ClinVar Miner

List of variants studied for classic organic aciduria

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16500
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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
NC_000010.11:g.123008776G>A 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
NC_000021.9:g.36990257T>C 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_052845.4(MMAB):c.*1729A>C rs559163901 0.06277
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
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
NC_000010.11:g.123008907G>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_000282.4(PCCA):c.*57_*60del 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_000019.4(ACAT1):c.*179T>G rs114728153 0.01290
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_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_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_000282.4(PCCA):c.*115C>T 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_000282.4(PCCA):c.*159T>G 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_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_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
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_172250.3(MMAA):c.*188A>G rs886059091 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_000282.4(PCCA):c.*190C>G rs41281124 0.00137
NM_000532.5(PCCB):c.1299+9C>A rs60968242 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_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_001081.4(CUBN):c.3G>T (p.Met1Ile) rs11254385 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_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_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 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.2929T>C (p.Phe977Leu) rs142292210 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_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_052845.4(MMAB):c.*961G>A rs541447661 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_172250.3(MMAA):c.*342A>G rs886059093 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.1349G>A (p.Gly450Asp) rs146463364 0.00034
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_001081.4(CUBN):c.791G>C (p.Arg264Thr) rs144440300 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_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_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 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_000532.5(PCCB):c.373-1229T>C rs7642585 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_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_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
NM_052845.4(MMAB):c.*2914G>A rs759971406 0.00026
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00026
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
NC_000019.10:g.45529113G>A rs201078416 0.00022
NM_000282.4(PCCA):c.965C>T (p.Ala322Val) rs143527709 0.00022
NM_000532.5(PCCB):c.544-5G>C rs372351800 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_001609.4(ACADSB):c.*3321C>T rs775939335 0.00022
NM_001609.4(ACADSB):c.*3619T>C rs886046802 0.00022
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter) rs142095937 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.*465C>T rs886061555 0.00021
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252 0.00021
NM_000282.4(PCCA):c.*34A>C rs770148620 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.7508C>T (p.Pro2503Leu) rs140983139 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_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.*1091C>G rs557691359 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_001081.4(CUBN):c.6344A>G (p.Asn2115Ser) rs143835350 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_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 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.*116G>A rs886049929 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_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.*1754A>G rs886046791 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_022132.5(MCCC2):c.*260T>A rs886060739 0.00019
NM_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 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.*2503G>A rs886048916 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
NC_000019.10:g.45529183T>A rs201888844 0.00016
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_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.4459C>T (p.Arg1487Ter) rs145661597 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.729C>T (p.Thr243=) rs138111772 0.00014
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.5459A>G (p.Tyr1820Cys) rs139369652 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_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_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.-69G>T rs886059086 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_001081.4(CUBN):c.348+2T>C rs146047781 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.*200A>T rs886061556 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_025136.4(OPA3):c.*5258A>G rs886054512 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.*942A>G rs886059096 0.00011
NM_172250.3(MMAA):c.440-17A>T rs373100355 0.00011
NC_000019.10:g.45529184G>A rs762180740 0.00010
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.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_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.323G>A (p.Ser108Asn) rs543983858 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 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.1369G>A (p.Asp457Asn) rs535695991 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.1101G>A (p.Ala367=) rs145295182 0.00010
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793 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.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_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 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.2894A>G (p.Gln965Arg) rs147955566 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.9053A>C (p.Tyr3018Ser) rs370778353 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.*2085C>T rs766980366 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
NC_000019.10:g.45529193A>G rs535476484 0.00008
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.2197G>A (p.Val733Ile) rs1183369398 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_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.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn) rs777692110 0.00008
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 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.1084A>T (p.Ile362Phe) rs537530231 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.3391A>G (p.Thr1131Ala) rs201138390 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.*1354C>T rs538509005 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.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.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.*218_*219del rs1057515675 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_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.*699T>C rs886060741 0.00006
NM_022132.5(MCCC2):c.*856C>T rs886060744 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_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.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164 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.1286A>G (p.Tyr429Cys) rs201741770 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_000532.5(PCCB):c.707A>G (p.Asn236Ser) rs778955184 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.1558C>T (p.Arg520Trp) rs564637804 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.384-20A>G rs770917710 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
NC_000019.10:g.45529178G>A rs374175877 0.00004
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.770A>C (p.Lys257Thr) rs370652435 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.*223T>G rs1046827974 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.2039C>T (p.Ala680Val) rs376383373 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_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.865C>T (p.Arg289Cys) rs771935604 0.00004
NM_000532.5(PCCB):c.950T>A (p.Val317Glu) rs762758029 0.00004
NM_001001563.5(TIMM50):c.658C>T (p.Arg220Trp) rs766277051 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.3496G>A (p.Gly1166Arg) rs201443885 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.6214C>T (p.Arg2072Cys) rs149102355 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.9555T>G (p.Cys3185Trp) rs746114034 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001081.4(CUBN):c.9878C>T (p.Ser3293Leu) rs566296480 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.*1581T>C rs886057069 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.*59G>A rs886046784 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.*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.125C>T (p.Pro42Leu) rs763226016 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_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 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.*2089T>C rs886054529 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.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.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.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.1094A>G (p.Asn365Ser) rs1196513317 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.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.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.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.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.1351G>A (p.Val451Ile) rs746956601 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.260A>G (p.Lys87Arg) rs754451499 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.6095G>A (p.Cys2032Tyr) rs201720797 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.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.8465C>T (p.Pro2822Leu) rs776663892 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.*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.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.*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.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_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.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.*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.1159C>T (p.Arg387Ter) rs1220930025 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.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_172250.3(MMAA):c.*1273C>T rs1001420347 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.208G>C (p.Val70Leu) rs121964996 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.38C>T (p.Pro13Leu) rs1057518979 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.2T>C (p.Met1Thr) rs372093520 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.10136T>C (p.Val3379Ala) rs1239695630 0.00002
NM_001081.4(CUBN):c.10187A>G (p.Asn3396Ser) rs780850360 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.6005A>G (p.Asn2002Ser) rs368261414 0.00002
NM_001081.4(CUBN):c.6125-5C>T rs767744034 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.*1761_*1762del rs886057067 0.00002
NM_001352514.2(HLCS):c.*334A>G rs886057073 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.*338G>A rs879231133 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_015506.3(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.685A>G (p.Met229Val) rs371960953 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.59G>A (p.Arg20His) rs756192515 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.*3222T>C rs886059112 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
NC_000019.10:g.45529065G>A rs1162879805 0.00001
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.1163+2T>C rs1280110907 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.*1214C>A rs886061551 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.*691T>C rs886061554 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.1208G>A (p.Arg403Gln) rs774457503 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.1677-1G>A rs754369323 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.755dup (p.His252fs) rs751624492 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.2133_2135del (p.Cys712del) rs1316778844 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.437T>C (p.Leu146Pro) rs774457925 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.522G>A (p.Met174Ile) rs780406346 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_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.10277C>G (p.Thr3426Arg) rs143066121 0.00001
NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn) rs768846551 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1190A>G (p.Asn397Ser) rs140397272 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.3371A>G (p.Tyr1124Cys) rs763475348 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.3977A>C (p.Asp1326Ala) rs774933317 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 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.83T>C (p.Leu28Pro) rs1054077052 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.8749G>A (p.Val2917Ile) rs142248018 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_001081.4(CUBN):c.9841A>T (p.Thr3281Ser) rs570241713 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.1703C>T (p.Thr568Met) rs755613972 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.1328T>G (p.Val443Gly) rs778061862 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_001698.3(AUH):c.943-2A>G rs730880312 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.1132T>C (p.Cys378Arg) rs398123680 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.286+5G>T rs878909737 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.1138C>T (p.Arg380Ter) rs1407675367 0.00001
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508 0.00001
NM_013247.5(HTRA2):c.1294C>T (p.Arg432Ter) rs746665790 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.35+10A>C rs747167987 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_014362.4(HIBCH):c.913A>G (p.Thr305Ala) rs558397748 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.1367C>T (p.Ala456Val) rs727504011 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.377C>T (p.Ser126Leu) rs771053425 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.*1779T>C rs886059097 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)
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
NC_000001.10:g.(?_19199339)_(24690861_?)dup
NC_000001.10:g.(?_24122439)_(24134833_?)del
NC_000001.10:g.(?_24122439)_(24144093_?)del
NC_000001.10:g.(?_24125085)_(24151905_?)del
NC_000001.10:g.(?_24127494)_(24130949_?)del
NC_000001.10:g.(?_24128943)_(24129064_?)del
NC_000001.10:g.(?_24128943)_(24131025_?)del
NC_000001.10:g.(?_24132578)_(24134831_?)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.(?_24146980)_(24147103_?)del
NC_000001.10:g.(?_24146990)_(24151915_?)del
NC_000001.10:g.(?_24151826)_(24151905_?)del
NC_000001.10:g.(?_45965995)_(45966095_?)del
NC_000001.10:g.(?_45966005)_(45977106_?)dup
NC_000001.10:g.(?_45973008)_(45977106_?)del
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.(?_150426488)_(150426702_?)del
NC_000002.11:g.(?_150426488)_(150443611_?)del
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.(?_135969205)_(135980927_?)del
NC_000003.11:g.(?_135969218)_(135969420_?)dup
NC_000003.11:g.(?_135969218)_(136048868_?)dup
NC_000003.11:g.(?_135974678)_(135979397_?)del
NC_000003.11:g.(?_135974688)_(136003251_?)del
NC_000003.11:g.(?_135979301)_(135980927_?)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.(?_136002669)_(136048878_?)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.(?_136019910)_(136021257_?)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.(?_182743523)_(182743612_?)del
NC_000003.11:g.(?_182751759)_(182770048_?)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.(?_182763181)_(182810353_?)dup
NC_000003.11:g.(?_182769927)_(182817228_?)del
NC_000003.11:g.(?_182788836)_(182792878_?)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.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.(?_70883253)_(70883401_?)del
NC_000005.9:g.(?_70888733)_(70895607_?)del
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.(?_70895466)_(70900315_?)del
NC_000005.9:g.(?_70895466)_(70900315_?)dup
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.(?_70927928)_(70931093_?)del
NC_000005.9:g.(?_70930773)_(70930871_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000005.9:g.(?_70939626)_(70948601_?)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.69697707_69697708insTATCAGATTATCAGAAGTTATATTAGTCTGAAAGATAAAAATACAGTTAAAATATAAAAACCGCATTAATAAATACATTTGGATTTAAAAAGT
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_000010.10:g.(?_122842033)_(124813281_?)del
NC_000010.10:g.(?_124813200)_(124818000_?)del
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_000011.10:g.108148169TTAA[2] rs112801981
NC_000011.10:g.134253534G>A rs112372624
NC_000011.10:g.134257112C>T rs377629003
NC_000011.9:g.(?_107992324)_(107992415_?)del
NC_000011.9:g.(?_107992334)_(108010962_?)del
NC_000011.9:g.(?_107992334)_(108464263_?)dup
NC_000011.9:g.(?_108002614)_(108005989_?)del
NC_000011.9:g.(?_108002614)_(108009788_?)del
NC_000011.9:g.(?_108004527)_(108005063_?)del
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.(?_108009605)_(108017106_?)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.(?_108017977)_(108018117_?)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.(?_110002904)_(110003001_?)del
NC_000012.11:g.(?_110009434)_(110009535_?)dup
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.(100925601_100953713)_(101077986_101101505)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.(?_100807223)_(100962172_?)dup
NC_000013.10:g.(?_100861566)_(100861737_?)del
NC_000013.10:g.(?_100861566)_(100962182_?)del
NC_000013.10:g.(?_100861566)_(101020848_?)del
NC_000013.10:g.(?_100861576)_(100955262_?)del
NC_000013.10:g.(?_100888076)_(100888152_?)del
NC_000013.10:g.(?_100888076)_(101020848_?)del
NC_000013.10:g.(?_100888086)_(100992523_?)del
NC_000013.10:g.(?_100909829)_(100909947_?)del
NC_000013.10:g.(?_100909829)_(101020848_?)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_?)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.(?_100953694)_(101101579_?)del
NC_000013.10:g.(?_100953704)_(100962172_?)dup
NC_000013.10:g.(?_100962067)_(100992533_?)del
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.(?_101020706)_(101020848_?)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.(?_101101486)_(101101579_?)del
NC_000013.10:g.(?_101101486)_(101101579_?)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.(?_100111821)_(100112081_?)del
NC_000013.11:g.(?_100111831)_(100112071_?)del
NC_000013.11:g.(?_100154969)_(100273356_?)del
NC_000013.11:g.(?_100209322)_(100235888_?)del
NC_000013.11:g.(?_100268679)_(100268793_?)del
NC_000013.11:g.(?_100301450)_(100425741_?)del
NC_000013.11:g.(?_100301460)_(100425731_?)del
NC_000013.11:g.(?_100330541)_(100368594_?)del
NC_000013.11:g.(?_100425613)_(100425751_?)del
NC_000013.11:g.(?_100449242)_(100491683_?)del
NC_000013.11:g.(?_100527655)_(100530186_?)del
NC_000013.11:g.(?_100527665)_(100530447_?)del
NC_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.(40707682_40708276)_(40713508_?)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.(?_40698020)_(40700209_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NC_000015.9:g.(?_40702817)_(40708571_?)del
NC_000015.9:g.(?_40710309)_(40710462_?)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_?)del
NC_000016.9:g.(?_89167090)_(89187341_?)dup
NC_000016.9:g.(?_89167090)_(89212477_?)del
NC_000016.9:g.(?_89167090)_(89220615_?)del
NC_000016.9:g.(?_89167109)_(89178321_?)del
NC_000016.9:g.(?_89167111)_(89178323_?)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.(?_89180727)_(89199690_?)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)_(89212477_?)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_000019.10:g.45529151C>A rs1555730157
NC_000019.10:g.45529163G>A rs1555730159
NC_000019.10:g.45529185C>T rs566450630
NC_000019.10:g.45529367C>A rs763348163
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
NC_000019.9:g.(?_46056772)_(46057189_?)del
NC_000019.9:g.(?_46056772)_(46088022_?)del
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_37707582)_(38139606_?)del
NC_000021.8:g.(?_38126547)_(38139606_?)del
NC_000021.8:g.(?_38128823)_(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.(?_38302531)_(38302753_?)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.(?_152954030)_(154005142_?)del
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NC_000023.10:g.(?_153592370)_(153775961_?)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)_(153642547_?)dup
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(MT-TL1):m.3243A>G rs199474657
NG_008017.1:g.?_(11043_41520)del
NG_008939.1(PCCB):g.896_8947del
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: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.1006-19G>A
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.1074_1094delinsCC (p.Val359fs)
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.1086A>G (p.Ala362=)
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.1163G>C (p.Gly388Ala)
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.1192_1193del (p.Leu398fs)
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
NM_000019.4(ACAT1):c.11T>C (p.Leu4Pro)
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.203G>T (p.Gly68Val) rs794727475
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+1G>A
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.291_315dup (p.Gln106delinsArgTer)
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.33delinsGCACTTCT (p.Ala12fs)
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.363_364insT (p.Ile122fs)
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.410C>T (p.Ser137Phe)
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.425G>T (p.Cys142Phe) rs1565289624
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.495_496del (p.Gly166fs)
NM_000019.4(ACAT1):c.49C>G (p.Pro17Ala)
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.51_52dup (p.Leu18fs)
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.579+8T>C
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.580-12A>C
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.702A>G (p.Glu234=)
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.731-17A>G
NM_000019.4(ACAT1):c.731-1G>A
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.858G>C (p.Leu286=)
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.925C>T (p.Leu309=)
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.940G>C (p.Ala314Pro)
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.941-8T>C
NM_000019.4(ACAT1):c.941-9T>A rs980651269
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) rs1591372596
NM_000019.4(ACAT1):c.952_983dup (p.Ala328_Pro329insLeuLeuTer)
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.135C>T (p.His45=)
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
NM_000116.5(TAFAZZIN):c.13G>A (p.Val5Met)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) rs1557191074
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
NM_000116.5(TAFAZZIN):c.150G>A (p.Leu50=)
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.154G>T (p.Glu52Ter) rs794729166
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.177G>A (p.Pro59=)
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.223G>T (p.Asp75Tyr)
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+14T>G
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.239-16C>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.243C>G (p.Ile81Met)
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.285-19T>C
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.293C>T (p.Ala98Val)
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.350del (p.Lys117fs)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
NM_000116.5(TAFAZZIN):c.363G>A (p.Val121=)
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.370+8G>T
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.387A>G (p.Gln129=)
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.408T>G (p.Gly136=)
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.456G>A (p.Glu152=)
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.461-9T>G
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.532T>A (p.Phe178Ile)
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+16T>C
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
NM_000116.5(TAFAZZIN):c.541+3C>G rs1557193865
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.542-10C>T
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.542-9T>C
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.543G>C (p.Gly181=)
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>A (p.Arg191His) rs876661034
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+3A>G
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.584-10C>T
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.584-8C>T
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.585A>T (p.Gly195=)
NM_000116.5(TAFAZZIN):c.586A>G (p.Ile196Val)
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.597G>C (p.Leu199=)
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+5G>T
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.647-16G>C
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000116.5(TAFAZZIN):c.647-9G>C
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.696A>G (p.Gly232=)
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.699+6del
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.703del (p.Ile235fs)
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.708T>C (p.Thr236=)
NM_000116.5(TAFAZZIN):c.709G>A (p.Val237Met)
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
NM_000116.5(TAFAZZIN):c.717C>T (p.Ile239=)
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.718G>T (p.Gly240Trp)
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+18T>C
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.778-17C>T
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.787C>T (p.Arg263Trp)
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val) rs1557194499
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
NM_000116.5(TAFAZZIN):c.804del (p.Phe269fs)
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.81G>T (p.Leu27Phe)
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>A (p.Gln283=)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.84G>A (p.Val28=)
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.861C>T (p.His287=)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000116.5(TAFAZZIN):c.872G>A (p.Gly291Glu)
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(TAFAZZIN):c.93C>T (p.Tyr31=)
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)
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.124G>C (p.Asp42His)
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.189T>C (p.Leu63=)
NM_000191.3(HMGCL):c.195A>G (p.Glu65=) rs2148424193
NM_000191.3(HMGCL):c.201A>G (p.Gly67=)
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.253-5C>T
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+13C>G
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.425C>T (p.Ser142Phe)
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
NM_000191.3(HMGCL):c.42C>T (p.Gly14=) rs1638799252
NM_000191.3(HMGCL):c.436A>G (p.Ser146Gly)
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.471G>T (p.Ala157=)
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.498-15C>T
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.534del (p.Lys179fs)
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+20_561+23del
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.60_60+18del
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.610dup (p.Asp204fs)
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.657T>C (p.Ser219=)
NM_000191.3(HMGCL):c.658del (p.Ala220fs)
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.724C>T (p.Leu242=)
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.751-12T>A
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.810G>A (p.Gln270=)
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.1084-1_1084delinsTT
NM_000255.4(MMUT):c.1091A>G (p.Tyr364Cys)
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.1676+3G>T
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.183G>T (p.Trp61Cys)
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.2020C>T (p.Leu674Phe) rs1164271240
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.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.424A>G (p.Thr142Ala)
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.567T>G (p.Asn189Lys) rs1561959114
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.753+3A>G
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>A (p.Ser262Asn) rs1767683356
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.811del (p.Ala271fs) rs764189353
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.915G>T (p.Leu305Phe)
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_000277.3(PAH):c.223G>C (p.Asp75His) rs767453024
NM_000282.4(PCCA):c.*158dup rs140492017
NM_000282.4(PCCA):c.*190C>T rs41281124
NM_000282.4(PCCA):c.*91A>G rs2088307404
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+10A>G
NM_000282.4(PCCA):c.105+11A>G
NM_000282.4(PCCA):c.105+18C>T
NM_000282.4(PCCA):c.105+1G>A rs879253804
NM_000282.4(PCCA):c.105+1G>C
NM_000282.4(PCCA):c.105+1G>T
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.1055_1056del (p.Thr352fs)
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.1062C>G (p.Leu354=)
NM_000282.4(PCCA):c.1062C>T (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+7A>T
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.1066-23A>C
NM_000282.4(PCCA):c.1066-4G>T
NM_000282.4(PCCA):c.1066-5T>C
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.108T>C (p.His36=)
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.1104C>T (p.Asp368=)
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.111_130del (p.Tyr39fs)
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.1132_1140del (p.Lys378_Tyr380del)
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.1152C>T (p.His384=)
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.1168del (p.Arg390fs)
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
NM_000282.4(PCCA):c.1170C>T (p.Arg390=)
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.1198del (p.Val400fs)
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.1210-14del
NM_000282.4(PCCA):c.1210-15C>T
NM_000282.4(PCCA):c.1210-16T>C
NM_000282.4(PCCA):c.1210-19C>G
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.1243G>A (p.Gly415Arg)
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.1275T>C (p.His425=)
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.1306C>T (p.Gln436Ter)
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.1354-18T>C
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.1367G>T (p.Gly456Val)
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+19A>G
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.1437A>C (p.Thr479=)
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.1479C>G (p.Arg493=)
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.1499G>A (p.Ser500Asn)
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.1523del (p.Tyr508fs)
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=) rs2152734002
NM_000282.4(PCCA):c.1524T>G (p.Tyr508Ter)
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+5G>A
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.1546A>G (p.Met516Val)
NM_000282.4(PCCA):c.1546del (p.Met516fs)
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+10A>G
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+19A>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.1684_1685del (p.Val563fs)
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.1704A>G (p.Lys568=)
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.1721C>G (p.Ala574Gly)
NM_000282.4(PCCA):c.1722A>T (p.Ala574=)
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.1746+5G>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.1747-17A>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.1779C>T (p.Thr593=)
NM_000282.4(PCCA):c.1782C>T (p.Ser594=)
NM_000282.4(PCCA):c.1785G>T (p.Thr595=)
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.1815C>T (p.Val605=)
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.1863A>T (p.Ala621=)
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+10A>G
NM_000282.4(PCCA):c.1899+12A>C
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.1916del (p.Ile638_Leu639insTer)
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.1929C>A (p.Ala643=)
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
NM_000282.4(PCCA):c.1937del (p.Glu645_Leu646insTer)
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.1983T>C (p.Val661=)
NM_000282.4(PCCA):c.1984C>T (p.Leu662=)
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>A (p.Ser664=)
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.199del (p.Val68fs)
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.2017G>T (p.Val673Phe)
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.2030_2037dup (p.Ala680fs)
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+20C>T
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+20T>G
NM_000282.4(PCCA):c.2118+3G>C
NM_000282.4(PCCA):c.2118+7C>T
NM_000282.4(PCCA):c.2118+8C>A
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.2137C>T (p.Gln713Ter)
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg) rs141286340
NM_000282.4(PCCA):c.2158_2159insT (p.Glu720fs)
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.27_36del (p.Pro10fs)
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>A (p.Asp97Asn)
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
NM_000282.4(PCCA):c.291T>C (p.Asp97=)
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.301-2A>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.312_313del (p.Lys104fs)
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.330_333del (p.Cys111fs)
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.345T>C (p.Ala115=)
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.414+5G>A
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+437inv
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.496C>A (p.Pro166Thr)
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.519C>T (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.542A>G (p.Lys181Arg)
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>G
NM_000282.4(PCCA):c.601-12C>T
NM_000282.4(PCCA):c.601-18C>T
NM_000282.4(PCCA):c.601-3C>G
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.615T>C (p.Ala205=)
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.638-15C>G
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.638-9T>C
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.67C>T (p.Gln23Ter)
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.708A>G (p.Glu236=)
NM_000282.4(PCCA):c.716+16A>G
NM_000282.4(PCCA):c.716+1G>C
NM_000282.4(PCCA):c.716+1dup
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.720T>C (p.Asp240=)
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.753T>A (p.Ser251=)
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
NM_000282.4(PCCA):c.756T>A (p.Ser252Arg)
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.794A>T (p.Asp265Val)
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.812A>T (p.Glu271Val)
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+1G>T
NM_000282.4(PCCA):c.819+24del
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.820-20A>C
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.854T>G (p.Leu285Arg)
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.915-11T>C
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.915-2A>G
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.923del (p.Leu308fs)
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.931G>A (p.Glu311Lys)
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.1003A>G (p.Asn335Asp)
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.1050G>T (p.Arg350Ser)
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.1091-10C>G
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.1091-2A>G
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.1163T>A (p.Leu388His)
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.1174G>T (p.Val392Phe)
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+14dup
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.1199-18A>G
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_1218insTA (p.Gly407fs) rs750343369
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
NM_000532.5(PCCB):c.1218_1228delinsTAGAGCACA (p.Gly407fs)
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.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.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.1288A>C (p.Ile430Leu)
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+1G>T
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.12A>C (p.Ala4=)
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.1314C>T (p.Ala438=)
NM_000532.5(PCCB):c.1325T>C (p.Met442Thr)
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.1349A>G (p.Asp450Gly)
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) rs1935374974
NM_000532.5(PCCB):c.1351dup (p.Thr451fs)
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.1379T>C (p.Ile460Thr)
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.1399-13C>A
NM_000532.5(PCCB):c.1399-1G>C
NM_000532.5(PCCB):c.1399-20A>G
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.141G>C (p.Leu47=)
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.1487C>T (p.Ala496Val)
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+13G>T
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>A
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.1516dup (p.Ile506fs)
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.1523del (p.Pro508fs)
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.1530del (p.Thr511fs)
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
NM_000532.5(PCCB):c.1531dup (p.Thr511fs)
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.168_169insCCCCTTGTGACGCTTGT (p.Ala57fs)
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.172C>T (p.Gln58Ter)
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.177C>T (p.His59=)
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+10C>G
NM_000532.5(PCCB):c.303+13A>C
NM_000532.5(PCCB):c.303+14T>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+20T>C
NM_000532.5(PCCB):c.303+7G>A rs747794871
NM_000532.5(PCCB):c.303+7G>T
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.304-15G>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.335_338dup (p.Ile114fs)
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.349A>G (p.Arg117Gly)
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.363C>A (p.Val121=)
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.368_369delinsTAAC (p.Ser123fs)
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.373-1236G>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.373-1G>T
NM_000532.5(PCCB):c.373-5T>C
NM_000532.5(PCCB):c.373-8C>G
NM_000532.5(PCCB):c.378T>C (p.Phe126=)
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.399G>A (p.Leu133=)
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
NM_000532.5(PCCB):c.408A>T (p.Ala136=)
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+12A>G
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+19A>G
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.430-7G>T
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>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.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.585G>C (p.Leu195=)
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
NM_000532.5(PCCB):c.588C>G (p.Ile196Met)
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.609_610delinsC (p.Ala204fs)
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.637_641del (p.Phe213fs)
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.653A>G (p.Lys218Arg)
NM_000532.5(PCCB):c.654+12G>C
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+19T>C
NM_000532.5(PCCB):c.654+1G>C rs1553777590
NM_000532.5(PCCB):c.654+2T>G
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.73del (p.Val25fs)
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.764-14C>T
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.764-1G>C
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.773A>G (p.His258Arg)
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.797A>T (p.Asp266Val)
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.813C>A (p.Leu271=)
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.831C>T (p.Tyr277=)
NM_000532.5(PCCB):c.834G>A (p.Leu278=)
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+20A>G
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.885-17del
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.925G>T (p.Glu309Ter)
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.967-2_971del
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>G
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_000532.5(PCCB):c.9G>C (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.337C>T (p.Arg113Cys)
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_001001563.5(TIMM50):c.884G>A (p.Arg295Gln)
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
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.304T>C (p.Trp102Arg)
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.445del (p.Leu149fs) rs780299639
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.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.10032+10A>G
NM_001081.4(CUBN):c.10049G>T (p.Arg3350Ile)
NM_001081.4(CUBN):c.10061G>C (p.Cys3354Ser)
NM_001081.4(CUBN):c.10066A>G (p.Arg3356Gly)
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10084C>T (p.Pro3362Ser)
NM_001081.4(CUBN):c.10097C>G (p.Ser3366Cys)
NM_001081.4(CUBN):c.10115T>C (p.Met3372Thr)
NM_001081.4(CUBN):c.10120A>G (p.Ile3374Val)
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.10172A>G (p.Gln3391Arg)
NM_001081.4(CUBN):c.10196A>T (p.Tyr3399Phe)
NM_001081.4(CUBN):c.10222A>C (p.Ser3408Arg)
NM_001081.4(CUBN):c.10246_10258del (p.Asp3416fs)
NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)
NM_001081.4(CUBN):c.10283C>T (p.Pro3428Leu)
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10313A>G (p.His3438Arg)
NM_001081.4(CUBN):c.10339G>T (p.Glu3447Ter)
NM_001081.4(CUBN):c.10363-6C>G
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10397T>C (p.Leu3466Pro)
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10463G>A (p.Arg3488Gln)
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.10492C>T (p.Arg3498Cys)
NM_001081.4(CUBN):c.10493G>A (p.Arg3498His)
NM_001081.4(CUBN):c.10495G>A (p.Gly3499Arg)
NM_001081.4(CUBN):c.10522C>T (p.Pro3508Ser)
NM_001081.4(CUBN):c.10544T>C (p.Leu3515Pro)
NM_001081.4(CUBN):c.10582C>G (p.Pro3528Ala)
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.10673T>C (p.Ile3558Thr)
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.1073G>A (p.Gly358Glu)
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.10765-2A>G
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10777G>T (p.Ala3593Ser)
NM_001081.4(CUBN):c.10798A>T (p.Asn3600Tyr)
NM_001081.4(CUBN):c.10806C>G (p.Val3602=)
NM_001081.4(CUBN):c.10832C>T (p.Ala3611Val)
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.10867dup (p.Ser3623fs)
NM_001081.4(CUBN):c.10868G>C (p.Ser3623Thr)
NM_001081.4(CUBN):c.1097G>C (p.Cys366Ser) rs1564518870
NM_001081.4(CUBN):c.1121C>T (p.Pro374Leu)
NM_001081.4(CUBN):c.1139C>T (p.Pro380Leu)
NM_001081.4(CUBN):c.1171G>A (p.Gly391Arg)
NM_001081.4(CUBN):c.1173A>T (p.Gly391=)
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1252del (p.Cys418fs)
NM_001081.4(CUBN):c.128G>A (p.Arg43Gln)
NM_001081.4(CUBN):c.1316A>G (p.Asn439Ser)
NM_001081.4(CUBN):c.1351G>C (p.Val451Leu)
NM_001081.4(CUBN):c.1363A>C (p.Ser455Arg)
NM_001081.4(CUBN):c.1379G>A (p.Arg460His)
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1405G>T (p.Val469Phe)
NM_001081.4(CUBN):c.1415_1416delinsGAT (p.Gln472fs)
NM_001081.4(CUBN):c.1421del (p.Cys474fs)
NM_001081.4(CUBN):c.1424G>A (p.Gly475Glu)
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
NM_001081.4(CUBN):c.1452C>G (p.Ser484Arg)
NM_001081.4(CUBN):c.1453T>G (p.Phe485Val)
NM_001081.4(CUBN):c.1492G>A (p.Val498Ile)
NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)
NM_001081.4(CUBN):c.1549A>G (p.Thr517Ala)
NM_001081.4(CUBN):c.154G>T (p.Val52Leu)
NM_001081.4(CUBN):c.1559G>A (p.Arg520Gln)
NM_001081.4(CUBN):c.1567T>C (p.Ser523Pro)
NM_001081.4(CUBN):c.1570A>G (p.Met524Val)
NM_001081.4(CUBN):c.1576A>G (p.Asn526Asp)
NM_001081.4(CUBN):c.1685A>G (p.Asn562Ser)
NM_001081.4(CUBN):c.1712A>G (p.Glu571Gly)
NM_001081.4(CUBN):c.1735T>A (p.Phe579Ile)
NM_001081.4(CUBN):c.1747T>C (p.Trp583Arg)
NM_001081.4(CUBN):c.1777A>T (p.Ile593Phe)
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
NM_001081.4(CUBN):c.17T>C (p.Leu6Ser)
NM_001081.4(CUBN):c.1819C>A (p.Pro607Thr)
NM_001081.4(CUBN):c.1831C>T (p.Pro611Ser)
NM_001081.4(CUBN):c.1837G>A (p.Gly613Arg)
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.1934A>G (p.Lys645Arg)
NM_001081.4(CUBN):c.1952G>A (p.Arg651Gln)
NM_001081.4(CUBN):c.1972G>A (p.Asp658Asn)
NM_001081.4(CUBN):c.1973A>G (p.Asp658Gly)
NM_001081.4(CUBN):c.1996A>C (p.Thr666Pro)
NM_001081.4(CUBN):c.2015C>T (p.Pro672Leu)
NM_001081.4(CUBN):c.2017C>T (p.Leu673Phe)
NM_001081.4(CUBN):c.2053dup (p.His685fs)
NM_001081.4(CUBN):c.2096A>G (p.Tyr699Cys)
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2135A>G (p.Tyr712Cys)
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2153A>C (p.Glu718Ala)
NM_001081.4(CUBN):c.2164C>T (p.Pro722Ser)
NM_001081.4(CUBN):c.2192C>T (p.Thr731Ile)
NM_001081.4(CUBN):c.2256C>A (p.His752Gln)
NM_001081.4(CUBN):c.2258T>A (p.Val753Glu)
NM_001081.4(CUBN):c.2294A>G (p.Tyr765Cys)
NM_001081.4(CUBN):c.22T>C (p.Phe8Leu)
NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)
NM_001081.4(CUBN):c.2302G>T (p.Val768Phe)
NM_001081.4(CUBN):c.2309A>T (p.Asp770Val)
NM_001081.4(CUBN):c.236G>A (p.Ser79Asn)
NM_001081.4(CUBN):c.2375A>G (p.Asn792Ser)
NM_001081.4(CUBN):c.240G>C (p.Glu80Asp)
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)
NM_001081.4(CUBN):c.2455G>A (p.Asp819Asn)
NM_001081.4(CUBN):c.2461T>G (p.Leu821Val)
NM_001081.4(CUBN):c.2496T>G (p.Phe832Leu)
NM_001081.4(CUBN):c.2496del (p.Pro833fs)
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.4(CUBN):c.2528G>T (p.Arg843Met)
NM_001081.4(CUBN):c.2575dup (p.Thr859fs)
NM_001081.4(CUBN):c.2578del (p.Val860fs)
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2628T>G (p.Ile876Met)
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.2674G>A (p.Gly892Ser)
NM_001081.4(CUBN):c.2678C>T (p.Thr893Ile)
NM_001081.4(CUBN):c.2767G>A (p.Ala923Thr)
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2792-5_2795del
NM_001081.4(CUBN):c.2827A>T (p.Ile943Phe)
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
NM_001081.4(CUBN):c.2876C>G (p.Thr959Ser)
NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)
NM_001081.4(CUBN):c.2954G>A (p.Cys985Tyr)
NM_001081.4(CUBN):c.3044G>T (p.Ser1015Ile)
NM_001081.4(CUBN):c.3103T>G (p.Phe1035Val)
NM_001081.4(CUBN):c.3124A>T (p.Ile1042Phe)
NM_001081.4(CUBN):c.3127A>G (p.Ser1043Gly)
NM_001081.4(CUBN):c.3173C>T (p.Thr1058Ile)
NM_001081.4(CUBN):c.3197A>G (p.Asn1066Ser)
NM_001081.4(CUBN):c.3220T>A (p.Cys1074Ser)
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln) rs184585798
NM_001081.4(CUBN):c.3295A>G (p.Ile1099Val)
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3330-9T>G
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.3424A>C (p.Lys1142Gln)
NM_001081.4(CUBN):c.347A>G (p.Lys116Arg)
NM_001081.4(CUBN):c.348+4A>G
NM_001081.4(CUBN):c.348G>A (p.Lys116=)
NM_001081.4(CUBN):c.349-11C>T
NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3551C>T (p.Pro1184Leu)
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.3616G>A (p.Glu1206Lys)
NM_001081.4(CUBN):c.3656C>G (p.Thr1219Ser)
NM_001081.4(CUBN):c.3672+2T>C
NM_001081.4(CUBN):c.3672+5G>C
NM_001081.4(CUBN):c.3674T>C (p.Val1225Ala)
NM_001081.4(CUBN):c.3685C>G (p.Pro1229Ala)
NM_001081.4(CUBN):c.3743T>C (p.Ile1248Thr)
NM_001081.4(CUBN):c.3745C>A (p.Arg1249Ser)
NM_001081.4(CUBN):c.3752G>T (p.Ser1251Ile)
NM_001081.4(CUBN):c.3788A>G (p.Glu1263Gly)
NM_001081.4(CUBN):c.37C>T (p.Leu13Phe)
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3844G>A (p.Val1282Ile)
NM_001081.4(CUBN):c.3899A>T (p.Tyr1300Phe)
NM_001081.4(CUBN):c.3907A>C (p.Asn1303His)
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.3960C>T (p.Tyr1320=)
NM_001081.4(CUBN):c.4005A>G (p.Thr1335=)
NM_001081.4(CUBN):c.4015G>C (p.Glu1339Gln)
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)
NM_001081.4(CUBN):c.4045C>A (p.Arg1349Ser)
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.4072C>A (p.Pro1358Thr)
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4130G>A (p.Arg1377His)
NM_001081.4(CUBN):c.4133G>A (p.Arg1378His)
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4171T>C (p.Cys1391Arg)
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4214C>T (p.Pro1405Leu)
NM_001081.4(CUBN):c.4229G>A (p.Arg1410Lys)
NM_001081.4(CUBN):c.424C>A (p.Gln142Lys)
NM_001081.4(CUBN):c.4295C>T (p.Thr1432Ile)
NM_001081.4(CUBN):c.4322A>G (p.His1441Arg)
NM_001081.4(CUBN):c.4350+13A>G
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4351-6T>C
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)
NM_001081.4(CUBN):c.4361G>A (p.Gly1454Asp)
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
NM_001081.4(CUBN):c.4376C>T (p.Ser1459Phe)
NM_001081.4(CUBN):c.4378C>T (p.Pro1460Ser)
NM_001081.4(CUBN):c.4397G>A (p.Cys1466Tyr)
NM_001081.4(CUBN):c.4460G>A (p.Arg1487Gln)
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4562T>C (p.Ile1521Thr)
NM_001081.4(CUBN):c.4573A>G (p.Asn1525Asp)
NM_001081.4(CUBN):c.4603G>A (p.Asp1535Asn)
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.4691_4695+3del
NM_001081.4(CUBN):c.4695+1G>T
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.4743T>G (p.Cys1581Trp)
NM_001081.4(CUBN):c.476C>T (p.Pro159Leu)
NM_001081.4(CUBN):c.4770C>G (p.Ile1590Met)
NM_001081.4(CUBN):c.4771G>A (p.Val1591Ile)
NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)
NM_001081.4(CUBN):c.4779A>G (p.Ser1593=)
NM_001081.4(CUBN):c.4819A>G (p.Arg1607Gly)
NM_001081.4(CUBN):c.4823A>G (p.Gln1608Arg)
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
NM_001081.4(CUBN):c.4855+1G>A
NM_001081.4(CUBN):c.4873C>T (p.Leu1625Phe)
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.489+19G>A
NM_001081.4(CUBN):c.490-8G>C
NM_001081.4(CUBN):c.4912C>T (p.Pro1638Ser)
NM_001081.4(CUBN):c.4931A>G (p.Asn1644Ser)
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.4963C>A (p.Pro1655Thr)
NM_001081.4(CUBN):c.4969+1G>A
NM_001081.4(CUBN):c.496C>T (p.Leu166Phe)
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.4987T>C (p.Ser1663Pro)
NM_001081.4(CUBN):c.5008G>C (p.Glu1670Gln)
NM_001081.4(CUBN):c.5011A>G (p.Arg1671Gly)
NM_001081.4(CUBN):c.5032G>A (p.Asp1678Asn)
NM_001081.4(CUBN):c.5068G>A (p.Ala1690Thr)
NM_001081.4(CUBN):c.5074del (p.Leu1692fs)
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
NM_001081.4(CUBN):c.5132C>T (p.Ala1711Val)
NM_001081.4(CUBN):c.5143A>G (p.Arg1715Gly)
NM_001081.4(CUBN):c.5161A>G (p.Ser1721Gly)
NM_001081.4(CUBN):c.5169dup (p.Ala1724fs)
NM_001081.4(CUBN):c.5208G>A (p.Ser1736=)
NM_001081.4(CUBN):c.5209+1G>A
NM_001081.4(CUBN):c.5209+2T>C
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>C (p.Val1762Ala)
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.5302_5304del (p.Ile1768del) rs775161946
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.5312C>T (p.Ser1771Phe)
NM_001081.4(CUBN):c.5324G>A (p.Arg1775Gln)
NM_001081.4(CUBN):c.5342+20G>A
NM_001081.4(CUBN):c.5342+8delinsAG
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5395C>G (p.Arg1799Gly)
NM_001081.4(CUBN):c.5395C>T (p.Arg1799Cys)
NM_001081.4(CUBN):c.5414dup (p.His1806fs)
NM_001081.4(CUBN):c.5468T>C (p.Ile1823Thr)
NM_001081.4(CUBN):c.5539T>C (p.Phe1847Leu)
NM_001081.4(CUBN):c.5549-1G>A
NM_001081.4(CUBN):c.5566A>T (p.Ile1856Phe)
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.5590G>A (p.Ala1864Thr)
NM_001081.4(CUBN):c.5594C>T (p.Ser1865Phe)
NM_001081.4(CUBN):c.5597C>G (p.Pro1866Arg)
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5617C>T (p.Pro1873Ser)
NM_001081.4(CUBN):c.5621A>G (p.His1874Arg)
NM_001081.4(CUBN):c.564_566delinsGAA (p.Thr189Lys)
NM_001081.4(CUBN):c.5665G>A (p.Val1889Ile)
NM_001081.4(CUBN):c.5698G>A (p.Glu1900Lys)
NM_001081.4(CUBN):c.5717A>G (p.Tyr1906Cys)
NM_001081.4(CUBN):c.5733+3G>A
NM_001081.4(CUBN):c.5762G>A (p.Arg1921His)
NM_001081.4(CUBN):c.5810C>A (p.Thr1937Asn)
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5846C>T (p.Ser1949Phe)
NM_001081.4(CUBN):c.5858G>C (p.Gly1953Ala)
NM_001081.4(CUBN):c.5860A>G (p.Lys1954Glu)
NM_001081.4(CUBN):c.5875G>A (p.Glu1959Lys)
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)
NM_001081.4(CUBN):c.5879G>T (p.Trp1960Leu)
NM_001081.4(CUBN):c.5903G>A (p.Gly1968Asp)
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5911C>G (p.Pro1971Ala)
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)
NM_001081.4(CUBN):c.5926+13A>T
NM_001081.4(CUBN):c.5927-1G>A
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
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.6011T>G (p.Val2004Gly)
NM_001081.4(CUBN):c.6016T>G (p.Cys2006Gly)
NM_001081.4(CUBN):c.6049G>A (p.Val2017Met)
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)
NM_001081.4(CUBN):c.6198A>T (p.Gly2066=)
NM_001081.4(CUBN):c.6211A>T (p.Ile2071Phe)
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.626A>G (p.Gln209Arg)
NM_001081.4(CUBN):c.6271A>T (p.Ser2091Cys)
NM_001081.4(CUBN):c.6272-20C>G
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.6297_6298insT (p.Arg2100Ter)
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
NM_001081.4(CUBN):c.6331A>G (p.Thr2111Ala)
NM_001081.4(CUBN):c.6340T>C (p.Ser2114Pro)
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.6367C>G (p.Leu2123Val)
NM_001081.4(CUBN):c.6444C>G (p.Asn2148Lys)
NM_001081.4(CUBN):c.6475C>T (p.Pro2159Ser)
NM_001081.4(CUBN):c.6493C>T (p.Pro2165Ser)
NM_001081.4(CUBN):c.6533G>T (p.Ser2178Ile)
NM_001081.4(CUBN):c.6538G>A (p.Ala2180Thr) rs769495257
NM_001081.4(CUBN):c.6640A>G (p.Ser2214Gly)
NM_001081.4(CUBN):c.6647C>A (p.Ala2216Asp)
NM_001081.4(CUBN):c.6676G>A (p.Ala2226Thr)
NM_001081.4(CUBN):c.6707A>G (p.Asn2236Ser)
NM_001081.4(CUBN):c.670C>T (p.Arg224Cys)
NM_001081.4(CUBN):c.6712C>A (p.Pro2238Thr)
NM_001081.4(CUBN):c.6755C>T (p.Ala2252Val)
NM_001081.4(CUBN):c.6772C>T (p.Arg2258Cys)
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)
NM_001081.4(CUBN):c.6796C>G (p.Arg2266Gly)
NM_001081.4(CUBN):c.6826A>G (p.Thr2276Ala)
NM_001081.4(CUBN):c.6830C>A (p.Ser2277Tyr)
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6839T>A (p.Leu2280His)
NM_001081.4(CUBN):c.6854G>C (p.Gly2285Ala)
NM_001081.4(CUBN):c.6863C>T (p.Ser2288Leu)
NM_001081.4(CUBN):c.6867_6868delinsGA (p.Asp2289_Ala2290delinsGluThr)
NM_001081.4(CUBN):c.6871C>T (p.Pro2291Ser)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
NM_001081.4(CUBN):c.6910A>C (p.Ser2304Arg)
NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)
NM_001081.4(CUBN):c.6926_6928delinsAA (p.Gly2309fs)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)
NM_001081.4(CUBN):c.6961A>G (p.Ser2321Gly)
NM_001081.4(CUBN):c.6992A>G (p.Tyr2331Cys)
NM_001081.4(CUBN):c.7001-1del
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.702G>T (p.Met234Ile)
NM_001081.4(CUBN):c.7049T>C (p.Ile2350Thr)
NM_001081.4(CUBN):c.704G>A (p.Arg235Gln)
NM_001081.4(CUBN):c.7060A>G (p.Thr2354Ala)
NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)
NM_001081.4(CUBN):c.7119C>A (p.His2373Gln)
NM_001081.4(CUBN):c.7143del (p.Phe2382fs)
NM_001081.4(CUBN):c.7145_7174del (p.Phe2382_Lys2392delinsTer)
NM_001081.4(CUBN):c.7169G>A (p.Cys2390Tyr)
NM_001081.4(CUBN):c.7196A>T (p.Asp2399Val)
NM_001081.4(CUBN):c.722C>T (p.Pro241Leu)
NM_001081.4(CUBN):c.725A>G (p.Lys242Arg)
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.7364A>C (p.Asp2455Ala)
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7401del (p.Tyr2468fs)
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7426C>G (p.Arg2476Gly)
NM_001081.4(CUBN):c.7429A>G (p.Ile2477Val)
NM_001081.4(CUBN):c.7435G>C (p.Glu2479Gln)
NM_001081.4(CUBN):c.7451C>A (p.Ala2484Asp)
NM_001081.4(CUBN):c.7454C>T (p.Pro2485Leu)
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
NM_001081.4(CUBN):c.7504_7509dup (p.Pro2503_Ser2504insHisPro)
NM_001081.4(CUBN):c.7508C>A (p.Pro2503Gln)
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.781A>G (p.Thr261Ala)
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.793_794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr) rs2131430377
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.7997_8003delinsAACCTTTGTTATACCTTTGTCACCAACGAACGTGTCAT (p.Trp2666_His2668delinsTer)
NM_001081.4(CUBN):c.8003A>G (p.His2668Arg)
NM_001081.4(CUBN):c.8016C>A (p.Asn2672Lys)
NM_001081.4(CUBN):c.8018A>C (p.Glu2673Ala)
NM_001081.4(CUBN):c.8020C>T (p.Arg2674Cys)
NM_001081.4(CUBN):c.8063-6T>G
NM_001081.4(CUBN):c.8081T>C (p.Ile2694Thr)
NM_001081.4(CUBN):c.8104del (p.Ser2702fs) rs1564412484
NM_001081.4(CUBN):c.8114_8115delinsTATGACACAAGCC (p.Tyr2705delinsLeuTer)
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
NM_001081.4(CUBN):c.8134C>G (p.Leu2712Val)
NM_001081.4(CUBN):c.8161G>A (p.Ala2721Thr)
NM_001081.4(CUBN):c.8161G>T (p.Ala2721Ser)
NM_001081.4(CUBN):c.8207T>C (p.Ile2736Thr)
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8222C>T (p.Thr2741Ile)
NM_001081.4(CUBN):c.8231G>C (p.Trp2744Ser) rs983265041
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.8290T>C (p.Cys2764Arg)
NM_001081.4(CUBN):c.8341G>A (p.Val2781Met)
NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)
NM_001081.4(CUBN):c.8389A>G (p.Thr2797Ala)
NM_001081.4(CUBN):c.8437A>G (p.Asn2813Asp)
NM_001081.4(CUBN):c.8440G>C (p.Gly2814Arg)
NM_001081.4(CUBN):c.8446A>G (p.Ile2816Val)
NM_001081.4(CUBN):c.845A>G (p.Asn282Ser)
NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)
NM_001081.4(CUBN):c.8526C>G (p.His2842Gln)
NM_001081.4(CUBN):c.8533A>T (p.Ile2845Phe)
NM_001081.4(CUBN):c.8578T>C (p.Cys2860Arg)
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8598+1G>T
NM_001081.4(CUBN):c.8599-18T>C
NM_001081.4(CUBN):c.8618A>C (p.Glu2873Ala)
NM_001081.4(CUBN):c.8622G>A (p.Val2874=)
NM_001081.4(CUBN):c.8639C>T (p.Ala2880Val)
NM_001081.4(CUBN):c.8666G>A (p.Gly2889Asp)
NM_001081.4(CUBN):c.8690_8691del (p.Thr2897fs)
NM_001081.4(CUBN):c.8691_8693delinsTTA (p.Phe2898Tyr)
NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)
NM_001081.4(CUBN):c.8709G>T (p.Gln2903His)
NM_001081.4(CUBN):c.8719G>A (p.Ala2907Thr)
NM_001081.4(CUBN):c.8726C>T (p.Ala2909Val)
NM_001081.4(CUBN):c.8756-2A>G
NM_001081.4(CUBN):c.8785_8802dup (p.Pro2934_Asn2935insGlyTyrIleIleSerPro)
NM_001081.4(CUBN):c.8790_8791del (p.Ile2931fs)
NM_001081.4(CUBN):c.8800C>T (p.Pro2934Ser)
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8851G>A (p.Glu2951Lys)
NM_001081.4(CUBN):c.8858A>G (p.Asn2953Ser)
NM_001081.4(CUBN):c.8860C>G (p.Pro2954Ala)
NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)
NM_001081.4(CUBN):c.8914G>A (p.Ala2972Thr)
NM_001081.4(CUBN):c.8953A>T (p.Ile2985Phe)
NM_001081.4(CUBN):c.8954T>C (p.Ile2985Thr)
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)
NM_001081.4(CUBN):c.9028G>T (p.Ala3010Ser) rs756775921
NM_001081.4(CUBN):c.9029C>G (p.Ala3010Gly)
NM_001081.4(CUBN):c.909C>T (p.Cys303=)
NM_001081.4(CUBN):c.9103A>G (p.Ile3035Val)
NM_001081.4(CUBN):c.9110GTG[2] (p.Gly3039del)
NM_001081.4(CUBN):c.9113G>A (p.Gly3038Asp)
NM_001081.4(CUBN):c.9154G>A (p.Ala3052Thr)
NM_001081.4(CUBN):c.9181G>T (p.Asp3061Tyr)
NM_001081.4(CUBN):c.9197A>G (p.Tyr3066Cys)
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
NM_001081.4(CUBN):c.9236+5G>C
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9247T>C (p.Phe3083Leu)
NM_001081.4(CUBN):c.9266C>A (p.Thr3089Asn)
NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)
NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)
NM_001081.4(CUBN):c.929A>C (p.Glu310Ala)
NM_001081.4(CUBN):c.9310A>G (p.Thr3104Ala)
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
NM_001081.4(CUBN):c.9350G>A (p.Arg3117His)
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9425G>A (p.Gly3142Asp)
NM_001081.4(CUBN):c.9443G>A (p.Arg3148Gln)
NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)
NM_001081.4(CUBN):c.9454+1G>A
NM_001081.4(CUBN):c.9461A>G (p.Gln3154Arg)
NM_001081.4(CUBN):c.9491C>T (p.Ser3164Leu)
NM_001081.4(CUBN):c.94A>G (p.Arg32Gly)
NM_001081.4(CUBN):c.9518C>G (p.Ser3173Cys)
NM_001081.4(CUBN):c.9535T>A (p.Tyr3179Asn)
NM_001081.4(CUBN):c.9553del (p.Cys3185fs)
NM_001081.4(CUBN):c.9556_9557del (p.Val3186fs)
NM_001081.4(CUBN):c.9561G>T (p.Trp3187Cys)
NM_001081.4(CUBN):c.9586G>A (p.Val3196Ile)
NM_001081.4(CUBN):c.9612del (p.Phe3204fs)
NM_001081.4(CUBN):c.9613G>A (p.Ala3205Thr)
NM_001081.4(CUBN):c.961C>T (p.Pro321Ser)
NM_001081.4(CUBN):c.962C>T (p.Pro321Leu)
NM_001081.4(CUBN):c.964G>A (p.Val322Ile)
NM_001081.4(CUBN):c.9653A>T (p.Asp3218Val)
NM_001081.4(CUBN):c.9664-2A>C
NM_001081.4(CUBN):c.9664-8del
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
NM_001081.4(CUBN):c.9673G>A (p.Gly3225Arg)
NM_001081.4(CUBN):c.9689C>T (p.Ala3230Val)
NM_001081.4(CUBN):c.9724C>T (p.Pro3242Ser)
NM_001081.4(CUBN):c.9742T>A (p.Ser3248Thr)
NM_001081.4(CUBN):c.976A>C (p.Asn326His)
NM_001081.4(CUBN):c.9806C>T (p.Ala3269Val)
NM_001081.4(CUBN):c.9826+3G>A
NM_001081.4(CUBN):c.9828G>A (p.Met3276Ile)
NM_001081.4(CUBN):c.9896C>A (p.Pro3299Gln)
NM_001081.4(CUBN):c.9907T>C (p.Phe3303Leu)
NM_001081.4(CUBN):c.9941C>T (p.Pro3314Leu)
NM_001081.4(CUBN):c.9942G>T (p.Pro3314=)
NM_001081.4(CUBN):c.9950A>G (p.Gln3317Arg)
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
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.1113del (p.Val372fs)
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.1192del (p.Ala398fs)
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.1202dup (p.Tyr401Ter)
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>C (p.Ser40=)
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.1234del (p.Thr412fs)
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+1351C>A
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.1333_1334del (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>A
NM_001243279.3(ACSF3):c.1367-13C>T
NM_001243279.3(ACSF3):c.1367-15G>T
NM_001243279.3(ACSF3):c.1367-18A>G
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.1367-2A>C
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.1382_1383del (p.Val460_Phe461insTer)
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.1394_1411del (p.Gln465_Gly470del) rs1459270286
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>C (p.Thr479=)
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.1448dup (p.Val484fs)
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.1469A>T (p.Glu490Val)
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.1485_1486dup (p.His496fs)
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.1502-8A>C
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.1523C>T (p.Pro508Leu)
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>C (p.Phe53=)
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.1632C>G (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.1663del (p.Glu555fs)
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.1724C>A (p.Pro575His)
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.24C>T (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.342_344delinsCTG (p.Ser115Ter)
NM_001243279.3(ACSF3):c.344C>A (p.Ser115Ter)
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=) rs1446396475
NM_001243279.3(ACSF3):c.358G>T (p.Gly120Cys)
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.495C>T (p.Val165=)
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.501G>T (p.Leu167=)
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=) rs1403364770
NM_001243279.3(ACSF3):c.516_522del (p.Ala173fs)
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.606C>T (p.Thr202=)
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.628A>T (p.Lys210Ter)
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>A
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>G
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.696G>A (p.Trp232Ter)
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.776G>A (p.Trp259Ter)
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+17G>A
NM_001243279.3(ACSF3):c.822+1G>A rs2151416991
NM_001243279.3(ACSF3):c.822+2T>C rs1975502704
NM_001243279.3(ACSF3):c.822+9G>C
NM_001243279.3(ACSF3):c.823-17C>G
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.83G>A (p.Gly28Glu)
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.947del (p.Phe316fs)
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.977+2T>C
NM_001243279.3(ACSF3):c.978-11_978-9del
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.1063A>C (p.Ile355Leu)
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.107A>G (p.Asn36Ser)
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.1103T>C (p.Met368Thr)
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.1160G>A (p.Arg387Gln)
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.1168-15C>T
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.1307T>C (p.Ile436Thr)
NM_001258392.3(CLPB):c.1318C>A (p.Leu440Met)
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+12del
NM_001258392.3(CLPB):c.1329+14G>A
NM_001258392.3(CLPB):c.1329+1G>A rs2135500473
NM_001258392.3(CLPB):c.1329+9_1329+10inv
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
NM_001258392.3(CLPB):c.1353G>T (p.Gly451=)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
NM_001258392.3(CLPB):c.1378A>G (p.Ile460Val)
NM_001258392.3(CLPB):c.138G>A (p.Gln46=)
NM_001258392.3(CLPB):c.1398T>C (p.Asn466=)
NM_001258392.3(CLPB):c.13C>T (p.Leu5=)
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.1431G>A (p.Leu477=)
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys) rs143522576
NM_001258392.3(CLPB):c.1457T>C (p.Met486Thr)
NM_001258392.3(CLPB):c.1467C>T (p.Asn489=)
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+6G>A
NM_001258392.3(CLPB):c.1486+6del
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.1487-6C>T
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.1557G>A (p.Leu519=)
NM_001258392.3(CLPB):c.1560+19C>T
NM_001258392.3(CLPB):c.1560+2_1560+5del
NM_001258392.3(CLPB):c.1560+7G>A
NM_001258392.3(CLPB):c.1561-11_1561-10delinsCT
NM_001258392.3(CLPB):c.1561-12C>G
NM_001258392.3(CLPB):c.1561-18C>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>G (p.Phe541Leu)
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.1647C>T (p.Leu549=)
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
NM_001258392.3(CLPB):c.164G>A (p.Arg55His)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile) rs1949509947
NM_001258392.3(CLPB):c.1666T>C (p.Phe556Leu)
NM_001258392.3(CLPB):c.166C>T (p.Pro56Ser)
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn) rs2135485638
NM_001258392.3(CLPB):c.1680+18A>G
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.1687C>A (p.Gln563Lys)
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.1751A>G (p.Asn584Ser)
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.177G>T (p.Ser59=)
NM_001258392.3(CLPB):c.1785+13G>A
NM_001258392.3(CLPB):c.1785+18A>C
NM_001258392.3(CLPB):c.1786-14C>T
NM_001258392.3(CLPB):c.1786-7C>A
NM_001258392.3(CLPB):c.1787T>C (p.Val596Ala)
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.1812G>A (p.Leu604=)
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.1833C>T (p.Asp611=)
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
NM_001258392.3(CLPB):c.1843G>A (p.Gly615Arg)
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.187T>C (p.Phe63Leu)
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
NM_001258392.3(CLPB):c.1897A>G (p.Ser633Gly)
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.1946G>A (p.Arg649His)
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1957A>G (p.Ile653Val)
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.2007C>A (p.His669Gln)
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.216G>C (p.Gly72=)
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
NM_001258392.3(CLPB):c.218G>T (p.Arg73Leu)
NM_001258392.3(CLPB):c.221dup (p.Gly76fs) rs2135181870
NM_001258392.3(CLPB):c.223G>A (p.Gly75Arg)
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.274C>T (p.Pro92Ser)
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.294C>T (p.Leu98=)
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
NM_001258392.3(CLPB):c.31G>A (p.Ala11Thr)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly) rs1856636073
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
NM_001258392.3(CLPB):c.340G>A (p.Gly114Ser)
NM_001258392.3(CLPB):c.341G>A (p.Gly114Asp)
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.374A>G (p.His125Arg)
NM_001258392.3(CLPB):c.375T>C (p.His125=)
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.427C>T (p.Arg143Cys)
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.456-5T>C
NM_001258392.3(CLPB):c.456-99GCCATACACTGAAAATATTCCTCTGTCTTGTTTTAGGCTGTTGTCAGAAGGTGCAGATGTCAA[4]
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.514A>G (p.Met172Val)
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
NM_001258392.3(CLPB):c.527T>C (p.Ile176Thr)
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.543-14G>T
NM_001258392.3(CLPB):c.543-1G>A
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.573T>C (p.Ala191=)
NM_001258392.3(CLPB):c.577C>A (p.Pro193Thr)
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu) rs2135677270
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
NM_001258392.3(CLPB):c.611A>G (p.Lys204Arg)
NM_001258392.3(CLPB):c.646+14G>C
NM_001258392.3(CLPB):c.646+3A>G
NM_001258392.3(CLPB):c.646+7247C>T
NM_001258392.3(CLPB):c.646+7250C>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.647-5C>G
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.659G>A (p.Arg220Gln)
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
NM_001258392.3(CLPB):c.666T>A (p.Asp222Glu)
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.714G>A (p.Thr238=)
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.749G>T (p.Arg250Leu)
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.766C>T (p.Leu256Phe)
NM_001258392.3(CLPB):c.775+14T>C
NM_001258392.3(CLPB):c.775+1G>A
NM_001258392.3(CLPB):c.775+8C>T
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>G (p.Asn261Ser)
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
NM_001258392.3(CLPB):c.784C>T (p.Pro262Ser)
NM_001258392.3(CLPB):c.787del (p.Leu263fs)
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.830G>A (p.Arg277Gln)
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.873+7C>T
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>C (p.Glu302Ala)
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.911G>A (p.Arg304Gln)
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.96T>A (p.Ala32=)
NM_001258392.3(CLPB):c.970A>G (p.Ile324Val)
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.989-5C>T
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.1089G>A (p.Leu363=)
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.1162G>T (p.Gly388Trp)
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.1308C>T (p.Cys436=)
NM_001352514.2(HLCS):c.130C>G (p.Gln44Glu)
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.1418G>A (p.Gly473Glu)
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.1438-1G>C
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.1440_1443dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
NM_001352514.2(HLCS):c.1446A>G (p.Leu482=)
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.1483G>A (p.Glu495Lys)
NM_001352514.2(HLCS):c.1493del (p.Asn498fs)
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.1570dup (p.Met524fs)
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.1600dup (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.1610C>G (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+2T>G
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.1648_1649insATAAGAGGGATATG (p.Leu550fs)
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+2T>C
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.1893-4G>T
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.1935dup (p.Ala646fs)
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.2169C>T (p.Asp723=)
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.2193G>C (p.Leu731=)
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.2237-17T>G rs1320109632
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.2287C>T (p.Leu763Phe)
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.2353G>A (p.Ala785Thr)
NM_001352514.2(HLCS):c.2357G>C (p.Arg786Thr)
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.2379del (p.Lys793fs)
NM_001352514.2(HLCS):c.2384T>A (p.Ile795Asn)
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.2398del (p.Asp800fs)
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.2429A>G (p.Tyr810Cys)
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.2451-2A>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.246A>G (p.Ile82Met)
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.2567C>G (p.Pro856Arg)
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
NM_001352514.2(HLCS):c.2577C>T (p.Asn859=)
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.2617C>T (p.Arg873Trp)
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+2T>C
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.494-5C>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.494C>T (p.Ser165Leu)
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.529A>T (p.Lys177Ter)
NM_001352514.2(HLCS):c.531G>A (p.Lys177=)
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.722G>A (p.Gly241Asp)
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.749del (p.Leu250fs)
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.854G>A (p.Ser285Asn)
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.966C>G (p.Ala322=)
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_001354601.3(IVD):c.1204G>C (p.Glu402Gln)
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>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+10G>A
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.-6del
NM_001370658.1(BTD):c.1000del (p.Thr334fs)
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.1029A>C (p.Lys343Asn)
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.1097G>A (p.Trp366Ter) rs397514401
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.1134delinsAA (p.Met378fs)
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.1214_1216del (p.Tyr405del)
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
NM_001370658.1(BTD):c.1220_1224del (p.Leu407fs)
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.1254_1298dup (p.Tyr433_Tyr434insAlaLeuGlyValPheAspGlyLeuHisThrValHisGlyThrTyr)
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.1270G>T (p.Asp424Tyr)
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.1280A>G (p.His427Arg)
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.1311G>C (p.Val437=)
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.1334del (p.Gly445fs)
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.134A>G (p.His45Arg) rs397514341
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
NM_001370658.1(BTD):c.1350dup (p.Cys451fs) rs886041559
NM_001370658.1(BTD):c.1352G>C (p.Cys451Ser)
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.1399T>C (p.Trp467Arg) rs397514422
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.143_146dup (p.Ser50fs)
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.1485G>A (p.Glu495=)
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs) rs1553654220
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys) rs199859507
NM_001370658.1(BTD):c.1499del (p.Phe500fs)
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.190G>A (p.Glu64Lys)
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.204G>C (p.Gln68His)
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+11T>C
NM_001370658.1(BTD):c.249+16G>A
NM_001370658.1(BTD):c.249+19A>C
NM_001370658.1(BTD):c.249+1G>A rs373249212
NM_001370658.1(BTD):c.249+3A>G
NM_001370658.1(BTD):c.249+5G>T rs2065329555
NM_001370658.1(BTD):c.250-14G>A
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>A
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.253_254dup (p.Gln86fs)
NM_001370658.1(BTD):c.255A>G (p.Val85=)
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.311C>T (p.Ser104Phe)
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs) rs1057516223
NM_001370658.1(BTD):c.325T>C (p.Leu109=)
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_44del (p.Cys13fs)
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.3G>A (p.Met1Ile)
NM_001370658.1(BTD):c.400-13T>C
NM_001370658.1(BTD):c.400-16C>T
NM_001370658.1(BTD):c.400-18C>T
NM_001370658.1(BTD):c.400-19A>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.400-8del
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.430_431del (p.Arg144fs) rs397514365
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.499C>T (p.Pro167Ser) rs397507173
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.553A>G (p.Thr185Ala)
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.570C>A (p.Tyr190Ter)
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.676T>C (p.Phe226Leu)
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu) rs398123140
NM_001370658.1(BTD):c.683dup (p.Leu229fs)
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.70_71del (p.Thr24fs)
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.768C>A (p.Leu256=) rs775730599
NM_001370658.1(BTD):c.768C>G (p.Leu256=)
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.782C>T (p.Ala261Val)
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.79G>C (p.Glu27Gln)
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.845A>G (p.His282Arg)
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.872G>A (p.Ser291Asn) rs397514394
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.887del (p.Pro296fs)
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.906C>G (p.Tyr302Ter)
NM_001370658.1(BTD):c.91_92del (p.Asp31fs)
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.1053C>A (p.Tyr351Ter)
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.1106T>A (p.Met369Lys)
NM_001609.4(ACADSB):c.1128+11_1128+26del
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+3A>G rs760423996
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
NM_001609.4(ACADSB):c.1170G>A (p.Gly390=)
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.1213del (p.Arg405fs)
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+12T>G
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.18dup (p.Arg7fs)
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.227T>G (p.Ile76Ser)
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.304-1G>T
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.36C>A (p.Ser12Arg)
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.508A>T (p.Lys170Ter)
NM_001609.4(ACADSB):c.510+1G>A
NM_001609.4(ACADSB):c.511-14del
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.548G>A (p.Ser183Asn)
NM_001609.4(ACADSB):c.596A>G (p.Tyr199Cys)
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser) rs145529589
NM_001609.4(ACADSB):c.647T>C (p.Leu216Pro)
NM_001609.4(ACADSB):c.653dup (p.Val219fs) rs755014798
NM_001609.4(ACADSB):c.681+1G>A
NM_001609.4(ACADSB):c.682-349C>A rs1850491397
NM_001609.4(ACADSB):c.682-7T>C rs886046779
NM_001609.4(ACADSB):c.68dup (p.Leu23fs)
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
NM_001609.4(ACADSB):c.734A>G (p.His245Arg)
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
NM_001609.4(ACADSB):c.746del (p.Pro249fs) rs779015128
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.900G>C (p.Gln300His)
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_001609.4(ACADSB):c.992del
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.112G>T (p.Gly38Cys)
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.163G>C (p.Val55Leu)
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.197dup (p.Tyr67fs)
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.221A>C (p.Glu74Ala)
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+1G>C
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.31G>A (p.Ala11Thr)
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.418+5G>A
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.474C>T (p.Val158=)
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+5G>A
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.599-8C>T
NM_001698.3(AUH):c.612_613insC (p.Met205fs)
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.738A>T (p.Lys246Asn)
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.830_831del (p.Glu277fs)
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.95del (p.Pro32fs)
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.1006T>C (p.Cys336Arg)
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.1136_1138+4del
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.1166C>T (p.Pro389Leu)
NM_002225.5(IVD):c.1167C>T (p.Pro389=) rs2141373519
NM_002225.5(IVD):c.1179T>C (p.Phe393=)
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.1201G>T (p.Glu401Ter)
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.123G>A (p.Gly41=)
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.1256A>G (p.Asn419Ser)
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+327G>A
NM_002225.5(IVD):c.144+4A>G
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.145-5A>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.192G>A (p.Lys64=)
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.1A>G (p.Met1Val)
NM_002225.5(IVD):c.204C>A (p.Ile68=)
NM_002225.5(IVD):c.206_209del (p.Asp69fs)
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.235-16T>C
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.261_262delinsTT (p.Gly88Cys)
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+15T>C
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.340G>C (p.Glu114Gln)
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.386A>G (p.His129Arg)
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+1G>A
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>A
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.648G>C (p.Val216=)
NM_002225.5(IVD):c.650del (p.Pro217fs) rs1364046355
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+15G>A
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.688-1G>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.810del (p.Asn270fs)
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.835G>A (p.Gly279Arg)
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.856G>A (p.Val286Met)
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098
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.871C>G (p.Pro291Ala)
NM_002225.5(IVD):c.872C>T (p.Pro291Leu)
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+5G>A
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.948C>G (p.Ile316Met)
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>A
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-20T>C
NM_002225.5(IVD):c.961-20T>G
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+16A>C
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+11G>C
NM_005050.4(ABCD4):c.1118+1G>A
NM_005050.4(ABCD4):c.1118+1G>T
NM_005050.4(ABCD4):c.1118+2T>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.1188C>T (p.Ala396=)
NM_005050.4(ABCD4):c.1190C>A (p.Pro397His)
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.1237G>T (p.Glu413Ter)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val) rs2081160348
NM_005050.4(ABCD4):c.1257C>T (p.Ile419=)
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.1326G>A (p.Arg442=)
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.1338G>A (p.Gln446=)
NM_005050.4(ABCD4):c.1343_1349delinsCCCATGGG (p.Leu448fs)
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+13T>C
NM_005050.4(ABCD4):c.1456+14C>T
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.1508C>A (p.Ser503Tyr)
NM_005050.4(ABCD4):c.1519G>A (p.Ala507Thr)
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.157+15C>T
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys) rs2140107509
NM_005050.4(ABCD4):c.158-14C>T
NM_005050.4(ABCD4):c.158-1G>C
NM_005050.4(ABCD4):c.158-7C>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.1626G>A (p.Pro542=)
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.219C>T (p.Asn73=)
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.244_245del (p.Leu82fs)
NM_005050.4(ABCD4):c.285+18C>G
NM_005050.4(ABCD4):c.285+1G>T
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.321G>A (p.Leu107=)
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.426-1G>A
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.442C>T (p.Gln148Ter)
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>A (p.Tyr176Ter)
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.565_566del (p.Ser189fs)
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.657G>A (p.Glu219=)
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
NM_005050.4(ABCD4):c.669-1G>A
NM_005050.4(ABCD4):c.669-2A>G
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.689G>A (p.Arg230Gln)
NM_005050.4(ABCD4):c.708del (p.Ala237fs)
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.767dup (p.Leu257fs)
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.912A>C (p.Ala304=)
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
NM_005050.4(ABCD4):c.936+1G>A
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.1059C>T (p.Cys353=)
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.1085-13C>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.120C>T (p.Ala40=)
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.1330G>C (p.Gly444Arg)
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.1447G>A (p.Val483Ile)
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.1548G>A (p.Val516=)
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1569G>A (p.Val523=)
NM_005334.3(HCFC1):c.156C>T (p.Asn52=)
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.194-19G>T
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.2133+7T>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.2145C>T (p.Pro715=)
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.225G>A (p.Arg75=)
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.2535C>T (p.Ile845=)
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.2636-16G>C
NM_005334.3(HCFC1):c.2636-18T>A
NM_005334.3(HCFC1):c.2636-6C>T
NM_005334.3(HCFC1):c.2636-7C>G
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.2766G>A (p.Gln922=)
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+7C>T
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.2903G>A (p.Gly968Glu)
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.2962G>C (p.Glu988Gln)
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.3021C>T (p.Gly1007=)
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.3090C>T (p.Thr1030=)
NM_005334.3(HCFC1):c.3120C>T (p.His1040=)
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.3175C>T (p.Leu1059Phe)
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.3210C>T (p.Ser1070=)
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.3453G>A (p.Val1151=)
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.3571C>T (p.Pro1191Ser)
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.3699C>T (p.His1233=)
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.3733T>C (p.Ser1245Pro)
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.3837G>A (p.Leu1279=)
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>G (p.Thr1296=)
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.3945G>A (p.Arg1315=)
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.4226C>G (p.Ala1409Gly)
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
NM_005334.3(HCFC1):c.4233C>T (p.Phe1411=)
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+16C>T
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.4387A>G (p.Ser1463Gly)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
NM_005334.3(HCFC1):c.4394A>G (p.Asn1465Ser)
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.4639G>T (p.Val1547Leu)
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.481G>A (p.Asp161Asn)
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.4968C>T (p.Ser1656=)
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.5003G>C (p.Gly1668Ala)
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+18T>C
NM_005334.3(HCFC1):c.503+8T>G
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_005334.3(HCFC1):c.5035G>T (p.Ala1679Ser)
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.504-3C>T
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.5175C>T (p.Asp1725=)
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
NM_005334.3(HCFC1):c.5190C>T (p.Ser1730=)
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.5211C>T (p.Ala1737=)
NM_005334.3(HCFC1):c.5212G>A (p.Gly1738Ser)
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.5271A>G (p.Pro1757=)
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.5340C>T (p.Thr1780=)
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
NM_005334.3(HCFC1):c.5364C>T (p.Ile1788=)
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.5389C>T (p.Leu1797=)
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5394G>A (p.Pro1798=)
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.5533G>A (p.Val1845Ile)
NM_005334.3(HCFC1):c.5535C>A (p.Val1845=)
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
NM_005334.3(HCFC1):c.5542T>C (p.Tyr1848His)
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.5685T>C (p.Cys1895=)
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.5704-10T>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.5705G>A (p.Ser1902Asn)
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.5782G>A (p.Ala1928Thr)
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.5978C>T (p.Pro1993Leu)
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.713-10C>G
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.805G>A (p.Val269Met)
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.840C>T (p.Asp280=)
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
NM_005334.3(HCFC1):c.858C>T (p.His286=)
NM_005334.3(HCFC1):c.867G>A (p.Glu289=)
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.1216G>T (p.Gly406Cys)
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.420del (p.Ala141fs)
NM_013247.5(HTRA2):c.508C>A (p.His170Asn)
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_014263.4(YME1L1):c.1999C>G (p.Leu667Val)
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.1046-15A>G
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.1070C>A (p.Pro357Gln)
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
NM_014362.4(HIBCH):c.1090C>T (p.Leu364=)
NM_014362.4(HIBCH):c.10C>T (p.Arg4Cys)
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.12_35del (p.Glu5_Arg12del)
NM_014362.4(HIBCH):c.138G>A (p.Thr46=)
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.312G>C (p.Ser104=)
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.405T>C (p.Tyr135=)
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.420T>A (p.His140Gln)
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>A (p.Cys163Tyr)
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe) rs74832989
NM_014362.4(HIBCH):c.494_495del (p.Phe165fs)
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg) rs1341440380
NM_014362.4(HIBCH):c.517+12G>T
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.536G>A (p.Gly179Asp)
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.644A>G (p.His215Arg)
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.664-7C>T
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+12G>C
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.850T>C (p.Leu284=)
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.891+9G>A
NM_014362.4(HIBCH):c.921A>G (p.Leu307=)
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_014384.3(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.1223T>C (p.Ile408Thr)
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.444G>A (p.Pro148=)
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.567+2del
NM_014384.3(ACAD8):c.567G>C (p.Lys189Asn)
NM_014384.3(ACAD8):c.568-2A>T
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.705+12T>C
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
NM_014384.3(ACAD8):c.758T>G (p.Val253Gly)
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+14G>T
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.856G>A (p.Gly286Arg)
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.867C>T (p.His289=)
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.895C>T (p.Leu299Phe)
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.940-20C>T
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.107C>G (p.Pro36Arg)
NM_015506.3(MMACHC):c.120C>T (p.His40=)
NM_015506.3(MMACHC):c.122dup (p.Pro42fs)
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.146C>T (p.Ala49Val)
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.160A>G (p.Ser54Gly)
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.173T>C (p.Met58Thr)
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.181C>A (p.Arg61=)
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.195C>G (p.Pro65=)
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.271_272insC (p.Arg91fs)
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.304A>G (p.Ile102Val)
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.30G>C (p.Gln10His)
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.354_365dup (p.Ala121_His122insGlnThrAlaAla)
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.374G>C (p.Gly125Ala)
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.403G>A (p.Val135Met)
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>A
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.430-1G>A
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.455_457del (p.Pro152del)
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.468_470del (p.Trp157del)
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.47T>C (p.Leu16Pro)
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.509A>T (p.Glu170Val)
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.557G>A (p.Arg186Lys)
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.592T>C (p.Phe198Leu)
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.604G>T (p.Asp202Tyr)
NM_015506.3(MMACHC):c.609dup (p.Thr204fs)
NM_015506.3(MMACHC):c.611C>T (p.Thr204Ile)
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.655C>G (p.Gln219Glu)
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.687del (p.Gln229fs)
NM_015506.3(MMACHC):c.689G>A (p.Arg230Gln)
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.704del (p.Gly235fs)
NM_015506.3(MMACHC):c.707T>C (p.Leu236Ser)
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.711T>C (p.Ala237=)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
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.748C>A (p.Leu250Ile)
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.764C>T (p.Pro255Leu)
NM_015506.3(MMACHC):c.766G>A (p.Ala256Thr)
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>A (p.Pro257=)
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>A (p.Phe26Leu)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=) rs770431439
NM_015506.3(MMACHC):c.790A>C (p.Ser264Arg)
NM_015506.3(MMACHC):c.791G>A (p.Ser264Asn)
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.845C>G (p.Pro282Arg)
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.157_191del (p.Ser53fs)
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) rs118204047
NM_015702.3(MMADHC):c.165A>G (p.Thr55=)
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>G (p.Pro64=)
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.268C>T (p.Gln90Ter)
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.329A>G (p.Glu110Gly)
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.369dup (p.Gln124fs)
NM_015702.3(MMADHC):c.372+17A>G
NM_015702.3(MMADHC):c.372+19_372+20del
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.479-8A>T
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.525T>A (p.Ile175=)
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.683C>G (p.Ser228Ter)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=) rs766184567
NM_015702.3(MMADHC):c.684A>G (p.Ser228=)
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.9+5G>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.1075C>T (p.Leu359=)
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.1140T>G (p.Thr380=)
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.1185T>A (p.Ile395=)
NM_018368.4(LMBRD1):c.1187_1188+2del
NM_018368.4(LMBRD1):c.1187_1188+3del
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.1230C>G (p.Leu410=)
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.1A>G (p.Met1Val)
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.247-11T>G
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.308-14_308-12del
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.363C>T (p.Phe121=)
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.406-16del
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.44G>A (p.Trp15Ter)
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>A
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.54C>T (p.Phe18=)
NM_018368.4(LMBRD1):c.553G>T (p.Gly185Ter)
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+1del
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.632dup (p.Tyr211Ter)
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.637-18C>A
NM_018368.4(LMBRD1):c.637-8T>C
NM_018368.4(LMBRD1):c.637-8_637-3del
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.690del (p.Ala231fs)
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.70-12G>T
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.760A>T (p.Lys254Ter)
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.77dup (p.Leu26fs)
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.916-16A>G
NM_018368.4(LMBRD1):c.916-1G>T
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_018368.4(LMBRD1):c.9T>G (p.Thr3=)
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.1000A>G (p.Met334Val)
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
NM_020166.5(MCCC1):c.1012A>G (p.Thr338Ala)
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.1084-13A>G
NM_020166.5(MCCC1):c.1084-1G>C rs2108479565
NM_020166.5(MCCC1):c.1084-1G>T
NM_020166.5(MCCC1):c.1084-2A>C
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.1110G>A (p.Leu370=)
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.1197A>G (p.Ala399=)
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.1289A>G (p.Tyr430Cys)
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.1363del (p.Leu455fs) rs796051986
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.1371G>A (p.Gln457=)
NM_020166.5(MCCC1):c.1377+16C>A
NM_020166.5(MCCC1):c.1377+2T>C
NM_020166.5(MCCC1):c.1377+6T>G rs1369902442
NM_020166.5(MCCC1):c.1378-17G>A
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.1394C>T (p.Thr465Ile) rs1000891879
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.1420T>C (p.Ser474Pro)
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.147T>C (p.Ile49=)
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.1527C>A (p.Cys509Ter) rs1713695107
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.1592A>G (p.His531Arg)
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.165A>C (p.Ala55=)
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.1721dup (p.Tyr574Ter)
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.1730A>T (p.Gln577Leu)
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.1732-18A>G
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1732-2A>C
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.1780G>A (p.Asp594Asn)
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.1820G>A (p.Ser607Asn)
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.1881T>C (p.Ile627=)
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys) rs2108565998
NM_020166.5(MCCC1):c.1898del (p.Val633fs)
NM_020166.5(MCCC1):c.1899C>T (p.Val633=)
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.1986C>T (p.Val662=)
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.2047G>A (p.Glu683Lys)
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.2050-20C>T
NM_020166.5(MCCC1):c.2050-2A>C
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.251_252del (p.Arg84fs)
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+15T>C
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.273+5G>A
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.286T>C (p.Tyr96His)
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.300del (p.Ala101fs)
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.321C>A (p.Tyr107Ter)
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.342T>G (p.Ile114Met)
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.492-3A>G
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+5G>C
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.664C>T (p.Gln222Ter)
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.693A>G (p.Ala231=)
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.761+2T>C
NM_020166.5(MCCC1):c.761+9G>T
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.823_824del (p.Asp275fs)
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.860AGG[1] (p.Glu288del)
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>G
NM_020166.5(MCCC1):c.874-15A>T
NM_020166.5(MCCC1):c.874-18T>A
NM_020166.5(MCCC1):c.874-1G>T
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.881_891del (p.Ile294fs)
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.1008T>C (p.Ala336=)
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.110T>A (p.Leu37Ter)
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.1128_1129del (p.Phe377_Ser378insTer)
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.1147A>T (p.Lys383Ter)
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.1150-1G>C
NM_022132.5(MCCC2):c.1150-2A>G
NM_022132.5(MCCC2):c.1150-4A>G
NM_022132.5(MCCC2):c.1151del
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
NM_022132.5(MCCC2):c.1154del (p.Thr385fs)
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
NM_022132.5(MCCC2):c.1165C>A (p.Gln389Lys)
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.1184_1192delinsGCATTTGAAGAAA (p.Asn395_Leu398delinsSerIleTer)
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.1208del (p.Asn403fs)
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>A
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.1297C>T (p.Gln433Ter)
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.1337G>A (p.Gly446Glu)
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+1G>A
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>G (p.Arg460Gly)
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)
NM_022132.5(MCCC2):c.1437C>G (p.Ala479=)
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.145A>G (p.Met49Val)
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+2T>A
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.1511C>T (p.Ala504Val)
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
NM_022132.5(MCCC2):c.1537T>C (p.Phe513Leu)
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.1571C>T (p.Ala524Val)
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.1580G>A (p.Trp527Ter)
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.1666A>G (p.Thr556Ala)
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+11C>G
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.1A>G (p.Met1Val)
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.224A>G (p.His75Arg)
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu) rs140027063
NM_022132.5(MCCC2):c.231_232del (p.Gly79fs)
NM_022132.5(MCCC2):c.237A>G (p.Gly79=) rs2112293709
NM_022132.5(MCCC2):c.242dup (p.Leu82fs)
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.253G>T (p.Glu85Ter)
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.327T>A (p.Tyr109Ter)
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.384-19T>A
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>G (p.Tyr145Ter)
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.449_450del (p.Val150fs) rs1554134061
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.477T>C (p.Ile159=)
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.505T>G (p.Tyr169Asp)
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+2C>T
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>A (p.Ser173Ter)
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.625-11T>C
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.625-1G>A
NM_022132.5(MCCC2):c.628G>A (p.Ala210Thr)
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.671C>G (p.Pro224Arg)
NM_022132.5(MCCC2):c.671C>T (p.Pro224Leu)
NM_022132.5(MCCC2):c.672T>C (p.Pro224=) rs1337800475
NM_022132.5(MCCC2):c.685G>T (p.Glu229Ter)
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.70C>G (p.His24Asp)
NM_022132.5(MCCC2):c.70del (p.His24fs)
NM_022132.5(MCCC2):c.711T>C (p.Gly237=)
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>G
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.797A>T (p.His266Leu)
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.843_844delinsCTTTGGATCACTTTGG (p.His282fs)
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+19T>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.*24359_*24363del rs1599947088
NM_025136.3(OPA3):c.*24457A>G rs375580763
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.109T>C (p.Phe37Leu)
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.119A>G (p.Tyr40Cys)
NM_025136.4(OPA3):c.11G>A (p.Gly4Asp)
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
NM_025136.4(OPA3):c.122T>G (p.Ile41Ser)
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.140A>G (p.Gln47Arg)
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.143-18C>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.143-3C>A
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.164G>A (p.Arg55Gln)
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.176G>C (p.Arg59Pro)
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.191G>A (p.Arg64Gln)
NM_025136.4(OPA3):c.194G>T (p.Gly65Val)
NM_025136.4(OPA3):c.194del (p.Gly65fs) rs2122440638
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.23T>G (p.Met8Arg)
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.263C>T (p.Thr88Ile)
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
NM_025136.4(OPA3):c.273C>G (p.Ile91Met)
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.280G>A (p.Gly94Ser)
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.29A>G (p.Lys10Arg)
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del) rs1555736840
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
NM_025136.4(OPA3):c.308G>A (p.Arg103His)
NM_025136.4(OPA3):c.308_312del (p.Arg103fs)
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.31C>T (p.Leu11=)
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del) rs80356526
NM_025136.4(OPA3):c.323A>G (p.Gln108Arg)
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.386T>A (p.Leu129Gln)
NM_025136.4(OPA3):c.389CGCTGG[1] (p.130AL[1])
NM_025136.4(OPA3):c.389CGCTGG[3] (p.Leu133_Glu134insAlaLeu)
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.39C>G (p.Tyr13Ter)
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.411_422delinsC (p.Gln137fs)
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.442G>C (p.Ala148Pro)
NM_025136.4(OPA3):c.442G>T (p.Ala148Ser)
NM_025136.4(OPA3):c.443C>T (p.Ala148Val)
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.55del (p.Val19fs)
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.82_84delinsT (p.Ile27_Lys28insTer)
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>C (p.Arg33=)
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
NM_030813.6(CLPB):c.652G>A (p.Gly218Arg)
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.679A>G (p.Thr227Ala)
NM_030813.6(CLPB):c.687G>C (p.Gln229His)
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.1016-20A>G
NM_032861.4(SERAC1):c.1016-31_1016-17del rs374730949
NM_032861.4(SERAC1):c.1027A>T (p.Ile343Phe) rs1784395214
NM_032861.4(SERAC1):c.1053C>T (p.Pro351=)
NM_032861.4(SERAC1):c.1056C>T (p.His352=)
NM_032861.4(SERAC1):c.1074C>T (p.His358=)
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
NM_032861.4(SERAC1):c.1122_1124dup (p.Tyr375Ter)
NM_032861.4(SERAC1):c.1161A>G (p.Arg387=)
NM_032861.4(SERAC1):c.1166+15G>A
NM_032861.4(SERAC1):c.1166+2dup
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.1181C>A (p.Ala394Glu)
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.129-1G>C
NM_032861.4(SERAC1):c.129-9C>A
NM_032861.4(SERAC1):c.1290T>C (p.Tyr430=)
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.1332T>A (p.Pro444=)
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.1379G>A (p.Trp460Ter)
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+15T>C
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+3_1501+6dup
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.1502-15C>T
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.1525T>C (p.Leu509=)
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
NM_032861.4(SERAC1):c.1533C>G (p.Ala511=)
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.1645C>T (p.Leu549Phe)
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.1685-19G>A
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.1821A>G (p.Glu607=) rs367951518
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.1895dup (p.Asp633fs)
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.263A>G (p.His88Arg)
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.289G>T (p.Glu97Ter)
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.447C>T (p.Leu149=)
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.507T>C (p.Ile169=)
NM_032861.4(SERAC1):c.511C>T (p.Gln171Ter)
NM_032861.4(SERAC1):c.531T>C (p.Thr177=)
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
NM_032861.4(SERAC1):c.548G>A (p.Arg183Gln)
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.597A>G (p.Pro199=)
NM_032861.4(SERAC1):c.610-17C>G
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter) rs1383515185
NM_032861.4(SERAC1):c.642G>T (p.Leu214Phe)
NM_032861.4(SERAC1):c.686A>G (p.Tyr229Cys)
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+15T>A
NM_032861.4(SERAC1):c.738+1927G>C
NM_032861.4(SERAC1):c.738+5G>C
NM_032861.4(SERAC1):c.738+8C>T
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.804A>G (p.Ser268=)
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.822C>T (p.Phe274=)
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.903del (p.Gln302fs)
NM_032861.4(SERAC1):c.91+13T>A
NM_032861.4(SERAC1):c.91+14A>G
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.959G>A (p.Arg320His)
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+16G>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.134G>A (p.Arg45Lys)
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>G (p.Leu6Val)
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.197-2A>G
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.245del (p.Val82fs)
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.250G>A (p.Glu84Lys)
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.282A>G (p.Ser94=)
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.28C>A (p.Leu10Ile)
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+3A>G
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.291-7T>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.312A>C (p.Thr104=)
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
NM_052845.4(MMAB):c.327A>C (p.Thr109=)
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.349-9G>C
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
NM_052845.4(MMAB):c.367G>A (p.Asp123Asn)
NM_052845.4(MMAB):c.367del (p.Asp123fs) rs1387128853
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.379G>A (p.Ala127Thr)
NM_052845.4(MMAB):c.37_57delinsCAA (p.Gly13_Arg19delinsGln)
NM_052845.4(MMAB):c.381C>T (p.Ala127=) rs1204546700
NM_052845.4(MMAB):c.386C>T (p.Ala129Val)
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.406C>T (p.Arg136Trp)
NM_052845.4(MMAB):c.407G>A (p.Arg136Gln) rs796051994
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.422A>G (p.Lys141Arg)
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.475A>C (p.Lys159Gln)
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.511A>G (p.Ile171Val)
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.519dup (p.Ser174fs)
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.542C>G (p.Ala181Gly)
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.56_60delinsAAGGT (p.Arg19Gln)
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.577G>T (p.Glu193Ter)
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+2T>A
NM_052845.4(MMAB):c.584+2T>C
NM_052845.4(MMAB):c.584+4A>T
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.590T>C (p.Val197Ala)
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.599dup (p.Gln201fs)
NM_052845.4(MMAB):c.5C>T (p.Ala2Val)
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.620C>A (p.Ala207Glu)
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+4C>G
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.659T>C (p.Leu220Pro)
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.683C>T (p.Ala228Val)
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
NM_052845.4(MMAB):c.701_702del (p.Gln234fs)
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
NM_052845.4(MMAB):c.703G>A (p.Glu235Lys)
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_130837.3(OPA1):c.2873_2876del rs80356530
NM_145261.4(DNAJC19):c.*190ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*528GT[9] rs148074891
NM_145261.4(DNAJC19):c.102del (p.Lys34fs)
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.122del (p.Pro41fs)
NM_145261.4(DNAJC19):c.129+7C>T rs2108509597
NM_145261.4(DNAJC19):c.130-4T>C
NM_145261.4(DNAJC19):c.132C>G (p.Ala44=)
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.168dup (p.Lys57fs)
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.219C>T (p.Ala73=)
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.263del (p.Leu87_Leu88insTer)
NM_145261.4(DNAJC19):c.26G>T (p.Gly9Val)
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.281-16_281-15del
NM_145261.4(DNAJC19):c.281-21_281-19del
NM_145261.4(DNAJC19):c.281-21_281-20del
NM_145261.4(DNAJC19):c.281-2A>C
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.28C>T (p.Leu10=)
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+11C>A
NM_145261.4(DNAJC19):c.3+13T>C rs2108511019
NM_145261.4(DNAJC19):c.3+7G>T
NM_145261.4(DNAJC19):c.30G>C (p.Leu10=)
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.45A>G (p.Ala15=)
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.-5C>G
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.1020T>C (p.Asp340=)
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.1034T>C (p.Phe345Ser)
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172250.3(MMAA):c.1036C>T (p.Gln346Ter)
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.1049T>A (p.Leu350His)
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.1061A>G (p.Glu354Gly)
NM_172250.3(MMAA):c.1067del (p.Thr356fs)
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.1108C>T (p.Leu370Phe)
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.1130del (p.Glu377fs)
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.1220C>T (p.Ala407Val)
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter) rs1728203978
NM_172250.3(MMAA):c.1241T>C (p.Phe414Ser)
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.210C>T (p.Thr70=)
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.265C>G (p.Leu89Val)
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.281T>C (p.Ile94Thr)
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.320T>C (p.Leu107Pro)
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
NM_172250.3(MMAA):c.32A>G (p.His11Arg)
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.349G>T (p.Glu117Ter)
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+2T>A
NM_172250.3(MMAA):c.439+2T>C
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.440G>A (p.Gly147Glu)
NM_172250.3(MMAA):c.441dup (p.Leu148fs) rs1553958126
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
NM_172250.3(MMAA):c.44_45delinsAA (p.Gly15Glu)
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.473C>T (p.Thr158Ile)
NM_172250.3(MMAA):c.488T>G (p.Phe163Cys)
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.51A>G (p.Leu17=)
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.551G>A (p.Cys184Tyr)
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+17C>A
NM_172250.3(MMAA):c.562+18T>G
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.600A>T (p.Leu200Phe)
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.616G>A (p.Ala206Thr)
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.634C>G (p.Pro212Ala)
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.660G>A (p.Val220=)
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.772G>A (p.Asp258Asn)
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.776T>C (p.Met259Thr) rs1328403056
NM_172250.3(MMAA):c.780del (p.Phe260fs)
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.803G>T (p.Gly268Val)
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+24del
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.820-18T>C
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.820G>C (p.Gly274Arg)
NM_172250.3(MMAA):c.821del
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
NM_172250.3(MMAA):c.836_837del (p.Ile279fs)
NM_172250.3(MMAA):c.845T>C (p.Met282Thr)
NM_172250.3(MMAA):c.851del (p.Asp284fs)
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
NM_172250.3(MMAA):c.856G>C (p.Val286Leu)
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.877G>A (p.Gly293Arg)
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.904A>G (p.Ile302Val)
NM_172250.3(MMAA):c.911C>T (p.Ala304Val)
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.946C>T (p.Arg316Cys)
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.970-3T>C
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.988del (p.Arg330fs)
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)

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