ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 834
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HGVS dbSNP
ABCD4, 1456G-T
ACSF3, LYS462THR AND GLY465_GLY470 DEL
AMN, IVS3, A-G, -2
BTD, 15-BP DEL/11-BP INS
HLCS, 1-BP DEL, 780G
HMGCL, 930-BP DEL, EX3-6DEL
LMBRD1, 1-BP DEL, 1056G
MMAA, 8-BP INS, NT260
MUT, 1808G-A
MUT, 2-BP DEL, 769CA
MUT, IVS11, C-A, -891
NC_000003.11:g.(?_135969208)_(135969410_?)del
NC_000003.11:g.(?_182769927)_(182770048_?)del
NC_000006.11:g.(?_49423783)_(49423960_?)del
NC_000011.10:g.108121607A>G
NC_000011.10:g.108121608T>C
NC_000011.10:g.108131913A>T
NC_000011.10:g.108131915_108131916AT[1]
NC_000011.10:g.108131918_108131919TG[3]
NC_000011.10:g.108131933T>A
NC_000011.10:g.108134268C>T
NC_000011.10:g.108135161_108135162delinsG
NC_000011.10:g.108135187C>T
NC_000011.10:g.108135221_108135222del
NC_000011.10:g.108138908del
NC_000011.10:g.108138924_108138944delinsTCCTC
NC_000011.10:g.108141628_108141629insCT
NC_000011.10:g.108143991G>A
NC_000011.10:g.108143993C>T
NC_000011.10:g.108146209_108146212dup
NC_000011.10:g.108146228dup
NC_000011.10:g.108146320A>G
NC_000011.10:g.108146359G>A
NC_000011.10:g.108147329_108147332dup
NC_000011.9:g.(?_108009615)_(108010952_?)del
NC_000011.9:g.(?_72004391)_(72145538_?)del
NC_000013.10:g.(?_100764075)_(100764335_?)del
NC_000013.10:g.(?_100764085)_(100764325_?)del
NC_000013.10:g.(?_100982795)_(101020848_?)del
NC_000013.10:g.(?_101179919)_(101182701_?)del
NC_000014.8:g.(?_103336519)_(103397037_?)del
NC_012920.1:m.3243A>G rs199474657
NG_008939.1:g.883_8934del8052
NG_009888.2:g.20624_29833delinsTAA
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.1006-1G>A
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1006-2A>C rs145229472
NM_000019.4(ACAT1):c.1032_1034AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
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.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907
NM_000019.4(ACAT1):c.121-13T>A
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.334+1G>A
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
NM_000019.4(ACAT1):c.435+1G>A
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594
NM_000019.4(ACAT1):c.730+1G>A
NM_000019.4(ACAT1):c.731-46_752del
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000019.4(ACAT1):c.826+1G>T rs727503796
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.940+1G>T
NM_000019.4(ACAT1):c.941-9T>A
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000060.2(BTD):c.1052delC (p.Thr351Lysfs) rs397514398
NM_000060.2(BTD):c.933delT (p.Ser311Argfs) rs397514395
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_000060.3(BTD):c.310-15delT rs587783008
NM_000060.4(BTD):c.1049del (p.Ala350Glufs) rs397514397
NM_000060.4(BTD):c.1191_1192del (p.Glu397Aspfs) rs397514403
NM_000060.4(BTD):c.1239del (p.Tyr414Ilefs) rs397514407
NM_000060.4(BTD):c.1264dup (p.Leu422Profs) rs397514411
NM_000060.4(BTD):c.1384del (p.Arg462Glyfs) rs397514420
NM_000060.4(BTD):c.246_254del (p.Leu83_Leu85del) rs397514346
NM_000060.4(BTD):c.393del (p.Phe131Leufs) rs397514356
NM_000060.4(BTD):c.407dup (p.Val137Glyfs) rs397514439
NM_000060.4(BTD):c.490_491del (p.Arg164Glyfs) rs397514365
NM_000060.4(BTD):c.544del (p.Ser182Valfs) rs397514368
NM_000060.4(BTD):c.594_596del (p.Val199del) rs397514373
NM_000060.4(BTD):c.594del (p.Val199Cysfs) rs397514374
NM_000116.5(TAZ):c.110-2A>G
NM_000116.5(TAZ):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAZ):c.239-1G>A
NM_000116.5(TAZ):c.239-1G>C
NM_000116.5(TAZ):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAZ):c.281G>A (p.Arg94His)
NM_000116.5(TAZ):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAZ):c.284+110G>A
NM_000116.5(TAZ):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAZ):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAZ):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAZ):c.370G>T (p.Gly124Ter)
NM_000116.5(TAZ):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAZ):c.605_608del (p.Glu202fs)
NM_000116.5(TAZ):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAZ):c.647-1G>C rs587776741
NM_000116.5(TAZ):c.697C>T (p.Gln233Ter)
NM_000116.5(TAZ):c.700-1G>A rs397515747
NM_000116.5(TAZ):c.708_709TG[1] (p.Val237fs) rs727504394
NM_000116.5(TAZ):c.718G>A (p.Gly240Arg) rs387907218
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.202_203CT[2] (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) rs1553132209
NM_000191.3(HMGCL):c.503_504TC[1] (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) rs121964998
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.3(MMUT):c.[1891delG];[322C>T]
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1084-1G>A rs879253838
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
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.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) rs879253840
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) rs1227030642
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.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>G (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1333-20_1333-9del rs879253843
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161
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.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) rs879253845
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
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) rs1554158970
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) rs879253846
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
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.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-2A>G rs1554158379
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer) rs1554158377
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) rs864309739
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.2107G>C (p.Gly703Arg) rs121918255
NM_000255.4(MMUT):c.2125-3C>G
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.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) rs190834116
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.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
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.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) rs879253828
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) rs879253829
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) rs757000253
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.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) rs879253830
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.607G>A (p.Gly203Arg) rs778702777
NM_000255.4(MMUT):c.610_612GAA[1] (p.Glu205del) rs879253831
NM_000255.4(MMUT):c.622del (p.Val208fs)
NM_000255.4(MMUT):c.630del (p.Glu211fs) rs879253832
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.653A>G (p.Gln218Arg) rs869320653
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
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.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.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) rs12175488
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.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
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.935G>T (p.Gly312Val) rs864309734
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) rs879253837
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372
NM_000282.3(PCCA):c.183delA rs879253812
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs)
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
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.1747-1G>C rs879253803
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1920del (p.Arg641fs)
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.231+1G>C rs972937270
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.2T>A (p.Met1Lys)
NM_000282.4(PCCA):c.305del (p.His102fs)
NM_000282.4(PCCA):c.332_333GT[1] (p.Val112fs)
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.415-2A>C rs746286209
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
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.862_863AG[2] (p.Glu289fs)
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179
NM_000411.8(HLCS):c.1055T>A (p.Leu352Ter)
NM_000411.8(HLCS):c.1135C>T (p.Gln379Ter) rs1393866282
NM_000411.8(HLCS):c.1519+5G>A rs753887925
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp) rs119103229
NM_000411.8(HLCS):c.1533dup (p.Val512fs) rs767533946
NM_000411.8(HLCS):c.1648G>A (p.Val550Met) rs119103231
NM_000411.8(HLCS):c.1693C>T (p.Arg565Ter) rs772791252
NM_000411.8(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_000411.8(HLCS):c.1741G>A (p.Gly581Ser) rs119103230
NM_000411.8(HLCS):c.250G>T (p.Glu84Ter) rs1569218416
NM_000411.8(HLCS):c.584dup (p.Tyr195Ter)
NM_000411.8(HLCS):c.604G>T (p.Glu202Ter)
NM_000411.8(HLCS):c.647T>G (p.Leu216Arg) rs28934602
NM_000411.8(HLCS):c.655dup (p.Ile219fs) rs773102942
NM_000411.8(HLCS):c.710T>C (p.Leu237Pro) rs119103227
NM_000411.8(HLCS):c.782del (p.Gly261fs) rs771944310
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs) rs1568307275
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1220del (p.Gly407fs)
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
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.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1538_1540dup (p.Arg514_Ile515insPro) rs202247821
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
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.372+2T>C rs879253814
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
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.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.654+462A>G
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514
NM_000532.5(PCCB):c.839del (p.Leu280fs)
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.968_970TTG[1] (p.Val324del)
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
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.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112
NM_001017989.3(OPA3):c.143-24183C>T rs28937899
NM_001017989.3(OPA3):c.143-24276_143-24259del rs80356526
NM_001017989.3(OPA3):c.143-24285C>G rs80356525
NM_001017989.3(OPA3):c.143-24456G>C rs80356523
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.646+7323G>T
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001370658.1(BTD):c.100G>T (p.Glu34Ter) rs397514338
NM_001370658.1(BTD):c.1036T>C (p.Ser346Pro) rs397514399
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1097G>A (p.Trp366Ter) rs397514401
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1189G>T (p.Val397Phe) rs397514409
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412
NM_001370658.1(BTD):c.1208G>C (p.Cys403Ser) rs397514413
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr) rs397514335
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser) rs397514335
NM_001370658.1(BTD):c.1215T>G (p.Tyr405Ter) rs397514414
NM_001370658.1(BTD):c.1224C>A (p.Tyr408Ter) rs35145938
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.124G>T (p.Val42Leu) rs397507170
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys) rs397514415
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1273G>A (p.Gly425Arg) rs397514417
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1309G>A (p.Val437Met) rs146600671
NM_001370658.1(BTD):c.130G>A (p.Glu44Lys) rs397514340
NM_001370658.1(BTD):c.1312dup (p.Cys438fs) rs587783007
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr) rs397514421
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.134A>G (p.His45Arg) rs397514341
NM_001370658.1(BTD):c.134_137ATCC[4] (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1398del (p.Trp467fs) rs1559600895
NM_001370658.1(BTD):c.1399T>C (p.Trp467Arg) rs397514422
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1403G>A (p.Gly468Asp) rs397514424
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.1451T>A (p.Met484Lys) rs397514426
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427
NM_001370658.1(BTD):c.1497T>G (p.Tyr499Ter) rs1559601106
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429
NM_001370658.1(BTD):c.1556dup (p.Leu519fs) rs397514430
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.1567G>C (p.Asp523His) rs397514432
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343
NM_001370658.1(BTD):c.185C>A (p.Ala62Asp) rs397507171
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) rs151071780
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.223C>T (p.Gln75Ter) rs397514349
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr) rs397514350
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.250G>T (p.Asp84Tyr) rs397514351
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163
NM_001370658.1(BTD):c.261_262TA[3] (p.Val89Ter) rs1559596792
NM_001370658.1(BTD):c.266T>G (p.Val89Gly) rs397507172
NM_001370658.1(BTD):c.266dup (p.Phe90fs) rs1559596828
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys) rs397514352
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln) rs397514352
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.394A>C (p.Thr132Pro) rs374681173
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.458T>G (p.Leu153Arg) rs397514437
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.499C>T (p.Pro167Ser) rs397507173
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.527C>G (p.Thr176Arg) rs397514372
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636
NM_001370658.1(BTD):c.571del (p.Arg191fs) rs1559599230
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869
NM_001370658.1(BTD):c.586T>A (p.Tyr196Asn) rs1559599267
NM_001370658.1(BTD):c.592G>C (p.Glu198Gln) rs397514378
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.604G>C (p.Asp202His) rs200337373
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.623A>G (p.Asp208Gly) rs587783004
NM_001370658.1(BTD):c.633del (p.Phe212fs) rs1559599378
NM_001370658.1(BTD):c.635T>C (p.Phe212Ser)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.723C>G (p.Tyr241Ter)
NM_001370658.1(BTD):c.734A>T (p.His245Leu) rs397514385
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter) rs397514336
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.776T>A (p.Leu259Ter)
NM_001370658.1(BTD):c.776T>G (p.Leu259Trp) rs397514390
NM_001370658.1(BTD):c.796A>G (p.Lys266Glu) rs1559599682
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) rs397514334
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.836C>T (p.Ala279Val) rs397514392
NM_001370658.1(BTD):c.838A>C (p.Asn280His) rs587783006
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) rs397514393
NM_001370658.1(BTD):c.872G>A (p.Ser291Asn) rs397514394
NM_001370658.1(BTD):c.873T>G (p.Ser291Arg) rs397514386
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) rs397514433
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val)
NM_001609.3(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001609.3(ACADSB):c.303+3A>G rs1345480688
NM_001609.3(ACADSB):c.375dup (p.Glu126fs)
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.763C>T (p.Leu255Phe) rs137852649
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
NM_001698.2(AUH):c.263-2A>G rs730880311
NM_001698.2(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.2(AUH):c.80del (p.Ser27fs) rs730880310
NM_001698.2(AUH):c.895-1G>A rs730880309
NM_001698.2(AUH):c.943-2A>G rs730880312
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.3(IVD):c.507delG (p.Glu169Aspfs) rs398123684
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_002225.4(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.784+1G>A rs763471771
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.542+1G>T rs769364566
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_013247.4(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508
NM_013247.4(HTRA2):c.1316_1320del (p.Val439fs) rs1057519080
NM_013247.4(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer) rs1057519082
NM_013247.4(HTRA2):c.906+1G>C rs1057519081
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755
NM_014362.4(HIBCH):c.220-9T>G rs786200864
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.517+1G>A
NM_014362.4(HIBCH):c.609del (p.Gly204fs)
NM_014362.4(HIBCH):c.79-3C>G rs778922921
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.133C>T (p.Gln45Ter)
NM_014384.2(ACAD8):c.455T>C (p.Met152Thr) rs121908418
NM_014384.2(ACAD8):c.867C>A (p.His289Gln) rs121908421
NM_014384.2(ACAD8):c.905G>A (p.Arg302Gln) rs121908422
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.22_23AG[1] (p.Arg8fs) rs1553454436
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1574+1G>A rs730880265
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.569A>G (p.His190Arg) rs119103225
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-239G>C rs1562458915
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_052845.4(MMAB):c.567_569CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) rs869320657
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val) rs1553959152
NM_172250.3(MMAA):c.137_138CT[1] (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) rs754894257
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726
NM_172250.3(MMAA):c.267_268del (p.Thr91fs) rs1553957906
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.290_296del (p.Gln97fs) rs1553957907
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) rs780082584
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.441dup (p.Leu148fs) rs1553958126
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.455del (p.Pro152fs) rs1553958127
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.525_526TG[1] (p.Val176fs) rs1553958158
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp) rs1553958392
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) rs104893849
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) rs864309730
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474
NM_172250.3(MMAA):c.721A>T (p.Ile241Phe) rs756221585
NM_172250.3(MMAA):c.728C>A (p.Thr243Asn) rs1553958417
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.820-1G>A rs1553959017
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp) rs1553959024
NM_172250.3(MMAA):c.875A>T (p.Asp292Val) rs1553959025
NM_172250.3(MMAA):c.970-2A>T rs1553959113
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432
NM_174917.5(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_174917.5(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_174917.5(ACSF3):c.1300C>T (p.Arg434Ter)
NM_174917.5(ACSF3):c.1405C>T (p.Arg469Ter)
NM_174917.5(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_174917.5(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119
NM_174917.5(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118
NM_174917.5(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_174917.5(ACSF3):c.305del (p.Cys102fs)
NM_174917.5(ACSF3):c.451G>T (p.Glu151Ter)
NM_174917.5(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_174917.5(ACSF3):c.675del (p.Leu226fs)
NM_174917.5(ACSF3):c.689G>A (p.Trp230Ter)
NM_174917.5(ACSF3):c.728C>T (p.Pro243Leu) rs140986055
NM_174917.5(ACSF3):c.828G>A (p.Trp276Ter)
NM_181697.3(PRDX1):c.515-1G>T rs751828470
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
PCCA, 2-BP INS, 1824IVS, +3
PCCA, 4-BP DEL, 1824IVS, +3
PCCA, 9-BP DEL, 1771IVS, -2
PCCA, IVS14, A-G, -1416
PCCB, 12-BP INS, 14-BP DEL, NT1218
PCCB, 8-BP DEL, NT3
Single allele
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, IVS1DS, G-C, +5

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