NT992
GPR143, 420G-A
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
GRCh37/hg19 Xp22.31(chrX:6497085-7910475)
GRCh37/hg19 Xp22.31(chrX:6497085-8135053)
GRCh37/hg19 Xp22.31(chrX:6696168-7396902)
GRCh37/hg19 Xq13.3(chrX:74641546-74744601)
GRCh37/hg19 Xq21.1(chrX:77238734-77312616)
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq25(chrX:122970459-123034511)
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
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
IL1RAPL1, EX2-5DEL
KLHL15, 1-BP DEL
KLHL15, 22.5-KB DEL
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
MID1, 24-BP DUP
MID1, EX1 DUP
NC_000002.11:g.(?_175427255)_(175450321_?)dup
NC_000002.12:g.206159485A>C
NC_000002.12:g.227164206G>A
NC_000002.12:g.227164546C>T
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.(22051242_22056586)_(22056656_22065167)del
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del
NC_000023.10:g.(22208620_22231047)_(22266070_?)del
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del
NC_000023.10:g.(?_107681416)_(107939608_?)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.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)dup
NC_000023.10:g.(?_153008421)_(153009209_?)del
NC_000023.10:g.(?_153128108)_(153609567_?)dup
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.(?_153577217)_(153609557_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NC_000023.10:g.(?_153587342)_(153609567_?)dup
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153609093)_(153609182_?)del
NC_000023.10:g.(?_154379237)_(154381523_?)del
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.(?_22051124)_(22051242_22056586)del
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_25013922)_(25025556_?)dup
NC_000023.10:g.(?_25022767)_(25033874_?)dup
NC_000023.10:g.(?_25028377)_(25033854_?)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.(?_48542223)_(48549573_?)dup
NC_000023.10:g.(?_48542233)_(48542384_?)del
NC_000023.10:g.(?_48549478)_(48549573_?)dup
NC_000023.10:g.(?_53263381)_(53449569_?)dup
NC_000023.10:g.(?_68836133)_(69255479_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)del
NC_000023.10:g.(?_68890034)_(69177002_?)dup
NC_000023.10:g.(?_69080668)_(69177002_?)del
NC_000023.10:g.(?_69080668)_(69177002_?)dup
NC_000023.10:g.(?_69243048)_(69255479_?)del
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.12515801_12581900del
NC_000023.10:g.153296106_153296275delins[NC_000008.10:g.50305003_50392184inv;TTACACAG]
NC_000023.10:g.153296228_153298081del
NC_000023.10:g.22148200_22250155dup
NC_000023.10:g.22256748_22370988del114241
NC_000023.10:g.85296959_85303375inv
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.(134493178_134493182)_(134501172_134501176)del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NC_000023.11:g.(154776372_154776374)_(154778317_154778319)del
NC_000023.11:g.(155246216_?)_(?_155288781)del
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)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.(?_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.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124365741)_(124371411_?)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.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136648058)_(136659435_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
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.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NC_000023.11:g.(?_30304579)_(30309363_?)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.(?_69616289)_(69616724_?)del
NC_000023.11:g.(?_69616289)_(69670280_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)del
NC_000023.11:g.(?_69957007)_(69957152_?)dup
NC_000023.11:g.(?_69957017)_(69957142_?)del
NC_000023.11:g.(?_70035338)_(70035629_?)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.154931533_154938436del
NC_000023.11:g.38369877del
NC_000023.11:g.48681722_48688043inv
NC_000023.11:g.48686084_48686085del
NC_000023.9:g.146703942_146820448del
NC_000023.9:g.9688757-?_9693917+?del
NDP, 1-BP DEL
NEXMIF, 70-KB DUP
NG_008292.1:g.700375-?_1335033+?del
NG_008872.1(OFD1):g.[16740_20819del;g.20987_21000del]
NG_008960.1:g.224486-?_245539+?del
NG_009095.2:g.(16929_16947)_(21383_21401)del
NG_011641.2:g.113607_113608insSVA
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NG_013224.2:g.(?_4960)_(103567_105489)dup
NG_013368.1:g.5604_20276del
NG_016754.1:g.5000-?_5105+?del
NG_042874.1(ACD)::g.5474del rs753666055
NG_042874.1:g.5453G>A
NG_042874.1:g.5456C>T
NG_042874.1:g.5499C>T rs73597595
NM_000032.4(ALAS2):c.-258C>G rs140772352
NM_000032.5(ALAS2):c.*124C>T
NM_000032.5(ALAS2):c.*56A>C rs6612250
NM_000032.5(ALAS2):c.-16+6A>G
NM_000032.5(ALAS2):c.-34C>T rs780642606
NM_000032.5(ALAS2):c.1062C>G (p.Thr354=) rs201740830
NM_000032.5(ALAS2):c.1092G>A (p.Leu364=) rs150494562
NM_000032.5(ALAS2):c.1107C>T (p.Gly369=) rs368764287
NM_000032.5(ALAS2):c.110G>A (p.Arg37His)
NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser) rs137852300
NM_000032.5(ALAS2):c.1167T>G (p.Leu389=) rs140584437
NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr) rs137852307
NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys) rs137852305
NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg) rs758646032
NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys) rs760790600
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) rs765603040
NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys) rs137852311
NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn) rs137852299
NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln) rs141305388
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000032.5(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr) rs199826743
NM_000032.5(ALAS2):c.1570C>G (p.His524Asp) rs137852309
NM_000032.5(ALAS2):c.1626G>A (p.Ala542=) rs6612251
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1676G>A (p.Arg559His) rs145704441
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly) rs137852306
NM_000032.5(ALAS2):c.1702_1705AGTG[1] (p.Glu569fs) rs387906472
NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe) rs201799139
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860
NM_000032.5(ALAS2):c.231C>A (p.Leu77=) rs760900782
NM_000032.5(ALAS2):c.282A>G (p.Glu94=) rs150313977
NM_000032.5(ALAS2):c.416-11T>C rs977637650
NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn) rs137852308
NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr) rs137852308
NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu) rs137852301
NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) rs1557248142
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304
NM_000032.5(ALAS2):c.569A>T (p.Asp190Val) rs28935484
NM_000032.5(ALAS2):c.595T>C (p.Tyr199His) rs137852310
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183
NM_000032.5(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000032.5(ALAS2):c.824-15C>T rs727467
NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser) rs137852302
NM_000032.5(ALAS2):c.895A>C (p.Lys299Gln) rs137852303
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.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.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.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.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.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.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.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.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.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.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.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.1876G>A (p.Ala626Thr) rs1557055316
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>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.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.1950G>A (p.Ala650=)
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
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.2003C>T (p.Thr668Ile) rs1557055398
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.2076G>A (p.Leu692=) rs1557055415
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.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.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.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.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.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.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.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.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.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>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.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.994C>T (p.Gln332Ter)
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000047.2(ARSL):c.119T>G (p.Ile40Ser) rs80338710
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.2(ARSL):c.1270G>A (p.Gly424Ser) rs35143646
NM_000047.2(ARSL):c.1442C>T (p.Thr481Met) rs80338713
NM_000047.2(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) rs61733256
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser) rs28935474
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000047.2(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.2(ARSL):c.337C>T (p.Leu113Phe) rs145946864
NM_000047.2(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) rs80338711
NM_000047.2(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.2(ARSL):c.430+8C>T rs56393981
NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) rs41310272
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.2(ARSL):c.549C>T (p.Arg183=) rs5982618
NM_000047.2(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.2(ARSL):c.775C>G (p.His259Asp) rs138149353
NM_000047.2(ARSL):c.78A>G (p.Ala26=) rs35718384
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.-14_-13GA[3] rs200332753
NM_000047.3(ARSL):c.1158del (p.Ile387fs)
NM_000047.3(ARSL):c.1289+9C>T rs375386476
NM_000047.3(ARSL):c.1386C>T (p.His462=) rs183018622
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) rs61743737
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612
NM_000047.3(ARSL):c.23+5G>C rs200062390
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.714C>T (p.Leu238=) rs34795651
NM_000047.3(ARSL):c.840G>A (p.Ala280=) rs772678789
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739
NM_000047.3(ARSL):c.898G>A (p.Val300Ile) rs752354785
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.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.1327A>G (p.Thr443Ala)
NM_000052.7(ATP7A):c.1355del (p.Val452fs) rs797045329
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.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.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.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.2131G>A (p.Val711Ile) rs782268170
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter) rs797045346
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.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.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.2576A>G (p.Asp859Gly)
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.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.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.2972C>A (p.Ala991Asp) rs1557236729
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
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>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.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.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.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.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.4267C>A (p.Arg1423=) rs149079962
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.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.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.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.673A>G (p.Met225Val) rs782619990
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277
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.963T>C (p.Tyr321=) rs1557231829
NM_000054.6(AVPR2):c.*119G>A rs782425427
NM_000054.6(AVPR2):c.*129C>T rs782022257
NM_000054.6(AVPR2):c.*136T>G rs782141948
NM_000054.6(AVPR2):c.*190A>C
NM_000054.6(AVPR2):c.*204C>T rs184401408
NM_000054.6(AVPR2):c.*257G>A rs73627263
NM_000054.6(AVPR2):c.*282G>A rs782404692
NM_000054.6(AVPR2):c.*320G>A
NM_000054.6(AVPR2):c.*326A>C
NM_000054.6(AVPR2):c.-48G>C rs782204150
NM_000054.6(AVPR2):c.1009C>T (p.Arg337Ter) rs104894753
NM_000054.6(AVPR2):c.1017G>A (p.Leu339=) rs149557877
NM_000054.6(AVPR2):c.102del (p.Leu35fs) rs1569545523
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208
NM_000054.6(AVPR2):c.105G>A (p.Leu35=) rs5197
NM_000054.6(AVPR2):c.1113G>A (p.Ser371=) rs5203
NM_000054.6(AVPR2):c.117G>A (p.Ala39=) rs374487946
NM_000054.6(AVPR2):c.125C>T (p.Ala42Val) rs5198
NM_000054.6(AVPR2):c.126G>A (p.Ala42=)
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) rs61748993
NM_000054.6(AVPR2):c.137T>A (p.Ile46Lys) rs104894759
NM_000054.6(AVPR2):c.174G>A (p.Val58=) rs201810684
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) rs140156037
NM_000054.6(AVPR2):c.191_199GGCGGGGCC[1] (p.64_66RRG[1]) rs782292545
NM_000054.6(AVPR2):c.19A>T (p.Thr7Ser) rs5196
NM_000054.6(AVPR2):c.213G>A (p.Trp71Ter) rs104894751
NM_000054.6(AVPR2):c.24del (p.Ala9fs) rs1557100304
NM_000054.6(AVPR2):c.253G>A (p.Asp85Asn) rs104894754
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.6(AVPR2):c.311G>A (p.Arg104His)
NM_000054.6(AVPR2):c.313T>G (p.Phe105Val) rs104894758
NM_000054.6(AVPR2):c.317G>A (p.Arg106His)
NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000054.6(AVPR2):c.337C>T (p.Arg113Trp) rs28935496
NM_000054.6(AVPR2):c.35G>A (p.Gly12Glu) rs2071126
NM_000054.6(AVPR2):c.382_384del (p.Tyr128del) rs1557100594
NM_000054.6(AVPR2):c.388A>T (p.Ile130Phe) rs796052096
NM_000054.6(AVPR2):c.395C>A (p.Ala132Asp) rs104894747
NM_000054.6(AVPR2):c.410G>A (p.Arg137His) rs104894756
NM_000054.6(AVPR2):c.416G>A (p.Arg139His)
NM_000054.6(AVPR2):c.428G>A (p.Arg143His)
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) rs5200
NM_000054.6(AVPR2):c.485T>C (p.Val162Ala)
NM_000054.6(AVPR2):c.541C>T (p.Arg181Cys) rs104894757
NM_000054.6(AVPR2):c.546C>T (p.Asn182=) rs13306213
NM_000054.6(AVPR2):c.553G>T (p.Gly185Cys) rs104894748
NM_000054.6(AVPR2):c.602G>A (p.Gly201Asp) rs104894755
NM_000054.6(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000054.6(AVPR2):c.614A>G (p.Tyr205Cys) rs104894749
NM_000054.6(AVPR2):c.643G>A (p.Val215Met) rs112109182
NM_000054.6(AVPR2):c.69C>T (p.Ser23=) rs377144623
NM_000054.6(AVPR2):c.734G>C (p.Gly245Ala)
NM_000054.6(AVPR2):c.738del (p.Arg247fs) rs781942628
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000054.6(AVPR2):c.742C>T (p.Arg248Cys)
NM_000054.6(AVPR2):c.744_755del (p.Arg249_Arg252del) rs782681085
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) rs61733407
NM_000054.6(AVPR2):c.769G>A (p.Gly257Ser)
NM_000054.6(AVPR2):c.784G>A (p.Val262Met) rs1557100878
NM_000054.6(AVPR2):c.797T>C (p.Val266Ala) rs111643041
NM_000054.6(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000054.6(AVPR2):c.81G>T (p.Arg27Ser)
NM_000054.6(AVPR2):c.837C>G (p.Val279=)
NM_000054.6(AVPR2):c.839A>G (p.Tyr280Cys) rs104894752
NM_000054.6(AVPR2):c.878G>A (p.Trp293Ter) rs1064797077
NM_000054.6(AVPR2):c.886T>C (p.Trp296Arg) rs886041110
NM_000054.6(AVPR2):c.927A>G (p.Leu309=) rs5201
NM_000054.6(AVPR2):c.966del (p.Trp323fs) rs886040961
NM_000054.6(AVPR2):c.993C>T (p.Ser331=) rs5202
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.2(CD40LG):c.148T>C (p.Leu50=) rs1126535
NM_000074.2(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.2(CD40LG):c.288+1G>A rs1569376229
NM_000074.2(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.2(CD40LG):c.322_325delGAAA rs1569376930
NM_000074.2(CD40LG):c.330C>A (p.Ser110Arg) rs368691563
NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.2(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.2(CD40LG):c.379A>G (p.Ile127Val) rs1052924444
NM_000074.2(CD40LG):c.38C>T (p.Ala13Val) rs368003929
NM_000074.2(CD40LG):c.403_405delACA rs1490893550
NM_000074.2(CD40LG):c.410-13T>C rs3092923
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.2(CD40LG):c.421G>C (p.Ala141Pro) rs1387503550
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.2(CD40LG):c.508_510delTAT rs1603321765
NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.2(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.2(CD40LG):c.684A>G (p.Val228=) rs11575983
NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser) rs1569377884
NM_000074.2(CD40LG):c.7G>A (p.Glu3Lys) rs1350282799
NM_000074.2(CD40LG):c.81A>G (p.Leu27=) rs36063307
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile)
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086
NM_000074.3(CD40LG):c.347-1G>A
NM_000074.3(CD40LG):c.359del (p.Pro120fs) rs1603321138
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) rs148581967
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
NM_000074.3(CD40LG):c.410-3_410-2del rs1603321716
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu)
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)
NM_000091.4(COL4A3):c.*1000C>T rs770149608
NM_000091.4(COL4A3):c.*1032G>A rs886055744
NM_000091.4(COL4A3):c.*1069_*1070del rs11297279
NM_000091.4(COL4A3):c.*1069_*1070dup rs11297279
NM_000091.4(COL4A3):c.*1070del rs11297279
NM_000091.4(COL4A3):c.*1070dup rs11297279
NM_000091.4(COL4A3):c.*1071G>A rs866036167
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*1645del rs886055747
NM_000091.4(COL4A3):c.*1663G>C rs56030607
NM_000091.4(COL4A3):c.*1681A>G rs78758928
NM_000091.4(COL4A3):c.*1739C>T rs750139996
NM_000091.4(COL4A3):c.*1764A>G rs577379452
NM_000091.4(COL4A3):c.*177A>G rs139638980
NM_000091.4(COL4A3):c.*1918T>C rs767668198
NM_000091.4(COL4A3):c.*2048C>G rs886055748
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2180C>T rs886055749
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2272T>C rs886055750
NM_000091.4(COL4A3):c.*2308T>C rs886055751
NM_000091.4(COL4A3):c.*2452T>C rs4470338
NM_000091.4(COL4A3):c.*2652G>A rs57817160
NM_000091.4(COL4A3):c.*2742C>T rs59257065
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*286C>T rs6436677
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*406G>A rs759265728
NM_000091.4(COL4A3):c.*589C>T rs55698424
NM_000091.4(COL4A3):c.*595A>T rs56123646
NM_000091.4(COL4A3):c.*647T>G rs183552783
NM_000091.4(COL4A3):c.*660T>C rs557009121
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.*981C>T rs1134745
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-26G>T rs747049729
NM_000091.4(COL4A3):c.-81G>C rs886055735
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.1256C>A (p.Ser419Tyr) rs201031986
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854
NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.4(COL4A3):c.1423C>G (p.Leu475Val) rs886055738
NM_000091.4(COL4A3):c.1483C>T (p.His495Tyr) rs200510532
NM_000091.4(COL4A3):c.1516G>A (p.Ala506Thr) rs188967260
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1928-4T>C rs376327706
NM_000091.4(COL4A3):c.2021-9G>C rs773021303
NM_000091.4(COL4A3):c.221C>T (p.Pro74Leu) rs373975901
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.2489-8G>A rs201846272
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.2747-11C>A rs886055739
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2881+6G>T rs886055740
NM_000091.4(COL4A3):c.3196C>T (p.Pro1066Ser) rs377003650
NM_000091.4(COL4A3):c.3228G>A (p.Pro1076=) rs200125890
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.3419-14T>G rs116133488
NM_000091.4(COL4A3):c.3419-8T>G rs754483986
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500
NM_000091.4(COL4A3):c.386A>C (p.Lys129Thr) rs886055737
NM_000091.4(COL4A3):c.3882+10G>A rs78980950
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4100G>C (p.Gly1367Ala) rs886055742
NM_000091.4(COL4A3):c.4153+10T>C rs865866667
NM_000091.4(COL4A3):c.4253-14T>C rs747386514
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4691C>T (p.Thr1564Ile) rs886055743
NM_000091.4(COL4A3):c.4756-13A>T rs190701197
NM_000091.4(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.686G>T (p.Arg229Leu) rs188942711
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.4(COL4A3):c.71C>G (p.Ala24Gly) rs184704920
NM_000091.5(COL4A3):c.*1238T>C
NM_000091.5(COL4A3):c.*1322T>A
NM_000091.5(COL4A3):c.*1340T>C
NM_000091.5(COL4A3):c.*1360T>A
NM_000091.5(COL4A3):c.*1612A>G
NM_000091.5(COL4A3):c.*1634G>C
NM_000091.5(COL4A3):c.*1639G>A
NM_000091.5(COL4A3):c.*1869C>A
NM_000091.5(COL4A3):c.*2087A>T
NM_000091.5(COL4A3):c.*2266A>G
NM_000091.5(COL4A3):c.*2565T>C
NM_000091.5(COL4A3):c.*261A>T
NM_000091.5(COL4A3):c.*2795T>C
NM_000091.5(COL4A3):c.*2836A>G
NM_000091.5(COL4A3):c.*2853A>C
NM_000091.5(COL4A3):c.*287G>A
NM_000091.5(COL4A3):c.*387A>C
NM_000091.5(COL4A3):c.*454G>T
NM_000091.5(COL4A3):c.*459T>C
NM_000091.5(COL4A3):c.*501T>C
NM_000091.5(COL4A3):c.*656T>A
NM_000091.5(COL4A3):c.*969G>A
NM_000091.5(COL4A3):c.-10C>T
NM_000091.5(COL4A3):c.1031C>T (p.Thr344Ile)
NM_000091.5(COL4A3):c.1150+4T>A
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.5(COL4A3):c.1238C>A (p.Ala413Asp)
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374
NM_000091.5(COL4A3):c.144+12C>A rs1882435
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.5(COL4A3):c.1505-11T>C rs115757151
NM_000091.5(COL4A3):c.1505-12G>A
NM_000091.5(COL4A3):c.1508G>A (p.Arg503Lys)
NM_000091.5(COL4A3):c.1576-15T>G rs56243460
NM_000091.5(COL4A3):c.1576-6C>T
NM_000091.5(COL4A3):c.1637C>T (p.Pro546Leu)
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.1802C>T (p.Pro601Leu)
NM_000091.5(COL4A3):c.1849G>A (p.Gly617Ser)
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.1912C>T (p.Pro638Ser)
NM_000091.5(COL4A3):c.2125+13T>C
NM_000091.5(COL4A3):c.2282G>A (p.Arg761Lys) rs747356302
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2656+12T>A
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.2887G>A (p.Ala963Thr)
NM_000091.5(COL4A3):c.2919C>T (p.Gly973=)
NM_000091.5(COL4A3):c.3032G>A (p.Arg1011His)
NM_000091.5(COL4A3):c.3182G>A (p.Gly1061Asp) rs202078295
NM_000091.5(COL4A3):c.3211-13G>A
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3518-15G>C
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
NM_000091.5(COL4A3):c.3751+7G>A rs750554079
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.5(COL4A3):c.388-15T>C
NM_000091.5(COL4A3):c.3956-8_3956-5del rs779522146
NM_000091.5(COL4A3):c.3995C>G (p.Pro1332Arg)
NM_000091.5(COL4A3):c.4027+11G>T
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.5(COL4A3):c.4059T>C (p.Ile1353=) rs374672854
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000091.5(COL4A3):c.4501C>A (p.Pro1501Thr)
NM_000091.5(COL4A3):c.4677C>T (p.Ala1559=)
NM_000091.5(COL4A3):c.4678G>A (p.Val1560Ile)
NM_000091.5(COL4A3):c.468+9T>C rs754471166
NM_000091.5(COL4A3):c.4700T>G (p.Ile1567Ser) rs371452712
NM_000091.5(COL4A3):c.4712C>T (p.Pro1571Leu)
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.513C>T (p.Gly171=)
NM_000091.5(COL4A3):c.573T>C (p.Pro191=) rs375503109
NM_000091.5(COL4A3):c.610-11G>A
NM_000091.5(COL4A3):c.717A>G (p.Gly239=)
NM_000091.5(COL4A3):c.766-13G>A rs77431913
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.5(COL4A3):c.828+9T>C
NM_000091.5(COL4A3):c.829-15C>T
NM_000091.5(COL4A3):c.865G>A (p.Ala289Thr)
NM_000091.5(COL4A3):c.87+7G>T rs1358691399
NM_000091.5(COL4A3):c.870T>C (p.Pro290=)
NM_000091.5(COL4A3):c.88-4C>T rs148393022
NM_000091.5(COL4A3):c.922C>T (p.Pro308Ser)
NM_000091.5(COL4A3):c.933+14T>C rs55928538
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*1073del rs149522920
NM_000092.4(COL4A4):c.*1112G>A rs886055717
NM_000092.4(COL4A4):c.*1242C>T rs886055716
NM_000092.4(COL4A4):c.*128G>A rs886055722
NM_000092.4(COL4A4):c.*1346T>C rs55869005
NM_000092.4(COL4A4):c.*1349A>C rs886055715
NM_000092.4(COL4A4):c.*1423T>C rs886055714
NM_000092.4(COL4A4):c.*1687T>G rs538453112
NM_000092.4(COL4A4):c.*1802T>A rs886055713
NM_000092.4(COL4A4):c.*1914A>T rs886055712
NM_000092.4(COL4A4):c.*2033G>A rs886055711
NM_000092.4(COL4A4):c.*2069T>C rs886055710
NM_000092.4(COL4A4):c.*2119_*2120dup rs56983325
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*2120dup rs56983325
NM_000092.4(COL4A4):c.*2259G>A rs886055708
NM_000092.4(COL4A4):c.*22C>A rs562265530
NM_000092.4(COL4A4):c.*2311C>T rs77079951
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*2945T>C rs886055707
NM_000092.4(COL4A4):c.*3159C>A rs559222889
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*321A>G rs886055721
NM_000092.4(COL4A4):c.*3269A>G rs185029960
NM_000092.4(COL4A4):c.*3299A>G rs886055706
NM_000092.4(COL4A4):c.*3410_*3411del rs528949461
NM_000092.4(COL4A4):c.*3461A>G rs886055705
NM_000092.4(COL4A4):c.*3467C>G rs752632630
NM_000092.4(COL4A4):c.*3636C>T rs147995299
NM_000092.4(COL4A4):c.*3639T>C rs193239835
NM_000092.4(COL4A4):c.*3690A>G rs149243282
NM_000092.4(COL4A4):c.*3712T>G rs535103151
NM_000092.4(COL4A4):c.*3876G>A rs184473858
NM_000092.4(COL4A4):c.*3938A>G rs192161029
NM_000092.4(COL4A4):c.*3940T>C rs886055704
NM_000092.4(COL4A4):c.*3948C>T rs886055703
NM_000092.4(COL4A4):c.*4004_*4005del rs532937469
NM_000092.4(COL4A4):c.*4102dup rs370056635
NM_000092.4(COL4A4):c.*4106C>A rs886055702
NM_000092.4(COL4A4):c.*4135A>T rs886055701
NM_000092.4(COL4A4):c.*4164C>T rs147109071
NM_000092.4(COL4A4):c.*4173A>T rs529259159
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*4369C>T rs886055700
NM_000092.4(COL4A4):c.*4385A>G rs574071910
NM_000092.4(COL4A4):c.*4393G>T rs886055699
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*4534T>C rs767613572
NM_000092.4(COL4A4):c.*4583A>G rs886055698
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*472A>T rs77268230
NM_000092.4(COL4A4):c.*48G>A rs767600758
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*569C>A rs772402371
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.*755T>C rs191394048
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.*833C>T rs886055720
NM_000092.4(COL4A4):c.*841G>A rs11556632
NM_000092.4(COL4A4):c.*857G>A rs80142712
NM_000092.4(COL4A4):c.*863C>G rs886055719
NM_000092.4(COL4A4):c.*864C>G rs886055718
NM_000092.4(COL4A4):c.-101-4A>G rs147186690
NM_000092.4(COL4A4):c.-102+10C>G rs867845285
NM_000092.4(COL4A4):c.-134C>G rs530247030
NM_000092.4(COL4A4):c.-15T>C rs17353916
NM_000092.4(COL4A4):c.-177G>A rs886055730
NM_000092.4(COL4A4):c.-341G>A rs886055731
NM_000092.4(COL4A4):c.-408G>A rs554839865
NM_000092.4(COL4A4):c.-527G>A rs886055732
NM_000092.4(COL4A4):c.-555G>A rs79908084
NM_000092.4(COL4A4):c.-79C>T rs55836847
NM_000092.4(COL4A4):c.102A>G (p.Gln34=) rs3817617
NM_000092.4(COL4A4):c.1205-9A>G rs370706928
NM_000092.4(COL4A4):c.1353C>T (p.Gly451=) rs199511948
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1767T>A (p.Asp589Glu) rs886055727
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1833T>C (p.Gly611=) rs145806603
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.1963C>T (p.Pro655Ser) rs886055726
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2159C>T (p.Pro720Leu) rs749186337
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2335C>G (p.Pro779Ala) rs886055725
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2378C>T (p.Ala793Val) rs377676207
NM_000092.4(COL4A4):c.2399C>G (p.Pro800Arg) rs200714000
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2516C>T (p.Pro839Leu) rs199562472
NM_000092.4(COL4A4):c.2586T>C (p.Pro862=) rs761238651
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-15C>A rs143886681
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2877C>T (p.Pro959=) rs79470996
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3577+14C>T rs370328730
NM_000092.4(COL4A4):c.3770C>T (p.Pro1257Leu) rs755884665
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863
NM_000092.4(COL4A4):c.4725G>A (p.Ala1575=) rs886055724
NM_000092.4(COL4A4):c.4731G>A (p.Ala1577=) rs200639109
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.4857T>C (p.Pro1619=) rs184776061
NM_000092.4(COL4A4):c.4862G>A (p.Ser1621Asn) rs886055723
NM_000092.4(COL4A4):c.4962G>A (p.Thr1654=) rs375911030
NM_000092.4(COL4A4):c.4982T>A (p.Phe1661Tyr) rs374119389
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.4(COL4A4):c.666G>A (p.Pro222=) rs111945121
NM_000092.4(COL4A4):c.680G>A (p.Arg227His) rs368248078
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.816+12A>T rs886055728
NM_000092.4(COL4A4):c.928C>T (p.Arg310Trp) rs200817090
NM_000092.5(COL4A4):c.*1026G>A
NM_000092.5(COL4A4):c.*1064G>C
NM_000092.5(COL4A4):c.*1171C>T
NM_000092.5(COL4A4):c.*1173T>C
NM_000092.5(COL4A4):c.*1190G>A
NM_000092.5(COL4A4):c.*1292A>T
NM_000092.5(COL4A4):c.*1397A>G
NM_000092.5(COL4A4):c.*1464A>T
NM_000092.5(COL4A4):c.*1465T>A
NM_000092.5(COL4A4):c.*1930T>C
NM_000092.5(COL4A4):c.*1960C>A
NM_000092.5(COL4A4):c.*2021A>G
NM_000092.5(COL4A4):c.*222C>G
NM_000092.5(COL4A4):c.*2239T>C
NM_000092.5(COL4A4):c.*2259G>C
NM_000092.5(COL4A4):c.*2422T>C
NM_000092.5(COL4A4):c.*244C>A
NM_000092.5(COL4A4):c.*2487C>A
NM_000092.5(COL4A4):c.*2647C>T
NM_000092.5(COL4A4):c.*2677T>G
NM_000092.5(COL4A4):c.*2732C>T
NM_000092.5(COL4A4):c.*2807T>G
NM_000092.5(COL4A4):c.*2849G>A
NM_000092.5(COL4A4):c.*2855C>T
NM_000092.5(COL4A4):c.*2962A>G
NM_000092.5(COL4A4):c.*3156A>G
NM_000092.5(COL4A4):c.*318T>G
NM_000092.5(COL4A4):c.*3354C>A
NM_000092.5(COL4A4):c.*3397T>C
NM_000092.5(COL4A4):c.*345T>A
NM_000092.5(COL4A4):c.*3791A>C
NM_000092.5(COL4A4):c.*4041A>G
NM_000092.5(COL4A4):c.*4194C>T
NM_000092.5(COL4A4):c.*4347C>T
NM_000092.5(COL4A4):c.*4363G>C
NM_000092.5(COL4A4):c.*4498T>C
NM_000092.5(COL4A4):c.*4545A>G
NM_000092.5(COL4A4):c.*4599T>C
NM_000092.5(COL4A4):c.*491A>G
NM_000092.5(COL4A4):c.*705T>C
NM_000092.5(COL4A4):c.*718G>C
NM_000092.5(COL4A4):c.*747T>C
NM_000092.5(COL4A4):c.*859A>C
NM_000092.5(COL4A4):c.*883C>G
NM_000092.5(COL4A4):c.*888G>A
NM_000092.5(COL4A4):c.*888G>T
NM_000092.5(COL4A4):c.*931C>T
NM_000092.5(COL4A4):c.-102+8G>T
NM_000092.5(COL4A4):c.-2C>T rs2228558
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.1369+15A>C
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1522C>T (p.Pro508Ser)
NM_000092.5(COL4A4):c.15C>T (p.His5=)
NM_000092.5(COL4A4):c.1630C>T (p.His544Tyr) rs745815071
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.5(COL4A4):c.1664C>T (p.Ala555Val)
NM_000092.5(COL4A4):c.1719T>C (p.Pro573=) rs533957132
NM_000092.5(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.5(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.5(COL4A4):c.1914A>G (p.Pro638=)
NM_000092.5(COL4A4):c.1988-3C>T
NM_000092.5(COL4A4):c.2007C>T (p.Asn669=) rs754769010
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val) rs76636743
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.228T>G (p.Ile76Met)
NM_000092.5(COL4A4):c.2384-5T>C rs3769641
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser)
NM_000092.5(COL4A4):c.2860+13C>T
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241
NM_000092.5(COL4A4):c.3150+14G>T
NM_000092.5(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.5(COL4A4):c.3374C>T (p.Ser1125Phe)
NM_000092.5(COL4A4):c.3513C>T (p.Ser1171=)
NM_000092.5(COL4A4):c.354A>G (p.Pro118=)
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3622C>G (p.Leu1208Val)
NM_000092.5(COL4A4):c.3654A>G (p.Pro1218=) rs369708146
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3706+13A>G
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338
NM_000092.5(COL4A4):c.3974-14T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4081+9C>G
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4216+11C>T
NM_000092.5(COL4A4):c.4247G>A (p.Arg1416Lys)
NM_000092.5(COL4A4):c.4291C>T (p.Arg1431Cys)
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.4594C>A (p.His1532Asn)
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=) rs751561029
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
NM_000092.5(COL4A4):c.4947C>T (p.Ser1649=) rs918428666
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000092.5(COL4A4):c.620C>T (p.Ala207Val)
NM_000092.5(COL4A4):c.645G>A (p.Glu215=)
NM_000092.5(COL4A4):c.661C>T (p.Pro221Ser)
NM_000092.5(COL4A4):c.778G>A (p.Val260Ile)
NM_000092.5(COL4A4):c.817-6T>G
NM_000092.5(COL4A4):c.843T>C (p.Val281=)
NM_000092.5(COL4A4):c.88C>T (p.Leu30Phe)
NM_000092.5(COL4A4):c.931-18dup rs746509796
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421
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.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.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.583-3C>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.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_000117.2(EMD):c.-248_*326dup1339
NM_000117.2(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.2(EMD):c.103G>A (p.Glu35Lys) rs782222974
NM_000117.2(EMD):c.110A>T (p.Lys37Met) rs1085307681
NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.2(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.2(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.2(EMD):c.166G>A (p.Ala56Thr) rs1057520579
NM_000117.2(EMD):c.16del (p.Asp6fs) rs1569552076
NM_000117.2(EMD):c.187+1G>T rs794729010
NM_000117.2(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) rs1557182364
NM_000117.2(EMD):c.243C>T (p.Asp81=) rs150757295
NM_000117.2(EMD):c.267C>G (p.Gly89=) rs1201464258
NM_000117.2(EMD):c.276C>T (p.Asp92=) rs782680849
NM_000117.2(EMD):c.295T>C (p.Tyr99His) rs781835089
NM_000117.2(EMD):c.353G>A (p.Arg118His) rs782201984
NM_000117.2(EMD):c.355C>A (p.Gln119Lys) rs398123157
NM_000117.2(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.2(EMD):c.400G>A (p.Val134Met) rs201250825
NM_000117.2(EMD):c.412G>A (p.Asp138Asn) rs782737897
NM_000117.2(EMD):c.427_429delTCT rs1557182551
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.2(EMD):c.432A>G (p.Glu144=) rs377125466
NM_000117.2(EMD):c.444G>A (p.Lys148=) rs781889750
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
NM_000117.2(EMD):c.449+5G>A rs370840449
NM_000117.2(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.2(EMD):c.450-2A>G rs398123158
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.459C>T (p.Pro153=) rs782147479
NM_000117.2(EMD):c.466G>A (p.Gly156Ser) rs144594695
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.2(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.2(EMD):c.502C>T (p.Arg168Cys) rs886044839
NM_000117.2(EMD):c.503G>A (p.Arg168His) rs898460509
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.2(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.2(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.2(EMD):c.608G>A (p.Arg203His) rs144842093
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.2(EMD):c.610C>T (p.Arg204Cys) rs782299893
NM_000117.2(EMD):c.611G>A (p.Arg204His) rs782642152
NM_000117.2(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000117.2(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.2(EMD):c.671C>T (p.Pro224Leu) rs782559230
NM_000117.2(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.2(EMD):c.704T>C (p.Phe235Ser) rs782627156
NM_000117.2(EMD):c.717_718delCT rs1603366041
NM_000117.2(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.2(EMD):c.746A>G (p.Glu249Gly) rs781947413
NM_000117.2(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.136C>T (p.Arg46Trp)
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152
NM_000117.3(EMD):c.271A>G (p.Asn91Asp)
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.3(EMD):c.306C>T (p.Thr102=) rs782579799
NM_000117.3(EMD):c.330T>A (p.Ser110=) rs782666989
NM_000117.3(EMD):c.330T>G (p.Ser110=) rs782666989
NM_000117.3(EMD):c.361G>A (p.Val121Met)
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.3(EMD):c.399+10C>T
NM_000117.3(EMD):c.400-9C>T rs782061626
NM_000117.3(EMD):c.413A>G (p.Asp138Gly)
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.712G>A (p.Val238Ile)
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874
NM_000117.3(EMD):c.762C>T (p.Phe254=) rs1603366051
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.77dup (p.Val27fs)
NM_000117.3(EMD):c.82+1G>T rs1557182214
NM_000117.3(EMD):c.83-2A>C
NM_000132.2:c.*8899A>G
NM_000132.3(F8):c.*1166A>G rs984572217
NM_000132.3(F8):c.*1175G>C rs950453657
NM_000132.3(F8):c.*1214G>A rs34700571
NM_000132.3(F8):c.*1416G>T rs186338743
NM_000132.3(F8):c.*1672G>A rs1050705
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.*426G>A rs782273756
NM_000132.3(F8):c.*78C>T rs782435894
NM_000132.3(F8):c.*862A>G rs1057515824
NM_000132.3(F8):c.-157A>G rs1057515826
NM_000132.3(F8):c.1010-27G>A rs7058826
NM_000132.3(F8):c.1010-9T>A rs1603435287
NM_000132.3(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.3(F8):c.102C>T (p.Asp34=) rs1800283
NM_000132.3(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.3(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.3(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.3(F8):c.1063C>T (p.Arg355Ter) rs137852368
NM_000132.3(F8):c.1064G>A (p.Arg355Gln)
NM_000132.3(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.3(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1094A>G (p.Tyr365Cys) rs375241473
NM_000132.3(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.3(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.3(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.3(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.3(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.3(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.3(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.3(F8):c.121G>T (p.Gly41Cys) rs137852379
NM_000132.3(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.3(F8):c.1231G>A (p.Asp411Asn) rs1324147584
NM_000132.3(F8):c.1271+1G>A rs1603435260
NM_000132.3(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.3(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.3(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.3(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.3(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.3(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.3(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.3(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.3(F8):c.1443+5G>A rs1195283929
NM_000132.3(F8):c.1444-22T>C rs5986899
NM_000132.3(F8):c.1444-3C>G rs1603435027
NM_000132.3(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.3(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.3(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.1538-18G>A rs1482306571
NM_000132.3(F8):c.1569G>T (p.Leu523=) rs782733685
NM_000132.3(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.3(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.3(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1648C>T (p.Arg550Cys) rs137852417
NM_000132.3(F8):c.1649G>A (p.Arg550His) rs137852418
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.1666G>A (p.Val556Ile) rs372867215
NM_000132.3(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.3(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.3(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.3(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.3(F8):c.1748A>G (p.Asn583Ser) rs782657516
NM_000132.3(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.3(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.3(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.3(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.3(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.3(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.3(F8):c.1834C>T (p.Arg612Cys) rs137852428
NM_000132.3(F8):c.1866T>C (p.Leu622=) rs1800290
NM_000132.3(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.3(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.3(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.3(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.3(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.3(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.3(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.3(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.3(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.3(F8):c.2113+461_2113+473del rs781928603
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.3(F8):c.2149C>T (p.Arg717Trp) rs137852435
NM_000132.3(F8):c.2150G>A (p.Arg717Gln) rs942909873
NM_000132.3(F8):c.2167G>A (p.Ala723Thr) rs137852436
NM_000132.3(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.3(F8):c.2215G>A (p.Glu739Lys) rs28937285
NM_000132.3(F8):c.2243A>G (p.Tyr748Cys) rs1160871723
NM_000132.3(F8):c.2383A>G (p.Arg795Gly) rs2228152
NM_000132.3(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.3(F8):c.2535C>A (p.Asp845Glu) rs200316756
NM_000132.3(F8):c.266-19G>A rs28370201
NM_000132.3(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.3(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.3(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.3(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.2958_2959AG[2] (p.Ser988fs) rs387906448
NM_000132.3(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.3(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.3(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.3(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.3(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.3(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.3(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.3(F8):c.362_363GT[1] (p.Val122fs) rs387906435
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.3(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.3(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.3(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.3(F8):c.3864A>C (p.Ser1288=) rs1800292
NM_000132.3(F8):c.3885C>G (p.Asn1295Lys) rs201393905
NM_000132.3(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.3(F8):c.389-9C>T rs35621875
NM_000132.3(F8):c.396A>C (p.Glu132Asp) rs137852388
NM_000132.3(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.3(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.3(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.3(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.3(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.3(F8):c.4324_4327AAGA[1] (p.Lys1443fs) rs387906454
NM_000132.3(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.3(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.3(F8):c.4442T>C (p.Leu1481Pro) rs1800294
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.3(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.3(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.3(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.3(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.3(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.3(F8):c.493C>T (p.Pro165Ser) rs137852393
NM_000132.3(F8):c.5012G>A (p.Arg1671His) rs782166477
NM_000132.3(F8):c.5024A>G (p.Gln1675Arg) rs782280813
NM_000132.3(F8):c.5096A>T (p.Tyr1699Phe) rs28935203
NM_000132.3(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) rs111033613
NM_000132.3(F8):c.5123G>A (p.Arg1708His) rs111033614
NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.3(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.3(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.3(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.3(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.3(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.3(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.3(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.3(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.3(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.3(F8):c.5398C>T (p.Arg1800Cys) rs137852443
NM_000132.3(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.3(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.3(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.3(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.3(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000132.3(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.3(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.3(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.3(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.3(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.3(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.3(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.3(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.3(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.3(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.3(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.3(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.3(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.3(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.3(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.3(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.3(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.3(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.3(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.3(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.3(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.3(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.3(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.3(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.3(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.3(F8):c.5950G>C (p.Val1984Leu) rs782504844
NM_000132.3(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.3(F8):c.5954G>A (p.Arg1985Gln) rs1490417405
NM_000132.3(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.3(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.3(F8):c.601+1632G>A rs387906429
NM_000132.3(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.3(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.3(F8):c.601_602insC (p.Gly201fs) rs1603436424
NM_000132.3(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.3(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.3(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.3(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.3(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.3(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.3(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.3(F8):c.6276G>A (p.Val2092=) rs199522131
NM_000132.3(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.3(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.3(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.3(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.3(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.3(F8):c.6371A>G (p.Tyr2124Cys) rs137852459
NM_000132.3(F8):c.6374G>C (p.Ser2125Thr) rs782363141
NM_000132.3(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.3(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.3(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.3(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.3(F8):c.6429+8606G>C rs1603432445
NM_000132.3(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.3(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.3(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.3(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.3(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.3(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.3(F8):c.6544C>T (p.Arg2182Cys) rs137852467
NM_000132.3(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.3(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.3(F8):c.6622C>G (p.Gln2208Glu) rs1472169963
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000132.3(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.3(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.3(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.3(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.3(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.3(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.3(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.3(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.3(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.3(F8):c.6724G>A (p.Val2242Met) rs782654096
NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.3(F8):c.6769A>G (p.Met2257Val) rs1800297
NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.3(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.3(F8):c.6849C>T (p.Ser2283=) rs1319284046
NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.3(F8):c.6871A>G (p.Thr2291Ala) rs139348729
NM_000132.3(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.3(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.3(F8):c.6955C>T (p.Pro2319Ser) rs137852374
NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.3(F8):c.6957G>A (p.Pro2319=) rs200902529
NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) rs137852473
NM_000132.3(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.3(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.3(F8):c.6977G>A (p.Arg2326Gln) rs137852360
NM_000132.3(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.3(F8):c.748A>G (p.Met250Val) rs781943293
NM_000132.3(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.3(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.3(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.3(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.3(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.3(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.3(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.3(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.3(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.3(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.3(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.3(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.3(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.3(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.3(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.3(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.3(F8):c.940A>G (p.Thr314Ala) rs137852406
NM_000132.3(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.3(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.3(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000132.3(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.3(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.*1001C>T
NM_000132.4(F8):c.*1017C>A
NM_000132.4(F8):c.*1362A>T
NM_000132.4(F8):c.*1379A>G
NM_000132.4(F8):c.*1731T>C
NM_000132.4(F8):c.*176G>A
NM_000132.4(F8):c.*288C>A
NM_000132.4(F8):c.*30G>A
NM_000132.4(F8):c.*460G>A
NM_000132.4(F8):c.*908T>G
NM_000132.4(F8):c.*915G>A
NM_000132.4(F8):c.*975A>G
NM_000132.4(F8):c.*992A>G
NM_000132.4(F8):c.1173C>T (p.Arg391=)
NM_000132.4(F8):c.1587A>G (p.Lys529=)
NM_000132.4(F8):c.1830A>G (p.Ile610Met)
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)
NM_000132.4(F8):c.2217G>A (p.Glu739=)
NM_000132.4(F8):c.2299C>T (p.His767Tyr)
NM_000132.4(F8):c.2696G>A (p.Ser899Asn)
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys)
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn)
NM_000132.4(F8):c.3981G>A (p.Thr1327=)
NM_000132.4(F8):c.4411A>G (p.Met1471Val)
NM_000132.4(F8):c.4467C>G (p.Val1489=)
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg)
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu)
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe)
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile)
NM_000132.4(F8):c.793A>G (p.Ile265Val)
NM_000132.4(F8):c.978A>G (p.Leu326=)
NM_000132.4(F8):c.989A>G (p.His330Arg)
NM_000133.3(F9):c.*1157A>G rs1317977313
NM_000133.3(F9):c.1009G>A (p.Ala337Thr) rs137852253
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.3(F9):c.1106T>C (p.Leu369Pro) rs1603267393
NM_000133.3(F9):c.1136G>A (p.Arg379Gln) rs137852259
NM_000133.3(F9):c.1345C>T (p.Arg449Trp) rs757996262
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.3(F9):c.407T>C (p.Ile136Thr) rs1603265481
NM_000133.3(F9):c.520+13A>G rs1603265507
NM_000133.3(F9):c.521-35_723+84del rs1603265760
NM_000133.3(F9):c.572G>A (p.Arg191His) rs137852238
NM_000133.3(F9):c.757G>A (p.Gly253Arg) rs1603267181
NM_000133.3(F9):c.802T>A (p.Cys268Ser) rs1603267194
NM_000133.3(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000133.3(F9):c.845A>G (p.His282Arg) rs753654616
NM_000133.3(F9):c.88+1G>A rs1603263397
NM_000133.3(F9):c.88+5G>T rs1603263401
NM_000133.3(F9):c.881G>A (p.Arg294Gln) rs137852249
NM_000133.3(F9):c.88G>C (p.Val30Leu) rs1603263395
NM_000133.4(F9):c.724-5_731del rs1603267163
NM_000136.3(FANCC):c.996+1056C>A
NM_000136.3(FANCC):c.996+1752A>G
NM_000136.3(FANCC):c.996+979_996+983del
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.-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.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.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.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.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.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.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>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.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.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.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.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.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.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.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.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.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.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.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.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.200G>T (p.Gly67Val) rs1460859456
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.328T>G (p.Cys110Gly) rs104894876
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.362G>T (p.Arg121Leu) rs137852220
NM_000266.4(NDP):c.370C>T (p.Leu124Phe) rs28933684
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000273.3(GPR143):c.104G>A (p.Gly35Asp) rs62635018
NM_000273.3(GPR143):c.223dup (p.Ala75fs) rs672601353
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000273.3(GPR143):c.397T>A (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.397T>C (p.Trp133Arg) rs137852296
NM_000273.3(GPR143):c.455G>A (p.Ser152Asn) rs58933950
NM_000273.3(GPR143):c.548+2T>A
NM_000273.3(GPR143):c.695C>A (p.Thr232Lys) rs137852297
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.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.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)<