ClinVar Miner

List of variants studied for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14905
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_001609.4(ACADSB):c.1129-90A>G rs2421166 0.98530
NM_001609.4(ACADSB):c.*3234C>G rs3763738 0.98476
NM_001609.4(ACADSB):c.*3819A>G rs3980942 0.98475
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93354
NM_000191.3(HMGCL):c.252+34T>C rs2076344 0.92735
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122 0.91794
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_001609.4(ACADSB):c.*1868C>G rs10902868 0.88218
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.738+36G>A rs12516456 0.80304
NM_022132.5(MCCC2):c.*1243G>C rs7731970 0.80030
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_022132.5(MCCC2):c.*247C>T rs1135667 0.78164
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180 0.72415
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200 0.72412
NM_001243279.3(ACSF3):c.-20-129C>T rs7195892 0.72305
NM_001243279.3(ACSF3):c.-20-4C>G rs57558972 0.72289
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528 0.72028
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527 0.72026
NM_001243279.3(ACSF3):c.667-77G>C rs4782458 0.72002
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255 0.71937
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529 0.71928
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_001243279.3(ACSF3):c.822+38C>G rs4782456 0.71783
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_032861.4(SERAC1):c.129-34C>G rs6929520 0.71770
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) rs3743979 0.71214
NM_001243279.3(ACSF3):c.822+145T>C rs4782455 0.71040
NM_001243279.3(ACSF3):c.667-31T>C rs4782457 0.71038
NM_001243279.3(ACSF3):c.667-101T>C rs7200676 0.71025
NM_001243279.3(ACSF3):c.666+37C>T rs8060043 0.70606
NM_001243279.3(ACSF3):c.1239+57G>C rs3743983 0.70590
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321 0.69890
NM_001243279.3(ACSF3):c.822+53_822+54del rs10578141 0.69831
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_022132.5(MCCC2):c.1575-64A>G rs7443786 0.69711
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_001243279.3(ACSF3):c.666+199T>C rs7194257 0.67347
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_001243279.3(ACSF3):c.1126+40G>T rs3743980 0.65690
NM_002225.5(IVD):c.688-85A>G rs2289330 0.65147
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_001001563.5(TIMM50):c.108+21C>G rs2304221 0.62299
NM_002225.5(IVD):c.457-120C>T rs8034416 0.61186
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.60848
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_001372123.1(IKZF5):c.-280C>T rs2277250 0.59177
NM_002225.5(IVD):c.*2275T>C rs11790 0.59170
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_052845.4(MMAB):c.348+105T>C rs10850380 0.58164
NM_052845.4(MMAB):c.584+254A>G rs2058805 0.58162
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_052845.4(MMAB):c.*1230G>T rs11067231 0.57792
NM_052845.4(MMAB):c.*857G>C rs877710 0.57567
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_002225.5(IVD):c.*1471G>A rs4923865 0.56828
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54587
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466 0.52671
NM_172250.3(MMAA):c.*2608T>C rs7699187 0.51441
NM_172250.3(MMAA):c.*2768A>T rs7699166 0.51403
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_000019.4(ACAT1):c.435+78A>C rs10890817 0.49701
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_002225.5(IVD):c.*1577C>G rs11630850 0.47386
NM_002225.5(IVD):c.*808C>G rs2075625 0.45103
NM_002225.5(IVD):c.*2844T>C rs7207 0.45094
NM_002225.5(IVD):c.*1610C>T rs11630878 0.44933
NM_001609.4(ACADSB):c.*262C>T rs12248515 0.43449
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_032861.4(SERAC1):c.355+11A>G rs9356399 0.42562
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_022132.5(MCCC2):c.803+71C>T rs277981 0.41735
NM_022132.5(MCCC2):c.739-92G>A rs277980 0.41731
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384 0.41433
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589 0.41022
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_001001563.5(TIMM50):c.597+38T>C rs1865094 0.37722
NM_000255.4(MMUT):c.1083+57C>T rs7769646 0.37023
NM_000532.5(PCCB):c.967-46A>G rs9833162 0.36992
NM_001609.4(ACADSB):c.*4467A>T rs6838 0.36866
NM_002225.5(IVD):c.688-31T>C rs2289329 0.35913
NM_000282.4(PCCA):c.1845+10585T>C rs2760311 0.35905
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_052845.4(MMAB):c.*2701G>C rs2241201 0.33323
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_052845.4(MMAB):c.290+63T>C rs11836136 0.32654
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000255.4(MMUT):c.1333-185A>G rs4715130 0.30091
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys) rs12263012 0.30009
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000255.4(MMUT):c.*1326G>A rs9381784 0.29445
NM_000019.3(ACAT1):c.*599A>C rs2280332 0.28837
NM_172250.3(MMAA):c.734-74G>A rs11721510 0.28813
NM_022132.5(MCCC2):c.*1198C>T rs277975 0.28389
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_000191.3(HMGCL):c.877-72T>C rs2076343 0.27156
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000019.4(ACAT1):c.1005+25C>T rs10890819 0.26160
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) rs12447947 0.24857
NM_052845.4(MMAB):c.*3148G>A rs11067227 0.24433
NM_052845.4(MMAB):c.*625G>C rs11067233 0.24420
NM_052845.4(MMAB):c.*891C>A rs877709 0.24416
NM_000019.4(ACAT1):c.238+134A>C rs7931681 0.23898
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_001609.4(ACADSB):c.*545G>A rs1140593 0.22894
NM_000282.4(PCCA):c.106-93G>A rs2184382 0.22830
NM_172250.3(MMAA):c.*2866A>G rs17020500 0.22820
NM_001609.4(ACADSB):c.639C>T (p.His213=) rs1140591 0.22709
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_000255.4(MMUT):c.1676+77A>C rs9381786 0.21722
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000255.4(MMUT):c.912-110C>T rs9369901 0.20713
NM_001609.4(ACADSB):c.*2331C>G rs7079265 0.20119
NM_001609.4(ACADSB):c.*2175A>C rs7909871 0.20108
NM_001609.4(ACADSB):c.*4426T>C rs7732 0.19948
NM_001001563.5(TIMM50):c.696+38G>A rs8112528 0.19648
NM_001609.4(ACADSB):c.*2490T>C rs7914164 0.19560
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_052845.4(MMAB):c.*1535G>A rs34921355 0.17160
NM_052845.4(MMAB):c.*2835T>C rs12817689 0.17090
NM_000282.4(PCCA):c.414+88A>G rs9585365 0.16939
NM_052845.4(MMAB):c.*2684G>C rs35145546 0.16925
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_000282.4(PCCA):c.468+51G>A rs35055557 0.16099
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000282.4(PCCA):c.637+102A>G rs539158 0.14245
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_000282.4(PCCA):c.1846-104C>G rs1283292 0.12185
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_052845.4(MMAB):c.*1467C>T rs1061440 0.10807
NM_052845.4(MMAB):c.*192T>C rs8228 0.10802
NM_052845.4(MMAB):c.*1952T>C rs61940463 0.10789
NM_052845.4(MMAB):c.*1810G>A rs73414076 0.10702
NM_001609.4(ACADSB):c.*1200A>T rs11248371 0.10587
NM_001609.4(ACADSB):c.*2113G>A rs7922412 0.10506
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.*580A>G rs11757098 0.10433
NM_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191 0.09452
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_022132.5(MCCC2):c.*593G>T rs60069076 0.09309
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_052845.4(MMAB):c.*721T>G rs11831226 0.09002
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_002225.5(IVD):c.*2912G>A rs11557072 0.08940
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_052845.4(MMAB):c.*378T>A rs66497319 0.08528
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_022132.5(MCCC2):c.738+132C>T rs77085070 0.08077
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07555
NM_172250.3(MMAA):c.*3621G>A rs55770806 0.07335
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_005050.4(ABCD4):c.1560-12A>C rs74061802 0.06985
NM_005050.4(ABCD4):c.668+7C>T rs61757464 0.06982
NM_005050.4(ABCD4):c.1636+10C>T rs74061801 0.06981
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534 0.06974
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976 0.06972
NM_005050.4(ABCD4):c.815-13G>C rs74063815 0.06964
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000 0.06963
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_020166.5(MCCC1):c.1594+39T>C rs2270969 0.06776
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06739
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_052845.4(MMAB):c.*656C>A rs11067232 0.06631
NM_172250.3(MMAA):c.-56A>G rs4835011 0.06388
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_001609.4(ACADSB):c.946A>G (p.Ile316Val) rs1131430 0.06319
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_052845.4(MMAB):c.*1729A>C rs559163901 0.06120
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_052845.4(MMAB):c.*376T>A rs527861371 0.05729
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_052845.4(MMAB):c.*1005A>G rs67432283 0.05428
NM_052845.4(MMAB):c.*1409G>A rs72650177 0.05424
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_052845.4(MMAB):c.*1657G>A rs111869218 0.05172
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_014384.3(ACAD8):c.*190C>T rs111296476 0.04945
NM_014384.3(ACAD8):c.*377C>T rs74738493 0.04945
NM_014384.3(ACAD8):c.*202A>C rs79738869 0.04943
NM_014384.3(ACAD8):c.841+7T>C rs77368661 0.04943
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_014384.3(ACAD8):c.1195+12C>T rs75333832 0.04799
NM_014384.3(ACAD8):c.*195G>C rs113572770 0.04796
NM_014384.3(ACAD8):c.*277C>T rs75645586 0.04668
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_032861.4(SERAC1):c.1016-11C>T rs41269577 0.04319
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_172250.3(MMAA):c.*2142T>C rs72723824 0.03954
NM_172250.3(MMAA):c.*2658G>A rs72723825 0.03953
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) rs11547019 0.03850
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_172250.3(MMAA):c.*306T>A rs74409983 0.03738
NM_001352514.2(HLCS):c.1960+16T>A rs73398135 0.03462
NM_001243279.3(ACSF3):c.667-12C>T rs72817437 0.03381
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_172250.3(MMAA):c.*3285G>A rs142885287 0.03017
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_172250.3(MMAA):c.*2364A>G rs13129907 0.02803
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_002225.5(IVD):c.*596G>A rs115034694 0.02695
NM_002225.5(IVD):c.*195C>T rs77680513 0.02693
NM_032861.4(SERAC1):c.1403+12G>A rs117813106 0.02692
NM_002225.5(IVD):c.*447C>G rs79191320 0.02689
NM_001609.3(ACADSB):c.-123G>A rs72839755 0.02536
NM_001243279.3(ACSF3):c.1367-13C>G rs140859425 0.02493
NM_052845.4(MMAB):c.*3178C>A rs73414071 0.02490
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_052845.4(MMAB):c.*2628C>T rs73414074 0.02477
NM_014362.4(HIBCH):c.517+15T>A rs291417 0.02472
NM_052845.4(MMAB):c.*564G>C rs56760240 0.02466
NM_052845.4(MMAB):c.*374T>A rs549601416 0.02435
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977 0.02239
NM_172250.3(MMAA):c.*2372T>A rs74719174 0.02233
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_002225.5(IVD):c.1066-5C>T rs115077254 0.02192
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_001609.4(ACADSB):c.*497C>T rs12248648 0.02030
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_002225.5(IVD):c.*14C>T rs8040294 0.02023
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939 0.02006
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001609.4(ACADSB):c.*4135G>A rs74159956 0.01990
NM_022132.5(MCCC2):c.*1573C>G rs112693079 0.01960
NM_001609.4(ACADSB):c.*2670C>T rs144203038 0.01950
NM_001352514.2(HLCS):c.*1484A>G rs78926199 0.01946
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser) rs74832989 0.01849
NM_001698.3(AUH):c.*107A>G rs75505223 0.01845
NM_000019.3(ACAT1):c.*555A>G rs111376037 0.01843
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp) rs61752508 0.01780
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203 0.01762
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_001609.4(ACADSB):c.168A>G (p.Thr56=) rs34221067 0.01697
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641 0.01607
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_001195087.2(GGACT):c.*1904_*1907del rs200007489 0.01517
NM_052845.4(MMAB):c.*380A>T rs74967596 0.01505
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_172250.3(MMAA):c.*434C>T rs72950841 0.01492
NM_002225.5(IVD):c.*1208G>A rs7165233 0.01462
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_001609.4(ACADSB):c.*109G>A rs34955007 0.01422
NM_172250.3(MMAA):c.*3824C>A rs72950842 0.01396
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_172250.3(MMAA):c.*4336A>G rs138752110 0.01347
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_172250.3(MMAA):c.*1782A>G rs114134771 0.01301
NM_001609.3(ACADSB):c.-97T>C rs148327034 0.01294
NM_022132.5(MCCC2):c.*1351G>A rs144494459 0.01269
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224 0.01204
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp) rs35135520 0.01198
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000019.4(ACAT1):c.*179T>G rs114728153 0.01185
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_025136.4(OPA3):c.*2469G>A rs115566341 0.01165
NM_000019.3(ACAT1):c.*250C>T rs79179095 0.01146
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_022132.5(MCCC2):c.*245T>C rs11551918 0.01133
NM_022132.5(MCCC2):c.*1080G>T rs7727902 0.01132
NM_022132.5(MCCC2):c.*1381A>C rs115650149 0.01118
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro) rs35181923 0.01086
NM_002225.5(IVD):c.235-18G>A rs78272986 0.01081
NM_002225.5(IVD):c.-48G>A rs114259808 0.01080
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) rs59213357 0.01079
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_000019.3(ACAT1):c.*258G>A rs79764488 0.01061
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_000019.3(ACAT1):c.*293A>T rs73559273 0.00975
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_000019.3(ACAT1):c.*507G>A rs12271846 0.00968
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_000191.2(HMGCL):c.-59A>C rs188188846 0.00929
NM_014384.3(ACAD8):c.211-4A>G rs517424 0.00927
NM_001243279.3(ACSF3):c.667-13T>C rs139367843 0.00923
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_001243279.3(ACSF3):c.1367-6C>T rs113343336 0.00901
NM_001243279.3(ACSF3):c.1126+4C>T rs73254029 0.00878
NM_001609.3(ACADSB):c.-87G>T rs150850221 0.00878
NM_001609.3(ACADSB):c.-89G>T rs141443308 0.00878
NM_022132.5(MCCC2):c.*577T>A rs150412501 0.00871
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_000019.3(ACAT1):c.*214G>C rs145690535 0.00839
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728 0.00839
NM_005050.4(ABCD4):c.1028+6G>T rs115783644 0.00836
NM_005050.4(ABCD4):c.669-13T>G rs144451801 0.00836
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_172250.3(MMAA):c.*600G>A rs112882351 0.00820
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_020166.5(MCCC1):c.874-95A>G rs144420749 0.00802
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_001609.4(ACADSB):c.*3130A>G rs41291348 0.00783
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721 0.00764
NM_001352514.2(HLCS):c.494-13A>G rs76785742 0.00759
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_052845.3(MMAB):c.-180C>T rs66486014 0.00733
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
NM_032861.4(SERAC1):c.1684+168T>C rs141960153 0.00719
NM_032861.4(SERAC1):c.1684+209T>C rs148162521 0.00718
NM_014384.3(ACAD8):c.801C>T (p.Leu267=) rs36115758 0.00717
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822 0.00711
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_001195087.2(GGACT):c.*1849G>A rs41281122 0.00704
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_014384.3(ACAD8):c.*168G>A rs144390733 0.00658
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_014362.4(HIBCH):c.1038T>A (p.Val346=) rs13406709 0.00643
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_000255.4(MMUT):c.1333-18T>G rs111667453 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_000532.4(PCCB):c.-37C>T rs145734157 0.00591
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_025136.4(OPA3):c.*2696C>G rs148705681 0.00585
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_052845.4(MMAB):c.349-17T>C rs72650187 0.00583
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_052845.4(MMAB):c.*3019A>G rs78065254 0.00564
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_005050.4(ABCD4):c.543-14T>C rs79311122 0.00556
NM_032861.4(SERAC1):c.739-10T>G rs118093738 0.00555
NM_001609.4(ACADSB):c.*3907C>G rs185346880 0.00554
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_014384.3(ACAD8):c.*683A>G rs112534410 0.00538
NM_001609.4(ACADSB):c.*1972C>A rs187582823 0.00537
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_000191.3(HMGCL):c.*194C>G rs192071003 0.00530
NM_002225.3(IVD):c.-79C>G rs574064968 0.00526
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_002225.5(IVD):c.*2630G>A rs28654574 0.00497
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_001001563.5(TIMM50):c.598-15C>T rs45611439 0.00486
NM_014362.4(HIBCH):c.663+19G>T rs75352449 0.00485
NM_000255.4(MMUT):c.*278A>G rs182726681 0.00484
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00480
NM_172250.3(MMAA):c.*2807C>T rs7675466 0.00480
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_020166.5(MCCC1):c.-25C>A rs149741951 0.00453
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_018368.4(LMBRD1):c.1509+20G>C rs116095397 0.00424
NM_172250.3(MMAA):c.*541A>G rs114729477 0.00424
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_022132.5(MCCC2):c.-38G>A rs186132078 0.00403
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) rs147597284 0.00391
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_001370658.1(BTD):c.*211G>A rs78601074 0.00384
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023 0.00378
NM_001609.4(ACADSB):c.786G>A (p.Pro262=) rs76111609 0.00373
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_001609.4(ACADSB):c.*1202G>A rs181209320 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_001609.4(ACADSB):c.*473G>C rs189484621 0.00370
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) rs141088268 0.00369
NM_001609.4(ACADSB):c.*2803T>C rs187253795 0.00365
NM_018368.4(LMBRD1):c.562+18T>A rs183663902 0.00364
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00363
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_001609.4(ACADSB):c.*30G>A rs141805585 0.00359
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_000255.4(MMUT):c.1083+20T>C rs200148994 0.00356
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) rs138395741 0.00346
NM_000255.4(MMUT):c.*34A>G rs199933641 0.00345
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_022132.5(MCCC2):c.*526C>T rs181669670 0.00339
NM_000191.3(HMGCL):c.61-17C>T rs56913973 0.00337
NM_172250.3(MMAA):c.*1966C>T rs147742767 0.00337
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_001609.4(ACADSB):c.*3299C>G rs116019965 0.00328
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303 0.00324
NM_001243279.3(ACSF3):c.823-26T>C rs9921293 0.00317
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672 0.00316
NM_000255.4(MMUT):c.*101G>A rs113025987 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_002225.5(IVD):c.*2850A>G rs147367220 0.00311
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_052845.4(MMAB):c.*3295C>T rs144430513 0.00304
NM_172250.3(MMAA):c.*4326A>T rs182426004 0.00304
NM_052845.4(MMAB):c.*1088A>T rs142486697 0.00303
NM_001017989.3(OPA3):c.143-16812G>A rs192699227 0.00300
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_001609.4(ACADSB):c.*808G>C rs41299169 0.00297
NM_001698.3(AUH):c.*200A>G rs113687423 0.00297
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00290
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001352514.2(HLCS):c.2451-19C>T rs78671947 0.00290
NM_172250.3(MMAA):c.*1610C>T rs185925141 0.00285
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_000255.4(MMUT):c.*627C>T rs534290000 0.00272
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635 0.00270
NM_001609.4(ACADSB):c.92A>G (p.His31Arg) rs57321698 0.00270
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849 0.00262
NM_001195087.2(GGACT):c.*1805A>C rs113356477 0.00260
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_000255.4(MMUT):c.*126A>G rs192605776 0.00255
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_000255.4(MMUT):c.*558A>G rs111322712 0.00254
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513 0.00253
NM_000019.4(ACAT1):c.-28T>A rs36216231 0.00247
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_052845.4(MMAB):c.*2186T>C rs147647465 0.00246
NM_052845.4(MMAB):c.*1685G>A rs117011771 0.00244
NM_172250.3(MMAA):c.*4533C>T rs114762906 0.00244
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) rs115776284 0.00242
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) rs183159791 0.00242
NM_001609.4(ACADSB):c.*3517A>G rs147760289 0.00241
NM_052845.4(MMAB):c.*404T>G rs148289390 0.00240
NM_014362.4(HIBCH):c.214C>T (p.Leu72=) rs149479887 0.00238
NM_000255.4(MMUT):c.*257A>C rs187747098 0.00235
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_172250.3(MMAA):c.*188A>G rs886059091 0.00233
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921 0.00231
NM_001609.4(ACADSB):c.*2086G>A rs150796883 0.00231
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524 0.00228
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062 0.00228
NM_014384.3(ACAD8):c.842-8C>G rs201188279 0.00227
NM_014362.4(HIBCH):c.243T>G (p.Thr81=) rs144074606 0.00226
NM_052845.4(MMAB):c.*1067C>T rs143292900 0.00226
NM_025136.4(OPA3):c.*3755G>A rs555830952 0.00225
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_001352514.2(HLCS):c.*590A>G rs148195019 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000282.4(PCCA):c.1257G>A (p.Gln419=) rs147839487 0.00201
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_001609.4(ACADSB):c.*358T>C rs184796725 0.00198
NM_000532.5(PCCB):c.*44C>T rs201452852 0.00197
NM_001609.4(ACADSB):c.*2227A>G rs149926796 0.00192
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_000532.5(PCCB):c.373-1292C>T rs117604575 0.00188
NM_002225.5(IVD):c.235-19T>C rs144063157 0.00186
NM_000191.3(HMGCL):c.*104G>A rs552915017 0.00185
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_001609.4(ACADSB):c.*1326A>G rs185596588 0.00179
NM_000255.4(MMUT):c.-78C>A rs553218776 0.00178
NM_000255.4(MMUT):c.-79G>A rs184509406 0.00178
NM_172250.3(MMAA):c.*97G>C rs148424051 0.00178
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_000191.3(HMGCL):c.497+19G>A rs187735179 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_001352514.2(HLCS):c.*1856T>C rs151042283 0.00171
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137 0.00170
NM_172250.3(MMAA):c.*3325C>T rs529131828 0.00170
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_022132.5(MCCC2):c.*191A>T rs142332769 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_172250.3(MMAA):c.-66+10G>C rs546775043 0.00165
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_172250.3(MMAA):c.-14C>T rs138947726 0.00164
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00163
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_052845.4(MMAB):c.*2342G>A rs72650176 0.00162
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323 0.00157
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_172250.3(MMAA):c.*1988A>T rs141116337 0.00156
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053 0.00151
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_001258392.3(CLPB):c.1122+16T>C rs187846751 0.00147
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00146
NM_000282.4(PCCA):c.828T>C (p.Gly276=) rs143838146 0.00143
NM_001609.4(ACADSB):c.*1826C>T rs568834686 0.00143
NM_022132.5(MCCC2):c.*1466T>C rs148015309 0.00143
NM_001352514.2(HLCS):c.*2921A>G rs555149143 0.00141
NM_001352514.2(HLCS):c.*2243C>T rs554230015 0.00140
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_001609.4(ACADSB):c.*277A>T rs149609453 0.00139
NM_000532.5(PCCB):c.1299+9C>A rs60968242 0.00137
NM_001195087.2(GGACT):c.*1774G>C rs41281124 0.00137
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_002225.5(IVD):c.*131G>A rs190115786 0.00135
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_172250.3(MMAA):c.*3035A>C rs576544645 0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_052845.4(MMAB):c.-4G>C rs372195202 0.00134
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799 0.00133
NM_001243279.3(ACSF3):c.822+18C>T rs370191947 0.00132
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_000019.3(ACAT1):c.*553T>A rs183999318 0.00131
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
NM_001609.4(ACADSB):c.1014C>T (p.His338=) rs57339164 0.00125
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_145261.4(DNAJC19):c.281-12T>C rs141982712 0.00123
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534 0.00121
NM_001352514.2(HLCS):c.*3162T>C rs552016201 0.00118
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_025136.4(OPA3):c.*2490C>T rs11671670 0.00117
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_001698.3(AUH):c.*29G>A rs200499826 0.00116
NM_001352514.2(HLCS):c.*2163A>G rs139776215 0.00115
NM_020166.5(MCCC1):c.*6A>C rs199827064 0.00112
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001609.4(ACADSB):c.*285T>C rs552366364 0.00111
NM_001698.3(AUH):c.135G>A (p.Ala45=) rs774989333 0.00111
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_052845.4(MMAB):c.*1988C>T rs183354300 0.00111
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397 0.00110
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001352514.2(HLCS):c.2121+11T>A rs371974889 0.00105
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102 0.00104
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_001352514.2(HLCS):c.*2444C>T rs546201018 0.00103
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_000019.4(ACAT1):c.480A>G (p.Pro160=) rs141131039 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_022132.5(MCCC2):c.*819G>A rs565662004 0.00100
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_002225.5(IVD):c.*1240T>A rs146819701 0.00099
NM_001609.4(ACADSB):c.*2529G>A rs182831006 0.00098
NM_001609.4(ACADSB):c.*3390C>A rs751677400 0.00098
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228 0.00098
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754 0.00096
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys) rs188205145 0.00096
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_022132.5(MCCC2):c.*552C>T rs544574975 0.00093
NM_001609.4(ACADSB):c.*2174A>G rs577027224 0.00092
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_025136.4(OPA3):c.*5357G>A rs549141863 0.00092
NM_172250.3(MMAA):c.*342A>G rs886059093 0.00092
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_052845.4(MMAB):c.*2023C>T rs546885397 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_014384.3(ACAD8):c.211-20C>T rs200508056 0.00089
NM_000019.3(ACAT1):c.-70T>A rs566741161 0.00088
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332 0.00088
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506 0.00085
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
NM_000282.4(PCCA):c.1065+5C>T rs201597816 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) rs148969539 0.00083
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_002225.5(IVD):c.*1376G>A rs536344215 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_020166.5(MCCC1):c.*45A>T rs186406584 0.00081
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018 0.00079
NM_001243279.3(ACSF3):c.1614-12T>C rs373509783 0.00079
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_014362.4(HIBCH):c.438+9A>T rs201813923 0.00078
NM_172250.3(MMAA):c.*192G>A rs188845060 0.00078
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078 0.00077
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_014384.3(ACAD8):c.*652C>G rs139716145 0.00076
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_015506.3(MMACHC):c.798C>T (p.Ala266=) rs201813445 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_000532.5(PCCB):c.-34G>A rs372649775 0.00074
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_172250.3(MMAA):c.*1952T>C rs79927727 0.00074
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309 0.00072
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_001698.3(AUH):c.140C>T (p.Pro47Leu) rs200564356 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_022132.5(MCCC2):c.511+7dup rs200382661 0.00068
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_002225.5(IVD):c.*290dup rs529793013 0.00067
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00067
NM_000532.5(PCCB):c.*91C>A rs115533065 0.00066
NM_001609.4(ACADSB):c.*206A>C rs138299400 0.00066
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_002225.5(IVD):c.*2235G>A rs189359145 0.00065
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026 0.00064
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_014362.4(HIBCH):c.36-13A>T rs199859881 0.00064
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_002225.5(IVD):c.*2070C>T rs187887699 0.00062
NM_015702.3(MMADHC):c.741A>G (p.Glu247=) rs146820547 0.00062
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_000255.4(MMUT):c.1444+13G>A rs374285380 0.00061
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507 0.00061
NM_001352514.2(HLCS):c.331-7076C>T rs541806392 0.00061
NM_020166.5(MCCC1):c.1731+6C>A rs369754994 0.00061
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_001352514.2(HLCS):c.*2814C>T rs146199781 0.00059
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300 0.00059
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_001609.4(ACADSB):c.1228+8G>C rs202191462 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606 0.00056
NM_001352514.2(HLCS):c.*2545C>A rs180866987 0.00056
NM_001370658.1(BTD):c.252T>C (p.Asp84=) rs138545268 0.00056
NM_014384.3(ACAD8):c.*622C>T rs146349594 0.00056
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys) rs147116804 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_025136.4(OPA3):c.*6674T>C rs534603782 0.00056
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr) rs147447600 0.00055
NM_022132.5(MCCC2):c.*773C>T rs1013092369 0.00055
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_014384.3(ACAD8):c.110-17T>C rs372435194 0.00054
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val) rs149562178 0.00053
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001243279.3(ACSF3):c.978-7C>T rs190927208 0.00051
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_020166.5(MCCC1):c.-23C>T rs374636986 0.00051
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643 0.00050
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198 0.00050
NM_001370658.1(BTD):c.825C>T (p.Asn275=) rs145379955 0.00050
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) rs376756703 0.00050
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459 0.00050
NM_052845.4(MMAB):c.*3265A>G rs776804847 0.00050
NM_001258392.3(CLPB):c.1560+11T>C rs113954132 0.00049
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) rs201216516 0.00049
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954 0.00048
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707 0.00048
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_172250.3(MMAA):c.*3254A>C rs539831571 0.00048
NM_005050.4(ABCD4):c.1507-18C>T rs368891249 0.00047
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945 0.00046
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001609.4(ACADSB):c.*78C>T rs117078411 0.00046
NM_005050.4(ABCD4):c.425+13A>G rs370752716 0.00046
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416 0.00045
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670 0.00045
NM_032861.4(SERAC1):c.1404-3C>G rs367596327 0.00045
NM_000019.4(ACAT1):c.1164-15C>T rs185613183 0.00044
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001258392.3(CLPB):c.455+8G>C rs200993434 0.00044
NM_001698.3(AUH):c.*432C>T rs746233646 0.00044
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=) rs373886730 0.00044
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) rs780294227 0.00043
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser) rs142621386 0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu) rs144705277 0.00043
NM_001609.4(ACADSB):c.*972A>G rs529575388 0.00043
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn) rs145438308 0.00043
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731 0.00043
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro) rs774205809 0.00042
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001370658.1(BTD):c.411C>T (p.Arg137=) rs141240202 0.00041
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328 0.00041
NM_005050.4(ABCD4):c.1118+9C>T rs370581068 0.00041
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926 0.00041
NM_025136.4(OPA3):c.-7C>G rs199590627 0.00041
NM_052845.4(MMAB):c.*961G>A rs541447661 0.00041
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001258392.3(CLPB):c.159G>A (p.Gly53=) rs146260335 0.00040
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_022132.5(MCCC2):c.*548C>T rs933207621 0.00040
NM_025136.4(OPA3):c.*1213C>T rs539298843 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_032861.4(SERAC1):c.1308+7G>A rs201873667 0.00040
NM_172250.3(MMAA):c.*4103G>A rs191381122 0.00040
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095 0.00039
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_001698.3(AUH):c.730G>A (p.Asp244Asn) rs202182817 0.00039
NM_172250.3(MMAA):c.*2562C>T rs529092235 0.00039
NM_000255.4(MMUT):c.-135G>T rs778890521 0.00038
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=) rs138862492 0.00038
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_001258392.3(CLPB):c.776-10_776-8del rs572621494 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384 0.00037
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801 0.00037
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281 0.00037
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447 0.00037
NM_025136.4(OPA3):c.*6902G>A rs528812143 0.00037
NM_000019.3(ACAT1):c.*753C>T rs186239800 0.00036
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036 0.00036
NM_001258392.3(CLPB):c.874-12C>G rs201936481 0.00036
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His) rs74574054 0.00036
NM_001609.4(ACADSB):c.*1508C>T rs886046788 0.00036
NM_001609.4(ACADSB):c.*3409A>T rs568844573 0.00036
NM_025136.4(OPA3):c.143-7C>T rs375551151 0.00036
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr) rs114741005 0.00036
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val) rs149034301 0.00036
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp) rs145141432 0.00035
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_022132.5(MCCC2):c.*725C>T rs370508668 0.00035
NM_052845.4(MMAB):c.*2740G>A rs139886832 0.00035
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378 0.00035
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456 0.00034
NM_001609.4(ACADSB):c.*1337A>G rs190353878 0.00034
NM_001609.4(ACADSB):c.990+11A>T rs376944892 0.00034
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr) rs150594251 0.00034
NM_005050.4(ABCD4):c.752G>A (p.Arg251His) rs139315421 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877 0.00034
NM_022132.5(MCCC2):c.1374-10C>T rs766032118 0.00034
NM_025136.4(OPA3):c.143-14C>T rs368939051 0.00034
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) rs146896149 0.00034
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510 0.00033
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214 0.00033
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_022132.5(MCCC2):c.*1297G>A rs547084096 0.00033
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001258392.3(CLPB):c.404-16C>T rs371250603 0.00032
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312 0.00032
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842 0.00032
NM_001698.3(AUH):c.807G>A (p.Arg269=) rs145208407 0.00032
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229 0.00032
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 0.00032
NM_022132.5(MCCC2):c.*565C>A rs565365607 0.00032
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00032
NM_000019.3(ACAT1):c.*574G>C rs775813923 0.00031
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 0.00031
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) rs141517318 0.00031
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) rs375374971 0.00031
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794 0.00031
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508 0.00031
NM_002225.5(IVD):c.*1005T>C rs560096869 0.00031
NM_002225.5(IVD):c.*287C>T rs565064447 0.00031
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055 0.00031
NM_052845.4(MMAB):c.*3043T>G rs771530065 0.00031
NM_052845.4(MMAB):c.*503G>A rs766339289 0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser) rs371714495 0.00031
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303 0.00030
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=) rs189674085 0.00030
NM_002225.5(IVD):c.961-6G>A rs199783007 0.00030
NM_005050.4(ABCD4):c.1637-10G>A rs201148020 0.00030
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247 0.00030
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser) rs201273972 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_022132.5(MCCC2):c.*714G>A rs562662053 0.00030
NM_025136.4(OPA3):c.*1070C>T rs146989248 0.00030
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259 0.00029
NM_000255.4(MMUT):c.*466G>A rs538293537 0.00029
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) rs147718091 0.00029
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273 0.00029
NM_001258392.3(CLPB):c.646+6T>C rs374982363 0.00029
NM_001352514.2(HLCS):c.*2771C>T rs746169122 0.00029
NM_001352514.2(HLCS):c.*430T>C rs186680398 0.00029
NM_001609.4(ACADSB):c.*3332A>T rs763405920 0.00029
NM_001609.4(ACADSB):c.*3470T>C rs547577402 0.00029
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu) rs142696207 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) rs373690520 0.00029
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_022132.5(MCCC2):c.*368T>C rs769233664 0.00029
NM_172250.3(MMAA):c.*2139A>G rs772671304 0.00029
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898 0.00028
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035 0.00028
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181 0.00028
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) rs781955031 0.00028
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841 0.00028
NM_025136.4(OPA3):c.*4372G>A rs573344031 0.00028
NM_000532.5(PCCB):c.1091-16A>C rs534160449 0.00027
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) rs149932193 0.00027
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=) rs377583331 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_025136.4(OPA3):c.*5660A>G rs935989223 0.00027
NM_032861.4(SERAC1):c.1828+10C>G rs374374755 0.00027
NM_172250.3(MMAA):c.*1584A>G rs530538534 0.00027
NM_172250.3(MMAA):c.*177A>G rs572996882 0.00027
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_000255.4(MMUT):c.*1044T>A rs779436906 0.00026
NM_000282.4(PCCA):c.606A>G (p.Ala202=) rs140082586 0.00026
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096 0.00026
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573 0.00026
NM_001352514.2(HLCS):c.*1084C>T rs530869762 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg) rs148868421 0.00026
NM_001609.4(ACADSB):c.*1907C>T rs886046793 0.00026
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00026
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter) rs142095937 0.00026
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134 0.00026
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463 0.00026
NM_025136.4(OPA3):c.*1091C>G rs557691359 0.00026
NM_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00026
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_001243279.3(ACSF3):c.978-6G>A rs377217672 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001352514.2(HLCS):c.*2541C>T rs184935954 0.00025
NM_002225.5(IVD):c.234+16C>T rs750473075 0.00025
NM_002225.5(IVD):c.234+9G>A rs369931477 0.00025
NM_014384.3(ACAD8):c.*494A>G rs148808998 0.00025
NM_014384.3(ACAD8):c.380+17G>T rs201079276 0.00025
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659 0.00024
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=) rs143393390 0.00024
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp) rs144238478 0.00024
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys) rs146410859 0.00024
NM_000255.4(MMUT):c.*986G>A rs886061552 0.00023
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser) rs767062135 0.00023
NM_001370658.1(BTD):c.430A>C (p.Arg144=) rs556096072 0.00023
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673 0.00023
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693 0.00023
NM_000282.4(PCCA):c.965C>T (p.Ala322Val) rs143527709 0.00022
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_001017989.3(OPA3):c.486C>T (p.His162=) rs201078416 0.00022
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn) rs149822970 0.00022
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_001609.4(ACADSB):c.*3321C>T rs775939335 0.00022
NM_001698.3(AUH):c.464G>C (p.Gly155Ala) rs377491933 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_018368.4(LMBRD1):c.1510-17C>T rs149064101 0.00022
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224 0.00022
NM_000019.4(ACAT1):c.816G>T (p.Gln272His) rs139120939 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000282.4(PCCA):c.-20G>A rs374941593 0.00021
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro) rs143096615 0.00021
NM_000532.5(PCCB):c.303+8T>A rs199769617 0.00021
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_001195087.2(GGACT):c.*1930T>G rs770148620 0.00021
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_025136.4(OPA3):c.*3891C>T rs752997579 0.00021
NM_025136.4(OPA3):c.*5570C>T rs766783593 0.00021
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000255.4(MMUT):c.1808+15T>C rs369131814 0.00020
NM_000282.4(PCCA):c.415-10C>T rs376120578 0.00020
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00020
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu) rs141970893 0.00020
NM_002225.5(IVD):c.597C>T (p.Gly199=) rs754418427 0.00020
NM_005334.3(HCFC1):c.4942+8C>T rs1013019333 0.00020
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_025136.4(OPA3):c.*5739C>T rs375835737 0.00020
NM_052845.4(MMAB):c.*3142G>A rs747166756 0.00020
NM_172250.3(MMAA):c.*2471G>A rs886059106 0.00020
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile) rs142869776 0.00019
NM_000116.5(TAFAZZIN):c.584-7del rs782192927 0.00019
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116 0.00019
NM_000255.4(MMUT):c.781A>G (p.Ile261Val) rs375054307 0.00019
NM_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015 0.00019
NM_000532.5(PCCB):c.510G>A (p.Val170=) rs1212025973 0.00019
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_001195087.2(GGACT):c.*1848C>T rs886049929 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782 0.00019
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) rs781425127 0.00019
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) rs145141190 0.00019
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518 0.00019
NM_001352514.2(HLCS):c.*1852G>T rs551457805 0.00019
NM_001609.4(ACADSB):c.*3597G>A rs755235760 0.00019
NM_001698.3(AUH):c.262+14G>A rs200386272 0.00019
NM_001698.3(AUH):c.330+13A>T rs374741033 0.00019
NM_002225.5(IVD):c.*805G>A rs183425220 0.00019
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln) rs199986349 0.00019
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=) rs138753274 0.00019
NM_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg) rs201807738 0.00019
NM_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 0.00019
NM_052845.4(MMAB):c.*2914G>A rs759971406 0.00019
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164 0.00019
NM_000191.3(HMGCL):c.*338G>C rs988536831 0.00018
NM_000255.4(MMUT):c.1332+3A>C rs367641890 0.00018
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu) rs141829043 0.00018
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.1613+3A>C rs373631805 0.00018
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471 0.00018
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581 0.00018
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971 0.00018
NM_001352514.2(HLCS):c.*3156A>G rs886738924 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001609.4(ACADSB):c.*3736G>T rs80159677 0.00018
NM_002225.5(IVD):c.38C>T (p.Ala13Val) rs189587579 0.00018
NM_025136.4(OPA3):c.*3278C>T rs770317628 0.00018
NM_025136.4(OPA3):c.*5597C>T rs560019290 0.00018
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00017
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000282.4(PCCA):c.382A>G (p.Met128Val) rs144201462 0.00017
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala) rs149690919 0.00017
NM_001609.4(ACADSB):c.*84G>A rs574895675 0.00017
NM_001609.4(ACADSB):c.795C>T (p.Phe265=) rs150619709 0.00017
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135 0.00017
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala) rs201714172 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_052845.4(MMAB):c.*2636A>G rs748949434 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_000191.3(HMGCL):c.145-8C>T rs369286537 0.00016
NM_000255.4(MMUT):c.1084-12C>T rs373027036 0.00016
NM_000532.5(PCCB):c.1399-19T>C rs368309360 0.00016
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823 0.00016
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 0.00016
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) rs142092069 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) rs200703917 0.00016
NM_001352514.2(HLCS):c.*2069T>C rs540511044 0.00016
NM_001370658.1(BTD):c.410G>A (p.Arg137His) rs146015592 0.00016
NM_001609.4(ACADSB):c.*1445A>T rs182952282 0.00016
NM_001609.4(ACADSB):c.*1920G>T rs141894735 0.00016
NM_001609.4(ACADSB):c.1128+2dup rs762666946 0.00016
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val) rs149139488 0.00016
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=) rs201456625 0.00016
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly) rs183607306 0.00016
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419 0.00016
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys) rs368653287 0.00016
NM_014384.3(ACAD8):c.939+11C>T rs372904463 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser) rs142887940 0.00016
NM_025136.3(OPA3):c.-96A>G rs566870092 0.00016
NM_025136.4(OPA3):c.33G>T (p.Leu11=) rs148805518 0.00016
NM_052845.4(MMAB):c.*554G>A rs562420933 0.00016
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln) rs376891597 0.00016
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=) rs760794308 0.00015
NM_000191.3(HMGCL):c.876+18C>T rs200098567 0.00015
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536 0.00015
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002 0.00015
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814 0.00015
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=) rs752720474 0.00015
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=) rs147256659 0.00015
NM_001370658.1(BTD):c.-105C>T rs184480128 0.00015
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_022132.5(MCCC2):c.701G>A (p.Arg234His) rs202100813 0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) rs141676987 0.00015
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901 0.00014
NM_000255.4(MMUT):c.2124+16A>G rs376257828 0.00014
NM_000282.3(PCCA):c.-60C>T rs778039561 0.00014
NM_000282.4(PCCA):c.231+16G>A rs562491059 0.00014
NM_000282.4(PCCA):c.914+10C>G rs774298513 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) rs34972688 0.00014
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 0.00014
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) rs756279730 0.00014
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559 0.00014
NM_001352514.2(HLCS):c.*1273T>A rs565500474 0.00014
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys) rs138844739 0.00014
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=) rs200631719 0.00014
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu) rs376210604 0.00014
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_002225.5(IVD):c.*1313C>G rs550652153 0.00014
NM_002225.5(IVD):c.*1839C>G rs186670312 0.00014
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00014
NM_005050.4(ABCD4):c.719+6T>C rs755014125 0.00014
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332 0.00014
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=) rs372258214 0.00014
NM_005334.3(HCFC1):c.6069-5C>T rs782321258 0.00014
NM_014362.4(HIBCH):c.1011+11A>T rs550386327 0.00014
NM_014384.3(ACAD8):c.*705T>G rs534413850 0.00014
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile) rs374317179 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_025136.4(OPA3):c.*1018A>G rs534682712 0.00014
NM_025136.4(OPA3):c.*5045C>T rs573380409 0.00014
NM_025136.4(OPA3):c.*649C>T rs886054537 0.00014
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln) rs770932848 0.00014
NM_032861.4(SERAC1):c.1308+17C>A rs201126863 0.00014
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu) rs370591885 0.00014
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met) rs143065058 0.00014
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00014
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_145261.4(DNAJC19):c.3+16C>T rs367841424 0.00014
NM_172250.3(MMAA):c.*3222T>C rs886059112 0.00014
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772 0.00014
NM_000255.4(MMUT):c.*465C>T rs886061555 0.00013
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323 0.00013
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004 0.00013
NM_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957 0.00013
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632 0.00013
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser) rs538159086 0.00013
NM_001370658.1(BTD):c.400-4C>T rs372355662 0.00013
NM_001609.4(ACADSB):c.*1754A>G rs886046791 0.00013
NM_001609.4(ACADSB):c.*3619T>C rs886046802 0.00013
NM_002225.5(IVD):c.*566A>T rs549510775 0.00013
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser) rs201664321 0.00013
NM_005050.4(ABCD4):c.867C>T (p.Ile289=) rs138775118 0.00013
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.1605+16T>G rs375698764 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) rs140727621 0.00013
NM_022132.5(MCCC2):c.384-20A>G rs770917710 0.00013
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) rs147085187 0.00013
NM_052845.4(MMAB):c.*2053C>T rs545623412 0.00013
NM_172250.3(MMAA):c.*942A>G rs886059096 0.00013
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val) rs369440498 0.00012
NM_000019.4(ACAT1):c.1164-14T>C rs111849528 0.00012
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser) rs148032473 0.00012
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_000532.5(PCCB):c.23C>T (p.Ala8Val) rs764602019 0.00012
NM_000532.5(PCCB):c.250A>G (p.Met84Val) rs201950515 0.00012
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180 0.00012
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) rs139520739 0.00012
NM_001243279.3(ACSF3):c.387T>C (p.His129=) rs150050697 0.00012
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) rs756300619 0.00012
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) rs145470870 0.00012
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val) rs141607995 0.00012
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186 0.00012
NM_001352514.2(HLCS):c.*1827C>A rs768653798 0.00012
NM_001352514.2(HLCS):c.*2555T>C rs79868396 0.00012
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 0.00012
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887 0.00012
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala) rs144901367 0.00012
NM_001698.3(AUH):c.721C>T (p.Arg241Ter) rs200212229 0.00012
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00012
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) rs370113081 0.00012
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624 0.00012
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr) rs201049927 0.00012
NM_014384.3(ACAD8):c.178A>G (p.Met60Val) rs374985215 0.00012
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile) rs759877257 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys) rs144578800 0.00012
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295 0.00012
NM_052845.4(MMAB):c.*1482C>T rs576738108 0.00012
NM_052845.4(MMAB):c.584+6A>G rs767719463 0.00012
NM_172250.3(MMAA):c.*1425C>T rs529476650 0.00012
NM_172250.3(MMAA):c.941G>A (p.Arg314His) rs148142853 0.00012
NM_000019.3(ACAT1):c.*397C>T rs568860814 0.00011
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys) rs200955062 0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro) rs377359610 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000532.5(PCCB):c.544-20T>C rs370010917 0.00011
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082 0.00011
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) rs141518662 0.00011
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) rs113731967 0.00011
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) rs201953109 0.00011
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388 0.00011
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382 0.00011
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001370658.1(BTD):c.1362A>G (p.Glu454=) rs189789794 0.00011
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907 0.00011
NM_001370658.1(BTD):c.1438C>T (p.Leu480=) rs150206202 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_001370658.1(BTD):c.603C>T (p.Phe201=) rs142418812 0.00011
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541 0.00011
NM_001698.3(AUH):c.926A>C (p.Glu309Ala) rs749713024 0.00011
NM_002225.5(IVD):c.*2001G>A rs185013442 0.00011
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049 0.00011
NM_005050.4(ABCD4):c.555C>T (p.Leu185=) rs188108983 0.00011
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=) rs182541172 0.00011
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) rs1273500868 0.00011
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00011
NM_014362.4(HIBCH):c.438+19C>G rs919531257 0.00011
NM_014362.4(HIBCH):c.79-7T>C rs201950316 0.00011
NM_014362.4(HIBCH):c.885A>G (p.Gln295=) rs778683855 0.00011
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=) rs374692738 0.00011
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln) rs775062752 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_018368.4(LMBRD1):c.1189-15C>G rs774156278 0.00011
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020166.5(MCCC1):c.1732-9T>A rs370660849 0.00011
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020166.5(MCCC1):c.89+13G>C rs774187137 0.00011
NM_022132.5(MCCC2):c.*941A>G rs537387461 0.00011
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378 0.00011
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 0.00011
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) rs371336335 0.00011
NM_032861.4(SERAC1):c.128+8G>A rs766928057 0.00011
NM_032861.4(SERAC1):c.1404-11G>A rs371357530 0.00011
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=) rs144641679 0.00011
NM_032861.4(SERAC1):c.552C>T (p.Ser184=) rs140671987 0.00011
NM_032861.4(SERAC1):c.711A>G (p.Glu237=) rs144125721 0.00011
NM_052845.4(MMAB):c.*1689C>T rs886093880 0.00011
NM_052845.4(MMAB):c.*3074C>T rs186602321 0.00011
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142 0.00011
NM_145261.4(DNAJC19):c.129+15A>C rs201697391 0.00011
NM_172250.3(MMAA):c.440-17A>T rs373100355 0.00011
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266 0.00010
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000282.4(PCCA):c.1519G>A (p.Val507Met) rs146061036 0.00010
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856 0.00010
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val) rs376383373 0.00010
NM_000282.4(PCCA):c.468+11A>C rs187554010 0.00010
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.1299+13T>C rs185352554 0.00010
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740 0.00010
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00010
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320 0.00010
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) rs368696141 0.00010
NM_001243279.3(ACSF3):c.823-6T>C rs76096111 0.00010
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met) rs544489365 0.00010
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466 0.00010
NM_001258392.3(CLPB):c.776-10C>G rs141271919 0.00010
NM_001352514.2(HLCS):c.*1594A>G rs776064678 0.00010
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=) rs149877080 0.00010
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn) rs139697458 0.00010
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile) rs183589811 0.00010
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn) rs373951547 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys) rs137877018 0.00010
NM_001370658.1(BTD):c.645C>A (p.Pro215=) rs140769832 0.00010
NM_001609.4(ACADSB):c.*2085C>T rs766980366 0.00010
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182 0.00010
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu) rs143736049 0.00010
NM_001609.4(ACADSB):c.807+10G>A rs367568388 0.00010
NM_001698.3(AUH):c.*218_*219del rs1057515675 0.00010
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495 0.00010
NM_005050.4(ABCD4):c.756G>A (p.Arg252=) rs149632647 0.00010
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_014384.3(ACAD8):c.444G>T (p.Pro148=) rs572820646 0.00010
NM_014384.3(ACAD8):c.567+12C>T rs375812492 0.00010
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781 0.00010
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_018368.4(LMBRD1):c.406-6A>C rs373257303 0.00010
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191 0.00010
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) rs201745589 0.00010
NM_020166.5(MCCC1):c.762-5T>C rs369355125 0.00010
NM_022132.5(MCCC2):c.*260T>A rs886060739 0.00010
NM_022132.5(MCCC2):c.*856C>T rs886060744 0.00010
NM_025136.4(OPA3):c.*5258A>G rs886054512 0.00010
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 0.00010
NM_052845.4(MMAB):c.*2503G>A rs886048916 0.00010
NM_052845.4(MMAB):c.*509C>T rs886048923 0.00010
NM_000019.3(ACAT1):c.*344T>C rs776705661 0.00009
NM_000019.4(ACAT1):c.22C>T (p.Leu8=) rs775668624 0.00009
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000191.3(HMGCL):c.498-10C>A rs373505626 0.00009
NM_000255.4(MMUT):c.*1184T>C rs745494100 0.00009
NM_000255.4(MMUT):c.*1252T>C rs781039564 0.00009
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala) rs759407117 0.00009
NM_000282.4(PCCA):c.2169G>A (p.Leu723=) rs371113202 0.00009
NM_000282.4(PCCA):c.232-20A>G rs376850891 0.00009
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917 0.00009
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566 0.00009
NM_000532.5(PCCB):c.373-18T>C rs775972133 0.00009
NM_000532.5(PCCB):c.885-4A>C rs535943678 0.00009
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) rs545886514 0.00009
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr) rs144411003 0.00009
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081 0.00009
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2088C>T (p.Val696=) rs150794567 0.00009
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445 0.00009
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126 0.00009
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574 0.00009
NM_001370658.1(BTD):c.1047G>A (p.Pro349=) rs140890299 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_001609.4(ACADSB):c.*323G>A rs886046785 0.00009
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788 0.00009
NM_001698.3(AUH):c.*237G>A rs933932318 0.00009
NM_001698.3(AUH):c.20C>T (p.Ala7Val) rs863223911 0.00009
NM_001698.3(AUH):c.998C>T (p.Pro333Leu) rs541546111 0.00009
NM_002225.5(IVD):c.*123G>A rs536728525 0.00009
NM_002225.5(IVD):c.*2205C>T rs185128282 0.00009
NM_002225.5(IVD):c.1139-9T>C rs373295135 0.00009
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val) rs368445200 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968 0.00009
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=) rs370251100 0.00009
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=) rs782522290 0.00009
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile) rs367938014 0.00009
NM_014384.3(ACAD8):c.*82G>C rs964955100 0.00009
NM_014384.3(ACAD8):c.110-9T>C rs371550147 0.00009
NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln) rs749474432 0.00009
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala) rs186756646 0.00009
NM_014384.3(ACAD8):c.567+8C>T rs574233188 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874 0.00009
NM_018368.4(LMBRD1):c.405+8T>C rs375415974 0.00009
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_022132.5(MCCC2):c.*1272A>G rs772502944 0.00009
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile) rs144631139 0.00009
NM_025136.4(OPA3):c.*1863T>G rs769185702 0.00009
NM_025136.4(OPA3):c.*4773A>G rs1409082190 0.00009
NM_025136.4(OPA3):c.*5496C>T rs886054511 0.00009
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala) rs377766896 0.00009
NM_030813.6(CLPB):c.736+2T>C rs201350869 0.00009
NM_032861.4(SERAC1):c.487+19C>T rs372997779 0.00009
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser) rs546374310 0.00009
NM_052845.4(MMAB):c.*301C>T rs1053960970 0.00009
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_172250.3(MMAA):c.*2808G>A rs543019315 0.00009
NM_172250.3(MMAA):c.*4539T>G rs558703264 0.00009
NM_172250.3(MMAA):c.440-6C>T rs374784209 0.00009
NM_172250.3(MMAA):c.7A>G (p.Met3Val) rs527340737 0.00009
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys) rs374795215 0.00009
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) rs577313004 0.00008
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp) rs199952982 0.00008
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000191.3(HMGCL):c.*289G>T rs369514739 0.00008
NM_000255.4(MMUT):c.*200A>T rs886061556 0.00008
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln) rs187346936 0.00008
NM_000282.4(PCCA):c.1540+20T>C rs754203055 0.00008
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile) rs201570336 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000282.4(PCCA):c.638-10C>T rs763390049 0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_001017989.3(OPA3):c.406T>C (p.Leu136=) rs535476484 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001352514.2(HLCS):c.*1085G>A rs531457233 0.00008
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098 0.00008
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=) rs746277054 0.00008
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) rs373822815 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_001609.4(ACADSB):c.*2060G>A rs886046795 0.00008
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326 0.00008
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe) rs144894218 0.00008
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253 0.00008
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) rs781840891 0.00008
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala) rs782762959 0.00008
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) rs782684668 0.00008
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln) rs200185893 0.00008
NM_014384.3(ACAD8):c.*266T>A rs762508631 0.00008
NM_014384.3(ACAD8):c.841+9C>T rs777635296 0.00008
NM_014384.3(ACAD8):c.842-18G>A rs578153873 0.00008
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) rs754142876 0.00008
NM_015702.3(MMADHC):c.610-12C>A rs371855955 0.00008
NM_018368.4(LMBRD1):c.1188+17del rs538437940 0.00008
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) rs200639044 0.00008
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_025136.4(OPA3):c.*3644C>T rs914226398 0.00008
NM_025136.4(OPA3):c.*4521G>A rs886054521 0.00008
NM_025136.4(OPA3):c.*5873C>T rs886054509 0.00008
NM_032861.4(SERAC1):c.1403+11C>T rs369586400 0.00008
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly) rs370340688 0.00008
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.644+7G>A rs147637814 0.00008
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys) rs142447736 0.00008
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252 0.00008
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr) rs201183545 0.00007
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile) rs538620811 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000282.4(PCCA):c.1284+1G>A rs752761437 0.00007
NM_000532.5(PCCB):c.430-5C>G rs369339939 0.00007
NM_000532.5(PCCB):c.8C>T (p.Ala3Val) rs373685372 0.00007
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys) rs148578333 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) rs759448696 0.00007
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) rs148768970 0.00007
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616 0.00007
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195 0.00007
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu) rs538184539 0.00007
NM_001258392.3(CLPB):c.921C>T (p.Phe307=) rs561993207 0.00007
NM_001352514.2(HLCS):c.*2416C>T rs566088233 0.00007
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys) rs745652723 0.00007
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338 0.00007
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169 0.00007
NM_001370658.1(BTD):c.-65G>T rs199516128 0.00007
NM_001370658.1(BTD):c.1344C>T (p.Phe448=) rs781065270 0.00007
NM_001370658.1(BTD):c.1539G>A (p.Ala513=) rs745376296 0.00007
NM_001370658.1(BTD):c.566G>A (p.Arg189His) rs398123139 0.00007
NM_001609.4(ACADSB):c.*1865C>T rs1389294187 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078 0.00007
NM_005050.4(ABCD4):c.1752+5C>T rs370270229 0.00007
NM_005050.4(ABCD4):c.425+6C>T rs368213518 0.00007
NM_005050.4(ABCD4):c.447C>T (p.Asp149=) rs143479125 0.00007
NM_005050.4(ABCD4):c.504G>A (p.Pro168=) rs753233201 0.00007
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) rs782754046 0.00007
NM_005334.3(HCFC1):c.2029-9C>G rs374910917 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446 0.00007
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00007
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr) rs121908418 0.00007
NM_014384.3(ACAD8):c.984C>T (p.Ala328=) rs766640729 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_015702.3(MMADHC):c.513C>G (p.Gly171=) rs373384350 0.00007
NM_018368.4(LMBRD1):c.1338+2T>C rs147270670 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_022132.5(MCCC2):c.1488+10G>A rs190514867 0.00007
NM_022132.5(MCCC2):c.738+16C>T rs554502924 0.00007
NM_025136.4(OPA3):c.*6361G>A rs1020767023 0.00007
NM_025136.4(OPA3):c.*821A>T rs886054536 0.00007
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp) rs769048646 0.00007
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe) rs150895111 0.00007
NM_145261.4(DNAJC19):c.*488G>C rs576646391 0.00007
NM_145261.4(DNAJC19):c.280+2dup rs756616792 0.00007
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056 0.00007
NM_172250.3(MMAA):c.733+13T>C rs768662983 0.00007
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892 0.00007
NM_000019.3(ACAT1):c.*384A>C rs916588276 0.00006
NM_000019.4(ACAT1):c.-5C>T rs747790910 0.00006
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 0.00006
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) rs762991875 0.00006
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu) rs764142914 0.00006
NM_000019.4(ACAT1):c.891G>A (p.Thr297=) rs372169445 0.00006
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000191.3(HMGCL):c.*414G>A rs886046310 0.00006
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile) rs142942001 0.00006
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=) rs139799938 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000191.3(HMGCL):c.882G>A (p.Val294=) rs1370242689 0.00006
NM_000255.4(MMUT):c.*281G>A rs144168425 0.00006
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299 0.00006
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332 0.00006
NM_000255.4(MMUT):c.1956+17G>C rs199735681 0.00006
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670 0.00006
NM_000255.4(MMUT):c.912-13G>A rs542038574 0.00006
NM_000255.4(MMUT):c.912G>A (p.Arg304=) rs201311681 0.00006
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200 0.00006
NM_000282.4(PCCA):c.1350A>G (p.Ser450=) rs755614638 0.00006
NM_000282.4(PCCA):c.1515C>T (p.Ser505=) rs201162791 0.00006
NM_000282.4(PCCA):c.1713C>T (p.Thr571=) rs778536273 0.00006
NM_000282.4(PCCA):c.1900-15T>G rs769815745 0.00006
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306 0.00006
NM_000282.4(PCCA):c.483C>T (p.Val161=) rs370402818 0.00006
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346 0.00006
NM_000282.4(PCCA):c.716+19T>C rs201320992 0.00006
NM_000532.5(PCCB):c.1198+11G>C rs952515018 0.00006
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_000532.5(PCCB):c.554C>T (p.Thr185Met) rs369612150 0.00006
NM_000532.5(PCCB):c.641C>T (p.Thr214Met) rs375740942 0.00006
NM_000532.5(PCCB):c.66C>G (p.Arg22=) rs759836996 0.00006
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184 0.00006
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn) rs757845027 0.00006
NM_000532.5(PCCB):c.818A>T (p.Asp273Val) rs765749691 0.00006
NM_000532.5(PCCB):c.966+17T>C rs752703797 0.00006
NM_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) rs746564011 0.00006
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) rs560101290 0.00006
NM_001243279.3(ACSF3):c.720C>T (p.His240=) rs778493922 0.00006
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) rs774006607 0.00006
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385 0.00006
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=) rs377372785 0.00006
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe) rs559592563 0.00006
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630 0.00006
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600 0.00006
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys) rs140963713 0.00006
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492 0.00006
NM_001352514.2(HLCS):c.*168G>T rs118099059 0.00006
NM_001352514.2(HLCS):c.*3253C>T rs529403596 0.00006
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=) rs141905941 0.00006
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699 0.00006
NM_001352514.2(HLCS):c.2450+7G>C rs373944714 0.00006
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn) rs761147008 0.00006
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp) rs150431185 0.00006
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850 0.00006
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val) rs201852672 0.00006
NM_001370658.1(BTD):c.522C>T (p.Phe174=) rs750363004 0.00006
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601 0.00006
NM_001609.4(ACADSB):c.*2548G>T rs545467732 0.00006
NM_001609.4(ACADSB):c.*2581A>C rs779662230 0.00006
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met) rs150034487 0.00006
NM_001609.4(ACADSB):c.757T>C (p.Leu253=) rs776888756 0.00006
NM_001698.3(AUH):c.1004G>A (p.Arg335His) rs529693736 0.00006
NM_001698.3(AUH):c.656-8C>T rs199879150 0.00006
NM_001698.3(AUH):c.720G>A (p.Ala240=) rs780040124 0.00006
NM_001698.3(AUH):c.843+13A>G rs747375365 0.00006
NM_002225.5(IVD):c.234+13G>A rs762088213 0.00006
NM_002225.5(IVD):c.286+8T>C rs769702849 0.00006
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_005050.4(ABCD4):c.1518G>A (p.Val506=) rs372838114 0.00006
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=) rs776137988 0.00006
NM_005334.3(HCFC1):c.1084+8C>T rs367698803 0.00006
NM_005334.3(HCFC1):c.1803+13C>T rs368179780 0.00006
NM_005334.3(HCFC1):c.1803+7G>A rs782241441 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 0.00006
NM_014362.4(HIBCH):c.312G>A (p.Ser104=) rs201502204 0.00006
NM_014362.4(HIBCH):c.35+10A>C rs747167987 0.00006
NM_014384.3(ACAD8):c.*238G>C rs886048026 0.00006
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg) rs367996531 0.00006
NM_014384.3(ACAD8):c.207G>A (p.Gln69=) rs199868020 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser) rs200170162 0.00006
NM_014384.3(ACAD8):c.846C>G (p.Ser282=) rs200330956 0.00006
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr) rs751260935 0.00006
NM_015506.3(MMACHC):c.*10A>G rs367574509 0.00006
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719 0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala) rs569132013 0.00006
NM_015702.3(MMADHC):c.*241A>G rs528409808 0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) rs767542742 0.00006
NM_015702.3(MMADHC):c.510T>C (p.Asn170=) rs745423033 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) rs375328924 0.00006
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=) rs761693513 0.00006
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_018368.4(LMBRD1):c.637-13G>A rs776621535 0.00006
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His) rs373241693 0.00006
NM_020166.5(MCCC1):c.1083+10T>A rs374971501 0.00006
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) rs146689034 0.00006
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr) rs371795972 0.00006
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603 0.00006
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=) rs750602906 0.00006
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) rs762639338 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) rs139091481 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_022132.5(MCCC2):c.*1354C>T rs538509005 0.00006
NM_022132.5(MCCC2):c.*699T>C rs886060741 0.00006
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=) rs373146322 0.00006
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=) rs548725229 0.00006
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532 0.00006
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) rs367635502 0.00006
NM_025136.4(OPA3):c.*2545G>A rs886054528 0.00006
NM_025136.4(OPA3):c.*4233G>A rs576081836 0.00006
NM_025136.4(OPA3):c.*4585C>T rs886054520 0.00006
NM_025136.4(OPA3):c.*4618G>A rs1165606483 0.00006
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_025136.4(OPA3):c.*6278G>A rs886054507 0.00006
NM_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp) rs149056885 0.00006
NM_030813.6(CLPB):c.735C>T (p.Gly245=) rs201151763 0.00006
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) rs537530231 0.00006
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_052845.4(MMAB):c.*1683G>A rs572832766 0.00006
NM_052845.4(MMAB):c.*335G>A rs745373257 0.00006
NM_052845.4(MMAB):c.*691A>C rs886048922 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu) rs764683053 0.00006
NM_052845.4(MMAB):c.256G>A (p.Val86Met) rs143935056 0.00006
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn) rs925180956 0.00006
NM_145261.4(DNAJC19):c.210-7T>A rs779367415 0.00006
NM_145261.4(DNAJC19):c.280+5G>C rs762722601 0.00006
NM_172250.3(MMAA):c.*2645C>T rs568954220 0.00006
NM_172250.3(MMAA):c.*4228T>C rs533826043 0.00006
NM_172250.3(MMAA):c.-69G>T rs886059086 0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_172250.3(MMAA):c.850G>C (p.Asp284His) rs758654806 0.00006
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn) rs142126209 0.00006
NM_172250.3(MMAA):c.947G>A (p.Arg316His) rs377228966 0.00006
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=) rs200729208 0.00005
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr) rs764674778 0.00005
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln) rs200498630 0.00005
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193 0.00005
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707 0.00005
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val) rs147752765 0.00005
NM_000191.3(HMGCL):c.561+8C>G rs372648949 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000191.3(HMGCL):c.76A>G (p.Met26Val) rs756958205 0.00005
NM_000255.4(MMUT):c.-47G>A rs909215931 0.00005
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020 0.00005
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg) rs78150750 0.00005
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg) rs192543675 0.00005
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000532.5(PCCB):c.544-10G>A rs759150582 0.00005
NM_000532.5(PCCB):c.642G>A (p.Thr214=) rs148056730 0.00005
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096 0.00005
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys) rs137968278 0.00005
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=) rs777928520 0.00005
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu) rs780364085 0.00005
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) rs745633046 0.00005
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) rs772073893 0.00005
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) rs368192538 0.00005
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) rs550622194 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=) rs547364848 0.00005
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193 0.00005
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650 0.00005
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220 0.00005
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln) rs374538248 0.00005
NM_001258392.3(CLPB):c.582C>T (p.Asn194=) rs200063494 0.00005
NM_001258392.3(CLPB):c.651G>C (p.Leu217=) rs375214732 0.00005
NM_001352514.2(HLCS):c.*1756C>T rs748180401 0.00005
NM_001352514.2(HLCS):c.*1953A>G rs767162730 0.00005
NM_001352514.2(HLCS):c.*2945C>T rs71332549 0.00005
NM_001352514.2(HLCS):c.*490C>T rs376741921 0.00005
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile) rs200629955 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu) rs536067980 0.00005
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=) rs375809125 0.00005
NM_001370658.1(BTD):c.1188C>T (p.His396=) rs372039874 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.39C>T (p.Cys13=) rs201564216 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212 0.00005
NM_001609.4(ACADSB):c.1128+1G>A rs1564754571 0.00005
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met) rs772084235 0.00005
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr) rs747291865 0.00005
NM_001609.4(ACADSB):c.603C>G (p.Leu201=) rs368834489 0.00005
NM_001609.4(ACADSB):c.682-20G>A rs142778552 0.00005
NM_001698.3(AUH):c.158G>T (p.Gly53Val) rs747819278 0.00005
NM_001698.3(AUH):c.795C>T (p.Asp265=) rs761573002 0.00005
NM_001698.3(AUH):c.991A>T (p.Lys331Ter) rs387906757 0.00005
NM_002225.5(IVD):c.*1172C>T rs532691940 0.00005
NM_002225.5(IVD):c.*1884G>A rs1325854341 0.00005
NM_002225.5(IVD):c.111T>C (p.Asp37=) rs887220079 0.00005
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234 0.00005
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459 0.00005
NM_002225.5(IVD):c.816T>C (p.Gly272=) rs753508865 0.00005
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986 0.00005
NM_005050.4(ABCD4):c.1028+5G>A rs533842238 0.00005
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173 0.00005
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307 0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe) rs141808601 0.00005
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser) rs538521064 0.00005
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=) rs781810369 0.00005
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 0.00005
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) rs1459988694 0.00005
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804 0.00005
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) rs782045987 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) rs782670703 0.00005
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858 0.00005
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) rs782310209 0.00005
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) rs143408080 0.00005
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu) rs374584216 0.00005
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser) rs781133955 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met) rs767657325 0.00005
NM_018368.4(LMBRD1):c.474-20A>G rs952976480 0.00005
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811 0.00005
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) rs202192191 0.00005
NM_020166.5(MCCC1):c.2050-17G>C rs371009096 0.00005
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val) rs776594363 0.00005
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) rs762409158 0.00005
NM_022132.5(MCCC2):c.*1649C>T rs539578408 0.00005
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912 0.00005
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=) rs200915932 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_022132.5(MCCC2):c.72C>T (p.His24=) rs374686220 0.00005
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr) rs191457686 0.00005
NM_025136.4(OPA3):c.*1462C>T rs978328141 0.00005
NM_025136.4(OPA3):c.*4586G>A rs886054519 0.00005
NM_025136.4(OPA3):c.*5730C>T rs1308663626 0.00005
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_030813.6(CLPB):c.660C>T (p.Asp220=) rs759358526 0.00005
NM_052845.4(MMAB):c.*424G>A rs551461624 0.00005
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.44G>A (p.Arg15His) rs367711757 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_172250.3(MMAA):c.*3087A>G rs983988317 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659 0.00005
NM_172250.3(MMAA):c.1221A>G (p.Ala407=) rs767115507 0.00005
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800 0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807 0.00005
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911 0.00005
NM_000019.3(ACAT1):c.*464A>G rs886047602 0.00004
NM_000019.4(ACAT1):c.1006-17C>G rs1409314804 0.00004
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met) rs201500937 0.00004
NM_000019.4(ACAT1):c.384A>G (p.Ser128=) rs374439037 0.00004
NM_000019.4(ACAT1):c.436-5C>T rs369472868 0.00004
NM_000019.4(ACAT1):c.444_445del (p.Met148fs) rs727503795 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000019.4(ACAT1):c.546C>T (p.Asp182=) rs373393997 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000019.4(ACAT1):c.636C>T (p.Asp212=) rs759659537 0.00004
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr) rs772087249 0.00004
NM_000019.4(ACAT1):c.730+12G>A rs559179516 0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899 0.00004
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.145-13C>T rs762224192 0.00004
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg) rs764292245 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710 0.00004
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr) rs368688262 0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg) rs777758512 0.00004
NM_000255.4(MMUT):c.*445A>G rs1025441665 0.00004
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898 0.00004
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val) rs369902876 0.00004
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu) rs561197473 0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251 0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg) rs727504022 0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399 0.00004
NM_000255.4(MMUT):c.756C>T (p.His252=) rs376716145 0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436 0.00004
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181 0.00004
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu) rs532947142 0.00004
NM_000282.4(PCCA):c.184-6C>T rs542777393 0.00004
NM_000282.4(PCCA):c.2025C>G (p.Val675=) rs891946343 0.00004
NM_000282.4(PCCA):c.2040+11T>C rs200641726 0.00004
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr) rs376535469 0.00004
NM_000282.4(PCCA):c.327T>C (p.Ala109=) rs764005205 0.00004
NM_000282.4(PCCA):c.525C>T (p.Gly175=) rs151168308 0.00004
NM_000282.4(PCCA):c.645T>G (p.Pro215=) rs751840442 0.00004
NM_000282.4(PCCA):c.768T>C (p.Asp256=) rs1239656926 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000282.4(PCCA):c.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 0.00004
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr) rs759223615 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser) rs746240889 0.00004
NM_000532.5(PCCB):c.1371C>T (p.Thr457=) rs140630332 0.00004
NM_000532.5(PCCB):c.1498+10T>G rs777201996 0.00004
NM_000532.5(PCCB):c.1499-20C>T rs183824739 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696 0.00004
NM_000532.5(PCCB):c.163A>G (p.Ile55Val) rs561539546 0.00004
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr) rs371406048 0.00004
NM_000532.5(PCCB):c.183+17C>T rs776965589 0.00004
NM_000532.5(PCCB):c.246C>T (p.Ser82=) rs150449954 0.00004
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu) rs770601332 0.00004
NM_000532.5(PCCB):c.372+17A>G rs192106664 0.00004
NM_000532.5(PCCB):c.402A>G (p.Ser134=) rs200988668 0.00004
NM_000532.5(PCCB):c.51G>A (p.Leu17=) rs1262464904 0.00004
NM_000532.5(PCCB):c.613G>A (p.Val205Ile) rs141956198 0.00004
NM_000532.5(PCCB):c.663C>G (p.Ser221=) rs771455499 0.00004
NM_000532.5(PCCB):c.764-3T>C rs147939913 0.00004
NM_000532.5(PCCB):c.950T>A (p.Val317Glu) rs762758029 0.00004
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877 0.00004
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001195087.2(GGACT):c.*1741A>C rs1046827974 0.00004
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu) rs560149696 0.00004
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144 0.00004
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) rs144711526 0.00004
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747 0.00004
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) rs3743984 0.00004
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) rs200029061 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00004
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu) rs776314400 0.00004
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) rs142633119 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) rs757905943 0.00004
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) rs752338222 0.00004
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) rs377732201 0.00004
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) rs755163107 0.00004
NM_001243279.3(ACSF3):c.666+9C>T rs767663198 0.00004
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800 0.00004
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) rs765643653 0.00004
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) rs746877433 0.00004
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269 0.00004
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=) rs538912422 0.00004
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs) rs774722200 0.00004
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=) rs758906536 0.00004
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His) rs758613799 0.00004
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002 0.00004
NM_001258392.3(CLPB):c.543-20_543-18del rs759265435 0.00004
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg) rs756161923 0.00004
NM_001258392.3(CLPB):c.646+7371C>T rs369768699 0.00004
NM_001258392.3(CLPB):c.896G>A (p.Arg299His) rs547532550 0.00004
NM_001352514.2(HLCS):c.*1089G>A rs146991267 0.00004
NM_001352514.2(HLCS):c.*1094T>C rs780432651 0.00004
NM_001352514.2(HLCS):c.*1097G>A rs886057070 0.00004
NM_001352514.2(HLCS):c.1621-9A>G rs374646852 0.00004
NM_001352514.2(HLCS):c.1961-7G>C rs145472697 0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs) rs766163167 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001352514.2(HLCS):c.494-9A>G rs376397597 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn) rs780948465 0.00004
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe) rs763508196 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001370658.1(BTD):c.-38G>A rs138473616 0.00004
NM_001370658.1(BTD):c.-46T>C rs374044613 0.00004
NM_001370658.1(BTD):c.1014T>C (p.His338=) rs371365798 0.00004
NM_001370658.1(BTD):c.123C>T (p.Ala41=) rs747945967 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001370658.1(BTD):c.261T>G (p.Ile87Met) rs1024847163 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_001609.3(ACADSB):c.-39G>A rs886046776 0.00004
NM_001609.4(ACADSB):c.*1827G>A rs559677030 0.00004
NM_001609.4(ACADSB):c.*498G>A rs891156805 0.00004
NM_001609.4(ACADSB):c.-22A>G rs563472823 0.00004
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val) rs201877440 0.00004
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met) rs374629804 0.00004
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser) rs150022323 0.00004
NM_001609.4(ACADSB):c.510+13G>C rs773089971 0.00004
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr) rs761098384 0.00004
NM_001698.3(AUH):c.117G>C (p.Ser39=) rs759828827 0.00004
NM_001698.3(AUH):c.330+9A>G rs145402420 0.00004
NM_001698.3(AUH):c.374G>A (p.Arg125Gln) rs137939308 0.00004
NM_001698.3(AUH):c.656-2_656-1del rs757748207 0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001698.3(AUH):c.844-20T>C rs769924401 0.00004
NM_002225.5(IVD):c.*338G>A rs879231133 0.00004
NM_002225.5(IVD):c.*611T>G rs886051130 0.00004
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496 0.00004
NM_002225.5(IVD):c.1041C>T (p.Cys347=) rs371770434 0.00004
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002225.5(IVD):c.52C>T (p.Arg18Trp) rs375138989 0.00004
NM_002225.5(IVD):c.784+20G>A rs375795386 0.00004
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys) rs374984401 0.00004
NM_005050.4(ABCD4):c.1327+8C>T rs199678602 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_005050.4(ABCD4):c.1752+7G>A rs376322555 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu) rs747354548 0.00004
NM_005050.4(ABCD4):c.699G>A (p.Ala233=) rs139683556 0.00004
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met) rs181943870 0.00004
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=) rs782250826 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390 0.00004
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) rs782820533 0.00004
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440 0.00004
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=) rs923295564 0.00004
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) rs1422949741 0.00004
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg) rs1342469676 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511 0.00004
NM_014362.4(HIBCH):c.550T>C (p.Leu184=) rs777785491 0.00004
NM_014384.3(ACAD8):c.*608G>A rs143912522 0.00004
NM_014384.3(ACAD8):c.*696A>G rs886048029 0.00004
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser) rs768954546 0.00004
NM_014384.3(ACAD8):c.110-13A>G rs369626260 0.00004
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr) rs200234092 0.00004
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg) rs371449613 0.00004
NM_014384.3(ACAD8):c.615C>T (p.Cys205=) rs200275294 0.00004
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr) rs577976129 0.00004
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr) rs370229341 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847 0.00004
NM_015506.3(MMACHC):c.42C>T (p.Asp14=) rs141562335 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro) rs779575471 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His) rs150831620 0.00004
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln) rs777374813 0.00004
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=) rs779802824 0.00004
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=) rs751525924 0.00004
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu) rs373481039 0.00004
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=) rs139154326 0.00004
NM_018368.4(LMBRD1):c.562+19A>T rs200488577 0.00004
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn) rs370829456 0.00004
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val) rs772119224 0.00004
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=) rs529198629 0.00004
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=) rs766287809 0.00004
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=) rs140579569 0.00004
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854 0.00004
NM_020166.5(MCCC1):c.136+7A>G rs559629034 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020166.5(MCCC1):c.165A>G (p.Ala55=) rs373199843 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) rs143892743 0.00004
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053 0.00004
NM_020166.5(MCCC1):c.66C>T (p.Leu22=) rs750778690 0.00004
NM_022132.5(MCCC2):c.*378T>A rs535221710 0.00004
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg) rs753784414 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His) rs750965429 0.00004
NM_022132.5(MCCC2):c.1488+3C>T rs374049769 0.00004
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=) rs765801018 0.00004
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) rs1257849672 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val) rs770437473 0.00004
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile) rs553444289 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164 0.00004
NM_022132.5(MCCC2):c.999+16A>G rs1241526106 0.00004
NM_025136.4(OPA3):c.*3845C>T rs886054525 0.00004
NM_025136.4(OPA3):c.*6125G>A rs780617440 0.00004
NM_025136.4(OPA3):c.*6570G>C rs773109015 0.00004
NM_025136.4(OPA3):c.*761C>T rs1020788721 0.00004
NM_025136.4(OPA3):c.*922G>T rs886054535 0.00004
NM_025136.4(OPA3):c.303C>T (p.Tyr101=) rs752010426 0.00004
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter) rs374473067 0.00004
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg) rs746357833 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072 0.00004
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His) rs756639108 0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_032861.4(SERAC1):c.355+10C>T rs760497677 0.00004
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) rs863224200 0.00004
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu) rs536508664 0.00004
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys) rs543967244 0.00004
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202 0.00004
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) rs375757326 0.00004
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg) rs754908475 0.00004
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met) rs745441822 0.00004
NM_032861.4(SERAC1):c.92-16T>C rs201656768 0.00004
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) rs746668292 0.00004
NM_052845.4(MMAB):c.*2679G>C rs546327751 0.00004
NM_052845.4(MMAB):c.*588C>T rs1214904926 0.00004
NM_052845.4(MMAB):c.*815T>C rs776724872 0.00004
NM_052845.4(MMAB):c.168C>G (p.Pro56=) rs752857938 0.00004
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile) rs762404377 0.00004
NM_052845.4(MMAB):c.348+17C>T rs202141416 0.00004
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro) rs533819939 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051 0.00004
NM_052845.4(MMAB):c.52C>A (p.Leu18Met) rs374802787 0.00004
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00004
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) rs141007488 0.00004
NM_145261.4(DNAJC19):c.280+1G>A rs774006022 0.00004
NM_172250.3(MMAA):c.*1227A>T rs375194713 0.00004
NM_172250.3(MMAA):c.*1284G>A rs564976817 0.00004
NM_172250.3(MMAA):c.*2903C>T rs886059110 0.00004
NM_172250.3(MMAA):c.*3703T>C rs760429837 0.00004
NM_172250.3(MMAA):c.*4324G>A rs910534961 0.00004
NM_172250.3(MMAA):c.*890G>A rs771012374 0.00004
NM_172250.3(MMAA):c.-4G>A rs374109118 0.00004
NM_172250.3(MMAA):c.378A>G (p.Val126=) rs750237065 0.00004
NM_172250.3(MMAA):c.440-4G>A rs780768376 0.00004
NM_172250.3(MMAA):c.562+11C>T rs746737805 0.00004
NM_172250.3(MMAA):c.610A>G (p.Met204Val) rs370375675 0.00004
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln) rs375682603 0.00004
NM_181697.3(PRDX1):c.515-1G>T rs751828470 0.00004
NM_000019.4(ACAT1):c.1006-2A>C rs145229472 0.00003
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg) rs149171104 0.00003
NM_000019.4(ACAT1):c.1163+2T>C rs1280110907 0.00003
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000019.4(ACAT1):c.325T>C (p.Leu109=) rs772625970 0.00003
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr) rs754478568 0.00003
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala) rs752592672 0.00003
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr) rs370652435 0.00003
NM_000019.4(ACAT1):c.951C>T (p.Asp317=) rs747714452 0.00003
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val) rs1282394804 0.00003
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) rs143525004 0.00003
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=) rs150583937 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00003
NM_000191.3(HMGCL):c.349-3C>A rs777476731 0.00003
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999 0.00003
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423 0.00003
NM_000191.3(HMGCL):c.60+18C>T rs1012054316 0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile) rs746968587 0.00003
NM_000191.3(HMGCL):c.6A>G (p.Ala2=) rs375969301 0.00003
NM_000191.3(HMGCL):c.774T>C (p.Ser258=) rs568796561 0.00003
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp) rs759745527 0.00003
NM_000255.4(MMUT):c.*1214C>A rs886061551 0.00003
NM_000255.4(MMUT):c.*691T>C rs886061554 0.00003
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser) rs1196513317 0.00003
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503 0.00003
NM_000255.4(MMUT):c.123A>G (p.Pro41=) rs753769272 0.00003
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000255.4(MMUT):c.1677-1G>A rs754369323 0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254 0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066 0.00003
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) rs879253826 0.00003
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979 0.00003
NM_000255.4(MMUT):c.598A>G (p.Ile200Val) rs772104231 0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256 0.00003
NM_000255.4(MMUT):c.682C>T (p.Arg228Ter) rs200596762 0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278 0.00003
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg) rs905391740 0.00003
NM_000282.4(PCCA):c.1342A>G (p.Met448Val) rs767060690 0.00003
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln) rs183239835 0.00003
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582 0.00003
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser) rs887791543 0.00003
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583 0.00003
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys) rs145428347 0.00003
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys) rs200710812 0.00003
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del) rs1316778844 0.00003
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00003
NM_000282.4(PCCA):c.33G>T (p.Leu11=) rs922002208 0.00003
NM_000282.4(PCCA):c.414+19A>G rs531469612 0.00003
NM_000282.4(PCCA):c.415-9A>G rs1057520932 0.00003
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu) rs773397570 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000282.4(PCCA):c.803G>A (p.Arg268His) rs368047060 0.00003
NM_000282.4(PCCA):c.915-18A>T rs780272314 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro) rs770341883 0.00003
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser) rs752758930 0.00003
NM_000532.5(PCCB):c.1398+1G>T rs794727092 0.00003
NM_000532.5(PCCB):c.1399-5C>T rs575227657 0.00003
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala) rs1027171385 0.00003
NM_000532.5(PCCB):c.1569C>G (p.Ala523=) rs1418405958 0.00003
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly) rs1422527852 0.00003
NM_000532.5(PCCB):c.372+15C>T rs370726053 0.00003
NM_000532.5(PCCB):c.450G>A (p.Thr150=) rs749989578 0.00003
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp) rs373189621 0.00003
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997 0.00003
NM_000532.5(PCCB):c.654+12G>T rs770141659 0.00003
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877 0.00003
NM_000532.5(PCCB):c.862G>C (p.Val288Leu) rs201984177 0.00003
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys) rs771935604 0.00003
NM_000532.5(PCCB):c.890G>A (p.Arg297His) rs147379583 0.00003
NM_000532.5(PCCB):c.906T>G (p.Leu302=) rs139600424 0.00003
NM_000532.5(PCCB):c.967-14A>G rs1011978513 0.00003
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704 0.00003
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826 0.00003
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) rs374451559 0.00003
NM_001243279.3(ACSF3):c.1501+11G>A rs770771724 0.00003
NM_001243279.3(ACSF3):c.1502-5C>T rs577763495 0.00003
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216 0.00003
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=) rs139813770 0.00003
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=) rs147044602 0.00003
NM_001243279.3(ACSF3):c.18G>A (p.Val6=) rs375071176 0.00003
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) rs751551226 0.00003
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=) rs901932797 0.00003
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) rs771481057 0.00003
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=) rs757199694 0.00003
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=) rs748625786 0.00003
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=) rs751461445 0.00003
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=) rs143501853 0.00003
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr) rs754161182 0.00003
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) rs200352879 0.00003
NM_001243279.3(ACSF3):c.978-4G>A rs370451473 0.00003
NM_001258392.3(CLPB):c.105G>T (p.Arg35=) rs1336037926 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298 0.00003
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser) rs778761751 0.00003
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138 0.00003
NM_001258392.3(CLPB):c.1786-3C>T rs372126133 0.00003
NM_001258392.3(CLPB):c.246C>T (p.Cys82=) rs1004490311 0.00003
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330 0.00003
NM_001258392.3(CLPB):c.543-12G>C rs750871760 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln) rs762784246 0.00003
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00003
NM_001258392.3(CLPB):c.990G>A (p.Ala330=) rs765172842 0.00003
NM_001352514.2(HLCS):c.*1581T>C rs886057069 0.00003
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067 0.00003
NM_001352514.2(HLCS):c.*334A>G rs886057073 0.00003
NM_001352514.2(HLCS):c.*779A>T rs886057072 0.00003
NM_001352514.2(HLCS):c.*985C>A rs886057071 0.00003
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843 0.00003
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp) rs780469041 0.00003
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro) rs747122714 0.00003
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862 0.00003
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser) rs556454789 0.00003
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=) rs147495853 0.00003
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=) rs775832153 0.00003
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=) rs749728724 0.00003
NM_001352514.2(HLCS):c.1960+5G>A rs753887925 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=) rs375456567 0.00003
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=) rs370277326 0.00003
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val) rs199517800 0.00003
NM_001352514.2(HLCS):c.2451-8C>G rs373177254 0.00003
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=) rs761596791 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu) rs534858065 0.00003
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) rs148426470 0.00003
NM_001352514.2(HLCS):c.885C>T (p.Pro295=) rs139989284 0.00003
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs) rs1004027979 0.00003
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400 0.00003
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001370658.1(BTD):c.400-10T>G rs750494564 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001370658.1(BTD):c.72C>T (p.Thr24=) rs765550405 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys) rs753466926 0.00003
NM_001609.4(ACADSB):c.*3431C>G rs886046800 0.00003
NM_001609.4(ACADSB):c.*59G>A rs886046784 0.00003
NM_001609.4(ACADSB):c.*6A>G rs530087761 0.00003
NM_001609.4(ACADSB):c.*973A>G rs886046786 0.00003
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=) rs755539165 0.00003
NM_001609.4(ACADSB):c.1128+3A>T rs760423996 0.00003
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile) rs760585344 0.00003
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793 0.00003
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly) rs1375520384 0.00003
NM_001609.4(ACADSB):c.675T>C (p.Pro225=) rs770933347 0.00003
NM_001698.3(AUH):c.506-9C>T rs537751591 0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001698.3(AUH):c.657G>A (p.Gly219=) rs141110052 0.00003
NM_001698.3(AUH):c.746A>G (p.Lys249Arg) rs752072326 0.00003
NM_001698.3(AUH):c.80del (p.Ser27fs) rs730880310 0.00003
NM_001698.3(AUH):c.943-2A>G rs730880312 0.00003
NM_002225.3(IVD):c.-237G>C rs749128466 0.00003
NM_002225.5(IVD):c.*699G>A rs1039225701 0.00003
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528 0.00003
NM_002225.5(IVD):c.1066-10C>T rs774472099 0.00003
NM_002225.5(IVD):c.1066-4G>A rs374193700 0.00003
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.334A>T (p.Met112Leu) rs772021923 0.00003
NM_002225.5(IVD):c.576C>T (p.Asn192=) rs756184085 0.00003
NM_002225.5(IVD):c.609C>T (p.Asp203=) rs563452741 0.00003
NM_002225.5(IVD):c.785-9T>C rs374999241 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.873T>C (p.Pro291=) rs537402391 0.00003
NM_002225.5(IVD):c.895C>G (p.Leu299Val) rs149247895 0.00003
NM_002225.5(IVD):c.960+8G>A rs531429598 0.00003
NM_005050.4(ABCD4):c.1028+9G>A rs982830151 0.00003
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln) rs747987460 0.00003
NM_005050.4(ABCD4):c.1422G>T (p.Val474=) rs763882047 0.00003
NM_005050.4(ABCD4):c.24C>G (p.Pro8=) rs371692280 0.00003
NM_005050.4(ABCD4):c.425+7G>A rs375608814 0.00003
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045 0.00003
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=) rs782036588 0.00003
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=) rs201614319 0.00003
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223 0.00003
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695 0.00003
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00003
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635 0.00003
NM_005334.3(HCFC1):c.504-9C>T rs781961920 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5379+20G>A rs371712410 0.00003
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=) rs1557112253 0.00003
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=) rs369626014 0.00003
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 0.00003
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter) rs746960051 0.00003
NM_015506.3(MMACHC):c.156A>G (p.Val52=) rs763931975 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_015506.3(MMACHC):c.831T>C (p.Pro277=) rs1322086708 0.00003
NM_015702.3(MMADHC):c.*267T>C rs546054980 0.00003
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val) rs561540830 0.00003
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val) rs771282181 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly) rs759703455 0.00003
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=) rs368135707 0.00003
NM_020166.5(MCCC1):c.1212C>T (p.His404=) rs769780560 0.00003
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln) rs761249521 0.00003
NM_020166.5(MCCC1):c.1314C>T (p.Val438=) rs774243822 0.00003
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) rs757687424 0.00003
NM_020166.5(MCCC1):c.1377+17C>T rs375624644 0.00003
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=) rs547421709 0.00003
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) rs768011454 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=) rs370727510 0.00003
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly) rs992786696 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020166.5(MCCC1):c.300C>T (p.Pro100=) rs747409426 0.00003
NM_020166.5(MCCC1):c.492-5T>C rs775353666 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.759G>A (p.Pro253=) rs761851977 0.00003
NM_020166.5(MCCC1):c.78C>T (p.Leu26=) rs760268547 0.00003
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 0.00003
NM_020166.5(MCCC1):c.90-20C>T rs369103962 0.00003
NM_022132.5(MCCC2):c.*1539G>T rs1031741545 0.00003
NM_022132.5(MCCC2):c.*719del rs886060742 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) rs201238842 0.00003
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) rs1049308310 0.00003
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357 0.00003
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) rs1266022580 0.00003
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.219A>C (p.Ala73=) rs1048291170 0.00003
NM_022132.5(MCCC2):c.25C>T (p.Leu9=) rs1285116638 0.00003
NM_022132.5(MCCC2):c.282-8C>T rs574221691 0.00003
NM_022132.5(MCCC2):c.637A>G (p.Met213Val) rs769875413 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys) rs549784997 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_022132.5(MCCC2):c.999+8A>G rs575141754 0.00003
NM_025136.4(OPA3):c.*1214G>A rs368652706 0.00003
NM_025136.4(OPA3):c.*1693C>T rs904110306 0.00003
NM_025136.4(OPA3):c.*2089T>C rs886054529 0.00003
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_025136.4(OPA3):c.*3754C>T rs981647131 0.00003
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726 0.00003
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr) rs755841329 0.00003
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met) rs779852958 0.00003
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=) rs774371194 0.00003
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_032861.4(SERAC1):c.1828+3A>G rs773193644 0.00003
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val) rs368403843 0.00003
NM_052845.4(MMAB):c.*1428C>T rs757325398 0.00003
NM_052845.4(MMAB):c.*2739C>T rs759550993 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146 0.00003
NM_052845.4(MMAB):c.370G>A (p.Val124Ile) rs573706523 0.00003
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425 0.00003
NM_052845.4(MMAB):c.507C>T (p.Ala169=) rs776916498 0.00003
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu) rs368584846 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576 0.00003
NM_052845.4(MMAB):c.644+9G>A rs748589454 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515 0.00003
NM_172250.3(MMAA):c.*1273C>T rs1001420347 0.00003
NM_172250.3(MMAA):c.*1779T>C rs886059097 0.00003
NM_172250.3(MMAA):c.*1940T>C rs1054381866 0.00003
NM_172250.3(MMAA):c.*3801A>G rs886059116 0.00003
NM_172250.3(MMAA):c.*4457A>G rs896375111 0.00003
NM_172250.3(MMAA):c.-71G>C rs992491091 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_172250.3(MMAA):c.563-12T>C rs199938583 0.00003
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_172250.3(MMAA):c.787C>T (p.Leu263=) rs759947234 0.00003
NM_172250.3(MMAA):c.970-5G>A rs370814663 0.00003
NM_000019.3(ACAT1):c.*365C>T rs145398051 0.00002
NM_000019.3(ACAT1):c.*393A>G rs886047601 0.00002
NM_000019.4(ACAT1):c.105A>G (p.Ser35=) rs1442033328 0.00002
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=) rs1407616925 0.00002
NM_000019.4(ACAT1):c.225C>T (p.Ala75=) rs747201837 0.00002
NM_000019.4(ACAT1):c.288A>G (p.Gln96=) rs969770311 0.00002
NM_000019.4(ACAT1):c.342T>A (p.Pro114=) rs941750006 0.00002
NM_000019.4(ACAT1):c.436-7T>C rs775534544 0.00002
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg) rs120074141 0.00002
NM_000019.4(ACAT1):c.579+11T>C rs1191067994 0.00002
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) rs532190594 0.00002
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala) rs746059964 0.00002
NM_000019.4(ACAT1):c.941-9T>G rs980651269 0.00002
NM_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00002
NM_000019.4(ACAT1):c.990A>G (p.Val330=) rs764361167 0.00002
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787 0.00002
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950 0.00002
NM_000191.2(HMGCL):c.-41G>C rs886046315 0.00002
NM_000191.3(HMGCL):c.*366G>A rs1470010250 0.00002
NM_000191.3(HMGCL):c.165G>A (p.Val55=) rs1173716795 0.00002
NM_000191.3(HMGCL):c.168A>G (p.Lys56=) rs1291707271 0.00002
NM_000191.3(HMGCL):c.184A>G (p.Met62Val) rs373738626 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000191.3(HMGCL):c.324A>G (p.Pro108=) rs932601140 0.00002
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly) rs905961108 0.00002
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile) rs370010993 0.00002
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu) rs377359510 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000191.3(HMGCL):c.549T>A (p.Ala183=) rs61743700 0.00002
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061 0.00002
NM_000191.3(HMGCL):c.583A>G (p.Met195Val) rs764360500 0.00002
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861 0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser) rs764926275 0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile) rs761468576 0.00002
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174 0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000191.3(HMGCL):c.843G>A (p.Leu281=) rs773635833 0.00002
NM_000191.3(HMGCL):c.877-16A>G rs763250288 0.00002
NM_000191.3(HMGCL):c.877-7C>T rs750545040 0.00002
NM_000255.4(MMUT):c.1084-10A>G rs777031588 0.00002
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889 0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156 0.00002
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg) rs559152765 0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184 0.00002
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357 0.00002
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) rs1252414363 0.00002
NM_000255.4(MMUT):c.431G>A (p.Arg144His) rs776621768 0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248 0.00002
NM_000255.4(MMUT):c.912-14C>T rs200394018 0.00002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043 0.00002
NM_000282.4(PCCA):c.1275T>G (p.His425Gln) rs548833871 0.00002
NM_000282.4(PCCA):c.1285-4C>T rs372262089 0.00002
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp) rs776355907 0.00002
NM_000282.4(PCCA):c.146G>A (p.Arg49His) rs570674073 0.00002
NM_000282.4(PCCA):c.1540+11A>G rs374671328 0.00002
NM_000282.4(PCCA):c.1693T>C (p.Leu565=) rs767365284 0.00002
NM_000282.4(PCCA):c.1747-8dup rs753595587 0.00002
NM_000282.4(PCCA):c.183+18A>G rs746021444 0.00002
NM_000282.4(PCCA):c.1988G>A (p.Arg663His) rs780042764 0.00002
NM_000282.4(PCCA):c.2112T>C (p.Thr704=) rs765451633 0.00002
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile) rs548026367 0.00002
NM_000282.4(PCCA):c.232-1G>A rs794727620 0.00002
NM_000282.4(PCCA):c.318G>A (p.Ala106=) rs752769607 0.00002
NM_000282.4(PCCA):c.469-6C>T rs1411689584 0.00002
NM_000282.4(PCCA):c.50G>A (p.Arg17His) rs768914819 0.00002
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn) rs1047690554 0.00002
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala) rs766245108 0.00002
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser) rs369743452 0.00002
NM_000282.4(PCCA):c.638-5G>A rs764316702 0.00002
NM_000282.4(PCCA):c.689G>A (p.Arg230His) rs747943045 0.00002
NM_000282.4(PCCA):c.717-4A>G rs1046922650 0.00002
NM_000282.4(PCCA):c.775_779del (p.Leu259fs) rs794726976 0.00002
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr) rs773749632 0.00002
NM_000282.4(PCCA):c.946A>T (p.Met316Leu) rs200311920 0.00002
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu) rs750840362 0.00002
NM_000532.5(PCCB):c.-35G>A rs886058016 0.00002
NM_000532.5(PCCB):c.1090+18T>C rs775309894 0.00002
NM_000532.5(PCCB):c.1091-4C>G rs759283485 0.00002
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile) rs761529521 0.00002
NM_000532.5(PCCB):c.12A>G (p.Ala4=) rs1476876445 0.00002
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961 0.00002
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) rs375014273 0.00002
NM_000532.5(PCCB):c.1338C>T (p.His446=) rs958149789 0.00002
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr) rs542389615 0.00002
NM_000532.5(PCCB):c.1499-14C>T rs369168852 0.00002
NM_000532.5(PCCB):c.24G>T (p.Ala8=) rs1057523611 0.00002
NM_000532.5(PCCB):c.30C>T (p.Val10=) rs754303318 0.00002
NM_000532.5(PCCB):c.318C>T (p.Ser106=) rs767388070 0.00002
NM_000532.5(PCCB):c.449C>T (p.Thr150Met) rs372770908 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.480C>T (p.Asp160=) rs1454839953 0.00002
NM_000532.5(PCCB):c.543G>C (p.Leu181=) rs777868289 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000532.5(PCCB):c.939C>T (p.Ala313=) rs369008776 0.00002
NM_000532.5(PCCB):c.945C>T (p.Asn315=) rs766185451 0.00002
NM_000532.5(PCCB):c.996C>T (p.Ile332=) rs773854246 0.00002
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=) rs776003939 0.00002
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) rs150322170 0.00002
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter) rs1450563045 0.00002
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00002
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) rs201954387 0.00002
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter) rs138156311 0.00002
NM_001243279.3(ACSF3):c.294C>G (p.Val98=) rs1439239345 0.00002
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) rs145969050 0.00002
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=) rs749371364 0.00002
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) rs142575695 0.00002
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065 0.00002
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=) rs756599875 0.00002
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter) rs771558691 0.00002
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) rs772996642 0.00002
NM_001243279.3(ACSF3):c.667-7C>T rs770578916 0.00002
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) rs145583876 0.00002
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=) rs753810945 0.00002
NM_001243279.3(ACSF3):c.978-1G>A rs756599931 0.00002
NM_001243279.3(ACSF3):c.978-5C>T rs767914459 0.00002
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn) rs893057489 0.00002
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120 0.00002
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599 0.00002
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His) rs760399999 0.00002
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105 0.00002
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His) rs765245566 0.00002
NM_001258392.3(CLPB):c.1786-6C>T rs191389918 0.00002
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345 0.00002
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu) rs374729211 0.00002
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala) rs777039470 0.00002
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970 0.00002
NM_001258392.3(CLPB):c.692G>A (p.Arg231His) rs772243585 0.00002
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr) rs779228307 0.00002
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu) rs139268876 0.00002
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala) rs760759093 0.00002
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943 0.00002
NM_001258392.3(CLPB):c.914G>A (p.Arg305His) rs529206633 0.00002
NM_001352514.2(HLCS):c.*1071G>A rs987334114 0.00002
NM_001352514.2(HLCS):c.*14C>T rs778616712 0.00002
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=) rs1472760580 0.00002
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=) rs543680851 0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp) rs769499327 0.00002
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=) rs144016759 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys) rs547391411 0.00002
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808 0.00002
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322 0.00002
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=) rs748819971 0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352514.2(HLCS):c.2237-12G>C rs1487390204 0.00002
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551 0.00002
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=) rs138952612 0.00002
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr) rs376898721 0.00002
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser) rs773752745 0.00002
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys) rs145337682 0.00002
NM_001352514.2(HLCS):c.477A>C (p.Val159=) rs779019472 0.00002
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894 0.00002
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys) rs778638155 0.00002
NM_001370658.1(BTD):c.-17+11G>A rs563797222 0.00002
NM_001370658.1(BTD):c.-87G>T rs755119589 0.00002
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn) rs769903360 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1311G>A (p.Val437=) rs753880468 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001370658.1(BTD):c.183G>A (p.Glu61=) rs753816877 0.00002
NM_001370658.1(BTD):c.288T>C (p.His96=) rs1261536776 0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367 0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr) rs397514369 0.00002
NM_001370658.1(BTD):c.534C>T (p.Val178=) rs757159632 0.00002
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu) rs1003975438 0.00002
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys) rs768097543 0.00002
NM_001370658.1(BTD):c.723C>T (p.Tyr241=) rs372687866 0.00002
NM_001370658.1(BTD):c.741G>A (p.Val247=) rs552436982 0.00002
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser) rs144575084 0.00002
NM_001370658.1(BTD):c.852A>G (p.Pro284=) rs778024234 0.00002
NM_001370658.1(BTD):c.972C>T (p.Leu324=) rs117806438 0.00002
NM_001609.4(ACADSB):c.*1981G>A rs1267140155 0.00002
NM_001609.4(ACADSB):c.*263G>A rs1009551388 0.00002
NM_001609.4(ACADSB):c.*3941C>A rs886046804 0.00002
NM_001609.4(ACADSB):c.*57G>A rs886046783 0.00002
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val) rs745900584 0.00002
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile) rs752034695 0.00002
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu) rs745481903 0.00002
NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe) rs137852649 0.00002
NM_001609.4(ACADSB):c.915G>A (p.Ala305=) rs371907721 0.00002
NM_001698.3(AUH):c.198C>T (p.Gly66=) rs1268067238 0.00002
NM_001698.3(AUH):c.263-11C>T rs759369259 0.00002
NM_001698.3(AUH):c.505+1G>C rs773652620 0.00002
NM_001698.3(AUH):c.655+15C>T rs781269099 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001698.3(AUH):c.676C>T (p.Arg226Cys) rs148157596 0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val) rs769894315 0.00002
NM_001698.3(AUH):c.722G>A (p.Arg241Gln) rs1269002301 0.00002
NM_001698.3(AUH):c.850G>A (p.Val284Ile) rs748245565 0.00002
NM_001698.3(AUH):c.943-6T>C rs778134028 0.00002
NM_002225.5(IVD):c.*112G>T rs558721558 0.00002
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser) rs544110604 0.00002
NM_002225.5(IVD):c.1138+13C>T rs770658726 0.00002
NM_002225.5(IVD):c.1138+9T>G rs749171166 0.00002
NM_002225.5(IVD):c.1215G>A (p.Gly405=) rs752374036 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002225.5(IVD):c.219G>A (p.Glu73=) rs748950739 0.00002
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252 0.00002
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002225.5(IVD):c.483C>T (p.Ala161=) rs751760095 0.00002
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094 0.00002
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002225.5(IVD):c.897G>A (p.Leu299=) rs751049911 0.00002
NM_002225.5(IVD):c.9T>C (p.Thr3=) rs370886046 0.00002
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys) rs771010169 0.00002
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=) rs757799492 0.00002
NM_005050.4(ABCD4):c.1559+20G>A rs572419384 0.00002
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=) rs141766346 0.00002
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=) rs761917106 0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val) rs763842574 0.00002
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln) rs368694663 0.00002
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile) rs764251926 0.00002
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=) rs782472950 0.00002
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=) rs782517377 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435 0.00002
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=) rs1436495630 0.00002
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=) rs1557114580 0.00002
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) rs782014460 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly) rs868914963 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser) rs782399563 0.00002
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) rs373289538 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00002
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) rs782560491 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023 0.00002
NM_005334.3(HCFC1):c.504-5G>A rs1362015008 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517+16T>A rs782354980 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=) rs781929046 0.00002
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) rs782385961 0.00002
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys) rs778434126 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_014362.4(HIBCH):c.438+11T>G rs1414998551 0.00002
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn) rs150537378 0.00002
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser) rs779459988 0.00002
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg) rs371033488 0.00002
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu) rs1433228446 0.00002
NM_014384.3(ACAD8):c.491-6C>T rs772337149 0.00002
NM_014384.3(ACAD8):c.841+6A>C rs199738913 0.00002
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln) rs121908422 0.00002
NM_015506.2(MMACHC):c.-123A>T rs539415170 0.00002
NM_015506.3(MMACHC):c.105G>A (p.Leu35=) rs1415635839 0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015506.3(MMACHC):c.354G>A (p.Gln118=) rs765769901 0.00002
NM_015506.3(MMACHC):c.414C>T (p.Asp138=) rs775173474 0.00002
NM_015506.3(MMACHC):c.429+14T>G rs371226986 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu) rs371004372 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015506.3(MMACHC):c.810C>T (p.Leu270=) rs778330842 0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010 0.00002
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) rs777544556 0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) rs760971849 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter) rs1431992617 0.00002
NM_015702.3(MMADHC):c.537A>G (p.Thr179=) rs377571291 0.00002
NM_015702.3(MMADHC):c.615C>T (p.Ile205=) rs986210972 0.00002
NM_015702.3(MMADHC):c.697-3C>T rs770272562 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) rs118204044 0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) rs753424109 0.00002
NM_018368.4(LMBRD1):c.1188+7A>T rs375681915 0.00002
NM_018368.4(LMBRD1):c.1339-1G>T rs768709895 0.00002
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr) rs1340799992 0.00002
NM_018368.4(LMBRD1):c.1418-16T>C rs753105951 0.00002
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=) rs944285630 0.00002
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val) rs775365046 0.00002
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=) rs368494826 0.00002
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser) rs376076271 0.00002
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867 0.00002
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln) rs747354714 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072 0.00002
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu) rs371219844 0.00002
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) rs756076414 0.00002
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) rs761480737 0.00002
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) rs147087448 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr) rs778145370 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) rs375326791 0.00002
NM_020166.5(MCCC1):c.603T>C (p.Pro201=) rs765869735 0.00002
NM_020166.5(MCCC1):c.618C>T (p.Ala206=) rs760366008 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.639+9G>T rs780170482 0.00002
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln) rs148088842 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.761+14A>G rs372797109 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_022132.5(MCCC2):c.*659C>T rs886060740 0.00002
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=) rs766440020 0.00002
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala) rs752139859 0.00002
NM_022132.5(MCCC2):c.1216+8A>G rs532313245 0.00002
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) rs754213093 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys) rs145475202 0.00002
NM_022132.5(MCCC2):c.1373+18C>T rs200716557 0.00002
NM_022132.5(MCCC2):c.1488+10del rs767400522 0.00002
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) rs979584886 0.00002
NM_022132.5(MCCC2):c.1574+1G>A rs730880265 0.00002
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn) rs771011115 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_022132.5(MCCC2):c.78C>T (p.Asp26=) rs774475879 0.00002
NM_022132.5(MCCC2):c.903+9G>A rs747069963 0.00002
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*420A>G rs868102539 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5644A>G rs1393651897 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_025136.4(OPA3):c.*6124C>T rs1389766474 0.00002
NM_025136.4(OPA3):c.*964G>A rs1969350328 0.00002
NM_025136.4(OPA3):c.142+16A>G rs1969904812 0.00002
NM_025136.4(OPA3):c.15G>C (p.Ala5=) rs763315476 0.00002
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_025136.4(OPA3):c.333G>A (p.Lys111=) rs761583193 0.00002
NM_025136.4(OPA3):c.336G>A (p.Glu112=) rs146349367 0.00002
NM_025136.4(OPA3):c.351T>C (p.Ala117=) rs760489108 0.00002
NM_025136.4(OPA3):c.519A>G (p.Ala173=) rs1200579847 0.00002
NM_025136.4(OPA3):c.528G>A (p.Ala176=) rs752240099 0.00002
NM_025136.4(OPA3):c.540G>A (p.Ter180=) rs774281852 0.00002
NM_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val) rs367903368 0.00002
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His) rs1331741437 0.00002
NM_032861.4(SERAC1):c.1684+7C>A rs765831183 0.00002
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile) rs780572089 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.266-11A>G rs574469098 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_032861.4(SERAC1):c.487+5T>C rs748641688 0.00002
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe) rs1449129513 0.00002
NM_052845.4(MMAB):c.*1747A>G rs886048917 0.00002
NM_052845.4(MMAB):c.*2619A>T rs778528128 0.00002
NM_052845.4(MMAB):c.*2783G>A rs1012338830 0.00002
NM_052845.4(MMAB):c.*2890C>T rs1005573398 0.00002
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) rs1481415459 0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00002
NM_052845.4(MMAB):c.618T>C (p.Asp206=) rs1461731163 0.00002
NM_052845.4(MMAB):c.644+8C>T rs770159367 0.00002
NM_052845.4(MMAB):c.645-6C>T rs766039550 0.00002
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp) rs767706407 0.00002
NM_145261.4(DNAJC19):c.129+6A>G rs192629594 0.00002
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221 0.00002
NM_145261.4(DNAJC19):c.210-17T>C rs750700018 0.00002
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg) rs776130966 0.00002
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=) rs367996239 0.00002
NM_172250.3(MMAA):c.*152A>G rs749564150 0.00002
NM_172250.3(MMAA):c.*1918G>A rs755382235 0.00002
NM_172250.3(MMAA):c.1059G>A (p.Gly353=) rs552250080 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_172250.3(MMAA):c.1140G>A (p.Arg380=) rs1209585004 0.00002
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726 0.00002
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg) rs772082690 0.00002
NM_172250.3(MMAA):c.585C>T (p.Thr195=) rs571797666 0.00002
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu) rs746853773 0.00002
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670 0.00002
NM_172250.3(MMAA):c.970-6C>T rs774402841 0.00002
NM_000019.3(ACAT1):c.*291A>C rs771132416 0.00001
NM_000019.3(ACAT1):c.*591A>T rs886047604 0.00001
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=) rs1453736760 0.00001
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=) rs756978324 0.00001
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=) rs778512952 0.00001
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val) rs120074143 0.00001
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093 0.00001
NM_000019.4(ACAT1):c.1163+1G>A rs1423476705 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn) rs746332363 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.120+1G>C rs779908220 0.00001
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=) rs1382129086 0.00001
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=) rs1430318016 0.00001
NM_000019.4(ACAT1):c.129C>T (p.Val43=) rs773917391 0.00001
NM_000019.4(ACAT1):c.138T>C (p.Ser46=) rs763375578 0.00001
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr) rs151080188 0.00001
NM_000019.4(ACAT1):c.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.1A>G (p.Met1Val) rs1305448140 0.00001
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met) rs1465674363 0.00001
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys) rs772848693 0.00001
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter) rs748425041 0.00001
NM_000019.4(ACAT1):c.267A>G (p.Ala89=) rs1380608828 0.00001
NM_000019.4(ACAT1):c.30del (p.Ser10fs) rs1565281236 0.00001
NM_000019.4(ACAT1):c.348T>C (p.Ser116=) rs372836412 0.00001
NM_000019.4(ACAT1):c.354A>G (p.Pro118=) rs762367702 0.00001
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser) rs1278227329 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) rs1591363760 0.00001
NM_000019.4(ACAT1):c.39C>T (p.Arg13=) rs908924449 0.00001
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu) rs750876321 0.00001
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr) rs758930842 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000019.4(ACAT1):c.438T>C (p.Asp146=) rs1447450319 0.00001
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys) rs757688736 0.00001
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000019.4(ACAT1):c.477T>G (p.Val159=) rs1200544048 0.00001
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile) rs778705529 0.00001
NM_000019.4(ACAT1):c.48C>T (p.Ser16=) rs1196108614 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val) rs915506786 0.00001
NM_000019.4(ACAT1):c.627T>C (p.Asn209=) rs771160678 0.00001
NM_000019.4(ACAT1):c.699T>C (p.Asn233=) rs1409696819 0.00001
NM_000019.4(ACAT1):c.72+13C>T rs780504384 0.00001
NM_000019.4(ACAT1):c.749del (p.Val250fs) rs1565293957 0.00001
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys) rs2077588609 0.00001
NM_000019.4(ACAT1):c.759T>C (p.Asp253=) rs983216159 0.00001
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144 0.00001
NM_000019.4(ACAT1):c.826+1G>T rs727503796 0.00001
NM_000019.4(ACAT1):c.826+5_826+9del rs1410743762 0.00001
NM_000019.4(ACAT1):c.864T>C (p.Asp288=) rs747272327 0.00001
NM_000019.4(ACAT1):c.867A>C (p.Gly289=) rs201725995 0.00001
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro) rs1420321267 0.00001
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val) rs747860630 0.00001
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser) rs562043215 0.00001
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr) rs120074146 0.00001
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) rs780486838 0.00001
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala) rs1184689716 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) rs1469248513 0.00001
NM_000116.5(TAFAZZIN):c.110-6C>G rs782099193 0.00001
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=) rs782470471 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) rs782223969 0.00001
NM_000116.5(TAFAZZIN):c.238+11C>G rs1163786089 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.461-16G>C rs782759146 0.00001
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303 0.00001
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=) rs782498534 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=) rs781846964 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390 0.00001
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597 0.00001
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479 0.00001
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041 0.00001
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=) rs368990588 0.00001
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_000191.3(HMGCL):c.*388G>A rs145874467 0.00001
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.141A>G (p.Glu47=) rs776280224 0.00001
NM_000191.3(HMGCL):c.144+1G>A rs1638698732 0.00001
NM_000191.3(HMGCL):c.145-4A>G rs963436984 0.00001
NM_000191.3(HMGCL):c.159T>A (p.Thr53=) rs1638634324 0.00001
NM_000191.3(HMGCL):c.252+17A>G rs773700977 0.00001
NM_000191.3(HMGCL):c.27G>T (p.Pro9=) rs1337954372 0.00001
NM_000191.3(HMGCL):c.30G>A (p.Arg10=) rs1284448239 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.339C>T (p.Phe113=) rs112352538 0.00001
NM_000191.3(HMGCL):c.345A>C (p.Ala115=) rs761706911 0.00001
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val) rs368145582 0.00001
NM_000191.3(HMGCL):c.348+7G>A rs746088233 0.00001
NM_000191.3(HMGCL):c.349-10A>T rs755304948 0.00001
NM_000191.3(HMGCL):c.390C>T (p.Ala130=) rs141872588 0.00001
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu) rs1570650181 0.00001
NM_000191.3(HMGCL):c.399C>T (p.Leu133=) rs760474502 0.00001
NM_000191.3(HMGCL):c.441T>C (p.Phe147=) rs777819749 0.00001
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156 0.00001
NM_000191.3(HMGCL):c.477A>C (p.Ser159=) rs1304272931 0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000191.3(HMGCL):c.498-14_498-13del rs753940756 0.00001
NM_000191.3(HMGCL):c.498-7C>T rs764007608 0.00001
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile) rs759288306 0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg) rs747529727 0.00001
NM_000191.3(HMGCL):c.561+20C>T rs781059597 0.00001
NM_000191.3(HMGCL):c.561+7G>A rs773091131 0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys) rs1303119110 0.00001
NM_000191.3(HMGCL):c.60+7G>A rs368461149 0.00001
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr) rs760106433 0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373 0.00001
NM_000191.3(HMGCL):c.687C>T (p.Ala229=) rs1638447338 0.00001
NM_000191.3(HMGCL):c.704A>G (p.His235Arg) rs990313450 0.00001
NM_000191.3(HMGCL):c.711C>T (p.Thr237=) rs754976763 0.00001
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025 0.00001
NM_000191.3(HMGCL):c.750+8A>G rs771868826 0.00001
NM_000191.3(HMGCL):c.762T>C (p.Ser254=) rs983682054 0.00001
NM_000191.3(HMGCL):c.766G>A (p.Val256Met) rs764238653 0.00001
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile) rs1025294353 0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073 0.00001
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg) rs750347526 0.00001
NM_000191.3(HMGCL):c.816A>T (p.Ala272=) rs141340718 0.00001
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg) rs1391067821 0.00001
NM_000191.3(HMGCL):c.825C>T (p.Asn275=) rs1287973337 0.00001
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194 0.00001
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568 0.00001
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804 0.00001
NM_000191.3(HMGCL):c.876+20G>A rs749917434 0.00001
NM_000191.3(HMGCL):c.90A>G (p.Pro30=) rs767787302 0.00001
NM_000191.3(HMGCL):c.921T>C (p.Cys307=) rs777324642 0.00001
NM_000191.3(HMGCL):c.977G>A (p.Ter326=) rs1303767209 0.00001
NM_000255.4(MMUT):c.*103A>G rs886061558 0.00001
NM_000255.4(MMUT):c.*1319C>T rs541645779 0.00001
NM_000255.4(MMUT):c.*636T>A rs1262925761 0.00001
NM_000255.4(MMUT):c.1084-2A>G rs879253839 0.00001
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser) rs563776413 0.00001
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu) rs121918250 0.00001
NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter) rs748129702 0.00001
NM_000255.4(MMUT):c.1261G>A (p.Val421Met) rs746763824 0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303 0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255 0.00001
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln) rs147737629 0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161 0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488 0.00001
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) rs762792688 0.00001
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp) rs769270504 0.00001
NM_000255.4(MMUT):c.1560+1G>T rs200019422 0.00001
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559 0.00001
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys) rs770978452 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428 0.00001
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala) rs569669261 0.00001
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087 0.00001
NM_000255.4(MMUT):c.1957-2A>G rs1554158379 0.00001
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala) rs1767102899 0.00001
NM_000255.4(MMUT):c.2046T>C (p.Val682=) rs201456803 0.00001
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg) rs864309739 0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746 0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936 0.00001
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919 0.00001
NM_000255.4(MMUT):c.235A>G (p.Met79Val) rs751177187 0.00001
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060 0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418 0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249 0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys) rs121918257 0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778 0.00001
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser) rs776108716 0.00001
NM_000255.4(MMUT):c.406G>A (p.Val136Ile) rs1767739165 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818 0.00001
NM_000255.4(MMUT):c.499G>A (p.Val167Met) rs755709278 0.00001
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) rs864309733 0.00001
NM_000255.4(MMUT):c.545T>G (p.Met182Arg) rs763208217 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr) rs1313120333 0.00001
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu) rs1254433398 0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777 0.00001
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693 0.00001
NM_000255.4(MMUT):c.753+1G>A rs1028877309 0.00001
NM_000255.4(MMUT):c.7A>T (p.Arg3Ter) rs750583669 0.00001
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560 0.00001
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692 0.00001
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246 0.00001
NM_000255.4(MMUT):c.954A>G (p.Glu318=) rs1471303851 0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002 0.00001
NM_000255.4(MMUT):c.987G>A (p.Trp329Ter) rs750475071 0.00001
NM_000282.4(PCCA):c.105+16G>A rs2046038909 0.00001
NM_000282.4(PCCA):c.106-10T>C rs770940740 0.00001
NM_000282.4(PCCA):c.1065+10A>G rs1428223017 0.00001
NM_000282.4(PCCA):c.1065+12T>A rs1013549378 0.00001
NM_000282.4(PCCA):c.1065+15T>C rs762540382 0.00001
NM_000282.4(PCCA):c.1066-13C>T rs372186963 0.00001
NM_000282.4(PCCA):c.1071G>A (p.Glu357=) rs761295534 0.00001
NM_000282.4(PCCA):c.1089C>T (p.Cys363=) rs766934571 0.00001
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg) rs752995083 0.00001
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys) rs758588772 0.00001
NM_000282.4(PCCA):c.1124G>A (p.Arg375His) rs778042583 0.00001
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter) rs1165198558 0.00001
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp) rs1234167788 0.00001
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln) rs1301904623 0.00001
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys) rs981962098 0.00001
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) rs1443858896 0.00001
NM_000282.4(PCCA):c.1269G>A (p.Pro423=) rs778642206 0.00001
NM_000282.4(PCCA):c.1284+17T>G rs531058073 0.00001
NM_000282.4(PCCA):c.1285-10T>C rs1186262441 0.00001
NM_000282.4(PCCA):c.1285-15C>T rs779554504 0.00001
NM_000282.4(PCCA):c.1285-20T>C rs1227568974 0.00001
NM_000282.4(PCCA):c.1285-5C>T rs773331326 0.00001
NM_000282.4(PCCA):c.1291G>A (p.Val431Met) rs1464775522 0.00001
NM_000282.4(PCCA):c.12C>T (p.Phe4=) rs759257021 0.00001
NM_000282.4(PCCA):c.1326C>T (p.Ser442=) rs934310912 0.00001
NM_000282.4(PCCA):c.1353+16C>T rs573543059 0.00001
NM_000282.4(PCCA):c.1353+18A>G rs369105635 0.00001
NM_000282.4(PCCA):c.1354-10T>C rs750041912 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.1437A>G (p.Thr479=) rs1224037636 0.00001
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr) rs1349455848 0.00001
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys) rs753955254 0.00001
NM_000282.4(PCCA):c.1518T>C (p.Asp506=) rs1214787896 0.00001
NM_000282.4(PCCA):c.1540+15A>C rs372830595 0.00001
NM_000282.4(PCCA):c.1540+1G>C rs199604072 0.00001
NM_000282.4(PCCA):c.1540+5G>C rs371430625 0.00001
NM_000282.4(PCCA):c.1541-15A>G rs748759552 0.00001
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp) rs755553674 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly) rs2071094349 0.00001
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile) rs759831592 0.00001
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477 0.00001
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu) rs755890592 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr) rs2079091190 0.00001
NM_000282.4(PCCA):c.1764G>A (p.Ser588=) rs772158996 0.00001
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys) rs778065877 0.00001
NM_000282.4(PCCA):c.1785G>A (p.Thr595=) rs766312551 0.00001
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) rs776496862 0.00001
NM_000282.4(PCCA):c.1800G>A (p.Ser600=) rs761681712 0.00001
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser) rs752459931 0.00001
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser) rs1427313509 0.00001
NM_000282.4(PCCA):c.180A>G (p.Glu60=) rs1003935202 0.00001
NM_000282.4(PCCA):c.1818C>T (p.Ser606=) rs763647197 0.00001
NM_000282.4(PCCA):c.1824T>C (p.Asp608=) rs1008553303 0.00001
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser) rs749767976 0.00001
NM_000282.4(PCCA):c.183+1G>A rs757540625 0.00001
NM_000282.4(PCCA):c.184-5T>C rs780230606 0.00001
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter) rs1194679272 0.00001
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val) rs1163083290 0.00001
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys) rs1400179119 0.00001
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser) rs796052018 0.00001
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala) rs376313696 0.00001
NM_000282.4(PCCA):c.1899+7A>G rs950344042 0.00001
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser) rs149772960 0.00001
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp) rs891469566 0.00001
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn) rs764651081 0.00001
NM_000282.4(PCCA):c.1995G>A (p.Pro665=) rs1357780167 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861 0.00001
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) rs771438170 0.00001
NM_000282.4(PCCA):c.2010G>A (p.Val670=) rs1343608733 0.00001
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176 0.00001
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr) rs201570489 0.00001
NM_000282.4(PCCA):c.2041-2A>G rs776281864 0.00001
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter) rs1241896966 0.00001
NM_000282.4(PCCA):c.2118+10T>C rs1318351775 0.00001
NM_000282.4(PCCA):c.2119-5T>G rs752895575 0.00001
NM_000282.4(PCCA):c.2119-9A>G rs1389933015 0.00001
NM_000282.4(PCCA):c.2136T>C (p.Cys712=) rs781085655 0.00001
NM_000282.4(PCCA):c.2173G>A (p.Val725Met) rs747593363 0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.231+1G>C rs972937270 0.00001
NM_000282.4(PCCA):c.231+8G>A rs199996461 0.00001
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg) rs1203679401 0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678 0.00001
NM_000282.4(PCCA):c.30G>T (p.Pro10=) rs1206173421 0.00001
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr) rs1482878054 0.00001
NM_000282.4(PCCA):c.405G>A (p.Arg135=) rs996873957 0.00001
NM_000282.4(PCCA):c.414+7C>G rs1051098122 0.00001
NM_000282.4(PCCA):c.415-2A>C rs746286209 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter) rs2053984648 0.00001
NM_000282.4(PCCA):c.453A>G (p.Glu151=) rs897110640 0.00001
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser) rs772068496 0.00001
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser) rs773032396 0.00001
NM_000282.4(PCCA):c.484G>A (p.Val162Ile) rs1442819667 0.00001
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905 0.00001
NM_000282.4(PCCA):c.570T>C (p.Asn190=) rs747026505 0.00001
NM_000282.4(PCCA):c.601-13C>T rs1367838556 0.00001
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu) rs1367928921 0.00001
NM_000282.4(PCCA):c.637+18C>A rs758676556 0.00001
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn) rs749118295 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro) rs1566436392 0.00001
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly) rs760244758 0.00001
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys) rs770371734 0.00001
NM_000282.4(PCCA):c.717-8T>C rs1367148068 0.00001
NM_000282.4(PCCA):c.762C>T (p.Gly254=) rs758211858 0.00001
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu) rs769286299 0.00001
NM_000282.4(PCCA):c.819+19C>G rs1566819775 0.00001
NM_000282.4(PCCA):c.819+20T>C rs759539188 0.00001
NM_000282.4(PCCA):c.849A>G (p.Leu283=) rs1357373616 0.00001
NM_000282.4(PCCA):c.858T>C (p.Asn286=) rs778427348 0.00001
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys) rs879253810 0.00001
NM_000282.4(PCCA):c.864A>G (p.Arg288=) rs771222501 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000282.4(PCCA):c.914+3A>G rs749376990 0.00001
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser) rs749617899 0.00001
NM_000282.4(PCCA):c.987T>C (p.Tyr329=) rs778986379 0.00001
NM_000411.8(HLCS):c.-393+7C>T rs886057081 0.00001
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=) rs769437282 0.00001
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr) rs757258397 0.00001
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser) rs747309318 0.00001
NM_000532.5(PCCB):c.1091-14C>A rs1053805085 0.00001
NM_000532.5(PCCB):c.1091-6T>C rs778146041 0.00001
NM_000532.5(PCCB):c.1096T>C (p.Leu366=) rs779828803 0.00001
NM_000532.5(PCCB):c.1104T>C (p.Ile368=) rs768328410 0.00001
NM_000532.5(PCCB):c.1107T>C (p.Asn369=) rs1025062139 0.00001
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu) rs1277882976 0.00001
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly) rs201138170 0.00001
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr) rs182412270 0.00001
NM_000532.5(PCCB):c.1173T>C (p.Phe391=) rs751750136 0.00001
NM_000532.5(PCCB):c.1198+19G>A rs923951408 0.00001
NM_000532.5(PCCB):c.1199-4C>T rs1361484856 0.00001
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.1224C>T (p.Ile408=) rs773701247 0.00001
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=) rs781546348 0.00001
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly) rs770279302 0.00001
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542 0.00001
NM_000532.5(PCCB):c.128G>A (p.Arg43His) rs1941481863 0.00001
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn) rs774942448 0.00001
NM_000532.5(PCCB):c.1300-11A>G rs200406126 0.00001
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672 0.00001
NM_000532.5(PCCB):c.1302C>T (p.Ala434=) rs755024380 0.00001
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp) rs749210374 0.00001
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436 0.00001
NM_000532.5(PCCB):c.1344T>C (p.Cys448=) rs1306702510 0.00001
NM_000532.5(PCCB):c.1368C>T (p.Pro456=) rs776005238 0.00001
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile) rs1301343613 0.00001
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val) rs376998134 0.00001
NM_000532.5(PCCB):c.1383A>C (p.Ala461=) rs1354285306 0.00001
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) rs796052026 0.00001
NM_000532.5(PCCB):c.1399-10C>T rs774180307 0.00001
NM_000532.5(PCCB):c.1399-2_1399-1del rs1317123493 0.00001
NM_000532.5(PCCB):c.139C>G (p.Leu47Val) rs199935380 0.00001
NM_000532.5(PCCB):c.1401C>T (p.Gly467=) rs142915585 0.00001
NM_000532.5(PCCB):c.142C>T (p.Leu48=) rs376983709 0.00001
NM_000532.5(PCCB):c.1431G>A (p.Glu477=) rs989893902 0.00001
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg) rs1368586445 0.00001
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser) rs752000929 0.00001
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His) rs143190442 0.00001
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser) rs1935428949 0.00001
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter) rs202247820 0.00001
NM_000532.5(PCCB):c.1499-6C>T rs769854818 0.00001
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser) rs1483082276 0.00001
NM_000532.5(PCCB):c.1504G>A (p.Val502Met) rs763024986 0.00001
NM_000532.5(PCCB):c.1521A>G (p.Gln507=) rs774461715 0.00001
NM_000532.5(PCCB):c.1535G>A (p.Arg512His) rs764697873 0.00001
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro) rs202247822 0.00001
NM_000532.5(PCCB):c.1614A>G (p.Pro538=) rs767287287 0.00001
NM_000532.5(PCCB):c.168C>T (p.Asp56=) rs759008477 0.00001
NM_000532.5(PCCB):c.177C>G (p.His59Gln) rs757134877 0.00001
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln) rs909550005 0.00001
NM_000532.5(PCCB):c.183+12_183+31dup rs745694339 0.00001
NM_000532.5(PCCB):c.183+7C>G rs1039491317 0.00001
NM_000532.5(PCCB):c.263A>G (p.His88Arg) rs771333669 0.00001
NM_000532.5(PCCB):c.27G>A (p.Ala9=) rs1402404407 0.00001
NM_000532.5(PCCB):c.297G>A (p.Lys99=) rs768256081 0.00001
NM_000532.5(PCCB):c.303+13A>G rs533887723 0.00001
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys) rs1248879007 0.00001
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg) rs757860152 0.00001
NM_000532.5(PCCB):c.321G>C (p.Val107=) rs201915067 0.00001
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000532.5(PCCB):c.348A>G (p.Gly116=) rs1057522223 0.00001
NM_000532.5(PCCB):c.371del (p.Gln124fs) rs1481849460 0.00001
NM_000532.5(PCCB):c.373-13A>G rs1559997795 0.00001
NM_000532.5(PCCB):c.373-7T>G rs995479007 0.00001
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys) rs1941477030 0.00001
NM_000532.5(PCCB):c.3G>A (p.Met1Ile) rs398123464 0.00001
NM_000532.5(PCCB):c.410A>G (p.His137Arg) rs1391142709 0.00001
NM_000532.5(PCCB):c.414C>T (p.Ala138=) rs781142631 0.00001
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser) rs1468203736 0.00001
NM_000532.5(PCCB):c.46G>T (p.Val16Phe) rs780842004 0.00001
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp) rs879253815 0.00001
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln) rs1304714042 0.00001
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960 0.00001
NM_000532.5(PCCB):c.507A>C (p.Gly169=) rs1334504053 0.00001
NM_000532.5(PCCB):c.544-2A>G rs752377212 0.00001
NM_000532.5(PCCB):c.544-4G>A rs1390317726 0.00001
NM_000532.5(PCCB):c.54G>A (p.Ala18=) rs1343618692 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala) rs1237531952 0.00001
NM_000532.5(PCCB):c.583C>G (p.Leu195Val) rs747267484 0.00001
NM_000532.5(PCCB):c.597A>G (p.Pro199=) rs773799305 0.00001
NM_000532.5(PCCB):c.627C>T (p.Ala209=) rs1157323383 0.00001
NM_000532.5(PCCB):c.630A>C (p.Leu210=) rs1269554950 0.00001
NM_000532.5(PCCB):c.630A>G (p.Leu210=) rs1269554950 0.00001
NM_000532.5(PCCB):c.63C>G (p.Leu21=) rs1941478618 0.00001
NM_000532.5(PCCB):c.645C>T (p.Phe215=) rs1250882565 0.00001
NM_000532.5(PCCB):c.646A>G (p.Met216Val) rs747252352 0.00001
NM_000532.5(PCCB):c.654+14G>T rs1457950469 0.00001
NM_000532.5(PCCB):c.660C>T (p.Thr220=) rs376645261 0.00001
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr) rs772483250 0.00001
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile) rs762986402 0.00001
NM_000532.5(PCCB):c.723G>A (p.Gln241=) rs751695055 0.00001
NM_000532.5(PCCB):c.732C>T (p.Leu244=) rs752940167 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) rs778242891 0.00001
NM_000532.5(PCCB):c.741C>T (p.Ala247=) rs191115697 0.00001
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg) rs1365706286 0.00001
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile) rs779581071 0.00001
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544 0.00001
NM_000532.5(PCCB):c.758T>C (p.Met253Thr) rs747881252 0.00001
NM_000532.5(PCCB):c.75C>T (p.Val25=) rs761030422 0.00001
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp) rs529945350 0.00001
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser) rs749071200 0.00001
NM_000532.5(PCCB):c.801C>T (p.Ala267=) rs759508806 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_000532.5(PCCB):c.825dup (p.Asn276fs) rs748393514 0.00001
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe) rs765843410 0.00001
NM_000532.5(PCCB):c.876C>G (p.His292Gln) rs776893713 0.00001
NM_000532.5(PCCB):c.884+14C>T rs372020160 0.00001
NM_000532.5(PCCB):c.884+15G>A rs374909979 0.00001
NM_000532.5(PCCB):c.885-7C>T rs1427637783 0.00001
NM_000532.5(PCCB):c.888C>T (p.Asp296=) rs753285409 0.00001
NM_000532.5(PCCB):c.907G>C (p.Asp303His) rs943266027 0.00001
NM_000532.5(PCCB):c.909C>T (p.Asp303=) rs375740382 0.00001
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu) rs1370289032 0.00001
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667 0.00001
NM_000532.5(PCCB):c.942C>T (p.Tyr314=) rs572246667 0.00001
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp) rs1456890228 0.00001
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser) rs558836100 0.00001
NM_000532.5(PCCB):c.966+20G>A rs778065472 0.00001
NM_000532.5(PCCB):c.966+9C>T rs1325021223 0.00001
NM_000532.5(PCCB):c.966T>C (p.Ser322=) rs1269805994 0.00001
NM_000532.5(PCCB):c.967-3C>T rs1186569803 0.00001
NM_000532.5(PCCB):c.975T>C (p.Asp325=) rs746146640 0.00001
NM_000532.5(PCCB):c.978G>A (p.Glu326=) rs1419967211 0.00001
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys) rs377660729 0.00001
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445 0.00001
NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln) rs778355943 0.00001
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807 0.00001
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112 0.00001
NM_001001563.5(TIMM50):c.854-8G>C rs1166132682 0.00001
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805 0.00001
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln) rs1358680743 0.00001
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=) rs757799912 0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) rs779630954 0.00001
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=) rs747906365 0.00001
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=) rs779450250 0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr) rs1184733927 0.00001
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) rs148716626 0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) rs142288136 0.00001
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=) rs967555706 0.00001
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=) rs765752531 0.00001
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=) rs750959933 0.00001
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=) rs1373279774 0.00001
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953 0.00001
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) rs747598756 0.00001
NM_001243279.3(ACSF3):c.1212C>T (p.His404=) rs750140114 0.00001
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=) rs766100388 0.00001
NM_001243279.3(ACSF3):c.1239+9C>G rs376238513 0.00001
NM_001243279.3(ACSF3):c.12T>C (p.His4=) rs1210564027 0.00001
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) rs766764090 0.00001
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) rs1243213118 0.00001
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) rs776995095 0.00001
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser) rs554194567 0.00001
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=) rs1321315792 0.00001
NM_001243279.3(ACSF3):c.1366+8C>T rs773327286 0.00001
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) rs761654873 0.00001
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His) rs776369896 0.00001
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu) rs1272786593 0.00001
NM_001243279.3(ACSF3):c.1501+10C>T rs375729407 0.00001
NM_001243279.3(ACSF3):c.1502-10C>T rs573043890 0.00001
NM_001243279.3(ACSF3):c.1502-2A>G rs1188774860 0.00001
NM_001243279.3(ACSF3):c.1502-8A>G rs760700508 0.00001
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter) rs1025201214 0.00001
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) rs387907118 0.00001
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) rs1457774840 0.00001
NM_001243279.3(ACSF3):c.1613+1G>A rs770400253 0.00001
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) rs149803422 0.00001
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=) rs757338614 0.00001
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=) rs1025781878 0.00001
NM_001243279.3(ACSF3):c.1722C>T (p.His574=) rs757130082 0.00001
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) rs780402535 0.00001
NM_001243279.3(ACSF3):c.189C>T (p.His63=) rs562260243 0.00001
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=) rs1259149379 0.00001
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His) rs750707295 0.00001
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692 0.00001
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) rs760759040 0.00001
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=) rs763021932 0.00001
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) rs754782061 0.00001
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 0.00001
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val) rs1441479986 0.00001
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=) rs541662926 0.00001
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=) rs905316715 0.00001
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter) rs1313088429 0.00001
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) rs775755554 0.00001
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) rs774006659 0.00001
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=) rs1377484799 0.00001
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) rs775166866 0.00001
NM_001243279.3(ACSF3):c.555C>T (p.Val185=) rs1260446910 0.00001
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) rs373441358 0.00001
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr) rs761573352 0.00001
NM_001243279.3(ACSF3):c.648C>T (p.His216=) rs377553361 0.00001
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=) rs1374928980 0.00001
NM_001243279.3(ACSF3):c.666+1G>A rs1336382616 0.00001
NM_001243279.3(ACSF3):c.666+20G>A rs557738566 0.00001
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg) rs775694971 0.00001
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=) rs1336029211 0.00001
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) rs766852572 0.00001
NM_001243279.3(ACSF3):c.738C>T (p.His246=) rs112722289 0.00001
NM_001243279.3(ACSF3):c.741C>A (p.Val247=) rs773357766 0.00001
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) rs764919377 0.00001
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser) rs1975498120 0.00001
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=) rs1321795303 0.00001
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter) rs749538361 0.00001
NM_001243279.3(ACSF3):c.823-5C>T rs192714121 0.00001
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) rs759338401 0.00001
NM_001243279.3(ACSF3):c.866del (p.Val289fs) rs758740850 0.00001
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=) rs942841837 0.00001
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=) rs1165098721 0.00001
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645 0.00001
NM_001258392.3(CLPB):c.1067-4C>A rs1311832888 0.00001
NM_001258392.3(CLPB):c.1123-14T>C rs761493633 0.00001
NM_001258392.3(CLPB):c.1123-3C>T rs764474532 0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137 0.00001
NM_001258392.3(CLPB):c.1167+6T>C rs748976093 0.00001
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=) rs1363666590 0.00001
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=) rs536717344 0.00001
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala) rs1258428897 0.00001
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met) rs140355579 0.00001
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys) rs536485763 0.00001
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=) rs539751194 0.00001
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr) rs770073084 0.00001
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=) rs776452795 0.00001
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202 0.00001
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=) rs1315933008 0.00001
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=) rs747632383 0.00001
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139 0.00001
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609 0.00001
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=) rs750997439 0.00001
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=) rs752870447 0.00001
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys) rs773040549 0.00001
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His) rs568455218 0.00001
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys) rs376835047 0.00001
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr) rs918777173 0.00001
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg) rs571871217 0.00001
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035 0.00001
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197 0.00001
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile) rs776356646 0.00001
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392 0.00001
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu) rs1430716011 0.00001
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr) rs780169796 0.00001
NM_001258392.3(CLPB):c.1681-14C>T rs746122828 0.00001
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys) rs186989806 0.00001
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306 0.00001
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn) rs776835116 0.00001
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser) rs747198658 0.00001
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr) rs1949500581 0.00001
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln) rs779976853 0.00001
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr) rs1442380307 0.00001
NM_001258392.3(CLPB):c.1785+7A>G rs745442561 0.00001
NM_001258392.3(CLPB):c.1785+8C>T rs1446394124 0.00001
NM_001258392.3(CLPB):c.1786-5G>A rs756715990 0.00001
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala) rs1331493457 0.00001
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val) rs1247332355 0.00001
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg) rs201668123 0.00001
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=) rs757217501 0.00001
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys) rs1254521420 0.00001
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387 0.00001
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser) rs567785578 0.00001
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700 0.00001
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val) rs751423546 0.00001
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser) rs960976552 0.00001
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335 0.00001
NM_001258392.3(CLPB):c.269G>A (p.Arg90His) rs762324677 0.00001
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr) rs369149141 0.00001
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys) rs747589481 0.00001
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly) rs1191592329 0.00001
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812 0.00001
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu) rs141495575 0.00001
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val) rs750927442 0.00001
NM_001258392.3(CLPB):c.39G>A (p.Ala13=) rs572605602 0.00001
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser) rs1323542690 0.00001
NM_001258392.3(CLPB):c.456-3T>A rs751918724 0.00001
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059 0.00001
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter) rs774185980 0.00001
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953 0.00001
NM_001258392.3(CLPB):c.58C>T (p.Leu20=) rs150558227 0.00001
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys) rs767714428 0.00001
NM_001258392.3(CLPB):c.646+13T>C rs370275901 0.00001
NM_001258392.3(CLPB):c.647-6C>T rs1377454533 0.00001
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala) rs754211386 0.00001
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu) rs766759416 0.00001
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg) rs761122843 0.00001
NM_001258392.3(CLPB):c.771T>C (p.Asp257=) rs143460015 0.00001
NM_001258392.3(CLPB):c.775+13G>A rs746972083 0.00001
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu) rs543347319 0.00001
NM_001258392.3(CLPB):c.817T>C (p.Leu273=) rs1950189871 0.00001
NM_001258392.3(CLPB):c.849G>A (p.Lys283=) rs759743960 0.00001
NM_001258392.3(CLPB):c.873+12G>A rs199805574 0.00001
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp) rs747344641 0.00001
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys) rs1199370784 0.00001
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln) rs751427024 0.00001
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr) rs759050719 0.00001
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_001352514.2(HLCS):c.*1766G>A rs537534748 0.00001
NM_001352514.2(HLCS):c.*2434G>T rs886057062 0.00001
NM_001352514.2(HLCS):c.*2700C>T rs140135359 0.00001
NM_001352514.2(HLCS):c.*2847G>A rs1269300334 0.00001
NM_001352514.2(HLCS):c.*3043A>G rs539444862 0.00001
NM_001352514.2(HLCS):c.*3209C>T rs886057059 0.00001
NM_001352514.2(HLCS):c.*448G>C rs772947158 0.00001
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=) rs568871363 0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg) rs28934602 0.00001
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs) rs773102942 0.00001
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=) rs773020648 0.00001
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=) rs765979436 0.00001
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=) rs1395979008 0.00001
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=) rs1188065092 0.00001
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala) rs1259711297 0.00001
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=) rs776771975 0.00001
NM_001352514.2(HLCS):c.1242C>G (p.Val414=) rs772203778 0.00001
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys) rs763927037 0.00001
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=) rs760694310 0.00001
NM_001352514.2(HLCS):c.1395T>C (p.His465=) rs2066885260 0.00001
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=) rs533602689 0.00001
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=) rs1034237557 0.00001
NM_001352514.2(HLCS):c.1437+7A>G rs1240794985 0.00001
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=) rs772808561 0.00001
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=) rs201862206 0.00001
NM_001352514.2(HLCS):c.1621-2A>G rs750728042 0.00001
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=) rs148814769 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001352514.2(HLCS):c.1863G>A (p.Val621=) rs762642801 0.00001
NM_001352514.2(HLCS):c.1893-9C>G rs761781683 0.00001
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=) rs1369860703 0.00001
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741 0.00001
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076 0.00001
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys) rs1035549573 0.00001
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=) rs945618984 0.00001
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=) rs556886743 0.00001
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile) rs1460453809 0.00001
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135 0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser) rs119103230 0.00001
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=) rs764487201 0.00001
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys) rs1464046978 0.00001
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser) rs1285498636 0.00001
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln) rs1376040224 0.00001
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val) rs763760775 0.00001
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=) rs367725468 0.00001
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs) rs760372711 0.00001
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val) rs748447457 0.00001
NM_001352514.2(HLCS):c.2418C>G (p.Val806=) rs759416272 0.00001
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile) rs144116568 0.00001
NM_001352514.2(HLCS):c.2451-1G>A rs1158898827 0.00001
NM_001352514.2(HLCS):c.2463C>A (p.Val821=) rs779439814 0.00001
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr) rs1417729542 0.00001
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter) rs1466111134 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=) rs745670538 0.00001
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=) rs372467001 0.00001
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449 0.00001
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273 0.00001
NM_001352514.2(HLCS):c.456C>A (p.Leu152=) rs778232930 0.00001
NM_001352514.2(HLCS):c.494-8T>A rs778287214 0.00001
NM_001352514.2(HLCS):c.498G>A (p.Val166=) rs2066944593 0.00001
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758 0.00001
NM_001352514.2(HLCS):c.513C>T (p.Ser171=) rs755797089 0.00001
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu) rs759396333 0.00001
NM_001352514.2(HLCS):c.540C>T (p.Val180=) rs574644351 0.00001
NM_001352514.2(HLCS):c.570G>A (p.Pro190=) rs780666266 0.00001
NM_001352514.2(HLCS):c.585T>C (p.Ser195=) rs1379810424 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.621T>C (p.His207=) rs1323740370 0.00001
NM_001352514.2(HLCS):c.681C>T (p.Ala227=) rs768745299 0.00001
NM_001352514.2(HLCS):c.696T>C (p.Pro232=) rs200877859 0.00001
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs) rs1284747916 0.00001
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077 0.00001
NM_001352514.2(HLCS):c.744C>G (p.Leu248=) rs764416032 0.00001
NM_001352514.2(HLCS):c.762C>T (p.His254=) rs775946159 0.00001
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val) rs1342427477 0.00001
NM_001352514.2(HLCS):c.810G>A (p.Ala270=) rs747702795 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001352514.2(HLCS):c.861G>A (p.Glu287=) rs1410993144 0.00001
NM_001352514.2(HLCS):c.969C>T (p.Leu323=) rs1458636068 0.00001
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser) rs574778377 0.00001
NM_001352514.2(HLCS):c.981C>T (p.His327=) rs773664058 0.00001
NM_001352514.2(HLCS):c.996G>A (p.Val332=) rs745472061 0.00001
NM_001370658.1(BTD):c.*57T>A rs886058118 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.-17+7A>C rs1453269936 0.00001
NM_001370658.1(BTD):c.-22G>A rs781354864 0.00001
NM_001370658.1(BTD):c.-59T>A rs768258310 0.00001
NM_001370658.1(BTD):c.-74G>A rs200884349 0.00001
NM_001370658.1(BTD):c.1013A>G (p.His338Arg) rs1379845261 0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg) rs775369290 0.00001
NM_001370658.1(BTD):c.1092C>T (p.Thr364=) rs753278397 0.00001
NM_001370658.1(BTD):c.1101C>T (p.Asn367=) rs756863026 0.00001
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909 0.00001
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp) rs147188293 0.00001
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405 0.00001
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro) rs397514406 0.00001
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser) rs777799585 0.00001
NM_001370658.1(BTD):c.1161T>C (p.Pro387=) rs749528636 0.00001
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile) rs397514409 0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser) rs397514410 0.00001
NM_001370658.1(BTD):c.1200T>C (p.Asn400=) rs2065658628 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1236C>A (p.Thr412=) rs1575030932 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170 0.00001
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val) rs397514402 0.00001
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419 0.00001
NM_001370658.1(BTD):c.1324del (p.Arg442fs) rs397514420 0.00001
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys) rs746099217 0.00001
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val) rs1223614917 0.00001
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164 0.00001
NM_001370658.1(BTD):c.1377G>A (p.Thr459=) rs535292517 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101 0.00001
NM_001370658.1(BTD):c.1446A>G (p.Ser482=) rs1323842252 0.00001
NM_001370658.1(BTD):c.1470C>T (p.Asp490=) rs1301007653 0.00001
NM_001370658.1(BTD):c.1473G>C (p.Gln491His) rs764375610 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.1553G>A (p.Arg518His) rs397514429 0.00001
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.249+15C>T rs760435212 0.00001
NM_001370658.1(BTD):c.249+1G>T rs373249212 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.255A>C (p.Val85=) rs369304137 0.00001
NM_001370658.1(BTD):c.265G>C (p.Val89Leu) rs372416959 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter) rs1306944669 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366 0.00001
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu) rs767750851 0.00001
NM_001370658.1(BTD):c.600A>G (p.Ala200=) rs757071809 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.669C>T (p.Phe223=) rs774761127 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001370658.1(BTD):c.729G>A (p.Val243=) rs777470168 0.00001
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387 0.00001
NM_001370658.1(BTD):c.789G>A (p.Glu263=) rs2065643507 0.00001
NM_001370658.1(BTD):c.843C>A (p.Val281=) rs1344958210 0.00001
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp) rs377651057 0.00001
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu) rs1449860088 0.00001
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly) rs747059644 0.00001
NM_001370658.1(BTD):c.941_942del (p.Ile314fs) rs749162799 0.00001
NM_001370658.1(BTD):c.944C>T (p.Ala315Val) rs1465883743 0.00001
NM_001609.4(ACADSB):c.*1942C>T rs886046794 0.00001
NM_001609.4(ACADSB):c.*4177G>A rs886046806 0.00001
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr) rs200548567 0.00001
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu) rs748042148 0.00001
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763 0.00001
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val) rs770827167 0.00001
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189 0.00001
NM_001609.4(ACADSB):c.1228G>A (p.Gly410Ser) rs387906409 0.00001
NM_001609.4(ACADSB):c.1229-15T>G rs371377486 0.00001
NM_001609.4(ACADSB):c.1233G>A (p.Thr411=) rs755167353 0.00001
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593 0.00001
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr) rs1164586012 0.00001
NM_001609.4(ACADSB):c.219G>A (p.Gln73=) rs756256851 0.00001
NM_001609.4(ACADSB):c.265A>G (p.Met89Val) rs372537859 0.00001
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter) rs760791287 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001609.4(ACADSB):c.426G>A (p.Gln142=) rs748754507 0.00001
NM_001609.4(ACADSB):c.511-6A>G rs773071242 0.00001
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly) rs1343737959 0.00001
NM_001609.4(ACADSB):c.555A>G (p.Ser185=) rs762414612 0.00001
NM_001609.4(ACADSB):c.655G>A (p.Val219Met) rs553730391 0.00001
NM_001609.4(ACADSB):c.669A>G (p.Val223=) rs750818948 0.00001
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr) rs755158007 0.00001
NM_001609.4(ACADSB):c.681+14C>T rs748185849 0.00001
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys) rs1266747835 0.00001
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr) rs770456976 0.00001
NM_001609.4(ACADSB):c.95T>A (p.Val32Asp) rs751722805 0.00001
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys) rs772918339 0.00001
NM_001698.3(AUH):c.222G>A (p.Glu74=) rs1587943178 0.00001
NM_001698.3(AUH):c.25C>G (p.Pro9Ala) rs1461159226 0.00001
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NM_001698.3(AUH):c.305C>T (p.Ser102Leu) rs368115216 0.00001
NM_001698.3(AUH):c.323T>C (p.Ile108Thr) rs531669666 0.00001
NM_001698.3(AUH):c.331-8C>T rs758271092 0.00001
NM_001698.3(AUH):c.476C>G (p.Ser159Cys) rs1282582845 0.00001
NM_001698.3(AUH):c.547G>A (p.Ala183Thr) rs548411527 0.00001
NM_001698.3(AUH):c.56G>T (p.Gly19Val) rs1832891431 0.00001
NM_001698.3(AUH):c.655+3A>C rs755914350 0.00001
NM_001698.3(AUH):c.656-2del rs780964098 0.00001
NM_001698.3(AUH):c.769G>A (p.Val257Ile) rs749920943 0.00001
NM_001698.3(AUH):c.797C>T (p.Ala266Val) rs570875104 0.00001
NM_001698.3(AUH):c.798G>A (p.Ala266=) rs760509061 0.00001
NM_001698.3(AUH):c.84G>T (p.Ala28=) rs1057515676 0.00001
NM_001698.3(AUH):c.860G>C (p.Arg287Thr) rs1826877739 0.00001
NM_001698.3(AUH):c.864G>A (p.Val288=) rs199569104 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001698.3(AUH):c.898G>A (p.Asp300Asn) rs746215620 0.00001
NM_002225.3(IVD):c.-315C>G rs886051126 0.00001
NM_002225.5(IVD):c.*1090A>G rs1257277262 0.00001
NM_002225.5(IVD):c.*1117G>A rs886051132 0.00001
NM_002225.5(IVD):c.*1636G>A rs560135738 0.00001
NM_002225.5(IVD):c.*196G>A rs1417892978 0.00001
NM_002225.5(IVD):c.*2005G>A rs886051135 0.00001
NM_002225.5(IVD):c.*204T>G rs886051127 0.00001
NM_002225.5(IVD):c.*652C>T rs761306144 0.00001
NM_002225.5(IVD):c.*798A>G rs1278287842 0.00001
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445 0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1014G>A (p.Gln338=) rs1891648588 0.00001
NM_002225.5(IVD):c.1026T>C (p.Asn342=) rs1401482066 0.00001
NM_002225.5(IVD):c.1053T>C (p.His351=) rs763091729 0.00001
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter) rs368705240 0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862 0.00001
NM_002225.5(IVD):c.1138+1G>A rs1193235415 0.00001
NM_002225.5(IVD):c.1139-3C>G rs367891946 0.00001
NM_002225.5(IVD):c.1146T>C (p.Asn382=) rs1419468231 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1185A>G (p.Arg395=) rs375709475 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002225.5(IVD):c.1206del (p.Ile402fs) rs1595797766 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 0.00001
NM_002225.5(IVD):c.145-5A>G rs746358275 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.202A>G (p.Ile68Val) rs758926864 0.00001
NM_002225.5(IVD):c.204C>T (p.Ile68=) rs780579571 0.00001
NM_002225.5(IVD):c.227A>G (p.Asn76Ser) rs1398705262 0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516 0.00001
NM_002225.5(IVD):c.235-8G>A rs1035492488 0.00001
NM_002225.5(IVD):c.252G>A (p.Leu84=) rs756466515 0.00001
NM_002225.5(IVD):c.263G>A (p.Gly88Asp) rs779579351 0.00001
NM_002225.5(IVD):c.27G>T (p.Gly9=) rs760413553 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002225.5(IVD):c.297C>T (p.Gly99=) rs377129112 0.00001
NM_002225.5(IVD):c.307C>G (p.Leu103Val) rs1465206137 0.00001
NM_002225.5(IVD):c.330G>A (p.Leu110=) rs746017260 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.372C>T (p.Leu124=) rs964820890 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950 0.00001
NM_002225.5(IVD):c.453G>A (p.Pro151=) rs535261722 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.457-9T>C rs1418302146 0.00001
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461 0.00001
NM_002225.5(IVD):c.474C>T (p.Tyr158=) rs1033930341 0.00001
NM_002225.5(IVD):c.477C>T (p.Ile159=) rs758187120 0.00001
NM_002225.5(IVD):c.486G>A (p.Leu162=) rs755094829 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val) rs559732306 0.00001
NM_002225.5(IVD):c.57G>A (p.Pro19=) rs1277276427 0.00001
NM_002225.5(IVD):c.666C>T (p.Ile222=) rs772662373 0.00001
NM_002225.5(IVD):c.675C>T (p.Phe225=) rs749242305 0.00001
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552 0.00001
NM_002225.5(IVD):c.710C>T (p.Ser237Phe) rs1891244554 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.759A>T (p.Leu253=) rs1237759561 0.00001
NM_002225.5(IVD):c.784+12C>T rs572858305 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.785-4G>A rs369133260 0.00001
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00001
NM_002225.5(IVD):c.798G>C (p.Leu266=) rs1263112437 0.00001
NM_002225.5(IVD):c.803A>G (p.His268Arg) rs201778625 0.00001
NM_002225.5(IVD):c.81G>A (p.Gln27=) rs898534021 0.00001
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399 0.00001
NM_002225.5(IVD):c.833G>C (p.Ser278Thr) rs746615207 0.00001
NM_002225.5(IVD):c.864C>T (p.Ala288=) rs1566939786 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750 0.00001
NM_002225.5(IVD):c.960+7C>T rs113361784 0.00001
NM_002225.5(IVD):c.972G>A (p.Gly324=) rs748522492 0.00001
NM_002225.5(IVD):c.994C>T (p.Arg332Cys) rs1891643589 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 0.00001
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys) rs1446995315 0.00001
NM_005050.4(ABCD4):c.1028+17C>T rs1290816055 0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys) rs201100662 0.00001
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=) rs546298874 0.00001
NM_005050.4(ABCD4):c.12G>C (p.Ala4=) rs754280972 0.00001
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=) rs201586690 0.00001
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg) rs759539743 0.00001
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=) rs760206135 0.00001
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=) rs780349078 0.00001
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg) rs1360319567 0.00001
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=) rs747273884 0.00001
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=) rs555792734 0.00001
NM_005050.4(ABCD4):c.158-7C>A rs557930358 0.00001
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile) rs780846855 0.00001
NM_005050.4(ABCD4):c.166G>A (p.Val56Met) rs2083804334 0.00001
NM_005050.4(ABCD4):c.1752+2T>C rs151116417 0.00001
NM_005050.4(ABCD4):c.1753-18G>A rs772567988 0.00001
NM_005050.4(ABCD4):c.1753-4G>A rs554458015 0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys) rs773609274 0.00001
NM_005050.4(ABCD4):c.285+19T>C rs369159114 0.00001
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr) rs371774856 0.00001
NM_005050.4(ABCD4):c.360C>T (p.His120=) rs1050702853 0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His) rs1349388678 0.00001
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys) rs776529140 0.00001
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp) rs373322009 0.00001
NM_005050.4(ABCD4):c.542+1G>T rs769364566 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005050.4(ABCD4):c.594C>T (p.Thr198=) rs202070697 0.00001
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg) rs1280841182 0.00001
NM_005050.4(ABCD4):c.669-7C>T rs371152472 0.00001
NM_005050.4(ABCD4):c.6G>A (p.Ala2=) rs1486429349 0.00001
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr) rs761053363 0.00001
NM_005050.4(ABCD4):c.9C>G (p.Val3=) rs72542410 0.00001
NM_005334.3(HCFC1):c.1085-15T>C rs782302951 0.00001
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=) rs1557116370 0.00001
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala) rs781937365 0.00001
NM_005334.3(HCFC1):c.138G>C (p.Val46=) rs782634164 0.00001
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=) rs782186278 0.00001
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850 0.00001
NM_005334.3(HCFC1):c.2029-17C>T rs1184396495 0.00001
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=) rs1322440288 0.00001
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422 0.00001
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=) rs782276292 0.00001
NM_005334.3(HCFC1):c.2475C>T (p.His825=) rs782533163 0.00001
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=) rs1557115062 0.00001
NM_005334.3(HCFC1):c.2636-16G>T rs782607911 0.00001
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280 0.00001
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val) rs781971515 0.00001
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452 0.00001
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589 0.00001
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr) rs782235304 0.00001
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) rs1043389387 0.00001
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=) rs782676033 0.00001
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011 0.00001
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) rs1557113936 0.00001
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg) rs781875988 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656 0.00001
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=) rs946537625 0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048 0.00001
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=) rs782136932 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) rs371594842 0.00001
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459 0.00001
NM_005334.3(HCFC1):c.4333+11G>T rs1557113474 0.00001
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) rs782122807 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) rs1272514582 0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) rs1557112927 0.00001
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) rs372010656 0.00001
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196 0.00001
NM_005334.3(HCFC1):c.4942+9C>T rs782480118 0.00001
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=) rs372903122 0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448 0.00001
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) rs1557112412 0.00001
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805 0.00001
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) rs2065298662 0.00001
NM_005334.3(HCFC1):c.6069-16T>C rs1184614214 0.00001
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=) rs1242952055 0.00001
NM_005334.3(HCFC1):c.648C>G (p.Ser216=) rs1557117476 0.00001
NM_005334.3(HCFC1):c.684G>A (p.Arg228=) rs781873669 0.00001
NM_005334.3(HCFC1):c.753G>A (p.Ala251=) rs1557117195 0.00001
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508 0.00001
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile) rs142607404 0.00001
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val) rs1370340054 0.00001
NM_014362.4(HIBCH):c.153A>G (p.Leu51=) rs768948062 0.00001
NM_014362.4(HIBCH):c.196C>A (p.Arg66=) rs757976755 0.00001
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) rs757976755 0.00001
NM_014362.4(HIBCH):c.220-9T>G rs786200864 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys) rs754178179 0.00001
NM_014362.4(HIBCH):c.517+1G>A rs1021805910 0.00001
NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter) rs1248460683 0.00001
NM_014362.4(HIBCH):c.79-3C>G rs778922921 0.00001
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr) rs1280144449 0.00001
NM_014362.4(HIBCH):c.891+1G>A rs915412371 0.00001
NM_014362.4(HIBCH):c.892-18A>C rs113980003 0.00001
NM_014362.4(HIBCH):c.897T>C (p.Ile299=) rs763947247 0.00001
NM_014384.3(ACAD8):c.*351C>G rs561907589 0.00001
NM_014384.3(ACAD8):c.1000C>T (p.Arg334Cys) rs778823613 0.00001
NM_014384.3(ACAD8):c.1092C>T (p.Ala364=) rs146813391 0.00001
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr) rs767613745 0.00001
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val) rs1330918776 0.00001
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser) rs773472208 0.00001
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro) rs773978651 0.00001
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr) rs767041100 0.00001
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg) rs763906092 0.00001
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser) rs1939586683 0.00001
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr) rs751633406 0.00001
NM_014384.3(ACAD8):c.380+7G>A rs1335335796 0.00001
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr) rs988461205 0.00001
NM_014384.3(ACAD8):c.525C>T (p.Ser175=) rs142343253 0.00001
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly) rs1288285713 0.00001
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg) rs367999938 0.00001
NM_014384.3(ACAD8):c.558T>C (p.Asn186=) rs886048025 0.00001
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr) rs1939759468 0.00001
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val) rs151125742 0.00001
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala) rs748422726 0.00001
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val) rs780609527 0.00001
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val) rs142790411 0.00001
NM_014384.3(ACAD8):c.842-15G>A rs778257880 0.00001
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe) rs770663870 0.00001
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp) rs1278727402 0.00001
NM_014384.3(ACAD8):c.948A>G (p.Gln316=) rs148005336 0.00001
NM_014384.3(ACAD8):c.964A>G (p.Met322Val) rs1167657404 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln) rs752153225 0.00001
NM_014384.3(ACAD8):c.99C>T (p.Ser33=) rs886048021 0.00001
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322 0.00001
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp) rs780981680 0.00001
NM_015506.3(MMACHC):c.159C>T (p.Leu53=) rs371927733 0.00001
NM_015506.3(MMACHC):c.180C>T (p.Asp60=) rs535215325 0.00001
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.213C>T (p.His71=) rs746112343 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile) rs772225967 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.258T>C (p.His86=) rs1005452717 0.00001
NM_015506.3(MMACHC):c.276+10G>A rs1229858789 0.00001
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys) rs187869948 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala) rs1010232462 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368 0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) rs374086070 0.00001
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045 0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996 0.00001
NM_015506.3(MMACHC):c.423G>A (p.Gly141=) rs1035201847 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser) rs1553162901 0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470 0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015 0.00001
NM_015506.3(MMACHC):c.48A>G (p.Leu16=) rs1366120426 0.00001
NM_015506.3(MMACHC):c.520C>T (p.Leu174=) rs1298700969 0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.570C>T (p.Ile190=) rs769162698 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015506.3(MMACHC):c.636G>A (p.Gln212=) rs774357624 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391 0.00001
NM_015506.3(MMACHC):c.726G>A (p.Lys242=) rs750002717 0.00001
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=) rs755881820 0.00001
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802 0.00001
NM_015506.3(MMACHC):c.771C>G (p.Pro257=) rs376037114 0.00001
NM_015506.3(MMACHC):c.792C>T (p.Ser264=) rs1458150108 0.00001
NM_015506.3(MMACHC):c.804C>T (p.Ser268=) rs941778714 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_015506.3(MMACHC):c.828A>G (p.Pro276=) rs1288893138 0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556 0.00001
NM_015702.3(MMADHC):c.10-1G>C rs1573880177 0.00001
NM_015702.3(MMADHC):c.117G>A (p.Ser39=) rs1448387303 0.00001
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) rs775175927 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_015702.3(MMADHC):c.155-3C>T rs773403678 0.00001
NM_015702.3(MMADHC):c.237T>C (p.Gly79=) rs763521620 0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) rs760590651 0.00001
NM_015702.3(MMADHC):c.372+1G>A rs755561981 0.00001
NM_015702.3(MMADHC):c.372+7T>C rs368516017 0.00001
NM_015702.3(MMADHC):c.373-16T>C rs754844727 0.00001
NM_015702.3(MMADHC):c.373-8C>A rs766361763 0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) rs1345924349 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.432C>G (p.Ala144=) rs1478523517 0.00001
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) rs780889876 0.00001
NM_015702.3(MMADHC):c.466T>C (p.Leu156=) rs778778537 0.00001
NM_015702.3(MMADHC):c.561T>G (p.Thr187=) rs1282238457 0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) rs757784250 0.00001
NM_015702.3(MMADHC):c.624T>C (p.Ala208=) rs1485998377 0.00001
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=) rs1427942673 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015702.3(MMADHC):c.765T>C (p.Ser255=) rs376860199 0.00001
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) rs766017009 0.00001
NM_015702.3(MMADHC):c.828A>G (p.Val276=) rs937318527 0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562 0.00001
NM_015702.3(MMADHC):c.9+12A>C rs570608507 0.00001
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=) rs558926049 0.00001
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter) rs1380343985 0.00001
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln) rs772350306 0.00001
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692 0.00001
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847 0.00001
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys) rs1364347331 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys) rs781535724 0.00001
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=) rs1382933312 0.00001
NM_018368.4(LMBRD1):c.1417+9A>G rs763882735 0.00001
NM_018368.4(LMBRD1):c.1418-20T>A rs758519179 0.00001
NM_018368.4(LMBRD1):c.1510-19G>A rs1484305691 0.00001
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=) rs771408766 0.00001
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys) rs982934588 0.00001
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val) rs765308443 0.00001
NM_018368.4(LMBRD1):c.247-4C>T rs1321930777 0.00001
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.562+1G>A rs372279393 0.00001
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe) rs1562105981 0.00001
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro) rs1766557026 0.00001
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala) rs1297619412 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr) rs752377027 0.00001
NM_020166.5(MCCC1):c.*90G>A rs894828851 0.00001
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=) rs773895702 0.00001
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) rs965802215 0.00001
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter) rs367625370 0.00001
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=) rs746900508 0.00001
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile) rs1714102747 0.00001
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) rs1333357031 0.00001
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=) rs777766730 0.00001
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=) rs781302711 0.00001
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165 0.00001
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) rs946293038 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1268-1G>A rs1191868168 0.00001
NM_020166.5(MCCC1):c.1268-7A>G rs1417892958 0.00001
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=) rs779316162 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile) rs1410294013 0.00001
NM_020166.5(MCCC1):c.135A>T (p.Thr45=) rs1286585591 0.00001
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) rs369847846 0.00001
NM_020166.5(MCCC1):c.1377+18G>A rs1373677740 0.00001
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=) rs780740389 0.00001
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) rs727504003 0.00001
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) rs746494126 0.00001
NM_020166.5(MCCC1):c.1594+6G>C rs777825199 0.00001
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001 0.00001
NM_020166.5(MCCC1):c.1681+2T>C rs1333994006 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser) rs112307657 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644 0.00001
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=) rs769042107 0.00001
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.183C>T (p.Ala61=) rs756447790 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=) rs1382492613 0.00001
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751 0.00001
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg) rs755699519 0.00001
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) rs903196916 0.00001
NM_020166.5(MCCC1):c.2049+10T>C rs1233685852 0.00001
NM_020166.5(MCCC1):c.2082A>G (p.Val694=) rs765720892 0.00001
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041 0.00001
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) rs750133436 0.00001
NM_020166.5(MCCC1):c.2136C>T (p.Val712=) rs984881958 0.00001
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=) rs781286566 0.00001
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207 0.00001
NM_020166.5(MCCC1):c.263A>G (p.His88Arg) rs1352224093 0.00001
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr) rs1453501166 0.00001
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val) rs772547872 0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) rs1163620394 0.00001
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg) rs746430473 0.00001
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850 0.00001
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val) rs754963220 0.00001
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) rs780072787 0.00001
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn) rs1055095015 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.492-6C>T rs746685018 0.00001
NM_020166.5(MCCC1):c.492-7T>C rs768336115 0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) rs748201122 0.00001
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val) rs1198116993 0.00001
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile) rs149268368 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.6G>A (p.Ala2=) rs768348047 0.00001
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn) rs1716633366 0.00001
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys) rs952738286 0.00001
NM_020166.5(MCCC1):c.762G>A (p.Arg254=) rs149389595 0.00001
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) rs767642062 0.00001
NM_020166.5(MCCC1):c.804del (p.Val269fs) rs1307113234 0.00001
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251 0.00001
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 0.00001
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) rs974953181 0.00001
NM_020166.5(MCCC1):c.89+1G>C rs771730236 0.00001
NM_020166.5(MCCC1):c.89+20C>T rs749164963 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_022132.5(MCCC2):c.*1144A>G rs886060747 0.00001
NM_022132.5(MCCC2):c.*6A>G rs1249235767 0.00001
NM_022132.5(MCCC2):c.*719A>G rs986206032 0.00001
NM_022132.5(MCCC2):c.*839T>C rs886060743 0.00001
NM_022132.5(MCCC2):c.*878T>G rs886060745 0.00001
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487 0.00001
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg) rs759809368 0.00001
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg) rs765438239 0.00001
NM_022132.5(MCCC2):c.105G>A (p.Pro35=) rs1365918358 0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) rs751393852 0.00001
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=) rs1394757971 0.00001
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile) rs760363054 0.00001
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser) rs1427630056 0.00001
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro) rs750782118 0.00001
NM_022132.5(MCCC2):c.1216+10T>C rs777129152 0.00001
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=) rs375010821 0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) rs758506791 0.00001
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn) rs779770835 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1374-19C>A rs761903116 0.00001
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val) rs1747390697 0.00001
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys) rs778734586 0.00001
NM_022132.5(MCCC2):c.13C>T (p.Leu5=) rs954414863 0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) rs780304038 0.00001
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg) rs769558016 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=) rs1345577961 0.00001
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp) rs531891095 0.00001
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=) rs201279542 0.00001
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile) rs756664143 0.00001
NM_022132.5(MCCC2):c.1488+9C>T rs1561848361 0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) rs745367639 0.00001
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=) rs1747468314 0.00001
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=) rs146674014 0.00001
NM_022132.5(MCCC2):c.1574+5G>A rs781483923 0.00001
NM_022132.5(MCCC2):c.1574+7G>T rs766044711 0.00001
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp) rs766384881 0.00001
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe) rs753443203 0.00001
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446 0.00001
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=) rs749529082 0.00001
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr) rs373922744 0.00001
NM_022132.5(MCCC2):c.196+20C>T rs766988420 0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter) rs1304896406 0.00001
NM_022132.5(MCCC2):c.258A>G (p.Arg86=) rs550220664 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe) rs748028684 0.00001
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val) rs771719423 0.00001
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys) rs1450884624 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.336G>A (p.Glu112=) rs1325018619 0.00001
NM_022132.5(MCCC2):c.383+17T>C rs1745350073 0.00001
NM_022132.5(MCCC2):c.383+2del rs1745349463 0.00001
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile) rs1214498152 0.00001
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229 0.00001
NM_022132.5(MCCC2):c.456A>G (p.Lys152=) rs1409261895 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009 0.00001
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys) rs944412136 0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys) rs1580281124 0.00001
NM_022132.5(MCCC2):c.51C>G (p.Pro17=) rs1390205513 0.00001
NM_022132.5(MCCC2):c.549T>C (p.Asp183=) rs1400921456 0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) rs774180632 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147 0.00001
NM_022132.5(MCCC2):c.624+13G>T rs376190037 0.00001
NM_022132.5(MCCC2):c.625-17G>A rs771274447 0.00001
NM_022132.5(MCCC2):c.627C>T (p.Ile209=) rs777033953 0.00001
NM_022132.5(MCCC2):c.651C>T (p.Thr217=) rs1380948898 0.00001
NM_022132.5(MCCC2):c.657A>C (p.Gly219=) rs1350958601 0.00001
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697 0.00001
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298 0.00001
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe) rs531567604 0.00001
NM_022132.5(MCCC2):c.736T>C (p.Leu246=) rs1303225809 0.00001
NM_022132.5(MCCC2):c.739-7G>T rs765082065 0.00001
NM_022132.5(MCCC2):c.753T>C (p.Thr251=) rs3736398 0.00001
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663 0.00001
NM_022132.5(MCCC2):c.804-10T>C rs1295275733 0.00001
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro) rs376237028 0.00001
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser) rs1368817393 0.00001
NM_022132.5(MCCC2):c.903+8C>T rs1348079727 0.00001
NM_022132.5(MCCC2):c.904-4G>T rs758885126 0.00001
NM_022132.5(MCCC2):c.904-5T>A rs753258629 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_025136.4(OPA3):c.*1063G>A rs1384983234 0.00001
NM_025136.4(OPA3):c.*1193A>G rs1969345485 0.00001
NM_025136.4(OPA3):c.*1496C>T rs938973035 0.00001
NM_025136.4(OPA3):c.*1799A>G rs886054530 0.00001
NM_025136.4(OPA3):c.*2041C>G rs1200054696 0.00001
NM_025136.4(OPA3):c.*2620C>A rs528208456 0.00001
NM_025136.4(OPA3):c.*322A>G rs886054539 0.00001
NM_025136.4(OPA3):c.*3472G>A rs1305422353 0.00001
NM_025136.4(OPA3):c.*3581C>T rs576070088 0.00001
NM_025136.4(OPA3):c.*4464G>T rs886054522 0.00001
NM_025136.4(OPA3):c.*4763C>A rs549495140 0.00001
NM_025136.4(OPA3):c.*4919_*4921del rs886054514 0.00001
NM_025136.4(OPA3):c.*5888C>T rs886054508 0.00001
NM_025136.4(OPA3):c.*6046G>A rs1010630541 0.00001
NM_025136.4(OPA3):c.*6461C>T rs886054505 0.00001
NM_025136.4(OPA3):c.*6773G>T rs886054504 0.00001
NM_025136.4(OPA3):c.*7072A>T rs1247746346 0.00001
NM_025136.4(OPA3):c.*7183G>A rs941194280 0.00001
NM_025136.4(OPA3):c.120T>C (p.Tyr40=) rs752657560 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025136.4(OPA3):c.142+10A>T rs539476253 0.00001
NM_025136.4(OPA3):c.143-6C>T rs760030315 0.00001
NM_025136.4(OPA3):c.143-9C>G rs1342185871 0.00001
NM_025136.4(OPA3):c.197C>T (p.Thr66Met) rs753129998 0.00001
NM_025136.4(OPA3):c.222G>A (p.Glu74=) rs1241138154 0.00001
NM_025136.4(OPA3):c.224C>T (p.Ala75Val) rs769541845 0.00001
NM_025136.4(OPA3):c.237G>C (p.Leu79=) rs943536843 0.00001
NM_025136.4(OPA3):c.252G>A (p.Leu84=) rs757297634 0.00001
NM_025136.4(OPA3):c.255C>T (p.Gly85=) rs951025429 0.00001
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln) rs1599964564 0.00001
NM_025136.4(OPA3):c.354C>T (p.Ala118=) rs745763712 0.00001
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg) rs375471439 0.00001
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp) rs1022155897 0.00001
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys) rs1346674058 0.00001
NM_025136.4(OPA3):c.381C>T (p.Gly127=) rs1405668670 0.00001
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly) rs372640359 0.00001
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg) rs1399150102 0.00001
NM_025136.4(OPA3):c.426G>A (p.Ala142=) rs1289276507 0.00001
NM_025136.4(OPA3):c.441C>G (p.Gly147=) rs1049255184 0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853 0.00001
NM_025136.4(OPA3):c.453A>G (p.Glu151=) rs1338422249 0.00001
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg) rs1364874488 0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr) rs374639297 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr) rs774281852 0.00001
NM_025136.4(OPA3):c.78T>C (p.Arg26=) rs1372988634 0.00001
NM_025136.4(OPA3):c.87G>A (p.Glu29=) rs1194417590 0.00001
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser) rs753632531 0.00001
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg) rs749611577 0.00001
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter) rs780554501 0.00001
NM_032861.4(SERAC1):c.1016-5A>G rs1321114507 0.00001
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) rs758745099 0.00001
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531 0.00001
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg) rs779061767 0.00001
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met) rs780982964 0.00001
NM_032861.4(SERAC1):c.1403+5C>G rs770722498 0.00001
NM_032861.4(SERAC1):c.1501+6T>G rs760987565 0.00001
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe) rs751450632 0.00001
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala) rs201367107 0.00001
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=) rs1219406942 0.00001
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=) rs1398045297 0.00001
NM_032861.4(SERAC1):c.1685-12A>G rs1327940001 0.00001
NM_032861.4(SERAC1):c.1685-3C>T rs367733861 0.00001
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu) rs1478893955 0.00001
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met) rs756012789 0.00001
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) rs1020569740 0.00001
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys) rs575982148 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_032861.4(SERAC1):c.285A>G (p.Arg95=) rs752918334 0.00001
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu) rs1258024323 0.00001
NM_032861.4(SERAC1):c.387T>C (p.His129=) rs781658698 0.00001
NM_032861.4(SERAC1):c.487+12A>G rs531094036 0.00001
NM_032861.4(SERAC1):c.525G>A (p.Pro175=) rs774652383 0.00001
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe) rs1243289662 0.00001
NM_032861.4(SERAC1):c.738+7T>C rs1784954711 0.00001
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu) rs1404505029 0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu) rs1455975616 0.00001
NM_052845.3(MMAB):c.-69G>A rs886048928 0.00001
NM_052845.4(MMAB):c.*2913C>T rs901387869 0.00001
NM_052845.4(MMAB):c.*716C>T rs886048921 0.00001
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp) rs1466525448 0.00001
NM_052845.4(MMAB):c.135-4T>C rs1025409144 0.00001
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala) rs759809454 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu) rs571555515 0.00001
NM_052845.4(MMAB):c.254C>T (p.Ala85Val) rs770743560 0.00001
NM_052845.4(MMAB):c.255C>T (p.Ala85=) rs894225131 0.00001
NM_052845.4(MMAB):c.348+10_348+13del rs775340018 0.00001
NM_052845.4(MMAB):c.348+7A>G rs769138883 0.00001
NM_052845.4(MMAB):c.348+9C>T rs747459155 0.00001
NM_052845.4(MMAB):c.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.360A>G (p.Thr120=) rs1393235772 0.00001
NM_052845.4(MMAB):c.369C>T (p.Asp123=) rs1055749855 0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp) rs778169806 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn) rs755568905 0.00001
NM_052845.4(MMAB):c.422-6C>T rs759110803 0.00001
NM_052845.4(MMAB):c.423G>A (p.Lys141=) rs1474862262 0.00001
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506 0.00001
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370 0.00001
NM_052845.4(MMAB):c.451C>T (p.Leu151=) rs1884202824 0.00001
NM_052845.4(MMAB):c.456G>A (p.Glu152=) rs1884202411 0.00001
NM_052845.4(MMAB):c.457C>T (p.Leu153=) rs767045171 0.00001
NM_052845.4(MMAB):c.465G>A (p.Gln155=) rs1323701026 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter) rs758790126 0.00001
NM_052845.4(MMAB):c.525A>G (p.Gly175=) rs138069953 0.00001
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573 0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=) rs145411521 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956 0.00001
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) rs763383858 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.644+6C>T rs376868629 0.00001
NM_052845.4(MMAB):c.645-8C>G rs1251570137 0.00001
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu) rs940651669 0.00001
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574 0.00001
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=) rs1400868784 0.00001
NM_145261.4(DNAJC19):c.129+11G>T rs546533068 0.00001
NM_145261.4(DNAJC19):c.130-1G>C rs137854888 0.00001
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser) rs781284254 0.00001
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His) rs1714943164 0.00001
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser) rs754317673 0.00001
NM_145261.4(DNAJC19):c.210-19C>T rs780397593 0.00001
NM_145261.4(DNAJC19):c.280+16A>T rs773185733 0.00001
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val) rs762783413 0.00001
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser) rs200732155 0.00001
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg) rs1253268997 0.00001
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=) rs771098271 0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter) rs1560040369 0.00001
NM_172250.3(MMAA):c.*1819C>G rs983321169 0.00001
NM_172250.3(MMAA):c.*229T>C rs886059092 0.00001
NM_172250.3(MMAA):c.*2378A>G rs886059104 0.00001
NM_172250.3(MMAA):c.*2444C>G rs934446234 0.00001
NM_172250.3(MMAA):c.*2479G>A rs886059107 0.00001
NM_172250.3(MMAA):c.*2627A>G rs886059109 0.00001
NM_172250.3(MMAA):c.*353C>A rs1302018790 0.00001
NM_172250.3(MMAA):c.*4504C>A rs1009787082 0.00001
NM_172250.3(MMAA):c.*540A>T rs886059094 0.00001
NM_172250.3(MMAA):c.*67G>A rs886059090 0.00001
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn) rs756437003 0.00001
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731 0.00001
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980 0.00001
NM_172250.3(MMAA):c.1099A>G (p.Met367Val) rs754474832 0.00001
NM_172250.3(MMAA):c.1137C>T (p.Phe379=) rs1010401774 0.00001
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln) rs191643294 0.00001
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818 0.00001
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664 0.00001
NM_172250.3(MMAA):c.159G>A (p.Lys53=) rs1191388669 0.00001
NM_172250.3(MMAA):c.15A>G (p.Leu5=) rs755914586 0.00001
NM_172250.3(MMAA):c.177T>C (p.Asp59=) rs1727713075 0.00001
NM_172250.3(MMAA):c.258G>A (p.Val86=) rs1240108337 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.313A>G (p.Ile105Val) rs1284134117 0.00001
NM_172250.3(MMAA):c.336C>T (p.His112=) rs771388415 0.00001
NM_172250.3(MMAA):c.33T>C (p.His11=) rs370983676 0.00001
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro) rs760875006 0.00001
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe) rs965827040 0.00001
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln) rs369113922 0.00001
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln) rs200577967 0.00001
NM_172250.3(MMAA):c.440-5C>T rs759611574 0.00001
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser) rs753463116 0.00001
NM_172250.3(MMAA):c.563-9A>G rs1361037765 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572 0.00001
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys) rs1036460255 0.00001
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg) rs889048711 0.00001
NM_172250.3(MMAA):c.702G>A (p.Ala234=) rs781525637 0.00001
NM_172250.3(MMAA):c.721A>G (p.Ile241Val) rs756221585 0.00001
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr) rs371068331 0.00001
NM_172250.3(MMAA):c.733+1G>A rs779939886 0.00001
NM_172250.3(MMAA):c.734-7A>G rs753938949 0.00001
NM_172250.3(MMAA):c.734-8A>G rs778057240 0.00001
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934 0.00001
NM_172250.3(MMAA):c.756T>C (p.Ala252=) rs781124654 0.00001
NM_172250.3(MMAA):c.756del (p.Val253fs) rs1489525542 0.00001
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr) rs769722136 0.00001
NM_172250.3(MMAA):c.763G>C (p.Asp255His) rs1267434098 0.00001
NM_172250.3(MMAA):c.795A>C (p.Pro265=) rs767934772 0.00001
NM_172250.3(MMAA):c.819+10T>A rs1202834297 0.00001
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr) rs1204400776 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_172250.3(MMAA):c.840C>T (p.Ile280=) rs750509072 0.00001
NM_172250.3(MMAA):c.86A>G (p.His29Arg) rs367809749 0.00001
NM_172250.3(MMAA):c.891G>A (p.Val297=) rs1315370286 0.00001
NM_172250.3(MMAA):c.927A>G (p.Ala309=) rs769082931 0.00001
NM_172250.3(MMAA):c.970-7T>C rs770942394 0.00001
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432 0.00001
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
HIBCH, 1-BP DEL, 852A
HIBCH, CYS163PHE
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
NC_000001.10:g.(?_19199339)_(24690861_?)dup
NC_000001.10:g.(?_24128943)_(24129064_?)del
NC_000001.10:g.(?_24128943)_(24131025_?)del
NC_000001.10:g.(?_24137216)_(24140838_?)del
NC_000001.10:g.(?_24137216)_(24151915_?)del
NC_000001.10:g.(?_24140670)_(24140838_?)del
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.10:g.(?_24146990)_(24151915_?)del
NC_000001.10:g.(?_45965995)_(45966095_?)del
NC_000001.10:g.(?_45966005)_(45977106_?)dup
NC_000001.10:g.(?_45974458)_(45974897_?)del
NC_000001.11:g.(?_23825336)_(23825435_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NC_000002.11:g.(?_150438631)_(150438795_?)del
NC_000002.11:g.(?_150443583)_(150443611_?)del
NC_000002.11:g.(?_150443583)_(150443631_?)del
NC_000002.12:g.(?_149569954)_(149587117_?)del
NC_000002.12:g.(?_149569964)_(149587107_?)del
NC_000002.12:g.190246209_190246214del rs1686603593
NC_000003.11:g.(?_135969218)_(135969420_?)dup
NC_000003.11:g.(?_135969218)_(136048868_?)dup
NC_000003.11:g.(?_135974688)_(136003251_?)del
NC_000003.11:g.(?_135980784)_(135980917_?)del
NC_000003.11:g.(?_136002659)_(136002809_?)del
NC_000003.11:g.(?_136002659)_(136016934_?)del
NC_000003.11:g.(?_136002659)_(136035926_?)del
NC_000003.11:g.(?_136012588)_(136035916_?)del
NC_000003.11:g.(?_136016774)_(136016934_?)del
NC_000003.11:g.(?_136019862)_(136019963_?)del
NC_000003.11:g.(?_15512023)_(15687154_?)del
NC_000003.11:g.(?_15643358)_(15643421_?)del
NC_000003.11:g.(?_15643358)_(15643421_?)dup
NC_000003.11:g.(?_15643358)_(15683584_?)del
NC_000003.11:g.(?_15643358)_(15687154_?)dup
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_180332709)_(180707390_?)del
NC_000003.11:g.(?_180707368)_(180707390_?)del
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182733226)_(182817228_?)dup
NC_000003.11:g.(?_182733226)_(184094097_?)del
NC_000003.11:g.(?_182754986)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182775230_?)del
NC_000003.11:g.(?_182756794)_(182763348_?)del
NC_000003.11:g.(?_182769927)_(182817228_?)del
NC_000003.11:g.(?_182790144)_(182817385_?)del
NC_000003.11:g.(?_182810187)_(182812403_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
NC_000003.12:g.(?_136250366)_(136250568_?)del
NC_000003.12:g.(?_136316921)_(136317084_?)del
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000003.12:g.136246220_136254271del
NC_000003.12:g.183057423del
NC_000004.11:g.(?_146560292)_(149358012_?)del
NC_000004.11:g.(?_146575136)_(146576596_?)del
NC_000004.12:g.(?_145639120)_(145642505_?)del
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
NC_000005.9:g.(?_70808992)_(70952687_?)dup
NC_000005.9:g.(?_70892087)_(70892211_?)del
NC_000005.9:g.(?_70892097)_(70892201_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000005.9:g.(?_70895476)_(70900305_?)dup
NC_000005.9:g.(?_70898323)_(70900305_?)del
NC_000005.9:g.(?_70898323)_(70928022_?)del
NC_000005.9:g.(?_70922447)_(70952687_?)del
NC_000005.9:g.(?_70922457)_(70922590_?)del
NC_000005.9:g.(?_70930773)_(70930871_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000006.11:g.(?_158532398)_(162868359_?)del
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NC_000006.11:g.(?_70386050)_(70490466_?)dup
NC_000006.11:g.(?_70386050)_(71012627_?)del
NC_000006.11:g.(?_70459213)_(70462268_?)del
NC_000006.11:g.(?_70490366)_(70506773_?)dup
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NC_000006.12:g.69780555del
NC_000009.11:g.(?_94058283)_(94538120_?)dup
NC_000009.11:g.(?_94118145)_(94118457_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup rs781142774
NC_000010.11:g.(?_123034356)_(123041379_?)del
NC_000011.10:g.(?_108121597)_(108147400_?)del
NC_000011.10:g.(?_108138888)_(108140225_?)del
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NC_000011.9:g.(?_108004537)_(108005053_?)dup
NC_000011.9:g.(?_108005849)_(108005989_?)del
NC_000011.9:g.(?_108006357)_(108009701_?)del
NC_000011.9:g.(?_108009615)_(108009778_?)del
NC_000011.9:g.(?_108009615)_(108018127_?)del
NC_000011.9:g.(?_108010782)_(108012437_?)del
NC_000011.9:g.(?_108016909)_(108017106_?)del
NC_000011.9:g.(?_133778964)_(134134854_?)del
NC_000011.9:g.(?_71146421)_(75283128_?)dup
NC_000011.9:g.(?_72004411)_(72006712_?)del
NC_000011.9:g.(?_72083949)_(72084078_?)del
NC_000011.9:g.(?_72083996)_(72087051_?)del
NC_000011.9:g.(?_72141336)_(72145518_?)dup
NC_000011.9:g.(?_72145096)_(72145518_?)del
NC_000011.9:g.(?_72145398)_(72145517_?)del
NC_000011.9:g.(?_72145398)_(72150823_?)del
NC_000012.11:g.(?_109991510)_(109994951_?)del
NC_000012.11:g.(?_110009444)_(110012715_?)del
NC_000012.11:g.(?_110011228)_(110017709_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
NC_000013.10:g.(?_100038233)_(103718599_?)dup
NC_000013.10:g.(?_100741259)_(100741489_?)del
NC_000013.10:g.(?_100741375)_(101182420_?)del
NC_000013.10:g.(?_100807213)_(100809614_?)dup
NC_000013.10:g.(?_100807223)_(100809604_?)del
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100861576)_(100955262_?)del
NC_000013.10:g.(?_100888086)_(100992523_?)del
NC_000013.10:g.(?_100909829)_(101101579_?)del
NC_000013.10:g.(?_100909839)_(100992523_?)del
NC_000013.10:g.(?_100920933)_(100925610_?)del
NC_000013.10:g.(?_100925430)_(100925620_?)del
NC_000013.10:g.(?_100953694)_(100962182_?)dup
NC_000013.10:g.(?_100953694)_(100992533_?)del
NC_000013.10:g.(?_100953694)_(101078005_?)del
NC_000013.10:g.(?_100953704)_(100962172_?)dup
NC_000013.10:g.(?_100971208)_(100992469_?)del
NC_000013.10:g.(?_100982805)_(101020838_?)dup
NC_000013.10:g.(?_100992391)_(100992533_?)del
NC_000013.10:g.(?_101020716)_(101101569_?)del
NC_000013.10:g.(?_101077867)_(101101579_?)dup
NC_000013.10:g.(?_101077867)_(101182420_?)dup
NC_000013.10:g.(?_101077867)_(101182440_?)dup
NC_000013.10:g.(?_101167661)_(101167841_?)del
NC_000013.10:g.(?_101167671)_(101182701_?)del
NC_000013.10:g.(?_101179909)_(101180026_?)del
NC_000013.10:g.(?_101179909)_(101182420_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000013.11:g.(?_100527655)_(100530186_?)del
NC_000013.11:g.(?_100527665)_(100530447_?)del
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
NC_000014.8:g.(?_74766231)_(74769615_?)del
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NC_000015.9:g.(?_40698010)_(40698182_?)del
NC_000015.9:g.(?_40698010)_(40710472_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NC_000015.9:g.(?_40702817)_(40708571_?)del
NC_000016.10:g.(?_89100662)_(89154227_?)dup
NC_000016.10:g.89100703_89111915del
NC_000016.10:g.89112092del rs750594210
NC_000016.9:g.(?_89160207)_(89203247_?)del
NC_000016.9:g.(?_89160207)_(89212467_?)del
NC_000016.9:g.(?_89164989)_(89222264_?)del
NC_000016.9:g.(?_89167070)_(89180915_?)del
NC_000016.9:g.(?_89167070)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89169187_?)del
NC_000016.9:g.(?_89167090)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89220615_?)del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89178490)_(89199680_?)dup
NC_000016.9:g.(?_89178490)_(89207694_?)del
NC_000016.9:g.(?_89178490)_(89212467_?)dup
NC_000016.9:g.(?_89178490)_(89222264_?)del
NC_000016.9:g.(?_89183388)_(89187331_?)del
NC_000016.9:g.(?_89187199)_(89222264_?)del
NC_000016.9:g.(?_89199534)_(89199680_?)del
NC_000016.9:g.(?_89199534)_(89222264_?)del
NC_000016.9:g.(?_89211655)_(89220615_?)dup
NC_000016.9:g.(?_89220488)_(89222264_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.10:g.39480831G>A rs1600735654
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000021.8:g.(?_38132018)_(38362704_?)del
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38269150)_(38269441_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_012920.1:m.3243A>G rs199474657
NG_008017.1:g.?_(11043_41520)del
NG_013061.1:g.(9952_12876)_(19725_22136)del
NM_000019.3(ACAT1):c.*234_*235delCT rs1295289344
NM_000019.3(ACAT1):c.*467_*470dup rs537463051
NM_000019.3(ACAT1):c.*668G>T rs2077754843
NM_000019.3(ACAT1):c.*675A>C rs886047605
NM_000019.3(ACAT1):c.*703T>C rs188826374
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del
NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del
NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup
NM_000019.4(ACAT1):c.*107dup rs886047598
NM_000019.4(ACAT1):c.*123_*127dup rs556749538
NM_000019.4(ACAT1):c.*55T>C rs886047597
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.-22C>T rs3741054
NM_000019.4(ACAT1):c.1005+11A>C
NM_000019.4(ACAT1):c.1005+11A>T
NM_000019.4(ACAT1):c.1005+19G>A rs1239413602
NM_000019.4(ACAT1):c.1005+19G>T
NM_000019.4(ACAT1):c.1005+1G>A rs2134780623
NM_000019.4(ACAT1):c.1005+20C>T
NM_000019.4(ACAT1):c.1005+20dup
NM_000019.4(ACAT1):c.1005+2T>G
NM_000019.4(ACAT1):c.1006-10A>G rs886047596
NM_000019.4(ACAT1):c.1006-15T>C
NM_000019.4(ACAT1):c.1006-16T>C
NM_000019.4(ACAT1):c.1006-17C>A
NM_000019.4(ACAT1):c.1006-18T>A
NM_000019.4(ACAT1):c.1006-18T>C
NM_000019.4(ACAT1):c.1006-1G>A rs1131691567
NM_000019.4(ACAT1):c.1006-1G>C rs1131691567
NM_000019.4(ACAT1):c.1006-21C>A
NM_000019.4(ACAT1):c.1006-4T>G
NM_000019.4(ACAT1):c.1006-7A>T
NM_000019.4(ACAT1):c.1006-8A>C
NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) rs1591374544
NM_000019.4(ACAT1):c.1016_1018dup (p.Asp339dup) rs1591374552
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
NM_000019.4(ACAT1):c.1020G>A (p.Val340=) rs2077705283
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=)
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=)
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del) rs387906282
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) rs781496140
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr) rs1338023969
NM_000019.4(ACAT1):c.1043del (p.Ala348fs) rs1565297769
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=) rs2134791187
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) rs1367121673
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
NM_000019.4(ACAT1):c.1059T>A (p.Asn353Lys) rs1591374629
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=) 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.1077T>G (p.Val359=)
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) rs387906283
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
NM_000019.4(ACAT1):c.1097dup (p.Met366fs)
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val) rs774524997
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter) rs2134791556
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val) rs1591374695
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter) rs2134791667
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter) rs2134791703
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) rs928429664
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs) rs2134791752
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=) rs751682437
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=) rs2134791835
NM_000019.4(ACAT1):c.1138G>A (p.Ala380Thr) rs120074140
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
NM_000019.4(ACAT1):c.1163+11A>G
NM_000019.4(ACAT1):c.1163+14A>G
NM_000019.4(ACAT1):c.1163+15_1163+17del rs748465398
NM_000019.4(ACAT1):c.1163+16_1163+18del
NM_000019.4(ACAT1):c.1163+18C>T
NM_000019.4(ACAT1):c.1163+19T>G
NM_000019.4(ACAT1):c.1163+20A>C
NM_000019.4(ACAT1):c.1163+20A>G
NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) rs773491386
NM_000019.4(ACAT1):c.1164-11C>T
NM_000019.4(ACAT1):c.1164-17T>C
NM_000019.4(ACAT1):c.1164-4T>C
NM_000019.4(ACAT1):c.1164-4T>G
NM_000019.4(ACAT1):c.1164-7A>C
NM_000019.4(ACAT1):c.1164-8_1164-4dup
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile) rs377295639
NM_000019.4(ACAT1):c.1168T>C (p.Ser390Pro) rs1184088336
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs) rs1565298653
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) rs2077737059
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp) rs746332363
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg) rs2134797745
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
NM_000019.4(ACAT1):c.120+17G>A
NM_000019.4(ACAT1):c.120+1G>A
NM_000019.4(ACAT1):c.120+1G>T rs779908220
NM_000019.4(ACAT1):c.120+20C>G
NM_000019.4(ACAT1):c.120+20C>T
NM_000019.4(ACAT1):c.120+374_731-68delinsTAA
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs) rs1057520091
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=)
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=)
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=)
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
NM_000019.4(ACAT1):c.121-12G>A
NM_000019.4(ACAT1):c.121-13T>A rs1591361903
NM_000019.4(ACAT1):c.121-19C>T
NM_000019.4(ACAT1):c.121-2A>G rs2135334384
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.121-8C>T
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg) rs553101581
NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) rs1591375843
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=) rs1218523313
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=)
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=) rs2077740550
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=) rs2134798301
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp) rs2134798319
NM_000019.4(ACAT1):c.1241_1245delinsGT (p.Asn414_Gly415delinsSer) rs1591375882
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=)
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup) rs2077741217
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
NM_000019.4(ACAT1):c.126G>A (p.Val42=)
NM_000019.4(ACAT1):c.126G>T (p.Val42=) rs2135334412
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr) rs2077742350
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=)
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=) rs201500937
NM_000019.4(ACAT1):c.131T>C (p.Ile44Thr) rs2135334430
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
NM_000019.4(ACAT1):c.134dup (p.Ser46fs) rs1444451434
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val) rs545826042
NM_000019.4(ACAT1):c.149del (p.Thr50fs) rs779565865
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
NM_000019.4(ACAT1):c.174C>T (p.Ser58=) rs147018814
NM_000019.4(ACAT1):c.177T>G (p.Leu59=) rs2135334620
NM_000019.4(ACAT1):c.180C>G (p.Ser60=) rs1246350270
NM_000019.4(ACAT1):c.184_186delinsA (p.Leu62fs)
NM_000019.4(ACAT1):c.189A>C (p.Pro63=)
NM_000019.4(ACAT1):c.18A>G (p.Ala6=)
NM_000019.4(ACAT1):c.192C>T (p.Ala64=) rs2135334679
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
NM_000019.4(ACAT1):c.213A>C (p.Ala71=)
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro) rs779758622
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
NM_000019.4(ACAT1):c.229del (p.Glu77fs) rs2077411287
NM_000019.4(ACAT1):c.233del (p.Lys78fs) rs2135334849
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
NM_000019.4(ACAT1):c.238+11A>G
NM_000019.4(ACAT1):c.238+13T>C
NM_000019.4(ACAT1):c.238+20T>C
NM_000019.4(ACAT1):c.238+20T>G
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.238+2T>C
NM_000019.4(ACAT1):c.238+8G>T rs2135334879
NM_000019.4(ACAT1):c.239-10_239-8del
NM_000019.4(ACAT1):c.239-11_239-8del
NM_000019.4(ACAT1):c.239-13T>G
NM_000019.4(ACAT1):c.239-17_239-16insC
NM_000019.4(ACAT1):c.239-6dup rs2077417137
NM_000019.4(ACAT1):c.239-7A>G rs2077417069
NM_000019.4(ACAT1):c.239-8del rs201199156
NM_000019.4(ACAT1):c.239-9_239-8del rs201199156
NM_000019.4(ACAT1):c.240_241insT (p.Ile81fs)
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.24G>T (p.Leu8=)
NM_000019.4(ACAT1):c.252del (p.Glu85fs) rs2135336077
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu) rs1235436246
NM_000019.4(ACAT1):c.261dup (p.Glu88fs) rs1201662412
NM_000019.4(ACAT1):c.263A>C (p.Glu88Ala) rs1565288701
NM_000019.4(ACAT1):c.264A>G (p.Glu88=) rs1406647087
NM_000019.4(ACAT1):c.267A>C (p.Ala89=) rs1380608828
NM_000019.4(ACAT1):c.272del (p.Met91fs)
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser) rs1591362402
NM_000019.4(ACAT1):c.278A>G (p.Asn93Ser) rs120074145
NM_000019.4(ACAT1):c.27C>T (p.Arg9=) rs1437592865
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000019.4(ACAT1):c.291A>C (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn) rs886047595
NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) rs120074142
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) rs120074142
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys) rs1591362483
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
NM_000019.4(ACAT1):c.303A>G (p.Gln101=)
NM_000019.4(ACAT1):c.312A>G (p.Thr104=) rs2135336378
NM_000019.4(ACAT1):c.315G>A (p.Arg105=)
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter) rs2135336400
NM_000019.4(ACAT1):c.318G>A (p.Gln106=)
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=) rs2135336464
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
NM_000019.4(ACAT1):c.333A>G (p.Ala111=) rs2135336477
NM_000019.4(ACAT1):c.334+16T>C
NM_000019.4(ACAT1):c.334+172C>G rs12226047
NM_000019.4(ACAT1):c.334+18_334+19del
NM_000019.4(ACAT1):c.334+19T>G
NM_000019.4(ACAT1):c.334+1G>A rs1591362533
NM_000019.4(ACAT1):c.334+2T>A
NM_000019.4(ACAT1):c.334+8G>A rs1336705723
NM_000019.4(ACAT1):c.335-12T>C
NM_000019.4(ACAT1):c.335-16C>T
NM_000019.4(ACAT1):c.335-19T>C
NM_000019.4(ACAT1):c.335-20G>A
NM_000019.4(ACAT1):c.335-20G>C
NM_000019.4(ACAT1):c.335-2A>G
NM_000019.4(ACAT1):c.335-3del
NM_000019.4(ACAT1):c.335-4T>G
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) rs1591363674
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=) rs2135341517
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000019.4(ACAT1):c.36C>G (p.Ala12=) rs1333520451
NM_000019.4(ACAT1):c.36C>T (p.Ala12=) rs1333520451
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.372dup (p.Val125fs)
NM_000019.4(ACAT1):c.375T>C (p.Val125=) rs767382364
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs) rs2135341631
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
NM_000019.4(ACAT1):c.395C>G (p.Ala132Gly) rs1591363786
NM_000019.4(ACAT1):c.399C>T (p.Ile133=) rs2135341722
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
NM_000019.4(ACAT1):c.410_418delinsT (p.Ser137fs) rs1591363795
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) rs1591363800
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe) rs2077446791
NM_000019.4(ACAT1):c.419T>G (p.Leu140Arg)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=) rs1436280151
NM_000019.4(ACAT1):c.431A>C (p.His144Pro) rs1025180934
NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)
NM_000019.4(ACAT1):c.435+11C>T
NM_000019.4(ACAT1):c.435+12C>T
NM_000019.4(ACAT1):c.435+13G>A
NM_000019.4(ACAT1):c.435+19C>T
NM_000019.4(ACAT1):c.435+1G>A rs1591363834
NM_000019.4(ACAT1):c.435+20C>T
NM_000019.4(ACAT1):c.435+4A>G rs1424341036
NM_000019.4(ACAT1):c.436-12G>A
NM_000019.4(ACAT1):c.436-13T>C
NM_000019.4(ACAT1):c.436-14G>A
NM_000019.4(ACAT1):c.436-15G>A
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-8C>T rs2135355544
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn) rs2077523952
NM_000019.4(ACAT1):c.446del (p.Val149fs) rs1591367375
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile)
NM_000019.4(ACAT1):c.45C>T (p.Arg15=) rs2135283693
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys) rs1198149157
NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) rs1591367422
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs) rs2135356039
NM_000019.4(ACAT1):c.492C>T (p.Asn164=) rs2135356062
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
NM_000019.4(ACAT1):c.507A>T (p.Pro169=) rs201456540
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)
NM_000019.4(ACAT1):c.513T>C (p.Gly171=) rs1388288534
NM_000019.4(ACAT1):c.51C>A (p.Pro17=)
NM_000019.4(ACAT1):c.51C>G (p.Pro17=) rs765733417
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly)
NM_000019.4(ACAT1):c.52dup (p.Leu18fs) rs1476273214
NM_000019.4(ACAT1):c.531T>C (p.Asp177=)
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe) rs1320114846
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
NM_000019.4(ACAT1):c.537del (p.Ile179fs) rs1415293773
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
NM_000019.4(ACAT1):c.550C>T (p.Leu184=) rs2135356370
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
NM_000019.4(ACAT1):c.556G>T (p.Asp186Tyr) rs1591367592
NM_000019.4(ACAT1):c.571del (p.Ile191fs) rs761038005
NM_000019.4(ACAT1):c.575A>G (p.His192Arg) rs2077528154
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.579+17G>T
NM_000019.4(ACAT1):c.579+2T>A rs112950994
NM_000019.4(ACAT1):c.579+7G>A
NM_000019.4(ACAT1):c.57C>A (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.57C>T (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.580-14C>A
NM_000019.4(ACAT1):c.580-2A>G
NM_000019.4(ACAT1):c.580-5dup rs2134760866
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.580-8T>C
NM_000019.4(ACAT1):c.580-93_626del
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
NM_000019.4(ACAT1):c.594_595del (p.Asn199fs)
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val) rs1591368724
NM_000019.4(ACAT1):c.603A>G (p.Ala201=) rs1591368730
NM_000019.4(ACAT1):c.609G>A (p.Lys203=)
NM_000019.4(ACAT1):c.615T>C (p.Asn205=)
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
NM_000019.4(ACAT1):c.622C>A (p.Arg208=) rs532190594
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly) rs532190594
NM_000019.4(ACAT1):c.626dup (p.Asn209fs)
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
NM_000019.4(ACAT1):c.630A>G (p.Glu210=)
NM_000019.4(ACAT1):c.633G>A (p.Gln211=) rs2134761170
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=) rs761282960
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) rs761282960
NM_000019.4(ACAT1):c.643_644delinsAA (p.Ala215Asn) rs1591368794
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
NM_000019.4(ACAT1):c.64_72+10del rs1318268067
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.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer) rs2134761257
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=)
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg) rs1591368826
NM_000019.4(ACAT1):c.666T>C (p.Ser222=) rs2134761387
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro) rs2134761406
NM_000019.4(ACAT1):c.674C>A (p.Ala225Glu) rs1385465985
NM_000019.4(ACAT1):c.681A>G (p.Glu227=) rs2134761453
NM_000019.4(ACAT1):c.684T>C (p.Ala228=) rs2134761476
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro) rs2077152202
NM_000019.4(ACAT1):c.72+10G>A
NM_000019.4(ACAT1):c.72+10G>T rs1324987267
NM_000019.4(ACAT1):c.72+15T>A
NM_000019.4(ACAT1):c.72+17C>T
NM_000019.4(ACAT1):c.72+19C>T
NM_000019.4(ACAT1):c.72+6C>A
NM_000019.4(ACAT1):c.72+8G>C
NM_000019.4(ACAT1):c.720dup (p.Thr241fs)
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
NM_000019.4(ACAT1):c.73-10T>C
NM_000019.4(ACAT1):c.73-10T>G
NM_000019.4(ACAT1):c.73-13A>G
NM_000019.4(ACAT1):c.73-16_73-13del rs764584922
NM_000019.4(ACAT1):c.73-17_73-12del
NM_000019.4(ACAT1):c.73-18T>C
NM_000019.4(ACAT1):c.73-1G>A
NM_000019.4(ACAT1):c.73-20_73-18del rs761134266
NM_000019.4(ACAT1):c.73-9A>G
NM_000019.4(ACAT1):c.730+1G>A rs1591368919
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000019.4(ACAT1):c.730+6G>C
NM_000019.4(ACAT1):c.730+8T>G rs1203808396
NM_000019.4(ACAT1):c.731-10_731-8del
NM_000019.4(ACAT1):c.731-20T>C
NM_000019.4(ACAT1):c.731-20T>G
NM_000019.4(ACAT1):c.731-2A>G rs752216720
NM_000019.4(ACAT1):c.731-46_752del rs1591370141
NM_000019.4(ACAT1):c.731-6T>C rs574669264
NM_000019.4(ACAT1):c.732T>A (p.Gly244=) rs2134768518
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter) rs2134768525
NM_000019.4(ACAT1):c.738A>G (p.Pro246=) rs2134768546
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
NM_000019.4(ACAT1):c.753AGA[1] (p.Glu252del) rs765961551
NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) rs1591370221
NM_000019.4(ACAT1):c.759T>A (p.Asp253Glu) rs983216159
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys) rs1591370241
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter) rs2134768688
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala) rs1591370252
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
NM_000019.4(ACAT1):c.774T>G (p.Arg258=) rs778592070
NM_000019.4(ACAT1):c.777T>C (p.Val259=) rs2134768842
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter) rs2134768866
NM_000019.4(ACAT1):c.789del (p.Val264fs)
NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) rs1591360326
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
NM_000019.4(ACAT1):c.807A>G (p.Thr269=) rs2134768930
NM_000019.4(ACAT1):c.810T>C (p.Val270=) rs768923639
NM_000019.4(ACAT1):c.814del (p.Gln272fs)
NM_000019.4(ACAT1):c.824del (p.Asn275fs) rs1163072872
NM_000019.4(ACAT1):c.826+10A>G
NM_000019.4(ACAT1):c.826+15A>G
NM_000019.4(ACAT1):c.826+16T>C
NM_000019.4(ACAT1):c.826+19A>C
NM_000019.4(ACAT1):c.826+20G>A
NM_000019.4(ACAT1):c.826+2T>C rs2077590197
NM_000019.4(ACAT1):c.826+2T>G rs2077590197
NM_000019.4(ACAT1):c.826+3_826+6del
NM_000019.4(ACAT1):c.826+5G>T rs1591370366
NM_000019.4(ACAT1):c.826+7G>A
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000019.4(ACAT1):c.827-12T>G rs2134772377
NM_000019.4(ACAT1):c.827-16T>A
NM_000019.4(ACAT1):c.827-16T>C
NM_000019.4(ACAT1):c.827-16_827-15del
NM_000019.4(ACAT1):c.827-17C>G
NM_000019.4(ACAT1):c.827-18C>A
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro) rs1591371019
NM_000019.4(ACAT1):c.831A>G (p.Thr277=) rs2077608173
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr) rs1318357125
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs) rs749873354
NM_000019.4(ACAT1):c.844A>C (p.Asn282His) rs750195919
NM_000019.4(ACAT1):c.846T>C (p.Asn282=) rs2134772561
NM_000019.4(ACAT1):c.846dup (p.Ala283fs) rs2134772571
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn) rs1591371045
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile) rs1239221388
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs) rs1591360348
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
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.903G>T (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.905del (p.Lys302fs) rs398123097
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
NM_000019.4(ACAT1):c.915T>C (p.Asn305=) rs2134773010
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
NM_000019.4(ACAT1):c.936A>T (p.Ile312=)
NM_000019.4(ACAT1):c.93G>A (p.Arg31=)
NM_000019.4(ACAT1):c.940+12C>A
NM_000019.4(ACAT1):c.940+12C>G
NM_000019.4(ACAT1):c.940+13G>A
NM_000019.4(ACAT1):c.940+14_940+18del
NM_000019.4(ACAT1):c.940+15G>A
NM_000019.4(ACAT1):c.940+15_940+25del
NM_000019.4(ACAT1):c.940+16_940+20del rs2134773385
NM_000019.4(ACAT1):c.940+1G>T rs1591371185
NM_000019.4(ACAT1):c.940+20C>G
NM_000019.4(ACAT1):c.940+2T>C rs963023006
NM_000019.4(ACAT1):c.940+2dup rs2134773243
NM_000019.4(ACAT1):c.940+7C>G
NM_000019.4(ACAT1):c.940+84C>T rs12794010
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13del
NM_000019.4(ACAT1):c.941-14_941-13insCT rs1555034894
NM_000019.4(ACAT1):c.941-15C>A
NM_000019.4(ACAT1):c.941-15C>G
NM_000019.4(ACAT1):c.941-15C>T rs759374737
NM_000019.4(ACAT1):c.941-16C>A
NM_000019.4(ACAT1):c.941-16C>G rs770980645
NM_000019.4(ACAT1):c.941-16C>T
NM_000019.4(ACAT1):c.941-16_941-15insA
NM_000019.4(ACAT1):c.941-17C>A
NM_000019.4(ACAT1):c.941-17C>G
NM_000019.4(ACAT1):c.941-18C>G
NM_000019.4(ACAT1):c.941-18C>T
NM_000019.4(ACAT1):c.941-18_941-17insG
NM_000019.4(ACAT1):c.941-19C>T
NM_000019.4(ACAT1):c.941-20C>A
NM_000019.4(ACAT1):c.941-7del rs376661693
NM_000019.4(ACAT1):c.941-9T>A rs980651269
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.960A>G (p.Val320=)
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.984T>A (p.Ala328=) rs745826234
NM_000019.4(ACAT1):c.987T>C (p.Pro329=)
NM_000019.4(ACAT1):c.996T>C (p.Ala332=) rs2134780546
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)
NM_000019.4(ACAT1):c.9G>A (p.Val3=)
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
NM_000116.5(TAFAZZIN):c.109+15G>A
NM_000116.5(TAFAZZIN):c.109+15del
NM_000116.5(TAFAZZIN):c.109+20G>A
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.109+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.110-15C>G
NM_000116.5(TAFAZZIN):c.110-18C>T
NM_000116.5(TAFAZZIN):c.110-19A>C
NM_000116.5(TAFAZZIN):c.110-20G>T
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) rs2068330347
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+10C>A
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238+7G>A
NM_000116.5(TAFAZZIN):c.238+9G>C
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-11C>T
NM_000116.5(TAFAZZIN):c.239-17C>G
NM_000116.5(TAFAZZIN):c.239-17C>T
NM_000116.5(TAFAZZIN):c.239-18G>A
NM_000116.5(TAFAZZIN):c.239-19A>G
NM_000116.5(TAFAZZIN):c.239-1G>A rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C rs1603377590
NM_000116.5(TAFAZZIN):c.239-6C>T
NM_000116.5(TAFAZZIN):c.239-6del rs1064794479
NM_000116.5(TAFAZZIN):c.239-7C>T rs2148190472
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.284+17C>T
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.284+8_284+10del
NM_000116.5(TAFAZZIN):c.285-14C>T
NM_000116.5(TAFAZZIN):c.285-5C>T
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=) rs2148191873
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) rs1569552726
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+11C>T
NM_000116.5(TAFAZZIN):c.370+12del
NM_000116.5(TAFAZZIN):c.370+16A>G
NM_000116.5(TAFAZZIN):c.370+18C>T
NM_000116.5(TAFAZZIN):c.370+19G>A
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.371-13C>G rs397515742
NM_000116.5(TAFAZZIN):c.371-17T>C
NM_000116.5(TAFAZZIN):c.371-19A>T
NM_000116.5(TAFAZZIN):c.371-4G>A
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
NM_000116.5(TAFAZZIN):c.460+10G>A
NM_000116.5(TAFAZZIN):c.460+10G>T
NM_000116.5(TAFAZZIN):c.460+17G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-13C>A
NM_000116.5(TAFAZZIN):c.461-14C>A
NM_000116.5(TAFAZZIN):c.461-15G>A
NM_000116.5(TAFAZZIN):c.461-18G>A
NM_000116.5(TAFAZZIN):c.461-19A>G
NM_000116.5(TAFAZZIN):c.461-22_461-14del
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.461-7C>T
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=) rs2148210856
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+10G>A rs1396794207
NM_000116.5(TAFAZZIN):c.541+13G>A
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541+8G>A
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542-6C>T
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.583+5G>A
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) rs878853656
NM_000116.5(TAFAZZIN):c.584-11C>A
NM_000116.5(TAFAZZIN):c.584-15C>G
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.584-9C>A rs2068583124
NM_000116.5(TAFAZZIN):c.584-9C>G
NM_000116.5(TAFAZZIN):c.584-9C>T
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) rs1603381671
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His) rs2148212627
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs) rs2148212610
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.646+12G>A
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.646+13A>T
NM_000116.5(TAFAZZIN):c.646+15G>A
NM_000116.5(TAFAZZIN):c.646+18G>A
NM_000116.5(TAFAZZIN):c.646+20C>G
NM_000116.5(TAFAZZIN):c.646+7C>T
NM_000116.5(TAFAZZIN):c.646+8T>C
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-14C>G
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.699+15C>T
NM_000116.5(TAFAZZIN):c.699+17G>A
NM_000116.5(TAFAZZIN):c.699+19C>T
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.700-14C>T
NM_000116.5(TAFAZZIN):c.700-19C>G
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=) rs2148214484
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+19C>T
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.777+20C>T
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000116.5(TAFAZZIN):c.778-6C>A
NM_000116.5(TAFAZZIN):c.778-8del
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000116.5(TAZ):c.-119=
NM_000191.3(HMGCL):c.*290T>C rs886046311
NM_000191.3(HMGCL):c.-91G>T rs6697805
NM_000191.3(HMGCL):c.102A>G (p.Lys34=)
NM_000191.3(HMGCL):c.108G>C (p.Val36=)
NM_000191.3(HMGCL):c.109G>A (p.Glu37Lys)
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
NM_000191.3(HMGCL):c.116G>A (p.Gly39Asp)
NM_000191.3(HMGCL):c.121C>A (p.Arg41=)
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.123A>T (p.Arg41=) rs2148425859
NM_000191.3(HMGCL):c.124G>A (p.Asp42Asn)
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
NM_000191.3(HMGCL):c.130C>T (p.Leu44=)
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter) rs2148425853
NM_000191.3(HMGCL):c.137dup (p.Asn46fs) rs1638698938
NM_000191.3(HMGCL):c.144+15G>T
NM_000191.3(HMGCL):c.144+16A>G
NM_000191.3(HMGCL):c.144+18C>G
NM_000191.3(HMGCL):c.144+20A>C
NM_000191.3(HMGCL):c.144+2T>C rs1001955490
NM_000191.3(HMGCL):c.144+4A>G
NM_000191.3(HMGCL):c.144+8T>G rs2148425829
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)
NM_000191.3(HMGCL):c.145-11C>G
NM_000191.3(HMGCL):c.145-16TC[3] rs2148424266
NM_000191.3(HMGCL):c.145-19G>A
NM_000191.3(HMGCL):c.145-1G>C
NM_000191.3(HMGCL):c.145-5T>A
NM_000191.3(HMGCL):c.145-6C>T rs2148424258
NM_000191.3(HMGCL):c.145-7A>C
NM_000191.3(HMGCL):c.145-7A>G
NM_000191.3(HMGCL):c.145-9C>T
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
NM_000191.3(HMGCL):c.150C>A (p.Ile50=) rs376705029
NM_000191.3(HMGCL):c.153A>G (p.Val51=)
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
NM_000191.3(HMGCL):c.171C>T (p.Ile57=) rs2148424231
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg) rs1638633961
NM_000191.3(HMGCL):c.174G>A (p.Lys58=) rs2148424227
NM_000191.3(HMGCL):c.177G>T (p.Leu59=) rs1375512664
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
NM_000191.3(HMGCL):c.183C>T (p.Asp61=) rs755922538
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu) rs373738626
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
NM_000191.3(HMGCL):c.195A>G (p.Glu65=) rs2148424193
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208_209del (p.Val70fs) rs2148424175
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly) rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val) rs754437215
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn) rs1570652345
NM_000191.3(HMGCL):c.21G>A (p.Ala7=) rs751528960
NM_000191.3(HMGCL):c.21G>T (p.Ala7=)
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
NM_000191.3(HMGCL):c.225C>T (p.Ser75=) rs1357942068
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.231G>A (p.Val77=)
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter) rs2148424154
NM_000191.3(HMGCL):c.24T>C (p.Leu8=) rs2148428459
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter)
NM_000191.3(HMGCL):c.252+10A>G
NM_000191.3(HMGCL):c.252+10A>T rs1194729820
NM_000191.3(HMGCL):c.252+12C>A
NM_000191.3(HMGCL):c.252+14C>T
NM_000191.3(HMGCL):c.252+18A>G
NM_000191.3(HMGCL):c.252+19T>C
NM_000191.3(HMGCL):c.252+1G>A rs775218067
NM_000191.3(HMGCL):c.252+1G>C
NM_000191.3(HMGCL):c.252+8C>G
NM_000191.3(HMGCL):c.253-18G>A
NM_000191.3(HMGCL):c.253-2A>G
NM_000191.3(HMGCL):c.253-7T>C rs1391681111
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr) rs886046314
NM_000191.3(HMGCL):c.274T>C (p.Leu92=)
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter) rs1638620864
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
NM_000191.3(HMGCL):c.27G>C (p.Pro9=)
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr) rs2148428492
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs) rs1274176298
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
NM_000191.3(HMGCL):c.315C>G (p.Val105=)
NM_000191.3(HMGCL):c.319del (p.Thr107fs)
NM_000191.3(HMGCL):c.321C>A (p.Thr107=)
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser) rs2148423771
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu) rs1638619737
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter) rs1638619737
NM_000191.3(HMGCL):c.336C>A (p.Gly112=)
NM_000191.3(HMGCL):c.336C>G (p.Gly112=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=) rs2148428444
NM_000191.3(HMGCL):c.33A>T (p.Arg11=)
NM_000191.3(HMGCL):c.348+14T>G
NM_000191.3(HMGCL):c.348+17_348+19del
NM_000191.3(HMGCL):c.348+1G>A rs1322650779
NM_000191.3(HMGCL):c.348+1G>C
NM_000191.3(HMGCL):c.348+20G>A
NM_000191.3(HMGCL):c.348+7_348+9dup
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
NM_000191.3(HMGCL):c.349-10A>G rs755304948
NM_000191.3(HMGCL):c.349-15C>T
NM_000191.3(HMGCL):c.349-17C>G
NM_000191.3(HMGCL):c.349-19T>A
NM_000191.3(HMGCL):c.349-4G>A
NM_000191.3(HMGCL):c.349-8G>T rs770814366
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.34C>T (p.Leu12=) rs2148428443
NM_000191.3(HMGCL):c.357T>A (p.Ala119=) rs2148422516
NM_000191.3(HMGCL):c.360A>T (p.Gly120=)
NM_000191.3(HMGCL):c.374_375del (p.Val125fs) rs1638575413
NM_000191.3(HMGCL):c.378C>T (p.Ile126=) rs2148422513
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly) rs1244160232
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer) rs1638575128
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)
NM_000191.3(HMGCL):c.402C>T (p.Phe134=) rs11551767
NM_000191.3(HMGCL):c.405C>G (p.Thr135=)
NM_000191.3(HMGCL):c.408G>A (p.Lys136=)
NM_000191.3(HMGCL):c.411G>A (p.Lys137=)
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.414C>T (p.Asn138=)
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
NM_000191.3(HMGCL):c.423T>C (p.Cys141=) rs2148422474
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
NM_000191.3(HMGCL):c.42C>T (p.Gly14=) rs1638799252
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn) rs1638574066
NM_000191.3(HMGCL):c.456A>G (p.Ala152=) rs2148422453
NM_000191.3(HMGCL):c.460C>T (p.Leu154=) rs2148422448
NM_000191.3(HMGCL):c.468A>G (p.Ala156=) rs1017877874
NM_000191.3(HMGCL):c.477del (p.Ala160fs)
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
NM_000191.3(HMGCL):c.484dup (p.Ile162fs)
NM_000191.3(HMGCL):c.48G>C (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.48_60+289del
NM_000191.3(HMGCL):c.497+10A>G
NM_000191.3(HMGCL):c.497+13A>G
NM_000191.3(HMGCL):c.497+1G>A
NM_000191.3(HMGCL):c.497+1dup
NM_000191.3(HMGCL):c.497+20T>A
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val) rs2148422419
NM_000191.3(HMGCL):c.498-12G>A
NM_000191.3(HMGCL):c.498-12G>C
NM_000191.3(HMGCL):c.498-16C>T
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) rs1553132209
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.513T>C (p.Ala171=)
NM_000191.3(HMGCL):c.519C>T (p.Gly173=)
NM_000191.3(HMGCL):c.51C>A (p.Ser17=)
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met) rs2148420690
NM_000191.3(HMGCL):c.545del (p.Pro182fs) rs2148420687
NM_000191.3(HMGCL):c.54C>G (p.Leu18=)
NM_000191.3(HMGCL):c.54C>T (p.Leu18=)
NM_000191.3(HMGCL):c.558T>A (p.Ala186=) rs1638505746
NM_000191.3(HMGCL):c.561+13G>A rs755556712
NM_000191.3(HMGCL):c.561+15C>A
NM_000191.3(HMGCL):c.561+19G>A rs1239783360
NM_000191.3(HMGCL):c.561+1G>T
NM_000191.3(HMGCL):c.561+7G>C
NM_000191.3(HMGCL):c.561+9A>G
NM_000191.3(HMGCL):c.562-12T>C
NM_000191.3(HMGCL):c.562-14G>A
NM_000191.3(HMGCL):c.562-14G>C rs751368427
NM_000191.3(HMGCL):c.562-16C>T
NM_000191.3(HMGCL):c.562-18G>A
NM_000191.3(HMGCL):c.562-1G>A
NM_000191.3(HMGCL):c.562-20G>C
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.562-8T>C rs2148419215
NM_000191.3(HMGCL):c.564C>A (p.Val188=)
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter) rs139799938
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
NM_000191.3(HMGCL):c.597G>A (p.Glu199=) rs2148419180
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
NM_000191.3(HMGCL):c.60+10C>T
NM_000191.3(HMGCL):c.60+12G>T
NM_000191.3(HMGCL):c.60+1G>C
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.60+20G>A
NM_000191.3(HMGCL):c.60+6T>A
NM_000191.3(HMGCL):c.60+7G>C
NM_000191.3(HMGCL):c.60+7G>T rs368461149
NM_000191.3(HMGCL):c.60+8C>A
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu) rs1553131940
NM_000191.3(HMGCL):c.61-11T>C
NM_000191.3(HMGCL):c.61-13T>C
NM_000191.3(HMGCL):c.61-14C>T
NM_000191.3(HMGCL):c.61-16C>T
NM_000191.3(HMGCL):c.61-1G>C rs1638701269
NM_000191.3(HMGCL):c.61-4A>G
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser) rs1445870588
NM_000191.3(HMGCL):c.621T>G (p.Gly207=) rs1638449170
NM_000191.3(HMGCL):c.621del (p.Val208fs) rs2148419158
NM_000191.3(HMGCL):c.627C>A (p.Gly209=)
NM_000191.3(HMGCL):c.627C>T (p.Gly209=)
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile) rs1570645382
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.649A>G (p.Met217Val) rs767993106
NM_000191.3(HMGCL):c.652C>T (p.Leu218=) rs779813777
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile) rs745624801
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.675G>C (p.Val225=)
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup) rs1553131921
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp) rs752913892
NM_000191.3(HMGCL):c.687C>A (p.Ala229=) rs1638447338
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)
NM_000191.3(HMGCL):c.699C>T (p.His233=)
NM_000191.3(HMGCL):c.6A>T (p.Ala2=) rs375969301
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>G (p.Thr237=)
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter) rs1638446662
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter) rs1638446514
NM_000191.3(HMGCL):c.71C>A (p.Ser24Ter) rs778751712
NM_000191.3(HMGCL):c.71C>G (p.Ser24Ter)
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr) rs763416473
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)
NM_000191.3(HMGCL):c.72A>C (p.Ser24=) rs2148425901
NM_000191.3(HMGCL):c.72A>G (p.Ser24=) rs2148425901
NM_000191.3(HMGCL):c.732C>T (p.Asn244=)
NM_000191.3(HMGCL):c.735C>G (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>T (p.Thr245=)
NM_000191.3(HMGCL):c.736T>C (p.Leu246=) rs143823689
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
NM_000191.3(HMGCL):c.745C>T (p.Leu249=)
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.750+14T>C
NM_000191.3(HMGCL):c.750+14del
NM_000191.3(HMGCL):c.750+18C>T
NM_000191.3(HMGCL):c.750+19C>T
NM_000191.3(HMGCL):c.750+2T>C
NM_000191.3(HMGCL):c.750+6C>T
NM_000191.3(HMGCL):c.751-10A>G
NM_000191.3(HMGCL):c.751-10_751-9del rs1638366878
NM_000191.3(HMGCL):c.751-11T>C
NM_000191.3(HMGCL):c.751-13C>G
NM_000191.3(HMGCL):c.751-15T>A
NM_000191.3(HMGCL):c.751-17C>T
NM_000191.3(HMGCL):c.751-3T>C rs1356054021
NM_000191.3(HMGCL):c.751-4C>T
NM_000191.3(HMGCL):c.751-7T>C
NM_000191.3(HMGCL):c.751-8G>A
NM_000191.3(HMGCL):c.751-9T>C
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
NM_000191.3(HMGCL):c.765C>A (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.769del (p.Asp257fs) rs2148417048
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu) rs756958205
NM_000191.3(HMGCL):c.771C>T (p.Asp257=) rs1300668281
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
NM_000191.3(HMGCL):c.795C>G (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.795C>T (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser) rs1220289416
NM_000191.3(HMGCL):c.800C>A (p.Pro267His) rs750347526
NM_000191.3(HMGCL):c.801C>T (p.Pro267=)
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser) rs1638363983
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000191.3(HMGCL):c.826T>C (p.Leu276=) rs2148416982
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) rs121964998
NM_000191.3(HMGCL):c.840C>T (p.Asp280=)
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val) rs1638363122
NM_000191.3(HMGCL):c.841C>T (p.Leu281=) rs1638363122
NM_000191.3(HMGCL):c.846C>T (p.Val282=) rs2148416963
NM_000191.3(HMGCL):c.849C>T (p.Tyr283=)
NM_000191.3(HMGCL):c.862T>C (p.Leu288=)
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000191.3(HMGCL):c.874_876+31del
NM_000191.3(HMGCL):c.874dup (p.Thr292fs)
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met) rs1638362250
NM_000191.3(HMGCL):c.876+14C>A
NM_000191.3(HMGCL):c.876+17C>G
NM_000191.3(HMGCL):c.876+18del
NM_000191.3(HMGCL):c.876+19del
NM_000191.3(HMGCL):c.876+1G>C rs779802353
NM_000191.3(HMGCL):c.876+5_876+8dup rs1261907415
NM_000191.3(HMGCL):c.876+7C>A
NM_000191.3(HMGCL):c.876+9A>G
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
NM_000191.3(HMGCL):c.877-11G>T
NM_000191.3(HMGCL):c.877-17T>C
NM_000191.3(HMGCL):c.877-17dup
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
NM_000191.3(HMGCL):c.888C>T (p.Leu296=)
NM_000191.3(HMGCL):c.894G>A (p.Lys298=)
NM_000191.3(HMGCL):c.897T>A (p.Leu299=) rs992734996
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro) rs2148415814
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu) rs1638700415
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val) rs1638800964
NM_000191.3(HMGCL):c.909A>G (p.Gly303=)
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431
NM_000191.3(HMGCL):c.915T>C (p.Phe305=)
NM_000191.3(HMGCL):c.918C>T (p.Ile306=) rs2148415804
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys) rs1194563406
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.93G>A (p.Lys31=)
NM_000191.3(HMGCL):c.942T>A (p.Thr314=)
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg) rs1557484629
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter) rs1553131326
NM_000191.3(HMGCL):c.960G>A (p.Gln320=)
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
NM_000191.3(HMGCL):c.966C>G (p.Thr322=)
NM_000191.3(HMGCL):c.969T>C (p.Cys323=) rs2148415747
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg) rs1553131320
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser) rs1303767209
NM_000255.3(MMUT):c.[1891delG];[322C>T]
NM_000255.4(MMUT):c.*1182T>C rs1766948465
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.-35G>T rs483352795
NM_000255.4(MMUT):c.-39-1G>A rs879253822
NM_000255.4(MMUT):c.-39-2A>G rs1767786464
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1084-1G>A rs879253838
NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1102del (p.Val368fs) rs1767558588
NM_000255.4(MMUT):c.1107dup (p.Thr370fs) rs1767558268
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.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro) rs1767556193
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)
NM_000255.4(MMUT):c.1162A>C (p.Asn388His)
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) rs879253840
NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter) rs1767555126
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1218del (p.Asn407fs) rs1050465802
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del) rs1767553642
NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter) rs2127417916
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.1287C>A (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter) rs1767549304
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1333-20_1333-9del rs879253843
NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter) rs1767479902
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter) rs1767478925
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val) rs747589392
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro) rs368746965
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val) rs867154364
NM_000255.4(MMUT):c.1445-1G>C rs1226722287
NM_000255.4(MMUT):c.1445-2A>G rs398123276
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile) rs1767446166
NM_000255.4(MMUT):c.1469del (p.Asn490fs)
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+2T>C rs1767442652
NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter) rs748358807
NM_000255.4(MMUT):c.1581dup (p.Ala528fs) rs1767368923
NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)
NM_000255.4(MMUT):c.1645del (p.Leu549fs) rs1767365298
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.1670G>A (p.Arg557Gln) rs756389945
NM_000255.4(MMUT):c.1673C>T (p.Ala558Val) rs1289671563
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg) rs1767289269
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.168A>G (p.Pro56=) rs1561959894
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)
NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter) rs1767285621
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1787del (p.Glu596fs) rs1767284074
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1802del (p.Ile601fs)
NM_000255.4(MMUT):c.1808G>A (p.Arg603Lys) rs1412463565
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser) rs756743196
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr) rs1302409621
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) rs879253846
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter) rs1767240499
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala) rs879253847
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) rs879253847
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile) rs1767776360
NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-892C>A rs1581819081
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.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.1996G>A (p.Val666Met) rs776430285
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2078del (p.Gly693fs) rs879253849
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg) rs121918255
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) rs879253850
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs) rs1766985866
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly) rs2127412055
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) rs190834116
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.4(MMUT):c.29del (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.30dup (p.Leu11fs) rs879253821
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) rs879253827
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.386-1G>A rs2127420084
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) rs879253828
NM_000255.4(MMUT):c.397G>T (p.Gly133Ter) rs879253828
NM_000255.4(MMUT):c.401T>A (p.Leu134Ter) rs1767739242
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) rs879253829
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu) rs565348836
NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)
NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter) rs200735240
NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)
NM_000255.4(MMUT):c.446dup (p.Asp149fs) rs1767737608
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) rs757000253
NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)
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>T (p.Ala191Val) rs760782399
NM_000255.4(MMUT):c.595T>G (p.Phe199Val) rs2127419986
NM_000255.4(MMUT):c.610GAA[1] (p.Glu205del) rs879253831
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.652C>G (p.Gln218Glu) rs764347583
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu) rs1554160637
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.671_678dup (p.Val227fs) rs758008398
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.689_690del (p.Thr230fs) rs2127419920
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.706G>T (p.Glu236Ter) rs1767726007
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973
NM_000255.4(MMUT):c.751A>T (p.Lys251Ter) rs1319034847
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)
NM_000255.4(MMUT):c.785G>T (p.Ser262Ile) rs1767683356
NM_000255.4(MMUT):c.787G>T (p.Gly263Ter) rs1767683238
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs) rs1767682543
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) rs12175488
NM_000255.4(MMUT):c.839dup (p.Leu281fs) rs2127419415
NM_000255.4(MMUT):c.842T>A (p.Leu281Ter) rs796052007
NM_000255.4(MMUT):c.846A>G (p.Ala282=) rs1184586094
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) rs761477436
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) rs879253835
NM_000255.4(MMUT):c.876C>G (p.Leu292=) rs1767679459
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.893T>A (p.Ile298Asn) rs1767678885
NM_000255.4(MMUT):c.912-138C>T rs9395492
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) rs879253836
NM_000255.4(MMUT):c.934G>T (p.Gly312Ter) rs1767617149
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) rs879253837
NM_000255.4(MMUT):c.975del (p.Arg326fs)
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372
NM_000255.4(MMUT):c.995T>G (p.Leu332Ter) rs1767615100
NM_000282.4(PCCA):c.-4A>C rs2046021682
NM_000282.4(PCCA):c.-5C>T rs886049926
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly) rs2063428007
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=) rs2152588978
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter) rs398123297
NM_000282.4(PCCA):c.1026G>A (p.Lys342=) rs2152589052
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser) rs2063430702
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val) rs1014756935
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys) rs542465356
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser) rs2152589132
NM_000282.4(PCCA):c.1042T>C (p.Leu348=) rs2152589147
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp) rs2063431723
NM_000282.4(PCCA):c.105+11A>G
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.105+1G>C
NM_000282.4(PCCA):c.105+20C>T
NM_000282.4(PCCA):c.105+8G>A
NM_000282.4(PCCA):c.105+9C>T
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile) rs2063432405
NM_000282.4(PCCA):c.106-11T>C
NM_000282.4(PCCA):c.106-12C>A
NM_000282.4(PCCA):c.106-12del rs2152250467
NM_000282.4(PCCA):c.106-17C>T
NM_000282.4(PCCA):c.106-1G>A rs769819121
NM_000282.4(PCCA):c.106-2A>G
NM_000282.4(PCCA):c.106-5del
NM_000282.4(PCCA):c.106-5dup
NM_000282.4(PCCA):c.106-9T>G
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
NM_000282.4(PCCA):c.1065+11C>T
NM_000282.4(PCCA):c.1065+18T>A rs1458093935
NM_000282.4(PCCA):c.1065+1G>A
NM_000282.4(PCCA):c.1065+1G>C rs2063433750
NM_000282.4(PCCA):c.1065+3AAC[2] rs1467232371
NM_000282.4(PCCA):c.1065+8C>T
NM_000282.4(PCCA):c.1066-10G>C rs1486164333
NM_000282.4(PCCA):c.1066-15A>G
NM_000282.4(PCCA):c.1066-4G>T
NM_000282.4(PCCA):c.1066-7C>G
NM_000282.4(PCCA):c.1066-8C>T
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu) rs1595202534
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs) rs2152683826
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del) rs1595202607
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
NM_000282.4(PCCA):c.1099C>T (p.Leu367=) rs1328083857
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
NM_000282.4(PCCA):c.1102G>C (p.Asp368His) rs1555411121
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=) rs2152683893
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys) rs1566896430
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His) rs1303977643
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser) rs2152683965
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly) rs1484267212
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr) rs2152684002
NM_000282.4(PCCA):c.1164T>C (p.Asp388=) rs2152684012
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser) rs202015762
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
NM_000282.4(PCCA):c.1179C>A (p.Gly393=) rs1430193054
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val) rs1354175358
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly) rs1555411216
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter) rs1295357399
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs) rs879253806
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu) rs1301904623
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
NM_000282.4(PCCA):c.1209+10A>G rs764226410
NM_000282.4(PCCA):c.1209+13G>C
NM_000282.4(PCCA):c.1209+14T>G
NM_000282.4(PCCA):c.1209+18G>A
NM_000282.4(PCCA):c.1209+18G>T
NM_000282.4(PCCA):c.1209+2T>G
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_000282.4(PCCA):c.1209+6dup rs746645726
NM_000282.4(PCCA):c.1209+8G>C
NM_000282.4(PCCA):c.1209G>A (p.Glu403=) rs775767058
NM_000282.4(PCCA):c.120T>C (p.Tyr40=) rs2047399572
NM_000282.4(PCCA):c.1210-14C>T
NM_000282.4(PCCA):c.1210-15C>T
NM_000282.4(PCCA):c.1210-16T>C
NM_000282.4(PCCA):c.1210-19C>T
NM_000282.4(PCCA):c.1210-1G>A
NM_000282.4(PCCA):c.1210-4T>C rs1415422969
NM_000282.4(PCCA):c.1210-9A>T
NM_000282.4(PCCA):c.1212C>T (p.Asp404=) rs2152686072
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala) rs772750102
NM_000282.4(PCCA):c.1214C>A (p.Pro405His) rs200874114
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu) rs1190274343
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
NM_000282.4(PCCA):c.1221G>A (p.Lys407=) rs2152686094
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
NM_000282.4(PCCA):c.1249T>C (p.Leu417=) rs2066177786
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
NM_000282.4(PCCA):c.126A>G (p.Arg42=) rs763916930
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter) rs2047400320
NM_000282.4(PCCA):c.1284+10T>G
NM_000282.4(PCCA):c.1284+10dup rs1309984509
NM_000282.4(PCCA):c.1284+14C>T
NM_000282.4(PCCA):c.1284+18_1284+34del
NM_000282.4(PCCA):c.1284+19A>G rs2066182757
NM_000282.4(PCCA):c.1284+2dup rs776978090
NM_000282.4(PCCA):c.1284+7C>A
NM_000282.4(PCCA):c.1285-12_1285-8del rs2066517246
NM_000282.4(PCCA):c.1285-13_1285-6del rs535982202
NM_000282.4(PCCA):c.1285-1416A>G rs1362195093
NM_000282.4(PCCA):c.1285-1417T>C rs1232004179
NM_000282.4(PCCA):c.1285-14T>C rs1374058554
NM_000282.4(PCCA):c.1285-2A>G
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1285-7dup rs2066518077
NM_000282.4(PCCA):c.1285-8dup rs2066517246
NM_000282.4(PCCA):c.1285-9T>C
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly) rs776821944
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter) rs776821944
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu) rs759257021
NM_000282.4(PCCA):c.1311A>T (p.Pro437=) rs2152692646
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter) rs2152692650
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs) rs1594090133
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs) rs1595236063
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
NM_000282.4(PCCA):c.134_135del (p.Leu45fs) rs879253809
NM_000282.4(PCCA):c.1353+10A>C rs1595236362
NM_000282.4(PCCA):c.1353+10A>G rs1595236362
NM_000282.4(PCCA):c.1353+10del
NM_000282.4(PCCA):c.1353+12T>G
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1353+9_1353+13del
NM_000282.4(PCCA):c.1354-13T>C
NM_000282.4(PCCA):c.1354-14T>G
NM_000282.4(PCCA):c.1354-17T>G
NM_000282.4(PCCA):c.1354-20_1354-17del
NM_000282.4(PCCA):c.1354-3dup
NM_000282.4(PCCA):c.1354-8G>C
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
NM_000282.4(PCCA):c.1362A>C (p.Thr454=) rs765949778
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=) rs1225545034
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser) rs1566911665
NM_000282.4(PCCA):c.1367G>A (p.Gly456Asp)
NM_000282.4(PCCA):c.136A>G (p.Met46Val) rs774158004
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
NM_000282.4(PCCA):c.1383G>A (p.Glu461=) rs2066768313
NM_000282.4(PCCA):c.1392G>A (p.Lys464=) rs2152697440
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr) rs370549437
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu) rs769970677
NM_000282.4(PCCA):c.1407A>T (p.Ala469=) rs2152697468
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys) rs2066770739
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=) rs1437714151
NM_000282.4(PCCA):c.141G>T (p.Val47=)
NM_000282.4(PCCA):c.1422T>C (p.Val474=) rs2066771458
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe) rs35719359
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
NM_000282.4(PCCA):c.1429+10A>G
NM_000282.4(PCCA):c.1429+13A>T
NM_000282.4(PCCA):c.1429+13_1429+14del
NM_000282.4(PCCA):c.1429+15T>G
NM_000282.4(PCCA):c.1429+18C>T rs1445188783
NM_000282.4(PCCA):c.1429+20C>T rs2152697607
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
NM_000282.4(PCCA):c.1430-14C>A
NM_000282.4(PCCA):c.1430-15T>C
NM_000282.4(PCCA):c.1430-16A>G
NM_000282.4(PCCA):c.1430-17T>C
NM_000282.4(PCCA):c.1430-18A>T rs770776146
NM_000282.4(PCCA):c.1430-1G>A rs2152733805
NM_000282.4(PCCA):c.1430-2A>T
NM_000282.4(PCCA):c.1430-8A>T
NM_000282.4(PCCA):c.1430-9dup
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
NM_000282.4(PCCA):c.1449A>G (p.Ala483=) rs764611115
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe) rs1302157004
NM_000282.4(PCCA):c.1455T>C (p.Leu485=) rs752220238
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter) rs2069404553
NM_000282.4(PCCA):c.1458A>C (p.Arg486=) rs2152733872
NM_000282.4(PCCA):c.145del (p.Arg49fs) rs2047402577
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp) rs767997785
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
NM_000282.4(PCCA):c.1477del (p.Arg493fs) rs746733688
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
NM_000282.4(PCCA):c.1491A>G (p.Gly497=) rs965243149
NM_000282.4(PCCA):c.1494C>T (p.Asp498=) rs977076579
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu) rs146061036
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=) rs2152734002
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val) rs779659813
NM_000282.4(PCCA):c.1539del (p.Gly514fs) rs1566945996
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
NM_000282.4(PCCA):c.1540+13T>C rs2069419811
NM_000282.4(PCCA):c.1540+2T>A rs1555422449
NM_000282.4(PCCA):c.1540+7A>G rs761046263
NM_000282.4(PCCA):c.1540+9G>A
NM_000282.4(PCCA):c.1540+9G>T
NM_000282.4(PCCA):c.1541-12_1541-9del rs763530693
NM_000282.4(PCCA):c.1541-14T>C
NM_000282.4(PCCA):c.1541-16G>A
NM_000282.4(PCCA):c.1541-17T>C
NM_000282.4(PCCA):c.1541-19G>A
NM_000282.4(PCCA):c.1541-19G>T
NM_000282.4(PCCA):c.1541-19_1541-12del
NM_000282.4(PCCA):c.1541-19del rs773809966
NM_000282.4(PCCA):c.1541-1G>C
NM_000282.4(PCCA):c.1541-20_1541-9del
NM_000282.4(PCCA):c.1541-5C>T
NM_000282.4(PCCA):c.1541-6C>T
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter) rs2071086995
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn) rs2071087775
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr) rs2152751879
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu) rs2071090257
NM_000282.4(PCCA):c.1590A>G (p.Ser530=) rs2152751916
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
NM_000282.4(PCCA):c.1593A>G (p.Ser531=) rs2152751931
NM_000282.4(PCCA):c.1594T>C (p.Leu532=) rs2152751935
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs) rs1344574242
NM_000282.4(PCCA):c.1599T>C (p.Phe533=) rs2152751951
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter) rs11539554
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
NM_000282.4(PCCA):c.1620A>G (p.Ala540=) rs1566960733
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg) rs2152751997
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
NM_000282.4(PCCA):c.1643+11T>C rs2152752064
NM_000282.4(PCCA):c.1643+12C>A
NM_000282.4(PCCA):c.1643+15T>C
NM_000282.4(PCCA):c.1643+17A>G
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1643+6G>A
NM_000282.4(PCCA):c.1643+8_1643+13del rs2152752048
NM_000282.4(PCCA):c.1643+9G>A
NM_000282.4(PCCA):c.1644-18C>T rs1431833092
NM_000282.4(PCCA):c.1644-7A>G
NM_000282.4(PCCA):c.1644-9C>T rs1425956784
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile) rs61749895
NM_000282.4(PCCA):c.1665C>T (p.Asp555=) rs1461874924
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val) rs2152811800
NM_000282.4(PCCA):c.1671C>G (p.Ala557=) rs2075362375
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter) rs202247816
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
NM_000282.4(PCCA):c.1695G>A (p.Leu565=) rs1595621243
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
NM_000282.4(PCCA):c.16del (p.Val6fs)
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
NM_000282.4(PCCA):c.1716dup (p.Val573fs) rs2152811869
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp) rs1475268855
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys) rs2152811890
NM_000282.4(PCCA):c.1731T>C (p.Asn577=) rs2152811890
NM_000282.4(PCCA):c.1740G>A (p.Val580=) rs2152811913
NM_000282.4(PCCA):c.1746+12T>C
NM_000282.4(PCCA):c.1746+14_1746+17del
NM_000282.4(PCCA):c.1746+15T>C
NM_000282.4(PCCA):c.1746+17del
NM_000282.4(PCCA):c.1746+1G>A rs2075369142
NM_000282.4(PCCA):c.1746+2T>C
NM_000282.4(PCCA):c.1747-11T>C
NM_000282.4(PCCA):c.1747-12G>A
NM_000282.4(PCCA):c.1747-15T>G
NM_000282.4(PCCA):c.1747-18T>C
NM_000282.4(PCCA):c.1747-1G>C rs879253803
NM_000282.4(PCCA):c.1747-20C>T
NM_000282.4(PCCA):c.1747-6C>T
NM_000282.4(PCCA):c.1747-7A>G
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala) rs2079091617
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
NM_000282.4(PCCA):c.1773T>C (p.Asn591=) rs1595860527
NM_000282.4(PCCA):c.1791C>T (p.Asn597=) rs2079093623
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val) rs2079093758
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
NM_000282.4(PCCA):c.1800G>C (p.Ser600=) rs761681712
NM_000282.4(PCCA):c.1800G>T (p.Ser600=) rs761681712
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
NM_000282.4(PCCA):c.1806A>G (p.Leu602=) rs2152893970
NM_000282.4(PCCA):c.1807T>C (p.Leu603=) rs2079094668
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
NM_000282.4(PCCA):c.1812T>C (p.Ser604=) rs2152893989
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr) rs2079095516
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe) rs751083923
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala) rs749767976
NM_000282.4(PCCA):c.183+15G>T
NM_000282.4(PCCA):c.183+19T>C rs780105316
NM_000282.4(PCCA):c.183+2T>C rs1555342593
NM_000282.4(PCCA):c.183+3A>G
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.183+7A>G rs369767655
NM_000282.4(PCCA):c.183+9T>G rs2152251053
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter) rs2152894046
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr) rs1947530469
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
NM_000282.4(PCCA):c.184-10C>G
NM_000282.4(PCCA):c.184-10C>T rs2048349934
NM_000282.4(PCCA):c.184-11dup
NM_000282.4(PCCA):c.184-15T>G rs1257547578
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000282.4(PCCA):c.184-19G>A
NM_000282.4(PCCA):c.184-1G>A rs879253807
NM_000282.4(PCCA):c.184-9T>A
NM_000282.4(PCCA):c.184-9T>C
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
NM_000282.4(PCCA):c.1845+10G>T rs1456360150
NM_000282.4(PCCA):c.1845+12A>G
NM_000282.4(PCCA):c.1845+13A>G
NM_000282.4(PCCA):c.1845+1G>A rs1595860868
NM_000282.4(PCCA):c.1845+20C>A
NM_000282.4(PCCA):c.1845+21del
NM_000282.4(PCCA):c.1845+2T>G
NM_000282.4(PCCA):c.1845+8T>C
NM_000282.4(PCCA):c.1845+9T>C
NM_000282.4(PCCA):c.1846-10dup
NM_000282.4(PCCA):c.1846-13G>T
NM_000282.4(PCCA):c.1846-15_1846-14del
NM_000282.4(PCCA):c.1846-1G>A rs1555298451
NM_000282.4(PCCA):c.1846-1G>T rs1555298451
NM_000282.4(PCCA):c.1846-20A>G
NM_000282.4(PCCA):c.1846-2_1852del rs2152925644
NM_000282.4(PCCA):c.1846-6T>C
NM_000282.4(PCCA):c.1846-9_1846-6del
NM_000282.4(PCCA):c.1847_1848del
NM_000282.4(PCCA):c.184del (p.Thr62fs) rs879253812
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
NM_000282.4(PCCA):c.1863A>C (p.Ala621=) rs937736837
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) rs796052018
NM_000282.4(PCCA):c.1893T>C (p.Gly631=) rs2152925693
NM_000282.4(PCCA):c.1896A>C (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly) rs375617644
NM_000282.4(PCCA):c.1899+12A>G
NM_000282.4(PCCA):c.1899+14C>T
NM_000282.4(PCCA):c.1899+15A>G rs1595942350
NM_000282.4(PCCA):c.1899+18C>A
NM_000282.4(PCCA):c.1899+1G>T
NM_000282.4(PCCA):c.1899+21_1899+24del
NM_000282.4(PCCA):c.1899+2_1899+3insCT rs2081058900
NM_000282.4(PCCA):c.1899+4_1899+7del rs794727334
NM_000282.4(PCCA):c.189del (p.Phe63fs)
NM_000282.4(PCCA):c.18C>G (p.Val6=)
NM_000282.4(PCCA):c.18C>T (p.Val6=) rs752423629
NM_000282.4(PCCA):c.1900-14G>T
NM_000282.4(PCCA):c.1900-15T>C
NM_000282.4(PCCA):c.1900-15del
NM_000282.4(PCCA):c.1900-1G>A rs2152998142
NM_000282.4(PCCA):c.1900-20G>T
NM_000282.4(PCCA):c.1900-2A>G rs2152998141
NM_000282.4(PCCA):c.1900-7C>T
NM_000282.4(PCCA):c.1900-8C>T rs1480940423
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
NM_000282.4(PCCA):c.1915T>C (p.Leu639=) rs2152998157
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser) rs1594099709
NM_000282.4(PCCA):c.1920C>T (p.Thr640=) rs2152998162
NM_000282.4(PCCA):c.1920del (p.Arg641fs) rs1594099731
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
NM_000282.4(PCCA):c.1951C>T (p.Leu651=) rs1449490636
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1953G>T (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.1962G>A (p.Val654=) rs2086766593
NM_000282.4(PCCA):c.1962G>T (p.Val654=) rs2086766593
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
NM_000282.4(PCCA):c.2007G>C (p.Val669=) rs2152998254
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
NM_000282.4(PCCA):c.2016C>A (p.Ala672=) rs773033856
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile) rs142646074
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
NM_000282.4(PCCA):c.2027del (p.Lys676fs) rs1555327702
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
NM_000282.4(PCCA):c.2031T>C (p.Pro677=) rs2152998273
NM_000282.4(PCCA):c.2040+12G>C
NM_000282.4(PCCA):c.2040+12G>T
NM_000282.4(PCCA):c.2040+15T>C
NM_000282.4(PCCA):c.2040+16G>C rs2152998313
NM_000282.4(PCCA):c.2040+17TC[4] rs1312258807
NM_000282.4(PCCA):c.2040+18C>G
NM_000282.4(PCCA):c.2040+1G>T rs1555327732
NM_000282.4(PCCA):c.2040+20C>G
NM_000282.4(PCCA):c.2040+2T>G
NM_000282.4(PCCA):c.2040+7G>A
NM_000282.4(PCCA):c.2040+8C>T
NM_000282.4(PCCA):c.2040+9TG[3] rs751014655
NM_000282.4(PCCA):c.2040+9TG[5] rs751014655
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2041-10del
NM_000282.4(PCCA):c.2041-16C>T
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.2041-8T>C rs2153008293
NM_000282.4(PCCA):c.2041_2044del
NM_000282.4(PCCA):c.2043A>G (p.Val681=) rs745390236
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu) rs1594160545
NM_000282.4(PCCA):c.207T>C (p.Ala69=) rs2152278538
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn) rs2087964084
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
NM_000282.4(PCCA):c.2094T>C (p.Ser698=) rs2153008347
NM_000282.4(PCCA):c.2098_2104del (p.Thr700fs)
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
NM_000282.4(PCCA):c.2100A>G (p.Thr700=) rs141926030
NM_000282.4(PCCA):c.2103del (p.Thr704fs) rs1555331314
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys) rs2087968295
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
NM_000282.4(PCCA):c.2118+12_2118+19dup
NM_000282.4(PCCA):c.2118+18C>T
NM_000282.4(PCCA):c.2118+3G>C
NM_000282.4(PCCA):c.2118+7C>T
NM_000282.4(PCCA):c.2118G>A (p.Thr706=) rs758468297
NM_000282.4(PCCA):c.2119-17A>G
NM_000282.4(PCCA):c.2119-19G>A rs1162118685
NM_000282.4(PCCA):c.2119-1G>C
NM_000282.4(PCCA):c.2119-2A>G rs867315913
NM_000282.4(PCCA):c.2119-4C>T
NM_000282.4(PCCA):c.2124A>G (p.Lys708=) rs2153010943
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs) rs1317003529
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
NM_000282.4(PCCA):c.2133C>T (p.His711=)
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg) rs2088292660
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg) rs141286340
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs) rs1594175453
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val) rs1283571787
NM_000282.4(PCCA):c.2167C>T (p.Leu723=) rs748808267
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) rs2152278559
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
NM_000282.4(PCCA):c.21del (p.Thr8fs) rs1593996210
NM_000282.4(PCCA):c.225A>C (p.Ala75=) rs1243423868
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
NM_000282.4(PCCA):c.231+10A>G
NM_000282.4(PCCA):c.231+18C>A
NM_000282.4(PCCA):c.231+19T>G
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000282.4(PCCA):c.231+9_231+13del rs759203419
NM_000282.4(PCCA):c.232-13T>C
NM_000282.4(PCCA):c.232-17A>C
NM_000282.4(PCCA):c.232-18T>A
NM_000282.4(PCCA):c.232-18T>C
NM_000282.4(PCCA):c.232-2A>G rs747968405
NM_000282.4(PCCA):c.232-2A>T rs747968405
NM_000282.4(PCCA):c.232-6A>T rs527249599
NM_000282.4(PCCA):c.234del (p.Ile79fs)
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
NM_000282.4(PCCA):c.243T>C (p.Thr81=) rs2152278998
NM_000282.4(PCCA):c.24A>T (p.Thr8=) rs117397004
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs) rs999936193
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn) rs2152279056
NM_000282.4(PCCA):c.267A>G (p.Thr89=) rs2152279061
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
NM_000282.4(PCCA):c.273C>T (p.Ala91=) rs2152279075
NM_000282.4(PCCA):c.279C>T (p.His93=) rs776253297
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly) rs879253801
NM_000282.4(PCCA):c.284del (p.Asp95fs) rs775825345
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
NM_000282.4(PCCA):c.287T>C (p.Val96Ala) rs2048368792
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
NM_000282.4(PCCA):c.293C>T (p.Ala98Val) rs2152279131
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln) rs1251572354
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu) rs1251572354
NM_000282.4(PCCA):c.2T>A (p.Met1Lys) rs372093520
NM_000282.4(PCCA):c.300+15G>A
NM_000282.4(PCCA):c.300+18T>C
NM_000282.4(PCCA):c.300+1G>A
NM_000282.4(PCCA):c.300+2T>G
NM_000282.4(PCCA):c.300+2dup rs2048370100
NM_000282.4(PCCA):c.300+7A>G rs1241971231
NM_000282.4(PCCA):c.300+8T>G
NM_000282.4(PCCA):c.300+9A>G rs2152279171
NM_000282.4(PCCA):c.301-10G>A
NM_000282.4(PCCA):c.301-11T>C
NM_000282.4(PCCA):c.301-18A>G
NM_000282.4(PCCA):c.301-5C>T rs2152382806
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
NM_000282.4(PCCA):c.305del (p.His102fs) rs1594413545
NM_000282.4(PCCA):c.306T>C (p.His102=) rs1388078702
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
NM_000282.4(PCCA):c.334_335del (p.Val112fs) rs1594413897
NM_000282.4(PCCA):c.33G>A (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala) rs1566594619
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys) rs936088423
NM_000282.4(PCCA):c.366C>T (p.Leu122=) rs1228885494
NM_000282.4(PCCA):c.370A>G (p.Met124Val) rs748802820
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
NM_000282.4(PCCA):c.378C>T (p.Ala126=) rs2152382977
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
NM_000282.4(PCCA):c.396G>A (p.Lys132=) rs2152383018
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr) rs202247814
NM_000282.4(PCCA):c.414+104C>T rs9585366
NM_000282.4(PCCA):c.414+11A>G
NM_000282.4(PCCA):c.414+15A>C
NM_000282.4(PCCA):c.414+15A>G rs1016791209
NM_000282.4(PCCA):c.414+19A>T
NM_000282.4(PCCA):c.414+1G>C
NM_000282.4(PCCA):c.414+1G>T rs2152383049
NM_000282.4(PCCA):c.415-10C>A
NM_000282.4(PCCA):c.415-13T>C
NM_000282.4(PCCA):c.415-1G>A
NM_000282.4(PCCA):c.415-1G>C
NM_000282.4(PCCA):c.415-2A>G rs746286209
NM_000282.4(PCCA):c.415-4T>C rs2152387053
NM_000282.4(PCCA):c.415G>A (p.Val139Ile) rs770129876
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
NM_000282.4(PCCA):c.42C>G (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.431G>T (p.Gly144Val) rs879253808
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter) rs1593996636
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer) rs1555361758
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
NM_000282.4(PCCA):c.446del (p.Asn149fs) rs1206838893
NM_000282.4(PCCA):c.447del (p.Asn149fs)
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
NM_000282.4(PCCA):c.449_468+443del rs2152387124
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
NM_000282.4(PCCA):c.459C>T (p.Ala153=) rs1358991180
NM_000282.4(PCCA):c.459del (p.Arg154fs)
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter) rs760387660
NM_000282.4(PCCA):c.468+10T>C
NM_000282.4(PCCA):c.468+10T>G rs2152387181
NM_000282.4(PCCA):c.468+15A>G
NM_000282.4(PCCA):c.468+18C>G
NM_000282.4(PCCA):c.468+18C>T
NM_000282.4(PCCA):c.468+19A>G
NM_000282.4(PCCA):c.468+1G>A rs766139678
NM_000282.4(PCCA):c.468+1G>C
NM_000282.4(PCCA):c.468+2T>C
NM_000282.4(PCCA):c.468+8G>A rs2152387172
NM_000282.4(PCCA):c.468+8_468+10dup
NM_000282.4(PCCA):c.469-4A>G
NM_000282.4(PCCA):c.469-5C>T
NM_000282.4(PCCA):c.469-5dup
NM_000282.4(PCCA):c.469-8C>A
NM_000282.4(PCCA):c.469-9del
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
NM_000282.4(PCCA):c.483C>G (p.Val161=)
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr) rs1177671858
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr) rs202247815
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
NM_000282.4(PCCA):c.497del (p.Pro166fs)
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
NM_000282.4(PCCA):c.505_506del (p.His169fs) rs2152478652
NM_000282.4(PCCA):c.506dup (p.His169fs) rs2152478688
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp) rs1421021643
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg) rs779286461
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn) rs2152478767
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter) rs879253811
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly) rs2059068868
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter) rs2059069232
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del) rs2152478820
NM_000282.4(PCCA):c.564G>A (p.Glu188=) rs1594744855
NM_000282.4(PCCA):c.567T>C (p.Val189=) rs773301690
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu) rs1225108460
NM_000282.4(PCCA):c.579T>G (p.Pro193=) rs2152478869
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg) rs1302125451
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
NM_000282.4(PCCA):c.597C>G (p.Val199=)
NM_000282.4(PCCA):c.600+15T>C
NM_000282.4(PCCA):c.600+16A>C
NM_000282.4(PCCA):c.600+17A>C
NM_000282.4(PCCA):c.600+1G>A rs879253802
NM_000282.4(PCCA):c.600+1G>T rs879253802
NM_000282.4(PCCA):c.601-10G>A rs903647084
NM_000282.4(PCCA):c.601-12C>T
NM_000282.4(PCCA):c.601-18C>T
NM_000282.4(PCCA):c.601-4A>G
NM_000282.4(PCCA):c.601-6T>C
NM_000282.4(PCCA):c.601-9C>T rs775469263
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
NM_000282.4(PCCA):c.603T>C (p.Asp201=) rs773868428
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del) rs750672608
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
NM_000282.4(PCCA):c.612A>G (p.Glu204=) rs1594860188
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338
NM_000282.4(PCCA):c.622del (p.Ile208fs)
NM_000282.4(PCCA):c.630G>A (p.Arg210=) rs2152522233
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.637+1G>A rs1265911468
NM_000282.4(PCCA):c.637+2T>A rs2152522245
NM_000282.4(PCCA):c.637+3A>G
NM_000282.4(PCCA):c.637+9T>G rs2152522254
NM_000282.4(PCCA):c.638-1G>A
NM_000282.4(PCCA):c.638-2A>G
NM_000282.4(PCCA):c.638-2del
NM_000282.4(PCCA):c.638-5G>T rs764316702
NM_000282.4(PCCA):c.638-7C>T rs2152558252
NM_000282.4(PCCA):c.63G>A (p.Pro21=) rs2152189800
NM_000282.4(PCCA):c.645T>A (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.645dup (p.Val216fs)
NM_000282.4(PCCA):c.649A>G (p.Met217Val) rs372844772
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
NM_000282.4(PCCA):c.650T>C (p.Met217Thr) rs750593565
NM_000282.4(PCCA):c.651G>C (p.Met217Ile) rs1018685292
NM_000282.4(PCCA):c.652A>C (p.Ile218Leu) rs1012525921
NM_000282.4(PCCA):c.656dup (p.Ala220fs) rs1594961338
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
NM_000282.4(PCCA):c.672dup (p.Gly225fs) rs1164986524
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp) rs2062161647
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)
NM_000282.4(PCCA):c.683G>T (p.Gly228Val) rs1594961620
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
NM_000282.4(PCCA):c.696T>G (p.Ala232=) rs2152558384
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.69_78del (p.Gln23fs) rs781030239
NM_000282.4(PCCA):c.6G>A (p.Ala2=) rs958365590
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
NM_000282.4(PCCA):c.716+16A>G
NM_000282.4(PCCA):c.716+1G>C
NM_000282.4(PCCA):c.716+20A>G
NM_000282.4(PCCA):c.716+2T>C
NM_000282.4(PCCA):c.717-13_717-11del rs2152564870
NM_000282.4(PCCA):c.717-15T>G
NM_000282.4(PCCA):c.717-19T>G
NM_000282.4(PCCA):c.717-2A>G rs2062611307
NM_000282.4(PCCA):c.717-5dup rs2062610539
NM_000282.4(PCCA):c.717-8T>G rs1367148068
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
NM_000282.4(PCCA):c.72G>A (p.Gln24=) rs2152189926
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter) rs1594992191
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) rs1064793224
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
NM_000282.4(PCCA):c.756T>C (p.Ser252=) rs2152564931
NM_000282.4(PCCA):c.75G>T (p.Leu25=) rs1295789610
NM_000282.4(PCCA):c.762C>A (p.Gly254=) rs758211858
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly) rs746776657
NM_000282.4(PCCA):c.771A>G (p.Arg257=) rs1483857199
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
NM_000282.4(PCCA):c.780A>T (p.Ile260=) rs1451573276
NM_000282.4(PCCA):c.783A>G (p.Glu261=) rs917366865
NM_000282.4(PCCA):c.786del (p.Lys262fs)
NM_000282.4(PCCA):c.789del (p.Phe263fs)
NM_000282.4(PCCA):c.792T>G (p.Ile264Met) rs1484956776
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr) rs2152564988
NM_000282.4(PCCA):c.79C>T (p.Leu27=) rs2152189967
NM_000282.4(PCCA):c.801T>C (p.Pro267=) rs2152564990
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu) rs368047060
NM_000282.4(PCCA):c.805C>T (p.His269Tyr) rs2062620327
NM_000282.4(PCCA):c.807T>C (p.His269=) rs2152565006
NM_000282.4(PCCA):c.819+10T>C rs1280822128
NM_000282.4(PCCA):c.819+13_819+35del
NM_000282.4(PCCA):c.819+16A>T rs377356398
NM_000282.4(PCCA):c.819+19C>T
NM_000282.4(PCCA):c.819+1G>A
NM_000282.4(PCCA):c.819+7A>G
NM_000282.4(PCCA):c.819+8C>T
NM_000282.4(PCCA):c.81G>A (p.Leu27=) rs2152189973
NM_000282.4(PCCA):c.820-18A>G
NM_000282.4(PCCA):c.820-1G>A rs2063103516
NM_000282.4(PCCA):c.820-1G>T
NM_000282.4(PCCA):c.820-8T>C
NM_000282.4(PCCA):c.820-9C>T rs1371297395
NM_000282.4(PCCA):c.820G>A (p.Val274Ile) rs767299022
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu) rs1595032543
NM_000282.4(PCCA):c.837del (p.His279fs)
NM_000282.4(PCCA):c.841A>C (p.Asn281His) rs2152572294
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
NM_000282.4(PCCA):c.847T>C (p.Leu283=) rs911990330
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys) rs778427348
NM_000282.4(PCCA):c.85del (p.Ala29fs)
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.866_867del (p.Glu289fs) rs760976198
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr) rs1595032920
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter) rs1595033018
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu) rs1595033018
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
NM_000282.4(PCCA):c.880A>C (p.Arg294=) rs2063109467
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
NM_000282.4(PCCA):c.895G>A (p.Val299Met) rs1188239325
NM_000282.4(PCCA):c.897G>C (p.Val299=) rs770113371
NM_000282.4(PCCA):c.900G>A (p.Val300=) rs2152572391
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln) rs775686458
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
NM_000282.4(PCCA):c.90G>C (p.Ala30=) rs776449255
NM_000282.4(PCCA):c.90G>T (p.Ala30=) rs776449255
NM_000282.4(PCCA):c.912A>G (p.Pro304=) rs2063111759
NM_000282.4(PCCA):c.914+14G>A
NM_000282.4(PCCA):c.914+14G>C rs2152572441
NM_000282.4(PCCA):c.914+16A>T
NM_000282.4(PCCA):c.914+17A>G
NM_000282.4(PCCA):c.914+17A>T
NM_000282.4(PCCA):c.914+18_914+19inv
NM_000282.4(PCCA):c.914+1G>A
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.914+9C>T
NM_000282.4(PCCA):c.915-11dup rs1311154145
NM_000282.4(PCCA):c.915-13T>G
NM_000282.4(PCCA):c.915-15T>G
NM_000282.4(PCCA):c.915-18A>G
NM_000282.4(PCCA):c.915-18del
NM_000282.4(PCCA):c.915-1G>C rs367615795
NM_000282.4(PCCA):c.915-4G>A
NM_000282.4(PCCA):c.915-5T>C rs2152587983
NM_000282.4(PCCA):c.915-6A>G rs2063416816
NM_000282.4(PCCA):c.915-6A>T rs2063416816
NM_000282.4(PCCA):c.915-8A>G rs2063416324
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg) rs768758704
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
NM_000282.4(PCCA):c.91C>T (p.Leu31=) rs2152190063
NM_000282.4(PCCA):c.923dup (p.Leu308fs) rs573607437
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
NM_000282.4(PCCA):c.930G>C (p.Ala310=) rs377248400
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp) rs369790356
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly) rs138149179
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
NM_000282.4(PCCA):c.940A>C (p.Arg314=) rs2152588262
NM_000282.4(PCCA):c.942A>G (p.Arg314=) rs2152588280
NM_000282.4(PCCA):c.944C>T (p.Ala315Val) rs1302507711
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
NM_000282.4(PCCA):c.947T>G (p.Met316Arg) rs137861347
NM_000282.4(PCCA):c.94C>A (p.Arg32=) rs2152190089
NM_000282.4(PCCA):c.954A>G (p.Glu318=) rs2152588516
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
NM_000282.4(PCCA):c.957A>G (p.Gln319=) rs756496977
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr) rs1434912184
NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
NM_000282.4(PCCA):c.966T>G (p.Ala322=) rs2152588623
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe) rs1394612377
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
NM_000282.4(PCCA):c.972C>G (p.Ala324=) rs2063425317
NM_000282.4(PCCA):c.972C>T (p.Ala324=) rs2063425317
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
NM_000282.4(PCCA):c.981A>G (p.Val327=) rs2063425788
NM_000282.4(PCCA):c.996T>C (p.Ala332=) rs2152588809
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
NM_000282.4(PCCA):c.999G>A (p.Gly333=) rs2063427075
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
NM_000282.4(PCCA):c.9G>C (p.Gly3=) rs547209141
NM_000411.8(HLCS):c.-393+2558C>T
NM_000411.8(HLCS):c.1681dup
NM_000528.4(MAN2B1):c.729_730insTT (p.Ser244fs) rs1568307275
NM_000532.4(PCCB):c.-46A>T rs751837162
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCins12 (p.?)
NM_000532.5(PCCB):c.*128_*132del rs886058021
NM_000532.5(PCCB):c.-8_12del (p.Met1fs) rs2108127602
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
NM_000532.5(PCCB):c.1002C>A (p.Pro334=) rs370304541
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp) rs1934921365
NM_000532.5(PCCB):c.1017C>T (p.Asn339=) rs764080368
NM_000532.5(PCCB):c.1020C>T (p.Ile340=) rs2108226621
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs) rs2108226643
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs) rs2108226666
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
NM_000532.5(PCCB):c.1047G>A (p.Gly349=) rs2108226680
NM_000532.5(PCCB):c.105dup (p.Asn36Ter) rs2108127935
NM_000532.5(PCCB):c.1068C>T (p.Gly356=) rs980116020
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
NM_000532.5(PCCB):c.1086C>T (p.Ala362=) rs748740009
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu) rs2108226720
NM_000532.5(PCCB):c.1090+11G>A
NM_000532.5(PCCB):c.1090+13T>C
NM_000532.5(PCCB):c.1090+13_1090+16del
NM_000532.5(PCCB):c.1090+15_1090+16dup
NM_000532.5(PCCB):c.1090+17A>C
NM_000532.5(PCCB):c.1090+17A>T
NM_000532.5(PCCB):c.1090+17dup
NM_000532.5(PCCB):c.1090+19A>G
NM_000532.5(PCCB):c.1090+2T>C rs1553782779
NM_000532.5(PCCB):c.1090+3A>C
NM_000532.5(PCCB):c.1090+6A>C
NM_000532.5(PCCB):c.1090+7T>C rs2108226731
NM_000532.5(PCCB):c.1090+8G>A rs2108226738
NM_000532.5(PCCB):c.1090_1090+1insTC
NM_000532.5(PCCB):c.1091-12C>G
NM_000532.5(PCCB):c.1091-12C>T
NM_000532.5(PCCB):c.1091-14C>T
NM_000532.5(PCCB):c.1091-15TC[3]
NM_000532.5(PCCB):c.1091-16_1091-14del
NM_000532.5(PCCB):c.1091-19A>G
NM_000532.5(PCCB):c.1091-1G>A rs2108237784
NM_000532.5(PCCB):c.1091-4C>T rs759283485
NM_000532.5(PCCB):c.1091-6_1091-3del rs767794302
NM_000532.5(PCCB):c.1091-8C>T
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1091-9T>C
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
NM_000532.5(PCCB):c.10del (p.Ala4fs)
NM_000532.5(PCCB):c.1119A>G (p.Lys373=) rs2108237811
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val) rs1576360099
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys) rs200306164
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu) rs761529521
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe) rs761529521
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr) rs1024773388
NM_000532.5(PCCB):c.1142dup (p.Cys381fs) rs2108237854
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs) rs1307858265
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu) rs2108237867
NM_000532.5(PCCB):c.1146T>C (p.Asp382=) rs2108237867
NM_000532.5(PCCB):c.1149A>T (p.Ala383=) rs1303454039
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
NM_000532.5(PCCB):c.115A>G (p.Ile39Val) rs1208205672
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn) rs2108237886
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) rs201880353
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs) rs587776758
NM_000532.5(PCCB):c.1173dup (p.Val392fs) rs587776758
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
NM_000532.5(PCCB):c.1194A>G (p.Leu398=) rs767647079
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg) rs753037539
NM_000532.5(PCCB):c.1198+12A>G
NM_000532.5(PCCB):c.1198+13C>T
NM_000532.5(PCCB):c.1198+14A>G
NM_000532.5(PCCB):c.1198+17G>A
NM_000532.5(PCCB):c.1198+18T>G
NM_000532.5(PCCB):c.1198+18dup
NM_000532.5(PCCB):c.1198+19G>C
NM_000532.5(PCCB):c.1198+19G>T
NM_000532.5(PCCB):c.1198+1G>A rs1935333494
NM_000532.5(PCCB):c.1199-15C>G
NM_000532.5(PCCB):c.1199-15C>T
NM_000532.5(PCCB):c.1199-17C>T
NM_000532.5(PCCB):c.1199-18dup rs2108238321
NM_000532.5(PCCB):c.1199-1G>A
NM_000532.5(PCCB):c.1199-1G>C
NM_000532.5(PCCB):c.1199-20T>G
NM_000532.5(PCCB):c.1199-2A>G
NM_000532.5(PCCB):c.1199-4C>G
NM_000532.5(PCCB):c.1199-5T>C
NM_000532.5(PCCB):c.1199-7T>C
NM_000532.5(PCCB):c.1199-9C>T
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup) rs777359703
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys) rs371610471
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter) rs768935968
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys) rs777027944
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter) rs2108238365
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
NM_000532.5(PCCB):c.1220G>A (p.Gly407Asp)
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
NM_000532.5(PCCB):c.1220del (p.Gly407fs) rs1576360488
NM_000532.5(PCCB):c.1221del (p.Ile408fs) rs1560033769
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
NM_000532.5(PCCB):c.1226del (p.Ile409fs) rs1560033794
NM_000532.5(PCCB):c.1228C>A (p.Arg410=) rs121964959
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser) rs1576360539
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp) rs994386938
NM_000532.5(PCCB):c.1242G>A (p.Lys414=) rs780048274
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
NM_000532.5(PCCB):c.1248C>T (p.Leu416=) rs747022334
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter) rs1553784569
NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
NM_000532.5(PCCB):c.1269T>A (p.Thr423=) rs2108238461
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
NM_000532.5(PCCB):c.1275del (p.Val427fs) rs2108238464
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys) rs1031941989
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs) rs775583360
NM_000532.5(PCCB):c.1287C>A (p.Val429=) rs2108238489
NM_000532.5(PCCB):c.1287C>G (p.Val429=) rs2108238489
NM_000532.5(PCCB):c.1288_1299+5del rs1250541852
NM_000532.5(PCCB):c.1293C>T (p.Thr431=) rs1474177341
NM_000532.5(PCCB):c.1299+12A>G rs751610521
NM_000532.5(PCCB):c.1299+19A>C
NM_000532.5(PCCB):c.1299+3_1299+10del
NM_000532.5(PCCB):c.1299+5G>A
NM_000532.5(PCCB):c.1299+7A>T
NM_000532.5(PCCB):c.1299+9C>T
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del) rs1553773148
NM_000532.5(PCCB):c.1300-12G>T
NM_000532.5(PCCB):c.1300-13G>A rs1320397998
NM_000532.5(PCCB):c.1300-18C>T
NM_000532.5(PCCB):c.1300-19G>A
NM_000532.5(PCCB):c.1300-1G>A
NM_000532.5(PCCB):c.1300-1G>C
NM_000532.5(PCCB):c.1300-2A>C rs1553784684
NM_000532.5(PCCB):c.1300-4T>A rs1935372420
NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly) rs749210374
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe) rs1576360934
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) rs1935374974
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys) rs1455298516
NM_000532.5(PCCB):c.1356C>T (p.Asn452=) rs1455298516
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
NM_000532.5(PCCB):c.135C>A (p.Thr45=) rs1576397628
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs) rs2108239069
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs) rs1576397633
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.1386C>A (p.Val462=)
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
NM_000532.5(PCCB):c.138G>A (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr) rs774232001
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
NM_000532.5(PCCB):c.1395_1398+8del
NM_000532.5(PCCB):c.1398+11C>G
NM_000532.5(PCCB):c.1398+15C>T
NM_000532.5(PCCB):c.1398+16T>G
NM_000532.5(PCCB):c.1398+18T>C
NM_000532.5(PCCB):c.1398+1G>A
NM_000532.5(PCCB):c.1398+1G>C
NM_000532.5(PCCB):c.1398+2del rs2108239135
NM_000532.5(PCCB):c.1398+3G>A rs767511434
NM_000532.5(PCCB):c.1398+8C>T
NM_000532.5(PCCB):c.1398+9C>T rs2108239140
NM_000532.5(PCCB):c.1399-12_1399-10del
NM_000532.5(PCCB):c.1399-1G>C
NM_000532.5(PCCB):c.1399-5C>G
NM_000532.5(PCCB):c.1399-8A>G
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
NM_000532.5(PCCB):c.13T>C (p.Leu5=) rs1559991921
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala) rs2108240251
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr) rs775563122
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
NM_000532.5(PCCB):c.141G>A (p.Leu47=) rs1378807952
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
NM_000532.5(PCCB):c.1422del (p.His476fs) rs2108240287
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter) rs1553784921
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs) rs1576361811
NM_000532.5(PCCB):c.1446T>C (p.Ala482=) rs1233276940
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
NM_000532.5(PCCB):c.144G>C (p.Leu48=) rs1462411928
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.1461C>T (p.Ile487=) rs778676531
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
NM_000532.5(PCCB):c.1473C>T (p.Ala491=) rs1428860331
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu) rs1179000221
NM_000532.5(PCCB):c.1482C>T (p.Phe494=) rs1179000221
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
NM_000532.5(PCCB):c.1498+10T>C rs777201996
NM_000532.5(PCCB):c.1498+12T>C
NM_000532.5(PCCB):c.1498+12_1498+13del rs770922237
NM_000532.5(PCCB):c.1498+14G>A
NM_000532.5(PCCB):c.1498+15T>C
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.1498+8A>G rs2108240447
NM_000532.5(PCCB):c.1498+9C>T
NM_000532.5(PCCB):c.1499-10G>T
NM_000532.5(PCCB):c.1499-19C>T
NM_000532.5(PCCB):c.1499-1G>C rs1935478339
NM_000532.5(PCCB):c.1499-2A>G
NM_000532.5(PCCB):c.1499-4C>T
NM_000532.5(PCCB):c.1499-9C>T
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter) rs1292452485
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
NM_000532.5(PCCB):c.1515C>T (p.Ile505=) rs2108241650
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter) rs2108241656
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg) rs886058020
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del) rs1553785152
NM_000532.5(PCCB):c.152dup (p.Gln52fs) rs1941483338
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro) rs202247821
NM_000532.5(PCCB):c.1539C>G (p.Ala513=) rs2108241686
NM_000532.5(PCCB):c.1539C>T (p.Ala513=) rs2108241686
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.1542A>C (p.Arg514=) rs1337219671
NM_000532.5(PCCB):c.154_183+17del rs2108128051
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val) rs1935481576
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup) rs1553785169
NM_000532.5(PCCB):c.155_183+17del rs1941483558
NM_000532.5(PCCB):c.1564T>C (p.Leu522=) rs2108241717
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly) rs1560035695
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg) rs2108241736
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter) rs1935482553
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly) rs1284814283
NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu) rs1935483520
NM_000532.5(PCCB):c.159C>T (p.Arg53=) rs776900764
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn) rs759733016
NM_000532.5(PCCB):c.1611T>A (p.Ile537=) rs2108241808
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser) rs775930817
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe) rs561539546
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr) rs765790211
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp) rs377681768
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
NM_000532.5(PCCB):c.171G>T (p.Ala57=) rs1168077273
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn) rs2108128131
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu) rs767965814
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer) rs2108128163
NM_000532.5(PCCB):c.183+11_183+30dup rs1205510892
NM_000532.5(PCCB):c.183+12G>A
NM_000532.5(PCCB):c.183+13G>A
NM_000532.5(PCCB):c.183+14G>A
NM_000532.5(PCCB):c.183+15G>A
NM_000532.5(PCCB):c.183+15G>C
NM_000532.5(PCCB):c.183+15G>T
NM_000532.5(PCCB):c.183+15del
NM_000532.5(PCCB):c.183+16C>T
NM_000532.5(PCCB):c.183+17C>A
NM_000532.5(PCCB):c.183+18T>C
NM_000532.5(PCCB):c.183+19A>C
NM_000532.5(PCCB):c.183+19A>G rs2108128256
NM_000532.5(PCCB):c.183+19_183+22del rs2108128253
NM_000532.5(PCCB):c.183+1G>A rs398123460
NM_000532.5(PCCB):c.183+1G>C
NM_000532.5(PCCB):c.183+21_183+46del
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.183+3_183+6del
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.183+5G>C
NM_000532.5(PCCB):c.183+5G>T
NM_000532.5(PCCB):c.183+7C>T rs1039491317
NM_000532.5(PCCB):c.183+8C>T rs780042796
NM_000532.5(PCCB):c.183+9T>C rs2108128200
NM_000532.5(PCCB):c.183+9_183+28del
NM_000532.5(PCCB):c.184-12G>A
NM_000532.5(PCCB):c.184-16C>T
NM_000532.5(PCCB):c.184-1G>A rs886044246
NM_000532.5(PCCB):c.184-2A>C
NM_000532.5(PCCB):c.184-2A>G rs1553774015
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_000532.5(PCCB):c.184-5T>C
NM_000532.5(PCCB):c.184-7A>G rs1941659337
NM_000532.5(PCCB):c.184-7A>T rs1941659337
NM_000532.5(PCCB):c.184-8C>T
NM_000532.5(PCCB):c.184-8del
NM_000532.5(PCCB):c.184-9C>T rs2108137236
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala) rs886058017
NM_000532.5(PCCB):c.187_203del rs2108137253
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
NM_000532.5(PCCB):c.18G>C (p.Arg6=) rs2108127702
NM_000532.5(PCCB):c.18G>T (p.Arg6=) rs2108127702
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
NM_000532.5(PCCB):c.196del (p.Ala66fs) rs1553774018
NM_000532.5(PCCB):c.197C>T (p.Ala66Val) rs2108137275
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys) rs2108137296
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
NM_000532.5(PCCB):c.210C>T (p.Ile70=) rs1195573163
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
NM_000532.5(PCCB):c.216C>T (p.Leu72=) rs2108137325
NM_000532.5(PCCB):c.217T>C (p.Leu73=) rs1941660630
NM_000532.5(PCCB):c.21G>A (p.Val7=) rs1404763021
NM_000532.5(PCCB):c.21G>C (p.Val7=) rs1404763021
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr) rs2108137332
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
NM_000532.5(PCCB):c.231C>T (p.Gly77=) rs2108137338
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
NM_000532.5(PCCB):c.249C>T (p.Asp83=) rs1941661486
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
NM_000532.5(PCCB):c.274G>C (p.Asp92His) rs2108137411
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
NM_000532.5(PCCB):c.27G>C (p.Ala9=) rs1402404407
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter) rs202247817
NM_000532.5(PCCB):c.283A>G (p.Met95Val) rs1941662476
NM_000532.5(PCCB):c.292_294del (p.Asp98del) rs1307067547
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala) rs915881293
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del) rs763485353
NM_000532.5(PCCB):c.2T>C (p.Met1Thr) rs398123462
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
NM_000532.5(PCCB):c.303+13A>C
NM_000532.5(PCCB):c.303+15G>A
NM_000532.5(PCCB):c.303+18G>A
NM_000532.5(PCCB):c.303+19_303+21del rs1338554743
NM_000532.5(PCCB):c.303+1G>T rs1941662983
NM_000532.5(PCCB):c.303+7G>A rs747794871
NM_000532.5(PCCB):c.304-10T>C
NM_000532.5(PCCB):c.304-13A>G
NM_000532.5(PCCB):c.304-14C>T
NM_000532.5(PCCB):c.304-16del
NM_000532.5(PCCB):c.304-1G>A
NM_000532.5(PCCB):c.304-20T>C
NM_000532.5(PCCB):c.304-20T>G
NM_000532.5(PCCB):c.304-2A>G
NM_000532.5(PCCB):c.304-4G>T rs1178341565
NM_000532.5(PCCB):c.304-5G>C rs2108138190
NM_000532.5(PCCB):c.304-6T>C rs1941675458
NM_000532.5(PCCB):c.304-8dup
NM_000532.5(PCCB):c.304-9T>C rs772699339
NM_000532.5(PCCB):c.306T>C (p.Phe102=) rs770601332
NM_000532.5(PCCB):c.30C>A (p.Val10=) rs754303318
NM_000532.5(PCCB):c.30C>G (p.Val10=) rs754303318
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.321G>A (p.Val107=)
NM_000532.5(PCCB):c.324C>G (p.Val108=)
NM_000532.5(PCCB):c.327T>C (p.Thr109=) rs2108138226
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser) rs1941676220
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp) rs202247818
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser) rs2108138282
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu) rs1257439275
NM_000532.5(PCCB):c.360T>C (p.Tyr120=) rs1198278808
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser) rs1576402832
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile) rs1941677490
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
NM_000532.5(PCCB):c.371dup (p.Asp125fs)
NM_000532.5(PCCB):c.372+12C>T
NM_000532.5(PCCB):c.372+14C>G
NM_000532.5(PCCB):c.372+15C>A
NM_000532.5(PCCB):c.372+18T>C
NM_000532.5(PCCB):c.372+1G>A
NM_000532.5(PCCB):c.372+2T>C rs879253814
NM_000532.5(PCCB):c.372+4T>C
NM_000532.5(PCCB):c.373-1243G>A rs1184391176
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000532.5(PCCB):c.373-1271del rs1553774493
NM_000532.5(PCCB):c.373-1281G>A rs1553774486
NM_000532.5(PCCB):c.373-1297_373-1295del rs1553774476
NM_000532.5(PCCB):c.373-17T>A
NM_000532.5(PCCB):c.373-1G>C rs2108144374
NM_000532.5(PCCB):c.373-5T>C
NM_000532.5(PCCB):c.373-8C>G
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
NM_000532.5(PCCB):c.384T>G (p.Val128=) rs1169839469
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter) rs398123463
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
NM_000532.5(PCCB):c.387T>C (p.Phe129=) rs1576405957
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
NM_000532.5(PCCB):c.393C>T (p.Gly131=) rs2108144426
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
NM_000532.5(PCCB):c.397C>T (p.Leu133=) rs1941791843
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe) rs1215705998
NM_000532.5(PCCB):c.414C>G (p.Ala138=) rs781142631
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs) rs1941792521
NM_000532.5(PCCB):c.423C>A (p.Ile141=) rs2108144487
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
NM_000532.5(PCCB):c.429+11A>C
NM_000532.5(PCCB):c.429+15C>T
NM_000532.5(PCCB):c.429+17C>A
NM_000532.5(PCCB):c.429+17C>T
NM_000532.5(PCCB):c.429+1G>A rs1317017233
NM_000532.5(PCCB):c.429+20A>G rs1282306131
NM_000532.5(PCCB):c.429+20A>T
NM_000532.5(PCCB):c.429+3_429+6del rs1941792728
NM_000532.5(PCCB):c.429+8T>C rs2108144514
NM_000532.5(PCCB):c.429+9T>G
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
NM_000532.5(PCCB):c.42C>T (p.Leu14=) rs2108127783
NM_000532.5(PCCB):c.430-12C>T
NM_000532.5(PCCB):c.430-13T>G
NM_000532.5(PCCB):c.430-14C>A
NM_000532.5(PCCB):c.430-14C>G rs1320752306
NM_000532.5(PCCB):c.430-17T>C
NM_000532.5(PCCB):c.430-17T>G rs2108146563
NM_000532.5(PCCB):c.430-18A>T
NM_000532.5(PCCB):c.430-19G>A
NM_000532.5(PCCB):c.430-1G>A rs2108146606
NM_000532.5(PCCB):c.430-9C>T
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs) rs2108146615
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
NM_000532.5(PCCB):c.449del (p.Thr150fs)
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
NM_000532.5(PCCB):c.453G>A (p.Val151=)
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro) rs202247819
NM_000532.5(PCCB):c.459T>A (p.Ala153=) rs2108146658
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737
NM_000532.5(PCCB):c.471G>T (p.Gly157=) rs2108146680
NM_000532.5(PCCB):c.472C>G (p.Leu158Val) rs2108146685
NM_000532.5(PCCB):c.474G>A (p.Leu158=) rs2108146690
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys) rs765946213
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs) rs1553774884
NM_000532.5(PCCB):c.488del (p.Gly163fs)
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly) rs879253815
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
NM_000532.5(PCCB):c.49C>T (p.Leu17=) rs200185747
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter) rs1941842008
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp) rs1941842177
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer) rs2108146780
NM_000532.5(PCCB):c.519G>A (p.Leu173=) rs2108146783
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
NM_000532.5(PCCB):c.528T>C (p.Tyr176=) rs2108146812
NM_000532.5(PCCB):c.52del (p.Ala18fs)
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly) rs769481450
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
NM_000532.5(PCCB):c.541C>T (p.Leu181=) rs991870747
NM_000532.5(PCCB):c.543+10C>G rs2108146841
NM_000532.5(PCCB):c.543+11T>C
NM_000532.5(PCCB):c.543+17T>G
NM_000532.5(PCCB):c.543+19G>C
NM_000532.5(PCCB):c.543+1G>A rs2108146835
NM_000532.5(PCCB):c.543+1G>C
NM_000532.5(PCCB):c.543+2T>G
NM_000532.5(PCCB):c.543+8A>G
NM_000532.5(PCCB):c.544-10G>C
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr) rs2108181825
NM_000532.5(PCCB):c.553del (p.Thr185fs) rs886058018
NM_000532.5(PCCB):c.553dup (p.Thr185fs) rs777455573
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg) rs369612150
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
NM_000532.5(PCCB):c.565G>A (p.Val189Ile) rs2108181880
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu) rs1212475120
NM_000532.5(PCCB):c.579T>A (p.Ile193=) rs2108181900
NM_000532.5(PCCB):c.57C>T (p.Ser19=) rs1196995378
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser) rs777726717
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
NM_000532.5(PCCB):c.594C>G (p.Gly198=) rs1933215700
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg) rs1313783374
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
NM_000532.5(PCCB):c.597A>C (p.Pro199=) rs773799305
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter) rs759098964
NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs) rs1553777571
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.612C>T (p.Ala204=) rs201054265
NM_000532.5(PCCB):c.614T>A (p.Val205Asp) rs1303129574
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe) rs1553777582
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg) rs2108182082
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
NM_000532.5(PCCB):c.638del (p.Phe213fs) rs1196443543
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg) rs375740942
NM_000532.5(PCCB):c.642G>T (p.Thr214=) rs148056730
NM_000532.5(PCCB):c.649G>A (p.Val217Ile) rs2108182134
NM_000532.5(PCCB):c.649dup (p.Val217fs) rs796052021
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
NM_000532.5(PCCB):c.654+13G>A
NM_000532.5(PCCB):c.654+14del rs748846212
NM_000532.5(PCCB):c.654+16C>A
NM_000532.5(PCCB):c.654+17T>C
NM_000532.5(PCCB):c.654+18G>A
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.654+462A>G rs1576327011
NM_000532.5(PCCB):c.654+8A>T rs2108182157
NM_000532.5(PCCB):c.655-12C>G
NM_000532.5(PCCB):c.655-18G>A
NM_000532.5(PCCB):c.655-20C>G
NM_000532.5(PCCB):c.655-2A>G rs1553778865
NM_000532.5(PCCB):c.655-3C>G
NM_000532.5(PCCB):c.655-7del
NM_000532.5(PCCB):c.655-8T>C
NM_000532.5(PCCB):c.655-8dup
NM_000532.5(PCCB):c.655-9T>C
NM_000532.5(PCCB):c.663C>T (p.Ser221=) rs771455499
NM_000532.5(PCCB):c.667C>T (p.Leu223=) rs1290994455
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
NM_000532.5(PCCB):c.675C>T (p.Ile225=) rs2108197231
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.683del (p.Pro228fs) rs2108197244
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
NM_000532.5(PCCB):c.693G>T (p.Val231=)
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
NM_000532.5(PCCB):c.6G>A (p.Ala2=) rs769835356
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
NM_000532.5(PCCB):c.702C>G (p.Val234=)
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro) rs1021206121
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
NM_000532.5(PCCB):c.72G>A (p.Ala24=) rs1389353704
NM_000532.5(PCCB):c.72G>T (p.Ala24=) rs1389353704
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
NM_000532.5(PCCB):c.732dup (p.Gly245fs) rs2108197325
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del) rs1553778892
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
NM_000532.5(PCCB):c.737G>T (p.Gly246Val) rs2108197348
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.750C>T (p.His250=) rs1255224715
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
NM_000532.5(PCCB):c.751_752del (p.Thr251fs) rs2108197377
NM_000532.5(PCCB):c.753C>T (p.Thr251=) rs2108197383
NM_000532.5(PCCB):c.756_758del (p.Met253del)
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
NM_000532.5(PCCB):c.763+12dup
NM_000532.5(PCCB):c.763+16G>A
NM_000532.5(PCCB):c.763+1G>A rs1553778912
NM_000532.5(PCCB):c.763+2T>A rs1553778914
NM_000532.5(PCCB):c.763+3GA[4] rs1553778916
NM_000532.5(PCCB):c.763+7G>A
NM_000532.5(PCCB):c.763+8G>A rs2108197414
NM_000532.5(PCCB):c.763+8G>C rs2108197414
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.764-10G>A
NM_000532.5(PCCB):c.764-10G>C rs372617301
NM_000532.5(PCCB):c.764-11del
NM_000532.5(PCCB):c.764-16C>T
NM_000532.5(PCCB):c.764-17G>T
NM_000532.5(PCCB):c.764-18T>G
NM_000532.5(PCCB):c.764-5C>A rs1934010592
NM_000532.5(PCCB):c.764-7C>A
NM_000532.5(PCCB):c.764-7C>T
NM_000532.5(PCCB):c.765T>C (p.Gly255=) rs2108202688
NM_000532.5(PCCB):c.768G>A (p.Val256=) rs2108202690
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr) rs1197317905
NM_000532.5(PCCB):c.76dup (p.Arg26fs) rs1941479615
NM_000532.5(PCCB):c.774C>T (p.His258=) rs141615209
NM_000532.5(PCCB):c.77_183+30delinsCC
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly) rs1560017781
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp) rs774249198
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser) rs1234137372
NM_000532.5(PCCB):c.809del (p.Asn270fs)
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
NM_000532.5(PCCB):c.816G>C (p.Arg272=) rs762223074
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe) rs2108202806
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg) rs780837200
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
NM_000532.5(PCCB):c.838dup (p.Leu280fs) rs769968548
NM_000532.5(PCCB):c.839del (p.Leu280fs) rs1576337935
NM_000532.5(PCCB):c.840G>A (p.Leu280=) rs1934015229
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn) rs777434061
NM_000532.5(PCCB):c.852C>T (p.Asp284=) rs1298793935
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
NM_000532.5(PCCB):c.854del (p.Pro285fs)
NM_000532.5(PCCB):c.861C>A (p.Pro287=) rs779786032
NM_000532.5(PCCB):c.861C>T (p.Pro287=) rs779786032
NM_000532.5(PCCB):c.862G>A (p.Val288Ile) rs201984177
NM_000532.5(PCCB):c.864C>A (p.Val288=) rs1934016889
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser) rs771935604
NM_000532.5(PCCB):c.866G>A (p.Arg289His) rs532142254
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
NM_000532.5(PCCB):c.875A>G (p.His292Arg) rs2108202909
NM_000532.5(PCCB):c.876C>T (p.His292=) rs776893713
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) rs183013046
NM_000532.5(PCCB):c.884+10A>G rs2108202951
NM_000532.5(PCCB):c.884+11G>A
NM_000532.5(PCCB):c.884+14C>A
NM_000532.5(PCCB):c.884+16dup
NM_000532.5(PCCB):c.884+19C>G
NM_000532.5(PCCB):c.884+1G>A
NM_000532.5(PCCB):c.884+1G>C rs1553779458
NM_000532.5(PCCB):c.884+8G>A rs187345727
NM_000532.5(PCCB):c.884+8G>T rs187345727
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000532.5(PCCB):c.885-11dup
NM_000532.5(PCCB):c.885-17C>G
NM_000532.5(PCCB):c.885-18C>T rs1482092717
NM_000532.5(PCCB):c.885-2A>G rs1553780163
NM_000532.5(PCCB):c.885-3A>C
NM_000532.5(PCCB):c.885-6C>G
NM_000532.5(PCCB):c.885-6C>T
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu) rs147379583
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
NM_000532.5(PCCB):c.894G>A (p.Leu298=) rs746964439
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
NM_000532.5(PCCB):c.912A>G (p.Thr304=) rs778118663
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp) rs1934256655
NM_000532.5(PCCB):c.933C>G (p.Thr311=) rs776005016
NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe) rs2108127897
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser) rs148578333
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
NM_000532.5(PCCB):c.947T>G (p.Met316Arg) rs2108208811
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr) rs751136139
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
NM_000532.5(PCCB):c.951G>A (p.Val317=) rs1366112071
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
NM_000532.5(PCCB):c.957C>G (p.Ile319Met) rs868483670
NM_000532.5(PCCB):c.957C>T (p.Ile319=) rs868483670
NM_000532.5(PCCB):c.95C>T (p.Ala32Val) rs2108127907
NM_000532.5(PCCB):c.963C>T (p.His321=) rs754807564
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe) rs1034824113
NM_000532.5(PCCB):c.966+10A>G rs2108208861
NM_000532.5(PCCB):c.966+13T>C
NM_000532.5(PCCB):c.966+15T>C
NM_000532.5(PCCB):c.966+18T>A
NM_000532.5(PCCB):c.966+18T>C rs756231828
NM_000532.5(PCCB):c.966+18_966+21del
NM_000532.5(PCCB):c.966+19T>C rs1472403904
NM_000532.5(PCCB):c.966+1G>T rs1385850128
NM_000532.5(PCCB):c.966+20G>T
NM_000532.5(PCCB):c.966+5G>A rs1255284441
NM_000532.5(PCCB):c.966+8C>T
NM_000532.5(PCCB):c.967-10A>T
NM_000532.5(PCCB):c.967-18G>A rs2108226497
NM_000532.5(PCCB):c.967-2A>C rs1553782747
NM_000532.5(PCCB):c.967-4G>T rs2108226511
NM_000532.5(PCCB):c.967-5T>G rs1934917985
NM_000532.5(PCCB):c.967-7C>T
NM_000532.5(PCCB):c.967-8dup
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del) rs1353971489
NM_000532.5(PCCB):c.96C>A (p.Ala32=) rs2108127912
NM_000532.5(PCCB):c.96C>T (p.Ala32=) rs2108127912
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del) rs796052023
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter) rs2108226567
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
NM_000532.5(PCCB):c.9G>A (p.Ala3=) rs763025114
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala) rs776019250
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter) rs35135520
NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
NM_001001563.5(TIMM50):c.492+17C>G rs4803245
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile) rs2079507347
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile) rs2079508089
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser) rs797044891
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001195087.2(GGACT):c.*1774G>A rs41281124
NM_001195087.2(GGACT):c.*1811dup rs140492017
NM_001195087.2(GGACT):c.*1873T>C rs2088307404
NM_001243279.3(ACSF3):c.-8T>A rs1210097201
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs) rs2151453936
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=) rs1389252296
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter) rs1131691498
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=) rs376153659
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=) rs376153659
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=) rs899144976
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=) rs899144976
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp) rs761084443
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) rs387907120
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln) rs150487794
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=) rs749101905
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=) rs749101905
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=) rs1156341271
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=) rs775808630
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs) rs769183050
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=) rs750959933
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs) rs2151454690
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=) rs2151454775
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly) rs144907664
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=) rs2151454814
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro) rs1904713918
NM_001243279.3(ACSF3):c.1126+10C>T rs2151454938
NM_001243279.3(ACSF3):c.1126+18A>C
NM_001243279.3(ACSF3):c.1126+1G>A rs916461556
NM_001243279.3(ACSF3):c.1126+5G>A
NM_001243279.3(ACSF3):c.1126+5G>C
NM_001243279.3(ACSF3):c.1127-12C>G
NM_001243279.3(ACSF3):c.1127-12C>T
NM_001243279.3(ACSF3):c.1127-14C>A
NM_001243279.3(ACSF3):c.1127-14C>G
NM_001243279.3(ACSF3):c.1127-18G>A
NM_001243279.3(ACSF3):c.1127-2A>T
NM_001243279.3(ACSF3):c.1127-4G>A rs1327850217
NM_001243279.3(ACSF3):c.1127-7C>A rs761564953
NM_001243279.3(ACSF3):c.1127-9C>T rs536593488
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) rs138395741
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs)
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=)
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro) rs781134234
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=)
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=) rs2151478873
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=) rs2151405382
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs) rs2151478908
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs)
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=) rs1378994162
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=) rs371890371
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=)
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=) rs1906478952
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) rs1047268029
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=) rs781247397
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs)
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=) rs2151479090
NM_001243279.3(ACSF3):c.1231_1239+9del
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=) rs2151479113
NM_001243279.3(ACSF3):c.1239+10T>C rs2151479176
NM_001243279.3(ACSF3):c.1239+11C>A
NM_001243279.3(ACSF3):c.1239+11C>G
NM_001243279.3(ACSF3):c.1239+13G>A
NM_001243279.3(ACSF3):c.1239+14C>T
NM_001243279.3(ACSF3):c.1239+19G>A
NM_001243279.3(ACSF3):c.1239+1G>A
NM_001243279.3(ACSF3):c.1239+20G>C
NM_001243279.3(ACSF3):c.1239+2T>G
NM_001243279.3(ACSF3):c.1239+7C>T
NM_001243279.3(ACSF3):c.1239+8A>T rs746314037
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=) rs901883302
NM_001243279.3(ACSF3):c.1240-11A>C
NM_001243279.3(ACSF3):c.1240-15C>G
NM_001243279.3(ACSF3):c.1240-17T>C
NM_001243279.3(ACSF3):c.1240-18G>A
NM_001243279.3(ACSF3):c.1240-19T>C
NM_001243279.3(ACSF3):c.1240-1G>A
NM_001243279.3(ACSF3):c.1240-1G>C
NM_001243279.3(ACSF3):c.1240-20A>G
NM_001243279.3(ACSF3):c.1240-6C>T
NM_001243279.3(ACSF3):c.1240-7T>G
NM_001243279.3(ACSF3):c.1240-8C>T rs1598040505
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=)
NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=) rs3743984
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=) rs760524726
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=) rs2151520849
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=)
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs) rs775794698
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr) rs1057520194
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=) rs1237151757
NM_001243279.3(ACSF3):c.1293del (p.Val432fs)
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs) rs764608253
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=) rs2151521008
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=) rs375414491
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter) rs1909702747
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=) rs998246075
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs) rs2151521127
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=) rs1444580425
NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=) rs2151521187
NM_001243279.3(ACSF3):c.134del (p.Pro45fs) rs2151405469
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=)
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=) rs775551806
NM_001243279.3(ACSF3):c.1366+11G>C
NM_001243279.3(ACSF3):c.1366+11_1366+16del
NM_001243279.3(ACSF3):c.1366+15C>T
NM_001243279.3(ACSF3):c.1366+16A>G
NM_001243279.3(ACSF3):c.1366+17T>C
NM_001243279.3(ACSF3):c.1366+1G>A
NM_001243279.3(ACSF3):c.1366+1G>T
NM_001243279.3(ACSF3):c.1366+9C>G rs2151521275
NM_001243279.3(ACSF3):c.1366+9C>T rs2151521275
NM_001243279.3(ACSF3):c.1367-11C>T
NM_001243279.3(ACSF3):c.1367-13C>T
NM_001243279.3(ACSF3):c.1367-15G>T
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.1367-2_1367-1del
NM_001243279.3(ACSF3):c.1367-36_1367-7del rs2151562216
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692
NM_001243279.3(ACSF3):c.1367-4T>A rs2151562350
NM_001243279.3(ACSF3):c.1367-8T>A
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=) rs2151562365
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=) rs2151562365
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs) rs2151405491
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) rs751342087
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=) rs554032555
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=) rs200661983
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=) rs1451312853
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter) rs1912700120
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=) rs1912703262
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs) rs1912702795
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=)
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=)
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=)
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=) rs2151405540
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=) rs2151562576
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=) rs2151562625
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=)
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) rs1064793662
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=) rs2151562665
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=) rs377487769
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=)
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=)
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu) rs377596983
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=) rs2151405575
NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=)
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)
NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val) rs1187720594
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
NM_001243279.3(ACSF3):c.1501+12G>A
NM_001243279.3(ACSF3):c.1501+18G>A
NM_001243279.3(ACSF3):c.1501+1G>A
NM_001243279.3(ACSF3):c.1501+1G>T
NM_001243279.3(ACSF3):c.1501+20C>T
NM_001243279.3(ACSF3):c.1501+4C>T
NM_001243279.3(ACSF3):c.1502-11_1502-9del rs147884845
NM_001243279.3(ACSF3):c.1502-13C>T
NM_001243279.3(ACSF3):c.1502-146A>G rs4302032
NM_001243279.3(ACSF3):c.1502-1G>C
NM_001243279.3(ACSF3):c.1502-20A>G
NM_001243279.3(ACSF3):c.1502-6C>A
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=)
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=)
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=)
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=) rs1012271385
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu) rs1450563045
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=) rs746953848
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=)
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=)
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs) rs745684193
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=)
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)
NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs)
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter) rs767958353
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=) rs753356664
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=) rs778486871
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=) rs778486871
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=) rs1912883419
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=)
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs) rs1350227206
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter) rs779820462
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser) rs779820462
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs) rs1912887899
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=)
NM_001243279.3(ACSF3):c.1613+16del
NM_001243279.3(ACSF3):c.1613+17C>T
NM_001243279.3(ACSF3):c.1613+18G>A
NM_001243279.3(ACSF3):c.1613+20G>T
NM_001243279.3(ACSF3):c.1613+2T>C rs2151564932
NM_001243279.3(ACSF3):c.1613+7C>T rs1179755069
NM_001243279.3(ACSF3):c.1613+9G>T rs974191447
NM_001243279.3(ACSF3):c.1614-16G>A
NM_001243279.3(ACSF3):c.1614-19G>A
NM_001243279.3(ACSF3):c.1614-2A>G
NM_001243279.3(ACSF3):c.1614-7T>C
NM_001243279.3(ACSF3):c.1614-8C>G rs375091095
NM_001243279.3(ACSF3):c.1614-8C>T rs375091095
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=)
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu) rs570670205
NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs)
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs) rs1914445437
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=)
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=)
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=)
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter) rs139520739
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=)
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=)
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=)
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=) rs1245847525
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln) rs140328142
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=) rs767036317
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=) rs2151586215
NM_001243279.3(ACSF3):c.16del (p.Val6fs) rs1338859307
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=)
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=)
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=) rs753754672
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly) rs1448355025
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
NM_001243279.3(ACSF3):c.1716C>T (p.His572=)
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) rs796051924
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=) rs1914461577
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=)
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=) rs1914464370
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=) rs2151586302
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=)
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs) rs1776373606
NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs)
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=)
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=) rs1405537973
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=) rs1975219207
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs)
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=)
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=) rs2151406106
NM_001243279.3(ACSF3):c.238del (p.Gln80fs)
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys) rs373476048
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=)
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=)
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=)
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=)
NM_001243279.3(ACSF3):c.261del (p.Cys88fs) rs775569136
NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) rs530503915
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=) rs2151406487
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter) rs1975233179
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser) rs1299639090
NM_001243279.3(ACSF3):c.294C>T (p.Val98=)
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs)
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile) rs1378197369
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser) rs2151406892
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu) rs781163359
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=)
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=) rs1267933456
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=) rs1446396475
NM_001243279.3(ACSF3):c.363G>A (p.Val121=)
NM_001243279.3(ACSF3):c.369C>G (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg) rs1292276846
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=) rs368192538
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=)
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=) rs370968781
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His) rs370968781
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs)
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter) rs752534981
NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter) rs1313088429
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=)
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
NM_001243279.3(ACSF3):c.435G>A (p.Val145=) rs759185741
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) rs1381436509
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=) rs1373108224
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=)
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=) rs147899198
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=)
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=)
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=)
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=) rs757199694
NM_001243279.3(ACSF3):c.477G>C (p.Val159=)
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=) rs758530787
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=) rs2151408219
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu) rs747228733
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=)
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=) rs748625786
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=) rs1403364770
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=) rs866824182
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) rs1567685421
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=)
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=) rs2151405049
NM_001243279.3(ACSF3):c.555C>G (p.Val185=) rs1260446910
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) rs376098216
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=)
NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=) rs1307415970
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=) rs1307415970
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=)
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) rs1366314967
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=) rs2151409119
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=) rs1259550164
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) rs387907121
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=)
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=)
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln) rs538548478
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs) rs1567685802
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.653del (p.Asn218fs)
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)
NM_001243279.3(ACSF3):c.666+10G>A rs752914229
NM_001243279.3(ACSF3):c.666+10G>C
NM_001243279.3(ACSF3):c.666+10G>T
NM_001243279.3(ACSF3):c.666+12C>T
NM_001243279.3(ACSF3):c.666+16C>T
NM_001243279.3(ACSF3):c.666+17G>A
NM_001243279.3(ACSF3):c.666+195G>A rs6500530
NM_001243279.3(ACSF3):c.666+19C>T
NM_001243279.3(ACSF3):c.666+1G>T
NM_001243279.3(ACSF3):c.667-10T>C
NM_001243279.3(ACSF3):c.667-11G>A
NM_001243279.3(ACSF3):c.667-14C>G
NM_001243279.3(ACSF3):c.667-14C>T
NM_001243279.3(ACSF3):c.667-19G>A
NM_001243279.3(ACSF3):c.667-1G>T
NM_001243279.3(ACSF3):c.667-2A>G
NM_001243279.3(ACSF3):c.667-4G>A
NM_001243279.3(ACSF3):c.667-6C>G
NM_001243279.3(ACSF3):c.667-9C>A
NM_001243279.3(ACSF3):c.667-9C>G
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.669G>A (p.Val223=) rs772127402
NM_001243279.3(ACSF3):c.669G>T (p.Val223=) rs772127402
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=) rs751461445
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) rs1597898076
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) rs1597898108
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter) rs1432097143
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr) rs765454020
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=)
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=)
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=)
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) rs1597898369
NM_001243279.3(ACSF3):c.723G>T (p.Val241=)
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=) rs768799062
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=) rs752720474
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=)
NM_001243279.3(ACSF3):c.735C>T (p.His245=) rs1397465454
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=) rs1419853894
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)
NM_001243279.3(ACSF3):c.750G>T (p.Val250=) rs1045898328
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs) rs1975494455
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=) rs765643653
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=) rs931176162
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=) rs2151416739
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=)
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=) rs750139721
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=)
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala) rs1277612080
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=) rs2151416786
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=)
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=) rs2151416808
NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=)
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) rs767946490
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=)
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter) rs2151416957
NM_001243279.3(ACSF3):c.822+10G>A
NM_001243279.3(ACSF3):c.822+10G>C rs771232327
NM_001243279.3(ACSF3):c.822+12_822+61del
NM_001243279.3(ACSF3):c.822+12dup
NM_001243279.3(ACSF3):c.822+15G>A
NM_001243279.3(ACSF3):c.822+16G>C
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.823-18G>T
NM_001243279.3(ACSF3):c.823-19T>C
NM_001243279.3(ACSF3):c.823-1G>A
NM_001243279.3(ACSF3):c.823-4G>A rs558325262
NM_001243279.3(ACSF3):c.823-7T>A
NM_001243279.3(ACSF3):c.823-8C>G rs776024101
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) rs570233664
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=)
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=)
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=)
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=) rs1597942772
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=)
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=) rs1378884062
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=)
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=)
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=)
NM_001243279.3(ACSF3):c.867C>A (p.Val289=)
NM_001243279.3(ACSF3):c.867C>T (p.Val289=) rs1246005897
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=) rs2151444679
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=)
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=)
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) rs2151444797
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=) rs2151444809
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=) rs1976764124
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=)
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe) rs1975195262
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=) rs770510501
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)
NM_001243279.3(ACSF3):c.953del (p.Arg318fs)
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=) rs1165098721
NM_001243279.3(ACSF3):c.967del (p.Glu323fs)
NM_001243279.3(ACSF3):c.973del (p.Ile325fs)
NM_001243279.3(ACSF3):c.977+18A>G
NM_001243279.3(ACSF3):c.977+1G>A
NM_001243279.3(ACSF3):c.977+1G>C rs141056046
NM_001243279.3(ACSF3):c.977+1G>T
NM_001243279.3(ACSF3):c.978-19C>G
NM_001243279.3(ACSF3):c.978-19C>T
NM_001243279.3(ACSF3):c.978-20C>T
NM_001243279.3(ACSF3):c.978-2A>G
NM_001243279.3(ACSF3):c.978-6G>T rs377217672
NM_001243279.3(ACSF3):c.978-83C>G rs9940965
NM_001243279.3(ACSF3):c.978-8C>T
NM_001243279.3(ACSF3):c.987C>A (p.Val329=) rs1426240105
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=) rs2151453873
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=) rs2151453925
NM_001243279.3(ACSF3):c.[1385A>C;1394_1411del]
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys) rs2135512797
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=) rs1949786030
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=) rs1949785389
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1066+9del rs1204558796
NM_001258392.3(CLPB):c.1067-11T>C
NM_001258392.3(CLPB):c.1067-20T>A
NM_001258392.3(CLPB):c.1067-20T>C
NM_001258392.3(CLPB):c.1067-3T>C
NM_001258392.3(CLPB):c.1067-9T>C rs372848873
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu) rs773901608
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
NM_001258392.3(CLPB):c.1122+11G>A
NM_001258392.3(CLPB):c.1122+16T>G
NM_001258392.3(CLPB):c.1123-13T>C
NM_001258392.3(CLPB):c.1123-18T>C
NM_001258392.3(CLPB):c.1123-3C>A
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=) rs890501416
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=) rs267603176
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys) rs1949671839
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln) rs202009794
NM_001258392.3(CLPB):c.1167+10G>A
NM_001258392.3(CLPB):c.1167+3G>T
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1167+9T>C
NM_001258392.3(CLPB):c.1168-3C>G
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu) rs2135500838
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala) rs138691107
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val) rs1590764241
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe) rs758030499
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.1329+1G>A rs2135500473
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly) rs1365431764
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp) rs780612425
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) rs1949536469
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu) rs2135487981
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val) rs1856650498
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys) rs143522576
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=) rs1949534031
NM_001258392.3(CLPB):c.1486+7C>T
NM_001258392.3(CLPB):c.1486+8G>A
NM_001258392.3(CLPB):c.1487-17_1487-16del
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His) rs918777173
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile) rs2135486440
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His) rs577566573
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser) rs200812003
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile) rs200812003
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu) rs778078736
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val) rs1949516441
NM_001258392.3(CLPB):c.1560+19C>T
NM_001258392.3(CLPB):c.1560+2_1560+5del
NM_001258392.3(CLPB):c.1561-12C>G
NM_001258392.3(CLPB):c.1561-18_1561-12del rs1166987571
NM_001258392.3(CLPB):c.1561-20C>T
NM_001258392.3(CLPB):c.1561-7C>T
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg) rs2135485868
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) rs1949512456
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser) rs150857620
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp) rs1430716011
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=) rs1949510719
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile) rs1949509947
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn) rs2135485638
NM_001258392.3(CLPB):c.1680+2dup
NM_001258392.3(CLPB):c.1680+6A>C rs1949509457
NM_001258392.3(CLPB):c.1680+9G>A
NM_001258392.3(CLPB):c.1681-17T>C
NM_001258392.3(CLPB):c.1681-1G>A
NM_001258392.3(CLPB):c.1681-3C>T
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro) rs765245566
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln) rs2135484836
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys) rs2135484821
NM_001258392.3(CLPB):c.1785+13G>A
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys) rs369227883
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val) rs767517671
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val) rs767839493
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala) rs759500860
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val) rs755357754
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln) rs1949489503
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=) rs776395544
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=) rs2135483654
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg) rs368496010
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter) rs368496010
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly) rs2135483452
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe) rs372096809
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs) rs1362604874
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=) rs2135483266
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp) rs1949484806
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu) rs746191886
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
NM_001258392.3(CLPB):c.213G>A (p.Gly71=) rs1856645490
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
NM_001258392.3(CLPB):c.221dup (p.Gly76fs) rs2135181870
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg) rs1293473561
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del) rs1565108155
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val) rs2135181668
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly) rs1856636073
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
NM_001258392.3(CLPB):c.343A>G (p.Met115Val) rs755190312
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val) rs563749368
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg) rs745934487
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=) rs1856631048
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
NM_001258392.3(CLPB):c.403+13T>G
NM_001258392.3(CLPB):c.403+14C>T
NM_001258392.3(CLPB):c.403+15T>G
NM_001258392.3(CLPB):c.403+6T>C rs944669671
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
NM_001258392.3(CLPB):c.404-12dup
NM_001258392.3(CLPB):c.404-14C>T
NM_001258392.3(CLPB):c.404-15C>G
NM_001258392.3(CLPB):c.404-17G>A
NM_001258392.3(CLPB):c.404-17G>C
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro) rs1384482038
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu) rs1194145425
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val) rs1219520636
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
NM_001258392.3(CLPB):c.447A>G (p.Glu149=) rs1856508277
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs) rs1856508068
NM_001258392.3(CLPB):c.450C>A (p.Val150=) rs2135168122
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
NM_001258392.3(CLPB):c.455+1G>A rs1856507751
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg) rs2135083426
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile)
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
NM_001258392.3(CLPB):c.513C>G (p.Leu171=) rs1017640223
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
NM_001258392.3(CLPB):c.528C>A (p.Ile176=) rs766521266
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
NM_001258392.3(CLPB):c.542+13C>A
NM_001258392.3(CLPB):c.542+15T>C
NM_001258392.3(CLPB):c.542+18A>G
NM_001258392.3(CLPB):c.546G>A (p.Val182=) rs1854871823
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
NM_001258392.3(CLPB):c.555C>T (p.Val185=) rs770534948
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln) rs1856655686
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu) rs2135677270
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
NM_001258392.3(CLPB):c.646+14G>C
NM_001258392.3(CLPB):c.646+7247C>T
NM_001258392.3(CLPB):c.646+7257G>A
NM_001258392.3(CLPB):c.646+7367del
NM_001258392.3(CLPB):c.646+7369C>T
NM_001258392.3(CLPB):c.646+7372T>C
NM_001258392.3(CLPB):c.646+7375A>G
NM_001258392.3(CLPB):c.646+7G>A rs1854866433
NM_001258392.3(CLPB):c.647-10G>A rs2135614152
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
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.733C>G (p.Leu245Val)
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys) rs146762466
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.775+14T>C
NM_001258392.3(CLPB):c.775+1G>A
NM_001258392.3(CLPB):c.776-10C>A rs141271919
NM_001258392.3(CLPB):c.776-13C>A
NM_001258392.3(CLPB):c.776-17C>T rs2135549983
NM_001258392.3(CLPB):c.776-5G>T rs1253919639
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val) rs1390365704
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg) rs757880862
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
NM_001258392.3(CLPB):c.837G>A (p.Gly279=) rs2135549683
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
NM_001258392.3(CLPB):c.843G>A (p.Val281=) rs2135549653
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile) rs1318523407
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001258392.3(CLPB):c.873+1G>A rs974377052
NM_001258392.3(CLPB):c.874-10C>G
NM_001258392.3(CLPB):c.874-7C>G
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys) rs1949961706
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro) rs547532550
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly) rs745539947
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val) rs144712077
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val) rs941057831
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.988+14A>T rs2135527417
NM_001258392.3(CLPB):c.988+16A>G
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr) rs2135527446
NM_001258392.3(CLPB):c.989-4G>A
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly) rs144942416
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr) rs2135512844
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
NM_001258392.3(CLPB):c.99C>A (p.Ser33=) rs1277330273
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
NM_001330540.2(MMACHC):c.-90del
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1614dup rs886057068
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*2647T>A rs2089366675
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2952CT[1] rs886057061
NM_001352514.2(HLCS):c.*3050A>G rs2089352875
NM_001352514.2(HLCS):c.*305T>C rs2089455426
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A rs552016201
NM_001352514.2(HLCS):c.*3175A>G rs2089348881
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter) rs1601803431
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=) rs2066910824
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter) rs148324626
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=) rs765699943
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=) rs1459880908
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=) rs2146525599
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=) rs768927843
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=) rs780469041
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=) rs1450990152
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=) rs1199413324
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter) rs1481968221
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=) rs2066903072
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile) rs538157231
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro) rs119103227
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter) rs2146525207
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=) rs1057523540
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=) rs979308593
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=) rs979308593
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln) rs1601802008
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=) rs535891229
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter) rs2066894484
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=) rs757706257
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=) rs2146524449
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=) rs2146524399
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=) rs2146524204
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=) rs2066890502
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=) rs139902499
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=) rs2146523893
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=) rs756934917
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=) rs771883068
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs) rs1555955827
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter) rs2066882139
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg) rs899013389
NM_001352514.2(HLCS):c.1437+10G>A
NM_001352514.2(HLCS):c.1437+13G>T
NM_001352514.2(HLCS):c.1437+14C>T
NM_001352514.2(HLCS):c.1437+15A>G
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1437+20T>A
NM_001352514.2(HLCS):c.1437+8G>A rs777565665
NM_001352514.2(HLCS):c.1438-17C>T
NM_001352514.2(HLCS):c.1438-6C>T
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu) rs1198548955
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
NM_001352514.2(HLCS):c.1473G>T (p.Val491=) rs367611748
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=) rs2066584824
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter) rs1601779091
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys) rs747688148
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer) rs1288789420
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=) rs138442090
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
NM_001352514.2(HLCS):c.1552del (p.Gly519fs) rs1569206815
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
NM_001352514.2(HLCS):c.1620+15C>G
NM_001352514.2(HLCS):c.1620+17G>A
NM_001352514.2(HLCS):c.1620+1G>A rs1555951858
NM_001352514.2(HLCS):c.1620+7T>G
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1620+8G>A rs1569206652
NM_001352514.2(HLCS):c.1620+9T>G rs2146492738
NM_001352514.2(HLCS):c.1620+9del
NM_001352514.2(HLCS):c.1621-11T>C
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1621-19T>A
NM_001352514.2(HLCS):c.1621-1G>C rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1621-8T>C
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=) rs2146336527
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs) rs2146336516
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=) rs1344897387
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=) rs2146336458
NM_001352514.2(HLCS):c.1634del (p.Pro545fs) rs2146336447
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=) rs2146336432
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter) rs2065045000
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=) rs1366041798
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter) rs1342457304
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg) rs2146336242
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=) rs771923409
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=) rs2146336131
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr) rs770873445
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=) rs141905941
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=) rs138209330
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=) rs2146335962
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs) rs2065041493
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer) rs1555930523
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter) rs148814769
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=) rs2146335640
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter) rs2065038117
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=) rs771694153
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr) rs987805504
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter) rs973578825
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu) rs973578825
NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)
NM_001352514.2(HLCS):c.1794C>T (p.Phe598=) rs1601665712
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=) rs2146335404
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
NM_001352514.2(HLCS):c.1800A>G (p.Leu600=)
NM_001352514.2(HLCS):c.1806C>T (p.Ile602=) rs1240730503
NM_001352514.2(HLCS):c.1812C>T (p.Arg604=)
NM_001352514.2(HLCS):c.1819C>T (p.Leu607=)
NM_001352514.2(HLCS):c.1827C>T (p.Thr609=)
NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
NM_001352514.2(HLCS):c.1833G>A (p.Gln611=)
NM_001352514.2(HLCS):c.1834T>C (p.Leu612=)
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=) rs760230537
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
NM_001352514.2(HLCS):c.1866C>G (p.Thr622=) rs2146334911
NM_001352514.2(HLCS):c.1869C>G (p.Pro623=) rs769822408
NM_001352514.2(HLCS):c.1869C>T (p.Pro623=) rs769822408
NM_001352514.2(HLCS):c.1869del (p.Thr624fs) rs2065031709
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
NM_001352514.2(HLCS):c.1881T>C (p.Arg627=) rs2146334744
NM_001352514.2(HLCS):c.1884C>T (p.Leu628=)
NM_001352514.2(HLCS):c.1885C>T (p.Leu629=)
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1892+8G>T rs2065029914
NM_001352514.2(HLCS):c.1893-11C>G
NM_001352514.2(HLCS):c.1893-14C>T
NM_001352514.2(HLCS):c.1893-22_1893-14dup
NM_001352514.2(HLCS):c.1893-5G>C
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser) rs2145777265
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile) rs2145777174
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val) rs1173267062
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=) rs370347318
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=) rs1031377645
NM_001352514.2(HLCS):c.1950C>A (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=) rs201813658
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter) rs2090069178
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.1960+1G>A rs2090068896
NM_001352514.2(HLCS):c.1960+7C>T
NM_001352514.2(HLCS):c.1960+8A>G rs2145776793
NM_001352514.2(HLCS):c.1960+8A>T
NM_001352514.2(HLCS):c.1960+9T>C
NM_001352514.2(HLCS):c.1961-12C>A
NM_001352514.2(HLCS):c.1961-12C>T
NM_001352514.2(HLCS):c.1961-2A>G
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
NM_001352514.2(HLCS):c.1983G>C (p.Leu661=)
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=) rs1601141038
NM_001352514.2(HLCS):c.2029C>T (p.Leu677=)
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
NM_001352514.2(HLCS):c.2037C>A (p.Ser679=) rs2145768209
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=) rs2145768179
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter) rs1324486146
NM_001352514.2(HLCS):c.2046A>G (p.Gly682=)
NM_001352514.2(HLCS):c.2049G>A (p.Gln683=)
NM_001352514.2(HLCS):c.2055C>A (p.Ile685=)
NM_001352514.2(HLCS):c.2055C>T (p.Ile685=) rs1568975308
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
NM_001352514.2(HLCS):c.2064C>T (p.Val688=)
NM_001352514.2(HLCS):c.2067G>A (p.Gln689=) rs2089984668
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=) rs755088995
NM_001352514.2(HLCS):c.2079C>T (p.Ser693=)
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
NM_001352514.2(HLCS):c.2088C>A (p.Val696=)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2091G>A (p.Val697=) rs773627772
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=) rs762221640
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2121+10G>A rs2145767655
NM_001352514.2(HLCS):c.2121+14A>G
NM_001352514.2(HLCS):c.2121+16T>C
NM_001352514.2(HLCS):c.2121+8C>A rs2089982138
NM_001352514.2(HLCS):c.2121+8C>T rs2089982138
NM_001352514.2(HLCS):c.2121+9A>G
NM_001352514.2(HLCS):c.2122-13G>A
NM_001352514.2(HLCS):c.2122-19T>C
NM_001352514.2(HLCS):c.2122-6C>T rs764724435
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
NM_001352514.2(HLCS):c.2134C>A (p.Arg712=)
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
NM_001352514.2(HLCS):c.2190T>C (p.Val730=) rs2089756578
NM_001352514.2(HLCS):c.2196T>A (p.Val732=) rs2145744309
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter) rs2089755918
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala) rs2089755704
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=) rs2145744246
NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)
NM_001352514.2(HLCS):c.2205A>T (p.Thr735=)
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=) rs764487201
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
NM_001352514.2(HLCS):c.2220A>G (p.Thr740=) rs2145744147
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
NM_001352514.2(HLCS):c.2236+13A>T
NM_001352514.2(HLCS):c.2236+16C>T
NM_001352514.2(HLCS):c.2236+17T>C
NM_001352514.2(HLCS):c.2236+20C>A
NM_001352514.2(HLCS):c.2237-19A>G
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del rs2145732111
NM_001352514.2(HLCS):c.2237-6G>A rs201208730
NM_001352514.2(HLCS):c.2237-7dup
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=) rs2145732165
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=) rs760492059
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=) rs2145731986
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs) rs1555882068
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn) rs2145731806
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
NM_001352514.2(HLCS):c.2313C>T (p.His771=) rs1376040224
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=) rs2123576595
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=) rs2123576546
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=) rs747302103
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=) rs2123575791
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=) rs2123575709
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=) rs763530346
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=) rs2089605319
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly) rs755620019
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=) rs766430268
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=) rs762915830
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=) rs762915830
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2450+1_2450+2del rs2089602804
NM_001352514.2(HLCS):c.2450+20C>T rs2123574898
NM_001352514.2(HLCS):c.2450+2T>A
NM_001352514.2(HLCS):c.2450+4A>G
NM_001352514.2(HLCS):c.2450+8C>T rs2123575052
NM_001352514.2(HLCS):c.2450+9T>C
NM_001352514.2(HLCS):c.2451-13T>C rs2123556883
NM_001352514.2(HLCS):c.2451-15G>C
NM_001352514.2(HLCS):c.2451-18G>A
NM_001352514.2(HLCS):c.2451-19C>A
NM_001352514.2(HLCS):c.2451-19C>G
NM_001352514.2(HLCS):c.2451-4del
NM_001352514.2(HLCS):c.2451-8C>T rs373177254
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=) rs2123556668
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=) rs2089478015
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser) rs376898721
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=) rs2123556491
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala) rs2123556320
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=) rs147256659
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=) rs768097284
NM_001352514.2(HLCS):c.2547C>T (p.Gly849=)
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
NM_001352514.2(HLCS):c.2565C>T (p.His855=)
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
NM_001352514.2(HLCS):c.331-1G>C
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly) rs761490181
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
NM_001352514.2(HLCS):c.471A>C (p.Gly157=) rs2146535946
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) rs886057079
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala) rs2146535803
NM_001352514.2(HLCS):c.493+10T>C rs1601811088
NM_001352514.2(HLCS):c.493+12T>C
NM_001352514.2(HLCS):c.493+15A>G
NM_001352514.2(HLCS):c.493+18A>C
NM_001352514.2(HLCS):c.493+20G>A
NM_001352514.2(HLCS):c.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-17T>A
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-25TC[3]
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.494-25TC[6] rs146532042
NM_001352514.2(HLCS):c.494-2A>T
NM_001352514.2(HLCS):c.494-7G>A
NM_001352514.2(HLCS):c.494-7G>C rs1437015433
NM_001352514.2(HLCS):c.494-8T>C rs778287214
NM_001352514.2(HLCS):c.494-9A>T
NM_001352514.2(HLCS):c.495G>A (p.Ser165=) rs1254077652
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
NM_001352514.2(HLCS):c.504G>A (p.Leu168=) rs2066944309
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=) rs752570659
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter) rs2066942649
NM_001352514.2(HLCS):c.537G>A (p.Gln179=) rs2146529501
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter) rs2066942076
NM_001352514.2(HLCS):c.546C>T (p.Asn182=)
NM_001352514.2(HLCS):c.555C>T (p.Ala185=)
NM_001352514.2(HLCS):c.567G>A (p.Glu189=) rs61732504
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer) rs1064796014
NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
NM_001352514.2(HLCS):c.579A>G (p.Glu193=) rs2146529125
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu) rs565756796
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=) rs2066937541
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys) rs2066934793
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter) rs1555957134
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs) rs776431253
NM_001352514.2(HLCS):c.678T>C (p.Ser226=) rs2146528574
NM_001352514.2(HLCS):c.684T>G (p.Ser228=) rs2146528551
NM_001352514.2(HLCS):c.687G>C (p.Gly229=) rs2146528539
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter) rs1569218416
NM_001352514.2(HLCS):c.702G>A (p.Gly234=) rs373193883
NM_001352514.2(HLCS):c.711C>T (p.Asp237=) rs754558925
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
NM_001352514.2(HLCS):c.727del (p.Val243fs) rs2146528200
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys) rs765150200
NM_001352514.2(HLCS):c.741C>T (p.His247=) rs761937078
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
NM_001352514.2(HLCS):c.759C>T (p.Cys253=) rs751148714
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter) rs937407062
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe) rs2066926744
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
NM_001352514.2(HLCS):c.783C>T (p.Asn261=) rs1601805290
NM_001352514.2(HLCS):c.792T>C (p.Ile264=) rs775055913
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
NM_001352514.2(HLCS):c.804G>A (p.Lys268=) rs1228716242
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
NM_001352514.2(HLCS):c.816C>G (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
NM_001352514.2(HLCS):c.828A>G (p.Pro276=) rs2066924267
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
NM_001352514.2(HLCS):c.834T>C (p.Leu278=) rs2146527642
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter) rs779907293
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter) rs144572349
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
NM_001352514.2(HLCS):c.863del (p.Ser288fs) rs1015594025
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter) rs760029192
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile) rs912685138
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
NM_001352514.2(HLCS):c.915G>A (p.Thr305=) rs1000269533
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
NM_001352514.2(HLCS):c.933C>T (p.Ile311=) rs1057523220
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) rs778638155
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=) rs1232499269
NM_001352514.2(HLCS):c.945G>T (p.Val315=) rs2146526787
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
NM_001352514.2(HLCS):c.951C>G (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
NM_001352514.2(HLCS):c.963A>G (p.Glu321=) rs767893846
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro) rs368754318
NM_001352514.2(HLCS):c.990G>A (p.Arg330=) rs771741236
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=) rs1245601073
NM_001352514.2(HLCS):c.999G>T (p.Leu333=) rs1324605554
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-16-19T>C
NM_001370658.1(BTD):c.-16-2A>G
NM_001370658.1(BTD):c.-16-5T>C
NM_001370658.1(BTD):c.-16-7A>G
NM_001370658.1(BTD):c.-16-7A>T
NM_001370658.1(BTD):c.-16-7del
NM_001370658.1(BTD):c.-17+12_-17+27dup
NM_001370658.1(BTD):c.-17+13C>G
NM_001370658.1(BTD):c.-17+16G>A
NM_001370658.1(BTD):c.-17+16G>C
NM_001370658.1(BTD):c.-17+19_-17+39del rs1559571027
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+20C>A
NM_001370658.1(BTD):c.-17+20_-17+40dup
NM_001370658.1(BTD):c.-17+23_-17+27dup rs775790954
NM_001370658.1(BTD):c.-17+7A>G
NM_001370658.1(BTD):c.-17+7A>T
NM_001370658.1(BTD):c.-17+8G>C
NM_001370658.1(BTD):c.-17_-17+3del rs1050514843
NM_001370658.1(BTD):c.-18A>G
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.-18del rs2064260290
NM_001370658.1(BTD):c.-1T>C
NM_001370658.1(BTD):c.-24A>T
NM_001370658.1(BTD):c.-28C>T rs2125312689
NM_001370658.1(BTD):c.-45A>T rs540641302
NM_001370658.1(BTD):c.-51G>T
NM_001370658.1(BTD):c.-58G>A rs1553646827
NM_001370658.1(BTD):c.-59T>C rs768258310
NM_001370658.1(BTD):c.-60A>G rs1553646820
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val) rs1204990361
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter) rs747548016
NM_001370658.1(BTD):c.1026A>G (p.Leu342=) rs1367244547
NM_001370658.1(BTD):c.1030dup (p.Ile344fs)
NM_001370658.1(BTD):c.1035G>A (p.Leu345=) rs768786956
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
NM_001370658.1(BTD):c.1041C>A (p.Gly347=) rs142421934
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1068G>A (p.Gln356=) rs891263072
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter) rs1057516252
NM_001370658.1(BTD):c.1076A>G (p.His359Arg) rs763540316
NM_001370658.1(BTD):c.1077C>T (p.His359=)
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
NM_001370658.1(BTD):c.1086G>A (p.Glu362=) rs1559600186
NM_001370658.1(BTD):c.1092C>A (p.Thr364=) rs753278397
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter) rs397514434
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
NM_001370658.1(BTD):c.1103dup (p.Asn369fs) rs2125504069
NM_001370658.1(BTD):c.1104G>T (p.Val368=) rs750109648
NM_001370658.1(BTD):c.1110T>C (p.Ala370=) rs1473669802
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs) rs1057517256
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del) rs2065654912
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter) rs397514339
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu) rs1295528438
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
NM_001370658.1(BTD):c.1143C>T (p.Asp381=) rs2125504297
NM_001370658.1(BTD):c.114T>C (p.Tyr38=) rs2125453888
NM_001370658.1(BTD):c.1158C>A (p.Val386=) rs956882463
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs) rs672601248
NM_001370658.1(BTD):c.1170A>C (p.Gly390=) rs975896326
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=) rs368320941
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu) rs2125504798
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
NM_001370658.1(BTD):c.1203C>T (p.Gly401=) rs2125504914
NM_001370658.1(BTD):c.1204dup (p.Leu402fs) rs397514411
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro) rs2125504955
NM_001370658.1(BTD):c.1207del (p.Cys403fs)
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>C (p.Tyr405=)
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala) rs2125505114
NM_001370658.1(BTD):c.1236C>T (p.Thr412=) rs1575030932
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs) rs1057517225
NM_001370658.1(BTD):c.1248G>A (p.Glu416=) rs1208591351
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.1251G>C (p.Leu417=) rs771116095
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
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.1256C>A (p.Ala419Asp)
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.1264del (p.Val422fs) rs1057517362
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly) rs2065662435
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu) rs397514402
NM_001370658.1(BTD):c.1275G>T (p.Gly425=) rs2065662696
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala) rs2065663213
NM_001370658.1(BTD):c.1289A>C (p.His430Pro) rs559136372
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs) rs1553654142
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser) rs2125505641
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter) rs1553654145
NM_001370658.1(BTD):c.129T>C (p.Tyr43=) rs2125453999
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
NM_001370658.1(BTD):c.1309G>A (p.Val437Met) rs146600671
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1312dup (p.Cys438fs) rs587783007
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys) rs2125505856
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.1341C>A (p.Gly447=)
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter) rs1559600871
NM_001370658.1(BTD):c.1396C>T (p.Leu466=) rs2125506331
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.1404C>A (p.Gly468=)
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile) rs796051941
NM_001370658.1(BTD):c.1419C>G (p.Ser473=) rs1269007233
NM_001370658.1(BTD):c.1419del (p.Tyr474fs) rs1559600938
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys) rs750598655
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs) rs1205964567
NM_001370658.1(BTD):c.1433dup (p.Leu478fs) rs397514425
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile) rs774018881
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg) rs1559601041
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys) rs199859507
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.1515G>A (p.Arg505=) rs2125507062
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
NM_001370658.1(BTD):c.1527G>A (p.Gly509=) rs1388523400
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
NM_001370658.1(BTD):c.1541C>T (p.Ala514Val) rs1210441433
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) rs771537277
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu) rs397514428
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser) rs80338686
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) rs397514429
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly) rs1050035768
NM_001370658.1(BTD):c.167del (p.Leu56fs)
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro) rs2065326975
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del) rs397514346
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser) rs397514347
NM_001370658.1(BTD):c.195C>T (p.Leu65=) rs2125454784
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter) rs151071780
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.204G>A (p.Gln68=) rs781457122
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys) rs397514348
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
NM_001370658.1(BTD):c.225G>A (p.Gln75=) rs1423985186
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
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.249+19A>C
NM_001370658.1(BTD):c.249+1G>A rs373249212
NM_001370658.1(BTD):c.249+5G>T rs2065329555
NM_001370658.1(BTD):c.250-15T>C
NM_001370658.1(BTD):c.250-16A>T
NM_001370658.1(BTD):c.250-18T>C
NM_001370658.1(BTD):c.250-1G>T rs1553653053
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter) rs1553653062
NM_001370658.1(BTD):c.267G>T (p.Val89=) rs2125485561
NM_001370658.1(BTD):c.270del (p.Pro91fs)
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) rs1553653070
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.279T>C (p.Asp93=)
NM_001370658.1(BTD):c.282del (p.Ile95fs) rs2065521862
NM_001370658.1(BTD):c.286C>T (p.His96Tyr) rs776422082
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.333del (p.Phe111fs) rs397514356
NM_001370658.1(BTD):c.339G>T (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
NM_001370658.1(BTD):c.345C>T (p.Pro115=) rs767937184
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
NM_001370658.1(BTD):c.346del (p.Gln116fs) rs1404904752
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
NM_001370658.1(BTD):c.357G>A (p.Arg119=) rs2125486415
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter) rs2125486425
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr) rs397514357
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly) rs137877018
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.399+10G>A
NM_001370658.1(BTD):c.399+19C>T
NM_001370658.1(BTD):c.399+2T>G
NM_001370658.1(BTD):c.399+6dup
NM_001370658.1(BTD):c.399+8C>T
NM_001370658.1(BTD):c.399+8del rs2125487004
NM_001370658.1(BTD):c.399G>A (p.Glu133=) rs397514360
NM_001370658.1(BTD):c.400-16C>T
NM_001370658.1(BTD):c.400-18C>T
NM_001370658.1(BTD):c.400-6C>T rs2125499988
NM_001370658.1(BTD):c.400-7C>T
NM_001370658.1(BTD):c.400-8T>C rs758512428
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001370658.1(BTD):c.402G>A (p.Val134=) rs1003151133
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.417T>C (p.Ser139=) rs2125500181
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe) rs745343884
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro) rs2125500236
NM_001370658.1(BTD):c.429C>T (p.Ile143=) rs2065628963
NM_001370658.1(BTD):c.430del (p.Arg144fs)
NM_001370658.1(BTD):c.435A>T (p.Gly145=) rs2125500346
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu) rs184742694
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer) rs2125500515
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter) rs1057516812
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg) rs955385869
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp) rs2125500615
NM_001370658.1(BTD):c.500del (p.Pro167fs) rs2125500629
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly) rs139829181
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter) rs766476582
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser) rs397514371
NM_001370658.1(BTD):c.525C>T (p.Asn175=) rs2125500784
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.52del (p.Val18fs)
NM_001370658.1(BTD):c.534C>G (p.Val178=) rs757159632
NM_001370658.1(BTD):c.534_536del (p.Val179del) rs397514373
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del) rs1553653699
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys) rs397507174
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs) rs2125453296
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter) rs2065635815
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs) rs1553653732
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
NM_001370658.1(BTD):c.58_59del (p.Leu20fs) rs1553652080
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp) rs397514379
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
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.624T>C (p.Asp208=)
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
NM_001370658.1(BTD):c.672A>G (p.Thr224=) rs777224767
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.686del (p.Leu229fs)
NM_001370658.1(BTD):c.687G>A (p.Leu229=) rs2125501752
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu) rs397514438
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.710T>A (p.Val237Asp) rs1190721481
NM_001370658.1(BTD):c.711C>T (p.Val237=)
NM_001370658.1(BTD):c.714C>T (p.Leu238=) rs2125501926
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
NM_001370658.1(BTD):c.721_723del (p.Tyr241del) rs1553653835
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter) rs2125502078
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter) rs148031701
NM_001370658.1(BTD):c.762C>T (p.Asn254=) rs2065642615
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
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.784A>T (p.Ile262Phe) rs549204682
NM_001370658.1(BTD):c.795G>C (p.Gln265His) rs1553653855
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_001370658.1(BTD):c.799del (p.Ala267fs)
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro) rs397514334
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser) rs762757117
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001370658.1(BTD):c.81G>A (p.Glu27=) rs530566306
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
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.844C>T (p.His282Tyr) rs398123142
NM_001370658.1(BTD):c.846C>G (p.His282Gln) rs2125502649
NM_001370658.1(BTD):c.846C>T (p.His282=)
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
NM_001370658.1(BTD):c.855T>G (p.Val285=) rs2125502708
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu) rs397514393
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser) rs397514396
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr) rs1553653894
NM_001370658.1(BTD):c.894G>A (p.Glu298=) rs2125502955
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
NM_001370658.1(BTD):c.932_941del (p.His311fs) rs773137513
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn) rs397514433
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
NM_001370658.1(BTD):c.950del (p.Val317fs) rs2125503248
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
NM_001370658.1(BTD):c.963A>T (p.Pro321=) rs1313683563
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
NM_001370658.1(BTD):c.96T>C (p.His32=)
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
NM_001370658.1(BTD):c.978T>G (p.Gly326=) rs2125503475
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_001370658.1(BTD):c.99C>T (p.His33=) rs397514337
NM_001386678.1(ACAT1):c.120+2267_120+2268del
NM_001609.3(ACADSB):c.-102G>C rs886046775
NM_001609.3(ACADSB):c.-102dup rs201117089
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.3(ACADSB):c.-109A>T rs1283333224
NM_001609.3(ACADSB):c.-28G>T rs895185970
NM_001609.4(ACADSB):c.*1195C>A rs886046787
NM_001609.4(ACADSB):c.*133C>G rs58589087
NM_001609.4(ACADSB):c.*1380G>A rs1850689161
NM_001609.4(ACADSB):c.*1543G>T rs886046789
NM_001609.4(ACADSB):c.*1552A>G rs1850691633
NM_001609.4(ACADSB):c.*1682T>C rs886046790
NM_001609.4(ACADSB):c.*1840T>G rs886046792
NM_001609.4(ACADSB):c.*195G>A rs552789169
NM_001609.4(ACADSB):c.*2224A>C rs192771453
NM_001609.4(ACADSB):c.*2224A>G rs192771453
NM_001609.4(ACADSB):c.*2329A>G rs543916865
NM_001609.4(ACADSB):c.*2339G>A rs886046796
NM_001609.4(ACADSB):c.*2686G>C rs886046797
NM_001609.4(ACADSB):c.*2922G>A rs184574685
NM_001609.4(ACADSB):c.*2950A>G rs886046798
NM_001609.4(ACADSB):c.*2957T>A rs115456304
NM_001609.4(ACADSB):c.*3178A>C rs185809458
NM_001609.4(ACADSB):c.*3340G>C rs886046799
NM_001609.4(ACADSB):c.*3483T>G rs886046801
NM_001609.4(ACADSB):c.*3911A>G rs1589748503
NM_001609.4(ACADSB):c.*3918G>A rs886046803
NM_001609.4(ACADSB):c.*3993T>A rs886046805
NM_001609.4(ACADSB):c.*4324G>T rs868646540
NM_001609.4(ACADSB):c.*808G>A rs41299169
NM_001609.4(ACADSB):c.-19G>C rs750986257
NM_001609.4(ACADSB):c.1008G>A (p.Val336=) rs1240421187
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln) rs57339164
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
NM_001609.4(ACADSB):c.1128+1_1128+3del rs1228768873
NM_001609.4(ACADSB):c.1128+20_1128+26dup rs10571424
NM_001609.4(ACADSB):c.1128+25_1128+26del
NM_001609.4(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.4(ACADSB):c.1128+2_1128+4del rs1564754575
NM_001609.4(ACADSB):c.1128+3A>G rs760423996
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
NM_001609.4(ACADSB):c.1170G>T (p.Gly390=) rs886046781
NM_001609.4(ACADSB):c.1172del (p.Gly391fs)
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr) rs777906899
NM_001609.4(ACADSB):c.1228+1G>A rs943046481
NM_001609.4(ACADSB):c.1228+20_1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001609.4(ACADSB):c.1228+2T>C rs1850655600
NM_001609.4(ACADSB):c.1228+7A>G
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr) rs1430062937
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr) rs2133445397
NM_001609.4(ACADSB):c.159C>T (p.Pro53=) rs1370145865
NM_001609.4(ACADSB):c.202+1G>C
NM_001609.4(ACADSB):c.202+3A>C
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu) rs1179957829
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
NM_001609.4(ACADSB):c.356del (p.Leu119fs)
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu) rs753508431
NM_001609.4(ACADSB):c.429C>T (p.Asn143=) rs886046777
NM_001609.4(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.4(ACADSB):c.42G>T (p.Leu14=) rs745863047
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
NM_001609.4(ACADSB):c.45A>C (p.Leu15=) rs564497027
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val) rs186081101
NM_001609.4(ACADSB):c.511-8A>G
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys) rs886046778
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser) rs145529589
NM_001609.4(ACADSB):c.653dup (p.Val219fs) rs755014798
NM_001609.4(ACADSB):c.682-7T>C rs886046779
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala) rs2133483475
NM_001609.4(ACADSB):c.808-18G>A
NM_001609.4(ACADSB):c.824del (p.Ile275fs) rs2133484638
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
NM_001609.4(ACADSB):c.900+7C>G rs2133484739
NM_001609.4(ACADSB):c.901-11T>G
NM_001609.4(ACADSB):c.901-2A>G
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.3(AUH):c.*175G>A rs1826691653
NM_001698.3(AUH):c.*259_*262del rs377176126
NM_001698.3(AUH):c.*60G>A rs1564001076
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
NM_001698.3(AUH):c.12G>A (p.Ala4=)
NM_001698.3(AUH):c.12G>C (p.Ala4=)
NM_001698.3(AUH):c.153C>T (p.Ala51=)
NM_001698.3(AUH):c.156G>C (p.Gln52His)
NM_001698.3(AUH):c.174C>T (p.Ala58=)
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
NM_001698.3(AUH):c.197G>T (p.Gly66Val) rs1323577454
NM_001698.3(AUH):c.197del (p.Gly66fs) rs1219516037
NM_001698.3(AUH):c.1A>G (p.Met1Val)
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
NM_001698.3(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
NM_001698.3(AUH):c.231G>C (p.Leu77=)
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
NM_001698.3(AUH):c.243C>G (p.His81Gln) rs372245304
NM_001698.3(AUH):c.261A>T (p.Arg87=) rs2132125368
NM_001698.3(AUH):c.262+10G>A
NM_001698.3(AUH):c.262+8G>A
NM_001698.3(AUH):c.263-10C>T
NM_001698.3(AUH):c.263-15T>C rs1341392485
NM_001698.3(AUH):c.263-5_263-2del rs752149463
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del) rs2132084310
NM_001698.3(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.3(AUH):c.330+1G>A rs751318305
NM_001698.3(AUH):c.331-12A>G
NM_001698.3(AUH):c.331-14C>T
NM_001698.3(AUH):c.331-20T>A
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
NM_001698.3(AUH):c.342T>C (p.Ala114=)
NM_001698.3(AUH):c.350C>T (p.Ala117Val) rs1832379274
NM_001698.3(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
NM_001698.3(AUH):c.385A>G (p.Ile129Val) rs1423043030
NM_001698.3(AUH):c.385A>T (p.Ile129Phe) rs1423043030
NM_001698.3(AUH):c.39dup (p.Ser14fs)
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro) rs1482564472
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.419-5T>G
NM_001698.3(AUH):c.419G>A (p.Gly140Asp) rs1829899485
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
NM_001698.3(AUH):c.430A>G (p.Lys144Glu) rs2131861010
NM_001698.3(AUH):c.434A>C (p.Glu145Ala) rs2131860995
NM_001698.3(AUH):c.445A>G (p.Met149Val)
NM_001698.3(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
NM_001698.3(AUH):c.471del (p.Phe157fs)
NM_001698.3(AUH):c.47A>G (p.His16Arg)
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
NM_001698.3(AUH):c.498C>T (p.Asn166=)
NM_001698.3(AUH):c.499G>A (p.Asp167Asn) rs776409546
NM_001698.3(AUH):c.505+18C>G
NM_001698.3(AUH):c.505+7A>G
NM_001698.3(AUH):c.506-6T>C
NM_001698.3(AUH):c.506-8C>T
NM_001698.3(AUH):c.516dup (p.Val173fs)
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
NM_001698.3(AUH):c.546C>T (p.Leu182=)
NM_001698.3(AUH):c.556G>T (p.Gly186Cys) rs1040881767
NM_001698.3(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.3(AUH):c.573T>A (p.Ala191=)
NM_001698.3(AUH):c.578C>T (p.Ala193Val) rs2131662764
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) rs1827482942
NM_001698.3(AUH):c.598+11A>T rs1406913489
NM_001698.3(AUH):c.598+9_598+12del rs749186187
NM_001698.3(AUH):c.599-2A>G rs1587799880
NM_001698.3(AUH):c.599-7G>A
NM_001698.3(AUH):c.623T>C (p.Val208Ala) rs1050057219
NM_001698.3(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.3(AUH):c.655+11T>A
NM_001698.3(AUH):c.655+3A>T
NM_001698.3(AUH):c.656-17T>G
NM_001698.3(AUH):c.656G>C (p.Gly219Ala) rs1827104191
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
NM_001698.3(AUH):c.66G>C (p.Leu22=)
NM_001698.3(AUH):c.677G>A (p.Arg226His)
NM_001698.3(AUH):c.690G>A (p.Met230Ile) rs1403383788
NM_001698.3(AUH):c.713T>C (p.Phe238Ser) rs1587621572
NM_001698.3(AUH):c.714C>T (p.Phe238=) rs1173204062
NM_001698.3(AUH):c.736A>G (p.Lys246Glu) rs2131215718
NM_001698.3(AUH):c.738A>G (p.Lys246=)
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
NM_001698.3(AUH):c.742G>A (p.Ala248Thr) rs755299132
NM_001698.3(AUH):c.768C>T (p.His256=)
NM_001698.3(AUH):c.780G>C (p.Gln260His)
NM_001698.3(AUH):c.804C>T (p.Tyr268=) rs775342115
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
NM_001698.3(AUH):c.825G>A (p.Ala275=)
NM_001698.3(AUH):c.833T>C (p.Phe278Ser) rs1398261487
NM_001698.3(AUH):c.856A>G (p.Met286Val) rs776767438
NM_001698.3(AUH):c.894+14dup rs2131194109
NM_001698.3(AUH):c.894+19G>C rs377735590
NM_001698.3(AUH):c.895-1G>A rs730880309
NM_001698.3(AUH):c.895-9del rs1194639501
NM_001698.3(AUH):c.897C>T (p.Val299=)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_001698.3(AUH):c.942+4dup rs1554688047
NM_001698.3(AUH):c.943-16A>G
NM_001698.3(AUH):c.943-6del rs1826708001
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.96G>A (p.Pro32=)
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
NM_001698.3(AUH):c.996G>A (p.Arg332=)
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*1245C>T rs974616361
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*1944C>T rs910131258
NM_002225.5(IVD):c.*1984G>C rs969539454
NM_002225.5(IVD):c.*2125A>C rs1048450160
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2389C>T rs1892216503
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2494C>T rs781683880
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*2883T>A rs181699798
NM_002225.5(IVD):c.*2960C>T rs926243484
NM_002225.5(IVD):c.*3036A>C rs913379191
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*568A>T rs1891996350
NM_002225.5(IVD):c.*787T>C rs1892021365
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.*822G>T rs373923824
NM_002225.5(IVD):c.*825C>A rs7182052
NM_002225.5(IVD):c.-4A>G rs2141288785
NM_002225.5(IVD):c.-8T>G rs566691073
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) rs776608445
NM_002225.5(IVD):c.1023C>T (p.Tyr341=) rs2141360315
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
NM_002225.5(IVD):c.1029C>T (p.Val343=) rs896815486
NM_002225.5(IVD):c.102C>G (p.Pro34=) rs2141289869
NM_002225.5(IVD):c.102C>T (p.Pro34=)
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.1044T>C (p.Asp348=) rs2141360469
NM_002225.5(IVD):c.1059T>C (p.Thr353=) rs2141360637
NM_002225.5(IVD):c.1065+11G>C
NM_002225.5(IVD):c.1065+13C>T
NM_002225.5(IVD):c.1065+16A>C
NM_002225.5(IVD):c.1065+19C>T
NM_002225.5(IVD):c.1065+20G>A
NM_002225.5(IVD):c.1065+7G>A rs1238566157
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn) rs910454086
NM_002225.5(IVD):c.1066-18C>G
NM_002225.5(IVD):c.1066-18C>T
NM_002225.5(IVD):c.1066-19C>T
NM_002225.5(IVD):c.1066-20A>G
NM_002225.5(IVD):c.1066-4G>T
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1066del
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs) rs1891674455
NM_002225.5(IVD):c.107A>G (p.Asp36Gly) rs2141289941
NM_002225.5(IVD):c.1080G>T (p.Val360=)
NM_002225.5(IVD):c.1087dup (p.Tyr363fs)
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
NM_002225.5(IVD):c.1092A>G (p.Ser364=) rs2141361852
NM_002225.5(IVD):c.1092A>T (p.Ser364=)
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.109G>A (p.Asp37Asn) rs2141289961
NM_002225.5(IVD):c.1104C>T (p.Ala368=) rs1050218
NM_002225.5(IVD):c.1107A>C (p.Thr369=)
NM_002225.5(IVD):c.1107A>G (p.Thr369=) rs1286789645
NM_002225.5(IVD):c.1110G>A (p.Gln370=)
NM_002225.5(IVD):c.1119G>A (p.Leu373=) rs1891680267
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser) rs1469021843
NM_002225.5(IVD):c.1138+10C>A
NM_002225.5(IVD):c.1138+13C>A
NM_002225.5(IVD):c.1138+14A>C
NM_002225.5(IVD):c.1138+19C>G
NM_002225.5(IVD):c.1138+20C>T
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg) rs1891683650
NM_002225.5(IVD):c.1139-10C>G
NM_002225.5(IVD):c.1139-11C>A
NM_002225.5(IVD):c.1139-11C>G
NM_002225.5(IVD):c.1139-12C>T
NM_002225.5(IVD):c.1139-16C>T
NM_002225.5(IVD):c.1139-18C>T
NM_002225.5(IVD):c.1139-19G>T
NM_002225.5(IVD):c.1139-20T>C
NM_002225.5(IVD):c.1139-4G>A
NM_002225.5(IVD):c.1139-5T>G
NM_002225.5(IVD):c.1139-7G>A rs2141373271
NM_002225.5(IVD):c.1140del (p.Gly381fs)
NM_002225.5(IVD):c.114A>G (p.Ala38=)
NM_002225.5(IVD):c.1155C>A (p.Ile385=)
NM_002225.5(IVD):c.1155C>T (p.Ile385=)
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
NM_002225.5(IVD):c.1167C>T (p.Pro389=) rs2141373519
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
NM_002225.5(IVD):c.1204_1210del (p.Ile402fs)
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
NM_002225.5(IVD):c.120T>C (p.Asn40=)
NM_002225.5(IVD):c.1212T>G (p.Ala404=)
NM_002225.5(IVD):c.1221C>T (p.Ser407=)
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.122G>A (p.Gly41Glu) rs2141290050
NM_002225.5(IVD):c.1242C>A (p.Ile414=)
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
NM_002225.5(IVD):c.1242C>T (p.Ile414=) rs756694379
NM_002225.5(IVD):c.124C>T (p.Leu42=)
NM_002225.5(IVD):c.125T>A (p.Leu42Gln) rs121434284
NM_002225.5(IVD):c.125T>G (p.Leu42Arg) rs121434284
NM_002225.5(IVD):c.126A>C (p.Leu42=)
NM_002225.5(IVD):c.126A>G (p.Leu42=)
NM_002225.5(IVD):c.127dup (p.Ser43fs)
NM_002225.5(IVD):c.129C>A (p.Ser43Arg) rs918899977
NM_002225.5(IVD):c.12G>C (p.Ala4=)
NM_002225.5(IVD):c.133G>A (p.Glu45Lys) rs1890355188
NM_002225.5(IVD):c.137A>G (p.Gln46Arg) rs1890355492
NM_002225.5(IVD):c.142C>G (p.Gln48Glu) rs771280106
NM_002225.5(IVD):c.144+10C>G rs2141290384
NM_002225.5(IVD):c.144+15C>T
NM_002225.5(IVD):c.144+17C>T
NM_002225.5(IVD):c.144+18C>T
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.144+1G>C
NM_002225.5(IVD):c.144+20del
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.145-10C>T rs1451681639
NM_002225.5(IVD):c.145-14C>T
NM_002225.5(IVD):c.145-19T>C
NM_002225.5(IVD):c.145-2A>T
NM_002225.5(IVD):c.145-7C>T rs2141301246
NM_002225.5(IVD):c.145-8C>G
NM_002225.5(IVD):c.145-8C>T rs1890586123
NM_002225.5(IVD):c.145-9T>C
NM_002225.5(IVD):c.147T>C (p.Leu49=) rs2141301309
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
NM_002225.5(IVD):c.150del (p.Gln51fs) rs2141301396
NM_002225.5(IVD):c.156C>G (p.Thr52=) rs2141301442
NM_002225.5(IVD):c.157_160dup (p.Ala54fs) rs1555403211
NM_002225.5(IVD):c.158T>C (p.Met53Thr) rs1890589984
NM_002225.5(IVD):c.15T>C (p.Thr5=) rs2141289023
NM_002225.5(IVD):c.162T>C (p.Ala54=)
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
NM_002225.5(IVD):c.174G>A (p.Gln58=) rs2141301579
NM_002225.5(IVD):c.177G>A (p.Glu59=)
NM_002225.5(IVD):c.179A>C (p.His60Pro)
NM_002225.5(IVD):c.17G>A (p.Arg6Gln) rs748160492
NM_002225.5(IVD):c.181C>T (p.Leu61=)
NM_002225.5(IVD):c.195C>T (p.Ala65=) rs764288165
NM_002225.5(IVD):c.199G>T (p.Glu67Ter) rs199865931
NM_002225.5(IVD):c.204C>A (p.Ile68=)
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
NM_002225.5(IVD):c.225G>A (p.Lys75=) rs1018215813
NM_002225.5(IVD):c.225del (p.Asn76fs) rs2141302044
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
NM_002225.5(IVD):c.232C>A (p.Arg78=)
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.234+10G>A
NM_002225.5(IVD):c.234+10del rs745874056
NM_002225.5(IVD):c.234+16C>G
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.234+17G>C
NM_002225.5(IVD):c.234+25_234+34dup
NM_002225.5(IVD):c.235-13A>G
NM_002225.5(IVD):c.235-15C>T
NM_002225.5(IVD):c.235-1G>A
NM_002225.5(IVD):c.235-20C>T
NM_002225.5(IVD):c.235-5G>C
NM_002225.5(IVD):c.242G>A (p.Trp81Ter) rs767782379
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_002225.5(IVD):c.254G>A (p.Gly85Glu) rs2141304438
NM_002225.5(IVD):c.255G>A (p.Gly85=) rs778593528
NM_002225.5(IVD):c.259del (p.Leu87fs)
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
NM_002225.5(IVD):c.263del (p.Gly88fs)
NM_002225.5(IVD):c.264C>A (p.Gly88=) rs377199313
NM_002225.5(IVD):c.264C>G (p.Gly88=)
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
NM_002225.5(IVD):c.267A>G (p.Val89=)
NM_002225.5(IVD):c.268T>C (p.Leu90=)
NM_002225.5(IVD):c.270G>A (p.Leu90=)
NM_002225.5(IVD):c.272G>A (p.Gly91Asp) rs1555403365
NM_002225.5(IVD):c.272del (p.Gly91fs)
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
NM_002225.5(IVD):c.285del (p.Val96fs)
NM_002225.5(IVD):c.286+14C>G
NM_002225.5(IVD):c.286+16_286+17del rs775497134
NM_002225.5(IVD):c.286+18C>G
NM_002225.5(IVD):c.286+18C>T
NM_002225.5(IVD):c.286+3_286+6dup
NM_002225.5(IVD):c.287-10C>T
NM_002225.5(IVD):c.287-11A>G
NM_002225.5(IVD):c.287-12C>T
NM_002225.5(IVD):c.287-14C>G
NM_002225.5(IVD):c.287-18G>T
NM_002225.5(IVD):c.287-19T>G
NM_002225.5(IVD):c.287-2A>C rs781340220
NM_002225.5(IVD):c.287-2A>G rs781340220
NM_002225.5(IVD):c.294T>C (p.Tyr98=) rs2141322944
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
NM_002225.5(IVD):c.297C>A (p.Gly99=) rs377129112
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
NM_002225.5(IVD):c.300C>A (p.Gly100=)
NM_002225.5(IVD):c.300C>T (p.Gly100=)
NM_002225.5(IVD):c.306C>A (p.Gly102=) rs1890967563
NM_002225.5(IVD):c.307C>T (p.Leu103=)
NM_002225.5(IVD):c.315C>T (p.Tyr105=)
NM_002225.5(IVD):c.320A>G (p.Glu107Gly) rs2141323321
NM_002225.5(IVD):c.321G>A (p.Glu107=) rs1448958748
NM_002225.5(IVD):c.324T>C (p.His108=)
NM_002225.5(IVD):c.327G>A (p.Val109=)
NM_002225.5(IVD):c.339G>A (p.Glu113=)
NM_002225.5(IVD):c.33T>C (p.Arg11=) rs2141289261
NM_002225.5(IVD):c.34G>A (p.Val12Met)
NM_002225.5(IVD):c.350G>A (p.Arg117Gln) rs145725101
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
NM_002225.5(IVD):c.360A>G (p.Gly120=) rs2141323670
NM_002225.5(IVD):c.363A>T (p.Ala121=)
NM_002225.5(IVD):c.369G>T (p.Gly123=)
NM_002225.5(IVD):c.36G>A (p.Val12=) rs2141289293
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
NM_002225.5(IVD):c.378C>T (p.Tyr126=) rs1360239245
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
NM_002225.5(IVD):c.381T>C (p.Gly127=) rs2141323846
NM_002225.5(IVD):c.384C>A (p.Ala128=) rs2141323906
NM_002225.5(IVD):c.387C>T (p.His129=)
NM_002225.5(IVD):c.394del (p.Leu132fs)
NM_002225.5(IVD):c.402C>T (p.Ile134=)
NM_002225.5(IVD):c.415C>T (p.Arg139Cys) rs376324882
NM_002225.5(IVD):c.417C>T (p.Arg139=)
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
NM_002225.5(IVD):c.420T>C (p.Asn140=) rs1890984701
NM_002225.5(IVD):c.426T>C (p.Asn142=) rs1025400393
NM_002225.5(IVD):c.432C>G (p.Ala144=) rs1213604093
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
NM_002225.5(IVD):c.444G>A (p.Lys148=) rs768172531
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
NM_002225.5(IVD):c.44G>A (p.Trp15Ter) rs907414760
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
NM_002225.5(IVD):c.456+11G>A
NM_002225.5(IVD):c.456+11G>C
NM_002225.5(IVD):c.456+12G>A
NM_002225.5(IVD):c.456+12G>T
NM_002225.5(IVD):c.456+15A>G
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.457-12T>C
NM_002225.5(IVD):c.457-16G>A
NM_002225.5(IVD):c.457-19T>C
NM_002225.5(IVD):c.457-1G>A
NM_002225.5(IVD):c.457-20G>A
NM_002225.5(IVD):c.457-20G>T
NM_002225.5(IVD):c.457-2A>C
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-2A>T rs771914739
NM_002225.5(IVD):c.457-3C>T
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.457-4G>A rs2141328194
NM_002225.5(IVD):c.457-7C>T rs2141328172
NM_002225.5(IVD):c.457C>G (p.Leu153Val) rs763665120
NM_002225.5(IVD):c.459G>C (p.Leu153=) rs372974651
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
NM_002225.5(IVD):c.462C>A (p.Ile154=)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.466G>A (p.Gly156Ser) rs1555404010
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.468T>A (p.Gly156=)
NM_002225.5(IVD):c.489C>T (p.Ala163=)
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
NM_002225.5(IVD):c.495T>C (p.Ser165=)
NM_002225.5(IVD):c.498G>A (p.Glu166=) rs1891054324
NM_002225.5(IVD):c.49C>T (p.Leu17=)
NM_002225.5(IVD):c.504T>C (p.Asn168=) rs1472673106
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
NM_002225.5(IVD):c.507A>G (p.Ala169=)
NM_002225.5(IVD):c.507A>T (p.Ala169=)
NM_002225.5(IVD):c.513T>C (p.Ser171=) rs2141328958
NM_002225.5(IVD):c.516TGT[1] (p.Val174del) rs1566936030
NM_002225.5(IVD):c.521T>G (p.Val174Gly) rs1891058364
NM_002225.5(IVD):c.522C>G (p.Val174=)
NM_002225.5(IVD):c.525T>C (p.Ser175=)
NM_002225.5(IVD):c.526A>G (p.Met176Val)
NM_002225.5(IVD):c.531G>A (p.Lys177=) rs1891059665
NM_002225.5(IVD):c.541G>T (p.Glu181Ter) rs2141329244
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
NM_002225.5(IVD):c.550+10C>G rs762786940
NM_002225.5(IVD):c.550+10C>T rs762786940
NM_002225.5(IVD):c.550+17C>T
NM_002225.5(IVD):c.550+18T>G
NM_002225.5(IVD):c.550+19T>G
NM_002225.5(IVD):c.550+6G>A rs1891063818
NM_002225.5(IVD):c.551-17C>T
NM_002225.5(IVD):c.551-1G>A rs1057517043
NM_002225.5(IVD):c.551-5C>T rs762840448
NM_002225.5(IVD):c.561C>T (p.Tyr187=)
NM_002225.5(IVD):c.564C>T (p.Ile188=) rs1171530725
NM_002225.5(IVD):c.581del (p.Phe194fs)
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
NM_002225.5(IVD):c.588C>T (p.Ile196=) rs2141331170
NM_002225.5(IVD):c.591T>C (p.Thr197=)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
NM_002225.5(IVD):c.607G>C (p.Asp203His) rs2141331313
NM_002225.5(IVD):c.60G>T (p.Pro20=) rs1482549847
NM_002225.5(IVD):c.612C>T (p.Val204=)
NM_002225.5(IVD):c.613C>T (p.Leu205=) rs1891095620
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.61_67del (p.Leu21fs) rs1890343709
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
NM_002225.5(IVD):c.624T>C (p.Tyr208=) rs1267359192
NM_002225.5(IVD):c.630G>A (p.Lys210=) rs1337743160
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)
NM_002225.5(IVD):c.633A>C (p.Thr211=)
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
NM_002225.5(IVD):c.634G>C (p.Asp212His)
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
NM_002225.5(IVD):c.639G>C (p.Leu213=) rs2141331622
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
NM_002225.5(IVD):c.642T>G (p.Ala214=) rs2141331657
NM_002225.5(IVD):c.646G>A (p.Val216Met)
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
NM_002225.5(IVD):c.667dup (p.Thr223fs)
NM_002225.5(IVD):c.669dup (p.Ala224fs)
NM_002225.5(IVD):c.66C>G (p.Ala22=) rs2141289538
NM_002225.5(IVD):c.66C>T (p.Ala22=)
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
NM_002225.5(IVD):c.678T>G (p.Ile226Met) rs1891104586
NM_002225.5(IVD):c.681G>A (p.Val227=)
NM_002225.5(IVD):c.685_687+15del rs2141332016
NM_002225.5(IVD):c.687+1G>C rs2141332035
NM_002225.5(IVD):c.687+2T>C rs2141332040
NM_002225.5(IVD):c.687+7_687+16del rs975307399
NM_002225.5(IVD):c.687+8T>C rs1426896228
NM_002225.5(IVD):c.687+8T>G rs1426896228
NM_002225.5(IVD):c.688-13G>A rs2141339742
NM_002225.5(IVD):c.688-14del rs561133272
NM_002225.5(IVD):c.688-19C>T
NM_002225.5(IVD):c.688-6G>A rs770402490
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
NM_002225.5(IVD):c.693dup (p.Pro232fs)
NM_002225.5(IVD):c.69C>T (p.Gly23=)
NM_002225.5(IVD):c.6G>T (p.Ala2=)
NM_002225.5(IVD):c.708C>G (p.Thr236=)
NM_002225.5(IVD):c.711dup (p.Lys238Ter) rs1555404426
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del) rs1555404430
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
NM_002225.5(IVD):c.717G>A (p.Lys239=)
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
NM_002225.5(IVD):c.720G>A (p.Leu240=) rs2141340085
NM_002225.5(IVD):c.721G>A (p.Asp241Asn) rs2141340100
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
NM_002225.5(IVD):c.727C>T (p.Leu243=)
NM_002225.5(IVD):c.72C>T (p.Phe24=) rs1403443551
NM_002225.5(IVD):c.732G>A (p.Gly244=)
NM_002225.5(IVD):c.738G>A (p.Arg246=)
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.750C>T (p.Thr250=) rs2141340373
NM_002225.5(IVD):c.761_785-762del
NM_002225.5(IVD):c.762C>A (p.Ile254=)
NM_002225.5(IVD):c.772T>G (p.Cys258Gly) rs2141340538
NM_002225.5(IVD):c.774C>T (p.Cys258=)
NM_002225.5(IVD):c.784+11C>T
NM_002225.5(IVD):c.784+15G>C
NM_002225.5(IVD):c.784+18del
NM_002225.5(IVD):c.784+19C>T
NM_002225.5(IVD):c.784+7A>T
NM_002225.5(IVD):c.785-19C>T
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.785-2A>T
NM_002225.5(IVD):c.785-7C>T rs2141351235
NM_002225.5(IVD):c.785-9del
NM_002225.5(IVD):c.789C>T (p.Ala263=)
NM_002225.5(IVD):c.78C>G (p.Ser26=)
NM_002225.5(IVD):c.792C>T (p.Asn264=)
NM_002225.5(IVD):c.795C>T (p.Ile265=)
NM_002225.5(IVD):c.798G>A (p.Leu266=)
NM_002225.5(IVD):c.804T>C (p.His268=)
NM_002225.5(IVD):c.813G>A (p.Lys271=) rs767825575
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
NM_002225.5(IVD):c.823G>A (p.Val275Met) rs757832700
NM_002225.5(IVD):c.823G>C (p.Val275Leu) rs757832700
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
NM_002225.5(IVD):c.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.838_841del (p.Leu280fs) rs2141351682
NM_002225.5(IVD):c.840G>A (p.Leu280=) rs2141351717
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
NM_002225.5(IVD):c.844C>T (p.Leu282=)
NM_002225.5(IVD):c.846G>A (p.Leu282=)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.84G>C (p.Arg28=)
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
NM_002225.5(IVD):c.864C>G (p.Ala288=)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.870G>A (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.870del (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.875T>C (p.Leu292Pro) rs1555404843
NM_002225.5(IVD):c.878+15C>G
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.878+2T>C
NM_002225.5(IVD):c.878+7G>A
NM_002225.5(IVD):c.879-12C>T
NM_002225.5(IVD):c.879-19C>T
NM_002225.5(IVD):c.879-5G>C rs750569823
NM_002225.5(IVD):c.879-7C>T rs2141355100
NM_002225.5(IVD):c.87C>A (p.Ala29=)
NM_002225.5(IVD):c.87C>G (p.Ala29=) rs751297903
NM_002225.5(IVD):c.87C>T (p.Ala29=) rs751297903
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.882C>G (p.Leu294=)
NM_002225.5(IVD):c.883A>T (p.Met295Leu) rs1595786853
NM_002225.5(IVD):c.887A>T (p.Gln296Leu) rs1595786862
NM_002225.5(IVD):c.888A>G (p.Gln296=)
NM_002225.5(IVD):c.891G>T (p.Ala297=) rs138427412
NM_002225.5(IVD):c.894C>T (p.Val298=) rs1566940284
NM_002225.5(IVD):c.906C>A (p.Thr302=) rs1891560320
NM_002225.5(IVD):c.912C>T (p.Pro304=) rs1324916195
NM_002225.5(IVD):c.919C>T (p.His307Tyr) rs2141355545
NM_002225.5(IVD):c.921C>T (p.His307=) rs1304408183
NM_002225.5(IVD):c.928del (p.Glu310fs)
NM_002225.5(IVD):c.930A>G (p.Glu310=) rs1209121749
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)
NM_002225.5(IVD):c.954C>T (p.His318=) rs1595787254
NM_002225.5(IVD):c.957C>T (p.Phe319=) rs1197885966
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
NM_002225.5(IVD):c.960+1G>A
NM_002225.5(IVD):c.960+7C>A
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.961-13C>A
NM_002225.5(IVD):c.961-16A>G
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-20T>C
NM_002225.5(IVD):c.961-2A>G rs1057517056
NM_002225.5(IVD):c.961-2A>T rs1057517056
NM_002225.5(IVD):c.961-5C>T
NM_002225.5(IVD):c.967C>G (p.Gln323Glu) rs1891639284
NM_002225.5(IVD):c.974del (p.Lys325fs) rs1555405070
NM_002225.5(IVD):c.977T>C (p.Met326Thr) rs1891640609
NM_002225.5(IVD):c.985_986del (p.Met329fs)
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
NM_002225.5(IVD):c.994del (p.Arg332fs) rs1555405080
NM_002225.5(IVD):c.995G>A (p.Arg332His)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766
NM_002225.5(IVD):c.99G>A (p.Leu33=)
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
NM_005050.4(ABCD4):c.1028+19C>G
NM_005050.4(ABCD4):c.1028+20C>A rs2139899171
NM_005050.4(ABCD4):c.1028+8C>T
NM_005050.4(ABCD4):c.1028+9G>T
NM_005050.4(ABCD4):c.1029-14C>G
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met) rs35073715
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1119-20C>T
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
NM_005050.4(ABCD4):c.1125del (p.Trp377fs) rs1440898011
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val) rs2081160348
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile) rs945270666
NM_005050.4(ABCD4):c.1294del (p.Arg432fs) rs1435760575
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln) rs745414252
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser) rs2081143591
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005050.4(ABCD4):c.1327+9C>A
NM_005050.4(ABCD4):c.1328-10G>A
NM_005050.4(ABCD4):c.1328-18T>C
NM_005050.4(ABCD4):c.1328-19G>A rs376137295
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser) rs1594861158
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
NM_005050.4(ABCD4):c.1419+15G>A
NM_005050.4(ABCD4):c.1420-11dup
NM_005050.4(ABCD4):c.1420-3del
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His) rs1045211254
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
NM_005050.4(ABCD4):c.1456+9G>T
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys) rs2080853826
NM_005050.4(ABCD4):c.1457-18G>A
NM_005050.4(ABCD4):c.1457-1G>C
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
NM_005050.4(ABCD4):c.1507-11G>C rs375805220
NM_005050.4(ABCD4):c.1507-3_1507-2dup rs746298456
NM_005050.4(ABCD4):c.1507-4A>G
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
NM_005050.4(ABCD4):c.1559+13C>T
NM_005050.4(ABCD4):c.1559+16G>A
NM_005050.4(ABCD4):c.1559+7_1559+11del rs1381694360
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys) rs2140107509
NM_005050.4(ABCD4):c.158-14C>T
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter) rs767795583
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr) rs754370477
NM_005050.4(ABCD4):c.1637-15G>T rs2079892790
NM_005050.4(ABCD4):c.1637-6C>G
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly) rs2139698542
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg) rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His) rs1204078851
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs) rs387907315
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe) rs2139689489
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
NM_005050.4(ABCD4):c.1A>G (p.Met1Val) rs2140174798
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu) rs2140093719
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
NM_005050.4(ABCD4):c.286-10C>G
NM_005050.4(ABCD4):c.286-3C>T
NM_005050.4(ABCD4):c.286-7T>A
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
NM_005050.4(ABCD4):c.38+16G>A
NM_005050.4(ABCD4):c.38+18G>A
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
NM_005050.4(ABCD4):c.39-19C>T
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala) rs972140495
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
NM_005050.4(ABCD4):c.426-11A>G rs2140018313
NM_005050.4(ABCD4):c.426-4C>G rs765378243
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu) rs150967109
NM_005050.4(ABCD4):c.448G>A (p.Val150Met) rs574925291
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr) rs778245157
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
NM_005050.4(ABCD4):c.542+20C>G rs2140013486
NM_005050.4(ABCD4):c.543-11C>G
NM_005050.4(ABCD4):c.543-17CT[3]
NM_005050.4(ABCD4):c.543-17CT[4]
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
NM_005050.4(ABCD4):c.669-6G>A
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
NM_005050.4(ABCD4):c.719+2T>G rs2082518811
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp) rs1566959741
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
NM_005050.4(ABCD4):c.814+13G>A
NM_005050.4(ABCD4):c.814+6C>T rs1012967402
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn) rs2081908223
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly) rs2084043062
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
NM_005050.4(ABCD4):c.936+20A>C
NM_005050.4(ABCD4):c.936+20A>G
NM_005050.4(ABCD4):c.937-17C>T
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=) rs2148589412
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys) rs2065417308
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His) rs2148589382
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
NM_005334.3(HCFC1):c.1084+17C>T
NM_005334.3(HCFC1):c.1084+18G>A
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1084+20C>T
NM_005334.3(HCFC1):c.1084+7C>A
NM_005334.3(HCFC1):c.1084+9G>A rs1557116426
NM_005334.3(HCFC1):c.1085-12G>C
NM_005334.3(HCFC1):c.1085-12G>T
NM_005334.3(HCFC1):c.1085-17A>G
NM_005334.3(HCFC1):c.1085-20C>T
NM_005334.3(HCFC1):c.1085-6C>T
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met) rs782132752
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) rs1557116313
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) rs2065413556
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1444+10G>A
NM_005334.3(HCFC1):c.1444+14C>T
NM_005334.3(HCFC1):c.1444+18G>A
NM_005334.3(HCFC1):c.1445-11T>C
NM_005334.3(HCFC1):c.1445-17G>T
NM_005334.3(HCFC1):c.1445-20C>G
NM_005334.3(HCFC1):c.1445-7T>C
NM_005334.3(HCFC1):c.1445-8C>G
NM_005334.3(HCFC1):c.1445-8C>T
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1605+11G>A rs2148586621
NM_005334.3(HCFC1):c.1605+11G>T
NM_005334.3(HCFC1):c.1605+18G>A
NM_005334.3(HCFC1):c.1606-11G>T
NM_005334.3(HCFC1):c.1606-14C>T
NM_005334.3(HCFC1):c.1606-15C>T
NM_005334.3(HCFC1):c.1606-16C>T
NM_005334.3(HCFC1):c.1606-17G>A
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met) rs1557115869
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=) rs2148584844
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=) rs2148584612
NM_005334.3(HCFC1):c.1803+13del
NM_005334.3(HCFC1):c.1803+15G>A
NM_005334.3(HCFC1):c.1804-14T>C
NM_005334.3(HCFC1):c.1804-7C>T
NM_005334.3(HCFC1):c.1804-9C>G
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
NM_005334.3(HCFC1):c.193+12G>A
NM_005334.3(HCFC1):c.193+15C>T
NM_005334.3(HCFC1):c.193+15dup
NM_005334.3(HCFC1):c.193+16G>T
NM_005334.3(HCFC1):c.193+7G>A
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
NM_005334.3(HCFC1):c.194-19G>C
NM_005334.3(HCFC1):c.194-20T>C
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
NM_005334.3(HCFC1):c.2028+17G>A
NM_005334.3(HCFC1):c.2028+18C>T
NM_005334.3(HCFC1):c.2028+6T>C
NM_005334.3(HCFC1):c.2029-12C>T
NM_005334.3(HCFC1):c.2029-12del
NM_005334.3(HCFC1):c.2029-14C>T
NM_005334.3(HCFC1):c.2029-18C>T
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
NM_005334.3(HCFC1):c.2133+10C>T
NM_005334.3(HCFC1):c.2133+11dup
NM_005334.3(HCFC1):c.2133+20A>C
NM_005334.3(HCFC1):c.2134-14C>T
NM_005334.3(HCFC1):c.2134-18C>T
NM_005334.3(HCFC1):c.2134-20C>T
NM_005334.3(HCFC1):c.2134-9C>T
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
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.219C>T (p.Ala73=)
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val) rs2065388763
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
NM_005334.3(HCFC1):c.2353+15C>T
NM_005334.3(HCFC1):c.2353+16G>A
NM_005334.3(HCFC1):c.2353+19A>G
NM_005334.3(HCFC1):c.2353+20T>C
NM_005334.3(HCFC1):c.2353+6G>A
NM_005334.3(HCFC1):c.2354-10_2354-9del
NM_005334.3(HCFC1):c.2354-14A>G
NM_005334.3(HCFC1):c.2354-15C>T
NM_005334.3(HCFC1):c.2354-16C>G
NM_005334.3(HCFC1):c.2354-20G>A
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) rs782481466
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
NM_005334.3(HCFC1):c.2496+12C>T
NM_005334.3(HCFC1):c.2496+14A>G
NM_005334.3(HCFC1):c.2496+17C>T
NM_005334.3(HCFC1):c.2496+18G>A
NM_005334.3(HCFC1):c.2496+20C>G
NM_005334.3(HCFC1):c.2496+7C>T
NM_005334.3(HCFC1):c.2497-16T>C
NM_005334.3(HCFC1):c.2497-17_2497-16del
NM_005334.3(HCFC1):c.2497-9G>T
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
NM_005334.3(HCFC1):c.2635+10C>T
NM_005334.3(HCFC1):c.2635+12T>A
NM_005334.3(HCFC1):c.2635+15G>A
NM_005334.3(HCFC1):c.2635+9C>T
NM_005334.3(HCFC1):c.2636-10T>A
NM_005334.3(HCFC1):c.2636-14C>T
NM_005334.3(HCFC1):c.2636-15C>A
NM_005334.3(HCFC1):c.2636-18T>A
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) rs949004802
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
NM_005334.3(HCFC1):c.2856+17G>A
NM_005334.3(HCFC1):c.2856+8A>G
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
NM_005334.3(HCFC1):c.2857-14G>C
NM_005334.3(HCFC1):c.2857-18C>T
NM_005334.3(HCFC1):c.2857-20C>T rs2148575650
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.2857-8C>T
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) rs944235194
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu) rs2065360852
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) rs2065360777
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
NM_005334.3(HCFC1):c.342+11C>T
NM_005334.3(HCFC1):c.342+9G>A
NM_005334.3(HCFC1):c.343-10G>A
NM_005334.3(HCFC1):c.343-7T>G
NM_005334.3(HCFC1):c.343-8T>C
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=) rs782167598
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr) rs2065355018
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile) rs2065352881
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg) rs2148571129
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) rs782136932
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) rs2148569217
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr) rs2065343736
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=) rs2148568710
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
NM_005334.3(HCFC1):c.4333+9A>G
NM_005334.3(HCFC1):c.4334-10G>A
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
NM_005334.3(HCFC1):c.4334-11C>G
NM_005334.3(HCFC1):c.4334-13G>A
NM_005334.3(HCFC1):c.4334-15C>T
NM_005334.3(HCFC1):c.4334-16C>T
NM_005334.3(HCFC1):c.4334-18_4334-8dup
NM_005334.3(HCFC1):c.4334-20C>A
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) rs2065338418
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
NM_005334.3(HCFC1):c.4497+16G>A
NM_005334.3(HCFC1):c.4497+16G>T
NM_005334.3(HCFC1):c.4497+18C>T
NM_005334.3(HCFC1):c.4497+19G>A
NM_005334.3(HCFC1):c.4497+9C>T
NM_005334.3(HCFC1):c.4498-12G>T
NM_005334.3(HCFC1):c.4498-20C>T
NM_005334.3(HCFC1):c.4498-6C>T
NM_005334.3(HCFC1):c.4498-7C>T
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) rs1277991321
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=) rs2065328379
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met) rs2148563099
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=) rs1557112897
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
NM_005334.3(HCFC1):c.4942+17C>A
NM_005334.3(HCFC1):c.4942+17C>T
NM_005334.3(HCFC1):c.4942+20T>C
NM_005334.3(HCFC1):c.4942+20T>G
NM_005334.3(HCFC1):c.4942+7G>A
NM_005334.3(HCFC1):c.4943-11C>A
NM_005334.3(HCFC1):c.4943-14C>T
NM_005334.3(HCFC1):c.4943-16C>T
NM_005334.3(HCFC1):c.4943-18C>A
NM_005334.3(HCFC1):c.4943-18C>T
NM_005334.3(HCFC1):c.4943-20T>C
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
NM_005334.3(HCFC1):c.503+10G>A
NM_005334.3(HCFC1):c.503+8T>G
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
NM_005334.3(HCFC1):c.504-13C>A
NM_005334.3(HCFC1):c.504-16G>C
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met) rs2065317868
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) rs2148561246
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup) rs2148561074
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
NM_005334.3(HCFC1):c.5260+16C>T
NM_005334.3(HCFC1):c.5260+17G>A
NM_005334.3(HCFC1):c.5260+7G>A
NM_005334.3(HCFC1):c.5261-12C>T
NM_005334.3(HCFC1):c.5261-12_5261-10del
NM_005334.3(HCFC1):c.5261-15C>T
NM_005334.3(HCFC1):c.5261-4C>T
NM_005334.3(HCFC1):c.5261-5C>T
NM_005334.3(HCFC1):c.5261-8C>G
NM_005334.3(HCFC1):c.5261-9_5261-6del
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) rs782384589
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=) rs2148560027
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=) rs1220039024
NM_005334.3(HCFC1):c.5379+10del
NM_005334.3(HCFC1):c.5379+15T>C
NM_005334.3(HCFC1):c.5379+7C>T
NM_005334.3(HCFC1):c.5380-13T>C
NM_005334.3(HCFC1):c.5380-15G>A
NM_005334.3(HCFC1):c.5380-16C>T
NM_005334.3(HCFC1):c.5380-19C>T
NM_005334.3(HCFC1):c.5380-20G>A
NM_005334.3(HCFC1):c.5380-7C>T
NM_005334.3(HCFC1):c.5380-8T>A
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) rs2065309711
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
NM_005334.3(HCFC1):c.5517+10C>G
NM_005334.3(HCFC1):c.5517+20G>C
NM_005334.3(HCFC1):c.5518-10C>T
NM_005334.3(HCFC1):c.5518-18C>T
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly) rs2065303644
NM_005334.3(HCFC1):c.5703+11C>T
NM_005334.3(HCFC1):c.5703+14T>G
NM_005334.3(HCFC1):c.5703+18del
NM_005334.3(HCFC1):c.5703+19T>C
NM_005334.3(HCFC1):c.5704-11C>G
NM_005334.3(HCFC1):c.5704-11C>T
NM_005334.3(HCFC1):c.5704-13C>T
NM_005334.3(HCFC1):c.5704-14C>A
NM_005334.3(HCFC1):c.5704-15C>A
NM_005334.3(HCFC1):c.5704-20_5704-18del
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=) rs782090098
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=) rs1000069168
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
NM_005334.3(HCFC1):c.6004+10C>G
NM_005334.3(HCFC1):c.6004+13C>T
NM_005334.3(HCFC1):c.6004+14G>T
NM_005334.3(HCFC1):c.6004+16G>A
NM_005334.3(HCFC1):c.6005-11G>A
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6005-13C>A
NM_005334.3(HCFC1):c.6005-13C>T
NM_005334.3(HCFC1):c.6005-16C>T
NM_005334.3(HCFC1):c.6005-5T>A
NM_005334.3(HCFC1):c.6005-6T>C
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=) rs1715955651
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
NM_005334.3(HCFC1):c.6068+11A>G
NM_005334.3(HCFC1):c.6068+13C>G rs2148553916
NM_005334.3(HCFC1):c.6068+14C>T
NM_005334.3(HCFC1):c.6068+15C>G
NM_005334.3(HCFC1):c.6068+19T>C
NM_005334.3(HCFC1):c.6068+20C>T
NM_005334.3(HCFC1):c.6069-20T>C
NM_005334.3(HCFC1):c.6069-8C>T
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile) rs2148553327
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
NM_005334.3(HCFC1):c.609T>C (p.His203=)
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
NM_005334.3(HCFC1):c.712+11T>A
NM_005334.3(HCFC1):c.712+13G>T
NM_005334.3(HCFC1):c.712+6C>T rs1165322624
NM_005334.3(HCFC1):c.712+9GGT[3]
NM_005334.3(HCFC1):c.713-10CT[2]
NM_005334.3(HCFC1):c.713-12G>A
NM_005334.3(HCFC1):c.713-17C>T
NM_005334.3(HCFC1):c.713-18C>T
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) rs2065524568
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.797+13T>A
NM_005334.3(HCFC1):c.797+15A>C
NM_005334.3(HCFC1):c.797+20C>T
NM_005334.3(HCFC1):c.797+9C>G
NM_005334.3(HCFC1):c.797+9C>T
NM_005334.3(HCFC1):c.798-11C>T
NM_005334.3(HCFC1):c.798-11_798-9del
NM_005334.3(HCFC1):c.798-15C>T
NM_005334.3(HCFC1):c.798-5C>T
NM_005334.3(HCFC1):c.798-9C>T
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
NM_005334.3(HCFC1):c.904+10C>T
NM_005334.3(HCFC1):c.904+13C>T
NM_005334.3(HCFC1):c.904+16G>A
NM_005334.3(HCFC1):c.904+20C>T
NM_005334.3(HCFC1):c.905-9C>T
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_013247.5(HTRA2):c.1013_1015del (p.Leu338del) rs1675617353
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs) rs1057519080
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro) rs1675478353
NM_013247.5(HTRA2):c.573dup (p.Leu192fs) rs2104369249
NM_013247.5(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer) rs1057519082
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys) rs763567914
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
NM_013247.5(HTRA2):c.906+1G>C rs1057519081
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
NM_014362.4(HIBCH):c.1010_1011+3del
NM_014362.4(HIBCH):c.1011+10dup
NM_014362.4(HIBCH):c.1011+20del rs144660628
NM_014362.4(HIBCH):c.1012-10T>G rs1246020574
NM_014362.4(HIBCH):c.1012-16C>G
NM_014362.4(HIBCH):c.1012-19A>T
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter) rs1364971527
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser) rs770114459
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val) rs1260531370
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met) rs1575690635
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
NM_014362.4(HIBCH):c.1128del (p.Phe376fs) rs863225062
NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter) rs863225062
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu) rs749741622
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
NM_014362.4(HIBCH):c.129dup (p.Gly44fs) rs767597690
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile) rs1575757363
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.219+16A>G rs2105992508
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser) rs2105990079
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
NM_014362.4(HIBCH):c.304+9T>G
NM_014362.4(HIBCH):c.305-5C>T
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
NM_014362.4(HIBCH):c.35+8AG[2] rs754126815
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
NM_014362.4(HIBCH):c.385+11del rs374891270
NM_014362.4(HIBCH):c.385+2T>A rs2105985080
NM_014362.4(HIBCH):c.386-1G>C rs1203170244
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.438+4A>G
NM_014362.4(HIBCH):c.439-1G>A rs2105952039
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.457C>T (p.His153Tyr) rs752450856
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg) rs1341440380
NM_014362.4(HIBCH):c.517+16T>C
NM_014362.4(HIBCH):c.518-12A>G
NM_014362.4(HIBCH):c.529G>C (p.Asp177His) rs1315908015
NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
NM_014362.4(HIBCH):c.609del (p.Gly204fs) rs776592661
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
NM_014362.4(HIBCH):c.632G>T (p.Gly211Val) rs1210193670
NM_014362.4(HIBCH):c.663+13A>G
NM_014362.4(HIBCH):c.663+14T>G
NM_014362.4(HIBCH):c.664-16del
NM_014362.4(HIBCH):c.664-18T>C
NM_014362.4(HIBCH):c.664-2A>G
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
NM_014362.4(HIBCH):c.751-4A>G
NM_014362.4(HIBCH):c.751-5_751-2del
NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly) rs1248460683
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu) rs759563092
NM_014362.4(HIBCH):c.78+17G>A
NM_014362.4(HIBCH):c.783T>G (p.Leu261=) rs2105934861
NM_014362.4(HIBCH):c.79-4A>T
NM_014362.4(HIBCH):c.79-9T>C
NM_014362.4(HIBCH):c.798C>T (p.Asp266=) rs2105934821
NM_014362.4(HIBCH):c.809+19C>T rs1249772787
NM_014362.4(HIBCH):c.809+1G>A rs143746450
NM_014362.4(HIBCH):c.810-4A>G
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter) rs1686562488
NM_014362.4(HIBCH):c.852del (p.Leu284fs) rs1131692017
NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
NM_014362.4(HIBCH):c.891+16T>C
NM_014362.4(HIBCH):c.891+18T>C rs959638999
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) rs786204004
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly) rs751484433
NM_014384.2(ACAD8):c.-67G>A rs112372624
NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp) rs377629003
NM_014384.3(ACAD8):c.*306C>T rs886048027
NM_014384.3(ACAD8):c.*441C>G rs886048028
NM_014384.3(ACAD8):c.*634T>C rs1940131247
NM_014384.3(ACAD8):c.*69G>T rs371730378
NM_014384.3(ACAD8):c.*874C>G rs756666725
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val) rs2136083488
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg) rs995149464
NM_014384.3(ACAD8):c.109+19G>T
NM_014384.3(ACAD8):c.1092+1G>A rs572619478
NM_014384.3(ACAD8):c.1092+1G>C rs572619478
NM_014384.3(ACAD8):c.1092+3_1092+6del rs780925587
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
NM_014384.3(ACAD8):c.110-6C>T rs559628768
NM_014384.3(ACAD8):c.1119C>T (p.His373=)
NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)
NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly) rs1218106884
NM_014384.3(ACAD8):c.1195+10G>A
NM_014384.3(ACAD8):c.1195+1G>A rs1555067461
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA rs2136084544
NM_014384.3(ACAD8):c.1196-4_1196-2del rs1940101302
NM_014384.3(ACAD8):c.1196-9C>G
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile) rs2136075017
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
NM_014384.3(ACAD8):c.133C>T (p.Gln45Ter) rs1591505809
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
NM_014384.3(ACAD8):c.205C>T (p.Gln69Ter)
NM_014384.3(ACAD8):c.210+7G>A
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly) rs377629003
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) rs1591506881
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg) rs886048022
NM_014384.3(ACAD8):c.27C>T (p.Phe9=) rs2136068044
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe) rs948304437
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro) rs2136076309
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val) rs773403936
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala) rs935057058
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter) rs768701760
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys) rs1353919966
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
NM_014384.3(ACAD8):c.380+7G>T rs1335335796
NM_014384.3(ACAD8):c.381-4T>A rs886048023
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg) rs2136078898
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg) rs1301535598
NM_014384.3(ACAD8):c.432A>G (p.Lys144=) rs886048024
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
NM_014384.3(ACAD8):c.453C>T (p.Thr151=) rs1939688110
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp) rs774591276
NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) rs1315587870
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe) rs1274417206
NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
NM_014384.3(ACAD8):c.763G>A (p.Val255Met) rs899220061
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn) rs2136082301
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala) rs1246888184
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
NM_014384.3(ACAD8):c.804T>C (p.Ile268=) rs757519037
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys) rs371156848
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr) rs1317315596
NM_014384.3(ACAD8):c.841+15G>A rs770612690
NM_014384.3(ACAD8):c.842-19C>T
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp) rs1939865617
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
NM_014384.3(ACAD8):c.867C>A (p.His289Gln) rs121908421
NM_014384.3(ACAD8):c.867C>G (p.His289Gln) rs121908421
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro) rs121908422
NM_014384.3(ACAD8):c.909G>A (p.Lys303=) rs2136082667
NM_014384.3(ACAD8):c.939+1G>T
NM_014384.3(ACAD8):c.940-13C>G
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg) rs577976129
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.120C>T (p.His40=)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs) rs2149323203
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg) rs2149323209
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
NM_015506.3(MMACHC):c.141C>G (p.Thr47=) rs936938761
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.15C>T (p.Val5=) rs902026116
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg) rs750127773
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs) rs1343936481
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.210C>T (p.Cys70=) rs2149323253
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile) rs772225967
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
NM_015506.3(MMACHC):c.231C>T (p.Asp77=) rs2149323265
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=) rs2149323280
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.270T>G (p.Val90=) rs2149323292
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.276+13C>G rs543041810
NM_015506.3(MMACHC):c.276+13C>T
NM_015506.3(MMACHC):c.276+13_276+14del
NM_015506.3(MMACHC):c.276+17T>C
NM_015506.3(MMACHC):c.276+20C>T
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276+5G>A
NM_015506.3(MMACHC):c.276+8A>G
NM_015506.3(MMACHC):c.276+9G>A
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.277-10A>C
NM_015506.3(MMACHC):c.277-13T>C
NM_015506.3(MMACHC):c.277-14G>A
NM_015506.3(MMACHC):c.277-15T>G
NM_015506.3(MMACHC):c.277-17_277-16insA
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-20T>C
NM_015506.3(MMACHC):c.277-2A>G rs202000595
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>T
NM_015506.3(MMACHC):c.277-6T>C
NM_015506.3(MMACHC):c.277-7G>A rs1258697986
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.277-9C>T
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.288G>A (p.Glu96=) rs1643664191
NM_015506.3(MMACHC):c.291G>A (p.Leu97=) rs566356386
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
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.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del) rs1557607881
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
NM_015506.3(MMACHC):c.319G>A (p.Val107Met) rs758730415
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr) rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.339C>G (p.Pro113=) rs2149323560
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met) rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val) rs2149323564
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter) rs2149323575
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del) rs1643666069
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg) rs1006520706
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.366T>A (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.366T>C (p.His122=) rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln) rs1643666556
NM_015506.3(MMACHC):c.369A>T (p.Val123=) rs1643666589
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.393A>C (p.Gln131His) rs2149323606
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter) rs1643667928
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter) rs2149323618
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
NM_015506.3(MMACHC):c.429+12A>C
NM_015506.3(MMACHC):c.429+13del
NM_015506.3(MMACHC):c.429+14T>A
NM_015506.3(MMACHC):c.429+14T>C
NM_015506.3(MMACHC):c.429+18_429+21del
NM_015506.3(MMACHC):c.429+1G>C rs1643668441
NM_015506.3(MMACHC):c.429+20T>C
NM_015506.3(MMACHC):c.429+20T>G
NM_015506.3(MMACHC):c.429+7G>A rs1227206156
NM_015506.3(MMACHC):c.429+7_429+31del rs2149323628
NM_015506.3(MMACHC):c.429+9G>C
NM_015506.3(MMACHC):c.430-10C>A
NM_015506.3(MMACHC):c.430-10C>T rs550692873
NM_015506.3(MMACHC):c.430-11C>T
NM_015506.3(MMACHC):c.430-12C>T
NM_015506.3(MMACHC):c.430-13A>T
NM_015506.3(MMACHC):c.430-16T>C
NM_015506.3(MMACHC):c.430-2A>G
NM_015506.3(MMACHC):c.430-8C>T rs1217401490
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val) rs74365027
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs) rs2149323799
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys) rs756413692
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
NM_015506.3(MMACHC):c.45G>A (p.Thr15=) rs750623781
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser) rs768353633
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys) rs1002571805
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs) rs2149323826
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) rs1570832855
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs) rs765960386
NM_015506.3(MMACHC):c.490G>A (p.Val164Met) rs1417321919
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.495G>C (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.501A>C (p.Pro167=) rs1366306237
NM_015506.3(MMACHC):c.501A>G (p.Pro167=) rs1366306237
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) rs1643678565
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs) rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.534del (p.Lys178fs) rs2149323872
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.546T>C (p.Cys182=) rs2149323890
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs) rs1553162934
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn) rs748747319
NM_015506.3(MMACHC):c.564C>T (p.Asp188=) rs1397062260
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.573C>T (p.Ala191=) rs750572915
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.579C>G (p.Leu193=) rs766342926
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter) rs796051997
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) rs1643682280
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.616del (p.Arg206fs) rs1163462384
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
NM_015506.3(MMACHC):c.619del (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser) rs192924272
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
NM_015506.3(MMACHC):c.63C>T (p.Phe21=) rs2149320920
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer) rs2149323994
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys) rs483352740
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs) rs1363738186
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala) rs781527733
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
NM_015506.3(MMACHC):c.678A>G (p.Pro226=) rs2149324023
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
NM_015506.3(MMACHC):c.696C>G (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720A>G (p.Ser240=) rs764969563
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.729T>G (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.732T>C (p.Ser244=) rs1173232857
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.753C>A (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.753C>T (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
NM_015506.3(MMACHC):c.762A>G (p.Thr254=) rs771203889
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala) rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=) rs770431439
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs) rs1643689610
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly) rs34258482
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_015506.3(MMACHC):c.81+10T>G rs2149320953
NM_015506.3(MMACHC):c.81+11C>A
NM_015506.3(MMACHC):c.81+13C>G
NM_015506.3(MMACHC):c.81+13C>T
NM_015506.3(MMACHC):c.81+15C>T
NM_015506.3(MMACHC):c.81+17T>C
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015506.3(MMACHC):c.81+1G>C
NM_015506.3(MMACHC):c.81+1G>T
NM_015506.3(MMACHC):c.81+2T>C
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
NM_015506.3(MMACHC):c.813C>T (p.Ser271=) rs1311947307
NM_015506.3(MMACHC):c.816C>A (p.Pro272=) rs754568180
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.82-16G>C
NM_015506.3(MMACHC):c.82-17T>C
NM_015506.3(MMACHC):c.82-18C>T
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.82-2A>G
NM_015506.3(MMACHC):c.82-7G>A
NM_015506.3(MMACHC):c.82-8T>C
NM_015506.3(MMACHC):c.822C>A (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.828A>C (p.Pro276=) rs1288893138
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr) rs1553163019
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer) rs1289618918
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
NM_015506.3:c.275_278del
NM_015702.3(MMADHC):c.-136G>C rs1682898571
NM_015702.3(MMADHC):c.-145A>G rs12477482
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.-62G>A rs886054924
NM_015702.3(MMADHC):c.10-11G>C
NM_015702.3(MMADHC):c.10-13G>A
NM_015702.3(MMADHC):c.10-1G>A
NM_015702.3(MMADHC):c.10-2A>G
NM_015702.3(MMADHC):c.10-3T>C rs886054921
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
NM_015702.3(MMADHC):c.105A>T (p.Gly35=) rs761480889
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=) rs1190732521
NM_015702.3(MMADHC):c.128_129del (p.His43fs) rs1162948308
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) rs864309740
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
NM_015702.3(MMADHC):c.150T>C (p.Asp50=) rs2105049895
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
NM_015702.3(MMADHC):c.154+17A>C
NM_015702.3(MMADHC):c.154+1G>C rs1385597423
NM_015702.3(MMADHC):c.154+20G>C
NM_015702.3(MMADHC):c.154+9A>T rs2105049874
NM_015702.3(MMADHC):c.155-10T>C
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.155-12_155-10del
NM_015702.3(MMADHC):c.155-16T>G
NM_015702.3(MMADHC):c.155-16del
NM_015702.3(MMADHC):c.155-17T>C
NM_015702.3(MMADHC):c.155-2A>G
NM_015702.3(MMADHC):c.155-6C>T
NM_015702.3(MMADHC):c.155-7T>C rs1305728146
NM_015702.3(MMADHC):c.155-8C>G rs1349035917
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) rs1682767724
NM_015702.3(MMADHC):c.168G>A (p.Val56=) rs2105048289
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
NM_015702.3(MMADHC):c.192C>A (p.Pro64=) rs2105048270
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) rs1334273037
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=) rs1327529103
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) rs864309741
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
NM_015702.3(MMADHC):c.249C>T (p.His83=)
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs) rs1553454436
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) rs1573878695
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) rs397509362
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
NM_015702.3(MMADHC):c.309A>T (p.Leu103=) rs1053884096
NM_015702.3(MMADHC):c.30A>G (p.Arg10=) rs749344711
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter) rs2105048127
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
NM_015702.3(MMADHC):c.372+17A>G
NM_015702.3(MMADHC):c.372+1G>T rs755561981
NM_015702.3(MMADHC):c.372+8G>A rs2105048110
NM_015702.3(MMADHC):c.372+8G>C rs2105048110
NM_015702.3(MMADHC):c.372+8G>T
NM_015702.3(MMADHC):c.373-10dup rs1682721920
NM_015702.3(MMADHC):c.373-13T>C
NM_015702.3(MMADHC):c.373-13T>G
NM_015702.3(MMADHC):c.373-14C>G
NM_015702.3(MMADHC):c.373-18T>C
NM_015702.3(MMADHC):c.373-1G>A rs764179800
NM_015702.3(MMADHC):c.373-2A>G
NM_015702.3(MMADHC):c.373-4T>G
NM_015702.3(MMADHC):c.373-5C>A
NM_015702.3(MMADHC):c.373-5C>T
NM_015702.3(MMADHC):c.373-8C>G
NM_015702.3(MMADHC):c.373-8C>T
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
NM_015702.3(MMADHC):c.393A>G (p.Glu131=) rs1682721203
NM_015702.3(MMADHC):c.39C>T (p.Ser13=) rs543128117
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) rs768142805
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) rs864309743
NM_015702.3(MMADHC):c.456A>G (p.Thr152=) rs374470946
NM_015702.3(MMADHC):c.459T>C (p.Cys153=) rs1323984126
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) rs1226772166
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_015702.3(MMADHC):c.478+10G>A
NM_015702.3(MMADHC):c.478+12T>C
NM_015702.3(MMADHC):c.478+15A>T
NM_015702.3(MMADHC):c.478+19T>G
NM_015702.3(MMADHC):c.478+1G>C
NM_015702.3(MMADHC):c.478+7C>A
NM_015702.3(MMADHC):c.478+7C>T rs2105046042
NM_015702.3(MMADHC):c.478+8A>T
NM_015702.3(MMADHC):c.478+9T>C rs1573877066
NM_015702.3(MMADHC):c.479-11_479-9del rs777304368
NM_015702.3(MMADHC):c.479-13T>C
NM_015702.3(MMADHC):c.479-15T>A
NM_015702.3(MMADHC):c.479-18G>C
NM_015702.3(MMADHC):c.479-20A>G
NM_015702.3(MMADHC):c.479-2A>G
NM_015702.3(MMADHC):c.479-4G>A rs2105045611
NM_015702.3(MMADHC):c.479-6T>C rs1682708794
NM_015702.3(MMADHC):c.479-7T>A rs1246748373
NM_015702.3(MMADHC):c.479-7T>C rs1246748373
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
NM_015702.3(MMADHC):c.48A>C (p.Pro16=) rs2105050018
NM_015702.3(MMADHC):c.507T>C (p.Ala169=) rs1347714473
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
NM_015702.3(MMADHC):c.531T>C (p.Thr177=) rs369822209
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
NM_015702.3(MMADHC):c.534A>G (p.Val178=) rs1268371654
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
NM_015702.3(MMADHC):c.544dup (p.Thr182fs) rs1308639482
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
NM_015702.3(MMADHC):c.556_557del (p.Met186fs) rs1682706954
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) rs397509361
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs) rs2105045491
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
NM_015702.3(MMADHC):c.601T>C (p.Leu201=) rs2105045479
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015702.3(MMADHC):c.609+11C>G
NM_015702.3(MMADHC):c.609+13A>G
NM_015702.3(MMADHC):c.609+14T>C
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.609+8T>G
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) rs864309742
NM_015702.3(MMADHC):c.610-12C>T
NM_015702.3(MMADHC):c.610-13A>G
NM_015702.3(MMADHC):c.610-1G>A
NM_015702.3(MMADHC):c.610-4G>A rs776311269
NM_015702.3(MMADHC):c.610-8C>T
NM_015702.3(MMADHC):c.610-8del
NM_015702.3(MMADHC):c.610-9C>A
NM_015702.3(MMADHC):c.610-9C>G
NM_015702.3(MMADHC):c.612C>T (p.Phe204=) rs1573874420
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs) rs2105042265
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter) rs141093638
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) rs2105042238
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
NM_015702.3(MMADHC):c.666T>C (p.Ala222=) rs2105042235
NM_015702.3(MMADHC):c.672T>C (p.Phe224=) rs2105042231
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=) rs766184567
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter) rs2105042210
NM_015702.3(MMADHC):c.696+16T>C
NM_015702.3(MMADHC):c.696+17T>A
NM_015702.3(MMADHC):c.696+3_696+6del rs397509364
NM_015702.3(MMADHC):c.697-10A>G
NM_015702.3(MMADHC):c.697-16G>A
NM_015702.3(MMADHC):c.697-17C>T
NM_015702.3(MMADHC):c.697-18del
NM_015702.3(MMADHC):c.697-21_697-7dup
NM_015702.3(MMADHC):c.697-4T>C
NM_015702.3(MMADHC):c.697-5C>T
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) rs1682618008
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.708A>G (p.Pro236=) rs550333538
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
NM_015702.3(MMADHC):c.714A>C (p.Thr238=) rs2105041533
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) rs549522925
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) rs118204048
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys) rs773493767
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) rs2105041468
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
NM_015702.3(MMADHC):c.795T>C (p.Ile265=) rs1682615780
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) rs2105041421
NM_015702.3(MMADHC):c.819T>C (p.His273=) rs752425275
NM_015702.3(MMADHC):c.822A>G (p.Val274=) rs1474967244
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
NM_015702.3(MMADHC):c.840C>T (p.Phe280=) rs2105041390
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
NM_015702.3(MMADHC):c.864T>C (p.His288=)
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755
NM_015702.3(MMADHC):c.876A>G (p.Lys292=) rs1558844562
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
NM_015702.3(MMADHC):c.885A>C (p.Gly295=) rs746282965
NM_015702.3(MMADHC):c.885A>G (p.Gly295=) rs746282965
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
NM_015702.3(MMADHC):c.9+12A>T
NM_015702.3(MMADHC):c.9+16C>T
NM_015702.3(MMADHC):c.9+17T>A rs372601477
NM_015702.3(MMADHC):c.9+17T>G
NM_015702.3(MMADHC):c.9+18T>G rs2105053453
NM_015702.3(MMADHC):c.9+19A>C
NM_015702.3(MMADHC):c.9+1G>A
NM_015702.3(MMADHC):c.90C>G (p.Ala30=) rs2105049979
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
NM_015702.3(MMADHC):c.96G>T (p.Ser32=) rs1366609158
NM_015702.3(MMADHC):c.99T>C (p.Thr33=) rs368111926
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.-88C>G rs557851763
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr) rs2149844901
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser) rs1766127830
NM_018368.4(LMBRD1):c.1083+11_1083+14del
NM_018368.4(LMBRD1):c.1083+12A>T
NM_018368.4(LMBRD1):c.1083+15A>C
NM_018368.4(LMBRD1):c.1083+16A>G
NM_018368.4(LMBRD1):c.1084-12dup rs757172535
NM_018368.4(LMBRD1):c.1084-16C>A
NM_018368.4(LMBRD1):c.1084-16C>T
NM_018368.4(LMBRD1):c.1084-1G>A
NM_018368.4(LMBRD1):c.1084-20A>G
NM_018368.4(LMBRD1):c.1084-3dup
NM_018368.4(LMBRD1):c.1084-4del rs757172535
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs) rs2149844541
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr) rs2149844500
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1188+10T>A
NM_018368.4(LMBRD1):c.1188+16A>G
NM_018368.4(LMBRD1):c.1189-12T>G
NM_018368.4(LMBRD1):c.1189-13C>T
NM_018368.4(LMBRD1):c.1189-17C>T
NM_018368.4(LMBRD1):c.1189-19G>C rs767672251
NM_018368.4(LMBRD1):c.1189-1G>A rs2149843526
NM_018368.4(LMBRD1):c.1189-4C>G
NM_018368.4(LMBRD1):c.1189-4C>T rs199650812
NM_018368.4(LMBRD1):c.1189-8C>A
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427
NM_018368.4(LMBRD1):c.1338+1G>C
NM_018368.4(LMBRD1):c.1339-12T>G
NM_018368.4(LMBRD1):c.1339-18T>A
NM_018368.4(LMBRD1):c.1339-8T>C
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs) rs764930914
NM_018368.4(LMBRD1):c.1417+12T>C
NM_018368.4(LMBRD1):c.1418-14A>G
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
NM_018368.4(LMBRD1):c.1509+12T>C rs2149832420
NM_018368.4(LMBRD1):c.1509+13A>G
NM_018368.4(LMBRD1):c.1509+15C>T
NM_018368.4(LMBRD1):c.1509+18A>G
NM_018368.4(LMBRD1):c.1509+20G>A rs116095397
NM_018368.4(LMBRD1):c.1509+7G>A
NM_018368.4(LMBRD1):c.1510-11T>C
NM_018368.4(LMBRD1):c.1510-16T>G
NM_018368.4(LMBRD1):c.1510-4A>G
NM_018368.4(LMBRD1):c.1510-9A>C
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe) rs758878362
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) rs761378514
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val) rs750928457
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
NM_018368.4(LMBRD1):c.246+10A>G
NM_018368.4(LMBRD1):c.246+16C>T
NM_018368.4(LMBRD1):c.247-13C>A
NM_018368.4(LMBRD1):c.247-14T>A
NM_018368.4(LMBRD1):c.247-17G>A
NM_018368.4(LMBRD1):c.247-20A>G
NM_018368.4(LMBRD1):c.247-6T>C
NM_018368.4(LMBRD1):c.247-8T>A rs769329039
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=) rs769952932
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val) rs756284919
NM_018368.4(LMBRD1):c.307+13C>T
NM_018368.4(LMBRD1):c.307+15G>A
NM_018368.4(LMBRD1):c.307+2del
NM_018368.4(LMBRD1):c.308-17A>G
NM_018368.4(LMBRD1):c.308-1G>A
NM_018368.4(LMBRD1):c.308-5C>T
NM_018368.4(LMBRD1):c.308-6C>T
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
NM_018368.4(LMBRD1):c.357C>T (p.Val119=) rs2149877968
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys) rs1765174962
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
NM_018368.4(LMBRD1):c.399del (p.Lys133fs) rs1562112648
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.405+17T>A
NM_018368.4(LMBRD1):c.405+18A>G
NM_018368.4(LMBRD1):c.405+19G>C
NM_018368.4(LMBRD1):c.405+2T>C
NM_018368.4(LMBRD1):c.405+9C>A
NM_018368.4(LMBRD1):c.406-18T>C
NM_018368.4(LMBRD1):c.406-8G>A
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
NM_018368.4(LMBRD1):c.473+10G>C
NM_018368.4(LMBRD1):c.473+11A>T
NM_018368.4(LMBRD1):c.474-16A>G
NM_018368.4(LMBRD1):c.474-4G>A
NM_018368.4(LMBRD1):c.474-6T>C
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
NM_018368.4(LMBRD1):c.562+10G>T
NM_018368.4(LMBRD1):c.562+13T>C
NM_018368.4(LMBRD1):c.562+14T>G
NM_018368.4(LMBRD1):c.562+15T>C
NM_018368.4(LMBRD1):c.562+18del
NM_018368.4(LMBRD1):c.562+18dup
NM_018368.4(LMBRD1):c.562+1G>C
NM_018368.4(LMBRD1):c.562+1G>T
NM_018368.4(LMBRD1):c.562+4_562+7del
NM_018368.4(LMBRD1):c.562+7A>G
NM_018368.4(LMBRD1):c.563-10T>G
NM_018368.4(LMBRD1):c.563-11T>C rs1767012664
NM_018368.4(LMBRD1):c.563-13del
NM_018368.4(LMBRD1):c.563-15T>A
NM_018368.4(LMBRD1):c.563-18G>A
NM_018368.4(LMBRD1):c.563-19A>C
NM_018368.4(LMBRD1):c.563-19A>G
NM_018368.4(LMBRD1):c.563-20_563-19del
NM_018368.4(LMBRD1):c.563-6del
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=) rs2149901083
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
NM_018368.4(LMBRD1):c.636+13G>A
NM_018368.4(LMBRD1):c.636+18A>G
NM_018368.4(LMBRD1):c.636+19A>C
NM_018368.4(LMBRD1):c.636+7G>T
NM_018368.4(LMBRD1):c.637-15T>A
NM_018368.4(LMBRD1):c.637-15T>C
NM_018368.4(LMBRD1):c.637-8T>C
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser) rs2149856480
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys) rs2149856461
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
NM_018368.4(LMBRD1):c.69+10G>T
NM_018368.4(LMBRD1):c.69+11C>G
NM_018368.4(LMBRD1):c.69+11C>T
NM_018368.4(LMBRD1):c.69+12G>A
NM_018368.4(LMBRD1):c.69+15T>C
NM_018368.4(LMBRD1):c.69+17G>C
NM_018368.4(LMBRD1):c.69+1G>A
NM_018368.4(LMBRD1):c.69+20T>C
NM_018368.4(LMBRD1):c.69+2T>G
NM_018368.4(LMBRD1):c.69+8dup
NM_018368.4(LMBRD1):c.69+9G>A
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=) rs753043203
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
NM_018368.4(LMBRD1):c.70-20C>G
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln) rs1766553572
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
NM_018368.4(LMBRD1):c.762+11G>A
NM_018368.4(LMBRD1):c.762+12T>C
NM_018368.4(LMBRD1):c.762+15T>C
NM_018368.4(LMBRD1):c.762+1G>A
NM_018368.4(LMBRD1):c.762+7T>G
NM_018368.4(LMBRD1):c.763-10T>C
NM_018368.4(LMBRD1):c.763-11G>C
NM_018368.4(LMBRD1):c.763-13C>A
NM_018368.4(LMBRD1):c.763-19T>G
NM_018368.4(LMBRD1):c.763-2A>C
NM_018368.4(LMBRD1):c.763-2A>G
NM_018368.4(LMBRD1):c.763-6_771del
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
NM_018368.4(LMBRD1):c.915+16A>G
NM_018368.4(LMBRD1):c.915+16A>T
NM_018368.4(LMBRD1):c.915+18A>T
NM_018368.4(LMBRD1):c.915+19A>G
NM_018368.4(LMBRD1):c.916-13T>C
NM_018368.4(LMBRD1):c.916-7C>T
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val) rs1409901040
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val) rs2149845543
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
NM_018368.4(LMBRD1):c.980+10G>A
NM_018368.4(LMBRD1):c.980+13G>A
NM_018368.4(LMBRD1):c.980+14A>G
NM_018368.4(LMBRD1):c.980+15C>T
NM_018368.4(LMBRD1):c.980+3A>G
NM_018368.4(LMBRD1):c.981-10T>A
NM_018368.4(LMBRD1):c.981-10T>C
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458
NM_018368.4(LMBRD1):c.981-17T>C
NM_018368.4(LMBRD1):c.981-3del
NM_018368.4(LMBRD1):c.981-4T>G
NM_018368.4(LMBRD1):c.981-4_981-3dup
NM_018368.4(LMBRD1):c.981-8T>A
NM_018368.4(LMBRD1):c.981-9T>A rs2149844964
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) rs766881860
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
NM_020166.4(MCCC1):c.-101C>T rs886058210
NM_020166.4(MCCC1):c.-102C>A rs543130921
NM_020166.4(MCCC1):c.-132C>T rs529095789
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn) rs1714478055
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala) rs1714474829
NM_020166.5(MCCC1):c.1068G>A (p.Val356=) rs1175377728
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=) rs773029355
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=) rs2108486547
NM_020166.5(MCCC1):c.1083+15dup rs377092260
NM_020166.5(MCCC1):c.1083+16C>G
NM_020166.5(MCCC1):c.1083+9A>T rs376902416
NM_020166.5(MCCC1):c.1084-1G>C rs2108479565
NM_020166.5(MCCC1):c.1084-6T>C
NM_020166.5(MCCC1):c.1084-8A>G
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=) rs777891780
NM_020166.5(MCCC1):c.1114del (p.Gln372fs)
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) rs755328329
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=) rs752061963
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val) rs2108479414
NM_020166.5(MCCC1):c.1126del (p.Thr376fs)
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter) rs2108479383
NM_020166.5(MCCC1):c.1133dup (p.His380fs)
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup) rs2108479359
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln) rs1714100545
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) rs1285687401
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter) rs2108479136
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) rs1016870729
NM_020166.5(MCCC1):c.1210dup (p.His404fs) rs1577276144
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro) rs1714092180
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) rs1577276072
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly) rs1484347924
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) rs1714087455
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter) rs2108569910
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs) rs2108478897
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) rs2108478875
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter) rs2108478837
NM_020166.5(MCCC1):c.1267+15A>G
NM_020166.5(MCCC1):c.1267+9A>G rs2108478831
NM_020166.5(MCCC1):c.1268-18C>T
NM_020166.5(MCCC1):c.1268-18del
NM_020166.5(MCCC1):c.1268-19C>A
NM_020166.5(MCCC1):c.1268-19C>T
NM_020166.5(MCCC1):c.1268-20A>C
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.1268-6T>C
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn) rs1713861760
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp) rs2108474014
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=) rs759359909
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.1317G>A (p.Val439=) rs1713855580
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter) rs1453886049
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+18T>A
NM_020166.5(MCCC1):c.136+18T>G
NM_020166.5(MCCC1):c.136+8C>G
NM_020166.5(MCCC1):c.136+9A>G
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137-15T>C
NM_020166.5(MCCC1):c.137-18dup
NM_020166.5(MCCC1):c.137-7T>A
NM_020166.5(MCCC1):c.1377+16C>A
NM_020166.5(MCCC1):c.1377+6T>G rs1369902442
NM_020166.5(MCCC1):c.1378-17G>C
NM_020166.5(MCCC1):c.1378-17del
NM_020166.5(MCCC1):c.1378-1G>T rs2108470990
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val) rs2108470950
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=) rs2108470855
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val) rs565662458
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=) rs565662458
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu) rs1560219876
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg) rs1290771044
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=) rs200216718
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=) rs1351299439
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) rs1713701795
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=) rs2108470530
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) rs1713693597
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=) rs1713694212
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.156C>T (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
NM_020166.5(MCCC1):c.1594+10G>T
NM_020166.5(MCCC1):c.1594+12T>A
NM_020166.5(MCCC1):c.1594+12T>C
NM_020166.5(MCCC1):c.1594+1G>A rs966900131
NM_020166.5(MCCC1):c.1594+3A>G
NM_020166.5(MCCC1):c.1594+9G>A
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1595-2A>G rs1235781420
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.5(MCCC1):c.1605_1606del (p.Pro536fs)
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter) rs2108461735
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)
NM_020166.5(MCCC1):c.1669delinsAA (p.Asp557fs)
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter)
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1681+10G>A
NM_020166.5(MCCC1):c.1681+13T>C
NM_020166.5(MCCC1):c.1681+2dup
NM_020166.5(MCCC1):c.1681+5G>A
NM_020166.5(MCCC1):c.1681+7A>G
NM_020166.5(MCCC1):c.1681+9T>C rs2108461619
NM_020166.5(MCCC1):c.1682-12T>C
NM_020166.5(MCCC1):c.1682-16C>T
NM_020166.5(MCCC1):c.1682-17dup
NM_020166.5(MCCC1):c.1682-1G>A
NM_020166.5(MCCC1):c.1682-6A>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1699_1703del (p.Val566_Thr567insTer)
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) rs747015041
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)
NM_020166.5(MCCC1):c.1731+1G>A
NM_020166.5(MCCC1):c.1731+1del
NM_020166.5(MCCC1):c.1731+7C>T
NM_020166.5(MCCC1):c.1732-13del rs770181345
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1732-4dup
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=) rs2108441668
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs)
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=) rs2108441635
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) rs2108441513
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=) rs2108441478
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe) rs1352360605
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=) rs2108441402
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln) rs2108441391
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs) rs2108441358
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) rs1712230544
NM_020166.5(MCCC1):c.1869+1G>A
NM_020166.5(MCCC1):c.1869+7T>A rs2108441301
NM_020166.5(MCCC1):c.1869+9T>C
NM_020166.5(MCCC1):c.1870-18T>C
NM_020166.5(MCCC1):c.1870-18_1870-16dup
NM_020166.5(MCCC1):c.1870-2A>G
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys) rs2108565998
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) rs1311139055
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
NM_020166.5(MCCC1):c.191_192del (p.Val64fs)
NM_020166.5(MCCC1):c.1937del (p.Gln646fs) rs1712031289
NM_020166.5(MCCC1):c.1943_1944dup (p.Pro649fs) rs2108437770
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1977+13C>T
NM_020166.5(MCCC1):c.1977+4dup rs1488259395
NM_020166.5(MCCC1):c.1977+7A>G rs2108437702
NM_020166.5(MCCC1):c.1977+9A>G rs1712027129
NM_020166.5(MCCC1):c.1977+9A>T
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.1978-8del rs747001867
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) rs569042803
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs)
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile) rs2108565928
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
NM_020166.5(MCCC1):c.2014del (p.Asp672fs)
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr) rs1354787415
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
NM_020166.5(MCCC1):c.2049+15A>C
NM_020166.5(MCCC1):c.2049+9A>G rs1711715793
NM_020166.5(MCCC1):c.2050-15C>T
NM_020166.5(MCCC1):c.2050-19C>T
NM_020166.5(MCCC1):c.2050-2A>G rs2108428908
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) rs751755306
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=) rs1203426656
NM_020166.5(MCCC1):c.207A>G (p.Lys69=) rs1718434052
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs)
NM_020166.5(MCCC1):c.2115del (p.Asn706fs) rs2108428693
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala) rs761521333
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=) rs781286566
NM_020166.5(MCCC1):c.219A>C (p.Val73=) rs1280526570
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs) rs2108565864
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala)
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His) rs1485157465
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro) rs2108565751
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
NM_020166.5(MCCC1):c.264T>C (p.His88=)
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) rs1333663197
NM_020166.5(MCCC1):c.272del (p.Met91fs)
NM_020166.5(MCCC1):c.273+1G>C
NM_020166.5(MCCC1):c.273+4T>C rs949646980
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020166.5(MCCC1):c.274-18G>A
NM_020166.5(MCCC1):c.274-20A>G
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) rs1717925328
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr) rs776254500
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) rs1177891822
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) rs1177891822
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) rs144872258
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) rs1717919066
NM_020166.5(MCCC1):c.336A>G (p.Lys112=) rs1204945524
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
NM_020166.5(MCCC1):c.341_344del (p.Ile114fs)
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) rs2108553502
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) rs754963220
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)
NM_020166.5(MCCC1):c.369+12G>A
NM_020166.5(MCCC1):c.369+14A>G
NM_020166.5(MCCC1):c.369+2T>C
NM_020166.5(MCCC1):c.370-16T>G rs1716772551
NM_020166.5(MCCC1):c.370-4C>A
NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter) rs2108528645
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) rs761110034
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val) rs2108528600
NM_020166.5(MCCC1):c.393del (p.Leu132fs)
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly) rs2108528559
NM_020166.5(MCCC1):c.411A>G (p.Glu137=) rs2108528534
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr) rs1436217339
NM_020166.5(MCCC1):c.423T>G (p.Leu141=) rs2108528517
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) rs1716766263
NM_020166.5(MCCC1):c.435del (p.Gly146fs) rs1486240538
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer)
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp) rs2108528467
NM_020166.5(MCCC1):c.453C>T (p.Gly151=) rs1716764203
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser) rs1022408190
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu) rs1182086058
NM_020166.5(MCCC1):c.462A>G (p.Pro154=) rs1010978187
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln) rs747747680
NM_020166.5(MCCC1):c.48del (p.Asn17fs)
NM_020166.5(MCCC1):c.491+10T>C
NM_020166.5(MCCC1):c.491+13A>G
NM_020166.5(MCCC1):c.491+14T>G
NM_020166.5(MCCC1):c.491+8T>C
NM_020166.5(MCCC1):c.492-11C>G
NM_020166.5(MCCC1):c.492-16C>A
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe) rs2108526692
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr) rs2108526676
NM_020166.5(MCCC1):c.519T>C (p.Ala173=) rs2108526654
NM_020166.5(MCCC1):c.51C>T (p.Asn17=) rs557695078
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) rs1716671130
NM_020166.5(MCCC1):c.532del (p.Val178fs)
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) rs2108526606
NM_020166.5(MCCC1):c.548del (p.Gly183fs)
NM_020166.5(MCCC1):c.556del (p.Gln186fs) rs2108526541
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
NM_020166.5(MCCC1):c.570C>A (p.Cys190Ter) rs537827975
NM_020166.5(MCCC1):c.582C>T (p.His194=)
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) rs1716663064
NM_020166.5(MCCC1):c.59A>G (p.His20Arg) rs751663186
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr) rs1406515651
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) rs759345755
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
NM_020166.5(MCCC1):c.635del (p.Gly212fs) rs2108526355
NM_020166.5(MCCC1):c.639+11G>T rs1716653818
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA rs1716653595
NM_020166.5(MCCC1):c.639+16C>G
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_020166.5(MCCC1):c.639+6A>T
NM_020166.5(MCCC1):c.639+7T>G
NM_020166.5(MCCC1):c.639+8T>G
NM_020166.5(MCCC1):c.639+9G>A
NM_020166.5(MCCC1):c.640-10T>C rs1011275855
NM_020166.5(MCCC1):c.640-16A>G
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640-5C>A rs892786406
NM_020166.5(MCCC1):c.640-7C>G rs1414857427
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.648G>A (p.Arg216=) rs2108526043
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs)
NM_020166.5(MCCC1):c.660A>C (p.Ser220=) rs2108526023
NM_020166.5(MCCC1):c.66C>G (p.Leu22=) rs750778690
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) rs779412317
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) rs1716637067
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
NM_020166.5(MCCC1):c.69G>A (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys) rs2108525897
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)
NM_020166.5(MCCC1):c.704del (p.Ala235fs) rs1577328234
NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer)
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) rs369227006
NM_020166.5(MCCC1):c.738C>A (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
NM_020166.5(MCCC1):c.761+1G>A
NM_020166.5(MCCC1):c.762-13del
NM_020166.5(MCCC1):c.762-2A>G
NM_020166.5(MCCC1):c.762-2_762-1del rs2108505736
NM_020166.5(MCCC1):c.762-9T>C rs2108505742
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser) rs149389595
NM_020166.5(MCCC1):c.763C>A (p.His255Asn) rs952365421
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala) rs1315920706
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer)
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) rs1715498129
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn) rs2108505562
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) rs1715495987
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) rs1267237320
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) rs2108505485
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu) rs201041864
NM_020166.5(MCCC1):c.873+16A>G
NM_020166.5(MCCC1):c.873+17G>C
NM_020166.5(MCCC1):c.873+17G>T
NM_020166.5(MCCC1):c.873+1G>A
NM_020166.5(MCCC1):c.873_873+3dup rs2108505458
NM_020166.5(MCCC1):c.874-13A>T
NM_020166.5(MCCC1):c.874-15A>T
NM_020166.5(MCCC1):c.874-18T>A
NM_020166.5(MCCC1):c.874-4A>G
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.874-6dup rs755494348
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) rs1383349919
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
NM_020166.5(MCCC1):c.89+12G>A
NM_020166.5(MCCC1):c.89+16A>G
NM_020166.5(MCCC1):c.89+17T>C
NM_020166.5(MCCC1):c.89+1G>A rs771730236
NM_020166.5(MCCC1):c.89+2_89+4del
NM_020166.5(MCCC1):c.89+8G>A
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
NM_020166.5(MCCC1):c.90-12T>C
NM_020166.5(MCCC1):c.90-19T>G
NM_020166.5(MCCC1):c.90-1G>A
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020166.5(MCCC1):c.90-5T>C
NM_020166.5(MCCC1):c.90-7G>A rs1490296486
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser) rs1191290699
NM_020166.5(MCCC1):c.918A>C (p.Ala306=) rs1715030459
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr) rs1715029507
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val) rs1577295874
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs) rs2108496973
NM_020166.5(MCCC1):c.955+10G>T rs1004658113
NM_020166.5(MCCC1):c.955+16C>T
NM_020166.5(MCCC1):c.955+1G>A rs1340827377
NM_020166.5(MCCC1):c.955+1G>T
NM_020166.5(MCCC1):c.955+6T>C
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
NM_020166.5(MCCC1):c.956-10dup rs747546545
NM_020166.5(MCCC1):c.956-15T>C
NM_020166.5(MCCC1):c.956-19A>G
NM_020166.5(MCCC1):c.956-7C>G
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu) rs2108486818
NM_020166.5(MCCC1):c.960del (p.Val321fs)
NM_020166.5(MCCC1):c.969T>C (p.Phe323=) rs2108486797
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.99G>A (p.Val33=) rs1718607448
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.*1591A>C rs1388895100
NM_022132.5(MCCC2):c.*1650G>A rs902451036
NM_022132.5(MCCC2):c.*16T>A rs1747596046
NM_022132.5(MCCC2):c.*246A>G rs965261367
NM_022132.5(MCCC2):c.*700G>T rs972036465
NM_022132.5(MCCC2):c.*843A>C rs1747622599
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.*970G>A rs368250327
NM_022132.5(MCCC2):c.-117A>G rs11746722
NM_022132.5(MCCC2):c.1000-17G>A
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr) rs980603424
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
NM_022132.5(MCCC2):c.1072+12A>T
NM_022132.5(MCCC2):c.1072+14G>A
NM_022132.5(MCCC2):c.1072+17T>C
NM_022132.5(MCCC2):c.1072+1G>A
NM_022132.5(MCCC2):c.1072+9G>A rs779091338
NM_022132.5(MCCC2):c.1073-12C>G
NM_022132.5(MCCC2):c.1073-27T>C
NM_022132.5(MCCC2):c.1073-9T>C
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln) rs991211481
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
NM_022132.5(MCCC2):c.1103del (p.Gly368fs) rs756218448
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=) rs758139797
NM_022132.5(MCCC2):c.1131_1132del (p.Phe377_Ser378insTer)
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
NM_022132.5(MCCC2):c.1149+1G>A rs2112460011
NM_022132.5(MCCC2):c.1149+1G>T rs2112460011
NM_022132.5(MCCC2):c.114C>T (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.1150-17A>G
NM_022132.5(MCCC2):c.1150-17_1150-16del rs904388490
NM_022132.5(MCCC2):c.1150-1G>A
NM_022132.5(MCCC2):c.1150-2A>G
NM_022132.5(MCCC2):c.1150-4A>G
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg) rs781478040
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=) rs2112463698
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) rs531994517
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala) rs2112463755
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=) rs2112463773
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln) rs2112463776
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=)
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=)
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
NM_022132.5(MCCC2):c.1216+12G>T
NM_022132.5(MCCC2):c.1216+19del
NM_022132.5(MCCC2):c.1216+1G>A
NM_022132.5(MCCC2):c.1216+1G>T
NM_022132.5(MCCC2):c.1216+2T>A rs1554138265
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.1217-10T>G rs2112467673
NM_022132.5(MCCC2):c.1217-16C>G
NM_022132.5(MCCC2):c.1217-16C>T
NM_022132.5(MCCC2):c.1217-19T>C
NM_022132.5(MCCC2):c.1217-6_1217-3del
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile) rs1373747202
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
NM_022132.5(MCCC2):c.1234del (p.Glu412fs)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) rs371587906
NM_022132.5(MCCC2):c.123C>T (p.Leu41=)
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys) rs1580262373
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=) rs1747359129
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile) rs1747359594
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=) rs752877391
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu) rs2112467816
NM_022132.5(MCCC2):c.129+10G>A
NM_022132.5(MCCC2):c.129+16C>T
NM_022132.5(MCCC2):c.129+17G>C
NM_022132.5(MCCC2):c.129+1G>T rs1744812773
NM_022132.5(MCCC2):c.129+7T>C
NM_022132.5(MCCC2):c.129+8G>C
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.129G>A (p.Gln43=) rs1580262388
NM_022132.5(MCCC2):c.130-16T>C
NM_022132.5(MCCC2):c.130-20C>A
NM_022132.5(MCCC2):c.130-2A>G
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs) rs2112467862
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter)
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)
NM_022132.5(MCCC2):c.1373+16T>G
NM_022132.5(MCCC2):c.1373+2T>G rs2112468012
NM_022132.5(MCCC2):c.1374-15C>T
NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser)
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp) rs201060452
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu)
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=) rs758144158
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter)
NM_022132.5(MCCC2):c.1488+103G>C rs169406
NM_022132.5(MCCC2):c.1488+113G>A rs182191
NM_022132.5(MCCC2):c.1488+11T>C
NM_022132.5(MCCC2):c.1488+15C>T
NM_022132.5(MCCC2):c.1488+18T>G
NM_022132.5(MCCC2):c.1488+1G>A rs2112469361
NM_022132.5(MCCC2):c.1488+8T>A
NM_022132.5(MCCC2):c.1488+9C>G rs1561848361
NM_022132.5(MCCC2):c.1489-10T>C
NM_022132.5(MCCC2):c.1489-111T>G rs6888301
NM_022132.5(MCCC2):c.1489-16G>A rs1747467303
NM_022132.5(MCCC2):c.1489-3T>A
NM_022132.5(MCCC2):c.1489-4T>C rs1747467560
NM_022132.5(MCCC2):c.1489-5T>C
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) rs1580334193
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) rs1391085331
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=) rs140220101
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu)
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=) rs1315911728
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser) rs1747471598
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys) rs2112472855
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe) rs1747472048
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro) rs774241918
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+15A>G
NM_022132.5(MCCC2):c.1574+1G>T rs730880265
NM_022132.5(MCCC2):c.1574+3G>T
NM_022132.5(MCCC2):c.1574+5G>T rs781483923
NM_022132.5(MCCC2):c.1574+73G>A rs2242372
NM_022132.5(MCCC2):c.1574+7dup
NM_022132.5(MCCC2):c.1575-10C>A
NM_022132.5(MCCC2):c.1575-10C>T rs1303395410
NM_022132.5(MCCC2):c.1575-15T>C
NM_022132.5(MCCC2):c.1575-15_1575-14del
NM_022132.5(MCCC2):c.1575-5G>T rs924068629
NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter)
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) rs1747591661
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe) rs2112478243
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=) rs2112478257
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=)
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=) rs764970690
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=)
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr) rs758806872
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=) rs781648337
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile) rs1049171546
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=) rs1200111967
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu) rs2112478390
NM_022132.5(MCCC2):c.1674del (p.Phe558fs) rs1747594910
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp)
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) rs752593298
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
NM_022132.5(MCCC2):c.185A>G (p.His62Arg) rs1745040815
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter) rs796051989
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
NM_022132.5(MCCC2):c.196+19C>A
NM_022132.5(MCCC2):c.196+3A>G rs751519858
NM_022132.5(MCCC2):c.197-7A>G
NM_022132.5(MCCC2):c.197-9C>G rs2112293394
NM_022132.5(MCCC2):c.210A>G (p.Lys70=) rs2112293469
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu) rs140027063
NM_022132.5(MCCC2):c.237A>G (p.Gly79=) rs2112293709
NM_022132.5(MCCC2):c.244T>C (p.Leu82=) rs2112293727
NM_022132.5(MCCC2):c.246G>A (p.Leu82=) rs1427801007
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg) rs1414470105
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly) rs1745187009
NM_022132.5(MCCC2):c.252A>G (p.Arg84=) rs1295786119
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) rs1554133471
NM_022132.5(MCCC2):c.281+10T>G
NM_022132.5(MCCC2):c.281+14C>T
NM_022132.5(MCCC2):c.281+1G>T rs1580273474
NM_022132.5(MCCC2):c.281+1del
NM_022132.5(MCCC2):c.281+2T>C
NM_022132.5(MCCC2):c.281+5G>T
NM_022132.5(MCCC2):c.282-15C>T
NM_022132.5(MCCC2):c.282-1G>C
NM_022132.5(MCCC2):c.282-9T>C rs1464131809
NM_022132.5(MCCC2):c.282-9_285del rs2112308599
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala) rs770208071
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.5(MCCC2):c.314del (p.Gly105fs)
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter) rs2112308910
NM_022132.5(MCCC2):c.321G>A (p.Gln107=) rs2112308941
NM_022132.5(MCCC2):c.324A>G (p.Leu108=) rs2112308948
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
NM_022132.5(MCCC2):c.342G>A (p.Val114=)
NM_022132.5(MCCC2):c.342del (p.Pro115fs) rs2112309156
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter) rs398124372
NM_022132.5(MCCC2):c.383+4A>G rs1745349543
NM_022132.5(MCCC2):c.384-10T>C
NM_022132.5(MCCC2):c.384-2A>G rs1745476784
NM_022132.5(MCCC2):c.384-8C>G rs2112319784
NM_022132.5(MCCC2):c.384-9G>A rs2112319771
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser) rs1468231692
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp) rs1745481314
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys) rs2112320371
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=) rs1745482068
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly) rs2112320728
NM_022132.5(MCCC2):c.489C>T (p.Asn163=) rs774803841
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
NM_022132.5(MCCC2):c.511+10del
NM_022132.5(MCCC2):c.511+11A>C
NM_022132.5(MCCC2):c.511+13A>T
NM_022132.5(MCCC2):c.511+14G>T
NM_022132.5(MCCC2):c.511+1G>A rs1165990855
NM_022132.5(MCCC2):c.511+1G>T
NM_022132.5(MCCC2):c.511+20A>G
NM_022132.5(MCCC2):c.511+2_511+3delinsGG
NM_022132.5(MCCC2):c.512-14T>A rs765487963
NM_022132.5(MCCC2):c.512-19T>G
NM_022132.5(MCCC2):c.512-1G>A rs1282502867
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
NM_022132.5(MCCC2):c.528A>T (p.Ala176=) rs753733837
NM_022132.5(MCCC2):c.529del (p.Tyr177fs)
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter) rs2112328709
NM_022132.5(MCCC2):c.537T>A (p.Pro179=) rs1275219211
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.540A>G (p.Arg180=) rs2112328806
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.54C>T (p.Ala18=)
NM_022132.5(MCCC2):c.552G>A (p.Val184=)
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.557del (p.Pro186fs) rs1745582317
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu) rs575600077
NM_022132.5(MCCC2):c.567C>T (p.Asp189=)
NM_022132.5(MCCC2):c.569A>G (p.His190Arg) rs119103225
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His) rs2112329234
NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter)
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val) rs2112329325
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)
NM_022132.5(MCCC2):c.608del (p.Ser203fs)
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr) rs1745586663
NM_022132.5(MCCC2):c.618T>C (p.Ile206=) rs2112329401
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser) rs2112329415
NM_022132.5(MCCC2):c.624+10C>A rs2112329449
NM_022132.5(MCCC2):c.624+15A>C
NM_022132.5(MCCC2):c.624+15A>G
NM_022132.5(MCCC2):c.625-15G>A
NM_022132.5(MCCC2):c.625-18C>T
NM_022132.5(MCCC2):c.625-19T>C
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
NM_022132.5(MCCC2):c.630A>G (p.Ala210=) rs760020328
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
NM_022132.5(MCCC2):c.663C>T (p.Ala221=) rs978623277
NM_022132.5(MCCC2):c.663del (p.Tyr222fs)
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
NM_022132.5(MCCC2):c.672T>C (p.Pro224=) rs1337800475
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met) rs991996366
NM_022132.5(MCCC2):c.699A>G (p.Val233=) rs2112412515
NM_022132.5(MCCC2):c.69del (p.His24fs)
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
NM_022132.5(MCCC2):c.708G>A (p.Gln236=) rs2112412564
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.70del (p.His24fs)
NM_022132.5(MCCC2):c.714C>T (p.Thr238=) rs200849501
NM_022132.5(MCCC2):c.720C>T (p.Phe240=)
NM_022132.5(MCCC2):c.726A>G (p.Ala242=) rs2112412678
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala) rs770351523
NM_022132.5(MCCC2):c.729A>C (p.Gly243=) rs535377555
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_022132.5(MCCC2):c.735del (p.Leu246fs)
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.738+11A>G
NM_022132.5(MCCC2):c.738+17G>A
NM_022132.5(MCCC2):c.738+2T>G
NM_022132.5(MCCC2):c.738+2dup rs2112412775
NM_022132.5(MCCC2):c.738+6A>G
NM_022132.5(MCCC2):c.738+8C>A rs1746541390
NM_022132.5(MCCC2):c.739-11C>T
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_022132.5(MCCC2):c.739-4G>T
NM_022132.5(MCCC2):c.739-7G>C rs765082065
NM_022132.5(MCCC2):c.739-8T>C
NM_022132.5(MCCC2):c.739-9T>C
NM_022132.5(MCCC2):c.739del rs1463802125
NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)
NM_022132.5(MCCC2):c.759_760delinsC (p.Glu253fs)
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
NM_022132.5(MCCC2):c.765A>G (p.Val255=) rs1405840387
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs) rs2112251301
NM_022132.5(MCCC2):c.786T>G (p.Gly262=) rs1041557611
NM_022132.5(MCCC2):c.789del (p.Asp264fs)
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro) rs1746740255
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly) rs756477001
NM_022132.5(MCCC2):c.803+12A>C
NM_022132.5(MCCC2):c.803+13T>C
NM_022132.5(MCCC2):c.803+14G>T
NM_022132.5(MCCC2):c.803+1G>A
NM_022132.5(MCCC2):c.803+2T>C
NM_022132.5(MCCC2):c.803+6A>G
NM_022132.5(MCCC2):c.803+7C>T rs1561840847
NM_022132.5(MCCC2):c.803+9_803+10del rs1561840849
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.804-4G>A
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg) rs2112437351
NM_022132.5(MCCC2):c.822C>T (p.Asp274=) rs2112437391
NM_022132.5(MCCC2):c.823del (p.His275fs) rs2112437401
NM_022132.5(MCCC2):c.826del (p.Trp276fs)
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
NM_022132.5(MCCC2):c.861T>C (p.Thr287=) rs1171847854
NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
NM_022132.5(MCCC2):c.879T>C (p.Asn293=) rs753100774
NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) rs1580319814
NM_022132.5(MCCC2):c.898T>C (p.Leu300=) rs1746869158
NM_022132.5(MCCC2):c.903+13T>C
NM_022132.5(MCCC2):c.903+1G>T rs2112437820
NM_022132.5(MCCC2):c.903+20A>T
NM_022132.5(MCCC2):c.903+2T>G
NM_022132.5(MCCC2):c.903+4A>T
NM_022132.5(MCCC2):c.904-10A>G rs1746872931
NM_022132.5(MCCC2):c.904-15T>C
NM_022132.5(MCCC2):c.904-16A>G
NM_022132.5(MCCC2):c.904-19A>G
NM_022132.5(MCCC2):c.904-2A>T
NM_022132.5(MCCC2):c.90G>A (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.90G>C (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter) rs1746873504
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984
NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr) rs2112438294
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys)
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022132.5(MCCC2):c.960A>C (p.Ile320=) rs1746875605
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs) rs2112438432
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe) rs2112438464
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser) rs2112438533
NM_022132.5(MCCC2):c.987T>C (p.Phe329=) rs2112438541
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile) rs2112251506
NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC rs886054542
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
NM_025136.4(OPA3):c.*2188G>A rs1969330324
NM_025136.4(OPA3):c.*2198C>T rs1969330113
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2662G>A rs1969322157
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2726G>C rs993813343
NM_025136.4(OPA3):c.*2859A>T rs534780094
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C rs1969317127
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3111AGC[3] rs542311224
NM_025136.4(OPA3):c.*3156G>T rs1969314043
NM_025136.4(OPA3):c.*3245C>T rs1969312880
NM_025136.4(OPA3):c.*324GT[1] rs571672143
NM_025136.4(OPA3):c.*3295C>G rs1969311980
NM_025136.4(OPA3):c.*3343TCTTT[2] rs373580645
NM_025136.4(OPA3):c.*3358C>G rs965480314
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T rs1969307390
NM_025136.4(OPA3):c.*3669G>T rs1024454874
NM_025136.4(OPA3):c.*3804G>A rs890552307
NM_025136.4(OPA3):c.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*4132CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*4241C>T rs375276027
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4696ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4771C>G rs972332094
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T rs567309052
NM_025136.4(OPA3):c.*50_*52del rs886054541
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6766C>T rs978118927
NM_025136.4(OPA3):c.*690G>T rs1969355536
NM_025136.4(OPA3):c.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*986del rs377547137
NM_025136.4(OPA3):c.*986dup rs377547137
NM_025136.4(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
NM_025136.4(OPA3):c.127C>G (p.Leu43Val) rs2122529195
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu) rs2122529178
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
NM_025136.4(OPA3):c.135G>A (p.Pro45=) rs553414785
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
NM_025136.4(OPA3):c.142+10A>C rs539476253
NM_025136.4(OPA3):c.142+11C>T
NM_025136.4(OPA3):c.142+12C>A
NM_025136.4(OPA3):c.142+13C>A
NM_025136.4(OPA3):c.142+13C>G
NM_025136.4(OPA3):c.142+13C>T
NM_025136.4(OPA3):c.142+17T>A
NM_025136.4(OPA3):c.142+18T>C rs1969904773
NM_025136.4(OPA3):c.142+1G>A rs1555736793
NM_025136.4(OPA3):c.142+20C>T
NM_025136.4(OPA3):c.142+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.142+3_142+6del
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.142+9G>A
NM_025136.4(OPA3):c.142+9G>C
NM_025136.4(OPA3):c.143-12C>G
NM_025136.4(OPA3):c.143-12C>T
NM_025136.4(OPA3):c.143-13T>G rs1278896715
NM_025136.4(OPA3):c.143-16C>A
NM_025136.4(OPA3):c.143-16C>G
NM_025136.4(OPA3):c.143-16CT[2]
NM_025136.4(OPA3):c.143-17C>T
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC rs1969382362
NM_025136.4(OPA3):c.143-4G>T
NM_025136.4(OPA3):c.143-5C>T rs770452409
NM_025136.4(OPA3):c.143-5dup
NM_025136.4(OPA3):c.143-8C>T rs1315898626
NM_025136.4(OPA3):c.143-9C>A
NM_025136.4(OPA3):c.144G>A (p.Leu48=) rs2122440942
NM_025136.4(OPA3):c.145T>C (p.Tyr49His) rs1384629048
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser) rs2122529643
NM_025136.4(OPA3):c.182T>C (p.Met61Thr) rs1052079541
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
NM_025136.4(OPA3):c.1A>G (p.Met1Val) rs1230629432
NM_025136.4(OPA3):c.201C>T (p.Val67=) rs539986269
NM_025136.4(OPA3):c.201del (p.Ile68fs)
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr) rs760083523
NM_025136.4(OPA3):c.206_258del (p.Lys69fs) rs2122440115
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
NM_025136.4(OPA3):c.213G>A (p.Leu71=) rs1258779986
NM_025136.4(OPA3):c.216C>T (p.Asn72=) rs772750356
NM_025136.4(OPA3):c.217G>T (p.Glu73Ter)
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
NM_025136.4(OPA3):c.227dup (p.Ala77fs)
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
NM_025136.4(OPA3):c.235C>T (p.Leu79=) rs886037828
NM_025136.4(OPA3):c.237G>A (p.Leu79=) rs943536843
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
NM_025136.4(OPA3):c.239G>T (p.Gly80Val) rs2122440257
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.246G>A (p.Glu82=) rs1599964759
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs) rs1555732942
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025136.4(OPA3):c.255C>G (p.Gly85=) rs951025429
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
NM_025136.4(OPA3):c.273C>T (p.Ile91=) rs369545089
NM_025136.4(OPA3):c.274G>A (p.Val92Met) rs752893027
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
NM_025136.4(OPA3):c.279C>T (p.Gly93=) rs1165747962
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
NM_025136.4(OPA3):c.282C>T (p.Gly94=) rs1478895044
NM_025136.4(OPA3):c.287del (p.Cys96fs)
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
NM_025136.4(OPA3):c.289C>T (p.Leu97=) rs755295420
NM_025136.4(OPA3):c.291A>G (p.Leu97=) rs755689286
NM_025136.4(OPA3):c.293T>G (p.Val98Gly) rs967310075
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg) rs1555732924
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del) rs1555736840
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
NM_025136.4(OPA3):c.30G>A (p.Lys10=) rs1131692018
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys) rs80356525
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
NM_025136.4(OPA3):c.317C>T (p.Ala106Val) rs764633370
NM_025136.4(OPA3):c.318G>T (p.Ala106=) rs867188673
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del) rs80356526
NM_025136.4(OPA3):c.327C>G (p.Arg109=) rs2122439641
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln) rs1969907819
NM_025136.4(OPA3):c.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
NM_025136.4(OPA3):c.33G>A (p.Leu11=) rs148805518
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
NM_025136.4(OPA3):c.363G>A (p.Ala121=) rs1371810069
NM_025136.4(OPA3):c.363G>C (p.Ala121=) rs1371810069
NM_025136.4(OPA3):c.363G>T (p.Ala121=) rs1371810069
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
NM_025136.4(OPA3):c.367C>A (p.Arg123=) rs1022155897
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
NM_025136.4(OPA3):c.390G>A (p.Ala130=) rs2122439205
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu) rs758982194
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
NM_025136.4(OPA3):c.397C>T (p.Leu133=) rs2122439146
NM_025136.4(OPA3):c.405G>A (p.Ala135=) rs750848548
NM_025136.4(OPA3):c.40T>C (p.Leu14=) rs2122529532
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.414G>A (p.Ala138=) rs1969373306
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter) rs28937899
NM_025136.4(OPA3):c.417G>A (p.Gln139=) rs2122438987
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) rs1363616568
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro) rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val) rs2122438899
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln) rs775398472
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
NM_025136.4(OPA3):c.431del (p.Pro144fs) rs1205708262
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.444C>G (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.445C>T (p.Leu149=) rs1057523113
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
NM_025136.4(OPA3):c.45del (p.Ile16fs)
NM_025136.4(OPA3):c.462A>C (p.Thr154=) rs2122438569
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
NM_025136.4(OPA3):c.468G>C (p.Leu156=) rs2122438534
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del) rs745544229
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
NM_025136.4(OPA3):c.474G>A (p.Glu158=) rs1969371102
NM_025136.4(OPA3):c.477G>C (p.Val159=)
NM_025136.4(OPA3):c.477G>T (p.Val159=)
NM_025136.4(OPA3):c.483C>G (p.Ala161=) rs2122438328
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp) rs750946088
NM_025136.4(OPA3):c.504G>A (p.Arg168=)
NM_025136.4(OPA3):c.504G>T (p.Arg168=)
NM_025136.4(OPA3):c.507C>G (p.Ser169=) rs757829968
NM_025136.4(OPA3):c.513C>T (p.Ser171=)
NM_025136.4(OPA3):c.514C>T (p.His172Tyr) rs1293731096
NM_025136.4(OPA3):c.516C>T (p.His172=) rs1427115632
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
NM_025136.4(OPA3):c.522G>A (p.Val174=) rs1969369481
NM_025136.4(OPA3):c.531C>T (p.Ser177=) rs2122437966
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.539A>G (p.Ter180Trp) rs1057516497
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_025136.4(OPA3):c.57C>T (p.Val19=) rs1600010212
NM_025136.4(OPA3):c.61A>T (p.Lys21Ter) rs1555736814
NM_025136.4(OPA3):c.66G>T (p.Pro22=) rs1969906893
NM_025136.4(OPA3):c.6G>A (p.Val2=) rs2122529689
NM_025136.4(OPA3):c.6G>C (p.Val2=) rs2122529689
NM_025136.4(OPA3):c.72C>T (p.Ala24=) rs1305459152
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
NM_025136.4(OPA3):c.75C>T (p.Asn25=) rs2122529407
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu) rs1302916174
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
NM_025136.4(OPA3):c.81del (p.Lys28fs)
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp) rs1194417590
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
NM_025136.4(OPA3):c.90C>A (p.Ala30=) rs1600010139
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
NM_025136.4(OPA3):c.97C>T (p.Arg33Ter)
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
NM_030813.6(CLPB):c.654dup (p.Gln219fs) rs1951072912
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
NM_030813.6(CLPB):c.675C>A (p.His225Gln) rs2135658006
NM_030813.6(CLPB):c.675C>T (p.His225=)
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
NM_030813.6(CLPB):c.705G>A (p.Glu235=) rs2135657829
NM_030813.6(CLPB):c.729C>T (p.Pro243=)
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_032861.4(SERAC1):c.*258G>A
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
NM_032861.4(SERAC1):c.1016-31_1016-17del rs374730949
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
NM_032861.4(SERAC1):c.1166+15G>A
NM_032861.4(SERAC1):c.1166+8del rs766776726
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
NM_032861.4(SERAC1):c.1167-15T>C
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=) rs2128412053
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
NM_032861.4(SERAC1):c.128+7C>T
NM_032861.4(SERAC1):c.1308+6G>A
NM_032861.4(SERAC1):c.1309-18A>G
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp) rs553879407
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs) rs780275814
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser) rs767870142
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn) rs189064007
NM_032861.4(SERAC1):c.138A>G (p.Leu46=) rs777425675
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.1403+1G>A rs1131690799
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln) rs1064796860
NM_032861.4(SERAC1):c.1501+16A>C rs369225459
NM_032861.4(SERAC1):c.1501+16A>G rs369225459
NM_032861.4(SERAC1):c.1501+4A>C rs755406082
NM_032861.4(SERAC1):c.1501+4A>G rs755406082
NM_032861.4(SERAC1):c.1501+5G>A
NM_032861.4(SERAC1):c.1502-16C>T
NM_032861.4(SERAC1):c.1502-20T>A rs867006888
NM_032861.4(SERAC1):c.1502-24dup rs780420200
NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del) rs759351997
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg) rs2128410682
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.1684+10T>C
NM_032861.4(SERAC1):c.1684+1G>T rs2128410576
NM_032861.4(SERAC1):c.1684+20A>G
NM_032861.4(SERAC1):c.1684+2T>C
NM_032861.4(SERAC1):c.1684+7C>T rs765831183
NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs)
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
NM_032861.4(SERAC1):c.1829-6C>G
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs) rs2128409409
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His) rs768913919
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro) rs768913919
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
NM_032861.4(SERAC1):c.195G>A (p.Val65=) rs2128422348
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys) rs1784140439
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln) rs1384614641
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly) rs2128422343
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.21C>T (p.Cys7=) rs139301835
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs) rs886041750
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu) rs376468988
NM_032861.4(SERAC1):c.265+11T>C
NM_032861.4(SERAC1):c.265+11del
NM_032861.4(SERAC1):c.266-48dup rs71027384
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs) rs1785136807
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
NM_032861.4(SERAC1):c.356-16T>C rs1785075456
NM_032861.4(SERAC1):c.356-20G>C
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu) rs376922578
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu) rs1785406112
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
NM_032861.4(SERAC1):c.488-3T>G rs2128420377
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg) rs576602246
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) rs564717592
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
NM_032861.4(SERAC1):c.610-17C>G
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter) rs1383515185
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) rs1583589537
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
NM_032861.4(SERAC1):c.738+1927G>C
NM_032861.4(SERAC1):c.738+5G>C
NM_032861.4(SERAC1):c.739-13A>G
NM_032861.4(SERAC1):c.739-15T>A rs1055428813
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser) rs571113650
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
NM_032861.4(SERAC1):c.780T>C (p.Ala260=) rs2128415873
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
NM_032861.4(SERAC1):c.840A>T (p.Val280=) rs2128415848
NM_032861.4(SERAC1):c.852+16A>T
NM_032861.4(SERAC1):c.852+7T>C rs1452026354
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly) rs779737059
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
NM_032861.4(SERAC1):c.91+13T>A
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.91+9A>G
NM_032861.4(SERAC1):c.92-10del
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.92-14_92-10del
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-17C>T rs1785305261
NM_032861.4(SERAC1):c.92-20del
NM_032861.4(SERAC1):c.92-239G>C rs1562458915
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg) rs2128415147
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A rs1883946986
NM_052845.4(MMAB):c.*2150A>G rs781473185
NM_052845.4(MMAB):c.*2326C>G rs1210681751
NM_052845.4(MMAB):c.*2392C>T rs1883900272
NM_052845.4(MMAB):c.*2736G>C rs747163137
NM_052845.4(MMAB):c.*3027T>C rs1883879729
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A rs1883871954
NM_052845.4(MMAB):c.*3296G>A rs777939885
NM_052845.4(MMAB):c.*348T>G rs1883987573
NM_052845.4(MMAB):c.*422T>C rs1883979155
NM_052845.4(MMAB):c.*710C>T rs538702791
NM_052845.4(MMAB):c.-11C>G rs1228106972
NM_052845.4(MMAB):c.-9G>T rs554831769
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
NM_052845.4(MMAB):c.105C>T (p.Arg35=) rs1884735595
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
NM_052845.4(MMAB):c.108C>T (p.Gly36=) rs2136213363
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
NM_052845.4(MMAB):c.116del (p.Gly39fs)
NM_052845.4(MMAB):c.126C>T (p.Asp42=) rs2136213327
NM_052845.4(MMAB):c.132C>T (p.Asp44=) rs747649185
NM_052845.4(MMAB):c.134+10T>G
NM_052845.4(MMAB):c.134+14G>A
NM_052845.4(MMAB):c.134+16del
NM_052845.4(MMAB):c.134+1G>T
NM_052845.4(MMAB):c.134+20G>A
NM_052845.4(MMAB):c.134+2T>A
NM_052845.4(MMAB):c.134+7G>A
NM_052845.4(MMAB):c.135-12A>T
NM_052845.4(MMAB):c.135-19G>A
NM_052845.4(MMAB):c.135-1G>A rs1566137903
NM_052845.4(MMAB):c.135-8C>T rs2136210870
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
NM_052845.4(MMAB):c.144T>G (p.Pro48=) rs2136210832
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys) rs2136210801
NM_052845.4(MMAB):c.165C>T (p.Ile55=) rs2136210798
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.177C>T (p.Tyr59=) rs2136210789
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
NM_052845.4(MMAB):c.189A>G (p.Gly63=) rs2136210776
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
NM_052845.4(MMAB):c.196+13C>G
NM_052845.4(MMAB):c.196+17T>G
NM_052845.4(MMAB):c.196+9G>A
NM_052845.4(MMAB):c.197-12T>C
NM_052845.4(MMAB):c.197-14A>G
NM_052845.4(MMAB):c.197-15C>A
NM_052845.4(MMAB):c.197-1G>A rs763935916
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.197-7T>C
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.1A>C (p.Met1Leu) rs1884749143
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr) rs147297426
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter) rs2136208377
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp) rs1389815526
NM_052845.4(MMAB):c.225G>A (p.Arg75=) rs267603297
NM_052845.4(MMAB):c.23del (p.Ser8fs) rs2136213668
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
NM_052845.4(MMAB):c.243A>G (p.Gln81=) rs1473011297
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser) rs1185132313
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu) rs2136208348
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
NM_052845.4(MMAB):c.258G>A (p.Val86=) rs2136208331
NM_052845.4(MMAB):c.266del (p.Thr89fs)
NM_052845.4(MMAB):c.27T>C (p.Arg9=) rs1311011214
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290+12A>G
NM_052845.4(MMAB):c.290+19G>T
NM_052845.4(MMAB):c.290+1G>A rs1351673148
NM_052845.4(MMAB):c.290+7G>C
NM_052845.4(MMAB):c.290+8G>T
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-15C>G
NM_052845.4(MMAB):c.291-16del
NM_052845.4(MMAB):c.291-18T>C
NM_052845.4(MMAB):c.291-1G>T rs199971687
NM_052845.4(MMAB):c.291-3dup rs2136203965
NM_052845.4(MMAB):c.291-5C>G
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
NM_052845.4(MMAB):c.297T>C (p.Ala99=) rs2136203950
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
NM_052845.4(MMAB):c.2T>C (p.Met1Thr) rs869320655
NM_052845.4(MMAB):c.2T>G (p.Met1Arg) rs869320655
NM_052845.4(MMAB):c.30T>C (p.Leu10=) rs757088429
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
NM_052845.4(MMAB):c.32del (p.Gly11fs)
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
NM_052845.4(MMAB):c.330del (p.Phe110fs) rs2136203888
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp) rs2136203868
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
NM_052845.4(MMAB):c.342T>A (p.Leu114=) rs2136203863
NM_052845.4(MMAB):c.348+11C>T
NM_052845.4(MMAB):c.348+20C>G
NM_052845.4(MMAB):c.348+2_348+3del rs2136203848
NM_052845.4(MMAB):c.349-14C>G
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.349-20C>T
NM_052845.4(MMAB):c.349-4C>G rs2136199982
NM_052845.4(MMAB):c.349-5C>G
NM_052845.4(MMAB):c.349-5C>T rs1228758269
NM_052845.4(MMAB):c.349-6C>T
NM_052845.4(MMAB):c.349-8C>A
NM_052845.4(MMAB):c.349-8C>G rs1468191738
NM_052845.4(MMAB):c.349-8C>T rs1468191738
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
NM_052845.4(MMAB):c.367del (p.Asp123fs) rs1387128853
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.381C>T (p.Ala127=) rs1204546700
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.408G>A (p.Arg136=) rs760995089
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
NM_052845.4(MMAB):c.414T>G (p.Ala138=) rs2136199754
NM_052845.4(MMAB):c.417C>T (p.His139=) rs2136199746
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.421+14T>A rs760915792
NM_052845.4(MMAB):c.421+18G>C
NM_052845.4(MMAB):c.421+1G>A rs2136199734
NM_052845.4(MMAB):c.421+7C>A
NM_052845.4(MMAB):c.422-19del
NM_052845.4(MMAB):c.422-1G>A
NM_052845.4(MMAB):c.422-1G>C rs2136199436
NM_052845.4(MMAB):c.422-5_422-3del rs2136199438
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
NM_052845.4(MMAB):c.432G>A (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys) rs921232728
NM_052845.4(MMAB):c.441G>A (p.Ala147=) rs1038979872
NM_052845.4(MMAB):c.441G>C (p.Ala147=) rs1038979872
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter) rs2136199292
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp) rs1392513631
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter) rs2136199270
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter) rs1884201610
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter) rs2136199221
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe) rs1393437649
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
NM_052845.4(MMAB):c.513C>T (p.Ile171=) rs2136199131
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.519+13C>T
NM_052845.4(MMAB):c.519+16G>A
NM_052845.4(MMAB):c.519+17C>T rs1884195985
NM_052845.4(MMAB):c.519+19T>A
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.520-15C>T
NM_052845.4(MMAB):c.520-18G>A
NM_052845.4(MMAB):c.520-19T>C
NM_052845.4(MMAB):c.520-20A>G
NM_052845.4(MMAB):c.520-4T>C
NM_052845.4(MMAB):c.52C>T (p.Leu18=) rs374802787
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
NM_052845.4(MMAB):c.54G>A (p.Leu18=) rs1884741296
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr) rs767774574
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs) rs2136198361
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla) rs2136198351
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.564G>A (p.Val188=)
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
NM_052845.4(MMAB):c.573G>C (p.Arg191=) rs2136198226
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
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.579G>A (p.Glu193=) rs2136198146
NM_052845.4(MMAB):c.57C>G (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) rs2136198139
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs) rs1592997663
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.584+12G>A
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.584+8G>C
NM_052845.4(MMAB):c.584+9G>C
NM_052845.4(MMAB):c.585-10C>T rs375474421
NM_052845.4(MMAB):c.585-12C>T
NM_052845.4(MMAB):c.585-16T>A
NM_052845.4(MMAB):c.585-16T>C
NM_052845.4(MMAB):c.585-17G>A
NM_052845.4(MMAB):c.585-18T>C
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.585-4C>G rs2136195288
NM_052845.4(MMAB):c.585-9C>T
NM_052845.4(MMAB):c.591G>A (p.Val197=) rs2136195257
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
NM_052845.4(MMAB):c.604A>G (p.Met202Val) rs1884098738
NM_052845.4(MMAB):c.60G>A (p.Gly20=) rs766597566
NM_052845.4(MMAB):c.60G>T (p.Gly20=) rs766597566
NM_052845.4(MMAB):c.615C>G (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
NM_052845.4(MMAB):c.61dup (p.Cys21fs) rs2136213505
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter) rs2136195113
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
NM_052845.4(MMAB):c.644+14A>C
NM_052845.4(MMAB):c.644+17T>C
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.644+7dup
NM_052845.4(MMAB):c.645-16C>A
NM_052845.4(MMAB):c.645-20CT[6]
NM_052845.4(MMAB):c.645-7C>T
NM_052845.4(MMAB):c.645-8C>T
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile) rs2136192612
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs) rs2136192590
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.666G>T (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
NM_052845.4(MMAB):c.66C>T (p.Phe22=) rs765869812
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
NM_052845.4(MMAB):c.732G>C (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.735C>G (p.Ala245=) rs377015836
NM_052845.4(MMAB):c.735C>T (p.Ala245=) rs377015836
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
NM_052845.4(MMAB):c.7G>A (p.Val3Met) rs1884748119
NM_052845.4(MMAB):c.84G>A (p.Leu28=) rs747142605
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter) rs2136213423
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
NM_145261.4(DNAJC19):c.*190ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*528GT[9] rs148074891
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
NM_145261.4(DNAJC19):c.129+7C>T rs2108509597
NM_145261.4(DNAJC19):c.130-4T>C
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu) rs755024172
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val) rs2108508819
NM_145261.4(DNAJC19):c.209+11C>T rs374496383
NM_145261.4(DNAJC19):c.209+19T>C
NM_145261.4(DNAJC19):c.210-12T>A
NM_145261.4(DNAJC19):c.210-14_210-11del
NM_145261.4(DNAJC19):c.210-14_210-13del rs757422860
NM_145261.4(DNAJC19):c.210-18A>G
NM_145261.4(DNAJC19):c.210-2A>G
NM_145261.4(DNAJC19):c.210-4T>C
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser) rs1218208437
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe) rs1714880831
NM_145261.4(DNAJC19):c.280+15A>C
NM_145261.4(DNAJC19):c.280+19C>A rs1203314065
NM_145261.4(DNAJC19):c.280+1_280+5del rs753055824
NM_145261.4(DNAJC19):c.280+4_280+7del
NM_145261.4(DNAJC19):c.281-15T>G
NM_145261.4(DNAJC19):c.281-15dup rs764813798
NM_145261.4(DNAJC19):c.281-21_281-19del
NM_145261.4(DNAJC19):c.281-21_281-20del
NM_145261.4(DNAJC19):c.281-4A>G
NM_145261.4(DNAJC19):c.281-5T>A rs766954639
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=) rs2108506993
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
NM_145261.4(DNAJC19):c.3+13T>C rs2108511019
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val) rs2108506959
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile) rs1715007911
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
NM_145261.4(DNAJC19):c.348del (p.Lys116fs) rs1714802157
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145261.4(DNAJC19):c.4-24_15del
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
NM_145261.4(DNAJC19):c.51del (p.Phe17fs) rs1715007577
NM_145261.4(DNAJC19):c.55+10T>C
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_145261.4(DNAJC19):c.55+20A>T rs1577025780
NM_145261.4(DNAJC19):c.55+5G>C rs1454974888
NM_145261.4(DNAJC19):c.56-17G>C
NM_145261.4(DNAJC19):c.56-7G>T
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) rs752913622
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=) rs145786060
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr) rs2108509645
NM_145261.4(DNAJC19):c.84T>C (p.His28=)
NM_152649.4(MLKL):c.565C>T (p.Pro189Ser)
NM_172250.3(MMAA):c.*1149C>G rs999175069
NM_172250.3(MMAA):c.*1221A>G rs1728241243
NM_172250.3(MMAA):c.*1510C>T rs1045440002
NM_172250.3(MMAA):c.*1558C>G rs998811243
NM_172250.3(MMAA):c.*190C>T rs1728208709
NM_172250.3(MMAA):c.*1924T>C rs886059100
NM_172250.3(MMAA):c.*2343A>G rs886059103
NM_172250.3(MMAA):c.*2445A>C rs886059105
NM_172250.3(MMAA):c.*2448T>C rs914268952
NM_172250.3(MMAA):c.*2479G>T rs886059107
NM_172250.3(MMAA):c.*2646G>A rs999780084
NM_172250.3(MMAA):c.*3125C>T rs886059111
NM_172250.3(MMAA):c.*3213C>T rs1317371212
NM_172250.3(MMAA):c.*3385C>T rs1296968983
NM_172250.3(MMAA):c.*3797A>G rs1578891934
NM_172250.3(MMAA):c.*3880G>A rs1728325081
NM_172250.3(MMAA):c.*3934C>G rs753155141
NM_172250.3(MMAA):c.*4044T>C rs556788892
NM_172250.3(MMAA):c.*4200G>T rs1346413343
NM_172250.3(MMAA):c.*581G>T rs936007824
NM_172250.3(MMAA):c.*611A>C rs1728220748
NM_172250.3(MMAA):c.*661C>T rs1728222063
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.-68C>A rs886059087
NM_172250.3(MMAA):c.-68C>T rs886059087
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg) rs758394680
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
NM_172250.3(MMAA):c.1005C>A (p.Ile335=) rs2126629821
NM_172250.3(MMAA):c.1023A>G (p.Lys341=) rs2126629831
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) rs869320657
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
NM_172250.3(MMAA):c.1044A>C (p.Leu348=) rs754630744
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe) rs866580843
NM_172250.3(MMAA):c.1056T>C (p.Ser352=) rs1302017266
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
NM_172250.3(MMAA):c.1095T>C (p.Val365=) rs2126629917
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
NM_172250.3(MMAA):c.1124del (p.Val375fs)
NM_172250.3(MMAA):c.112del (p.Ile38fs)
NM_172250.3(MMAA):c.1131G>A (p.Glu377=) rs2126629961
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu) rs1728200540
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.1145del (p.His382fs)
NM_172250.3(MMAA):c.1146C>T (p.His382=) rs1186287486
NM_172250.3(MMAA):c.1149C>A (p.Pro383=) rs2126629982
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
NM_172250.3(MMAA):c.1170A>G (p.Pro390=) rs2126630021
NM_172250.3(MMAA):c.1179A>G (p.Glu393=) rs1578888894
NM_172250.3(MMAA):c.117A>G (p.Pro39=) rs2126617113
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val) rs1553959152
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser) rs895867414
NM_172250.3(MMAA):c.1203G>A (p.Leu401=) rs2126630061
NM_172250.3(MMAA):c.1206C>T (p.Ser402=) rs1374931888
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter) rs1728203978
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs) rs2126617138
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.139_140del (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
NM_172250.3(MMAA):c.150T>C (p.His50=) rs2126617181
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
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.166C>T (p.Leu56=) rs2126617212
NM_172250.3(MMAA):c.168G>A (p.Leu56=) rs1396471571
NM_172250.3(MMAA):c.168G>T (p.Leu56=) rs1396471571
NM_172250.3(MMAA):c.170del (p.Leu57fs)
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
NM_172250.3(MMAA):c.1A>G (p.Met1Val) rs1553957856
NM_172250.3(MMAA):c.201A>G (p.Val67=)
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) rs754894257
NM_172250.3(MMAA):c.204A>G (p.Gln68=) rs1727714117
NM_172250.3(MMAA):c.206del (p.Thr69fs) rs1553957901
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro) rs1328208245
NM_172250.3(MMAA):c.21T>C (p.His7=)
NM_172250.3(MMAA):c.222C>T (p.His74=) rs1578877626
NM_172250.3(MMAA):c.240T>C (p.Asp80=) rs2126617322
NM_172250.3(MMAA):c.246G>A (p.Glu82=) rs750230122
NM_172250.3(MMAA):c.255T>C (p.Phe85=) rs2126617358
NM_172250.3(MMAA):c.255del (p.Phe85fs)
NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
NM_172250.3(MMAA):c.267_268del (p.Thr91fs) rs1553957906
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe) rs148404005
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
NM_172250.3(MMAA):c.288G>A (p.Gly96=) rs559279147
NM_172250.3(MMAA):c.290_296del (p.Gln97fs) rs1553957907
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) rs780082584
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
NM_172250.3(MMAA):c.314dup (p.Thr106fs) rs1727720677
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
NM_172250.3(MMAA):c.335A>G (p.His112Arg) rs2126617469
NM_172250.3(MMAA):c.342G>A (p.Arg114=) rs774790573
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
NM_172250.3(MMAA):c.363G>C (p.Val121=) rs2126617517
NM_172250.3(MMAA):c.369T>G (p.Leu123=) rs1418638749
NM_172250.3(MMAA):c.36C>T (p.Phe12=) rs1661385949
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu) rs1727722684
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
NM_172250.3(MMAA):c.388del (p.His130fs)
NM_172250.3(MMAA):c.390C>T (p.His130=)
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172250.3(MMAA):c.39A>C (p.Leu13=) rs1727705456
NM_172250.3(MMAA):c.402A>G (p.Glu134=) rs2126617588
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
NM_172250.3(MMAA):c.405del (p.Gln135fs)
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.414A>G (p.Lys138=) rs1237655127
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
NM_172250.3(MMAA):c.439+12T>G
NM_172250.3(MMAA):c.439+14G>T
NM_172250.3(MMAA):c.439+14del
NM_172250.3(MMAA):c.439+16G>C
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.439+9T>C
NM_172250.3(MMAA):c.440-10dup
NM_172250.3(MMAA):c.440-19A>C
NM_172250.3(MMAA):c.440-2A>G
NM_172250.3(MMAA):c.440-7A>C rs1337205137
NM_172250.3(MMAA):c.440-9C>A
NM_172250.3(MMAA):c.441dup (p.Leu148fs) rs1553958126
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.453C>G (p.Pro151=) rs879110861
NM_172250.3(MMAA):c.455del (p.Pro152fs) rs1553958127
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
NM_172250.3(MMAA):c.468dup (p.Ser157fs) rs2126619930
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
NM_172250.3(MMAA):c.496del (p.Met166fs)
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
NM_172250.3(MMAA):c.513G>A (p.Gly171=) rs2126620000
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
NM_172250.3(MMAA):c.527_528del (p.Val176fs) rs1553958158
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
NM_172250.3(MMAA):c.54del (p.Ala19fs)
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter) rs1727814966
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_172250.3(MMAA):c.562+1G>T rs869320656
NM_172250.3(MMAA):c.562+2T>C
NM_172250.3(MMAA):c.562+4A>C rs1336573288
NM_172250.3(MMAA):c.562+7A>T rs2126620073
NM_172250.3(MMAA):c.562+8T>C
NM_172250.3(MMAA):c.562+9G>A rs2126620076
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.563-17G>A
NM_172250.3(MMAA):c.563-4T>A
NM_172250.3(MMAA):c.564A>T (p.Gly188=) rs1727918663
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp) rs1553958392
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.594dup (p.Glu199Ter) rs1553958395
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
NM_172250.3(MMAA):c.600A>G (p.Leu200=) rs2126622751
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
NM_172250.3(MMAA):c.601del (p.Ser201fs)
NM_172250.3(MMAA):c.603A>G (p.Ser201=) rs2126622760
NM_172250.3(MMAA):c.618A>G (p.Ala206=) rs1727920444
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) rs104893849
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
NM_172250.3(MMAA):c.639del (p.Arg214fs) rs2126622813
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) rs864309730
NM_172250.3(MMAA):c.657C>A (p.Gly219=) rs1291307841
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
NM_172250.3(MMAA):c.659T>C (p.Val220Ala) rs941689476
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu) rs375682603
NM_172250.3(MMAA):c.663A>G (p.Thr221=) rs2126622855
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg) rs2126622891
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter) rs1727922828
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
NM_172250.3(MMAA):c.718C>G (p.Leu240Val) rs752844506
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.729C>A (p.Thr243=)
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
NM_172250.3(MMAA):c.730G>T (p.Val244Phe) rs771044996
NM_172250.3(MMAA):c.733+12A>G
NM_172250.3(MMAA):c.733+16T>G
NM_172250.3(MMAA):c.733+1G>T
NM_172250.3(MMAA):c.733+9G>A
NM_172250.3(MMAA):c.734-13T>C
NM_172250.3(MMAA):c.734-15G>A
NM_172250.3(MMAA):c.734-20G>A
NM_172250.3(MMAA):c.734-9C>A rs756275016
NM_172250.3(MMAA):c.734-9C>T rs756275016
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
NM_172250.3(MMAA):c.762T>C (p.Ala254=) rs1033389087
NM_172250.3(MMAA):c.762dup (p.Asp255Ter) rs1728076151
NM_172250.3(MMAA):c.771T>C (p.Val257=) rs2126627142
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.776T>C (p.Met259Thr) rs1328403056
NM_172250.3(MMAA):c.783T>A (p.Val261=) rs2126627167
NM_172250.3(MMAA):c.783T>G (p.Val261=)
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
NM_172250.3(MMAA):c.78C>T (p.Phe26=) rs2126617065
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs) rs2126627182
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) rs1553958720
NM_172250.3(MMAA):c.816G>A (p.Leu272=) rs1728078075
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
NM_172250.3(MMAA):c.819+11T>G
NM_172250.3(MMAA):c.819+13del
NM_172250.3(MMAA):c.819+19dup
NM_172250.3(MMAA):c.819+8T>C
NM_172250.3(MMAA):c.81C>T (p.Ile27=) rs2126617076
NM_172250.3(MMAA):c.820-10A>C rs2126629035
NM_172250.3(MMAA):c.820-13C>G
NM_172250.3(MMAA):c.820-15T>G
NM_172250.3(MMAA):c.820-1G>A rs1553959017
NM_172250.3(MMAA):c.820-1G>C rs1553959017
NM_172250.3(MMAA):c.820-2A>G
NM_172250.3(MMAA):c.820-7T>C
NM_172250.3(MMAA):c.820-8C>G rs1728162232
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
NM_172250.3(MMAA):c.851del (p.Asp284fs)
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
NM_172250.3(MMAA):c.858A>G (p.Val286=) rs142063642
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp) rs1553959024
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
NM_172250.3(MMAA):c.862G>A (p.Val288Ile) rs886059089
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
NM_172250.3(MMAA):c.875A>T (p.Asp292Val) rs1553959025
NM_172250.3(MMAA):c.885G>A (p.Leu295=) rs2126629113
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter) rs1340736923
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
NM_172250.3(MMAA):c.924T>C (p.Ser308=) rs2126629166
NM_172250.3(MMAA):c.928C>G (p.Leu310Val) rs1728166357
NM_172250.3(MMAA):c.933A>G (p.Lys311=) rs2126629176
NM_172250.3(MMAA):c.936dup (p.Leu313fs)
NM_172250.3(MMAA):c.940del (p.Arg314fs)
NM_172250.3(MMAA):c.942C>A (p.Arg314=) rs773218154
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) rs751717131
NM_172250.3(MMAA):c.957C>T (p.Val319=)
NM_172250.3(MMAA):c.963_969+4del
NM_172250.3(MMAA):c.969+10C>T rs1728168081
NM_172250.3(MMAA):c.969+15A>C
NM_172250.3(MMAA):c.969+15A>G
NM_172250.3(MMAA):c.969+18C>T
NM_172250.3(MMAA):c.969+20G>T
NM_172250.3(MMAA):c.969+9G>A rs1007611523
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
NM_172250.3(MMAA):c.970-19G>T
NM_172250.3(MMAA):c.970-2A>T rs1553959113
NM_172250.3(MMAA):c.970-3dup
NM_172250.3(MMAA):c.970-4A>T rs1728189053
NM_172250.3(MMAA):c.970-5G>T
NM_172250.3(MMAA):c.970G>A (p.Val324Ile) rs1010220185
NM_172250.3(MMAA):c.972A>G (p.Val324=) rs2126629778
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
NM_172250.3(MMAA):c.99T>C (p.His33=) rs2126617089
NM_181697.3(PRDX1):c.515-2A>T rs1379672870
NM_207346.3(TSEN54):c.953del (p.Pro318fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.