ClinVar Miner

List of variants reported as uncertain significance for anterior horn disorder by Invitae

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4884
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_001008212.2(OPTN):c.1396G>T (p.Ala466Ser) rs144466778 0.00034
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_004960.4(FUS):c.188A>G (p.Asn63Ser) rs140883211 0.00033
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_004082.5(DCTN1):c.3029+6G>T rs754143116 0.00029
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441 0.00029
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00026
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala) rs75427357 0.00026
NM_213720.3(CHCHD10):c.409+1G>A rs367684804 0.00025
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys) rs147724326 0.00023
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00022
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val) rs80356715 0.00022
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp) rs201178873 0.00021
NM_205836.3(FBXO38):c.3379G>A (p.Asp1127Asn) rs145662452 0.00021
NM_003334.4(UBA1):c.1049G>A (p.Arg350His) rs5906354 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys) rs1280034815 0.00020
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591 0.00019
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859 0.00019
NM_205836.3(FBXO38):c.1861C>T (p.Arg621Cys) rs146121161 0.00019
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu) rs186224021 0.00018
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly) rs545080321 0.00018
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly) rs200541240 0.00017
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr) rs201075828 0.00017
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu) rs186547381 0.00016
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr) rs372143370 0.00016
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428 0.00016
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_013254.4(TBK1):c.1957G>C (p.Glu653Gln) rs144370662 0.00015
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu) rs149380040 0.00015
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val) rs199797401 0.00015
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser) rs201165929 0.00015
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) rs368899583 0.00014
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) rs140599944 0.00014
NM_003900.5(SQSTM1):c.214G>A (p.Gly72Arg) rs376802604 0.00014
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662 0.00014
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272 0.00014
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) rs773393717 0.00014
NM_205836.3(FBXO38):c.1862G>A (p.Arg621His) rs199901955 0.00014
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269 0.00013
NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) rs376564889 0.00013
NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His) rs776489779 0.00013
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075 0.00012
NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp) rs781929195 0.00012
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr) rs113980038 0.00012
NM_004082.5(DCTN1):c.2015+3A>G rs200057343 0.00012
NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile) rs1336386973 0.00012
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312 0.00012
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr) rs371024271 0.00011
NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala) rs150798076 0.00011
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu) rs34774243 0.00011
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_205836.3(FBXO38):c.1117G>A (p.Val373Met) rs201279960 0.00011
NM_205836.3(FBXO38):c.1968G>T (p.Gln656His) rs370471937 0.00011
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995 0.00010
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) rs375300165 0.00010
NM_002180.3(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003 0.00010
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp) rs139130383 0.00010
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser) rs752506754 0.00010
NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met) rs143914684 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly) rs758320436 0.00010
NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro) rs372096285 0.00010
NM_004960.4(FUS):c.661_663del (p.Ser221del) rs746633090 0.00010
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532 0.00010
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905 0.00010
NM_205836.3(FBXO38):c.3261C>G (p.Ile1087Met) rs201719515 0.00010
NM_001008212.2(OPTN):c.1401+4A>G rs371470839 0.00009
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val) rs779639460 0.00009
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His) rs756408576 0.00009
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg) rs149350224 0.00009
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 0.00009
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) rs144718603 0.00009
NM_006308.3(HSPB3):c.98dup (p.Leu34fs) rs778166378 0.00009
NM_014043.4(CHMP2B):c.532-3T>C rs375829451 0.00009
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser) rs144637575 0.00009
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp) rs189468475 0.00009
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu) rs369440409 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile) rs754211137 0.00009
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) rs199864231 0.00009
NM_199189.3(MATR3):c.-339+2T>A rs539017488 0.00009
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) rs146409569 0.00008
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr) rs139871647 0.00008
NM_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00008
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) rs372751122 0.00008
NM_006308.3(HSPB3):c.2T>C (p.Met1Thr) rs769845878 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 0.00008
NM_205836.3(FBXO38):c.2176G>A (p.Asp726Asn) rs548894296 0.00008
NM_205836.3(FBXO38):c.561A>G (p.Ile187Met) rs750935580 0.00008
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) rs142812715 0.00007
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His) rs149424705 0.00007
NM_004082.5(DCTN1):c.1490G>A (p.Arg497His) rs369086889 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004082.5(DCTN1):c.2426A>T (p.Asp809Val) rs781268909 0.00007
NM_004082.5(DCTN1):c.3529+3A>G rs370727908 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_013254.4(TBK1):c.1179A>G (p.Ile393Met) rs755520364 0.00007
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys) rs552364487 0.00007
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653 0.00007
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275 0.00007
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140 0.00007
NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp) rs376624433 0.00007
NM_205836.3(FBXO38):c.1834G>A (p.Val612Ile) rs201999494 0.00007
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) rs374353973 0.00007
NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr) rs760492259 0.00006
NM_001008212.2(OPTN):c.619A>G (p.Thr207Ala) rs750995656 0.00006
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) rs372940951 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) rs746259825 0.00006
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00006
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His) rs902195752 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr) rs764443534 0.00006
NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val) rs72659379 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg) rs758026180 0.00006
NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala) rs762752851 0.00006
NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln) rs573184955 0.00006
NM_004960.4(FUS):c.630G>C (p.Gln210His) rs779124981 0.00006
NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn) rs746079387 0.00006
NM_007126.5(VCP):c.1482+4G>A rs768327051 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014043.4(CHMP2B):c.613C>T (p.Arg205Trp) rs373536428 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val) rs766453846 0.00006
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619 0.00006
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln) rs373611638 0.00006
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313 0.00006
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp) rs139188442 0.00006
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662 0.00006
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys) rs763551102 0.00006
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met) rs373678202 0.00006
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_205836.3(FBXO38):c.1756C>T (p.Arg586Cys) rs144744644 0.00006
NM_205836.3(FBXO38):c.1858C>T (p.Arg620Trp) rs539397614 0.00006
NM_205836.3(FBXO38):c.2675G>A (p.Arg892His) rs183483408 0.00006
NM_205836.3(FBXO38):c.2683A>G (p.Met895Val) rs758909222 0.00006
NM_001003800.2(BICD2):c.79A>G (p.Lys27Glu) rs575275088 0.00005
NM_002180.3(IGHMBP2):c.1632+4C>T rs775832239 0.00005
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 0.00005
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) rs541833561 0.00005
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln) rs1412431442 0.00005
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln) rs1258386028 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly) rs145857843 0.00005
NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu) rs752079233 0.00005
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly) rs780875333 0.00005
NM_004082.5(DCTN1):c.35C>T (p.Thr12Met) rs72659364 0.00005
NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln) rs149447433 0.00005
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) rs752091117 0.00005
NM_013254.4(TBK1):c.1718G>A (p.Arg573His) rs186475789 0.00005
NM_013444.4(UBQLN2):c.1525C>T (p.Pro509Ser) rs387906712 0.00005
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574 0.00005
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=) rs759430357 0.00005
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn) rs542531545 0.00005
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg) rs771066341 0.00005
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633 0.00005
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His) rs909536143 0.00005
NM_021815.5(SLC5A7):c.466A>T (p.Ile156Phe) rs763294235 0.00005
NM_205836.3(FBXO38):c.3490G>A (p.Val1164Ile) rs902315086 0.00005
NM_205836.3(FBXO38):c.3536A>G (p.Asn1179Ser) rs373082610 0.00005
NM_205836.3(FBXO38):c.781G>A (p.Ala261Thr) rs760815624 0.00005
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741 0.00004
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser) rs768029813 0.00004
NM_001003800.2(BICD2):c.1649A>G (p.Asn550Ser) rs754018322 0.00004
NM_001003800.2(BICD2):c.2465C>T (p.Pro822Leu) rs768524403 0.00004
NM_001003800.2(BICD2):c.746C>T (p.Thr249Met) rs148937530 0.00004
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) rs377219791 0.00004
NM_001008212.2(OPTN):c.1588C>A (p.Gln530Lys) rs759605171 0.00004
NM_001008212.2(OPTN):c.1618G>C (p.Glu540Gln) rs577097767 0.00004
NM_001008212.2(OPTN):c.425A>C (p.Gln142Pro) rs757411888 0.00004
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) rs750407517 0.00004
NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 0.00004
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345 0.00004
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) rs751046981 0.00004
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val) rs759609027 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe) rs772945179 0.00004
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp) rs148642741 0.00004
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile) rs782106589 0.00004
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser) rs149161653 0.00004
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836 0.00004
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu) rs777028935 0.00004
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln) rs536881543 0.00004
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys) rs769507445 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln) rs200551825 0.00004
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu) rs745356508 0.00004
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile) rs539682696 0.00004
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His) rs761822261 0.00004
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala) rs142719499 0.00004
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met) rs150926394 0.00004
NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln) rs752399708 0.00004
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val) rs763480310 0.00004
NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser) rs146865209 0.00004
NM_004082.5(DCTN1):c.2090G>A (p.Arg697His) rs758712765 0.00004
NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys) rs377183051 0.00004
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr) rs374163967 0.00004
NM_004082.5(DCTN1):c.259A>G (p.Ile87Val) rs969750631 0.00004
NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys) rs747769504 0.00004
NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln) rs375079576 0.00004
NM_004082.5(DCTN1):c.3353A>T (p.Gln1118Leu) rs1357089479 0.00004
NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His) rs980920477 0.00004
NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val) rs775442446 0.00004
NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys) rs759373031 0.00004
NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val) rs1026036256 0.00004
NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser) rs960727301 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004082.5(DCTN1):c.824G>A (p.Arg275His) rs375266113 0.00004
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) rs774643393 0.00004
NM_004738.5(VAPB):c.58+5G>A rs753611165 0.00004
NM_004960.4(FUS):c.484A>C (p.Asn162His) rs200264565 0.00004
NM_004960.4(FUS):c.676G>A (p.Gly226Ser) rs758970940 0.00004
NM_004960.4(FUS):c.788A>G (p.Asn263Ser) rs144917373 0.00004
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) rs146118253 0.00004
NM_006308.3(HSPB3):c.346C>T (p.Arg116Ter) rs757339596 0.00004
NM_006308.3(HSPB3):c.37C>T (p.Pro13Ser) rs372042812 0.00004
NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln) rs766183158 0.00004
NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro) rs1247249384 0.00004
NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln) rs145429721 0.00004
NM_006736.6(DNAJB2):c.444C>T (p.Ser148=) rs200554674 0.00004
NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp) rs776893562 0.00004
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977 0.00004
NM_006736.6(DNAJB2):c.754G>C (p.Asp252His) rs375536235 0.00004
NM_007126.5(VCP):c.1242G>A (p.Leu414=) rs375262833 0.00004
NM_007375.4(TARDBP):c.1169A>G (p.Asn390Ser) rs80356742 0.00004
NM_013254.4(TBK1):c.1057A>G (p.Ile353Val) rs755655622 0.00004
NM_013254.4(TBK1):c.125A>G (p.Asn42Ser) rs748061846 0.00004
NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile) rs779715292 0.00004
NM_013254.4(TBK1):c.1603G>A (p.Ala535Thr) rs199905735 0.00004
NM_013254.4(TBK1):c.1792A>G (p.Met598Val) rs899858451 0.00004
NM_013444.4(UBQLN2):c.1037C>G (p.Ser346Cys) rs753009660 0.00004
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile) rs374277596 0.00004
NM_014043.4(CHMP2B):c.321+3A>G rs989392144 0.00004
NM_014043.4(CHMP2B):c.428A>G (p.Asn143Ser) rs63750944 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_018834.6(MATR3):c.1778+5T>C rs377212154 0.00004
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala) rs765603068 0.00004
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn) rs774070119 0.00004
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu) rs374819399 0.00004
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr) rs760113279 0.00004
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro) rs1020039192 0.00004
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780 0.00004
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys) rs184242303 0.00004
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556 0.00004
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_020631.6(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921 0.00004
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser) rs201267486 0.00004
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887 0.00004
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln) rs757121838 0.00004
NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe) rs754554826 0.00004
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr) rs200286711 0.00004
NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr) rs375397889 0.00004
NM_205836.3(FBXO38):c.1169T>C (p.Ile390Thr) rs141355914 0.00004
NM_205836.3(FBXO38):c.1685C>T (p.Thr562Ile) rs748051444 0.00004
NM_205836.3(FBXO38):c.2095G>A (p.Asp699Asn) rs569854063 0.00004
NM_205836.3(FBXO38):c.2201G>C (p.Gly734Ala) rs745545823 0.00004
NM_205836.3(FBXO38):c.2212G>A (p.Glu738Lys) rs141211499 0.00004
NM_205836.3(FBXO38):c.2332T>A (p.Cys778Ser) rs770230868 0.00004
NM_205836.3(FBXO38):c.3358G>A (p.Ala1120Thr) rs140529583 0.00004
NM_205836.3(FBXO38):c.3473G>A (p.Arg1158His) rs754331887 0.00004
NM_205836.3(FBXO38):c.785G>A (p.Arg262Gln) rs1255912171 0.00004
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) rs371437007 0.00004
NM_213720.3(CHCHD10):c.42-2A>G rs1354578196 0.00004
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe) rs1189381967 0.00003
NM_001003800.2(BICD2):c.2192A>G (p.Asn731Ser) rs756538071 0.00003
NM_001008212.2(OPTN):c.1533-3C>T rs373981784 0.00003
NM_001008212.2(OPTN):c.1643G>A (p.Arg548Gln) rs550042475 0.00003
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_001008212.2(OPTN):c.799A>G (p.Lys267Glu) rs780122817 0.00003
NM_001008212.2(OPTN):c.811C>T (p.Arg271Cys) rs540943401 0.00003
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394 0.00003
NM_002180.3(IGHMBP2):c.1560G>T (p.Leu520Phe) rs375645505 0.00003
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His) rs369816416 0.00003
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met) rs1225363387 0.00003
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419 0.00003
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577 0.00003
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe) rs920864493 0.00003
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503 0.00003
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210 0.00003
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532 0.00003
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys) rs768670979 0.00003
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785 0.00003
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp) rs141836800 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904 0.00003
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln) rs781909775 0.00003
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala) rs1556788859 0.00003
NM_003334.4(UBA1):c.2359G>A (p.Val787Met) rs1204889932 0.00003
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys) rs1466232811 0.00003
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys) rs1556786387 0.00003
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr) rs781969406 0.00003
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg) rs781803482 0.00003
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala) rs199759408 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile) rs1392561922 0.00003
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys) rs755450815 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu) rs761423892 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn) rs774986849 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 0.00003
NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln) rs142318791 0.00003
NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) rs759306485 0.00003
NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln) rs763378572 0.00003
NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys) rs150746209 0.00003
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) rs778201974 0.00003
NM_004082.5(DCTN1):c.2954A>G (p.Lys985Arg) rs751782015 0.00003
NM_004082.5(DCTN1):c.33+3A>G rs1397714640 0.00003
NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys) rs374419252 0.00003
NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala) rs757510484 0.00003
NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val) rs969899022 0.00003
NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys) rs538932463 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr) rs771966365 0.00003
NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala) rs371437767 0.00003
NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp) rs148810193 0.00003
NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg) rs770153273 0.00003
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp) rs756611519 0.00003
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) rs1456089445 0.00003
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) rs750394268 0.00003
NM_004960.4(FUS):c.1348C>T (p.Pro450Ser) rs201533156 0.00003
NM_004960.4(FUS):c.452C>T (p.Pro151Leu) rs144342946 0.00003
NM_004960.4(FUS):c.673G>A (p.Gly225Ser) rs551577399 0.00003
NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val) rs778074369 0.00003
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660 0.00003
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val) rs372101503 0.00003
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) rs777843655 0.00003
NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu) rs376650697 0.00003
NM_006308.3(HSPB3):c.67C>T (p.Arg23Ter) rs755999042 0.00003
NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys) rs949341803 0.00003
NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro) rs576205050 0.00003
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330 0.00003
NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly) rs770788678 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_013254.4(TBK1):c.1072C>T (p.Arg358Cys) rs780192375 0.00003
NM_013254.4(TBK1):c.1190T>C (p.Ile397Thr) rs755069538 0.00003
NM_013254.4(TBK1):c.2177T>C (p.Val726Ala) rs765585935 0.00003
NM_013254.4(TBK1):c.40A>G (p.Ile14Val) rs781325780 0.00003
NM_013254.4(TBK1):c.454G>C (p.Val152Leu) rs202011771 0.00003
NM_013254.4(TBK1):c.992C>T (p.Thr331Ile) rs200758840 0.00003
NM_013444.4(UBQLN2):c.1198A>G (p.Ser400Gly) rs781734842 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00003
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met) rs565320740 0.00003
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg) rs750375963 0.00003
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys) rs757346695 0.00003
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser) rs758675030 0.00003
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys) rs768516057 0.00003
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met) rs771928245 0.00003
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His) rs779612506 0.00003
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val) rs767686554 0.00003
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933 0.00003
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu) rs757727499 0.00003
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621 0.00003
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His) rs891527256 0.00003
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668 0.00003
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735 0.00003
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203 0.00003
NM_020631.6(PLEKHG5):c.784G>C (p.Ala262Pro) rs550362834 0.00003
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln) rs759306471 0.00003
NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter) rs751468033 0.00003
NM_021815.5(SLC5A7):c.1285G>A (p.Gly429Arg) rs764287242 0.00003
NM_021815.5(SLC5A7):c.1655C>A (p.Thr552Asn) rs748431280 0.00003
NM_021815.5(SLC5A7):c.463G>A (p.Val155Met) rs775903161 0.00003
NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys) rs1191969326 0.00003
NM_205836.3(FBXO38):c.1577G>A (p.Arg526Gln) rs376255193 0.00003
NM_205836.3(FBXO38):c.1688C>A (p.Pro563Gln) rs779538575 0.00003
NM_205836.3(FBXO38):c.173G>A (p.Arg58Gln) rs760456022 0.00003
NM_205836.3(FBXO38):c.1796A>C (p.Glu599Ala) rs781374639 0.00003
NM_205836.3(FBXO38):c.2201G>A (p.Gly734Asp) rs745545823 0.00003
NM_205836.3(FBXO38):c.2794A>G (p.Met932Val) rs372479730 0.00003
NM_205836.3(FBXO38):c.3439A>G (p.Met1147Val) rs550138374 0.00003
NM_205836.3(FBXO38):c.707C>A (p.Thr236Asn) rs370799682 0.00003
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155 0.00003
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.3294+5A>C rs370596012 0.00002
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00002
NM_000454.5(SOD1):c.149del (p.Glu50fs) rs752237082 0.00002
NM_000454.5(SOD1):c.448A>G (p.Ile150Val) rs1169917994 0.00002
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_001003800.2(BICD2):c.1341C>T (p.Gly447=) rs750241183 0.00002
NM_001003800.2(BICD2):c.1418G>A (p.Arg473His) rs766539334 0.00002
NM_001003800.2(BICD2):c.1488C>T (p.Arg496=) rs750614733 0.00002
NM_001003800.2(BICD2):c.346C>T (p.Arg116Trp) rs767127458 0.00002
NM_001003800.2(BICD2):c.365A>G (p.Gln122Arg) rs1477596230 0.00002
NM_001003800.2(BICD2):c.372G>T (p.Glu124Asp) rs1490576971 0.00002
NM_001003800.2(BICD2):c.478C>T (p.Arg160Cys) rs754493702 0.00002
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001008212.2(OPTN):c.1312G>A (p.Ala438Thr) rs768591421 0.00002
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val) rs900961302 0.00002
NM_001008212.2(OPTN):c.1546G>C (p.Glu516Gln) rs757107215 0.00002
NM_001008212.2(OPTN):c.287G>A (p.Arg96His) rs184561087 0.00002
NM_001008212.2(OPTN):c.407C>T (p.Ala136Val) rs764364218 0.00002
NM_001008212.2(OPTN):c.626+5del rs776938424 0.00002
NM_001008212.2(OPTN):c.882+3G>A rs761196996 0.00002
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) rs1004816448 0.00002
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) rs373649545 0.00002
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 0.00002
NM_002180.3(IGHMBP2):c.1552G>A (p.Val518Ile) rs373828321 0.00002
NM_002180.3(IGHMBP2):c.1597C>T (p.Arg533Cys) rs374185933 0.00002
NM_002180.3(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429 0.00002
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp) rs746014167 0.00002
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495 0.00002
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys) rs761885813 0.00002
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu) rs763014565 0.00002
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln) rs765230277 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser) rs757006949 0.00002
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932 0.00002
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser) rs774483778 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623 0.00002
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile) rs375694606 0.00002
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) rs374952782 0.00002
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met) rs745416724 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg) rs550631811 0.00002
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser) rs782429883 0.00002
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu) rs782051479 0.00002
NM_003334.4(UBA1):c.1117G>A (p.Val373Met) rs782354395 0.00002
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr) rs917269296 0.00002
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro) rs1028156593 0.00002
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln) rs1215231057 0.00002
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr) rs1556793806 0.00002
NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser) rs782451807 0.00002
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser) rs1164940967 0.00002
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala) rs781828163 0.00002
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln) rs782068633 0.00002
NM_003334.4(UBA1):c.741T>G (p.Phe247Leu) rs1556788006 0.00002
NM_003334.4(UBA1):c.781G>A (p.Gly261Arg) rs199512751 0.00002
NM_003334.4(UBA1):c.863G>A (p.Arg288His) rs782554153 0.00002
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn) rs1365209491 0.00002
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala) rs756589419 0.00002
NM_003384.3(VRK1):c.26C>T (p.Ala9Val) rs771269721 0.00002
NM_003384.3(VRK1):c.308G>A (p.Arg103His) rs779386449 0.00002
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00002
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val) rs772122047 0.00002
NM_003900.5(SQSTM1):c.1166-1G>A rs529512338 0.00002
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp) rs539942101 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser) rs748555662 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=) rs1449269769 0.00002
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe) rs763040103 0.00002
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00002
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val) rs755702835 0.00002
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys) rs548787835 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp) rs758625124 0.00002
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met) rs371832577 0.00002
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg) rs368010261 0.00002
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys) rs769873457 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro) rs745853858 0.00002
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser) rs1194274800 0.00002
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) rs148559402 0.00002
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu) rs376459756 0.00002
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) rs1367793899 0.00002
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr) rs777431896 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg) rs1299296008 0.00002
NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp) rs150368544 0.00002
NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr) rs922032527 0.00002
NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu) rs773897036 0.00002
NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys) rs756634587 0.00002
NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg) rs566433112 0.00002
NM_004082.5(DCTN1):c.1802G>C (p.Gly601Ala) rs370192633 0.00002
NM_004082.5(DCTN1):c.2006G>A (p.Arg669His) rs140523637 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile) rs753618444 0.00002
NM_004082.5(DCTN1):c.2303G>A (p.Arg768His) rs368869853 0.00002
NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys) rs771231109 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His) rs771075973 0.00002
NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala) rs753405772 0.00002
NM_004082.5(DCTN1):c.3107G>A (p.Arg1036His) rs762382952 0.00002
NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) rs573012389 0.00002
NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val) rs757034536 0.00002
NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys) rs121909345 0.00002
NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met) rs376549770 0.00002
NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu) rs975026607 0.00002
NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln) rs755013572 0.00002
NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His) rs560344779 0.00002
NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln) rs753892865 0.00002
NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) rs763427780 0.00002
NM_004738.5(VAPB):c.199A>G (p.Ile67Val) rs772975721 0.00002
NM_004960.4(FUS):c.1204_1206del (p.Ser402del) rs781120756 0.00002
NM_004960.4(FUS):c.238G>A (p.Gly80Ser) rs776474571 0.00002
NM_004960.4(FUS):c.317C>T (p.Pro106Leu) rs374191107 0.00002
NM_004960.4(FUS):c.716A>G (p.Tyr239Cys) rs145013063 0.00002
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg) rs990147591 0.00002
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp) rs780073328 0.00002
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) rs192644838 0.00002
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) rs532632647 0.00002
NM_006308.3(HSPB3):c.316G>A (p.Glu106Lys) rs761417751 0.00002
NM_006308.3(HSPB3):c.68G>A (p.Arg23Gln) rs780119257 0.00002
NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys) rs761058767 0.00002
NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg) rs1367297130 0.00002
NM_006736.6(DNAJB2):c.284C>A (p.Thr95Asn) rs1314160406 0.00002
NM_006736.6(DNAJB2):c.368T>C (p.Phe123Ser) rs757308369 0.00002
NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu) rs770337874 0.00002
NM_006736.6(DNAJB2):c.455C>G (p.Ser152Cys) rs777721164 0.00002
NM_006736.6(DNAJB2):c.544C>T (p.Arg182Cys) rs1055176141 0.00002
NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys) rs369758068 0.00002
NM_007126.5(VCP):c.233C>G (p.Ser78Cys) rs1252437282 0.00002
NM_007126.5(VCP):c.237T>A (p.Asp79Glu) rs746810092 0.00002
NM_007126.5(VCP):c.2397C>G (p.Asp799Glu) rs1329151473 0.00002
NM_007126.5(VCP):c.811+5G>C rs1356010891 0.00002
NM_013254.4(TBK1):c.1091G>A (p.Gly364Glu) rs748571947 0.00002
NM_013254.4(TBK1):c.1292C>T (p.Thr431Ile) rs1433610854 0.00002
NM_013254.4(TBK1):c.1717C>T (p.Arg573Cys) rs772820487 0.00002
NM_013254.4(TBK1):c.1751A>G (p.Lys584Arg) rs375610142 0.00002
NM_013254.4(TBK1):c.314A>G (p.Tyr105Cys) rs1366668789 0.00002
NM_013254.4(TBK1):c.802A>G (p.Ser268Gly) rs746971642 0.00002
NM_013444.4(UBQLN2):c.1474G>C (p.Val492Leu) rs756653207 0.00002
NM_013444.4(UBQLN2):c.21C>G (p.Ser7Arg) rs202132872 0.00002
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile) rs771168824 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala) rs748098389 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr) rs1314919388 0.00002
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro) rs772562504 0.00002
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr) rs774158046 0.00002
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr) rs749235364 0.00002
NM_018834.6(MATR3):c.620G>A (p.Arg207His) rs749335257 0.00002
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569 0.00002
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) rs199839017 0.00002
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met) rs376903637 0.00002
NM_020631.6(PLEKHG5):c.1643A>G (p.Tyr548Cys) rs749530565 0.00002
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val) rs761560984 0.00002
NM_020631.6(PLEKHG5):c.1826C>T (p.Thr609Met) rs553151077 0.00002
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met) rs768944520 0.00002
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331 0.00002
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys) rs776282542 0.00002
NM_020631.6(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436 0.00002
NM_020631.6(PLEKHG5):c.2216G>A (p.Arg739Gln) rs754583609 0.00002
NM_020631.6(PLEKHG5):c.2524C>T (p.Arg842Trp) rs770870023 0.00002
NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144 0.00002
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 0.00002
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser) rs573883242 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416 0.00002
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro) rs368905339 0.00002
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn) rs769576836 0.00002
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn) rs886471004 0.00002
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp) rs766490061 0.00002
NM_020631.6(PLEKHG5):c.767C>T (p.Ser256Phe) rs376782083 0.00002
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_021815.5(SLC5A7):c.1113+6A>G rs766515861 0.00002
NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile) rs763020957 0.00002
NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile) rs759833850 0.00002
NM_021815.5(SLC5A7):c.1487A>G (p.Tyr496Cys) rs1001889637 0.00002
NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe) rs780371731 0.00002
NM_021815.5(SLC5A7):c.472G>A (p.Asp158Asn) rs768776054 0.00002
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile) rs541031936 0.00002
NM_205836.3(FBXO38):c.1528G>A (p.Asp510Asn) rs187292361 0.00002
NM_205836.3(FBXO38):c.1540C>T (p.His514Tyr) rs191831422 0.00002
NM_205836.3(FBXO38):c.1618G>A (p.Ala540Thr) rs779438870 0.00002
NM_205836.3(FBXO38):c.1711C>T (p.Pro571Ser) rs766059420 0.00002
NM_205836.3(FBXO38):c.1759G>A (p.Val587Ile) rs553996394 0.00002
NM_205836.3(FBXO38):c.1777A>G (p.Ile593Val) rs780773753 0.00002
NM_205836.3(FBXO38):c.1985A>G (p.Gln662Arg) rs748950456 0.00002
NM_205836.3(FBXO38):c.2234A>T (p.Asp745Val) rs145266253 0.00002
NM_205836.3(FBXO38):c.2303C>G (p.Ala768Gly) rs142129179 0.00002
NM_205836.3(FBXO38):c.2689C>T (p.Arg897Trp) rs138967647 0.00002
NM_205836.3(FBXO38):c.3047A>G (p.Gln1016Arg) rs1020465041 0.00002
NM_205836.3(FBXO38):c.3130C>T (p.Arg1044Cys) rs1269391994 0.00002
NM_205836.3(FBXO38):c.3362G>A (p.Arg1121Gln) rs149713669 0.00002
NM_205836.3(FBXO38):c.506G>A (p.Arg169His) rs771708027 0.00002
NM_205836.3(FBXO38):c.625A>G (p.Met209Val) rs778733611 0.00002
NM_205836.3(FBXO38):c.91A>C (p.Asn31His) rs112086763 0.00002
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) rs1287389347 0.00002
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro) rs889489701 0.00002
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) rs766426370 0.00002
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu) rs1557232786 0.00001
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 0.00001
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg) rs1569549834 0.00001
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly) rs782528311 0.00001
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg) rs782396059 0.00001
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019 0.00001
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val) rs2077837721 0.00001
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly) rs782094714 0.00001
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg) rs1324162252 0.00001
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr) rs782807828 0.00001
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys) rs1557235740 0.00001
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg) rs782486797 0.00001
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln) rs2077996609 0.00001
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 0.00001
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile) rs962646396 0.00001
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160 0.00001
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=) rs1569550333 0.00001
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His) rs1204475767 0.00001
NM_000052.7(ATP7A):c.488A>G (p.His163Arg) rs1164298315 0.00001
NM_000052.7(ATP7A):c.548A>G (p.His183Arg) rs1186296000 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_001003800.2(BICD2):c.1024A>G (p.Ile342Val) rs777795062 0.00001
NM_001003800.2(BICD2):c.1165C>T (p.Arg389Cys) rs766132361 0.00001
NM_001003800.2(BICD2):c.133G>C (p.Glu45Gln) rs776420993 0.00001
NM_001003800.2(BICD2):c.1502G>A (p.Arg501Gln) rs398123032 0.00001
NM_001003800.2(BICD2):c.1542C>T (p.Gly514=) rs1240963153 0.00001
NM_001003800.2(BICD2):c.1556G>T (p.Ser519Ile) rs940304129 0.00001
NM_001003800.2(BICD2):c.1590C>A (p.Phe530Leu) rs1472200920 0.00001
NM_001003800.2(BICD2):c.1675G>A (p.Glu559Lys) rs759941912 0.00001
NM_001003800.2(BICD2):c.1693G>A (p.Gly565Ser) rs1302642659 0.00001
NM_001003800.2(BICD2):c.1777C>T (p.Pro593Ser) rs1375372433 0.00001
NM_001003800.2(BICD2):c.1790G>A (p.Arg597Gln) rs1412401979 0.00001
NM_001003800.2(BICD2):c.1804A>G (p.Thr602Ala) rs941771966 0.00001
NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) rs935505713 0.00001
NM_001003800.2(BICD2):c.1940G>A (p.Arg647His) rs774220760 0.00001
NM_001003800.2(BICD2):c.1975C>G (p.Gln659Glu) rs748802657 0.00001
NM_001003800.2(BICD2):c.2008G>A (p.Glu670Lys) rs372899268 0.00001
NM_001003800.2(BICD2):c.203A>G (p.Tyr68Cys) rs141519259 0.00001
NM_001003800.2(BICD2):c.2218G>A (p.Ala740Thr) rs1210812038 0.00001
NM_001003800.2(BICD2):c.2258+6C>T rs566572599 0.00001
NM_001003800.2(BICD2):c.2259G>A (p.Arg753=) rs921619761 0.00001
NM_001003800.2(BICD2):c.2272A>G (p.Ile758Val) rs766894803 0.00001
NM_001003800.2(BICD2):c.2306C>T (p.Ala769Val) rs773121830 0.00001
NM_001003800.2(BICD2):c.2347C>T (p.Arg783Cys) rs144944522 0.00001
NM_001003800.2(BICD2):c.2384G>A (p.Arg795Gln) rs1473987839 0.00001
NM_001003800.2(BICD2):c.2419C>T (p.Arg807Trp) rs778940849 0.00001
NM_001003800.2(BICD2):c.2428C>T (p.Arg810Cys) rs778218322 0.00001
NM_001003800.2(BICD2):c.2468G>A (p.Ser823Asn) rs1853279588 0.00001
NM_001003800.2(BICD2):c.2542G>A (p.Glu848Lys) rs766447651 0.00001
NM_001003800.2(BICD2):c.286G>A (p.Gly96Arg) rs749242497 0.00001
NM_001003800.2(BICD2):c.295C>T (p.Arg99Trp) rs751756270 0.00001
NM_001003800.2(BICD2):c.389A>G (p.Asn130Ser) rs142827536 0.00001
NM_001003800.2(BICD2):c.404C>T (p.Thr135Met) rs758588310 0.00001
NM_001003800.2(BICD2):c.454-4A>G rs1379719399 0.00001
NM_001003800.2(BICD2):c.527G>T (p.Arg176Leu) rs1207286970 0.00001
NM_001003800.2(BICD2):c.733G>A (p.Glu245Lys) rs371897802 0.00001
NM_001003800.2(BICD2):c.889G>A (p.Glu297Lys) rs770331418 0.00001
NM_001003800.2(BICD2):c.956C>T (p.Thr319Met) rs753891194 0.00001
NM_001003800.2(BICD2):c.986C>A (p.Ser329Tyr) rs761526161 0.00001
NM_001008212.2(OPTN):c.1174A>G (p.Thr392Ala) rs751226367 0.00001
NM_001008212.2(OPTN):c.1490C>G (p.Ala497Gly) rs956159636 0.00001
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) rs774245711 0.00001
NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn) rs1487584331 0.00001
NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys) rs756622651 0.00001
NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala) rs758942502 0.00001
NM_001008212.2(OPTN):c.481G>A (p.Val161Met) rs776058639 0.00001
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) rs199700857 0.00001
NM_001008212.2(OPTN):c.626+4T>C rs1564360523 0.00001
NM_001008212.2(OPTN):c.676T>C (p.Phe226Leu) rs1189662370 0.00001
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) rs775448931 0.00001
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) rs143727251 0.00001
NM_001008212.2(OPTN):c.882+5G>C rs766398912 0.00001
NM_001008212.2(OPTN):c.910C>T (p.Leu304Phe) rs1833407652 0.00001
NM_001008212.2(OPTN):c.950A>G (p.His317Arg) rs747365111 0.00001
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) rs145076368 0.00001
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn) rs1022216138 0.00001
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala) rs1033402228 0.00001
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser) rs1398038802 0.00001
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) rs372477029 0.00001
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295 0.00001
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954 0.00001
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) rs757304363 0.00001
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg) rs571142182 0.00001
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His) rs149628807 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg) rs751446350 0.00001
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725 0.00001
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334 0.00001
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405 0.00001
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His) rs373017768 0.00001
NM_002180.3(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718 0.00001
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile) rs768685672 0.00001
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1756+5G>A rs1352994155 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr) rs1240484547 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995 0.00001
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359 0.00001
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser) rs943195178 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893 0.00001
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) rs375023053 0.00001
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr) rs370166700 0.00001
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610 0.00001
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) rs1317117261 0.00001
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg) rs1566446312 0.00001
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886 0.00001
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln) rs767422655 0.00001
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) rs943141487 0.00001
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180 0.00001
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys) rs1042372226 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842 0.00001
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met) rs1462234845 0.00001
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser) rs771844457 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val) rs1444267409 0.00001
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) rs760946663 0.00001
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile) rs1317637789 0.00001
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser) rs543060051 0.00001
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro) rs769685389 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup) rs1267983821 0.00001
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser) rs1131691275 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742 0.00001
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr) rs149294713 0.00001
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala) rs766526224 0.00001
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile) rs748491290 0.00001
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr) rs763336691 0.00001
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp) rs557641477 0.00001
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947 0.00001
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229 0.00001
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747 0.00001
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys) rs1361120114 0.00001
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706 0.00001
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006 0.00001
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880 0.00001
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr) rs767665196 0.00001
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val) rs750539690 0.00001
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr) rs754051200 0.00001
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg) rs779086573 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr) rs768493454 0.00001
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr) rs774700020 0.00001
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn) rs899517052 0.00001
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His) rs758520241 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser) rs555235493 0.00001
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg) rs1323805346 0.00001
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) rs201726883 0.00001
NM_003334.4(UBA1):c.1014G>C (p.Gln338His) rs1157237217 0.00001
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe) rs1341394275 0.00001
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val) rs1556788826 0.00001
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met) rs1556790800 0.00001
NM_003334.4(UBA1):c.1710C>T (p.Gly570=) rs1556790843 0.00001
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln) rs1318594436 0.00001
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser) rs1556793160 0.00001
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg) rs868922840 0.00001
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln) rs782097752 0.00001
NM_003334.4(UBA1):c.2474G>A (p.Arg825His) rs781852793 0.00001
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn) rs782586380 0.00001
NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser) rs374003677 0.00001
NM_003334.4(UBA1):c.2575A>G (p.Met859Val) rs782649232 0.00001
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val) rs1351999233 0.00001
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala) rs782749176 0.00001
NM_003334.4(UBA1):c.2754G>C (p.Gln918His) rs782576505 0.00001
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr) rs1556794067 0.00001
NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys) rs781997101 0.00001
NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala) rs1556794528 0.00001
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys) rs782527493 0.00001
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys) rs782810802 0.00001
NM_003334.4(UBA1):c.34G>T (p.Val12Leu) rs982155788 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly) rs200692291 0.00001
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu) rs1409013948 0.00001
NM_003334.4(UBA1):c.97G>A (p.Val33Met) rs1449173671 0.00001
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln) rs145241983 0.00001
NM_003384.3(VRK1):c.1159+5G>C rs372052354 0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys) rs149083861 0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys) rs766501031 0.00001
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg) rs759541730 0.00001
NM_003384.3(VRK1):c.127A>G (p.Ile43Val) rs777420974 0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425 0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val) rs1237038231 0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu) rs1474265077 0.00001
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr) rs768889718 0.00001
NM_003384.3(VRK1):c.302G>A (p.Arg101His) rs372646027 0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg) rs1064796973 0.00001
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) rs387906830 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys) rs201936978 0.00001
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr) rs1888016669 0.00001
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe) rs1452833653 0.00001
NM_003384.3(VRK1):c.583T>G (p.Leu195Val) rs779770049 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp) rs1311364931 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln) rs1200170208 0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr) rs761905254 0.00001
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys) rs747692654 0.00001
NM_003384.3(VRK1):c.82A>G (p.Ile28Val) rs1210199221 0.00001
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly) rs1449338678 0.00001
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg) rs1310616396 0.00001
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg) rs1340163417 0.00001
NM_003384.3(VRK1):c.889+4G>C rs761286112 0.00001
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) rs781417955 0.00001
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys) rs535932454 0.00001
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser) rs776303544 0.00001
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val) rs1447276382 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys) rs1471403162 0.00001
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr) rs752910741 0.00001
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val) rs1241285995 0.00001
NM_003900.5(SQSTM1):c.205+6C>T rs1286712928 0.00001
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys) rs368853286 0.00001
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro) rs1208284061 0.00001
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His) rs766411872 0.00001
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys) rs1295820640 0.00001
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) rs1181188986 0.00001
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly) rs752438818 0.00001
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys) rs750784335 0.00001
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln) rs778554903 0.00001
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) rs771903158 0.00001
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val) rs1209470881 0.00001
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn) rs753212399 0.00001
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) rs1309887153 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp) rs1442832120 0.00001
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly) rs377198490 0.00001
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg) rs200731802 0.00001
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln) rs778537429 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu) rs1397353855 0.00001
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu) rs757778292 0.00001
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn) rs1325278483 0.00001
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu) rs1353365075 0.00001
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) rs778679611 0.00001
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr) rs745788957 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val) rs753685955 0.00001
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr) rs757493001 0.00001
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val) rs541356917 0.00001
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg) rs1460912506 0.00001
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) rs1225559170 0.00001
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser) rs1156716975 0.00001
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) rs755411592 0.00001
NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser) rs1674769234 0.00001
NM_004082.5(DCTN1):c.1105C>T (p.Arg369Cys) rs149499018 0.00001
NM_004082.5(DCTN1):c.1128-3C>G rs914567815 0.00001
NM_004082.5(DCTN1):c.1171C>A (p.Leu391Ile) rs1282851211 0.00001
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys) rs1040712616 0.00001
NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg) rs745458066 0.00001
NM_004082.5(DCTN1):c.1261A>G (p.Ser421Gly) rs1417901024 0.00001
NM_004082.5(DCTN1):c.1288-6A>G rs1236101222 0.00001
NM_004082.5(DCTN1):c.1364G>A (p.Arg455His) rs763277715 0.00001
NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser) rs756081164 0.00001
NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp) rs759801622 0.00001
NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val) rs761331951 0.00001
NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp) rs184840910 0.00001
NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys) rs1327106238 0.00001
NM_004082.5(DCTN1):c.1505G>A (p.Arg502His) rs780066070 0.00001
NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met) rs967117932 0.00001
NM_004082.5(DCTN1):c.1594C>G (p.Arg532Gly) rs563630664 0.00001
NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg) rs4994503 0.00001
NM_004082.5(DCTN1):c.1774A>G (p.Met592Val) rs778331682 0.00001
NM_004082.5(DCTN1):c.177C>T (p.Gly59=) rs72466484 0.00001
NM_004082.5(DCTN1):c.1780G>C (p.Asp594His) rs1200525088 0.00001
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn) rs1243051229 0.00001
NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln) rs779723221 0.00001
NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile) rs375778151 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp) rs764568642 0.00001
NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp) rs1674555206 0.00001
NM_004082.5(DCTN1):c.2083C>T (p.His695Tyr) rs756952260 0.00001
NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu) rs1309359471 0.00001
NM_004082.5(DCTN1):c.2253+4A>T rs1674495774 0.00001
NM_004082.5(DCTN1):c.2296C>T (p.Arg766Trp) rs766338463 0.00001
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln) rs200611961 0.00001
NM_004082.5(DCTN1):c.2315A>G (p.Gln772Arg) rs1648520142 0.00001
NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser) rs1266701728 0.00001
NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly) rs752889408 0.00001
NM_004082.5(DCTN1):c.2384G>A (p.Arg795His) rs377530504 0.00001
NM_004082.5(DCTN1):c.2396A>G (p.Lys799Arg) rs773793200 0.00001
NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln) rs1443384895 0.00001
NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met) rs1313684238 0.00001
NM_004082.5(DCTN1):c.2467G>A (p.Val823Ile) rs753992154 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro) rs777542005 0.00001
NM_004082.5(DCTN1):c.258C>T (p.Gly86=) rs140054458 0.00001
NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr) rs72466488 0.00001
NM_004082.5(DCTN1):c.2622C>T (p.Ser874=) rs1367060889 0.00001
NM_004082.5(DCTN1):c.2639C>T (p.Thr880Ile) rs758789274 0.00001
NM_004082.5(DCTN1):c.2660A>C (p.Glu887Ala) rs1166896176 0.00001
NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys) rs767379191 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp) rs758168607 0.00001
NM_004082.5(DCTN1):c.2795G>A (p.Arg932His) rs767725965 0.00001
NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys) rs780644304 0.00001
NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met) rs754893423 0.00001
NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp) rs756183069 0.00001
NM_004082.5(DCTN1):c.2969G>A (p.Arg990His) rs369129714 0.00001
NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu) rs746148076 0.00001
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp) rs764918482 0.00001
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) rs759276455 0.00001
NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter) rs376996779 0.00001
NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met) rs764028925 0.00001
NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) rs201918007 0.00001
NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu) rs1274754432 0.00001
NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala) rs749776779 0.00001
NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln) rs749196418 0.00001
NM_004082.5(DCTN1):c.3322C>G (p.Gln1108Glu) rs374567374 0.00001
NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr) rs1191490257 0.00001
NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val) rs534309303 0.00001
NM_004082.5(DCTN1):c.3448C>T (p.Arg1150Cys) rs1194029274 0.00001
NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His) rs771822061 0.00001
NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile) rs373550911 0.00001
NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly) rs1180149480 0.00001
NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His) rs554008879 0.00001
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu) rs778307537 0.00001
NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr) rs748860016 0.00001
NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala) rs745657856 0.00001
NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met) rs752784218 0.00001
NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr) rs773727370 0.00001
NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser) rs772655253 0.00001
NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp) rs768025820 0.00001
NM_004082.5(DCTN1):c.414+6G>A rs767853891 0.00001
NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter) rs781290307 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln) rs1359633006 0.00001
NM_004082.5(DCTN1):c.458C>T (p.Thr153Met) rs1052858105 0.00001
NM_004082.5(DCTN1):c.461G>A (p.Arg154His) rs1398619239 0.00001
NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu) rs1064797035 0.00001
NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu) rs916359967 0.00001
NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu) rs765192491 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu) rs1461654392 0.00001
NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln) rs1411382364 0.00001
NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn) rs539287431 0.00001
NM_004082.5(DCTN1):c.821G>A (p.Arg274Gln) rs1379544377 0.00001
NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys) rs775294408 0.00001
NM_004082.5(DCTN1):c.843+5G>T rs757238618 0.00001
NM_004082.5(DCTN1):c.844-5C>G rs1435999777 0.00001
NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp) rs1042083899 0.00001
NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) rs751177222 0.00001
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) rs748371538 0.00001
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) rs1475473253 0.00001
NM_004738.5(VAPB):c.315A>G (p.Val105=) rs757744162 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 0.00001
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg) rs773800478 0.00001
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) rs772254840 0.00001
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) rs1989149258 0.00001
NM_004738.5(VAPB):c.622A>G (p.Ile208Val) rs376121617 0.00001
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) rs1989222522 0.00001
NM_004960.4(FUS):c.*108C>T rs780606789 0.00001
NM_004960.4(FUS):c.1147C>T (p.Arg383Cys) rs776191869 0.00001
NM_004960.4(FUS):c.1168+6G>C rs750980752 0.00001
NM_004960.4(FUS):c.1394G>A (p.Gly465Glu) rs141684472 0.00001
NM_004960.4(FUS):c.1544G>T (p.Gly515Val) rs1307257028 0.00001
NM_004960.4(FUS):c.181A>G (p.Ser61Gly) rs1481060391 0.00001
NM_004960.4(FUS):c.182G>A (p.Ser61Asn) rs777365216 0.00001
NM_004960.4(FUS):c.265T>A (p.Ser89Thr) rs372638663 0.00001
NM_004960.4(FUS):c.688G>T (p.Gly230Cys) rs748374535 0.00001
NM_004960.4(FUS):c.701G>A (p.Arg234His) rs749434237 0.00001
NM_005866.4(SIGMAR1):c.*51G>T rs768783740 0.00001
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser) rs777565671 0.00001
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) rs773344340 0.00001
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) rs1278952640 0.00001
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) rs1241574813 0.00001
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) rs778413865 0.00001
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met) rs745503254 0.00001
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) rs202244713 0.00001
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser) rs1411120179 0.00001
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) rs149409262 0.00001
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn) rs892812356 0.00001
NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met) rs1396152845 0.00001
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) rs541996857 0.00001
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) rs754118993 0.00001
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro) rs1254998914 0.00001
NM_006308.3(HSPB3):c.194G>A (p.Arg65Gln) rs371683736 0.00001
NM_006308.3(HSPB3):c.246del (p.Glu83fs) rs772319292 0.00001
NM_006308.3(HSPB3):c.322G>A (p.Gly108Ser) rs369890201 0.00001
NM_006736.6(DNAJB2):c.156A>G (p.Ala52=) rs748638654 0.00001
NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp) rs747378005 0.00001
NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp) rs773179867 0.00001
NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp) rs763649673 0.00001
NM_006736.6(DNAJB2):c.265G>A (p.Gly89Arg) rs1951909003 0.00001
NM_006736.6(DNAJB2):c.290G>A (p.Arg97His) rs545130842 0.00001
NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala) rs763591754 0.00001
NM_006736.6(DNAJB2):c.345G>C (p.Glu115Asp) rs541289584 0.00001
NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln) rs778575500 0.00001
NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val) rs1340065979 0.00001
NM_006736.6(DNAJB2):c.469T>G (p.Phe157Val) rs755622620 0.00001
NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile) rs780605624 0.00001
NM_006736.6(DNAJB2):c.494G>A (p.Arg165His) rs769095774 0.00001
NM_006736.6(DNAJB2):c.530G>A (p.Arg177His) rs762985004 0.00001
NM_006736.6(DNAJB2):c.533G>A (p.Arg178His) rs202123709 0.00001
NM_006736.6(DNAJB2):c.559A>T (p.Asn187Tyr) rs1487966162 0.00001
NM_006736.6(DNAJB2):c.622G>A (p.Val208Ile) rs752078357 0.00001
NM_006736.6(DNAJB2):c.659G>A (p.Arg220His) rs769850234 0.00001
NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys) rs201861589 0.00001
NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys) rs750175376 0.00001
NM_006736.6(DNAJB2):c.742G>A (p.Asp248Asn) rs1442415535 0.00001
NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln) rs1018405924 0.00001
NM_007126.5(VCP):c.1162A>G (p.Met388Val) rs761895823 0.00001
NM_007126.5(VCP):c.1211A>C (p.His404Pro) rs1359620830 0.00001
NM_007126.5(VCP):c.1294C>G (p.Leu432Val) rs771751916 0.00001
NM_007126.5(VCP):c.130-3C>T rs767838037 0.00001
NM_007126.5(VCP):c.1327A>C (p.Asn443His) rs770514866 0.00001
NM_007126.5(VCP):c.1402G>A (p.Val468Met) rs779392075 0.00001
NM_007126.5(VCP):c.1459C>T (p.Arg487Cys) rs752765916 0.00001
NM_007126.5(VCP):c.1768A>G (p.Ile590Val) rs1255802734 0.00001
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr) rs1284380722 0.00001
NM_007126.5(VCP):c.1985G>A (p.Arg662His) rs762185724 0.00001
NM_007126.5(VCP):c.1996G>A (p.Val666Ile) rs754268174 0.00001
NM_007126.5(VCP):c.2126G>A (p.Arg709Gln) rs746617777 0.00001
NM_007126.5(VCP):c.2132G>A (p.Arg711Gln) rs779670266 0.00001
NM_007126.5(VCP):c.2194C>T (p.Arg732Cys) rs758602597 0.00001
NM_007126.5(VCP):c.303-3C>T rs1183711292 0.00001
NM_007126.5(VCP):c.331G>A (p.Gly111Ser) rs752038734 0.00001
NM_007126.5(VCP):c.335A>G (p.Lys112Arg) rs766787045 0.00001
NM_007126.5(VCP):c.41C>T (p.Thr14Ile) rs1219381953 0.00001
NM_007126.5(VCP):c.451A>G (p.Ile151Val) rs367881889 0.00001
NM_007126.5(VCP):c.62A>G (p.Asn21Ser) rs1409460709 0.00001
NM_007126.5(VCP):c.697A>G (p.Ile233Val) rs750335399 0.00001
NM_007126.5(VCP):c.73C>T (p.Arg25Trp) rs920962883 0.00001
NM_007375.4(TARDBP):c.1015A>G (p.Met339Val) rs1162800752 0.00001
NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp) rs80356741 0.00001
NM_007375.4(TARDBP):c.227A>G (p.Asn76Ser) rs142913423 0.00001
NM_007375.4(TARDBP):c.550C>A (p.Gln184Lys) rs956150244 0.00001
NM_007375.4(TARDBP):c.925G>A (p.Gly309Ser) rs1419402299 0.00001
NM_013254.4(TBK1):c.1037T>C (p.Ile346Thr) rs763874949 0.00001
NM_013254.4(TBK1):c.1150C>T (p.Arg384Trp) rs753595352 0.00001
NM_013254.4(TBK1):c.1443A>T (p.Val481=) rs1396706988 0.00001
NM_013254.4(TBK1):c.1505A>G (p.His502Arg) rs1206925876 0.00001
NM_013254.4(TBK1):c.1619A>T (p.Glu540Val) rs768023625 0.00001
NM_013254.4(TBK1):c.301C>G (p.Pro101Ala) rs371955059 0.00001
NM_013254.4(TBK1):c.380G>A (p.Arg127Gln) rs1337698475 0.00001
NM_013254.4(TBK1):c.437G>C (p.Gly146Ala) rs41292021 0.00001
NM_013254.4(TBK1):c.51A>G (p.Gln17=) rs769584803 0.00001
NM_013254.4(TBK1):c.683G>A (p.Arg228His) rs748622208 0.00001
NM_013254.4(TBK1):c.734C>T (p.Ala245Val) rs751890932 0.00001
NM_013254.4(TBK1):c.829C>G (p.Leu277Val) rs905184241 0.00001
NM_013254.4(TBK1):c.962C>T (p.Ala321Val) rs762705031 0.00001
NM_013444.4(UBQLN2):c.1274A>G (p.Gln425Arg) rs1243726473 0.00001
NM_013444.4(UBQLN2):c.1595G>A (p.Gly532Asp) rs1343347647 0.00001
NM_013444.4(UBQLN2):c.1714G>A (p.Ala572Thr) rs1293533801 0.00001
NM_013444.4(UBQLN2):c.1727C>A (p.Pro576Gln) rs1569254665 0.00001
NM_013444.4(UBQLN2):c.808C>T (p.Arg270Cys) rs1330837640 0.00001
NM_013444.4(UBQLN2):c.82G>C (p.Ala28Pro) rs1459753673 0.00001
NM_014043.4(CHMP2B):c.126+4A>G rs369912013 0.00001
NM_014043.4(CHMP2B):c.176A>G (p.Lys59Arg) rs143800051 0.00001
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu) rs745754634 0.00001
NM_014043.4(CHMP2B):c.205C>T (p.Arg69Trp) rs553846327 0.00001
NM_014043.4(CHMP2B):c.28G>A (p.Val10Met) rs1295215037 0.00001
NM_014043.4(CHMP2B):c.545C>T (p.Pro182Leu) rs369257752 0.00001
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala) rs999767103 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1438G>T (p.Val480Leu) rs377301250 0.00001
NM_015046.7(SETX):c.167T>C (p.Phe56Ser) rs1032816797 0.00001
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala) rs957434595 0.00001
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu) rs1015257691 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2749A>C (p.Met917Leu) rs761943404 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn) rs1846998334 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp) rs1297541939 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg) rs778111855 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr) rs772466321 0.00001
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser) rs916634082 0.00001
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu) rs1362908917 0.00001
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met) rs1466879487 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5431G>A (p.Val1811Met) rs947336270 0.00001
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile) rs763771426 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5661A>G (p.Gln1887=) rs1589671916 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.598A>G (p.Ile200Val) rs1368588434 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met) rs148041889 0.00001
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp) rs1843269972 0.00001
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu) rs781671592 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr) rs1842557730 0.00001
NM_015046.7(SETX):c.823G>A (p.Glu275Lys) rs901741485 0.00001
NM_015046.7(SETX):c.865G>A (p.Ala289Thr) rs775579797 0.00001
NM_015046.7(SETX):c.980A>T (p.Glu327Val) rs1315992594 0.00001
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln) rs748839685 0.00001
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser) rs948428305 0.00001
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser) rs1755320528 0.00001
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys) rs1291862870 0.00001
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr) rs779612686 0.00001
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala) rs781213918 0.00001
NM_018834.6(MATR3):c.1435-10T>C rs772340385 0.00001
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu) rs777025841 0.00001
NM_018834.6(MATR3):c.1636A>G (p.Met546Val) rs1412628714 0.00001
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile) rs748592981 0.00001
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala) rs587777301 0.00001
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr) rs1488614478 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 0.00001
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del) rs1186297721 0.00001
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr) rs1176347654 0.00001
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val) rs1261252930 0.00001
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu) rs1228960452 0.00001
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu) rs759928245 0.00001
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys) rs764645698 0.00001
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser) rs1468138513 0.00001
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly) rs538917496 0.00001
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser) rs1452954379 0.00001
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg) rs765284792 0.00001
NM_018834.6(MATR3):c.2372-3dup rs1561945483 0.00001
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr) rs912142064 0.00001
NM_018834.6(MATR3):c.256A>G (p.Ile86Val) rs201277902 0.00001
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys) rs1327023414 0.00001
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser) rs745440760 0.00001
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly) rs1255035245 0.00001
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr) rs1433371817 0.00001
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys) rs587777300 0.00001
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu) rs761842979 0.00001
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe) rs200871699 0.00001
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala) rs774478774 0.00001
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn) rs762374587 0.00001
NM_018834.6(MATR3):c.898G>A (p.Val300Ile) rs1307308858 0.00001
NM_018834.6(MATR3):c.960G>T (p.Gln320His) rs773617455 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln) rs61743372 0.00001
NM_020631.6(PLEKHG5):c.1081-3C>T rs772519809 0.00001
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406 0.00001
NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn) rs372434052 0.00001
NM_020631.6(PLEKHG5):c.1131+5G>T rs1293986972 0.00001
NM_020631.6(PLEKHG5):c.1139C>T (p.Ala380Val) rs374286001 0.00001
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly) rs1327802744 0.00001
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly) rs1644589733 0.00001
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg) rs755513110 0.00001
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys) rs1271841187 0.00001
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe) rs779799130 0.00001
NM_020631.6(PLEKHG5):c.1267A>G (p.Lys423Glu) rs1297083613 0.00001
NM_020631.6(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495 0.00001
NM_020631.6(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030 0.00001
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118 0.00001
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys) rs200086651 0.00001
NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met) rs777612808 0.00001
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450 0.00001
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala) rs1180280762 0.00001
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly) rs1382976948 0.00001
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815 0.00001
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg) rs779791612 0.00001
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg) rs768323924 0.00001
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745 0.00001
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654 0.00001
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965 0.00001
NM_020631.6(PLEKHG5):c.1558C>T (p.Arg520Cys) rs999436825 0.00001
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln) rs1022969911 0.00001
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047 0.00001
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln) rs752167528 0.00001
NM_020631.6(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026 0.00001
NM_020631.6(PLEKHG5):c.1681-3C>T rs370601982 0.00001
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690 0.00001
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys) rs765998625 0.00001
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala) rs781318885 0.00001
NM_020631.6(PLEKHG5):c.1933+4A>G rs754759840 0.00001
NM_020631.6(PLEKHG5):c.1934-4C>G rs951050550 0.00001
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala) rs749072819 0.00001
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp) rs1644501019 0.00001
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile) rs779425195 0.00001
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser) rs936501984 0.00001
NM_020631.6(PLEKHG5):c.211-3C>T rs754653668 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772 0.00001
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His) rs779969203 0.00001
NM_020631.6(PLEKHG5):c.2411C>T (p.Pro804Leu) rs1400722803 0.00001
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser) rs1175956588 0.00001
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045 0.00001
NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237 0.00001
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935 0.00001
NM_020631.6(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys) rs557256913 0.00001
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe) rs756639742 0.00001
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn) rs769702301 0.00001
NM_020631.6(PLEKHG5):c.2683C>G (p.Pro895Ala) rs753662166 0.00001
NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016 0.00001
NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513 0.00001
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe) rs993754184 0.00001
NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760 0.00001
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg) rs1407992685 0.00001
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu) rs1436307319 0.00001
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr) rs1404826523 0.00001
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg) rs755699992 0.00001
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651 0.00001
NM_020631.6(PLEKHG5):c.292A>G (p.Lys98Glu) rs770771316 0.00001
NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val) rs150133974 0.00001
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter) rs772171318 0.00001
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) rs762876171 0.00001
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val) rs1360003341 0.00001
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380 0.00001
NM_020631.6(PLEKHG5):c.3011+3G>A rs929173295 0.00001
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys) rs768676402 0.00001
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) rs762546636 0.00001
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg) rs371931309 0.00001
NM_020631.6(PLEKHG5):c.47C>G (p.Ser16Cys) rs201090415 0.00001
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu) rs1644685170 0.00001
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala) rs531190324 0.00001
NM_020631.6(PLEKHG5):c.538C>T (p.Pro180Ser) rs752485682 0.00001
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys) rs760118221 0.00001
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp) rs776026198 0.00001
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His) rs939508255 0.00001
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg) rs1428031986 0.00001
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg) rs1253304988 0.00001
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320 0.00001
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala) rs1348491680 0.00001
NM_020631.6(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543 0.00001
NM_020631.6(PLEKHG5):c.746G>A (p.Arg249His) rs1172862216 0.00001
NM_020631.6(PLEKHG5):c.835A>G (p.Thr279Ala) rs376817987 0.00001
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg) rs569434019 0.00001
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu) rs998963899 0.00001
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103 0.00001
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val) rs1356599252 0.00001
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470 0.00001
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly) rs145340974 0.00001
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys) rs148745591 0.00001
NM_020631.6(PLEKHG5):c.931A>C (p.Asn311His) rs146020517 0.00001
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr) rs763262703 0.00001
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp) rs761456870 0.00001
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln) rs769390222 0.00001
NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu) rs769383404 0.00001
NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr) rs1225811300 0.00001
NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly) rs771965968 0.00001
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu) rs776949424 0.00001
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu) rs765428136 0.00001
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly) rs750242187 0.00001
NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys) rs760447400 0.00001
NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala) rs770628227 0.00001
NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu) rs770003632 0.00001
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln) rs1677318394 0.00001
NM_021815.5(SLC5A7):c.13G>A (p.Val5Met) rs759997671 0.00001
NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val) rs1248009607 0.00001
NM_021815.5(SLC5A7):c.1444C>T (p.Leu482Phe) rs370223910 0.00001
NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe) rs532174786 0.00001
NM_021815.5(SLC5A7):c.1484C>G (p.Ser495Cys) rs1446927168 0.00001
NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile) rs140863834 0.00001
NM_021815.5(SLC5A7):c.1613A>G (p.Lys538Arg) rs1288760672 0.00001
NM_021815.5(SLC5A7):c.1628C>A (p.Ala543Glu) rs751068657 0.00001
NM_021815.5(SLC5A7):c.1642C>T (p.Arg548Ter) rs199636877 0.00001
NM_021815.5(SLC5A7):c.1672dup (p.Thr558fs) rs748711877 0.00001
NM_021815.5(SLC5A7):c.1718C>T (p.Ser573Phe) rs374245840 0.00001
NM_021815.5(SLC5A7):c.1722G>T (p.Gly574=) rs762662680 0.00001
NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val) rs751087167 0.00001
NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His) rs748862220 0.00001
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe) rs1172822464 0.00001
NM_021815.5(SLC5A7):c.319C>T (p.Arg107Cys) rs1265189648 0.00001
NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val) rs911790588 0.00001
NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val) rs764663527 0.00001
NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr) rs1057353436 0.00001
NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys) rs757211775 0.00001
NM_021815.5(SLC5A7):c.382G>A (p.Gly128Arg) rs1222306029 0.00001
NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe) rs748901270 0.00001
NM_021815.5(SLC5A7):c.534G>A (p.Val178=) rs1573601177 0.00001
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn) rs763744412 0.00001
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val) rs1351029450 0.00001
NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala) rs1035258430 0.00001
NM_021815.5(SLC5A7):c.698A>G (p.Asp233Gly) rs1677927626 0.00001
NM_021815.5(SLC5A7):c.704C>G (p.Ser235Cys) rs755576066 0.00001
NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe) rs778161682 0.00001
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu) rs1370287710 0.00001
NM_205836.3(FBXO38):c.1012T>G (p.Ser338Ala) rs1051684244 0.00001
NM_205836.3(FBXO38):c.1022A>G (p.Lys341Arg) rs889149643 0.00001
NM_205836.3(FBXO38):c.1327G>C (p.Asp443His) rs1318477469 0.00001
NM_205836.3(FBXO38):c.1531A>G (p.Asn511Asp) rs746674990 0.00001
NM_205836.3(FBXO38):c.1567A>C (p.Asn523His) rs1468271814 0.00001
NM_205836.3(FBXO38):c.157A>G (p.Met53Val) rs1361110357 0.00001
NM_205836.3(FBXO38):c.1591C>G (p.Pro531Ala) rs928826029 0.00001
NM_205836.3(FBXO38):c.1698C>A (p.Ser566Arg) rs375251121 0.00001
NM_205836.3(FBXO38):c.1705A>G (p.Ile569Val) rs772345898 0.00001
NM_205836.3(FBXO38):c.1729G>C (p.Glu577Gln) rs759341101 0.00001
NM_205836.3(FBXO38):c.1757G>A (p.Arg586His) rs369833842 0.00001
NM_205836.3(FBXO38):c.1852G>A (p.Gly618Ser) rs750086990 0.00001
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln) rs766830490 0.00001
NM_205836.3(FBXO38):c.1880A>G (p.Glu627Gly) rs1376821948 0.00001
NM_205836.3(FBXO38):c.1996G>A (p.Glu666Lys) rs770649145 0.00001
NM_205836.3(FBXO38):c.2053A>G (p.Met685Val) rs775906161 0.00001
NM_205836.3(FBXO38):c.2062G>A (p.Ala688Thr) rs913559304 0.00001
NM_205836.3(FBXO38):c.206G>A (p.Arg69Gln) rs761704413 0.00001
NM_205836.3(FBXO38):c.2156A>G (p.Asn719Ser) rs1027079492 0.00001
NM_205836.3(FBXO38):c.2189C>T (p.Thr730Met) rs767223993 0.00001
NM_205836.3(FBXO38):c.2203G>A (p.Gly735Ser) rs779561720 0.00001
NM_205836.3(FBXO38):c.2295G>T (p.Glu765Asp) rs966952897 0.00001
NM_205836.3(FBXO38):c.2309G>A (p.Ser770Asn) rs1485057991 0.00001
NM_205836.3(FBXO38):c.239G>A (p.Arg80Gln) rs751167811 0.00001
NM_205836.3(FBXO38):c.2402G>A (p.Arg801Gln) rs751618541 0.00001
NM_205836.3(FBXO38):c.2423C>T (p.Pro808Leu) rs757209133 0.00001
NM_205836.3(FBXO38):c.2433G>A (p.Thr811=) rs368967979 0.00001
NM_205836.3(FBXO38):c.2695C>T (p.Arg899Trp) rs755084155 0.00001
NM_205836.3(FBXO38):c.2711C>A (p.Ser904Tyr) rs1014349605 0.00001
NM_205836.3(FBXO38):c.2801A>G (p.Asn934Ser) rs1463668452 0.00001
NM_205836.3(FBXO38):c.2837C>G (p.Pro946Arg) rs144849921 0.00001
NM_205836.3(FBXO38):c.286A>G (p.Thr96Ala) rs1185057010 0.00001
NM_205836.3(FBXO38):c.2898T>G (p.Asn966Lys) rs148580014 0.00001
NM_205836.3(FBXO38):c.2995C>T (p.Arg999Cys) rs760782381 0.00001
NM_205836.3(FBXO38):c.3024+5C>T rs781235057 0.00001
NM_205836.3(FBXO38):c.3163A>G (p.Ile1055Val) rs1399229383 0.00001
NM_205836.3(FBXO38):c.3236C>A (p.Pro1079His) rs757930681 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
NM_205836.3(FBXO38):c.338G>A (p.Arg113Gln) rs1201701262 0.00001
NM_205836.3(FBXO38):c.3390C>A (p.Ser1130Arg) rs1203605915 0.00001
NM_205836.3(FBXO38):c.3391A>C (p.Thr1131Pro) rs1561551063 0.00001
NM_205836.3(FBXO38):c.340T>C (p.Tyr114His) rs144375164 0.00001
NM_205836.3(FBXO38):c.3428C>T (p.Ala1143Val) rs1554083508 0.00001
NM_205836.3(FBXO38):c.3471G>A (p.Met1157Ile) rs764469305 0.00001
NM_205836.3(FBXO38):c.3482A>C (p.Lys1161Thr) rs997254848 0.00001
NM_205836.3(FBXO38):c.3506T>C (p.Val1169Ala) rs1754718621 0.00001
NM_205836.3(FBXO38):c.409G>A (p.Ala137Thr) rs749305250 0.00001
NM_205836.3(FBXO38):c.529A>G (p.Ile177Val) rs560664064 0.00001
NM_205836.3(FBXO38):c.652G>A (p.Val218Ile) rs747805838 0.00001
NM_205836.3(FBXO38):c.694A>G (p.Ile232Val) rs1453234833 0.00001
NM_205836.3(FBXO38):c.812G>A (p.Arg271Gln) rs896205714 0.00001
NM_205836.3(FBXO38):c.86A>G (p.Tyr29Cys) rs775196268 0.00001
NM_205836.3(FBXO38):c.871G>A (p.Gly291Ser) rs1752601122 0.00001
NM_205836.3(FBXO38):c.915T>G (p.Asn305Lys) rs767430187 0.00001
NM_205836.3(FBXO38):c.959G>A (p.Arg320His) rs756850214 0.00001
NM_205836.3(FBXO38):c.962+3A>G rs779258103 0.00001
NM_205836.3(FBXO38):c.988T>A (p.Ser330Thr) rs764932115 0.00001
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser) rs1259379217 0.00001
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg) rs945463572 0.00001
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) rs751472303 0.00001
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) rs542541060 0.00001
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) rs780959799 0.00001
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe) rs1358742335 0.00001
NM_213720.3(CHCHD10):c.408T>C (p.His136=) rs113677828 0.00001
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) rs1197865297 0.00001
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val) rs1244878740 0.00001
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser) rs1297070374 0.00001
NC_000001.10:g.(?_6527623)_(6537631_?)dup
NC_000002.11:g.(?_108604592)_(108627337_?)dup
NC_000002.11:g.(?_108604612)_(108604809_?)del
NC_000002.11:g.(?_108604612)_(108609603_?)del
NC_000002.11:g.(?_108604612)_(108627317_?)del
NC_000002.11:g.(?_108604612)_(108627317_?)dup
NC_000002.11:g.(?_220144556)_(220150719_?)dup
NC_000002.11:g.(?_220150706)_(220290732_?)dup
NC_000002.11:g.(?_74588271)_(74607174_?)del
NC_000002.11:g.(?_74588626)_(74607164_?)dup
NC_000002.11:g.(?_74597072)_(74607164_?)dup
NC_000002.12:g.(?_107988146)_(108010871_?)dup
NC_000002.12:g.(?_107988146)_(108963283_?)del
NC_000002.12:g.(?_107988146)_(108963283_?)dup
NC_000002.12:g.74371167CCT[3]
NC_000003.11:g.(?_87276673)_(87325612_?)del
NC_000005.10:g.(?_148394767)_(148406404_?)dup
NC_000005.10:g.(?_179836426)_(179836603_?)del
NC_000005.10:g.(?_54455780)_(54456252_?)del
NC_000005.9:g.(?_138608441)_(138668366_?)del
NC_000005.9:g.(?_138643105)_(138644036_?)dup
NC_000005.9:g.(?_138643105)_(138665084_?)dup
NC_000005.9:g.(?_147762498)_(147823399_?)del
NC_000005.9:g.(?_178413111)_(179263593_?)dup
NC_000005.9:g.(?_178770758)_(179263603_?)dup
NC_000005.9:g.(?_179260012)_(179260802_?)del
NC_000005.9:g.(?_179260567)_(179263593_?)dup
NC_000005.9:g.(?_179263416)_(179263593_?)del
NC_000005.9:g.(?_53751620)_(53752072_?)dup
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.11:g.(?_32453279)_(35068379_?)dup
NC_000009.11:g.(?_32453279)_(37785041_?)dup
NC_000009.11:g.(?_34458984)_(36277059_?)dup
NC_000009.11:g.(?_34458994)_(35072710_?)dup
NC_000009.11:g.(?_94794747)_(95527026_?)del
NC_000009.11:g.(?_95477699)_(95479322_?)del
NC_000009.11:g.(?_95526777)_(95527036_?)del
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NC_000010.10:g.(?_13151123)_(13154655_?)dup
NC_000010.10:g.(?_13158247)_(13169923_?)dup
NC_000010.10:g.(?_13160868)_(13161060_?)del
NC_000010.10:g.(?_13160868)_(13161060_?)dup
NC_000010.11:g.(?_13118878)_(13119050_?)del
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000016.10:g.(?_31182388)_(31194881_?)dup
NC_000016.10:g.31184376GAGGTG[6]
NC_000020.10:g.(?_57009638)_(57019291_?)dup
NC_000020.11:g.(?_58389109)_(58389527_?)del
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24108194)_(24108482_?)del
NC_000022.10:g.(?_24109541)_(24110061_?)del
NC_000022.10:g.(?_24109541)_(24110081_?)del
NC_000022.11:g.(?_23765824)_(23767603_?)del
NC_000022.11:g.(?_23767364)_(23767982_?)del
NC_000023.10:g.(?_47058202)_(47074328_?)del
NC_000023.10:g.(?_47058202)_(47074328_?)dup
NC_000023.10:g.(?_76888675)_(77264780_?)dup
NC_000023.10:g.(?_77150786)_(77289339_?)dup
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77227129)_(77302077_?)dup
NC_000023.10:g.(?_77227139)_(77381327_?)dup
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77264579)_(77264780_?)dup
NC_000023.10:g.(?_77264589)_(77264770_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77266663)_(77268619_?)dup
NC_000023.10:g.(?_77270149)_(77305902_?)dup
NC_000023.10:g.(?_77275721)_(77381327_?)dup
NC_000023.10:g.(?_77275731)_(77302067_?)dup
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_77298795)_(77302067_?)dup
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met) rs2149083240
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg) rs2149083331
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
NM_000052.7(ATP7A):c.121-14T>G
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu) rs2149083480
NM_000052.7(ATP7A):c.1336+3A>G
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala) rs2149087825
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg) rs2077719880
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr) rs2149087885
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln) rs2077752247
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
NM_000052.7(ATP7A):c.1708-19A>G
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe) rs2149093499
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly) rs2077799245
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val) rs2149093524
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val) rs782386693
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val) rs2149093539
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp) rs2077547692
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) rs2149093552
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
NM_000052.7(ATP7A):c.1869+4A>G
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu) rs2149094957
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala) rs2077822914
NM_000052.7(ATP7A):c.1945_1946+2dup rs2077822992
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu)
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile)
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle) rs1569549885
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe) rs2077826335
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu) rs1557234537
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr) rs2077650482
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) rs1569549892
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
NM_000052.7(ATP7A):c.2172+2C>T rs2077827112
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg) rs2077837052
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His) rs2149095977
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe) rs1569549929
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu) rs2077838145
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met) rs2077838404
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
NM_000052.7(ATP7A):c.2406+6G>A rs782307719
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val) rs781879594
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2499-3C>T rs2077858280
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly) rs2149082599
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr) rs2149097408
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
NM_000052.7(ATP7A):c.2626+5G>T rs2149097418
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr)
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) rs2149099719
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
NM_000052.7(ATP7A):c.2781+5C>T
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile) rs2077902319
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr) rs1557235719
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
NM_000052.7(ATP7A):c.2916+11T>G
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly) rs2077967548
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.305A>G (p.His102Arg) rs1253495703
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
NM_000052.7(ATP7A):c.3111+6A>G rs2077968712
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala) rs2077983152
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg) rs2077983527
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser) rs2149106147
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile) rs2149106178
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser) rs2149107164
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe) rs2077995918
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr) rs2077996076
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn) rs2149107203
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His) rs2149107206
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr) rs782588862
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val)
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser) rs2078030949
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
NM_000052.7(ATP7A):c.3658+4A>T
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys) rs2149110482
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser) rs2078041778
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr) rs2078042001
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile) rs932523090
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu) rs371441365
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala) rs2149112223
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr) rs2149112238
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys) rs2078062220
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser) rs2149082684
NM_000052.7(ATP7A):c.4124-3T>C
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile) rs2149113528
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala) rs2149113564
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile) rs2149113574
NM_000052.7(ATP7A):c.4226+6T>G
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly) rs2149113944
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly) rs149079962
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly) rs2149113979
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly) rs2149113992
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu) rs2149113995
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe)
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu) rs147848649
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr) rs2149114118
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu) rs2149114133
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met) rs2149082707
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala) rs1557231656
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln) rs897502448
NM_000052.7(ATP7A):c.611-5A>G rs1557231730
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) rs2149083027
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr) rs2149083046
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr) rs2077548143
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr) rs2149083058
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr) rs2077656822
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser) rs868946047
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met) rs2149073867
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser) rs2149083198
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) rs2077548318
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
NM_000344.4(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.4(SMN1):c.841A>G (p.Arg281Gly)
NM_000344.4(SMN1):c.855_858del (p.Arg288fs) rs1475940018
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
NM_000344.4(SMN1):c.862A>G (p.Arg288Gly)
NM_000344.4(SMN1):c.862A>T (p.Arg288Trp)
NM_000344.4(SMN1):c.885A>G (p.Ter295=)
NM_000454.5(SOD1):c.*273_*276del rs906761540
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe) rs1057524474
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup) rs2123431926
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys) rs1568809178
NM_000454.5(SOD1):c.16G>A (p.Val6Met)
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
NM_000454.5(SOD1):c.17T>C (p.Val6Ala) rs2123427988
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly) rs1457291290
NM_000454.5(SOD1):c.216C>G (p.His72Gln) rs368042695
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg) rs1555836720
NM_000454.5(SOD1):c.240-3T>C
NM_000454.5(SOD1):c.25C>G (p.Leu9Val) rs1568807333
NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
NM_000454.5(SOD1):c.287C>T (p.Ala96Val) rs1568810690
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del) rs2123435528
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg) rs1568810758
NM_000454.5(SOD1):c.326_328del (p.Gly109del) rs2123435554
NM_000454.5(SOD1):c.357+2dup
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) rs1568811423
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu) rs1568811464
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser) rs121912449
NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)
NM_000454.5(SOD1):c.56T>C (p.Ile19Thr) rs1601153438
NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)
NM_000454.5(SOD1):c.72+20C>T
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn) rs2123431867
NM_001003800.2(BICD2):c.1027T>G (p.Ser343Ala)
NM_001003800.2(BICD2):c.1053G>T (p.Gln351His) rs2131502057
NM_001003800.2(BICD2):c.1058T>C (p.Met353Thr)
NM_001003800.2(BICD2):c.1062+5G>A
NM_001003800.2(BICD2):c.1062G>T (p.Gln354His)
NM_001003800.2(BICD2):c.1063-7T>A rs1853416488
NM_001003800.2(BICD2):c.1063A>G (p.Met355Val) rs767226677
NM_001003800.2(BICD2):c.1063A>T (p.Met355Leu) rs767226677
NM_001003800.2(BICD2):c.1070G>A (p.Arg357Gln)
NM_001003800.2(BICD2):c.1094C>A (p.Thr365Lys)
NM_001003800.2(BICD2):c.10_12dup (p.Pro4_Ser5insPro)
NM_001003800.2(BICD2):c.1108C>A (p.Gln370Lys)
NM_001003800.2(BICD2):c.1110G>C (p.Gln370His)
NM_001003800.2(BICD2):c.1123C>G (p.His375Asp)
NM_001003800.2(BICD2):c.1132G>T (p.Gly378Cys)
NM_001003800.2(BICD2):c.1133G>C (p.Gly378Ala) rs1440404997
NM_001003800.2(BICD2):c.1153G>A (p.Glu385Lys)
NM_001003800.2(BICD2):c.1168C>T (p.Leu390Phe) rs192669216
NM_001003800.2(BICD2):c.1174G>A (p.Glu392Lys)
NM_001003800.2(BICD2):c.1185T>A (p.Ser395Arg)
NM_001003800.2(BICD2):c.1189C>G (p.Leu397Val) rs1853411761
NM_001003800.2(BICD2):c.1193G>A (p.Arg398Gln)
NM_001003800.2(BICD2):c.11C>G (p.Pro4Arg)
NM_001003800.2(BICD2):c.1204G>A (p.Ala402Thr)
NM_001003800.2(BICD2):c.1204_1221del (p.Ala402_Gln407del)
NM_001003800.2(BICD2):c.1217G>A (p.Arg406Gln)
NM_001003800.2(BICD2):c.1257T>G (p.His419Gln) rs774663157
NM_001003800.2(BICD2):c.1262A>T (p.Asp421Val)
NM_001003800.2(BICD2):c.1265G>A (p.Gly422Glu) rs2131501032
NM_001003800.2(BICD2):c.1273T>C (p.Tyr425His) rs1853407945
NM_001003800.2(BICD2):c.1276G>A (p.Glu426Lys) rs184465241
NM_001003800.2(BICD2):c.1291G>A (p.Gly431Arg) rs780600581
NM_001003800.2(BICD2):c.1295C>T (p.Pro432Leu)
NM_001003800.2(BICD2):c.1312A>C (p.Lys438Gln) rs1587669231
NM_001003800.2(BICD2):c.1335G>A (p.Glu445=) rs1853406194
NM_001003800.2(BICD2):c.1342G>A (p.Glu448Lys)
NM_001003800.2(BICD2):c.1369C>A (p.Arg457Ser) rs376220375
NM_001003800.2(BICD2):c.1372A>G (p.Ser458Gly) rs1853404911
NM_001003800.2(BICD2):c.1375A>G (p.Thr459Ala)
NM_001003800.2(BICD2):c.1397A>G (p.Gln466Arg)
NM_001003800.2(BICD2):c.1400A>G (p.His467Arg) rs1564060261
NM_001003800.2(BICD2):c.1402G>A (p.Ala468Thr)
NM_001003800.2(BICD2):c.1405G>A (p.Glu469Lys)
NM_001003800.2(BICD2):c.1414G>A (p.Gly472Ser) rs1853403012
NM_001003800.2(BICD2):c.1429G>C (p.Glu477Gln) rs372840233
NM_001003800.2(BICD2):c.1451A>C (p.Lys484Thr) rs2131500709
NM_001003800.2(BICD2):c.1463T>C (p.Leu488Pro) rs1587668983
NM_001003800.2(BICD2):c.1478_1479delinsTT (p.Arg493Leu) rs1587668960
NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys) rs1457844438
NM_001003800.2(BICD2):c.1501C>G (p.Arg501Gly)
NM_001003800.2(BICD2):c.1510_1512del (p.Lys504del) rs1554705506
NM_001003800.2(BICD2):c.1517T>C (p.Leu506Pro)
NM_001003800.2(BICD2):c.1533C>A (p.Asp511Glu)
NM_001003800.2(BICD2):c.1541G>T (p.Gly514Val)
NM_001003800.2(BICD2):c.1561A>G (p.Ser521Gly) rs1286725301
NM_001003800.2(BICD2):c.1564G>A (p.Val522Met) rs1853397128
NM_001003800.2(BICD2):c.1582G>A (p.Val528Met) rs908773556
NM_001003800.2(BICD2):c.1582G>T (p.Val528Leu) rs908773556
NM_001003800.2(BICD2):c.1592G>T (p.Ser531Ile) rs1287163670
NM_001003800.2(BICD2):c.1607A>G (p.Asn536Ser)
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
NM_001003800.2(BICD2):c.1627A>T (p.Met543Leu)
NM_001003800.2(BICD2):c.1631G>A (p.Cys544Tyr) rs1853395351
NM_001003800.2(BICD2):c.1637A>G (p.Asn546Ser) rs1370503586
NM_001003800.2(BICD2):c.163C>G (p.His55Asp) rs1854442288
NM_001003800.2(BICD2):c.1652G>A (p.Arg551His)
NM_001003800.2(BICD2):c.1655T>C (p.Val552Ala)
NM_001003800.2(BICD2):c.1672C>T (p.Arg558Cys) rs1351684855
NM_001003800.2(BICD2):c.1673G>T (p.Arg558Leu)
NM_001003800.2(BICD2):c.1675_1698del (p.Glu559_Arg566del)
NM_001003800.2(BICD2):c.1679G>A (p.Gly560Asp)
NM_001003800.2(BICD2):c.1688G>A (p.Gly563Glu)
NM_001003800.2(BICD2):c.16GAG[3] (p.Glu9del) rs751269137
NM_001003800.2(BICD2):c.16GAG[5] (p.Glu9_Tyr10insGlu)
NM_001003800.2(BICD2):c.1703G>C (p.Ser568Thr)
NM_001003800.2(BICD2):c.1704_1721del (p.Gly570_Pro575del)
NM_001003800.2(BICD2):c.1704_1721dup (p.Gly570_Pro575dup) rs998616675
NM_001003800.2(BICD2):c.1709_1726del (p.Gly570_Pro575del) rs1333312158
NM_001003800.2(BICD2):c.1718C>G (p.Thr573Ser)
NM_001003800.2(BICD2):c.1724C>A (p.Pro575His)
NM_001003800.2(BICD2):c.1730C>T (p.Ala577Val)
NM_001003800.2(BICD2):c.1732C>G (p.Arg578Gly)
NM_001003800.2(BICD2):c.1732del (p.Arg578fs) rs1554705455
NM_001003800.2(BICD2):c.1736G>A (p.Gly579Asp)
NM_001003800.2(BICD2):c.1766G>A (p.Gly589Glu)
NM_001003800.2(BICD2):c.1784C>T (p.Ala595Val)
NM_001003800.2(BICD2):c.1787G>T (p.Gly596Val) rs1377173037
NM_001003800.2(BICD2):c.1798G>T (p.Gly600Cys)
NM_001003800.2(BICD2):c.1817G>A (p.Ser606Asn) rs897077465
NM_001003800.2(BICD2):c.181T>C (p.Phe61Leu)
NM_001003800.2(BICD2):c.1849C>G (p.Leu617Val) rs990859311
NM_001003800.2(BICD2):c.1858C>A (p.Pro620Thr)
NM_001003800.2(BICD2):c.1862G>A (p.Arg621His)
NM_001003800.2(BICD2):c.1865G>A (p.Arg622Gln)
NM_001003800.2(BICD2):c.1883A>G (p.Tyr628Cys) rs1853383567
NM_001003800.2(BICD2):c.1903C>G (p.Arg635Gly)
NM_001003800.2(BICD2):c.1904G>A (p.Arg635His)
NM_001003800.2(BICD2):c.1914C>G (p.Ile638Met)
NM_001003800.2(BICD2):c.1922T>C (p.Leu641Pro) rs1554705383
NM_001003800.2(BICD2):c.1928C>T (p.Ala643Val)
NM_001003800.2(BICD2):c.1957C>T (p.Arg653Cys)
NM_001003800.2(BICD2):c.1958G>A (p.Arg653His)
NM_001003800.2(BICD2):c.1964G>T (p.Arg655Leu)
NM_001003800.2(BICD2):c.1978G>A (p.Glu660Lys) rs1853379869
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001003800.2(BICD2):c.1997A>C (p.Asp666Ala) rs1587668190
NM_001003800.2(BICD2):c.1A>C (p.Met1Leu) rs2131542823
NM_001003800.2(BICD2):c.2017A>G (p.Met673Val)
NM_001003800.2(BICD2):c.2021A>G (p.Glu674Gly)
NM_001003800.2(BICD2):c.2057A>T (p.Lys686Met) rs1587668129
NM_001003800.2(BICD2):c.2058G>C (p.Lys686Asn)
NM_001003800.2(BICD2):c.2065C>G (p.Gln689Glu)
NM_001003800.2(BICD2):c.2066A>G (p.Gln689Arg) rs1554705339
NM_001003800.2(BICD2):c.2086G>C (p.Val696Leu)
NM_001003800.2(BICD2):c.2106+6G>C rs201184890
NM_001003800.2(BICD2):c.2107-3C>T
NM_001003800.2(BICD2):c.2109G>A (p.Thr703=)
NM_001003800.2(BICD2):c.212T>C (p.Ile71Thr) rs2131542548
NM_001003800.2(BICD2):c.2158G>A (p.Ala720Thr)
NM_001003800.2(BICD2):c.2161A>G (p.Met721Val)
NM_001003800.2(BICD2):c.2170G>A (p.Glu724Lys)
NM_001003800.2(BICD2):c.2173A>T (p.Thr725Ser) rs2131498763
NM_001003800.2(BICD2):c.2181G>T (p.Met727Ile)
NM_001003800.2(BICD2):c.2189G>T (p.Arg730Leu) rs943974428
NM_001003800.2(BICD2):c.2209A>G (p.Lys737Glu) rs2131498684
NM_001003800.2(BICD2):c.2209_2211del (p.Lys737del) rs2131498680
NM_001003800.2(BICD2):c.2219C>T (p.Ala740Val)
NM_001003800.2(BICD2):c.2224_2226dup (p.Thr742dup) rs1554705227
NM_001003800.2(BICD2):c.2227_2228delinsAC (p.Phe743Thr) rs1853349102
NM_001003800.2(BICD2):c.2234C>T (p.Ser745Leu)
NM_001003800.2(BICD2):c.2258+757_2305del
NM_001003800.2(BICD2):c.2259-3C>T
NM_001003800.2(BICD2):c.225G>T (p.Met75Ile) rs1854440556
NM_001003800.2(BICD2):c.2285A>T (p.Asp762Val) rs1853288605
NM_001003800.2(BICD2):c.2294A>G (p.Gln765Arg) rs1853288308
NM_001003800.2(BICD2):c.2297G>A (p.Arg766Gln) rs1216459221
NM_001003800.2(BICD2):c.2314G>A (p.Glu772Lys)
NM_001003800.2(BICD2):c.2329A>G (p.Thr777Ala) rs1587666004
NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp) rs756421767
NM_001003800.2(BICD2):c.238G>T (p.Glu80Ter)
NM_001003800.2(BICD2):c.2398G>C (p.Glu800Gln)
NM_001003800.2(BICD2):c.241G>C (p.Ala81Pro)
NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln) rs1564057942
NM_001003800.2(BICD2):c.2422C>T (p.Arg808Cys) rs143189118
NM_001003800.2(BICD2):c.2431G>A (p.Ala811Thr)
NM_001003800.2(BICD2):c.2440G>A (p.Ala814Thr)
NM_001003800.2(BICD2):c.2470G>C (p.Val824Leu) rs774445661
NM_001003800.2(BICD2):c.247G>A (p.Gly83Arg) rs1587675774
NM_001003800.2(BICD2):c.2485G>A (p.Ala829Thr) rs1853278571
NM_001003800.2(BICD2):c.2510G>T (p.Gly837Val)
NM_001003800.2(BICD2):c.2527C>T (p.Gln843Ter)
NM_001003800.2(BICD2):c.253G>A (p.Ala85Thr)
NM_001003800.2(BICD2):c.2545A>C (p.Lys849Gln) rs1412613776
NM_001003800.2(BICD2):c.2547G>T (p.Lys849Asn)
NM_001003800.2(BICD2):c.2563G>A (p.Asp855Asn)
NM_001003800.2(BICD2):c.260C>G (p.Thr87Arg)
NM_001003800.2(BICD2):c.27G>C (p.Glu9Asp) rs2131542772
NM_001003800.2(BICD2):c.301G>A (p.Glu101Lys) rs1554706635
NM_001003800.2(BICD2):c.305G>T (p.Ser102Ile) rs1853629682
NM_001003800.2(BICD2):c.334C>G (p.Gln112Glu)
NM_001003800.2(BICD2):c.346C>G (p.Arg116Gly)
NM_001003800.2(BICD2):c.35_52dup (p.Ala17_Gln18insArgLeuValMetGluAla)
NM_001003800.2(BICD2):c.368_369delinsTT (p.Thr123Ile)
NM_001003800.2(BICD2):c.386G>A (p.Arg129His) rs780485203
NM_001003800.2(BICD2):c.38T>G (p.Leu13Arg) rs1340902320
NM_001003800.2(BICD2):c.398C>T (p.Thr133Ile)
NM_001003800.2(BICD2):c.421C>T (p.Arg141Cys)
NM_001003800.2(BICD2):c.422G>A (p.Arg141His)
NM_001003800.2(BICD2):c.422G>T (p.Arg141Leu)
NM_001003800.2(BICD2):c.454A>T (p.Ile152Phe) rs1853491424
NM_001003800.2(BICD2):c.458A>T (p.Asn153Ile) rs2131504307
NM_001003800.2(BICD2):c.464A>G (p.Asn155Ser) rs1853491158
NM_001003800.2(BICD2):c.479G>A (p.Arg160His)
NM_001003800.2(BICD2):c.479G>T (p.Arg160Leu)
NM_001003800.2(BICD2):c.503A>C (p.Lys168Thr)
NM_001003800.2(BICD2):c.50C>A (p.Ala17Glu)
NM_001003800.2(BICD2):c.527G>A (p.Arg176His) rs1207286970
NM_001003800.2(BICD2):c.545C>T (p.Ser182Leu)
NM_001003800.2(BICD2):c.56C>T (p.Pro19Leu)
NM_001003800.2(BICD2):c.578A>C (p.Lys193Thr)
NM_001003800.2(BICD2):c.587C>T (p.Ser196Phe) rs1853487156
NM_001003800.2(BICD2):c.58G>C (p.Glu20Gln) rs780000539
NM_001003800.2(BICD2):c.598C>G (p.Gln200Glu)
NM_001003800.2(BICD2):c.59A>G (p.Glu20Gly)
NM_001003800.2(BICD2):c.619G>A (p.Gly207Ser)
NM_001003800.2(BICD2):c.623T>C (p.Leu208Pro) rs1853448827
NM_001003800.2(BICD2):c.64C>G (p.Leu22Val) rs758212511
NM_001003800.2(BICD2):c.656C>G (p.Thr219Ser) rs370390769
NM_001003800.2(BICD2):c.681G>T (p.Glu227Asp)
NM_001003800.2(BICD2):c.684T>A (p.Asp228Glu)
NM_001003800.2(BICD2):c.705C>G (p.Ile235Met) rs1183367895
NM_001003800.2(BICD2):c.710A>G (p.Glu237Gly) rs2131502641
NM_001003800.2(BICD2):c.725A>G (p.Glu242Gly) rs369298186
NM_001003800.2(BICD2):c.735G>C (p.Glu245Asp) rs2131502587
NM_001003800.2(BICD2):c.739C>A (p.Leu247Met)
NM_001003800.2(BICD2):c.766del (p.Ser256fs)
NM_001003800.2(BICD2):c.778G>T (p.Glu260Ter) rs1445458188
NM_001003800.2(BICD2):c.793A>C (p.Met265Leu) rs779331320
NM_001003800.2(BICD2):c.809C>T (p.Ser270Phe) rs375710311
NM_001003800.2(BICD2):c.812_814del (p.Phe271del)
NM_001003800.2(BICD2):c.82C>T (p.Arg28Trp)
NM_001003800.2(BICD2):c.833T>C (p.Val278Ala) rs1853441867
NM_001003800.2(BICD2):c.85C>G (p.Leu29Val)
NM_001003800.2(BICD2):c.862G>A (p.Asp288Asn)
NM_001003800.2(BICD2):c.864T>A (p.Asp288Glu)
NM_001003800.2(BICD2):c.868G>A (p.Ala290Thr)
NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) rs1271142551
NM_001003800.2(BICD2):c.877AAC[1] (p.Asn294del)
NM_001003800.2(BICD2):c.881A>T (p.Asn294Ile)
NM_001003800.2(BICD2):c.89C>G (p.Ser30Cys) rs1271773744
NM_001003800.2(BICD2):c.8C>T (p.Ala3Val)
NM_001003800.2(BICD2):c.902A>G (p.Asn301Ser) rs2131502289
NM_001003800.2(BICD2):c.911A>G (p.Glu304Gly)
NM_001003800.2(BICD2):c.913C>T (p.His305Tyr)
NM_001003800.2(BICD2):c.914A>G (p.His305Arg) rs1480204082
NM_001003800.2(BICD2):c.91C>T (p.His31Tyr) rs1554709923
NM_001003800.2(BICD2):c.953C>T (p.Ser318Phe)
NM_001003800.2(BICD2):c.961AAG[1] (p.Lys322del)
NM_001003800.2(BICD2):c.976G>C (p.Ala326Pro)
NM_001003800.2(BICD2):c.989C>A (p.Pro330His) rs1564060970
NM_001003800.2(BICD2):c.989C>G (p.Pro330Arg)
NM_001008212.2(OPTN):c.1006G>T (p.Ala336Ser) rs1248850820
NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)
NM_001008212.2(OPTN):c.1022A>T (p.Asn341Ile)
NM_001008212.2(OPTN):c.1088T>C (p.Leu363Pro)
NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)
NM_001008212.2(OPTN):c.1132A>G (p.Lys378Glu)
NM_001008212.2(OPTN):c.1197_1198inv (p.His400Tyr)
NM_001008212.2(OPTN):c.1220T>C (p.Ile407Thr)
NM_001008212.2(OPTN):c.1229T>C (p.Leu410Pro)
NM_001008212.2(OPTN):c.1242+6C>T rs906152658
NM_001008212.2(OPTN):c.1250A>C (p.Lys417Thr)
NM_001008212.2(OPTN):c.1298C>T (p.Ala433Val)
NM_001008212.2(OPTN):c.1319A>G (p.Lys440Arg)
NM_001008212.2(OPTN):c.1333G>C (p.Asp445His)
NM_001008212.2(OPTN):c.1340T>G (p.Met447Arg) rs1045159479
NM_001008212.2(OPTN):c.1352T>C (p.Ile451Thr)
NM_001008212.2(OPTN):c.1402-3C>G rs1588452749
NM_001008212.2(OPTN):c.1447G>C (p.Glu483Gln) rs2131528196
NM_001008212.2(OPTN):c.1456C>T (p.His486Tyr)
NM_001008212.2(OPTN):c.1457A>G (p.His486Arg)
NM_001008212.2(OPTN):c.1465A>G (p.Lys489Glu) rs1363384405
NM_001008212.2(OPTN):c.1468G>A (p.Glu490Lys)
NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) rs1564354765
NM_001008212.2(OPTN):c.1509T>G (p.Asn503Lys)
NM_001008212.2(OPTN):c.1510G>T (p.Asp504Tyr)
NM_001008212.2(OPTN):c.1556G>A (p.Ser519Asn)
NM_001008212.2(OPTN):c.1558C>T (p.Arg520Cys)
NM_001008212.2(OPTN):c.1558dup (p.Arg520fs)
NM_001008212.2(OPTN):c.1583_1584del (p.Asp527_Ser528insTer) rs1446908199
NM_001008212.2(OPTN):c.1613-1G>A
NM_001008212.2(OPTN):c.1613-3C>T rs2131534998
NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) rs967459877
NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)
NM_001008212.2(OPTN):c.1627_1628delinsCT (p.Asp543Leu) rs2131535039
NM_001008212.2(OPTN):c.1636C>T (p.Gln546Ter)
NM_001008212.2(OPTN):c.1642C>T (p.Arg548Trp) rs767360238
NM_001008212.2(OPTN):c.1666C>T (p.Pro556Ser)
NM_001008212.2(OPTN):c.1670A>C (p.Lys557Thr)
NM_001008212.2(OPTN):c.1670A>G (p.Lys557Arg)
NM_001008212.2(OPTN):c.1688C>T (p.Pro563Leu)
NM_001008212.2(OPTN):c.1691A>G (p.Asp564Gly)
NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)
NM_001008212.2(OPTN):c.1704A>C (p.Leu568Phe)
NM_001008212.2(OPTN):c.1705C>T (p.Gln569Ter) rs1275810602
NM_001008212.2(OPTN):c.1714G>A (p.Val572Met)
NM_001008212.2(OPTN):c.1718T>C (p.Met573Thr) rs1564370960
NM_001008212.2(OPTN):c.1724G>A (p.Cys575Tyr)
NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)
NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)
NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)
NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)
NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)
NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)
NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)
NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)
NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)
NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)
NM_001008212.2(OPTN):c.377C>A (p.Thr126Asn)
NM_001008212.2(OPTN):c.385T>C (p.Ser129Pro) rs369071606
NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)
NM_001008212.2(OPTN):c.398G>C (p.Arg133Thr) rs1269604352
NM_001008212.2(OPTN):c.404A>C (p.Glu135Ala) rs372714385
NM_001008212.2(OPTN):c.412C>A (p.Gln138Lys)
NM_001008212.2(OPTN):c.433A>G (p.Thr145Ala)
NM_001008212.2(OPTN):c.440T>A (p.Val147Glu)
NM_001008212.2(OPTN):c.463G>T (p.Ala155Ser)
NM_001008212.2(OPTN):c.489A>T (p.Glu163Asp) rs113811959
NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)
NM_001008212.2(OPTN):c.536T>A (p.Val179Asp)
NM_001008212.2(OPTN):c.553-6_553-5delinsGT
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
NM_001008212.2(OPTN):c.591T>G (p.His197Gln)
NM_001008212.2(OPTN):c.598G>A (p.Gly200Arg)
NM_001008212.2(OPTN):c.609A>T (p.Arg203Ser) rs1833208430
NM_001008212.2(OPTN):c.616T>G (p.Ser206Ala)
NM_001008212.2(OPTN):c.626C>T (p.Thr209Met)
NM_001008212.2(OPTN):c.635C>A (p.Ser212Tyr) rs1450047435
NM_001008212.2(OPTN):c.644G>A (p.Arg215Lys)
NM_001008212.2(OPTN):c.669G>T (p.Lys223Asn)
NM_001008212.2(OPTN):c.679G>A (p.Glu227Lys)
NM_001008212.2(OPTN):c.701G>A (p.Ser234Asn)
NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) rs760339006
NM_001008212.2(OPTN):c.76C>A (p.His26Asn)
NM_001008212.2(OPTN):c.76C>G (p.His26Asp)
NM_001008212.2(OPTN):c.779+8A>G
NM_001008212.2(OPTN):c.779G>A (p.Arg260Lys)
NM_001008212.2(OPTN):c.780-3C>T
NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)
NM_001008212.2(OPTN):c.847G>C (p.Glu283Gln) rs1833371043
NM_001008212.2(OPTN):c.882+5G>A
NM_001008212.2(OPTN):c.892G>A (p.Glu298Lys) rs1833407271
NM_001008212.2(OPTN):c.949C>G (p.His317Asp) rs1387105883
NM_001008212.2(OPTN):c.953C>G (p.Thr318Arg)
NM_001008212.2(OPTN):c.97G>C (p.Asp33His)
NM_001008212.2(OPTN):c.980A>G (p.Lys327Arg)
NM_001008212.2(OPTN):c.985A>G (p.Arg329Gly) rs1564364468
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu) rs199586231
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del) rs1858730437
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg) rs1368446033
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe) rs2154008237
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg) rs1768499175
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe) rs2154008241
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg) rs2154008248
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu) rs1859389487
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His) rs2154008602
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn) rs1859394402
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
NM_002180.3(IGHMBP2):c.1418+5G>A
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg) rs764111837
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg) rs1049595127
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala) rs772984773
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr) rs1859418981
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile) rs926718557
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.3(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.3(IGHMBP2):c.1564A>G (p.Ile522Val) rs1859447330
NM_002180.3(IGHMBP2):c.1568A>G (p.Gln523Arg) rs1594452962
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) rs1178878248
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu) rs1859480727
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys) rs2154008764
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr) rs7122089
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val) rs1859483901
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala) rs2154006539
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile) rs1566445855
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala) rs777841793
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile) rs779182888
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser) rs753926352
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg) rs377743886
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp) rs1859535346
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val) rs1859535801
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr) rs1859535898
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr) rs746334377
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu) rs536678728
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val) rs1042285874
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg) rs1859546493
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr) rs766802836
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser) rs760161861
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser) rs1464851091
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu) rs779854653
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala) rs2154006546
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg) rs755843076
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn) rs766051417
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu) rs753639706
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup) rs2154008959
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg) rs1859576991
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala) rs914944175
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr) rs1386297763
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) rs1064796817
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) rs145945230
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His) rs148605058
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.3(IGHMBP2):c.2785-3C>G rs1859669997
NM_002180.3(IGHMBP2):c.2785-3C>T rs1859669997
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg) rs751847212
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser) rs1859672618
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys) rs775514650
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val) rs1859674357
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn) rs2154009288
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg) rs1858277137
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys) rs865849237
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser) rs2154009308
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val) rs886048608
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro) rs1271968797
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr) rs1858278685
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr) rs1858281719
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) rs1004055119
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His) rs1004055119
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro) rs1594418365
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met) rs1858294631
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser) rs1566425176
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His) rs1280728139
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile) rs369509318
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg) rs752135303
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) rs863224881
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala) rs1858437723
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg) rs2154006946
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val) rs1858583764
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala) rs775600808
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr) rs1555243999
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met) rs1284064613
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg) rs1566430083
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr) rs2154007219
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile) rs2154007221
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly) rs759987473
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg) rs763867470
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
NM_002180.3(IGHMBP2):c.912+4G>C
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln) rs201177129
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn) rs1858724192
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) rs1858726463
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys) rs759353094
NM_003334.4(UBA1):c.1011C>G (p.His337Gln) rs1044559809
NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)
NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys) rs1556788657
NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys) rs2147260047
NM_003334.4(UBA1):c.106G>A (p.Val36Met) rs990805894
NM_003334.4(UBA1):c.1089G>T (p.Gln363His)
NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)
NM_003334.4(UBA1):c.1094T>C (p.Val365Ala) rs2147260730
NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr) rs2147260791
NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val) rs782051479
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys) rs1936465009
NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr) rs1556788813
NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)
NM_003334.4(UBA1):c.118-11_118-3del rs2147250233
NM_003334.4(UBA1):c.118-1G>C rs2147250287
NM_003334.4(UBA1):c.118-2A>C rs2147250283
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003334.4(UBA1):c.1233+9G>A
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser) rs1936478450
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly) rs1936479502
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn) rs782565391
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr) rs1602635435
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn) rs2147263751
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)
NM_003334.4(UBA1):c.1617G>A (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln) rs1556790802
NM_003334.4(UBA1):c.1673G>A (p.Arg558His) rs782746954
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe) rs2147250370
NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr) rs2147273137
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser) rs1556790852
NM_003334.4(UBA1):c.1741+15G>A
NM_003334.4(UBA1):c.1742-3C>T
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys) rs1556791125
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)
NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)
NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)
NM_003334.4(UBA1):c.1939-11_1939-3del rs1936835385
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp) rs2147286332
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp) rs1936314065
NM_003334.4(UBA1):c.1963C>A (p.Leu655Ile)
NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)
NM_003334.4(UBA1):c.2059G>A (p.Val687Met) rs1298433365
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)
NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)
NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)
NM_003334.4(UBA1):c.2078G>A (p.Arg693His)
NM_003334.4(UBA1):c.2094G>T (p.Gln698His) rs1556792871
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)
NM_003334.4(UBA1):c.2106C>G (p.Thr702=) rs1936856451
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu) rs1936888439
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)
NM_003334.4(UBA1):c.2388C>A (p.Val796=)
NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)
NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp) rs1168231329
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp) rs1569216553
NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)
NM_003334.4(UBA1):c.2464+6_2464+9del rs1175155400
NM_003334.4(UBA1):c.2464+7G>T
NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu) rs1556793890
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met) rs782087876
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu) rs782409785
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) rs1556794074
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys) rs1602662535
NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu) rs2147304012
NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)
NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)
NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)
NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His) rs374092856
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)
NM_003334.4(UBA1):c.356G>A (p.Arg119Gln) rs1556786841
NM_003334.4(UBA1):c.367A>G (p.Ile123Val)
NM_003334.4(UBA1):c.377A>G (p.Asn126Ser) rs781821596
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser) rs1159180530
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile) rs1936389956
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
NM_003334.4(UBA1):c.545G>A (p.Arg182His)
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)
NM_003334.4(UBA1):c.559G>T (p.Val187Leu) rs1556787682
NM_003334.4(UBA1):c.572C>T (p.Thr191Met)
NM_003334.4(UBA1):c.587+3G>A rs782499064
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys) rs1936410112
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)
NM_003334.4(UBA1):c.658A>G (p.Met220Val)
NM_003334.4(UBA1):c.667A>G (p.Met223Val)
NM_003334.4(UBA1):c.669G>A (p.Met223Ile)
NM_003334.4(UBA1):c.678+4A>T
NM_003334.4(UBA1):c.678+6G>A
NM_003334.4(UBA1):c.683A>C (p.Asn228Thr) rs1936415717
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser) rs1936415717
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe) rs782434472
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)
NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)
NM_003334.4(UBA1):c.793A>G (p.Met265Val) rs1936419804
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)
NM_003334.4(UBA1):c.859A>G (p.Ile287Val) rs1556788364
NM_003334.4(UBA1):c.85G>A (p.Val29Met) rs1936300089
NM_003334.4(UBA1):c.874G>A (p.Val292Ile) rs1301756527
NM_003334.4(UBA1):c.875T>C (p.Val292Ala)
NM_003334.4(UBA1):c.910-9C>G rs1602632158
NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)
NM_003334.4(UBA1):c.920T>C (p.Val307Ala)
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu) rs782052714
NM_003334.4(UBA1):c.991A>G (p.Ile331Val)
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu) rs1261157260
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly) rs1888350254
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val) rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg) rs779911846
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro) rs1566713262
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met) rs1595691552
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg) rs2139748832
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg) rs1470768259
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala) rs1168205465
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro) rs199759408
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg) rs1595691599
NM_003384.3(VRK1):c.1160-2A>G rs199916225
NM_003384.3(VRK1):c.1160-5T>C rs2139857584
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
NM_003384.3(VRK1):c.184G>A (p.Val62Ile) rs1555360117
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
NM_003384.3(VRK1):c.217-3A>G rs1009112116
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
NM_003384.3(VRK1):c.238C>G (p.Leu80Val) rs2139779081
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys) rs2139779137
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro) rs1887677369
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly) rs1887746110
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp) rs1888003676
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu) rs764788560
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) rs1888005284
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu) rs763034734
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser) rs888338488
NM_003384.3(VRK1):c.483T>A (p.Ile161=) rs1888008625
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro) rs1888014947
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg) rs888762581
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup) rs2139796397
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg) rs1566708080
NM_003384.3(VRK1):c.544A>C (p.Asn182His) rs745552947
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del) rs774219368
NM_003384.3(VRK1):c.551T>A (p.Leu184His) rs1888017746
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe) rs748878251
NM_003384.3(VRK1):c.586G>C (p.Val196Leu) rs372089106
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp) rs1555361508
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly) rs757917768
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser) rs2139802156
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro) rs1478722226
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp) rs1888144387
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg) rs768822328
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe) rs1566696565
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu) rs1888147421
NM_003384.3(VRK1):c.817G>C (p.Asp273His) rs1595677216
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.8G>A (p.Arg3His) rs902439355
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu) rs761494436
NM_003384.3(VRK1):c.962G>A (p.Arg321His) rs200927943
NM_003384.3(VRK1):c.967A>G (p.Ile323Val) rs754315181
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg) rs2139814873
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=) rs765964997
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn) rs1554091442
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr) rs774512680
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln) rs765610848
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs) rs1758356210
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) rs2113512735
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val) rs2113512757
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys) rs1582022482
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) rs2113512860
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu) rs1298281008
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg) rs2113513106
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
NM_003900.5(SQSTM1):c.1166-2A>G
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr) rs2113524011
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn) rs2113524028
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr) rs1471635040
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser) rs1377640860
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) rs2113524491
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) rs770118706
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His) rs2113524577
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu) rs778461636
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) rs2113480023
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser) rs1411304344
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
NM_003900.5(SQSTM1):c.206-9A>G rs2113484953
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp) rs2113484986
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala) rs1757838607
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile) rs1274176534
NM_003900.5(SQSTM1):c.301+6G>C
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del) rs2113487449
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly) rs1757886934
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile) rs1562654519
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met) rs1582007866
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) rs753212399
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu) rs372480231
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=) rs35266480
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln) rs118160361
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) rs1229776140
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala) rs1392938040
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn) rs1757907176
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) rs1562655554
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg) rs373585056
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val) rs377371202
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) rs1256909021
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu) rs1757909856
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser) rs1370363543
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del) rs747274001
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) rs201263163
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
NM_003900.5(SQSTM1):c.674-18T>G rs1317780724
NM_003900.5(SQSTM1):c.674-8A>G
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) rs1467107148
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
NM_003900.5(SQSTM1):c.754+5G>A
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr) rs753016349
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile) rs182522590
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala) rs988411948
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly) rs988411948
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) rs372827450
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser) rs745853858
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe) rs202119215
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly) rs2113510695
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr) rs760785371
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr) rs764205744
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu) rs754060027
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg) rs1012113887
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys) rs764111892
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg) rs2113510972
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met) rs200695664
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=) rs2113511316
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys) rs1436000961
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys) rs1358261412
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu) rs1185406298
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147
NM_004082.5(DCTN1):c.1000G>A (p.Glu334Lys)
NM_004082.5(DCTN1):c.1000G>T (p.Glu334Ter)
NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala) rs2103659798
NM_004082.5(DCTN1):c.1016T>C (p.Leu339Ser)
NM_004082.5(DCTN1):c.1048+3A>C rs1674767158
NM_004082.5(DCTN1):c.1048+4A>G rs1309897356
NM_004082.5(DCTN1):c.1048+6G>A
NM_004082.5(DCTN1):c.1054G>C (p.Asp352His)
NM_004082.5(DCTN1):c.1086G>T (p.Gln362His)
NM_004082.5(DCTN1):c.1093G>T (p.Glu365Ter)
NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr) rs1034996844
NM_004082.5(DCTN1):c.1106G>A (p.Arg369His)
NM_004082.5(DCTN1):c.1127+6G>A rs951022782
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu) rs570863800
NM_004082.5(DCTN1):c.1132C>T (p.Arg378Trp)
NM_004082.5(DCTN1):c.1133G>A (p.Arg378Gln)
NM_004082.5(DCTN1):c.1165G>A (p.Val389Met)
NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn) rs1674740605
NM_004082.5(DCTN1):c.1199A>C (p.Gln400Pro)
NM_004082.5(DCTN1):c.11G>A (p.Ser4Asn)
NM_004082.5(DCTN1):c.1203G>T (p.Glu401Asp) rs2103655781
NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter) rs2103723456
NM_004082.5(DCTN1):c.1231C>T (p.Arg411Cys)
NM_004082.5(DCTN1):c.1232G>A (p.Arg411His)
NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu) rs186892779
NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly) rs1674734372
NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala) rs2103654759
NM_004082.5(DCTN1):c.1287+5G>A
NM_004082.5(DCTN1):c.1288-10C>G rs72659375
NM_004082.5(DCTN1):c.1288-1G>A rs2103653438
NM_004082.5(DCTN1):c.1288-7_1289del rs1674719585
NM_004082.5(DCTN1):c.1288G>A (p.Val430Met)
NM_004082.5(DCTN1):c.1292A>G (p.Asp431Gly)
NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr) rs1573161529
NM_004082.5(DCTN1):c.1333G>C (p.Asp445His)
NM_004082.5(DCTN1):c.1340A>G (p.Asn447Ser)
NM_004082.5(DCTN1):c.1347T>A (p.Asn449Lys) rs2103652994
NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys) rs2103652794
NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly) rs1558941192
NM_004082.5(DCTN1):c.1393-13T>C
NM_004082.5(DCTN1):c.1396G>A (p.Ala466Thr)
NM_004082.5(DCTN1):c.1397C>T (p.Ala466Val)
NM_004082.5(DCTN1):c.1408A>G (p.Met470Val)
NM_004082.5(DCTN1):c.1414G>A (p.Asp472Asn)
NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile) rs1573179028
NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys) rs1558940606
NM_004082.5(DCTN1):c.1436G>T (p.Arg479Leu)
NM_004082.5(DCTN1):c.1447C>A (p.Leu483Met)
NM_004082.5(DCTN1):c.1481C>A (p.Ala494Glu)
NM_004082.5(DCTN1):c.1499A>G (p.Gln500Arg)
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1514C>T (p.Ala505Val)
NM_004082.5(DCTN1):c.1552AAG[1] (p.Lys519del) rs2103645875
NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser) rs2103723246
NM_004082.5(DCTN1):c.1562G>A (p.Arg521His)
NM_004082.5(DCTN1):c.1584+2T>C
NM_004082.5(DCTN1):c.1584+5A>G rs1283119090
NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser) rs367910524
NM_004082.5(DCTN1):c.1594C>T (p.Arg532Trp)
NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu) rs759306485
NM_004082.5(DCTN1):c.1606A>C (p.Asn536His) rs1553464927
NM_004082.5(DCTN1):c.1615G>A (p.Glu539Lys)
NM_004082.5(DCTN1):c.1616A>G (p.Glu539Gly)
NM_004082.5(DCTN1):c.1618G>A (p.Ala540Thr)
NM_004082.5(DCTN1):c.161C>T (p.Thr54Ile)
NM_004082.5(DCTN1):c.1636C>T (p.Gln546Ter)
NM_004082.5(DCTN1):c.1649C>T (p.Pro550Leu) rs2103644049
NM_004082.5(DCTN1):c.1667A>G (p.Lys556Arg)
NM_004082.5(DCTN1):c.1679C>A (p.Ala560Asp)
NM_004082.5(DCTN1):c.1684A>T (p.Thr562Ser)
NM_004082.5(DCTN1):c.1685C>T (p.Thr562Ile)
NM_004082.5(DCTN1):c.1697C>G (p.Ala566Gly)
NM_004082.5(DCTN1):c.1702-3C>A
NM_004082.5(DCTN1):c.1702G>A (p.Ala568Thr)
NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn) rs1553464828
NM_004082.5(DCTN1):c.1706T>C (p.Ile569Thr)
NM_004082.5(DCTN1):c.1719G>T (p.Leu573Phe)
NM_004082.5(DCTN1):c.1727T>C (p.Met576Thr) rs2103640952
NM_004082.5(DCTN1):c.1741G>T (p.Ala581Ser)
NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly) rs1288295388
NM_004082.5(DCTN1):c.1750C>A (p.His584Asn) rs2103640754
NM_004082.5(DCTN1):c.1752C>A (p.His584Gln) rs1345909454
NM_004082.5(DCTN1):c.1774A>C (p.Met592Leu)
NM_004082.5(DCTN1):c.1777C>T (p.Pro593Ser)
NM_004082.5(DCTN1):c.1788C>A (p.Phe596Leu)
NM_004082.5(DCTN1):c.178G>A (p.Val60Met) rs74768853
NM_004082.5(DCTN1):c.1799G>A (p.Gly600Asp)
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_004082.5(DCTN1):c.1808A>G (p.His603Arg)
NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly) rs1674611581
NM_004082.5(DCTN1):c.1814G>A (p.Cys605Tyr)
NM_004082.5(DCTN1):c.1834A>T (p.Met612Leu)
NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys) rs1674609133
NM_004082.5(DCTN1):c.1841G>A (p.Arg614His)
NM_004082.5(DCTN1):c.1844T>A (p.Leu615His) rs1674608736
NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter) rs1674561364
NM_004082.5(DCTN1):c.187G>A (p.Asp63Asn)
NM_004082.5(DCTN1):c.1882_1884del (p.Glu628del)
NM_004082.5(DCTN1):c.1902G>T (p.Glu634Asp)
NM_004082.5(DCTN1):c.1904A>G (p.Asn635Ser)
NM_004082.5(DCTN1):c.1912G>A (p.Glu638Lys)
NM_004082.5(DCTN1):c.1912G>C (p.Glu638Gln)
NM_004082.5(DCTN1):c.1915C>T (p.Arg639Trp)
NM_004082.5(DCTN1):c.1916G>A (p.Arg639Gln)
NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu) rs201095249
NM_004082.5(DCTN1):c.1927C>T (p.Arg643Ter) rs866457869
NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln) rs555733849
NM_004082.5(DCTN1):c.1931G>T (p.Gly644Val)
NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile) rs1558938711
NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg) rs2103632771
NM_004082.5(DCTN1):c.200G>T (p.Gly67Val) rs886039228
NM_004082.5(DCTN1):c.2014C>G (p.His672Asp)
NM_004082.5(DCTN1):c.2015+1G>C rs2103632452
NM_004082.5(DCTN1):c.2016-3T>C
NM_004082.5(DCTN1):c.2016-6C>A rs1573155729
NM_004082.5(DCTN1):c.2020C>A (p.Leu674Ile)
NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe) rs368531137
NM_004082.5(DCTN1):c.2024C>G (p.Ser675Cys)
NM_004082.5(DCTN1):c.2026C>T (p.Gln676Ter)
NM_004082.5(DCTN1):c.2033G>C (p.Ser678Thr)
NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly) rs2103630948
NM_004082.5(DCTN1):c.2060G>C (p.Ser687Thr)
NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn) rs72659377
NM_004082.5(DCTN1):c.2069C>T (p.Pro690Leu)
NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln) rs1674536343
NM_004082.5(DCTN1):c.2080G>A (p.Ala694Thr) rs2103630505
NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys) rs1674533703
NM_004082.5(DCTN1):c.2093C>T (p.Ser698Phe)
NM_004082.5(DCTN1):c.2104C>T (p.Leu702Phe) rs374500944
NM_004082.5(DCTN1):c.2140A>G (p.Thr714Ala)
NM_004082.5(DCTN1):c.2147A>C (p.Asn716Thr)
NM_004082.5(DCTN1):c.2161A>G (p.Thr721Ala)
NM_004082.5(DCTN1):c.2165A>C (p.Lys722Thr)
NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys) rs1287560245
NM_004082.5(DCTN1):c.2185-3C>T
NM_004082.5(DCTN1):c.2186A>G (p.His729Arg)
NM_004082.5(DCTN1):c.2194A>G (p.Ser732Gly)
NM_004082.5(DCTN1):c.2206G>A (p.Ala736Thr)
NM_004082.5(DCTN1):c.2214G>T (p.Gln738His)
NM_004082.5(DCTN1):c.221A>G (p.Gln74Arg)
NM_004082.5(DCTN1):c.2221G>A (p.Asp741Asn)
NM_004082.5(DCTN1):c.2221G>C (p.Asp741His)
NM_004082.5(DCTN1):c.2230A>G (p.Met744Val)
NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser) rs2103722715
NM_004082.5(DCTN1):c.2254T>C (p.Phe752Leu)
NM_004082.5(DCTN1):c.2264dup (p.Ser755fs)
NM_004082.5(DCTN1):c.2267C>T (p.Ala756Val)
NM_004082.5(DCTN1):c.2275T>C (p.Cys759Arg) rs2104418971
NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu) rs1410846987
NM_004082.5(DCTN1):c.2302C>T (p.Arg768Cys)
NM_004082.5(DCTN1):c.2316+5G>A rs913439751
NM_004082.5(DCTN1):c.2317-2A>T rs980571603
NM_004082.5(DCTN1):c.2320G>A (p.Gly774Arg)
NM_004082.5(DCTN1):c.232T>C (p.Tyr78His) rs1558948987
NM_004082.5(DCTN1):c.2332A>G (p.Thr778Ala)
NM_004082.5(DCTN1):c.2338A>G (p.Ile780Val) rs1558937413
NM_004082.5(DCTN1):c.2344C>G (p.Leu782Val) rs2104417734
NM_004082.5(DCTN1):c.2354G>A (p.Arg785Gln)
NM_004082.5(DCTN1):c.2359C>G (p.Leu787Val) rs2104417597
NM_004082.5(DCTN1):c.2367_2368del (p.Ser790fs)
NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg) rs1297844991
NM_004082.5(DCTN1):c.2377G>A (p.Asp793Asn)
NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg) rs1674452900
NM_004082.5(DCTN1):c.2389T>C (p.Phe797Leu)
NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val) rs573330919
NM_004082.5(DCTN1):c.2405G>A (p.Arg802Gln)
NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter) rs1674450649
NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu) rs1573152954
NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly) rs372500630
NM_004082.5(DCTN1):c.2432C>T (p.Pro811Leu)
NM_004082.5(DCTN1):c.2462C>G (p.Pro821Arg)
NM_004082.5(DCTN1):c.2467-8G>A
NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro) rs1470946965
NM_004082.5(DCTN1):c.2493G>C (p.Arg831Ser)
NM_004082.5(DCTN1):c.2504C>T (p.Thr835Met)
NM_004082.5(DCTN1):c.2512G>A (p.Val838Met)
NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg) rs2104415444
NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu) rs75213803
NM_004082.5(DCTN1):c.2550G>C (p.Gln850His) rs2104415238
NM_004082.5(DCTN1):c.2575G>A (p.Glu859Lys)
NM_004082.5(DCTN1):c.2596C>G (p.Leu866Val)
NM_004082.5(DCTN1):c.2608G>A (p.Ala870Thr) rs1267339489
NM_004082.5(DCTN1):c.2612T>C (p.Phe871Ser)
NM_004082.5(DCTN1):c.2628+5G>T
NM_004082.5(DCTN1):c.2629-7C>A rs1278207608
NM_004082.5(DCTN1):c.2642C>G (p.Pro881Arg)
NM_004082.5(DCTN1):c.2677T>A (p.Cys893Ser)
NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp) rs1437825772
NM_004082.5(DCTN1):c.2681A>G (p.Asn894Ser) rs1207333910
NM_004082.5(DCTN1):c.269G>A (p.Arg90His)
NM_004082.5(DCTN1):c.2705A>G (p.Lys902Arg)
NM_004082.5(DCTN1):c.2711C>T (p.Ala904Val)
NM_004082.5(DCTN1):c.2719A>G (p.Met907Val) rs1459064982
NM_004082.5(DCTN1):c.2731dup (p.Glu911fs) rs1573151165
NM_004082.5(DCTN1):c.2738A>G (p.Asp913Gly)
NM_004082.5(DCTN1):c.2749C>T (p.Pro917Ser)
NM_004082.5(DCTN1):c.2761C>G (p.Pro921Ala)
NM_004082.5(DCTN1):c.2768C>T (p.Pro923Leu)
NM_004082.5(DCTN1):c.2793dup (p.Arg932fs) rs1674376535
NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) rs373818927
NM_004082.5(DCTN1):c.2795G>T (p.Arg932Leu)
NM_004082.5(DCTN1):c.279G>A (p.Gln93=) rs1675325580
NM_004082.5(DCTN1):c.2808del (p.Asp937fs) rs1674375059
NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn) rs2104411784
NM_004082.5(DCTN1):c.280A>G (p.Ile94Val)
NM_004082.5(DCTN1):c.282C>A (p.Ile94=)
NM_004082.5(DCTN1):c.2879A>G (p.Lys960Arg) rs1354697657
NM_004082.5(DCTN1):c.287T>C (p.Val96Ala) rs1675306520
NM_004082.5(DCTN1):c.2887G>C (p.Gly963Arg)
NM_004082.5(DCTN1):c.2895G>T (p.Glu965Asp)
NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser) rs568812456
NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met) rs2104409827
NM_004082.5(DCTN1):c.2927T>C (p.Leu976Pro)
NM_004082.5(DCTN1):c.2932AAG[1] (p.Lys979del) rs1371339798
NM_004082.5(DCTN1):c.2938T>A (p.Leu980Met)
NM_004082.5(DCTN1):c.2951C>T (p.Ala984Val)
NM_004082.5(DCTN1):c.2963A>T (p.Asp988Val)
NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu) rs1674344495
NM_004082.5(DCTN1):c.2964T>G (p.Asp988Glu)
NM_004082.5(DCTN1):c.2968C>T (p.Arg990Cys)
NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys) rs768409522
NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala) rs1558935430
NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp) rs1030053524
NM_004082.5(DCTN1):c.3017G>A (p.Arg1006Gln) rs752882353
NM_004082.5(DCTN1):c.3029+19G>T rs201665169
NM_004082.5(DCTN1):c.3029+5G>A
NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu) rs1674319515
NM_004082.5(DCTN1):c.3046A>G (p.Met1016Val)
NM_004082.5(DCTN1):c.305A>G (p.Asp102Gly)
NM_004082.5(DCTN1):c.3067A>G (p.Ile1023Val)
NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn) rs1558935068
NM_004082.5(DCTN1):c.3106C>T (p.Arg1036Cys)
NM_004082.5(DCTN1):c.310A>G (p.Thr104Ala)
NM_004082.5(DCTN1):c.3125A>G (p.Lys1042Arg)
NM_004082.5(DCTN1):c.3131C>T (p.Thr1044Met)
NM_004082.5(DCTN1):c.3133A>T (p.Ile1045Phe)
NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr) rs1187766749
NM_004082.5(DCTN1):c.3157C>G (p.Pro1053Ala)
NM_004082.5(DCTN1):c.3157C>T (p.Pro1053Ser)
NM_004082.5(DCTN1):c.316C>G (p.Pro106Ala)
NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser) rs1470101332
NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val) rs752323459
NM_004082.5(DCTN1):c.3177G>A (p.Leu1059=) rs1213472053
NM_004082.5(DCTN1):c.31C>T (p.Arg11Trp)
NM_004082.5(DCTN1):c.3209G>A (p.Arg1070Gln)
NM_004082.5(DCTN1):c.3212-2A>G rs1674169667
NM_004082.5(DCTN1):c.3212-3C>T
NM_004082.5(DCTN1):c.3236G>A (p.Gly1079Glu)
NM_004082.5(DCTN1):c.3259G>C (p.Val1087Leu)
NM_004082.5(DCTN1):c.325C>A (p.Pro109Thr)
NM_004082.5(DCTN1):c.325_327dup (p.Pro109_Asp110insPro)
NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe) rs762263842
NM_004082.5(DCTN1):c.3286C>A (p.Gln1096Lys) rs1246390551
NM_004082.5(DCTN1):c.3296C>T (p.Ala1099Val)
NM_004082.5(DCTN1):c.3310A>G (p.Ile1104Val)
NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg) rs1244901384
NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys) rs765267495
NM_004082.5(DCTN1):c.332C>A (p.Ser111Tyr) rs374419252
NM_004082.5(DCTN1):c.332C>T (p.Ser111Phe)
NM_004082.5(DCTN1):c.3335G>C (p.Ser1112Thr)
NM_004082.5(DCTN1):c.3345G>A (p.Lys1115=)
NM_004082.5(DCTN1):c.3350C>G (p.Ala1117Gly)
NM_004082.5(DCTN1):c.3391G>T (p.Val1131Phe) rs1296558175
NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu) rs1064797254
NM_004082.5(DCTN1):c.34-1G>C
NM_004082.5(DCTN1):c.3400C>G (p.Leu1134Val)
NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg) rs1674138994
NM_004082.5(DCTN1):c.3422G>A (p.Ser1141Asn)
NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly) rs1573142045
NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr) rs1399568739
NM_004082.5(DCTN1):c.3434C>G (p.Ala1145Gly)
NM_004082.5(DCTN1):c.3445T>C (p.Tyr1149His)
NM_004082.5(DCTN1):c.345A>G (p.Lys115=) rs1675303256
NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg) rs1674134327
NM_004082.5(DCTN1):c.3490A>T (p.Thr1164Ser) rs72466493
NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg) rs376549770
NM_004082.5(DCTN1):c.3499C>A (p.His1167Asn) rs2104395345
NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys) rs1442881228
NM_004082.5(DCTN1):c.3530-1G>A rs2104393432
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004082.5(DCTN1):c.3542C>G (p.Pro1181Arg) rs1403208705
NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu) rs1403208705
NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val) rs1477782343
NM_004082.5(DCTN1):c.3559G>C (p.Glu1187Gln) rs1485769288
NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=) rs1674099395
NM_004082.5(DCTN1):c.3571C>A (p.Gln1191Lys)
NM_004082.5(DCTN1):c.3580T>G (p.Ser1194Ala)
NM_004082.5(DCTN1):c.3584T>G (p.Leu1195Arg)
NM_004082.5(DCTN1):c.3609+20C>T
NM_004082.5(DCTN1):c.3610-13_3612del rs2104389854
NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)
NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg) rs565866230
NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del) rs1364182022
NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser) rs184147813
NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala) rs886070472
NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His) rs1276978486
NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)
NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)
NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)
NM_004082.5(DCTN1):c.3700-3C>G
NM_004082.5(DCTN1):c.3700-3C>T rs747435830
NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val) rs1200946425
NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)
NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg) rs769430160
NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys) rs752422008
NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn) rs2104386809
NM_004082.5(DCTN1):c.374C>T (p.Thr125Ile) rs1275593815
NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu) rs1673994728
NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala) rs766778493
NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)
NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg) rs1238095268
NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr) rs1553466338
NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr) rs1375787578
NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met) rs2104386411
NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) rs146083590
NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg) rs751431467
NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu) rs1673987624
NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)
NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)
NM_004082.5(DCTN1):c.391C>G (p.Leu131Val)
NM_004082.5(DCTN1):c.393G>A (p.Leu131=)
NM_004082.5(DCTN1):c.394-2dup rs1403988786
NM_004082.5(DCTN1):c.394-3C>T
NM_004082.5(DCTN1):c.394C>T (p.Arg132Trp)
NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln) rs1675250026
NM_004082.5(DCTN1):c.414+1G>T rs576198476
NM_004082.5(DCTN1):c.419C>A (p.Pro140Gln)
NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu) rs147939455
NM_004082.5(DCTN1):c.41G>T (p.Ser14Ile)
NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg) rs2103694207
NM_004082.5(DCTN1):c.425C>T (p.Ala142Val)
NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly) rs781290307
NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln) rs764615912
NM_004082.5(DCTN1):c.428G>C (p.Arg143Pro)
NM_004082.5(DCTN1):c.432+1G>T rs1235693710
NM_004082.5(DCTN1):c.433-3C>T rs375832615
NM_004082.5(DCTN1):c.434C>G (p.Thr145Ser)
NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly) rs148810193
NM_004082.5(DCTN1):c.453+6A>G
NM_004082.5(DCTN1):c.475G>T (p.Gly159Trp)
NM_004082.5(DCTN1):c.487G>T (p.Ala163Ser) rs746429168
NM_004082.5(DCTN1):c.518C>G (p.Ala173Gly) rs1445980252
NM_004082.5(DCTN1):c.518C>T (p.Ala173Val) rs1445980252
NM_004082.5(DCTN1):c.51G>T (p.Arg17Ser)
NM_004082.5(DCTN1):c.524C>T (p.Ala175Val)
NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn) rs1365948671
NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser) rs1674861180
NM_004082.5(DCTN1):c.557C>G (p.Pro186Arg)
NM_004082.5(DCTN1):c.562C>G (p.Gln188Glu)
NM_004082.5(DCTN1):c.577G>A (p.Ala193Thr)
NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu) rs1057518814
NM_004082.5(DCTN1):c.589C>T (p.Pro197Ser)
NM_004082.5(DCTN1):c.593C>T (p.Thr198Met)
NM_004082.5(DCTN1):c.5C>T (p.Ala2Val) rs1675439973
NM_004082.5(DCTN1):c.605C>T (p.Thr202Ile)
NM_004082.5(DCTN1):c.611C>T (p.Pro204Leu)
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser) rs770302677
NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln) rs112725508
NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg) rs112725508
NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu) rs112725508
NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg) rs1558943273
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu) rs754827026
NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln) rs1573164746
NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr) rs372733713
NM_004082.5(DCTN1):c.70G>T (p.Ala24Ser)
NM_004082.5(DCTN1):c.713G>A (p.Arg238Gln)
NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser) rs1674806644
NM_004082.5(DCTN1):c.742C>G (p.Leu248Val) rs112475795
NM_004082.5(DCTN1):c.74G>A (p.Arg25Gln)
NM_004082.5(DCTN1):c.793A>C (p.Met265Leu)
NM_004082.5(DCTN1):c.793A>T (p.Met265Leu) rs2103663572
NM_004082.5(DCTN1):c.809C>T (p.Ala270Val)
NM_004082.5(DCTN1):c.820C>T (p.Arg274Trp)
NM_004082.5(DCTN1):c.82C>T (p.Arg28Trp)
NM_004082.5(DCTN1):c.833A>T (p.Glu278Val) rs1553465344
NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr) rs1674798940
NM_004082.5(DCTN1):c.840A>G (p.Arg280=)
NM_004082.5(DCTN1):c.844-2A>G rs2103661242
NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg) rs755017882
NM_004082.5(DCTN1):c.857C>T (p.Ala286Val) rs896989123
NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) rs1200414397
NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly) rs759253635
NM_004082.5(DCTN1):c.949C>T (p.Arg317Trp)
NM_004082.5(DCTN1):c.95G>A (p.Arg32His)
NM_004082.5(DCTN1):c.986A>G (p.Lys329Arg) rs760539371
NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp) rs1064797256
NM_004082.5(DCTN1):c.992G>A (p.Arg331Gln)
NM_004082.5(DCTN1):c.999C>A (p.Asp333Glu)
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) rs755474083
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) rs781691837
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) rs777026649
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
NM_004738.5(VAPB):c.159del (p.Cys53fs)
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
NM_004738.5(VAPB):c.194C>T (p.Ala65Val) rs1555813002
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) rs762603323
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) rs2123088879
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) rs2123088925
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) rs1431840351
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) rs1987730075
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) rs760656837
NM_004738.5(VAPB):c.396+6T>C
NM_004738.5(VAPB):c.421A>G (p.Ile141Val) rs1392475929
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) rs1989146263
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
NM_004738.5(VAPB):c.457G>A (p.Val153Met) rs1362788253
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) rs1555815825
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) rs2123099930
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) rs1989148708
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) rs1039112226
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) rs1568720020
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) rs145483046
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) rs1252954619
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) rs371134278
NM_004738.5(VAPB):c.59-3C>T
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) rs757786343
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) rs1989221617
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) rs1989222839
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) rs763755820
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) rs1439925669
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) rs2123105103
NM_004738.5(VAPB):c.677C>T (p.Ala226Val) rs2123105103
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
NM_004738.5(VAPB):c.688T>G (p.Leu230Val) rs1600821730
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
NM_004738.5(VAPB):c.709A>G (p.Ile237Val) rs1555816248
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) rs2123058661
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) rs2123058664
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) rs1293144080
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)
NM_004960.3(FUS):c.515_523+3del
NM_004960.4(FUS):c.1055A>T (p.Asp352Val)
NM_004960.4(FUS):c.1087C>G (p.Pro363Ala)
NM_004960.4(FUS):c.1111C>T (p.Arg371Cys) rs773141319
NM_004960.4(FUS):c.1148G>A (p.Arg383His)
NM_004960.4(FUS):c.1157G>C (p.Arg386Pro)
NM_004960.4(FUS):c.1171C>G (p.Pro391Ala) rs560450437
NM_004960.4(FUS):c.1190A>G (p.Tyr397Cys)
NM_004960.4(FUS):c.1234A>G (p.Ser412Gly)
NM_004960.4(FUS):c.1285C>T (p.Pro429Ser)
NM_004960.4(FUS):c.1317T>C (p.Ser439=) rs377010944
NM_004960.4(FUS):c.1369G>A (p.Gly457Arg)
NM_004960.4(FUS):c.1371_1373dup (p.Gly458_Pro459insGly)
NM_004960.4(FUS):c.1376C>T (p.Pro459Leu) rs1131691846
NM_004960.4(FUS):c.1414C>T (p.Arg472Cys) rs914056789
NM_004960.4(FUS):c.1436A>G (p.Tyr479Cys)
NM_004960.4(FUS):c.1451A>G (p.Tyr484Cys)
NM_004960.4(FUS):c.1471C>A (p.Arg491Ser) rs753458243
NM_004960.4(FUS):c.1520G>A (p.Gly507Asp) rs267606831
NM_004960.4(FUS):c.1543G>A (p.Gly515Ser)
NM_004960.4(FUS):c.1545_1547dup (p.Gly515_Glu516insAsp) rs2079357583
NM_004960.4(FUS):c.1549C>A (p.His517Asn)
NM_004960.4(FUS):c.1550A>G (p.His517Arg) rs1085308015
NM_004960.4(FUS):c.1552A>G (p.Arg518Gly) rs1409962577
NM_004960.4(FUS):c.1555C>G (p.Gln519Glu) rs1567479067
NM_004960.4(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_004960.4(FUS):c.1566G>C (p.Arg522Ser)
NM_004960.4(FUS):c.1570A>T (p.Arg524Trp) rs267606833
NM_004960.4(FUS):c.167CTT[1] (p.Ser57del) rs777545405
NM_004960.4(FUS):c.211A>G (p.Thr71Ala)
NM_004960.4(FUS):c.215C>T (p.Pro72Leu) rs2144107259
NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr) rs2079220021
NM_004960.4(FUS):c.335+6G>C
NM_004960.4(FUS):c.340G>A (p.Gly114Ser)
NM_004960.4(FUS):c.39-18G>A
NM_004960.4(FUS):c.392G>A (p.Ser131Asn)
NM_004960.4(FUS):c.412GGACAGCAGCAAAGCTAT[1] (p.138GQQQSY[1]) rs747579808
NM_004960.4(FUS):c.474G>C (p.Gln158His)
NM_004960.4(FUS):c.493A>G (p.Ser165Gly) rs1325339011
NM_004960.4(FUS):c.493_495del (p.Ser165del) rs2079227565
NM_004960.4(FUS):c.511G>T (p.Gly171Cys)
NM_004960.4(FUS):c.52C>T (p.Pro18Ser) rs144888138
NM_004960.4(FUS):c.537A>C (p.Gln179His)
NM_004960.4(FUS):c.550A>G (p.Met184Val)
NM_004960.4(FUS):c.559G>A (p.Gly187Ser)
NM_004960.4(FUS):c.566G>A (p.Gly189Asp)
NM_004960.4(FUS):c.571G>A (p.Gly191Ser) rs148758737
NM_004960.4(FUS):c.587A>G (p.Asn196Ser)
NM_004960.4(FUS):c.623A>G (p.Tyr208Cys)
NM_004960.4(FUS):c.646_669del (p.Arg216_Gly223del)
NM_004960.4(FUS):c.647G>A (p.Arg216His)
NM_004960.4(FUS):c.649G>C (p.Gly217Arg) rs565915110
NM_004960.4(FUS):c.652_678del (p.Arg218_Gly226del) rs756437417
NM_004960.4(FUS):c.654_662dup (p.Gly220_Ser221insArgGlyGly)
NM_004960.4(FUS):c.669CGG[10] (p.Gly228_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[3] (p.Gly229_Gly231del) rs72550890
NM_004960.4(FUS):c.669CGG[8] (p.Gly230_Gly231dup) rs72550890
NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup) rs72550890
NM_004960.4(FUS):c.685GGT[4] (p.Gly231_Tyr232insGly)
NM_004960.4(FUS):c.685GGT[5] (p.Gly230_Gly231dup) rs757651881
NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup) rs757651881
NM_004960.4(FUS):c.689G>T (p.Gly230Val)
NM_004960.4(FUS):c.691G>A (p.Gly231Ser) rs2144114616
NM_004960.4(FUS):c.700C>T (p.Arg234Cys)
NM_004960.4(FUS):c.731G>A (p.Arg244His)
NM_004960.4(FUS):c.735_737dup (p.Gly247_Arg248insGly)
NM_004960.4(FUS):c.739_750dup (p.Gly250_Arg251insGlyArgGlyGly)
NM_004960.4(FUS):c.743G>A (p.Arg248His) rs760351730
NM_004960.4(FUS):c.761T>C (p.Met254Thr)
NM_004960.4(FUS):c.823C>T (p.His275Tyr)
NM_004960.4(FUS):c.831C>T (p.Ser277=)
NM_004960.4(FUS):c.833-6A>G
NM_004960.4(FUS):c.884A>G (p.Asn295Ser)
NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu) rs2132330402
NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys) rs867727095
NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu)
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) rs779459049
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu) rs2132329730
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) rs1382890194
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) rs1820911034
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) rs768933234
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) rs768933234
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) rs1820909011
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) rs200076129
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala) rs2132324643
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp) rs1820834441
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) rs1820832825
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del) rs2132324233
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) rs777650644
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) rs777650644
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val)
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu) rs1406092949
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) rs1820825348
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) rs1396152845
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs) rs752243393
NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His) rs764002616
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) rs1564096623
NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro) rs1820931363
NM_006308.3(HSPB3):c.127G>A (p.Val43Met)
NM_006308.3(HSPB3):c.176C>T (p.Ala59Val)
NM_006308.3(HSPB3):c.185C>T (p.Thr62Met)
NM_006308.3(HSPB3):c.209A>G (p.His70Arg)
NM_006308.3(HSPB3):c.224T>A (p.Leu75Gln)
NM_006308.3(HSPB3):c.229G>T (p.Val77Leu) rs148535965
NM_006308.3(HSPB3):c.25C>T (p.Leu9Phe)
NM_006308.3(HSPB3):c.275G>A (p.Gly92Asp) rs777949955
NM_006308.3(HSPB3):c.408T>C (p.Asp136=)
NM_006308.3(HSPB3):c.92A>G (p.Asp31Gly)
NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)
NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys) rs1322194084
NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val) rs1165402332
NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr) rs746079387
NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del) rs749724691
NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) rs140172586
NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly) rs140172586
NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys) rs140172586
NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)
NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)
NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)
NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln) rs576205050
NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)
NM_006736.6(DNAJB2):c.289C>T (p.Arg97Cys) rs1951909330
NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly) rs1233939998
NM_006736.6(DNAJB2):c.337T>C (p.Phe113Leu) rs1349202271
NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
NM_006736.6(DNAJB2):c.406C>G (p.Pro136Ala) rs1951918459
NM_006736.6(DNAJB2):c.408CTT[1] (p.Phe138del) rs916480780
NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)
NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)
NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro) rs1223035732
NM_006736.6(DNAJB2):c.446-3C>T rs1951921657
NM_006736.6(DNAJB2):c.449T>C (p.Phe150Ser) rs1951921696
NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro) rs1951921760
NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg) rs1951922090
NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)
NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr) rs2125081450
NM_006736.6(DNAJB2):c.509C>T (p.Ser170Phe) rs1951922399
NM_006736.6(DNAJB2):c.520G>T (p.Val174Phe) rs2125082980
NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg) rs1559286796
NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys) rs1415279774
NM_006736.6(DNAJB2):c.538A>G (p.Thr180Ala) rs1317732158
NM_006736.6(DNAJB2):c.548+4A>G
NM_006736.6(DNAJB2):c.548+5G>A rs1951923213
NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile) rs1574901375
NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)
NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)
NM_006736.6(DNAJB2):c.583G>C (p.Glu195Gln) rs2125083127
NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)
NM_006736.6(DNAJB2):c.625C>T (p.Pro209Ser) rs769946182
NM_006736.6(DNAJB2):c.638_649dup (p.Ala213_Leu216dup) rs1016678138
NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)
NM_006736.6(DNAJB2):c.65+12C>T
NM_006736.6(DNAJB2):c.658C>A (p.Arg220Ser) rs373611775
NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu) rs1357690630
NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)
NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys) rs1951895139
NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp) rs370819068
NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln) rs780839621
NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser) rs749436734
NM_006736.6(DNAJB2):c.739A>G (p.Ser247Gly) rs2125083744
NM_006736.6(DNAJB2):c.74G>A (p.Arg25His) rs1403156116
NM_006736.6(DNAJB2):c.775A>G (p.Met259Val) rs769533786
NM_006736.6(DNAJB2):c.805G>A (p.Ala269Thr) rs762419182
NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr)
NM_006736.6(DNAJB2):c.825T>A (p.Gly275=) rs1574902248
NM_006736.6(DNAJB2):c.827G>A (p.Gly276Glu) rs753991111
NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp) rs755166275
NM_007126.5(VCP):c.1031T>C (p.Met344Thr)
NM_007126.5(VCP):c.1058T>C (p.Ile353Thr)
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr) rs1828723406
NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)
NM_007126.5(VCP):c.1144C>G (p.Gln382Glu) rs1828722725
NM_007126.5(VCP):c.1156A>G (p.Lys386Glu) rs1563977665
NM_007126.5(VCP):c.1160A>G (p.Asn387Ser)
NM_007126.5(VCP):c.1180G>A (p.Val394Met) rs1587122661
NM_007126.5(VCP):c.1186C>G (p.Leu396Val) rs2131031813
NM_007126.5(VCP):c.1197A>G (p.Val399=) rs886044575
NM_007126.5(VCP):c.1198G>T (p.Ala400Ser)
NM_007126.5(VCP):c.11G>A (p.Gly4Glu)
NM_007126.5(VCP):c.1202A>T (p.Asn401Ile) rs148329626
NM_007126.5(VCP):c.1265C>G (p.Ala422Gly) rs2131031304
NM_007126.5(VCP):c.1283A>T (p.Asp428Val) rs2131031300
NM_007126.5(VCP):c.1307C>T (p.Thr436Ile)
NM_007126.5(VCP):c.1309A>G (p.Ile437Val)
NM_007126.5(VCP):c.1310T>C (p.Ile437Thr)
NM_007126.5(VCP):c.1318G>A (p.Glu440Lys) rs955652521
NM_007126.5(VCP):c.1324A>G (p.Met442Val) rs1828712085
NM_007126.5(VCP):c.1357C>T (p.Arg453Trp) rs755519450
NM_007126.5(VCP):c.1433A>G (p.Asp478Gly) rs1554668345
NM_007126.5(VCP):c.1465C>T (p.Leu489=)
NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)
NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)
NM_007126.5(VCP):c.1696-34_1716dup rs2131029563
NM_007126.5(VCP):c.1696-3C>T
NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)
NM_007126.5(VCP):c.1790C>T (p.Ala597Val) rs890637602
NM_007126.5(VCP):c.1837A>G (p.Thr613Ala) rs2131029426
NM_007126.5(VCP):c.1864G>T (p.Ala622Ser) rs1828681453
NM_007126.5(VCP):c.1915C>A (p.Leu639Ile)
NM_007126.5(VCP):c.194G>A (p.Arg65Gln)
NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)
NM_007126.5(VCP):c.1984C>T (p.Arg662Cys) rs765795425
NM_007126.5(VCP):c.1993C>T (p.Pro665Ser) rs2131029246
NM_007126.5(VCP):c.2004+8C>T
NM_007126.5(VCP):c.2014T>G (p.Leu672Val) rs757829124
NM_007126.5(VCP):c.2036C>T (p.Thr679Ile)
NM_007126.5(VCP):c.2110G>A (p.Glu704Lys)
NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)
NM_007126.5(VCP):c.211G>A (p.Val71Ile)
NM_007126.5(VCP):c.2134G>C (p.Glu712Gln)
NM_007126.5(VCP):c.2143A>G (p.Thr715Ala)
NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)
NM_007126.5(VCP):c.2221C>T (p.Arg741Cys)
NM_007126.5(VCP):c.2228C>T (p.Ala743Val) rs771662410
NM_007126.5(VCP):c.2233C>T (p.Arg745Cys) rs2131026595
NM_007126.5(VCP):c.2234G>A (p.Arg745His)
NM_007126.5(VCP):c.2242A>T (p.Ser748Cys) rs1828632660
NM_007126.5(VCP):c.2266G>A (p.Glu756Lys) rs1587117319
NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)
NM_007126.5(VCP):c.2315+6T>C
NM_007126.5(VCP):c.2345G>C (p.Gly782Ala) rs1828626335
NM_007126.5(VCP):c.2345G>T (p.Gly782Val) rs1828626335
NM_007126.5(VCP):c.2381G>A (p.Ser794Asn)
NM_007126.5(VCP):c.244A>C (p.Ile82Leu)
NM_007126.5(VCP):c.265C>T (p.Arg89Trp) rs1828865320
NM_007126.5(VCP):c.266G>A (p.Arg89Gln)
NM_007126.5(VCP):c.268A>G (p.Asn90Asp) rs1828865209
NM_007126.5(VCP):c.273C>G (p.Asn91Lys) rs1563980966
NM_007126.5(VCP):c.298A>G (p.Ile100Val)
NM_007126.5(VCP):c.310C>T (p.Pro104Ser) rs1186937475
NM_007126.5(VCP):c.313T>C (p.Cys105Arg) rs1828842736
NM_007126.5(VCP):c.320A>T (p.Asp107Val) rs1563980440
NM_007126.5(VCP):c.355A>G (p.Ile119Val)
NM_007126.5(VCP):c.365C>T (p.Thr122Ile) rs2131038987
NM_007126.5(VCP):c.367G>A (p.Val123Met) rs2131038977
NM_007126.5(VCP):c.367G>C (p.Val123Leu)
NM_007126.5(VCP):c.377T>G (p.Ile126Ser) rs1828841085
NM_007126.5(VCP):c.380C>T (p.Thr127Ile)
NM_007126.5(VCP):c.382G>C (p.Gly128Arg)
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) rs1554668979
NM_007126.5(VCP):c.397G>T (p.Val133Leu)
NM_007126.5(VCP):c.400T>C (p.Tyr134His)
NM_007126.5(VCP):c.401A>G (p.Tyr134Cys) rs1828840466
NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)
NM_007126.5(VCP):c.407A>C (p.Lys136Thr)
NM_007126.5(VCP):c.445+8C>G
NM_007126.5(VCP):c.446-4_446-3delinsAT rs1828808684
NM_007126.5(VCP):c.453T>G (p.Ile151Met) rs1828808459
NM_007126.5(VCP):c.460G>T (p.Val154Phe) rs1587127201
NM_007126.5(VCP):c.467G>T (p.Gly156Val)
NM_007126.5(VCP):c.479C>T (p.Ala160Val) rs1554668804
NM_007126.5(VCP):c.486G>C (p.Glu162Asp)
NM_007126.5(VCP):c.487T>A (p.Phe163Ile)
NM_007126.5(VCP):c.512G>A (p.Ser171Asn) rs200911363
NM_007126.5(VCP):c.512G>T (p.Ser171Ile) rs200911363
NM_007126.5(VCP):c.523A>G (p.Ile175Val) rs1828806031
NM_007126.5(VCP):c.565A>G (p.Ile189Val)
NM_007126.5(VCP):c.577-2A>G rs1828784075
NM_007126.5(VCP):c.584A>G (p.Glu195Gly)
NM_007126.5(VCP):c.605G>A (p.Gly202Glu)
NM_007126.5(VCP):c.636G>C (p.Gln212His)
NM_007126.5(VCP):c.648A>G (p.Ile216Met) rs1828783140
NM_007126.5(VCP):c.677A>T (p.His226Leu) rs2131035134
NM_007126.5(VCP):c.722T>C (p.Ile241Thr)
NM_007126.5(VCP):c.760A>T (p.Ile254Phe)
NM_007126.5(VCP):c.767G>A (p.Arg256Gln) rs1828757317
NM_007126.5(VCP):c.792CTT[3] (p.Phe267del)
NM_007126.5(VCP):c.810T>C (p.Asn270=) rs1372175418
NM_007126.5(VCP):c.811+2_811+3inv
NM_007126.5(VCP):c.82G>A (p.Val28Ile) rs1480586527
NM_007126.5(VCP):c.84T>A (p.Val28=) rs1587130660
NM_007126.5(VCP):c.94A>G (p.Ile32Val) rs1828872947
NM_007126.5(VCP):c.995T>C (p.Met332Thr) rs1828737891
NM_007375.4(TARDBP):c.*697G>A rs387906334
NM_007375.4(TARDBP):c.1051G>A (p.Gly351Ser)
NM_007375.4(TARDBP):c.1054A>G (p.Asn352Asp)
NM_007375.4(TARDBP):c.1069G>C (p.Gly357Arg) rs1553159719
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
NM_007375.4(TARDBP):c.1108_1122dup (p.Gly370_Tyr374dup) rs1570725407
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe) rs1643661597
NM_007375.4(TARDBP):c.1122T>A (p.Tyr374Ter)
NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter) rs147795017
NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)
NM_007375.4(TARDBP):c.1131dup (p.Asn378Ter)
NM_007375.4(TARDBP):c.1141G>A (p.Ala381Thr)
NM_007375.4(TARDBP):c.1148T>C (p.Ile383Thr)
NM_007375.4(TARDBP):c.1155G>A (p.Trp385Ter) rs2100857066
NM_007375.4(TARDBP):c.1157G>A (p.Gly386Glu)
NM_007375.4(TARDBP):c.1167_1172dup (p.Ala391_Gly392insAsnAla)
NM_007375.4(TARDBP):c.1178C>T (p.Ser393Leu) rs80356743
NM_007375.4(TARDBP):c.1187G>A (p.Gly396Asp) rs2100857132
NM_007375.4(TARDBP):c.1213A>G (p.Met405Val)
NM_007375.4(TARDBP):c.169G>A (p.Val57Ile)
NM_007375.4(TARDBP):c.208A>G (p.Asn70Asp) rs1643465434
NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile) rs1553159049
NM_007375.4(TARDBP):c.290A>G (p.Lys97Arg)
NM_007375.4(TARDBP):c.505_506delinsTT (p.Asp169Phe)
NM_007375.4(TARDBP):c.587G>A (p.Gly196Glu)
NM_007375.4(TARDBP):c.639G>C (p.Gln213His)
NM_007375.4(TARDBP):c.776A>G (p.Asn259Ser)
NM_007375.4(TARDBP):c.869G>C (p.Gly290Ala) rs121908395
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
NM_007375.4(TARDBP):c.941G>C (p.Gly314Ala)
NM_007375.4(TARDBP):c.944C>T (p.Ala315Val)
NM_007375.4(TARDBP):c.946T>C (p.Phe316Leu)
NM_007375.4(TARDBP):c.95C>T (p.Thr32Ile)
NM_007375.4(TARDBP):c.976G>A (p.Ala326Thr)
NM_007375.4(TARDBP):c.995G>A (p.Ser332Asn) rs80356728
NM_013254.4(TBK1):c.1028C>G (p.Thr343Ser)
NM_013254.4(TBK1):c.1058T>C (p.Ile353Thr)
NM_013254.4(TBK1):c.110T>G (p.Ile37Ser) rs2136056628
NM_013254.4(TBK1):c.1148G>T (p.Ser383Ile) rs1592369002
NM_013254.4(TBK1):c.1180T>G (p.Tyr394Asp) rs1267274595
NM_013254.4(TBK1):c.1195C>T (p.Leu399Phe)
NM_013254.4(TBK1):c.1213C>T (p.Arg405Cys)
NM_013254.4(TBK1):c.1219G>C (p.Asp407His)
NM_013254.4(TBK1):c.1228G>A (p.Gly410Arg)
NM_013254.4(TBK1):c.1249-5A>C
NM_013254.4(TBK1):c.1259_1264dup (p.Val421_Val422insGlyVal)
NM_013254.4(TBK1):c.1261G>A (p.Val421Ile) rs201332131
NM_013254.4(TBK1):c.1286C>G (p.Ala429Gly)
NM_013254.4(TBK1):c.128T>G (p.Ile43Arg)
NM_013254.4(TBK1):c.1307A>G (p.Gln436Arg)
NM_013254.4(TBK1):c.1319G>A (p.Arg440Gln)
NM_013254.4(TBK1):c.1321A>C (p.Lys441Gln) rs2136079527
NM_013254.4(TBK1):c.1340+3A>G
NM_013254.4(TBK1):c.1341-10_1341-9del
NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu) rs1565821771
NM_013254.4(TBK1):c.1364A>G (p.Asn455Ser)
NM_013254.4(TBK1):c.1364A>T (p.Asn455Ile)
NM_013254.4(TBK1):c.1412G>A (p.Cys471Tyr)
NM_013254.4(TBK1):c.1412G>C (p.Cys471Ser) rs369875862
NM_013254.4(TBK1):c.142C>G (p.Pro48Ala) rs2136056652
NM_013254.4(TBK1):c.1466A>G (p.Asn489Ser) rs2136082596
NM_013254.4(TBK1):c.1475C>G (p.Ala492Gly)
NM_013254.4(TBK1):c.149A>C (p.Asp50Ala) rs1010930015
NM_013254.4(TBK1):c.1532C>T (p.Ser511Phe)
NM_013254.4(TBK1):c.1566C>G (p.Ile522Met) rs375618295
NM_013254.4(TBK1):c.1580C>G (p.Ser527Cys) rs922333386
NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro) rs1192216525
NM_013254.4(TBK1):c.1612C>T (p.His538Tyr)
NM_013254.4(TBK1):c.1622G>A (p.Gly541Asp) rs2040917422
NM_013254.4(TBK1):c.1631C>T (p.Pro544Leu)
NM_013254.4(TBK1):c.1675A>G (p.Met559Val)
NM_013254.4(TBK1):c.1691A>G (p.Tyr564Cys) rs776059942
NM_013254.4(TBK1):c.1717C>A (p.Arg573Ser)
NM_013254.4(TBK1):c.1720+2dup rs2136087264
NM_013254.4(TBK1):c.1727C>G (p.Ala576Gly) rs767446906
NM_013254.4(TBK1):c.172G>A (p.Val58Met) rs1042991833
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.1761-3C>G
NM_013254.4(TBK1):c.1803T>G (p.Phe601Leu) rs1565824642
NM_013254.4(TBK1):c.1816G>A (p.Val606Ile) rs2136088188
NM_013254.4(TBK1):c.1876C>A (p.Leu626Ile) rs2136088345
NM_013254.4(TBK1):c.1879A>G (p.Arg627Gly)
NM_013254.4(TBK1):c.1887G>C (p.Gln629His) rs752047246
NM_013254.4(TBK1):c.1889TAT[1] (p.Leu631del) rs2136088359
NM_013254.4(TBK1):c.1952C>A (p.Thr651Asn) rs1592376939
NM_013254.4(TBK1):c.1991C>T (p.Thr664Ile)
NM_013254.4(TBK1):c.2035A>G (p.Ser679Gly) rs2136089009
NM_013254.4(TBK1):c.2048T>C (p.Leu683Ser) rs1306279522
NM_013254.4(TBK1):c.2067-7T>A rs1187318445
NM_013254.4(TBK1):c.2067-7_2067-3del
NM_013254.4(TBK1):c.2069T>G (p.Met690Arg)
NM_013254.4(TBK1):c.2075A>G (p.Lys692Arg)
NM_013254.4(TBK1):c.2078T>C (p.Leu693Ser) rs2136089194
NM_013254.4(TBK1):c.2080_2082del (p.Lys694del) rs2040947403
NM_013254.4(TBK1):c.2095G>A (p.Gly699Arg)
NM_013254.4(TBK1):c.2125_2133del (p.His709_Leu711del)
NM_013254.4(TBK1):c.2129T>A (p.Ile710Asn)
NM_013254.4(TBK1):c.2139G>T (p.Arg713Ser) rs2136092217
NM_013254.4(TBK1):c.2155A>G (p.Met719Val)
NM_013254.4(TBK1):c.2165G>A (p.Gly722Asp)
NM_013254.4(TBK1):c.2167C>G (p.Leu723Val) rs2136092255
NM_013254.4(TBK1):c.2171G>A (p.Arg724His)
NM_013254.4(TBK1):c.2174A>G (p.Asn725Ser) rs2136092274
NM_013254.4(TBK1):c.2176G>A (p.Val726Ile)
NM_013254.4(TBK1):c.217A>G (p.Ile73Val)
NM_013254.4(TBK1):c.2185C>T (p.Leu729Phe)
NM_013254.4(TBK1):c.228+4A>C rs2136056750
NM_013254.4(TBK1):c.230C>T (p.Thr77Ile)
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013254.4(TBK1):c.236C>G (p.Thr79Arg)
NM_013254.4(TBK1):c.236C>T (p.Thr79Ile)
NM_013254.4(TBK1):c.253A>G (p.Ile85Val)
NM_013254.4(TBK1):c.286A>G (p.Thr96Ala)
NM_013254.4(TBK1):c.289G>A (p.Val97Ile)
NM_013254.4(TBK1):c.292T>A (p.Leu98Ile) rs767134050
NM_013254.4(TBK1):c.2T>C (p.Met1Thr)
NM_013254.4(TBK1):c.350G>A (p.Arg117Gln)
NM_013254.4(TBK1):c.353A>T (p.Asp118Val)
NM_013254.4(TBK1):c.358+5G>A rs2136061124
NM_013254.4(TBK1):c.385A>T (p.Asn129Tyr)
NM_013254.4(TBK1):c.401G>A (p.Arg134His)
NM_013254.4(TBK1):c.41T>C (p.Ile14Thr) rs2136052738
NM_013254.4(TBK1):c.422T>C (p.Ile141Thr)
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys) rs1027249002
NM_013254.4(TBK1):c.428G>A (p.Arg143His)
NM_013254.4(TBK1):c.430G>A (p.Val144Ile)
NM_013254.4(TBK1):c.440A>G (p.Glu147Gly)
NM_013254.4(TBK1):c.452C>G (p.Ser151Cys) rs55824172
NM_013254.4(TBK1):c.452C>T (p.Ser151Phe) rs55824172
NM_013254.4(TBK1):c.511G>A (p.Val171Ile) rs2136063606
NM_013254.4(TBK1):c.527C>T (p.Thr176Ile) rs2136063629
NM_013254.4(TBK1):c.533A>G (p.Glu178Gly)
NM_013254.4(TBK1):c.535T>C (p.Tyr179His) rs2136063631
NM_013254.4(TBK1):c.541-3T>G rs747738866
NM_013254.4(TBK1):c.550A>G (p.Met184Val)
NM_013254.4(TBK1):c.563C>T (p.Ala188Val)
NM_013254.4(TBK1):c.574A>G (p.Lys192Glu) rs781700275
NM_013254.4(TBK1):c.591A>C (p.Lys197Asn)
NM_013254.4(TBK1):c.5A>G (p.Gln2Arg)
NM_013254.4(TBK1):c.629C>T (p.Thr210Ile) rs2136069875
NM_013254.4(TBK1):c.641C>A (p.Ala214Glu)
NM_013254.4(TBK1):c.649G>A (p.Gly217Arg)
NM_013254.4(TBK1):c.64A>G (p.Asn22Asp) rs576726084
NM_013254.4(TBK1):c.731G>T (p.Gly244Val)
NM_013254.4(TBK1):c.758A>C (p.Glu253Ala)
NM_013254.4(TBK1):c.763G>A (p.Gly255Arg)
NM_013254.4(TBK1):c.770T>C (p.Ile257Thr) rs1555203984
NM_013254.4(TBK1):c.794T>C (p.Val265Ala)
NM_013254.4(TBK1):c.79A>G (p.Arg27Gly)
NM_013254.4(TBK1):c.805C>G (p.Leu269Val)
NM_013254.4(TBK1):c.813-3T>C rs2040770701
NM_013254.4(TBK1):c.82_83delinsTT (p.His28Phe) rs2136052800
NM_013254.4(TBK1):c.880G>A (p.Gly294Ser)
NM_013254.4(TBK1):c.905C>G (p.Thr302Ser)
NM_013254.4(TBK1):c.935A>G (p.His312Arg)
NM_013444.4(UBQLN2):c.1013C>T (p.Thr338Ile) rs917131397
NM_013444.4(UBQLN2):c.1028G>A (p.Gly343Asp)
NM_013444.4(UBQLN2):c.1040G>A (p.Ser347Asn)
NM_013444.4(UBQLN2):c.1049C>T (p.Thr350Ile)
NM_013444.4(UBQLN2):c.1060G>A (p.Val354Ile) rs748840115
NM_013444.4(UBQLN2):c.1060G>C (p.Val354Leu)
NM_013444.4(UBQLN2):c.1081G>A (p.Ala361Thr)
NM_013444.4(UBQLN2):c.1112G>A (p.Ser371Asn)
NM_013444.4(UBQLN2):c.1275G>T (p.Gln425His)
NM_013444.4(UBQLN2):c.1279C>G (p.Arg427Gly) rs2068634857
NM_013444.4(UBQLN2):c.1391C>T (p.Thr464Ile)
NM_013444.4(UBQLN2):c.1474G>T (p.Val492Leu) rs756653207
NM_013444.4(UBQLN2):c.1481C>T (p.Pro494Leu)
NM_013444.4(UBQLN2):c.1486A>G (p.Thr496Ala) rs2146636525
NM_013444.4(UBQLN2):c.1490C>G (p.Pro497Arg) rs387906709
NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu) rs387906709
NM_013444.4(UBQLN2):c.1503A>G (p.Ile501Met)
NM_013444.4(UBQLN2):c.1523C>A (p.Thr508Asn)
NM_013444.4(UBQLN2):c.1568C>T (p.Ala523Val)
NM_013444.4(UBQLN2):c.1573C>G (p.Pro525Ala)
NM_013444.4(UBQLN2):c.1574C>T (p.Pro525Leu) rs1602589802
NM_013444.4(UBQLN2):c.1579T>C (p.Ser527Pro)
NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)
NM_013444.4(UBQLN2):c.1624G>T (p.Ala542Ser)
NM_013444.4(UBQLN2):c.1722G>T (p.Gln574His)
NM_013444.4(UBQLN2):c.1733C>T (p.Pro578Leu)
NM_013444.4(UBQLN2):c.1794A>T (p.Glu598Asp)
NM_013444.4(UBQLN2):c.180G>T (p.Ala60=)
NM_013444.4(UBQLN2):c.278A>G (p.His93Arg) rs2146635699
NM_013444.4(UBQLN2):c.286C>A (p.Leu96Met)
NM_013444.4(UBQLN2):c.320G>A (p.Arg107Gln) rs1602589042
NM_013444.4(UBQLN2):c.364A>G (p.Asn122Asp)
NM_013444.4(UBQLN2):c.368C>G (p.Thr123Ser)
NM_013444.4(UBQLN2):c.401C>T (p.Thr134Ile)
NM_013444.4(UBQLN2):c.431G>A (p.Gly144Glu)
NM_013444.4(UBQLN2):c.440G>T (p.Ser147Ile)
NM_013444.4(UBQLN2):c.464G>A (p.Ser155Asn)
NM_013444.4(UBQLN2):c.494C>T (p.Ser165Phe)
NM_013444.4(UBQLN2):c.49C>T (p.Pro17Ser)
NM_013444.4(UBQLN2):c.4G>T (p.Ala2Ser)
NM_013444.4(UBQLN2):c.56C>T (p.Ala19Val) rs2146635566
NM_013444.4(UBQLN2):c.645T>G (p.Ile215Met)
NM_013444.4(UBQLN2):c.648G>T (p.Gln216His)
NM_013444.4(UBQLN2):c.69G>A (p.Ser23=)
NM_013444.4(UBQLN2):c.724G>A (p.Ala242Thr) rs1360902821
NM_013444.4(UBQLN2):c.76G>T (p.Ala26Ser)
NM_013444.4(UBQLN2):c.779G>A (p.Ser260Asn)
NM_013444.4(UBQLN2):c.823A>C (p.Ile275Leu)
NM_013444.4(UBQLN2):c.845C>T (p.Ala282Val)
NM_013444.4(UBQLN2):c.847G>A (p.Ala283Thr) rs749463696
NM_013444.4(UBQLN2):c.857A>G (p.Gln286Arg) rs2146636094
NM_013444.4(UBQLN2):c.938G>A (p.Arg313His) rs2068632850
NM_013444.4(UBQLN2):c.968C>T (p.Pro323Leu) rs1555977386
NM_013444.4(UBQLN2):c.977C>T (p.Thr326Ile)
NM_014043.4(CHMP2B):c.142A>G (p.Lys48Glu)
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
NM_014043.4(CHMP2B):c.253A>G (p.Met85Val)
NM_014043.4(CHMP2B):c.266_269del (p.Thr89fs)
NM_014043.4(CHMP2B):c.268A>G (p.Lys90Glu) rs1706202120
NM_014043.4(CHMP2B):c.287T>C (p.Met96Thr) rs2106908498
NM_014043.4(CHMP2B):c.32A>T (p.Asp11Val)
NM_014043.4(CHMP2B):c.339C>G (p.Asn113Lys) rs747904374
NM_014043.4(CHMP2B):c.34+6T>C
NM_014043.4(CHMP2B):c.362C>T (p.Thr121Ile)
NM_014043.4(CHMP2B):c.379A>G (p.Asn127Asp)
NM_014043.4(CHMP2B):c.421A>G (p.Met141Val) rs1706285788
NM_014043.4(CHMP2B):c.427A>G (p.Asn143Asp) rs2106916834
NM_014043.4(CHMP2B):c.438TGA[1] (p.Asp148del)
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr) rs63750653
NM_014043.4(CHMP2B):c.535del (p.Ala179fs)
NM_014043.4(CHMP2B):c.548C>G (p.Ser183Ter)
NM_014043.4(CHMP2B):c.554C>A (p.Ala185Asp) rs2106917283
NM_014043.4(CHMP2B):c.589A>G (p.Thr197Ala)
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln) rs750217435
NM_014043.4(CHMP2B):c.614G>T (p.Arg205Leu)
NM_014043.4(CHMP2B):c.632G>C (p.Gly211Ala)
NM_014043.4(CHMP2B):c.71C>T (p.Thr24Ile)
NM_014043.4(CHMP2B):c.82A>G (p.Ile28Val)
NM_014043.4(CHMP2B):c.90A>C (p.Arg30Ser) rs775142652
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys) rs1554821963
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser) rs2131461800
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr) rs754200234
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
NM_015046.7(SETX):c.14G>C (p.Cys5Ser) rs1589791895
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala) rs2131460183
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp) rs1847120441
NM_015046.7(SETX):c.173A>G (p.His58Arg)
NM_015046.7(SETX):c.177+6A>G rs2131575018
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys) rs1339144218
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly) rs2131454695
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
NM_015046.7(SETX):c.2303A>T (p.Lys768Met) rs1554821462
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu) rs2131453786
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile) rs1554821445
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
NM_015046.7(SETX):c.2516A>T (p.His839Leu) rs1847047743
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg) rs774820992
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu) rs2131450530
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn) rs1258279869
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val) rs931570379
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp) rs1278965355
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala) rs866546546
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
NM_015046.7(SETX):c.3422A>T (p.His1141Leu) rs1554820904
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr) rs1846954116
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala) rs1846942479
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe) rs2131440671
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg) rs1467137301
NM_015046.7(SETX):c.3737A>C (p.His1246Pro) rs2131440106
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del) rs2131439346
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.388+8T>G
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys) rs199974622
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val) rs1554820219
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys) rs2131431252
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser) rs1554820196
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr) rs781383567
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser) rs1846817047
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu) rs1846757741
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu) rs2131306081
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro) rs1844774142
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5949+4_5949+7del rs1844702677
NM_015046.7(SETX):c.5949G>A (p.Glu1983=) rs2131289331
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser) rs2131284986
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.6107-3C>T
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys) rs762479596
NM_015046.7(SETX):c.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
NM_015046.7(SETX):c.6209-12T>G
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>G
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val) rs1589647043
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly) rs957607977
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln) rs1387036733
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.64G>T (p.Ala22Ser) rs756600708
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys) rs1843647719
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu) rs1843510567
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6654+5G>A rs1843497922
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys) rs2131182464
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu) rs1843274414
NM_015046.7(SETX):c.6808A>C (p.Asn2270His) rs1843272035
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala) rs1843271572
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-16T>C
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp) rs2131148064
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe) rs150489999
NM_015046.7(SETX):c.7200-3T>C
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
NM_015046.7(SETX):c.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
NM_015046.7(SETX):c.7370A>G (p.His2457Arg) rs753051382
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
NM_015046.7(SETX):c.7427C>A (p.Pro2476His) rs767515528
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser) rs771027936
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys) rs2131114345
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn) rs1564464193
NM_015046.7(SETX):c.7530C>G (p.His2510Gln) rs1303389955
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser) rs557347174
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys) rs2131113325
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp) rs2131113303
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg) rs2131113093
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter) rs1039417117
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly) rs2131112014
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer) rs2131111712
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr) rs979454428
NM_015046.7(SETX):c.784A>G (p.Lys262Glu) rs2131492208
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu) rs372128042
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe) rs749691951
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser) rs1404319370
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly) rs2118980284
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln) rs373193552
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg) rs1828647523
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val) rs754046728
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val) rs140199968
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr) rs2118975671
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser) rs561283125
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu) rs767942736
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del) rs755175121
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs) rs1828567719
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr) rs1561938220
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
NM_018834.6(MATR3):c.1130-15T>A
NM_018834.6(MATR3):c.1130-15T>C
NM_018834.6(MATR3):c.1130-8C>G
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
NM_018834.6(MATR3):c.1182+4A>C rs2151988816
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn) rs2151995266
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn) rs1581251198
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn) rs1033118784
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile) rs2152007107
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser) rs2152007192
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg) rs2152009933
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr) rs1357612214
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg) rs2152010076
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp) rs1755638457
NM_018834.6(MATR3):c.1912G>C (p.Asp638His) rs1554148872
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala) rs2152010206
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser) rs765603068
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
NM_018834.6(MATR3):c.1929G>C (p.Gln643His) rs553655919
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu) rs749026971
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
NM_018834.6(MATR3):c.2038G>C (p.Asp680His) rs752161415
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr) rs765251685
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn) rs2152010949
NM_018834.6(MATR3):c.2148+3A>G
NM_018834.6(MATR3):c.2149-5T>C
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
NM_018834.6(MATR3):c.2170G>C (p.Asp724His) rs1452903586
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val) rs1235948155
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys) rs772833565
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly) rs762668138
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del) rs1016579955
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn) rs1755815403
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser) rs370051410
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg) rs2152024424
NM_018834.6(MATR3):c.2493+3A>G rs2152024439
NM_018834.6(MATR3):c.2494-14_2494-11del
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu) rs2152033705
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del) rs1232740498
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn) rs1460343731
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser) rs2151960855
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser) rs587777302
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe) rs1191529191
NM_018834.6(MATR3):c.493_495del (p.Ala165del) rs760040641
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp) rs138894013
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser) rs2151961098
NM_018834.6(MATR3):c.628_630del (p.Glu210del) rs1754795693
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu) rs2151961434
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile) rs1554146560
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
NM_018834.6(MATR3):c.832A>G (p.Ile278Val) rs765718462
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu) rs1318047828
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe) rs1754770320
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
NM_018834.6(MATR3):c.975-9T>G
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg) rs2148587188
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His) rs1569865241
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys)
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro) rs372001535
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del)
NM_020631.6(PLEKHG5):c.1080+5G>T rs1644623669
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys) rs2148585629
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala) rs1569861657
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu) rs1644599017
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe) rs1244644253
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu43_Ser44insGluGlu) rs760139855
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu) rs760139855
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
NM_020631.6(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu) rs1020039192
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met) rs1644590923
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser) rs1644590851
NM_020631.6(PLEKHG5):c.1163C>G (p.Pro388Arg) rs746094917
NM_020631.6(PLEKHG5):c.1166A>T (p.Glu389Val)
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His) rs568915094
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu) rs768648425
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala) rs1209779631
NM_020631.6(PLEKHG5):c.1282-7G>A rs780551776
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys) rs1569857188
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu) rs2148583756
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe)
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys) rs2148583545
NM_020631.6(PLEKHG5):c.1392+8C>T rs771832632
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr) rs2148583006
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met) rs1644551354
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn) rs1243221708
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn) rs2148582918
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg) rs2148582901
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met) rs534760199
NM_020631.6(PLEKHG5):c.1470G>T (p.Lys490Asn) rs2148582809
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) rs1644549269
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.6(PLEKHG5):c.1519G>A (p.Ala507Thr) rs868002197
NM_020631.6(PLEKHG5):c.1519G>C (p.Ala507Pro) rs868002197
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val) rs1464559999
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala)
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser) rs1214327374
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly) rs777277703
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu) rs1464358180
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr) rs761251191
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp) rs1480269028
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp)
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys) rs1046202834
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly) rs766560337
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
NM_020631.6(PLEKHG5):c.1801A>G (p.Met601Val) rs1156760922
NM_020631.6(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=)
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr) rs759538158
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro) rs1644500916
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr) rs1644500686
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu) rs1460646554
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly)
NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu) rs1046289350
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg)
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys) rs149089640
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly)
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala) rs1241363420
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu) rs1553173393
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp) rs761945225
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu) rs1553173388
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys) rs1020150780
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp) rs62639695
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu) rs960528373
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile) rs770641755
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val) rs1644484109
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala) rs1245961862
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn)
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His) rs1569839599
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val) rs1569836518
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr) rs1644465940
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys) rs768087057
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu) rs2148576538
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys) rs76625876
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala) rs779264802
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly) rs1287801386
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr) rs1180411078
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser) rs1390984037
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
NM_020631.6(PLEKHG5):c.265A>G (p.Thr89Ala) rs981552118
NM_020631.6(PLEKHG5):c.2664G>T (p.Gly888=) rs1569832075
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile) rs2148575479
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly) rs1247695536
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys) rs1644446616
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu) rs910647086
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu) rs376237905
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg) rs1644443857
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser) rs114619322
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del) rs781153386
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg) rs1320979244
NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp) rs780100460
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu) rs2148574527
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe) rs1337483830
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg) rs777368688
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu) rs777368688
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys) rs750720112
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro) rs2148574076
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
NM_020631.6(PLEKHG5):c.3011+6T>C rs1569827097
NM_020631.6(PLEKHG5):c.3012-17_3012-6del rs774593947
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
NM_020631.6(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu) rs141032388
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser) rs140687324
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn) rs759645488
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala) rs2148591381
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.6(PLEKHG5):c.407A>G (p.Tyr136Cys) rs986133840
NM_020631.6(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.6(PLEKHG5):c.415G>A (p.Gly139Arg) rs769529781
NM_020631.6(PLEKHG5):c.415G>C (p.Gly139Arg) rs769529781
NM_020631.6(PLEKHG5):c.431G>A (p.Arg144His) rs150152888
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu) rs150152888
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp)
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu)
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg)
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn) rs150772386
NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr) rs2148598223
NM_020631.6(PLEKHG5):c.503G>C (p.Ser168Thr) rs1346810555
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln) rs59117380
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly) rs372602993
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp) rs372602993
NM_020631.6(PLEKHG5):c.521C>T (p.Pro174Leu) rs1374927816
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser) rs1644682762
NM_020631.6(PLEKHG5):c.541G>C (p.Ala181Pro) rs527341275
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr) rs199503669
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr)
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys)
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly) rs1321100552
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del) rs1380854015
NM_020631.6(PLEKHG5):c.569G>A (p.Arg190His) rs770010475
NM_020631.6(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val) rs1159602956
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln) rs1259066437
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys) rs561283132
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg)
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His)
NM_020631.6(PLEKHG5):c.615C>G (p.Asn205Lys) rs2148589091
NM_020631.6(PLEKHG5):c.618G>T (p.Met206Ile) rs1644658818
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro) rs772232182
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val)
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys) rs1436222408
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu)
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln) rs1201574261
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro) rs1201574261
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr) rs550362834
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln) rs1280977628
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr) rs1569889912
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln) rs1644646685
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His) rs2148588292
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn) rs1644643276
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe)
NM_020631.6(PLEKHG5):c.89G>A (p.Arg30His) rs199745947
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del) rs1465693103
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del) rs2148588099
NM_020631.6(PLEKHG5):c.919G>C (p.Glu307Gln) rs148745591
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala) rs1644755304
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser)
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp)
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr)
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp) rs767511293
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile) rs1275790736
NM_020631.6(PLEKHG5):c.984+3G>A rs1282919159
NM_020631.6(PLEKHG5):c.985-6C>G rs1371350296
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys) rs2104379258
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr) rs140481686
NM_021815.5(SLC5A7):c.1046A>G (p.Asp349Gly) rs2104379374
NM_021815.5(SLC5A7):c.1072A>T (p.Met358Leu) rs762453964
NM_021815.5(SLC5A7):c.1096C>A (p.Leu366Ile) rs2104379560
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp) rs1206415590
NM_021815.5(SLC5A7):c.1114-10T>C
NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp)
NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys) rs935822553
NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)
NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys)
NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile) rs2104382635
NM_021815.5(SLC5A7):c.113G>A (p.Arg38His) rs1054170676
NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)
NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu) rs1678267305
NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)
NM_021815.5(SLC5A7):c.1184T>C (p.Met395Thr) rs556748289
NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met)
NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser) rs1558872383
NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met)
NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr) rs1677323077
NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)
NM_021815.5(SLC5A7):c.1262T>C (p.Leu421Pro) rs2104383027
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro) rs2104383051
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys) rs2104383095
NM_021815.5(SLC5A7):c.1300G>A (p.Gly434Arg) rs2104383123
NM_021815.5(SLC5A7):c.1306G>T (p.Val436Leu) rs148535388
NM_021815.5(SLC5A7):c.1316A>T (p.Tyr439Phe) rs2104383202
NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala) rs1446985615
NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His) rs1678278823
NM_021815.5(SLC5A7):c.1376T>C (p.Leu459Ser) rs145310206
NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)
NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser) rs1558872670
NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)
NM_021815.5(SLC5A7):c.1405G>A (p.Asp469Asn) rs1678280904
NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser) rs1678281220
NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)
NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg)
NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys) rs1323329132
NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)
NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)
NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys) rs1274120636
NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)
NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)
NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile)
NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)
NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)
NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)
NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met)
NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)
NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly)
NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His)
NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)
NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile) rs199693962
NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)
NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala)
NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala) rs1558872967
NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly) rs776499560
NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)
NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)
NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)
NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter) rs1678292762
NM_021815.5(SLC5A7):c.1601A>G (p.Asn534Ser) rs1678293099
NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser)
NM_021815.5(SLC5A7):c.1610T>C (p.Ile537Thr) rs1157492588
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser) rs1558873189
NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser)
NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser) rs747026995
NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)
NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp)
NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly) rs776388070
NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val) rs1553460067
NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala) rs202227094
NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr) rs1573619033
NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)
NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs)
NM_021815.5(SLC5A7):c.1721G>T (p.Gly574Val) rs1222691698
NM_021815.5(SLC5A7):c.1726G>A (p.Glu576Lys) rs763725923
NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)
NM_021815.5(SLC5A7):c.177A>G (p.Thr59=) rs1553457528
NM_021815.5(SLC5A7):c.178+4C>G
NM_021815.5(SLC5A7):c.178+6T>C rs1553457530
NM_021815.5(SLC5A7):c.179-2A>G rs2104340311
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu) rs886039765
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg) rs753442687
NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)
NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu) rs1573592052
NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val) rs1177599655
NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val) rs1558859918
NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)
NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr) rs543338077
NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe) rs60964124
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile) rs1172822464
NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)
NM_021815.5(SLC5A7):c.292+1G>A rs1677478183
NM_021815.5(SLC5A7):c.292+5G>C
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) rs886039766
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs) rs2104342591
NM_021815.5(SLC5A7):c.376A>G (p.Met126Val) rs371931981
NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr)
NM_021815.5(SLC5A7):c.378G>A (p.Met126Ile) rs1336840043
NM_021815.5(SLC5A7):c.37G>A (p.Val13Met) rs1677319788
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
NM_021815.5(SLC5A7):c.406A>G (p.Met136Val)
NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys) rs1558860651
NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr) rs1558860658
NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu) rs1677517934
NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu) rs1558857378
NM_021815.5(SLC5A7):c.448+6G>A
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr) rs1677727536
NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)
NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val)
NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)
NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val) rs143876748
NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)
NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe)
NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)
NM_021815.5(SLC5A7):c.517A>T (p.Thr173Ser) rs2104354270
NM_021815.5(SLC5A7):c.518C>A (p.Thr173Asn) rs746514670
NM_021815.5(SLC5A7):c.518C>T (p.Thr173Ile) rs746514670
NM_021815.5(SLC5A7):c.529C>A (p.Leu177Met) rs2104354340
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
NM_021815.5(SLC5A7):c.568G>C (p.Val190Leu) rs541031936
NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg)
NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val)
NM_021815.5(SLC5A7):c.583A>G (p.Ile195Val) rs776668635
NM_021815.5(SLC5A7):c.598-12T>C
NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg)
NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)
NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile)
NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu)
NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr) rs763744412
NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile)
NM_021815.5(SLC5A7):c.656C>T (p.Ala219Val) rs2104364447
NM_021815.5(SLC5A7):c.663T>A (p.His221Gln) rs2104364491
NM_021815.5(SLC5A7):c.679C>T (p.Pro227Ser) rs1035258430
NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg) rs1677927136
NM_021815.5(SLC5A7):c.703T>G (p.Ser235Ala) rs1677928025
NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg)
NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser)
NM_021815.5(SLC5A7):c.742-3C>T rs995989817
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val) rs2104332660
NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)
NM_021815.5(SLC5A7):c.779G>T (p.Arg260Met) rs1678107773
NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys) rs1259002559
NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)
NM_021815.5(SLC5A7):c.800C>T (p.Ala267Val) rs761583647
NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys)
NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala) rs772699592
NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter) rs1677321281
NM_021815.5(SLC5A7):c.827T>C (p.Leu276Pro) rs2104373588
NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)
NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr) rs2104373775
NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val) rs1553459529
NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val)
NM_021815.5(SLC5A7):c.895+1G>C rs1678115852
NM_021815.5(SLC5A7):c.895+4A>G
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln) rs1307429820
NM_021815.5(SLC5A7):c.949G>T (p.Asp317Tyr) rs1678201892
NM_021815.5(SLC5A7):c.952A>G (p.Met318Val) rs1678202004
NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)
NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)
NM_205836.3(FBXO38):c.1073T>A (p.Val358Glu)
NM_205836.3(FBXO38):c.1093+2T>A rs1554079701
NM_205836.3(FBXO38):c.1096A>C (p.Arg366=)
NM_205836.3(FBXO38):c.1109C>T (p.Ala370Val)
NM_205836.3(FBXO38):c.1123T>C (p.Tyr375His)
NM_205836.3(FBXO38):c.1132G>T (p.Ala378Ser)
NM_205836.3(FBXO38):c.1154G>T (p.Gly385Val) rs1554080059
NM_205836.3(FBXO38):c.1156A>G (p.Ile386Val)
NM_205836.3(FBXO38):c.1159A>G (p.Ile387Val) rs1271122205
NM_205836.3(FBXO38):c.1174A>G (p.Met392Val)
NM_205836.3(FBXO38):c.1190A>G (p.Glu397Gly)
NM_205836.3(FBXO38):c.1202G>C (p.Cys401Ser)
NM_205836.3(FBXO38):c.1208A>G (p.Lys403Arg)
NM_205836.3(FBXO38):c.1219A>G (p.Ile407Val)
NM_205836.3(FBXO38):c.1253A>G (p.Asn418Ser)
NM_205836.3(FBXO38):c.1258A>G (p.Ile420Val) rs1752930598
NM_205836.3(FBXO38):c.1273A>G (p.Arg425Gly)
NM_205836.3(FBXO38):c.1275A>G (p.Arg425=) rs1753027554
NM_205836.3(FBXO38):c.128+6A>G
NM_205836.3(FBXO38):c.1283G>A (p.Arg428Gln)
NM_205836.3(FBXO38):c.1284A>G (p.Arg428=) rs138223855
NM_205836.3(FBXO38):c.1307G>A (p.Arg436Gln)
NM_205836.3(FBXO38):c.1310G>T (p.Cys437Phe) rs1554080351
NM_205836.3(FBXO38):c.1329C>A (p.Asp443Glu) rs770394960
NM_205836.3(FBXO38):c.1353A>C (p.Leu451Phe)
NM_205836.3(FBXO38):c.1357C>T (p.Pro453Ser)
NM_205836.3(FBXO38):c.135C>G (p.Leu45=)
NM_205836.3(FBXO38):c.137C>T (p.Pro46Leu) rs1403533819
NM_205836.3(FBXO38):c.1387A>C (p.Met463Leu) rs2113584815
NM_205836.3(FBXO38):c.13A>C (p.Lys5Gln)
NM_205836.3(FBXO38):c.1417C>T (p.Arg473Ter) rs1172459945
NM_205836.3(FBXO38):c.1418G>A (p.Arg473Gln) rs770228743
NM_205836.3(FBXO38):c.1454C>G (p.Ser485Ter)
NM_205836.3(FBXO38):c.1471A>C (p.Asn491His) rs1561531225
NM_205836.3(FBXO38):c.1484A>G (p.Asn495Ser)
NM_205836.3(FBXO38):c.1487A>G (p.Asn496Ser) rs1315072548
NM_205836.3(FBXO38):c.1492G>A (p.Asp498Asn)
NM_205836.3(FBXO38):c.1493A>G (p.Asp498Gly)
NM_205836.3(FBXO38):c.1513A>G (p.Asn505Asp) rs1753101306
NM_205836.3(FBXO38):c.1533C>G (p.Asn511Lys)
NM_205836.3(FBXO38):c.1535A>G (p.Asn512Ser)
NM_205836.3(FBXO38):c.1537C>G (p.His513Asp) rs1753104074
NM_205836.3(FBXO38):c.1576C>T (p.Arg526Trp)
NM_205836.3(FBXO38):c.157A>T (p.Met53Leu)
NM_205836.3(FBXO38):c.1617C>T (p.Asp539=)
NM_205836.3(FBXO38):c.1642G>A (p.Val548Ile) rs751449877
NM_205836.3(FBXO38):c.1663G>A (p.Val555Met) rs1012140873
NM_205836.3(FBXO38):c.1669G>A (p.Glu557Lys)
NM_205836.3(FBXO38):c.1670A>G (p.Glu557Gly)
NM_205836.3(FBXO38):c.1678A>C (p.Asn560His)
NM_205836.3(FBXO38):c.1682A>G (p.Asn561Ser) rs1554081337
NM_205836.3(FBXO38):c.1685C>A (p.Thr562Asn) rs748051444
NM_205836.3(FBXO38):c.1720G>T (p.Val574Phe)
NM_205836.3(FBXO38):c.172C>T (p.Arg58Trp)
NM_205836.3(FBXO38):c.173G>T (p.Arg58Leu)
NM_205836.3(FBXO38):c.1757G>C (p.Arg586Pro) rs369833842
NM_205836.3(FBXO38):c.1774T>G (p.Ser592Ala) rs10043775
NM_205836.3(FBXO38):c.1791T>G (p.Asp597Glu) rs1554081566
NM_205836.3(FBXO38):c.17A>G (p.Lys6Arg)
NM_205836.3(FBXO38):c.1801G>T (p.Asp601Tyr) rs2113621540
NM_205836.3(FBXO38):c.1805del (p.Asp602fs)
NM_205836.3(FBXO38):c.1806T>A (p.Asp602Glu) rs1222414075
NM_205836.3(FBXO38):c.1813G>C (p.Asp605His)
NM_205836.3(FBXO38):c.1829A>C (p.Gln610Pro) rs771845635
NM_205836.3(FBXO38):c.183G>T (p.Lys61Asn)
NM_205836.3(FBXO38):c.1840A>G (p.Ile614Val)
NM_205836.3(FBXO38):c.1872A>T (p.Glu624Asp)
NM_205836.3(FBXO38):c.1874G>A (p.Arg625His)
NM_205836.3(FBXO38):c.188C>T (p.Ala63Val) rs2113521830
NM_205836.3(FBXO38):c.1914G>C (p.Leu638Phe)
NM_205836.3(FBXO38):c.1918+3G>A rs758236031
NM_205836.3(FBXO38):c.1919-2A>C rs2113627058
NM_205836.3(FBXO38):c.1922G>A (p.Ser641Asn)
NM_205836.3(FBXO38):c.193A>G (p.Thr65Ala)
NM_205836.3(FBXO38):c.1945C>T (p.Arg649Ter)
NM_205836.3(FBXO38):c.1946G>A (p.Arg649Gln)
NM_205836.3(FBXO38):c.1953G>C (p.Arg651Ser) rs2113627223
NM_205836.3(FBXO38):c.1970T>A (p.Met657Lys) rs1753763617
NM_205836.3(FBXO38):c.1989T>G (p.Phe663Leu)
NM_205836.3(FBXO38):c.1991C>T (p.Pro664Leu)
NM_205836.3(FBXO38):c.199T>A (p.Tyr67Asn) rs1751991718
NM_205836.3(FBXO38):c.1A>G (p.Met1Val) rs1758391504
NM_205836.3(FBXO38):c.2008T>C (p.Cys670Arg)
NM_205836.3(FBXO38):c.2050G>T (p.Asp684Tyr)
NM_205836.3(FBXO38):c.2057A>C (p.Lys686Thr)
NM_205836.3(FBXO38):c.2062G>T (p.Ala688Ser)
NM_205836.3(FBXO38):c.2069A>T (p.Asp690Val)
NM_205836.3(FBXO38):c.2072T>C (p.Ile691Thr) rs765514195
NM_205836.3(FBXO38):c.2089A>G (p.Asn697Asp)
NM_205836.3(FBXO38):c.2096A>T (p.Asp699Val) rs1262248200
NM_205836.3(FBXO38):c.209T>C (p.Val70Ala)
NM_205836.3(FBXO38):c.2114G>A (p.Ser705Asn)
NM_205836.3(FBXO38):c.2128A>G (p.Ser710Gly) rs2113627979
NM_205836.3(FBXO38):c.2131A>C (p.Thr711Pro)
NM_205836.3(FBXO38):c.2134G>C (p.Val712Leu) rs1753773505
NM_205836.3(FBXO38):c.2135T>C (p.Val712Ala)
NM_205836.3(FBXO38):c.2152C>T (p.His718Tyr)
NM_205836.3(FBXO38):c.2164T>C (p.Ser722Pro)
NM_205836.3(FBXO38):c.2171G>A (p.Ser724Asn)
NM_205836.3(FBXO38):c.2177A>C (p.Asp726Ala) rs2113628246
NM_205836.3(FBXO38):c.2182G>A (p.Val728Ile) rs763198382
NM_205836.3(FBXO38):c.218_247del (p.Val73_Trp82del) rs1751992784
NM_205836.3(FBXO38):c.2231T>C (p.Val744Ala)
NM_205836.3(FBXO38):c.2257T>G (p.Ser753Ala) rs1188977922
NM_205836.3(FBXO38):c.2263G>A (p.Gly755Ser)
NM_205836.3(FBXO38):c.2275G>A (p.Asp759Asn) rs1300558545
NM_205836.3(FBXO38):c.22G>A (p.Val8Met)
NM_205836.3(FBXO38):c.2326T>C (p.Cys776Arg) rs1400525129
NM_205836.3(FBXO38):c.2338A>G (p.Arg780Gly)
NM_205836.3(FBXO38):c.2340G>T (p.Arg780Ser) rs143193609
NM_205836.3(FBXO38):c.2341C>A (p.Pro781Thr) rs116266000
NM_205836.3(FBXO38):c.2362A>C (p.Thr788Pro)
NM_205836.3(FBXO38):c.2367C>G (p.Ser789Arg)
NM_205836.3(FBXO38):c.2377G>A (p.Asp793Asn)
NM_205836.3(FBXO38):c.2378A>G (p.Asp793Gly)
NM_205836.3(FBXO38):c.238C>T (p.Arg80Trp)
NM_205836.3(FBXO38):c.2395A>G (p.Thr799Ala)
NM_205836.3(FBXO38):c.2402G>T (p.Arg801Leu) rs751618541
NM_205836.3(FBXO38):c.2404G>A (p.Ala802Thr)
NM_205836.3(FBXO38):c.2407T>C (p.Cys803Arg) rs1161148986
NM_205836.3(FBXO38):c.2425G>T (p.Asp809Tyr)
NM_205836.3(FBXO38):c.2426A>C (p.Asp809Ala)
NM_205836.3(FBXO38):c.2432C>T (p.Thr811Met)
NM_205836.3(FBXO38):c.247G>A (p.Glu83Lys)
NM_205836.3(FBXO38):c.261T>A (p.Ser87Arg)
NM_205836.3(FBXO38):c.2671C>T (p.Pro891Ser)
NM_205836.3(FBXO38):c.2684T>C (p.Met895Thr)
NM_205836.3(FBXO38):c.2714C>G (p.Thr905Ser)
NM_205836.3(FBXO38):c.2746C>T (p.His916Tyr) rs2113648332
NM_205836.3(FBXO38):c.274G>T (p.Ala92Ser)
NM_205836.3(FBXO38):c.2755G>A (p.Val919Ile) rs1554082512
NM_205836.3(FBXO38):c.2800A>T (p.Asn934Tyr)
NM_205836.3(FBXO38):c.2818C>G (p.Leu940Val) rs1347172293
NM_205836.3(FBXO38):c.2857+3A>G
NM_205836.3(FBXO38):c.2905A>G (p.Ile969Val) rs373620719
NM_205836.3(FBXO38):c.2908G>T (p.Val970Leu) rs1754471311
NM_205836.3(FBXO38):c.2915G>A (p.Arg972Gln)
NM_205836.3(FBXO38):c.2924A>G (p.Tyr975Cys)
NM_205836.3(FBXO38):c.2941C>G (p.Leu981Val)
NM_205836.3(FBXO38):c.2978T>C (p.Met993Thr)
NM_205836.3(FBXO38):c.2981C>T (p.Pro994Leu)
NM_205836.3(FBXO38):c.2993A>G (p.Asn998Ser) rs1293617168
NM_205836.3(FBXO38):c.3001A>G (p.Ile1001Val)
NM_205836.3(FBXO38):c.3024+6G>A rs146510581
NM_205836.3(FBXO38):c.3032C>T (p.Thr1011Ile)
NM_205836.3(FBXO38):c.3105C>A (p.Asn1035Lys)
NM_205836.3(FBXO38):c.310G>A (p.Val104Ile)
NM_205836.3(FBXO38):c.3119G>A (p.Arg1040Gln)
NM_205836.3(FBXO38):c.3131G>A (p.Arg1044His) rs1754565238
NM_205836.3(FBXO38):c.3136C>T (p.Arg1046Cys)
NM_205836.3(FBXO38):c.3137G>A (p.Arg1046His) rs145142109
NM_205836.3(FBXO38):c.3140G>A (p.Ser1047Asn) rs1208732580
NM_205836.3(FBXO38):c.3152C>T (p.Thr1051Ile)
NM_205836.3(FBXO38):c.3164T>C (p.Ile1055Thr)
NM_205836.3(FBXO38):c.3170+11_3170+12delinsCC
NM_205836.3(FBXO38):c.3185A>G (p.Tyr1062Cys)
NM_205836.3(FBXO38):c.3212G>C (p.Ser1071Thr) rs1044917671
NM_205836.3(FBXO38):c.3216AGA[1] (p.Glu1073del)
NM_205836.3(FBXO38):c.3218A>T (p.Glu1073Val) rs1581313648
NM_205836.3(FBXO38):c.3223T>G (p.Leu1075Val)
NM_205836.3(FBXO38):c.3226A>G (p.Lys1076Glu)
NM_205836.3(FBXO38):c.3265A>C (p.Thr1089Pro) rs1049321456
NM_205836.3(FBXO38):c.326G>A (p.Gly109Asp) rs2113531978
NM_205836.3(FBXO38):c.3274+4A>T
NM_205836.3(FBXO38):c.3284A>T (p.Asp1095Val)
NM_205836.3(FBXO38):c.3335G>A (p.Arg1112Gln)
NM_205836.3(FBXO38):c.3354C>G (p.Ser1118Arg) rs147580008
NM_205836.3(FBXO38):c.3367G>A (p.Asp1123Asn)
NM_205836.3(FBXO38):c.337C>T (p.Arg113Ter) rs1306910725
NM_205836.3(FBXO38):c.3383A>G (p.Glu1128Gly)
NM_205836.3(FBXO38):c.3387A>C (p.Glu1129Asp)
NM_205836.3(FBXO38):c.3392C>G (p.Thr1131Ser)
NM_205836.3(FBXO38):c.341A>G (p.Tyr114Cys) rs1433144114
NM_205836.3(FBXO38):c.3433A>T (p.Ile1145Phe)
NM_205836.3(FBXO38):c.3446C>T (p.Thr1149Ile) rs2113673143
NM_205836.3(FBXO38):c.3472C>T (p.Arg1158Cys)
NM_205836.3(FBXO38):c.3473G>T (p.Arg1158Leu)
NM_205836.3(FBXO38):c.34A>G (p.Ile12Val) rs1160174748
NM_205836.3(FBXO38):c.3547G>C (p.Val1183Leu)
NM_205836.3(FBXO38):c.3562A>T (p.Ile1188Phe)
NM_205836.3(FBXO38):c.358G>T (p.Val120Leu) rs2113532084
NM_205836.3(FBXO38):c.373G>A (p.Ala125Thr)
NM_205836.3(FBXO38):c.376T>C (p.Phe126Leu)
NM_205836.3(FBXO38):c.37A>T (p.Met13Leu)
NM_205836.3(FBXO38):c.405G>T (p.Leu135Phe)
NM_205836.3(FBXO38):c.448G>A (p.Glu150Lys)
NM_205836.3(FBXO38):c.473dup (p.Tyr158Ter)
NM_205836.3(FBXO38):c.474T>A (p.Tyr158Ter) rs2113533186
NM_205836.3(FBXO38):c.481C>T (p.His161Tyr)
NM_205836.3(FBXO38):c.484G>T (p.Val162Phe) rs2113533252
NM_205836.3(FBXO38):c.497G>A (p.Gly166Glu) rs1404180680
NM_205836.3(FBXO38):c.4G>A (p.Gly2Arg) rs1272218730
NM_205836.3(FBXO38):c.505C>T (p.Arg169Cys)
NM_205836.3(FBXO38):c.512G>A (p.Arg171His)
NM_205836.3(FBXO38):c.560T>C (p.Ile187Thr) rs1470214468
NM_205836.3(FBXO38):c.592+3G>A
NM_205836.3(FBXO38):c.617G>C (p.Cys206Ser) rs757064226
NM_205836.3(FBXO38):c.61A>G (p.Met21Val) rs1581225783
NM_205836.3(FBXO38):c.62T>C (p.Met21Thr)
NM_205836.3(FBXO38):c.633G>C (p.Arg211Ser) rs779718633
NM_205836.3(FBXO38):c.634C>T (p.His212Tyr) rs746462800
NM_205836.3(FBXO38):c.641A>G (p.Tyr214Cys)
NM_205836.3(FBXO38):c.679A>C (p.Lys227Gln) rs1581241597
NM_205836.3(FBXO38):c.688C>A (p.Leu230Ile) rs763481232
NM_205836.3(FBXO38):c.696C>T (p.Ile232=)
NM_205836.3(FBXO38):c.698G>A (p.Ser233Asn)
NM_205836.3(FBXO38):c.703A>G (p.Arg235Gly)
NM_205836.3(FBXO38):c.707C>T (p.Thr236Ile)
NM_205836.3(FBXO38):c.712G>C (p.Val238Leu) rs144890577
NM_205836.3(FBXO38):c.71A>G (p.Asp24Gly)
NM_205836.3(FBXO38):c.736A>T (p.Thr246Ser)
NM_205836.3(FBXO38):c.767C>T (p.Thr256Ile)
NM_205836.3(FBXO38):c.771C>T (p.Gly257=) rs1581244170
NM_205836.3(FBXO38):c.814G>A (p.Val272Ile)
NM_205836.3(FBXO38):c.856A>G (p.Ser286Gly)
NM_205836.3(FBXO38):c.869G>A (p.Gly290Asp)
NM_205836.3(FBXO38):c.880A>T (p.Asn294Tyr) rs1752601349
NM_205836.3(FBXO38):c.892A>G (p.Ile298Val)
NM_205836.3(FBXO38):c.898C>G (p.Leu300Val)
NM_205836.3(FBXO38):c.911A>G (p.Lys304Arg)
NM_205836.3(FBXO38):c.919C>T (p.Leu307Phe)
NM_205836.3(FBXO38):c.926T>G (p.Val309Gly) rs1752606337
NM_205836.3(FBXO38):c.976C>T (p.Arg326Trp) rs763613189
NM_205836.3(FBXO38):c.981C>G (p.Ile327Met)
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr) rs752472094
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu) rs1569151061
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) rs781304084
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) rs730880031
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) rs1926926045
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) rs1926925550
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg) rs2145926804
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) rs542541060
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) rs767069606
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) rs1555925855
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
NM_213720.3(CHCHD10):c.262-11T>A
NM_213720.3(CHCHD10):c.262-3C>G rs867521564
NM_213720.3(CHCHD10):c.262-4C>G
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) rs1926806684
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) rs564469294
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter) rs1926798746
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg) rs1348340557
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) rs1926995828
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) rs776781535
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val) rs2145924358
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) rs951686050
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) rs750293377
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg) rs964013488
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn) rs1926782349
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) rs1601354726
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg) rs2145924084
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val) rs1926990244
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
NM_213720.3(CHCHD10):c.41+9G>A
NM_213720.3(CHCHD10):c.410-3C>G
NM_213720.3(CHCHD10):c.410-3C>T rs767630947
NM_213720.3(CHCHD10):c.42-6C>G
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
Single allele

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