NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys)
|
rs116171274
|
0.00051
|
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)
|
rs527421775
|
0.00024
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)
|
rs550136320
|
0.00014
|
NM_005186.4(CAPN1):c.1605+5G>A
|
rs375817528
|
0.00012
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)
|
rs142046798
|
0.00009
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)
|
rs375168720
|
0.00006
|
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)
|
rs554894381
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)
|
rs747965749
|
0.00005
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_003119.4(SPG7):c.1553-2_1553-1del
|
rs772828460
|
0.00003
|
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala)
|
rs587777222
|
0.00003
|
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)
|
rs778722037
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)
|
rs141431913
|
0.00003
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
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_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00002
|
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)
|
rs145638445
|
0.00002
|
NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr)
|
rs1055816694
|
0.00001
|
NM_001244008.2(KIF1A):c.217G>T (p.Val73Leu)
|
rs770463399
|
0.00001
|
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)
|
rs672601365
|
0.00001
|
NM_001244008.2(KIF1A):c.890A>G (p.Lys297Arg)
|
rs1250934752
|
0.00001
|
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)
|
rs398122382
|
0.00001
|
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)
|
rs138671904
|
0.00001
|
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)
|
rs756535079
|
0.00001
|
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter)
|
rs1482442290
|
0.00001
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)
|
rs1329063851
|
0.00001
|
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro)
|
rs864622094
|
0.00001
|
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)
|
rs764791523
|
0.00001
|
NM_003119.4(SPG7):c.775_781dup (p.Thr261fs)
|
rs780810116
|
0.00001
|
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)
|
rs753708048
|
0.00001
|
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)
|
rs72554620
|
0.00001
|
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu)
|
rs767611387
|
0.00001
|
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)
|
rs754730601
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
NM_004990.4(MARS1):c.2391+3A>G
|
rs995030286
|
0.00001
|
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)
|
rs756830713
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014592.4(KCNIP1):c.328G>A (p.Asp110Asn)
|
rs1763869544
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_015214.3(DDHD2):c.985C>T (p.Arg329Ter)
|
rs201258800
|
0.00001
|
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)
|
rs988442865
|
0.00001
|
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)
|
rs864622269
|
0.00001
|
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu)
|
rs778003334
|
0.00001
|
NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)
|
rs1410690526
|
0.00001
|
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)
|
rs775750642
|
0.00001
|
NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter)
|
rs761896412
|
0.00001
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
NM_025137.4(SPG11):c.5866+1G>A
|
rs765725393
|
0.00001
|
NC_000002.11:g.(241689965_241696735)_(241700261_241700645)del
|
|
|
NC_000002.11:g.(32323961_32339706)_(32372328_32379442)del
|
|
|
NC_000002.11:g.(32341281_32352017)_(32379565_?)del
|
|
|
NC_000002.11:g.(32341282_32352016)_(32353549_32361631)del
|
|
|
NC_000002.11:g.(32341282_32352016)_(32372328_32379442)del
|
|
|
NC_000002.11:g.(32353549_32361631)_(32372328_32379442)del
|
|
|
NC_000002.11:g.(32362258_32366972)_(32370077_32372286)del
|
|
|
NC_000002.11:g.(32372327_32379443)_(32379565_?)del
|
|
|
NC_000002.11:g.(86444234_86459747)_(86459926_86479079)del
|
|
|
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)del
|
|
|
NC_000002.11:g.(?_241656780)_(241737170_?)del
|
|
|
NC_000002.11:g.(?_32288901)_(32362257_32366973)del
|
|
|
NC_000002.11:g.(?_86444222)_(86565200_?)del
|
|
|
NC_000002.11:g.(?_86565200)_(86481816_86479194)del
|
|
|
NC_000008.10:g.(?_38090513)_(38117639_?)del
|
|
|
NC_000015.9:g.(44884528_44881613)_(44877833_44876757)dup
|
|
|
NC_000015.9:g.(44887456_44884637)_(44881449_44878049)del
|
|
|
NC_000015.9:g.(?_44955845)_(44918529_44914997)del
|
|
|
NC_000016.9:g.(89579446_89590413)_(89611181_89613065)del
|
|
|
NC_000016.9:g.(89592877_89595884)_(89599045_89611055)del
|
|
|
NM_000165.5(GJA1):c.93T>G (p.Ile31Met)
|
rs1773898804
|
|
NM_000533.5(PLP1):c.27_34dup (p.Val12fs)
|
rs2147762900
|
|
NM_001003800.2(BICD2):c.1519AAG[1] (p.Lys508del)
|
rs2131500576
|
|
NM_001160148.2(DDHD1):c.246del (p.Cys83fs)
|
rs2139938826
|
|
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs)
|
rs748385953
|
|
NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter)
|
rs1891509468
|
|
NM_001166114.2(PNPLA6):c.1362+1G>C
|
rs2146060616
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001244008.2(KIF1A):c.1001C>T (p.Ala334Val)
|
rs2125976763
|
|
NM_001244008.2(KIF1A):c.1013A>G (p.Tyr338Cys)
|
rs2125976707
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.206C>G (p.Ser69Trp)
|
rs786200949
|
|
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu)
|
rs786200949
|
|
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser)
|
rs1057518760
|
|
NM_001244008.2(KIF1A):c.232G>C (p.Gly78Arg)
|
rs1057518760
|
|
NM_001244008.2(KIF1A):c.2582+1G>A
|
rs2125874950
|
|
NM_001244008.2(KIF1A):c.311C>T (p.Ser104Phe)
|
rs1553639010
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His)
|
rs2054757914
|
|
NM_001244008.2(KIF1A):c.521T>C (p.Leu174Pro)
|
rs2126071436
|
|
NM_001244008.2(KIF1A):c.644G>A (p.Ser215Asn)
|
rs2126062641
|
|
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
|
rs797045164
|
|
NM_001244008.2(KIF1A):c.658G>T (p.Val220Phe)
|
rs201314877
|
|
NM_001244008.2(KIF1A):c.742G>A (p.Asp248Asn)
|
rs2126054501
|
|
NM_001244008.2(KIF1A):c.76T>C (p.Cys26Arg)
|
rs2126147743
|
|
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.798+2T>C
|
rs2126054153
|
|
NM_001244008.2(KIF1A):c.801G>T (p.Glu267Asp)
|
rs2126050077
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
NM_001244008.2(KIF1A):c.841G>C (p.Val281Leu)
|
rs2126049787
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|
NM_001244008.2(KIF1A):c.991_992delinsCC (p.Leu331Pro)
|
rs2125976792
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001271803.2(REEP2):c.119T>G (p.Met40Arg)
|
rs1763822813
|
|
NM_001371279.1(REEP1):c.105+471_105+472insA
|
rs2104392639
|
|
NM_001371279.1(REEP1):c.106-4A>G
|
rs1677011138
|
|
NM_001371279.1(REEP1):c.166G>C (p.Asp56His)
|
rs1060503493
|
|
NM_001371279.1(REEP1):c.182+5G>C
|
rs766166355
|
|
NM_001371279.1(REEP1):c.249del (p.Ser84fs)
|
rs2104244515
|
|
NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)
|
rs2104244362
|
|
NM_001371279.1(REEP1):c.299_303del (p.Glu100fs)
|
rs2104243887
|
|
NM_001371279.1(REEP1):c.418-1G>A
|
rs2104054912
|
|
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)
|
rs1060503496
|
|
NM_001371279.1(REEP1):c.74dup (p.Ala26fs)
|
rs2104394867
|
|
NM_001378418.1(TCF20):c.1656dup (p.Ser553fs)
|
rs2147215795
|
|
NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn)
|
rs1471760048
|
|
NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro)
|
rs759528128
|
|
NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys)
|
rs1884842111
|
|
NM_002156.5(HSPD1):c.292G>A (p.Val98Ile)
|
rs66468541
|
|
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)
|
rs2139621272
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)
|
rs775364547
|
|
NM_003119.4(SPG7):c.1162_1177dup (p.Leu393fs)
|
rs2152403759
|
|
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)
|
rs2058357964
|
|
NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter)
|
rs1179556029
|
|
NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu)
|
rs2152409901
|
|
NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro)
|
rs2058569546
|
|
NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter)
|
rs2152410293
|
|
NM_003119.4(SPG7):c.1702_1706del (p.Gln568fs)
|
rs2152411067
|
|
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)
|
rs267607085
|
|
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)
|
rs778387199
|
|
NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)
|
rs1463225651
|
|
NM_003119.4(SPG7):c.1960_1963del (p.Val654fs)
|
rs2152412161
|
|
NM_003119.4(SPG7):c.2070del (p.Phe691fs)
|
rs1555617559
|
|
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)
|
rs748255454
|
|
NM_003119.4(SPG7):c.39_63del (p.Gly14fs)
|
rs2152392855
|
|
NM_003119.4(SPG7):c.473_474del (p.Leu158fs)
|
rs879253798
|
|
NM_003119.4(SPG7):c.712A>T (p.Lys238Ter)
|
rs2152400493
|
|
NM_003119.4(SPG7):c.759-11_759-8del
|
rs758385553
|
|
NM_003119.4(SPG7):c.778_782delinsCCA (p.Met260fs)
|
rs2152402048
|
|
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)
|
rs768595656
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter)
|
rs1597597437
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_004820.5(CYP7B1):c.1168G>T (p.Gly390Ter)
|
rs765443036
|
|
NM_004820.5(CYP7B1):c.1249C>T (p.Arg417Cys)
|
rs367916692
|
|
NM_004820.5(CYP7B1):c.1311_1316delinsAGAA (p.Cys437_Leu439delinsTer)
|
rs2129629751
|
|
NM_004820.5(CYP7B1):c.1354C>T (p.Arg452Ter)
|
rs769676029
|
|
NM_004820.5(CYP7B1):c.151G>C (p.Gly51Arg)
|
rs961524982
|
|
NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)
|
rs1805578327
|
|
NM_004820.5(CYP7B1):c.260-1G>A
|
rs1385678413
|
|
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)
|
rs747514385
|
|
NM_004820.5(CYP7B1):c.67del (p.Ala23fs)
|
rs2129748221
|
|
NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)
|
rs2140159183
|
|
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)
|
rs2140159368
|
|
NM_004984.4(KIF5A):c.572G>A (p.Arg191His)
|
rs1488871976
|
|
NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)
|
rs1057524193
|
|
NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)
|
rs1057519195
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu)
|
rs2140162541
|
|
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)
|
rs387907285
|
|
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)
|
rs2140162576
|
|
NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)
|
rs2140162581
|
|
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)
|
rs121434441
|
|
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)
|
rs1555177824
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)
|
rs2140162883
|
|
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)
|
rs1416085161
|
|
NM_004990.4(MARS1):c.2426del (p.Gln809fs)
|
rs2140038700
|
|
NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter)
|
rs1428333006
|
|
NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs)
|
rs1948677308
|
|
NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter)
|
rs955142329
|
|
NM_005186.4(CAPN1):c.1165+1G>A
|
rs781004578
|
|
NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp)
|
rs1471188671
|
|
NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs)
|
rs1948961118
|
|
NM_005186.4(CAPN1):c.1697dup (p.Leu566fs)
|
rs1948992593
|
|
NM_005186.4(CAPN1):c.1969G>T (p.Glu657Ter)
|
rs1949027966
|
|
NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter)
|
rs1948565964
|
|
NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp)
|
rs776839253
|
|
NM_006612.6(KIF1C):c.1019+1dup
|
rs2143323595
|
|
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)
|
rs2143312682
|
|
NM_007126.5(VCP):c.283C>T (p.Arg95Cys)
|
rs121909332
|
|
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys)
|
rs1802811311
|
|
NM_007175.8(ERLIN2):c.374A>G (p.Asn125Ser)
|
rs2129680761
|
|
NM_007175.8(ERLIN2):c.430A>G (p.Ile144Val)
|
rs2129710278
|
|
NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)
|
rs2129726150
|
|
NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)
|
rs779335579
|
|
NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)
|
rs2129728774
|
|
NM_014363.6(SACS):c.10634_10635del (p.Val3545fs)
|
rs2137573354
|
|
NM_014363.6(SACS):c.10932dup (p.Leu3645fs)
|
rs2137570842
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.12014T>C (p.Leu4005Pro)
|
rs2137561906
|
|
NM_014363.6(SACS):c.12268C>A (p.His4090Asn)
|
rs2137559913
|
|
NM_014363.6(SACS):c.12538G>T (p.Glu4180Ter)
|
rs2137557832
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.1358del (p.Gly453fs)
|
rs2137722808
|
|
NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)
|
rs2137625077
|
|
NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)
|
rs764992284
|
|
NM_014363.6(SACS):c.4835dup (p.Phe1614fs)
|
rs2137624079
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5761T>G (p.Tyr1921Asp)
|
rs2137616027
|
|
NM_014363.6(SACS):c.6126C>A (p.Cys2042Ter)
|
rs761655321
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln)
|
rs1868700605
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7274G>C (p.Arg2425Pro)
|
rs771583552
|
|
NM_014363.6(SACS):c.8227del (p.His2743fs)
|
rs2137593965
|
|
NM_014363.6(SACS):c.914_915del (p.Thr305fs)
|
rs2137726985
|
|
NM_014846.4(WASHC5):c.1474A>C (p.Thr492Pro)
|
rs2130107479
|
|
NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly)
|
rs761801345
|
|
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro)
|
rs1554593901
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser)
|
rs1060502725
|
|
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp)
|
rs397515564
|
|
NM_014846.4(WASHC5):c.2645T>A (p.Phe882Tyr)
|
rs1815998956
|
|
NM_014855.3(AP5Z1):c.1323del (p.Ala440_Trp441insTer)
|
rs2115118331
|
|
NM_014855.3(AP5Z1):c.1596-3C>G
|
rs2115122331
|
|
NM_014855.3(AP5Z1):c.1730_1733del (p.Asn577fs)
|
rs1189027155
|
|
NM_014855.3(AP5Z1):c.1939-1G>A
|
rs2115128968
|
|
NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)
|
rs397704705
|
|
NM_014946.4(SPAST):c.1004+1G>T
|
rs1553315236
|
|
NM_014946.4(SPAST):c.1004+2T>G
|
rs1553315240
|
|
NM_014946.4(SPAST):c.1004+5G>T
|
rs1320663265
|
|
NM_014946.4(SPAST):c.1039C>T (p.Gln347Ter)
|
rs1553315329
|
|
NM_014946.4(SPAST):c.1047G>C (p.Leu349Phe)
|
rs2148734527
|
|
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)
|
rs1057519181
|
|
NM_014946.4(SPAST):c.1085C>T (p.Ser362Phe)
|
rs121908509
|
|
NM_014946.4(SPAST):c.1098+2T>A
|
rs2148734626
|
|
NM_014946.4(SPAST):c.1099-1G>A
|
rs2148744884
|
|
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)
|
rs1553316802
|
|
NM_014946.4(SPAST):c.1112T>G (p.Leu371Arg)
|
rs1553316806
|
|
NM_014946.4(SPAST):c.1148C>G (p.Pro383Arg)
|
rs2148745001
|
|
NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala)
|
rs786204132
|
|
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)
|
rs797044850
|
|
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
|
rs1679218212
|
|
NM_014946.4(SPAST):c.1174-1G>A
|
rs1553317024
|
|
NM_014946.4(SPAST):c.1181C>A (p.Ala394Glu)
|
rs1189374970
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1206CTT[1] (p.Phe404del)
|
rs1553317028
|
|
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs)
|
rs1553317032
|
|
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val)
|
rs587777757
|
|
NM_014946.4(SPAST):c.1219A>C (p.Ser407Arg)
|
rs1553317041
|
|
NM_014946.4(SPAST):c.1226C>T (p.Ala409Val)
|
rs2148746390
|
|
NM_014946.4(SPAST):c.1242A>G (p.Lys414=)
|
rs1553317048
|
|
NM_014946.4(SPAST):c.1245+3G>C
|
rs2148746437
|
|
NM_014946.4(SPAST):c.1252G>A (p.Glu418Lys)
|
rs1553318164
|
|
NM_014946.4(SPAST):c.1253A>G (p.Glu418Gly)
|
rs2148753625
|
|
NM_014946.4(SPAST):c.1263del (p.Lys421fs)
|
rs1679543364
|
|
NM_014946.4(SPAST):c.1266G>C (p.Leu422Phe)
|
rs1679543653
|
|
NM_014946.4(SPAST):c.1271G>C (p.Arg424Thr)
|
rs2148753672
|
|
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1276C>T (p.Leu426Phe)
|
rs1060502227
|
|
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter)
|
rs786204126
|
|
NM_014946.4(SPAST):c.1306T>C (p.Ser436Pro)
|
rs2148753700
|
|
NM_014946.4(SPAST):c.1307C>A (p.Ser436Tyr)
|
rs1553318184
|
|
NM_014946.4(SPAST):c.1321+1G>A
|
rs2148753724
|
|
NM_014946.4(SPAST):c.1321+2T>G
|
rs2148753725
|
|
NM_014946.4(SPAST):c.1322-2A>C
|
rs1553318208
|
|
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly)
|
rs121908512
|
|
NM_014946.4(SPAST):c.1340T>C (p.Leu447Ser)
|
rs2148753950
|
|
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)
|
rs1553318230
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_014946.4(SPAST):c.1384A>C (p.Lys462Gln)
|
rs1553318246
|
|
NM_014946.4(SPAST):c.1396C>G (p.Leu466Val)
|
rs1553318252
|
|
NM_014946.4(SPAST):c.1405T>G (p.Phe469Val)
|
rs2148754101
|
|
NM_014946.4(SPAST):c.1413+1_1413+2del
|
rs1679558544
|
|
NM_014946.4(SPAST):c.1413+3_1413+6del
|
rs570685843
|
|
NM_014946.4(SPAST):c.1414-1G>C
|
rs786204163
|
|
NM_014946.4(SPAST):c.1437_1438del (p.Arg479fs)
|
rs864622268
|
|
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg)
|
rs1553318317
|
|
NM_014946.4(SPAST):c.1462A>G (p.Arg488Gly)
|
rs1553318329
|
|
NM_014946.4(SPAST):c.1463_1464insATTA (p.Pro489fs)
|
rs2148754355
|
|
NM_014946.4(SPAST):c.1466C>T (p.Pro489Leu)
|
rs1553318331
|
|
NM_014946.4(SPAST):c.1472A>G (p.Glu491Gly)
|
rs2148754376
|
|
NM_014946.4(SPAST):c.1483G>T (p.Ala495Ser)
|
rs1060502228
|
|
NM_014946.4(SPAST):c.1493+1G>T
|
rs1553318351
|
|
NM_014946.4(SPAST):c.1493+2T>C
|
rs1553318353
|
|
NM_014946.4(SPAST):c.1494-1G>A
|
rs1315245986
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1496del (p.Arg499fs)
|
rs2148758241
|
|
NM_014946.4(SPAST):c.1537-1G>A
|
rs1553319280
|
|
NM_014946.4(SPAST):c.1550T>C (p.Leu517Ser)
|
rs2148759388
|
|
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)
|
rs1553319290
|
|
NM_014946.4(SPAST):c.1560_1561insTT (p.Leu521fs)
|
rs2148759400
|
|
NM_014946.4(SPAST):c.1561_1564del (p.Leu521fs)
|
rs2148759407
|
|
NM_014946.4(SPAST):c.1562dup (p.Leu522fs)
|
rs2148759412
|
|
NM_014946.4(SPAST):c.1591C>T (p.Gln531Ter)
|
rs2148759447
|
|
NM_014946.4(SPAST):c.1616+5G>A
|
rs2148759485
|
|
NM_014946.4(SPAST):c.1617-15_1624dup
|
rs2148760797
|
|
NM_014946.4(SPAST):c.1617-2A>T
|
rs1553319524
|
|
NM_014946.4(SPAST):c.165C>A (p.Tyr55Ter)
|
rs368951498
|
|
NM_014946.4(SPAST):c.1667C>T (p.Ala556Val)
|
rs2148760886
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
NM_014946.4(SPAST):c.1688-1G>C
|
rs1573174147
|
|
NM_014946.4(SPAST):c.1715T>C (p.Met572Thr)
|
rs138146982
|
|
NM_014946.4(SPAST):c.1728+1G>A
|
rs587777754
|
|
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter)
|
rs778023258
|
|
NM_014946.4(SPAST):c.1742G>C (p.Arg581Pro)
|
rs749484350
|
|
NM_014946.4(SPAST):c.1767del (p.Lys591_Ile592insTer)
|
rs2148769284
|
|
NM_014946.4(SPAST):c.1774dup (p.Ile592fs)
|
rs1680185365
|
|
NM_014946.4(SPAST):c.444G>A (p.Trp148Ter)
|
rs1553399493
|
|
NM_014946.4(SPAST):c.447T>A (p.Tyr149Ter)
|
rs1553399498
|
|
NM_014946.4(SPAST):c.577C>T (p.Gln193Ter)
|
rs1553400013
|
|
NM_014946.4(SPAST):c.67_85dup (p.Leu29fs)
|
rs1676388641
|
|
NM_014946.4(SPAST):c.72_90dup (p.Pro31fs)
|
rs886800078
|
|
NM_014946.4(SPAST):c.748A>T (p.Lys250Ter)
|
rs1318536893
|
|
NM_014946.4(SPAST):c.807C>G (p.Tyr269Ter)
|
rs771388402
|
|
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)
|
rs1553314948
|
|
NM_014946.4(SPAST):c.870+3A>G
|
rs1553314979
|
|
NM_014946.4(SPAST):c.872del
|
rs1678801811
|
|
NM_014946.4(SPAST):c.955A>T (p.Asn319Tyr)
|
rs1678808584
|
|
NM_014946.4(SPAST):c.983T>C (p.Ile328Thr)
|
rs2148734189
|
|
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)
|
rs777288668
|
|
NM_015214.3(DDHD2):c.1529G>A (p.Gly510Glu)
|
rs2130848885
|
|
NM_015346.4(ZFYVE26):c.1971C>G (p.Tyr657Ter)
|
rs2040001177
|
|
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)
|
rs773333879
|
|
NM_015346.4(ZFYVE26):c.3G>T (p.Met1Ile)
|
rs1392868365
|
|
NM_015346.4(ZFYVE26):c.5422C>T (p.Gln1808Ter)
|
rs387907057
|
|
NM_015346.4(ZFYVE26):c.6610del (p.Phe2203_Ile2204insTer)
|
rs2140185555
|
|
NM_015346.4(ZFYVE26):c.7020_7027dup (p.Phe2343Ter)
|
rs2140183172
|
|
NM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)
|
rs1555365597
|
|
NM_015915.5(ATL1):c.118G>T (p.Val40Phe)
|
rs2140201780
|
|
NM_015915.5(ATL1):c.1207del (p.Arg403fs)
|
rs2140239030
|
|
NM_015915.5(ATL1):c.1220A>T (p.Lys407Met)
|
rs2039539459
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)
|
rs2140239163
|
|
NM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)
|
rs2140239458
|
|
NM_015915.5(ATL1):c.470T>C (p.Leu157Ser)
|
rs119476051
|
|
NM_015915.5(ATL1):c.575T>A (p.Leu192His)
|
rs2140209847
|
|
NM_015915.5(ATL1):c.650G>A (p.Arg217Gln)
|
rs119476049
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_015915.5(ATL1):c.749T>C (p.Leu250Pro)
|
rs2140226894
|
|
NM_015915.5(ATL1):c.751C>A (p.Gln251Lys)
|
rs1595615134
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_016630.7(SPG21):c.345_346del (p.Gln116fs)
|
rs2140427422
|
|
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr)
|
rs1319508199
|
|
NM_020919.4(ALS2):c.3221G>A (p.Gly1074Asp)
|
rs2106005994
|
|
NM_020919.4(ALS2):c.326del (p.Asn109fs)
|
rs2106089798
|
|
NM_020919.4(ALS2):c.3513-1G>A
|
rs2105999102
|
|
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)
|
rs386134187
|
|
NM_020919.4(ALS2):c.4381C>T (p.Arg1461Ter)
|
rs374047961
|
|
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln)
|
rs1689578912
|
|
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)
|
rs1574787779
|
|
NM_020944.3(GBA2):c.2166_2176del (p.Gly722_Gln723insTer)
|
rs2131947494
|
|
NM_020944.3(GBA2):c.2248_2249del (p.Met750fs)
|
rs2131945469
|
|
NM_024306.5(FA2H):c.822del (p.Val275fs)
|
rs2144601954
|
|
NM_025137.4(SPG11):c.1130del (p.His377fs)
|
rs2141106983
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1293_1294insTT (p.Val432fs)
|
rs2141106328
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
NM_025137.4(SPG11):c.1819del (p.Ser607fs)
|
rs1220982145
|
|
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)
|
rs312262735
|
|
NM_025137.4(SPG11):c.2339dup (p.Asn780fs)
|
rs1454768655
|
|
NM_025137.4(SPG11):c.2362dup (p.Arg788fs)
|
rs2141029118
|
|
NM_025137.4(SPG11):c.2849del (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3447del (p.Ile1150fs)
|
rs2140999428
|
|
NM_025137.4(SPG11):c.3686+4A>G
|
rs1595865855
|
|
NM_025137.4(SPG11):c.4002-2A>G
|
rs2140973951
|
|
NM_025137.4(SPG11):c.4290dup (p.Leu1431fs)
|
rs2140972000
|
|
NM_025137.4(SPG11):c.4406_4407insTA (p.Leu1470fs)
|
rs2140971667
|
|
NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter)
|
rs1277084672
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.6123dup (p.Gln2042fs)
|
rs2140928964
|
|
NM_025137.4(SPG11):c.6343+5G>T
|
rs756302161
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)
|
rs2150388869
|
|
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)
|
rs104894490
|
|
NM_144599.5(NIPA1):c.403G>A (p.Val135Met)
|
rs763295984
|
|
NM_183075.3(CYP2U1):c.1469G>A (p.Cys490Tyr)
|
rs1468917268
|
|
NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu)
|
rs773841071
|
|
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg)
|
rs397514515
|
|