ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 647
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HGVS dbSNP
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000011.10:g.(?_108147260)_(108147400_?)del
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)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_000016.10:g.89100703_89111915del
NC_000016.9:g.(?_89167111_89178323del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000019.10:g.(?_45553504)_(45553921_?)del
NC_000023.10:g.(?_153640181)_(153641904_?)del
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) rs1591374552
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
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.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.1168T>C (p.Ser390Pro) rs1184088336
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) rs1591375882
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
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.377G>C (p.Cys126Ser) rs1278227329
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.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148
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.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907
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.578T>C (p.Met193Thr) rs541517496
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208
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.674C>A (p.Ala225Glu) rs1385465985
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) rs983216159
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.844A>C (p.Asn282His) rs750195919
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.901G>C (p.Ala301Pro) rs1420321267
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146
NM_000019.4(ACAT1):c.940+2T>C
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.236_238+5del
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.528_541+7del
NM_000116.5(TAFAZZIN):c.542-2A>G
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
NM_000191.3(HMGCL):c.144+1G>A
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter)
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter)
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter)
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.61-1G>C
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter)
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter)
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804
NM_000255.4(MMUT):c.-39-2A>G
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
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>C rs879253838
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1102del (p.Val368fs)
NM_000255.4(MMUT):c.1107dup (p.Thr370fs)
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
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.1645del (p.Leu549fs)
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1787del (p.Glu596fs)
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825
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.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
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.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
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.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
NM_000255.4(MMUT):c.446dup (p.Asp149fs)
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)
NM_000255.4(MMUT):c.754-2A>G rs1405705785
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.842T>A (p.Leu281Ter)
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)
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.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_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.106-1G>A
NM_000282.4(PCCA):c.1065+1G>C
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896
NM_000282.4(PCCA):c.1284+1G>A rs752761437
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907
NM_000282.4(PCCA):c.1540+1G>C rs199604072
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862
NM_000282.4(PCCA):c.183+1G>A
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1899+2_1899+3insCT
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-2A>G rs776281864
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) rs1594160545
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2119-9A>G rs1389933015
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.232-2A>G
NM_000282.4(PCCA):c.232-2A>T
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.637+1G>A
NM_000282.4(PCCA):c.637+2T>A
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.717-2A>G
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
NM_000282.4(PCCA):c.820-1G>A
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1198+1G>A
NM_000532.5(PCCB):c.1198+1_1198+11del
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.1260dup (p.Glu421Ter) rs1553784569
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.1339C>T (p.Leu447Phe) rs1576360934
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.1398+1G>T rs794727092
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.196del (p.Ala66fs) rs1553774018
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.372+2T>C rs879253814
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.429+1G>A rs1317017233
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.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.544-2A>G rs752377212
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.655-2A>G rs796052020
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
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.942C>A (p.Tyr314Ter) rs572246667
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
NM_001243279.3(ACSF3):c.1126+1G>A
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
NM_001243279.3(ACSF3):c.978-1G>A
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.221dup (p.Gly76fs)
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1621-2A>G rs750728042
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
NM_001352514.2(HLCS):c.2237-56_2255del
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-17+1G>C rs1057516440
NM_001370658.1(BTD):c.-17+1G>T rs1057516440
NM_001370658.1(BTD):c.-17+1del rs1057517114
NM_001370658.1(BTD):c.-17+2T>C
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
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.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter) rs397514416
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1268T>C (p.Phe423Ser) rs1559600573
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345
NM_001370658.1(BTD):c.1334dup (p.Leu446fs) rs397514440
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs) rs1553654178
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter) rs1277029090
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
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.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.249+1G>T rs373249212
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636
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.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.368G>T (p.Cys123Phe) rs1336386457
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369
NM_001370658.1(BTD):c.527del (p.Thr176fs) rs1553653680
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del) rs1575029290
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
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.577del (p.His193fs) rs780874850
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
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.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.4(ACADSB):c.1128+1G>A
NM_001609.4(ACADSB):c.1128+1_1128+3del
NM_001609.4(ACADSB):c.1228+1G>A
NM_001609.4(ACADSB):c.1228+2T>C
NM_001609.4(ACADSB):c.303+1G>A rs147936696
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001698.2(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001698.2(AUH):c.599-2A>G rs1587799880
NM_001698.3(AUH):c.656-2_656-1del
NM_001698.3(AUH):c.656-2del
NM_002225.5(IVD):c.-8T>C rs566691073
NM_002225.5(IVD):c.-9A>T rs373594717
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1138+1G>A
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.157_160dup (p.Ala54fs) rs1555403211
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.286+2T>C rs748026507
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.287-2A>C
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682
NM_002225.5(IVD):c.44G>A (p.Trp15Ter) rs907414760
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-2A>T
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.551-1G>A rs1057517043
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.711dup (p.Lys238Ter) rs1555404426
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.883A>T (p.Met295Leu) rs1595786853
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-2A>G rs1057517056
NM_002225.5(IVD):c.961-2A>T
NM_002225.5(IVD):c.974del (p.Lys325fs) rs1555405070
NM_002225.5(IVD):c.994del (p.Arg332fs) rs1555405080
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
NM_005050.4(ABCD4):c.719+2T>G
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
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.439-2A>G
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.958G>A (p.Ala320Thr) rs200620279
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
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.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015702.3(MMADHC):c.10-1G>C
NM_015702.3(MMADHC):c.154+1G>A rs1385597423
NM_015702.3(MMADHC):c.372+1G>T
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046
NM_020166.5(MCCC1):c.1268-1G>A rs1191868168
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1732-1G>T
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
NM_020166.5(MCCC1):c.639+5G>T
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.89+1G>C rs771730236
NM_020166.5(MCCC1):c.90-1G>C
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1149+1G>A
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
NM_022132.5(MCCC2):c.1574+1G>A rs730880265
NM_022132.5(MCCC2):c.1574+1G>T
NM_022132.5(MCCC2):c.281+1G>T rs1580273474
NM_022132.5(MCCC2):c.282-9_285del
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_025136.4(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.1A>G (p.Met1Val)
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) rs1057516497
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) rs1555736814
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) rs1583589537
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
NM_052845.4(MMAB):c.290+1G>A
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
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.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu)
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.15_16del (p.Pro6fs) rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.1A>G (p.Met1Val) rs1553957856
NM_172250.3(MMAA):c.206del (p.Thr69fs) rs1553957901
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)
NM_172250.3(MMAA):c.562+1G>T rs869320656
NM_172250.3(MMAA):c.594dup (p.Glu199Ter) rs1553958395
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) rs1553958720
NM_172250.3(MMAA):c.820-1G>C
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) rs751717131

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