ClinVar Miner

List of variants reported as likely benign for classic organic aciduria by Invitae

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6169
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672 0.00316
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_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921 0.00231
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
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_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323 0.00157
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053 0.00151
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys) rs141868117 0.00150
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799 0.00133
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_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met) rs139792723 0.00111
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397 0.00110
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_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_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_014384.3(ACAD8):c.211-20C>T rs200508056 0.00089
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
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.429+7G>A rs201986472 0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
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_001698.3(AUH):c.140C>T (p.Pro47Leu) rs200564356 0.00068
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_001243279.3(ACSF3):c.823-4G>C rs558325262 0.00067
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026 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_015702.3(MMADHC):c.741A>G (p.Glu247=) rs146820547 0.00062
NM_000282.4(PCCA):c.870C>T (p.Cys290=) rs141174380 0.00060
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=) rs145155300 0.00059
NM_001609.4(ACADSB):c.1228+8G>C rs202191462 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_001243279.3(ACSF3):c.1614-10G>C rs370941606 0.00056
NM_001370658.1(BTD):c.252T>C (p.Asp84=) rs138545268 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_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_014384.3(ACAD8):c.110-17T>C rs372435194 0.00054
NM_001243279.3(ACSF3):c.978-7C>T rs190927208 0.00051
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_001258392.3(CLPB):c.1560+11T>C rs113954132 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_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_005050.4(ABCD4):c.1507-18C>T rs368891249 0.00047
NM_001243279.3(ACSF3):c.1614-6C>T rs368789945 0.00046
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) rs200886053 0.00046
NM_005050.4(ABCD4):c.425+13A>G rs370752716 0.00046
NM_015506.3(MMACHC):c.277-4C>G rs199889403 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_001258392.3(CLPB):c.455+8G>C rs200993434 0.00044
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=) rs373886730 0.00044
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_001370658.1(BTD):c.411C>T (p.Arg137=) rs141240202 0.00041
NM_005050.4(ABCD4):c.1118+9C>T rs370581068 0.00041
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser) rs144907014 0.00040
NM_001258392.3(CLPB):c.159G>A (p.Gly53=) rs146260335 0.00040
NM_032861.4(SERAC1):c.1308+7G>A rs201873667 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_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=) rs138862492 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_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_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_025136.4(OPA3):c.143-7C>T rs375551151 0.00036
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378 0.00035
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) rs146779456 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_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_022132.5(MCCC2):c.738+9A>G rs776559643 0.00033
NM_001698.3(AUH):c.807G>A (p.Arg269=) rs145208407 0.00032
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 0.00032
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00032
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870 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_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055 0.00031
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser) rs371714495 0.00031
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_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259 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_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181 0.00028
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_032861.4(SERAC1):c.1828+10C>G rs374374755 0.00027
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_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096 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_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134 0.00026
NM_001243279.3(ACSF3):c.978-6G>A rs377217672 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.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.1326C>T (p.Pro442=) rs143393390 0.00024
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp) rs144238478 0.00024
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser) rs767062135 0.00023
NM_001370658.1(BTD):c.430A>C (p.Arg144=) rs556096072 0.00023
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673 0.00023
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693 0.00023
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn) rs149822970 0.00022
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn) rs139901585 0.00022
NM_000532.5(PCCB):c.303+8T>A rs199769617 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_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000282.4(PCCA):c.415-10C>T rs376120578 0.00020
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659 0.00020
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu) rs141970893 0.00020
NM_005334.3(HCFC1):c.4942+8C>T rs1013019333 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_000282.4(PCCA):c.1131T>G (p.Ala377=) rs754991015 0.00019
NM_000532.5(PCCB):c.510G>A (p.Val170=) rs1212025973 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_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518 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_005050.4(ABCD4):c.1680C>T (p.Ser560=) rs138753274 0.00019
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg) rs201807738 0.00019
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828 0.00018
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) rs150686471 0.00018
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 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_000191.3(HMGCL):c.145-8C>T rs369286537 0.00016
NM_000532.5(PCCB):c.1399-19T>C rs368309360 0.00016
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844 0.00016
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) rs142092069 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_014384.3(ACAD8):c.939+11C>T rs372904463 0.00016
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His) rs185334169 0.00016
NM_025136.4(OPA3):c.33G>T (p.Leu11=) rs148805518 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_001243279.3(ACSF3):c.1197C>T (p.Cys399=) rs768148002 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_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
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_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) rs200971130 0.00014
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745 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_002225.5(IVD):c.879-5G>A rs750569823 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_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln) rs770932848 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_000282.4(PCCA):c.862A>C (p.Arg288=) rs121964957 0.00013
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) rs139902499 0.00013
NM_001370658.1(BTD):c.400-4C>T rs372355662 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.1605+16T>G rs375698764 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_000019.4(ACAT1):c.1164-14T>C rs111849528 0.00012
NM_000282.4(PCCA):c.300+20G>T rs371217257 0.00012
NM_001243279.3(ACSF3):c.1502-18C>G rs759372180 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_001352514.2(HLCS):c.1938G>A (p.Ala646=) rs370347318 0.00012
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys) rs200453837 0.00012
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00012
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624 0.00012
NM_014384.3(ACAD8):c.178A>G (p.Met60Val) rs374985215 0.00012
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295 0.00012
NM_000532.5(PCCB):c.544-20T>C rs370010917 0.00011
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) rs189568082 0.00011
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) rs113731967 0.00011
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388 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.1438C>T (p.Leu480=) rs150206202 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_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_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_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.1732-9T>A rs370660849 0.00011
NM_020166.5(MCCC1):c.89+13G>C rs774187137 0.00011
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 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.666G>A (p.Thr222=) rs369296142 0.00011
NM_145261.4(DNAJC19):c.129+15A>C rs201697391 0.00011
NM_172250.3(MMAA):c.440-17A>T rs373100355 0.00011
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946 0.00010
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000282.4(PCCA):c.2016C>T (p.Ala672=) rs773033856 0.00010
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.555G>A (p.Thr185=) rs543691110 0.00010
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960 0.00010
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) rs749994320 0.00010
NM_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.645C>A (p.Pro215=) rs140769832 0.00010
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182 0.00010
NM_001609.4(ACADSB):c.807+10G>A rs367568388 0.00010
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=) rs542032495 0.00010
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 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_018368.4(LMBRD1):c.406-6A>C rs373257303 0.00010
NM_020166.5(MCCC1):c.762-5T>C rs369355125 0.00010
NM_000019.4(ACAT1):c.22C>T (p.Leu8=) rs775668624 0.00009
NM_000191.3(HMGCL):c.498-10C>A rs373505626 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_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_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.2088C>T (p.Val696=) rs150794567 0.00009
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=) rs138387445 0.00009
NM_001370658.1(BTD):c.1047G>A (p.Pro349=) rs140890299 0.00009
NM_002225.5(IVD):c.1139-9T>C rs373295135 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.3399A>G (p.Arg1133=) rs782522290 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.567+8C>T rs574233188 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 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_030813.6(CLPB):c.736+2T>C rs201350869 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.440-6C>T rs374784209 0.00009
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala) rs577313004 0.00008
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_000282.4(PCCA):c.1540+20T>C rs754203055 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000282.4(PCCA):c.638-10C>T rs763390049 0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_001017989.3(OPA3):c.406T>C (p.Leu136=) rs535476484 0.00008
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) rs376903098 0.00008
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=) rs746277054 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_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.378G>C (p.Lys126Asn) rs200639044 0.00008
NM_032861.4(SERAC1):c.1403+11C>T rs369586400 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_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000532.5(PCCB):c.430-5C>G rs369339939 0.00007
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys) rs148578333 0.00007
NM_001258392.3(CLPB):c.921C>T (p.Phe307=) rs561993207 0.00007
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys) rs745652723 0.00007
NM_001352514.2(HLCS):c.816C>T (p.Ala272=) rs376665169 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_002225.5(IVD):c.903C>T (p.His301=) rs759116078 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.3892G>A (p.Glu1298Lys) rs781949446 0.00007
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00007
NM_014384.3(ACAD8):c.984C>T (p.Ala328=) rs766640729 0.00007
NM_015702.3(MMADHC):c.513C>G (p.Gly171=) rs373384350 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_145261.4(DNAJC19):c.280+2dup rs756616792 0.00007
NM_172250.3(MMAA):c.733+13T>C rs768662983 0.00007
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788 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_000191.3(HMGCL):c.882G>A (p.Val294=) rs1370242689 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.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.66C>G (p.Arg22=) rs759836996 0.00006
NM_000532.5(PCCB):c.966+17T>C rs752703797 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_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.1743C>T (p.Asp581=) rs147296630 0.00006
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=) rs73196003 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_001370658.1(BTD):c.1528C>G (p.Leu510Val) rs201852672 0.00006
NM_001370658.1(BTD):c.522C>T (p.Phe174=) rs750363004 0.00006
NM_001609.4(ACADSB):c.757T>C (p.Leu253=) rs776888756 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.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+7G>A rs782241441 0.00006
NM_014362.4(HIBCH):c.312G>A (p.Ser104=) rs201502204 0.00006
NM_014362.4(HIBCH):c.35+10A>C rs747167987 0.00006
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser) rs200170162 0.00006
NM_014384.3(ACAD8):c.846C>G (p.Ser282=) rs200330956 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.821T>C (p.Val274Ala) rs569132013 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.1410T>G (p.Ala470=) rs761693513 0.00006
NM_018368.4(LMBRD1):c.637-13G>A rs776621535 0.00006
NM_020166.5(MCCC1):c.1083+10T>A rs374971501 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.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) rs139091481 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_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=) rs200729208 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.561+8C>G rs372648949 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 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_001243279.3(ACSF3):c.1233G>A (p.Gly411=) rs777928520 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_001258392.3(CLPB):c.1362T>A (p.Ile454=) rs547364848 0.00005
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220 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.1857C>A (p.Ala619=) rs759178651 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.39C>T (p.Cys13=) rs201564216 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 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.795C>T (p.Asp265=) rs761573002 0.00005
NM_002225.5(IVD):c.111T>C (p.Asp37=) rs887220079 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_005050.4(ABCD4):c.1495T>C (p.Leu499=) rs561519173 0.00005
NM_005050.4(ABCD4):c.249A>G (p.Thr83=) rs773214307 0.00005
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=) rs781810369 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.4218G>A (p.Ala1406=) rs782670703 0.00005
NM_014384.3(ACAD8):c.408C>T (p.Phe136=) rs143408080 0.00005
NM_018368.4(LMBRD1):c.474-20A>G rs952976480 0.00005
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2050-17G>C rs371009096 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.72C>T (p.His24=) rs374686220 0.00005
NM_030813.6(CLPB):c.660C>T (p.Asp220=) rs759358526 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.1221A>G (p.Ala407=) rs767115507 0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807 0.00005
NM_000019.4(ACAT1):c.1006-17C>G rs1409314804 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.546C>T (p.Asp182=) rs373393997 0.00004
NM_000019.4(ACAT1):c.636C>T (p.Asp212=) rs759659537 0.00004
NM_000019.4(ACAT1):c.730+12G>A rs559179516 0.00004
NM_000019.4(ACAT1):c.918T>A (p.Val306=) rs200318899 0.00004
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000191.3(HMGCL):c.145-13C>T rs762224192 0.00004
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710 0.00004
NM_000282.4(PCCA):c.1176C>T (p.Asn392=) rs138597181 0.00004
NM_000282.4(PCCA):c.184-6C>T rs542777393 0.00004
NM_000282.4(PCCA):c.2025C>G (p.Val675=) rs891946343 0.00004
NM_000282.4(PCCA):c.2040+11T>C rs200641726 0.00004
NM_000282.4(PCCA):c.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.819+9A>G rs372739944 0.00004
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248 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.1541G>A (p.Arg514Gln) rs577625696 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.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.663C>G (p.Ser221=) rs771455499 0.00004
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) rs201792144 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.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.936C>T (p.His312=) rs202119269 0.00004
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=) rs538912422 0.00004
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=) rs758906536 0.00004
NM_001258392.3(CLPB):c.543-20_543-18del rs759265435 0.00004
NM_001258392.3(CLPB):c.646+7371C>T rs369768699 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.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.918A>G (p.Gly306=) rs767988985 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.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001609.4(ACADSB):c.510+13G>C rs773089971 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.844-20T>C rs769924401 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.784+20G>A rs375795386 0.00004
NM_005050.4(ABCD4):c.1327+8C>T rs199678602 0.00004
NM_005050.4(ABCD4):c.1752+7G>A rs376322555 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.3279C>T (p.Thr1093=) rs782250826 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.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.984C>T (p.Val328=) rs782409511 0.00004
NM_014362.4(HIBCH):c.550T>C (p.Leu184=) rs777785491 0.00004
NM_014384.3(ACAD8):c.615C>T (p.Cys205=) rs200275294 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_015702.3(MMADHC):c.696+13C>A rs199528296 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.297C>T (p.Tyr99=) rs139154326 0.00004
NM_018368.4(LMBRD1):c.562+19A>T rs200488577 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.1338G>A (p.Ala446=) rs373049854 0.00004
NM_020166.5(MCCC1):c.136+7A>G rs559629034 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.66C>T (p.Leu22=) rs750778690 0.00004
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=) rs765801018 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.999+16A>G rs1241526106 0.00004
NM_025136.4(OPA3):c.303C>T (p.Tyr101=) rs752010426 0.00004
NM_032861.4(SERAC1):c.355+10C>T rs760497677 0.00004
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202 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.168C>G (p.Pro56=) rs752857938 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.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_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) rs141007488 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_000019.4(ACAT1):c.1028A>G (p.Lys343Arg) rs149171104 0.00003
NM_000019.4(ACAT1):c.325T>C (p.Leu109=) rs772625970 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.761C>T (p.Ala254Val) rs200909606 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.6A>G (p.Ala2=) rs375969301 0.00003
NM_000191.3(HMGCL):c.774T>C (p.Ser258=) rs568796561 0.00003
NM_000282.4(PCCA):c.1576T>C (p.Leu526=) rs564315582 0.00003
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583 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.915-18A>T rs780272314 0.00003
NM_000532.5(PCCB):c.1399-5C>T rs575227657 0.00003
NM_000532.5(PCCB):c.1569C>G (p.Ala523=) rs1418405958 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.654+12G>T rs770141659 0.00003
NM_000532.5(PCCB):c.855G>A (p.Pro285=) rs982512877 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_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.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.978-4G>A rs370451473 0.00003
NM_001258392.3(CLPB):c.105G>T (p.Arg35=) rs1336037926 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.990G>A (p.Ala330=) rs765172842 0.00003
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=) rs768927843 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.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.885C>T (p.Pro295=) rs139989284 0.00003
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881 0.00003
NM_001370658.1(BTD):c.400-10T>G rs750494564 0.00003
NM_001370658.1(BTD):c.72C>T (p.Thr24=) rs765550405 0.00003
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys) rs753466926 0.00003
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=) rs755539165 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.657G>A (p.Gly219=) rs141110052 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.264C>T (p.Gly88=) rs377199313 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.873T>C (p.Pro291=) rs537402391 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.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.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 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.5613C>T (p.Ala1871=) rs1557112253 0.00003
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=) rs369626014 0.00003
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 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.82-10T>C rs778416032 0.00003
NM_015506.3(MMACHC):c.831T>C (p.Pro277=) rs1322086708 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 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.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.2010G>A (p.Ala670=) rs370727510 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.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.1344A>G (p.Gly448=) rs201238842 0.00003
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) rs1049308310 0.00003
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) rs1266022580 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.864G>A (p.Arg288=) rs368236133 0.00003
NM_022132.5(MCCC2):c.999+8A>G rs575141754 0.00003
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726 0.00003
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=) rs774371194 0.00003
NM_052845.4(MMAB):c.507C>T (p.Ala169=) rs776916498 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.563-12T>C rs199938583 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_000019.4(ACAT1):c.105A>G (p.Ser35=) rs1442033328 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.579+11T>C rs1191067994 0.00002
NM_000019.4(ACAT1):c.687G>A (p.Gly229=) rs545578010 0.00002
NM_000019.4(ACAT1):c.941-9T>G rs980651269 0.00002
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 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_000191.3(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.324A>G (p.Pro108=) rs932601140 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.636G>A (p.Gly212=) rs1471029861 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_000282.4(PCCA):c.1285-4C>T rs372262089 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.318G>A (p.Ala106=) rs752769607 0.00002
NM_000282.4(PCCA):c.469-6C>T rs1411689584 0.00002
NM_000282.4(PCCA):c.638-5G>A rs764316702 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.12A>G (p.Ala4=) rs1476876445 0.00002
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=) rs199541514 0.00002
NM_000532.5(PCCB):c.1338C>T (p.His446=) rs958149789 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.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.480C>T (p.Asp160=) rs1454839953 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_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.1671G>A (p.Pro557=) rs747338200 0.00002
NM_001243279.3(ACSF3):c.294C>G (p.Val98=) rs1439239345 0.00002
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=) rs749371364 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.645G>A (p.Thr215=) rs772996642 0.00002
NM_001243279.3(ACSF3):c.667-7C>T rs770578916 0.00002
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=) rs753810945 0.00002
NM_001243279.3(ACSF3):c.978-5C>T rs767914459 0.00002
NM_001258392.3(CLPB):c.1786-6C>T rs191389918 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.1548A>G (p.Thr516=) rs144016759 0.00002
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=) rs776800808 0.00002
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=) rs748819971 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.477A>C (p.Val159=) rs779019472 0.00002
NM_001352514.2(HLCS):c.519G>C (p.Leu173=) rs142669894 0.00002
NM_001370658.1(BTD):c.-17+11G>A rs563797222 0.00002
NM_001370658.1(BTD):c.1311G>A (p.Val437=) rs753880468 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.534C>T (p.Val178=) rs757159632 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.852A>G (p.Pro284=) rs778024234 0.00002
NM_001370658.1(BTD):c.972C>T (p.Leu324=) rs117806438 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.655+15C>T rs781269099 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 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.219G>A (p.Glu73=) rs748950739 0.00002
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252 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.897G>A (p.Leu299=) rs751049911 0.00002
NM_002225.5(IVD):c.9T>C (p.Thr3=) rs370886046 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.374G>A (p.Arg125Gln) rs368694663 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.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.3455C>G (p.Ala1152Gly) rs868914963 0.00002
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) rs373289538 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.504-5G>A rs1362015008 0.00002
NM_005334.3(HCFC1):c.5517+16T>A rs782354980 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.438+11T>G rs1414998551 0.00002
NM_014384.3(ACAD8):c.491-6C>T rs772337149 0.00002
NM_015506.3(MMACHC):c.105G>A (p.Leu35=) rs1415635839 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.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967 0.00002
NM_015506.3(MMACHC):c.810C>T (p.Leu270=) rs778330842 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_018368.4(LMBRD1):c.1188+7A>T rs375681915 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.39C>T (p.Ile13=) rs368494826 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.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) rs147087448 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 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+9G>T rs780170482 0.00002
NM_020166.5(MCCC1):c.761+14A>G rs372797109 0.00002
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=) rs766440020 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.1488+10del rs767400522 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.142+16A>G rs1969904812 0.00002
NM_025136.4(OPA3):c.15G>C (p.Ala5=) rs763315476 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_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_032861.4(SERAC1):c.1684+7C>A rs765831183 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.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_145261.4(DNAJC19):c.210-17T>C rs750700018 0.00002
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=) rs367996239 0.00002
NM_172250.3(MMAA):c.1059G>A (p.Gly353=) rs552250080 0.00002
NM_172250.3(MMAA):c.1140G>A (p.Arg380=) rs1209585004 0.00002
NM_172250.3(MMAA):c.585C>T (p.Thr195=) rs571797666 0.00002
NM_172250.3(MMAA):c.970-6C>T rs774402841 0.00002
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.1191T>C (p.His397=) rs1439617035 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.171C>A (p.Gly57=) rs757128075 0.00001
NM_000019.4(ACAT1):c.267A>G (p.Ala89=) rs1380608828 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.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.39C>T (p.Arg13=) rs908924449 0.00001
NM_000019.4(ACAT1):c.438T>C (p.Asp146=) rs1447450319 0.00001
NM_000019.4(ACAT1):c.477T>G (p.Val159=) rs1200544048 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.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.759T>C (p.Asp253=) rs983216159 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_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.231T>C (p.His77=) rs782223969 0.00001
NM_000116.5(TAFAZZIN):c.238+11C>G rs1163786089 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.54C>T (p.Thr18=) rs781846964 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.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_000191.3(HMGCL):c.141A>G (p.Glu47=) rs776280224 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.339C>T (p.Phe113=) rs112352538 0.00001
NM_000191.3(HMGCL):c.345A>C (p.Ala115=) rs761706911 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.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.498-14_498-13del rs753940756 0.00001
NM_000191.3(HMGCL):c.498-7C>T rs764007608 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 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.60+7G>A rs368461149 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.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.816A>T (p.Ala272=) rs141340718 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.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_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.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.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.1437A>G (p.Thr479=) rs1224037636 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.1541-15A>G rs748759552 0.00001
NM_000282.4(PCCA):c.1659A>G (p.Lys553=) rs764395477 0.00001
NM_000282.4(PCCA):c.1764G>A (p.Ser588=) rs772158996 0.00001
NM_000282.4(PCCA):c.1785G>A (p.Thr595=) rs766312551 0.00001
NM_000282.4(PCCA):c.1800G>A (p.Ser600=) rs761681712 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.184-5T>C rs780230606 0.00001
NM_000282.4(PCCA):c.1899+7A>G rs950344042 0.00001
NM_000282.4(PCCA):c.1995G>A (p.Pro665=) rs1357780167 0.00001
NM_000282.4(PCCA):c.2001C>T (p.Pro667=) rs778845861 0.00001
NM_000282.4(PCCA):c.2010G>A (p.Val670=) rs1343608733 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.2136T>C (p.Cys712=) rs781085655 0.00001
NM_000282.4(PCCA):c.231+8G>A rs199996461 0.00001
NM_000282.4(PCCA):c.30G>T (p.Pro10=) rs1206173421 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.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.453A>G (p.Glu151=) rs897110640 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.637+18C>A rs758676556 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.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.864A>G (p.Arg288=) rs771222501 0.00001
NM_000282.4(PCCA):c.987T>C (p.Tyr329=) rs778986379 0.00001
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=) rs769437282 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.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.1300-11A>G rs200406126 0.00001
NM_000532.5(PCCB):c.1302C>T (p.Ala434=) rs755024380 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.1383A>C (p.Ala461=) rs1354285306 0.00001
NM_000532.5(PCCB):c.1399-10C>T rs774180307 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.1499-6C>T rs769854818 0.00001
NM_000532.5(PCCB):c.1521A>G (p.Gln507=) rs774461715 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.183+7C>G rs1039491317 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.321G>C (p.Val107=) rs201915067 0.00001
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln) rs757534748 0.00001
NM_000532.5(PCCB):c.348A>G (p.Gly116=) rs1057522223 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.414C>T (p.Ala138=) rs781142631 0.00001
NM_000532.5(PCCB):c.483T>G (p.Ser161=) rs751200837 0.00001
NM_000532.5(PCCB):c.507A>C (p.Gly169=) rs1334504053 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.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.654+14G>T rs1457950469 0.00001
NM_000532.5(PCCB):c.660C>T (p.Thr220=) rs376645261 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.741C>T (p.Ala247=) rs191115697 0.00001
NM_000532.5(PCCB):c.747C>T (p.Thr249=) rs746448544 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.801C>T (p.Ala267=) rs759508806 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.909C>T (p.Asp303=) rs375740382 0.00001
NM_000532.5(PCCB):c.942C>T (p.Tyr314=) rs572246667 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.975T>C (p.Asp325=) rs746146640 0.00001
NM_000532.5(PCCB):c.978G>A (p.Glu326=) rs1419967211 0.00001
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805 0.00001
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=) rs757799912 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.1095C>T (p.Ser365=) rs148716626 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.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.1501+10C>T rs375729407 0.00001
NM_001243279.3(ACSF3):c.1502-10C>T rs573043890 0.00001
NM_001243279.3(ACSF3):c.1502-8A>G rs760700508 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.189C>T (p.His63=) rs562260243 0.00001
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=) rs1259149379 0.00001
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) rs746883692 0.00001
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=) rs763021932 0.00001
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) rs182147718 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.417C>T (p.Cys139=) rs775755554 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.648C>T (p.His216=) rs377553361 0.00001
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=) rs1374928980 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.816T>G (p.Pro272=) rs1321795303 0.00001
NM_001243279.3(ACSF3):c.823-5C>T rs192714121 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.1067-4C>A rs1311832888 0.00001
NM_001258392.3(CLPB):c.1123-14T>C rs761493633 0.00001
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=) rs536717344 0.00001
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=) rs539751194 0.00001
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=) rs776452795 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.1428G>A (p.Ala476=) rs750997439 0.00001
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=) rs752870447 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.1620C>T (p.Pro540=) rs200970392 0.00001
NM_001258392.3(CLPB):c.1681-14C>T rs746122828 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.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.1968C>T (p.Asp656=) rs757217501 0.00001
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387 0.00001
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335 0.00001
NM_001258392.3(CLPB):c.39G>A (p.Ala13=) rs572605602 0.00001
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059 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.646+13T>C rs370275901 0.00001
NM_001258392.3(CLPB):c.647-6C>T rs1377454533 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.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_001352514.2(HLCS):c.1083T>C (p.Cys361=) rs568871363 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.1227A>C (p.Ala409=) rs776771975 0.00001
NM_001352514.2(HLCS):c.1242C>G (p.Val414=) rs772203778 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.1719C>T (p.Tyr573=) rs148814769 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.2034A>G (p.Arg678=) rs945618984 0.00001
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=) rs556886743 0.00001
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=) rs764487201 0.00001
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=) rs367725468 0.00001
NM_001352514.2(HLCS):c.2418C>G (p.Val806=) rs759416272 0.00001
NM_001352514.2(HLCS):c.2463C>A (p.Val821=) rs779439814 0.00001
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=) rs199936080 0.00001
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=) rs202028605 0.00001
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=) rs372467001 0.00001
NM_001352514.2(HLCS):c.456C>A (p.Leu152=) rs778232930 0.00001
NM_001352514.2(HLCS):c.498G>A (p.Val166=) rs2066944593 0.00001
NM_001352514.2(HLCS):c.513C>T (p.Ser171=) rs755797089 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.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.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.981C>T (p.His327=) rs773664058 0.00001
NM_001352514.2(HLCS):c.996G>A (p.Val332=) rs745472061 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.1092C>T (p.Thr364=) rs753278397 0.00001
NM_001370658.1(BTD):c.1101C>T (p.Asn367=) rs756863026 0.00001
NM_001370658.1(BTD):c.1161T>C (p.Pro387=) rs749528636 0.00001
NM_001370658.1(BTD):c.1200T>C (p.Asn400=) rs2065658628 0.00001
NM_001370658.1(BTD):c.1236C>A (p.Thr412=) rs1575030932 0.00001
NM_001370658.1(BTD):c.1377G>A (p.Thr459=) rs535292517 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.249+15C>T rs760435212 0.00001
NM_001370658.1(BTD):c.255A>C (p.Val85=) rs369304137 0.00001
NM_001370658.1(BTD):c.600A>G (p.Ala200=) rs757071809 0.00001
NM_001370658.1(BTD):c.669C>T (p.Phe223=) rs774761127 0.00001
NM_001370658.1(BTD):c.729G>A (p.Val243=) rs777470168 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_001609.4(ACADSB):c.1233G>A (p.Thr411=) rs755167353 0.00001
NM_001609.4(ACADSB):c.219G>A (p.Gln73=) rs756256851 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.555A>G (p.Ser185=) rs762414612 0.00001
NM_001609.4(ACADSB):c.669A>G (p.Val223=) rs750818948 0.00001
NM_001609.4(ACADSB):c.681+14C>T rs748185849 0.00001
NM_001698.3(AUH):c.222G>A (p.Glu74=) rs1587943178 0.00001
NM_001698.3(AUH):c.331-8C>T rs758271092 0.00001
NM_001698.3(AUH):c.798G>A (p.Ala266=) rs760509061 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_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.1146T>C (p.Asn382=) rs1419468231 0.00001
NM_002225.5(IVD):c.1185A>G (p.Arg395=) rs375709475 0.00001
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135 0.00001
NM_002225.5(IVD):c.145-5A>G rs746358275 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.204C>T (p.Ile68=) rs780579571 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.27G>T (p.Gly9=) rs760413553 0.00001
NM_002225.5(IVD):c.297C>T (p.Gly99=) rs377129112 0.00001
NM_002225.5(IVD):c.330G>A (p.Leu110=) rs746017260 0.00001
NM_002225.5(IVD):c.372C>T (p.Leu124=) rs964820890 0.00001
NM_002225.5(IVD):c.453G>A (p.Pro151=) rs535261722 0.00001
NM_002225.5(IVD):c.457-9T>C rs1418302146 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.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.759A>T (p.Leu253=) rs1237759561 0.00001
NM_002225.5(IVD):c.784+12C>T rs572858305 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.798G>C (p.Leu266=) rs1263112437 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.864C>T (p.Ala288=) rs1566939786 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_005050.4(ABCD4):c.1028+17C>T rs1290816055 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.1365G>A (p.Gly455=) rs760206135 0.00001
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=) rs780349078 0.00001
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=) rs747273884 0.00001
NM_005050.4(ABCD4):c.158-7C>A rs557930358 0.00001
NM_005050.4(ABCD4):c.1753-4G>A rs554458015 0.00001
NM_005050.4(ABCD4):c.285+19T>C rs369159114 0.00001
NM_005050.4(ABCD4):c.360C>T (p.His120=) rs1050702853 0.00001
NM_005050.4(ABCD4):c.594C>T (p.Thr198=) rs202070697 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.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.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.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589 0.00001
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=) rs782676033 0.00001
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011 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.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.4333+11G>T rs1557113474 0.00001
NM_005334.3(HCFC1):c.477C>T (p.Ser159=) rs1272514582 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.5172C>T (p.Asn1724=) rs372903122 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_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.892-18A>C rs113980003 0.00001
NM_014362.4(HIBCH):c.897T>C (p.Ile299=) rs763947247 0.00001
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val) rs780609527 0.00001
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322 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.213C>T (p.His71=) rs746112343 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.40G>A (p.Asp14Asn) rs563710045 0.00001
NM_015506.3(MMACHC):c.423G>A (p.Gly141=) rs1035201847 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.570C>T (p.Ile190=) rs769162698 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.828A>G (p.Pro276=) rs1288893138 0.00001
NM_015702.3(MMADHC):c.117G>A (p.Ser39=) rs1448387303 0.00001
NM_015702.3(MMADHC):c.237T>C (p.Gly79=) rs763521620 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.432C>G (p.Ala144=) rs1478523517 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.765T>C (p.Ser255=) rs376860199 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.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.247-4C>T rs1321930777 0.00001
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=) rs773895702 0.00001
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=) rs746900508 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.1272C>T (p.Asp424=) rs779316162 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 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.1401T>C (p.Ile467=) rs763803301 0.00001
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) rs746494126 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 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.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.2136C>T (p.Val712=) rs984881958 0.00001
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=) rs781286566 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.6G>A (p.Ala2=) rs768348047 0.00001
NM_020166.5(MCCC1):c.89+20C>T rs749164963 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487 0.00001
NM_022132.5(MCCC2):c.105G>A (p.Pro35=) rs1365918358 0.00001
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=) rs1394757971 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.1374-19C>A rs761903116 0.00001
NM_022132.5(MCCC2):c.13C>T (p.Leu5=) rs954414863 0.00001
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=) rs1345577961 0.00001
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=) rs201279542 0.00001
NM_022132.5(MCCC2):c.1488+9C>T rs1561848361 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+7G>T rs766044711 0.00001
NM_022132.5(MCCC2):c.196+20C>T rs766988420 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.456A>G (p.Lys152=) rs1409261895 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.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.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.903+8C>T rs1348079727 0.00001
NM_022132.5(MCCC2):c.904-4G>T rs758885126 0.00001
NM_025136.4(OPA3):c.120T>C (p.Tyr40=) rs752657560 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.222G>A (p.Glu74=) rs1241138154 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.354C>T (p.Ala118=) rs745763712 0.00001
NM_025136.4(OPA3):c.381C>T (p.Gly127=) rs1405668670 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.78T>C (p.Arg26=) rs1372988634 0.00001
NM_025136.4(OPA3):c.87G>A (p.Glu29=) rs1194417590 0.00001
NM_032861.4(SERAC1):c.1016-5A>G rs1321114507 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.285A>G (p.Arg95=) rs752918334 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.738+7T>C rs1784954711 0.00001
NM_052845.4(MMAB):c.135-4T>C rs1025409144 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.422-6C>T rs759110803 0.00001
NM_052845.4(MMAB):c.423G>A (p.Lys141=) rs1474862262 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.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.615C>T (p.Thr205=) rs760629956 0.00001
NM_052845.4(MMAB):c.645-8C>G rs1251570137 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.210-19C>T rs780397593 0.00001
NM_145261.4(DNAJC19):c.280+16A>T rs773185733 0.00001
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=) rs771098271 0.00001
NM_172250.3(MMAA):c.1137C>T (p.Phe379=) rs1010401774 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.336C>T (p.His112=) rs771388415 0.00001
NM_172250.3(MMAA):c.33T>C (p.His11=) rs370983676 0.00001
NM_172250.3(MMAA):c.440-5C>T rs759611574 0.00001
NM_172250.3(MMAA):c.563-9A>G rs1361037765 0.00001
NM_172250.3(MMAA):c.702G>A (p.Ala234=) rs781525637 0.00001
NM_172250.3(MMAA):c.734-8A>G rs778057240 0.00001
NM_172250.3(MMAA):c.756T>C (p.Ala252=) rs781124654 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.840C>T (p.Ile280=) rs750509072 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_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+20C>T
NM_000019.4(ACAT1):c.1005+20dup
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.1006-21C>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.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.1044A>C (p.Ala348=) rs2134791187
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=) rs1591374629
NM_000019.4(ACAT1):c.1077T>G (p.Val359=)
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=) rs928429664
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.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.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.1176C>G (p.Ala392=)
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
NM_000019.4(ACAT1):c.120+17G>A
NM_000019.4(ACAT1):c.120+20C>G
NM_000019.4(ACAT1):c.120+20C>T
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.121-12G>A
NM_000019.4(ACAT1):c.121-19C>T
NM_000019.4(ACAT1):c.121-8C>T
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
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.1245A>G (p.Gly415=)
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
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.1278G>A (p.Lys426=)
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=) rs201500937
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
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.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.213A>C (p.Ala71=)
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
NM_000019.4(ACAT1):c.238+11A>G
NM_000019.4(ACAT1):c.238+13T>C
NM_000019.4(ACAT1):c.238+20T>C
NM_000019.4(ACAT1):c.238+20T>G
NM_000019.4(ACAT1):c.238+8G>T rs2135334879
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.24G>T (p.Leu8=)
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.27C>T (p.Arg9=) rs1437592865
NM_000019.4(ACAT1):c.291A>C (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
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.318G>A (p.Gln106=)
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
NM_000019.4(ACAT1):c.330T>C (p.Gly110=) rs2135336464
NM_000019.4(ACAT1):c.334+16T>C
NM_000019.4(ACAT1):c.334+18_334+19del
NM_000019.4(ACAT1):c.334+19T>G
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.335-4T>G
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
NM_000019.4(ACAT1):c.360C>T (p.Thr120=) rs2135341517
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.375T>C (p.Val125=) rs767382364
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
NM_000019.4(ACAT1):c.399C>T (p.Ile133=) rs2135341722
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
NM_000019.4(ACAT1):c.42C>T (p.Ser14=) rs1436280151
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+20C>T
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.436-4G>C rs3741050
NM_000019.4(ACAT1):c.436-8C>T rs2135355544
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
NM_000019.4(ACAT1):c.45C>T (p.Arg15=) rs2135283693
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.492C>T (p.Asn164=) rs2135356062
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.531T>C (p.Asp177=)
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
NM_000019.4(ACAT1):c.550C>T (p.Leu184=) rs2135356370
NM_000019.4(ACAT1):c.579+17G>T
NM_000019.4(ACAT1):c.579+7G>A
NM_000019.4(ACAT1):c.57C>A (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.57C>T (p.Leu19=) rs540416798
NM_000019.4(ACAT1):c.580-14C>A
NM_000019.4(ACAT1):c.580-5dup rs2134760866
NM_000019.4(ACAT1):c.580-7T>C rs565210496
NM_000019.4(ACAT1):c.580-8T>C
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
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.622C>A (p.Arg208=) rs532190594
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.657T>C (p.Tyr219=)
NM_000019.4(ACAT1):c.666T>C (p.Ser222=) rs2134761387
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.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+8G>C
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.73-20_73-18del rs761134266
NM_000019.4(ACAT1):c.73-9A>G
NM_000019.4(ACAT1):c.730+8T>G rs1203808396
NM_000019.4(ACAT1):c.731-10_731-8del
NM_000019.4(ACAT1):c.731-20T>C
NM_000019.4(ACAT1):c.731-20T>G
NM_000019.4(ACAT1):c.731-6T>C rs574669264
NM_000019.4(ACAT1):c.732T>A (p.Gly244=) rs2134768518
NM_000019.4(ACAT1):c.738A>G (p.Pro246=) rs2134768546
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
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.807A>G (p.Thr269=) rs2134768930
NM_000019.4(ACAT1):c.810T>C (p.Val270=) rs768923639
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+7G>A
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.831A>G (p.Thr277=) rs2077608173
NM_000019.4(ACAT1):c.846T>C (p.Asn282=) rs2134772561
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
NM_000019.4(ACAT1):c.903G>T (p.Ala301=) rs75811190
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
NM_000019.4(ACAT1):c.915T>C (p.Asn305=) rs2134773010
NM_000019.4(ACAT1):c.921A>G (p.Thr307=) rs2077610591
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
NM_000019.4(ACAT1):c.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+20C>G
NM_000019.4(ACAT1):c.940+7C>G
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000019.4(ACAT1):c.941-14_941-13del
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.960A>G (p.Val320=)
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
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_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+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.110-15C>G
NM_000116.5(TAFAZZIN):c.110-19A>C
NM_000116.5(TAFAZZIN):c.110-20G>T
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
NM_000116.5(TAFAZZIN):c.238+10C>A
NM_000116.5(TAFAZZIN):c.238+7G>A
NM_000116.5(TAFAZZIN):c.238+9G>C
NM_000116.5(TAFAZZIN):c.239-11C>T
NM_000116.5(TAFAZZIN):c.239-17C>G
NM_000116.5(TAFAZZIN):c.239-17C>T
NM_000116.5(TAFAZZIN):c.239-18G>A
NM_000116.5(TAFAZZIN):c.239-19A>G
NM_000116.5(TAFAZZIN):c.239-6C>T
NM_000116.5(TAFAZZIN):c.239-6del rs1064794479
NM_000116.5(TAFAZZIN):c.239-7C>T rs2148190472
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
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.284+17C>T
NM_000116.5(TAFAZZIN):c.284+8_284+10del
NM_000116.5(TAFAZZIN):c.285-14C>T
NM_000116.5(TAFAZZIN):c.285-5C>T
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=) rs2148191873
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) rs1569552726
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
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.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.39G>T (p.Pro13=)
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
NM_000116.5(TAFAZZIN):c.460+10G>A
NM_000116.5(TAFAZZIN):c.460+10G>T
NM_000116.5(TAFAZZIN):c.460+17G>A
NM_000116.5(TAFAZZIN):c.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.461-7C>T
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=) rs2148210856
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
NM_000116.5(TAFAZZIN):c.541+10G>A rs1396794207
NM_000116.5(TAFAZZIN):c.541+13G>A
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
NM_000116.5(TAFAZZIN):c.541+8G>A
NM_000116.5(TAFAZZIN):c.542-6C>T
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
NM_000116.5(TAFAZZIN):c.584-11C>A
NM_000116.5(TAFAZZIN):c.584-15C>G
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.588C>T (p.Ile196=)
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.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
NM_000116.5(TAFAZZIN):c.646+12G>A
NM_000116.5(TAFAZZIN):c.646+13A>T
NM_000116.5(TAFAZZIN):c.646+15G>A
NM_000116.5(TAFAZZIN):c.646+18G>A
NM_000116.5(TAFAZZIN):c.646+20C>G
NM_000116.5(TAFAZZIN):c.646+7C>T
NM_000116.5(TAFAZZIN):c.646+8T>C
NM_000116.5(TAFAZZIN):c.647-14C>G
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
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.69C>G (p.Val23=)
NM_000116.5(TAFAZZIN):c.700-14C>T
NM_000116.5(TAFAZZIN):c.700-19C>G
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=) rs2148214484
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
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.759G>A (p.Arg253=)
NM_000116.5(TAFAZZIN):c.777+19C>T
NM_000116.5(TAFAZZIN):c.777+20C>T
NM_000116.5(TAFAZZIN):c.778-6C>A
NM_000116.5(TAFAZZIN):c.778-8del
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
NM_000191.3(HMGCL):c.102A>G (p.Lys34=)
NM_000191.3(HMGCL):c.108G>C (p.Val36=)
NM_000191.3(HMGCL):c.121C>A (p.Arg41=)
NM_000191.3(HMGCL):c.123A>T (p.Arg41=) rs2148425859
NM_000191.3(HMGCL):c.130C>T (p.Leu44=)
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+8T>G rs2148425829
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.145-5T>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.150C>A (p.Ile50=) rs376705029
NM_000191.3(HMGCL):c.153A>G (p.Val51=)
NM_000191.3(HMGCL):c.171C>T (p.Ile57=) rs2148424231
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.183C>T (p.Asp61=) rs755922538
NM_000191.3(HMGCL):c.195A>G (p.Glu65=) rs2148424193
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>T (p.Ser75=) rs1357942068
NM_000191.3(HMGCL):c.231G>A (p.Val77=)
NM_000191.3(HMGCL):c.24T>C (p.Leu8=) rs2148428459
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+8C>G
NM_000191.3(HMGCL):c.253-18G>A
NM_000191.3(HMGCL):c.253-7T>C rs1391681111
NM_000191.3(HMGCL):c.274T>C (p.Leu92=)
NM_000191.3(HMGCL):c.27G>C (p.Pro9=)
NM_000191.3(HMGCL):c.315C>G (p.Val105=)
NM_000191.3(HMGCL):c.321C>A (p.Thr107=)
NM_000191.3(HMGCL):c.336C>A (p.Gly112=)
NM_000191.3(HMGCL):c.336C>G (p.Gly112=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=) rs2148428444
NM_000191.3(HMGCL):c.33A>T (p.Arg11=)
NM_000191.3(HMGCL):c.348+14T>G
NM_000191.3(HMGCL):c.348+17_348+19del
NM_000191.3(HMGCL):c.348+20G>A
NM_000191.3(HMGCL):c.348+7_348+9dup
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.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.378C>T (p.Ile126=) rs2148422513
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.414C>T (p.Asn138=)
NM_000191.3(HMGCL):c.423T>C (p.Cys141=) rs2148422474
NM_000191.3(HMGCL):c.42C>T (p.Gly14=) rs1638799252
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.48G>C (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.497+10A>G
NM_000191.3(HMGCL):c.497+13A>G
NM_000191.3(HMGCL):c.497+20T>A
NM_000191.3(HMGCL):c.498-12G>A
NM_000191.3(HMGCL):c.498-12G>C
NM_000191.3(HMGCL):c.498-16C>T
NM_000191.3(HMGCL):c.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.528T>C (p.Tyr176=) rs112508527
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+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.562-20G>C
NM_000191.3(HMGCL):c.562-8T>C rs2148419215
NM_000191.3(HMGCL):c.564C>A (p.Val188=)
NM_000191.3(HMGCL):c.597G>A (p.Glu199=) rs2148419180
NM_000191.3(HMGCL):c.60+10C>T
NM_000191.3(HMGCL):c.60+12G>T
NM_000191.3(HMGCL):c.60+20G>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.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.61-4A>G
NM_000191.3(HMGCL):c.621T>G (p.Gly207=) rs1638449170
NM_000191.3(HMGCL):c.627C>A (p.Gly209=)
NM_000191.3(HMGCL):c.627C>T (p.Gly209=)
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.652C>T (p.Leu218=) rs779813777
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.687C>A (p.Ala229=) rs1638447338
NM_000191.3(HMGCL):c.699C>T (p.His233=)
NM_000191.3(HMGCL):c.6A>T (p.Ala2=) rs375969301
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>G (p.Thr237=)
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)
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.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.751-10A>G
NM_000191.3(HMGCL):c.751-11T>C
NM_000191.3(HMGCL):c.751-13C>G
NM_000191.3(HMGCL):c.751-15T>A
NM_000191.3(HMGCL):c.751-17C>T
NM_000191.3(HMGCL):c.751-4C>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.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.771C>T (p.Asp257=) rs1300668281
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.801C>T (p.Pro267=)
NM_000191.3(HMGCL):c.826T>C (p.Leu276=) rs2148416982
NM_000191.3(HMGCL):c.840C>T (p.Asp280=)
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.876+14C>A
NM_000191.3(HMGCL):c.876+17C>G
NM_000191.3(HMGCL):c.876+19del
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.877-11G>T
NM_000191.3(HMGCL):c.877-17T>C
NM_000191.3(HMGCL):c.877-17dup
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.909A>G (p.Gly303=)
NM_000191.3(HMGCL):c.915T>C (p.Phe305=)
NM_000191.3(HMGCL):c.918C>T (p.Ile306=) rs2148415804
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.960G>A (p.Gln320=)
NM_000191.3(HMGCL):c.966C>G (p.Thr322=)
NM_000191.3(HMGCL):c.969T>C (p.Cys323=) rs2148415747
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
NM_000282.4(PCCA):c.1020C>T (p.Asp340=) rs2152588978
NM_000282.4(PCCA):c.1026G>A (p.Lys342=) rs2152589052
NM_000282.4(PCCA):c.1042T>C (p.Leu348=) rs2152589147
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
NM_000282.4(PCCA):c.105+11A>G
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.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.106-5del
NM_000282.4(PCCA):c.106-9T>G
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
NM_000282.4(PCCA):c.1065+11C>T
NM_000282.4(PCCA):c.1065+18T>A rs1458093935
NM_000282.4(PCCA):c.1065+3AAC[2] rs1467232371
NM_000282.4(PCCA):c.1065+8C>T
NM_000282.4(PCCA):c.1066-10G>C rs1486164333
NM_000282.4(PCCA):c.1066-15A>G
NM_000282.4(PCCA):c.1066-4G>T
NM_000282.4(PCCA):c.1066-7C>G
NM_000282.4(PCCA):c.1066-8C>T
NM_000282.4(PCCA):c.1099C>T (p.Leu367=) rs1328083857
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
NM_000282.4(PCCA):c.1113G>A (p.Gln371=) rs2152683893
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
NM_000282.4(PCCA):c.1164T>C (p.Asp388=) rs2152684012
NM_000282.4(PCCA):c.1179C>A (p.Gly393=) rs1430193054
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
NM_000282.4(PCCA):c.1209+10A>G rs764226410
NM_000282.4(PCCA):c.1209+13G>C
NM_000282.4(PCCA):c.1209+14T>G
NM_000282.4(PCCA):c.1209+18G>A
NM_000282.4(PCCA):c.1209+18G>T
NM_000282.4(PCCA):c.1209+8G>C
NM_000282.4(PCCA):c.1210-14C>T
NM_000282.4(PCCA):c.1210-15C>T
NM_000282.4(PCCA):c.1210-16T>C
NM_000282.4(PCCA):c.1210-19C>T
NM_000282.4(PCCA):c.1210-4T>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.1215C>T (p.Pro405=)
NM_000282.4(PCCA):c.1221G>A (p.Lys407=) rs2152686094
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
NM_000282.4(PCCA):c.1249T>C (p.Leu417=) rs2066177786
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
NM_000282.4(PCCA):c.126A>G (p.Arg42=) rs763916930
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
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+7C>A
NM_000282.4(PCCA):c.1285-12_1285-8del rs2066517246
NM_000282.4(PCCA):c.1285-14T>C rs1374058554
NM_000282.4(PCCA):c.1285-7C>T rs748531448
NM_000282.4(PCCA):c.1285-7dup rs2066518077
NM_000282.4(PCCA):c.1285-9T>C
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
NM_000282.4(PCCA):c.1311A>T (p.Pro437=) rs2152692646
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+9_1353+13del
NM_000282.4(PCCA):c.1354-13T>C
NM_000282.4(PCCA):c.1354-14T>G
NM_000282.4(PCCA):c.1354-17T>G
NM_000282.4(PCCA):c.1354-20_1354-17del
NM_000282.4(PCCA):c.1354-8G>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.1365T>C (p.Tyr455=) rs1225545034
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
NM_000282.4(PCCA):c.1392G>A (p.Lys464=) rs2152697440
NM_000282.4(PCCA):c.1407A>T (p.Ala469=) rs2152697468
NM_000282.4(PCCA):c.1408C>T (p.Leu470=) rs1566911871
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
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.1429+10A>G
NM_000282.4(PCCA):c.1429+13A>T
NM_000282.4(PCCA):c.1429+13_1429+14del
NM_000282.4(PCCA):c.1429+15T>G
NM_000282.4(PCCA):c.1429+18C>T rs1445188783
NM_000282.4(PCCA):c.1429+20C>T rs2152697607
NM_000282.4(PCCA):c.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.1430-8A>T
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.1455T>C (p.Leu485=) rs752220238
NM_000282.4(PCCA):c.1458A>C (p.Arg486=) rs2152733872
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
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.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.1524T>C (p.Tyr508=) rs2152734002
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
NM_000282.4(PCCA):c.1540+13T>C rs2069419811
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.1541-20_1541-9del
NM_000282.4(PCCA):c.1541-5C>T
NM_000282.4(PCCA):c.1541-6C>T
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
NM_000282.4(PCCA):c.1590A>G (p.Ser530=) rs2152751916
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.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.1620A>G (p.Ala540=) rs1566960733
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+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.1671C>G (p.Ala557=) rs2075362375
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
NM_000282.4(PCCA):c.1695G>A (p.Leu565=) rs1595621243
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
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.1747-11T>C
NM_000282.4(PCCA):c.1747-12G>A
NM_000282.4(PCCA):c.1747-15T>G
NM_000282.4(PCCA):c.1747-18T>C
NM_000282.4(PCCA):c.1747-20C>T
NM_000282.4(PCCA):c.1747-6C>T
NM_000282.4(PCCA):c.1747-7A>G
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
NM_000282.4(PCCA):c.1773T>C (p.Asn591=) rs1595860527
NM_000282.4(PCCA):c.1791C>T (p.Asn597=) rs2079093623
NM_000282.4(PCCA):c.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.183+15G>T
NM_000282.4(PCCA):c.183+19T>C rs780105316
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.184-10C>G
NM_000282.4(PCCA):c.184-10C>T rs2048349934
NM_000282.4(PCCA):c.184-15T>G rs1257547578
NM_000282.4(PCCA):c.184-19G>A
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+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+20C>A
NM_000282.4(PCCA):c.1845+21del
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.1846-20A>G
NM_000282.4(PCCA):c.1846-6T>C
NM_000282.4(PCCA):c.1846-9_1846-6del
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
NM_000282.4(PCCA):c.1863A>C (p.Ala621=) rs937736837
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
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.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+21_1899+24del
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.1900-20G>T
NM_000282.4(PCCA):c.1900-7C>T
NM_000282.4(PCCA):c.1900-8C>T rs1480940423
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.1920C>T (p.Thr640=) rs2152998162
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
NM_000282.4(PCCA):c.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.1971C>T (p.Asp657=)
NM_000282.4(PCCA):c.1980T>C (p.Ser660=) rs751989323
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
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>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
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+20C>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.2041-16C>T
NM_000282.4(PCCA):c.2041-8T>C rs2153008293
NM_000282.4(PCCA):c.2043A>G (p.Val681=) rs745390236
NM_000282.4(PCCA):c.207T>C (p.Ala69=) rs2152278538
NM_000282.4(PCCA):c.2094T>C (p.Ser698=) rs2153008347
NM_000282.4(PCCA):c.2100A>G (p.Thr700=) rs141926030
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
NM_000282.4(PCCA):c.2118+12_2118+19dup
NM_000282.4(PCCA):c.2118+18C>T
NM_000282.4(PCCA):c.2118+7C>T
NM_000282.4(PCCA):c.2119-17A>G
NM_000282.4(PCCA):c.2119-19G>A rs1162118685
NM_000282.4(PCCA):c.2119-4C>T
NM_000282.4(PCCA):c.2124A>G (p.Lys708=) rs2153010943
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
NM_000282.4(PCCA):c.2133C>T (p.His711=)
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
NM_000282.4(PCCA):c.2167C>T (p.Leu723=) rs748808267
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
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+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.232-6A>T rs527249599
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.267A>G (p.Thr89=) rs2152279061
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.300+15G>A
NM_000282.4(PCCA):c.300+18T>C
NM_000282.4(PCCA):c.300+7A>G rs1241971231
NM_000282.4(PCCA):c.300+8T>G
NM_000282.4(PCCA):c.300+9A>G rs2152279171
NM_000282.4(PCCA):c.301-10G>A
NM_000282.4(PCCA):c.301-11T>C
NM_000282.4(PCCA):c.301-18A>G
NM_000282.4(PCCA):c.301-5C>T rs2152382806
NM_000282.4(PCCA):c.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.31C>T (p.Leu11=)
NM_000282.4(PCCA):c.33G>A (p.Leu11=) rs922002208
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
NM_000282.4(PCCA):c.366C>T (p.Leu122=) rs1228885494
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
NM_000282.4(PCCA):c.378C>T (p.Ala126=) rs2152382977
NM_000282.4(PCCA):c.396G>A (p.Lys132=) rs2152383018
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
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.415-10C>A
NM_000282.4(PCCA):c.415-13T>C
NM_000282.4(PCCA):c.415-4T>C rs2152387053
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.441A>G (p.Ser147=)
NM_000282.4(PCCA):c.459C>T (p.Ala153=) rs1358991180
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
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+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.474A>G (p.Ala158=)
NM_000282.4(PCCA):c.483C>G (p.Val161=)
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
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.576C>A (p.Ile192=)
NM_000282.4(PCCA):c.579T>G (p.Pro193=) rs2152478869
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.601-10G>A rs903647084
NM_000282.4(PCCA):c.601-12C>T
NM_000282.4(PCCA):c.601-18C>T
NM_000282.4(PCCA):c.601-4A>G
NM_000282.4(PCCA):c.601-6T>C
NM_000282.4(PCCA):c.601-9C>T rs775469263
NM_000282.4(PCCA):c.603T>C (p.Asp201=) rs773868428
NM_000282.4(PCCA):c.612A>G (p.Glu204=) rs1594860188
NM_000282.4(PCCA):c.630G>A (p.Arg210=) rs2152522233
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
NM_000282.4(PCCA):c.637+18C>T rs758676556
NM_000282.4(PCCA):c.637+9T>G rs2152522254
NM_000282.4(PCCA):c.638-5G>T rs764316702
NM_000282.4(PCCA):c.638-7C>T rs2152558252
NM_000282.4(PCCA):c.63G>A (p.Pro21=) rs2152189800
NM_000282.4(PCCA):c.645T>A (p.Pro215=) rs751840442
NM_000282.4(PCCA):c.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.696T>G (p.Ala232=) rs2152558384
NM_000282.4(PCCA):c.69G>A (p.Gln23=) rs1593997093
NM_000282.4(PCCA):c.6G>A (p.Ala2=) rs958365590
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
NM_000282.4(PCCA):c.716+16A>G
NM_000282.4(PCCA):c.716+20A>G
NM_000282.4(PCCA):c.717-15T>G
NM_000282.4(PCCA):c.717-19T>G
NM_000282.4(PCCA):c.717-5dup rs2062610539
NM_000282.4(PCCA):c.717-8T>G rs1367148068
NM_000282.4(PCCA):c.72G>A (p.Gln24=) rs2152189926
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
NM_000282.4(PCCA):c.747T>C (p.Ala249=) rs1594992384
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.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.780A>T (p.Ile260=) rs1451573276
NM_000282.4(PCCA):c.783A>G (p.Glu261=) rs917366865
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.807T>C (p.His269=) rs2152565006
NM_000282.4(PCCA):c.819+10T>C rs1280822128
NM_000282.4(PCCA):c.819+13_819+35del
NM_000282.4(PCCA):c.819+16A>T rs377356398
NM_000282.4(PCCA):c.819+19C>T
NM_000282.4(PCCA):c.819+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.820-8T>C
NM_000282.4(PCCA):c.820-9C>T rs1371297395
NM_000282.4(PCCA):c.847T>C (p.Leu283=) rs911990330
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
NM_000282.4(PCCA):c.873A>C (p.Ser291=)
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
NM_000282.4(PCCA):c.880A>C (p.Arg294=) rs2063109467
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.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+8T>A rs543352333
NM_000282.4(PCCA):c.914+9C>T
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.915-4G>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.91C>T (p.Leu31=) rs2152190063
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.930G>C (p.Ala310=) rs377248400
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.94C>A (p.Arg32=) rs2152190089
NM_000282.4(PCCA):c.954A>G (p.Glu318=) rs2152588516
NM_000282.4(PCCA):c.957A>G (p.Gln319=) rs756496977
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
NM_000282.4(PCCA):c.966T>G (p.Ala322=) rs2152588623
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.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_000532.5(PCCB):c.1002C>A (p.Pro334=) rs370304541
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.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.1044T>C (p.Asn348=)
NM_000532.5(PCCB):c.1047G>A (p.Gly349=) rs2108226680
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.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+7T>C rs2108226731
NM_000532.5(PCCB):c.1090+8G>A rs2108226738
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.1091-4C>T rs759283485
NM_000532.5(PCCB):c.1091-8C>T
NM_000532.5(PCCB):c.1091-9T>C
NM_000532.5(PCCB):c.1119A>G (p.Lys373=) rs2108237811
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
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.1164C>T (p.Leu388=)
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
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.1198+12A>G
NM_000532.5(PCCB):c.1198+13C>T
NM_000532.5(PCCB):c.1198+14A>G
NM_000532.5(PCCB):c.1198+17G>A
NM_000532.5(PCCB):c.1198+18T>G
NM_000532.5(PCCB):c.1198+18dup
NM_000532.5(PCCB):c.1198+19G>C
NM_000532.5(PCCB):c.1198+19G>T
NM_000532.5(PCCB):c.1199-15C>G
NM_000532.5(PCCB):c.1199-15C>T
NM_000532.5(PCCB):c.1199-17C>T
NM_000532.5(PCCB):c.1199-18dup rs2108238321
NM_000532.5(PCCB):c.1199-20T>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.1228C>A (p.Arg410=) rs121964959
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.1254A>G (p.Ala418=)
NM_000532.5(PCCB):c.1269T>A (p.Thr423=) rs2108238461
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
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.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+7A>T
NM_000532.5(PCCB):c.1299+9C>T
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
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.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.1350T>C (p.Asp450=) rs1935374974
NM_000532.5(PCCB):c.1356C>T (p.Asn452=) rs1455298516
NM_000532.5(PCCB):c.135C>A (p.Thr45=) rs1576397628
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
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.1395A>G (p.Ala465=)
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+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.1399-5C>G
NM_000532.5(PCCB):c.1399-8A>G
NM_000532.5(PCCB):c.13T>C (p.Leu5=) rs1559991921
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
NM_000532.5(PCCB):c.141G>A (p.Leu47=) rs1378807952
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
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.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.1482C>T (p.Phe494=) rs1179000221
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
NM_000532.5(PCCB):c.1498+10T>C rs777201996
NM_000532.5(PCCB):c.1498+12T>C
NM_000532.5(PCCB):c.1498+12_1498+13del rs770922237
NM_000532.5(PCCB):c.1498+14G>A
NM_000532.5(PCCB):c.1498+15T>C
NM_000532.5(PCCB):c.1498+8A>G rs2108240447
NM_000532.5(PCCB):c.1498+9C>T
NM_000532.5(PCCB):c.1499-10G>T
NM_000532.5(PCCB):c.1499-19C>T
NM_000532.5(PCCB):c.1499-4C>T
NM_000532.5(PCCB):c.1499-9C>T
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.1515C>T (p.Ile505=) rs2108241650
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
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.1542A>C (p.Arg514=) rs1337219671
NM_000532.5(PCCB):c.1564T>C (p.Leu522=) rs2108241717
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
NM_000532.5(PCCB):c.159C>T (p.Arg53=) rs776900764
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
NM_000532.5(PCCB):c.1611T>A (p.Ile537=) rs2108241808
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
NM_000532.5(PCCB):c.171G>T (p.Ala57=) rs1168077273
NM_000532.5(PCCB):c.174G>A (p.Gln58=) rs1576397701
NM_000532.5(PCCB):c.183+12G>A
NM_000532.5(PCCB):c.183+13G>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+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+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.184-5T>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.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.210C>T (p.Ile70=) rs1195573163
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.231C>G (p.Gly77=)
NM_000532.5(PCCB):c.231C>T (p.Gly77=) rs2108137338
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
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.27G>C (p.Ala9=) rs1402404407
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
NM_000532.5(PCCB):c.303+13A>C
NM_000532.5(PCCB):c.303+15G>A
NM_000532.5(PCCB):c.303+18G>A
NM_000532.5(PCCB):c.303+19_303+21del rs1338554743
NM_000532.5(PCCB):c.303+7G>A rs747794871
NM_000532.5(PCCB):c.304-10T>C
NM_000532.5(PCCB):c.304-13A>G
NM_000532.5(PCCB):c.304-14C>T
NM_000532.5(PCCB):c.304-20T>C
NM_000532.5(PCCB):c.304-20T>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.304-9T>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.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.336C>T (p.Gly112=)
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
NM_000532.5(PCCB):c.360T>C (p.Tyr120=) rs1198278808
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.373-17T>A
NM_000532.5(PCCB):c.373-5T>C
NM_000532.5(PCCB):c.373-8C>G
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
NM_000532.5(PCCB):c.384T>G (p.Val128=) rs1169839469
NM_000532.5(PCCB):c.387T>C (p.Phe129=) rs1576405957
NM_000532.5(PCCB):c.397C>T (p.Leu133=) rs1941791843
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
NM_000532.5(PCCB):c.414C>G (p.Ala138=) rs781142631
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
NM_000532.5(PCCB):c.423C>A (p.Ile141=) rs2108144487
NM_000532.5(PCCB):c.429+11A>C
NM_000532.5(PCCB):c.429+15C>T
NM_000532.5(PCCB):c.429+17C>A
NM_000532.5(PCCB):c.429+17C>T
NM_000532.5(PCCB):c.429+20A>G rs1282306131
NM_000532.5(PCCB):c.429+20A>T
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.430-14C>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.430-9C>T
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
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.459T>A (p.Ala153=) rs2108146658
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
NM_000532.5(PCCB):c.471G>T (p.Gly157=) rs2108146680
NM_000532.5(PCCB):c.474G>A (p.Leu158=) rs2108146690
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
NM_000532.5(PCCB):c.49C>T (p.Leu17=) rs200185747
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.528T>C (p.Tyr176=) rs2108146812
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
NM_000532.5(PCCB):c.541C>T (p.Leu181=) rs991870747
NM_000532.5(PCCB):c.543+10C>G rs2108146841
NM_000532.5(PCCB):c.543+11T>C
NM_000532.5(PCCB):c.543+17T>G
NM_000532.5(PCCB):c.543+19G>C
NM_000532.5(PCCB):c.543+8A>G
NM_000532.5(PCCB):c.544-10G>C
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
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.594C>G (p.Gly198=) rs1933215700
NM_000532.5(PCCB):c.597A>C (p.Pro199=) rs773799305
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
NM_000532.5(PCCB):c.612C>T (p.Ala204=) rs201054265
NM_000532.5(PCCB):c.642G>T (p.Thr214=) rs148056730
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+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.655-7del
NM_000532.5(PCCB):c.655-8T>C
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.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.711G>A (p.Glu237=)
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.750C>T (p.His250=) rs1255224715
NM_000532.5(PCCB):c.753C>T (p.Thr251=) rs2108197383
NM_000532.5(PCCB):c.763+12dup
NM_000532.5(PCCB):c.763+16G>A
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.764-10G>A
NM_000532.5(PCCB):c.764-10G>C rs372617301
NM_000532.5(PCCB):c.764-11del
NM_000532.5(PCCB):c.764-16C>T
NM_000532.5(PCCB):c.764-17G>T
NM_000532.5(PCCB):c.764-18T>G
NM_000532.5(PCCB):c.764-5C>A rs1934010592
NM_000532.5(PCCB):c.764-7C>A
NM_000532.5(PCCB):c.764-7C>T
NM_000532.5(PCCB):c.765T>C (p.Gly255=) rs2108202688
NM_000532.5(PCCB):c.768G>A (p.Val256=) rs2108202690
NM_000532.5(PCCB):c.774C>T (p.His258=) rs141615209
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.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.828C>T (p.Asn276=)
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
NM_000532.5(PCCB):c.840G>A (p.Leu280=) rs1934015229
NM_000532.5(PCCB):c.852C>T (p.Asp284=) rs1298793935
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.876C>T (p.His292=) rs776893713
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+8G>A rs187345727
NM_000532.5(PCCB):c.884+8G>T rs187345727
NM_000532.5(PCCB):c.885-17C>G
NM_000532.5(PCCB):c.885-18C>T rs1482092717
NM_000532.5(PCCB):c.885-6C>T
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
NM_000532.5(PCCB):c.894G>A (p.Leu298=) rs746964439
NM_000532.5(PCCB):c.912A>G (p.Thr304=) rs778118663
NM_000532.5(PCCB):c.933C>G (p.Thr311=) rs776005016
NM_000532.5(PCCB):c.951G>A (p.Val317=) rs1366112071
NM_000532.5(PCCB):c.957C>T (p.Ile319=) rs868483670
NM_000532.5(PCCB):c.963C>T (p.His321=) rs754807564
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+20G>T
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.967-4G>T rs2108226511
NM_000532.5(PCCB):c.967-5T>G rs1934917985
NM_000532.5(PCCB):c.967-7C>T
NM_000532.5(PCCB):c.967-8dup
NM_000532.5(PCCB):c.96C>A (p.Ala32=) rs2108127912
NM_000532.5(PCCB):c.96C>T (p.Ala32=) rs2108127912
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
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_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=) rs1389252296
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.1053G>A (p.Leu351=) rs1567702985
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) rs374451559
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.1107C>G (p.Thr369=) rs750959933
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=) rs2151454775
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=) rs2151454814
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)
NM_001243279.3(ACSF3):c.1126+10C>T rs2151454938
NM_001243279.3(ACSF3):c.1126+18A>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.1127-4G>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.1144C>T (p.Leu382=)
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=)
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=) rs2151478873
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=) rs2151405382
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=) rs1378994162
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=) rs371890371
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=)
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=) rs1906478952
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) rs1047268029
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=) rs781247397
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=) rs2151479090
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=) rs2151479113
NM_001243279.3(ACSF3):c.1239+10T>C rs2151479176
NM_001243279.3(ACSF3):c.1239+11C>A
NM_001243279.3(ACSF3):c.1239+11C>G
NM_001243279.3(ACSF3):c.1239+13G>A
NM_001243279.3(ACSF3):c.1239+14C>T
NM_001243279.3(ACSF3):c.1239+19G>A
NM_001243279.3(ACSF3):c.1239+20G>C
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.1240-20A>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.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.1293C>T (p.Ser431=) rs1237151757
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=) rs2151521008
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=) rs375414491
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=) rs998246075
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=) rs1444580425
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=) rs2151521187
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+9C>G rs2151521275
NM_001243279.3(ACSF3):c.1366+9C>T rs2151521275
NM_001243279.3(ACSF3):c.1367-11C>T
NM_001243279.3(ACSF3):c.1367-13C>T
NM_001243279.3(ACSF3):c.1367-15G>T
NM_001243279.3(ACSF3):c.1367-36_1367-7del rs2151562216
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.1380G>T (p.Val460=) rs554032555
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) rs1597887201
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=) rs200661983
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=) rs1451312853
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=) rs1912703262
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=) rs1912704218
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=)
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=)
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=)
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=) rs2151405540
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=) rs2151562576
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=) rs2151562625
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=)
NM_001243279.3(ACSF3):c.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.1467G>A (p.Val489=) rs115776284
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) rs1348371629
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=) rs2151405575
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=)
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=) rs2151562831
NM_001243279.3(ACSF3):c.1501+12G>A
NM_001243279.3(ACSF3):c.1501+18G>A
NM_001243279.3(ACSF3):c.1501+20C>T
NM_001243279.3(ACSF3):c.1502-13C>T
NM_001243279.3(ACSF3):c.1502-20A>G
NM_001243279.3(ACSF3):c.1502-6C>A
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=)
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=)
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=)
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=) rs1012271385
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=) rs746953848
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=)
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=)
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=)
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)
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.1611C>T (p.Ala537=)
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+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.1614-7T>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.1629G>T (p.Pro543=) rs146779456
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=)
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=)
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=)
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=)
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) rs1597281839
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=)
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=)
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=) rs1245847525
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=) rs767036317
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=) rs2151586215
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.1716C>T (p.His572=)
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=) rs1914461577
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.192C>T (p.Gly64=)
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=) rs1405537973
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=) rs1975219207
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=)
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=) rs2151406106
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)
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.27C>T (p.Phe9=)
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=) rs2151406487
NM_001243279.3(ACSF3):c.294C>T (p.Val98=)
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=) rs59213357
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=)
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=) rs1267933456
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) rs6500527
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=) rs1446396475
NM_001243279.3(ACSF3):c.363G>A (p.Val121=)
NM_001243279.3(ACSF3):c.369C>G (p.Val123=) rs6500529
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
NM_001243279.3(ACSF3):c.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.423C>G (p.Ser141=)
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.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.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.486G>A (p.Lys162=) rs2151408219
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=)
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=) rs748625786
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=) rs1403364770
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=) rs7201122
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=) rs866824182
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.558G>C (p.Pro186=)
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.582C>T (p.Asn194=)
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=) rs2151409119
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=) rs1259550164
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=)
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=)
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=) rs1555560476
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) rs753012038
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=) rs772996642
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)
NM_001243279.3(ACSF3):c.666+10G>A rs752914229
NM_001243279.3(ACSF3):c.666+10G>C
NM_001243279.3(ACSF3):c.666+10G>T
NM_001243279.3(ACSF3):c.666+12C>T
NM_001243279.3(ACSF3):c.666+16C>T
NM_001243279.3(ACSF3):c.666+17G>A
NM_001243279.3(ACSF3):c.666+19C>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.667-4G>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.693A>G (p.Ala231=)
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=)
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.747T>C (p.Gly249=) rs1419853894
NM_001243279.3(ACSF3):c.750G>T (p.Val250=) rs1045898328
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.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.79A>C (p.Arg27=)
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=)
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.823-18G>T
NM_001243279.3(ACSF3):c.823-19T>C
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.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.846T>C (p.Ser282=) rs1597942772
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=)
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.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.885A>G (p.Thr295=)
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=) rs2151444809
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=) rs1976764124
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=)
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=) rs770510501
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=) rs1165098721
NM_001243279.3(ACSF3):c.977+18A>G
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.978-6G>T rs377217672
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_001258392.3(CLPB):c.1033C>T (p.Leu345=) rs1949786030
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=) rs1949785389
NM_001258392.3(CLPB):c.1066+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.1067-9T>C rs372848873
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.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.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1167+10G>A
NM_001258392.3(CLPB):c.1167+9T>C
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) rs1949536469
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
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.1548C>T (p.Arg516=)
NM_001258392.3(CLPB):c.1560+19C>T
NM_001258392.3(CLPB):c.1561-12C>G
NM_001258392.3(CLPB):c.1561-18_1561-12del rs1166987571
NM_001258392.3(CLPB):c.1561-20C>T
NM_001258392.3(CLPB):c.1561-7C>T
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=) rs1949510719
NM_001258392.3(CLPB):c.1680+9G>A
NM_001258392.3(CLPB):c.1681-17T>C
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
NM_001258392.3(CLPB):c.1785+13G>A
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=) rs776395544
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=) rs2135483654
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=) rs2135483266
NM_001258392.3(CLPB):c.213G>A (p.Gly71=) rs1856645490
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=) rs1856631048
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+7_403+8del rs754849241
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.447A>G (p.Glu149=) rs1856508277
NM_001258392.3(CLPB):c.450C>A (p.Val150=) rs2135168122
NM_001258392.3(CLPB):c.513C>G (p.Leu171=) rs1017640223
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
NM_001258392.3(CLPB):c.528C>A (p.Ile176=) rs766521266
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.555C>T (p.Val185=) rs770534948
NM_001258392.3(CLPB):c.646+14G>C
NM_001258392.3(CLPB):c.646+7247C>T
NM_001258392.3(CLPB):c.646+7257G>A
NM_001258392.3(CLPB):c.646+7367del
NM_001258392.3(CLPB):c.646+7369C>T
NM_001258392.3(CLPB):c.646+7372T>C
NM_001258392.3(CLPB):c.646+7375A>G
NM_001258392.3(CLPB):c.646+7G>A rs1854866433
NM_001258392.3(CLPB):c.647-10G>A rs2135614152
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
NM_001258392.3(CLPB):c.775+14T>C
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.795G>A (p.Arg265=)
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
NM_001258392.3(CLPB):c.837G>A (p.Gly279=) rs2135549683
NM_001258392.3(CLPB):c.843G>A (p.Val281=) rs2135549653
NM_001258392.3(CLPB):c.874-10C>G
NM_001258392.3(CLPB):c.874-7C>G
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
NM_001258392.3(CLPB):c.988+14A>T rs2135527417
NM_001258392.3(CLPB):c.988+16A>G
NM_001258392.3(CLPB):c.989-4G>A
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_001352514.2(HLCS):c.1011G>A (p.Val337=)
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=) rs2066910824
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=) rs765699943
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.1084C>T (p.Leu362=) rs1459880908
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.1126C>T (p.Leu376=) rs1450990152
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=) rs1199413324
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.1161A>G (p.Gly387=)
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.1218C>T (p.Ser406=)
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
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.1257C>T (p.Phe419=) rs757706257
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=) rs2146524449
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=) rs2146524399
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=) rs2146524204
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=) rs2066890502
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
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.1356C>T (p.Gly452=) rs756934917
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.1413C>A (p.Arg471=) rs533602689
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
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+20T>A
NM_001352514.2(HLCS):c.1437+8G>A rs777565665
NM_001352514.2(HLCS):c.1438-17C>T
NM_001352514.2(HLCS):c.1438-6C>T
NM_001352514.2(HLCS):c.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.1467C>T (p.Asn489=)
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.1509C>T (p.Ser503=)
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.1581T>G (p.Val527=)
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
NM_001352514.2(HLCS):c.1620+15C>G
NM_001352514.2(HLCS):c.1620+17G>A
NM_001352514.2(HLCS):c.1620+7T>G
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.1621-19T>A
NM_001352514.2(HLCS):c.1621-8T>C
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=) rs2146336527
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=) rs1344897387
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=) rs2146336458
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=) rs2146336432
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=) rs1366041798
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.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.1698T>G (p.Ser566=) rs2146335962
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=) rs2146335640
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=) rs771694153
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.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.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.1857C>T (p.Ala619=) rs759178651
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.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+8G>T rs2065029914
NM_001352514.2(HLCS):c.1893-11C>G
NM_001352514.2(HLCS):c.1893-14C>T
NM_001352514.2(HLCS):c.1893-22_1893-14dup
NM_001352514.2(HLCS):c.1893-5G>C
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=) rs370347318
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.1956C>A (p.Gly652=)
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.1962A>G (p.Gly654=) rs757169763
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
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.2037C>A (p.Ser679=) rs2145768209
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=) rs2145768179
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.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.2088C>A (p.Val696=)
NM_001352514.2(HLCS):c.2091G>A (p.Val697=) rs773627772
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.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.2134C>A (p.Arg712=)
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=) rs375456567
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
NM_001352514.2(HLCS):c.2190T>C (p.Val730=) rs2089756578
NM_001352514.2(HLCS):c.2196T>A (p.Val732=) rs2145744309
NM_001352514.2(HLCS):c.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.2220A>G (p.Thr740=) rs2145744147
NM_001352514.2(HLCS):c.2236+13A>T
NM_001352514.2(HLCS):c.2236+16C>T
NM_001352514.2(HLCS):c.2236+17T>C
NM_001352514.2(HLCS):c.2236+20C>A
NM_001352514.2(HLCS):c.2237-19A>G
NM_001352514.2(HLCS):c.2237-6G>A rs201208730
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=) rs2145732165
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=) rs760492059
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=) rs2145731986
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
NM_001352514.2(HLCS):c.2313C>T (p.His771=) rs1376040224
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=) rs2123576595
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=) rs2123576546
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=) rs747302103
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=) rs2123575791
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=) rs2123575709
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=) rs763530346
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=) rs2089605319
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=) rs766430268
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=) rs762915830
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=) rs762915830
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
NM_001352514.2(HLCS):c.2450+20C>T rs2123574898
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.2451-8C>T rs373177254
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=) rs2123556668
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=) rs2089478015
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=) rs2123556491
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
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.2565C>T (p.His855=)
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
NM_001352514.2(HLCS):c.471A>C (p.Gly157=) rs2146535946
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.494-17T>A
NM_001352514.2(HLCS):c.494-25TC[3]
NM_001352514.2(HLCS):c.494-25TC[6] rs146532042
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.504G>A (p.Leu168=) rs2066944309
NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
NM_001352514.2(HLCS):c.516T>C (p.Thr172=) rs752570659
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
NM_001352514.2(HLCS):c.537G>A (p.Gln179=) rs2146529501
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.570G>T (p.Pro190=)
NM_001352514.2(HLCS):c.579A>G (p.Glu193=) rs2146529125
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
NM_001352514.2(HLCS):c.600T>C (p.Pro200=) rs2066937541
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
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.702G>A (p.Gly234=) rs373193883
NM_001352514.2(HLCS):c.711C>T (p.Asp237=) rs754558925
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys) rs765150200
NM_001352514.2(HLCS):c.741C>T (p.His247=) rs761937078
NM_001352514.2(HLCS):c.759C>T (p.Cys253=) rs751148714
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
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.804G>A (p.Lys268=) rs1228716242
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
NM_001352514.2(HLCS):c.816C>G (p.Ala272=) rs376665169
NM_001352514.2(HLCS):c.828A>G (p.Pro276=) rs2066924267
NM_001352514.2(HLCS):c.834T>C (p.Leu278=) rs2146527642
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
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.915G>A (p.Thr305=) rs1000269533
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
NM_001352514.2(HLCS):c.933C>T (p.Ile311=) rs1057523220
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
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.951C>G (p.Ser317=) rs185480832
NM_001352514.2(HLCS):c.963A>G (p.Glu321=) rs767893846
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
NM_001352514.2(HLCS):c.990G>A (p.Arg330=) rs771741236
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
NM_001352514.2(HLCS):c.997C>T (p.Leu333=) rs1245601073
NM_001352514.2(HLCS):c.999G>T (p.Leu333=) rs1324605554
NM_001370658.1(BTD):c.-16-19T>C
NM_001370658.1(BTD):c.-16-5T>C
NM_001370658.1(BTD):c.-16-7A>G
NM_001370658.1(BTD):c.-16-7A>T
NM_001370658.1(BTD):c.-16-7del
NM_001370658.1(BTD):c.-17+12_-17+27dup
NM_001370658.1(BTD):c.-17+16G>A
NM_001370658.1(BTD):c.-17+16G>C
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.-1T>C
NM_001370658.1(BTD):c.-28C>T rs2125312689
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
NM_001370658.1(BTD):c.1026A>G (p.Leu342=) rs1367244547
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.1068G>A (p.Gln356=) rs891263072
NM_001370658.1(BTD):c.1077C>T (p.His359=)
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.1104G>T (p.Val368=) rs750109648
NM_001370658.1(BTD):c.1110T>C (p.Ala370=) rs1473669802
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.1164C>G (p.Val388=)
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
NM_001370658.1(BTD):c.1170A>C (p.Gly390=) rs975896326
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=) rs368320941
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
NM_001370658.1(BTD):c.1203C>T (p.Gly401=) rs2125504914
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
NM_001370658.1(BTD):c.1236C>T (p.Thr412=) rs1575030932
NM_001370658.1(BTD):c.1248G>A (p.Glu416=) rs1208591351
NM_001370658.1(BTD):c.1251G>C (p.Leu417=) rs771116095
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
NM_001370658.1(BTD):c.1275G>T (p.Gly425=) rs2065662696
NM_001370658.1(BTD):c.129T>C (p.Tyr43=) rs2125453999
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
NM_001370658.1(BTD):c.1396C>T (p.Leu466=) rs2125506331
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
NM_001370658.1(BTD):c.1419C>G (p.Ser473=) rs1269007233
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
NM_001370658.1(BTD):c.1515G>A (p.Arg505=) rs2125507062
NM_001370658.1(BTD):c.1527G>A (p.Gly509=) rs1388523400
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
NM_001370658.1(BTD):c.204G>A (p.Gln68=) rs781457122
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
NM_001370658.1(BTD):c.225G>A (p.Gln75=) rs1423985186
NM_001370658.1(BTD):c.249+19A>C
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.267G>T (p.Val89=) rs2125485561
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
NM_001370658.1(BTD):c.339G>T (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.345C>T (p.Pro115=) rs767937184
NM_001370658.1(BTD):c.357G>A (p.Arg119=) rs2125486415
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
NM_001370658.1(BTD):c.399+10G>A
NM_001370658.1(BTD):c.399+19C>T
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.400-16C>T
NM_001370658.1(BTD):c.400-18C>T
NM_001370658.1(BTD):c.400-6C>T rs2125499988
NM_001370658.1(BTD):c.400-7C>T
NM_001370658.1(BTD):c.400-8T>C rs758512428
NM_001370658.1(BTD):c.402G>A (p.Val134=) rs1003151133
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
NM_001370658.1(BTD):c.417T>C (p.Ser139=) rs2125500181
NM_001370658.1(BTD):c.429C>T (p.Ile143=) rs2065628963
NM_001370658.1(BTD):c.435A>T (p.Gly145=) rs2125500346
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
NM_001370658.1(BTD):c.525C>T (p.Asn175=) rs2125500784
NM_001370658.1(BTD):c.534C>G (p.Val178=) rs757159632
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
NM_001370658.1(BTD):c.672A>G (p.Thr224=) rs777224767
NM_001370658.1(BTD):c.687G>A (p.Leu229=) rs2125501752
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
NM_001370658.1(BTD):c.711C>T (p.Val237=)
NM_001370658.1(BTD):c.714C>T (p.Leu238=) rs2125501926
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
NM_001370658.1(BTD):c.762C>T (p.Asn254=) rs2065642615
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
NM_001370658.1(BTD):c.81G>A (p.Glu27=) rs530566306
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.867A>G (p.Thr289=)
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
NM_001370658.1(BTD):c.894G>A (p.Glu298=) rs2125502955
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
NM_001370658.1(BTD):c.963A>T (p.Pro321=) rs1313683563
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.99C>T (p.His33=) rs397514337
NM_001609.4(ACADSB):c.1008G>A (p.Val336=) rs1240421187
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
NM_001609.4(ACADSB):c.1228+7A>G
NM_001609.4(ACADSB):c.159C>T (p.Pro53=) rs1370145865
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
NM_001609.4(ACADSB):c.511-8A>G
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
NM_001609.4(ACADSB):c.808-18G>A
NM_001609.4(ACADSB):c.900+7C>G rs2133484739
NM_001609.4(ACADSB):c.901-11T>G
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)
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.174C>T (p.Ala58=)
NM_001698.3(AUH):c.231G>C (p.Leu77=)
NM_001698.3(AUH):c.262+10G>A
NM_001698.3(AUH):c.263-10C>T
NM_001698.3(AUH):c.263-15T>C rs1341392485
NM_001698.3(AUH):c.331-12A>G
NM_001698.3(AUH):c.331-14C>T
NM_001698.3(AUH):c.342T>C (p.Ala114=)
NM_001698.3(AUH):c.498C>T (p.Asn166=)
NM_001698.3(AUH):c.505+18C>G
NM_001698.3(AUH):c.505+7A>G
NM_001698.3(AUH):c.506-6T>C
NM_001698.3(AUH):c.506-8C>T
NM_001698.3(AUH):c.546C>T (p.Leu182=)
NM_001698.3(AUH):c.573T>A (p.Ala191=)
NM_001698.3(AUH):c.598+11A>T rs1406913489
NM_001698.3(AUH):c.598+9_598+12del rs749186187
NM_001698.3(AUH):c.599-7G>A
NM_001698.3(AUH):c.655+11T>A
NM_001698.3(AUH):c.656-17T>G
NM_001698.3(AUH):c.66G>C (p.Leu22=)
NM_001698.3(AUH):c.714C>T (p.Phe238=) rs1173204062
NM_001698.3(AUH):c.738A>G (p.Lys246=)
NM_001698.3(AUH):c.768C>T (p.His256=)
NM_001698.3(AUH):c.804C>T (p.Tyr268=) rs775342115
NM_001698.3(AUH):c.825G>A (p.Ala275=)
NM_001698.3(AUH):c.894+14dup rs2131194109
NM_001698.3(AUH):c.894+19G>C rs377735590
NM_001698.3(AUH):c.897C>T (p.Val299=)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_001698.3(AUH):c.943-16A>G
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.96G>A (p.Pro32=)
NM_001698.3(AUH):c.996G>A (p.Arg332=)
NM_002225.5(IVD):c.-4A>G rs2141288785
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1023C>T (p.Tyr341=) rs2141360315
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.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.1066-18C>G
NM_002225.5(IVD):c.1066-18C>T
NM_002225.5(IVD):c.1066-19C>T
NM_002225.5(IVD):c.1066-4G>T
NM_002225.5(IVD):c.1080G>T (p.Val360=)
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.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.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.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.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.1167C>T (p.Pro389=) rs2141373519
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
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.1242C>A (p.Ile414=)
NM_002225.5(IVD):c.1242C>T (p.Ile414=) rs756694379
NM_002225.5(IVD):c.124C>T (p.Leu42=)
NM_002225.5(IVD):c.126A>C (p.Leu42=)
NM_002225.5(IVD):c.126A>G (p.Leu42=)
NM_002225.5(IVD):c.12G>C (p.Ala4=)
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+20del
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.145-10C>T rs1451681639
NM_002225.5(IVD):c.145-14C>T
NM_002225.5(IVD):c.145-19T>C
NM_002225.5(IVD):c.145-7C>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.156C>G (p.Thr52=) rs2141301442
NM_002225.5(IVD):c.15T>C (p.Thr5=) rs2141289023
NM_002225.5(IVD):c.162T>C (p.Ala54=)
NM_002225.5(IVD):c.174G>A (p.Gln58=) rs2141301579
NM_002225.5(IVD):c.177G>A (p.Glu59=)
NM_002225.5(IVD):c.181C>T (p.Leu61=)
NM_002225.5(IVD):c.195C>T (p.Ala65=) rs764288165
NM_002225.5(IVD):c.204C>A (p.Ile68=)
NM_002225.5(IVD):c.225G>A (p.Lys75=) rs1018215813
NM_002225.5(IVD):c.232C>A (p.Arg78=)
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.235-20C>T
NM_002225.5(IVD):c.235-5G>C
NM_002225.5(IVD):c.255G>A (p.Gly85=) rs778593528
NM_002225.5(IVD):c.264C>A (p.Gly88=) rs377199313
NM_002225.5(IVD):c.264C>G (p.Gly88=)
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.286+14C>G
NM_002225.5(IVD):c.286+16_286+17del rs775497134
NM_002225.5(IVD):c.286+18C>G
NM_002225.5(IVD):c.286+18C>T
NM_002225.5(IVD):c.286+3_286+6dup
NM_002225.5(IVD):c.287-10C>T
NM_002225.5(IVD):c.287-11A>G
NM_002225.5(IVD):c.287-12C>T
NM_002225.5(IVD):c.287-14C>G
NM_002225.5(IVD):c.287-18G>T
NM_002225.5(IVD):c.287-19T>G
NM_002225.5(IVD):c.294T>C (p.Tyr98=) rs2141322944
NM_002225.5(IVD):c.297C>A (p.Gly99=) rs377129112
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.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.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.378C>T (p.Tyr126=) rs1360239245
NM_002225.5(IVD):c.381T>C (p.Gly127=) rs2141323846
NM_002225.5(IVD):c.384C>A (p.Ala128=) rs2141323906
NM_002225.5(IVD):c.387C>T (p.His129=)
NM_002225.5(IVD):c.402C>T (p.Ile134=)
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.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.444G>A (p.Lys148=) rs768172531
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
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.457-12T>C
NM_002225.5(IVD):c.457-16G>A
NM_002225.5(IVD):c.457-19T>C
NM_002225.5(IVD):c.457-20G>A
NM_002225.5(IVD):c.457-20G>T
NM_002225.5(IVD):c.457-4G>A rs2141328194
NM_002225.5(IVD):c.457-7C>T rs2141328172
NM_002225.5(IVD):c.459G>C (p.Leu153=) rs372974651
NM_002225.5(IVD):c.462C>A (p.Ile154=)
NM_002225.5(IVD):c.468T>A (p.Gly156=)
NM_002225.5(IVD):c.489C>T (p.Ala163=)
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.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.522C>G (p.Val174=)
NM_002225.5(IVD):c.525T>C (p.Ser175=)
NM_002225.5(IVD):c.531G>A (p.Lys177=) rs1891059665
NM_002225.5(IVD):c.550+10C>G rs762786940
NM_002225.5(IVD):c.550+10C>T rs762786940
NM_002225.5(IVD):c.550+17C>T
NM_002225.5(IVD):c.550+18T>G
NM_002225.5(IVD):c.550+19T>G
NM_002225.5(IVD):c.551-17C>T
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.588C>T (p.Ile196=) rs2141331170
NM_002225.5(IVD):c.591T>C (p.Thr197=)
NM_002225.5(IVD):c.612C>T (p.Val204=)
NM_002225.5(IVD):c.613C>T (p.Leu205=) rs1891095620
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.633A>C (p.Thr211=)
NM_002225.5(IVD):c.639G>C (p.Leu213=) rs2141331622
NM_002225.5(IVD):c.642T>G (p.Ala214=) rs2141331657
NM_002225.5(IVD):c.66C>G (p.Ala22=) rs2141289538
NM_002225.5(IVD):c.66C>T (p.Ala22=)
NM_002225.5(IVD):c.681G>A (p.Val227=)
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.688-19C>T
NM_002225.5(IVD):c.688-6G>A rs770402490
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.717G>A (p.Lys239=)
NM_002225.5(IVD):c.720G>A (p.Leu240=) rs2141340085
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.750C>T (p.Thr250=) rs2141340373
NM_002225.5(IVD):c.762C>A (p.Ile254=)
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.785-7C>T rs2141351235
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.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.840G>A (p.Leu280=) rs2141351717
NM_002225.5(IVD):c.844C>T (p.Leu282=)
NM_002225.5(IVD):c.846G>A (p.Leu282=)
NM_002225.5(IVD):c.84G>C (p.Arg28=)
NM_002225.5(IVD):c.864C>G (p.Ala288=)
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.878+15C>G
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.882C>G (p.Leu294=)
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.921C>T (p.His307=) rs1304408183
NM_002225.5(IVD):c.930A>G (p.Glu310=) rs1209121749
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.960+7C>A
NM_002225.5(IVD):c.961-13C>A
NM_002225.5(IVD):c.961-16A>G
NM_002225.5(IVD):c.961-20T>C
NM_002225.5(IVD):c.961-5C>T
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
NM_002225.5(IVD):c.99G>A (p.Leu33=)
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.1043G>T (p.Arg348Leu) rs147100216
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
NM_005050.4(ABCD4):c.1119-20C>T
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met) rs200761248
NM_005050.4(ABCD4):c.1327+9C>A
NM_005050.4(ABCD4):c.1328-18T>C
NM_005050.4(ABCD4):c.1328-19G>A rs376137295
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
NM_005050.4(ABCD4):c.1419+15G>A
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
NM_005050.4(ABCD4):c.1456+9G>T
NM_005050.4(ABCD4):c.1457-18G>A
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
NM_005050.4(ABCD4):c.1507-4A>G
NM_005050.4(ABCD4):c.1559+13C>T
NM_005050.4(ABCD4):c.1559+16G>A
NM_005050.4(ABCD4):c.158-14C>T
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
NM_005050.4(ABCD4):c.1637-15G>T rs2079892790
NM_005050.4(ABCD4):c.1637-6C>G
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
NM_005050.4(ABCD4):c.286-10C>G
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
NM_005050.4(ABCD4):c.38+16G>A
NM_005050.4(ABCD4):c.38+18G>A
NM_005050.4(ABCD4):c.39-19C>T
NM_005050.4(ABCD4):c.426-11A>G rs2140018313
NM_005050.4(ABCD4):c.426-4C>G rs765378243
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
NM_005050.4(ABCD4):c.542+20C>G rs2140013486
NM_005050.4(ABCD4):c.543-11C>G
NM_005050.4(ABCD4):c.543-17CT[3]
NM_005050.4(ABCD4):c.543-17CT[4]
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
NM_005050.4(ABCD4):c.57A>G (p.Gln19=) rs574817590
NM_005050.4(ABCD4):c.669-6G>A
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
NM_005050.4(ABCD4):c.814+13G>A
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
NM_005050.4(ABCD4):c.936+20A>C
NM_005050.4(ABCD4):c.936+20A>G
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
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.1038C>G (p.Ala346=)
NM_005334.3(HCFC1):c.1084+18G>A
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1084+20C>T
NM_005334.3(HCFC1):c.1084+7C>A
NM_005334.3(HCFC1):c.1084+9G>A rs1557116426
NM_005334.3(HCFC1):c.1085-12G>C
NM_005334.3(HCFC1):c.1085-12G>T
NM_005334.3(HCFC1):c.1085-17A>G
NM_005334.3(HCFC1):c.1085-20C>T
NM_005334.3(HCFC1):c.1085-6C>T
NM_005334.3(HCFC1):c.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.1137C>T (p.Ser379=)
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
NM_005334.3(HCFC1):c.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.1347C>G (p.Pro449=)
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
NM_005334.3(HCFC1):c.1444+10G>A
NM_005334.3(HCFC1):c.1444+14C>T
NM_005334.3(HCFC1):c.1444+18G>A
NM_005334.3(HCFC1):c.1445-11T>C
NM_005334.3(HCFC1):c.1445-17G>T
NM_005334.3(HCFC1):c.1445-20C>G
NM_005334.3(HCFC1):c.1445-7T>C
NM_005334.3(HCFC1):c.1445-8C>G
NM_005334.3(HCFC1):c.1445-8C>T
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
NM_005334.3(HCFC1):c.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.1659C>A (p.Ala553=)
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
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.1767C>T (p.Leu589=)
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
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.1860G>A (p.Ser620=)
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
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.194-19G>C
NM_005334.3(HCFC1):c.194-20T>C
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
NM_005334.3(HCFC1):c.2028+17G>A
NM_005334.3(HCFC1):c.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.2127C>T (p.Ile709=)
NM_005334.3(HCFC1):c.2133+10C>T
NM_005334.3(HCFC1):c.2133+11dup
NM_005334.3(HCFC1):c.2133+20A>C
NM_005334.3(HCFC1):c.2134-14C>T
NM_005334.3(HCFC1):c.2134-18C>T
NM_005334.3(HCFC1):c.2134-20C>T
NM_005334.3(HCFC1):c.2134-9C>T
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
NM_005334.3(HCFC1):c.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.2235G>A (p.Gly745=)
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
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.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.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.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+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.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.2586C>T (p.Val862=)
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
NM_005334.3(HCFC1):c.2635+10C>T
NM_005334.3(HCFC1):c.2635+12T>A
NM_005334.3(HCFC1):c.2635+15G>A
NM_005334.3(HCFC1):c.2635+9C>T
NM_005334.3(HCFC1):c.2636-10T>A
NM_005334.3(HCFC1):c.2636-14C>T
NM_005334.3(HCFC1):c.2636-15C>A
NM_005334.3(HCFC1):c.2636-18T>A
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
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.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.2736C>T (p.Thr912=)
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
NM_005334.3(HCFC1):c.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.2856+17G>A
NM_005334.3(HCFC1):c.2856+8A>G
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
NM_005334.3(HCFC1):c.2857-18C>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.2898T>C (p.Pro966=)
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=) rs944235194
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
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.3330G>A (p.Glu1110=)
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
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.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.345G>A (p.Ala115=)
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
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.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.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.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>T (p.Arg1253Leu)
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
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.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.4138G>A (p.Ala1380Thr)
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
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.4215C>T (p.Thr1405=)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=) rs2148568710
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
NM_005334.3(HCFC1):c.4333+9A>G
NM_005334.3(HCFC1):c.4334-10_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.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.4390G>A (p.Val1464Met)
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
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.4482G>A (p.Pro1494=)
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
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.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.4533C>T (p.Arg1511=)
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.4593C>T (p.Ser1531=)
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
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.4639G>A (p.Val1547Met)
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
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.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.4734A>G (p.Thr1578=)
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=) rs1557112897
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.4950C>T (p.Gly1650=)
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
NM_005334.3(HCFC1):c.503+10G>A
NM_005334.3(HCFC1):c.503+8T>G
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
NM_005334.3(HCFC1):c.504-13C>A
NM_005334.3(HCFC1):c.504-16G>C
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) rs2148561246
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
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.5169C>T (p.Leu1723=)
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
NM_005334.3(HCFC1):c.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.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.5261-8C>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.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.5313C>T (p.Ser1771=)
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=) rs1220039024
NM_005334.3(HCFC1):c.5379+10del
NM_005334.3(HCFC1):c.5379+15T>C
NM_005334.3(HCFC1):c.5379+7C>T
NM_005334.3(HCFC1):c.5380-13T>C
NM_005334.3(HCFC1):c.5380-15G>A
NM_005334.3(HCFC1):c.5380-16C>T
NM_005334.3(HCFC1):c.5380-19C>T
NM_005334.3(HCFC1):c.5380-7C>T
NM_005334.3(HCFC1):c.5380-8T>A
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
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.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.5518-10C>T
NM_005334.3(HCFC1):c.5518-18C>T
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
NM_005334.3(HCFC1):c.5553G>A (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.5646C>T (p.Ala1882=)
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
NM_005334.3(HCFC1):c.5703+11C>T
NM_005334.3(HCFC1):c.5703+14T>G
NM_005334.3(HCFC1):c.5703+19T>C
NM_005334.3(HCFC1):c.5704-11C>G
NM_005334.3(HCFC1):c.5704-11C>T
NM_005334.3(HCFC1):c.5704-13C>T
NM_005334.3(HCFC1):c.5704-14C>A
NM_005334.3(HCFC1):c.5704-15C>A
NM_005334.3(HCFC1):c.5704-20_5704-18del
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
NM_005334.3(HCFC1):c.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.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>C (p.Pro1943=)
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
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.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+16G>A
NM_005334.3(HCFC1):c.6005-11G>A
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.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.6090T>C (p.Ser2030=)
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.69G>A (p.Val23=)
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
NM_005334.3(HCFC1):c.712+11T>A
NM_005334.3(HCFC1):c.712+13G>T
NM_005334.3(HCFC1):c.712+9GGT[3]
NM_005334.3(HCFC1):c.713-10CT[2]
NM_005334.3(HCFC1):c.713-17C>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.741C>T (p.Leu247=)
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
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.84G>A (p.Pro28=)
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
NM_005334.3(HCFC1):c.904+10C>T
NM_005334.3(HCFC1):c.904+13C>T
NM_005334.3(HCFC1):c.904+16G>A
NM_005334.3(HCFC1):c.904+20C>T
NM_005334.3(HCFC1):c.905-9C>T
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
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.99C>T (p.Arg33=)
NM_014362.4(HIBCH):c.1011+10dup
NM_014362.4(HIBCH):c.1012-16C>G
NM_014362.4(HIBCH):c.1012-19A>T
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=) rs1575690645
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
NM_014362.4(HIBCH):c.219+16A>G rs2105992508
NM_014362.4(HIBCH):c.304+9T>G
NM_014362.4(HIBCH):c.305-5C>T
NM_014362.4(HIBCH):c.517+16T>C
NM_014362.4(HIBCH):c.518-12A>G
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
NM_014362.4(HIBCH):c.663+13A>G
NM_014362.4(HIBCH):c.663+14T>G
NM_014362.4(HIBCH):c.664-18T>C
NM_014362.4(HIBCH):c.78+17G>A
NM_014362.4(HIBCH):c.783T>G (p.Leu261=) rs2105934861
NM_014362.4(HIBCH):c.79-4A>T
NM_014362.4(HIBCH):c.79-9T>C
NM_014362.4(HIBCH):c.798C>T (p.Asp266=) rs2105934821
NM_014362.4(HIBCH):c.809+19C>T rs1249772787
NM_014362.4(HIBCH):c.810-4A>G
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
NM_014362.4(HIBCH):c.891+16T>C
NM_014362.4(HIBCH):c.891+18T>C rs959638999
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
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.1195+10G>A
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA rs2136084544
NM_014384.3(ACAD8):c.1196-9C>G
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
NM_014384.3(ACAD8):c.210+7G>A
NM_014384.3(ACAD8):c.243A>C (p.Ala81=) rs1591506881
NM_014384.3(ACAD8):c.27C>T (p.Phe9=) rs2136068044
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
NM_014384.3(ACAD8):c.380+7G>T rs1335335796
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
NM_014384.3(ACAD8):c.621A>G (p.Thr207=) rs1315587870
NM_014384.3(ACAD8):c.804T>C (p.Ile268=) rs757519037
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
NM_014384.3(ACAD8):c.842-19C>T
NM_014384.3(ACAD8):c.909G>A (p.Lys303=) rs2136082667
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)
NM_015506.3(MMACHC):c.120C>T (p.His40=)
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
NM_015506.3(MMACHC):c.141C>G (p.Thr47=) rs936938761
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
NM_015506.3(MMACHC):c.15C>T (p.Val5=) rs902026116
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
NM_015506.3(MMACHC):c.210C>T (p.Cys70=) rs2149323253
NM_015506.3(MMACHC):c.231C>T (p.Asp77=) rs2149323265
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
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.270T>G (p.Val90=) rs2149323292
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
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+8A>G
NM_015506.3(MMACHC):c.276+9G>A
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.277-20T>C
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.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.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
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.360A>C (p.Ala120=)
NM_015506.3(MMACHC):c.366T>C (p.His122=) 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.372T>C (p.Ala124=)
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
NM_015506.3(MMACHC):c.429+12A>C
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+20T>C
NM_015506.3(MMACHC):c.429+20T>G
NM_015506.3(MMACHC):c.429+7G>A rs1227206156
NM_015506.3(MMACHC):c.429+7_429+31del rs2149323628
NM_015506.3(MMACHC):c.429+9G>C
NM_015506.3(MMACHC):c.430-10C>A
NM_015506.3(MMACHC):c.430-10C>T rs550692873
NM_015506.3(MMACHC):c.430-11C>T
NM_015506.3(MMACHC):c.430-12C>T
NM_015506.3(MMACHC):c.430-13A>T
NM_015506.3(MMACHC):c.430-16T>C
NM_015506.3(MMACHC):c.430-8C>T rs1217401490
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
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.45G>A (p.Thr15=) rs750623781
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
NM_015506.3(MMACHC):c.495G>C (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
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.546T>C (p.Cys182=) rs2149323890
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.564C>T (p.Asp188=) rs1397062260
NM_015506.3(MMACHC):c.573C>T (p.Ala191=) rs750572915
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.591T>C (p.Asn197=)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
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.63C>T (p.Phe21=) rs2149320920
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
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.696C>G (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
NM_015506.3(MMACHC):c.720A>G (p.Ser240=) rs764969563
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.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.753C>A (p.Pro251=) rs1643688309
NM_015506.3(MMACHC):c.753C>T (p.Pro251=) rs1643688309
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.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=) rs770431439
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.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.82-16G>C
NM_015506.3(MMACHC):c.82-17T>C
NM_015506.3(MMACHC):c.82-18C>T
NM_015506.3(MMACHC):c.82-7G>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.846T>C (p.Pro282=)
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
NM_015702.3(MMADHC):c.10-11G>C
NM_015702.3(MMADHC):c.10-13G>A
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.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.138T>C (p.Ala46=)
NM_015702.3(MMADHC):c.150T>C (p.Asp50=) rs2105049895
NM_015702.3(MMADHC):c.154+17A>C
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.155-12_155-10del
NM_015702.3(MMADHC):c.155-16T>G
NM_015702.3(MMADHC):c.155-17T>C
NM_015702.3(MMADHC):c.155-6C>T
NM_015702.3(MMADHC):c.155-7T>C rs1305728146
NM_015702.3(MMADHC):c.155-8C>G rs1349035917
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
NM_015702.3(MMADHC):c.168G>A (p.Val56=) rs2105048289
NM_015702.3(MMADHC):c.192C>A (p.Pro64=) rs2105048270
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=) rs1327529103
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
NM_015702.3(MMADHC):c.249C>T (p.His83=)
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
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.318T>C (p.Pro106=)
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
NM_015702.3(MMADHC):c.372+17A>G
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.373-4T>G
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.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.456A>G (p.Thr152=) rs374470946
NM_015702.3(MMADHC):c.459T>C (p.Cys153=) rs1323984126
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
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+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.479-4G>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.486A>G (p.Glu162=)
NM_015702.3(MMADHC):c.48A>C (p.Pro16=) rs2105050018
NM_015702.3(MMADHC):c.507T>C (p.Ala169=) rs1347714473
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
NM_015702.3(MMADHC):c.531T>C (p.Thr177=) rs369822209
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
NM_015702.3(MMADHC):c.534A>G (p.Val178=) rs1268371654
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
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.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+8T>G
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015702.3(MMADHC):c.610-12C>T
NM_015702.3(MMADHC):c.610-13A>G
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.639T>C (p.Tyr213=)
NM_015702.3(MMADHC):c.666T>C (p.Ala222=) rs2105042235
NM_015702.3(MMADHC):c.672T>C (p.Phe224=) rs2105042231
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=) rs766184567
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
NM_015702.3(MMADHC):c.696+16T>C
NM_015702.3(MMADHC):c.696+17T>A
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.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.759A>T (p.Gly253=) rs886054920
NM_015702.3(MMADHC):c.795T>C (p.Ile265=) rs1682615780
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.840C>T (p.Phe280=) rs2105041390
NM_015702.3(MMADHC):c.864T>C (p.His288=)
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.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.1008A>G (p.Gly336=)
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.1084-20A>G
NM_018368.4(LMBRD1):c.1084-3dup
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
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.1189-4C>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.120G>T (p.Arg40=)
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
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.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.1383T>A (p.Ser461=)
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.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.1524A>T (p.Gly508=)
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
NM_018368.4(LMBRD1):c.246+10A>G
NM_018368.4(LMBRD1):c.246+16C>T
NM_018368.4(LMBRD1):c.247-13C>A
NM_018368.4(LMBRD1):c.247-14T>A
NM_018368.4(LMBRD1):c.247-17G>A
NM_018368.4(LMBRD1):c.247-20A>G
NM_018368.4(LMBRD1):c.247-6T>C
NM_018368.4(LMBRD1):c.247-8T>A rs769329039
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=) rs769952932
NM_018368.4(LMBRD1):c.307+13C>T
NM_018368.4(LMBRD1):c.307+15G>A
NM_018368.4(LMBRD1):c.308-17A>G
NM_018368.4(LMBRD1):c.308-5C>T
NM_018368.4(LMBRD1):c.308-6C>T
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
NM_018368.4(LMBRD1):c.357C>T (p.Val119=) rs2149877968
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
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.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+9C>A
NM_018368.4(LMBRD1):c.406-18T>C
NM_018368.4(LMBRD1):c.406-8G>A
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
NM_018368.4(LMBRD1):c.473+10G>C
NM_018368.4(LMBRD1):c.473+11A>T
NM_018368.4(LMBRD1):c.474-16A>G
NM_018368.4(LMBRD1):c.474-4G>A
NM_018368.4(LMBRD1):c.474-6T>C
NM_018368.4(LMBRD1):c.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.516A>G (p.Thr172=)
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
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+7A>G
NM_018368.4(LMBRD1):c.563-10T>G
NM_018368.4(LMBRD1):c.563-11T>C rs1767012664
NM_018368.4(LMBRD1):c.563-15T>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.60C>T (p.Leu20=) rs2149901083
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
NM_018368.4(LMBRD1):c.636+13G>A
NM_018368.4(LMBRD1):c.636+18A>G
NM_018368.4(LMBRD1):c.636+19A>C
NM_018368.4(LMBRD1):c.636+7G>T
NM_018368.4(LMBRD1):c.637-15T>A
NM_018368.4(LMBRD1):c.637-15T>C
NM_018368.4(LMBRD1):c.637-8T>C
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
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+20T>C
NM_018368.4(LMBRD1):c.69+8dup
NM_018368.4(LMBRD1):c.69+9G>A
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=) rs753043203
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
NM_018368.4(LMBRD1):c.70-20C>G
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
NM_018368.4(LMBRD1):c.762+11G>A
NM_018368.4(LMBRD1):c.762+12T>C
NM_018368.4(LMBRD1):c.762+15T>C
NM_018368.4(LMBRD1):c.762+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.828A>G (p.Leu276=)
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
NM_018368.4(LMBRD1):c.915+16A>G
NM_018368.4(LMBRD1):c.915+16A>T
NM_018368.4(LMBRD1):c.915+18A>T
NM_018368.4(LMBRD1):c.915+19A>G
NM_018368.4(LMBRD1):c.916-13T>C
NM_018368.4(LMBRD1):c.916-7C>T
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
NM_018368.4(LMBRD1):c.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.981-10T>A
NM_018368.4(LMBRD1):c.981-10T>C
NM_018368.4(LMBRD1):c.981-17T>C
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.990A>G (p.Lys330=)
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
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.1080T>C (p.Leu360=) rs2108486547
NM_020166.5(MCCC1):c.1083+16C>G
NM_020166.5(MCCC1):c.1083+9A>T rs376902416
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.1122A>G (p.Glu374=) rs752061963
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) rs1285687401
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) rs1016870729
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) rs1714087455
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) rs2108478875
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.1268-20A>C
NM_020166.5(MCCC1):c.1268-6T>C
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=) rs759359909
NM_020166.5(MCCC1):c.1317G>A (p.Val439=) rs1713855580
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+18T>A
NM_020166.5(MCCC1):c.136+18T>G
NM_020166.5(MCCC1):c.136+8C>G
NM_020166.5(MCCC1):c.136+9A>G
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
NM_020166.5(MCCC1):c.137-15T>C
NM_020166.5(MCCC1):c.137-18dup
NM_020166.5(MCCC1):c.137-7T>A
NM_020166.5(MCCC1):c.1377+16C>A
NM_020166.5(MCCC1):c.1378-17G>C
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
NM_020166.5(MCCC1):c.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>T (p.Leu473=) rs565662458
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=) rs200216718
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.1482A>G (p.Lys494=)
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=) rs2108470530
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=) rs1713694212
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.1587G>A (p.Gln529=)
NM_020166.5(MCCC1):c.1594+10G>T
NM_020166.5(MCCC1):c.1594+12T>A
NM_020166.5(MCCC1):c.1594+12T>C
NM_020166.5(MCCC1):c.1594+9G>A
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1681+10G>A
NM_020166.5(MCCC1):c.1681+13T>C
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.1682-6A>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
NM_020166.5(MCCC1):c.1731+7C>T
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=) rs2108441668
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=) rs2108441635
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=) rs2108441478
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.1848C>T (p.Asn616=)
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.1875A>C (p.Gly625=)
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
NM_020166.5(MCCC1):c.1977+13C>T
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.1978-8del rs747001867
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
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.2050-6_2050-5del rs780558586
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.2091G>A (p.Val697=)
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
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.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
NM_020166.5(MCCC1):c.264T>C (p.His88=)
NM_020166.5(MCCC1):c.274-18G>A
NM_020166.5(MCCC1):c.274-20A>G
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.336A>G (p.Lys112=) rs1204945524
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) rs2108553502
NM_020166.5(MCCC1):c.369+12G>A
NM_020166.5(MCCC1):c.369+14A>G
NM_020166.5(MCCC1):c.370-4C>A
NM_020166.5(MCCC1):c.411A>G (p.Glu137=) rs2108528534
NM_020166.5(MCCC1):c.423T>G (p.Leu141=) rs2108528517
NM_020166.5(MCCC1):c.462A>G (p.Pro154=) rs1010978187
NM_020166.5(MCCC1):c.491+10T>C
NM_020166.5(MCCC1):c.491+13A>G
NM_020166.5(MCCC1):c.491+14T>G
NM_020166.5(MCCC1):c.491+8T>C
NM_020166.5(MCCC1):c.492-11C>G
NM_020166.5(MCCC1):c.492-16C>A
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
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.561A>G (p.Ser187=)
NM_020166.5(MCCC1):c.582C>T (p.His194=)
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) rs1716663064
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) rs759345755
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
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+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.640-5C>A rs892786406
NM_020166.5(MCCC1):c.640-7C>G rs1414857427
NM_020166.5(MCCC1):c.648G>A (p.Arg216=) rs2108526043
NM_020166.5(MCCC1):c.660A>C (p.Ser220=) rs2108526023
NM_020166.5(MCCC1):c.66C>G (p.Leu22=) rs750778690
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
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.729T>C (p.Ala243=) rs886058208
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.75G>A (p.Leu25=)
NM_020166.5(MCCC1):c.762-13del
NM_020166.5(MCCC1):c.762-9T>C rs2108505742
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) rs2108505485
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
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.874-13A>T
NM_020166.5(MCCC1):c.874-15A>T
NM_020166.5(MCCC1):c.874-18T>A
NM_020166.5(MCCC1):c.874-4A>G
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) rs1383349919
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+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.90-5T>C
NM_020166.5(MCCC1):c.90-7G>A rs1490296486
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
NM_020166.5(MCCC1):c.955+10G>T rs1004658113
NM_020166.5(MCCC1):c.955+16C>T
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.969T>C (p.Phe323=) rs2108486797
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
NM_020166.5(MCCC1):c.99G>A (p.Val33=) rs1718607448
NM_022132.5(MCCC2):c.1000-17G>A
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=) rs760703487
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+9G>A rs779091338
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=) rs758139797
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
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.1150-4A>G
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=) rs2112463698
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=) rs2112463773
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.1216+12G>T
NM_022132.5(MCCC2):c.1216+19del
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.123C>T (p.Leu41=)
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=) rs1747359129
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=) rs752877391
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+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.130-16T>C
NM_022132.5(MCCC2):c.130-20C>A
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1373+16T>G
NM_022132.5(MCCC2):c.1374-15C>T
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=) rs758144158
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+8T>A
NM_022132.5(MCCC2):c.1488+9C>G rs1561848361
NM_022132.5(MCCC2):c.1489-10T>C
NM_022132.5(MCCC2):c.1489-16G>A rs1747467303
NM_022132.5(MCCC2):c.1489-4T>C rs1747467560
NM_022132.5(MCCC2):c.1489-5T>C
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) rs1580334193
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=) rs140220101
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=) rs1315911728
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
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.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.1575-5G>T rs924068629
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.1638T>C (p.Ser546=)
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=) rs781648337
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=) rs1200111967
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
NM_022132.5(MCCC2):c.196+19C>A
NM_022132.5(MCCC2):c.197-7A>G
NM_022132.5(MCCC2):c.210A>G (p.Lys70=) rs2112293469
NM_022132.5(MCCC2):c.237A>G (p.Gly79=) rs2112293709
NM_022132.5(MCCC2):c.244T>C (p.Leu82=) rs2112293727
NM_022132.5(MCCC2):c.246G>A (p.Leu82=) rs1427801007
NM_022132.5(MCCC2):c.252A>G (p.Arg84=) rs1295786119
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) rs1554133471
NM_022132.5(MCCC2):c.281+10T>G
NM_022132.5(MCCC2):c.281+14C>T
NM_022132.5(MCCC2):c.282-15C>T
NM_022132.5(MCCC2):c.282-9T>C rs1464131809
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.342G>A (p.Val114=)
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
NM_022132.5(MCCC2):c.384-10T>C
NM_022132.5(MCCC2):c.384-8C>G rs2112319784
NM_022132.5(MCCC2):c.384-9G>A rs2112319771
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
NM_022132.5(MCCC2):c.489C>T (p.Asn163=) rs774803841
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
NM_022132.5(MCCC2):c.511+10del
NM_022132.5(MCCC2):c.511+11A>C
NM_022132.5(MCCC2):c.511+13A>T
NM_022132.5(MCCC2):c.511+14G>T
NM_022132.5(MCCC2):c.511+20A>G
NM_022132.5(MCCC2):c.512-14T>A rs765487963
NM_022132.5(MCCC2):c.512-19T>G
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
NM_022132.5(MCCC2):c.528A>T (p.Ala176=) rs753733837
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
NM_022132.5(MCCC2):c.537T>A (p.Pro179=) rs1275219211
NM_022132.5(MCCC2):c.540A>G (p.Arg180=) rs2112328806
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.567C>T (p.Asp189=)
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
NM_022132.5(MCCC2):c.618T>C (p.Ile206=) rs2112329401
NM_022132.5(MCCC2):c.624+10C>A rs2112329449
NM_022132.5(MCCC2):c.624+15A>C
NM_022132.5(MCCC2):c.624+15A>G
NM_022132.5(MCCC2):c.625-15G>A
NM_022132.5(MCCC2):c.625-18C>T
NM_022132.5(MCCC2):c.625-19T>C
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
NM_022132.5(MCCC2):c.630A>G (p.Ala210=) rs760020328
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
NM_022132.5(MCCC2):c.663C>T (p.Ala221=) rs978623277
NM_022132.5(MCCC2):c.672T>C (p.Pro224=) rs1337800475
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
NM_022132.5(MCCC2):c.699A>G (p.Val233=) rs2112412515
NM_022132.5(MCCC2):c.708G>A (p.Gln236=) rs2112412564
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.729A>C (p.Gly243=) rs535377555
NM_022132.5(MCCC2):c.738+11A>G
NM_022132.5(MCCC2):c.738+17G>A
NM_022132.5(MCCC2):c.738+8C>A rs1746541390
NM_022132.5(MCCC2):c.739-11C>T
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.747G>A (p.Ala249=)
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
NM_022132.5(MCCC2):c.765A>G (p.Val255=) rs1405840387
NM_022132.5(MCCC2):c.786T>G (p.Gly262=) rs1041557611
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
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+7C>T rs1561840847
NM_022132.5(MCCC2):c.803+9_803+10del rs1561840849
NM_022132.5(MCCC2):c.804-4G>A
NM_022132.5(MCCC2):c.822C>T (p.Asp274=) rs2112437391
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.898T>C (p.Leu300=) rs1746869158
NM_022132.5(MCCC2):c.903+13T>C
NM_022132.5(MCCC2):c.903+20A>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.90G>A (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.90G>C (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
NM_022132.5(MCCC2):c.960A>C (p.Ile320=) rs1746875605
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
NM_022132.5(MCCC2):c.987T>C (p.Phe329=) rs2112438541
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
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.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+20C>T
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.143-4G>T
NM_025136.4(OPA3):c.143-5C>T rs770452409
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.15G>A (p.Ala5=)
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
NM_025136.4(OPA3):c.201C>T (p.Val67=) rs539986269
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
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.21T>A (p.Pro7=)
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
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.240C>T (p.Gly80=)
NM_025136.4(OPA3):c.246G>A (p.Glu82=) rs1599964759
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
NM_025136.4(OPA3):c.255C>G (p.Gly85=) rs951025429
NM_025136.4(OPA3):c.273C>T (p.Ile91=) rs369545089
NM_025136.4(OPA3):c.279C>T (p.Gly93=) rs1165747962
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
NM_025136.4(OPA3):c.282C>T (p.Gly94=) rs1478895044
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
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.30G>A (p.Lys10=) rs1131692018
NM_025136.4(OPA3):c.318G>T (p.Ala106=) rs867188673
NM_025136.4(OPA3):c.327C>G (p.Arg109=) rs2122439641
NM_025136.4(OPA3):c.33G>A (p.Leu11=) rs148805518
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
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.390G>A (p.Ala130=) rs2122439205
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
NM_025136.4(OPA3):c.397C>T (p.Leu133=) rs2122439146
NM_025136.4(OPA3):c.405G>A (p.Ala135=) rs750848548
NM_025136.4(OPA3):c.40T>C (p.Leu14=) rs2122529532
NM_025136.4(OPA3):c.414G>A (p.Ala138=) rs1969373306
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
NM_025136.4(OPA3):c.417G>A (p.Gln139=) rs2122438987
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
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.456G>A (p.Leu152=)
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
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.471A>G (p.Gln157=)
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.489C>T (p.Leu163=)
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
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.516C>T (p.His172=) rs1427115632
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.57C>T (p.Val19=) rs1600010212
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.75C>T (p.Asn25=) rs2122529407
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
NM_025136.4(OPA3):c.90C>A (p.Ala30=) rs1600010139
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
NM_030813.6(CLPB):c.675C>T (p.His225=)
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
NM_030813.6(CLPB):c.705G>A (p.Glu235=) rs2135657829
NM_030813.6(CLPB):c.729C>T (p.Pro243=)
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
NM_032861.4(SERAC1):c.1166+15G>A
NM_032861.4(SERAC1):c.1166+8del rs766776726
NM_032861.4(SERAC1):c.1167-15T>C
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=) rs2128412053
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
NM_032861.4(SERAC1):c.128+7C>T
NM_032861.4(SERAC1):c.1309-18A>G
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
NM_032861.4(SERAC1):c.138A>G (p.Leu46=) rs777425675
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
NM_032861.4(SERAC1):c.1501+16A>C rs369225459
NM_032861.4(SERAC1):c.1501+16A>G rs369225459
NM_032861.4(SERAC1):c.1502-16C>T
NM_032861.4(SERAC1):c.1502-20T>A rs867006888
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
NM_032861.4(SERAC1):c.1684+10T>C
NM_032861.4(SERAC1):c.1684+20A>G
NM_032861.4(SERAC1):c.1684+7C>T rs765831183
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
NM_032861.4(SERAC1):c.195G>A (p.Val65=) rs2128422348
NM_032861.4(SERAC1):c.21C>T (p.Cys7=) rs139301835
NM_032861.4(SERAC1):c.265+11T>C
NM_032861.4(SERAC1):c.265+11del
NM_032861.4(SERAC1):c.356-16T>C rs1785075456
NM_032861.4(SERAC1):c.356-20G>C
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
NM_032861.4(SERAC1):c.610-17C>G
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
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.780T>C (p.Ala260=) rs2128415873
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.876C>A (p.Ile292=)
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
NM_032861.4(SERAC1):c.91+13T>A
NM_032861.4(SERAC1):c.91+9A>G
NM_032861.4(SERAC1):c.92-17C>T rs1785305261
NM_032861.4(SERAC1):c.92-20del
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
NM_052845.4(MMAB):c.105C>T (p.Arg35=) rs1884735595
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.126C>T (p.Asp42=) rs2136213327
NM_052845.4(MMAB):c.132C>T (p.Asp44=) rs747649185
NM_052845.4(MMAB):c.134+10T>G
NM_052845.4(MMAB):c.134+14G>A
NM_052845.4(MMAB):c.134+16del
NM_052845.4(MMAB):c.134+20G>A
NM_052845.4(MMAB):c.134+7G>A
NM_052845.4(MMAB):c.135-12A>T
NM_052845.4(MMAB):c.135-19G>A
NM_052845.4(MMAB):c.135-8C>T rs2136210870
NM_052845.4(MMAB):c.144T>G (p.Pro48=) rs2136210832
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
NM_052845.4(MMAB):c.165C>T (p.Ile55=) rs2136210798
NM_052845.4(MMAB):c.16C>T (p.Leu6=) rs1190176115
NM_052845.4(MMAB):c.177C>T (p.Tyr59=) rs2136210789
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
NM_052845.4(MMAB):c.189A>G (p.Gly63=) rs2136210776
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
NM_052845.4(MMAB):c.196+13C>G
NM_052845.4(MMAB):c.196+17T>G
NM_052845.4(MMAB):c.196+9G>A
NM_052845.4(MMAB):c.197-12T>C
NM_052845.4(MMAB):c.197-14A>G
NM_052845.4(MMAB):c.197-15C>A
NM_052845.4(MMAB):c.197-7T>C
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.225G>A (p.Arg75=) rs267603297
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
NM_052845.4(MMAB):c.243A>G (p.Gln81=) rs1473011297
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
NM_052845.4(MMAB):c.258G>A (p.Val86=) rs2136208331
NM_052845.4(MMAB):c.27T>C (p.Arg9=) rs1311011214
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
NM_052845.4(MMAB):c.290+12A>G
NM_052845.4(MMAB):c.290+19G>T
NM_052845.4(MMAB):c.290+7G>C
NM_052845.4(MMAB):c.290+8G>T
NM_052845.4(MMAB):c.291-15C>G
NM_052845.4(MMAB):c.291-18T>C
NM_052845.4(MMAB):c.291-3dup rs2136203965
NM_052845.4(MMAB):c.291-5C>G
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
NM_052845.4(MMAB):c.297T>C (p.Ala99=) rs2136203950
NM_052845.4(MMAB):c.30T>C (p.Leu10=) rs757088429
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
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.349-14C>G
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.360A>C (p.Thr120=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.381C>T (p.Ala127=) rs1204546700
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
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+7C>A
NM_052845.4(MMAB):c.422-19del
NM_052845.4(MMAB):c.422-5_422-3del rs2136199438
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
NM_052845.4(MMAB):c.432G>A (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
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.483C>T (p.Thr161=)
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
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+16G>A
NM_052845.4(MMAB):c.519+19T>A
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.54G>A (p.Leu18=) rs1884741296
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.564G>A (p.Val188=)
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
NM_052845.4(MMAB):c.573G>C (p.Arg191=) rs2136198226
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
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.584+12G>A
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.584+8G>C
NM_052845.4(MMAB):c.584+9G>C
NM_052845.4(MMAB):c.585-10C>T rs375474421
NM_052845.4(MMAB):c.585-12C>T
NM_052845.4(MMAB):c.585-16T>A
NM_052845.4(MMAB):c.585-16T>C
NM_052845.4(MMAB):c.585-17G>A
NM_052845.4(MMAB):c.585-18T>C
NM_052845.4(MMAB):c.585-4C>G rs2136195288
NM_052845.4(MMAB):c.585-9C>T
NM_052845.4(MMAB):c.591G>A (p.Val197=) rs2136195257
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
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.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.644+14A>C
NM_052845.4(MMAB):c.644+17T>C
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.660C>G (p.Leu220=)
NM_052845.4(MMAB):c.666G>T (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.66C>T (p.Phe22=) rs765869812
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
NM_052845.4(MMAB):c.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.84G>A (p.Leu28=) rs747142605
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
NM_145261.4(DNAJC19):c.129+7C>T rs2108509597
NM_145261.4(DNAJC19):c.130-4T>C
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
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_210-13del rs757422860
NM_145261.4(DNAJC19):c.210-18A>G
NM_145261.4(DNAJC19):c.210-4T>C
NM_145261.4(DNAJC19):c.280+15A>C
NM_145261.4(DNAJC19):c.280+19C>A rs1203314065
NM_145261.4(DNAJC19):c.281-15T>G
NM_145261.4(DNAJC19):c.281-21_281-19del
NM_145261.4(DNAJC19):c.281-21_281-20del
NM_145261.4(DNAJC19):c.281-4A>G
NM_145261.4(DNAJC19):c.281-5T>A rs766954639
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=) rs2108506993
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
NM_145261.4(DNAJC19):c.3+13T>C rs2108511019
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
NM_145261.4(DNAJC19):c.55+10T>C
NM_145261.4(DNAJC19):c.55+20A>T rs1577025780
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.63C>T (p.Tyr21=) rs145786060
NM_145261.4(DNAJC19):c.84T>C (p.His28=)
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
NM_172250.3(MMAA):c.1005C>A (p.Ile335=) rs2126629821
NM_172250.3(MMAA):c.1023A>G (p.Lys341=) rs2126629831
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
NM_172250.3(MMAA):c.1056T>C (p.Ser352=) rs1302017266
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
NM_172250.3(MMAA):c.1095T>C (p.Val365=) rs2126629917
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
NM_172250.3(MMAA):c.1131G>A (p.Glu377=) rs2126629961
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.1161A>G (p.Glu387=)
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.1197G>A (p.Gly399=)
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.1228T>C (p.Leu410=)
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.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.186G>A (p.Lys62=)
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
NM_172250.3(MMAA):c.201A>G (p.Val67=)
NM_172250.3(MMAA):c.204A>G (p.Gln68=) rs1727714117
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.264A>G (p.Lys88=)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe) rs148404005
NM_172250.3(MMAA):c.288G>A (p.Gly96=) rs559279147
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
NM_172250.3(MMAA):c.342G>A (p.Arg114=) rs774790573
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
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.375A>G (p.Lys125=)
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
NM_172250.3(MMAA):c.390C>T (p.His130=)
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.414A>G (p.Lys138=) rs1237655127
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+9T>C
NM_172250.3(MMAA):c.440-10dup
NM_172250.3(MMAA):c.440-19A>C
NM_172250.3(MMAA):c.440-7A>C rs1337205137
NM_172250.3(MMAA):c.440-9C>A
NM_172250.3(MMAA):c.453C>G (p.Pro151=) rs879110861
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
NM_172250.3(MMAA):c.513G>A (p.Gly171=) rs2126620000
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
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.555T>C (p.Thr185=)
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.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.585C>A (p.Thr195=)
NM_172250.3(MMAA):c.600A>G (p.Leu200=) rs2126622751
NM_172250.3(MMAA):c.603A>G (p.Ser201=) rs2126622760
NM_172250.3(MMAA):c.618A>G (p.Ala206=) rs1727920444
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
NM_172250.3(MMAA):c.657C>A (p.Gly219=) rs1291307841
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
NM_172250.3(MMAA):c.663A>G (p.Thr221=) rs2126622855
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
NM_172250.3(MMAA):c.733+12A>G
NM_172250.3(MMAA):c.733+16T>G
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.762T>A (p.Ala254=)
NM_172250.3(MMAA):c.762T>C (p.Ala254=) rs1033389087
NM_172250.3(MMAA):c.771T>C (p.Val257=) rs2126627142
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
NM_172250.3(MMAA):c.783T>A (p.Val261=) rs2126627167
NM_172250.3(MMAA):c.783T>G (p.Val261=)
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
NM_172250.3(MMAA):c.78C>T (p.Phe26=) rs2126617065
NM_172250.3(MMAA):c.816G>A (p.Leu272=) rs1728078075
NM_172250.3(MMAA):c.819+11T>G
NM_172250.3(MMAA):c.819+13del
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.820-7T>C
NM_172250.3(MMAA):c.820-8C>G rs1728162232
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
NM_172250.3(MMAA):c.858A>G (p.Val286=) rs142063642
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
NM_172250.3(MMAA):c.885G>A (p.Leu295=) rs2126629113
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
NM_172250.3(MMAA):c.924T>C (p.Ser308=) rs2126629166
NM_172250.3(MMAA):c.933A>G (p.Lys311=) rs2126629176
NM_172250.3(MMAA):c.942C>A (p.Arg314=) rs773218154
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
NM_172250.3(MMAA):c.957C>T (p.Val319=)
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.970-3dup
NM_172250.3(MMAA):c.970-4A>T rs1728189053
NM_172250.3(MMAA):c.970-5G>T
NM_172250.3(MMAA):c.972A>G (p.Val324=) rs2126629778
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
NM_172250.3(MMAA):c.99T>C (p.His33=) rs2126617089

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