ClinVar Miner

List of variants reported as uncertain significance for complex hereditary spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3374
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) rs199781237 0.00072
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) rs149136930 0.00071
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) rs150772804 0.00059
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr) rs143671350 0.00058
NM_031448.6(C19orf12):c.343G>A (p.Glu115Lys) rs139422624 0.00056
NM_001166114.2(PNPLA6):c.795+3G>A rs375930477 0.00053
NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser) rs146329558 0.00051
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg) rs145994698 0.00048
NM_014844.5(TECPR2):c.3643G>A (p.Ala1215Thr) rs114136452 0.00048
NM_002361.4(MAG):c.439C>G (p.Pro147Ala) rs202205105 0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) rs144849839 0.00038
NM_012073.5(CCT5):c.895C>G (p.Leu299Val) rs141509761 0.00036
NM_015214.3(DDHD2):c.1130C>T (p.Ser377Leu) rs145943165 0.00036
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) rs140163897 0.00034
NM_015214.3(DDHD2):c.1720+6T>A rs189360898 0.00034
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr) rs139247564 0.00032
NM_006612.6(KIF1C):c.1165+3C>T rs199890307 0.00030
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) rs149022686 0.00029
NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg) rs138725425 0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
NM_022089.4(ATP13A2):c.1352G>A (p.Arg451Gln) rs138546275 0.00029
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) rs765179856 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) rs570605098 0.00026
NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu) rs143987985 0.00026
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser) rs752487771 0.00025
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) rs375363608 0.00025
NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr) rs373775451 0.00023
NM_002361.4(MAG):c.1117A>C (p.Ser373Arg) rs142375870 0.00022
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) rs141133834 0.00022
NM_015214.3(DDHD2):c.411+6C>T rs562827417 0.00021
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr) rs372658867 0.00021
NM_015161.3(ARL6IP1):c.490A>C (p.Ile164Leu) rs200377377 0.00019
NM_015214.3(DDHD2):c.1345G>T (p.Gly449Cys) rs199730711 0.00019
NM_025137.4(SPG11):c.2897G>A (p.Arg966His) rs200281262 0.00019
NM_001166114.2(PNPLA6):c.3397+6T>C rs764082245 0.00018
NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys) rs62072492 0.00018
NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln) rs148809600 0.00017
NM_014844.5(TECPR2):c.2807C>T (p.Pro936Leu) rs373173535 0.00017
NM_014844.5(TECPR2):c.3548C>T (p.Ala1183Val) rs146196522 0.00017
NM_002361.4(MAG):c.1405G>C (p.Val469Leu) rs200754835 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_001166114.2(PNPLA6):c.3428C>T (p.Thr1143Met) rs142294971 0.00015
NM_001351169.2(NT5C2):c.1665G>T (p.Glu555Asp) rs141031435 0.00015
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) rs374047257 0.00015
NM_022089.4(ATP13A2):c.1108C>T (p.Arg370Trp) rs142616130 0.00015
NM_001166114.2(PNPLA6):c.3997G>A (p.Ala1333Thr) rs143280550 0.00014
NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp) rs373128067 0.00014
NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) rs376516473 0.00014
NM_001776.6(ENTPD1):c.441G>C (p.Arg147Ser) rs142431233 0.00014
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln) rs771386671 0.00014
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) rs141291042 0.00014
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) rs146628704 0.00014
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val) rs373541138 0.00014
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met) rs140963558 0.00014
NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala) rs536338550 0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly) rs182080501 0.00014
NM_025137.4(SPG11):c.7039T>G (p.Trp2347Gly) rs146816632 0.00014
NM_031448.6(C19orf12):c.121G>A (p.Val41Ile) rs148797643 0.00014
NM_031448.6(C19orf12):c.305C>T (p.Thr102Met) rs139585199 0.00014
NM_001166114.2(PNPLA6):c.1096G>C (p.Ala366Pro) rs533164657 0.00013
NM_001166114.2(PNPLA6):c.3712C>G (p.Gln1238Glu) rs143072391 0.00013
NM_002361.4(MAG):c.1120G>A (p.Glu374Lys) rs201059845 0.00013
NM_002361.4(MAG):c.940G>T (p.Asp314Tyr) rs202087211 0.00013
NM_006612.6(KIF1C):c.701C>T (p.Thr234Met) rs201655443 0.00013
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) rs138168151 0.00013
NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr) rs200844941 0.00013
NM_014844.5(TECPR2):c.3602C>T (p.Thr1201Met) rs377706262 0.00013
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys) rs150645913 0.00013
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_025137.4(SPG11):c.2075T>C (p.Ile692Thr) rs144012151 0.00013
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro) rs376103979 0.00013
NM_001166114.2(PNPLA6):c.1222C>T (p.Arg408Cys) rs998008899 0.00012
NM_001166114.2(PNPLA6):c.2381A>G (p.Gln794Arg) rs138366337 0.00012
NM_002361.4(MAG):c.1274G>A (p.Arg425Gln) rs144213585 0.00012
NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln) rs566736417 0.00012
NM_006612.6(KIF1C):c.3217C>T (p.Pro1073Ser) rs199966544 0.00012
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val) rs201704673 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser) rs758675397 0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu) rs752619582 0.00012
NM_025137.4(SPG11):c.1126A>G (p.Asn376Asp) rs199765540 0.00012
NM_025137.4(SPG11):c.256C>G (p.His86Asp) rs773123413 0.00012
NM_025137.4(SPG11):c.6307A>G (p.Lys2103Glu) rs1199605323 0.00012
NM_001166114.2(PNPLA6):c.3691C>G (p.Gln1231Glu) rs375024068 0.00011
NM_001351169.2(NT5C2):c.1139A>G (p.His380Arg) rs138513368 0.00011
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) rs763310916 0.00011
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln) rs199969989 0.00011
NM_002361.4(MAG):c.1562T>G (p.Val521Gly) rs200859403 0.00011
NM_002361.4(MAG):c.1813C>T (p.Arg605Trp) rs73031735 0.00011
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg) rs145197911 0.00011
NM_006070.6(TFG):c.256C>G (p.Leu86Val) rs140174542 0.00011
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr) rs780219953 0.00011
NM_012073.5(CCT5):c.531-3C>T rs555534209 0.00011
NM_014844.5(TECPR2):c.818G>A (p.Arg273His) rs144069125 0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys) rs148534162 0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys) rs370421723 0.00011
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu) rs201902382 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.44G>A (p.Gly15Asp) rs763155228 0.00011
NM_031448.6(C19orf12):c.234G>A (p.Met78Ile) rs778586471 0.00011
NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys) rs373236811 0.00010
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln) rs201691969 0.00010
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) rs773314762 0.00010
NM_014844.5(TECPR2):c.2900C>T (p.Pro967Leu) rs140434256 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) rs372193709 0.00009
NM_001166114.2(PNPLA6):c.3181C>T (p.His1061Tyr) rs753273617 0.00009
NM_001166114.2(PNPLA6):c.3724G>A (p.Ala1242Thr) rs755872517 0.00009
NM_001351169.2(NT5C2):c.141G>C (p.Lys47Asn) rs72846108 0.00009
NM_001776.6(ENTPD1):c.1190T>C (p.Ile397Thr) rs142591047 0.00009
NM_001776.6(ENTPD1):c.229G>A (p.Val77Met) rs199915134 0.00009
NM_002361.4(MAG):c.325C>A (p.Pro109Thr) rs746889149 0.00009
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile) rs142746793 0.00009
NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr) rs752855724 0.00009
NM_014844.5(TECPR2):c.1784C>T (p.Thr595Met) rs150893437 0.00009
NM_014844.5(TECPR2):c.67A>G (p.Ile23Val) rs776524033 0.00009
NM_015214.3(DDHD2):c.1382C>T (p.Ala461Val) rs201386329 0.00009
NM_015214.3(DDHD2):c.1744A>T (p.Met582Leu) rs375064450 0.00009
NM_015214.3(DDHD2):c.1834T>G (p.Ser612Ala) rs142193606 0.00009
NM_015214.3(DDHD2):c.1873A>C (p.Thr625Pro) rs369779587 0.00009
NM_022089.4(ATP13A2):c.233G>A (p.Arg78Gln) rs773087322 0.00009
NM_022089.4(ATP13A2):c.2771G>A (p.Arg924His) rs564643512 0.00009
NM_022089.4(ATP13A2):c.880C>T (p.Arg294Trp) rs144898239 0.00009
NM_025137.4(SPG11):c.425T>C (p.Ile142Thr) rs1428358542 0.00009
NM_025137.4(SPG11):c.4274A>G (p.Asn1425Ser) rs142567993 0.00009
NM_025137.4(SPG11):c.4882G>C (p.Glu1628Gln) rs763204091 0.00009
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp) rs79186522 0.00009
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu) rs150571352 0.00009
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) rs1026408197 0.00008
NM_002361.4(MAG):c.1394G>A (p.Arg465His) rs147583558 0.00008
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00008
NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met) rs374100485 0.00008
NM_006612.6(KIF1C):c.3302del (p.Ala1101fs) rs375445356 0.00008
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) rs572671693 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022089.4(ATP13A2):c.2951C>T (p.Ala984Val) rs375552345 0.00008
NM_022089.4(ATP13A2):c.3320C>T (p.Ala1107Val) rs755307953 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_025137.4(SPG11):c.5966A>G (p.Asn1989Ser) rs375896392 0.00008
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) rs370640121 0.00007
NM_001166114.2(PNPLA6):c.1270C>T (p.Arg424Cys) rs763561590 0.00007
NM_001166114.2(PNPLA6):c.217A>G (p.Arg73Gly) rs781291417 0.00007
NM_002361.4(MAG):c.685G>C (p.Glu229Gln) rs202166521 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_006612.6(KIF1C):c.2366C>T (p.Pro789Leu) rs377528420 0.00007
NM_006612.6(KIF1C):c.363+5G>A rs371500484 0.00007
NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser) rs779431365 0.00007
NM_014844.5(TECPR2):c.3991G>A (p.Gly1331Arg) rs143705801 0.00007
NM_015214.3(DDHD2):c.566G>T (p.Gly189Val) rs776830636 0.00007
NM_015214.3(DDHD2):c.628C>A (p.Pro210Thr) rs376771682 0.00007
NM_022089.4(ATP13A2):c.1658G>A (p.Arg553Gln) rs376011760 0.00007
NM_022089.4(ATP13A2):c.2326G>C (p.Val776Leu) rs56170027 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.3409G>A (p.Val1137Met) rs528943677 0.00007
NM_022089.4(ATP13A2):c.3539G>A (p.Arg1180Lys) rs771312962 0.00007
NM_025137.4(SPG11):c.10G>A (p.Glu4Lys) rs765163502 0.00007
NM_025137.4(SPG11):c.1801C>A (p.Pro601Thr) rs775799559 0.00007
NM_025137.4(SPG11):c.2012A>G (p.His671Arg) rs189306815 0.00007
NM_025137.4(SPG11):c.5770A>G (p.Met1924Val) rs949342628 0.00007
NM_025137.4(SPG11):c.841G>T (p.Val281Phe) rs754144151 0.00007
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile) rs369465821 0.00006
NM_001166114.2(PNPLA6):c.1312G>A (p.Val438Met) rs752915572 0.00006
NM_001166114.2(PNPLA6):c.3634G>A (p.Glu1212Lys) rs138454923 0.00006
NM_001351169.2(NT5C2):c.390-3C>T rs754629068 0.00006
NM_001368809.2(AMPD2):c.1880C>T (p.Thr627Met) rs749833212 0.00006
NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser) rs764032802 0.00006
NM_001368809.2(AMPD2):c.818G>A (p.Arg273Gln) rs143736463 0.00006
NM_002361.4(MAG):c.1666G>A (p.Val556Ile) rs201689297 0.00006
NM_002361.4(MAG):c.1719C>T (p.Ser573=) rs201985838 0.00006
NM_002361.4(MAG):c.1782C>A (p.Asp594Glu) rs200067189 0.00006
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly) rs372744264 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_006070.6(TFG):c.1087T>G (p.Phe363Val) rs758939134 0.00006
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005 0.00006
NM_006070.6(TFG):c.1147C>T (p.Arg383Cys) rs146078119 0.00006
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547 0.00006
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115 0.00006
NM_006612.6(KIF1C):c.1387C>T (p.Arg463Cys) rs759516774 0.00006
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys) rs140095139 0.00006
NM_014844.5(TECPR2):c.1316C>T (p.Pro439Leu) rs754024398 0.00006
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys) rs751957510 0.00006
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) rs772792595 0.00006
NM_014844.5(TECPR2):c.2761G>A (p.Val921Met) rs760730551 0.00006
NM_015214.3(DDHD2):c.1090C>G (p.Gln364Glu) rs201156715 0.00006
NM_022089.4(ATP13A2):c.1064C>T (p.Thr355Met) rs555691965 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val) rs147260398 0.00006
NM_022089.4(ATP13A2):c.212G>T (p.Trp71Leu) rs373607247 0.00006
NM_022089.4(ATP13A2):c.2663C>T (p.Ala888Val) rs190323680 0.00006
NM_022089.4(ATP13A2):c.3257C>T (p.Ala1086Val) rs370677966 0.00006
NM_022089.4(ATP13A2):c.461C>T (p.Ala154Val) rs376169767 0.00006
NM_022089.4(ATP13A2):c.778G>A (p.Ala260Thr) rs761338717 0.00006
NM_025137.4(SPG11):c.2212A>G (p.Ile738Val) rs746226262 0.00006
NM_025137.4(SPG11):c.2669G>A (p.Arg890His) rs376143651 0.00006
NM_025137.4(SPG11):c.2948A>T (p.Lys983Ile) rs765222405 0.00006
NM_025137.4(SPG11):c.3362C>G (p.Thr1121Ser) rs552471760 0.00006
NM_025137.4(SPG11):c.3695A>G (p.Gln1232Arg) rs529595414 0.00006
NM_025137.4(SPG11):c.4129C>T (p.His1377Tyr) rs773499406 0.00006
NM_025137.4(SPG11):c.5753C>A (p.Ala1918Asp) rs368992436 0.00006
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705 0.00006
NM_025137.4(SPG11):c.6424G>A (p.Ala2142Thr) rs141035224 0.00006
NM_025137.4(SPG11):c.779C>T (p.Thr260Ile) rs750687972 0.00006
NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser) rs200401367 0.00006
NM_001166114.2(PNPLA6):c.1271G>A (p.Arg424His) rs369286019 0.00005
NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr) rs375397452 0.00005
NM_001166114.2(PNPLA6):c.3109C>G (p.Leu1037Val) rs765313440 0.00005
NM_001166114.2(PNPLA6):c.4018G>A (p.Glu1340Lys) rs376402887 0.00005
NM_001368809.2(AMPD2):c.1180G>A (p.Val394Met) rs374249741 0.00005
NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His) rs138073893 0.00005
NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys) rs147463318 0.00005
NM_001776.6(ENTPD1):c.454G>T (p.Val152Leu) rs760388886 0.00005
NM_006070.6(TFG):c.557G>A (p.Gly186Asp) rs369981362 0.00005
NM_006612.6(KIF1C):c.2675C>T (p.Pro892Leu) rs768593463 0.00005
NM_012073.5(CCT5):c.748A>G (p.Ile250Val) rs200819422 0.00005
NM_014844.5(TECPR2):c.2394+3A>G rs776681603 0.00005
NM_015214.3(DDHD2):c.1477C>T (p.Pro493Ser) rs547550120 0.00005
NM_022089.4(ATP13A2):c.157G>A (p.Val53Met) rs142699829 0.00005
NM_022089.4(ATP13A2):c.2260C>G (p.Leu754Val) rs139909551 0.00005
NM_022089.4(ATP13A2):c.601C>T (p.Arg201Cys) rs760715676 0.00005
NM_022089.4(ATP13A2):c.658G>A (p.Val220Met) rs367693423 0.00005
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg) rs150519745 0.00005
NM_022089.4(ATP13A2):c.994G>A (p.Ala332Thr) rs141816878 0.00005
NM_025137.4(SPG11):c.1933A>G (p.Ser645Gly) rs768519061 0.00005
NM_025137.4(SPG11):c.2087T>G (p.Ile696Ser) rs150746549 0.00005
NM_025137.4(SPG11):c.3453+4C>T rs750025536 0.00005
NM_025137.4(SPG11):c.3977G>A (p.Ser1326Asn) rs573591432 0.00005
NM_025137.4(SPG11):c.5650C>T (p.Arg1884Cys) rs752889027 0.00005
NM_025137.4(SPG11):c.5793C>G (p.Ile1931Met) rs781271890 0.00005
NM_025137.4(SPG11):c.935G>A (p.Gly312Asp) rs774273136 0.00005
NM_031448.6(C19orf12):c.68C>T (p.Ala23Val) rs544395324 0.00005
NM_001010867.4(IBA57):c.341+4A>G rs536036624 0.00004
NM_001166114.2(PNPLA6):c.1223G>T (p.Arg408Leu) rs150500586 0.00004
NM_001166114.2(PNPLA6):c.1379C>T (p.Pro460Leu) rs375366178 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001166114.2(PNPLA6):c.2634+4G>C rs751744206 0.00004
NM_001166114.2(PNPLA6):c.3122T>C (p.Leu1041Ser) rs1291359628 0.00004
NM_001166114.2(PNPLA6):c.3399G>A (p.Ala1133=) rs760279180 0.00004
NM_001166114.2(PNPLA6):c.358G>A (p.Ala120Thr) rs147490830 0.00004
NM_001166114.2(PNPLA6):c.3647C>T (p.Pro1216Leu) rs762047744 0.00004
NM_001166114.2(PNPLA6):c.3809G>A (p.Arg1270His) rs150754330 0.00004
NM_001166114.2(PNPLA6):c.3955G>A (p.Gly1319Arg) rs140568070 0.00004
NM_001166114.2(PNPLA6):c.617G>A (p.Arg206Gln) rs535890270 0.00004
NM_001351169.2(NT5C2):c.44T>C (p.Met15Thr) rs751896016 0.00004
NM_001368809.2(AMPD2):c.1750T>C (p.Phe584Leu) rs763257527 0.00004
NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val) rs1349754803 0.00004
NM_001368809.2(AMPD2):c.283G>A (p.Glu95Lys) rs776751502 0.00004
NM_001368809.2(AMPD2):c.740C>T (p.Ala247Val) rs145441666 0.00004
NM_001776.6(ENTPD1):c.1185G>C (p.Glu395Asp) rs374624208 0.00004
NM_001776.6(ENTPD1):c.144+10A>G rs1197123531 0.00004
NM_001776.6(ENTPD1):c.325A>C (p.Met109Leu) rs139597339 0.00004
NM_002361.4(MAG):c.319G>A (p.Val107Ile) rs186777043 0.00004
NM_002361.4(MAG):c.415+4A>C rs769703123 0.00004
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) rs745614904 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) rs141192935 0.00004
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln) rs774274057 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile) rs781126562 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe) rs747291828 0.00004
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr) rs113678237 0.00004
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090 0.00004
NM_006070.6(TFG):c.820+3G>A rs367852812 0.00004
NM_006612.6(KIF1C):c.2109G>A (p.Thr703=) rs372267137 0.00004
NM_006612.6(KIF1C):c.2293C>T (p.Arg765Cys) rs767797244 0.00004
NM_006612.6(KIF1C):c.2429A>C (p.Glu810Ala) rs182610831 0.00004
NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys) rs758990694 0.00004
NM_006612.6(KIF1C):c.2887C>T (p.Arg963Cys) rs768222656 0.00004
NM_012073.5(CCT5):c.122C>G (p.Ala41Gly) rs1337016126 0.00004
NM_012073.5(CCT5):c.1310C>T (p.Ala437Val) rs149067488 0.00004
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) rs148752621 0.00004
NM_014844.5(TECPR2):c.1261G>A (p.Gly421Arg) rs141146184 0.00004
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly) rs199977652 0.00004
NM_014844.5(TECPR2):c.3521A>G (p.Tyr1174Cys) rs767911807 0.00004
NM_014844.5(TECPR2):c.3580A>G (p.Thr1194Ala) rs746763770 0.00004
NM_014844.5(TECPR2):c.3979C>T (p.Arg1327Cys) rs763261549 0.00004
NM_014844.5(TECPR2):c.413A>G (p.Asn138Ser) rs750512288 0.00004
NM_014844.5(TECPR2):c.4189G>A (p.Ala1397Thr) rs376123886 0.00004
NM_014844.5(TECPR2):c.632G>A (p.Arg211Lys) rs201081739 0.00004
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) rs750922939 0.00004
NM_015214.3(DDHD2):c.1361C>A (p.Ala454Asp) rs1005295323 0.00004
NM_015214.3(DDHD2):c.139T>G (p.Cys47Gly) rs200883537 0.00004
NM_015214.3(DDHD2):c.1778C>T (p.Ser593Leu) rs371592123 0.00004
NM_015214.3(DDHD2):c.667A>G (p.Ile223Val) rs180936280 0.00004
NM_022089.4(ATP13A2):c.1542+3G>A rs747456787 0.00004
NM_022089.4(ATP13A2):c.1545G>A (p.Thr515=) rs373005131 0.00004
NM_022089.4(ATP13A2):c.1630C>T (p.Arg544Cys) rs893985839 0.00004
NM_022089.4(ATP13A2):c.1766C>T (p.Pro589Leu) rs758992649 0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile) rs747785443 0.00004
NM_022089.4(ATP13A2):c.2412G>A (p.Lys804=) rs978493820 0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His) rs745954026 0.00004
NM_022089.4(ATP13A2):c.25G>A (p.Val9Met) rs143579092 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.3112G>A (p.Ala1038Thr) rs757076945 0.00004
NM_022089.4(ATP13A2):c.3215G>A (p.Arg1072His) rs371220869 0.00004
NM_022089.4(ATP13A2):c.3442C>T (p.Arg1148Cys) rs759327218 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_022089.4(ATP13A2):c.374C>G (p.Ala125Gly) rs1050244144 0.00004
NM_022089.4(ATP13A2):c.394G>A (p.Ala132Thr) rs200934541 0.00004
NM_022089.4(ATP13A2):c.649G>A (p.Gly217Ser) rs199961048 0.00004
NM_022089.4(ATP13A2):c.722A>G (p.Tyr241Cys) rs1221004929 0.00004
NM_025137.4(SPG11):c.1001T>C (p.Ile334Thr) rs760573942 0.00004
NM_025137.4(SPG11):c.1248G>T (p.Met416Ile) rs371310453 0.00004
NM_025137.4(SPG11):c.1437G>T (p.Gln479His) rs377499551 0.00004
NM_025137.4(SPG11):c.2066A>G (p.Glu689Gly) rs748241805 0.00004
NM_025137.4(SPG11):c.2764G>A (p.Val922Ile) rs139399250 0.00004
NM_025137.4(SPG11):c.2875T>C (p.Cys959Arg) rs375859622 0.00004
NM_025137.4(SPG11):c.2903G>C (p.Gly968Ala) rs769129678 0.00004
NM_025137.4(SPG11):c.3189T>G (p.Ile1063Met) rs1196874771 0.00004
NM_025137.4(SPG11):c.3514A>G (p.Ile1172Val) rs151299495 0.00004
NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly) rs775875753 0.00004
NM_025137.4(SPG11):c.3848G>A (p.Cys1283Tyr) rs745718551 0.00004
NM_025137.4(SPG11):c.4261G>A (p.Asp1421Asn) rs191148548 0.00004
NM_025137.4(SPG11):c.445A>G (p.Ile149Val) rs1482526173 0.00004
NM_025137.4(SPG11):c.5645T>C (p.Ile1882Thr) rs760815236 0.00004
NM_025137.4(SPG11):c.5725G>A (p.Ala1909Thr) rs140710297 0.00004
NM_025137.4(SPG11):c.6006+3A>G rs201717063 0.00004
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219 0.00004
NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu) rs747133152 0.00004
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) rs377341108 0.00004
NM_025137.4(SPG11):c.6988C>T (p.Arg2330Trp) rs775295729 0.00004
NM_025137.4(SPG11):c.70C>T (p.Arg24Trp) rs745561381 0.00004
NM_025137.4(SPG11):c.7107G>T (p.Gln2369His) rs551095608 0.00004
NM_025137.4(SPG11):c.7189A>C (p.Asn2397His) rs779892720 0.00004
NM_025137.4(SPG11):c.7202T>C (p.Leu2401Ser) rs139812925 0.00004
NM_031448.6(C19orf12):c.376G>A (p.Val126Met) rs779790146 0.00004
NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln) rs199781923 0.00004
NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile) rs750264592 0.00004
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu) rs753218907 0.00003
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly) rs759005478 0.00003
NM_001166114.2(PNPLA6):c.1088G>A (p.Ser363Asn) rs756600765 0.00003
NM_001166114.2(PNPLA6):c.1529A>T (p.Glu510Val) rs1017141420 0.00003
NM_001166114.2(PNPLA6):c.1594C>T (p.Arg532Cys) rs745665473 0.00003
NM_001166114.2(PNPLA6):c.2256C>A (p.Phe752Leu) rs773741175 0.00003
NM_001166114.2(PNPLA6):c.2408C>T (p.Thr803Met) rs374789348 0.00003
NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr) rs377449787 0.00003
NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys) rs587777854 0.00003
NM_001166114.2(PNPLA6):c.3655G>A (p.Asp1219Asn) rs370060935 0.00003
NM_001166114.2(PNPLA6):c.3884C>T (p.Thr1295Met) rs758549829 0.00003
NM_001351169.2(NT5C2):c.1528A>C (p.Thr510Pro) rs766540908 0.00003
NM_001368809.2(AMPD2):c.-149G>A rs773946980 0.00003
NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr) rs149171366 0.00003
NM_001368809.2(AMPD2):c.1519C>T (p.His507Tyr) rs374652371 0.00003
NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys) rs146798795 0.00003
NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) rs754712604 0.00003
NM_001368809.2(AMPD2):c.1895C>T (p.Pro632Leu) rs746845817 0.00003
NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln) rs753757082 0.00003
NM_002361.4(MAG):c.1468G>A (p.Ala490Thr) rs202083530 0.00003
NM_002361.4(MAG):c.1688G>A (p.Arg563His) rs138056630 0.00003
NM_002361.4(MAG):c.646G>T (p.Gly216Cys) rs200984385 0.00003
NM_002361.4(MAG):c.688G>A (p.Gly230Ser) rs765954040 0.00003
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val) rs371294018 0.00003
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met) rs769823561 0.00003
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His) rs192921117 0.00003
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys) rs147348068 0.00003
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val) rs373239891 0.00003
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00003
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys) rs202169492 0.00003
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) rs201841420 0.00003
NM_006070.6(TFG):c.1154G>A (p.Arg385His) rs373719892 0.00003
NM_006070.6(TFG):c.882A>C (p.Gln294His) rs751393611 0.00003
NM_006612.6(KIF1C):c.1261G>C (p.Gly421Arg) rs1259655283 0.00003
NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg) rs1393424251 0.00003
NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met) rs780729030 0.00003
NM_006612.6(KIF1C):c.2567G>A (p.Arg856Gln) rs372705324 0.00003
NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu) rs267604960 0.00003
NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu) rs369620316 0.00003
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp) rs200388087 0.00003
NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu) rs757847238 0.00003
NM_012073.5(CCT5):c.1072C>T (p.Leu358Phe) rs777440322 0.00003
NM_012073.5(CCT5):c.1324A>G (p.Thr442Ala) rs759193876 0.00003
NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys) rs201352197 0.00003
NM_014844.5(TECPR2):c.95G>A (p.Arg32His) rs767622790 0.00003
NM_015214.3(DDHD2):c.1627G>A (p.Val543Met) rs746480457 0.00003
NM_015214.3(DDHD2):c.1752G>A (p.Met584Ile) rs765137700 0.00003
NM_022089.4(ATP13A2):c.1634G>A (p.Arg545His) rs200337290 0.00003
NM_022089.4(ATP13A2):c.1895C>T (p.Ser632Leu) rs376070950 0.00003
NM_022089.4(ATP13A2):c.265G>A (p.Val89Ile) rs534590083 0.00003
NM_022089.4(ATP13A2):c.2681C>T (p.Ser894Leu) rs376348581 0.00003
NM_022089.4(ATP13A2):c.2978C>T (p.Pro993Leu) rs146559160 0.00003
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys) rs372182128 0.00003
NM_022089.4(ATP13A2):c.431A>T (p.Asp144Val) rs145031260 0.00003
NM_022089.4(ATP13A2):c.574C>T (p.Arg192Cys) rs372857244 0.00003
NM_025137.4(SPG11):c.1030T>C (p.Ser344Pro) rs1235556400 0.00003
NM_025137.4(SPG11):c.1168G>A (p.Asp390Asn) rs747798305 0.00003
NM_025137.4(SPG11):c.1273A>G (p.Ile425Val) rs746799947 0.00003
NM_025137.4(SPG11):c.1286G>A (p.Cys429Tyr) rs374650170 0.00003
NM_025137.4(SPG11):c.1939A>G (p.Ile647Val) rs375256495 0.00003
NM_025137.4(SPG11):c.1952G>A (p.Arg651Gln) rs766733736 0.00003
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys) rs764762491 0.00003
NM_025137.4(SPG11):c.2146C>A (p.Gln716Lys) rs312262737 0.00003
NM_025137.4(SPG11):c.226G>C (p.Gly76Arg) rs944158756 0.00003
NM_025137.4(SPG11):c.2739G>C (p.Gln913His) rs1209247230 0.00003
NM_025137.4(SPG11):c.2917G>C (p.Asp973His) rs746774397 0.00003
NM_025137.4(SPG11):c.3176C>T (p.Ala1059Val) rs759301637 0.00003
NM_025137.4(SPG11):c.3178A>G (p.Asn1060Asp) rs1567161567 0.00003
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile) rs766403944 0.00003
NM_025137.4(SPG11):c.3611A>G (p.His1204Arg) rs769221549 0.00003
NM_025137.4(SPG11):c.361A>C (p.Lys121Gln) rs778960331 0.00003
NM_025137.4(SPG11):c.4070T>C (p.Leu1357Pro) rs367550468 0.00003
NM_025137.4(SPG11):c.4972C>T (p.His1658Tyr) rs775877332 0.00003
NM_025137.4(SPG11):c.4997T>C (p.Ile1666Thr) rs1008817337 0.00003
NM_025137.4(SPG11):c.5362G>A (p.Val1788Met) rs200918991 0.00003
NM_025137.4(SPG11):c.5414G>A (p.Arg1805His) rs775768037 0.00003
NM_025137.4(SPG11):c.5695C>T (p.Arg1899Trp) rs748177028 0.00003
NM_025137.4(SPG11):c.5863A>G (p.Ser1955Gly) rs1479657715 0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr) rs1060501171 0.00003
NM_025137.4(SPG11):c.6091C>G (p.Arg2031Gly) rs147713329 0.00003
NM_025137.4(SPG11):c.6176G>A (p.Arg2059Gln) rs757619567 0.00003
NM_025137.4(SPG11):c.634A>G (p.Ile212Val) rs758638438 0.00003
NM_025137.4(SPG11):c.6481C>T (p.Arg2161Trp) rs773954273 0.00003
NM_025137.4(SPG11):c.6621C>G (p.Ile2207Met) rs758008249 0.00003
NM_025137.4(SPG11):c.66G>A (p.Met22Ile) rs1168936368 0.00003
NM_025137.4(SPG11):c.6766A>C (p.Lys2256Gln) rs771589139 0.00003
NM_025137.4(SPG11):c.6851G>A (p.Cys2284Tyr) rs760841252 0.00003
NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln) rs370773328 0.00003
NM_025137.4(SPG11):c.6864_6866dup (p.Ala2288_Gln2289insHis) rs1331704584 0.00003
NM_025137.4(SPG11):c.89T>G (p.Leu30Trp) rs750684185 0.00003
NM_025137.4(SPG11):c.937G>A (p.Val313Ile) rs533492925 0.00003
NM_152415.3(VPS37A):c.969+6A>G rs757678084 0.00003
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser) rs539057206 0.00002
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu) rs770987687 0.00002
NM_001166114.2(PNPLA6):c.1005C>T (p.His335=) rs769241929 0.00002
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg) rs764509267 0.00002
NM_001166114.2(PNPLA6):c.2093C>G (p.Pro698Arg) rs2023619514 0.00002
NM_001166114.2(PNPLA6):c.2400C>T (p.Ile800=) rs558598120 0.00002
NM_001166114.2(PNPLA6):c.2405C>T (p.Pro802Leu) rs1009954378 0.00002
NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg) rs1244234383 0.00002
NM_001166114.2(PNPLA6):c.3094-9T>G rs769489792 0.00002
NM_001166114.2(PNPLA6):c.3344A>G (p.Asp1115Gly) rs762434726 0.00002
NM_001166114.2(PNPLA6):c.3439A>G (p.Ile1147Val) rs754198302 0.00002
NM_001166114.2(PNPLA6):c.3688G>A (p.Asp1230Asn) rs747752100 0.00002
NM_001166114.2(PNPLA6):c.3718G>A (p.Gly1240Arg) rs769927461 0.00002
NM_001166114.2(PNPLA6):c.3728T>C (p.Val1243Ala) rs760045636 0.00002
NM_001166114.2(PNPLA6):c.3739T>C (p.Trp1247Arg) rs768125081 0.00002
NM_001166114.2(PNPLA6):c.3744C>G (p.Ser1248Arg) rs1000008449 0.00002
NM_001166114.2(PNPLA6):c.3745C>T (p.Arg1249Cys) rs562876825 0.00002
NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His) rs760038069 0.00002
NM_001166114.2(PNPLA6):c.3779G>A (p.Arg1260Gln) rs758242525 0.00002
NM_001166114.2(PNPLA6):c.3816C>T (p.Asp1272=) rs531640488 0.00002
NM_001166114.2(PNPLA6):c.3868C>T (p.Arg1290Trp) rs369159451 0.00002
NM_001166114.2(PNPLA6):c.3901G>A (p.Gly1301Ser) rs1350448949 0.00002
NM_001166114.2(PNPLA6):c.4054C>T (p.Arg1352Cys) rs1204274988 0.00002
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser) rs150620708 0.00002
NM_001166114.2(PNPLA6):c.796-3C>T rs756266429 0.00002
NM_001166114.2(PNPLA6):c.881C>T (p.Ala294Val) rs756180538 0.00002
NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) rs770051774 0.00002
NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu) rs780742359 0.00002
NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe) rs766037337 0.00002
NM_001368809.2(AMPD2):c.841C>T (p.Arg281Cys) rs769550203 0.00002
NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) rs747438024 0.00002
NM_001776.6(ENTPD1):c.1339G>A (p.Asp447Asn) rs1312380068 0.00002
NM_001776.6(ENTPD1):c.1342G>A (p.Ala448Thr) rs768179232 0.00002
NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys) rs754284810 0.00002
NM_002361.4(MAG):c.1456G>A (p.Val486Ile) rs142036180 0.00002
NM_002361.4(MAG):c.1760G>A (p.Arg587Gln) rs201094395 0.00002
NM_002361.4(MAG):c.1777C>G (p.Leu593Val) rs752836680 0.00002
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) rs907590719 0.00002
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His) rs765122458 0.00002
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys) rs763868475 0.00002
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His) rs760865106 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=) rs779516879 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) rs369153920 0.00002
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His) rs746256246 0.00002
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe) rs1380580792 0.00002
NM_006070.6(TFG):c.1172G>T (p.Gly391Val) rs1214775332 0.00002
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266 0.00002
NM_006070.6(TFG):c.401A>G (p.Asn134Ser) rs768746409 0.00002
NM_006070.6(TFG):c.464A>G (p.Lys155Arg) rs966574827 0.00002
NM_006070.6(TFG):c.544A>C (p.Met182Leu) rs755242228 0.00002
NM_006070.6(TFG):c.738G>C (p.Gln246His) rs370273888 0.00002
NM_006612.6(KIF1C):c.1571+5C>T rs191292171 0.00002
NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys) rs1371284245 0.00002
NM_006612.6(KIF1C):c.2303G>A (p.Arg768Gln) rs552440254 0.00002
NM_006612.6(KIF1C):c.2368G>A (p.Asp790Asn) rs764241869 0.00002
NM_006612.6(KIF1C):c.2989G>A (p.Gly997Arg) rs774701979 0.00002
NM_006612.6(KIF1C):c.3277G>A (p.Ala1093Thr) rs1269241991 0.00002
NM_006702.5(PNPLA6):c.2T>C (p.Met1Thr) rs765249233 0.00002
NM_012073.5(CCT5):c.1199G>T (p.Arg400Leu) rs749310473 0.00002
NM_012073.5(CCT5):c.1316A>C (p.Lys439Thr) rs768671276 0.00002
NM_012073.5(CCT5):c.1378A>G (p.Met460Val) rs780975626 0.00002
NM_012073.5(CCT5):c.1379T>C (p.Met460Thr) rs376067681 0.00002
NM_012073.5(CCT5):c.1391A>G (p.Glu464Gly) rs770386557 0.00002
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys) rs552008894 0.00002
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) rs1355138785 0.00002
NM_014844.5(TECPR2):c.1270C>T (p.Pro424Ser) rs770753468 0.00002
NM_014844.5(TECPR2):c.1334A>G (p.Asn445Ser) rs758980397 0.00002
NM_014844.5(TECPR2):c.2518G>A (p.Ala840Thr) rs906936247 0.00002
NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp) rs762185786 0.00002
NM_014844.5(TECPR2):c.4060G>A (p.Gly1354Ser) rs755603975 0.00002
NM_015214.3(DDHD2):c.1547G>A (p.Arg516Gln) rs1475417610 0.00002
NM_015214.3(DDHD2):c.2080G>A (p.Val694Ile) rs370808506 0.00002
NM_015214.3(DDHD2):c.370A>G (p.Lys124Glu) rs191787470 0.00002
NM_015214.3(DDHD2):c.608T>C (p.Val203Ala) rs755852058 0.00002
NM_015214.3(DDHD2):c.688C>T (p.Arg230Cys) rs764149817 0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_015214.3(DDHD2):c.725G>A (p.Arg242His) rs767497993 0.00002
NM_015214.3(DDHD2):c.902A>G (p.Asn301Ser) rs749254491 0.00002
NM_022089.4(ATP13A2):c.1099G>A (p.Glu367Lys) rs770576740 0.00002
NM_022089.4(ATP13A2):c.1189C>T (p.Arg397Cys) rs748309608 0.00002
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.1399G>A (p.Val467Met) rs760443267 0.00002
NM_022089.4(ATP13A2):c.1442C>T (p.Thr481Met) rs752000462 0.00002
NM_022089.4(ATP13A2):c.1633C>T (p.Arg545Cys) rs750152147 0.00002
NM_022089.4(ATP13A2):c.1667C>T (p.Ala556Val) rs760021599 0.00002
NM_022089.4(ATP13A2):c.1831C>A (p.Gln611Lys) rs770682887 0.00002
NM_022089.4(ATP13A2):c.1847A>C (p.Glu616Ala) rs558165485 0.00002
NM_022089.4(ATP13A2):c.1880G>A (p.Arg627His) rs756516383 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.196C>T (p.Arg66Cys) rs768327980 0.00002
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp) rs753087058 0.00002
NM_022089.4(ATP13A2):c.221G>A (p.Arg74Gln) rs767725094 0.00002
NM_022089.4(ATP13A2):c.2251+6A>C rs773458244 0.00002
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys) rs754208001 0.00002
NM_022089.4(ATP13A2):c.2797G>A (p.Val933Ile) rs370356637 0.00002
NM_022089.4(ATP13A2):c.3001G>A (p.Val1001Met) rs749677780 0.00002
NM_022089.4(ATP13A2):c.3218G>A (p.Arg1073Gln) rs747907490 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_022089.4(ATP13A2):c.395C>T (p.Ala132Val) rs764125787 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_022089.4(ATP13A2):c.518A>G (p.Tyr173Cys) rs376963085 0.00002
NM_022089.4(ATP13A2):c.595C>T (p.Arg199Cys) rs754074592 0.00002
NM_022089.4(ATP13A2):c.656A>G (p.Asn219Ser) rs776406555 0.00002
NM_022089.4(ATP13A2):c.878T>C (p.Met293Thr) rs772414750 0.00002
NM_022089.4(ATP13A2):c.889G>A (p.Val297Met) rs771174890 0.00002
NM_025137.4(SPG11):c.1178A>G (p.His393Arg) rs144038708 0.00002
NM_025137.4(SPG11):c.1214A>C (p.Lys405Thr) rs756326438 0.00002
NM_025137.4(SPG11):c.1619G>A (p.Arg540His) rs750200448 0.00002
NM_025137.4(SPG11):c.2008G>A (p.Val670Ile) rs761249365 0.00002
NM_025137.4(SPG11):c.2039G>T (p.Ser680Ile) rs745860301 0.00002
NM_025137.4(SPG11):c.206C>T (p.Thr69Met) rs764422997 0.00002
NM_025137.4(SPG11):c.2228A>G (p.Glu743Gly) rs199617257 0.00002
NM_025137.4(SPG11):c.2285A>G (p.Tyr762Cys) rs747681565 0.00002
NM_025137.4(SPG11):c.2299A>G (p.Asn767Asp) rs370774571 0.00002
NM_025137.4(SPG11):c.2306G>A (p.Arg769His) rs368151745 0.00002
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val) rs758923470 0.00002
NM_025137.4(SPG11):c.2767G>C (p.Asp923His) rs910680613 0.00002
NM_025137.4(SPG11):c.2768A>G (p.Asp923Gly) rs772514266 0.00002
NM_025137.4(SPG11):c.2834+6A>G rs766369623 0.00002
NM_025137.4(SPG11):c.3095C>T (p.Pro1032Leu) rs141106870 0.00002
NM_025137.4(SPG11):c.3394C>T (p.Pro1132Ser) rs891639488 0.00002
NM_025137.4(SPG11):c.443G>A (p.Ser148Asn) rs141990871 0.00002
NM_025137.4(SPG11):c.4643C>T (p.Pro1548Leu) rs368706788 0.00002
NM_025137.4(SPG11):c.4798G>A (p.Asp1600Asn) rs770380861 0.00002
NM_025137.4(SPG11):c.4940A>G (p.Gln1647Arg) rs1326184542 0.00002
NM_025137.4(SPG11):c.5074G>A (p.Val1692Ile) rs764497276 0.00002
NM_025137.4(SPG11):c.5120A>G (p.Glu1707Gly) rs747956329 0.00002
NM_025137.4(SPG11):c.5201G>T (p.Cys1734Phe) rs780601824 0.00002
NM_025137.4(SPG11):c.5635A>C (p.Asn1879His) rs759595222 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_025137.4(SPG11):c.5790G>T (p.Glu1930Asp) rs972738967 0.00002
NM_025137.4(SPG11):c.5839G>A (p.Asp1947Asn) rs751801619 0.00002
NM_025137.4(SPG11):c.6013G>A (p.Gly2005Ser) rs776764189 0.00002
NM_025137.4(SPG11):c.617C>T (p.Thr206Met) rs763340583 0.00002
NM_025137.4(SPG11):c.6250C>T (p.Leu2084Phe) rs754874642 0.00002
NM_025137.4(SPG11):c.6277C>T (p.Arg2093Cys) rs772336846 0.00002
NM_025137.4(SPG11):c.6497T>C (p.Ile2166Thr) rs199873327 0.00002
NM_025137.4(SPG11):c.6502A>G (p.Arg2168Gly) rs371301157 0.00002
NM_025137.4(SPG11):c.6539A>T (p.His2180Leu) rs1470051584 0.00002
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His) rs766384717 0.00002
NM_025137.4(SPG11):c.6736A>G (p.Ile2246Val) rs770110397 0.00002
NM_025137.4(SPG11):c.6737T>C (p.Ile2246Thr) rs762209905 0.00002
NM_025137.4(SPG11):c.6738T>G (p.Ile2246Met) rs776998679 0.00002
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His) rs768408465 0.00002
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val) rs368902742 0.00002
NM_025137.4(SPG11):c.7034C>T (p.Pro2345Leu) rs748206574 0.00002
NM_025137.4(SPG11):c.7177A>T (p.Met2393Leu) rs888840813 0.00002
NM_025137.4(SPG11):c.737G>A (p.Cys246Tyr) rs376828731 0.00002
NM_025137.4(SPG11):c.820G>A (p.Val274Ile) rs543316224 0.00002
NM_025137.4(SPG11):c.968A>G (p.Tyr323Cys) rs190718076 0.00002
NM_031448.6(C19orf12):c.124G>A (p.Gly42Arg) rs200133991 0.00002
NM_031448.6(C19orf12):c.400C>T (p.Arg134Trp) rs1176245027 0.00002
NM_152415.3(VPS37A):c.421T>C (p.Tyr141His) rs753491148 0.00002
NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn) rs574438273 0.00002
NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly) rs768941323 0.00002
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) rs755628436 0.00001
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) rs778284446 0.00001
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser) rs1168294957 0.00001
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) rs1186238890 0.00001
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) rs1191467500 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) rs775646159 0.00001
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu) rs1403342810 0.00001
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys) rs1324456932 0.00001
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp) rs368114681 0.00001
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) rs769063859 0.00001
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) rs143575106 0.00001
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) rs1245306816 0.00001
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) rs951070079 0.00001
NM_001166114.2(PNPLA6):c.1060C>G (p.Pro354Ala) rs1309856946 0.00001
NM_001166114.2(PNPLA6):c.1069G>A (p.Gly357Ser) rs753225629 0.00001
NM_001166114.2(PNPLA6):c.1079G>A (p.Arg360Lys) rs948393107 0.00001
NM_001166114.2(PNPLA6):c.1124G>A (p.Gly375Glu) rs1163920380 0.00001
NM_001166114.2(PNPLA6):c.1135G>A (p.Asp379Asn) rs1372004040 0.00001
NM_001166114.2(PNPLA6):c.1147G>A (p.Ala383Thr) rs774683671 0.00001
NM_001166114.2(PNPLA6):c.1304G>A (p.Arg435Gln) rs376174058 0.00001
NM_001166114.2(PNPLA6):c.1336G>C (p.Gly446Arg) rs573529919 0.00001
NM_001166114.2(PNPLA6):c.1361G>A (p.Arg454Gln) rs370626406 0.00001
NM_001166114.2(PNPLA6):c.1378C>T (p.Pro460Ser) rs757610420 0.00001
NM_001166114.2(PNPLA6):c.148C>T (p.Leu50Phe) rs770929257 0.00001
NM_001166114.2(PNPLA6):c.1523G>A (p.Arg508Gln) rs370094298 0.00001
NM_001166114.2(PNPLA6):c.1537T>G (p.Ser513Ala) rs1306308836 0.00001
NM_001166114.2(PNPLA6):c.1538C>T (p.Ser513Phe) rs1351660925 0.00001
NM_001166114.2(PNPLA6):c.1570G>A (p.Ala524Thr) rs763642095 0.00001
NM_001166114.2(PNPLA6):c.1595G>A (p.Arg532His) rs374297942 0.00001
NM_001166114.2(PNPLA6):c.1621C>T (p.His541Tyr) rs1050752297 0.00001
NM_001166114.2(PNPLA6):c.1696G>A (p.Ala566Thr) rs200855333 0.00001
NM_001166114.2(PNPLA6):c.1740C>T (p.Gly580=) rs752720134 0.00001
NM_001166114.2(PNPLA6):c.1759C>G (p.Leu587Val) rs757260835 0.00001
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836 0.00001
NM_001166114.2(PNPLA6):c.1876T>G (p.Ser626Ala) rs1484050135 0.00001
NM_001166114.2(PNPLA6):c.2107G>T (p.Val703Leu) rs979155811 0.00001
NM_001166114.2(PNPLA6):c.2148G>T (p.Glu716Asp) rs1425497937 0.00001
NM_001166114.2(PNPLA6):c.2184+4C>T rs569845262 0.00001
NM_001166114.2(PNPLA6):c.226G>A (p.Val76Met) rs749575421 0.00001
NM_001166114.2(PNPLA6):c.2329A>G (p.Ile777Val) rs752227045 0.00001
NM_001166114.2(PNPLA6):c.2344G>A (p.Ala782Thr) rs1354212753 0.00001
NM_001166114.2(PNPLA6):c.2369C>T (p.Thr790Met) rs753592836 0.00001
NM_001166114.2(PNPLA6):c.238C>T (p.Pro80Ser) rs772575811 0.00001
NM_001166114.2(PNPLA6):c.2401+6T>C rs368277076 0.00001
NM_001166114.2(PNPLA6):c.2440C>T (p.Arg814Cys) rs531445564 0.00001
NM_001166114.2(PNPLA6):c.2465+4T>C rs758703848 0.00001
NM_001166114.2(PNPLA6):c.2466C>T (p.Ser822=) rs780346245 0.00001
NM_001166114.2(PNPLA6):c.2503C>G (p.Gln835Glu) rs1001173506 0.00001
NM_001166114.2(PNPLA6):c.2543C>T (p.Ala848Val) rs760534400 0.00001
NM_001166114.2(PNPLA6):c.2632C>G (p.Gln878Glu) rs369420098 0.00001
NM_001166114.2(PNPLA6):c.2815C>T (p.Leu939=) rs201897212 0.00001
NM_001166114.2(PNPLA6):c.2818-9C>G rs759090007 0.00001
NM_001166114.2(PNPLA6):c.2956G>A (p.Val986Ile) rs1400699469 0.00001
NM_001166114.2(PNPLA6):c.3019T>G (p.Ser1007Ala) rs775899903 0.00001
NM_001166114.2(PNPLA6):c.3028G>C (p.Gly1010Arg) rs768107851 0.00001
NM_001166114.2(PNPLA6):c.3032C>T (p.Ala1011Val) rs776289656 0.00001
NM_001166114.2(PNPLA6):c.3146C>T (p.Ser1049Phe) rs2023885542 0.00001
NM_001166114.2(PNPLA6):c.3184C>T (p.Arg1062Trp) rs375118832 0.00001
NM_001166114.2(PNPLA6):c.3185G>A (p.Arg1062Gln) rs368449963 0.00001
NM_001166114.2(PNPLA6):c.3210+3A>G rs1167974266 0.00001
NM_001166114.2(PNPLA6):c.3293G>A (p.Arg1098Gln) rs756056332 0.00001
NM_001166114.2(PNPLA6):c.3314C>T (p.Thr1105Met) rs1202026658 0.00001
NM_001166114.2(PNPLA6):c.3376G>A (p.Gly1126Ser) rs1204028385 0.00001
NM_001166114.2(PNPLA6):c.3481G>A (p.Gly1161Arg) rs776490050 0.00001
NM_001166114.2(PNPLA6):c.3590C>A (p.Ser1197Tyr) rs746492824 0.00001
NM_001166114.2(PNPLA6):c.3633C>T (p.Cys1211=) rs200413993 0.00001
NM_001166114.2(PNPLA6):c.3680G>T (p.Gly1227Val) rs780878126 0.00001
NM_001166114.2(PNPLA6):c.3698A>G (p.Tyr1233Cys) rs777550870 0.00001
NM_001166114.2(PNPLA6):c.3703G>A (p.Val1235Met) rs745714280 0.00001
NM_001166114.2(PNPLA6):c.3754G>A (p.Val1252Ile) rs753386551 0.00001
NM_001166114.2(PNPLA6):c.3768G>T (p.Met1256Ile) rs878854905 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001166114.2(PNPLA6):c.3856G>A (p.Glu1286Lys) rs1318719241 0.00001
NM_001166114.2(PNPLA6):c.3869G>A (p.Arg1290Gln) rs764729340 0.00001
NM_001166114.2(PNPLA6):c.3961G>A (p.Asp1321Asn) rs144558473 0.00001
NM_001166114.2(PNPLA6):c.3968C>T (p.Ser1323Leu) rs147822708 0.00001
NM_001166114.2(PNPLA6):c.3991G>A (p.Glu1331Lys) rs371906206 0.00001
NM_001166114.2(PNPLA6):c.3992A>T (p.Glu1331Val) rs771807857 0.00001
NM_001166114.2(PNPLA6):c.4064C>T (p.Pro1355Leu) rs2024101144 0.00001
NM_001166114.2(PNPLA6):c.414-3C>G rs1312058418 0.00001
NM_001166114.2(PNPLA6):c.599G>A (p.Arg200His) rs749879325 0.00001
NM_001166114.2(PNPLA6):c.647C>T (p.Pro216Leu) rs777837588 0.00001
NM_001166114.2(PNPLA6):c.713C>T (p.Pro238Leu) rs763499274 0.00001
NM_001166114.2(PNPLA6):c.808C>T (p.Pro270Ser) rs1382702507 0.00001
NM_001166114.2(PNPLA6):c.838C>T (p.Arg280Trp) rs779386400 0.00001
NM_001166114.2(PNPLA6):c.842A>G (p.Asp281Gly) rs746313026 0.00001
NM_001166114.2(PNPLA6):c.989A>G (p.Asn330Ser) rs1183371584 0.00001
NM_001351169.2(NT5C2):c.57G>C (p.Met19Ile) rs762854961 0.00001
NM_001368809.2(AMPD2):c.-161T>G rs769851350 0.00001
NM_001368809.2(AMPD2):c.-18G>T rs772899120 0.00001
NM_001368809.2(AMPD2):c.-38G>A rs1650212785 0.00001
NM_001368809.2(AMPD2):c.-75G>T rs1025210705 0.00001
NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val) rs749918422 0.00001
NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met) rs751131036 0.00001
NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln) rs771577116 0.00001
NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His) rs772541636 0.00001
NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser) rs370528133 0.00001
NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg) rs539379857 0.00001
NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) rs761542502 0.00001
NM_001368809.2(AMPD2):c.2365C>T (p.Arg789Cys) rs1253216358 0.00001
NM_001368809.2(AMPD2):c.236G>A (p.Arg79His) rs1308492888 0.00001
NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp) rs745350160 0.00001
NM_001368809.2(AMPD2):c.387A>G (p.Gln129=) rs1399925815 0.00001
NM_001368809.2(AMPD2):c.415G>C (p.Asp139His) rs200750655 0.00001
NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys) rs575582124 0.00001
NM_001368809.2(AMPD2):c.536C>T (p.Pro179Leu) rs567095077 0.00001
NM_001368809.2(AMPD2):c.602T>C (p.Met201Thr) rs748621330 0.00001
NM_001368809.2(AMPD2):c.725C>T (p.Pro242Leu) rs768283469 0.00001
NM_001368809.2(AMPD2):c.856G>A (p.Glu286Lys) rs1255257133 0.00001
NM_001368809.2(AMPD2):c.929C>T (p.Ala310Val) rs771408289 0.00001
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_001776.6(ENTPD1):c.1137G>C (p.Gln379His) rs994434491 0.00001
NM_001776.6(ENTPD1):c.1188+4A>G rs780832950 0.00001
NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile) rs758827298 0.00001
NM_001776.6(ENTPD1):c.1411C>G (p.Pro471Ala) rs1173015974 0.00001
NM_001776.6(ENTPD1):c.1462C>G (p.Leu488Val) rs1434376009 0.00001
NM_001776.6(ENTPD1):c.329A>T (p.Glu110Val) rs751335015 0.00001
NM_001776.6(ENTPD1):c.491A>G (p.Gln164Arg) rs748573011 0.00001
NM_001776.6(ENTPD1):c.595G>A (p.Val199Ile) rs911744459 0.00001
NM_001776.6(ENTPD1):c.599C>T (p.Pro200Leu) rs147932314 0.00001
NM_001776.6(ENTPD1):c.941T>C (p.Phe314Ser) rs774867224 0.00001
NM_002361.4(MAG):c.1000A>T (p.Thr334Ser) rs763171002 0.00001
NM_002361.4(MAG):c.1017G>T (p.Glu339Asp) rs750691038 0.00001
NM_002361.4(MAG):c.1138C>T (p.Pro380Ser) rs201899456 0.00001
NM_002361.4(MAG):c.1265C>T (p.Ala422Val) rs1456256662 0.00001
NM_002361.4(MAG):c.1270G>A (p.Ala424Thr) rs1434326122 0.00001
NM_002361.4(MAG):c.127C>T (p.Arg43Cys) rs745533880 0.00001
NM_002361.4(MAG):c.1393C>T (p.Arg465Cys) rs2066514711 0.00001
NM_002361.4(MAG):c.157G>A (p.Ala53Thr) rs759758253 0.00001
NM_002361.4(MAG):c.1646C>T (p.Ser549Leu) rs767886169 0.00001
NM_002361.4(MAG):c.1681G>A (p.Asp561Asn) rs201165241 0.00001
NM_002361.4(MAG):c.252C>A (p.Ser84Arg) rs763042714 0.00001
NM_002361.4(MAG):c.569G>A (p.Arg190Gln) rs760694257 0.00001
NM_002361.4(MAG):c.61C>T (p.His21Tyr) rs370825816 0.00001
NM_002361.4(MAG):c.668A>G (p.Asn223Ser) rs1471804208 0.00001
NM_002361.4(MAG):c.699C>G (p.Ser233Arg) rs1348797051 0.00001
NM_002361.4(MAG):c.899A>G (p.Asp300Gly) rs1216189764 0.00001
NM_002361.4(MAG):c.997G>A (p.Gly333Arg) rs199764089 0.00001
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe) rs758828421 0.00001
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro) rs1413173287 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr) rs560598479 0.00001
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly) rs796197665 0.00001
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg) rs753157831 0.00001
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His) rs754880517 0.00001
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg) rs1085307606 0.00001
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys) rs777991529 0.00001
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser) rs752764884 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly) rs1363547996 0.00001
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys) rs758219423 0.00001
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) rs756291410 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val) rs1268586078 0.00001
NM_002860.4(ALDH18A1):c.558+6A>G rs751771445 0.00001
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys) rs201801058 0.00001
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) rs757660360 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149 0.00001
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436 0.00001
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441 0.00001
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129 0.00001
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys) rs548772203 0.00001
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg) rs1576390105 0.00001
NM_006070.6(TFG):c.25G>A (p.Gly9Arg) rs200716443 0.00001
NM_006070.6(TFG):c.268G>A (p.Val90Ile) rs1468380372 0.00001
NM_006070.6(TFG):c.286C>T (p.Pro96Ser) rs1435777080 0.00001
NM_006070.6(TFG):c.293A>C (p.Glu98Ala) rs2095082870 0.00001
NM_006070.6(TFG):c.409G>C (p.Glu137Gln) rs760595911 0.00001
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552 0.00001
NM_006070.6(TFG):c.482T>C (p.Met161Thr) rs766899074 0.00001
NM_006070.6(TFG):c.484G>A (p.Ala162Thr) rs1346466403 0.00001
NM_006070.6(TFG):c.499G>A (p.Ala167Thr) rs1428468084 0.00001
NM_006070.6(TFG):c.550G>A (p.Ala184Thr) rs777654574 0.00001
NM_006070.6(TFG):c.580+6T>C rs372196251 0.00001
NM_006070.6(TFG):c.608G>A (p.Arg203His) rs879472420 0.00001
NM_006070.6(TFG):c.664G>A (p.Val222Ile) rs144368144 0.00001
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697 0.00001
NM_006070.6(TFG):c.773C>T (p.Pro258Leu) rs752762145 0.00001
NM_006070.6(TFG):c.821C>T (p.Ala274Val) rs368994316 0.00001
NM_006070.6(TFG):c.850C>G (p.Gln284Glu) rs760894126 0.00001
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965 0.00001
NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln) rs367997542 0.00001
NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser) rs1368090910 0.00001
NM_006612.6(KIF1C):c.126G>C (p.Gln42His) rs202033753 0.00001
NM_006612.6(KIF1C):c.1666+5T>C rs1057523116 0.00001
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu) rs760659714 0.00001
NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu) rs1283601775 0.00001
NM_006612.6(KIF1C):c.1938G>A (p.Arg646=) rs762688207 0.00001
NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys) rs147429300 0.00001
NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu) rs376385209 0.00001
NM_006612.6(KIF1C):c.2231T>C (p.Met744Thr) rs1453593139 0.00001
NM_006612.6(KIF1C):c.2443G>A (p.Ala815Thr) rs776041349 0.00001
NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys) rs539082919 0.00001
NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys) rs751072487 0.00001
NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg) rs1395728872 0.00001
NM_006612.6(KIF1C):c.2777G>A (p.Arg926Gln) rs200925951 0.00001
NM_006612.6(KIF1C):c.2819G>A (p.Arg940His) rs774901685 0.00001
NM_006612.6(KIF1C):c.3070C>T (p.Arg1024Ter) rs372792586 0.00001
NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe) rs779584975 0.00001
NM_006612.6(KIF1C):c.363+4C>T rs368371260 0.00001
NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp) rs756071061 0.00001
NM_006612.6(KIF1C):c.412C>G (p.Leu138Val) rs773746672 0.00001
NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr) rs754938138 0.00001
NM_006612.6(KIF1C):c.798+3G>T rs777181739 0.00001
NM_012073.5(CCT5):c.10A>G (p.Met4Val) rs1281493996 0.00001
NM_012073.5(CCT5):c.1123G>A (p.Glu375Lys) rs139449863 0.00001
NM_012073.5(CCT5):c.1229G>A (p.Arg410Gln) rs771944850 0.00001
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) rs762423535 0.00001
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn) rs766463234 0.00001
NM_012073.5(CCT5):c.1443G>C (p.Gln481His) rs766425367 0.00001
NM_012073.5(CCT5):c.1549A>G (p.Ile517Val) rs752461300 0.00001
NM_012073.5(CCT5):c.377G>A (p.Arg126Gln) rs369788570 0.00001
NM_012073.5(CCT5):c.548G>A (p.Arg183Gln) rs772711272 0.00001
NM_012073.5(CCT5):c.577G>A (p.Val193Ile) rs978444316 0.00001
NM_012073.5(CCT5):c.610G>A (p.Val204Ile) rs1266138297 0.00001
NM_012073.5(CCT5):c.649G>A (p.Gly217Ser) rs201804455 0.00001
NM_014844.5(TECPR2):c.1129G>A (p.Val377Met) rs527904656 0.00001
NM_014844.5(TECPR2):c.1204G>A (p.Val402Met) rs201302142 0.00001
NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys) rs148556964 0.00001
NM_014844.5(TECPR2):c.1235C>T (p.Ser412Leu) rs367895391 0.00001
NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr) rs1239046327 0.00001
NM_014844.5(TECPR2):c.142A>G (p.Ile48Val) rs774552033 0.00001
NM_014844.5(TECPR2):c.150G>A (p.Val50=) rs372796531 0.00001
NM_014844.5(TECPR2):c.167T>C (p.Met56Thr) rs755600315 0.00001
NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe) rs752289754 0.00001
NM_014844.5(TECPR2):c.1811C>T (p.Ala604Val) rs1060502180 0.00001
NM_014844.5(TECPR2):c.2281G>A (p.Gly761Arg) rs985650252 0.00001
NM_014844.5(TECPR2):c.2414G>A (p.Gly805Asp) rs201418942 0.00001
NM_014844.5(TECPR2):c.2453T>C (p.Val818Ala) rs766994977 0.00001
NM_014844.5(TECPR2):c.2527C>T (p.Arg843Cys) rs1337707151 0.00001
NM_014844.5(TECPR2):c.2675C>T (p.Pro892Leu) rs762680033 0.00001
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met) rs752912949 0.00001
NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln) rs763118922 0.00001
NM_014844.5(TECPR2):c.2971G>A (p.Gly991Arg) rs769632840 0.00001
NM_014844.5(TECPR2):c.3104A>G (p.Asp1035Gly) rs1060502181 0.00001
NM_014844.5(TECPR2):c.3172G>A (p.Val1058Ile) rs149704865 0.00001
NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala) rs1567347217 0.00001
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys) rs776056002 0.00001
NM_014844.5(TECPR2):c.3197G>A (p.Arg1066His) rs868392319 0.00001
NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp) rs202087410 0.00001
NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly) rs762957508 0.00001
NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg) rs1230456153 0.00001
NM_014844.5(TECPR2):c.3803G>A (p.Ser1268Asn) rs1891298626 0.00001
NM_014844.5(TECPR2):c.3806T>C (p.Leu1269Ser) rs750718382 0.00001
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile) rs766050891 0.00001
NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly) rs200469835 0.00001
NM_015161.3(ARL6IP1):c.171G>A (p.Leu57=) rs767572069 0.00001
NM_015161.3(ARL6IP1):c.205G>A (p.Gly69Ser) rs770346896 0.00001
NM_015161.3(ARL6IP1):c.566G>A (p.Arg189Lys) rs148872516 0.00001
NM_015214.3(DDHD2):c.1250C>A (p.Ala417Asp) rs376393703 0.00001
NM_015214.3(DDHD2):c.1448T>C (p.Val483Ala) rs1258523026 0.00001
NM_015214.3(DDHD2):c.1461+5C>G rs375678849 0.00001
NM_015214.3(DDHD2):c.1526T>C (p.Ile509Thr) rs748099521 0.00001
NM_015214.3(DDHD2):c.1648A>G (p.Met550Val) rs187350175 0.00001
NM_015214.3(DDHD2):c.1771C>A (p.Leu591Ile) rs758122725 0.00001
NM_015214.3(DDHD2):c.1783C>T (p.Arg595Trp) rs1215601645 0.00001
NM_015214.3(DDHD2):c.1796A>G (p.Lys599Arg) rs1487744193 0.00001
NM_015214.3(DDHD2):c.2019G>C (p.Glu673Asp) rs997716780 0.00001
NM_015214.3(DDHD2):c.292C>T (p.Arg98Trp) rs372220151 0.00001
NM_015214.3(DDHD2):c.312T>G (p.Asp104Glu) rs765795609 0.00001
NM_015214.3(DDHD2):c.379C>G (p.Pro127Ala) rs750939885 0.00001
NM_015214.3(DDHD2):c.471C>A (p.Asn157Lys) rs777858708 0.00001
NM_015214.3(DDHD2):c.995C>T (p.Thr332Ile) rs749180013 0.00001
NM_022089.4(ATP13A2):c.1004C>T (p.Ala335Val) rs756767909 0.00001
NM_022089.4(ATP13A2):c.1017G>C (p.Met339Ile) rs1345269003 0.00001
NM_022089.4(ATP13A2):c.1102A>G (p.Thr368Ala) rs1236275703 0.00001
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00001
NM_022089.4(ATP13A2):c.1109G>A (p.Arg370Gln) rs369738172 0.00001
NM_022089.4(ATP13A2):c.1295T>C (p.Leu432Pro) rs778964823 0.00001
NM_022089.4(ATP13A2):c.1384C>G (p.Leu462Val) rs773341880 0.00001
NM_022089.4(ATP13A2):c.1405G>A (p.Val469Met) rs1326057817 0.00001
NM_022089.4(ATP13A2):c.1460G>A (p.Arg487Gln) rs560095049 0.00001
NM_022089.4(ATP13A2):c.1465C>T (p.Arg489Trp) rs753825215 0.00001
NM_022089.4(ATP13A2):c.146G>T (p.Gly49Val) rs372254666 0.00001
NM_022089.4(ATP13A2):c.1544C>T (p.Thr515Met) rs984178348 0.00001
NM_022089.4(ATP13A2):c.1631G>A (p.Arg544His) rs1050384310 0.00001
NM_022089.4(ATP13A2):c.1744G>A (p.Gly582Ser) rs886045581 0.00001
NM_022089.4(ATP13A2):c.1750-3C>T rs780246274 0.00001
NM_022089.4(ATP13A2):c.1787G>C (p.Gly596Ala) rs975811918 0.00001
NM_022089.4(ATP13A2):c.1856C>T (p.Pro619Leu) rs746563424 0.00001
NM_022089.4(ATP13A2):c.1864G>T (p.Val622Phe) rs779367060 0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile) rs368423685 0.00001
NM_022089.4(ATP13A2):c.1876C>T (p.His626Tyr) rs778267471 0.00001
NM_022089.4(ATP13A2):c.1897G>T (p.Ala633Ser) rs766354139 0.00001
NM_022089.4(ATP13A2):c.1907G>A (p.Arg636His) rs769622260 0.00001
NM_022089.4(ATP13A2):c.1951G>A (p.Ala651Thr) rs778404620 0.00001
NM_022089.4(ATP13A2):c.1957G>A (p.Val653Ile) rs761490954 0.00001
NM_022089.4(ATP13A2):c.2015A>G (p.Asp672Gly) rs981910553 0.00001
NM_022089.4(ATP13A2):c.2158G>T (p.Gly720Trp) rs865939676 0.00001
NM_022089.4(ATP13A2):c.226C>T (p.Arg76Trp) rs751715295 0.00001
NM_022089.4(ATP13A2):c.2270C>T (p.Ala757Val) rs1208175914 0.00001
NM_022089.4(ATP13A2):c.229C>T (p.Leu77Phe) rs763004392 0.00001
NM_022089.4(ATP13A2):c.2332G>A (p.Ala778Thr) rs748986186 0.00001
NM_022089.4(ATP13A2):c.2381T>C (p.Met794Thr) rs151222153 0.00001
NM_022089.4(ATP13A2):c.2422C>G (p.Gln808Glu) rs774997717 0.00001
NM_022089.4(ATP13A2):c.2456G>A (p.Arg819Gln) rs781298587 0.00001
NM_022089.4(ATP13A2):c.2479G>A (p.Gly827Arg) rs765064192 0.00001
NM_022089.4(ATP13A2):c.2525C>G (p.Pro842Arg) rs917176878 0.00001
NM_022089.4(ATP13A2):c.2591G>T (p.Cys864Phe) rs1281682323 0.00001
NM_022089.4(ATP13A2):c.2635G>A (p.Gly879Ser) rs771014262 0.00001
NM_022089.4(ATP13A2):c.2859+5G>C rs1164759435 0.00001
NM_022089.4(ATP13A2):c.2867C>T (p.Thr956Ile) rs752784549 0.00001
NM_022089.4(ATP13A2):c.2905G>A (p.Val969Ile) rs769445714 0.00001
NM_022089.4(ATP13A2):c.2939G>A (p.Arg980His) rs150748722 0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met) rs764162255 0.00001
NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) rs750963832 0.00001
NM_022089.4(ATP13A2):c.3164G>C (p.Ser1055Thr) rs1046254851 0.00001
NM_022089.4(ATP13A2):c.3175C>T (p.Leu1059Phe) rs764410859 0.00001
NM_022089.4(ATP13A2):c.334A>G (p.Ile112Val) rs747340052 0.00001
NM_022089.4(ATP13A2):c.3356T>G (p.Leu1119Arg) rs375453342 0.00001
NM_022089.4(ATP13A2):c.340G>A (p.Glu114Lys) rs757224113 0.00001
NM_022089.4(ATP13A2):c.3434G>A (p.Cys1145Tyr) rs756071133 0.00001
NM_022089.4(ATP13A2):c.3440G>A (p.Arg1147His) rs971337693 0.00001
NM_022089.4(ATP13A2):c.3538A>T (p.Arg1180Trp) rs774920921 0.00001
NM_022089.4(ATP13A2):c.385C>T (p.Arg129Trp) rs1318096890 0.00001
NM_022089.4(ATP13A2):c.386G>A (p.Arg129Gln) rs762570832 0.00001
NM_022089.4(ATP13A2):c.464T>G (p.Val155Gly) rs1333931944 0.00001
NM_022089.4(ATP13A2):c.509G>T (p.Gly170Val) rs1369312171 0.00001
NM_022089.4(ATP13A2):c.529G>A (p.Glu177Lys) rs1323958366 0.00001
NM_022089.4(ATP13A2):c.59C>T (p.Thr20Met) rs773699589 0.00001
NM_022089.4(ATP13A2):c.668T>C (p.Ile223Thr) rs771489150 0.00001
NM_022089.4(ATP13A2):c.769T>C (p.Tyr257His) rs370403918 0.00001
NM_022089.4(ATP13A2):c.816C>G (p.Cys272Trp) rs755969305 0.00001
NM_025137.4(SPG11):c.1031C>T (p.Ser344Leu) rs776948550 0.00001
NM_025137.4(SPG11):c.1045A>G (p.Ile349Val) rs889642538 0.00001
NM_025137.4(SPG11):c.1103A>G (p.His368Arg) rs151226459 0.00001
NM_025137.4(SPG11):c.114G>A (p.Met38Ile) rs886051185 0.00001
NM_025137.4(SPG11):c.1207C>T (p.His403Tyr) rs1331463203 0.00001
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly) rs747719668 0.00001
NM_025137.4(SPG11):c.1276G>A (p.Glu426Lys) rs1158245810 0.00001
NM_025137.4(SPG11):c.130C>T (p.Arg44Trp) rs1304995096 0.00001
NM_025137.4(SPG11):c.1324G>A (p.Glu442Lys) rs1453401298 0.00001
NM_025137.4(SPG11):c.1383G>T (p.Gln461His) rs932177370 0.00001
NM_025137.4(SPG11):c.1393C>T (p.Leu465Phe) rs2084776558 0.00001
NM_025137.4(SPG11):c.150G>C (p.Gln50His) rs745498485 0.00001
NM_025137.4(SPG11):c.1513C>T (p.Leu505Phe) rs752258108 0.00001
NM_025137.4(SPG11):c.1526G>A (p.Gly509Glu) rs1418238531 0.00001
NM_025137.4(SPG11):c.1561A>G (p.Asn521Asp) rs770720509 0.00001
NM_025137.4(SPG11):c.1575G>T (p.Arg525Ser) rs1242845025 0.00001
NM_025137.4(SPG11):c.1589T>C (p.Ile530Thr) rs779031089 0.00001
NM_025137.4(SPG11):c.15A>T (p.Glu5Asp) rs1444959753 0.00001
NM_025137.4(SPG11):c.1632A>G (p.Thr544=) rs368683333 0.00001
NM_025137.4(SPG11):c.1649A>G (p.Lys550Arg) rs529146881 0.00001
NM_025137.4(SPG11):c.1667T>G (p.Phe556Cys) rs375399685 0.00001
NM_025137.4(SPG11):c.1681A>G (p.Lys561Glu) rs1189064880 0.00001
NM_025137.4(SPG11):c.1753C>T (p.Pro585Ser) rs863224795 0.00001
NM_025137.4(SPG11):c.1759T>G (p.Leu587Val) rs1438765066 0.00001
NM_025137.4(SPG11):c.1777G>A (p.Ala593Thr) rs971713077 0.00001
NM_025137.4(SPG11):c.1780A>G (p.Ile594Val) rs762177930 0.00001
NM_025137.4(SPG11):c.179C>T (p.Ala60Val) rs2085181882 0.00001
NM_025137.4(SPG11):c.1830G>C (p.Leu610Phe) rs1269762029 0.00001
NM_025137.4(SPG11):c.1831C>T (p.Leu611Phe) rs747979962 0.00001
NM_025137.4(SPG11):c.1871A>G (p.Glu624Gly) rs1022198629 0.00001
NM_025137.4(SPG11):c.187C>G (p.Leu63Val) rs754196423 0.00001
NM_025137.4(SPG11):c.191A>G (p.Gln64Arg) rs1231166649 0.00001
NM_025137.4(SPG11):c.1930A>T (p.Thr644Ser) rs776451921 0.00001
NM_025137.4(SPG11):c.1988A>G (p.Asp663Gly) rs1369245036 0.00001
NM_025137.4(SPG11):c.2026A>C (p.Lys676Gln) rs775487537 0.00001
NM_025137.4(SPG11):c.2027A>G (p.Lys676Arg) rs771884916 0.00001
NM_025137.4(SPG11):c.2129T>C (p.Ile710Thr) rs368686728 0.00001
NM_025137.4(SPG11):c.2158G>A (p.Glu720Lys) rs752347098 0.00001
NM_025137.4(SPG11):c.2199A>T (p.Leu733Phe) rs370856739 0.00001
NM_025137.4(SPG11):c.2200A>G (p.Lys734Glu) rs1381618021 0.00001
NM_025137.4(SPG11):c.2206A>G (p.Asn736Asp) rs775711520 0.00001
NM_025137.4(SPG11):c.2234T>G (p.Leu745Trp) rs1448574986 0.00001
NM_025137.4(SPG11):c.2305C>T (p.Arg769Cys) rs758119635 0.00001
NM_025137.4(SPG11):c.230G>A (p.Arg77His) rs1160672319 0.00001
NM_025137.4(SPG11):c.2317G>A (p.Val773Ile) rs766696581 0.00001
NM_025137.4(SPG11):c.2321A>C (p.Glu774Ala) rs566318835 0.00001
NM_025137.4(SPG11):c.2445G>A (p.Arg815=) rs748048928 0.00001
NM_025137.4(SPG11):c.2470T>C (p.Phe824Leu) rs1157197953 0.00001
NM_025137.4(SPG11):c.2509G>C (p.Asp837His) rs762708084 0.00001
NM_025137.4(SPG11):c.250T>C (p.Phe84Leu) rs749011406 0.00001
NM_025137.4(SPG11):c.2518G>A (p.Asp840Asn) rs769653781 0.00001
NM_025137.4(SPG11):c.2571G>T (p.Trp857Cys) rs200542854 0.00001
NM_025137.4(SPG11):c.2594T>C (p.Ile865Thr) rs1444447384 0.00001
NM_025137.4(SPG11):c.2620+4A>C rs765873301 0.00001
NM_025137.4(SPG11):c.2620+6T>C rs762381864 0.00001
NM_025137.4(SPG11):c.265T>C (p.Trp89Arg) rs767024812 0.00001
NM_025137.4(SPG11):c.2717A>G (p.Gln906Arg) rs2083706533 0.00001
NM_025137.4(SPG11):c.2765T>C (p.Val922Ala) rs780318629 0.00001
NM_025137.4(SPG11):c.2774T>C (p.Ile925Thr) rs779573001 0.00001
NM_025137.4(SPG11):c.2801A>G (p.Tyr934Cys) rs777473151 0.00001
NM_025137.4(SPG11):c.2807G>A (p.Arg936Lys) rs755774331 0.00001
NM_025137.4(SPG11):c.2821G>C (p.Asp941His) rs767177124 0.00001
NM_025137.4(SPG11):c.2894G>C (p.Ser965Thr) rs1329747068 0.00001
NM_025137.4(SPG11):c.2937C>A (p.Asn979Lys) rs141238220 0.00001
NM_025137.4(SPG11):c.2966A>G (p.His989Arg) rs752882400 0.00001
NM_025137.4(SPG11):c.2991G>A (p.Leu997=) rs200122358 0.00001
NM_025137.4(SPG11):c.3019G>A (p.Val1007Ile) rs2083566874 0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser) rs758322703 0.00001
NM_025137.4(SPG11):c.3122G>A (p.Arg1041Gln) rs746703646 0.00001
NM_025137.4(SPG11):c.3134G>A (p.Ser1045Asn) rs749192217 0.00001
NM_025137.4(SPG11):c.3213T>G (p.Ser1071Arg) rs145195036 0.00001
NM_025137.4(SPG11):c.3221G>C (p.Ser1074Thr) rs758982525 0.00001
NM_025137.4(SPG11):c.3225G>T (p.Met1075Ile) rs1204053852 0.00001
NM_025137.4(SPG11):c.3265A>G (p.Met1089Val) rs766016524 0.00001
NM_025137.4(SPG11):c.3266T>C (p.Met1089Thr) rs1291491649 0.00001
NM_025137.4(SPG11):c.3280G>T (p.Gly1094Cys) rs1349552147 0.00001
NM_025137.4(SPG11):c.3291+3A>G rs773192977 0.00001
NM_025137.4(SPG11):c.32C>T (p.Ala11Val) rs911245988 0.00001
NM_025137.4(SPG11):c.3331G>A (p.Val1111Met) rs1291873470 0.00001
NM_025137.4(SPG11):c.336A>C (p.Glu112Asp) rs1488126503 0.00001
NM_025137.4(SPG11):c.3403A>T (p.Thr1135Ser) rs1404221624 0.00001
NM_025137.4(SPG11):c.3412A>G (p.Ser1138Gly) rs377351819 0.00001
NM_025137.4(SPG11):c.3453+5A>G rs983973496 0.00001
NM_025137.4(SPG11):c.3505A>G (p.Thr1169Ala) rs760533714 0.00001
NM_025137.4(SPG11):c.3538C>A (p.Pro1180Thr) rs747910594 0.00001
NM_025137.4(SPG11):c.3586C>T (p.Arg1196Cys) rs767936997 0.00001
NM_025137.4(SPG11):c.3587G>A (p.Arg1196His) rs373641013 0.00001
NM_025137.4(SPG11):c.3616G>A (p.Gly1206Arg) rs1291602088 0.00001
NM_025137.4(SPG11):c.3620G>A (p.Arg1207Gln) rs768433207 0.00001
NM_025137.4(SPG11):c.3680A>G (p.Lys1227Arg) rs767920399 0.00001
NM_025137.4(SPG11):c.3692A>G (p.Gln1231Arg) rs374647717 0.00001
NM_025137.4(SPG11):c.3710C>T (p.Ala1237Val) rs752883289 0.00001
NM_025137.4(SPG11):c.3713A>G (p.Tyr1238Cys) rs150720530 0.00001
NM_025137.4(SPG11):c.3719T>C (p.Ile1240Thr) rs770843397 0.00001
NM_025137.4(SPG11):c.3803T>C (p.Leu1268Pro) rs1036205200 0.00001
NM_025137.4(SPG11):c.3851G>A (p.Arg1284Lys) rs748208459 0.00001
NM_025137.4(SPG11):c.3892+5A>C rs758774049 0.00001
NM_025137.4(SPG11):c.3893-3C>T rs958984875 0.00001
NM_025137.4(SPG11):c.3893C>T (p.Ala1298Val) rs768718170 0.00001
NM_025137.4(SPG11):c.3946C>T (p.Leu1316Phe) rs764652074 0.00001
NM_025137.4(SPG11):c.3969A>G (p.Thr1323=) rs1188260876 0.00001
NM_025137.4(SPG11):c.4002G>C (p.Arg1334Ser) rs1085307814 0.00001
NM_025137.4(SPG11):c.4085T>C (p.Leu1362Pro) rs757078269 0.00001
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys) rs200700774 0.00001
NM_025137.4(SPG11):c.4145A>G (p.Asn1382Ser) rs544040175 0.00001
NM_025137.4(SPG11):c.4148A>G (p.Tyr1383Cys) rs1020900055 0.00001
NM_025137.4(SPG11):c.4185C>G (p.Phe1395Leu) rs138850981 0.00001
NM_025137.4(SPG11):c.4201G>C (p.Asp1401His) rs745439746 0.00001
NM_025137.4(SPG11):c.4216G>T (p.Ala1406Ser) rs748925327 0.00001
NM_025137.4(SPG11):c.4309G>C (p.Glu1437Gln) rs1595860365 0.00001
NM_025137.4(SPG11):c.4318G>A (p.Asp1440Asn) rs569349723 0.00001
NM_025137.4(SPG11):c.4371G>C (p.Trp1457Cys) rs886819382 0.00001
NM_025137.4(SPG11):c.4378G>A (p.Val1460Ile) rs765071316 0.00001
NM_025137.4(SPG11):c.4405A>G (p.Ile1469Val) rs767802753 0.00001
NM_025137.4(SPG11):c.4498A>G (p.Thr1500Ala) rs758867131 0.00001
NM_025137.4(SPG11):c.4548C>G (p.Asn1516Lys) rs759489082 0.00001
NM_025137.4(SPG11):c.4561T>C (p.Ser1521Pro) rs748236366 0.00001
NM_025137.4(SPG11):c.4667A>G (p.Tyr1556Cys) rs1374442173 0.00001
NM_025137.4(SPG11):c.4702G>A (p.Ala1568Thr) rs767343843 0.00001
NM_025137.4(SPG11):c.4739A>G (p.Glu1580Gly) rs1035956118 0.00001
NM_025137.4(SPG11):c.4742C>T (p.Thr1581Met) rs766297012 0.00001
NM_025137.4(SPG11):c.4743G>A (p.Thr1581=) rs762755586 0.00001
NM_025137.4(SPG11):c.4750A>G (p.Thr1584Ala) rs1595851014 0.00001
NM_025137.4(SPG11):c.4753G>T (p.Ala1585Ser) rs1567143067 0.00001
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly) rs1332100392 0.00001
NM_025137.4(SPG11):c.4786A>G (p.Met1596Val) rs1316107379 0.00001
NM_025137.4(SPG11):c.4801C>G (p.Gln1601Glu) rs764442362 0.00001
NM_025137.4(SPG11):c.4822C>T (p.Leu1608Phe) rs1205123910 0.00001
NM_025137.4(SPG11):c.4827G>A (p.Met1609Ile) rs1208218561 0.00001
NM_025137.4(SPG11):c.4877T>G (p.Phe1626Cys) rs553905886 0.00001
NM_025137.4(SPG11):c.4910C>A (p.Pro1637Gln) rs755996252 0.00001
NM_025137.4(SPG11):c.4933C>T (p.Leu1645Phe) rs147735958 0.00001
NM_025137.4(SPG11):c.4950G>T (p.Lys1650Asn) rs764587462 0.00001
NM_025137.4(SPG11):c.496C>G (p.Leu166Val) rs372037097 0.00001
NM_025137.4(SPG11):c.4970A>G (p.Asn1657Ser) rs376207036 0.00001
NM_025137.4(SPG11):c.5059G>A (p.Ala1687Thr) rs779161014 0.00001
NM_025137.4(SPG11):c.5077G>A (p.Ala1693Thr) rs753244084 0.00001
NM_025137.4(SPG11):c.5081A>T (p.Glu1694Val) rs2082747020 0.00001
NM_025137.4(SPG11):c.5156A>G (p.Glu1719Gly) rs769858527 0.00001
NM_025137.4(SPG11):c.5249C>T (p.Ser1750Phe) rs1051920299 0.00001
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly) rs1185441476 0.00001
NM_025137.4(SPG11):c.5269C>T (p.His1757Tyr) rs1060501170 0.00001
NM_025137.4(SPG11):c.5272G>A (p.Val1758Met) rs773125953 0.00001
NM_025137.4(SPG11):c.5275G>T (p.Ala1759Ser) rs1346852806 0.00001
NM_025137.4(SPG11):c.5303G>C (p.Ser1768Thr) rs1006117026 0.00001
NM_025137.4(SPG11):c.5306T>C (p.Met1769Thr) rs748258958 0.00001
NM_025137.4(SPG11):c.536C>A (p.Pro179His) rs144167846 0.00001
NM_025137.4(SPG11):c.5392G>A (p.Glu1798Lys) rs201254271 0.00001
NM_025137.4(SPG11):c.5416A>G (p.Ile1806Val) rs1427065816 0.00001
NM_025137.4(SPG11):c.5434G>C (p.Gly1812Arg) rs1309027007 0.00001
NM_025137.4(SPG11):c.5489G>A (p.Gly1830Asp) rs529748787 0.00001
NM_025137.4(SPG11):c.5564T>C (p.Leu1855Ser) rs138009927 0.00001
NM_025137.4(SPG11):c.5648G>A (p.Gly1883Glu) rs1298405606 0.00001
NM_025137.4(SPG11):c.5651G>T (p.Arg1884Leu) rs767776590 0.00001
NM_025137.4(SPG11):c.5669G>A (p.Cys1890Tyr) rs770861439 0.00001
NM_025137.4(SPG11):c.566A>G (p.Asn189Ser) rs752834137 0.00001
NM_025137.4(SPG11):c.5671G>A (p.Val1891Met) rs1483911645 0.00001
NM_025137.4(SPG11):c.5688A>C (p.Arg1896Ser) rs2082706047 0.00001
NM_025137.4(SPG11):c.568T>C (p.Cys190Arg) rs767712066 0.00001
NM_025137.4(SPG11):c.5720A>G (p.Asp1907Gly) rs1158214037 0.00001
NM_025137.4(SPG11):c.5741G>T (p.Cys1914Phe) rs752725391 0.00001
NM_025137.4(SPG11):c.5786C>G (p.Pro1929Arg) rs375020581 0.00001
NM_025137.4(SPG11):c.5841C>G (p.Asp1947Glu) rs372380495 0.00001
NM_025137.4(SPG11):c.5860C>T (p.His1954Tyr) rs368382627 0.00001
NM_025137.4(SPG11):c.5920G>T (p.Val1974Leu) rs770707105 0.00001
NM_025137.4(SPG11):c.5947A>C (p.Lys1983Gln) rs1198502086 0.00001
NM_025137.4(SPG11):c.5975G>A (p.Arg1992Gln) rs141262934 0.00001
NM_025137.4(SPG11):c.5987G>C (p.Cys1996Ser) rs1567132702 0.00001
NM_025137.4(SPG11):c.599T>C (p.Val200Ala) rs553484553 0.00001
NM_025137.4(SPG11):c.6009G>T (p.Glu2003Asp) rs954483795 0.00001
NM_025137.4(SPG11):c.6011T>C (p.Leu2004Ser) rs995829315 0.00001
NM_025137.4(SPG11):c.6017G>A (p.Cys2006Tyr) rs1179229360 0.00001
NM_025137.4(SPG11):c.6061C>T (p.Arg2021Trp) rs777943276 0.00001
NM_025137.4(SPG11):c.6067A>G (p.Ile2023Val) rs981262919 0.00001
NM_025137.4(SPG11):c.6092G>A (p.Arg2031Gln) rs1365555358 0.00001
NM_025137.4(SPG11):c.6101G>A (p.Arg2034Gln) rs750101301 0.00001
NM_025137.4(SPG11):c.6155T>C (p.Leu2052Pro) rs1430100305 0.00001
NM_025137.4(SPG11):c.6175C>T (p.Arg2059Trp) rs755438310 0.00001
NM_025137.4(SPG11):c.6180G>C (p.Glu2060Asp) rs753980126 0.00001
NM_025137.4(SPG11):c.6209A>G (p.His2070Arg) rs202069061 0.00001
NM_025137.4(SPG11):c.6226C>A (p.Pro2076Thr) rs755953167 0.00001
NM_025137.4(SPG11):c.6326A>G (p.His2109Arg) rs780979118 0.00001
NM_025137.4(SPG11):c.6343A>G (p.Thr2115Ala) rs2082447213 0.00001
NM_025137.4(SPG11):c.6380C>A (p.Thr2127Asn) rs773909173 0.00001
NM_025137.4(SPG11):c.6395T>C (p.Met2132Thr) rs771913148 0.00001
NM_025137.4(SPG11):c.6397G>A (p.Glu2133Lys) rs2082402813 0.00001
NM_025137.4(SPG11):c.6406A>G (p.Ile2136Val) rs370189964 0.00001
NM_025137.4(SPG11):c.6428A>C (p.His2143Pro) rs1490278448 0.00001
NM_025137.4(SPG11):c.6470G>A (p.Gly2157Glu) rs1437823754 0.00001
NM_025137.4(SPG11):c.650G>A (p.Ser217Asn) rs1037956688 0.00001
NM_025137.4(SPG11):c.6511G>A (p.Glu2171Lys) rs1051526194 0.00001
NM_025137.4(SPG11):c.6526T>C (p.Phe2176Leu) rs752165478 0.00001
NM_025137.4(SPG11):c.6559G>A (p.Val2187Met) rs2082372397 0.00001
NM_025137.4(SPG11):c.6577T>G (p.Leu2193Val) rs772999696 0.00001
NM_025137.4(SPG11):c.6584C>T (p.Pro2195Leu) rs765217079 0.00001
NM_025137.4(SPG11):c.6585G>A (p.Pro2195=) rs1206211976 0.00001
NM_025137.4(SPG11):c.6626G>A (p.Arg2209His) rs576265832 0.00001
NM_025137.4(SPG11):c.6628T>C (p.Cys2210Arg) rs761830487 0.00001
NM_025137.4(SPG11):c.6631C>T (p.Arg2211Cys) rs148260507 0.00001
NM_025137.4(SPG11):c.6660G>A (p.Met2220Ile) rs763092541 0.00001
NM_025137.4(SPG11):c.668-5A>G rs1177386932 0.00001
NM_025137.4(SPG11):c.6685C>T (p.Arg2229Trp) rs751245734 0.00001
NM_025137.4(SPG11):c.6686G>A (p.Arg2229Gln) rs781690910 0.00001
NM_025137.4(SPG11):c.6696C>T (p.Gly2232=) rs758000490 0.00001
NM_025137.4(SPG11):c.6697G>A (p.Glu2233Lys) rs373587870 0.00001
NM_025137.4(SPG11):c.6707A>T (p.Glu2236Val) rs1428941848 0.00001
NM_025137.4(SPG11):c.6712G>A (p.Ala2238Thr) rs35504505 0.00001
NM_025137.4(SPG11):c.6718C>T (p.Arg2240Cys) rs146937747 0.00001
NM_025137.4(SPG11):c.6790C>G (p.Leu2264Val) rs1264367885 0.00001
NM_025137.4(SPG11):c.6814A>T (p.Met2272Leu) rs1186136891 0.00001
NM_025137.4(SPG11):c.6866A>G (p.Gln2289Arg) rs140563925 0.00001
NM_025137.4(SPG11):c.6871T>C (p.Cys2291Arg) rs772796744 0.00001
NM_025137.4(SPG11):c.6881T>C (p.Leu2294Pro) rs1275110844 0.00001
NM_025137.4(SPG11):c.6893T>C (p.Ile2298Thr) rs1452765602 0.00001
NM_025137.4(SPG11):c.6907C>G (p.His2303Asp) rs777915558 0.00001
NM_025137.4(SPG11):c.6908A>T (p.His2303Leu) rs1350164343 0.00001
NM_025137.4(SPG11):c.695A>G (p.Tyr232Cys) rs375915115 0.00001
NM_025137.4(SPG11):c.6989G>A (p.Arg2330Gln) rs142339015 0.00001
NM_025137.4(SPG11):c.703C>T (p.His235Tyr) rs148934301 0.00001
NM_025137.4(SPG11):c.7054T>C (p.Tyr2352His) rs149711747 0.00001
NM_025137.4(SPG11):c.7164T>A (p.His2388Gln) rs1406897126 0.00001
NM_025137.4(SPG11):c.7166A>G (p.Gln2389Arg) rs1321393268 0.00001
NM_025137.4(SPG11):c.716C>T (p.Ala239Val) rs764680914 0.00001
NM_025137.4(SPG11):c.7172C>T (p.Thr2391Ile) rs375508694 0.00001
NM_025137.4(SPG11):c.7184T>C (p.Met2395Thr) rs754598618 0.00001
NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs) rs532737377 0.00001
NM_025137.4(SPG11):c.7270G>A (p.Val2424Ile) rs1300000065 0.00001
NM_025137.4(SPG11):c.7275T>G (p.Asn2425Lys) rs778864726 0.00001
NM_025137.4(SPG11):c.7320G>A (p.Met2440Ile) rs566201722 0.00001
NM_025137.4(SPG11):c.7322T>C (p.Leu2441Pro) rs773503745 0.00001
NM_025137.4(SPG11):c.7326del (p.Gly2443fs) rs751228307 0.00001
NM_025137.4(SPG11):c.733A>G (p.Met245Val) rs863224796 0.00001
NM_025137.4(SPG11):c.757C>T (p.Pro253Ser) rs777515617 0.00001
NM_025137.4(SPG11):c.764A>C (p.Lys255Thr) rs758601401 0.00001
NM_025137.4(SPG11):c.77T>C (p.Leu26Pro) rs757155556 0.00001
NM_025137.4(SPG11):c.79C>T (p.Pro27Ser) rs777798718 0.00001
NM_025137.4(SPG11):c.800A>C (p.Asp267Ala) rs1189328432 0.00001
NM_025137.4(SPG11):c.80C>T (p.Pro27Leu) rs756011988 0.00001
NM_025137.4(SPG11):c.811G>A (p.Ala271Thr) rs770722777 0.00001
NM_025137.4(SPG11):c.838G>A (p.Ala280Thr) rs757501528 0.00001
NM_025137.4(SPG11):c.84G>T (p.Met28Ile) rs201316593 0.00001
NM_025137.4(SPG11):c.865T>A (p.Phe289Ile) rs1316470185 0.00001
NM_025137.4(SPG11):c.946G>T (p.Asp316Tyr) rs1040889072 0.00001
NM_025137.4(SPG11):c.95C>T (p.Pro32Leu) rs368405168 0.00001
NM_025137.4(SPG11):c.980T>C (p.Leu327Pro) rs201444186 0.00001
NM_025137.4(SPG11):c.999A>T (p.Gln333His) rs753613456 0.00001
NM_031448.6(C19orf12):c.-11+223G>A rs1339985700 0.00001
NM_031448.6(C19orf12):c.-6G>A rs781205888 0.00001
NM_031448.6(C19orf12):c.127G>A (p.Gly43Ser) rs1972485341 0.00001
NM_031448.6(C19orf12):c.161-2del rs1352744778 0.00001
NM_031448.6(C19orf12):c.169G>C (p.Val57Leu) rs1972190861 0.00001
NM_031448.6(C19orf12):c.170T>C (p.Val57Ala) rs766939148 0.00001
NM_031448.6(C19orf12):c.214C>T (p.Pro72Ser) rs1487944357 0.00001
NM_031448.6(C19orf12):c.221C>G (p.Pro74Arg) rs747900430 0.00001
NM_031448.6(C19orf12):c.277G>A (p.Ala93Thr) rs964208776 0.00001
NM_031448.6(C19orf12):c.326C>T (p.Ala109Val) rs752858139 0.00001
NM_031448.6(C19orf12):c.385G>A (p.Val129Ile) rs1412677570 0.00001
NM_031448.6(C19orf12):c.401G>A (p.Arg134Gln) rs778355384 0.00001
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe) rs1204865094 0.00001
NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg) rs746178765 0.00001
NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly) rs371463914 0.00001
NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser) rs1326352833 0.00001
NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile) rs759995761 0.00001
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) rs201069468 0.00001
NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys) rs759116675 0.00001
NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn) rs376210724 0.00001
NC_000001.10:g.(?_110145976)_(110173774_?)dup
NC_000001.10:g.(?_17312716)_(17338233_?)dup
NC_000001.10:g.(?_17316166)_(17338233_?)dup
NC_000001.10:g.(?_228194830)_(228566496_?)dup
NC_000003.11:g.(?_100432530)_(100467375_?)del
NC_000003.11:g.(?_100455410)_(100463785_?)del
NC_000003.11:g.(?_100463667)_(100467385_?)dup
NC_000005.9:g.(?_10250453)_(10264895_?)del
NC_000005.9:g.(?_10250453)_(10264895_?)dup
NC_000005.9:g.(?_10264748)_(10264895_?)dup
NC_000008.10:g.(?_16850399)_(20112692_?)dup
NC_000008.10:g.(?_17133886)_(17133996_?)del
NC_000008.10:g.(?_37595441)_(38961219_?)dup
NC_000008.10:g.(?_38117538)_(38961219_?)dup
NC_000010.10:g.(?_97366519)_(97366720_?)dup
NC_000010.10:g.(?_97402729)_(97413134_?)dup
NC_000014.8:g.(?_102843059)_(102843297_?)dup
NC_000014.8:g.(?_102843059)_(102964594_?)dup
NC_000014.8:g.(?_102898133)_(102968818_?)dup
NC_000014.8:g.(?_102963296)_(102964594_?)del
NC_000014.8:g.(?_102963296)_(102964594_?)dup
NC_000015.10:g.(?_44563111)_(44860174_?)dup
NC_000015.10:g.(?_44564537)_(44663657_?)dup
NC_000015.10:g.(?_44572683)_(44575041_?)del
NC_000015.10:g.(?_44585626)_(44589424_?)dup
NC_000015.10:g.(?_44626311)_(44626527_?)del
NC_000015.10:g.(?_44626321)_(44626517_?)del
NC_000015.9:g.(?_44855299)_44955865dup
NC_000015.9:g.(?_44855319)_(44867259_?)dup
NC_000015.9:g.(?_44855319)_(44878413_?)dup
NC_000015.9:g.(?_44865725)_(44867259_?)dup
NC_000015.9:g.(?_44877814)_(44955845_?)dup
NC_000015.9:g.(?_44877834)_(44881612_?)dup
NC_000015.9:g.(?_44881430)_(44955845_?)dup
NC_000015.9:g.(?_44900622)_(44955865_?)dup
NC_000016.9:g.(?_18804554)_(18812808_?)dup
NC_000017.10:g.(?_4916928)_(4927446_?)del
NC_000017.10:g.(?_4923281)_(4927456_?)del
NC_000017.10:g.(?_4926743)_(4927446_?)del
NC_000017.11:g.(?_4898726)_(5024161_?)dup
NC_000019.10:g.(?_29702692)_(29714949_?)del
NC_000019.10:g.7535557G>A
NC_000019.10:g.7535563_7535564delinsGG rs2022812491
NC_000019.10:g.7535564T>A rs1035379229
NC_000019.10:g.7535573G>A
NC_000019.10:g.7535576T>C
NC_000019.9:g.(?_30193609)_(30205846_?)dup
NC_000019.9:g.(?_30205794)_(30205836_?)del
NC_000019.9:g.(?_33167170)_(36643309_?)dup
NC_000019.9:g.(?_7527018)_(7624057_?)dup
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) rs150912462
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) rs150912462
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)
NM_001010867.4(IBA57):c.1065del (p.Lys356fs) rs2124977415
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) rs1420144150
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly) rs539907686
NM_001010867.4(IBA57):c.304G>A (p.Val102Met) rs753218907
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala) rs759005478
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser) rs2034839816
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)
NM_001010867.4(IBA57):c.341+4A>C
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
NM_001010867.4(IBA57):c.354C>A (p.His118Gln) rs1315886237
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg) rs2124976596
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr) rs2034983313
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser) rs2124976694
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) rs149136930
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)
NM_001010867.4(IBA57):c.664C>G (p.His222Asp) rs1131691510
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu) rs777266229
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys) rs1332185635
NM_001010867.4(IBA57):c.814A>G (p.Met272Val)
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met) rs375395876
NM_001010867.4(IBA57):c.89G>A (p.Arg30His) rs2034841698
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr) rs1377813001
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) rs918873125
NM_001031726.3(C19orf12):c.199dup rs398122409
NM_001166114.2(PNPLA6):c.1010T>A (p.Ile337Asn)
NM_001166114.2(PNPLA6):c.1016C>A (p.Pro339His)
NM_001166114.2(PNPLA6):c.1022G>C (p.Arg341Pro) rs745677326
NM_001166114.2(PNPLA6):c.1022G>T (p.Arg341Leu) rs745677326
NM_001166114.2(PNPLA6):c.1030C>T (p.Pro344Ser) rs2146056016
NM_001166114.2(PNPLA6):c.1048A>C (p.Thr350Pro)
NM_001166114.2(PNPLA6):c.1049C>T (p.Thr350Ile)
NM_001166114.2(PNPLA6):c.1054A>C (p.Thr352Pro) rs751885710
NM_001166114.2(PNPLA6):c.1061C>G (p.Pro354Arg)
NM_001166114.2(PNPLA6):c.1104C>G (p.Asp368Glu) rs1490230776
NM_001166114.2(PNPLA6):c.1109C>A (p.Pro370His) rs200897068
NM_001166114.2(PNPLA6):c.1126C>T (p.Arg376Trp) rs780122556
NM_001166114.2(PNPLA6):c.1129C>A (p.Pro377Thr)
NM_001166114.2(PNPLA6):c.1151C>T (p.Pro384Leu)
NM_001166114.2(PNPLA6):c.1169-12T>G
NM_001166114.2(PNPLA6):c.1199C>A (p.Thr400Asn)
NM_001166114.2(PNPLA6):c.1234A>C (p.Met412Leu)
NM_001166114.2(PNPLA6):c.1237C>T (p.Pro413Ser)
NM_001166114.2(PNPLA6):c.1246A>C (p.Ile416Leu)
NM_001166114.2(PNPLA6):c.1253-3C>A
NM_001166114.2(PNPLA6):c.1268C>G (p.Pro423Arg) rs1245401993
NM_001166114.2(PNPLA6):c.1282G>A (p.Asp428Asn)
NM_001166114.2(PNPLA6):c.1292A>G (p.Tyr431Cys) rs373050796
NM_001166114.2(PNPLA6):c.1298G>A (p.Arg433His)
NM_001166114.2(PNPLA6):c.1312G>T (p.Val438Leu) rs752915572
NM_001166114.2(PNPLA6):c.1331C>A (p.Ala444Asp) rs1599277847
NM_001166114.2(PNPLA6):c.1339G>A (p.Gly447Arg) rs373883256
NM_001166114.2(PNPLA6):c.1339G>T (p.Gly447Trp) rs373883256
NM_001166114.2(PNPLA6):c.1363-7C>G rs767541631
NM_001166114.2(PNPLA6):c.1366C>T (p.Pro456Ser)
NM_001166114.2(PNPLA6):c.1369A>G (p.Thr457Ala) rs2023214810
NM_001166114.2(PNPLA6):c.1379_1381del (p.Pro460del) rs762850838
NM_001166114.2(PNPLA6):c.1427A>G (p.Glu476Gly) rs1242705662
NM_001166114.2(PNPLA6):c.1428G>C (p.Glu476Asp) rs1555745911
NM_001166114.2(PNPLA6):c.1429T>G (p.Ser477Ala) rs2023217607
NM_001166114.2(PNPLA6):c.1438G>C (p.Gly480Arg) rs2146061174
NM_001166114.2(PNPLA6):c.1448C>T (p.Pro483Leu) rs937353646
NM_001166114.2(PNPLA6):c.1463A>T (p.Gln488Leu) rs2023219350
NM_001166114.2(PNPLA6):c.1468C>T (p.Arg490Cys) rs1458269938
NM_001166114.2(PNPLA6):c.1481G>C (p.Ser494Thr)
NM_001166114.2(PNPLA6):c.1489G>C (p.Glu497Gln) rs372128647
NM_001166114.2(PNPLA6):c.1522C>T (p.Arg508Trp) rs777484615
NM_001166114.2(PNPLA6):c.1531-10_1537dup rs770365418
NM_001166114.2(PNPLA6):c.1531-3C>T rs2023226974
NM_001166114.2(PNPLA6):c.1544T>C (p.Leu515Pro)
NM_001166114.2(PNPLA6):c.154G>A (p.Val52Met)
NM_001166114.2(PNPLA6):c.1585A>G (p.Ile529Val) rs756934322
NM_001166114.2(PNPLA6):c.1608+17_1608+18inv
NM_001166114.2(PNPLA6):c.1608+3G>T
NM_001166114.2(PNPLA6):c.1608+5G>A
NM_001166114.2(PNPLA6):c.163_186dup (p.Gly55_Val62dup) rs753682780
NM_001166114.2(PNPLA6):c.166G>T (p.Ala56Ser)
NM_001166114.2(PNPLA6):c.1673C>A (p.Ala558Glu) rs1473620669
NM_001166114.2(PNPLA6):c.1678G>A (p.Asp560Asn) rs1568415448
NM_001166114.2(PNPLA6):c.1681G>A (p.Val561Met)
NM_001166114.2(PNPLA6):c.1693G>A (p.Val565Ile) rs777182371
NM_001166114.2(PNPLA6):c.169G>C (p.Gly57Arg) rs867376735
NM_001166114.2(PNPLA6):c.1702C>G (p.Pro568Ala) rs2023573612
NM_001166114.2(PNPLA6):c.1705G>A (p.Gly569Arg)
NM_001166114.2(PNPLA6):c.1746_1748del (p.Leu583del)
NM_001166114.2(PNPLA6):c.1815-16A>C
NM_001166114.2(PNPLA6):c.1831C>T (p.Pro611Ser) rs775359901
NM_001166114.2(PNPLA6):c.1867G>A (p.Ala623Thr) rs2146087711
NM_001166114.2(PNPLA6):c.1879C>A (p.Pro627Thr) rs781473840
NM_001166114.2(PNPLA6):c.1888C>T (p.Arg630Cys)
NM_001166114.2(PNPLA6):c.188C>T (p.Thr63Met)
NM_001166114.2(PNPLA6):c.1927G>C (p.Ala643Pro)
NM_001166114.2(PNPLA6):c.193G>A (p.Val65Met)
NM_001166114.2(PNPLA6):c.1963G>A (p.Asp655Asn) rs2023598411
NM_001166114.2(PNPLA6):c.1969A>T (p.Thr657Ser)
NM_001166114.2(PNPLA6):c.197T>G (p.Leu66Arg) rs2146037449
NM_001166114.2(PNPLA6):c.1982T>G (p.Leu661Arg) rs2023598783
NM_001166114.2(PNPLA6):c.1986T>A (p.Asn662Lys) rs1568416066
NM_001166114.2(PNPLA6):c.2015G>C (p.Gly672Ala)
NM_001166114.2(PNPLA6):c.202C>T (p.Leu68Phe) rs2022847854
NM_001166114.2(PNPLA6):c.2086C>T (p.Arg696Trp) rs1252365178
NM_001166114.2(PNPLA6):c.2098G>C (p.Ala700Pro) rs931291219
NM_001166114.2(PNPLA6):c.2122G>C (p.Asp708His) rs2023621348
NM_001166114.2(PNPLA6):c.2149G>A (p.Gly717Ser) rs2146090036
NM_001166114.2(PNPLA6):c.215G>A (p.Arg72Gln)
NM_001166114.2(PNPLA6):c.2170C>A (p.Arg724Ser) rs2146090101
NM_001166114.2(PNPLA6):c.2172C>T (p.Arg724=) rs2023623281
NM_001166114.2(PNPLA6):c.2176T>C (p.Tyr726His)
NM_001166114.2(PNPLA6):c.2183A>G (p.Gln728Arg)
NM_001166114.2(PNPLA6):c.2184+3_2184+4delinsTT
NM_001166114.2(PNPLA6):c.2184+4C>A
NM_001166114.2(PNPLA6):c.2184G>C (p.Gln728His) rs2023623991
NM_001166114.2(PNPLA6):c.219G>C (p.Arg73Ser)
NM_001166114.2(PNPLA6):c.2204A>G (p.His735Arg) rs2146091516
NM_001166114.2(PNPLA6):c.2213G>A (p.Ser738Asn)
NM_001166114.2(PNPLA6):c.2239C>G (p.Gln747Glu) rs2023644797
NM_001166114.2(PNPLA6):c.224G>A (p.Arg75Gln)
NM_001166114.2(PNPLA6):c.2260+6A>C
NM_001166114.2(PNPLA6):c.2260G>C (p.Gly754Arg)
NM_001166114.2(PNPLA6):c.2261-13G>A
NM_001166114.2(PNPLA6):c.2272G>A (p.Gly758Ser)
NM_001166114.2(PNPLA6):c.2284C>A (p.His762Asn) rs2146099472
NM_001166114.2(PNPLA6):c.2289G>A (p.Ser763=)
NM_001166114.2(PNPLA6):c.2293C>G (p.Leu765Val) rs1374962353
NM_001166114.2(PNPLA6):c.233-11C>G
NM_001166114.2(PNPLA6):c.233-16C>G
NM_001166114.2(PNPLA6):c.2331C>G (p.Ile777Met)
NM_001166114.2(PNPLA6):c.2356A>G (p.Met786Val) rs2146099595
NM_001166114.2(PNPLA6):c.2386G>T (p.Ala796Ser) rs144206674
NM_001166114.2(PNPLA6):c.2401+13del
NM_001166114.2(PNPLA6):c.2411T>C (p.Leu804Pro) rs148308965
NM_001166114.2(PNPLA6):c.2422A>G (p.Ser808Gly) rs1402183916
NM_001166114.2(PNPLA6):c.2455G>A (p.Ala819Thr) rs2146100619
NM_001166114.2(PNPLA6):c.2456C>T (p.Ala819Val)
NM_001166114.2(PNPLA6):c.2518C>T (p.Arg840Cys) rs1599303242
NM_001166114.2(PNPLA6):c.2519G>C (p.Arg840Pro)
NM_001166114.2(PNPLA6):c.2533C>G (p.Gln845Glu) rs774188638
NM_001166114.2(PNPLA6):c.2541C>G (p.Asp847Glu)
NM_001166114.2(PNPLA6):c.2555C>T (p.Pro852Leu)
NM_001166114.2(PNPLA6):c.2566C>T (p.Arg856Cys) rs755352257
NM_001166114.2(PNPLA6):c.2587T>C (p.Cys863Arg) rs2146101950
NM_001166114.2(PNPLA6):c.2623A>C (p.Thr875Pro) rs1333226218
NM_001166114.2(PNPLA6):c.2634G>A (p.Gln878=)
NM_001166114.2(PNPLA6):c.2680C>G (p.Leu894Val) rs2146102825
NM_001166114.2(PNPLA6):c.2707G>A (p.Ala903Thr)
NM_001166114.2(PNPLA6):c.2708C>T (p.Ala903Val) rs1319203305
NM_001166114.2(PNPLA6):c.2711G>T (p.Gly904Val)
NM_001166114.2(PNPLA6):c.2714C>T (p.Pro905Leu) rs1301640279
NM_001166114.2(PNPLA6):c.2746A>G (p.Ser916Gly) rs2023809980
NM_001166114.2(PNPLA6):c.2774G>A (p.Arg925His)
NM_001166114.2(PNPLA6):c.2782C>T (p.Arg928Cys) rs765924753
NM_001166114.2(PNPLA6):c.2794T>C (p.Ser932Pro)
NM_001166114.2(PNPLA6):c.2797C>T (p.Arg933Cys)
NM_001166114.2(PNPLA6):c.2809_2810delinsAA (p.Ala937Asn)
NM_001166114.2(PNPLA6):c.2833A>G (p.Lys945Glu) rs958813626
NM_001166114.2(PNPLA6):c.2843C>T (p.Ser948Phe)
NM_001166114.2(PNPLA6):c.2855A>G (p.Asp952Gly) rs2023826142
NM_001166114.2(PNPLA6):c.2886G>T (p.Arg962Ser)
NM_001166114.2(PNPLA6):c.2908G>A (p.Ala970Thr) rs2023828884
NM_001166114.2(PNPLA6):c.2921G>T (p.Gly974Val) rs2023829631
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001166114.2(PNPLA6):c.2929G>A (p.Gly977Arg) rs1161640444
NM_001166114.2(PNPLA6):c.2930G>C (p.Gly977Ala)
NM_001166114.2(PNPLA6):c.2934_2936+13dup
NM_001166114.2(PNPLA6):c.2936+4A>G
NM_001166114.2(PNPLA6):c.2936+4A>T
NM_001166114.2(PNPLA6):c.2937-3C>T
NM_001166114.2(PNPLA6):c.2937-5G>A rs776211274
NM_001166114.2(PNPLA6):c.2953G>C (p.Gly985Arg)
NM_001166114.2(PNPLA6):c.3004G>C (p.Gly1002Arg) rs772547801
NM_001166114.2(PNPLA6):c.3013A>T (p.Ile1005Phe) rs1335354975
NM_001166114.2(PNPLA6):c.3016G>A (p.Gly1006Ser)
NM_001166114.2(PNPLA6):c.3028G>A (p.Gly1010Arg) rs768107851
NM_001166114.2(PNPLA6):c.3041C>T (p.Ala1014Val)
NM_001166114.2(PNPLA6):c.3077C>T (p.Ala1026Val)
NM_001166114.2(PNPLA6):c.3093+19G>T
NM_001166114.2(PNPLA6):c.3093+6T>C rs1487510973
NM_001166114.2(PNPLA6):c.3112G>A (p.Glu1038Lys)
NM_001166114.2(PNPLA6):c.3152T>A (p.Phe1051Tyr) rs755407437
NM_001166114.2(PNPLA6):c.3281-3C>T rs2023917516
NM_001166114.2(PNPLA6):c.3281G>A (p.Gly1094Asp)
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001166114.2(PNPLA6):c.3301C>T (p.Arg1101Cys) rs2146110637
NM_001166114.2(PNPLA6):c.3310A>G (p.Met1104Val) rs1176866323
NM_001166114.2(PNPLA6):c.331TCC[1] (p.Ser112del)
NM_001166114.2(PNPLA6):c.3323G>T (p.Gly1108Val)
NM_001166114.2(PNPLA6):c.3335C>A (p.Pro1112Gln) rs748506175
NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu) rs748506175
NM_001166114.2(PNPLA6):c.3337C>A (p.Leu1113Met) rs1210970179
NM_001166114.2(PNPLA6):c.3349A>G (p.Lys1117Glu) rs2146110782
NM_001166114.2(PNPLA6):c.334T>A (p.Ser112Thr) rs1193422027
NM_001166114.2(PNPLA6):c.3390T>G (p.Asn1130Lys)
NM_001166114.2(PNPLA6):c.3394C>G (p.Pro1132Ala)
NM_001166114.2(PNPLA6):c.3398-7C>A
NM_001166114.2(PNPLA6):c.3398C>T (p.Ala1133Val) rs1361220718
NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr) rs765257753
NM_001166114.2(PNPLA6):c.3417G>A (p.Met1139Ile)
NM_001166114.2(PNPLA6):c.3436G>A (p.Ala1146Thr)
NM_001166114.2(PNPLA6):c.3458A>G (p.Asp1153Gly) rs1333307739
NM_001166114.2(PNPLA6):c.3461A>G (p.Glu1154Gly) rs1176067979
NM_001166114.2(PNPLA6):c.3464C>T (p.Thr1155Met) rs1404148214
NM_001166114.2(PNPLA6):c.3473G>A (p.Ser1158Asn)
NM_001166114.2(PNPLA6):c.347C>T (p.Thr116Ile) rs769226316
NM_001166114.2(PNPLA6):c.3484G>T (p.Asp1162Tyr) rs2023998335
NM_001166114.2(PNPLA6):c.3489C>G (p.Ser1163Arg)
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001166114.2(PNPLA6):c.3526C>T (p.Pro1176Ser)
NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys) rs150230845
NM_001166114.2(PNPLA6):c.3541G>A (p.Val1181Ile) rs2146116601
NM_001166114.2(PNPLA6):c.3548T>G (p.Val1183Gly) rs757555345
NM_001166114.2(PNPLA6):c.3556A>T (p.Met1186Leu)
NM_001166114.2(PNPLA6):c.3574C>T (p.Arg1192Cys)
NM_001166114.2(PNPLA6):c.3587T>C (p.Val1196Ala) rs2146116726
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp) rs754590075
NM_001166114.2(PNPLA6):c.3609G>T (p.Glu1203Asp)
NM_001166114.2(PNPLA6):c.3626C>T (p.Ser1209Phe)
NM_001166114.2(PNPLA6):c.3643C>T (p.Arg1215Cys)
NM_001166114.2(PNPLA6):c.3644G>A (p.Arg1215His)
NM_001166114.2(PNPLA6):c.365C>G (p.Ser122Cys)
NM_001166114.2(PNPLA6):c.3699T>C (p.Tyr1233=) rs2024006172
NM_001166114.2(PNPLA6):c.3700-3C>T rs766686613
NM_001166114.2(PNPLA6):c.3701A>T (p.Asp1234Val) rs778792847
NM_001166114.2(PNPLA6):c.3709T>C (p.Tyr1237His) rs2146121420
NM_001166114.2(PNPLA6):c.3712C>A (p.Gln1238Lys) rs143072391
NM_001166114.2(PNPLA6):c.3723G>C (p.Lys1241Asn) rs1347589242
NM_001166114.2(PNPLA6):c.3725C>T (p.Ala1242Val)
NM_001166114.2(PNPLA6):c.3768G>C (p.Met1256Ile) rs878854905
NM_001166114.2(PNPLA6):c.376A>C (p.Met126Leu)
NM_001166114.2(PNPLA6):c.3781C>T (p.Arg1261Trp)
NM_001166114.2(PNPLA6):c.3782G>A (p.Arg1261Gln) rs1354670102
NM_001166114.2(PNPLA6):c.3823G>A (p.Ala1275Thr) rs139102273
NM_001166114.2(PNPLA6):c.3876G>C (p.Glu1292Asp)
NM_001166114.2(PNPLA6):c.3881C>T (p.Pro1294Leu)
NM_001166114.2(PNPLA6):c.3883A>G (p.Thr1295Ala) rs2146122983
NM_001166114.2(PNPLA6):c.3884C>G (p.Thr1295Arg)
NM_001166114.2(PNPLA6):c.3910G>A (p.Asp1304Asn)
NM_001166114.2(PNPLA6):c.3917A>G (p.Glu1306Gly)
NM_001166114.2(PNPLA6):c.3938A>C (p.Glu1313Ala) rs2024087885
NM_001166114.2(PNPLA6):c.3951C>G (p.Asp1317Glu)
NM_001166114.2(PNPLA6):c.3952G>A (p.Ala1318Thr)
NM_001166114.2(PNPLA6):c.3958C>A (p.Pro1320Thr)
NM_001166114.2(PNPLA6):c.3973G>A (p.Asp1325Asn) rs1269084486
NM_001166114.2(PNPLA6):c.3977A>C (p.Glu1326Ala) rs2024089279
NM_001166114.2(PNPLA6):c.3979G>T (p.Gly1327Trp) rs1555752329
NM_001166114.2(PNPLA6):c.3983G>T (p.Gly1328Val)
NM_001166114.2(PNPLA6):c.3998C>A (p.Ala1333Glu) rs1385761016
NM_001166114.2(PNPLA6):c.4006A>C (p.Ser1336Arg)
NM_001166114.2(PNPLA6):c.401A>C (p.Asn134Thr) rs2022879793
NM_001166114.2(PNPLA6):c.401A>G (p.Asn134Ser)
NM_001166114.2(PNPLA6):c.4024-1G>A
NM_001166114.2(PNPLA6):c.4028A>T (p.Glu1343Val) rs2024099174
NM_001166114.2(PNPLA6):c.4049A>G (p.Gln1350Arg) rs2146124636
NM_001166114.2(PNPLA6):c.4055G>A (p.Arg1352His) rs746687452
NM_001166114.2(PNPLA6):c.4055G>C (p.Arg1352Pro) rs746687452
NM_001166114.2(PNPLA6):c.4055_4056delinsAT (p.Arg1352His) rs2024100609
NM_001166114.2(PNPLA6):c.4060C>G (p.Leu1354Val) rs150392453
NM_001166114.2(PNPLA6):c.4071G>T (p.Glu1357Asp) rs1198155966
NM_001166114.2(PNPLA6):c.4078G>T (p.Gly1360Cys)
NM_001166114.2(PNPLA6):c.4095del (p.Ter1366GluextTer?) rs2024103130
NM_001166114.2(PNPLA6):c.4097G>A (p.Ter1366=)
NM_001166114.2(PNPLA6):c.414-4_414-2del rs771196056
NM_001166114.2(PNPLA6):c.421C>T (p.Arg141Cys) rs764125789
NM_001166114.2(PNPLA6):c.469G>A (p.Ala157Thr)
NM_001166114.2(PNPLA6):c.469G>T (p.Ala157Ser) rs767940871
NM_001166114.2(PNPLA6):c.493G>A (p.Glu165Lys) rs1370160653
NM_001166114.2(PNPLA6):c.555-3C>T rs764501990
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=) rs1329932060
NM_001166114.2(PNPLA6):c.598C>T (p.Arg200Cys) rs2146050796
NM_001166114.2(PNPLA6):c.656C>G (p.Pro219Arg) rs1246188701
NM_001166114.2(PNPLA6):c.678_679delinsAA (p.Gln227Lys) rs2146051181
NM_001166114.2(PNPLA6):c.685G>A (p.Gly229Arg) rs1174515690
NM_001166114.2(PNPLA6):c.697C>T (p.Leu233Phe)
NM_001166114.2(PNPLA6):c.706C>T (p.Pro236Ser) rs2023070805
NM_001166114.2(PNPLA6):c.710G>A (p.Gly237Glu) rs765649401
NM_001166114.2(PNPLA6):c.714+8G>A
NM_001166114.2(PNPLA6):c.721A>C (p.Lys241Gln)
NM_001166114.2(PNPLA6):c.782T>G (p.Leu261Arg) rs2023091581
NM_001166114.2(PNPLA6):c.797G>A (p.Gly266Asp) rs2146053653
NM_001166114.2(PNPLA6):c.805C>T (p.His269Tyr)
NM_001166114.2(PNPLA6):c.806A>C (p.His269Pro)
NM_001166114.2(PNPLA6):c.829C>T (p.Arg277Trp)
NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly) rs1433313104
NM_001166114.2(PNPLA6):c.834G>A (p.Ala278=)
NM_001166114.2(PNPLA6):c.836C>T (p.Ala279Val)
NM_001166114.2(PNPLA6):c.839G>A (p.Arg280Gln)
NM_001166114.2(PNPLA6):c.848C>G (p.Thr283Arg) rs772665971
NM_001166114.2(PNPLA6):c.848C>T (p.Thr283Met)
NM_001166114.2(PNPLA6):c.860T>A (p.Leu287Gln)
NM_001166114.2(PNPLA6):c.878C>T (p.Ser293Phe) rs1441967962
NM_001166114.2(PNPLA6):c.890C>A (p.Thr297Asn) rs777868937
NM_001166114.2(PNPLA6):c.899C>T (p.Pro300Leu)
NM_001166114.2(PNPLA6):c.919G>C (p.Val307Leu)
NM_001166114.2(PNPLA6):c.925-12C>A
NM_001166114.2(PNPLA6):c.938G>A (p.Arg313Gln) rs2023131773
NM_001166114.2(PNPLA6):c.945G>T (p.Gln315His)
NM_001166114.2(PNPLA6):c.978G>A (p.Leu326=)
NM_001351169.2(NT5C2):c.1090C>G (p.Gln364Glu) rs1590658486
NM_001351169.2(NT5C2):c.1172A>G (p.Glu391Gly) rs775006132
NM_001351169.2(NT5C2):c.1259A>G (p.Gln420Arg) rs1294333255
NM_001351169.2(NT5C2):c.1273-7_1273-4del rs747195167
NM_001351169.2(NT5C2):c.1289T>C (p.Met430Thr) rs1433755096
NM_001351169.2(NT5C2):c.1359A>C (p.Gln453His) rs1048621280
NM_001351169.2(NT5C2):c.1367G>A (p.Arg456His)
NM_001351169.2(NT5C2):c.1385C>T (p.Ala462Val) rs2134506085
NM_001351169.2(NT5C2):c.139A>G (p.Lys47Glu) rs1565150442
NM_001351169.2(NT5C2):c.1450-16G>C
NM_001351169.2(NT5C2):c.1529C>T (p.Thr510Ile)
NM_001351169.2(NT5C2):c.1582A>G (p.Ile528Val)
NM_001351169.2(NT5C2):c.1618G>A (p.Ala540Thr)
NM_001351169.2(NT5C2):c.1619C>T (p.Ala540Val)
NM_001351169.2(NT5C2):c.1662_1664del (p.Glu561del) rs1380291300
NM_001351169.2(NT5C2):c.1662_1667del (p.Glu560_Glu561del) rs1338040632
NM_001351169.2(NT5C2):c.1665GGA[3] (p.Glu560_Glu561del) rs537259520
NM_001351169.2(NT5C2):c.1665GGA[4] (p.Glu561del) rs537259520
NM_001351169.2(NT5C2):c.1665GGA[6] (p.Glu561_Ter562insGlu) rs537259520
NM_001351169.2(NT5C2):c.1665GGA[7] (p.Glu561_Ter562insGluGlu)
NM_001351169.2(NT5C2):c.1678GAA[3] (p.Glu561_Ter562insGlu)
NM_001351169.2(NT5C2):c.176-11T>A rs373347265
NM_001351169.2(NT5C2):c.176-7T>G rs2071371287
NM_001351169.2(NT5C2):c.205G>A (p.Gly69Ser)
NM_001351169.2(NT5C2):c.223G>C (p.Glu75Gln)
NM_001351169.2(NT5C2):c.227G>C (p.Arg76Thr)
NM_001351169.2(NT5C2):c.232G>A (p.Val78Ile) rs2071354086
NM_001351169.2(NT5C2):c.251A>G (p.Gln84Arg)
NM_001351169.2(NT5C2):c.277T>C (p.Ser93Pro)
NM_001351169.2(NT5C2):c.289A>G (p.Thr97Ala)
NM_001351169.2(NT5C2):c.325C>G (p.Leu109Val)
NM_001351169.2(NT5C2):c.445A>G (p.Arg149Gly) rs587777174
NM_001351169.2(NT5C2):c.481+6T>G
NM_001351169.2(NT5C2):c.616G>C (p.Asp206His)
NM_001351169.2(NT5C2):c.677T>C (p.Val226Ala)
NM_001351169.2(NT5C2):c.685G>C (p.Asp229His) rs1590754368
NM_001351169.2(NT5C2):c.721G>C (p.Glu241Gln)
NM_001351169.2(NT5C2):c.724G>T (p.Val242Leu)
NM_001351169.2(NT5C2):c.761A>G (p.Lys254Arg)
NM_001351169.2(NT5C2):c.781A>T (p.Thr261Ser)
NM_001351169.2(NT5C2):c.813+6G>A
NM_001351169.2(NT5C2):c.83G>A (p.Arg28His)
NM_001351169.2(NT5C2):c.871C>T (p.Arg291Trp)
NM_001351169.2(NT5C2):c.976G>A (p.Val326Ile) rs913937142
NM_001351169.2(NT5C2):c.982T>C (p.Ser328Pro) rs1564921342
NM_001351169.2(NT5C2):c.988+5G>C
NM_001351169.2(NT5C2):c.989-13T>G
NM_001368809.2(AMPD2):c.-119G>C
NM_001368809.2(AMPD2):c.-45C>T
NM_001368809.2(AMPD2):c.-46C>G rs1650210949
NM_001368809.2(AMPD2):c.-95T>C
NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val) rs2101153100
NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val) rs1195759768
NM_001368809.2(AMPD2):c.1080+3G>A
NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)
NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met) rs2101165160
NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)
NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser) rs2101165790
NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys) rs756027056
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225
NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys) rs1200977295
NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)
NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)
NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)
NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)
NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn) rs374652371
NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)
NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly) rs146798795
NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)
NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)
NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe) rs2101167424
NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)
NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)
NM_001368809.2(AMPD2):c.1738G>A (p.Glu580Lys) rs867766720
NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)
NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)
NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)
NM_001368809.2(AMPD2):c.1863-7C>G rs563578390
NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)
NM_001368809.2(AMPD2):c.1979G>T (p.Arg660Leu) rs955380053
NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)
NM_001368809.2(AMPD2):c.2101C>G (p.Arg701Gly) rs1264297138
NM_001368809.2(AMPD2):c.2157G>A (p.Lys719=) rs2101174469
NM_001368809.2(AMPD2):c.2162C>T (p.Pro721Leu) rs1651160667
NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly) rs762954605
NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)
NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)
NM_001368809.2(AMPD2):c.2329C>G (p.Arg777Gly) rs1651209949
NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)
NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)
NM_001368809.2(AMPD2):c.2388G>T (p.Glu796Asp) rs202071045
NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys) rs2101154665
NM_001368809.2(AMPD2):c.314G>T (p.Arg105Leu) rs1650618181
NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)
NM_001368809.2(AMPD2):c.353+3G>A
NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)
NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)
NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg) rs2101156801
NM_001368809.2(AMPD2):c.439G>C (p.Gly147Arg)
NM_001368809.2(AMPD2):c.457C>T (p.Arg153Trp) rs373334637
NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)
NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)
NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro) rs138175138
NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)
NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)
NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)
NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)
NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser) rs943933650
NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)
NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)
NM_001368809.2(AMPD2):c.809G>A (p.Arg270His) rs749468757
NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)
NM_001368809.2(AMPD2):c.832G>C (p.Val278Leu) rs770528852
NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)
NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del) rs1650781134
NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)
NM_001368809.2(AMPD2):c.861-3C>T
NM_001368809.2(AMPD2):c.913G>A (p.Val305Ile)
NM_001776.6(ENTPD1):c.1037A>G (p.Asn346Ser)
NM_001776.6(ENTPD1):c.1050G>C (p.Leu350Phe) rs1004293638
NM_001776.6(ENTPD1):c.1139A>G (p.Glu380Gly)
NM_001776.6(ENTPD1):c.1183G>C (p.Glu395Gln) rs1400517603
NM_001776.6(ENTPD1):c.1296_1301del (p.Asp432_Trp434delinsGlu)
NM_001776.6(ENTPD1):c.1303G>A (p.Glu435Lys) rs755289249
NM_001776.6(ENTPD1):c.1326+6T>C rs971522483
NM_001776.6(ENTPD1):c.1327-8G>C
NM_001776.6(ENTPD1):c.1345G>A (p.Gly449Ser) rs761374158
NM_001776.6(ENTPD1):c.1351A>C (p.Thr451Pro)
NM_001776.6(ENTPD1):c.1352C>A (p.Thr451Asn)
NM_001776.6(ENTPD1):c.1430A>G (p.Tyr477Cys)
NM_001776.6(ENTPD1):c.1441A>C (p.Met481Leu) rs1373770480
NM_001776.6(ENTPD1):c.177C>G (p.His59Gln) rs1555301559
NM_001776.6(ENTPD1):c.19T>G (p.Ser7Ala)
NM_001776.6(ENTPD1):c.259A>G (p.Lys87Glu)
NM_001776.6(ENTPD1):c.284T>C (p.Val95Ala) rs2098424427
NM_001776.6(ENTPD1):c.399C>T (p.Gly133=)
NM_001776.6(ENTPD1):c.419A>C (p.Glu140Ala)
NM_001776.6(ENTPD1):c.43A>G (p.Lys15Glu)
NM_001776.6(ENTPD1):c.479C>T (p.Pro160Leu)
NM_001776.6(ENTPD1):c.537G>T (p.Trp179Cys) rs2140853040
NM_001776.6(ENTPD1):c.551A>C (p.Tyr184Ser) rs1590121989
NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn) rs776491594
NM_001776.6(ENTPD1):c.656C>T (p.Thr219Ile)
NM_001776.6(ENTPD1):c.670G>A (p.Val224Ile) rs372290136
NM_001776.6(ENTPD1):c.718C>T (p.Arg240Cys)
NM_001776.6(ENTPD1):c.740A>G (p.Asn247Ser)
NM_001776.6(ENTPD1):c.78C>G (p.Ile26Met) rs2140559554
NM_001776.6(ENTPD1):c.808A>G (p.Ile270Val)
NM_001776.6(ENTPD1):c.871G>A (p.Val291Met)
NM_001776.6(ENTPD1):c.926T>C (p.Leu309Pro)
NM_001776.6(ENTPD1):c.979C>G (p.Gln327Glu)
NM_002361.4(MAG):c.1025C>T (p.Thr342Met)
NM_002361.4(MAG):c.1058C>T (p.Pro353Leu) rs778356275
NM_002361.4(MAG):c.105C>T (p.Gly35=)
NM_002361.4(MAG):c.1139C>G (p.Pro380Arg) rs369453547
NM_002361.4(MAG):c.1144G>T (p.Val382Leu) rs751480059
NM_002361.4(MAG):c.1156G>A (p.Asp386Asn)
NM_002361.4(MAG):c.116C>T (p.Ser39Phe) rs201798784
NM_002361.4(MAG):c.1193A>G (p.Tyr398Cys) rs2145615651
NM_002361.4(MAG):c.1246C>T (p.Leu416Phe)
NM_002361.4(MAG):c.128G>A (p.Arg43His)
NM_002361.4(MAG):c.1297G>A (p.Val433Met)
NM_002361.4(MAG):c.1387T>G (p.Ser463Ala)
NM_002361.4(MAG):c.1520-3_1520-2del
NM_002361.4(MAG):c.1523_1530del (p.Arg508fs)
NM_002361.4(MAG):c.152G>A (p.Arg51Gln)
NM_002361.4(MAG):c.1568T>C (p.Phe523Ser)
NM_002361.4(MAG):c.1576_1587dup (p.Ile529_Val530insLeuIleAlaIle)
NM_002361.4(MAG):c.1603C>G (p.Gln535Glu)
NM_002361.4(MAG):c.1687C>T (p.Arg563Cys)
NM_002361.4(MAG):c.1714G>A (p.Glu572Lys) rs1286617721
NM_002361.4(MAG):c.1727G>A (p.Arg576His)
NM_002361.4(MAG):c.1759C>T (p.Arg587Trp)
NM_002361.4(MAG):c.1811A>G (p.Lys604Arg)
NM_002361.4(MAG):c.1820C>A (p.Thr607Asn)
NM_002361.4(MAG):c.1831T>C (p.Tyr611His) rs376265373
NM_002361.4(MAG):c.1835C>T (p.Thr612Met)
NM_002361.4(MAG):c.185A>G (p.Asn62Ser)
NM_002361.4(MAG):c.230G>T (p.Arg77Leu)
NM_002361.4(MAG):c.268C>T (p.Arg90Cys)
NM_002361.4(MAG):c.269G>A (p.Arg90His)
NM_002361.4(MAG):c.318C>A (p.Asn106Lys)
NM_002361.4(MAG):c.328G>T (p.Glu110Ter) rs770788013
NM_002361.4(MAG):c.329A>C (p.Glu110Ala)
NM_002361.4(MAG):c.367G>A (p.Gly123Ser)
NM_002361.4(MAG):c.400G>A (p.Val134Ile)
NM_002361.4(MAG):c.40A>G (p.Ile14Val)
NM_002361.4(MAG):c.430G>T (p.Val144Leu)
NM_002361.4(MAG):c.46+5C>A rs200192210
NM_002361.4(MAG):c.46+6G>A
NM_002361.4(MAG):c.468G>C (p.Glu156Asp)
NM_002361.4(MAG):c.481G>C (p.Val161Leu) rs770946769
NM_002361.4(MAG):c.513G>T (p.Glu171Asp)
NM_002361.4(MAG):c.580G>A (p.Gly194Ser)
NM_002361.4(MAG):c.601C>G (p.Leu201Val)
NM_002361.4(MAG):c.608A>G (p.His203Arg)
NM_002361.4(MAG):c.619A>G (p.Thr207Ala)
NM_002361.4(MAG):c.694G>A (p.Ala232Thr)
NM_002361.4(MAG):c.706G>A (p.Val236Ile)
NM_002361.4(MAG):c.719dup (p.Val241fs) rs770601245
NM_002361.4(MAG):c.752C>T (p.Ala251Val)
NM_002361.4(MAG):c.760G>A (p.Gly254Ser)
NM_002361.4(MAG):c.785G>A (p.Gly262Glu)
NM_002361.4(MAG):c.850G>A (p.Val284Met)
NM_002361.4(MAG):c.920C>T (p.Ala307Val)
NM_002361.4(MAG):c.947G>T (p.Arg316Leu) rs370453303
NM_002361.4(MAG):c.970+3G>A
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile) rs1346763871
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu) rs868590536
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val) rs933310637
NM_002860.4(ALDH18A1):c.1078+4A>G rs1566018543
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
NM_002860.4(ALDH18A1):c.1152+6A>C
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) rs774081826
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His) rs1283928441
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly) rs370450551
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) rs201069261
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) rs770247123
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) rs757876226
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile) rs778369085
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe) rs778369085
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr) rs2139552444
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln) rs185313265
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu) rs140745368
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) rs2097840471
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly) rs1231068982
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val) rs1755139847
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro) rs2097834259
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) rs2139530815
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg) rs1250411325
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr) rs989031241
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser) rs2139530277
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) rs768807587
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr) rs2139530175
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe) rs375705932
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro) rs753553298
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser) rs1325485951
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His) rs774916138
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile) rs765567477
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu) rs762271422
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) rs2139513759
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) rs2139513721
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) rs2139513699
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) rs2139670118
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) rs553385013
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser) rs1085307589
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) rs2139670109
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) rs2139642020
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His) rs2097913334
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) rs1302919102
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile) rs2139670010
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr) rs747052164
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) rs201841420
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) rs2139609482
NM_002860.4(ALDH18A1):c.717+9A>C
NM_002860.4(ALDH18A1):c.718-3T>C
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) rs2139608040
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg) rs2139607977
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn) rs2097873418
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
NM_002860.4(ALDH18A1):c.808+3A>G
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser) rs372092118
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=) rs2097913253
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) rs768985400
NM_002860.4(ALDH18A1):c.89-3C>T
NM_002860.4(ALDH18A1):c.89-6C>G rs2097895286
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_002860.4(ALDH18A1):c.933+6A>C
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)
NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)
NM_006070.6(TFG):c.101A>T (p.Asp34Val)
NM_006070.6(TFG):c.1027C>G (p.Pro343Ala) rs750232252
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1051C>T (p.Pro351Ser) rs2149106556
NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)
NM_006070.6(TFG):c.1097T>A (p.Leu366His)
NM_006070.6(TFG):c.1111A>G (p.Met371Val) rs2095155960
NM_006070.6(TFG):c.1113G>A (p.Met371Ile)
NM_006070.6(TFG):c.1118dup (p.Pro374fs)
NM_006070.6(TFG):c.1120C>T (p.Pro374Ser) rs781504257
NM_006070.6(TFG):c.1123C>T (p.Pro375Ser)
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu) rs2095156171
NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1163T>G (p.Phe388Cys) rs2149106914
NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)
NM_006070.6(TFG):c.1178C>A (p.Thr393Asn)
NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro) rs963151000
NM_006070.6(TFG):c.160G>A (p.Val54Ile)
NM_006070.6(TFG):c.166A>G (p.Ile56Val)
NM_006070.6(TFG):c.175A>G (p.Lys59Glu)
NM_006070.6(TFG):c.17A>C (p.Asp6Ala)
NM_006070.6(TFG):c.183A>C (p.Glu61Asp)
NM_006070.6(TFG):c.184+5G>A
NM_006070.6(TFG):c.184+6A>C
NM_006070.6(TFG):c.194T>G (p.Leu65Arg) rs2149066367
NM_006070.6(TFG):c.196A>G (p.Ile66Val) rs2095056321
NM_006070.6(TFG):c.197T>C (p.Ile66Thr)
NM_006070.6(TFG):c.198A>G (p.Ile66Met) rs2095056339
NM_006070.6(TFG):c.230C>T (p.Ala77Val)
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.254A>C (p.Lys85Thr)
NM_006070.6(TFG):c.280C>A (p.Pro94Thr)
NM_006070.6(TFG):c.290T>A (p.Leu97His) rs1576366321
NM_006070.6(TFG):c.303G>C (p.Gln101His) rs746086227
NM_006070.6(TFG):c.320G>A (p.Arg107Gln)
NM_006070.6(TFG):c.330A>G (p.Ile110Met)
NM_006070.6(TFG):c.332A>C (p.Glu111Ala)
NM_006070.6(TFG):c.338G>T (p.Arg113Leu)
NM_006070.6(TFG):c.341A>G (p.Asn114Ser) rs752292956
NM_006070.6(TFG):c.34A>G (p.Ile12Val) rs2149057606
NM_006070.6(TFG):c.352C>T (p.Arg118Cys)
NM_006070.6(TFG):c.353G>A (p.Arg118His) rs376804190
NM_006070.6(TFG):c.361G>A (p.Asp121Asn)
NM_006070.6(TFG):c.361G>T (p.Asp121Tyr) rs907540820
NM_006070.6(TFG):c.373C>T (p.Pro125Ser) rs746234370
NM_006070.6(TFG):c.37A>G (p.Ile13Val) rs200695895
NM_006070.6(TFG):c.403A>G (p.Ile135Val)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg) rs1244307042
NM_006070.6(TFG):c.478del (p.Val160fs) rs2149082751
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.514A>G (p.Lys172Glu) rs2149082817
NM_006070.6(TFG):c.518A>G (p.Asn173Ser)
NM_006070.6(TFG):c.524A>G (p.Asp175Gly)
NM_006070.6(TFG):c.533A>G (p.Asn178Ser)
NM_006070.6(TFG):c.53G>C (p.Gly18Ala)
NM_006070.6(TFG):c.541_543del (p.Val181del)
NM_006070.6(TFG):c.556G>A (p.Gly186Ser) rs867024898
NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
NM_006070.6(TFG):c.567T>A (p.Asp189Glu) rs370447670
NM_006070.6(TFG):c.581-24_581-9del
NM_006070.6(TFG):c.581-8C>G
NM_006070.6(TFG):c.61A>G (p.Ile21Val)
NM_006070.6(TFG):c.61A>T (p.Ile21Phe) rs377136610
NM_006070.6(TFG):c.622G>A (p.Asp208Asn) rs34112649
NM_006070.6(TFG):c.638C>G (p.Ser213Cys) rs2095107235
NM_006070.6(TFG):c.641C>G (p.Ser214Cys)
NM_006070.6(TFG):c.641C>T (p.Ser214Phe)
NM_006070.6(TFG):c.689C>A (p.Thr230Lys)
NM_006070.6(TFG):c.689C>T (p.Thr230Ile)
NM_006070.6(TFG):c.700A>G (p.Thr234Ala)
NM_006070.6(TFG):c.701C>T (p.Thr234Ile)
NM_006070.6(TFG):c.709G>A (p.Gly237Ser)
NM_006070.6(TFG):c.715A>G (p.Ile239Val)
NM_006070.6(TFG):c.729G>A (p.Met243Ile)
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.743A>G (p.Gln248Arg) rs1576379554
NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)
NM_006070.6(TFG):c.766C>A (p.Gln256Lys)
NM_006070.6(TFG):c.776A>G (p.Gln259Arg) rs891678936
NM_006070.6(TFG):c.781C>G (p.Pro261Ala)
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
NM_006070.6(TFG):c.796C>G (p.Gln266Glu)
NM_006070.6(TFG):c.808A>C (p.Ile270Leu)
NM_006070.6(TFG):c.80A>G (p.His27Arg)
NM_006070.6(TFG):c.821-5T>C rs2149105737
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.827A>G (p.Tyr276Cys)
NM_006070.6(TFG):c.830G>A (p.Ser277Asn)
NM_006070.6(TFG):c.833A>C (p.Gln278Pro)
NM_006070.6(TFG):c.874G>A (p.Gly292Ser) rs1053918783
NM_006070.6(TFG):c.875G>C (p.Gly292Ala)
NM_006070.6(TFG):c.880C>A (p.Gln294Lys)
NM_006070.6(TFG):c.889del (p.Ser297fs)
NM_006070.6(TFG):c.898C>A (p.Pro300Thr) rs1210008384
NM_006070.6(TFG):c.898C>T (p.Pro300Ser) rs1210008384
NM_006070.6(TFG):c.923C>G (p.Pro308Arg) rs2149106095
NM_006070.6(TFG):c.923C>T (p.Pro308Leu)
NM_006070.6(TFG):c.925C>G (p.Gln309Glu)
NM_006070.6(TFG):c.928C>A (p.Gln310Lys)
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.960G>T (p.Gln320His)
NM_006070.6(TFG):c.962C>G (p.Ala321Gly)
NM_006070.6(TFG):c.968A>G (p.Asn323Ser)
NM_006070.6(TFG):c.976G>T (p.Ala326Ser) rs776620173
NM_006070.6(TFG):c.97T>C (p.Tyr33His) rs2095037556
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.986A>C (p.Tyr329Ser)
NM_006070.6(TFG):c.986dup (p.Tyr329Ter) rs2095154725
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys) rs763523148
NM_006070.6(TFG):c.99T>A (p.Tyr33Ter)
NM_006070.6(TFG):c.9_10delinsGA (p.Gln4Lys) rs2095037361
NM_006612.6(KIF1C):c.1009A>G (p.Ser337Gly)
NM_006612.6(KIF1C):c.1019+5G>A
NM_006612.6(KIF1C):c.1062C>G (p.Ile354Met)
NM_006612.6(KIF1C):c.1079C>A (p.Ala360Asp)
NM_006612.6(KIF1C):c.109A>G (p.Ile37Val)
NM_006612.6(KIF1C):c.10G>T (p.Ala4Ser)
NM_006612.6(KIF1C):c.1134G>A (p.Met378Ile)
NM_006612.6(KIF1C):c.1140G>C (p.Gln380His)
NM_006612.6(KIF1C):c.1165+16A>T rs2143325151
NM_006612.6(KIF1C):c.1189G>A (p.Val397Ile)
NM_006612.6(KIF1C):c.1223C>A (p.Pro408Gln)
NM_006612.6(KIF1C):c.1238C>T (p.Pro413Leu)
NM_006612.6(KIF1C):c.1267C>G (p.Leu423Val)
NM_006612.6(KIF1C):c.1277C>T (p.Ser426Leu) rs2143331530
NM_006612.6(KIF1C):c.1302G>C (p.Gln434His) rs144939400
NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile) rs1567722733
NM_006612.6(KIF1C):c.1336-3C>T
NM_006612.6(KIF1C):c.1415+8G>T
NM_006612.6(KIF1C):c.1487A>G (p.Lys496Arg)
NM_006612.6(KIF1C):c.152C>T (p.Thr51Ile) rs771071450
NM_006612.6(KIF1C):c.1598A>G (p.Lys533Arg)
NM_006612.6(KIF1C):c.1618C>T (p.Arg540Trp)
NM_006612.6(KIF1C):c.1619G>A (p.Arg540Gln) rs1013580197
NM_006612.6(KIF1C):c.1640G>A (p.Arg547Gln) rs764242002
NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)
NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)
NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)
NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser) rs1975068657
NM_006612.6(KIF1C):c.185C>T (p.Thr62Met)
NM_006612.6(KIF1C):c.1937+4C>T
NM_006612.6(KIF1C):c.1937+5G>A rs1393131804
NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)
NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)
NM_006612.6(KIF1C):c.2010+4A>C
NM_006612.6(KIF1C):c.2167C>T (p.Arg723Cys)
NM_006612.6(KIF1C):c.2218C>T (p.Arg740Cys)
NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp) rs201085674
NM_006612.6(KIF1C):c.2272G>C (p.Glu758Gln)
NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)
NM_006612.6(KIF1C):c.2371G>A (p.Gly791Ser)
NM_006612.6(KIF1C):c.2425G>C (p.Glu809Gln)
NM_006612.6(KIF1C):c.2434G>C (p.Gly812Arg)
NM_006612.6(KIF1C):c.2468A>T (p.Glu823Val)
NM_006612.6(KIF1C):c.2476C>G (p.Arg826Gly)
NM_006612.6(KIF1C):c.2512G>T (p.Asp838Tyr)
NM_006612.6(KIF1C):c.2516A>G (p.Lys839Arg)
NM_006612.6(KIF1C):c.2566C>T (p.Arg856Trp)
NM_006612.6(KIF1C):c.2584C>T (p.Arg862Trp)
NM_006612.6(KIF1C):c.2597T>A (p.Leu866His) rs2143389526
NM_006612.6(KIF1C):c.2599C>T (p.Arg867Cys)
NM_006612.6(KIF1C):c.2600G>C (p.Arg867Pro)
NM_006612.6(KIF1C):c.2646_2647delinsCC (p.Glu883Gln)
NM_006612.6(KIF1C):c.2650G>A (p.Glu884Lys) rs1297313354
NM_006612.6(KIF1C):c.2666C>T (p.Pro889Leu)
NM_006612.6(KIF1C):c.271G>A (p.Val91Met)
NM_006612.6(KIF1C):c.2737C>T (p.Pro913Ser)
NM_006612.6(KIF1C):c.2740C>T (p.Pro914Ser) rs2143392621
NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr) rs1555571945
NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)
NM_006612.6(KIF1C):c.2853_2861del (p.949LQG[1])
NM_006612.6(KIF1C):c.2872C>T (p.Arg958Trp)
NM_006612.6(KIF1C):c.2878G>C (p.Gly960Arg)
NM_006612.6(KIF1C):c.2902C>A (p.Arg968Ser)
NM_006612.6(KIF1C):c.2908G>A (p.Val970Met)
NM_006612.6(KIF1C):c.2911C>A (p.Pro971Thr)
NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr) rs372031774
NM_006612.6(KIF1C):c.2961C>G (p.His987Gln) rs1975146105
NM_006612.6(KIF1C):c.2963G>A (p.Arg988Gln)
NM_006612.6(KIF1C):c.3049G>T (p.Ala1017Ser)
NM_006612.6(KIF1C):c.3050C>T (p.Ala1017Val) rs2143394246
NM_006612.6(KIF1C):c.3052C>T (p.Arg1018Cys)
NM_006612.6(KIF1C):c.3071G>C (p.Arg1024Pro)
NM_006612.6(KIF1C):c.3082C>T (p.His1028Tyr)
NM_006612.6(KIF1C):c.3086C>T (p.Pro1029Leu)
NM_006612.6(KIF1C):c.3089G>A (p.Arg1030His)
NM_006612.6(KIF1C):c.3116G>A (p.Arg1039Gln)
NM_006612.6(KIF1C):c.311C>T (p.Ser104Phe) rs572156268
NM_006612.6(KIF1C):c.3127G>A (p.Ala1043Thr) rs1199087791
NM_006612.6(KIF1C):c.3140A>G (p.Gln1047Arg) rs1240123302
NM_006612.6(KIF1C):c.3229C>T (p.Arg1077Cys)
NM_006612.6(KIF1C):c.3239C>G (p.Pro1080Arg)
NM_006612.6(KIF1C):c.3239del (p.Pro1080fs) rs753993722
NM_006612.6(KIF1C):c.3253C>T (p.Pro1085Ser)
NM_006612.6(KIF1C):c.3265C>T (p.Arg1089Trp)
NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys) rs1975158981
NM_006612.6(KIF1C):c.334G>A (p.Glu112Lys)
NM_006612.6(KIF1C):c.355G>A (p.Val119Met)
NM_006612.6(KIF1C):c.385C>T (p.Arg129Cys) rs745851014
NM_006612.6(KIF1C):c.386G>A (p.Arg129His)
NM_006612.6(KIF1C):c.416C>G (p.Ser139Cys)
NM_006612.6(KIF1C):c.463C>G (p.Arg155Gly) rs1291871672
NM_006612.6(KIF1C):c.487C>T (p.Arg163Trp)
NM_006612.6(KIF1C):c.53G>A (p.Arg18His)
NM_006612.6(KIF1C):c.548A>C (p.Lys183Thr) rs1974623326
NM_006612.6(KIF1C):c.588G>T (p.Met196Ile)
NM_006612.6(KIF1C):c.608+2_608+3dup rs1597841997
NM_006612.6(KIF1C):c.608+6G>A rs2143313510
NM_006612.6(KIF1C):c.608G>A (p.Arg203Gln)
NM_006612.6(KIF1C):c.713C>T (p.Ser238Leu)
NM_006612.6(KIF1C):c.743A>G (p.Asp248Gly)
NM_006612.6(KIF1C):c.764C>A (p.Ala255Asp)
NM_006612.6(KIF1C):c.798+5G>A rs1974659801
NM_006612.6(KIF1C):c.803G>C (p.Gly268Ala)
NM_006612.6(KIF1C):c.850G>A (p.Ala284Thr)
NM_006612.6(KIF1C):c.953G>A (p.Arg318His)
NM_006612.6(KIF1C):c.992A>G (p.Asn331Ser)
NM_012073.5(CCT5):c.1006G>A (p.Ala336Thr)
NM_012073.5(CCT5):c.1009A>G (p.Thr337Ala)
NM_012073.5(CCT5):c.1024G>A (p.Val342Ile)
NM_012073.5(CCT5):c.1078C>A (p.Gln360Lys) rs368250896
NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)
NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln)
NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser)
NM_012073.5(CCT5):c.1250G>A (p.Arg417His) rs761273276
NM_012073.5(CCT5):c.1317+3A>G
NM_012073.5(CCT5):c.1322C>A (p.Pro441His)
NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) rs1554011822
NM_012073.5(CCT5):c.1384C>T (p.Leu462Phe)
NM_012073.5(CCT5):c.139A>G (p.Thr47Ala)
NM_012073.5(CCT5):c.13G>A (p.Gly5Arg)
NM_012073.5(CCT5):c.1433G>A (p.Arg478Gln) rs1746055933
NM_012073.5(CCT5):c.1474G>A (p.Asp492Asn) rs749250007
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) rs749250007
NM_012073.5(CCT5):c.1498+3G>A
NM_012073.5(CCT5):c.1499-10T>G rs903114794
NM_012073.5(CCT5):c.1564C>G (p.Gln522Glu)
NM_012073.5(CCT5):c.1571T>C (p.Val524Ala)
NM_012073.5(CCT5):c.1623dup (p.Ter542MetextTer?)
NM_012073.5(CCT5):c.167-13C>G
NM_012073.5(CCT5):c.1A>G (p.Met1Val)
NM_012073.5(CCT5):c.1A>T (p.Met1Leu) rs765917279
NM_012073.5(CCT5):c.243G>T (p.Met81Ile)
NM_012073.5(CCT5):c.271A>G (p.Met91Val) rs1745593343
NM_012073.5(CCT5):c.33A>G (p.Glu11=)
NM_012073.5(CCT5):c.382A>G (p.Ile128Val)
NM_012073.5(CCT5):c.40C>T (p.Arg14Cys)
NM_012073.5(CCT5):c.426_427inv (p.Val143Ile)
NM_012073.5(CCT5):c.433A>G (p.Ile145Val)
NM_012073.5(CCT5):c.469G>T (p.Val157Phe)
NM_012073.5(CCT5):c.472G>A (p.Asp158Asn)
NM_012073.5(CCT5):c.480G>C (p.Lys160Asn)
NM_012073.5(CCT5):c.544C>T (p.His182Tyr)
NM_012073.5(CCT5):c.568G>A (p.Val190Met)
NM_012073.5(CCT5):c.57C>G (p.Ile19Met)
NM_012073.5(CCT5):c.602G>A (p.Arg201Gln) rs1579451817
NM_012073.5(CCT5):c.694A>G (p.Lys232Glu)
NM_012073.5(CCT5):c.700T>A (p.Phe234Ile)
NM_012073.5(CCT5):c.703A>G (p.Ser235Gly)
NM_012073.5(CCT5):c.737C>T (p.Ala246Val)
NM_012073.5(CCT5):c.744T>G (p.Ile248Met)
NM_012073.5(CCT5):c.761C>T (p.Pro254Leu)
NM_012073.5(CCT5):c.769C>A (p.Pro257Thr)
NM_012073.5(CCT5):c.814G>A (p.Glu272Lys)
NM_012073.5(CCT5):c.85A>C (p.Met29Leu) rs773861292
NM_012073.5(CCT5):c.898G>A (p.Ala300Thr)
NM_012073.5(CCT5):c.994-17C>G
NM_014844.5(TECPR2):c.103G>A (p.Val35Met)
NM_014844.5(TECPR2):c.1216C>T (p.Pro406Ser)
NM_014844.5(TECPR2):c.1252A>G (p.Ser418Gly)
NM_014844.5(TECPR2):c.1301G>A (p.Gly434Asp)
NM_014844.5(TECPR2):c.1314G>C (p.Gln438His) rs1889509080
NM_014844.5(TECPR2):c.1342A>G (p.Ser448Gly) rs1889511402
NM_014844.5(TECPR2):c.1346C>T (p.Ser449Leu)
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del) rs572609303
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_014844.5(TECPR2):c.1415C>T (p.Thr472Ile) rs370462085
NM_014844.5(TECPR2):c.1492C>A (p.Gln498Lys) rs1018872661
NM_014844.5(TECPR2):c.1586G>C (p.Ser529Thr) rs2139730562
NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn) rs750590086
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser) rs186595127
NM_014844.5(TECPR2):c.1606G>T (p.Gly536Cys)
NM_014844.5(TECPR2):c.1610T>C (p.Val537Ala)
NM_014844.5(TECPR2):c.1651G>A (p.Glu551Lys)
NM_014844.5(TECPR2):c.1666A>G (p.Met556Val) rs201791953
NM_014844.5(TECPR2):c.1715A>G (p.His572Arg)
NM_014844.5(TECPR2):c.1715A>T (p.His572Leu)
NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys)
NM_014844.5(TECPR2):c.1897A>G (p.Ile633Val)
NM_014844.5(TECPR2):c.1945A>G (p.Thr649Ala)
NM_014844.5(TECPR2):c.1978G>A (p.Ala660Thr) rs1567340028
NM_014844.5(TECPR2):c.2007TGA[1] (p.Asp670del) rs1340395562
NM_014844.5(TECPR2):c.2101G>C (p.Val701Leu)
NM_014844.5(TECPR2):c.2124G>C (p.Gln708His) rs896270875
NM_014844.5(TECPR2):c.2147G>A (p.Arg716His)
NM_014844.5(TECPR2):c.2249C>T (p.Thr750Met)
NM_014844.5(TECPR2):c.2273A>G (p.Tyr758Cys)
NM_014844.5(TECPR2):c.2283_2284delinsTT (p.Leu762Phe)
NM_014844.5(TECPR2):c.2306C>T (p.Thr769Met)
NM_014844.5(TECPR2):c.2312T>A (p.Val771Glu) rs1555451565
NM_014844.5(TECPR2):c.2371G>A (p.Ala791Thr)
NM_014844.5(TECPR2):c.2374G>C (p.Gly792Arg)
NM_014844.5(TECPR2):c.2394+4T>C rs1567340516
NM_014844.5(TECPR2):c.2434G>A (p.Gly812Ser)
NM_014844.5(TECPR2):c.2507C>T (p.Ala836Val)
NM_014844.5(TECPR2):c.2513C>G (p.Pro838Arg) rs147312456
NM_014844.5(TECPR2):c.2513C>T (p.Pro838Leu)
NM_014844.5(TECPR2):c.2521G>A (p.Gly841Arg)
NM_014844.5(TECPR2):c.2599G>A (p.Glu867Lys)
NM_014844.5(TECPR2):c.2614C>T (p.Arg872Trp)
NM_014844.5(TECPR2):c.2617G>T (p.Ala873Ser) rs755300630
NM_014844.5(TECPR2):c.2630G>A (p.Gly877Glu)
NM_014844.5(TECPR2):c.2683G>A (p.Val895Met) rs764000123
NM_014844.5(TECPR2):c.2752+6C>T
NM_014844.5(TECPR2):c.2873A>T (p.Tyr958Phe)
NM_014844.5(TECPR2):c.2934C>T (p.Ser978=)
NM_014844.5(TECPR2):c.2953C>A (p.Pro985Thr) rs374430400
NM_014844.5(TECPR2):c.2953C>T (p.Pro985Ser)
NM_014844.5(TECPR2):c.298A>G (p.Arg100Gly)
NM_014844.5(TECPR2):c.3005A>G (p.His1002Arg)
NM_014844.5(TECPR2):c.3028G>A (p.Gly1010Ser)
NM_014844.5(TECPR2):c.3061G>A (p.Asp1021Asn)
NM_014844.5(TECPR2):c.3073C>A (p.Gln1025Lys)
NM_014844.5(TECPR2):c.3086C>T (p.Thr1029Met)
NM_014844.5(TECPR2):c.3125C>T (p.Thr1042Met)
NM_014844.5(TECPR2):c.3230A>C (p.Gln1077Pro)
NM_014844.5(TECPR2):c.3259G>A (p.Gly1087Ser)
NM_014844.5(TECPR2):c.3275C>G (p.Ser1092Trp)
NM_014844.5(TECPR2):c.3298G>A (p.Ala1100Thr)
NM_014844.5(TECPR2):c.3398C>T (p.Thr1133Met)
NM_014844.5(TECPR2):c.3451G>A (p.Val1151Ile)
NM_014844.5(TECPR2):c.3473C>T (p.Ser1158Leu)
NM_014844.5(TECPR2):c.3502G>A (p.Glu1168Lys)
NM_014844.5(TECPR2):c.3526G>A (p.Ala1176Thr)
NM_014844.5(TECPR2):c.3581C>T (p.Thr1194Met)
NM_014844.5(TECPR2):c.3704G>A (p.Gly1235Asp) rs1890527067
NM_014844.5(TECPR2):c.3709G>A (p.Val1237Ile)
NM_014844.5(TECPR2):c.3784G>A (p.Val1262Ile) rs2139771757
NM_014844.5(TECPR2):c.3787C>A (p.Gln1263Lys)
NM_014844.5(TECPR2):c.3791C>A (p.Pro1264His) rs760298134
NM_014844.5(TECPR2):c.3793G>A (p.Ala1265Thr) rs140840591
NM_014844.5(TECPR2):c.386G>A (p.Ser129Asn)
NM_014844.5(TECPR2):c.3953C>T (p.Ala1318Val)
NM_014844.5(TECPR2):c.4003C>T (p.Arg1335Trp)
NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala) rs763133422
NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro) rs77170608
NM_014844.5(TECPR2):c.4082-3C>T
NM_014844.5(TECPR2):c.408C>A (p.Ser136Arg)
NM_014844.5(TECPR2):c.4120G>A (p.Gly1374Ser)
NM_014844.5(TECPR2):c.4135C>T (p.Arg1379Trp)
NM_014844.5(TECPR2):c.4165G>A (p.Gly1389Ser)
NM_014844.5(TECPR2):c.4219G>A (p.Glu1407Lys)
NM_014844.5(TECPR2):c.523A>G (p.Ile175Val) rs914763987
NM_014844.5(TECPR2):c.524T>C (p.Ile175Thr)
NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del) rs762675550
NM_014844.5(TECPR2):c.716G>T (p.Gly239Val)
NM_014844.5(TECPR2):c.721C>T (p.Arg241Trp)
NM_014844.5(TECPR2):c.783T>G (p.Phe261Leu)
NM_014844.5(TECPR2):c.787G>A (p.Gly263Arg)
NM_014844.5(TECPR2):c.874G>A (p.Val292Ile)
NM_014844.5(TECPR2):c.916G>A (p.Glu306Lys)
NM_014844.5(TECPR2):c.937G>C (p.Asp313His)
NM_014844.5(TECPR2):c.976T>C (p.Ser326Pro) rs1889383260
NM_015161.3(ARL6IP1):c.113G>A (p.Arg38Gln)
NM_015161.3(ARL6IP1):c.17A>G (p.Asn6Ser)
NM_015161.3(ARL6IP1):c.260T>C (p.Leu87Pro)
NM_015161.3(ARL6IP1):c.263C>T (p.Ala88Val)
NM_015161.3(ARL6IP1):c.26C>G (p.Thr9Ser) rs747185659
NM_015161.3(ARL6IP1):c.324T>G (p.Ile108Met)
NM_015161.3(ARL6IP1):c.347G>A (p.Arg116Gln)
NM_015161.3(ARL6IP1):c.391G>A (p.Glu131Lys)
NM_015161.3(ARL6IP1):c.408+4C>G rs1596945553
NM_015161.3(ARL6IP1):c.433C>G (p.Leu145Val)
NM_015161.3(ARL6IP1):c.440C>T (p.Ala147Val)
NM_015161.3(ARL6IP1):c.493+5G>A
NM_015214.3(DDHD2):c.1031G>A (p.Gly344Asp)
NM_015214.3(DDHD2):c.1039A>G (p.Ile347Val)
NM_015214.3(DDHD2):c.105C>G (p.Ser35Arg) rs1358332959
NM_015214.3(DDHD2):c.1061C>T (p.Ser354Leu) rs1585731793
NM_015214.3(DDHD2):c.1067T>C (p.Ile356Thr)
NM_015214.3(DDHD2):c.1067T>G (p.Ile356Arg) rs1320383562
NM_015214.3(DDHD2):c.1154G>A (p.Gly385Glu) rs1805760221
NM_015214.3(DDHD2):c.1159A>G (p.Thr387Ala)
NM_015214.3(DDHD2):c.1168C>A (p.Leu390Ile)
NM_015214.3(DDHD2):c.1305G>C (p.Lys435Asn)
NM_015214.3(DDHD2):c.1306A>C (p.Lys436Gln)
NM_015214.3(DDHD2):c.1342A>G (p.Met448Val)
NM_015214.3(DDHD2):c.1345-3T>C
NM_015214.3(DDHD2):c.1359_1364del (p.Ala454_Pro455del)
NM_015214.3(DDHD2):c.1359_1365delinsC (p.Ala454_Pro455del) rs1585749613
NM_015214.3(DDHD2):c.1387A>G (p.Ile463Val)
NM_015214.3(DDHD2):c.1402G>A (p.Glu468Lys)
NM_015214.3(DDHD2):c.1415G>T (p.Ser472Ile)
NM_015214.3(DDHD2):c.1424C>T (p.Thr475Ile) rs2130847879
NM_015214.3(DDHD2):c.1461+6T>C
NM_015214.3(DDHD2):c.1481G>A (p.Arg494Gln)
NM_015214.3(DDHD2):c.1499A>G (p.Glu500Gly)
NM_015214.3(DDHD2):c.1514T>G (p.Phe505Cys) rs1396002402
NM_015214.3(DDHD2):c.1604A>G (p.Asn535Ser) rs777500657
NM_015214.3(DDHD2):c.1651G>C (p.Val551Leu)
NM_015214.3(DDHD2):c.1673A>G (p.Glu558Gly)
NM_015214.3(DDHD2):c.1784G>A (p.Arg595Gln) rs754698552
NM_015214.3(DDHD2):c.1910C>T (p.Thr637Ile) rs2130855471
NM_015214.3(DDHD2):c.2055-2A>G rs1806867348
NM_015214.3(DDHD2):c.2072T>C (p.Val691Ala)
NM_015214.3(DDHD2):c.2096A>G (p.Tyr699Cys)
NM_015214.3(DDHD2):c.221-1_224del rs759522859
NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr) rs797045521
NM_015214.3(DDHD2):c.241G>A (p.Val81Ile) rs1804537899
NM_015214.3(DDHD2):c.279G>T (p.Leu93Phe) rs1003263082
NM_015214.3(DDHD2):c.280G>T (p.Gly94Trp) rs202216406
NM_015214.3(DDHD2):c.296A>C (p.Tyr99Ser)
NM_015214.3(DDHD2):c.30G>C (p.Gln10His)
NM_015214.3(DDHD2):c.335G>T (p.Arg112Leu)
NM_015214.3(DDHD2):c.338G>T (p.Cys113Phe)
NM_015214.3(DDHD2):c.368A>G (p.Asn123Ser)
NM_015214.3(DDHD2):c.386C>T (p.Ser129Leu)
NM_015214.3(DDHD2):c.411+4T>C
NM_015214.3(DDHD2):c.428C>T (p.Ala143Val) rs1554512152
NM_015214.3(DDHD2):c.455A>G (p.Lys152Arg)
NM_015214.3(DDHD2):c.467C>G (p.Pro156Arg) rs1013939450
NM_015214.3(DDHD2):c.478ATT[2] (p.Ile162del)
NM_015214.3(DDHD2):c.508G>A (p.Val170Met)
NM_015214.3(DDHD2):c.556_557inv (p.Thr186Val)
NM_015214.3(DDHD2):c.58C>T (p.Pro20Ser) rs1804416698
NM_015214.3(DDHD2):c.638T>C (p.Ile213Thr)
NM_015214.3(DDHD2):c.662A>G (p.His221Arg)
NM_015214.3(DDHD2):c.695G>A (p.Arg232Gln)
NM_015214.3(DDHD2):c.707A>C (p.Gln236Pro)
NM_015214.3(DDHD2):c.820A>G (p.Ser274Gly) rs1805323544
NM_015214.3(DDHD2):c.986G>A (p.Arg329Gln)
NM_022089.4(ATP13A2):c.103G>A (p.Val35Met)
NM_022089.4(ATP13A2):c.106-13G>A
NM_022089.4(ATP13A2):c.1075G>A (p.Glu359Lys)
NM_022089.4(ATP13A2):c.1093T>C (p.Cys365Arg)
NM_022089.4(ATP13A2):c.1105C>G (p.His369Asp) rs2077158233
NM_022089.4(ATP13A2):c.1111C>T (p.Arg371Trp) rs746292302
NM_022089.4(ATP13A2):c.1120C>A (p.Leu374Ile)
NM_022089.4(ATP13A2):c.1126T>C (p.Cys376Arg) rs1570833382
NM_022089.4(ATP13A2):c.112A>G (p.Ser38Gly) rs780883238
NM_022089.4(ATP13A2):c.1145A>G (p.Gln382Arg)
NM_022089.4(ATP13A2):c.1157A>T (p.Tyr386Phe) rs762628723
NM_022089.4(ATP13A2):c.1170C>A (p.His390Gln) rs201661480
NM_022089.4(ATP13A2):c.1190G>A (p.Arg397His)
NM_022089.4(ATP13A2):c.1196G>A (p.Gly399Glu) rs2100897670
NM_022089.4(ATP13A2):c.1208C>A (p.Ala403Glu) rs373349384
NM_022089.4(ATP13A2):c.1219C>A (p.Leu407Met) rs773702054
NM_022089.4(ATP13A2):c.1227C>G (p.Ser409Arg)
NM_022089.4(ATP13A2):c.1243C>A (p.Arg415=)
NM_022089.4(ATP13A2):c.1272C>A (p.His424Gln)
NM_022089.4(ATP13A2):c.1276A>G (p.Met426Val)
NM_022089.4(ATP13A2):c.1279A>G (p.Lys427Glu)
NM_022089.4(ATP13A2):c.1306G>A (p.Ala436Thr) rs1439546959
NM_022089.4(ATP13A2):c.1322T>C (p.Ile441Thr)
NM_022089.4(ATP13A2):c.1325_1333del (p.Tyr442_Ile444del)
NM_022089.4(ATP13A2):c.1346G>A (p.Arg449Gln)
NM_022089.4(ATP13A2):c.1351C>T (p.Arg451Trp)
NM_022089.4(ATP13A2):c.1353G>A (p.Arg451=)
NM_022089.4(ATP13A2):c.1360C>G (p.Leu454Val) rs2100884368
NM_022089.4(ATP13A2):c.13A>G (p.Ser5Gly) rs2101131465
NM_022089.4(ATP13A2):c.1400T>A (p.Val467Glu)
NM_022089.4(ATP13A2):c.1422TGC[3] (p.Ala476_Met477insAla)
NM_022089.4(ATP13A2):c.1466G>A (p.Arg489Gln)
NM_022089.4(ATP13A2):c.1466G>T (p.Arg489Leu) rs760567858
NM_022089.4(ATP13A2):c.1477A>C (p.Ile493Leu) rs1570821678
NM_022089.4(ATP13A2):c.148T>C (p.Tyr50His) rs2101123287
NM_022089.4(ATP13A2):c.1498C>T (p.Arg500Cys)
NM_022089.4(ATP13A2):c.1542+13dup rs1367928615
NM_022089.4(ATP13A2):c.1564G>A (p.Gly522Ser)
NM_022089.4(ATP13A2):c.1570G>A (p.Asp524Asn)
NM_022089.4(ATP13A2):c.1589C>T (p.Pro530Leu) rs2077019285
NM_022089.4(ATP13A2):c.1591C>G (p.Leu531Val) rs2077019135
NM_022089.4(ATP13A2):c.1592T>C (p.Leu531Pro) rs2100818906
NM_022089.4(ATP13A2):c.1594_1617dup (p.Lys532_Leu539dup) rs766184032
NM_022089.4(ATP13A2):c.1621C>T (p.Pro541Ser)
NM_022089.4(ATP13A2):c.1649C>A (p.Pro550His) rs1379076892
NM_022089.4(ATP13A2):c.165G>C (p.Trp55Cys)
NM_022089.4(ATP13A2):c.1685G>A (p.Ser562Asn) rs2100815818
NM_022089.4(ATP13A2):c.1696G>A (p.Asp566Asn) rs2100815502
NM_022089.4(ATP13A2):c.1705G>A (p.Val569Met)
NM_022089.4(ATP13A2):c.1720G>A (p.Asp574Asn)
NM_022089.4(ATP13A2):c.1749+15C>G
NM_022089.4(ATP13A2):c.1749+5G>C
NM_022089.4(ATP13A2):c.1762G>A (p.Glu588Lys) rs1251315572
NM_022089.4(ATP13A2):c.1766C>A (p.Pro589Gln)
NM_022089.4(ATP13A2):c.1772C>T (p.Ala591Val) rs758957419
NM_022089.4(ATP13A2):c.1780G>A (p.Ala594Thr)
NM_022089.4(ATP13A2):c.1795G>A (p.Val599Ile) rs764411847
NM_022089.4(ATP13A2):c.1819C>G (p.Leu607Val)
NM_022089.4(ATP13A2):c.1843A>G (p.Met615Val) rs200529993
NM_022089.4(ATP13A2):c.1853C>A (p.Pro618His)
NM_022089.4(ATP13A2):c.1859T>C (p.Val620Ala) rs2100782693
NM_022089.4(ATP13A2):c.190C>T (p.Leu64Phe)
NM_022089.4(ATP13A2):c.1931C>G (p.Pro644Arg) rs2100780847
NM_022089.4(ATP13A2):c.196C>G (p.Arg66Gly)
NM_022089.4(ATP13A2):c.2028G>T (p.Met676Ile)
NM_022089.4(ATP13A2):c.2045C>T (p.Ala682Val)
NM_022089.4(ATP13A2):c.20C>T (p.Pro7Leu) rs2077535736
NM_022089.4(ATP13A2):c.2123C>T (p.Thr708Met)
NM_022089.4(ATP13A2):c.212G>C (p.Trp71Ser) rs373607247
NM_022089.4(ATP13A2):c.2130C>A (p.Asp710Glu) rs2076943011
NM_022089.4(ATP13A2):c.2134G>C (p.Val712Leu)
NM_022089.4(ATP13A2):c.2147T>G (p.Leu716Arg)
NM_022089.4(ATP13A2):c.2178C>G (p.Asn726Lys)
NM_022089.4(ATP13A2):c.2180T>C (p.Leu727Pro)
NM_022089.4(ATP13A2):c.2189C>T (p.Pro730Leu)
NM_022089.4(ATP13A2):c.218T>C (p.Val73Ala)
NM_022089.4(ATP13A2):c.2208C>G (p.Ile736Met) rs1372021672
NM_022089.4(ATP13A2):c.2218C>G (p.Arg740Gly) rs973767624
NM_022089.4(ATP13A2):c.2227C>T (p.Arg743Cys)
NM_022089.4(ATP13A2):c.2230A>G (p.Ile744Val) rs1401459588
NM_022089.4(ATP13A2):c.2239G>A (p.Val747Ile)
NM_022089.4(ATP13A2):c.2251+5A>G
NM_022089.4(ATP13A2):c.2252-12C>G
NM_022089.4(ATP13A2):c.227G>A (p.Arg76Gln)
NM_022089.4(ATP13A2):c.2305C>T (p.Pro769Ser)
NM_022089.4(ATP13A2):c.2309A>G (p.Gln770Arg) rs77630788
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile) rs56170027
NM_022089.4(ATP13A2):c.2333C>G (p.Ala778Gly)
NM_022089.4(ATP13A2):c.2339A>C (p.His780Pro) rs867014635
NM_022089.4(ATP13A2):c.2395G>A (p.Ala799Thr)
NM_022089.4(ATP13A2):c.2417C>T (p.Pro806Leu) rs2100727013
NM_022089.4(ATP13A2):c.2429C>T (p.Ala810Val)
NM_022089.4(ATP13A2):c.2451C>G (p.Asp817Glu)
NM_022089.4(ATP13A2):c.2459C>G (p.Ser820Cys)
NM_022089.4(ATP13A2):c.2464C>T (p.His822Tyr) rs2100725484
NM_022089.4(ATP13A2):c.2478C>G (p.Ser826Arg) rs147611385
NM_022089.4(ATP13A2):c.2483C>T (p.Pro828Leu) rs1235764815
NM_022089.4(ATP13A2):c.2488T>G (p.Phe830Val)
NM_022089.4(ATP13A2):c.2527A>C (p.Lys843Gln) rs2100724045
NM_022089.4(ATP13A2):c.2544C>T (p.Gly848=) rs769033175
NM_022089.4(ATP13A2):c.2548G>C (p.Val850Leu)
NM_022089.4(ATP13A2):c.2557C>G (p.Arg853Gly) rs772243999
NM_022089.4(ATP13A2):c.256G>A (p.Glu86Lys)
NM_022089.4(ATP13A2):c.258A>C (p.Glu86Asp)
NM_022089.4(ATP13A2):c.2593G>C (p.Glu865Gln)
NM_022089.4(ATP13A2):c.2675G>A (p.Gly892Asp)
NM_022089.4(ATP13A2):c.271G>A (p.Glu91Lys)
NM_022089.4(ATP13A2):c.2766G>T (p.Glu922Asp)
NM_022089.4(ATP13A2):c.2835C>A (p.Phe945Leu)
NM_022089.4(ATP13A2):c.284A>G (p.Lys95Arg) rs2101118952
NM_022089.4(ATP13A2):c.2858C>G (p.Thr953Arg) rs148721722
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.2859G>T (p.Thr953=) rs144557304
NM_022089.4(ATP13A2):c.2864A>G (p.Asn955Ser)
NM_022089.4(ATP13A2):c.2867C>G (p.Thr956Ser)
NM_022089.4(ATP13A2):c.288+13C>G rs1300682662
NM_022089.4(ATP13A2):c.2888T>C (p.Phe963Ser) rs2100659067
NM_022089.4(ATP13A2):c.2899G>C (p.Asp967His) rs772870846
NM_022089.4(ATP13A2):c.2905G>C (p.Val969Leu) rs769445714
NM_022089.4(ATP13A2):c.2910CAC[2] (p.Thr973del)
NM_022089.4(ATP13A2):c.2927T>C (p.Val976Ala) rs776148733
NM_022089.4(ATP13A2):c.2927T>G (p.Val976Gly) rs776148733
NM_022089.4(ATP13A2):c.2954T>C (p.Leu985Pro)
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.2970_2971delinsAT (p.Arg991Trp) rs2100656614
NM_022089.4(ATP13A2):c.2978C>G (p.Pro993Arg) rs146559160
NM_022089.4(ATP13A2):c.2984C>T (p.Ala995Val)
NM_022089.4(ATP13A2):c.2T>G (p.Met1Arg) rs1557729552
NM_022089.4(ATP13A2):c.3040G>C (p.Gly1014Arg)
NM_022089.4(ATP13A2):c.3041_3043dup (p.Gly1014dup) rs2100654427
NM_022089.4(ATP13A2):c.3065T>C (p.Leu1022Pro) rs2076761037
NM_022089.4(ATP13A2):c.3068C>T (p.Thr1023Ile) rs951420437
NM_022089.4(ATP13A2):c.3080C>A (p.Pro1027Gln)
NM_022089.4(ATP13A2):c.3083+5G>A
NM_022089.4(ATP13A2):c.3084-10G>T rs368908107
NM_022089.4(ATP13A2):c.3084-7C>A
NM_022089.4(ATP13A2):c.3184G>T (p.Ala1062Ser)
NM_022089.4(ATP13A2):c.3193G>T (p.Val1065Leu) rs377431904
NM_022089.4(ATP13A2):c.3206C>A (p.Ala1069Glu) rs764988645
NM_022089.4(ATP13A2):c.3206C>G (p.Ala1069Gly)
NM_022089.4(ATP13A2):c.3235+14C>T
NM_022089.4(ATP13A2):c.3239C>A (p.Pro1080His)
NM_022089.4(ATP13A2):c.3247G>C (p.Val1083Leu)
NM_022089.4(ATP13A2):c.3256G>A (p.Ala1086Thr)
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3277G>C (p.Val1093Leu) rs1057522952
NM_022089.4(ATP13A2):c.3301C>T (p.Leu1101Phe) rs886045577
NM_022089.4(ATP13A2):c.3314C>G (p.Pro1105Arg)
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser) rs145674970
NM_022089.4(ATP13A2):c.3399G>A (p.Met1133Ile)
NM_022089.4(ATP13A2):c.3408C>A (p.Ser1136Arg) rs779310083
NM_022089.4(ATP13A2):c.3422G>T (p.Cys1141Phe)
NM_022089.4(ATP13A2):c.3439C>A (p.Arg1147Ser)
NM_022089.4(ATP13A2):c.3448C>T (p.Arg1150Trp)
NM_022089.4(ATP13A2):c.3449G>A (p.Arg1150Gln)
NM_022089.4(ATP13A2):c.344G>T (p.Gly115Val)
NM_022089.4(ATP13A2):c.3458G>C (p.Arg1153Pro) rs772666861
NM_022089.4(ATP13A2):c.347+17_347+18delinsAT
NM_022089.4(ATP13A2):c.3471G>T (p.Lys1157Asn) rs2100626361
NM_022089.4(ATP13A2):c.3472C>A (p.Arg1158Ser) rs201610681
NM_022089.4(ATP13A2):c.3476T>C (p.Phe1159Ser) rs1553164387
NM_022089.4(ATP13A2):c.348C>G (p.Ser116Arg) rs2077491125
NM_022089.4(ATP13A2):c.3490C>T (p.Arg1164Ter)
NM_022089.4(ATP13A2):c.3502G>A (p.Glu1168Lys)
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3535del (p.Pro1178_Leu1179insTer) rs1570752813
NM_022089.4(ATP13A2):c.3543G>A (p.Ter1181=)
NM_022089.4(ATP13A2):c.361C>T (p.Pro121Ser) rs1421953227
NM_022089.4(ATP13A2):c.373G>C (p.Ala125Pro)
NM_022089.4(ATP13A2):c.374C>A (p.Ala125Glu)
NM_022089.4(ATP13A2):c.401T>C (p.Val134Ala) rs2101102735
NM_022089.4(ATP13A2):c.43G>A (p.Gly15Ser)
NM_022089.4(ATP13A2):c.44G>C (p.Gly15Ala) rs1287774416
NM_022089.4(ATP13A2):c.469G>A (p.Val157Ile)
NM_022089.4(ATP13A2):c.482G>A (p.Arg161Gln)
NM_022089.4(ATP13A2):c.484G>T (p.Val162Leu) rs766714391
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
NM_022089.4(ATP13A2):c.4A>T (p.Ser2Cys) rs2101432066
NM_022089.4(ATP13A2):c.508G>A (p.Gly170Ser) rs762075619
NM_022089.4(ATP13A2):c.524G>T (p.Trp175Leu) rs2077471676
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
NM_022089.4(ATP13A2):c.58A>C (p.Thr20Pro)
NM_022089.4(ATP13A2):c.598T>C (p.Ser200Pro)
NM_022089.4(ATP13A2):c.599C>G (p.Ser200Cys) rs2101047661
NM_022089.4(ATP13A2):c.629T>A (p.Met210Lys)
NM_022089.4(ATP13A2):c.631G>T (p.Val211Leu)
NM_022089.4(ATP13A2):c.703G>A (p.Glu235Lys)
NM_022089.4(ATP13A2):c.706-3C>T rs753707797
NM_022089.4(ATP13A2):c.710T>C (p.Leu237Pro)
NM_022089.4(ATP13A2):c.716C>T (p.Pro239Leu)
NM_022089.4(ATP13A2):c.73A>G (p.Ile25Val)
NM_022089.4(ATP13A2):c.811A>G (p.Ile271Val) rs561097876
NM_022089.4(ATP13A2):c.813C>G (p.Ile271Met) rs1557703924
NM_022089.4(ATP13A2):c.821C>T (p.Ser274Leu) rs1213129765
NM_022089.4(ATP13A2):c.835A>G (p.Arg279Gly)
NM_022089.4(ATP13A2):c.840+5G>A
NM_022089.4(ATP13A2):c.840G>T (p.Lys280Asn) rs1326739914
NM_022089.4(ATP13A2):c.841C>G (p.Gln281Glu) rs2077304764
NM_022089.4(ATP13A2):c.864G>A (p.Met288Ile) rs866353083
NM_022089.4(ATP13A2):c.896G>A (p.Arg299Gln)
NM_022089.4(ATP13A2):c.904G>A (p.Gly302Arg) rs948455777
NM_022089.4(ATP13A2):c.919G>A (p.Val307Met)
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser) rs752006308
NM_022089.4(ATP13A2):c.955G>C (p.Val319Leu) rs1557702165
NM_022089.4(ATP13A2):c.966G>A (p.Gln322=)
NM_025137.4(SPG11):c.1007+19_1007+20insCAGAAACTTCCTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGC rs2141107951
NM_025137.4(SPG11):c.1007+3A>G
NM_025137.4(SPG11):c.1007G>A (p.Arg336Lys) rs892937993
NM_025137.4(SPG11):c.100C>T (p.Pro34Ser) rs1060501172
NM_025137.4(SPG11):c.1028C>T (p.Ser343Leu) rs2084792703
NM_025137.4(SPG11):c.1032_1034del (p.Leu345del) rs1555381612
NM_025137.4(SPG11):c.1050_1052del (p.Lys350del)
NM_025137.4(SPG11):c.1055C>G (p.Ser352Cys) rs2141107282
NM_025137.4(SPG11):c.1061T>G (p.Leu354Arg)
NM_025137.4(SPG11):c.106G>A (p.Glu36Lys) rs1174925032
NM_025137.4(SPG11):c.107A>G (p.Glu36Gly) rs1219891696
NM_025137.4(SPG11):c.1081C>T (p.Pro361Ser) rs2084791008
NM_025137.4(SPG11):c.1124G>A (p.Gly375Asp) rs2141107015
NM_025137.4(SPG11):c.1124G>T (p.Gly375Val)
NM_025137.4(SPG11):c.1129C>G (p.His377Asp)
NM_025137.4(SPG11):c.1139G>A (p.Ser380Asn)
NM_025137.4(SPG11):c.1142T>G (p.Val381Gly) rs2084787461
NM_025137.4(SPG11):c.1152G>C (p.Trp384Cys)
NM_025137.4(SPG11):c.115G>A (p.Gly39Arg)
NM_025137.4(SPG11):c.1160T>C (p.Ile387Thr)
NM_025137.4(SPG11):c.1162C>G (p.Pro388Ala) rs2141106847
NM_025137.4(SPG11):c.1175T>C (p.Met392Thr) rs2084785700
NM_025137.4(SPG11):c.1184A>C (p.Gln395Pro) rs758480359
NM_025137.4(SPG11):c.1184A>G (p.Gln395Arg) rs758480359
NM_025137.4(SPG11):c.1190A>T (p.Asn397Ile)
NM_025137.4(SPG11):c.1192G>A (p.Val398Ile)
NM_025137.4(SPG11):c.1222G>A (p.Asp408Asn) rs1410107862
NM_025137.4(SPG11):c.1225C>T (p.Pro409Ser)
NM_025137.4(SPG11):c.122T>G (p.Leu41Arg) rs1595945198
NM_025137.4(SPG11):c.1256G>A (p.Ser419Asn) rs2084781481
NM_025137.4(SPG11):c.1275A>G (p.Ile425Met) rs978081175
NM_025137.4(SPG11):c.1288G>T (p.Val430Leu) rs778937794
NM_025137.4(SPG11):c.1321T>C (p.Trp441Arg) rs1036385500
NM_025137.4(SPG11):c.1331A>G (p.Glu444Gly)
NM_025137.4(SPG11):c.1352C>T (p.Thr451Ile) rs1567190879
NM_025137.4(SPG11):c.1355T>C (p.Leu452Pro)
NM_025137.4(SPG11):c.1355T>G (p.Leu452Arg) rs776275517
NM_025137.4(SPG11):c.1376G>T (p.Gly459Val) rs1595927055
NM_025137.4(SPG11):c.1377C>T (p.Gly459=) rs768183449
NM_025137.4(SPG11):c.1378A>G (p.Met460Val) rs2141106039
NM_025137.4(SPG11):c.1380G>A (p.Met460Ile) rs1296643524
NM_025137.4(SPG11):c.1393C>A (p.Leu465Ile) rs2084776558
NM_025137.4(SPG11):c.13G>A (p.Glu5Lys) rs1247084532
NM_025137.4(SPG11):c.1400C>T (p.Thr467Ile)
NM_025137.4(SPG11):c.1407T>G (p.Cys469Trp) rs2141105909
NM_025137.4(SPG11):c.1408A>G (p.Ile470Val) rs2141105901
NM_025137.4(SPG11):c.1422T>A (p.Ser474Arg) rs2084775958
NM_025137.4(SPG11):c.1435C>A (p.Gln479Lys) rs2141105806
NM_025137.4(SPG11):c.1456+4A>C rs1311330812
NM_025137.4(SPG11):c.1469C>G (p.Ser490Cys) rs1384102732
NM_025137.4(SPG11):c.1494A>C (p.Gln498His) rs760202776
NM_025137.4(SPG11):c.14A>G (p.Glu5Gly) rs911119510
NM_025137.4(SPG11):c.1503T>G (p.Phe501Leu) rs1060501175
NM_025137.4(SPG11):c.1528A>C (p.Ser510Arg) rs2084683038
NM_025137.4(SPG11):c.1529G>A (p.Ser510Asn) rs1408459133
NM_025137.4(SPG11):c.1535G>A (p.Ser512Asn) rs976041926
NM_025137.4(SPG11):c.1547C>T (p.Thr516Ile)
NM_025137.4(SPG11):c.1565G>A (p.Gly522Asp)
NM_025137.4(SPG11):c.1570G>A (p.Gly524Arg) rs1238362916
NM_025137.4(SPG11):c.1585C>T (p.Pro529Ser)
NM_025137.4(SPG11):c.1586C>T (p.Pro529Leu) rs964345865
NM_025137.4(SPG11):c.1588A>G (p.Ile530Val) rs746138256
NM_025137.4(SPG11):c.158C>T (p.Ala53Val) rs1302243415
NM_025137.4(SPG11):c.1592A>G (p.His531Arg) rs757589840
NM_025137.4(SPG11):c.1601A>G (p.Glu534Gly) rs778355918
NM_025137.4(SPG11):c.1605C>A (p.Ala535=)
NM_025137.4(SPG11):c.1607G>A (p.Gly536Glu) rs200428589
NM_025137.4(SPG11):c.1611A>G (p.Ile537Met)
NM_025137.4(SPG11):c.1636A>C (p.Asn546His) rs1006002015
NM_025137.4(SPG11):c.1667T>C (p.Phe556Ser) rs375399685
NM_025137.4(SPG11):c.1675T>A (p.Ser559Thr) rs773680273
NM_025137.4(SPG11):c.167G>T (p.Ser56Ile) rs1566838366
NM_025137.4(SPG11):c.1696G>A (p.Asp566Asn) rs2084145691
NM_025137.4(SPG11):c.1700A>C (p.Gln567Pro)
NM_025137.4(SPG11):c.1710C>G (p.His570Gln)
NM_025137.4(SPG11):c.1721A>G (p.His574Arg) rs1555457572
NM_025137.4(SPG11):c.1726T>G (p.Tyr576Asp) rs185829887
NM_025137.4(SPG11):c.1727A>G (p.Tyr576Cys)
NM_025137.4(SPG11):c.1735+4A>G rs2141056546
NM_025137.4(SPG11):c.173C>T (p.Thr58Met) rs780151569
NM_025137.4(SPG11):c.1743A>C (p.Glu581Asp) rs1276367363
NM_025137.4(SPG11):c.17G>C (p.Gly6Ala) rs1205261164
NM_025137.4(SPG11):c.1801C>G (p.Pro601Ala) rs775799559
NM_025137.4(SPG11):c.1801C>T (p.Pro601Ser) rs775799559
NM_025137.4(SPG11):c.1813C>A (p.His605Asn)
NM_025137.4(SPG11):c.1858A>G (p.Asn620Asp) rs2141044861
NM_025137.4(SPG11):c.1872G>C (p.Glu624Asp) rs2141044804
NM_025137.4(SPG11):c.1874T>C (p.Leu625Pro) rs1555456940
NM_025137.4(SPG11):c.1885A>T (p.Thr629Ser) rs2083988991
NM_025137.4(SPG11):c.1886C>T (p.Thr629Ile)
NM_025137.4(SPG11):c.1891+4A>C rs2141044751
NM_025137.4(SPG11):c.1892A>G (p.Glu631Gly)
NM_025137.4(SPG11):c.190C>G (p.Gln64Glu) rs1566838280
NM_025137.4(SPG11):c.1910A>C (p.Gln637Pro) rs2083975912
NM_025137.4(SPG11):c.1913A>G (p.Lys638Arg) rs772835480
NM_025137.4(SPG11):c.193G>A (p.Val65Met) rs999651004
NM_025137.4(SPG11):c.194T>G (p.Val65Gly)
NM_025137.4(SPG11):c.1970T>C (p.Phe657Ser) rs2141043523
NM_025137.4(SPG11):c.1973C>T (p.Pro658Leu) rs922368462
NM_025137.4(SPG11):c.1976G>C (p.Trp659Ser) rs2141043511
NM_025137.4(SPG11):c.1978A>C (p.Lys660Gln) rs2141043505
NM_025137.4(SPG11):c.1982T>C (p.Leu661Pro)
NM_025137.4(SPG11):c.1989T>A (p.Asp663Glu) rs1321387321
NM_025137.4(SPG11):c.19G>A (p.Val7Ile) rs774670657
NM_025137.4(SPG11):c.19G>T (p.Val7Phe) rs774670657
NM_025137.4(SPG11):c.1A>T (p.Met1Leu) rs2085195132
NM_025137.4(SPG11):c.2014G>A (p.Glu672Lys) rs2083972403
NM_025137.4(SPG11):c.2032A>G (p.Lys678Glu) rs959317901
NM_025137.4(SPG11):c.2034G>T (p.Lys678Asn) rs2083971691
NM_025137.4(SPG11):c.203T>C (p.Leu68Ser)
NM_025137.4(SPG11):c.2056C>T (p.Leu686Phe) rs1160045630
NM_025137.4(SPG11):c.2057T>C (p.Leu686Pro)
NM_025137.4(SPG11):c.2065G>A (p.Glu689Lys) rs2141043236
NM_025137.4(SPG11):c.2067+5G>A rs2141043201
NM_025137.4(SPG11):c.2069A>G (p.Glu690Gly)
NM_025137.4(SPG11):c.2081G>T (p.Ser694Ile)
NM_025137.4(SPG11):c.2086A>T (p.Ile696Phe)
NM_025137.4(SPG11):c.20T>C (p.Val7Ala) rs771083813
NM_025137.4(SPG11):c.2121C>A (p.Phe707Leu) rs1239554492
NM_025137.4(SPG11):c.2128A>G (p.Ile710Val) rs779467011
NM_025137.4(SPG11):c.2143G>T (p.Ala715Ser) rs2083900209
NM_025137.4(SPG11):c.2147A>G (p.Gln716Arg) rs2141037997
NM_025137.4(SPG11):c.2156A>G (p.Glu719Gly) rs2141037979
NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)
NM_025137.4(SPG11):c.2191G>A (p.Asp731Asn) rs1327322138
NM_025137.4(SPG11):c.2193C>G (p.Asp731Glu)
NM_025137.4(SPG11):c.2204A>G (p.Lys735Arg)
NM_025137.4(SPG11):c.2244+5G>A rs1330702477
NM_025137.4(SPG11):c.2246G>A (p.Gly749Glu)
NM_025137.4(SPG11):c.224G>T (p.Gly75Val) rs922561928
NM_025137.4(SPG11):c.2254G>T (p.Val752Leu) rs1277935331
NM_025137.4(SPG11):c.227G>A (p.Gly76Asp)
NM_025137.4(SPG11):c.2304A>G (p.Ile768Met) rs1555455851
NM_025137.4(SPG11):c.2313T>C (p.Phe771=)
NM_025137.4(SPG11):c.2314T>G (p.Leu772Val)
NM_025137.4(SPG11):c.2316+10G>C
NM_025137.4(SPG11):c.2316+3A>C rs2083787952
NM_025137.4(SPG11):c.2317G>C (p.Val773Leu) rs766696581
NM_025137.4(SPG11):c.2317G>T (p.Val773Phe) rs766696581
NM_025137.4(SPG11):c.232T>G (p.Cys78Gly) rs2141138095
NM_025137.4(SPG11):c.2332G>A (p.Glu778Lys) rs1231809811
NM_025137.4(SPG11):c.233G>T (p.Cys78Phe)
NM_025137.4(SPG11):c.2348C>T (p.Ser783Phe)
NM_025137.4(SPG11):c.2377G>T (p.Val793Leu) rs546601155
NM_025137.4(SPG11):c.2386G>C (p.Val796Leu)
NM_025137.4(SPG11):c.23C>A (p.Ala8Glu) rs200939573
NM_025137.4(SPG11):c.23C>T (p.Ala8Val) rs200939573
NM_025137.4(SPG11):c.2414A>C (p.Gln805Pro) rs2141028960
NM_025137.4(SPG11):c.2423T>C (p.Met808Thr) rs1020636809
NM_025137.4(SPG11):c.242A>G (p.Glu81Gly) rs1555383956
NM_025137.4(SPG11):c.2444+3A>T rs1287398920
NM_025137.4(SPG11):c.244G>A (p.Gly82Ser) rs774004835
NM_025137.4(SPG11):c.2483C>T (p.Ser828Phe) rs2141028113
NM_025137.4(SPG11):c.248C>G (p.Pro83Arg) rs1465468992
NM_025137.4(SPG11):c.2494T>G (p.Ser832Ala) rs2083762073
NM_025137.4(SPG11):c.2509G>T (p.Asp837Tyr)
NM_025137.4(SPG11):c.251T>G (p.Phe84Cys) rs2085177672
NM_025137.4(SPG11):c.2534A>G (p.Gln845Arg) rs1313372102
NM_025137.4(SPG11):c.2546T>C (p.Ile849Thr) rs779087194
NM_025137.4(SPG11):c.2581A>G (p.Thr861Ala) rs2083759221
NM_025137.4(SPG11):c.2586A>C (p.Gln862His) rs533427143
NM_025137.4(SPG11):c.258C>T (p.His86=)
NM_025137.4(SPG11):c.2606G>C (p.Arg869Thr)
NM_025137.4(SPG11):c.2621A>C (p.Glu874Ala) rs2083709845
NM_025137.4(SPG11):c.2627A>G (p.Lys876Arg)
NM_025137.4(SPG11):c.2630C>T (p.Ser877Leu)
NM_025137.4(SPG11):c.2638C>T (p.Pro880Ser)
NM_025137.4(SPG11):c.2669G>T (p.Arg890Leu) rs376143651
NM_025137.4(SPG11):c.2672A>G (p.His891Arg) rs1215566981
NM_025137.4(SPG11):c.2686A>G (p.Ile896Val)
NM_025137.4(SPG11):c.2686A>T (p.Ile896Phe) rs753479999
NM_025137.4(SPG11):c.2689A>G (p.Ile897Val) rs2083707431
NM_025137.4(SPG11):c.2698A>T (p.Ile900Phe) rs1239083839
NM_025137.4(SPG11):c.2710C>G (p.Gln904Glu) rs760517153
NM_025137.4(SPG11):c.2714C>A (p.Thr905Asn)
NM_025137.4(SPG11):c.2717A>C (p.Gln906Pro)
NM_025137.4(SPG11):c.271G>T (p.Asp91Tyr)
NM_025137.4(SPG11):c.2732C>T (p.Ser911Leu) rs2141024543
NM_025137.4(SPG11):c.2737CAG[1] (p.Gln914del) rs763096648
NM_025137.4(SPG11):c.2751G>T (p.Trp917Cys) rs2083705120
NM_025137.4(SPG11):c.275C>T (p.Ser92Phe) rs749964630
NM_025137.4(SPG11):c.277C>A (p.Arg93Ser)
NM_025137.4(SPG11):c.2781G>T (p.Gln927His) rs373088911
NM_025137.4(SPG11):c.278G>A (p.Arg93His) rs149254262
NM_025137.4(SPG11):c.278G>T (p.Arg93Leu)
NM_025137.4(SPG11):c.2808G>T (p.Arg936Ser) rs2083702773
NM_025137.4(SPG11):c.282C>G (p.Asn94Lys)
NM_025137.4(SPG11):c.2834+5_2834+7del rs759910630
NM_025137.4(SPG11):c.2851G>A (p.Ala951Thr) rs1431880035
NM_025137.4(SPG11):c.2857G>A (p.Glu953Lys) rs372906057
NM_025137.4(SPG11):c.2857G>C (p.Glu953Gln) rs372906057
NM_025137.4(SPG11):c.2885T>C (p.Leu962Pro) rs759969829
NM_025137.4(SPG11):c.2906G>A (p.Gly969Asp) rs2083570700
NM_025137.4(SPG11):c.2912T>G (p.Ile971Arg)
NM_025137.4(SPG11):c.2924T>C (p.Leu975Pro) rs758207568
NM_025137.4(SPG11):c.2933A>C (p.Gln978Pro) rs2083569563
NM_025137.4(SPG11):c.2934A>G (p.Gln978=) rs1595883979
NM_025137.4(SPG11):c.2938T>A (p.Tyr980Asn) rs1595883966
NM_025137.4(SPG11):c.2984A>G (p.Tyr995Cys)
NM_025137.4(SPG11):c.29C>G (p.Ala10Gly) rs750165094
NM_025137.4(SPG11):c.29C>T (p.Ala10Val) rs750165094
NM_025137.4(SPG11):c.3005A>C (p.Gln1002Pro) rs2141014746
NM_025137.4(SPG11):c.3017A>G (p.Tyr1006Cys) rs1374505304
NM_025137.4(SPG11):c.3023A>C (p.Tyr1008Ser) rs776158206
NM_025137.4(SPG11):c.3032G>A (p.Cys1011Tyr)
NM_025137.4(SPG11):c.3039-10T>G rs1567163243
NM_025137.4(SPG11):c.3059C>G (p.Pro1020Arg) rs2141011170
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile) rs1567163203
NM_025137.4(SPG11):c.3075A>T (p.Lys1025Asn)
NM_025137.4(SPG11):c.3077A>T (p.Glu1026Val) rs1567163181
NM_025137.4(SPG11):c.3092A>G (p.His1031Arg) rs2141011065
NM_025137.4(SPG11):c.3095C>G (p.Pro1032Arg) rs141106870
NM_025137.4(SPG11):c.3098G>T (p.Trp1033Leu) rs1595881991
NM_025137.4(SPG11):c.3122G>C (p.Arg1041Pro)
NM_025137.4(SPG11):c.3124C>G (p.Gln1042Glu)
NM_025137.4(SPG11):c.3145+3A>G rs755042849
NM_025137.4(SPG11):c.3146-5T>A
NM_025137.4(SPG11):c.3146A>T (p.Asp1049Val) rs2083444672
NM_025137.4(SPG11):c.3151A>G (p.Lys1051Glu) rs1595879028
NM_025137.4(SPG11):c.3184C>G (p.Gln1062Glu)
NM_025137.4(SPG11):c.3185A>C (p.Gln1062Pro) rs146520557
NM_025137.4(SPG11):c.3186G>C (p.Gln1062His) rs11070430
NM_025137.4(SPG11):c.3203A>G (p.Asn1068Ser) rs1439670067
NM_025137.4(SPG11):c.3208G>A (p.Ala1070Thr)
NM_025137.4(SPG11):c.3244C>G (p.Leu1082Val) rs1183035882
NM_025137.4(SPG11):c.3247C>A (p.Leu1083Met) rs1595878796
NM_025137.4(SPG11):c.3250G>A (p.Ala1084Thr)
NM_025137.4(SPG11):c.3262A>G (p.Thr1088Ala) rs1221018693
NM_025137.4(SPG11):c.3266T>G (p.Met1089Arg) rs1291491649
NM_025137.4(SPG11):c.3269A>G (p.Tyr1090Cys) rs2083441234
NM_025137.4(SPG11):c.3292G>T (p.Val1098Phe)
NM_025137.4(SPG11):c.3295G>A (p.Val1099Ile)
NM_025137.4(SPG11):c.331T>A (p.Tyr111Asn) rs2085074518
NM_025137.4(SPG11):c.3322T>G (p.Leu1108Val)
NM_025137.4(SPG11):c.332A>T (p.Tyr111Phe) rs2141130065
NM_025137.4(SPG11):c.3335A>G (p.Asp1112Gly) rs950287511
NM_025137.4(SPG11):c.3338C>A (p.Pro1113His) rs2083380998
NM_025137.4(SPG11):c.3374A>G (p.Lys1125Arg) rs1421555064
NM_025137.4(SPG11):c.3388C>G (p.Leu1130Val)
NM_025137.4(SPG11):c.3399G>T (p.Gln1133His) rs1051475016
NM_025137.4(SPG11):c.341T>C (p.Leu114Pro)
NM_025137.4(SPG11):c.3433A>G (p.Thr1145Ala) rs755490045
NM_025137.4(SPG11):c.3440A>G (p.Tyr1147Cys)
NM_025137.4(SPG11):c.3454-6T>C rs2140994495
NM_025137.4(SPG11):c.3457T>G (p.Leu1153Val) rs2140994487
NM_025137.4(SPG11):c.3458T>C (p.Leu1153Ser) rs2083311354
NM_025137.4(SPG11):c.3459A>C (p.Leu1153Phe)
NM_025137.4(SPG11):c.3461C>T (p.Ser1154Leu) rs2140994460
NM_025137.4(SPG11):c.3472C>G (p.Pro1158Ala) rs750011115
NM_025137.4(SPG11):c.347A>G (p.Tyr116Cys) rs1186964654
NM_025137.4(SPG11):c.3488G>T (p.Gly1163Val) rs376821867
NM_025137.4(SPG11):c.3492G>T (p.Trp1164Cys) rs2083310287
NM_025137.4(SPG11):c.34T>C (p.Ser12Pro) rs753871631
NM_025137.4(SPG11):c.3502A>G (p.Asn1168Asp) rs763749443
NM_025137.4(SPG11):c.3504C>A (p.Asn1168Lys) rs199712393
NM_025137.4(SPG11):c.3506C>T (p.Thr1169Ile) rs2083309611
NM_025137.4(SPG11):c.3508C>A (p.Leu1170Ile) rs534771304
NM_025137.4(SPG11):c.3516A>G (p.Ile1172Met)
NM_025137.4(SPG11):c.3522T>G (p.Asp1174Glu) rs777278944
NM_025137.4(SPG11):c.3538C>G (p.Pro1180Ala) rs747910594
NM_025137.4(SPG11):c.3542A>G (p.His1181Arg) rs912012668
NM_025137.4(SPG11):c.3548C>G (p.Ser1183Cys)
NM_025137.4(SPG11):c.3571T>A (p.Tyr1191Asn)
NM_025137.4(SPG11):c.3592A>G (p.Asn1198Asp) rs2083159214
NM_025137.4(SPG11):c.359T>G (p.Leu120Trp) rs764858234
NM_025137.4(SPG11):c.3609A>T (p.Leu1203Phe) rs1390671994
NM_025137.4(SPG11):c.3614A>G (p.Asn1205Ser)
NM_025137.4(SPG11):c.3614A>T (p.Asn1205Ile) rs1451774392
NM_025137.4(SPG11):c.3619C>T (p.Arg1207Trp) rs199986067
NM_025137.4(SPG11):c.362A>G (p.Lys121Arg)
NM_025137.4(SPG11):c.3646C>G (p.Leu1216Val) rs12902253
NM_025137.4(SPG11):c.3662T>C (p.Ile1221Thr) rs756274932
NM_025137.4(SPG11):c.3670A>C (p.Lys1224Gln) rs2140982065
NM_025137.4(SPG11):c.3677C>G (p.Pro1226Arg) rs1478064859
NM_025137.4(SPG11):c.3677C>T (p.Pro1226Leu) rs1478064859
NM_025137.4(SPG11):c.367G>A (p.Gly123Arg)
NM_025137.4(SPG11):c.3687-13_3687-9del rs766788316
NM_025137.4(SPG11):c.373T>C (p.Cys125Arg) rs2141129973
NM_025137.4(SPG11):c.3742C>A (p.Pro1248Thr) rs2140978285
NM_025137.4(SPG11):c.3748A>G (p.Ile1250Val) rs2140978260
NM_025137.4(SPG11):c.3778T>G (p.Leu1260Val) rs776154524
NM_025137.4(SPG11):c.3784G>T (p.Gly1262Cys) rs2083108639
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.3789_3797del (p.Asp1264_Leu1266del) rs2140978149
NM_025137.4(SPG11):c.380C>T (p.Ala127Val) rs2085073055
NM_025137.4(SPG11):c.3814A>C (p.Met1272Leu)
NM_025137.4(SPG11):c.3814A>G (p.Met1272Val) rs2083107613
NM_025137.4(SPG11):c.3816G>C (p.Met1272Ile)
NM_025137.4(SPG11):c.3818A>C (p.Lys1273Thr) rs76389165
NM_025137.4(SPG11):c.3824C>A (p.Ala1275Asp)
NM_025137.4(SPG11):c.3839G>C (p.Ser1280Thr)
NM_025137.4(SPG11):c.3853A>G (p.Asn1285Asp) rs1422320754
NM_025137.4(SPG11):c.3880A>G (p.Arg1294Gly) rs1595863721
NM_025137.4(SPG11):c.3889G>T (p.Val1297Leu)
NM_025137.4(SPG11):c.3892+14T>C
NM_025137.4(SPG11):c.3892+3dup rs1265100911
NM_025137.4(SPG11):c.3892+7C>T
NM_025137.4(SPG11):c.3893-8T>A
NM_025137.4(SPG11):c.3893C>G (p.Ala1298Gly)
NM_025137.4(SPG11):c.3901C>A (p.Leu1301Ile) rs2140977252
NM_025137.4(SPG11):c.3905C>T (p.Ser1302Phe)
NM_025137.4(SPG11):c.3914C>G (p.Ala1305Gly) rs746116309
NM_025137.4(SPG11):c.3922G>A (p.Glu1308Lys) rs779198786
NM_025137.4(SPG11):c.3938A>T (p.Glu1313Val) rs1567150790
NM_025137.4(SPG11):c.3967A>C (p.Thr1323Pro)
NM_025137.4(SPG11):c.3976A>G (p.Ser1326Gly)
NM_025137.4(SPG11):c.3986A>G (p.Gln1329Arg) rs2140976920
NM_025137.4(SPG11):c.4012G>C (p.Glu1338Gln) rs1555451163
NM_025137.4(SPG11):c.4045T>A (p.Phe1349Ile)
NM_025137.4(SPG11):c.4063A>G (p.Met1355Val) rs2140973745
NM_025137.4(SPG11):c.4075A>G (p.Ile1359Val)
NM_025137.4(SPG11):c.4082A>C (p.Tyr1361Ser)
NM_025137.4(SPG11):c.4096G>A (p.Ala1366Thr) rs1197681500
NM_025137.4(SPG11):c.4097C>G (p.Ala1366Gly) rs774455763
NM_025137.4(SPG11):c.409G>A (p.Ala137Thr) rs1218211158
NM_025137.4(SPG11):c.4122C>G (p.Phe1374Leu) rs1194478318
NM_025137.4(SPG11):c.4137A>T (p.Gln1379His) rs748617459
NM_025137.4(SPG11):c.415C>G (p.Gln139Glu)
NM_025137.4(SPG11):c.4187G>T (p.Ser1396Ile) rs1390507027
NM_025137.4(SPG11):c.4190C>T (p.Pro1397Leu) rs1595860601
NM_025137.4(SPG11):c.4198C>A (p.Gln1400Lys)
NM_025137.4(SPG11):c.4204C>A (p.His1402Asn) rs756973532
NM_025137.4(SPG11):c.4227C>G (p.Asn1409Lys) rs1377515652
NM_025137.4(SPG11):c.4232C>T (p.Pro1411Leu) rs2140972200
NM_025137.4(SPG11):c.4304A>G (p.Lys1435Arg) rs2083034008
NM_025137.4(SPG11):c.430G>A (p.Asp144Asn)
NM_025137.4(SPG11):c.430G>T (p.Asp144Tyr) rs747312770
NM_025137.4(SPG11):c.4319A>T (p.Asp1440Val) rs2140971917
NM_025137.4(SPG11):c.4325T>C (p.Phe1442Ser) rs2140971902
NM_025137.4(SPG11):c.4327G>A (p.Glu1443Lys) rs1338577311
NM_025137.4(SPG11):c.434A>G (p.Gln145Arg) rs780634621
NM_025137.4(SPG11):c.435A>C (p.Gln145His)
NM_025137.4(SPG11):c.437A>C (p.Asp146Ala) rs182535774
NM_025137.4(SPG11):c.4384G>A (p.Ala1462Thr) rs2140971741
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.440T>C (p.Ile147Thr) rs547491883
NM_025137.4(SPG11):c.440T>G (p.Ile147Ser) rs547491883
NM_025137.4(SPG11):c.4417C>G (p.Leu1473Val) rs2140971629
NM_025137.4(SPG11):c.4418T>G (p.Leu1473Arg)
NM_025137.4(SPG11):c.442+5G>A rs752482400
NM_025137.4(SPG11):c.4421C>T (p.Ala1474Val)
NM_025137.4(SPG11):c.4434+3G>A
NM_025137.4(SPG11):c.4435-3C>T rs1555450826
NM_025137.4(SPG11):c.4436G>A (p.Gly1479Asp) rs374303102
NM_025137.4(SPG11):c.4436G>T (p.Gly1479Val)
NM_025137.4(SPG11):c.4455T>G (p.Cys1485Trp) rs2083010716
NM_025137.4(SPG11):c.4456C>A (p.Leu1486Ile) rs2083010648
NM_025137.4(SPG11):c.446T>A (p.Ile149Asn) rs1595938156
NM_025137.4(SPG11):c.4487A>T (p.Asp1496Val) rs2140970008
NM_025137.4(SPG11):c.4498A>T (p.Thr1500Ser) rs758867131
NM_025137.4(SPG11):c.449C>T (p.Ser150Phe) rs2085034168
NM_025137.4(SPG11):c.4507A>G (p.Met1503Val)
NM_025137.4(SPG11):c.4520A>G (p.Gln1507Arg) rs1267260382
NM_025137.4(SPG11):c.4549C>G (p.Leu1517Val) rs942704467
NM_025137.4(SPG11):c.454T>A (p.Leu152Met)
NM_025137.4(SPG11):c.458C>T (p.Ser153Phe)
NM_025137.4(SPG11):c.4592A>C (p.Gln1531Pro) rs2140969699
NM_025137.4(SPG11):c.4599C>G (p.Ser1533Arg) rs758762845
NM_025137.4(SPG11):c.4625T>G (p.Leu1542Arg) rs2083005246
NM_025137.4(SPG11):c.4636-3A>G rs1433545924
NM_025137.4(SPG11):c.4637_4638insATC (p.Asp1546delinsGluSer) rs1595855150
NM_025137.4(SPG11):c.4651C>A (p.Leu1551Met) rs1595855125
NM_025137.4(SPG11):c.4659G>A (p.Met1553Ile)
NM_025137.4(SPG11):c.4661A>C (p.Glu1554Ala) rs2082925039
NM_025137.4(SPG11):c.4664T>C (p.Met1555Thr) rs2140963348
NM_025137.4(SPG11):c.4675T>C (p.Cys1559Arg)
NM_025137.4(SPG11):c.4675T>G (p.Cys1559Gly) rs757658545
NM_025137.4(SPG11):c.4680G>A (p.Met1560Ile) rs1281792255
NM_025137.4(SPG11):c.4708G>C (p.Ala1570Pro) rs2082922918
NM_025137.4(SPG11):c.4717C>G (p.Leu1573Val) rs560868702
NM_025137.4(SPG11):c.4718T>C (p.Leu1573Pro)
NM_025137.4(SPG11):c.4753_4761del (p.Ala1585_Thr1587del) rs2082846485
NM_025137.4(SPG11):c.4756G>A (p.Ala1586Thr)
NM_025137.4(SPG11):c.4780C>G (p.Pro1594Ala) rs771186100
NM_025137.4(SPG11):c.4804G>A (p.Val1602Met) rs754536969
NM_025137.4(SPG11):c.4804G>T (p.Val1602Leu) rs754536969
NM_025137.4(SPG11):c.4805T>A (p.Val1602Glu) rs1452836790
NM_025137.4(SPG11):c.4814T>G (p.Leu1605Arg) rs1260241430
NM_025137.4(SPG11):c.4820A>G (p.Lys1607Arg) rs2082844140
NM_025137.4(SPG11):c.4826T>C (p.Met1609Thr) rs2140956945
NM_025137.4(SPG11):c.4837T>G (p.Cys1613Gly)
NM_025137.4(SPG11):c.4888G>C (p.Glu1630Gln) rs368276916
NM_025137.4(SPG11):c.4904A>G (p.Asp1635Gly)
NM_025137.4(SPG11):c.4915G>A (p.Val1639Met)
NM_025137.4(SPG11):c.4930A>G (p.Ile1644Val) rs1240092659
NM_025137.4(SPG11):c.4955C>A (p.Thr1652Lys)
NM_025137.4(SPG11):c.4973A>G (p.His1658Arg)
NM_025137.4(SPG11):c.4982T>C (p.Ile1661Thr)
NM_025137.4(SPG11):c.4985C>A (p.Thr1662Asn)
NM_025137.4(SPG11):c.4G>A (p.Ala2Thr) rs1566838999
NM_025137.4(SPG11):c.5001G>T (p.Glu1667Asp) rs1595845664
NM_025137.4(SPG11):c.5017T>C (p.Cys1673Arg)
NM_025137.4(SPG11):c.501C>G (p.Phe167Leu) rs771462279
NM_025137.4(SPG11):c.5032G>A (p.Glu1678Lys)
NM_025137.4(SPG11):c.5055A>T (p.Gln1685His)
NM_025137.4(SPG11):c.5086G>A (p.Ala1696Thr) rs2140949961
NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys) rs762524521
NM_025137.4(SPG11):c.5110G>A (p.Val1704Ile) rs931856984
NM_025137.4(SPG11):c.5110G>T (p.Val1704Phe) rs931856984
NM_025137.4(SPG11):c.5135T>G (p.Met1712Arg) rs1555448989
NM_025137.4(SPG11):c.5136G>A (p.Met1712Ile)
NM_025137.4(SPG11):c.5150A>G (p.His1717Arg)
NM_025137.4(SPG11):c.5177C>G (p.Ala1726Gly) rs1252919994
NM_025137.4(SPG11):c.5208G>T (p.Glu1736Asp) rs2082717835
NM_025137.4(SPG11):c.5211T>A (p.Asn1737Lys) rs1024346199
NM_025137.4(SPG11):c.5215A>C (p.Lys1739Gln)
NM_025137.4(SPG11):c.5227A>G (p.Ile1743Val) rs1419267108
NM_025137.4(SPG11):c.5234G>A (p.Ser1745Asn)
NM_025137.4(SPG11):c.5243C>G (p.Ala1748Gly) rs2082716750
NM_025137.4(SPG11):c.5246C>T (p.Ser1749Phe) rs1555448970
NM_025137.4(SPG11):c.524A>G (p.His175Arg) rs895170417
NM_025137.4(SPG11):c.5256C>G (p.Phe1752Leu) rs2140947410
NM_025137.4(SPG11):c.5266G>A (p.Ala1756Thr)
NM_025137.4(SPG11):c.527T>C (p.Ile176Thr) rs2085031500
NM_025137.4(SPG11):c.5294G>A (p.Gly1765Glu)
NM_025137.4(SPG11):c.529A>G (p.Ile177Val)
NM_025137.4(SPG11):c.5303G>A (p.Ser1768Asn)
NM_025137.4(SPG11):c.5305_5316del (p.Met1769_Arg1772del) rs2140947284
NM_025137.4(SPG11):c.530T>C (p.Ile177Thr)
NM_025137.4(SPG11):c.5314C>T (p.Arg1772Cys)
NM_025137.4(SPG11):c.5326C>T (p.Leu1776Phe)
NM_025137.4(SPG11):c.5330C>G (p.Thr1777Ser)
NM_025137.4(SPG11):c.5354A>C (p.Gln1785Pro) rs1050403502
NM_025137.4(SPG11):c.5386_5394del (p.Glu1796_Glu1798del) rs765129142
NM_025137.4(SPG11):c.5386_5394dup (p.Glu1798_Lys1799insGluLeuGlu)
NM_025137.4(SPG11):c.5397G>T (p.Lys1799Asn)
NM_025137.4(SPG11):c.5413C>T (p.Arg1805Cys)
NM_025137.4(SPG11):c.5414G>C (p.Arg1805Pro)
NM_025137.4(SPG11):c.5426A>G (p.His1809Arg) rs1555448900
NM_025137.4(SPG11):c.5428A>T (p.Thr1810Ser) rs1404988525
NM_025137.4(SPG11):c.5432T>C (p.Leu1811Pro)
NM_025137.4(SPG11):c.5437A>G (p.Arg1813Gly) rs1595843157
NM_025137.4(SPG11):c.5450A>G (p.Glu1817Gly) rs2082711302
NM_025137.4(SPG11):c.545A>C (p.Asp182Ala) rs143636318
NM_025137.4(SPG11):c.545A>T (p.Asp182Val)
NM_025137.4(SPG11):c.5462G>A (p.Arg1821Lys) rs777449266
NM_025137.4(SPG11):c.5476A>G (p.Ile1826Val) rs1251056690
NM_025137.4(SPG11):c.5482A>G (p.Thr1828Ala) rs2082710576
NM_025137.4(SPG11):c.5489G>C (p.Gly1830Ala) rs529748787
NM_025137.4(SPG11):c.5492A>G (p.Glu1831Gly) rs2140946907
NM_025137.4(SPG11):c.5497T>C (p.Ser1833Pro) rs766375553
NM_025137.4(SPG11):c.5497T>G (p.Ser1833Ala) rs766375553
NM_025137.4(SPG11):c.5512G>C (p.Ala1838Pro) rs761774708
NM_025137.4(SPG11):c.5537T>C (p.Leu1846Ser) rs760831525
NM_025137.4(SPG11):c.5551A>C (p.Thr1851Pro)
NM_025137.4(SPG11):c.5557A>G (p.Lys1853Glu)
NM_025137.4(SPG11):c.5566G>C (p.Glu1856Gln)
NM_025137.4(SPG11):c.5570T>G (p.Leu1857Arg) rs1425480106
NM_025137.4(SPG11):c.5571_5572insTCT (p.Leu1857_Asn1858insSer) rs1185237931
NM_025137.4(SPG11):c.5596T>C (p.Cys1866Arg)
NM_025137.4(SPG11):c.560T>C (p.Val187Ala) rs2085030329
NM_025137.4(SPG11):c.5615G>C (p.Trp1872Ser) rs1567138385
NM_025137.4(SPG11):c.5618A>G (p.Lys1873Arg)
NM_025137.4(SPG11):c.5630C>T (p.Ser1877Leu)
NM_025137.4(SPG11):c.5644A>T (p.Ile1882Phe) rs200645188
NM_025137.4(SPG11):c.5645T>G (p.Ile1882Ser)
NM_025137.4(SPG11):c.5651G>A (p.Arg1884His) rs767776590
NM_025137.4(SPG11):c.5689G>A (p.Val1897Ile)
NM_025137.4(SPG11):c.5719G>A (p.Asp1907Asn)
NM_025137.4(SPG11):c.5735T>G (p.Leu1912Trp)
NM_025137.4(SPG11):c.5738A>G (p.His1913Arg) rs2082704823
NM_025137.4(SPG11):c.5747C>T (p.Ala1916Val) rs2140946431
NM_025137.4(SPG11):c.5755T>A (p.Ser1919Thr)
NM_025137.4(SPG11):c.5756C>T (p.Ser1919Leu) rs1555448839
NM_025137.4(SPG11):c.5759G>A (p.Gly1920Glu) rs1445593607
NM_025137.4(SPG11):c.5775G>C (p.Glu1925Asp) rs1567138139
NM_025137.4(SPG11):c.5803C>G (p.Leu1935Val) rs746663514
NM_025137.4(SPG11):c.5827G>A (p.Glu1943Lys)
NM_025137.4(SPG11):c.5839G>T (p.Asp1947Tyr) rs751801619
NM_025137.4(SPG11):c.5861A>C (p.His1954Pro) rs954248015
NM_025137.4(SPG11):c.5861A>G (p.His1954Arg) rs954248015
NM_025137.4(SPG11):c.5864G>A (p.Ser1955Asn)
NM_025137.4(SPG11):c.5866+5G>A rs1256036525
NM_025137.4(SPG11):c.5866+5G>C rs1256036525
NM_025137.4(SPG11):c.5878G>A (p.Asp1960Asn) rs761271386
NM_025137.4(SPG11):c.5881A>G (p.Ser1961Gly)
NM_025137.4(SPG11):c.5911A>G (p.Asn1971Asp)
NM_025137.4(SPG11):c.5918T>C (p.Val1973Ala) rs2082504085
NM_025137.4(SPG11):c.5946C>G (p.Ser1982Arg) rs1567132752
NM_025137.4(SPG11):c.5948A>G (p.Lys1983Arg)
NM_025137.4(SPG11):c.5948A>T (p.Lys1983Ile)
NM_025137.4(SPG11):c.5959G>C (p.Gly1987Arg) rs2140931439
NM_025137.4(SPG11):c.5966ACT[1] (p.Tyr1990del) rs2140931403
NM_025137.4(SPG11):c.5980G>T (p.Val1994Phe)
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.59C>A (p.Ala20Glu)
NM_025137.4(SPG11):c.59C>T (p.Ala20Val) rs1453437368
NM_025137.4(SPG11):c.6006+4T>C rs2140931302
NM_025137.4(SPG11):c.6007-3C>G rs1410926036
NM_025137.4(SPG11):c.6014G>C (p.Gly2005Ala) rs2140929215
NM_025137.4(SPG11):c.6016T>G (p.Cys2006Gly) rs2082475892
NM_025137.4(SPG11):c.6038C>T (p.Ala2013Val) rs745997529
NM_025137.4(SPG11):c.6056T>C (p.Met2019Thr) rs1268897921
NM_025137.4(SPG11):c.606G>C (p.Met202Ile) rs1555383185
NM_025137.4(SPG11):c.6092G>C (p.Arg2031Pro) rs1365555358
NM_025137.4(SPG11):c.6098A>G (p.Lys2033Arg)
NM_025137.4(SPG11):c.6121A>G (p.Thr2041Ala)
NM_025137.4(SPG11):c.6122C>T (p.Thr2041Ile)
NM_025137.4(SPG11):c.6142A>G (p.Thr2048Ala) rs2082471967
NM_025137.4(SPG11):c.6157G>C (p.Val2053Leu)
NM_025137.4(SPG11):c.6158T>G (p.Val2053Gly) rs2140928866
NM_025137.4(SPG11):c.6175C>G (p.Arg2059Gly) rs755438310
NM_025137.4(SPG11):c.6176G>T (p.Arg2059Leu) rs757619567
NM_025137.4(SPG11):c.6187A>G (p.Thr2063Ala)
NM_025137.4(SPG11):c.6200G>A (p.Gly2067Glu) rs1339436003
NM_025137.4(SPG11):c.6201A>T (p.Gly2067=) rs764991726
NM_025137.4(SPG11):c.6205+6C>T rs1595828225
NM_025137.4(SPG11):c.6219G>A (p.Met2073Ile) rs778428857
NM_025137.4(SPG11):c.6223_6224insGAA (p.Phe2074_Asn2075insArg) rs773225085
NM_025137.4(SPG11):c.6224A>C (p.Asn2075Thr) rs140824939
NM_025137.4(SPG11):c.622C>T (p.Leu208Phe)
NM_025137.4(SPG11):c.6233A>C (p.Glu2078Ala) rs1302238562
NM_025137.4(SPG11):c.6263C>T (p.Thr2088Ile) rs1283621415
NM_025137.4(SPG11):c.6281C>G (p.Thr2094Arg)
NM_025137.4(SPG11):c.6289G>A (p.Gly2097Ser)
NM_025137.4(SPG11):c.6291C>T (p.Gly2097=)
NM_025137.4(SPG11):c.6293T>C (p.Met2098Thr) rs2082448645
NM_025137.4(SPG11):c.6299T>C (p.Leu2100Ser)
NM_025137.4(SPG11):c.62C>G (p.Ala21Gly) rs1178130732
NM_025137.4(SPG11):c.6301T>G (p.Leu2101Val)
NM_025137.4(SPG11):c.6305A>T (p.Asp2102Val) rs531345715
NM_025137.4(SPG11):c.6308A>G (p.Lys2103Arg) rs1555447440
NM_025137.4(SPG11):c.6327T>A (p.His2109Gln) rs754787719
NM_025137.4(SPG11):c.6347C>G (p.Thr2116Arg) rs751929116
NM_025137.4(SPG11):c.6359T>C (p.Ile2120Thr) rs1236437265
NM_025137.4(SPG11):c.6367C>T (p.His2123Tyr) rs1567129561
NM_025137.4(SPG11):c.637C>A (p.Leu213Ile)
NM_025137.4(SPG11):c.6382C>G (p.Leu2128Val) rs1302560163
NM_025137.4(SPG11):c.6391C>A (p.His2131Asn) rs775209503
NM_025137.4(SPG11):c.6391C>T (p.His2131Tyr)
NM_025137.4(SPG11):c.6401G>T (p.Gly2134Val)
NM_025137.4(SPG11):c.6406A>C (p.Ile2136Leu)
NM_025137.4(SPG11):c.641T>G (p.Phe214Cys) rs2141126013
NM_025137.4(SPG11):c.6421G>A (p.Ala2141Thr)
NM_025137.4(SPG11):c.6424G>T (p.Ala2142Ser)
NM_025137.4(SPG11):c.6443A>C (p.Asn2148Thr)
NM_025137.4(SPG11):c.6448C>G (p.Leu2150Val) rs1403957064
NM_025137.4(SPG11):c.6460G>A (p.Glu2154Lys)
NM_025137.4(SPG11):c.6461A>G (p.Glu2154Gly) rs771827244
NM_025137.4(SPG11):c.6467A>G (p.Tyr2156Cys)
NM_025137.4(SPG11):c.6477+4A>G rs312262780
NM_025137.4(SPG11):c.6477+5G>A
NM_025137.4(SPG11):c.6477+5G>C
NM_025137.4(SPG11):c.6477+6_6477+8del rs748324376
NM_025137.4(SPG11):c.6477G>A (p.Val2159=)
NM_025137.4(SPG11):c.6482G>A (p.Arg2161Gln)
NM_025137.4(SPG11):c.6484C>A (p.Leu2162Ile) rs770769595
NM_025137.4(SPG11):c.6491C>T (p.Thr2164Ile) rs1362623682
NM_025137.4(SPG11):c.6508_6510del (p.Asn2170del) rs757237014
NM_025137.4(SPG11):c.6510C>G (p.Asn2170Lys)
NM_025137.4(SPG11):c.6523A>C (p.Ile2175Leu) rs1567128530
NM_025137.4(SPG11):c.6548ACT[1] (p.Tyr2184del)
NM_025137.4(SPG11):c.6554T>C (p.Phe2185Ser) rs2140920863
NM_025137.4(SPG11):c.6590G>C (p.Gly2197Ala)
NM_025137.4(SPG11):c.6596T>C (p.Leu2199Pro)
NM_025137.4(SPG11):c.65T>C (p.Met22Thr) rs779434840
NM_025137.4(SPG11):c.6602C>T (p.Thr2201Ile) rs2140917223
NM_025137.4(SPG11):c.6607C>G (p.Leu2203Val)
NM_025137.4(SPG11):c.6610C>A (p.Leu2204Met)
NM_025137.4(SPG11):c.6631C>A (p.Arg2211Ser) rs148260507
NM_025137.4(SPG11):c.6656A>G (p.Asn2219Ser)
NM_025137.4(SPG11):c.6656A>T (p.Asn2219Ile)
NM_025137.4(SPG11):c.6667C>A (p.Leu2223Met) rs2140917102
NM_025137.4(SPG11):c.6677G>T (p.Ser2226Ile) rs2082334964
NM_025137.4(SPG11):c.668-10_668-9insTTA rs1595935403
NM_025137.4(SPG11):c.6681G>A (p.Met2227Ile)
NM_025137.4(SPG11):c.6692T>C (p.Ile2231Thr) rs1363230897
NM_025137.4(SPG11):c.6706G>C (p.Glu2236Gln)
NM_025137.4(SPG11):c.6709G>A (p.Ala2237Thr)
NM_025137.4(SPG11):c.670A>G (p.Ile224Val) rs2084969218
NM_025137.4(SPG11):c.6725A>C (p.Gln2242Pro) rs2140916949
NM_025137.4(SPG11):c.6743C>G (p.Ser2248Cys) rs1567127087
NM_025137.4(SPG11):c.6751T>C (p.Trp2251Arg)
NM_025137.4(SPG11):c.6754+3_6754+4delinsAG rs2140916862
NM_025137.4(SPG11):c.6755-16_6755-14del
NM_025137.4(SPG11):c.6755-3C>G rs1177654504
NM_025137.4(SPG11):c.6758A>G (p.Asp2253Gly) rs761230564
NM_025137.4(SPG11):c.676G>C (p.Asp226His) rs971078676
NM_025137.4(SPG11):c.676G>T (p.Asp226Tyr)
NM_025137.4(SPG11):c.6775C>G (p.His2259Asp) rs2082307117
NM_025137.4(SPG11):c.6780G>C (p.Gln2260His) rs770643416
NM_025137.4(SPG11):c.6784A>G (p.Lys2262Glu) rs2140914382
NM_025137.4(SPG11):c.6788_6789delinsTG (p.Gln2263Leu)
NM_025137.4(SPG11):c.6803C>T (p.Ala2268Val) rs2082306504
NM_025137.4(SPG11):c.6844G>A (p.Asp2282Asn)
NM_025137.4(SPG11):c.6857G>C (p.Arg2286Pro)
NM_025137.4(SPG11):c.6867G>T (p.Gln2289His)
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del) rs1060501169
NM_025137.4(SPG11):c.6887A>C (p.Lys2296Thr) rs889145962
NM_025137.4(SPG11):c.6896C>A (p.Thr2299Asn) rs780006264
NM_025137.4(SPG11):c.6896C>T (p.Thr2299Ile)
NM_025137.4(SPG11):c.6907C>T (p.His2303Tyr) rs777915558
NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu) rs146914461
NM_025137.4(SPG11):c.6927G>C (p.Gln2309His) rs1555446429
NM_025137.4(SPG11):c.6928A>C (p.Asn2310His) rs2140913625
NM_025137.4(SPG11):c.6934A>G (p.Met2312Val) rs892306308
NM_025137.4(SPG11):c.6945C>G (p.Asn2315Lys) rs1322340631
NM_025137.4(SPG11):c.6965T>C (p.Met2322Thr) rs2082297271
NM_025137.4(SPG11):c.6977T>C (p.Leu2326Pro) rs2082296961
NM_025137.4(SPG11):c.6985C>T (p.Pro2329Ser) rs1399660300
NM_025137.4(SPG11):c.6999+3G>A
NM_025137.4(SPG11):c.7000-8_7000-4del
NM_025137.4(SPG11):c.7006A>C (p.Ile2336Leu)
NM_025137.4(SPG11):c.7006A>G (p.Ile2336Val)
NM_025137.4(SPG11):c.7018G>A (p.Ala2340Thr)
NM_025137.4(SPG11):c.7018G>T (p.Ala2340Ser) rs1375685761
NM_025137.4(SPG11):c.7024G>A (p.Asp2342Asn) rs529842519
NM_025137.4(SPG11):c.7024G>T (p.Asp2342Tyr) rs529842519
NM_025137.4(SPG11):c.7040G>C (p.Trp2347Ser)
NM_025137.4(SPG11):c.7048A>G (p.Ile2350Val) rs780550991
NM_025137.4(SPG11):c.704A>G (p.His235Arg)
NM_025137.4(SPG11):c.7079A>C (p.Asp2360Ala) rs373463137
NM_025137.4(SPG11):c.70C>G (p.Arg24Gly)
NM_025137.4(SPG11):c.7112G>A (p.Arg2371Lys) rs1595815301
NM_025137.4(SPG11):c.7142T>C (p.Ile2381Thr) rs2082271089
NM_025137.4(SPG11):c.7145C>A (p.Ser2382Tyr) rs1595815245
NM_025137.4(SPG11):c.7151+6T>C
NM_025137.4(SPG11):c.7153T>C (p.Tyr2385His) rs1386550783
NM_025137.4(SPG11):c.7162C>A (p.His2388Asn) rs1567123486
NM_025137.4(SPG11):c.7169dup (p.Thr2391fs) rs2140908233
NM_025137.4(SPG11):c.7187_7211dup (p.Tyr2404Ter) rs1595812586
NM_025137.4(SPG11):c.71G>A (p.Arg24Gln) rs1239788614
NM_025137.4(SPG11):c.7201_7218del (p.Leu2401_Glu2406del) rs1490325672
NM_025137.4(SPG11):c.7203dup (p.Leu2402fs)
NM_025137.4(SPG11):c.722A>T (p.His241Leu) rs993836774
NM_025137.4(SPG11):c.7231T>A (p.Tyr2411Asn)
NM_025137.4(SPG11):c.7237A>G (p.Lys2413Glu)
NM_025137.4(SPG11):c.7244C>A (p.Ala2415Glu) rs1060501177
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter) rs371313584
NM_025137.4(SPG11):c.7249_7251delinsCTGTT (p.Glu2417fs) rs864622190
NM_025137.4(SPG11):c.7253A>G (p.His2418Arg) rs1555445707
NM_025137.4(SPG11):c.7255_7258dup (p.Phe2420Ter)
NM_025137.4(SPG11):c.7258T>C (p.Phe2420Leu) rs779900397
NM_025137.4(SPG11):c.7266A>C (p.Glu2422Asp) rs1229173974
NM_025137.4(SPG11):c.7268T>G (p.Ile2423Ser)
NM_025137.4(SPG11):c.726A>C (p.Lys242Asn) rs1369058889
NM_025137.4(SPG11):c.7276G>A (p.Val2426Met) rs1358019293
NM_025137.4(SPG11):c.7292dup (p.Gln2432fs) rs2140907988
NM_025137.4(SPG11):c.7300G>A (p.Gly2434Ser) rs2082228032
NM_025137.4(SPG11):c.7301G>C (p.Gly2434Ala) rs755064786
NM_025137.4(SPG11):c.7313A>G (p.Lys2438Arg) rs766552088
NM_025137.4(SPG11):c.7318A>C (p.Met2440Leu) rs1595812352
NM_025137.4(SPG11):c.7324G>A (p.Ala2442Thr) rs765644977
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977
NM_025137.4(SPG11):c.7325C>T (p.Ala2442Val) rs762374689
NM_025137.4(SPG11):c.733A>C (p.Met245Leu)
NM_025137.4(SPG11):c.734T>G (p.Met245Arg)
NM_025137.4(SPG11):c.739A>G (p.Asn247Asp) rs1483558811
NM_025137.4(SPG11):c.76C>G (p.Leu26Val)
NM_025137.4(SPG11):c.772T>C (p.Ser258Pro) rs1555382900
NM_025137.4(SPG11):c.7G>A (p.Ala3Thr) rs1450340724
NM_025137.4(SPG11):c.817A>G (p.Ile273Val)
NM_025137.4(SPG11):c.819T>G (p.Ile273Met) rs1232225260
NM_025137.4(SPG11):c.821T>C (p.Val274Ala) rs1050146375
NM_025137.4(SPG11):c.824G>A (p.Ser275Asn) rs769608648
NM_025137.4(SPG11):c.827C>G (p.Ser276Cys) rs1595935078
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile) rs75309308
NM_025137.4(SPG11):c.857A>G (p.Asn286Ser) rs2084961885
NM_025137.4(SPG11):c.861G>T (p.Leu287Phe)
NM_025137.4(SPG11):c.869+3A>G
NM_025137.4(SPG11):c.877C>T (p.Pro293Ser) rs919363085
NM_025137.4(SPG11):c.881G>T (p.Gly294Val)
NM_025137.4(SPG11):c.889C>G (p.Leu297Val) rs751101312
NM_025137.4(SPG11):c.896A>G (p.Glu299Gly)
NM_025137.4(SPG11):c.8C>T (p.Ala3Val)
NM_025137.4(SPG11):c.902T>A (p.Ile301Lys) rs1032246775
NM_025137.4(SPG11):c.902T>C (p.Ile301Thr) rs1032246775
NM_025137.4(SPG11):c.916C>T (p.Pro306Ser) rs776413713
NM_025137.4(SPG11):c.929C>T (p.Pro310Leu)
NM_025137.4(SPG11):c.935G>T (p.Gly312Val)
NM_025137.4(SPG11):c.949G>A (p.Asp317Asn) rs773433816
NM_025137.4(SPG11):c.959A>G (p.Asn320Ser) rs2084802198
NM_025137.4(SPG11):c.962C>G (p.Ser321Cys) rs2141108155
NM_025137.4(SPG11):c.965C>T (p.Ala322Val)
NM_025137.4(SPG11):c.970A>C (p.Asn324His) rs997623054
NM_025137.4(SPG11):c.986A>G (p.Lys329Arg) rs2084801193
NM_025137.4(SPG11):c.98T>C (p.Val33Ala) rs1555384018
NM_025137.4(SPG11):c.992C>T (p.Ser331Phe)
NM_031448.6(C19orf12):c.-11+197T>G
NM_031448.6(C19orf12):c.-11+199G>A
NM_031448.6(C19orf12):c.-11+214C>T
NM_031448.6(C19orf12):c.10A>G (p.Met4Val)
NM_031448.6(C19orf12):c.128G>C (p.Gly43Ala)
NM_031448.6(C19orf12):c.147G>A (p.Pro49=)
NM_031448.6(C19orf12):c.154G>A (p.Ala52Thr) rs376103979
NM_031448.6(C19orf12):c.157G>A (p.Val53Ile)
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala) rs752450983
NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg) rs1972192000
NM_031448.6(C19orf12):c.1A>G (p.Met1Val)
NM_031448.6(C19orf12):c.204A>T (p.Gly68=) rs1555714878
NM_031448.6(C19orf12):c.211_212dup (p.Pro72fs) rs1972186898
NM_031448.6(C19orf12):c.215C>A (p.Pro72Gln)
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp) rs1972180871
NM_031448.6(C19orf12):c.270C>G (p.Asn90Lys)
NM_031448.6(C19orf12):c.270del (p.Asn90fs) rs1555714836
NM_031448.6(C19orf12):c.277G>T (p.Ala93Ser)
NM_031448.6(C19orf12):c.279del (p.Ala94fs) rs2145622361
NM_031448.6(C19orf12):c.282dup (p.Ile95fs) rs1555714827
NM_031448.6(C19orf12):c.286A>G (p.Ile96Val)
NM_031448.6(C19orf12):c.294C>G (p.His98Gln) rs2145622256
NM_031448.6(C19orf12):c.2T>C (p.Met1Thr) rs764309455
NM_031448.6(C19orf12):c.304A>T (p.Thr102Ser)
NM_031448.6(C19orf12):c.334A>G (p.Met112Val)
NM_031448.6(C19orf12):c.347C>A (p.Ala116Asp)
NM_031448.6(C19orf12):c.356A>G (p.Gln119Arg)
NM_031448.6(C19orf12):c.394G>C (p.Glu132Gln)
NM_031448.6(C19orf12):c.406G>A (p.Glu136Lys)
NM_031448.6(C19orf12):c.412C>A (p.Gln138Lys)
NM_031448.6(C19orf12):c.4A>G (p.Thr2Ala) rs2145640278
NM_031448.6(C19orf12):c.57del (p.Lys20fs)
NM_031448.6(C19orf12):c.68C>A (p.Ala23Glu) rs544395324
NM_031448.6(C19orf12):c.7A>G (p.Ile3Val)
NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu) rs2285269
NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr) rs1554498242
NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu) rs773370398
NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr)
NM_152415.3(VPS37A):c.1191A>G (p.Leu397=)
NM_152415.3(VPS37A):c.126-1G>C
NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)
NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg)
NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)
NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn) rs1813663437
NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser)
NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly)
NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn) rs1020184933
NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile)
NM_152415.3(VPS37A):c.416+3A>G rs1813723711
NM_152415.3(VPS37A):c.417-2A>G rs752142940
NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys) rs371463914
NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile)
NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr) rs1346953622
NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser) rs1346953622
NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro) rs1814361607
NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del)
NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala)
NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr)
NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser) rs374964443
NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile) rs757586403
NM_152415.3(VPS37A):c.625G>A (p.Val209Met) rs1284443376
NM_152415.3(VPS37A):c.641C>T (p.Pro214Leu)
NM_152415.3(VPS37A):c.642+7A>G
NM_152415.3(VPS37A):c.642G>A (p.Pro214=) rs747596394
NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg)
NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)
NM_152415.3(VPS37A):c.676G>C (p.Asp226His)
NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)
NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr)
NM_152415.3(VPS37A):c.735G>A (p.Met245Ile)
NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)
NM_152415.3(VPS37A):c.751G>A (p.Val251Ile)
NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg) rs1164015467
NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)
NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg)
NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr)
NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)
NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser) rs776392994
NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys)
NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr)
NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)

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