ClinVar Miner

List of variants reported as benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 676
Download table as spreadsheet
HGVS dbSNP
NM_000019.3(ACAT1):c.*214G>C rs145690535
NM_000019.3(ACAT1):c.*250C>T rs79179095
NM_000019.3(ACAT1):c.*293A>T rs73559273
NM_000019.3(ACAT1):c.*507G>A rs12271846
NM_000019.3(ACAT1):c.*555A>G rs111376037
NM_000019.3(ACAT1):c.*599A>C rs2280332
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.*179T>G rs114728153
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.-28T>A rs36216231
NM_000019.4(ACAT1):c.-9T>A rs3741055
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056
NM_000019.4(ACAT1):c.238+17C>T
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430
NM_000116.5(TAFAZZIN):c.110-17= rs62617809
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606
NM_000116.5(TAFAZZIN):c.778-63_778-51del
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000116.5(TAZ):c.-119= rs11388353
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938
NM_000191.3(HMGCL):c.61-17C>T rs56913973
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400
NM_000255.4(MMUT):c.*1326G>A rs9381784
NM_000255.4(MMUT):c.*580A>G rs11757098
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487
NM_000282.4(PCCA):c.1285-13_1285-6del
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.1845+10585T>C
NM_000282.4(PCCA):c.1846-9G>T rs141118743
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.468+11A>C rs187554010
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146
NM_000282.4(PCCA):c.914+19A>G rs4306370
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
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.-405T>C rs117476389
NM_000411.8(HLCS):c.-433C>T rs115711809
NM_000532.5(PCCB):c.1299+9C>A rs60968242
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999
NM_000532.5(PCCB):c.654+20T>C rs3821445
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_001081.3(CUBN):c.*134G>A rs780636
NM_001081.3(CUBN):c.*151G>A rs76742384
NM_001081.3(CUBN):c.*305T>G rs143326344
NM_001081.3(CUBN):c.*45C>T rs7085076
NM_001081.3(CUBN):c.*601A>G rs780635
NM_001081.3(CUBN):c.*737T>C rs114039309
NM_001081.3(CUBN):c.*781C>T rs115080396
NM_001081.3(CUBN):c.*93C>A rs111644764
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.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873
NM_001081.3(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.3(CUBN):c.109A>C (p.Ile37Leu) rs76788243
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.1911C>T (p.Leu637=) rs41289311
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2445C>T (p.Val815=) rs116350428
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.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.3417A>G (p.Leu1139=) rs1801228
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360
NM_001081.3(CUBN):c.4563T>A (p.Ile1521=) rs1801229
NM_001081.3(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231
NM_001081.3(CUBN):c.4872C>T (p.Ile1624=) rs114958584
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5134C>T (p.Leu1712=) rs2271468
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.5343-8C>A rs2271463
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
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.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.3(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303
NM_001081.3(CUBN):c.6124+8C>T rs2271461
NM_001081.3(CUBN):c.618C>T (p.Tyr206=) rs41289313
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.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.7346T>C (p.Met2449Thr) rs41301097
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.7868A>C (p.Glu2623Ala) rs115449747
NM_001081.3(CUBN):c.7913-11A>G rs7088988
NM_001081.3(CUBN):c.8139C>A (p.Thr2713=) rs147742103
NM_001081.3(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835
NM_001081.3(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8921C>T (p.Thr2974Met) rs374477671
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
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.910G>A (p.Glu304Lys) rs78201384
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.9491C>G (p.Ser3164Trp) rs57163243
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
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.*872T>C
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010
NM_001081.4(CUBN):c.7706-4T>C rs374979108
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029
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.120G>A (p.Ser40=) rs34972688
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1502-11_1502-9del
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.667-12C>T rs72817437
NM_001243279.3(ACSF3):c.667-13T>C rs139367843
NM_001243279.3(ACSF3):c.823-26T>C rs9921293
NM_001243279.3(ACSF3):c.823-6T>C rs76096111
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.996A>T (p.Ser332=) rs75591977
NM_001258392.3(CLPB):c.1122+16T>C rs187846751
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298
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.1935C>T (p.Leu645=) rs138717332
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137
NM_001258392.3(CLPB):c.404-16C>T rs371250603
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1484A>G rs78926199
NM_001352514.2(HLCS):c.*259T>C rs73398122
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056
NM_001352514.2(HLCS):c.*40A>G rs77014096
NM_001352514.2(HLCS):c.*521C>T rs9967991
NM_001352514.2(HLCS):c.*547C>T rs116526486
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1438-36G>A rs2073425
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-12T>C rs367728041
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1893-46G>T rs2073421
NM_001352514.2(HLCS):c.1893-6C>T rs139904712
NM_001352514.2(HLCS):c.1960+117A>T
NM_001352514.2(HLCS):c.1960+16T>A rs73398135
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2122-30G>A rs2073420
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2451-19C>T rs78671947
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.331-7111G>A rs77067023
NM_001352514.2(HLCS):c.494-13A>G rs76785742
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097
NM_001363880.1(MCCC1):c.-290G>C rs937652
NM_001370658.1(BTD):c.-94C>T rs114567021
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911
NM_001370658.1(BTD):c.151C>T (p.Leu51=) rs397514342
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.174C>T (p.Ser58=) rs397514344
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.384C>A (p.Arg128=) rs397514358
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001372123.1(IKZF5):c.-280C>T
NM_001609.3(ACADSB):c.*109G>A rs34955007
NM_001609.3(ACADSB):c.*1200A>T rs11248371
NM_001609.3(ACADSB):c.*1202G>A rs181209320
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*1972C>A rs187582823
NM_001609.3(ACADSB):c.*206A>C rs138299400
NM_001609.3(ACADSB):c.*2113G>A rs7922412
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*2957T>A rs115456304
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3299C>G rs116019965
NM_001609.3(ACADSB):c.*358T>C rs184796725
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4135G>A rs74159956
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*473G>C rs189484621
NM_001609.3(ACADSB):c.*497C>T rs12248648
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-87G>T rs150850221
NM_001609.3(ACADSB):c.-89G>T rs141443308
NM_001609.3(ACADSB):c.-97T>C rs148327034
NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.946A>G (p.Ile316Val) rs1131430
NM_001609.4(ACADSB):c.*133C>G
NM_001609.4(ACADSB):c.*2670C>T
NM_001609.4(ACADSB):c.*3736G>T
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.135G>A (p.Ala45=) rs774989333
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_001698.3(AUH):c.*200A>G
NM_002225.5(IVD):c.*1208G>A
NM_002225.5(IVD):c.*1471G>A rs4923865
NM_002225.5(IVD):c.*14C>T rs8040294
NM_002225.5(IVD):c.*1577C>G rs11630850
NM_002225.5(IVD):c.*1610C>T rs11630878
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*195C>T rs77680513
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2275T>C rs11790
NM_002225.5(IVD):c.*2285C>G rs114657778
NM_002225.5(IVD):c.*261G>A rs2075624
NM_002225.5(IVD):c.*2844T>C rs7207
NM_002225.5(IVD):c.*2912G>A rs11557072
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*447C>G rs79191320
NM_002225.5(IVD):c.*596G>A rs115034694
NM_002225.5(IVD):c.*808C>G rs2075625
NM_002225.5(IVD):c.*825C>A
NM_002225.5(IVD):c.-48G>A rs114259808
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.235-18G>A rs78272986
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.551-18C>T rs142064071
NM_002225.5(IVD):c.597C>T (p.Gly199=)
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023
NM_005050.4(ABCD4):c.1028+6G>T rs115783644
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157
NM_005050.4(ABCD4):c.1560-12A>C rs74061802
NM_005050.4(ABCD4):c.1636+10C>T rs74061801
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005050.4(ABCD4):c.1752+5C>T rs370270229
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370
NM_005050.4(ABCD4):c.668+7C>T rs61757464
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463
NM_005050.4(ABCD4):c.669-13T>G rs144451801
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.815-13G>C rs74063815
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078
NM_005334.3(HCFC1):c.1085-12G>A rs3027893
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572
NM_005334.3(HCFC1):c.503+14C>G rs371163886
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512
NM_005334.3(HCFC1):c.5379+20G>A
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439
NM_005334.3(HCFC1):c.713-13C>T rs59607260
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) rs144074606
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.438+9A>T rs201813923
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989
NM_014362.4(HIBCH):c.517+15T>A rs291417
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841
NM_014384.2(ACAD8):c.*168G>A rs144390733
NM_014384.2(ACAD8):c.*277C>T rs75645586
NM_014384.2(ACAD8):c.*377C>T rs74738493
NM_014384.2(ACAD8):c.1195+12C>T rs75333832
NM_014384.2(ACAD8):c.20G>C (p.Arg7Pro) rs35181923
NM_014384.2(ACAD8):c.210+6C>T rs148089913
NM_014384.2(ACAD8):c.211-4A>G rs517424
NM_014384.2(ACAD8):c.512C>G (p.Ser171Cys) rs113488591
NM_014384.2(ACAD8):c.841+7T>C rs77368661
NM_014384.2(ACAD8):c.842-8C>G rs201188279
NM_014384.3(ACAD8):c.*190C>T
NM_014384.3(ACAD8):c.*195G>C
NM_014384.3(ACAD8):c.*202A>C
NM_014384.3(ACAD8):c.*683A>G
NM_014384.3(ACAD8):c.801C>T (p.Leu267=) rs36115758
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.3(MMACHC):c.276+214dup rs3215980
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015702.3(MMADHC):c.*126A>G rs6923
NM_015702.3(MMADHC):c.*164A>G rs147662711
NM_015702.3(MMADHC):c.*89T>C rs6742604
NM_015702.3(MMADHC):c.-49T>C rs79997772
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.478+6T>G rs13402787
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_018368.4(LMBRD1):c.*341C>T rs9185
NM_018368.4(LMBRD1):c.*395T>C rs80330045
NM_018368.4(LMBRD1):c.-117C>T rs550933505
NM_018368.4(LMBRD1):c.-18T>A rs202192515
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795
NM_018368.4(LMBRD1):c.562+18T>A rs183663902
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.980+11T>C rs114726590
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-11A>T rs75847296
NM_020166.5(MCCC1):c.-24A>G rs11540930
NM_020166.5(MCCC1):c.-25C>A rs149741951
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1594+39T>C rs2270969
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1681+77C>T
NM_020166.5(MCCC1):c.1732-208T>C
NM_020166.5(MCCC1):c.1978-57G>T
NM_020166.5(MCCC1):c.1978-86A>C
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020166.5(MCCC1):c.369+96C>T
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.874-12dup rs755494348
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707
NM_022132.5(MCCC2):c.*1198C>T rs277975
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*1466T>C
NM_022132.5(MCCC2):c.*1573C>G rs112693079
NM_022132.5(MCCC2):c.*247C>T rs1135667
NM_022132.5(MCCC2):c.*593G>T rs60069076
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.282-7G>A rs115078899
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.904-12A>G rs277984
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*1387C>T rs73568986
NM_025136.4(OPA3):c.*152G>A rs3826861
NM_025136.4(OPA3):c.*1950G>A rs4404183
NM_025136.4(OPA3):c.*2485G>A rs8106584
NM_025136.4(OPA3):c.*272G>A rs7246349
NM_025136.4(OPA3):c.*3038G>A rs73568982
NM_025136.4(OPA3):c.*3111_*3113AGC[3] rs542311224
NM_025136.4(OPA3):c.*3212G>A rs79317386
NM_025136.4(OPA3):c.*3387G>A rs3760844
NM_025136.4(OPA3):c.*3531G>T rs112899014
NM_025136.4(OPA3):c.*3722G>A rs73568973
NM_025136.4(OPA3):c.*3874G>A rs62109650
NM_025136.4(OPA3):c.*3878A>G rs79660166
NM_025136.4(OPA3):c.*3972C>T rs147972697
NM_025136.4(OPA3):c.*4132_*4136CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*4318T>C rs4802261
NM_025136.4(OPA3):c.*4672G>A rs11669246
NM_025136.4(OPA3):c.*4696_*4699ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*5523G>A rs57585727
NM_025136.4(OPA3):c.*5525C>T rs117230006
NM_025136.4(OPA3):c.*577T>C rs112654759
NM_025136.4(OPA3):c.*6012A>G rs11083772
NM_025136.4(OPA3):c.*6275T>C rs74689727
NM_025136.4(OPA3):c.*638T>A rs150575877
NM_025136.4(OPA3):c.*6790T>C rs10422253
NM_025136.4(OPA3):c.*7015G>A rs112948303
NM_025136.4(OPA3):c.*986del rs377547137
NM_025136.4(OPA3):c.-38A>G rs45527139
NM_025136.4(OPA3):c.142+69G>C
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522
NM_032601.4(MCEE):c.*262G>A rs72903553
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280
NM_032601.4(MCEE):c.120T>C (p.Gly40=) rs373053776
NM_032601.4(MCEE):c.227C>T (p.Ala76Val) rs11541017
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_032601.4(MCEE):c.428G>A (p.Arg143His) rs115175255
NM_032861.4(SERAC1):c.1016-11C>T rs41269577
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641
NM_032861.4(SERAC1):c.1308+17C>A
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453
NM_032861.4(SERAC1):c.1403+12G>A rs117813106
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274
NM_032861.4(SERAC1):c.355+11A>G rs9356399
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105
NM_032861.4(SERAC1):c.487+19C>T
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699
NM_032861.4(SERAC1):c.739-10T>G rs118093738
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513
NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.4(MMAB):c.*1005A>G rs67432283
NM_052845.4(MMAB):c.*1230G>T rs11067231
NM_052845.4(MMAB):c.*1467C>T rs1061440
NM_052845.4(MMAB):c.*1535G>A rs34921355
NM_052845.4(MMAB):c.*1657G>A rs111869218
NM_052845.4(MMAB):c.*1729A>C rs559163901
NM_052845.4(MMAB):c.*1810G>A rs73414076
NM_052845.4(MMAB):c.*192T>C rs8228
NM_052845.4(MMAB):c.*1952T>C rs61940463
NM_052845.4(MMAB):c.*2628C>T rs73414074
NM_052845.4(MMAB):c.*2684G>C rs35145546
NM_052845.4(MMAB):c.*2701G>C rs2241201
NM_052845.4(MMAB):c.*2835T>C rs12817689
NM_052845.4(MMAB):c.*3148G>A rs11067227
NM_052845.4(MMAB):c.*3178C>A rs73414071
NM_052845.4(MMAB):c.*374T>A
NM_052845.4(MMAB):c.*376T>A rs527861371
NM_052845.4(MMAB):c.*378T>A rs66497319
NM_052845.4(MMAB):c.*380A>T rs74967596
NM_052845.4(MMAB):c.*564G>C rs56760240
NM_052845.4(MMAB):c.*625G>C rs11067233
NM_052845.4(MMAB):c.*656C>A rs11067232
NM_052845.4(MMAB):c.*721T>G rs11831226
NM_052845.4(MMAB):c.*857G>C rs877710
NM_052845.4(MMAB):c.*891C>A rs877709
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.349-17T>C rs72650187
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_145261.4(DNAJC19):c.210-7T>A rs779367415
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670
NM_172250.3(MMAA):c.*1782A>G rs114134771
NM_172250.3(MMAA):c.*2142T>C rs72723824
NM_172250.3(MMAA):c.*2372T>A rs74719174
NM_172250.3(MMAA):c.*2608T>C rs7699187
NM_172250.3(MMAA):c.*2658G>A rs72723825
NM_172250.3(MMAA):c.*2768A>T rs7699166
NM_172250.3(MMAA):c.*2866A>G rs17020500
NM_172250.3(MMAA):c.*306T>A rs74409983
NM_172250.3(MMAA):c.*3621G>A rs55770806
NM_172250.3(MMAA):c.*3824C>A rs72950842
NM_172250.3(MMAA):c.*4336A>G rs138752110
NM_172250.3(MMAA):c.*434C>T rs72950841
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.734-74G>A
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553

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