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
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NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
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NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
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NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
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NM_002860.4(ALDH18A1):c.933+6A>C
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NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
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|
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
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NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
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NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
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NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)
|
rs192770256
|
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NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
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NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)
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NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)
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NM_006070.6(TFG):c.1014T>G (p.Asn338Lys)
|
rs1553704923
|
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NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)
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NM_006070.6(TFG):c.101A>T (p.Asp34Val)
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NM_006070.6(TFG):c.1027C>G (p.Pro343Ala)
|
rs750232252
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NM_006070.6(TFG):c.1030G>A (p.Ala344Thr)
|
rs1576389587
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NM_006070.6(TFG):c.1036C>T (p.Gln346Ter)
|
rs1576389617
|
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NM_006070.6(TFG):c.1051C>T (p.Pro351Ser)
|
rs2149106556
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NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)
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NM_006070.6(TFG):c.1097T>A (p.Leu366His)
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NM_006070.6(TFG):c.1111A>G (p.Met371Val)
|
rs2095155960
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NM_006070.6(TFG):c.1113G>A (p.Met371Ile)
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NM_006070.6(TFG):c.1118dup (p.Pro374fs)
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NM_006070.6(TFG):c.1120C>T (p.Pro374Ser)
|
rs781504257
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NM_006070.6(TFG):c.1123C>T (p.Pro375Ser)
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NM_006070.6(TFG):c.1133C>T (p.Pro378Leu)
|
rs2095156171
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NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)
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NM_006070.6(TFG):c.1157C>T (p.Pro386Leu)
|
rs766049461
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NM_006070.6(TFG):c.1163T>G (p.Phe388Cys)
|
rs2149106914
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NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)
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NM_006070.6(TFG):c.1178C>A (p.Thr393Asn)
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NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)
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NM_006070.6(TFG):c.1199G>C (p.Arg400Pro)
|
rs963151000
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NM_006070.6(TFG):c.160G>A (p.Val54Ile)
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NM_006070.6(TFG):c.166A>G (p.Ile56Val)
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NM_006070.6(TFG):c.175A>G (p.Lys59Glu)
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NM_006070.6(TFG):c.17A>C (p.Asp6Ala)
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NM_006070.6(TFG):c.183A>C (p.Glu61Asp)
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NM_006070.6(TFG):c.184+5G>A
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NM_006070.6(TFG):c.184+6A>C
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NM_006070.6(TFG):c.194T>G (p.Leu65Arg)
|
rs2149066367
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NM_006070.6(TFG):c.196A>G (p.Ile66Val)
|
rs2095056321
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NM_006070.6(TFG):c.197T>C (p.Ile66Thr)
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NM_006070.6(TFG):c.198A>G (p.Ile66Met)
|
rs2095056339
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NM_006070.6(TFG):c.230C>T (p.Ala77Val)
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NM_006070.6(TFG):c.237G>T (p.Gln79His)
|
rs1173009495
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NM_006070.6(TFG):c.254A>C (p.Lys85Thr)
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NM_006070.6(TFG):c.280C>A (p.Pro94Thr)
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NM_006070.6(TFG):c.290T>A (p.Leu97His)
|
rs1576366321
|
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NM_006070.6(TFG):c.303G>C (p.Gln101His)
|
rs746086227
|
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NM_006070.6(TFG):c.320G>A (p.Arg107Gln)
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NM_006070.6(TFG):c.330A>G (p.Ile110Met)
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NM_006070.6(TFG):c.332A>C (p.Glu111Ala)
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NM_006070.6(TFG):c.338G>T (p.Arg113Leu)
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NM_006070.6(TFG):c.341A>G (p.Asn114Ser)
|
rs752292956
|
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NM_006070.6(TFG):c.34A>G (p.Ile12Val)
|
rs2149057606
|
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NM_006070.6(TFG):c.352C>T (p.Arg118Cys)
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NM_006070.6(TFG):c.353G>A (p.Arg118His)
|
rs376804190
|
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NM_006070.6(TFG):c.361G>A (p.Asp121Asn)
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NM_006070.6(TFG):c.361G>T (p.Asp121Tyr)
|
rs907540820
|
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NM_006070.6(TFG):c.373C>T (p.Pro125Ser)
|
rs746234370
|
|
NM_006070.6(TFG):c.37A>G (p.Ile13Val)
|
rs200695895
|
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NM_006070.6(TFG):c.403A>G (p.Ile135Val)
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|
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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)
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|
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NM_006070.6(TFG):c.524A>G (p.Asp175Gly)
|
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NM_006070.6(TFG):c.533A>G (p.Asn178Ser)
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NM_006070.6(TFG):c.53G>C (p.Gly18Ala)
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NM_006070.6(TFG):c.541_543del (p.Val181del)
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NM_006070.6(TFG):c.556G>A (p.Gly186Ser)
|
rs867024898
|
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NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
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|
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NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
|
rs370447670
|
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NM_006070.6(TFG):c.581-24_581-9del
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NM_006070.6(TFG):c.581-8C>G
|
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NM_006070.6(TFG):c.61A>G (p.Ile21Val)
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NM_006070.6(TFG):c.61A>T (p.Ile21Phe)
|
rs377136610
|
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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)
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|
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NM_006070.6(TFG):c.641C>T (p.Ser214Phe)
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NM_006070.6(TFG):c.689C>A (p.Thr230Lys)
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NM_006070.6(TFG):c.689C>T (p.Thr230Ile)
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NM_006070.6(TFG):c.700A>G (p.Thr234Ala)
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NM_006070.6(TFG):c.701C>T (p.Thr234Ile)
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NM_006070.6(TFG):c.709G>A (p.Gly237Ser)
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|
|
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
|
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NM_006070.6(TFG):c.743A>G (p.Gln248Arg)
|
rs1576379554
|
|
NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)
|
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|
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
|
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NM_006070.6(TFG):c.796C>G (p.Gln266Glu)
|
|
|
NM_006070.6(TFG):c.808A>C (p.Ile270Leu)
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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)
|
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NM_006070.6(TFG):c.880C>A (p.Gln294Lys)
|
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|
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)
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NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)
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NM_152415.3(VPS37A):c.676G>C (p.Asp226His)
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NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)
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NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr)
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NM_152415.3(VPS37A):c.735G>A (p.Met245Ile)
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NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)
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NM_152415.3(VPS37A):c.751G>A (p.Val251Ile)
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NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg)
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rs1164015467
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NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)
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NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg)
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NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr)
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NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)
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NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser)
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rs776392994
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NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys)
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NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr)
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NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)
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