ClinVar Miner

List of variants studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6440
Download table as spreadsheet
HGVS dbSNP
ABCD4, 1456G-T
ACSF3, LYS462THR AND GLY465_GLY470 DEL
BTD, 15-BP DEL/11-BP INS
CUBN, IVS6, C-G
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
HLCS, 1-BP DEL, 780G
HMGCL, 930-BP DEL, EX3-6DEL
LMBRD1, 1-BP DEL, 1056G
MMAA, 8-BP INS, NT260
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.11:g.(?_23825336)_(23825435_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000002.12:g.(?_71109950)_(71130239_?)del
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136019910_136021257del
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182810187)_(182810343_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000004.12:g.(?_145639120)_(145642505_?)del
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
NC_000005.10:g.71632121del
NC_000005.9:g.(?_70892097)_(70892201_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000010.11:g.123008921A>T
NC_000010.11:g.123009002G>T
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.10:g.(?_108147260)_(108147400_?)del
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.10:g.108147755C>T
NC_000011.10:g.108147774A>C
NC_000011.10:g.108147787C>T
NC_000011.10:g.108147964G>C
NC_000011.10:g.108148058G>T
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_72083949)_(72084078_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.10:g.(?_101077867)_(101182440_?)dup
NC_000013.11:g.(?_100111821)_(100112081_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000013.11:g.(?_100527655)_(100530186_?)del
NC_000013.11:g.(?_100527665)_(100530447_?)del
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000015.10:g.(?_40418110)_(40418283_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167111_89178323del
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.89178499del
NC_000019.10:g.(?_45553504)_(45553921_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.10:g.39480831G>A rs1600735654
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_012920.1:m.3243A>G rs199474657
NG_008939.1:g.883_8934del8052
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*250C>T rs79179095
NM_000019.3(ACAT1):c.*258G>A rs79764488
NM_000019.3(ACAT1):c.*291A>C rs771132416
NM_000019.3(ACAT1):c.*293A>T rs73559273
NM_000019.3(ACAT1):c.*344T>C rs776705661
NM_000019.3(ACAT1):c.*393A>G rs886047601
NM_000019.3(ACAT1):c.*464A>G rs886047602
NM_000019.3(ACAT1):c.*467_*470dupATCA rs537463051
NM_000019.3(ACAT1):c.*507G>A rs12271846
NM_000019.3(ACAT1):c.*553T>A rs183999318
NM_000019.3(ACAT1):c.*555A>G rs111376037
NM_000019.3(ACAT1):c.*591A>T rs886047604
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*753C>T rs186239800
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.3(ACAT1):c.-70T>A rs566741161
NM_000019.3(ACAT1):c.1006-10_1006-9ins171
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*179T>G rs114728153
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-15C>G rs113348145
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.-28T>A rs36216231
NM_000019.4(ACAT1):c.-5C>T
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1006-1G>A rs1131691567
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1006-2A>C rs145229472
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) rs1591374544
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) rs1591374552
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1059T>G (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val) rs1591374632
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.1163+1G>A
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) rs773491386
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro) rs1184088336
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
NM_000019.4(ACAT1):c.121-13T>A rs1591361903
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) rs1591375843
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) rs1591375882
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) rs1305448140
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
NM_000019.4(ACAT1):c.238+17C>T
NM_000019.4(ACAT1):c.238+8G>T
NM_000019.4(ACAT1):c.239-6dup
NM_000019.4(ACAT1):c.239-7A>G
NM_000019.4(ACAT1):c.239-8T>A rs202030208
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) rs1591362483
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
NM_000019.4(ACAT1):c.334+1G>A rs1591362533
NM_000019.4(ACAT1):c.334+8G>A
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) rs1591363674
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
NM_000019.4(ACAT1):c.370A>G (p.Lys124Glu) rs1591363715
NM_000019.4(ACAT1):c.371A>G (p.Lys124Arg) rs1037467160
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) rs1591363786
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) rs1591363795
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.435+1G>A rs1591363834
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-5C>T rs369472868
NM_000019.4(ACAT1):c.436-7T>C rs775534544
NM_000019.4(ACAT1):c.436-8C>T
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.446del (p.Val149fs) rs1591367375
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) rs1198149157
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) rs1591367422
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr) rs1591367592
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.580-5dup
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) rs1591368724
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) rs1591368794
NM_000019.4(ACAT1):c.64_72+10del
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His) rs1437567292
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) rs1591368826
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu) rs1385465985
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
NM_000019.4(ACAT1):c.72+10G>T
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
NM_000019.4(ACAT1):c.730+1G>A rs1591368919
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.731-46_752del rs1591370141
NM_000019.4(ACAT1):c.731-6T>C
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
NM_000019.4(ACAT1):c.749del (p.Val250fs)
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) rs1591370221
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) rs983216159
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) rs1591370241
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) rs1591370252
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) rs1591360326
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.826+2T>G
NM_000019.4(ACAT1):c.826+5G>T rs1591370366
NM_000019.4(ACAT1):c.826+5_826+9del rs1410743762
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) rs1591371019
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000019.4(ACAT1):c.844A>C (p.Asn282His) rs750195919
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) rs1591360348
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys) rs886041122
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) rs886041122
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.940+2T>C
NM_000019.4(ACAT1):c.941-13T>C
NM_000019.4(ACAT1):c.941-14C>T rs12801620
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.941-9T>A rs980651269
NM_000019.4(ACAT1):c.941-9T>G
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) rs1469248513
NM_000060.2(BTD):c.[1171C>T;1334G>T]
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[133G>A;1271G>C]
NM_000060.2(BTD):c.[133G>A;865G>C]
NM_000060.2(BTD):c.[159C>A;160G>T]
NM_000060.2(BTD):c.[212T>C;236G>A]
NM_000060.2(BTD):c.[235C>T;1361A>C]
NM_000060.2(BTD):c.[235C>T;470G>A]
NM_000060.2(BTD):c.[283C>T;1330G>C]
NM_000060.2(BTD):c.[470G>A;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000060.2(BTD):c.[641A>G;1330G>C]
NM_000060.2(BTD):c.[794A>T;933T>G]
NM_000060.2(BTD):c.[98_104delGCGGCTGinsTCC;212T>C]
NM_000060.4(BTD):c.407dup (p.Val137Glyfs) rs397514439
NM_000116.5(TAFAZZIN):c.*165T>A
NM_000116.5(TAFAZZIN):c.*33G>A
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430
NM_000116.5(TAFAZZIN):c.*618A>G
NM_000116.5(TAFAZZIN):c.*648A>C
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344
NM_000116.5(TAFAZZIN):c.109+5G>A
NM_000116.5(TAFAZZIN):c.109+8G>A
NM_000116.5(TAFAZZIN):c.110-17= rs62617809
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
NM_000116.5(TAFAZZIN):c.236_238+5del
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-1G>A rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C rs1603377590
NM_000116.5(TAFAZZIN):c.239-7C>T
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala99_Ala100insTer)
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655
NM_000116.5(TAFAZZIN):c.460+5G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.528_541+7del
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAFAZZIN):c.541+10G>A
NM_000116.5(TAFAZZIN):c.541+5G>A
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640
NM_000116.5(TAFAZZIN):c.542-2A>G
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584-7del rs782192927
NM_000116.5(TAFAZZIN):c.584-9C>A
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) rs1603381671
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.647-6C>T
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAFAZZIN):c.777+3G>A
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.778-63_778-51del
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
NM_000116.5(TAZ):c.-119= rs11388353
NM_000191.2(HMGCL):c.-59A>C rs188188846
NM_000191.3(HMGCL):c.*104G>A rs552915017
NM_000191.3(HMGCL):c.*194C>G rs192071003
NM_000191.3(HMGCL):c.*289G>T rs369514739
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.*338G>C
NM_000191.3(HMGCL):c.*366G>A
NM_000191.3(HMGCL):c.*388G>A
NM_000191.3(HMGCL):c.*414G>A rs886046310
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
NM_000191.3(HMGCL):c.144+1G>A
NM_000191.3(HMGCL):c.145-4A>G
NM_000191.3(HMGCL):c.145-8C>T rs369286537
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) rs1570652345
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
NM_000191.3(HMGCL):c.252+10A>T
NM_000191.3(HMGCL):c.253-7T>C
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter)
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447
NM_000191.3(HMGCL):c.324A>G (p.Pro108=)
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter)
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
NM_000191.3(HMGCL):c.349-10A>T rs755304948
NM_000191.3(HMGCL):c.349-3C>A
NM_000191.3(HMGCL):c.349-8G>T
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497+4A>G rs568718845
NM_000191.3(HMGCL):c.498-10C>A rs373505626
NM_000191.3(HMGCL):c.498-7C>T
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) rs1553132209
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
NM_000191.3(HMGCL):c.561+8C>G
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.562-8T>C
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter)
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.60+7G>A
NM_000191.3(HMGCL):c.60+7G>T
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.61-17C>T rs56913973
NM_000191.3(HMGCL):c.61-1G>C
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) rs1570645382
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter)
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter)
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.750+8A>G
NM_000191.3(HMGCL):c.751-10_751-9del
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) rs121964998
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804
NM_000191.3(HMGCL):c.876+1G>C
NM_000191.3(HMGCL):c.876+5_876+8dup
NM_000191.3(HMGCL):c.877-7C>T
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) rs1553131326
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) rs1553131320
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) rs1303767209
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.3(MMUT):c.[1891delG];[322C>T]
NM_000255.4(MMUT):c.*101G>A rs113025987
NM_000255.4(MMUT):c.*103A>G rs886061558
NM_000255.4(MMUT):c.*1044T>A
NM_000255.4(MMUT):c.*1182T>C
NM_000255.4(MMUT):c.*1184T>C
NM_000255.4(MMUT):c.*1214C>A rs886061551
NM_000255.4(MMUT):c.*1252T>C rs781039564
NM_000255.4(MMUT):c.*126A>G rs192605776
NM_000255.4(MMUT):c.*1319C>T
NM_000255.4(MMUT):c.*1326G>A rs9381784
NM_000255.4(MMUT):c.*200A>T rs886061556
NM_000255.4(MMUT):c.*257A>C rs187747098
NM_000255.4(MMUT):c.*278A>G rs182726681
NM_000255.4(MMUT):c.*281G>A
NM_000255.4(MMUT):c.*34A>G
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*445A>G
NM_000255.4(MMUT):c.*465C>T rs886061555
NM_000255.4(MMUT):c.*466G>A
NM_000255.4(MMUT):c.*558A>G rs111322712
NM_000255.4(MMUT):c.*580A>G rs11757098
NM_000255.4(MMUT):c.*627C>T
NM_000255.4(MMUT):c.*636T>A
NM_000255.4(MMUT):c.*691T>C rs886061554
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.*986G>A rs886061552
NM_000255.4(MMUT):c.-135G>T rs778890521
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.-39-2A>G
NM_000255.4(MMUT):c.-47G>A
NM_000255.4(MMUT):c.-78C>A rs553218776
NM_000255.4(MMUT):c.-79G>A
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1084-1G>A rs879253838
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1102del (p.Val368fs)
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.4(MMUT):c.1107dup (p.Thr370fs)
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) rs879253840
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503
NM_000255.4(MMUT):c.1218del (p.Asn407fs)
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter)
NM_000255.4(MMUT):c.1261G>A (p.Val421Met)
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) rs879253842
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu) rs533755473
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-20_1333-9del rs879253843
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
NM_000255.4(MMUT):c.1445-1G>C
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1501G>C (p.Glu501Gln)
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln)
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.1560+2T>C
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)
NM_000255.4(MMUT):c.1581dup (p.Ala528fs)
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
NM_000255.4(MMUT):c.1645del (p.Leu549fs)
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) rs879253845
NM_000255.4(MMUT):c.1659G>A (p.Val553=)
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1787del (p.Glu596fs)
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1808+15T>C rs369131814
NM_000255.4(MMUT):c.1808G>A (p.Arg603Lys)
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) rs879253846
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) rs879253847
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-2A>G rs1554158379
NM_000255.4(MMUT):c.1957-892C>A
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer) rs1554158377
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) rs864309739
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2078del (p.Gly693fs) rs879253849
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg) rs121918255
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2125-3C>G rs1581815342
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) rs879253850
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
NM_000255.4(MMUT):c.241T>A (p.Leu81Ile)
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) rs190834116
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116
NM_000255.4(MMUT):c.296T>C (p.Met99Thr)
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.30dup (p.Leu11fs) rs879253821
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) rs879253826
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) rs879253827
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) rs879253828
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) rs879253829
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter)
NM_000255.4(MMUT):c.446dup (p.Asp149fs)
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) rs757000253
NM_000255.4(MMUT):c.499G>A (p.Val167Met)
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) rs864309733
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) rs879253830
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del) rs879253831
NM_000255.4(MMUT):c.622del (p.Val208fs) rs1581834906
NM_000255.4(MMUT):c.630del (p.Glu211fs) rs879253832
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877
NM_000255.4(MMUT):c.669_674dup (p.Phe225_Met226insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.689_690del (p.Thr230fs)
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter) rs747777227
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter)
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) rs12175488
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) rs761477436
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) rs879253835
NM_000255.4(MMUT):c.876C>G (p.Leu292=)
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys)
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) rs879253836
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) rs879253837
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)
NM_000282.3(PCCA):c.183delA rs879253812
NM_000282.4(PCCA):c.*115C>T rs41281122
NM_000282.4(PCCA):c.*116G>A rs886049929
NM_000282.4(PCCA):c.*158dup rs140492017
NM_000282.4(PCCA):c.*159T>G rs113356477
NM_000282.4(PCCA):c.*190C>G rs41281124
NM_000282.4(PCCA):c.*190C>T rs41281124
NM_000282.4(PCCA):c.*223T>G
NM_000282.4(PCCA):c.*34A>C
NM_000282.4(PCCA):c.*57_*60del rs200007489
NM_000282.4(PCCA):c.*91A>G
NM_000282.4(PCCA):c.-20G>A rs374941593
NM_000282.4(PCCA):c.-4A>C
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-10T>C
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1065+3AAC[2]
NM_000282.4(PCCA):c.1065+5C>T rs201597816
NM_000282.4(PCCA):c.1066-10G>C
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788
NM_000282.4(PCCA):c.1209+10A>G
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1284+2dup
NM_000282.4(PCCA):c.1285-10T>C
NM_000282.4(PCCA):c.1285-12_1285-8del
NM_000282.4(PCCA):c.1285-13_1285-6del
NM_000282.4(PCCA):c.1285-1417T>C
NM_000282.4(PCCA):c.1285-4C>T rs372262089
NM_000282.4(PCCA):c.1285-5C>T
NM_000282.4(PCCA):c.1285-7dup
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) rs1594090133
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1354-10T>C
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1429+18C>T
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.145del (p.Arg49fs)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
NM_000282.4(PCCA):c.1540+1G>C rs199604072
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1540+7A>G
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1643+8_1643+13del
NM_000282.4(PCCA):c.1644-9C>T
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) rs202247816
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1747-8dup
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.183+7A>G
NM_000282.4(PCCA):c.183+9T>G
NM_000282.4(PCCA):c.184-10C>T
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.184-5T>C
NM_000282.4(PCCA):c.184-6C>T rs542777393
NM_000282.4(PCCA):c.1845+10585T>C
NM_000282.4(PCCA):c.1845+10G>T
NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1899+2_1899+3insCT
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.1899+7A>G rs950344042
NM_000282.4(PCCA):c.18C>T (p.Val6=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1920del (p.Arg641fs) rs1594099731
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2041-8T>C
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) rs1594160545
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
NM_000282.4(PCCA):c.2118+10T>C
NM_000282.4(PCCA):c.2119-2A>G
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.231+8G>A rs199996461
NM_000282.4(PCCA):c.231+9_231+13del
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.232-6A>T
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
NM_000282.4(PCCA):c.279C>T (p.His93=)
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) rs372093520
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678
NM_000282.4(PCCA):c.300+20G>T rs371217257
NM_000282.4(PCCA):c.300+7A>G
NM_000282.4(PCCA):c.305del (p.His102fs) rs1594413545
NM_000282.4(PCCA):c.306T>C (p.His102=)
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.334_335del (p.Val112fs) rs1594413897
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.414+7C>G rs1051098122
NM_000282.4(PCCA):c.415-10C>T
NM_000282.4(PCCA):c.415-2A>C rs746286209
NM_000282.4(PCCA):c.415-9A>G rs1057520932
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) rs1593996636
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.446del (p.Asn149fs) rs1206838893
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.468+11A>C rs187554010
NM_000282.4(PCCA):c.468+1G>A
NM_000282.4(PCCA):c.468+8G>A
NM_000282.4(PCCA):c.483C>T (p.Val161=)
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.506dup (p.His169fs)
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.638-10C>T
NM_000282.4(PCCA):c.638-5G>A
NM_000282.4(PCCA):c.638-5G>T
NM_000282.4(PCCA):c.638-7C>T
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
NM_000282.4(PCCA):c.656dup (p.Ala220fs) rs1594961338
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.717-4A>G
NM_000282.4(PCCA):c.717-5dup
NM_000282.4(PCCA):c.717-8T>C
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
NM_000282.4(PCCA):c.819+10T>C
NM_000282.4(PCCA):c.819+9A>G rs372739944
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.820-9C>T
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly) rs121964957
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter) rs121964957
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
NM_000282.4(PCCA):c.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.897G>C (p.Val299=)
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
NM_000282.4(PCCA):c.914+10C>G
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.915-6A>G
NM_000282.4(PCCA):c.915-8A>G
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130
NM_000282.4(PCCA):c.946A>T (p.Met316Leu)
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141
NM_000411.7(HLCS):c.-466A>G rs117138955
NM_000411.7(HLCS):c.-471A>G rs118091633
NM_000411.7(HLCS):c.-480-12A>G rs115866403
NM_000411.8(HLCS):c.-393+11G>T rs557368288
NM_000411.8(HLCS):c.-393+7C>T rs886057081
NM_000411.8(HLCS):c.-405T>C rs117476389
NM_000411.8(HLCS):c.-433C>T rs115711809
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs) rs1568307275
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.*44C>T rs201452852
NM_000532.5(PCCB):c.*91C>A rs115533065
NM_000532.5(PCCB):c.-34G>A rs372649775
NM_000532.5(PCCB):c.-35G>A rs886058016
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1090+7T>C
NM_000532.5(PCCB):c.1091-6T>C
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
NM_000532.5(PCCB):c.1198+1G>A
NM_000532.5(PCCB):c.1198+1_1198+11del
NM_000532.5(PCCB):c.1199-4C>T rs1361484856
NM_000532.5(PCCB):c.1199-8A>G rs886058019
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1223del (p.Ile408fs) rs758309460
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) rs1576360539
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514
NM_000532.5(PCCB):c.1338C>T (p.His446=)
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) rs1576360934
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val) rs1576360976
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs) rs1553784721
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1398+3G>A
NM_000532.5(PCCB):c.1398+9C>T
NM_000532.5(PCCB):c.1399-10C>T
NM_000532.5(PCCB):c.1399-2_1399-1del
NM_000532.5(PCCB):c.1399-5C>T
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.1498+10T>C
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1498+8A>G
NM_000532.5(PCCB):c.1499-1G>C
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) rs202247821
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe)
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.183+7C>G rs1039491317
NM_000532.5(PCCB):c.183+9T>C
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000532.5(PCCB):c.184-7A>T
NM_000532.5(PCCB):c.184-9C>T
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
NM_000532.5(PCCB):c.196del (p.Ala66fs) rs1553774018
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
NM_000532.5(PCCB):c.21G>A (p.Val7=)
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
NM_000532.5(PCCB):c.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
NM_000532.5(PCCB):c.303+7G>A
NM_000532.5(PCCB):c.303+8T>A rs199769617
NM_000532.5(PCCB):c.304-4G>T
NM_000532.5(PCCB):c.304-5G>C
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
NM_000532.5(PCCB):c.30C>A (p.Val10=)
NM_000532.5(PCCB):c.30C>T (p.Val10=)
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.321G>C (p.Val107=)
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
NM_000532.5(PCCB):c.371del (p.Gln124fs)
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.384T>G (p.Val128=)
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464
NM_000532.5(PCCB):c.410A>G (p.His137Arg) rs1391142709
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.429+8T>C
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
NM_000532.5(PCCB):c.510G>A (p.Val170=)
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289
NM_000532.5(PCCB):c.544-10G>A
NM_000532.5(PCCB):c.544-2A>G rs752377212
NM_000532.5(PCCB):c.544-4G>A
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+14G>T
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.654+20T>C rs3821445
NM_000532.5(PCCB):c.654+3A>C rs199886085
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
NM_000532.5(PCCB):c.75C>T (p.Val25=)
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763+8G>A
NM_000532.5(PCCB):c.763+8G>C
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.764-10G>C
NM_000532.5(PCCB):c.764-5C>A
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.774C>T (p.His258=)
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn)
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.884+10A>G
NM_000532.5(PCCB):c.884+1G>C rs1553779458
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
NM_000532.5(PCCB):c.885-2A>G rs1553780163
NM_000532.5(PCCB):c.885-4A>C rs535943678
NM_000532.5(PCCB):c.885-7C>T rs1427637783
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
NM_000532.5(PCCB):c.963C>T (p.His321=)
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.966+9C>T
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) rs1353971489
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala) rs776019250
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter) rs35135520
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112
NM_001001563.5(TIMM50):c.854-8G>C
NM_001008216.2(GALE):c.-77+311C>T rs113324056
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*177C>G rs886046860
NM_001081.3(CUBN):c.*195T>C rs886046859
NM_001081.3(CUBN):c.*203C>T rs769041830
NM_001081.3(CUBN):c.*266C>T rs374059721
NM_001081.3(CUBN):c.*281A>G rs886046858
NM_001081.3(CUBN):c.*297C>T rs886046857
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*329C>G rs376727720
NM_001081.3(CUBN):c.*329C>T rs376727720
NM_001081.3(CUBN):c.*330G>C rs181630914
NM_001081.3(CUBN):c.*373G>T rs780298022
NM_001081.3(CUBN):c.*416G>A rs886046856
NM_001081.3(CUBN):c.*420C>T rs182278265
NM_001081.3(CUBN):c.*436C>A rs574512019
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*470T>C rs886046855
NM_001081.3(CUBN):c.*514T>G rs886046854
NM_001081.3(CUBN):c.*560C>T rs45565931
NM_001081.3(CUBN):c.*564G>C rs184284227
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.*734A>G rs751683958
NM_001081.3(CUBN):c.*737T>C rs114039309
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*782G>A rs570478432
NM_001081.3(CUBN):c.*786T>C rs886046853
NM_001081.3(CUBN):c.*794A>G rs886046852
NM_001081.3(CUBN):c.*81C>A rs886046861
NM_001081.3(CUBN):c.*883G>A rs886046851
NM_001081.3(CUBN):c.*93C>A rs111644764
NM_001081.3(CUBN):c.-35G>C rs376502722
NM_001081.3(CUBN):c.-42G>T rs751905101
NM_001081.3(CUBN):c.-50G>A rs370711661
NM_001081.3(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.1003G>A (p.Ala335Thr) rs57335729
NM_001081.3(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726
NM_001081.3(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.3(CUBN):c.10102A>G (p.Met3368Val) rs767333853
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10181-14A>G rs886046864
NM_001081.3(CUBN):c.10245C>T (p.Tyr3415=) rs147730705
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10267G>A (p.Val3423Ile) rs145872906
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.10363-3A>G rs765943248
NM_001081.3(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.3(CUBN):c.10641G>A (p.Arg3547=) rs145909413
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.3(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266
NM_001081.3(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
NM_001081.3(CUBN):c.1111+5T>C rs199662739
NM_001081.3(CUBN):c.1165C>A (p.Pro389Thr) rs1801224
NM_001081.3(CUBN):c.1245T>C (p.Gly415=) rs12571671
NM_001081.3(CUBN):c.1530+12A>C rs138936163
NM_001081.3(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689
NM_001081.3(CUBN):c.1653C>T (p.Ser551=) rs372499101
NM_001081.3(CUBN):c.1681G>A (p.Asp561Asn) rs147449194
NM_001081.3(CUBN):c.1794C>T (p.Tyr598=) rs140184467
NM_001081.3(CUBN):c.1811C>T (p.Pro604Leu) rs200537125
NM_001081.3(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.1926C>T (p.Asp642=) rs201938886
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2013A>G (p.Pro671=) rs137892259
NM_001081.3(CUBN):c.2016G>A (p.Pro672=) rs148107237
NM_001081.3(CUBN):c.2110+10C>G rs752409034
NM_001081.3(CUBN):c.2120G>A (p.Arg707His) rs763524933
NM_001081.3(CUBN):c.2138C>T (p.Thr713Met) rs141420691
NM_001081.3(CUBN):c.2182T>C (p.Phe728Leu) rs147752521
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2203G>A (p.Val735Ile) rs370770104
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
NM_001081.3(CUBN):c.2446+11A>G rs372125740
NM_001081.3(CUBN):c.2447-15T>A rs886046877
NM_001081.3(CUBN):c.2483G>A (p.Arg828His) rs199527884
NM_001081.3(CUBN):c.2536A>G (p.Ile846Val) rs775423928
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2610A>G (p.Glu870=) rs143471343
NM_001081.3(CUBN):c.2656G>A (p.Glu886Lys) rs138545198
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+14C>T rs111781659
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2791+9C>T rs10795440
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001081.3(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503
NM_001081.3(CUBN):c.3252A>G (p.Gln1084=) rs142560894
NM_001081.3(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560
NM_001081.3(CUBN):c.3329+1G>T rs1205598688
NM_001081.3(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907
NM_001081.3(CUBN):c.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.349-9T>C rs375431948
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.3(CUBN):c.387+13C>T rs766779196
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308
NM_001081.3(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.3(CUBN):c.4092C>G (p.Ser1364=) rs199763912
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291
NM_001081.3(CUBN):c.4811G>T (p.Gly1604Val) rs751110627
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.489+14T>C rs886046882
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.5069C>T (p.Ala1690Val) rs141640975
NM_001081.3(CUBN):c.5073C>G (p.Pro1691=) rs200977290
NM_001081.3(CUBN):c.5076C>T (p.Leu1692=) rs886046874
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.5343-6A>G rs776579478
NM_001081.3(CUBN):c.5343-8C>A rs2271463
NM_001081.3(CUBN):c.536G>T (p.Gly179Val) rs370373276
NM_001081.3(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.3(CUBN):c.5680A>G (p.Ile1894Val) rs76789390
NM_001081.3(CUBN):c.5796A>G (p.Glu1932=) rs376536525
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.5856A>G (p.Ser1952=) rs1801234
NM_001081.3(CUBN):c.5862G>A (p.Lys1954=) rs181991723
NM_001081.3(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.5926+5G>A rs143301088
NM_001081.3(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.3(CUBN):c.5967G>C (p.Val1989=) rs139153235
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.6180G>A (p.Gly2060=) rs534571792
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
NM_001081.3(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886
NM_001081.3(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.3(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780
NM_001081.3(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939
NM_001081.3(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712
NM_001081.3(CUBN):c.6561G>A (p.Ser2187=) rs11254278
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.671G>A (p.Arg224His) rs139891639
NM_001081.3(CUBN):c.6729G>A (p.Pro2243=) rs757609735
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6924A>T (p.Ser2308=) rs115303408
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.6997A>G (p.Ile2333Val) rs149507036
NM_001081.3(CUBN):c.7001-4G>A rs886046871
NM_001081.3(CUBN):c.7069T>C (p.Tyr2357His) rs376122892
NM_001081.3(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870
NM_001081.3(CUBN):c.7106G>T (p.Gly2369Val) rs200593316
NM_001081.3(CUBN):c.7210+9A>G rs117711403
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.735C>T (p.Cys245=) rs766772944
NM_001081.3(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556
NM_001081.3(CUBN):c.736G>A (p.Val246Ile) rs760990753
NM_001081.3(CUBN):c.7509G>A (p.Pro2503=) rs201001705
NM_001081.3(CUBN):c.7533A>C (p.Ile2511=) rs748416223
NM_001081.3(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.7662A>G (p.Pro2554=) rs3740165
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7797C>T (p.Cys2599=) rs138758085
NM_001081.3(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.3(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.3(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8021G>A (p.Arg2674His) rs184746130
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237
NM_001081.3(CUBN):c.8095G>A (p.Val2699Met) rs535261179
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.814G>A (p.Gly272Arg) rs146035059
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506
NM_001081.3(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.3(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939
NM_001081.3(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8412T>C (p.Gly2804=) rs139990077
NM_001081.3(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072
NM_001081.3(CUBN):c.8502G>A (p.Thr2834=) rs749545791
NM_001081.3(CUBN):c.8599-8C>T rs199774490
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8656G>A (p.Val2886Met) rs200235278
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509
NM_001081.3(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.3(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001081.3(CUBN):c.8968G>A (p.Val2990Ile) rs115888073
NM_001081.3(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240
NM_001081.3(CUBN):c.9030T>C (p.Ala3010=) rs1801241
NM_001081.3(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363
NM_001081.3(CUBN):c.9036G>A (p.Pro3012=) rs576867280
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.910G>A (p.Glu304Lys) rs78201384
NM_001081.3(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.3(CUBN):c.9267C>T (p.Thr3089=) rs200124646
NM_001081.3(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.939C>T (p.Asn313=) rs1801223
NM_001081.3(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916
NM_001081.3(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.9525G>A (p.Ser3175=) rs199499934
NM_001081.3(CUBN):c.9565A>G (p.Ile3189Val) rs111265129
NM_001081.3(CUBN):c.9597C>T (p.Leu3199=) rs200457480
NM_001081.3(CUBN):c.9618G>A (p.Leu3206=) rs559567467
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9664-9T>G rs145383974
NM_001081.3(CUBN):c.9714T>C (p.Gly3238=) rs141513734
NM_001081.3(CUBN):c.9843A>G (p.Thr3281=) rs703064
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001081.4(CUBN):c.*15G>A
NM_001081.4(CUBN):c.*267A>T
NM_001081.4(CUBN):c.*298G>A
NM_001081.4(CUBN):c.*304G>T
NM_001081.4(CUBN):c.*330G>A
NM_001081.4(CUBN):c.*380T>C
NM_001081.4(CUBN):c.*446A>G
NM_001081.4(CUBN):c.*453A>G
NM_001081.4(CUBN):c.*460C>A
NM_001081.4(CUBN):c.*597A>C
NM_001081.4(CUBN):c.*669C>T
NM_001081.4(CUBN):c.*769G>A
NM_001081.4(CUBN):c.*872T>C
NM_001081.4(CUBN):c.*940A>G
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
NM_001081.4(CUBN):c.348+10A>G
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
NM_001081.4(CUBN):c.388-3C>T
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
NM_001081.4(CUBN):c.5343-11C>T
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
NM_001081.4(CUBN):c.5840C>A rs147617753
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
NM_001081.4(CUBN):c.7706-4T>C rs374979108
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
NM_001127692.2(PCCA):c.-60C>T rs778039561
NM_001166059.1(HMGCL):c.-41G>C rs886046315
NM_001178014.1(PCCB):c.-37C>T rs145734157
NM_001178014.1(PCCB):c.-46A>T rs751837162
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
NM_001243279.3(ACSF3):c.1126+10C>T
NM_001243279.3(ACSF3):c.1126+1G>A
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029
NM_001243279.3(ACSF3):c.1127-4G>A
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>A
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1127-9C>T
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
NM_001243279.3(ACSF3):c.1239+8A>T
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
NM_001243279.3(ACSF3):c.1366+8C>T
NM_001243279.3(ACSF3):c.1366+9C>T
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425
NM_001243279.3(ACSF3):c.1367-36_1367-7del
NM_001243279.3(ACSF3):c.1367-4T>A
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
NM_001243279.3(ACSF3):c.1501+10C>T
NM_001243279.3(ACSF3):c.1502-10C>T
NM_001243279.3(ACSF3):c.1502-11_1502-9del
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495
NM_001243279.3(ACSF3):c.1502-8A>G
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745
NM_001243279.3(ACSF3):c.1613+9G>T
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs)
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
NM_001243279.3(ACSF3):c.666+10G>A
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-12C>T rs72817437
NM_001243279.3(ACSF3):c.667-13T>C rs139367843
NM_001243279.3(ACSF3):c.667-7C>T
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
NM_001243279.3(ACSF3):c.822+10G>C
NM_001243279.3(ACSF3):c.823-26T>C rs9921293
NM_001243279.3(ACSF3):c.823-4G>A
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.823-5C>T rs192714121
NM_001243279.3(ACSF3):c.823-6T>C rs76096111
NM_001243279.3(ACSF3):c.823-8C>G
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
NM_001243279.3(ACSF3):c.978-1G>A
NM_001243279.3(ACSF3):c.978-4G>A
NM_001243279.3(ACSF3):c.978-5C>T rs767914459
NM_001243279.3(ACSF3):c.978-6G>A rs377217672
NM_001243279.3(ACSF3):c.978-6G>T
NM_001243279.3(ACSF3):c.978-7C>T rs190927208
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
NM_001258392.3(CLPB):c.1122+16T>C rs187846751
NM_001258392.3(CLPB):c.1123-3C>T
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1167+6T>C
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
NM_001258392.3(CLPB):c.1680+6A>C
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
NM_001258392.3(CLPB):c.1786-3C>T rs372126133
NM_001258392.3(CLPB):c.1786-6C>T rs191389918
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.404-16C>T rs371250603
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
NM_001258392.3(CLPB):c.455+8G>C rs200993434
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273