ClinVar Miner

List of variants reported as likely benign for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6136
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_015346.4(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827 0.00258
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_004733.4(SLC33A1):c.169G>C (p.Gly57Arg) rs150651158 0.00213
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_020944.3(GBA2):c.326G>A (p.Ser109Asn) rs140988229 0.00197
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_183075.3(CYP2U1):c.60C>T (p.Leu20=) rs535692203 0.00168
NM_006517.5(SLC16A2):c.949C>T (p.Arg317Cys) rs144755294 0.00156
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_183075.3(CYP2U1):c.1132G>A (p.Val378Ile) rs61740284 0.00140
NM_020944.3(GBA2):c.815T>C (p.Val272Ala) rs142602400 0.00133
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_015346.4(ZFYVE26):c.6086T>C (p.Ile2029Thr) rs139163400 0.00130
NM_020944.3(GBA2):c.1420G>A (p.Ala474Thr) rs147443644 0.00124
NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu) rs147506864 0.00122
NM_024306.5(FA2H):c.570C>A (p.Thr190=) rs138892784 0.00120
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 0.00117
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_015346.4(ZFYVE26):c.1945G>A (p.Val649Met) rs144790966 0.00107
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00097
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg) rs147135554 0.00095
NM_015346.4(ZFYVE26):c.3212G>A (p.Ser1071Asn) rs7156206 0.00092
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe) rs145213666 0.00091
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.10972C>T (p.Arg3658Trp) rs115155117 0.00078
NM_014363.6(SACS):c.1374A>G (p.Thr458=) rs149129638 0.00076
NM_015346.4(ZFYVE26):c.74G>C (p.Arg25Pro) rs148104959 0.00076
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678 0.00074
NM_014231.5(VAMP1):c.2+17G>A rs367734911 0.00073
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_015346.4(ZFYVE26):c.216T>C (p.Pro72=) rs143702416 0.00070
NM_020944.3(GBA2):c.1546A>G (p.Thr516Ala) rs199920123 0.00069
NM_001478.5(B4GALNT1):c.371C>A (p.Ala124Asp) rs143174548 0.00067
NM_014363.6(SACS):c.2234G>A (p.Arg745His) rs143677534 0.00067
NM_001478.5(B4GALNT1):c.383+20G>A rs201682022 0.00066
NM_015346.4(ZFYVE26):c.6019A>G (p.Ser2007Gly) rs150497301 0.00066
NM_015346.4(ZFYVE26):c.3051T>C (p.Ala1017=) rs138895639 0.00064
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys) rs201277546 0.00061
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00060
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) rs147013767 0.00060
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr) rs534573391 0.00058
NM_024306.5(FA2H):c.444G>T (p.Pro148=) rs138087787 0.00057
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_007347.5(AP4E1):c.1316+15C>T rs367575074 0.00054
NM_014363.6(SACS):c.4985C>T (p.Thr1662Met) rs139387396 0.00054
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro) rs145666414 0.00052
NM_004984.4(KIF5A):c.1656C>T (p.Asn552=) rs776685173 0.00051
NM_020944.3(GBA2):c.568-19G>C rs370430367 0.00051
NM_001478.5(B4GALNT1):c.1212C>T (p.Pro404=) rs374497472 0.00050
NM_005619.5(RTN2):c.1312C>T (p.Arg438Cys) rs148270789 0.00049
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_006517.5(SLC16A2):c.538G>A (p.Val180Ile) rs759933264 0.00048
NM_014363.6(SACS):c.260-9G>A rs376676263 0.00048
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_020944.3(GBA2):c.1688-8T>C rs754147042 0.00047
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=) rs146793500 0.00044
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_015346.4(ZFYVE26):c.30T>G (p.Ala10=) rs141905183 0.00043
NM_015346.4(ZFYVE26):c.5654-10C>G rs183559101 0.00043
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283 0.00042
NM_015346.4(ZFYVE26):c.7056C>T (p.Thr2352=) rs141586165 0.00042
NM_020944.3(GBA2):c.2201G>A (p.Arg734His) rs142621039 0.00042
NM_014363.6(SACS):c.2602A>G (p.Ile868Val) rs142284018 0.00040
NM_007347.5(AP4E1):c.2268A>G (p.Gln756=) rs139497190 0.00039
NM_007347.5(AP4E1):c.735G>A (p.Gly245=) rs146147470 0.00039
NM_001012301.4(ARSI):c.852C>T (p.Tyr284=) rs139203947 0.00038
NM_001128126.3(AP4S1):c.306+4191A>G rs200969079 0.00038
NM_001478.5(B4GALNT1):c.1144-7C>T rs370107238 0.00038
NM_020944.3(GBA2):c.217G>A (p.Glu73Lys) rs141800351 0.00038
NM_024306.5(FA2H):c.66C>G (p.Ala22=) rs941508343 0.00038
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501 0.00036
NM_007347.5(AP4E1):c.1566C>G (p.Ser522=) rs78870657 0.00035
NM_014363.6(SACS):c.3828A>G (p.Pro1276=) rs369988818 0.00035
NM_015346.4(ZFYVE26):c.624T>C (p.Asp208=) rs140128583 0.00034
NM_020944.3(GBA2):c.359+15T>A rs183068847 0.00034
NM_001012301.4(ARSI):c.231G>T (p.Leu77=) rs143586885 0.00033
NM_001012301.4(ARSI):c.737G>A (p.Arg246His) rs143734494 0.00033
NM_183075.3(CYP2U1):c.396C>T (p.Asp132=) rs368014569 0.00033
NM_001012301.4(ARSI):c.1135G>A (p.Glu379Lys) rs200384227 0.00032
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys) rs140678034 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_001012301.4(ARSI):c.828C>T (p.Asn276=) rs201541308 0.00031
NM_001128126.3(AP4S1):c.228C>T (p.Asn76=) rs144109125 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014363.6(SACS):c.439G>C (p.Asp147His) rs202226274 0.00031
NM_183075.3(CYP2U1):c.372C>T (p.His124=) rs375489915 0.00031
NM_014363.6(SACS):c.11385T>G (p.Ala3795=) rs148605896 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_015346.4(ZFYVE26):c.5433G>A (p.Pro1811=) rs145094388 0.00030
NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=) rs371690344 0.00029
NM_014363.6(SACS):c.2929C>T (p.Leu977=) rs146296924 0.00029
NM_014363.6(SACS):c.7049A>G (p.Glu2350Gly) rs141091294 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_004984.4(KIF5A):c.1236G>A (p.Glu412=) rs143591739 0.00028
NM_015346.4(ZFYVE26):c.5979C>T (p.Ala1993=) rs139484310 0.00027
NM_024306.5(FA2H):c.540G>T (p.Val180=) rs150423523 0.00027
NM_001385875.1(ZFYVE27):c.541G>A (p.Val181Met) rs150951341 0.00026
NM_002156.5(HSPD1):c.1681A>G (p.Met561Val) rs371969794 0.00026
NM_004733.4(SLC33A1):c.177C>T (p.Gly59=) rs139129650 0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_014363.6(SACS):c.1273C>A (p.Pro425Thr) rs142024534 0.00026
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr) rs140028127 0.00026
NM_015346.4(ZFYVE26):c.1272-15A>G rs200345163 0.00026
NM_001478.5(B4GALNT1):c.996C>T (p.Phe332=) rs376140415 0.00025
NM_005619.5(RTN2):c.1607C>T (p.Ala536Val) rs140567426 0.00025
NM_015346.4(ZFYVE26):c.2554-16_2554-14del rs745843519 0.00025
NM_015346.4(ZFYVE26):c.2554-17T>G rs765059320 0.00025
NM_002156.5(HSPD1):c.732T>G (p.Val244=) rs142108846 0.00024
NM_007347.5(AP4E1):c.1624A>G (p.Met542Val) rs542940704 0.00024
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys) rs61978562 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_020944.3(GBA2):c.1688-13G>C rs779358452 0.00024
NM_002156.5(HSPD1):c.1712G>T (p.Gly571Val) rs374322039 0.00023
NM_002156.5(HSPD1):c.871C>G (p.Leu291Val) rs139649754 0.00023
NM_007347.5(AP4E1):c.3217C>A (p.Gln1073Lys) rs117612527 0.00023
NM_014363.6(SACS):c.1884C>T (p.Pro628=) rs144468379 0.00023
NM_020944.3(GBA2):c.786+9C>A rs374309697 0.00023
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala) rs372022664 0.00022
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_183075.3(CYP2U1):c.1126+11G>C rs370834419 0.00022
NM_004187.5(KDM5C):c.2595C>T (p.Cys865=) rs371450943 0.00021
NM_007347.5(AP4E1):c.420+8A>G rs779014673 0.00021
NM_014231.5(VAMP1):c.114G>A (p.Gln38=) rs145088983 0.00021
NM_015346.4(ZFYVE26):c.4428G>T (p.Arg1476=) rs144721227 0.00021
NM_020435.4(GJC2):c.633C>T (p.Arg211=) rs981105825 0.00021
NM_024306.5(FA2H):c.198G>C (p.Pro66=) rs570454174 0.00021
NM_024306.5(FA2H):c.271-8C>A rs199610820 0.00021
NM_183075.3(CYP2U1):c.639C>T (p.His213=) rs147256952 0.00021
NM_001012301.4(ARSI):c.680G>A (p.Arg227His) rs144405126 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe) rs139579036 0.00020
NM_014363.6(SACS):c.9778G>C (p.Asp3260His) rs148545339 0.00020
NM_020435.4(GJC2):c.993C>G (p.Pro331=) rs891962078 0.00020
NM_020944.3(GBA2):c.964C>T (p.Leu322=) rs150861266 0.00020
NM_183075.3(CYP2U1):c.1162G>A (p.Ala388Thr) rs138968113 0.00020
NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=) rs147057295 0.00019
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser) rs201558584 0.00019
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.9333T>C (p.Asn3111=) rs150532740 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_004187.5(KDM5C):c.2091C>T (p.Phe697=) rs782198070 0.00018
NM_015346.4(ZFYVE26):c.1903C>T (p.Leu635=) rs536238458 0.00018
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_004984.4(KIF5A):c.820-10C>T rs374848194 0.00017
NM_007347.5(AP4E1):c.1485T>C (p.Tyr495=) rs141477361 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp) rs149018756 0.00017
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074 0.00017
NM_015346.4(ZFYVE26):c.1369C>G (p.Leu457Val) rs201917832 0.00017
NM_024306.5(FA2H):c.925G>A (p.Val309Ile) rs150427439 0.00017
NM_001478.5(B4GALNT1):c.153G>A (p.Leu51=) rs377186391 0.00016
NM_004984.4(KIF5A):c.129+9C>T rs372131378 0.00016
NM_004984.4(KIF5A):c.2024-7C>T rs375960933 0.00016
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.1444C>G (p.Leu482Val) rs141487769 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.6576C>T (p.Ile2192=) rs145327845 0.00016
NM_015346.4(ZFYVE26):c.5485-15G>A rs149524358 0.00016
NM_020944.3(GBA2):c.2478C>T (p.Tyr826=) rs374440648 0.00016
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met) rs141854925 0.00016
NM_024306.5(FA2H):c.613+14C>G rs377183717 0.00016
NM_024306.5(FA2H):c.614-7C>G rs377171975 0.00016
NM_001478.5(B4GALNT1):c.600A>G (p.Gly200=) rs200042738 0.00015
NM_007347.5(AP4E1):c.1497G>T (p.Leu499=) rs369231225 0.00015
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.1311G>A (p.Thr437=) rs140671039 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_001278116.2(L1CAM):c.1722G>A (p.Gly574=) rs2857756 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001385875.1(ZFYVE27):c.424C>T (p.Arg142Cys) rs145746084 0.00014
NM_001478.5(B4GALNT1):c.1503C>T (p.Tyr501=) rs373413298 0.00014
NM_004820.5(CYP7B1):c.851-16A>G rs375053083 0.00014
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) rs112982686 0.00014
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016 0.00014
NM_007347.5(AP4E1):c.2541T>C (p.Ser847=) rs148654358 0.00014
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_015346.4(ZFYVE26):c.2396C>T (p.Thr799Met) rs200179480 0.00014
NM_015346.4(ZFYVE26):c.6918A>T (p.Thr2306=) rs146227863 0.00014
NM_015346.4(ZFYVE26):c.792G>A (p.Leu264=) rs149572207 0.00014
NM_020944.3(GBA2):c.1848T>C (p.Asp616=) rs766509602 0.00014
NM_024306.5(FA2H):c.202A>G (p.Arg68Gly) rs750198250 0.00014
NM_024306.5(FA2H):c.969G>A (p.Pro323=) rs144071567 0.00014
NM_001012301.4(ARSI):c.495C>T (p.Asp165=) rs767783947 0.00013
NM_001278116.2(L1CAM):c.999G>T (p.Pro333=) rs200201490 0.00013
NM_001478.5(B4GALNT1):c.1431C>T (p.Ser477=) rs375772910 0.00013
NM_004984.4(KIF5A):c.261G>A (p.Gln87=) rs369673537 0.00013
NM_007347.5(AP4E1):c.1416A>G (p.Arg472=) rs148239178 0.00013
NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser) rs145541719 0.00013
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile) rs201569239 0.00013
NM_014363.6(SACS):c.2175C>G (p.Ala725=) rs756363296 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_014363.6(SACS):c.9399A>G (p.Lys3133=) rs762665640 0.00013
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) rs140577908 0.00013
NM_015346.4(ZFYVE26):c.5225C>G (p.Ser1742Cys) rs193244014 0.00013
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=) rs199794711 0.00013
NM_020435.4(GJC2):c.519C>T (p.Gly173=) rs772545343 0.00013
NM_024306.5(FA2H):c.798C>T (p.Asp266=) rs771402018 0.00013
NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile) rs374109524 0.00013
NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys) rs748402153 0.00012
NM_005619.5(RTN2):c.981G>A (p.Pro327=) rs368114241 0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014363.6(SACS):c.12647A>G (p.Asp4216Gly) rs550068559 0.00012
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys) rs141553858 0.00012
NM_014363.6(SACS):c.3414T>C (p.Asn1138=) rs146431793 0.00012
NM_014363.6(SACS):c.3423G>A (p.Leu1141=) rs184541898 0.00012
NM_014363.6(SACS):c.4998A>G (p.Thr1666=) rs184994682 0.00012
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn) rs144715822 0.00012
NM_014363.6(SACS):c.7641A>G (p.Lys2547=) rs780021681 0.00012
NM_015346.4(ZFYVE26):c.1351C>T (p.Leu451Phe) rs199989945 0.00012
NM_015346.4(ZFYVE26):c.3300G>T (p.Leu1100=) rs555141551 0.00012
NM_015346.4(ZFYVE26):c.3695G>A (p.Cys1232Tyr) rs150010519 0.00012
NM_015346.4(ZFYVE26):c.6507C>T (p.Asn2169=) rs151192916 0.00012
NM_015346.4(ZFYVE26):c.894G>A (p.Pro298=) rs34082929 0.00012
NM_024306.5(FA2H):c.471C>G (p.His157Gln) rs146060468 0.00012
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr) rs142944337 0.00012
NM_002156.5(HSPD1):c.1488A>G (p.Gln496=) rs142434256 0.00011
NM_004187.5(KDM5C):c.3496C>T (p.Arg1166Cys) rs372624621 0.00011
NM_004187.5(KDM5C):c.4611G>A (p.Ser1537=) rs149733911 0.00011
NM_004733.4(SLC33A1):c.132C>T (p.Gly44=) rs144120239 0.00011
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=) rs15594 0.00011
NM_004733.4(SLC33A1):c.879G>A (p.Gly293=) rs143409270 0.00011
NM_004984.4(KIF5A):c.2361+7G>A rs371567825 0.00011
NM_004984.4(KIF5A):c.3033G>A (p.Pro1011=) rs148434838 0.00011
NM_005619.5(RTN2):c.1021A>G (p.Met341Val) rs374003662 0.00011
NM_005619.5(RTN2):c.560-7G>A rs370068938 0.00011
NM_014363.6(SACS):c.12018G>A (p.Leu4006=) rs774074913 0.00011
NM_014363.6(SACS):c.13014T>C (p.Pro4338=) rs374410231 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014363.6(SACS):c.2681C>T (p.Ser894Leu) rs201857647 0.00011
NM_014363.6(SACS):c.4689G>A (p.Val1563=) rs574231650 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) rs201866523 0.00011
NM_014363.6(SACS):c.591C>T (p.Val197=) rs750923640 0.00011
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_015346.4(ZFYVE26):c.4548G>A (p.Ala1516=) rs370722589 0.00011
NM_020944.3(GBA2):c.2744T>C (p.Phe915Ser) rs143456960 0.00011
NM_020944.3(GBA2):c.29G>A (p.Gly10Glu) rs779487525 0.00011
NM_183075.3(CYP2U1):c.1161C>T (p.Gly387=) rs150288490 0.00011
NM_001478.5(B4GALNT1):c.48C>A (p.Ala16=) rs545189363 0.00010
NM_004733.4(SLC33A1):c.687T>C (p.Asn229=) rs146423648 0.00010
NM_004820.5(CYP7B1):c.122+9C>T rs968898541 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_006517.5(SLC16A2):c.1502A>G (p.His501Arg) rs140303247 0.00010
NM_007347.5(AP4E1):c.3238A>G (p.Ile1080Val) rs767423538 0.00010
NM_014363.6(SACS):c.11244A>G (p.Val3748=) rs757808619 0.00010
NM_014363.6(SACS):c.1464G>A (p.Pro488=) rs375352514 0.00010
NM_014363.6(SACS):c.2409C>T (p.Ile803=) rs146198963 0.00010
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro) rs549957998 0.00010
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00010
NM_014363.6(SACS):c.5112C>T (p.Asn1704=) rs150065076 0.00010
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201 0.00010
NM_014363.6(SACS):c.5625T>C (p.Pro1875=) rs1241658594 0.00010
NM_014363.6(SACS):c.5790C>T (p.Asp1930=) rs137910940 0.00010
NM_015346.4(ZFYVE26):c.1359C>T (p.Asn453=) rs750292711 0.00010
NM_015346.4(ZFYVE26):c.558C>T (p.His186=) rs190946830 0.00010
NM_024306.5(FA2H):c.786+7G>A rs368669121 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_001012301.4(ARSI):c.381C>T (p.Asp127=) rs141802155 0.00009
NM_001012301.4(ARSI):c.789C>T (p.Tyr263=) rs201644621 0.00009
NM_004733.4(SLC33A1):c.267G>A (p.Leu89=) rs370658911 0.00009
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_004984.4(KIF5A):c.2775C>A (p.Gly925=) rs759750438 0.00009
NM_006517.5(SLC16A2):c.111T>A (p.Pro37=) rs762215475 0.00009
NM_007347.5(AP4E1):c.2380A>G (p.Arg794Gly) rs200528314 0.00009
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys) rs373478772 0.00009
NM_014363.6(SACS):c.2040C>T (p.Ser680=) rs142115704 0.00009
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014363.6(SACS):c.9610A>G (p.Lys3204Glu) rs200288861 0.00009
NM_015346.4(ZFYVE26):c.1710G>C (p.Leu570=) rs145882661 0.00009
NM_015346.4(ZFYVE26):c.4035G>T (p.Val1345=) rs374530573 0.00009
NM_015346.4(ZFYVE26):c.5484+12C>T rs200872341 0.00009
NM_015346.4(ZFYVE26):c.6135C>T (p.Ala2045=) rs146209388 0.00009
NM_015346.4(ZFYVE26):c.6339A>G (p.Leu2113=) rs764363798 0.00009
NM_015346.4(ZFYVE26):c.6762G>A (p.Leu2254=) rs747600168 0.00009
NM_015346.4(ZFYVE26):c.951C>T (p.Ala317=) rs142029189 0.00009
NM_020944.3(GBA2):c.2778A>C (p.Pro926=) rs777114371 0.00009
NM_020944.3(GBA2):c.360-6C>T rs780264254 0.00009
NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=) rs374633238 0.00009
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr) rs143913941 0.00009
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=) rs782026679 0.00008
NM_001478.5(B4GALNT1):c.491-9T>C rs1304777329 0.00008
NM_002156.5(HSPD1):c.175-7C>T rs374694909 0.00008
NM_002156.5(HSPD1):c.428-15A>G rs769110777 0.00008
NM_004820.5(CYP7B1):c.260-16C>T rs566878245 0.00008
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_004984.4(KIF5A):c.1714C>T (p.Leu572=) rs138475832 0.00008
NM_004984.4(KIF5A):c.1740C>T (p.Ile580=) rs149622711 0.00008
NM_004984.4(KIF5A):c.2672G>A (p.Arg891His) rs767911747 0.00008
NM_004984.4(KIF5A):c.3024T>C (p.Ser1008=) rs766259270 0.00008
NM_004984.4(KIF5A):c.801C>T (p.Ser267=) rs368628303 0.00008
NM_007175.8(ERLIN2):c.384C>T (p.Cys128=) rs200292614 0.00008
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423 0.00008
NM_014363.6(SACS):c.10981G>A (p.Ala3661Thr) rs760466234 0.00008
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val) rs142926244 0.00008
NM_014363.6(SACS):c.13735G>A (p.Val4579Met) rs571999908 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014363.6(SACS):c.21-5C>T rs565378672 0.00008
NM_014363.6(SACS):c.279G>A (p.Thr93=) rs373415912 0.00008
NM_014363.6(SACS):c.9246T>C (p.Cys3082=) rs199696650 0.00008
NM_015346.4(ZFYVE26):c.4974+5G>A rs757204134 0.00008
NM_015346.4(ZFYVE26):c.5112G>A (p.Leu1704=) rs200196596 0.00008
NM_015346.4(ZFYVE26):c.684C>T (p.Pro228=) rs369761894 0.00008
NM_020435.4(GJC2):c.1057C>T (p.Leu353=) rs750932850 0.00008
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) rs200561489 0.00007
NM_001278116.2(L1CAM):c.232C>T (p.Pro78Ser) rs144542429 0.00007
NM_001478.5(B4GALNT1):c.1029C>G (p.Ala343=) rs762519517 0.00007
NM_001478.5(B4GALNT1):c.384-4C>T rs542474280 0.00007
NM_001478.5(B4GALNT1):c.727G>A (p.Glu243Lys) rs768739099 0.00007
NM_004187.5(KDM5C):c.2493A>G (p.Gly831=) rs1279367848 0.00007
NM_004187.5(KDM5C):c.3533C>T (p.Ser1178Leu) rs370672146 0.00007
NM_004984.4(KIF5A):c.1926G>A (p.Ser642=) rs377649745 0.00007
NM_004984.4(KIF5A):c.2262C>T (p.Ser754=) rs143260492 0.00007
NM_004984.4(KIF5A):c.2955C>T (p.Gly985=) rs202074843 0.00007
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.12582T>C (p.Tyr4194=) rs1002489210 0.00007
NM_014363.6(SACS):c.3975G>A (p.Glu1325=) rs547483320 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu) rs370095300 0.00007
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly) rs9552930 0.00007
NM_014363.6(SACS):c.8646T>C (p.His2882=) rs374508473 0.00007
NM_015346.4(ZFYVE26):c.1089G>A (p.Arg363=) rs375381402 0.00007
NM_015346.4(ZFYVE26):c.1260A>C (p.Ile420=) rs762843838 0.00007
NM_015346.4(ZFYVE26):c.5865T>C (p.Ile1955=) rs145652212 0.00007
NM_015346.4(ZFYVE26):c.6589-17G>A rs185888528 0.00007
NM_015346.4(ZFYVE26):c.6789C>T (p.Asp2263=) rs372463199 0.00007
NM_015346.4(ZFYVE26):c.991A>G (p.Asn331Asp) rs199630965 0.00007
NM_020944.3(GBA2):c.1995C>A (p.Leu665=) rs139510090 0.00007
NM_024306.5(FA2H):c.733G>A (p.Asp245Asn) rs201126702 0.00007
NM_183075.3(CYP2U1):c.1116C>T (p.Pro372=) rs373823906 0.00007
NM_001012301.4(ARSI):c.567C>T (p.Cys189=) rs112533194 0.00006
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001385875.1(ZFYVE27):c.717A>G (p.Glu239=) rs753246302 0.00006
NM_001478.5(B4GALNT1):c.432G>A (p.Pro144=) rs144076705 0.00006
NM_002156.5(HSPD1):c.819A>T (p.Ile273=) rs376584082 0.00006
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=) rs373931846 0.00006
NM_004820.5(CYP7B1):c.122+8C>T rs759732698 0.00006
NM_004820.5(CYP7B1):c.204G>A (p.Arg68=) rs377119798 0.00006
NM_004820.5(CYP7B1):c.543T>C (p.Tyr181=) rs367723235 0.00006
NM_004984.4(KIF5A):c.1090G>A (p.Glu364Lys) rs371335708 0.00006
NM_004984.4(KIF5A):c.1173C>T (p.Ala391=) rs780381269 0.00006
NM_004984.4(KIF5A):c.2472C>T (p.His824=) rs201743611 0.00006
NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser) rs371548640 0.00006
NM_004984.4(KIF5A):c.894G>A (p.Thr298=) rs763135764 0.00006
NM_005619.5(RTN2):c.1068G>A (p.Thr356=) rs370997046 0.00006
NM_005619.5(RTN2):c.327G>A (p.Leu109=) rs144198343 0.00006
NM_007175.8(ERLIN2):c.219T>C (p.Asn73=) rs377044758 0.00006
NM_007175.8(ERLIN2):c.557+10C>T rs376022913 0.00006
NM_007175.8(ERLIN2):c.820-17T>G rs1311010843 0.00006
NM_007347.5(AP4E1):c.1459T>C (p.Leu487=) rs766895434 0.00006
NM_007347.5(AP4E1):c.702+9G>C rs371073598 0.00006
NM_007347.5(AP4E1):c.723A>G (p.Lys241=) rs544897969 0.00006
NM_014231.5(VAMP1):c.340+9C>T rs771796946 0.00006
NM_014363.6(SACS):c.10042T>C (p.Leu3348=) rs529925586 0.00006
NM_014363.6(SACS):c.10047A>G (p.Ser3349=) rs138909482 0.00006
NM_014363.6(SACS):c.10709T>C (p.Ile3570Thr) rs763440838 0.00006
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg) rs1299454627 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014363.6(SACS):c.11091C>T (p.Leu3697=) rs369430972 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779 0.00006
NM_014363.6(SACS):c.11746T>C (p.Leu3916=) rs370087920 0.00006
NM_014363.6(SACS):c.11781G>A (p.Ala3927=) rs369998705 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn) rs371935764 0.00006
NM_014363.6(SACS):c.1881G>A (p.Thr627=) rs148398102 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088 0.00006
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=) rs200350631 0.00006
NM_014363.6(SACS):c.4244C>T (p.Ser1415Phe) rs756436405 0.00006
NM_014363.6(SACS):c.446C>T (p.Ala149Val) rs370474035 0.00006
NM_014363.6(SACS):c.4743C>T (p.Phe1581=) rs143310473 0.00006
NM_014363.6(SACS):c.5529G>C (p.Leu1843=) rs148091738 0.00006
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511 0.00006
NM_014363.6(SACS):c.6889T>C (p.Leu2297=) rs762976734 0.00006
NM_014363.6(SACS):c.8424T>C (p.Thr2808=) rs149961028 0.00006
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_014363.6(SACS):c.954A>G (p.Leu318=) rs147412202 0.00006
NM_014363.6(SACS):c.9551G>A (p.Arg3184His) rs200453385 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_015346.4(ZFYVE26):c.2097C>A (p.Ile699=) rs142972003 0.00006
NM_015346.4(ZFYVE26):c.2253G>A (p.Glu751=) rs373115983 0.00006
NM_015346.4(ZFYVE26):c.2538C>T (p.Phe846=) rs374527998 0.00006
NM_015346.4(ZFYVE26):c.2859A>T (p.Leu953=) rs189616103 0.00006
NM_015346.4(ZFYVE26):c.3020-18T>C rs537109323 0.00006
NM_015346.4(ZFYVE26):c.3036C>T (p.His1012=) rs551159891 0.00006
NM_015346.4(ZFYVE26):c.4308C>T (p.Tyr1436=) rs369590424 0.00006
NM_015346.4(ZFYVE26):c.4473G>A (p.Leu1491=) rs754942113 0.00006
NM_015346.4(ZFYVE26):c.5222-10C>G rs370725103 0.00006
NM_015346.4(ZFYVE26):c.7050T>C (p.Ala2350=) rs139364887 0.00006
NM_015346.4(ZFYVE26):c.747C>T (p.Thr249=) rs543334038 0.00006
NM_020944.3(GBA2):c.2574G>A (p.Leu858=) rs145866042 0.00006
NM_024306.5(FA2H):c.423C>T (p.Tyr141=) rs201250822 0.00006
NM_183075.3(CYP2U1):c.1456+8A>G rs377737033 0.00006
NM_001278116.2(L1CAM):c.1851G>A (p.Arg617=) rs149252900 0.00005
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_004187.5(KDM5C):c.3295C>T (p.Leu1099=) rs143471137 0.00005
NM_004187.5(KDM5C):c.4665G>A (p.Pro1555=) rs370930723 0.00005
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004820.5(CYP7B1):c.122+11C>A rs188892701 0.00005
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00005
NM_004984.4(KIF5A):c.1947C>T (p.Ser649=) rs772609896 0.00005
NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln) rs554894381 0.00005
NM_004984.4(KIF5A):c.396+13C>T rs377008480 0.00005
NM_005619.5(RTN2):c.79G>A (p.Gly27Arg) rs561968273 0.00005
NM_006517.5(SLC16A2):c.194C>G (p.Pro65Arg) rs748528906 0.00005
NM_007347.5(AP4E1):c.42A>G (p.Gly14=) rs143027953 0.00005
NM_014231.5(VAMP1):c.2+12C>T rs200404061 0.00005
NM_014363.6(SACS):c.10980C>T (p.Pro3660=) rs141353693 0.00005
NM_014363.6(SACS):c.11363G>A (p.Arg3788His) rs147369196 0.00005
NM_014363.6(SACS):c.11763C>T (p.Ile3921=) rs749093421 0.00005
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu) rs746953932 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014363.6(SACS):c.12744T>C (p.Pro4248=) rs369378277 0.00005
NM_014363.6(SACS):c.13039A>G (p.Ile4347Val) rs200939906 0.00005
NM_014363.6(SACS):c.1613C>T (p.Ala538Val) rs368043113 0.00005
NM_014363.6(SACS):c.3729A>G (p.Glu1243=) rs756663705 0.00005
NM_014363.6(SACS):c.396A>G (p.Leu132=) rs1256540997 0.00005
NM_014363.6(SACS):c.4362A>G (p.Ser1454=) rs748395013 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg) rs199998045 0.00005
NM_014363.6(SACS):c.51C>T (p.Cys17=) rs763979020 0.00005
NM_014363.6(SACS):c.7042C>T (p.Leu2348=) rs919827837 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_015346.4(ZFYVE26):c.2712T>C (p.Ser904=) rs755854107 0.00005
NM_015346.4(ZFYVE26):c.2724T>A (p.Thr908=) rs150063715 0.00005
NM_015346.4(ZFYVE26):c.2756-7C>T rs200721800 0.00005
NM_015346.4(ZFYVE26):c.4570-6C>T rs551233958 0.00005
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_020435.4(GJC2):c.417C>A (p.Ala139=) rs939165968 0.00005
NM_020435.4(GJC2):c.84C>A (p.Leu28=) rs747205319 0.00005
NM_024306.5(FA2H):c.924C>T (p.Tyr308=) rs780860426 0.00005
NM_024306.5(FA2H):c.96C>T (p.Arg32=) rs1012042641 0.00005
NM_183075.3(CYP2U1):c.1572G>A (p.Leu524=) rs373549777 0.00005
NM_001128126.3(AP4S1):c.306+4190A>G rs374600997 0.00004
NM_001278116.2(L1CAM):c.1704-5C>T rs200415748 0.00004
NM_001278116.2(L1CAM):c.1786G>A (p.Glu596Lys) rs137940405 0.00004
NM_001278116.2(L1CAM):c.2370C>T (p.Ala790=) rs145717130 0.00004
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile) rs201128366 0.00004
NM_001278116.2(L1CAM):c.3531-13C>T rs372190403 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001278116.2(L1CAM):c.992-20G>A rs782085756 0.00004
NM_001478.5(B4GALNT1):c.381G>A (p.Ser127=) rs201294297 0.00004
NM_001478.5(B4GALNT1):c.828C>T (p.Ser276=) rs750756456 0.00004
NM_002156.5(HSPD1):c.108C>T (p.Ala36=) rs764224635 0.00004
NM_002156.5(HSPD1):c.855A>T (p.Thr285=) rs777390686 0.00004
NM_004733.4(SLC33A1):c.1602G>A (p.Lys534=) rs757490105 0.00004
NM_004820.5(CYP7B1):c.1233+16G>A rs1324162377 0.00004
NM_004820.5(CYP7B1):c.142T>C (p.Leu48=) rs767850063 0.00004
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00004
NM_004820.5(CYP7B1):c.850+18A>T rs374380529 0.00004
NM_004984.4(KIF5A):c.1083G>A (p.Ala361=) rs528282741 0.00004
NM_004984.4(KIF5A):c.1142G>A (p.Arg381His) rs755855553 0.00004
NM_004984.4(KIF5A):c.1195G>A (p.Val399Met) rs908820800 0.00004
NM_004984.4(KIF5A):c.1230G>A (p.Ala410=) rs753565345 0.00004
NM_004984.4(KIF5A):c.1437C>T (p.Ala479=) rs369229819 0.00004
NM_004984.4(KIF5A):c.2023+7C>T rs757331201 0.00004
NM_004984.4(KIF5A):c.2433+14T>C rs376614388 0.00004
NM_004984.4(KIF5A):c.2781C>T (p.Tyr927=) rs767928175 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_004984.4(KIF5A):c.292-14C>A rs778921032 0.00004
NM_004984.4(KIF5A):c.381T>A (p.Leu127=) rs140832607 0.00004
NM_004984.4(KIF5A):c.483C>T (p.Asn161=) rs371542028 0.00004
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) rs140144799 0.00004
NM_004984.4(KIF5A):c.660G>A (p.Thr220=) rs762824969 0.00004
NM_005619.5(RTN2):c.1476C>G (p.Pro492=) rs748824542 0.00004
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) rs145653668 0.00004
NM_006517.5(SLC16A2):c.1500G>C (p.Met500Ile) rs746802653 0.00004
NM_007347.5(AP4E1):c.1177-14T>C rs760402257 0.00004
NM_007347.5(AP4E1):c.1316+19C>G rs191927941 0.00004
NM_007347.5(AP4E1):c.195G>T (p.Ala65=) rs376597376 0.00004
NM_007347.5(AP4E1):c.2745C>T (p.His915=) rs780821809 0.00004
NM_007347.5(AP4E1):c.703-13C>T rs969860132 0.00004
NM_014363.6(SACS):c.10098T>C (p.His3366=) rs150213486 0.00004
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile) rs200591364 0.00004
NM_014363.6(SACS):c.10119A>G (p.Thr3373=) rs202084381 0.00004
NM_014363.6(SACS):c.10497C>T (p.Tyr3499=) rs755186798 0.00004
NM_014363.6(SACS):c.10576A>G (p.Ile3526Val) rs199881455 0.00004
NM_014363.6(SACS):c.11049T>C (p.Asn3683=) rs773770705 0.00004
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser) rs780789569 0.00004
NM_014363.6(SACS):c.11276C>T (p.Thr3759Met) rs751176093 0.00004
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn) rs762041995 0.00004
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410 0.00004
NM_014363.6(SACS):c.11655C>T (p.Phe3885=) rs780904104 0.00004
NM_014363.6(SACS):c.12297G>T (p.Leu4099=) rs200793339 0.00004
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu) rs150225486 0.00004
NM_014363.6(SACS):c.12969G>A (p.Ser4323=) rs745807927 0.00004
NM_014363.6(SACS):c.13443C>G (p.Thr4481=) rs201439638 0.00004
NM_014363.6(SACS):c.134C>T (p.Pro45Leu) rs1033188876 0.00004
NM_014363.6(SACS):c.1387C>A (p.His463Asn) rs149951538 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1640C>T (p.Pro547Leu) rs140507581 0.00004
NM_014363.6(SACS):c.1641G>A (p.Pro547=) rs370143541 0.00004
NM_014363.6(SACS):c.1815A>G (p.Pro605=) rs377649927 0.00004
NM_014363.6(SACS):c.1905G>A (p.Leu635=) rs771581634 0.00004
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr) rs778572943 0.00004
NM_014363.6(SACS):c.2653T>C (p.Leu885=) rs202075357 0.00004
NM_014363.6(SACS):c.2927G>A (p.Arg976His) rs751415868 0.00004
NM_014363.6(SACS):c.321T>C (p.Tyr107=) rs370370098 0.00004
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) rs374961109 0.00004
NM_014363.6(SACS):c.3771A>T (p.Gly1257=) rs761920446 0.00004
NM_014363.6(SACS):c.3825T>C (p.Phe1275=) rs371761945 0.00004
NM_014363.6(SACS):c.4050A>G (p.Gln1350=) rs756014483 0.00004
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val) rs138245586 0.00004
NM_014363.6(SACS):c.458-17C>T rs765491872 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472 0.00004
NM_014363.6(SACS):c.5971G>A (p.Val1991Ile) rs191995849 0.00004
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841 0.00004
NM_014363.6(SACS):c.6095C>T (p.Ser2032Leu) rs551141655 0.00004
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040 0.00004
NM_014363.6(SACS):c.6447T>C (p.Val2149=) rs373110459 0.00004
NM_014363.6(SACS):c.6879T>C (p.Val2293=) rs761370882 0.00004
NM_014363.6(SACS):c.7147C>T (p.Arg2383Cys) rs772611372 0.00004
NM_014363.6(SACS):c.7449T>C (p.Tyr2483=) rs755218751 0.00004
NM_014363.6(SACS):c.7650T>G (p.Leu2550=) rs764887405 0.00004
NM_014363.6(SACS):c.7989C>T (p.Pro2663=) rs766086455 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) rs749327297 0.00004
NM_014363.6(SACS):c.8634G>C (p.Gly2878=) rs745677991 0.00004
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177 0.00004
NM_014363.6(SACS):c.9090A>G (p.Leu3030=) rs754628665 0.00004
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr) rs149290718 0.00004
NM_014363.6(SACS):c.9378A>G (p.Leu3126=) rs749919322 0.00004
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly) rs369713918 0.00004
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro) rs775506976 0.00004
NM_015346.4(ZFYVE26):c.1068C>T (p.Cys356=) rs368231190 0.00004
NM_015346.4(ZFYVE26):c.1446T>C (p.Asp482=) rs1271595969 0.00004
NM_015346.4(ZFYVE26):c.2589T>C (p.Ser863=) rs764971003 0.00004
NM_015346.4(ZFYVE26):c.2682G>A (p.Ala894=) rs375046805 0.00004
NM_015346.4(ZFYVE26):c.2781C>T (p.Asp927=) rs573157419 0.00004
NM_015346.4(ZFYVE26):c.2853G>A (p.Thr951=) rs765380018 0.00004
NM_015346.4(ZFYVE26):c.2865G>A (p.Glu955=) rs754092664 0.00004
NM_015346.4(ZFYVE26):c.3381G>A (p.Val1127=) rs559649836 0.00004
NM_015346.4(ZFYVE26):c.3524-10A>G rs781088083 0.00004
NM_015346.4(ZFYVE26):c.3780C>T (p.His1260=) rs749435914 0.00004
NM_015346.4(ZFYVE26):c.411C>T (p.Asp137=) rs199604823 0.00004
NM_015346.4(ZFYVE26):c.4125G>A (p.Glu1375=) rs374188915 0.00004
NM_015346.4(ZFYVE26):c.4956G>A (p.Ala1652=) rs201010656 0.00004
NM_015346.4(ZFYVE26):c.4974+9A>G rs368073585 0.00004
NM_015346.4(ZFYVE26):c.540C>T (p.Asp180=) rs150289689 0.00004
NM_015346.4(ZFYVE26):c.575C>A (p.Ala192Glu) rs369886014 0.00004
NM_015346.4(ZFYVE26):c.6160-13A>G rs759043669 0.00004
NM_015346.4(ZFYVE26):c.6195G>A (p.Ala2065=) rs148139928 0.00004
NM_015346.4(ZFYVE26):c.6252G>A (p.Glu2084=) rs770536914 0.00004
NM_015346.4(ZFYVE26):c.6342G>A (p.Glu2114=) rs546006740 0.00004
NM_015346.4(ZFYVE26):c.639G>A (p.Gly213=) rs776664801 0.00004
NM_015346.4(ZFYVE26):c.6423G>A (p.Thr2141=) rs142448052 0.00004
NM_015346.4(ZFYVE26):c.7116T>C (p.Asp2372=) rs757514981 0.00004
NM_015346.4(ZFYVE26):c.7128+12G>A rs199517648 0.00004
NM_015346.4(ZFYVE26):c.7128+17A>T rs370755806 0.00004
NM_015346.4(ZFYVE26):c.828C>T (p.Gly276=) rs766703067 0.00004
NM_020435.4(GJC2):c.486C>T (p.Ala162=) rs1260532478 0.00004
NM_020435.4(GJC2):c.810T>G (p.Val270=) rs760412672 0.00004
NM_020944.3(GBA2):c.1767C>T (p.Asn589=) rs551404840 0.00004
NM_020944.3(GBA2):c.300C>G (p.Pro100=) rs202140393 0.00004
NM_183075.3(CYP2U1):c.1170A>G (p.Arg390=) rs369480165 0.00004
NM_183075.3(CYP2U1):c.696T>C (p.Ile232=) rs765631121 0.00004
NM_001278116.2(L1CAM):c.1670G>C (p.Gly557Ala) rs781845582 0.00003
NM_001278116.2(L1CAM):c.1781G>A (p.Ser594Asn) rs202107752 0.00003
NM_001278116.2(L1CAM):c.3322+11G>A rs1372534909 0.00003
NM_001278116.2(L1CAM):c.3523G>A (p.Glu1175Lys) rs1064796541 0.00003
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.990G>A (p.Glu330=) rs200004370 0.00003
NM_001385875.1(ZFYVE27):c.340C>T (p.Arg114Trp) rs374171984 0.00003
NM_002156.5(HSPD1):c.1614G>C (p.Leu538=) rs748662234 0.00003
NM_002156.5(HSPD1):c.175-8T>C rs772029212 0.00003
NM_002156.5(HSPD1):c.511-18G>A rs765859683 0.00003
NM_004820.5(CYP7B1):c.1008A>T (p.Gly336=) rs1229194379 0.00003
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_004984.4(KIF5A):c.1167G>A (p.Leu389=) rs758700375 0.00003
NM_004984.4(KIF5A):c.1233C>T (p.Pro411=) rs757235645 0.00003
NM_004984.4(KIF5A):c.1251C>T (p.Tyr417=) rs780256557 0.00003
NM_004984.4(KIF5A):c.1390G>A (p.Glu464Lys) rs962405110 0.00003
NM_004984.4(KIF5A):c.159C>T (p.Phe53=) rs536777412 0.00003
NM_004984.4(KIF5A):c.1620T>C (p.Ser540=) rs1307744841 0.00003
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702 0.00003
NM_004984.4(KIF5A):c.2146C>T (p.Arg716Trp) rs377539747 0.00003
NM_004984.4(KIF5A):c.2248G>A (p.Glu750Lys) rs1218452123 0.00003
NM_004984.4(KIF5A):c.2289G>A (p.Leu763=) rs377232772 0.00003
NM_004984.4(KIF5A):c.2782C>T (p.Pro928Ser) rs1163611256 0.00003
NM_004984.4(KIF5A):c.292-6C>T rs369913032 0.00003
NM_004984.4(KIF5A):c.2926A>G (p.Thr976Ala) rs146406013 0.00003
NM_004984.4(KIF5A):c.2992+18G>T rs745773241 0.00003
NM_004984.4(KIF5A):c.425A>G (p.Lys142Arg) rs758987045 0.00003
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647 0.00003
NM_004984.4(KIF5A):c.846C>T (p.Ser282=) rs149888065 0.00003
NM_005619.5(RTN2):c.1037C>T (p.Ala346Val) rs1176639498 0.00003
NM_005619.5(RTN2):c.1209C>T (p.Ala403=) rs140427245 0.00003
NM_005619.5(RTN2):c.1239C>T (p.Phe413=) rs917119159 0.00003
NM_005619.5(RTN2):c.1325C>T (p.Ala442Val) rs201863499 0.00003
NM_006517.5(SLC16A2):c.147C>G (p.Pro49=) rs1320434227 0.00003
NM_007175.8(ERLIN2):c.366C>T (p.His122=) rs374568375 0.00003
NM_007347.5(AP4E1):c.1083C>T (p.Thr361=) rs376935620 0.00003
NM_007347.5(AP4E1):c.1429+12A>C rs768941074 0.00003
NM_007347.5(AP4E1):c.1429+9A>G rs201037776 0.00003
NM_007347.5(AP4E1):c.2250A>G (p.Gln750=) rs749255552 0.00003
NM_007347.5(AP4E1):c.3095+7G>A rs375990430 0.00003
NM_007347.5(AP4E1):c.399C>G (p.Leu133=) rs754675487 0.00003
NM_007347.5(AP4E1):c.459A>C (p.Ala153=) rs184712259 0.00003
NM_007347.5(AP4E1):c.573A>T (p.Ala191=) rs368895241 0.00003
NM_007347.5(AP4E1):c.975T>C (p.Tyr325=) rs776281271 0.00003
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser) rs375898103 0.00003
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990 0.00003
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys) rs765758197 0.00003
NM_014363.6(SACS):c.10268T>C (p.Ile3423Thr) rs767281295 0.00003
NM_014363.6(SACS):c.10620C>T (p.Phe3540=) rs192339917 0.00003
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe) rs755172172 0.00003
NM_014363.6(SACS):c.11280G>A (p.Thr3760=) rs193116488 0.00003
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly) rs1170997950 0.00003
NM_014363.6(SACS):c.11343T>C (p.Ser3781=) rs372697823 0.00003
NM_014363.6(SACS):c.12665G>A (p.Gly4222Glu) rs774349752 0.00003
NM_014363.6(SACS):c.12909A>G (p.Leu4303=) rs766310291 0.00003
NM_014363.6(SACS):c.13338A>G (p.Glu4446=) rs776796928 0.00003
NM_014363.6(SACS):c.135G>C (p.Pro45=) rs532332781 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014363.6(SACS):c.147G>A (p.Gln49=) rs747237629 0.00003
NM_014363.6(SACS):c.159C>G (p.Arg53=) rs968138431 0.00003
NM_014363.6(SACS):c.1797G>A (p.Lys599=) rs746842075 0.00003
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057 0.00003
NM_014363.6(SACS):c.1887G>T (p.Ala629=) rs772895627 0.00003
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905 0.00003
NM_014363.6(SACS):c.2460C>T (p.Leu820=) rs761330691 0.00003
NM_014363.6(SACS):c.259+9T>C rs780820263 0.00003
NM_014363.6(SACS):c.260-10C>T rs746220432 0.00003
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511 0.00003
NM_014363.6(SACS):c.3105A>G (p.Thr1035=) rs1176829935 0.00003
NM_014363.6(SACS):c.3393C>T (p.Leu1131=) rs543758739 0.00003
NM_014363.6(SACS):c.4098G>C (p.Leu1366=) rs200381539 0.00003
NM_014363.6(SACS):c.4419A>C (p.Ser1473=) rs375061528 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.5458C>T (p.Leu1820=) rs754748296 0.00003
NM_014363.6(SACS):c.552T>G (p.Pro184=) rs140637560 0.00003
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn) rs772515267 0.00003
NM_014363.6(SACS):c.5946A>G (p.Gly1982=) rs746358078 0.00003
NM_014363.6(SACS):c.6135A>T (p.Ile2045=) rs532996087 0.00003
NM_014363.6(SACS):c.6728C>T (p.Thr2243Ile) rs749102723 0.00003
NM_014363.6(SACS):c.6750T>C (p.His2250=) rs771083587 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014363.6(SACS):c.7632A>G (p.Glu2544=) rs752179231 0.00003
NM_014363.6(SACS):c.7824A>G (p.Gly2608=) rs765747016 0.00003
NM_014363.6(SACS):c.789C>T (p.Asn263=) rs771920263 0.00003
NM_014363.6(SACS):c.7968A>C (p.Pro2656=) rs748718131 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439 0.00003
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_014363.6(SACS):c.9283C>G (p.Pro3095Ala) rs201899988 0.00003
NM_014363.6(SACS):c.93G>T (p.Val31=) rs1235785042 0.00003
NM_014363.6(SACS):c.9887C>T (p.Pro3296Leu) rs779195622 0.00003
NM_015346.4(ZFYVE26):c.12A>G (p.Pro4=) rs771176360 0.00003
NM_015346.4(ZFYVE26):c.1410A>G (p.Pro470=) rs200601644 0.00003
NM_015346.4(ZFYVE26):c.1435+8G>A rs779576115 0.00003
NM_015346.4(ZFYVE26):c.147G>A (p.Arg49=) rs756229464 0.00003
NM_015346.4(ZFYVE26):c.2397G>A (p.Thr799=) rs146003951 0.00003
NM_015346.4(ZFYVE26):c.249G>T (p.Leu83=) rs199674363 0.00003
NM_015346.4(ZFYVE26):c.2922A>G (p.Ala974=) rs1482177785 0.00003
NM_015346.4(ZFYVE26):c.3483C>G (p.Thr1161=) rs373253472 0.00003
NM_015346.4(ZFYVE26):c.3498C>T (p.Leu1166=) rs766483153 0.00003
NM_015346.4(ZFYVE26):c.3524-8C>T rs754951927 0.00003
NM_015346.4(ZFYVE26):c.3849A>G (p.Thr1283=) rs200123452 0.00003
NM_015346.4(ZFYVE26):c.3909T>C (p.Ser1303=) rs147231904 0.00003
NM_015346.4(ZFYVE26):c.403G>A (p.Val135Met) rs771937001 0.00003
NM_015346.4(ZFYVE26):c.4323C>T (p.Asp1441=) rs751803624 0.00003
NM_015346.4(ZFYVE26):c.4794G>T (p.Leu1598=) rs372337960 0.00003
NM_015346.4(ZFYVE26):c.4863C>T (p.His1621=) rs765148518 0.00003
NM_015346.4(ZFYVE26):c.5568C>T (p.Cys1856=) rs772482784 0.00003
NM_015346.4(ZFYVE26):c.5955C>T (p.Ser1985=) rs750847486 0.00003
NM_015346.4(ZFYVE26):c.5958C>T (p.Ala1986=) rs371142658 0.00003
NM_015346.4(ZFYVE26):c.630G>A (p.Val210=) rs769763847 0.00003
NM_015346.4(ZFYVE26):c.6456G>C (p.Gly2152=) rs140345788 0.00003
NM_015346.4(ZFYVE26):c.6846T>C (p.Tyr2282=) rs752726358 0.00003
NM_015346.4(ZFYVE26):c.6876A>G (p.Leu2292=) rs773663147 0.00003
NM_015346.4(ZFYVE26):c.7278C>G (p.Leu2426=) rs773532707 0.00003
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=) rs147321202 0.00003
NM_015346.4(ZFYVE26):c.732A>G (p.Leu244=) rs372055478 0.00003
NM_015346.4(ZFYVE26):c.987C>T (p.Ser329=) rs761049302 0.00003
NM_020435.4(GJC2):c.291C>T (p.Tyr97=) rs202209462 0.00003
NM_020435.4(GJC2):c.408T>C (p.Pro136=) rs1226490782 0.00003
NM_020944.3(GBA2):c.840C>T (p.Asp280=) rs372070908 0.00003
NM_024306.5(FA2H):c.1071C>T (p.Tyr357=) rs558457701 0.00003
NM_024306.5(FA2H):c.531G>A (p.Val177=) rs775888031 0.00003
NM_024306.5(FA2H):c.675C>G (p.Leu225=) rs371803211 0.00003
NM_183075.3(CYP2U1):c.417G>A (p.Ala139=) rs773648558 0.00003
NM_001012301.4(ARSI):c.1575T>C (p.Ser525=) rs1413488427 0.00002
NM_001278116.2(L1CAM):c.1148G>A (p.Arg383Gln) rs782254209 0.00002
NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys) rs782756293 0.00002
NM_001278116.2(L1CAM):c.1413C>T (p.Asp471=) rs570097458 0.00002
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp) rs1298830102 0.00002
NM_001278116.2(L1CAM):c.1481G>A (p.Arg494His) rs782038855 0.00002
NM_001278116.2(L1CAM):c.1704-4G>A rs1403032493 0.00002
NM_001278116.2(L1CAM):c.1894C>T (p.Arg632Cys) rs782367123 0.00002
NM_001278116.2(L1CAM):c.2057C>A (p.Thr686Asn) rs201371159 0.00002
NM_001278116.2(L1CAM):c.2565G>T (p.Glu855Asp) rs1486944844 0.00002
NM_001278116.2(L1CAM):c.3290G>A (p.Arg1097Gln) rs374569140 0.00002
NM_001278116.2(L1CAM):c.400+10G>A rs368970579 0.00002
NM_001278116.2(L1CAM):c.401-16C>T rs782088649 0.00002
NM_001278116.2(L1CAM):c.401-7C>G rs1424993007 0.00002
NM_001278116.2(L1CAM):c.870C>T (p.Tyr290=) rs782720258 0.00002
NM_001385875.1(ZFYVE27):c.1172-20A>G rs777028977 0.00002
NM_001478.5(B4GALNT1):c.1311C>T (p.Asn437=) rs749032499 0.00002
NM_001478.5(B4GALNT1):c.816G>A (p.Gln272=) rs757759713 0.00002
NM_001478.5(B4GALNT1):c.822C>T (p.Asn274=) rs1280525313 0.00002
NM_002156.5(HSPD1):c.1272C>T (p.Ala424=) rs1402469498 0.00002
NM_002156.5(HSPD1):c.195G>A (p.Glu65=) rs774204945 0.00002
NM_002156.5(HSPD1):c.420C>T (p.Ile140=) rs773769774 0.00002
NM_002156.5(HSPD1):c.519G>A (p.Thr173=) rs764674576 0.00002
NM_002156.5(HSPD1):c.750A>G (p.Lys250=) rs780546992 0.00002
NM_004187.5(KDM5C):c.1584-16T>A rs782194913 0.00002
NM_004187.5(KDM5C):c.2178C>T (p.Asp726=) rs375715339 0.00002
NM_004187.5(KDM5C):c.2337G>A (p.Val779=) rs1486904196 0.00002
NM_004187.5(KDM5C):c.2483G>A (p.Arg828Gln) rs782645850 0.00002
NM_004187.5(KDM5C):c.2502C>T (p.Ser834=) rs1225989550 0.00002
NM_004187.5(KDM5C):c.3956C>A (p.Pro1319His) rs782709978 0.00002
NM_004187.5(KDM5C):c.861G>A (p.Ser287=) rs61751238 0.00002
NM_004733.4(SLC33A1):c.1149-4A>G rs773106675 0.00002
NM_004733.4(SLC33A1):c.1287T>C (p.Tyr429=) rs747300088 0.00002
NM_004733.4(SLC33A1):c.972T>C (p.Phe324=) rs139561128 0.00002
NM_004820.5(CYP7B1):c.1146C>T (p.Thr382=) rs372814474 0.00002
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_004820.5(CYP7B1):c.135G>A (p.Glu45=) rs753231826 0.00002
NM_004820.5(CYP7B1):c.987A>G (p.Thr329=) rs768442659 0.00002
NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met) rs774586838 0.00002
NM_004984.4(KIF5A):c.1164C>A (p.Ala388=) rs745882021 0.00002
NM_004984.4(KIF5A):c.1200T>C (p.Asn400=) rs748756540 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.1227C>T (p.Ile409=) rs775172912 0.00002
NM_004984.4(KIF5A):c.1287C>T (p.Asp429=) rs760382029 0.00002
NM_004984.4(KIF5A):c.1293+15G>A rs200594693 0.00002
NM_004984.4(KIF5A):c.1329G>A (p.Glu443=) rs1432671074 0.00002
NM_004984.4(KIF5A):c.1651C>G (p.Leu551Val) rs147493358 0.00002
NM_004984.4(KIF5A):c.1869G>A (p.Gly623=) rs781063689 0.00002
NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp) rs748248329 0.00002
NM_004984.4(KIF5A):c.1995C>T (p.Ser665=) rs368783789 0.00002
NM_004984.4(KIF5A):c.1996G>A (p.Asp666Asn) rs1398974670 0.00002
NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln) rs1360689553 0.00002
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00002
NM_004984.4(KIF5A):c.2198+19G>A rs932182752 0.00002
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys) rs387907286 0.00002
NM_004984.4(KIF5A):c.2310C>T (p.Tyr770=) rs919085412 0.00002
NM_004984.4(KIF5A):c.2433+16G>C rs770467123 0.00002
NM_004984.4(KIF5A):c.2538+8T>G rs377005699 0.00002
NM_004984.4(KIF5A):c.2553T>C (p.Asn851=) rs370062689 0.00002
NM_004984.4(KIF5A):c.2557G>A (p.Asp853Asn) rs780457980 0.00002
NM_004984.4(KIF5A):c.2655C>T (p.Gly885=) rs1007236664 0.00002
NM_004984.4(KIF5A):c.2727G>A (p.Ser909=) rs756801243 0.00002
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110 0.00002
NM_004984.4(KIF5A):c.510T>G (p.Thr170=) rs369289917 0.00002
NM_004984.4(KIF5A):c.567A>G (p.Ser189=) rs761592339 0.00002
NM_004984.4(KIF5A):c.876C>T (p.Leu292=) rs560367645 0.00002
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00002
NM_006517.5(SLC16A2):c.528G>A (p.Ala176=) rs752683380 0.00002
NM_006517.5(SLC16A2):c.603C>T (p.Tyr201=) rs771619069 0.00002
NM_007175.8(ERLIN2):c.425-8T>C rs966254756 0.00002
NM_007175.8(ERLIN2):c.687C>T (p.Tyr229=) rs528363730 0.00002
NM_007347.5(AP4E1):c.1067-12C>T rs374764213 0.00002
NM_007347.5(AP4E1):c.1290C>T (p.Val430=) rs767875770 0.00002
NM_007347.5(AP4E1):c.2175T>C (p.Asp725=) rs765775777 0.00002
NM_007347.5(AP4E1):c.2193T>C (p.Pro731=) rs201935060 0.00002
NM_007347.5(AP4E1):c.2712A>T (p.Ser904=) rs183009636 0.00002
NM_007347.5(AP4E1):c.2844T>C (p.Asn948=) rs781529748 0.00002
NM_007347.5(AP4E1):c.3123T>C (p.Phe1041=) rs778926865 0.00002
NM_007347.5(AP4E1):c.944-14G>T rs1361257196 0.00002
NM_014231.5(VAMP1):c.3-6C>T rs749846681 0.00002
NM_014363.6(SACS):c.1032G>A (p.Glu344=) rs199890147 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys) rs747013127 0.00002
NM_014363.6(SACS):c.10659T>C (p.Pro3553=) rs1161865880 0.00002
NM_014363.6(SACS):c.10824T>C (p.Ser3608=) rs565066396 0.00002
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser) rs376188585 0.00002
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr) rs781590547 0.00002
NM_014363.6(SACS):c.11484A>G (p.Leu3828=) rs747807250 0.00002
NM_014363.6(SACS):c.11664A>G (p.Leu3888=) rs752876736 0.00002
NM_014363.6(SACS):c.11775C>T (p.Asp3925=) rs779948707 0.00002
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn) rs756252903 0.00002
NM_014363.6(SACS):c.12282A>G (p.Lys4094=) rs1405259528 0.00002
NM_014363.6(SACS):c.12G>A (p.Lys4=) rs773980923 0.00002
NM_014363.6(SACS):c.13152A>G (p.Ala4384=) rs745989305 0.00002
NM_014363.6(SACS):c.13195A>G (p.Thr4399Ala) rs764686360 0.00002
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) rs375722463 0.00002
NM_014363.6(SACS):c.1470C>A (p.Ala490=) rs778987108 0.00002
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179 0.00002
NM_014363.6(SACS):c.1608G>A (p.Pro536=) rs745730439 0.00002
NM_014363.6(SACS):c.1620A>G (p.Lys540=) rs758634289 0.00002
NM_014363.6(SACS):c.1731C>G (p.Phe577Leu) rs757746157 0.00002
NM_014363.6(SACS):c.1878G>T (p.Val626=) rs374010041 0.00002
NM_014363.6(SACS):c.2037C>T (p.Phe679=) rs748609446 0.00002
NM_014363.6(SACS):c.2361T>C (p.Tyr787=) rs775295825 0.00002
NM_014363.6(SACS):c.2403A>G (p.Pro801=) rs758503842 0.00002
NM_014363.6(SACS):c.2472G>A (p.Ser824=) rs554395185 0.00002
NM_014363.6(SACS):c.2586G>A (p.Pro862=) rs146383946 0.00002
NM_014363.6(SACS):c.2669A>G (p.Asn890Ser) rs376902764 0.00002
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe) rs760556327 0.00002
NM_014363.6(SACS):c.2733C>T (p.Thr911=) rs199702597 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_014363.6(SACS):c.348A>G (p.Glu116=) rs201206270 0.00002
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser) rs200831217 0.00002
NM_014363.6(SACS):c.3552A>C (p.Pro1184=) rs779784021 0.00002
NM_014363.6(SACS):c.414C>T (p.Tyr138=) rs199474695 0.00002
NM_014363.6(SACS):c.4599A>C (p.Ser1533=) rs1329953828 0.00002
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr) rs770007806 0.00002
NM_014363.6(SACS):c.4878C>T (p.Gly1626=) rs778664565 0.00002
NM_014363.6(SACS):c.4955A>G (p.Gln1652Arg) rs148824690 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360 0.00002
NM_014363.6(SACS):c.5415A>G (p.Ser1805=) rs777239936 0.00002
NM_014363.6(SACS):c.5433A>G (p.Lys1811=) rs1162334138 0.00002
NM_014363.6(SACS):c.5466T>C (p.Thr1822=) rs757576348 0.00002
NM_014363.6(SACS):c.5526A>G (p.Gly1842=) rs141827449 0.00002
NM_014363.6(SACS):c.5613T>C (p.Phe1871=) rs755450922 0.00002
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln) rs772866081 0.00002
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219 0.00002
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710 0.00002
NM_014363.6(SACS):c.6201A>G (p.Glu2067=) rs781124615 0.00002
NM_014363.6(SACS):c.6222T>C (p.Asp2074=) rs751390197 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.6348C>T (p.Pro2116=) rs375619621 0.00002
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806 0.00002
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu) rs779973547 0.00002
NM_014363.6(SACS):c.7275A>G (p.Arg2425=) rs761313165 0.00002
NM_014363.6(SACS):c.7281A>C (p.Ile2427=) rs772383957 0.00002
NM_014363.6(SACS):c.7347C>A (p.Gly2449=) rs531087357 0.00002
NM_014363.6(SACS):c.7354T>C (p.Leu2452=) rs761258047 0.00002
NM_014363.6(SACS):c.7365T>C (p.Asp2455=) rs773649898 0.00002
NM_014363.6(SACS):c.7395G>A (p.Ser2465=) rs748990212 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014363.6(SACS):c.7758A>G (p.Pro2586=) rs753034117 0.00002
NM_014363.6(SACS):c.8820A>G (p.Thr2940=) rs370133588 0.00002
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys) rs759112797 0.00002
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys) rs761690372 0.00002
NM_014363.6(SACS):c.927T>C (p.Phe309=) rs1031190624 0.00002
NM_014363.6(SACS):c.9525A>G (p.Thr3175=) rs369043814 0.00002
NM_014363.6(SACS):c.9531T>C (p.Tyr3177=) rs746902834 0.00002
NM_014363.6(SACS):c.9654A>G (p.Leu3218=) rs754783325 0.00002
NM_014363.6(SACS):c.9805G>A (p.Asp3269Asn) rs754144089 0.00002
NM_014363.6(SACS):c.9927T>C (p.Ile3309=) rs773836774 0.00002
NM_015346.4(ZFYVE26):c.1297T>C (p.Leu433=) rs746330507 0.00002
NM_015346.4(ZFYVE26):c.1872A>G (p.Ala624=) rs765814690 0.00002
NM_015346.4(ZFYVE26):c.2013T>C (p.Phe671=) rs764693988 0.00002
NM_015346.4(ZFYVE26):c.2529C>T (p.Arg843=) rs537194634 0.00002
NM_015346.4(ZFYVE26):c.3783C>T (p.Ala1261=) rs756442639 0.00002
NM_015346.4(ZFYVE26):c.393A>C (p.Ala131=) rs763513526 0.00002
NM_015346.4(ZFYVE26):c.402C>T (p.His134=) rs1230979047 0.00002
NM_015346.4(ZFYVE26):c.4245G>A (p.Glu1415=) rs764073156 0.00002
NM_015346.4(ZFYVE26):c.4305G>A (p.Val1435=) rs756076114 0.00002
NM_015346.4(ZFYVE26):c.4503G>A (p.Thr1501=) rs1265607406 0.00002
NM_015346.4(ZFYVE26):c.5103C>T (p.Leu1701=) rs146148247 0.00002
NM_015346.4(ZFYVE26):c.5222-12C>G rs764707646 0.00002
NM_015346.4(ZFYVE26):c.5301C>T (p.Phe1767=) rs765887099 0.00002
NM_015346.4(ZFYVE26):c.5622-11T>C rs772119610 0.00002
NM_015346.4(ZFYVE26):c.5653+19C>T rs1379979760 0.00002
NM_015346.4(ZFYVE26):c.577C>T (p.Leu193=) rs781310266 0.00002
NM_015346.4(ZFYVE26):c.5829G>T (p.Leu1943=) rs1306037276 0.00002
NM_015346.4(ZFYVE26):c.5916C>T (p.Ala1972=) rs369820290 0.00002
NM_015346.4(ZFYVE26):c.6011+7G>A rs149860093 0.00002
NM_015346.4(ZFYVE26):c.6153C>T (p.Gly2051=) rs752653466 0.00002
NM_015346.4(ZFYVE26):c.6705A>G (p.Gly2235=) rs1394732167 0.00002
NM_015346.4(ZFYVE26):c.678T>C (p.Arg226=) rs762577403 0.00002
NM_015346.4(ZFYVE26):c.6801C>T (p.Ala2267=) rs1297257762 0.00002
NM_015346.4(ZFYVE26):c.6900G>A (p.Lys2300=) rs760161618 0.00002
NM_015346.4(ZFYVE26):c.6987-4A>C rs1373701230 0.00002
NM_015346.4(ZFYVE26):c.7029C>T (p.Phe2343=) rs764682896 0.00002
NM_015346.4(ZFYVE26):c.7189-10T>C rs781738414 0.00002
NM_015346.4(ZFYVE26):c.727C>T (p.Leu243=) rs181571 0.00002
NM_015346.4(ZFYVE26):c.7372-4A>G rs369143197 0.00002
NM_015346.4(ZFYVE26):c.7416+7G>A rs766966144 0.00002
NM_015346.4(ZFYVE26):c.813G>T (p.Leu271=) rs200977120 0.00002
NM_015346.4(ZFYVE26):c.915G>C (p.Arg305=) rs781097861 0.00002
NM_020435.4(GJC2):c.1158A>G (p.Arg386=) rs763695821 0.00002
NM_020435.4(GJC2):c.216G>T (p.Ala72=) rs747886769 0.00002
NM_020944.3(GBA2):c.1038G>A (p.Thr346=) rs760958007 0.00002
NM_020944.3(GBA2):c.1269C>T (p.Gly423=) rs779132151 0.00002
NM_024306.5(FA2H):c.786+9G>A rs752131780 0.00002
NM_024306.5(FA2H):c.90G>A (p.Gly30=) rs1301123071 0.00002
NM_183075.3(CYP2U1):c.1288+11G>T rs770399433 0.00002
NM_183075.3(CYP2U1):c.387C>T (p.Val129=) rs577594501 0.00002
NM_183075.3(CYP2U1):c.636G>A (p.Lys212=) rs748925272 0.00002
NM_001012301.4(ARSI):c.1644C>T (p.Cys548=) rs368767786 0.00001
NM_001128126.3(AP4S1):c.139-20T>C rs1479458784 0.00001
NM_001128126.3(AP4S1):c.180G>A (p.Arg60=) rs1252944335 0.00001
NM_001128126.3(AP4S1):c.210A>T (p.Gly70=) rs765484259 0.00001
NM_001128126.3(AP4S1):c.273A>G (p.Leu91=) rs1418794794 0.00001
NM_001128126.3(AP4S1):c.306+4229C>T rs1301666938 0.00001
NM_001128126.3(AP4S1):c.306+4232G>A rs745990829 0.00001
NM_001128126.3(AP4S1):c.306+4280C>T rs748041792 0.00001
NM_001128126.3(AP4S1):c.306+48T>C rs762925365 0.00001
NM_001128126.3(AP4S1):c.306+57T>C rs771062557 0.00001
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) rs1185735801 0.00001
NM_001278116.2(L1CAM):c.1161C>T (p.Gly387=) rs781909228 0.00001
NM_001278116.2(L1CAM):c.1162G>A (p.Ala388Thr) rs782570664 0.00001
NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met) rs371999853 0.00001
NM_001278116.2(L1CAM):c.1353C>T (p.Phe451=) rs1266106551 0.00001
NM_001278116.2(L1CAM):c.1389G>A (p.Glu463=) rs1161832974 0.00001
NM_001278116.2(L1CAM):c.1444C>T (p.Leu482=) rs782800846 0.00001
NM_001278116.2(L1CAM):c.1841C>T (p.Pro614Leu) rs1557091552 0.00001
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360 0.00001
NM_001278116.2(L1CAM):c.1899G>C (p.Val633=) rs781794652 0.00001
NM_001278116.2(L1CAM):c.2243T>C (p.Val748Ala) rs782331627 0.00001
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) rs201886318 0.00001
NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg) rs782097679 0.00001
NM_001278116.2(L1CAM):c.2722G>A (p.Glu908Lys) rs199822230 0.00001
NM_001278116.2(L1CAM):c.3047-20G>A rs367891075 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.3323-8A>C rs1557089873 0.00001
NM_001278116.2(L1CAM):c.3375C>T (p.Gly1125=) rs1248790030 0.00001
NM_001278116.2(L1CAM):c.3457+15C>T rs1557089768 0.00001
NM_001278116.2(L1CAM):c.3531-12G>C rs111247323 0.00001
NM_001278116.2(L1CAM):c.3543-11T>C rs782225211 0.00001
NM_001278116.2(L1CAM):c.3711G>A (p.Ala1237=) rs782576787 0.00001
NM_001278116.2(L1CAM):c.3774G>A (p.Ter1258=) rs782235888 0.00001
NM_001278116.2(L1CAM):c.524-7C>T rs1557092918 0.00001
NM_001278116.2(L1CAM):c.651G>A (p.Arg217=) rs781814457 0.00001
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) rs782615469 0.00001
NM_001278116.2(L1CAM):c.721C>T (p.Arg241Cys) rs201642622 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001385875.1(ZFYVE27):c.1074A>G (p.Ser358=) rs199770845 0.00001
NM_001385875.1(ZFYVE27):c.157C>T (p.Pro53Ser) rs748660256 0.00001
NM_001385875.1(ZFYVE27):c.552-13C>A rs200091871 0.00001
NM_001385875.1(ZFYVE27):c.639T>C (p.Phe213=) rs897824220 0.00001
NM_001385875.1(ZFYVE27):c.816G>A (p.Pro272=) rs561011837 0.00001
NM_001478.5(B4GALNT1):c.1002+18T>C rs371275752 0.00001
NM_001478.5(B4GALNT1):c.1077C>T (p.Phe359=) rs541794502 0.00001
NM_001478.5(B4GALNT1):c.1095G>A (p.Thr365=) rs749350620 0.00001
NM_001478.5(B4GALNT1):c.1384+14C>G rs775732698 0.00001
NM_001478.5(B4GALNT1):c.603G>A (p.Glu201=) rs1479807348 0.00001
NM_001478.5(B4GALNT1):c.811+9G>C rs1467099290 0.00001
NM_002156.5(HSPD1):c.1413A>G (p.Thr471=) rs1292537183 0.00001
NM_002156.5(HSPD1):c.1464T>C (p.Ser488=) rs1057524367 0.00001
NM_002156.5(HSPD1):c.318T>C (p.Asn106=) rs755970968 0.00001
NM_002156.5(HSPD1):c.427+13G>C rs377025571 0.00001
NM_002156.5(HSPD1):c.428-11C>T rs780386445 0.00001
NM_002156.5(HSPD1):c.701-13A>G rs746515365 0.00001
NM_002156.5(HSPD1):c.729T>C (p.Tyr243=) rs755577488 0.00001
NM_002156.5(HSPD1):c.869+12T>C rs781462822 0.00001
NM_002156.5(HSPD1):c.939T>C (p.Leu313=) rs1559301094 0.00001
NM_002156.5(HSPD1):c.970-6T>C rs749499239 0.00001
NM_004187.5(KDM5C):c.1146C>T (p.Ala382=) rs782060574 0.00001
NM_004187.5(KDM5C):c.1809C>T (p.Ser603=) rs782540092 0.00001
NM_004187.5(KDM5C):c.2038C>T (p.Leu680=) rs948155012 0.00001
NM_004187.5(KDM5C):c.2167G>A (p.Asp723Asn) rs781895754 0.00001
NM_004187.5(KDM5C):c.2243+17C>G rs781946857 0.00001
NM_004187.5(KDM5C):c.2721G>A (p.Arg907=) rs1391748530 0.00001
NM_004187.5(KDM5C):c.3020G>A (p.Arg1007His) rs1556836492 0.00001
NM_004187.5(KDM5C):c.3027G>A (p.Ala1009=) rs782659319 0.00001
NM_004187.5(KDM5C):c.3735A>G (p.Pro1245=) rs1250315806 0.00001
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp) rs370060257 0.00001
NM_004187.5(KDM5C):c.3941G>A (p.Arg1314Gln) rs782652144 0.00001
NM_004187.5(KDM5C):c.459A>G (p.Leu153=) rs1191613720 0.00001
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) rs1428740468 0.00001
NM_004187.5(KDM5C):c.954T>C (p.Asn318=) rs1295162623 0.00001
NM_004733.4(SLC33A1):c.1148+7A>G rs773852747 0.00001
NM_004733.4(SLC33A1):c.537C>T (p.Leu179=) rs751374068 0.00001
NM_004733.4(SLC33A1):c.813A>G (p.Thr271=) rs1201903329 0.00001
NM_004820.5(CYP7B1):c.122+16G>T rs895937485 0.00001
NM_004820.5(CYP7B1):c.123-20C>G rs745311868 0.00001
NM_004820.5(CYP7B1):c.1233+15A>G rs762835395 0.00001
NM_004820.5(CYP7B1):c.1383A>G (p.Gln461=) rs1353604083 0.00001
NM_004820.5(CYP7B1):c.1461G>A (p.Leu487=) rs1213447459 0.00001
NM_004820.5(CYP7B1):c.177C>A (p.Val59=) rs763202430 0.00001
NM_004820.5(CYP7B1):c.240T>A (p.Thr80=) rs1206584060 0.00001
NM_004820.5(CYP7B1):c.259+16A>G rs766418661 0.00001
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.501C>T (p.Pro167=) rs937072125 0.00001
NM_004820.5(CYP7B1):c.51G>A (p.Leu17=) rs929284330 0.00001
NM_004820.5(CYP7B1):c.684C>T (p.Ser228=) rs757172134 0.00001
NM_004820.5(CYP7B1):c.850+19G>A rs1264078929 0.00001
NM_004820.5(CYP7B1):c.978G>T (p.Leu326=) rs917696140 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
NM_004984.4(KIF5A):c.1077G>A (p.Thr359=) rs552427920 0.00001
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004984.4(KIF5A):c.1117+13T>C rs1882186079 0.00001
NM_004984.4(KIF5A):c.1197G>A (p.Val399=) rs1297872839 0.00001
NM_004984.4(KIF5A):c.1218G>C (p.Val406=) rs758977709 0.00001
NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp) rs758500897 0.00001
NM_004984.4(KIF5A):c.1241G>A (p.Arg414Gln) rs1170006745 0.00001
NM_004984.4(KIF5A):c.1268G>A (p.Arg423His) rs778095192 0.00001
NM_004984.4(KIF5A):c.129+10G>A rs1881532622 0.00001
NM_004984.4(KIF5A):c.129+20G>A rs763226331 0.00001
NM_004984.4(KIF5A):c.1293+8C>T rs776493530 0.00001
NM_004984.4(KIF5A):c.1294-7C>T rs200535153 0.00001
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402 0.00001
NM_004984.4(KIF5A):c.1362+19G>A rs1420700116 0.00001
NM_004984.4(KIF5A):c.1386C>T (p.Asp462=) rs1269741883 0.00001
NM_004984.4(KIF5A):c.1403G>A (p.Arg468Gln) rs774379377 0.00001
NM_004984.4(KIF5A):c.1407G>T (p.Glu469Asp) rs376249839 0.00001
NM_004984.4(KIF5A):c.1431C>T (p.Asn477=) rs775627499 0.00001
NM_004984.4(KIF5A):c.1458A>G (p.Glu486=) rs765567239 0.00001
NM_004984.4(KIF5A):c.1476G>A (p.Glu492=) rs1227040638 0.00001
NM_004984.4(KIF5A):c.1503G>A (p.Lys501=) rs143117314 0.00001
NM_004984.4(KIF5A):c.1604G>A (p.Arg535Gln) rs777398624 0.00001
NM_004984.4(KIF5A):c.1611G>A (p.Gln537=) rs756959491 0.00001
NM_004984.4(KIF5A):c.1702G>A (p.Gly568Arg) rs763336788 0.00001
NM_004984.4(KIF5A):c.1717-18C>T rs1882379859 0.00001
NM_004984.4(KIF5A):c.180G>A (p.Glu60=) rs200900180 0.00001
NM_004984.4(KIF5A):c.1890G>A (p.Gln630=) rs1401764909 0.00001
NM_004984.4(KIF5A):c.1896C>T (p.Leu632=) rs1161979577 0.00001
NM_004984.4(KIF5A):c.1948G>A (p.Val650Met) rs374729476 0.00001
NM_004984.4(KIF5A):c.1986C>T (p.Asp662=) rs987655555 0.00001
NM_004984.4(KIF5A):c.2004G>A (p.Leu668=) rs778038642 0.00001
NM_004984.4(KIF5A):c.2024-8T>G rs190187837 0.00001
NM_004984.4(KIF5A):c.2041G>A (p.Ala681Thr) rs1212119444 0.00001
NM_004984.4(KIF5A):c.2112G>A (p.Glu704=) rs918777253 0.00001
NM_004984.4(KIF5A):c.2124G>A (p.Glu708=) rs1224244947 0.00001
NM_004984.4(KIF5A):c.2157C>T (p.Asp719=) rs773330335 0.00001
NM_004984.4(KIF5A):c.217+7G>T rs764640404 0.00001
NM_004984.4(KIF5A):c.217+8A>G rs1305247048 0.00001
NM_004984.4(KIF5A):c.218-13C>T rs773063708 0.00001
NM_004984.4(KIF5A):c.218-4C>A rs749395504 0.00001
NM_004984.4(KIF5A):c.2183T>C (p.Ile728Thr) rs757751684 0.00001
NM_004984.4(KIF5A):c.2196A>G (p.Lys732=) rs1462609432 0.00001
NM_004984.4(KIF5A):c.2198+15G>A rs763862370 0.00001
NM_004984.4(KIF5A):c.2240C>A (p.Ala747Asp) rs749023785 0.00001
NM_004984.4(KIF5A):c.2247C>T (p.Tyr749=) rs770805531 0.00001
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951 0.00001
NM_004984.4(KIF5A):c.2290C>A (p.Gln764Lys) rs749616160 0.00001
NM_004984.4(KIF5A):c.2300+7G>A rs763362184 0.00001
NM_004984.4(KIF5A):c.2300+8G>A rs566046023 0.00001
NM_004984.4(KIF5A):c.2301-11T>C rs747055795 0.00001
NM_004984.4(KIF5A):c.2361+9T>C rs756847817 0.00001
NM_004984.4(KIF5A):c.2433+9T>C rs1326778311 0.00001
NM_004984.4(KIF5A):c.2434-15T>C rs1233214204 0.00001
NM_004984.4(KIF5A):c.2451C>T (p.Pro817=) rs976137208 0.00001
NM_004984.4(KIF5A):c.2538+7G>A rs575641161 0.00001
NM_004984.4(KIF5A):c.2546G>A (p.Arg849His) rs765503816 0.00001
NM_004984.4(KIF5A):c.2571G>A (p.Glu857=) rs747531341 0.00001
NM_004984.4(KIF5A):c.2756-12T>A rs894629153 0.00001
NM_004984.4(KIF5A):c.2756-14T>C rs746607425 0.00001
NM_004984.4(KIF5A):c.2763C>T (p.Pro921=) rs769791770 0.00001
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696 0.00001
NM_004984.4(KIF5A):c.2897C>T (p.Thr966Ile) rs149433823 0.00001
NM_004984.4(KIF5A):c.2909+14C>T rs762210073 0.00001
NM_004984.4(KIF5A):c.2909+15G>A rs376256320 0.00001
NM_004984.4(KIF5A):c.291+15T>C rs764730335 0.00001
NM_004984.4(KIF5A):c.2992+15T>C rs1594926730 0.00001
NM_004984.4(KIF5A):c.2993-6C>T rs1057522322 0.00001
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) rs750415265 0.00001
NM_004984.4(KIF5A):c.3020+9G>A rs1297564196 0.00001
NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu) rs751496558 0.00001
NM_004984.4(KIF5A):c.3062A>G (p.Lys1021Arg) rs1186511989 0.00001
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) rs756348570 0.00001
NM_004984.4(KIF5A):c.324C>A (p.Ile108=) rs1408387685 0.00001
NM_004984.4(KIF5A):c.408T>C (p.Phe136=) rs770202664 0.00001
NM_004984.4(KIF5A):c.445+7G>A rs1594912944 0.00001
NM_004984.4(KIF5A):c.446-15A>T rs1453048734 0.00001
NM_004984.4(KIF5A):c.446-20C>G rs1387302349 0.00001
NM_004984.4(KIF5A):c.465C>T (p.Ser155=) rs747071818 0.00001
NM_004984.4(KIF5A):c.501+17G>T rs749874893 0.00001
NM_004984.4(KIF5A):c.522G>A (p.Val174=) rs1443344036 0.00001
NM_004984.4(KIF5A):c.531G>A (p.Pro177=) rs771476833 0.00001
NM_004984.4(KIF5A):c.652A>G (p.Met218Val) rs769491011 0.00001
NM_004984.4(KIF5A):c.672C>T (p.Leu224=) rs770896632 0.00001
NM_004984.4(KIF5A):c.819+11C>T rs993330230 0.00001
NM_004984.4(KIF5A):c.820-4C>T rs776585528 0.00001
NM_004984.4(KIF5A):c.828T>C (p.Tyr276=) rs1485619677 0.00001
NM_004984.4(KIF5A):c.930T>C (p.Asn310=) rs768004830 0.00001
NM_004984.4(KIF5A):c.93C>T (p.Ile31=) rs923503057 0.00001
NM_004984.4(KIF5A):c.968+12G>C rs536186088 0.00001
NM_004984.4(KIF5A):c.968+16C>G rs1188551649 0.00001
NM_004984.4(KIF5A):c.969-17C>T rs1010157708 0.00001
NM_004984.4(KIF5A):c.996A>G (p.Ser332=) rs1320583318 0.00001
NM_005619.5(RTN2):c.1140C>T (p.Ala380=) rs765432276 0.00001
NM_005619.5(RTN2):c.1305C>T (p.Ile435=) rs757343656 0.00001
NM_005619.5(RTN2):c.1332G>A (p.Thr444=) rs149504512 0.00001
NM_005619.5(RTN2):c.1451-7C>T rs1418970218 0.00001
NM_005619.5(RTN2):c.1497+7G>T rs372988926 0.00001
NM_005619.5(RTN2):c.1521G>A (p.Gly507=) rs750450680 0.00001
NM_005619.5(RTN2):c.153C>T (p.Thr51=) rs778128536 0.00001
NM_005619.5(RTN2):c.79+6T>A rs749104931 0.00001
NM_006517.5(SLC16A2):c.1104C>A (p.Gly368=) rs1024842255 0.00001
NM_006517.5(SLC16A2):c.117C>G (p.Pro39=) rs764743736 0.00001
NM_006517.5(SLC16A2):c.1428C>T (p.Tyr476=) rs1177530030 0.00001
NM_006517.5(SLC16A2):c.633C>T (p.Phe211=) rs1288231777 0.00001
NM_007175.8(ERLIN2):c.1017T>C (p.Asn339=) rs776398153 0.00001
NM_007175.8(ERLIN2):c.144T>C (p.Gly48=) rs769021055 0.00001
NM_007175.8(ERLIN2):c.420G>A (p.Leu140=) rs774116062 0.00001
NM_007175.8(ERLIN2):c.589G>A (p.Ala197Thr) rs149254654 0.00001
NM_007175.8(ERLIN2):c.771G>A (p.Lys257=) rs760169548 0.00001
NM_007175.8(ERLIN2):c.807C>T (p.Ala269=) rs767299905 0.00001
NM_007347.5(AP4E1):c.1044T>C (p.Pro348=) rs1021056660 0.00001
NM_007347.5(AP4E1):c.1067-9T>C rs769024886 0.00001
NM_007347.5(AP4E1):c.1177-6A>T rs1356173034 0.00001
NM_007347.5(AP4E1):c.138C>T (p.Leu46=) rs762804786 0.00001
NM_007347.5(AP4E1):c.1429+18T>G rs1156879860 0.00001
NM_007347.5(AP4E1):c.1431T>C (p.Gly477=) rs1325876442 0.00001
NM_007347.5(AP4E1):c.1458A>G (p.Gln486=) rs557252541 0.00001
NM_007347.5(AP4E1):c.151-11C>T rs1384014717 0.00001
NM_007347.5(AP4E1):c.1938C>T (p.Arg646=) rs760668736 0.00001
NM_007347.5(AP4E1):c.2445T>C (p.Cys815=) rs953965291 0.00001
NM_007347.5(AP4E1):c.2907G>A (p.Val969=) rs778511777 0.00001
NM_007347.5(AP4E1):c.3051T>C (p.Ala1017=) rs1468608014 0.00001
NM_007347.5(AP4E1):c.3096-16T>A rs781084384 0.00001
NM_007347.5(AP4E1):c.3253+19A>C rs750506196 0.00001
NM_007347.5(AP4E1):c.3288A>G (p.Pro1096=) rs764886183 0.00001
NM_007347.5(AP4E1):c.390A>G (p.Leu130=) rs779851343 0.00001
NM_007347.5(AP4E1):c.420+9T>C rs2063739492 0.00001
NM_007347.5(AP4E1):c.450G>T (p.Val150=) rs770432473 0.00001
NM_007347.5(AP4E1):c.774G>A (p.Lys258=) rs762149705 0.00001
NM_007347.5(AP4E1):c.822A>G (p.Gln274=) rs991693986 0.00001
NM_007347.5(AP4E1):c.944-17T>C rs746257118 0.00001
NM_007347.5(AP4E1):c.944-6T>A rs775899244 0.00001
NM_014231.5(VAMP1):c.111C>T (p.Thr37=) rs774269433 0.00001
NM_014231.5(VAMP1):c.186G>A (p.Leu62=) rs985285542 0.00001
NM_014231.5(VAMP1):c.2+15G>A rs1332418739 0.00001
NM_014231.5(VAMP1):c.2+8G>A rs1429205170 0.00001
NM_014231.5(VAMP1):c.258A>G (p.Leu86=) rs765459461 0.00001
NM_014231.5(VAMP1):c.288+16C>T rs1336111436 0.00001
NM_014231.5(VAMP1):c.340+10G>A rs746020440 0.00001
NM_014231.5(VAMP1):c.341-19T>G rs1452355892 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.1005G>A (p.Ser335=) rs1260369962 0.00001
NM_014363.6(SACS):c.10179C>T (p.Cys3393=) rs1032774472 0.00001
NM_014363.6(SACS):c.10191T>C (p.His3397=) rs1289389815 0.00001
NM_014363.6(SACS):c.10212A>T (p.Ile3404=) rs1883635469 0.00001
NM_014363.6(SACS):c.10254C>T (p.Gly3418=) rs139268069 0.00001
NM_014363.6(SACS):c.10260T>C (p.Tyr3420=) rs1370239378 0.00001
NM_014363.6(SACS):c.10284A>G (p.Thr3428=) rs1447212627 0.00001
NM_014363.6(SACS):c.10290C>T (p.Tyr3430=) rs367735607 0.00001
NM_014363.6(SACS):c.1038G>A (p.Pro346=) rs771344425 0.00001
NM_014363.6(SACS):c.10470T>C (p.Tyr3490=) rs755590920 0.00001
NM_014363.6(SACS):c.10479A>G (p.Lys3493=) rs61754476 0.00001
NM_014363.6(SACS):c.10542G>A (p.Lys3514=) rs773384950 0.00001
NM_014363.6(SACS):c.10617T>C (p.His3539=) rs778799757 0.00001
NM_014363.6(SACS):c.10686C>T (p.Phe3562=) rs762161380 0.00001
NM_014363.6(SACS):c.10728T>C (p.Val3576=) rs1883602063 0.00001
NM_014363.6(SACS):c.10731A>G (p.Thr3577=) rs759287298 0.00001
NM_014363.6(SACS):c.10755C>T (p.Phe3585=) rs772041823 0.00001
NM_014363.6(SACS):c.1083A>G (p.Lys361=) rs755779338 0.00001
NM_014363.6(SACS):c.10859C>T (p.Thr3620Ile) rs543646763 0.00001
NM_014363.6(SACS):c.10881C>T (p.Ile3627=) rs576435320 0.00001
NM_014363.6(SACS):c.10915T>C (p.Leu3639=) rs755403408 0.00001
NM_014363.6(SACS):c.11037T>C (p.Leu3679=) rs1883575247 0.00001
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val) rs748237614 0.00001
NM_014363.6(SACS):c.1119T>C (p.Tyr373=) rs752597088 0.00001
NM_014363.6(SACS):c.11214T>C (p.Asn3738=) rs776619164 0.00001
NM_014363.6(SACS):c.11221C>T (p.Leu3741=) rs1190212363 0.00001
NM_014363.6(SACS):c.11337C>T (p.Phe3779=) rs139689925 0.00001
NM_014363.6(SACS):c.11409G>T (p.Trp3803Cys) rs886050075 0.00001
NM_014363.6(SACS):c.11416C>T (p.Leu3806=) rs775539263 0.00001
NM_014363.6(SACS):c.11475G>A (p.Leu3825=) rs773685284 0.00001
NM_014363.6(SACS):c.114C>T (p.Ile38=) rs1261687825 0.00001
NM_014363.6(SACS):c.11532T>C (p.Thr3844=) rs756128473 0.00001
NM_014363.6(SACS):c.11535A>G (p.Glu3845=) rs750167647 0.00001
NM_014363.6(SACS):c.11565A>G (p.Glu3855=) rs1422761558 0.00001
NM_014363.6(SACS):c.11604A>G (p.Gln3868=) rs375025693 0.00001
NM_014363.6(SACS):c.1161A>T (p.Ala387=) rs1870303680 0.00001
NM_014363.6(SACS):c.11697C>T (p.Leu3899=) rs767957360 0.00001
NM_014363.6(SACS):c.11706A>G (p.Val3902=) rs1317351655 0.00001
NM_014363.6(SACS):c.117C>T (p.Phe39=) rs1274730877 0.00001
NM_014363.6(SACS):c.11802C>T (p.Ile3934=) rs762451306 0.00001
NM_014363.6(SACS):c.11838C>T (p.Leu3946=) rs764611013 0.00001
NM_014363.6(SACS):c.11841C>T (p.Ser3947=) rs759055631 0.00001
NM_014363.6(SACS):c.11877T>G (p.Thr3959=) rs1382495342 0.00001
NM_014363.6(SACS):c.11887A>G (p.Met3963Val) rs375613914 0.00001
NM_014363.6(SACS):c.11910A>G (p.Arg3970=) rs745932319 0.00001
NM_014363.6(SACS):c.11982G>A (p.Ala3994=) rs780117352 0.00001
NM_014363.6(SACS):c.11983T>C (p.Leu3995=) rs912497422 0.00001
NM_014363.6(SACS):c.11985G>A (p.Leu3995=) rs1044929287 0.00001
NM_014363.6(SACS):c.12084G>A (p.Leu4028=) rs1242833943 0.00001
NM_014363.6(SACS):c.12086C>G (p.Ala4029Gly) rs200620627 0.00001
NM_014363.6(SACS):c.12090T>C (p.Asn4030=) rs896467064 0.00001
NM_014363.6(SACS):c.1209C>T (p.Ile403=) rs769400626 0.00001
NM_014363.6(SACS):c.12133T>C (p.Leu4045=) rs545028704 0.00001
NM_014363.6(SACS):c.12195T>C (p.Ile4065=) rs1286408517 0.00001
NM_014363.6(SACS):c.12285C>T (p.Asp4095=) rs1315062956 0.00001
NM_014363.6(SACS):c.12294C>T (p.Phe4098=) rs761749563 0.00001
NM_014363.6(SACS):c.12429T>C (p.Tyr4143=) rs1193969994 0.00001
NM_014363.6(SACS):c.12474A>G (p.Thr4158=) rs767116262 0.00001
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) rs764098635 0.00001
NM_014363.6(SACS):c.12525T>G (p.Val4175=) rs758466161 0.00001
NM_014363.6(SACS):c.1254A>C (p.Pro418=) rs750585737 0.00001
NM_014363.6(SACS):c.12581A>G (p.Tyr4194Cys) rs1486450052 0.00001
NM_014363.6(SACS):c.12585A>G (p.Gly4195=) rs200305087 0.00001
NM_014363.6(SACS):c.12603C>T (p.Tyr4201=) rs770163213 0.00001
NM_014363.6(SACS):c.12606A>C (p.Thr4202=) rs780674369 0.00001
NM_014363.6(SACS):c.1269C>T (p.Ala423=) rs377620507 0.00001
NM_014363.6(SACS):c.12720T>C (p.Leu4240=) rs747702706 0.00001
NM_014363.6(SACS):c.12747G>A (p.Glu4249=) rs779907117 0.00001
NM_014363.6(SACS):c.12789C>G (p.Thr4263=) rs1195826873 0.00001
NM_014363.6(SACS):c.12831T>G (p.Pro4277=) rs1298221924 0.00001
NM_014363.6(SACS):c.12833C>T (p.Pro4278Leu) rs574294199 0.00001
NM_014363.6(SACS):c.1284C>T (p.Ser428=) rs941949767 0.00001
NM_014363.6(SACS):c.12858C>T (p.His4286=) rs555927628 0.00001
NM_014363.6(SACS):c.12882C>T (p.Ser4294=) rs769768838 0.00001
NM_014363.6(SACS):c.13119C>T (p.Asp4373=) rs368124828 0.00001
NM_014363.6(SACS):c.13149A>G (p.Ser4383=) rs770028802 0.00001
NM_014363.6(SACS):c.13218G>A (p.Thr4406=) rs1229448994 0.00001
NM_014363.6(SACS):c.13263C>G (p.Pro4421=) rs1452082694 0.00001
NM_014363.6(SACS):c.13269A>T (p.Ser4423=) rs1180908312 0.00001
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg) rs754693143 0.00001
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=) rs753277514 0.00001
NM_014363.6(SACS):c.13419G>A (p.Val4473=) rs751336327 0.00001
NM_014363.6(SACS):c.13476G>C (p.Val4492=) rs370362235 0.00001
NM_014363.6(SACS):c.13506A>G (p.Pro4502=) rs1593119067 0.00001
NM_014363.6(SACS):c.13509T>G (p.Thr4503=) rs745361567 0.00001
NM_014363.6(SACS):c.13536T>C (p.Tyr4512=) rs1593118995 0.00001
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn) rs138328181 0.00001
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600 0.00001
NM_014363.6(SACS):c.13692T>C (p.Thr4564=) rs770600182 0.00001
NM_014363.6(SACS):c.13719T>C (p.Asn4573=) rs1309405788 0.00001
NM_014363.6(SACS):c.1389C>T (p.His463=) rs1870277384 0.00001
NM_014363.6(SACS):c.1485T>C (p.Phe495=) rs779933721 0.00001
NM_014363.6(SACS):c.1566T>A (p.Ser522=) rs1203606581 0.00001
NM_014363.6(SACS):c.1614G>A (p.Ala538=) rs1405327643 0.00001
NM_014363.6(SACS):c.1683G>A (p.Val561=) rs1485932032 0.00001
NM_014363.6(SACS):c.1714T>C (p.Leu572=) rs145772567 0.00001
NM_014363.6(SACS):c.1716G>A (p.Leu572=) rs780596882 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.1752A>G (p.Leu584=) rs368626712 0.00001
NM_014363.6(SACS):c.1755A>G (p.Glu585=) rs1287240338 0.00001
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752 0.00001
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813 0.00001
NM_014363.6(SACS):c.1971C>T (p.Asp657=) rs1870208518 0.00001
NM_014363.6(SACS):c.1980C>T (p.Tyr660=) rs991078992 0.00001
NM_014363.6(SACS):c.199C>T (p.Leu67=) rs769143590 0.00001
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929 0.00001
NM_014363.6(SACS):c.2031C>T (p.Val677=) rs771431845 0.00001
NM_014363.6(SACS):c.2093+10C>T rs751417820 0.00001
NM_014363.6(SACS):c.21-6C>A rs767048737 0.00001
NM_014363.6(SACS):c.2139G>A (p.Leu713=) rs749720485 0.00001
NM_014363.6(SACS):c.2148C>T (p.His716=) rs780789330 0.00001
NM_014363.6(SACS):c.2170G>T (p.Ala724Ser) rs752593308 0.00001
NM_014363.6(SACS):c.2181C>G (p.Thr727=) rs767656737 0.00001
NM_014363.6(SACS):c.2193A>G (p.Pro731=) rs1290283039 0.00001
NM_014363.6(SACS):c.2278T>C (p.Leu760=) rs770454726 0.00001
NM_014363.6(SACS):c.2304T>C (p.Asp768=) rs1869226731 0.00001
NM_014363.6(SACS):c.2379T>C (p.Asp793=) rs1869218552 0.00001
NM_014363.6(SACS):c.2388A>G (p.Leu796=) rs747213520 0.00001
NM_014363.6(SACS):c.2451C>T (p.Leu817=) rs756595744 0.00001
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu) rs762821420 0.00001
NM_014363.6(SACS):c.2488G>A (p.Asp830Asn) rs571646732 0.00001
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) rs769153924 0.00001
NM_014363.6(SACS):c.2547G>C (p.Gly849=) rs1479328506 0.00001
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu) rs776290829 0.00001
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser) rs370103461 0.00001
NM_014363.6(SACS):c.2682G>A (p.Ser894=) rs369958174 0.00001
NM_014363.6(SACS):c.2702A>T (p.Asp901Val) rs769056718 0.00001
NM_014363.6(SACS):c.2750A>T (p.Glu917Val) rs201491052 0.00001
NM_014363.6(SACS):c.27C>G (p.Val9=) rs912218064 0.00001
NM_014363.6(SACS):c.2830T>C (p.Leu944=) rs1348417682 0.00001
NM_014363.6(SACS):c.2862C>T (p.Ala954=) rs776780963 0.00001
NM_014363.6(SACS):c.2877T>C (p.Asp959=) rs761263379 0.00001
NM_014363.6(SACS):c.3017A>G (p.His1006Arg) rs368149368 0.00001
NM_014363.6(SACS):c.3030A>G (p.Thr1010=) rs1869138853 0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=) rs746764976 0.00001
NM_014363.6(SACS):c.3096G>A (p.Glu1032=) rs529746813 0.00001
NM_014363.6(SACS):c.3100T>C (p.Leu1034=) rs1312893381 0.00001
NM_014363.6(SACS):c.3111A>G (p.Leu1037=) rs1299826374 0.00001
NM_014363.6(SACS):c.3147A>T (p.Ser1049=) rs1172279475 0.00001
NM_014363.6(SACS):c.316A>C (p.Arg106=) rs1593155679 0.00001
NM_014363.6(SACS):c.3231T>C (p.Val1077=) rs781272328 0.00001
NM_014363.6(SACS):c.3288C>T (p.Ala1096=) rs966965221 0.00001
NM_014363.6(SACS):c.3300A>G (p.Glu1100=) rs1487356590 0.00001
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile) rs771915442 0.00001
NM_014363.6(SACS):c.3346G>A (p.Gly1116Ser) rs774044532 0.00001
NM_014363.6(SACS):c.3397C>T (p.Leu1133=) rs1249661192 0.00001
NM_014363.6(SACS):c.339T>C (p.Ile113=) rs890638661 0.00001
NM_014363.6(SACS):c.3402T>C (p.Val1134=) rs1464284835 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.345+10A>G rs764420228 0.00001
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala) rs1443000762 0.00001
NM_014363.6(SACS):c.3516C>A (p.Val1172=) rs771148569 0.00001
NM_014363.6(SACS):c.3545C>T (p.Ala1182Val) rs373859681 0.00001
NM_014363.6(SACS):c.3546A>G (p.Ala1182=) rs772247163 0.00001
NM_014363.6(SACS):c.3554A>G (p.Asp1185Gly) rs755751713 0.00001
NM_014363.6(SACS):c.3618T>C (p.His1206=) rs771089482 0.00001
NM_014363.6(SACS):c.3726T>C (p.Asp1242=) rs750012725 0.00001
NM_014363.6(SACS):c.3741A>G (p.Gln1247=) rs763977282 0.00001
NM_014363.6(SACS):c.3918T>C (p.Asn1306=) rs774765353 0.00001
NM_014363.6(SACS):c.3951A>G (p.Leu1317=) rs1276993951 0.00001
NM_014363.6(SACS):c.3969A>T (p.Ser1323=) rs763191564 0.00001
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225 0.00001
NM_014363.6(SACS):c.4200T>C (p.Tyr1400=) rs972483882 0.00001
NM_014363.6(SACS):c.4296A>G (p.Glu1432=) rs1454546564 0.00001
NM_014363.6(SACS):c.4401T>C (p.Ile1467=) rs1868991227 0.00001
NM_014363.6(SACS):c.4452C>T (p.Asn1484=) rs1371225425 0.00001
NM_014363.6(SACS):c.4491T>C (p.Ile1497=) rs1056501976 0.00001
NM_014363.6(SACS):c.4527C>T (p.Leu1509=) rs1394125839 0.00001
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala) rs1230237404 0.00001
NM_014363.6(SACS):c.4611C>T (p.Asn1537=) rs759173138 0.00001
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449 0.00001
NM_014363.6(SACS):c.4674T>G (p.Leu1558=) rs781676575 0.00001
NM_014363.6(SACS):c.4692C>T (p.Tyr1564=) rs1455651684 0.00001
NM_014363.6(SACS):c.4701T>C (p.Thr1567=) rs777967700 0.00001
NM_014363.6(SACS):c.4749A>G (p.Pro1583=) rs760512075 0.00001
NM_014363.6(SACS):c.47G>T (p.Gly16Val) rs886050090 0.00001
NM_014363.6(SACS):c.4803A>G (p.Lys1601=) rs567166548 0.00001
NM_014363.6(SACS):c.483C>T (p.Asn161=) rs762321054 0.00001
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu) rs771080306 0.00001
NM_014363.6(SACS):c.4857A>G (p.Lys1619=) rs1183984626 0.00001
NM_014363.6(SACS):c.4887A>G (p.Leu1629=) rs1419607062 0.00001
NM_014363.6(SACS):c.4899A>T (p.Val1633=) rs146419598 0.00001
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn) rs774163551 0.00001
NM_014363.6(SACS):c.4929T>C (p.Leu1643=) rs776977428 0.00001
NM_014363.6(SACS):c.492C>T (p.Phe164=) rs745849958 0.00001
NM_014363.6(SACS):c.4938G>A (p.Leu1646=) rs1316203129 0.00001
NM_014363.6(SACS):c.4944T>C (p.Phe1648=) rs1274561101 0.00001
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys) rs1269546947 0.00001
NM_014363.6(SACS):c.5064G>A (p.Gln1688=) rs760628805 0.00001
NM_014363.6(SACS):c.510C>T (p.His170=) rs575556786 0.00001
NM_014363.6(SACS):c.5304C>T (p.His1768=) rs373239775 0.00001
NM_014363.6(SACS):c.5322T>C (p.Ile1774=) rs1034825215 0.00001
NM_014363.6(SACS):c.5337G>A (p.Ser1779=) rs767529590 0.00001
NM_014363.6(SACS):c.5557C>T (p.Leu1853=) rs1353300258 0.00001
NM_014363.6(SACS):c.5595A>C (p.Pro1865=) rs777869317 0.00001
NM_014363.6(SACS):c.5610G>A (p.Val1870=) rs765722028 0.00001
NM_014363.6(SACS):c.561C>T (p.Val187=) rs758653462 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5733G>A (p.Thr1911=) rs754333038 0.00001
NM_014363.6(SACS):c.573A>G (p.Gly191=) rs750678759 0.00001
NM_014363.6(SACS):c.5835A>G (p.Val1945=) rs1593129510 0.00001
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090 0.00001
NM_014363.6(SACS):c.5898T>C (p.Asp1966=) rs762511209 0.00001
NM_014363.6(SACS):c.5910A>G (p.Gly1970=) rs1236957952 0.00001
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.5970C>T (p.Asn1990=) rs199573269 0.00001
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602 0.00001
NM_014363.6(SACS):c.5985T>C (p.Asp1995=) rs764645489 0.00001
NM_014363.6(SACS):c.6006A>G (p.Arg2002=) rs920395434 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.6186T>C (p.Phe2062=) rs755689089 0.00001
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu) rs1364796862 0.00001
NM_014363.6(SACS):c.6288A>T (p.Pro2096=) rs139242482 0.00001
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) rs762352013 0.00001
NM_014363.6(SACS):c.6399T>C (p.Tyr2133=) rs775060182 0.00001
NM_014363.6(SACS):c.6577G>A (p.Asp2193Asn) rs149278134 0.00001
NM_014363.6(SACS):c.6627A>G (p.Lys2209=) rs764616342 0.00001
NM_014363.6(SACS):c.66C>T (p.Thr22=) rs1394091047 0.00001
NM_014363.6(SACS):c.6864A>G (p.Pro2288=) rs756561578 0.00001
NM_014363.6(SACS):c.6921A>G (p.Gly2307=) rs200277478 0.00001
NM_014363.6(SACS):c.6939G>A (p.Glu2313=) rs746279125 0.00001
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313 0.00001
NM_014363.6(SACS):c.7164C>T (p.Thr2388=) rs918107481 0.00001
NM_014363.6(SACS):c.7182A>G (p.Ser2394=) rs768013904 0.00001
NM_014363.6(SACS):c.7203T>C (p.Ala2401=) rs1400244997 0.00001
NM_014363.6(SACS):c.7230A>G (p.Glu2410=) rs765300147 0.00001
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val) rs1007936574 0.00001
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774 0.00001
NM_014363.6(SACS):c.7311A>G (p.Arg2437=) rs1472391006 0.00001
NM_014363.6(SACS):c.7314A>G (p.Glu2438=) rs748828472 0.00001
NM_014363.6(SACS):c.7376T>C (p.Met2459Thr) rs767864000 0.00001
NM_014363.6(SACS):c.7485A>G (p.Lys2495=) rs767941919 0.00001
NM_014363.6(SACS):c.7569G>A (p.Gly2523=) rs749462494 0.00001
NM_014363.6(SACS):c.7674G>A (p.Ala2558=) rs983508748 0.00001
NM_014363.6(SACS):c.7692G>A (p.Val2564=) rs771924997 0.00001
NM_014363.6(SACS):c.7713A>G (p.Pro2571=) rs557113294 0.00001
NM_014363.6(SACS):c.7747T>C (p.Leu2583=) rs1017350676 0.00001
NM_014363.6(SACS):c.774G>A (p.Lys258=) rs1165959000 0.00001
NM_014363.6(SACS):c.7833G>A (p.Thr2611=) rs1237743096 0.00001
NM_014363.6(SACS):c.7962T>C (p.Tyr2654=) rs777875035 0.00001
NM_014363.6(SACS):c.7974C>G (p.Ala2658=) rs148209022 0.00001
NM_014363.6(SACS):c.8058G>C (p.Leu2686=) rs779477513 0.00001
NM_014363.6(SACS):c.8109T>C (p.Arg2703=) rs750168452 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8154A>G (p.Ala2718=) rs773434326 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.8191C>T (p.Arg2731Cys) rs772072343 0.00001
NM_014363.6(SACS):c.8307C>A (p.Ile2769=) rs1478809811 0.00001
NM_014363.6(SACS):c.831A>G (p.Leu277=) rs747543820 0.00001
NM_014363.6(SACS):c.8337A>G (p.Gln2779=) rs777320906 0.00001
NM_014363.6(SACS):c.8379G>A (p.Gln2793=) rs776028181 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014363.6(SACS):c.8697T>C (p.Asp2899=) rs766827808 0.00001
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=) rs779302353 0.00001
NM_014363.6(SACS):c.8880A>G (p.Leu2960=) rs1373611853 0.00001
NM_014363.6(SACS):c.8883G>A (p.Ser2961=) rs1463204431 0.00001
NM_014363.6(SACS):c.8900G>A (p.Arg2967His) rs777753707 0.00001
NM_014363.6(SACS):c.8931A>G (p.Leu2977=) rs376228714 0.00001
NM_014363.6(SACS):c.8949T>C (p.Asn2983=) rs530439104 0.00001
NM_014363.6(SACS):c.8976T>C (p.Leu2992=) rs1184717209 0.00001
NM_014363.6(SACS):c.9108A>G (p.Gln3036=) rs1226706134 0.00001
NM_014363.6(SACS):c.9168T>C (p.Tyr3056=) rs374129015 0.00001
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg) rs758654165 0.00001
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp) rs755698899 0.00001
NM_014363.6(SACS):c.924C>G (p.Leu308=) rs368573394 0.00001
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974 0.00001
NM_014363.6(SACS):c.930G>T (p.Leu310=) rs1003682599 0.00001
NM_014363.6(SACS):c.9324T>C (p.Pro3108=) rs748663426 0.00001
NM_014363.6(SACS):c.9339T>C (p.His3113=) rs1883704767 0.00001
NM_014363.6(SACS):c.9345G>C (p.Gly3115=) rs1356778975 0.00001
NM_014363.6(SACS):c.9426T>C (p.Asp3142=) rs984124456 0.00001
NM_014363.6(SACS):c.9474A>G (p.Thr3158=) rs1421120585 0.00001
NM_014363.6(SACS):c.9516G>A (p.Lys3172=) rs1409643298 0.00001
NM_014363.6(SACS):c.9538T>C (p.Leu3180=) rs1249527788 0.00001
NM_014363.6(SACS):c.9573A>G (p.Thr3191=) rs761821873 0.00001
NM_014363.6(SACS):c.9618A>G (p.Ala3206=) rs1377041786 0.00001
NM_014363.6(SACS):c.9636C>T (p.Ser3212=) rs746474360 0.00001
NM_014363.6(SACS):c.9661G>A (p.Val3221Met) rs142867964 0.00001
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys) rs776143384 0.00001
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr) rs765635417 0.00001
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501 0.00001
NM_014363.6(SACS):c.9765A>G (p.Val3255=) rs749004855 0.00001
NM_014363.6(SACS):c.9801A>T (p.Thr3267=) rs765872254 0.00001
NM_014363.6(SACS):c.9822T>C (p.Thr3274=) rs771522497 0.00001
NM_014363.6(SACS):c.984A>G (p.Lys328=) rs1870322643 0.00001
NM_014363.6(SACS):c.9885T>A (p.Val3295=) rs752805757 0.00001
NM_014363.6(SACS):c.9915C>T (p.Ser3305=) rs761124250 0.00001
NM_014363.6(SACS):c.9996T>C (p.Leu3332=) rs1484198071 0.00001
NM_015346.4(ZFYVE26):c.1005C>T (p.Leu335=) rs772772440 0.00001
NM_015346.4(ZFYVE26):c.108A>G (p.Val36=) rs759457505 0.00001
NM_015346.4(ZFYVE26):c.1092C>T (p.Pro364=) rs566685704 0.00001
NM_015346.4(ZFYVE26):c.1128C>T (p.His376=) rs557782295 0.00001
NM_015346.4(ZFYVE26):c.1159C>T (p.Leu387Phe) rs76738736 0.00001
NM_015346.4(ZFYVE26):c.1161C>G (p.Leu387=) rs60184489 0.00001
NM_015346.4(ZFYVE26):c.1182+9C>T rs2040160593 0.00001
NM_015346.4(ZFYVE26):c.1209G>A (p.Arg403=) rs1350552484 0.00001
NM_015346.4(ZFYVE26):c.1215C>T (p.Ala405=) rs914725835 0.00001
NM_015346.4(ZFYVE26):c.1272-10T>C rs773153713 0.00001
NM_015346.4(ZFYVE26):c.1294C>T (p.Leu432=) rs376250446 0.00001
NM_015346.4(ZFYVE26):c.1311C>T (p.His437=) rs148836697 0.00001
NM_015346.4(ZFYVE26):c.1332G>C (p.Val444=) rs373043055 0.00001
NM_015346.4(ZFYVE26):c.1368C>T (p.Ala456=) rs574247746 0.00001
NM_015346.4(ZFYVE26):c.1386T>C (p.Val462=) rs1181139858 0.00001
NM_015346.4(ZFYVE26):c.1436-9G>A rs1013932530 0.00001
NM_015346.4(ZFYVE26):c.1518T>C (p.Tyr506=) rs2040090737 0.00001
NM_015346.4(ZFYVE26):c.1554C>T (p.His518=) rs759327625 0.00001
NM_015346.4(ZFYVE26):c.1650T>C (p.Asn550=) rs1180056235 0.00001
NM_015346.4(ZFYVE26):c.1740A>T (p.Ser580=) rs985545374 0.00001
NM_015346.4(ZFYVE26):c.1806T>C (p.Asp602=) rs753113451 0.00001
NM_015346.4(ZFYVE26):c.1809T>C (p.Asp603=) rs1168529235 0.00001
NM_015346.4(ZFYVE26):c.1857C>T (p.Ser619=) rs764478609 0.00001
NM_015346.4(ZFYVE26):c.1911C>T (p.Val637=) rs1309567799 0.00001
NM_015346.4(ZFYVE26):c.1914A>G (p.Pro638=) rs771972941 0.00001
NM_015346.4(ZFYVE26):c.1959A>G (p.Pro653=) rs756480987 0.00001
NM_015346.4(ZFYVE26):c.2172C>T (p.Ser724=) rs760456452 0.00001
NM_015346.4(ZFYVE26):c.2178G>A (p.Leu726=) rs370772062 0.00001
NM_015346.4(ZFYVE26):c.2226G>A (p.Val742=) rs2039993509 0.00001
NM_015346.4(ZFYVE26):c.2249-7C>T rs1192842731 0.00001
NM_015346.4(ZFYVE26):c.2333-9T>C rs1428905219 0.00001
NM_015346.4(ZFYVE26):c.2402-5A>C rs756182820 0.00001
NM_015346.4(ZFYVE26):c.2409T>C (p.Ser803=) rs781642527 0.00001
NM_015346.4(ZFYVE26):c.2436G>A (p.Glu812=) rs1194462617 0.00001
NM_015346.4(ZFYVE26):c.2475C>A (p.Leu825=) rs1266096645 0.00001
NM_015346.4(ZFYVE26):c.2505A>G (p.Ser835=) rs1174556749 0.00001
NM_015346.4(ZFYVE26):c.2554-18C>T rs771465086 0.00001
NM_015346.4(ZFYVE26):c.2592A>G (p.Ser864=) rs562348210 0.00001
NM_015346.4(ZFYVE26):c.2643C>G (p.Ala881=) rs2039789131 0.00001
NM_015346.4(ZFYVE26):c.2718C>T (p.Arg906=) rs1197467194 0.00001
NM_015346.4(ZFYVE26):c.2772T>C (p.Ser924=) rs1165516715 0.00001
NM_015346.4(ZFYVE26):c.2823C>T (p.Pro941=) rs769295045 0.00001
NM_015346.4(ZFYVE26):c.2883A>G (p.Arg961=) rs776043563 0.00001
NM_015346.4(ZFYVE26):c.2886G>A (p.Glu962=) rs772671492 0.00001
NM_015346.4(ZFYVE26):c.2952C>G (p.Leu984=) rs776265522 0.00001
NM_015346.4(ZFYVE26):c.2970G>A (p.Gln990=) rs1277177199 0.00001
NM_015346.4(ZFYVE26):c.2985C>T (p.Ala995=) rs772468217 0.00001
NM_015346.4(ZFYVE26):c.3020-10C>G rs1025456260 0.00001
NM_015346.4(ZFYVE26):c.3072A>G (p.Pro1024=) rs1208106488 0.00001
NM_015346.4(ZFYVE26):c.312T>C (p.Phe104=) rs765368162 0.00001
NM_015346.4(ZFYVE26):c.3228T>C (p.Cys1076=) rs377376619 0.00001
NM_015346.4(ZFYVE26):c.3273T>C (p.Leu1091=) rs143747540 0.00001
NM_015346.4(ZFYVE26):c.3280C>T (p.Leu1094=) rs780684641 0.00001
NM_015346.4(ZFYVE26):c.3304+7G>A rs1463944005 0.00001
NM_015346.4(ZFYVE26):c.3441G>A (p.Arg1147=) rs753535944 0.00001
NM_015346.4(ZFYVE26):c.3523+9C>A rs1186825516 0.00001
NM_015346.4(ZFYVE26):c.363+15T>G rs1055373300 0.00001
NM_015346.4(ZFYVE26):c.363+7G>A rs1297622728 0.00001
NM_015346.4(ZFYVE26):c.3636C>G (p.Ala1212=) rs1024821330 0.00001
NM_015346.4(ZFYVE26):c.364-12T>C rs757340973 0.00001
NM_015346.4(ZFYVE26):c.364-4T>G rs1165328816 0.00001
NM_015346.4(ZFYVE26):c.3735G>A (p.Gln1245=) rs776265667 0.00001
NM_015346.4(ZFYVE26):c.3765T>C (p.Thr1255=) rs1298362828 0.00001
NM_015346.4(ZFYVE26):c.3801C>T (p.Asp1267=) rs2039559128 0.00001
NM_015346.4(ZFYVE26):c.3819G>A (p.Pro1273=) rs752013494 0.00001
NM_015346.4(ZFYVE26):c.3843C>T (p.Asn1281=) rs775294356 0.00001
NM_015346.4(ZFYVE26):c.3882C>T (p.Asp1294=) rs2039555535 0.00001
NM_015346.4(ZFYVE26):c.3897C>T (p.Ala1299=) rs1289089560 0.00001
NM_015346.4(ZFYVE26):c.3903C>T (p.Thr1301=) rs1342222658 0.00001
NM_015346.4(ZFYVE26):c.3951G>A (p.Thr1317=) rs759228538 0.00001
NM_015346.4(ZFYVE26):c.3975G>A (p.Pro1325=) rs954507732 0.00001
NM_015346.4(ZFYVE26):c.4005A>G (p.Ser1335=) rs907667900 0.00001
NM_015346.4(ZFYVE26):c.4071G>A (p.Glu1357=) rs780774765 0.00001
NM_015346.4(ZFYVE26):c.408T>C (p.Pro136=) rs186059110 0.00001
NM_015346.4(ZFYVE26):c.4110C>T (p.Leu1370=) rs753815763 0.00001
NM_015346.4(ZFYVE26):c.4155G>A (p.Gln1385=) rs1331227084 0.00001
NM_015346.4(ZFYVE26):c.4159C>T (p.Leu1387=) rs1381264309 0.00001
NM_015346.4(ZFYVE26):c.4215T>C (p.His1405=) rs1446643275 0.00001
NM_015346.4(ZFYVE26):c.4239G>A (p.Leu1413=) rs538068224 0.00001
NM_015346.4(ZFYVE26):c.4260C>T (p.Ser1420=) rs375157574 0.00001
NM_015346.4(ZFYVE26):c.4284G>T (p.Arg1428=) rs775176106 0.00001
NM_015346.4(ZFYVE26):c.4434C>G (p.Ala1478=) rs1594911372 0.00001
NM_015346.4(ZFYVE26):c.4449C>T (p.Asp1483=) rs372529411 0.00001
NM_015346.4(ZFYVE26):c.4560G>A (p.Val1520=) rs1427063432 0.00001
NM_015346.4(ZFYVE26):c.4663C>T (p.Leu1555=) rs2039462773 0.00001
NM_015346.4(ZFYVE26):c.4665A>G (p.Leu1555=) rs749442870 0.00001
NM_015346.4(ZFYVE26):c.4791T>C (p.Ala1597=) rs1320545650 0.00001
NM_015346.4(ZFYVE26):c.4798-8G>A rs200338375 0.00001
NM_015346.4(ZFYVE26):c.4803G>A (p.Leu1601=) rs772399290 0.00001
NM_015346.4(ZFYVE26):c.4824C>G (p.Thr1608=) rs200553438 0.00001
NM_015346.4(ZFYVE26):c.4959G>A (p.Leu1653=) rs1279156296 0.00001
NM_015346.4(ZFYVE26):c.4975-17A>G rs778581639 0.00001
NM_015346.4(ZFYVE26):c.4980G>A (p.Leu1660=) rs756162071 0.00001
NM_015346.4(ZFYVE26):c.5037G>A (p.Leu1679=) rs1487783847 0.00001
NM_015346.4(ZFYVE26):c.5097G>A (p.Gln1699=) rs781146107 0.00001
NM_015346.4(ZFYVE26):c.5130T>C (p.Ile1710=) rs1333069870 0.00001
NM_015346.4(ZFYVE26):c.5172C>T (p.Tyr1724=) rs759141456 0.00001
NM_015346.4(ZFYVE26):c.5199C>T (p.Tyr1733=) rs2039328201 0.00001
NM_015346.4(ZFYVE26):c.5222-4A>G rs1331826992 0.00001
NM_015346.4(ZFYVE26):c.5222-6C>T rs762607184 0.00001
NM_015346.4(ZFYVE26):c.5222-7T>C rs868061324 0.00001
NM_015346.4(ZFYVE26):c.5222-8C>T rs765966529 0.00001
NM_015346.4(ZFYVE26):c.5244A>G (p.Glu1748=) rs776400030 0.00001
NM_015346.4(ZFYVE26):c.5268C>T (p.Pro1756=) rs757534059 0.00001
NM_015346.4(ZFYVE26):c.5320+8C>G rs369345632 0.00001
NM_015346.4(ZFYVE26):c.5320+9T>C rs559219595 0.00001
NM_015346.4(ZFYVE26):c.5321-13C>A rs757872181 0.00001
NM_015346.4(ZFYVE26):c.5321-9G>A rs1310234849 0.00001
NM_015346.4(ZFYVE26):c.5328C>A (p.Ser1776=) rs201033152 0.00001
NM_015346.4(ZFYVE26):c.5352G>A (p.Arg1784=) rs749248351 0.00001
NM_015346.4(ZFYVE26):c.5409C>A (p.Pro1803=) rs745326956 0.00001
NM_015346.4(ZFYVE26):c.5478C>T (p.Phe1826=) rs759552463 0.00001
NM_015346.4(ZFYVE26):c.5517C>T (p.Gly1839=) rs968380244 0.00001
NM_015346.4(ZFYVE26):c.5556G>A (p.Val1852=) rs138347091 0.00001
NM_015346.4(ZFYVE26):c.5621+10C>T rs746828024 0.00001
NM_015346.4(ZFYVE26):c.5622-8G>A rs768215819 0.00001
NM_015346.4(ZFYVE26):c.5649A>C (p.Pro1883=) rs934241128 0.00001
NM_015346.4(ZFYVE26):c.5653+8C>T rs1466360655 0.00001
NM_015346.4(ZFYVE26):c.5691G>A (p.Ser1897=) rs558318162 0.00001
NM_015346.4(ZFYVE26):c.5700G>A (p.Val1900=) rs751994151 0.00001
NM_015346.4(ZFYVE26):c.5706C>A (p.Val1902=) rs1251746638 0.00001
NM_015346.4(ZFYVE26):c.5709C>T (p.Pro1903=) rs147620229 0.00001
NM_015346.4(ZFYVE26):c.5712A>G (p.Lys1904=) rs1391052284 0.00001
NM_015346.4(ZFYVE26):c.5718T>C (p.Asp1906=) rs763496662 0.00001
NM_015346.4(ZFYVE26):c.5766G>A (p.Val1922=) rs545330467 0.00001
NM_015346.4(ZFYVE26):c.5791-7C>T rs879477348 0.00001
NM_015346.4(ZFYVE26):c.5860C>T (p.Leu1954=) rs1273950788 0.00001
NM_015346.4(ZFYVE26):c.5904A>G (p.Pro1968=) rs1303468263 0.00001
NM_015346.4(ZFYVE26):c.5931C>T (p.Asp1977=) rs2039057021 0.00001
NM_015346.4(ZFYVE26):c.6012-10C>T rs757050992 0.00001
NM_015346.4(ZFYVE26):c.601T>C (p.Leu201=) rs750838440 0.00001
NM_015346.4(ZFYVE26):c.6066C>T (p.His2022=) rs773571478 0.00001
NM_015346.4(ZFYVE26):c.6159+10A>C rs751622378 0.00001
NM_015346.4(ZFYVE26):c.6189C>T (p.Thr2063=) rs777612795 0.00001
NM_015346.4(ZFYVE26):c.6351G>C (p.Val2117=) rs1389445191 0.00001
NM_015346.4(ZFYVE26):c.6378C>T (p.Asp2126=) rs764651563 0.00001
NM_015346.4(ZFYVE26):c.6399G>A (p.Arg2133=) rs1450048880 0.00001
NM_015346.4(ZFYVE26):c.6408A>G (p.Glu2136=) rs1333326345 0.00001
NM_015346.4(ZFYVE26):c.6435T>G (p.Ser2145=) rs1201831215 0.00001
NM_015346.4(ZFYVE26):c.6582C>T (p.Leu2194=) rs1187035716 0.00001
NM_015346.4(ZFYVE26):c.6585C>T (p.Asn2195=) rs377709932 0.00001
NM_015346.4(ZFYVE26):c.6589-18C>T rs369074633 0.00001
NM_015346.4(ZFYVE26):c.6589-6C>T rs766195517 0.00001
NM_015346.4(ZFYVE26):c.6630A>C (p.Pro2210=) rs2038772092 0.00001
NM_015346.4(ZFYVE26):c.6645G>A (p.Gly2215=) rs1278427910 0.00001
NM_015346.4(ZFYVE26):c.6657T>G (p.Thr2219=) rs905632913 0.00001
NM_015346.4(ZFYVE26):c.669G>A (p.Arg223=) rs754557488 0.00001
NM_015346.4(ZFYVE26):c.6723C>T (p.Ala2241=) rs1439817240 0.00001
NM_015346.4(ZFYVE26):c.6741G>A (p.Lys2247=) rs201076694 0.00001
NM_015346.4(ZFYVE26):c.6870A>G (p.Ser2290=) rs766701632 0.00001
NM_015346.4(ZFYVE26):c.6986+10G>A rs201619539 0.00001
NM_015346.4(ZFYVE26):c.6986+12T>C rs2038742277 0.00001
NM_015346.4(ZFYVE26):c.6999A>G (p.Thr2333=) rs1163419770 0.00001
NM_015346.4(ZFYVE26):c.7089G>A (p.Leu2363=) rs773000073 0.00001
NM_015346.4(ZFYVE26):c.7129-14C>T rs745982383 0.00001
NM_015346.4(ZFYVE26):c.7129-8C>T rs530282754 0.00001
NM_015346.4(ZFYVE26):c.7248A>G (p.Lys2416=) rs886050652 0.00001
NM_015346.4(ZFYVE26):c.7365G>A (p.Pro2455=) rs766261905 0.00001
NM_015346.4(ZFYVE26):c.7371+15G>A rs765474728 0.00001
NM_015346.4(ZFYVE26):c.7377G>A (p.Leu2459=) rs1014312605 0.00001
NM_015346.4(ZFYVE26):c.7384C>T (p.Leu2462=) rs761032290 0.00001
NM_015346.4(ZFYVE26):c.7389C>T (p.Ile2463=) rs199735522 0.00001
NM_015346.4(ZFYVE26):c.7413C>T (p.Asn2471=) rs769245111 0.00001
NM_015346.4(ZFYVE26):c.7417-8A>T rs372540351 0.00001
NM_015346.4(ZFYVE26):c.7434A>C (p.Ile2478=) rs1393104950 0.00001
NM_015346.4(ZFYVE26):c.7458C>T (p.Tyr2486=) rs766789454 0.00001
NM_015346.4(ZFYVE26):c.7459T>C (p.Leu2487=) rs763370008 0.00001
NM_015346.4(ZFYVE26):c.7521C>T (p.Ala2507=) rs745599153 0.00001
NM_015346.4(ZFYVE26):c.760C>T (p.Leu254=) rs759762982 0.00001
NM_015346.4(ZFYVE26):c.771G>A (p.Glu257=) rs749671607 0.00001
NM_015346.4(ZFYVE26):c.789G>A (p.Leu263=) rs1375922528 0.00001
NM_015346.4(ZFYVE26):c.795C>T (p.His265=) rs757869407 0.00001
NM_015346.4(ZFYVE26):c.804C>T (p.Ser268=) rs745467429 0.00001
NM_015346.4(ZFYVE26):c.825T>C (p.Tyr275=) rs2040204823 0.00001
NM_015346.4(ZFYVE26):c.864G>A (p.Pro288=) rs1360412471 0.00001
NM_015346.4(ZFYVE26):c.886+9C>T rs1487961068 0.00001
NM_015346.4(ZFYVE26):c.887-18G>A rs184685606 0.00001
NM_015346.4(ZFYVE26):c.936C>T (p.Ser312=) rs372840711 0.00001
NM_015346.4(ZFYVE26):c.966G>A (p.Val322=) rs764563280 0.00001
NM_015346.4(ZFYVE26):c.9T>C (p.His3=) rs904309189 0.00001
NM_020435.4(GJC2):c.303C>T (p.Arg101=) rs147954793 0.00001
NM_020435.4(GJC2):c.309C>T (p.Ala103=) rs746640254 0.00001
NM_020435.4(GJC2):c.453C>G (p.Gly151=) rs758276637 0.00001
NM_020435.4(GJC2):c.561G>A (p.Lys187=) rs1161650965 0.00001
NM_020435.4(GJC2):c.96G>A (p.Val32=) rs769772220 0.00001
NM_020944.3(GBA2):c.1129+10G>T rs764503157 0.00001
NM_020944.3(GBA2):c.1215C>T (p.Arg405=) rs966842217 0.00001
NM_020944.3(GBA2):c.1428C>T (p.Tyr476=) rs781075990 0.00001
NM_020944.3(GBA2):c.1452A>G (p.Leu484=) rs1484976956 0.00001
NM_020944.3(GBA2):c.2121G>A (p.Gly707=) rs746728147 0.00001
NM_020944.3(GBA2):c.2314-8C>T rs774358705 0.00001
NM_020944.3(GBA2):c.2454T>C (p.Asp818=) rs747616868 0.00001
NM_024306.5(FA2H):c.1060T>C (p.Leu354=) rs372391824 0.00001
NM_024306.5(FA2H):c.1086C>T (p.Leu362=) rs923262192 0.00001
NM_024306.5(FA2H):c.270+8C>T rs1159270463 0.00001
NM_024306.5(FA2H):c.285C>T (p.Asn95=) rs772718168 0.00001
NM_024306.5(FA2H):c.590G>A (p.Arg197Gln) rs771625273 0.00001
NM_024306.5(FA2H):c.600G>A (p.Thr200=) rs774718977 0.00001
NM_024306.5(FA2H):c.633C>T (p.Pro211=) rs761379296 0.00001
NM_024306.5(FA2H):c.786+17C>T rs776399428 0.00001
NM_024306.5(FA2H):c.831C>T (p.Ala277=) rs541507213 0.00001
NM_024306.5(FA2H):c.834C>T (p.Ser278=) rs890278057 0.00001
NM_183075.3(CYP2U1):c.1119T>C (p.Asp373=) rs146900161 0.00001
NM_183075.3(CYP2U1):c.1122A>T (p.Val374=) rs1452292041 0.00001
NM_183075.3(CYP2U1):c.318C>T (p.Leu106=) rs1233601038 0.00001
NM_183075.3(CYP2U1):c.648C>A (p.Asp216Glu) rs774149338 0.00001
NM_183075.3(CYP2U1):c.681C>T (p.Ala227=) rs760847189 0.00001
NM_183075.3(CYP2U1):c.888T>C (p.Ser296=) rs369116680 0.00001
NM_183075.3(CYP2U1):c.996T>C (p.Asn332=) rs746836401 0.00001
NM_183075.3(CYP2U1):c.99C>T (p.Ser33=) rs1322395741 0.00001
NM_001012301.4(ARSI):c.1098T>C (p.Asp366=)
NM_001012301.4(ARSI):c.1116C>T (p.Asp372=)
NM_001012301.4(ARSI):c.1158G>A (p.Thr386=)
NM_001012301.4(ARSI):c.1578T>C (p.Asp526=)
NM_001012301.4(ARSI):c.213C>G (p.Thr71=)
NM_001012301.4(ARSI):c.234G>A (p.Ala78=)
NM_001012301.4(ARSI):c.311+13C>T
NM_001012301.4(ARSI):c.510G>C (p.Ser170=) rs149029950
NM_001012301.4(ARSI):c.528C>T (p.Asp176=) rs2150320589
NM_001012301.4(ARSI):c.555C>T (p.Gly185=)
NM_001012301.4(ARSI):c.573C>T (p.Phe191=)
NM_001012301.4(ARSI):c.612C>T (p.Ser204=)
NM_001012301.4(ARSI):c.930G>A (p.Pro310=) rs140546154
NM_001128126.3(AP4S1):c.139-13G>T rs1267528530
NM_001128126.3(AP4S1):c.171G>A (p.Leu57=)
NM_001128126.3(AP4S1):c.225+12G>C
NM_001128126.3(AP4S1):c.226-19C>T
NM_001128126.3(AP4S1):c.226-9T>C
NM_001128126.3(AP4S1):c.295-13T>C
NM_001128126.3(AP4S1):c.295-16T>C
NM_001128126.3(AP4S1):c.306+4167T>C
NM_001128126.3(AP4S1):c.306+4179T>G rs1172170067
NM_001128126.3(AP4S1):c.306+4277C>T
NM_001128126.3(AP4S1):c.306+45C>T
NM_001128126.3(AP4S1):c.306+74G>A
NM_001128126.3(AP4S1):c.306+78G>A rs1887590681
NM_001128126.3(AP4S1):c.306T>C (p.Asp102=)
NM_001278116.2(L1CAM):c.1014G>A (p.Lys338=)
NM_001278116.2(L1CAM):c.102A>G (p.Pro34=)
NM_001278116.2(L1CAM):c.1074C>A (p.Gly358=)
NM_001278116.2(L1CAM):c.1101A>G (p.Arg367=)
NM_001278116.2(L1CAM):c.1117G>A (p.Val373Met)
NM_001278116.2(L1CAM):c.1123+12C>T
NM_001278116.2(L1CAM):c.1123+20G>A
NM_001278116.2(L1CAM):c.1124-10G>C rs2148497514
NM_001278116.2(L1CAM):c.1124-6G>T
NM_001278116.2(L1CAM):c.1124-9C>T
NM_001278116.2(L1CAM):c.1128G>A (p.Leu376=)
NM_001278116.2(L1CAM):c.1140G>C (p.Gln380His)
NM_001278116.2(L1CAM):c.1144T>G (p.Tyr382Asp)
NM_001278116.2(L1CAM):c.1158T>C (p.Arg386=) rs1603275708
NM_001278116.2(L1CAM):c.1165C>T (p.Leu389=)
NM_001278116.2(L1CAM):c.1167G>A (p.Leu389=)
NM_001278116.2(L1CAM):c.1170C>T (p.Ile390=)
NM_001278116.2(L1CAM):c.1226G>A (p.Arg409Gln)
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.1267+13C>T
NM_001278116.2(L1CAM):c.1267+17C>T
NM_001278116.2(L1CAM):c.1268-10C>G
NM_001278116.2(L1CAM):c.1268-11T>C
NM_001278116.2(L1CAM):c.1268-15C>T
NM_001278116.2(L1CAM):c.1268-16G>A
NM_001278116.2(L1CAM):c.1268-5C>T
NM_001278116.2(L1CAM):c.1292C>T (p.Ala431Val)
NM_001278116.2(L1CAM):c.12G>A (p.Ala4=)
NM_001278116.2(L1CAM):c.1325G>A (p.Ser442Asn)
NM_001278116.2(L1CAM):c.1335C>T (p.Tyr445=) rs1603275513
NM_001278116.2(L1CAM):c.1359G>C (p.Ala453=)
NM_001278116.2(L1CAM):c.1359G>T (p.Ala453=)
NM_001278116.2(L1CAM):c.1362T>A (p.Pro454=)
NM_001278116.2(L1CAM):c.1379+10_1379+32del
NM_001278116.2(L1CAM):c.1379+11C>G
NM_001278116.2(L1CAM):c.1379+11C>T
NM_001278116.2(L1CAM):c.1379+16T>A
NM_001278116.2(L1CAM):c.1379+20A>G
NM_001278116.2(L1CAM):c.1379+8T>A
NM_001278116.2(L1CAM):c.1380-16G>A
NM_001278116.2(L1CAM):c.1380-5T>C
NM_001278116.2(L1CAM):c.1380-6C>G
NM_001278116.2(L1CAM):c.1380-8C>T
NM_001278116.2(L1CAM):c.1395G>A (p.Gly465=)
NM_001278116.2(L1CAM):c.1396A>G (p.Thr466Ala)
NM_001278116.2(L1CAM):c.1422C>T (p.Phe474=)
NM_001278116.2(L1CAM):c.1434C>A (p.Ala478=)
NM_001278116.2(L1CAM):c.1434C>T (p.Ala478=)
NM_001278116.2(L1CAM):c.1449C>T (p.Gly483=)
NM_001278116.2(L1CAM):c.1454G>A (p.Arg485Gln)
NM_001278116.2(L1CAM):c.1461C>T (p.Leu487=)
NM_001278116.2(L1CAM):c.1464G>A (p.Gln488=)
NM_001278116.2(L1CAM):c.1473C>T (p.Asp491=)
NM_001278116.2(L1CAM):c.1476C>A (p.Thr492=)
NM_001278116.2(L1CAM):c.1479A>T (p.Gly493=)
NM_001278116.2(L1CAM):c.147C>A (p.Pro49=)
NM_001278116.2(L1CAM):c.1491C>T (p.Cys497=)
NM_001278116.2(L1CAM):c.1506C>T (p.Asp502=)
NM_001278116.2(L1CAM):c.1546+10C>A
NM_001278116.2(L1CAM):c.1546+15G>A
NM_001278116.2(L1CAM):c.1546+15G>T
NM_001278116.2(L1CAM):c.1546+9_1546+20del
NM_001278116.2(L1CAM):c.1547-11A>G
NM_001278116.2(L1CAM):c.1547-13G>A
NM_001278116.2(L1CAM):c.1547-17G>A
NM_001278116.2(L1CAM):c.1547-5C>T
NM_001278116.2(L1CAM):c.1567G>A (p.Gly523Arg)
NM_001278116.2(L1CAM):c.1595G>A (p.Gly532Asp)
NM_001278116.2(L1CAM):c.1596T>C (p.Gly532=)
NM_001278116.2(L1CAM):c.1603G>A (p.Val535Met)
NM_001278116.2(L1CAM):c.1614G>A (p.Thr538=)
NM_001278116.2(L1CAM):c.1638C>A (p.Ser546=)
NM_001278116.2(L1CAM):c.1641G>A (p.Leu547=)
NM_001278116.2(L1CAM):c.1661G>A (p.Arg554His)
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=)
NM_001278116.2(L1CAM):c.1677C>A (p.Asp559Glu)
NM_001278116.2(L1CAM):c.1677C>T (p.Asp559=)
NM_001278116.2(L1CAM):c.1680C>G (p.Leu560=)
NM_001278116.2(L1CAM):c.1703+13A>T
NM_001278116.2(L1CAM):c.1703+8C>T
NM_001278116.2(L1CAM):c.1704-13G>A
NM_001278116.2(L1CAM):c.1704-13G>C
NM_001278116.2(L1CAM):c.1719T>C (p.Asp573=)
NM_001278116.2(L1CAM):c.1731C>T (p.Val577=)
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn)
NM_001278116.2(L1CAM):c.1767C>T (p.Tyr589=)
NM_001278116.2(L1CAM):c.1774G>A (p.Val592Met)
NM_001278116.2(L1CAM):c.1779C>T (p.Ala593=)
NM_001278116.2(L1CAM):c.1809G>A (p.Arg603=)
NM_001278116.2(L1CAM):c.1829-11C>T
NM_001278116.2(L1CAM):c.1829-12C>T
NM_001278116.2(L1CAM):c.1829-15C>A
NM_001278116.2(L1CAM):c.1829-18G>A
NM_001278116.2(L1CAM):c.1829-18G>C
NM_001278116.2(L1CAM):c.1829-19C>T
NM_001278116.2(L1CAM):c.1829-6C>T
NM_001278116.2(L1CAM):c.1830G>A (p.Gly610=)
NM_001278116.2(L1CAM):c.1833C>T (p.Ser611=)
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=) rs2064729357
NM_001278116.2(L1CAM):c.1850G>A (p.Arg617Gln)
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
NM_001278116.2(L1CAM):c.1869G>C (p.Leu623=)
NM_001278116.2(L1CAM):c.1872C>T (p.His624=)
NM_001278116.2(L1CAM):c.1895G>A (p.Arg632His)
NM_001278116.2(L1CAM):c.1899G>T (p.Val633=)
NM_001278116.2(L1CAM):c.189C>T (p.Pro63=)
NM_001278116.2(L1CAM):c.190G>A (p.Glu64Lys)
NM_001278116.2(L1CAM):c.1927G>A (p.Ala643Thr)
NM_001278116.2(L1CAM):c.1929C>T (p.Ala643=)
NM_001278116.2(L1CAM):c.1939+20T>C
NM_001278116.2(L1CAM):c.1939+7G>A
NM_001278116.2(L1CAM):c.1940-13C>A
NM_001278116.2(L1CAM):c.1940-14T>C
NM_001278116.2(L1CAM):c.1940-16G>T
NM_001278116.2(L1CAM):c.1940-17G>T
NM_001278116.2(L1CAM):c.1940-8C>A
NM_001278116.2(L1CAM):c.1944T>C (p.Tyr648=)
NM_001278116.2(L1CAM):c.197+14G>A
NM_001278116.2(L1CAM):c.197+16C>T
NM_001278116.2(L1CAM):c.197+18T>C
NM_001278116.2(L1CAM):c.1974G>A (p.Ala658=)
NM_001278116.2(L1CAM):c.1974G>T (p.Ala658=)
NM_001278116.2(L1CAM):c.198-10C>T
NM_001278116.2(L1CAM):c.198-17C>A
NM_001278116.2(L1CAM):c.198-17C>G
NM_001278116.2(L1CAM):c.198-18G>T
NM_001278116.2(L1CAM):c.198-5C>T
NM_001278116.2(L1CAM):c.198-7C>G
NM_001278116.2(L1CAM):c.198-8G>A rs201664558
NM_001278116.2(L1CAM):c.198-8G>T
NM_001278116.2(L1CAM):c.2016G>A (p.Gln672=)
NM_001278116.2(L1CAM):c.2022T>C (p.Ser674=)
NM_001278116.2(L1CAM):c.2025C>T (p.Thr675=)
NM_001278116.2(L1CAM):c.2049C>T (p.Val683=)
NM_001278116.2(L1CAM):c.2058C>T (p.Thr686=) rs1603274965
NM_001278116.2(L1CAM):c.2070T>C (p.Thr690=)
NM_001278116.2(L1CAM):c.2094G>A (p.Gly698=)
NM_001278116.2(L1CAM):c.2095G>A (p.Glu699Lys)
NM_001278116.2(L1CAM):c.210G>A (p.Thr70=)
NM_001278116.2(L1CAM):c.2121G>A (p.Val707=)
NM_001278116.2(L1CAM):c.2130T>C (p.Pro710=)
NM_001278116.2(L1CAM):c.2137+11G>A
NM_001278116.2(L1CAM):c.2137+15C>T
NM_001278116.2(L1CAM):c.2137+18C>A
NM_001278116.2(L1CAM):c.2137+19C>T
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001278116.2(L1CAM):c.2138-18T>C
NM_001278116.2(L1CAM):c.2138-20G>A
NM_001278116.2(L1CAM):c.2138-21_2138-18dup
NM_001278116.2(L1CAM):c.2138-4C>G
NM_001278116.2(L1CAM):c.2166G>A (p.Lys722=)
NM_001278116.2(L1CAM):c.2184C>T (p.Thr728=)
NM_001278116.2(L1CAM):c.2201C>T (p.Thr734Met)
NM_001278116.2(L1CAM):c.2208+12T>C
NM_001278116.2(L1CAM):c.2209-10C>T
NM_001278116.2(L1CAM):c.2209-13T>C
NM_001278116.2(L1CAM):c.2209-9C>T rs201704250
NM_001278116.2(L1CAM):c.2211G>T (p.Pro737=)
NM_001278116.2(L1CAM):c.2214C>T (p.Leu738=)
NM_001278116.2(L1CAM):c.2216G>A (p.Arg739Gln)
NM_001278116.2(L1CAM):c.2217G>A (p.Arg739=)
NM_001278116.2(L1CAM):c.2222T>C (p.Met741Thr)
NM_001278116.2(L1CAM):c.2252G>A (p.Arg751His)
NM_001278116.2(L1CAM):c.2253C>T (p.Arg751=)
NM_001278116.2(L1CAM):c.225C>T (p.His75=)
NM_001278116.2(L1CAM):c.2274G>C (p.Gly758=) rs2071643
NM_001278116.2(L1CAM):c.2280A>G (p.Arg760=)
NM_001278116.2(L1CAM):c.2295G>A (p.Glu765=)
NM_001278116.2(L1CAM):c.2325G>A (p.Val775=)
NM_001278116.2(L1CAM):c.2340C>T (p.Thr780=) rs2064716807
NM_001278116.2(L1CAM):c.2344G>C (p.Val782Leu)
NM_001278116.2(L1CAM):c.2349C>T (p.Pro783=)
NM_001278116.2(L1CAM):c.2371G>A (p.Val791Ile)
NM_001278116.2(L1CAM):c.2382G>C (p.Gln794His)
NM_001278116.2(L1CAM):c.2401C>G (p.Gln801Glu)
NM_001278116.2(L1CAM):c.2427G>A (p.Glu809=)
NM_001278116.2(L1CAM):c.2431+10C>T
NM_001278116.2(L1CAM):c.2431+11G>A
NM_001278116.2(L1CAM):c.2431+11G>C
NM_001278116.2(L1CAM):c.2431+16G>C
NM_001278116.2(L1CAM):c.2431+20C>T
NM_001278116.2(L1CAM):c.2475C>A (p.Asn825Lys)
NM_001278116.2(L1CAM):c.2485G>A (p.Val829Met)
NM_001278116.2(L1CAM):c.2501G>A (p.Arg834Gln)
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His) rs149737236
NM_001278116.2(L1CAM):c.2547+12A>C
NM_001278116.2(L1CAM):c.2547+14G>C
NM_001278116.2(L1CAM):c.2547+14G>T
NM_001278116.2(L1CAM):c.2548-10G>A
NM_001278116.2(L1CAM):c.2548-14G>A
NM_001278116.2(L1CAM):c.2548-4G>C
NM_001278116.2(L1CAM):c.2553G>C (p.Thr851=)
NM_001278116.2(L1CAM):c.2562G>A (p.Arg854=)
NM_001278116.2(L1CAM):c.2574G>A (p.Gln858=)
NM_001278116.2(L1CAM):c.2616G>A (p.Val872=)
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr)
NM_001278116.2(L1CAM):c.2627A>G (p.Asn876Ser)
NM_001278116.2(L1CAM):c.2643C>T (p.Ile881=)
NM_001278116.2(L1CAM):c.2676C>T (p.His892=)
NM_001278116.2(L1CAM):c.267G>C (p.Ser89=)
NM_001278116.2(L1CAM):c.267G>T (p.Ser89=) rs782641422
NM_001278116.2(L1CAM):c.2691C>T (p.Ala897=)
NM_001278116.2(L1CAM):c.269C>T (p.Pro90Leu)
NM_001278116.2(L1CAM):c.2702G>A (p.Arg901Gln)
NM_001278116.2(L1CAM):c.2709G>C (p.Ser903=) rs146224667
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=)
NM_001278116.2(L1CAM):c.273C>T (p.His91=)
NM_001278116.2(L1CAM):c.2742A>T (p.Pro914=)
NM_001278116.2(L1CAM):c.2749+14C>T
NM_001278116.2(L1CAM):c.2749+16C>T
NM_001278116.2(L1CAM):c.2749+19G>A
NM_001278116.2(L1CAM):c.2749+19G>T
NM_001278116.2(L1CAM):c.2750-20C>T
NM_001278116.2(L1CAM):c.2750-6C>T
NM_001278116.2(L1CAM):c.2750-7C>T
NM_001278116.2(L1CAM):c.2756G>A (p.Gly919Asp)
NM_001278116.2(L1CAM):c.2769G>A (p.Ala923=)
NM_001278116.2(L1CAM):c.2775C>T (p.His925=)
NM_001278116.2(L1CAM):c.2802G>A (p.Leu934=)
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys)
NM_001278116.2(L1CAM):c.2829C>T (p.Ser943=)
NM_001278116.2(L1CAM):c.2835C>T (p.Asn945=)
NM_001278116.2(L1CAM):c.2839G>A (p.Val947Met)
NM_001278116.2(L1CAM):c.2847C>T (p.Thr949=)
NM_001278116.2(L1CAM):c.2872+11C>T
NM_001278116.2(L1CAM):c.2872+12G>A
NM_001278116.2(L1CAM):c.2872+14C>T
NM_001278116.2(L1CAM):c.2872+8C>T
NM_001278116.2(L1CAM):c.2873-13T>C
NM_001278116.2(L1CAM):c.2873-16_2873-15del
NM_001278116.2(L1CAM):c.2873-19C>T
NM_001278116.2(L1CAM):c.2873-4A>G
NM_001278116.2(L1CAM):c.2873-7C>A
NM_001278116.2(L1CAM):c.2877T>G (p.Asp959Glu)
NM_001278116.2(L1CAM):c.2880G>A (p.Glu960=)
NM_001278116.2(L1CAM):c.2892G>A (p.Gly964=)
NM_001278116.2(L1CAM):c.2892G>T (p.Gly964=)
NM_001278116.2(L1CAM):c.2912G>A (p.Arg971Gln)
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys)
NM_001278116.2(L1CAM):c.2927G>A (p.Arg976Gln)
NM_001278116.2(L1CAM):c.2940G>A (p.Leu980=)
NM_001278116.2(L1CAM):c.2942C>T (p.Thr981Ile)
NM_001278116.2(L1CAM):c.2943C>A (p.Thr981=)
NM_001278116.2(L1CAM):c.2943C>T (p.Thr981=)
NM_001278116.2(L1CAM):c.2944G>A (p.Asp982Asn)
NM_001278116.2(L1CAM):c.2985C>T (p.Ala995=)
NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=) rs200863731
NM_001278116.2(L1CAM):c.3012C>T (p.Ala1004=)
NM_001278116.2(L1CAM):c.3020G>A (p.Arg1007Gln)
NM_001278116.2(L1CAM):c.3039C>T (p.Ala1013=)
NM_001278116.2(L1CAM):c.3046+20T>A rs2148493535
NM_001278116.2(L1CAM):c.3046+9G>A
NM_001278116.2(L1CAM):c.3048G>A (p.Gly1016=)
NM_001278116.2(L1CAM):c.3048G>C (p.Gly1016=)
NM_001278116.2(L1CAM):c.3056A>G (p.Asp1019Gly)
NM_001278116.2(L1CAM):c.3069C>T (p.Ile1023=)
NM_001278116.2(L1CAM):c.3078A>G (p.Thr1026=)
NM_001278116.2(L1CAM):c.3159C>T (p.Ala1053=)
NM_001278116.2(L1CAM):c.3166+13G>A
NM_001278116.2(L1CAM):c.3166+15G>C
NM_001278116.2(L1CAM):c.3166+16G>A
NM_001278116.2(L1CAM):c.3166+7G>A
NM_001278116.2(L1CAM):c.3167-13C>T
NM_001278116.2(L1CAM):c.3174G>A (p.Lys1058=)
NM_001278116.2(L1CAM):c.317A>G (p.Gln106Arg)
NM_001278116.2(L1CAM):c.3192G>A (p.Ser1064=)
NM_001278116.2(L1CAM):c.3227C>T (p.Thr1076Met)
NM_001278116.2(L1CAM):c.3238C>T (p.Leu1080=) rs1184309171
NM_001278116.2(L1CAM):c.3254A>G (p.Asp1085Gly)
NM_001278116.2(L1CAM):c.3264C>A (p.Ile1088=)
NM_001278116.2(L1CAM):c.3267C>T (p.His1089=) rs2148493212
NM_001278116.2(L1CAM):c.3268T>C (p.Leu1090=)
NM_001278116.2(L1CAM):c.3289C>T (p.Arg1097Trp)
NM_001278116.2(L1CAM):c.3296A>G (p.Gln1099Arg)
NM_001278116.2(L1CAM):c.3300G>A (p.Met1100Ile)
NM_001278116.2(L1CAM):c.3322+14G>A
NM_001278116.2(L1CAM):c.3322+7C>T
NM_001278116.2(L1CAM):c.3323-11C>T
NM_001278116.2(L1CAM):c.3323-13G>A
NM_001278116.2(L1CAM):c.3323-14T>C
NM_001278116.2(L1CAM):c.3323-15G>A
NM_001278116.2(L1CAM):c.3323-18C>A
NM_001278116.2(L1CAM):c.3323-19G>A
NM_001278116.2(L1CAM):c.3334C>T (p.Leu1112Phe)
NM_001278116.2(L1CAM):c.3348C>T (p.Gly1116=)
NM_001278116.2(L1CAM):c.3351C>T (p.Phe1117=)
NM_001278116.2(L1CAM):c.3373G>A (p.Gly1125Ser)
NM_001278116.2(L1CAM):c.337C>T (p.Arg113Cys)
NM_001278116.2(L1CAM):c.3396C>T (p.Leu1132=)
NM_001278116.2(L1CAM):c.33C>G (p.Leu11=) rs199910719
NM_001278116.2(L1CAM):c.3405C>T (p.Leu1135=)
NM_001278116.2(L1CAM):c.3408C>T (p.Val1136=)
NM_001278116.2(L1CAM):c.3414C>T (p.Leu1138=)
NM_001278116.2(L1CAM):c.3432G>A (p.Lys1144=)
NM_001278116.2(L1CAM):c.3435C>A (p.Arg1145=)
NM_001278116.2(L1CAM):c.3457+12G>A
NM_001278116.2(L1CAM):c.3457+13C>T
NM_001278116.2(L1CAM):c.3457+19G>A
NM_001278116.2(L1CAM):c.3458-18C>G
NM_001278116.2(L1CAM):c.3458-8G>A
NM_001278116.2(L1CAM):c.3458-9T>C
NM_001278116.2(L1CAM):c.3474C>T (p.Asp1158=)
NM_001278116.2(L1CAM):c.3477C>A (p.Thr1159=)
NM_001278116.2(L1CAM):c.3477C>G (p.Thr1159=)
NM_001278116.2(L1CAM):c.348C>T (p.Ala116=)
NM_001278116.2(L1CAM):c.3501G>A (p.Pro1167=)
NM_001278116.2(L1CAM):c.3522C>G (p.Gly1174=)
NM_001278116.2(L1CAM):c.3530+11G>A
NM_001278116.2(L1CAM):c.3530+17G>A
NM_001278116.2(L1CAM):c.3530+18T>C
NM_001278116.2(L1CAM):c.3530+7C>T
NM_001278116.2(L1CAM):c.3531-20G>C
NM_001278116.2(L1CAM):c.3542+11G>A
NM_001278116.2(L1CAM):c.3542+11G>T
NM_001278116.2(L1CAM):c.3542+15G>A
NM_001278116.2(L1CAM):c.3543-13T>C
NM_001278116.2(L1CAM):c.3543-14C>G
NM_001278116.2(L1CAM):c.3543-16C>T
NM_001278116.2(L1CAM):c.3543-9C>T
NM_001278116.2(L1CAM):c.3572G>C (p.Ser1191Thr)
NM_001278116.2(L1CAM):c.3582G>A (p.Ser1194=)
NM_001278116.2(L1CAM):c.3588C>A (p.Asn1196Lys) rs782086274
NM_001278116.2(L1CAM):c.3591G>A (p.Gly1197=) rs2064675485
NM_001278116.2(L1CAM):c.3606G>A (p.Leu1202=)
NM_001278116.2(L1CAM):c.3618C>T (p.Asp1206=)
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=)
NM_001278116.2(L1CAM):c.3639C>T (p.Gly1213=)
NM_001278116.2(L1CAM):c.3648T>C (p.Asp1216=)
NM_001278116.2(L1CAM):c.3657C>T (p.Phe1219=)
NM_001278116.2(L1CAM):c.3663G>A (p.Glu1221=)
NM_001278116.2(L1CAM):c.3675C>T (p.Phe1225=)
NM_001278116.2(L1CAM):c.3681C>A (p.Gly1227=)
NM_001278116.2(L1CAM):c.3693C>A (p.Gly1231=)
NM_001278116.2(L1CAM):c.3698A>G (p.Lys1233Arg)
NM_001278116.2(L1CAM):c.369C>T (p.Ala123=)
NM_001278116.2(L1CAM):c.3702G>A (p.Glu1234=) rs1315137274
NM_001278116.2(L1CAM):c.3708G>A (p.Glu1236=)
NM_001278116.2(L1CAM):c.370A>G (p.Met124Val)
NM_001278116.2(L1CAM):c.3744C>T (p.Ser1248=)
NM_001278116.2(L1CAM):c.3759C>T (p.Ala1253=)
NM_001278116.2(L1CAM):c.3766C>T (p.Leu1256=)
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
NM_001278116.2(L1CAM):c.393G>A (p.Met131Ile)
NM_001278116.2(L1CAM):c.396C>G (p.Ala132=)
NM_001278116.2(L1CAM):c.400+10G>C
NM_001278116.2(L1CAM):c.400+11C>T
NM_001278116.2(L1CAM):c.400+12T>C
NM_001278116.2(L1CAM):c.400+14C>T
NM_001278116.2(L1CAM):c.400+19A>G
NM_001278116.2(L1CAM):c.401-15G>A
NM_001278116.2(L1CAM):c.401-17C>T
NM_001278116.2(L1CAM):c.405C>A (p.Ala135=)
NM_001278116.2(L1CAM):c.405C>T (p.Ala135=)
NM_001278116.2(L1CAM):c.409A>C (p.Lys137Gln)
NM_001278116.2(L1CAM):c.433C>T (p.Pro145Ser)
NM_001278116.2(L1CAM):c.435C>A (p.Pro145=)
NM_001278116.2(L1CAM):c.435C>G (p.Pro145=)
NM_001278116.2(L1CAM):c.444G>T (p.Val148=)
NM_001278116.2(L1CAM):c.447G>A (p.Glu149=)
NM_001278116.2(L1CAM):c.450A>G (p.Glu150=)
NM_001278116.2(L1CAM):c.510C>T (p.Tyr170=) rs2148498993
NM_001278116.2(L1CAM):c.523+10G>T rs199936251
NM_001278116.2(L1CAM):c.523+16C>A
NM_001278116.2(L1CAM):c.523+16C>T rs1057523154
NM_001278116.2(L1CAM):c.523+7G>T
NM_001278116.2(L1CAM):c.524-14C>T
NM_001278116.2(L1CAM):c.524-6C>T
NM_001278116.2(L1CAM):c.524-8C>T
NM_001278116.2(L1CAM):c.524-9C>A
NM_001278116.2(L1CAM):c.550C>A (p.Arg184=)
NM_001278116.2(L1CAM):c.558G>A (p.Thr186=)
NM_001278116.2(L1CAM):c.558G>C (p.Thr186=) rs782773215
NM_001278116.2(L1CAM):c.585T>C (p.Phe195=)
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) rs782223025
NM_001278116.2(L1CAM):c.60C>A (p.Ile20=)
NM_001278116.2(L1CAM):c.633C>T (p.Ala211=)
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
NM_001278116.2(L1CAM):c.694+10A>T
NM_001278116.2(L1CAM):c.694+11G>C
NM_001278116.2(L1CAM):c.694+20_694+32del rs781871285
NM_001278116.2(L1CAM):c.695-14C>A
NM_001278116.2(L1CAM):c.695-19A>C
NM_001278116.2(L1CAM):c.695-19_695-17dup
NM_001278116.2(L1CAM):c.695-8C>T rs782636050
NM_001278116.2(L1CAM):c.696C>G (p.Thr232=)
NM_001278116.2(L1CAM):c.726G>A (p.Leu242=) rs200813995
NM_001278116.2(L1CAM):c.735C>T (p.Pro245=)
NM_001278116.2(L1CAM):c.736A>G (p.Thr246Ala)
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr) rs782163019
NM_001278116.2(L1CAM):c.747C>T (p.Ser249=)
NM_001278116.2(L1CAM):c.76+15G>A
NM_001278116.2(L1CAM):c.76+9C>A
NM_001278116.2(L1CAM):c.77-5C>T
NM_001278116.2(L1CAM):c.774G>A (p.Gln258=)
NM_001278116.2(L1CAM):c.777A>G (p.Pro259=)
NM_001278116.2(L1CAM):c.798C>G (p.Ala266=)
NM_001278116.2(L1CAM):c.799G>A (p.Glu267Lys)
NM_001278116.2(L1CAM):c.804C>A (p.Gly268=)
NM_001278116.2(L1CAM):c.806+10G>C
NM_001278116.2(L1CAM):c.806+14C>A rs782485382
NM_001278116.2(L1CAM):c.806+15C>T
NM_001278116.2(L1CAM):c.806+16C>G
NM_001278116.2(L1CAM):c.806+20G>A
NM_001278116.2(L1CAM):c.806+20G>T
NM_001278116.2(L1CAM):c.806+8T>A
NM_001278116.2(L1CAM):c.807-16T>G rs2148498075
NM_001278116.2(L1CAM):c.807-17C>T
NM_001278116.2(L1CAM):c.807-7C>G
NM_001278116.2(L1CAM):c.807-7C>T rs782340959
NM_001278116.2(L1CAM):c.813G>C (p.Thr271=)
NM_001278116.2(L1CAM):c.816C>T (p.Pro272=)
NM_001278116.2(L1CAM):c.844C>T (p.Pro282Ser)
NM_001278116.2(L1CAM):c.84A>G (p.Gly28=)
NM_001278116.2(L1CAM):c.876C>T (p.Asn292=)
NM_001278116.2(L1CAM):c.882C>T (p.Asn294=) rs2148497959
NM_001278116.2(L1CAM):c.886A>G (p.Thr296Ala)
NM_001278116.2(L1CAM):c.888C>T (p.Thr296=)
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
NM_001278116.2(L1CAM):c.900G>A (p.Leu300=)
NM_001278116.2(L1CAM):c.909C>A (p.Gly303=)
NM_001278116.2(L1CAM):c.91+13G>A
NM_001278116.2(L1CAM):c.91+16G>T
NM_001278116.2(L1CAM):c.91+19A>G
NM_001278116.2(L1CAM):c.91+7del
NM_001278116.2(L1CAM):c.92-17C>G
NM_001278116.2(L1CAM):c.92-19C>G
NM_001278116.2(L1CAM):c.92-9T>C
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys)
NM_001278116.2(L1CAM):c.942C>T (p.Ala314=) rs1569544829
NM_001278116.2(L1CAM):c.969T>C (p.His323=)
NM_001278116.2(L1CAM):c.991+8C>A
NM_001278116.2(L1CAM):c.992-10T>C
NM_001278116.2(L1CAM):c.992-14C>T
NM_001278116.2(L1CAM):c.992-5C>G
NM_001278116.2(L1CAM):c.992-9T>C
NM_001278116.2(L1CAM):c.996C>T (p.Ala332=)
NM_001278116.2(L1CAM):c.999G>A (p.Pro333=)
NM_001385875.1(ZFYVE27):c.1038C>T (p.Asn346=) rs929996326
NM_001385875.1(ZFYVE27):c.1042+11G>A
NM_001385875.1(ZFYVE27):c.1089+11G>A
NM_001385875.1(ZFYVE27):c.1171+9T>A
NM_001385875.1(ZFYVE27):c.18T>C (p.Arg6=)
NM_001385875.1(ZFYVE27):c.234G>C (p.Leu78=)
NM_001385875.1(ZFYVE27):c.315G>C (p.Leu105=)
NM_001385875.1(ZFYVE27):c.360C>G (p.Ser120=)
NM_001385875.1(ZFYVE27):c.456-18A>C
NM_001385875.1(ZFYVE27):c.720G>A (p.Glu240=)
NM_001385875.1(ZFYVE27):c.894G>A (p.Val298=)
NM_001385875.1(ZFYVE27):c.897+12C>G
NM_001385875.1(ZFYVE27):c.909G>A (p.Glu303=) rs753887094
NM_001478.5(B4GALNT1):c.1003-17A>T
NM_001478.5(B4GALNT1):c.1035T>C (p.Ser345=)
NM_001478.5(B4GALNT1):c.1059G>A (p.Leu353=) rs2140244526
NM_001478.5(B4GALNT1):c.1101G>T (p.Leu367=)
NM_001478.5(B4GALNT1):c.1143+11G>C
NM_001478.5(B4GALNT1):c.1143+7del
NM_001478.5(B4GALNT1):c.1143+8A>C
NM_001478.5(B4GALNT1):c.1170C>T (p.Ser390=)
NM_001478.5(B4GALNT1):c.123G>T (p.Ala41=)
NM_001478.5(B4GALNT1):c.1272C>A (p.Val424=)
NM_001478.5(B4GALNT1):c.1272C>G (p.Val424=) rs143066025
NM_001478.5(B4GALNT1):c.1344G>A (p.Glu448=)
NM_001478.5(B4GALNT1):c.1410C>T (p.Ser470=)
NM_001478.5(B4GALNT1):c.1434C>T (p.Asp478=) rs1060504132
NM_001478.5(B4GALNT1):c.1437C>T (p.Val479=)
NM_001478.5(B4GALNT1):c.1455C>T (p.Ser485=)
NM_001478.5(B4GALNT1):c.1470T>C (p.Pro490=)
NM_001478.5(B4GALNT1):c.1488C>T (p.Ala496=)
NM_001478.5(B4GALNT1):c.1509G>A (p.Arg503=)
NM_001478.5(B4GALNT1):c.1533C>T (p.Asp511=)
NM_001478.5(B4GALNT1):c.1557G>C (p.Arg519=)
NM_001478.5(B4GALNT1):c.201C>A (p.Ile67=) rs2140253666
NM_001478.5(B4GALNT1):c.218+15C>A
NM_001478.5(B4GALNT1):c.218+19G>A
NM_001478.5(B4GALNT1):c.218+8C>G rs992874980
NM_001478.5(B4GALNT1):c.218+9_218+15del rs1555186865
NM_001478.5(B4GALNT1):c.219-8C>G
NM_001478.5(B4GALNT1):c.219-8C>T rs1384962385
NM_001478.5(B4GALNT1):c.219-9C>T
NM_001478.5(B4GALNT1):c.261G>A (p.Gly87=)
NM_001478.5(B4GALNT1):c.261G>T (p.Gly87=)
NM_001478.5(B4GALNT1):c.264C>G (p.Gly88=)
NM_001478.5(B4GALNT1):c.303C>T (p.Asp101=) rs772156754
NM_001478.5(B4GALNT1):c.354A>G (p.Arg118=)
NM_001478.5(B4GALNT1):c.384-12C>T
NM_001478.5(B4GALNT1):c.399T>G (p.Ala133=) rs1555186659
NM_001478.5(B4GALNT1):c.417C>G (p.Ala139=)
NM_001478.5(B4GALNT1):c.447A>T (p.Leu149=)
NM_001478.5(B4GALNT1):c.495G>A (p.Leu165=)
NM_001478.5(B4GALNT1):c.501T>A (p.Leu167=) rs555296589
NM_001478.5(B4GALNT1):c.512C>T (p.Ser171Phe) rs759353736
NM_001478.5(B4GALNT1):c.525A>G (p.Val175=) rs772772260
NM_001478.5(B4GALNT1):c.564C>T (p.Asp188=)
NM_001478.5(B4GALNT1):c.57G>T (p.Ser19=)
NM_001478.5(B4GALNT1):c.591T>G (p.Thr197=) rs946094090
NM_001478.5(B4GALNT1):c.658C>T (p.Leu220=) rs2140249188
NM_001478.5(B4GALNT1):c.664C>T (p.Leu222=)
NM_001478.5(B4GALNT1):c.684A>G (p.Arg228=)
NM_001478.5(B4GALNT1):c.712+13G>A
NM_001478.5(B4GALNT1):c.712+17G>T
NM_001478.5(B4GALNT1):c.760A>C (p.Arg254=) rs1230537675
NM_001478.5(B4GALNT1):c.780G>A (p.Arg260=)
NM_001478.5(B4GALNT1):c.7C>T (p.Leu3=)
NM_001478.5(B4GALNT1):c.811+17C>T
NM_001478.5(B4GALNT1):c.812-12C>T
NM_001478.5(B4GALNT1):c.812-14G>A
NM_001478.5(B4GALNT1):c.812-16G>A
NM_001478.5(B4GALNT1):c.832C>T (p.Leu278=)
NM_001478.5(B4GALNT1):c.849C>T (p.Thr283=)
NM_001478.5(B4GALNT1):c.870T>C (p.Asp290=)
NM_001478.5(B4GALNT1):c.903C>T (p.Arg301=)
NM_001478.5(B4GALNT1):c.912A>G (p.Pro304=) rs1594981439
NM_001478.5(B4GALNT1):c.957C>T (p.Arg319=)
NM_002156.5(HSPD1):c.1029A>G (p.Gly343=) rs1433866863
NM_002156.5(HSPD1):c.1059C>T (p.Asp353=)
NM_002156.5(HSPD1):c.1215+17T>A rs1235751492
NM_002156.5(HSPD1):c.1224G>A (p.Gly408=)
NM_002156.5(HSPD1):c.132A>G (p.Val44=)
NM_002156.5(HSPD1):c.1390+11dup rs2106070845
NM_002156.5(HSPD1):c.1390+15T>C
NM_002156.5(HSPD1):c.1391-15G>A
NM_002156.5(HSPD1):c.1391-17C>T
NM_002156.5(HSPD1):c.1392T>C (p.Gly464=)
NM_002156.5(HSPD1):c.1434C>T (p.Thr478=)
NM_002156.5(HSPD1):c.1497A>C (p.Ser499=)
NM_002156.5(HSPD1):c.1569+10T>A
NM_002156.5(HSPD1):c.1569+11G>C
NM_002156.5(HSPD1):c.1569+19T>G
NM_002156.5(HSPD1):c.156C>A (p.Ala52=)
NM_002156.5(HSPD1):c.1570-12A>T
NM_002156.5(HSPD1):c.1585T>C (p.Leu529=)
NM_002156.5(HSPD1):c.1612C>T (p.Leu538=)
NM_002156.5(HSPD1):c.1689_1700dup (p.565GGGM[3]) rs535634000
NM_002156.5(HSPD1):c.1701T>C (p.Gly567=)
NM_002156.5(HSPD1):c.174+19T>C rs1398951749
NM_002156.5(HSPD1):c.174+7G>A
NM_002156.5(HSPD1):c.175-10T>C rs2106079354
NM_002156.5(HSPD1):c.175-12T>C rs2106079360
NM_002156.5(HSPD1):c.175-18T>C
NM_002156.5(HSPD1):c.175-48_175-11del
NM_002156.5(HSPD1):c.27C>A (p.Arg9=) rs11551349
NM_002156.5(HSPD1):c.366T>A (p.Ser122=)
NM_002156.5(HSPD1):c.36A>G (p.Arg12=)
NM_002156.5(HSPD1):c.427+16G>A
NM_002156.5(HSPD1):c.427+9G>A
NM_002156.5(HSPD1):c.428-20G>A
NM_002156.5(HSPD1):c.477T>C (p.Ser159=) rs1333403005
NM_002156.5(HSPD1):c.510+11_510+15del
NM_002156.5(HSPD1):c.510+14A>C
NM_002156.5(HSPD1):c.510+20C>A
NM_002156.5(HSPD1):c.510+20C>T
NM_002156.5(HSPD1):c.510+8C>T rs553299722
NM_002156.5(HSPD1):c.576A>G (p.Lys192=)
NM_002156.5(HSPD1):c.594C>T (p.Val198=)
NM_002156.5(HSPD1):c.606+5GT[2]
NM_002156.5(HSPD1):c.607-7T>C
NM_002156.5(HSPD1):c.663A>C (p.Arg221=)
NM_002156.5(HSPD1):c.678A>G (p.Pro226=)
NM_002156.5(HSPD1):c.6T>A (p.Leu2=) rs2106081166
NM_002156.5(HSPD1):c.700+15A>G
NM_002156.5(HSPD1):c.858C>T (p.Leu286=)
NM_002156.5(HSPD1):c.869+10A>T
NM_002156.5(HSPD1):c.869+18T>C
NM_002156.5(HSPD1):c.869+8G>C
NM_002156.5(HSPD1):c.924T>C (p.Asn308=)
NM_002156.5(HSPD1):c.969+17T>A
NM_002156.5(HSPD1):c.969+18G>A
NM_002156.5(HSPD1):c.970-16T>G
NM_002156.5(HSPD1):c.970-9T>C
NM_002156.5(HSPD1):c.994C>T (p.Leu332=)
NM_004187.5(KDM5C):c.1044C>T (p.Asn348=) rs1556850817
NM_004187.5(KDM5C):c.1077T>G (p.Pro359=)
NM_004187.5(KDM5C):c.1095C>A (p.Val365=) rs782322479
NM_004187.5(KDM5C):c.1122+14A>T rs1556850730
NM_004187.5(KDM5C):c.1123-12T>A
NM_004187.5(KDM5C):c.1140A>G (p.Pro380=)
NM_004187.5(KDM5C):c.1242+10G>A
NM_004187.5(KDM5C):c.1242+18G>A
NM_004187.5(KDM5C):c.1243-5C>T
NM_004187.5(KDM5C):c.1389C>A (p.Thr463=)
NM_004187.5(KDM5C):c.1392C>G (p.Pro464=)
NM_004187.5(KDM5C):c.1401+14del rs2073556482
NM_004187.5(KDM5C):c.1476A>G (p.Ala492=)
NM_004187.5(KDM5C):c.150+10G>A
NM_004187.5(KDM5C):c.150+16G>T
NM_004187.5(KDM5C):c.1500C>G (p.Pro500=)
NM_004187.5(KDM5C):c.151-18C>T
NM_004187.5(KDM5C):c.1578C>A (p.Leu526=)
NM_004187.5(KDM5C):c.1653G>A (p.Lys551=)
NM_004187.5(KDM5C):c.1668A>G (p.Leu556=)
NM_004187.5(KDM5C):c.1680G>A (p.Gln560=)
NM_004187.5(KDM5C):c.1689C>T (p.Leu563=)
NM_004187.5(KDM5C):c.1746+10C>T
NM_004187.5(KDM5C):c.1747-20T>C
NM_004187.5(KDM5C):c.1749T>G (p.Val583=) rs1388314061
NM_004187.5(KDM5C):c.1785C>T (p.Ile595=)
NM_004187.5(KDM5C):c.1914A>G (p.Arg638=)
NM_004187.5(KDM5C):c.197C>T (p.Thr66Ile)
NM_004187.5(KDM5C):c.2004G>A (p.Lys668=)
NM_004187.5(KDM5C):c.2062-15G>T rs2146853123
NM_004187.5(KDM5C):c.2062-9T>C
NM_004187.5(KDM5C):c.2139G>A (p.Thr713=)
NM_004187.5(KDM5C):c.2160C>T (p.Ala720=)
NM_004187.5(KDM5C):c.2175A>G (p.Pro725=)
NM_004187.5(KDM5C):c.2280G>A (p.Leu760=)
NM_004187.5(KDM5C):c.2368+10G>T
NM_004187.5(KDM5C):c.2368+16G>T
NM_004187.5(KDM5C):c.2368+7G>A rs1242109640
NM_004187.5(KDM5C):c.2368+9dup
NM_004187.5(KDM5C):c.237G>A (p.Thr79=)
NM_004187.5(KDM5C):c.2386G>A (p.Ala796Thr)
NM_004187.5(KDM5C):c.2517-9A>C rs1602172992
NM_004187.5(KDM5C):c.2547C>A (p.Thr849=)
NM_004187.5(KDM5C):c.2586C>T (p.Asn862=)
NM_004187.5(KDM5C):c.2622+14G>C
NM_004187.5(KDM5C):c.2622+15A>G
NM_004187.5(KDM5C):c.2622+8C>T
NM_004187.5(KDM5C):c.2622+9G>A
NM_004187.5(KDM5C):c.2623-18C>T
NM_004187.5(KDM5C):c.2745G>A (p.Val915=) rs1440517448
NM_004187.5(KDM5C):c.2763C>A (p.Leu921=)
NM_004187.5(KDM5C):c.2784G>A (p.Ala928=)
NM_004187.5(KDM5C):c.27A>T (p.Leu9=) rs782623346
NM_004187.5(KDM5C):c.2817C>T (p.Ala939=)
NM_004187.5(KDM5C):c.2835C>T (p.Gly945=)
NM_004187.5(KDM5C):c.2838C>T (p.Thr946=)
NM_004187.5(KDM5C):c.2851C>A (p.Arg951=)
NM_004187.5(KDM5C):c.2865C>T (p.Val955=)
NM_004187.5(KDM5C):c.2919G>A (p.Leu973=) rs1934884363
NM_004187.5(KDM5C):c.2934C>A (p.Thr978=)
NM_004187.5(KDM5C):c.2981+12T>C
NM_004187.5(KDM5C):c.3066C>G (p.Leu1022=)
NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp) rs782388435
NM_004187.5(KDM5C):c.3121-14G>A
NM_004187.5(KDM5C):c.3183A>G (p.Leu1061=)
NM_004187.5(KDM5C):c.3276A>G (p.Lys1092=) rs1230365386
NM_004187.5(KDM5C):c.3300+19A>C rs1227471798
NM_004187.5(KDM5C):c.3301-17T>C
NM_004187.5(KDM5C):c.3301-22CT[2]
NM_004187.5(KDM5C):c.3367C>T (p.Leu1123=)
NM_004187.5(KDM5C):c.3372G>A (p.Gly1124=)
NM_004187.5(KDM5C):c.3387C>T (p.Asp1129=)
NM_004187.5(KDM5C):c.3402G>A (p.Gly1134=)
NM_004187.5(KDM5C):c.3439-16G>A
NM_004187.5(KDM5C):c.3490C>T (p.Leu1164=) rs2146823630
NM_004187.5(KDM5C):c.3498C>G (p.Arg1166=)
NM_004187.5(KDM5C):c.3507G>A (p.Ser1169=)
NM_004187.5(KDM5C):c.352-12T>G
NM_004187.5(KDM5C):c.3534G>C (p.Ser1178=)
NM_004187.5(KDM5C):c.3591G>A (p.Ala1197=)
NM_004187.5(KDM5C):c.3660C>G (p.Leu1220=) rs373545419
NM_004187.5(KDM5C):c.3669G>A (p.Pro1223=) rs2146822099
NM_004187.5(KDM5C):c.3675C>T (p.Pro1225=)
NM_004187.5(KDM5C):c.3722A>G (p.Lys1241Arg)
NM_004187.5(KDM5C):c.3736C>T (p.Leu1246=)
NM_004187.5(KDM5C):c.3777G>A (p.Leu1259=)
NM_004187.5(KDM5C):c.3780A>G (p.Ala1260=)
NM_004187.5(KDM5C):c.3814C>T (p.Leu1272=)
NM_004187.5(KDM5C):c.381T>C (p.Ala127=) rs1602230535
NM_004187.5(KDM5C):c.3855C>T (p.Ala1285=)
NM_004187.5(KDM5C):c.3858C>T (p.Ile1286=)
NM_004187.5(KDM5C):c.3903G>A (p.Val1301=)
NM_004187.5(KDM5C):c.3918A>G (p.Gly1306=) rs1602161271
NM_004187.5(KDM5C):c.3930G>A (p.Glu1310=)
NM_004187.5(KDM5C):c.3945A>G (p.Leu1315=)
NM_004187.5(KDM5C):c.3954A>G (p.Glu1318=)
NM_004187.5(KDM5C):c.4038+7T>C
NM_004187.5(KDM5C):c.4039-17C>G
NM_004187.5(KDM5C):c.4095G>A (p.Pro1365=)
NM_004187.5(KDM5C):c.4103G>C (p.Gly1368Ala)
NM_004187.5(KDM5C):c.4118-14C>T
NM_004187.5(KDM5C):c.4218G>C (p.Gly1406=)
NM_004187.5(KDM5C):c.423C>T (p.Leu141=)
NM_004187.5(KDM5C):c.4317+20G>A
NM_004187.5(KDM5C):c.4317+5dup rs1368038420
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004187.5(KDM5C):c.4381C>T (p.Arg1461Trp)
NM_004187.5(KDM5C):c.4386G>A (p.Lys1462=)
NM_004187.5(KDM5C):c.4473G>A (p.Glu1491=) rs2146812324
NM_004187.5(KDM5C):c.4494G>A (p.Leu1498=)
NM_004187.5(KDM5C):c.4524T>C (p.Pro1508=)
NM_004187.5(KDM5C):c.4562A>G (p.Glu1521Gly)
NM_004187.5(KDM5C):c.456G>A (p.Leu152=) rs1602230357
NM_004187.5(KDM5C):c.4629G>A (p.Leu1543=) rs1407999728
NM_004187.5(KDM5C):c.471C>T (p.Tyr157=)
NM_004187.5(KDM5C):c.522+7A>C rs374455833
NM_004187.5(KDM5C):c.585C>T (p.Ile195=)
NM_004187.5(KDM5C):c.589C>T (p.Leu197=)
NM_004187.5(KDM5C):c.657+11C>T
NM_004187.5(KDM5C):c.6G>A (p.Glu2=)
NM_004187.5(KDM5C):c.807C>A (p.Pro269=)
NM_004187.5(KDM5C):c.807C>G (p.Pro269=)
NM_004187.5(KDM5C):c.807C>T (p.Pro269=) rs1415151995
NM_004187.5(KDM5C):c.817G>T (p.Val273Leu)
NM_004187.5(KDM5C):c.96G>A (p.Ala32=)
NM_004733.4(SLC33A1):c.1042T>C (p.Leu348=)
NM_004733.4(SLC33A1):c.1063T>C (p.Leu355=)
NM_004733.4(SLC33A1):c.1089C>A (p.Ile363=) rs780161061
NM_004733.4(SLC33A1):c.1131C>T (p.Tyr377=)
NM_004733.4(SLC33A1):c.1161G>A (p.Gly387=) rs765123473
NM_004733.4(SLC33A1):c.1176A>T (p.Leu392=) rs1192897708
NM_004733.4(SLC33A1):c.1266+9G>C rs878854744
NM_004733.4(SLC33A1):c.1267-15T>C
NM_004733.4(SLC33A1):c.1278C>T (p.Tyr426=)
NM_004733.4(SLC33A1):c.1362C>T (p.Thr454=)
NM_004733.4(SLC33A1):c.1413A>G (p.Val471=) rs2109304787
NM_004733.4(SLC33A1):c.1425A>C (p.Thr475=) rs777226978
NM_004733.4(SLC33A1):c.1530T>C (p.Tyr510=) rs1752271816
NM_004733.4(SLC33A1):c.1560T>C (p.Ile520=)
NM_004733.4(SLC33A1):c.1587T>A (p.Gly529=)
NM_004733.4(SLC33A1):c.1596T>C (p.Phe532=) rs2109302264
NM_004733.4(SLC33A1):c.1599A>G (p.Lys533=)
NM_004733.4(SLC33A1):c.162G>A (p.Gly54=)
NM_004733.4(SLC33A1):c.231A>C (p.Leu77=)
NM_004733.4(SLC33A1):c.265C>T (p.Leu89=)
NM_004733.4(SLC33A1):c.27C>T (p.Asp9=)
NM_004733.4(SLC33A1):c.381G>A (p.Pro127=)
NM_004733.4(SLC33A1):c.477C>T (p.Ser159=)
NM_004733.4(SLC33A1):c.48A>G (p.Pro16=)
NM_004733.4(SLC33A1):c.576T>C (p.Thr192=)
NM_004733.4(SLC33A1):c.627T>C (p.Asn209=)
NM_004733.4(SLC33A1):c.636T>C (p.Tyr212=)
NM_004733.4(SLC33A1):c.711T>G (p.Ser237=)
NM_004733.4(SLC33A1):c.714C>T (p.Ala238=)
NM_004733.4(SLC33A1):c.729A>G (p.Lys243=)
NM_004733.4(SLC33A1):c.776-13A>C rs2107981378
NM_004733.4(SLC33A1):c.776-9C>T
NM_004733.4(SLC33A1):c.819A>G (p.Thr273=)
NM_004733.4(SLC33A1):c.87C>T (p.Pro29=) rs2108019199
NM_004733.4(SLC33A1):c.936A>G (p.Thr312=) rs1261159113
NM_004733.4(SLC33A1):c.964-1702_964-1701del
NM_004820.5(CYP7B1):c.1026C>T (p.Thr342=)
NM_004820.5(CYP7B1):c.1027A>C (p.Arg343=)
NM_004820.5(CYP7B1):c.1035A>G (p.Gln345=)
NM_004820.5(CYP7B1):c.1057+10_1057+15del
NM_004820.5(CYP7B1):c.1057+14A>G rs1554584165
NM_004820.5(CYP7B1):c.1057+15T>C
NM_004820.5(CYP7B1):c.1057+8A>C
NM_004820.5(CYP7B1):c.1058-15_1058-14insC rs1183782292
NM_004820.5(CYP7B1):c.1058-19G>A rs529157743
NM_004820.5(CYP7B1):c.1058-19G>C rs529157743
NM_004820.5(CYP7B1):c.1058-20C>T
NM_004820.5(CYP7B1):c.1058-6C>T
NM_004820.5(CYP7B1):c.1058-7C>T
NM_004820.5(CYP7B1):c.1058-8T>C
NM_004820.5(CYP7B1):c.1058-8del rs764062133
NM_004820.5(CYP7B1):c.1058-9T>C
NM_004820.5(CYP7B1):c.105G>A (p.Leu35=) rs1563432681
NM_004820.5(CYP7B1):c.1080A>G (p.Leu360=) rs2129629946
NM_004820.5(CYP7B1):c.108T>A (p.Leu36=)
NM_004820.5(CYP7B1):c.1104C>G (p.Thr368=)
NM_004820.5(CYP7B1):c.111C>G (p.Val37=)
NM_004820.5(CYP7B1):c.111C>T (p.Val37=)
NM_004820.5(CYP7B1):c.1134C>T (p.Leu378=)
NM_004820.5(CYP7B1):c.1140A>G (p.Ser380=) rs1805253004
NM_004820.5(CYP7B1):c.114G>T (p.Arg38=)
NM_004820.5(CYP7B1):c.117C>A (p.Arg39=)
NM_004820.5(CYP7B1):c.1188T>C (p.Phe396=)
NM_004820.5(CYP7B1):c.1191T>A (p.Pro397=)
NM_004820.5(CYP7B1):c.1191T>G (p.Pro397=)
NM_004820.5(CYP7B1):c.1197C>A (p.Val399=)
NM_004820.5(CYP7B1):c.1197C>T (p.Val399=)
NM_004820.5(CYP7B1):c.1209C>T (p.Asp403=)
NM_004820.5(CYP7B1):c.120C>T (p.Thr40=)
NM_004820.5(CYP7B1):c.122+10T>G
NM_004820.5(CYP7B1):c.122+11C>T rs188892701
NM_004820.5(CYP7B1):c.122+12G>T
NM_004820.5(CYP7B1):c.122+13G>C
NM_004820.5(CYP7B1):c.122+17C>T
NM_004820.5(CYP7B1):c.122+18C>T
NM_004820.5(CYP7B1):c.122+19A>G
NM_004820.5(CYP7B1):c.122+19_122+45del rs1487147780
NM_004820.5(CYP7B1):c.122+7G>T
NM_004820.5(CYP7B1):c.122+8C>A
NM_004820.5(CYP7B1):c.1224A>G (p.Glu408=)
NM_004820.5(CYP7B1):c.123-16T>A
NM_004820.5(CYP7B1):c.123-17T>C
NM_004820.5(CYP7B1):c.123-4G>A
NM_004820.5(CYP7B1):c.123-9T>C
NM_004820.5(CYP7B1):c.1233+10C>T
NM_004820.5(CYP7B1):c.1233+13C>T
NM_004820.5(CYP7B1):c.1233+16G>C
NM_004820.5(CYP7B1):c.1233+9A>T
NM_004820.5(CYP7B1):c.1234-10T>G
NM_004820.5(CYP7B1):c.1234-14A>G
NM_004820.5(CYP7B1):c.1234-6T>A
NM_004820.5(CYP7B1):c.1234-6T>G
NM_004820.5(CYP7B1):c.1234-8C>T rs944718272
NM_004820.5(CYP7B1):c.1260A>G (p.Glu420=)
NM_004820.5(CYP7B1):c.1263T>C (p.Asp421=)
NM_004820.5(CYP7B1):c.1291A>C (p.Arg431=)
NM_004820.5(CYP7B1):c.12A>G (p.Glu4=)
NM_004820.5(CYP7B1):c.1323G>T (p.Pro441=) rs201281307
NM_004820.5(CYP7B1):c.1326T>C (p.Phe442=)
NM_004820.5(CYP7B1):c.1332T>C (p.Thr444=)
NM_004820.5(CYP7B1):c.1344A>G (p.Lys448=)
NM_004820.5(CYP7B1):c.1365A>C (p.Ala455=)
NM_004820.5(CYP7B1):c.1389G>A (p.Leu463=)
NM_004820.5(CYP7B1):c.1407T>C (p.Tyr469=)
NM_004820.5(CYP7B1):c.1434G>A (p.Lys478=)
NM_004820.5(CYP7B1):c.1437C>T (p.Pro479=)
NM_004820.5(CYP7B1):c.1449C>T (p.Asn483=)
NM_004820.5(CYP7B1):c.1452C>T (p.Tyr484=)
NM_004820.5(CYP7B1):c.177C>G (p.Val59=) rs763202430
NM_004820.5(CYP7B1):c.177C>T (p.Val59=)
NM_004820.5(CYP7B1):c.183C>T (p.Asn61=)
NM_004820.5(CYP7B1):c.189A>G (p.Arg63=)
NM_004820.5(CYP7B1):c.192A>G (p.Lys64=)
NM_004820.5(CYP7B1):c.198C>T (p.Pro66=)
NM_004820.5(CYP7B1):c.228A>G (p.Gln76=)
NM_004820.5(CYP7B1):c.246A>G (p.Thr82=)
NM_004820.5(CYP7B1):c.24C>T (p.Ala8=)
NM_004820.5(CYP7B1):c.259+10A>T
NM_004820.5(CYP7B1):c.259+14C>T
NM_004820.5(CYP7B1):c.259+20A>G
NM_004820.5(CYP7B1):c.260-10T>G
NM_004820.5(CYP7B1):c.260-15_260-14insC
NM_004820.5(CYP7B1):c.260-16_260-13del rs775016278
NM_004820.5(CYP7B1):c.260-18C>G
NM_004820.5(CYP7B1):c.260-20C>G
NM_004820.5(CYP7B1):c.260-22CT[2] rs768562143
NM_004820.5(CYP7B1):c.260-22CT[3]
NM_004820.5(CYP7B1):c.260-5T>C
NM_004820.5(CYP7B1):c.261A>C (p.Gly87=)
NM_004820.5(CYP7B1):c.264G>A (p.Lys88=)
NM_004820.5(CYP7B1):c.273A>G (p.Thr91=)
NM_004820.5(CYP7B1):c.280C>T (p.Leu94=)
NM_004820.5(CYP7B1):c.294G>A (p.Gln98=)
NM_004820.5(CYP7B1):c.297C>T (p.Tyr99=)
NM_004820.5(CYP7B1):c.301C>T (p.Leu101=)
NM_004820.5(CYP7B1):c.330C>T (p.Ser110=)
NM_004820.5(CYP7B1):c.33C>T (p.Arg11=)
NM_004820.5(CYP7B1):c.348T>C (p.Asn116=)
NM_004820.5(CYP7B1):c.381G>A (p.Gln127=)
NM_004820.5(CYP7B1):c.39G>A (p.Ser13=)
NM_004820.5(CYP7B1):c.405T>C (p.Asn135=)
NM_004820.5(CYP7B1):c.429A>G (p.Gln143=)
NM_004820.5(CYP7B1):c.456A>C (p.Ile152=)
NM_004820.5(CYP7B1):c.462G>A (p.Leu154=)
NM_004820.5(CYP7B1):c.46C>A (p.Arg16=)
NM_004820.5(CYP7B1):c.486A>G (p.Lys162=)
NM_004820.5(CYP7B1):c.48G>C (p.Arg16=)
NM_004820.5(CYP7B1):c.507G>A (p.Leu169=)
NM_004820.5(CYP7B1):c.531G>A (p.Thr177=)
NM_004820.5(CYP7B1):c.540G>C (p.Leu180=) rs2129630211
NM_004820.5(CYP7B1):c.555C>T (p.Ser185=)
NM_004820.5(CYP7B1):c.573C>A (p.Ile191=) rs1245820259
NM_004820.5(CYP7B1):c.573C>T (p.Ile191=)
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004820.5(CYP7B1):c.60G>A (p.Pro20=)
NM_004820.5(CYP7B1):c.618C>T (p.Asn206=) rs2129630208
NM_004820.5(CYP7B1):c.642T>C (p.Asp214=)
NM_004820.5(CYP7B1):c.675T>C (p.Tyr225=)
NM_004820.5(CYP7B1):c.681A>G (p.Val227=)
NM_004820.5(CYP7B1):c.684C>A (p.Ser228=)
NM_004820.5(CYP7B1):c.69C>G (p.Ala23=)
NM_004820.5(CYP7B1):c.705A>G (p.Leu235=)
NM_004820.5(CYP7B1):c.711T>C (p.Asn237=)
NM_004820.5(CYP7B1):c.720T>C (p.Ser240=)
NM_004820.5(CYP7B1):c.72C>A (p.Leu24=)
NM_004820.5(CYP7B1):c.744C>T (p.Cys248=)
NM_004820.5(CYP7B1):c.762A>G (p.Leu254=)
NM_004820.5(CYP7B1):c.78G>A (p.Ala26=)
NM_004820.5(CYP7B1):c.78G>C (p.Ala26=)
NM_004820.5(CYP7B1):c.78G>T (p.Ala26=) rs953886480
NM_004820.5(CYP7B1):c.825T>C (p.Tyr275=)
NM_004820.5(CYP7B1):c.831C>T (p.His277=)
NM_004820.5(CYP7B1):c.850+13G>A rs2129630187
NM_004820.5(CYP7B1):c.850+16T>G
NM_004820.5(CYP7B1):c.850+17G>C
NM_004820.5(CYP7B1):c.850+17G>T
NM_004820.5(CYP7B1):c.850+7A>C
NM_004820.5(CYP7B1):c.851-13T>C
NM_004820.5(CYP7B1):c.851-15C>A
NM_004820.5(CYP7B1):c.851-6T>G
NM_004820.5(CYP7B1):c.851-7C>T
NM_004820.5(CYP7B1):c.858T>C (p.His286=)
NM_004820.5(CYP7B1):c.870C>G (p.Leu290=)
NM_004820.5(CYP7B1):c.87G>A (p.Leu29=)
NM_004820.5(CYP7B1):c.891T>A (p.Thr297=) rs1285033250
NM_004820.5(CYP7B1):c.891T>C (p.Thr297=)
NM_004820.5(CYP7B1):c.91C>T (p.Leu31=) rs1804746809
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=) rs754533279
NM_004820.5(CYP7B1):c.933C>T (p.His311=)
NM_004820.5(CYP7B1):c.942T>C (p.Ala314=)
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) rs886063073
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447
NM_004820.5(CYP7B1):c.96C>G (p.Ala32=)
NM_004820.5(CYP7B1):c.970C>T (p.Arg324Cys) rs773055558
NM_004820.5(CYP7B1):c.978G>A (p.Leu326=)
NM_004820.5(CYP7B1):c.987A>C (p.Thr329=)
NM_004820.5(CYP7B1):c.9A>G (p.Gly3=)
NM_004820.5(CYP7B1):c.9A>T (p.Gly3=)
NM_004984.4(KIF5A):c.1029G>A (p.Lys343=)
NM_004984.4(KIF5A):c.1047G>A (p.Glu349=)
NM_004984.4(KIF5A):c.1080T>C (p.Ile360=)
NM_004984.4(KIF5A):c.1117+7G>A
NM_004984.4(KIF5A):c.1117+9G>A
NM_004984.4(KIF5A):c.1118-12G>T rs2140163551
NM_004984.4(KIF5A):c.1118-15C>T
NM_004984.4(KIF5A):c.1118-17G>A
NM_004984.4(KIF5A):c.1118-18C>G
NM_004984.4(KIF5A):c.1118-18C>T
NM_004984.4(KIF5A):c.1128G>A (p.Val376=) rs2140163565
NM_004984.4(KIF5A):c.1134G>A (p.Glu378=) rs1306333808
NM_004984.4(KIF5A):c.1144C>T (p.Leu382=)
NM_004984.4(KIF5A):c.1158G>A (p.Glu386=) rs2140163611
NM_004984.4(KIF5A):c.1165C>T (p.Leu389=)
NM_004984.4(KIF5A):c.1176G>C (p.Glu392Asp) rs75907338
NM_004984.4(KIF5A):c.118G>A (p.Val40Ile) rs1565690660
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1194T>C (p.Pro398=)
NM_004984.4(KIF5A):c.1194T>G (p.Pro398=)
NM_004984.4(KIF5A):c.1206C>T (p.Asn402=)
NM_004984.4(KIF5A):c.120C>A (p.Val40=)
NM_004984.4(KIF5A):c.1215C>T (p.Ile405=) rs267603611
NM_004984.4(KIF5A):c.1229C>T (p.Ala410Val)
NM_004984.4(KIF5A):c.1230G>T (p.Ala410=)
NM_004984.4(KIF5A):c.1233C>A (p.Pro411=)
NM_004984.4(KIF5A):c.1233C>G (p.Pro411=) rs757235645
NM_004984.4(KIF5A):c.1242G>A (p.Arg414=)
NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)
NM_004984.4(KIF5A):c.1265G>A (p.Arg422His)
NM_004984.4(KIF5A):c.1267C>T (p.Arg423Cys)
NM_004984.4(KIF5A):c.1284T>C (p.Leu428=)
NM_004984.4(KIF5A):c.129+10G>T rs1881532622
NM_004984.4(KIF5A):c.129+11C>G
NM_004984.4(KIF5A):c.129+18G>A
NM_004984.4(KIF5A):c.1290C>G (p.Asp430Glu)
NM_004984.4(KIF5A):c.1293+12C>T
NM_004984.4(KIF5A):c.1293+7G>A
NM_004984.4(KIF5A):c.1293+8C>A rs776493530
NM_004984.4(KIF5A):c.1294-10C>T
NM_004984.4(KIF5A):c.130-14T>C rs2140158725
NM_004984.4(KIF5A):c.130-16T>C
NM_004984.4(KIF5A):c.1308C>T (p.Asn436=) rs2140164720
NM_004984.4(KIF5A):c.1317C>T (p.Ser439=)
NM_004984.4(KIF5A):c.1362+10G>C
NM_004984.4(KIF5A):c.1362+17C>A rs372790531
NM_004984.4(KIF5A):c.1362+17C>G
NM_004984.4(KIF5A):c.1362+17C>T
NM_004984.4(KIF5A):c.1362+7G>A rs1349376862
NM_004984.4(KIF5A):c.1362+8G>A
NM_004984.4(KIF5A):c.1363-11C>T
NM_004984.4(KIF5A):c.1363-13C>A
NM_004984.4(KIF5A):c.1363-13C>T
NM_004984.4(KIF5A):c.1363-4G>C rs2140165168
NM_004984.4(KIF5A):c.1363-5T>C rs747818828
NM_004984.4(KIF5A):c.1371G>A (p.Val457=) rs1173503363
NM_004984.4(KIF5A):c.1379G>A (p.Arg460Gln)
NM_004984.4(KIF5A):c.1395G>A (p.Lys465=)
NM_004984.4(KIF5A):c.1402C>A (p.Arg468=) rs771021589
NM_004984.4(KIF5A):c.1402C>T (p.Arg468Trp)
NM_004984.4(KIF5A):c.1410G>A (p.Leu470=)
NM_004984.4(KIF5A):c.1419G>T (p.Leu473=)
NM_004984.4(KIF5A):c.1422A>G (p.Gln474=) rs1373971092
NM_004984.4(KIF5A):c.1428G>A (p.Glu476=)
NM_004984.4(KIF5A):c.1437C>G (p.Ala479=)
NM_004984.4(KIF5A):c.1470C>T (p.Ala490=)
NM_004984.4(KIF5A):c.1482G>A (p.Leu494=)
NM_004984.4(KIF5A):c.1500G>A (p.Gln500=)
NM_004984.4(KIF5A):c.1521G>A (p.Glu507=) rs1882277764
NM_004984.4(KIF5A):c.1557G>A (p.Leu519=)
NM_004984.4(KIF5A):c.1569+8G>A rs2140165313
NM_004984.4(KIF5A):c.1570-18C>T
NM_004984.4(KIF5A):c.1570-6C>T
NM_004984.4(KIF5A):c.1590G>A (p.Glu530=)
NM_004984.4(KIF5A):c.1600C>A (p.Gln534Lys)
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325
NM_004984.4(KIF5A):c.162C>T (p.Pro54=)
NM_004984.4(KIF5A):c.1653G>T (p.Leu551=)
NM_004984.4(KIF5A):c.1660C>T (p.Leu554=)
NM_004984.4(KIF5A):c.1662G>A (p.Leu554=) rs2140165629
NM_004984.4(KIF5A):c.1674G>A (p.Leu558=) rs2140165640
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=) rs2140165659
NM_004984.4(KIF5A):c.1716+11A>G
NM_004984.4(KIF5A):c.1717-12T>C
NM_004984.4(KIF5A):c.1717-13T>C rs2140167357
NM_004984.4(KIF5A):c.1717-16_1717-14del
NM_004984.4(KIF5A):c.1717-19C>T
NM_004984.4(KIF5A):c.1717-6C>T rs61935711
NM_004984.4(KIF5A):c.171G>A (p.Thr57=)
NM_004984.4(KIF5A):c.1728C>T (p.Ile576=)
NM_004984.4(KIF5A):c.1743G>A (p.Glu581=)
NM_004984.4(KIF5A):c.1752C>T (p.Phe584=)
NM_004984.4(KIF5A):c.1770C>T (p.Tyr590=)
NM_004984.4(KIF5A):c.1776C>T (p.Ser592=) rs2140167424
NM_004984.4(KIF5A):c.1797G>A (p.Lys599=)
NM_004984.4(KIF5A):c.1803G>A (p.Val601=)
NM_004984.4(KIF5A):c.1806C>T (p.Val602=)
NM_004984.4(KIF5A):c.1896C>A (p.Leu632=)
NM_004984.4(KIF5A):c.1900T>A (p.Ser634Thr) rs1343792922
NM_004984.4(KIF5A):c.1905+17G>A rs2140167547
NM_004984.4(KIF5A):c.1905+9C>G rs2140167541
NM_004984.4(KIF5A):c.1906-10C>G rs561056213
NM_004984.4(KIF5A):c.1906-12T>C
NM_004984.4(KIF5A):c.1906-18C>T rs764872296
NM_004984.4(KIF5A):c.1911G>A (p.Glu637=)
NM_004984.4(KIF5A):c.1922G>A (p.Arg641His)
NM_004984.4(KIF5A):c.1926G>C (p.Ser642=) rs377649745
NM_004984.4(KIF5A):c.1929T>A (p.Leu643=) rs1330835160
NM_004984.4(KIF5A):c.1929T>C (p.Leu643=)
NM_004984.4(KIF5A):c.1931C>T (p.Thr644Met)
NM_004984.4(KIF5A):c.1938C>T (p.Tyr646=)
NM_004984.4(KIF5A):c.1946G>A (p.Ser649Asn)
NM_004984.4(KIF5A):c.1948G>T (p.Val650Leu)
NM_004984.4(KIF5A):c.1953G>C (p.Glu651Asp)
NM_004984.4(KIF5A):c.1956A>G (p.Leu652=)
NM_004984.4(KIF5A):c.1959G>A (p.Lys653=)
NM_004984.4(KIF5A):c.1998T>C (p.Asp666=) rs1594922304
NM_004984.4(KIF5A):c.2002C>G (p.Leu668Val)
NM_004984.4(KIF5A):c.2023+12T>C
NM_004984.4(KIF5A):c.2023+16A>G
NM_004984.4(KIF5A):c.2024-13C>T rs1265099591
NM_004984.4(KIF5A):c.2024-5C>T
NM_004984.4(KIF5A):c.2024-6C>T
NM_004984.4(KIF5A):c.2053A>G (p.Lys685Glu)
NM_004984.4(KIF5A):c.2055G>A (p.Lys685=) rs2140168069
NM_004984.4(KIF5A):c.2065A>G (p.Thr689Ala)
NM_004984.4(KIF5A):c.2079T>C (p.Asp693=) rs756599532
NM_004984.4(KIF5A):c.2088+15T>C
NM_004984.4(KIF5A):c.2088+17T>A
NM_004984.4(KIF5A):c.2089-11G>T rs755221355
NM_004984.4(KIF5A):c.2089-13G>C rs2140168188
NM_004984.4(KIF5A):c.2089-14G>A rs2140168183
NM_004984.4(KIF5A):c.2089-14_2089-10del rs1282416657
NM_004984.4(KIF5A):c.2089-16G>A
NM_004984.4(KIF5A):c.2089-18G>A
NM_004984.4(KIF5A):c.2089-4G>C
NM_004984.4(KIF5A):c.2097G>A (p.Leu699=)
NM_004984.4(KIF5A):c.2103G>A (p.Leu701=)
NM_004984.4(KIF5A):c.2118C>T (p.His706=)
NM_004984.4(KIF5A):c.2133C>T (p.His711=)
NM_004984.4(KIF5A):c.2146C>A (p.Arg716=) rs377539747
NM_004984.4(KIF5A):c.2166C>T (p.Asn722=)
NM_004984.4(KIF5A):c.2167G>A (p.Glu723Lys)
NM_004984.4(KIF5A):c.217+11dup
NM_004984.4(KIF5A):c.2178G>A (p.Lys726=)
NM_004984.4(KIF5A):c.218-11G>A
NM_004984.4(KIF5A):c.218-11G>C
NM_004984.4(KIF5A):c.218-12T>C
NM_004984.4(KIF5A):c.218-14A>G
NM_004984.4(KIF5A):c.218-16C>T rs900924640
NM_004984.4(KIF5A):c.218-17T>C rs2140158825
NM_004984.4(KIF5A):c.218-19T>C rs2140158822
NM_004984.4(KIF5A):c.218-20T>G
NM_004984.4(KIF5A):c.218-7C>G rs1377018724
NM_004984.4(KIF5A):c.218-9C>T rs936245243
NM_004984.4(KIF5A):c.2181C>T (p.Thr727=) rs754410882
NM_004984.4(KIF5A):c.2189A>G (p.Glu730Gly) rs751019108
NM_004984.4(KIF5A):c.2193C>G (p.Leu731=) rs1565702439
NM_004984.4(KIF5A):c.2194A>G (p.Lys732Glu)
NM_004984.4(KIF5A):c.2198+16G>A
NM_004984.4(KIF5A):c.2198+18C>T
NM_004984.4(KIF5A):c.2199-15del
NM_004984.4(KIF5A):c.2199-8C>T
NM_004984.4(KIF5A):c.2199-9G>C
NM_004984.4(KIF5A):c.2211G>A (p.Lys737=) rs2140168629
NM_004984.4(KIF5A):c.2214C>G (p.Leu738=)
NM_004984.4(KIF5A):c.2217G>A (p.Gln739=) rs755813386
NM_004984.4(KIF5A):c.222C>G (p.Val74=)
NM_004984.4(KIF5A):c.2300+22_2300+36del rs2140168722
NM_004984.4(KIF5A):c.2301-10C>T
NM_004984.4(KIF5A):c.2301-20C>T rs2140169231
NM_004984.4(KIF5A):c.2304T>C (p.Phe768=) rs773966928
NM_004984.4(KIF5A):c.2307G>A (p.Leu769=) rs1365812959
NM_004984.4(KIF5A):c.2311G>A (p.Glu771Lys)
NM_004984.4(KIF5A):c.2318A>G (p.His773Arg)
NM_004984.4(KIF5A):c.2330A>G (p.Lys777Arg)
NM_004984.4(KIF5A):c.2361+14T>C rs2140169321
NM_004984.4(KIF5A):c.2361+16C>A rs1031343176
NM_004984.4(KIF5A):c.2362-10T>C
NM_004984.4(KIF5A):c.2362-12C>A
NM_004984.4(KIF5A):c.2362-19T>C
NM_004984.4(KIF5A):c.2362-6T>C
NM_004984.4(KIF5A):c.2366G>A (p.Arg789Gln)
NM_004984.4(KIF5A):c.2400G>C (p.Leu800=)
NM_004984.4(KIF5A):c.2417C>T (p.Thr806Met)
NM_004984.4(KIF5A):c.2418G>C (p.Thr806=)
NM_004984.4(KIF5A):c.2422C>A (p.Arg808=)
NM_004984.4(KIF5A):c.2423G>A (p.Arg808Gln)
NM_004984.4(KIF5A):c.2427C>T (p.Val809=)
NM_004984.4(KIF5A):c.2433+14T>G
NM_004984.4(KIF5A):c.2433+18G>A rs1594924065
NM_004984.4(KIF5A):c.2433+8C>T
NM_004984.4(KIF5A):c.2434-12A>G
NM_004984.4(KIF5A):c.2434-14C>G
NM_004984.4(KIF5A):c.2434-15del rs759514259
NM_004984.4(KIF5A):c.243C>A (p.Thr81=)
NM_004984.4(KIF5A):c.243C>T (p.Thr81=)
NM_004984.4(KIF5A):c.2448G>A (p.Glu816=)
NM_004984.4(KIF5A):c.2466G>C (p.Gly822=) rs759472256
NM_004984.4(KIF5A):c.2475C>T (p.Ser825=)
NM_004984.4(KIF5A):c.2538+13T>C
NM_004984.4(KIF5A):c.2538+18G>A rs747524040
NM_004984.4(KIF5A):c.2538+9C>T
NM_004984.4(KIF5A):c.2539-13G>T rs1057523621
NM_004984.4(KIF5A):c.2539-15T>C
NM_004984.4(KIF5A):c.2539-15del
NM_004984.4(KIF5A):c.2539-18C>T rs2140171386
NM_004984.4(KIF5A):c.2539-6C>T
NM_004984.4(KIF5A):c.2539-8C>G rs2140171397
NM_004984.4(KIF5A):c.2539-9G>C
NM_004984.4(KIF5A):c.2550C>T (p.Asp850=)
NM_004984.4(KIF5A):c.255T>C (p.Tyr85=) rs1881978589
NM_004984.4(KIF5A):c.2589A>G (p.Lys863=)
NM_004984.4(KIF5A):c.2604G>A (p.Thr868=)
NM_004984.4(KIF5A):c.2631T>C (p.Gly877=)
NM_004984.4(KIF5A):c.2675G>A (p.Arg892Gln)
NM_004984.4(KIF5A):c.2685G>A (p.Gln895=)
NM_004984.4(KIF5A):c.2700C>T (p.Ile900=)
NM_004984.4(KIF5A):c.2709C>T (p.Ala903=)
NM_004984.4(KIF5A):c.270A>T (p.Ser90=) rs2140158864
NM_004984.4(KIF5A):c.2720A>T (p.Lys907Met)
NM_004984.4(KIF5A):c.2739C>G (p.Gly913=) rs1435453925
NM_004984.4(KIF5A):c.2755+16C>T
NM_004984.4(KIF5A):c.2755+8G>A
NM_004984.4(KIF5A):c.2755+9G>A
NM_004984.4(KIF5A):c.2756-4G>A
NM_004984.4(KIF5A):c.2756-5T>G
NM_004984.4(KIF5A):c.2756-8T>C
NM_004984.4(KIF5A):c.2768G>A (p.Arg923Gln)
NM_004984.4(KIF5A):c.2783C>A (p.Pro928Gln)
NM_004984.4(KIF5A):c.2784A>G (p.Pro928=) rs1467156414
NM_004984.4(KIF5A):c.2790C>G (p.Ser930=)
NM_004984.4(KIF5A):c.2802C>T (p.Asn934=) rs1381639610
NM_004984.4(KIF5A):c.2808T>C (p.Tyr936=)
NM_004984.4(KIF5A):c.2815C>T (p.Arg939Trp) rs779422769
NM_004984.4(KIF5A):c.2816G>A (p.Arg939Gln)
NM_004984.4(KIF5A):c.2817G>A (p.Arg939=)
NM_004984.4(KIF5A):c.285C>T (p.Thr95=)
NM_004984.4(KIF5A):c.2889C>G (p.Pro963=)
NM_004984.4(KIF5A):c.2894C>T (p.Ser965Phe)
NM_004984.4(KIF5A):c.2909+10C>T
NM_004984.4(KIF5A):c.2909+11A>G
NM_004984.4(KIF5A):c.2909+12C>T
NM_004984.4(KIF5A):c.2909+18T>C
NM_004984.4(KIF5A):c.291+18G>T
NM_004984.4(KIF5A):c.2910-10C>T
NM_004984.4(KIF5A):c.2910-13C>G
NM_004984.4(KIF5A):c.2910-17T>C
NM_004984.4(KIF5A):c.2916A>C (p.Ala972=)
NM_004984.4(KIF5A):c.2919C>G (p.Asn973Lys)
NM_004984.4(KIF5A):c.292-14C>T
NM_004984.4(KIF5A):c.292-5G>T rs201917057
NM_004984.4(KIF5A):c.2930G>C (p.Ser977Thr) rs1159045681
NM_004984.4(KIF5A):c.2933G>C (p.Ser978Thr)
NM_004984.4(KIF5A):c.2942C>A (p.Thr981Lys)
NM_004984.4(KIF5A):c.2952C>A (p.Gly984=)
NM_004984.4(KIF5A):c.2952C>T (p.Gly984=)
NM_004984.4(KIF5A):c.2958C>T (p.Pro986=) rs1236499166
NM_004984.4(KIF5A):c.2992+18G>C rs745773241
NM_004984.4(KIF5A):c.2992+20A>T
NM_004984.4(KIF5A):c.2992+8A>G
NM_004984.4(KIF5A):c.2993-12T>G rs542701424
NM_004984.4(KIF5A):c.2993-13A>C rs2140172663
NM_004984.4(KIF5A):c.2993-15T>C
NM_004984.4(KIF5A):c.2993-17_2993-15del
NM_004984.4(KIF5A):c.2993-20C>G
NM_004984.4(KIF5A):c.2993-20C>T rs375827219
NM_004984.4(KIF5A):c.3000C>G (p.Ala1000=)
NM_004984.4(KIF5A):c.3020+11C>A
NM_004984.4(KIF5A):c.3020+19C>T rs780107972
NM_004984.4(KIF5A):c.3021-18G>A rs768178863
NM_004984.4(KIF5A):c.3021-6C>T
NM_004984.4(KIF5A):c.3030G>A (p.Leu1010=) rs1231817690
NM_004984.4(KIF5A):c.3033G>T (p.Pro1011=)
NM_004984.4(KIF5A):c.3039C>G (p.Gly1013=)
NM_004984.4(KIF5A):c.303C>T (p.His101=) rs769191561
NM_004984.4(KIF5A):c.3062A>C (p.Lys1021Thr) rs1186511989
NM_004984.4(KIF5A):c.3067T>C (p.Phe1023Leu)
NM_004984.4(KIF5A):c.3081A>G (p.Gln1027=)
NM_004984.4(KIF5A):c.3096C>T (p.Ser1032=) rs2140173077
NM_004984.4(KIF5A):c.30C>A (p.Ile10=)
NM_004984.4(KIF5A):c.327T>A (p.Ile109=) rs777103564
NM_004984.4(KIF5A):c.396+16C>T
NM_004984.4(KIF5A):c.396+18G>T
NM_004984.4(KIF5A):c.405C>T (p.Tyr135=)
NM_004984.4(KIF5A):c.42C>T (p.Cys14=)
NM_004984.4(KIF5A):c.445+14C>T
NM_004984.4(KIF5A):c.445+16del rs1410804703
NM_004984.4(KIF5A):c.445+18G>A
NM_004984.4(KIF5A):c.446-16del
NM_004984.4(KIF5A):c.446-19C>T
NM_004984.4(KIF5A):c.450C>A (p.Thr150=) rs369182603
NM_004984.4(KIF5A):c.453G>A (p.Lys151=)
NM_004984.4(KIF5A):c.462G>C (p.Leu154=) rs1882017601
NM_004984.4(KIF5A):c.465C>G (p.Ser155=)
NM_004984.4(KIF5A):c.492A>G (p.Pro164=) rs2140159692
NM_004984.4(KIF5A):c.501+11G>A
NM_004984.4(KIF5A):c.501+18G>A rs2140159719
NM_004984.4(KIF5A):c.501+20A>G rs2140159724
NM_004984.4(KIF5A):c.501+20_501+32del
NM_004984.4(KIF5A):c.502-17C>A
NM_004984.4(KIF5A):c.502-19_502-18del rs770023686
NM_004984.4(KIF5A):c.504T>C (p.Gly168=)
NM_004984.4(KIF5A):c.51G>T (p.Arg17=)
NM_004984.4(KIF5A):c.555T>C (p.Asp185=)
NM_004984.4(KIF5A):c.589+14C>A
NM_004984.4(KIF5A):c.589+20G>A
NM_004984.4(KIF5A):c.589+7G>A rs921831469
NM_004984.4(KIF5A):c.590-10G>C
NM_004984.4(KIF5A):c.590-17C>T
NM_004984.4(KIF5A):c.591C>T (p.Asn197=)
NM_004984.4(KIF5A):c.621C>T (p.Ser207=)
NM_004984.4(KIF5A):c.630C>T (p.Leu210=)
NM_004984.4(KIF5A):c.684G>A (p.Leu228=)
NM_004984.4(KIF5A):c.6G>C (p.Ala2=)
NM_004984.4(KIF5A):c.714+11C>T rs759607800
NM_004984.4(KIF5A):c.714+15G>A
NM_004984.4(KIF5A):c.714+7G>A
NM_004984.4(KIF5A):c.714+9T>C rs878854750
NM_004984.4(KIF5A):c.715-11T>G rs2140162529
NM_004984.4(KIF5A):c.735G>A (p.Glu245=)
NM_004984.4(KIF5A):c.741C>T (p.Ala247=)
NM_004984.4(KIF5A):c.744G>C (p.Val248=)
NM_004984.4(KIF5A):c.762T>C (p.Asn254=)
NM_004984.4(KIF5A):c.775C>T (p.Leu259=)
NM_004984.4(KIF5A):c.795G>A (p.Val265=) rs2140162612
NM_004984.4(KIF5A):c.819+15G>A
NM_004984.4(KIF5A):c.819+16G>T
NM_004984.4(KIF5A):c.819+7G>T
NM_004984.4(KIF5A):c.820-13C>T
NM_004984.4(KIF5A):c.820-14C>A rs944672661
NM_004984.4(KIF5A):c.820-5C>A
NM_004984.4(KIF5A):c.825C>T (p.Ser275=)
NM_004984.4(KIF5A):c.882A>G (p.Gly294=) rs2140162926
NM_004984.4(KIF5A):c.888C>T (p.Cys296=) rs773373166
NM_004984.4(KIF5A):c.906C>T (p.Ile302=)
NM_004984.4(KIF5A):c.936A>C (p.Ala312=) rs1882172406
NM_004984.4(KIF5A):c.968+16C>T rs1188551649
NM_004984.4(KIF5A):c.969-15C>T
NM_004984.4(KIF5A):c.969-17C>G
NM_004984.4(KIF5A):c.969-5C>T
NM_004984.4(KIF5A):c.969-9C>T
NM_004984.4(KIF5A):c.969-9_969-7del
NM_004984.4(KIF5A):c.969-9del
NM_004984.4(KIF5A):c.990T>C (p.Thr330=)
NM_004984.4(KIF5A):c.996A>C (p.Ser332=)
NM_005619.5(RTN2):c.1034-13C>G
NM_005619.5(RTN2):c.108G>A (p.Glu36=)
NM_005619.5(RTN2):c.1122T>C (p.Phe374=)
NM_005619.5(RTN2):c.1125C>T (p.Ser375=)
NM_005619.5(RTN2):c.1134C>T (p.Ser378=)
NM_005619.5(RTN2):c.1167C>T (p.Cys389=)
NM_005619.5(RTN2):c.1217G>C (p.Arg406Pro) rs369158895
NM_005619.5(RTN2):c.1230C>T (p.Ala410=)
NM_005619.5(RTN2):c.1242-4G>T rs761145953
NM_005619.5(RTN2):c.1242G>A (p.Gln414=)
NM_005619.5(RTN2):c.1251G>A (p.Leu417=)
NM_005619.5(RTN2):c.1273C>T (p.Arg425Trp)
NM_005619.5(RTN2):c.1284G>A (p.Thr428=)
NM_005619.5(RTN2):c.1323G>A (p.Ser441=)
NM_005619.5(RTN2):c.1341G>C (p.Arg447=)
NM_005619.5(RTN2):c.135G>A (p.Glu45=)
NM_005619.5(RTN2):c.1381-5C>T
NM_005619.5(RTN2):c.1451-20C>T
NM_005619.5(RTN2):c.1462C>T (p.Leu488=) rs1968076779
NM_005619.5(RTN2):c.1493A>G (p.His498Arg)
NM_005619.5(RTN2):c.1506C>T (p.Ile502=)
NM_005619.5(RTN2):c.1572C>T (p.Ile524=) rs1599903496
NM_005619.5(RTN2):c.1605C>T (p.Ala535=) rs2122199510
NM_005619.5(RTN2):c.277G>A (p.Val93Ile)
NM_005619.5(RTN2):c.35-4G>A
NM_005619.5(RTN2):c.388G>A (p.Ala130Thr) rs143394159
NM_005619.5(RTN2):c.555G>A (p.Gly185=)
NM_005619.5(RTN2):c.560-17T>A
NM_005619.5(RTN2):c.564G>A (p.Leu188=)
NM_005619.5(RTN2):c.597G>A (p.Ser199=) rs764702354
NM_005619.5(RTN2):c.600C>G (p.Pro200=)
NM_005619.5(RTN2):c.609G>A (p.Leu203=)
NM_005619.5(RTN2):c.668G>T (p.Arg223Leu) rs1284501805
NM_005619.5(RTN2):c.6G>A (p.Gly2=)
NM_005619.5(RTN2):c.814+9C>T
NM_005619.5(RTN2):c.815-20A>G
NM_005619.5(RTN2):c.840A>C (p.Thr280=)
NM_005619.5(RTN2):c.84G>A (p.Gly28=)
NM_005619.5(RTN2):c.954G>A (p.Arg318=)
NM_005619.5(RTN2):c.987C>T (p.Ser329=)
NM_006517.5(SLC16A2):c.1027-14G>A rs2147870973
NM_006517.5(SLC16A2):c.1047G>A (p.Glu349=)
NM_006517.5(SLC16A2):c.1062G>A (p.Lys354=) rs2147870983
NM_006517.5(SLC16A2):c.1068C>T (p.Thr356=)
NM_006517.5(SLC16A2):c.111T>C (p.Pro37=)
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006517.5(SLC16A2):c.1170+11C>T rs2147871025
NM_006517.5(SLC16A2):c.1173C>A (p.Val391=)
NM_006517.5(SLC16A2):c.118G>A (p.Glu40Lys)
NM_006517.5(SLC16A2):c.1245C>T (p.Val415=)
NM_006517.5(SLC16A2):c.124G>A (p.Glu42Lys)
NM_006517.5(SLC16A2):c.129C>A (p.Pro43=)
NM_006517.5(SLC16A2):c.1347C>T (p.Gly449=)
NM_006517.5(SLC16A2):c.1399+19G>A
NM_006517.5(SLC16A2):c.1399+6_1399+7delinsTT
NM_006517.5(SLC16A2):c.1409G>A (p.Arg470His)
NM_006517.5(SLC16A2):c.1524G>A (p.Glu508=)
NM_006517.5(SLC16A2):c.1533T>C (p.Asp511=)
NM_006517.5(SLC16A2):c.171C>G (p.Pro57=) rs2147833962
NM_006517.5(SLC16A2):c.237C>T (p.Pro79=)
NM_006517.5(SLC16A2):c.258C>A (p.Arg86=)
NM_006517.5(SLC16A2):c.258C>T (p.Arg86=)
NM_006517.5(SLC16A2):c.264C>T (p.Thr88=)
NM_006517.5(SLC16A2):c.265G>C (p.Ala89Pro) rs201661705
NM_006517.5(SLC16A2):c.306G>A (p.Val102=)
NM_006517.5(SLC16A2):c.430+11C>T
NM_006517.5(SLC16A2):c.430+17G>T
NM_006517.5(SLC16A2):c.438C>G (p.Val146=)
NM_006517.5(SLC16A2):c.438C>T (p.Val146=)
NM_006517.5(SLC16A2):c.474T>G (p.Ser158=) rs1234288700
NM_006517.5(SLC16A2):c.528G>T (p.Ala176=)
NM_006517.5(SLC16A2):c.575+17G>A
NM_006517.5(SLC16A2):c.576-12T>C
NM_006517.5(SLC16A2):c.576-16G>T
NM_006517.5(SLC16A2):c.580C>T (p.Leu194=)
NM_006517.5(SLC16A2):c.688C>T (p.Leu230=)
NM_006517.5(SLC16A2):c.738C>T (p.Phe246=)
NM_006517.5(SLC16A2):c.750C>T (p.Ile250=)
NM_006517.5(SLC16A2):c.753A>G (p.Arg251=)
NM_006517.5(SLC16A2):c.757C>T (p.Leu253=)
NM_006517.5(SLC16A2):c.79G>C (p.Gly27Arg)
NM_006517.5(SLC16A2):c.921C>T (p.Leu307=)
NM_007175.8(ERLIN2):c.1002G>A (p.Thr334=)
NM_007175.8(ERLIN2):c.107+14_107+15del
NM_007175.8(ERLIN2):c.108-15C>T
NM_007175.8(ERLIN2):c.177T>C (p.Tyr59=)
NM_007175.8(ERLIN2):c.190-19A>G
NM_007175.8(ERLIN2):c.21T>G (p.Val7=)
NM_007175.8(ERLIN2):c.299-4_299-3del rs778852699
NM_007175.8(ERLIN2):c.408C>G (p.Val136=) rs1554516566
NM_007175.8(ERLIN2):c.424+9G>C
NM_007175.8(ERLIN2):c.483T>C (p.Pro161=)
NM_007175.8(ERLIN2):c.549C>T (p.Tyr183=)
NM_007175.8(ERLIN2):c.553T>C (p.Leu185=)
NM_007175.8(ERLIN2):c.557+12C>T
NM_007175.8(ERLIN2):c.557+14C>G
NM_007175.8(ERLIN2):c.557+17C>A
NM_007175.8(ERLIN2):c.573A>T (p.Thr191=)
NM_007175.8(ERLIN2):c.597A>G (p.Lys199=)
NM_007175.8(ERLIN2):c.739+13G>A
NM_007175.8(ERLIN2):c.777T>C (p.Asp259=) rs764440061
NM_007175.8(ERLIN2):c.819+11C>T
NM_007175.8(ERLIN2):c.819+13C>T
NM_007175.8(ERLIN2):c.820-6T>A
NM_007175.8(ERLIN2):c.849G>C (p.Leu283=)
NM_007175.8(ERLIN2):c.873C>G (p.Ser291=)
NM_007175.8(ERLIN2):c.927G>A (p.Ala309=)
NM_007347.5(AP4E1):c.1066+11T>G
NM_007347.5(AP4E1):c.1108C>T (p.Leu370=)
NM_007347.5(AP4E1):c.1176+9G>A
NM_007347.5(AP4E1):c.1177-13C>T
NM_007347.5(AP4E1):c.1177-17T>G
NM_007347.5(AP4E1):c.1209A>G (p.Ala403=) rs560609629
NM_007347.5(AP4E1):c.1269G>A (p.Glu423=)
NM_007347.5(AP4E1):c.1317-13A>G
NM_007347.5(AP4E1):c.1317-15T>C
NM_007347.5(AP4E1):c.132A>T (p.Thr44=) rs2063530664
NM_007347.5(AP4E1):c.1335A>G (p.Ala445=)
NM_007347.5(AP4E1):c.1396A>T (p.Ile466Phe)
NM_007347.5(AP4E1):c.1425G>T (p.Ala475=)
NM_007347.5(AP4E1):c.1429+10C>G
NM_007347.5(AP4E1):c.1429+17A>T
NM_007347.5(AP4E1):c.1430-18G>A
NM_007347.5(AP4E1):c.1430-20G>A
NM_007347.5(AP4E1):c.1455G>A (p.Gln485=)
NM_007347.5(AP4E1):c.1491T>G (p.Thr497=)
NM_007347.5(AP4E1):c.150+15G>A
NM_007347.5(AP4E1):c.151-10A>G
NM_007347.5(AP4E1):c.151-4T>G rs2141126254
NM_007347.5(AP4E1):c.1533T>G (p.Leu511=)
NM_007347.5(AP4E1):c.1549-11T>G
NM_007347.5(AP4E1):c.165A>G (p.Leu55=)
NM_007347.5(AP4E1):c.1694C>A (p.Ala565Glu) rs142762839
NM_007347.5(AP4E1):c.174G>A (p.Gln58=) rs1214813881
NM_007347.5(AP4E1):c.1851+19A>G
NM_007347.5(AP4E1):c.1851+7C>A
NM_007347.5(AP4E1):c.1914G>A (p.Ala638=)
NM_007347.5(AP4E1):c.1966+11A>G
NM_007347.5(AP4E1):c.2010C>G (p.Gly670=)
NM_007347.5(AP4E1):c.2019A>C (p.Gly673=) rs1555461061
NM_007347.5(AP4E1):c.2090+14T>A
NM_007347.5(AP4E1):c.2090+16A>G
NM_007347.5(AP4E1):c.2090+19A>G
NM_007347.5(AP4E1):c.2091-13del
NM_007347.5(AP4E1):c.2091-9C>A rs369000416
NM_007347.5(AP4E1):c.2125T>C (p.Leu709=)
NM_007347.5(AP4E1):c.222+11A>G
NM_007347.5(AP4E1):c.222+17dup
NM_007347.5(AP4E1):c.2346+11G>A
NM_007347.5(AP4E1):c.2347-10A>G
NM_007347.5(AP4E1):c.2358A>G (p.Ala786=)
NM_007347.5(AP4E1):c.2442C>T (p.Thr814=) rs1420419569
NM_007347.5(AP4E1):c.2574C>G (p.Leu858=)
NM_007347.5(AP4E1):c.2616G>T (p.Leu872=)
NM_007347.5(AP4E1):c.2874C>T (p.Asp958=) rs148111863
NM_007347.5(AP4E1):c.2905-13C>T
NM_007347.5(AP4E1):c.2905-16T>C
NM_007347.5(AP4E1):c.291C>T (p.Gly97=) rs1060504800
NM_007347.5(AP4E1):c.2925C>T (p.Cys975=) rs779844015
NM_007347.5(AP4E1):c.3096-15A>G
NM_007347.5(AP4E1):c.30G>A (p.Thr10=)
NM_007347.5(AP4E1):c.30G>T (p.Thr10=) rs771366562
NM_007347.5(AP4E1):c.3159A>G (p.Lys1053=)
NM_007347.5(AP4E1):c.3253+13A>G
NM_007347.5(AP4E1):c.3294C>T (p.Ile1098=) rs1380591581
NM_007347.5(AP4E1):c.3331T>C (p.Leu1111=)
NM_007347.5(AP4E1):c.3381G>T (p.Leu1127=)
NM_007347.5(AP4E1):c.3399G>C (p.Val1133=) rs1352776365
NM_007347.5(AP4E1):c.33G>A (p.Ala11=)
NM_007347.5(AP4E1):c.391T>C (p.Leu131=)
NM_007347.5(AP4E1):c.399C>T (p.Leu133=)
NM_007347.5(AP4E1):c.420+10_420+14del rs766725563
NM_007347.5(AP4E1):c.420+11G>C
NM_007347.5(AP4E1):c.465T>C (p.Thr155=)
NM_007347.5(AP4E1):c.542+9A>C rs1465985039
NM_007347.5(AP4E1):c.573A>G (p.Ala191=) rs368895241
NM_007347.5(AP4E1):c.585C>T (p.Phe195=) rs1301195194
NM_007347.5(AP4E1):c.672C>T (p.Ala224=)
NM_007347.5(AP4E1):c.703-19T>C
NM_007347.5(AP4E1):c.703-4del
NM_007347.5(AP4E1):c.762A>C (p.Val254=)
NM_007347.5(AP4E1):c.869+13C>T
NM_007347.5(AP4E1):c.869+9T>C
NM_007347.5(AP4E1):c.897T>C (p.Leu299=)
NM_007347.5(AP4E1):c.900T>C (p.Asp300=) rs2141164775
NM_007347.5(AP4E1):c.93C>T (p.Ser31=)
NM_007347.5(AP4E1):c.943+13T>C
NM_014231.5(VAMP1):c.105G>A (p.Gln35=)
NM_014231.5(VAMP1):c.129+19C>T
NM_014231.5(VAMP1):c.130-15C>G rs2137008471
NM_014231.5(VAMP1):c.195G>A (p.Leu65=)
NM_014231.5(VAMP1):c.2+19G>C
NM_014231.5(VAMP1):c.222A>G (p.Ala74=) rs2137008216
NM_014231.5(VAMP1):c.288+12T>G
NM_014231.5(VAMP1):c.289-16G>A
NM_014231.5(VAMP1):c.289-20T>G
NM_014231.5(VAMP1):c.289-6C>T
NM_014231.5(VAMP1):c.3-12G>A
NM_014231.5(VAMP1):c.3-14_3-13del
NM_014231.5(VAMP1):c.3-19T>C
NM_014231.5(VAMP1):c.3-9T>C
NM_014231.5(VAMP1):c.336T>C (p.Ile112=)
NM_014231.5(VAMP1):c.340+12T>G
NM_014231.5(VAMP1):c.340+16G>A rs1949966453
NM_014231.5(VAMP1):c.340+20C>T
NM_014231.5(VAMP1):c.341-10C>T
NM_014231.5(VAMP1):c.341-18_341-16del rs2137003159
NM_014231.5(VAMP1):c.341-21_341-19delinsAAA rs2137003183
NM_014231.5(VAMP1):c.351T>C (p.Phe117=)
NM_014363.6(SACS):c.10000T>C (p.Leu3334=) rs2137578816
NM_014363.6(SACS):c.10002G>A (p.Leu3334=) rs2137578794
NM_014363.6(SACS):c.10005C>T (p.Asn3335=)
NM_014363.6(SACS):c.10023C>T (p.Asp3341=) rs2137578682
NM_014363.6(SACS):c.10026T>C (p.Ser3342=)
NM_014363.6(SACS):c.10029A>G (p.Ala3343=) rs1018403111
NM_014363.6(SACS):c.10056A>G (p.Thr3352=)
NM_014363.6(SACS):c.10056A>T (p.Thr3352=)
NM_014363.6(SACS):c.1005G>C (p.Ser335=) rs1260369962
NM_014363.6(SACS):c.10062T>C (p.Asn3354=)
NM_014363.6(SACS):c.10063A>G (p.Ile3355Val)
NM_014363.6(SACS):c.10064T>G (p.Ile3355Arg) rs372488932
NM_014363.6(SACS):c.10068G>A (p.Glu3356=) rs559719069
NM_014363.6(SACS):c.10068G>C (p.Glu3356Asp)
NM_014363.6(SACS):c.10070G>A (p.Ser3357Asn)
NM_014363.6(SACS):c.10072C>G (p.Pro3358Ala)
NM_014363.6(SACS):c.10074C>T (p.Pro3358=)
NM_014363.6(SACS):c.10083C>T (p.Ile3361=)
NM_014363.6(SACS):c.10089G>A (p.Lys3363=)
NM_014363.6(SACS):c.10093C>G (p.Leu3365Val)
NM_014363.6(SACS):c.10093C>T (p.Leu3365=)
NM_014363.6(SACS):c.10095A>G (p.Leu3365=) rs2137578067
NM_014363.6(SACS):c.10122T>C (p.Phe3374=) rs2137577656
NM_014363.6(SACS):c.10125A>G (p.Arg3375=) rs766231682
NM_014363.6(SACS):c.10133A>G (p.Lys3378Arg)
NM_014363.6(SACS):c.10134A>G (p.Lys3378=)
NM_014363.6(SACS):c.10152T>C (p.Phe3384=)
NM_014363.6(SACS):c.10158A>G (p.Ala3386=) rs775633710
NM_014363.6(SACS):c.10162T>C (p.Leu3388=)
NM_014363.6(SACS):c.10164G>A (p.Leu3388=) rs1482698759
NM_014363.6(SACS):c.10194G>T (p.Leu3398Phe)
NM_014363.6(SACS):c.10200C>A (p.Ser3400=)
NM_014363.6(SACS):c.10200C>T (p.Ser3400=) rs1593123933
NM_014363.6(SACS):c.10219C>G (p.Leu3407Val)
NM_014363.6(SACS):c.10221A>T (p.Leu3407=)
NM_014363.6(SACS):c.10227A>G (p.Ser3409=) rs1593123878
NM_014363.6(SACS):c.10230T>C (p.Leu3410=)
NM_014363.6(SACS):c.10231C>G (p.Pro3411Ala)
NM_014363.6(SACS):c.10233G>A (p.Pro3411=) rs750961199
NM_014363.6(SACS):c.10233G>T (p.Pro3411=) rs750961199
NM_014363.6(SACS):c.10266C>T (p.Ser3422=)
NM_014363.6(SACS):c.10299A>T (p.Thr3433=) rs2137576092
NM_014363.6(SACS):c.1029T>C (p.His343=)
NM_014363.6(SACS):c.10308C>G (p.Ile3436Met)
NM_014363.6(SACS):c.10311T>C (p.Pro3437=) rs2137575945
NM_014363.6(SACS):c.10327A>G (p.Lys3443Glu)
NM_014363.6(SACS):c.10335A>T (p.Thr3445=) rs1883628192
NM_014363.6(SACS):c.1034G>A (p.Arg345Gln)
NM_014363.6(SACS):c.10353A>G (p.Ala3451=) rs1376530764
NM_014363.6(SACS):c.1035G>A (p.Arg345=) rs2137725795
NM_014363.6(SACS):c.10374C>T (p.His3458=)
NM_014363.6(SACS):c.10377A>G (p.Leu3459=)
NM_014363.6(SACS):c.1037C>T (p.Pro346Leu)
NM_014363.6(SACS):c.10383A>G (p.Glu3461=)
NM_014363.6(SACS):c.10384C>T (p.Leu3462=)
NM_014363.6(SACS):c.10398T>C (p.Ile3466=)
NM_014363.6(SACS):c.10398T>G (p.Ile3466Met)
NM_014363.6(SACS):c.1039A>G (p.Asn347Asp)
NM_014363.6(SACS):c.10401T>C (p.Gly3467=)
NM_014363.6(SACS):c.10428A>G (p.Val3476=) rs2137574942
NM_014363.6(SACS):c.10440C>T (p.His3480=)
NM_014363.6(SACS):c.10443C>T (p.Leu3481=) rs144087359
NM_014363.6(SACS):c.10454T>C (p.Ile3485Thr)
NM_014363.6(SACS):c.10458A>C (p.Glu3486Asp)
NM_014363.6(SACS):c.1045A>G (p.Ile349Val)
NM_014363.6(SACS):c.10467T>G (p.Ser3489=)
NM_014363.6(SACS):c.10473T>C (p.Asp3491=) rs2137574612
NM_014363.6(SACS):c.10489T>C (p.Leu3497=)
NM_014363.6(SACS):c.10494C>A (p.Ile3498=)
NM_014363.6(SACS):c.10494C>G (p.Ile3498Met)
NM_014363.6(SACS):c.10498C>T (p.Leu3500Phe)
NM_014363.6(SACS):c.10500T>A (p.Leu3500=) rs976749171
NM_014363.6(SACS):c.10506T>C (p.Asn3502=)
NM_014363.6(SACS):c.10510T>C (p.Leu3504=) rs771474242
NM_014363.6(SACS):c.10518T>C (p.Ser3506=) rs2137574163
NM_014363.6(SACS):c.10520C>G (p.Ala3507Gly)
NM_014363.6(SACS):c.10521T>C (p.Ala3507=)
NM_014363.6(SACS):c.10545A>G (p.Glu3515=) rs2137573919
NM_014363.6(SACS):c.10548A>G (p.Gln3516=)
NM_014363.6(SACS):c.10551T>A (p.Leu3517=) rs2137573889
NM_014363.6(SACS):c.10558A>G (p.Lys3520Glu)
NM_014363.6(SACS):c.10561C>T (p.Leu3521=) rs2137573846
NM_014363.6(SACS):c.10566A>C (p.Glu3522Asp)
NM_014363.6(SACS):c.10569T>C (p.Ser3523=)
NM_014363.6(SACS):c.10572A>G (p.Leu3524=) rs878854976
NM_014363.6(SACS):c.10573T>C (p.Leu3525=)
NM_014363.6(SACS):c.10575G>A (p.Leu3525=) rs2137573752
NM_014363.6(SACS):c.10581C>T (p.Ile3527=)
NM_014363.6(SACS):c.105G>A (p.Lys35=) rs1871673007
NM_014363.6(SACS):c.10600C>T (p.Leu3534=)
NM_014363.6(SACS):c.10605G>C (p.Lys3535Asn)
NM_014363.6(SACS):c.10608A>G (p.Gln3536=) rs1883610386
NM_014363.6(SACS):c.10614G>A (p.Lys3538=)
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10626T>C (p.Asp3542=)
NM_014363.6(SACS):c.10635G>C (p.Val3545=) rs2137573341
NM_014363.6(SACS):c.10650T>A (p.Val3550=) rs2137573236
NM_014363.6(SACS):c.10651A>G (p.Met3551Val)
NM_014363.6(SACS):c.10656T>C (p.Leu3552=) rs2137573154
NM_014363.6(SACS):c.1065T>C (p.Ala355=)
NM_014363.6(SACS):c.10665A>G (p.Lys3555=)
NM_014363.6(SACS):c.10666T>C (p.Leu3556=)
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.10677T>A (p.Pro3559=) rs2137572981
NM_014363.6(SACS):c.10680T>C (p.Asn3560=) rs2137572964
NM_014363.6(SACS):c.10683T>C (p.Asp3561=)
NM_014363.6(SACS):c.10714C>T (p.Pro3572Ser)
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.10716C>T (p.Pro3572=)
NM_014363.6(SACS):c.1071T>C (p.Ser357=)
NM_014363.6(SACS):c.10724A>G (p.His3575Arg)
NM_014363.6(SACS):c.10725T>C (p.His3575=) rs1368388819
NM_014363.6(SACS):c.10731A>C (p.Thr3577=) rs759287298
NM_014363.6(SACS):c.1073A>G (p.Asn358Ser)
NM_014363.6(SACS):c.10747G>A (p.Val3583Met)
NM_014363.6(SACS):c.10759A>C (p.Arg3587=)
NM_014363.6(SACS):c.10761A>G (p.Arg3587=)
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
NM_014363.6(SACS):c.10773A>G (p.Leu3591=) rs1465126175
NM_014363.6(SACS):c.1077T>C (p.Tyr359=) rs922749393
NM_014363.6(SACS):c.10794G>A (p.Gln3598=)
NM_014363.6(SACS):c.10797G>A (p.Gln3599=) rs2137571967
NM_014363.6(SACS):c.107A>G (p.Glu36Gly)
NM_014363.6(SACS):c.10800G>C (p.Leu3600Phe)
NM_014363.6(SACS):c.10812T>C (p.Ala3604=)
NM_014363.6(SACS):c.10818A>T (p.Glu3606Asp)
NM_014363.6(SACS):c.10825G>A (p.Val3609Met)
NM_014363.6(SACS):c.10830G>A (p.Arg3610=) rs2137571629
NM_014363.6(SACS):c.10832C>T (p.Ala3611Val)
NM_014363.6(SACS):c.1085A>G (p.Lys362Arg)
NM_014363.6(SACS):c.10866A>G (p.Gln3622=)
NM_014363.6(SACS):c.1086G>A (p.Lys362=)
NM_014363.6(SACS):c.10880T>G (p.Ile3627Ser)
NM_014363.6(SACS):c.10884T>C (p.Leu3628=)
NM_014363.6(SACS):c.108A>G (p.Glu36=) rs2137840633
NM_014363.6(SACS):c.10932T>C (p.Phe3644=) rs2137570828
NM_014363.6(SACS):c.10933C>T (p.Leu3645=) rs761683862
NM_014363.6(SACS):c.10935G>C (p.Leu3645=) rs2137570784
NM_014363.6(SACS):c.10941A>G (p.Glu3647=)
NM_014363.6(SACS):c.10944A>G (p.Leu3648=) rs2137570658
NM_014363.6(SACS):c.10948T>C (p.Leu3650=) rs1185242012
NM_014363.6(SACS):c.10966C>A (p.Pro3656Thr)
NM_014363.6(SACS):c.10968T>C (p.Pro3656=) rs1052860179
NM_014363.6(SACS):c.10971G>A (p.Glu3657=)
NM_014363.6(SACS):c.10975G>C (p.Ala3659Pro)
NM_014363.6(SACS):c.10977C>T (p.Ala3659=)
NM_014363.6(SACS):c.10991T>C (p.Ile3664Thr)
NM_014363.6(SACS):c.11017G>A (p.Val3673Ile)
NM_014363.6(SACS):c.1101C>T (p.Asn367=) rs2137725129
NM_014363.6(SACS):c.11025A>G (p.Gly3675=) rs2137569964
NM_014363.6(SACS):c.11037T>G (p.Leu3679=) rs1883575247
NM_014363.6(SACS):c.11039T>C (p.Ile3680Thr)
NM_014363.6(SACS):c.11040A>C (p.Ile3680=) rs750092480
NM_014363.6(SACS):c.11052A>G (p.Gly3684=)
NM_014363.6(SACS):c.11064T>C (p.Asn3688=) rs2137569675
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
NM_014363.6(SACS):c.11079A>G (p.Gln3693=) rs769714986
NM_014363.6(SACS):c.1107C>T (p.Thr369=) rs762838789
NM_014363.6(SACS):c.11100A>G (p.Leu3700=)
NM_014363.6(SACS):c.11109C>T (p.Ser3703=) rs1883570677
NM_014363.6(SACS):c.11124A>T (p.Pro3708=)
NM_014363.6(SACS):c.11127G>A (p.Glu3709=)
NM_014363.6(SACS):c.11130A>G (p.Lys3710=)
NM_014363.6(SACS):c.11135C>T (p.Thr3712Ile)
NM_014363.6(SACS):c.11139C>T (p.Pro3713=) rs1282794513
NM_014363.6(SACS):c.1113A>G (p.Val371=)
NM_014363.6(SACS):c.11145C>T (p.Ser3715=)
NM_014363.6(SACS):c.11146A>G (p.Ile3716Val)
NM_014363.6(SACS):c.11162G>A (p.Gly3721Asp)
NM_014363.6(SACS):c.11163T>C (p.Gly3721=)
NM_014363.6(SACS):c.11175T>C (p.Gly3725=) rs2137568885
NM_014363.6(SACS):c.11181A>G (p.Gln3727=)
NM_014363.6(SACS):c.11187G>A (p.Gln3729=) rs2137568781
NM_014363.6(SACS):c.11223G>C (p.Leu3741=)
NM_014363.6(SACS):c.11226T>C (p.Asp3742=) rs762007924
NM_014363.6(SACS):c.11229T>A (p.Pro3743=) rs2137568490
NM_014363.6(SACS):c.1122C>T (p.His374=) rs1261457815
NM_014363.6(SACS):c.11232T>A (p.Pro3744=) rs1593122516
NM_014363.6(SACS):c.11235T>C (p.Leu3745=)
NM_014363.6(SACS):c.11245A>G (p.Ile3749Val)
NM_014363.6(SACS):c.11247C>T (p.Ile3749=) rs2137568386
NM_014363.6(SACS):c.11258G>A (p.Arg3753Lys)
NM_014363.6(SACS):c.11271C>T (p.Asn3757=)
NM_014363.6(SACS):c.11272A>G (p.Ile3758Val)
NM_014363.6(SACS):c.11277G>A (p.Thr3759=)
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
NM_014363.6(SACS):c.1129A>G (p.Ile377Val)
NM_014363.6(SACS):c.11304T>C (p.Thr3768=) rs2137567832
NM_014363.6(SACS):c.11310A>G (p.Ala3770=) rs1438596591
NM_014363.6(SACS):c.11316C>T (p.Val3772=) rs768744922
NM_014363.6(SACS):c.11317T>C (p.Leu3773=) rs1194302679
NM_014363.6(SACS):c.1131T>C (p.Ile377=) rs2137724827
NM_014363.6(SACS):c.11323A>G (p.Ser3775Gly)
NM_014363.6(SACS):c.11334A>G (p.Glu3778=)
NM_014363.6(SACS):c.11346A>C (p.Ala3782=)
NM_014363.6(SACS):c.11358A>G (p.Glu3786=)
NM_014363.6(SACS):c.11371T>A (p.Leu3791Met)
NM_014363.6(SACS):c.11373G>A (p.Leu3791=) rs1883545757
NM_014363.6(SACS):c.11376A>C (p.Arg3792=) rs1883544819
NM_014363.6(SACS):c.11376A>G (p.Arg3792=) rs1883544819
NM_014363.6(SACS):c.11379G>A (p.Gly3793=)
NM_014363.6(SACS):c.11379G>C (p.Gly3793=) rs754896709
NM_014363.6(SACS):c.1137A>G (p.Leu379=)
NM_014363.6(SACS):c.11392A>G (p.Met3798Val)
NM_014363.6(SACS):c.11392A>T (p.Met3798Leu)
NM_014363.6(SACS):c.11406T>C (p.Gly3802=)
NM_014363.6(SACS):c.11421G>A (p.Lys3807=) rs2137566698
NM_014363.6(SACS):c.11427G>A (p.Glu3809=) rs2137566654
NM_014363.6(SACS):c.11430G>A (p.Glu3810=)
NM_014363.6(SACS):c.11436C>T (p.Val3812=) rs1440717272
NM_014363.6(SACS):c.1143G>A (p.Glu381=)
NM_014363.6(SACS):c.11445A>G (p.Leu3815=)
NM_014363.6(SACS):c.11454A>G (p.Glu3818=)
NM_014363.6(SACS):c.11457T>C (p.Ser3819=)
NM_014363.6(SACS):c.11473T>C (p.Leu3825=) rs2137566282
NM_014363.6(SACS):c.11478C>T (p.Tyr3826=)
NM_014363.6(SACS):c.11482C>T (p.Leu3828=)
NM_014363.6(SACS):c.11488T>A (p.Leu3830Ile)
NM_014363.6(SACS):c.11501C>T (p.Thr3834Ile)
NM_014363.6(SACS):c.11514G>A (p.Leu3838=) rs2137565976
NM_014363.6(SACS):c.11519A>G (p.Lys3840Arg)
NM_014363.6(SACS):c.11522A>G (p.His3841Arg)
NM_014363.6(SACS):c.1152T>C (p.Thr384=)
NM_014363.6(SACS):c.11559T>C (p.Tyr3853=) rs2137565554
NM_014363.6(SACS):c.1155G>A (p.Lys385=) rs1489092168
NM_014363.6(SACS):c.11568G>C (p.Val3856=) rs758545212
NM_014363.6(SACS):c.11571G>A (p.Leu3857=) rs1335896880
NM_014363.6(SACS):c.11575C>T (p.Arg3859Cys)
NM_014363.6(SACS):c.11576G>T (p.Arg3859Leu)
NM_014363.6(SACS):c.11592T>G (p.Ser3864=) rs2137565300
NM_014363.6(SACS):c.11593G>C (p.Glu3865Gln)
NM_014363.6(SACS):c.11598C>A (p.Gly3866=) rs2137565223
NM_014363.6(SACS):c.11619A>G (p.Glu3873=) rs2137565097
NM_014363.6(SACS):c.11628A>C (p.Thr3876=) rs2137565004
NM_014363.6(SACS):c.11640A>G (p.Val3880=)
NM_014363.6(SACS):c.11652G>A (p.Leu3884=)
NM_014363.6(SACS):c.11652G>C (p.Leu3884=)
NM_014363.6(SACS):c.11652G>T (p.Leu3884=) rs560937205
NM_014363.6(SACS):c.11679C>T (p.Val3893=) rs755241961
NM_014363.6(SACS):c.1167A>G (p.Lys389=) rs2137724548
NM_014363.6(SACS):c.11681A>G (p.Lys3894Arg)
NM_014363.6(SACS):c.11684T>A (p.Val3895Glu)
NM_014363.6(SACS):c.11697C>G (p.Leu3899=) rs767957360
NM_014363.6(SACS):c.11708G>A (p.Arg3903Gln)
NM_014363.6(SACS):c.1170A>C (p.Thr390=)
NM_014363.6(SACS):c.11712C>T (p.Asp3904=) rs1593121789
NM_014363.6(SACS):c.11715T>C (p.Leu3905=) rs1593121777
NM_014363.6(SACS):c.11718G>A (p.Ala3906=) rs373803461
NM_014363.6(SACS):c.11727C>T (p.Leu3909=)
NM_014363.6(SACS):c.11739T>C (p.Asp3913=)
NM_014363.6(SACS):c.1173T>A (p.Ser391=) rs150683286
NM_014363.6(SACS):c.1173T>G (p.Ser391=)
NM_014363.6(SACS):c.11748G>A (p.Leu3916=) rs2137563945
NM_014363.6(SACS):c.11749G>A (p.Val3917Ile)
NM_014363.6(SACS):c.11766A>G (p.Leu3922=) rs1593121687
NM_014363.6(SACS):c.11778T>C (p.Asp3926=) rs750575268
NM_014363.6(SACS):c.11787T>C (p.His3929=)
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11808G>T (p.Gly3936=)
NM_014363.6(SACS):c.11814T>C (p.Ile3938=)
NM_014363.6(SACS):c.11856G>A (p.Gly3952=) rs2137563341
NM_014363.6(SACS):c.11865T>C (p.His3955=)
NM_014363.6(SACS):c.1186A>G (p.Asn396Asp)
NM_014363.6(SACS):c.11877T>C (p.Thr3959=)
NM_014363.6(SACS):c.1189A>G (p.Ser397Gly)
NM_014363.6(SACS):c.11907T>C (p.Leu3969=)
NM_014363.6(SACS):c.11913T>G (p.Pro3971=)
NM_014363.6(SACS):c.11915G>A (p.Arg3972Gln)
NM_014363.6(SACS):c.11916A>G (p.Arg3972=) rs2137562654
NM_014363.6(SACS):c.11919A>G (p.Leu3973=)
NM_014363.6(SACS):c.1191T>C (p.Ser397=)
NM_014363.6(SACS):c.11925C>T (p.Ser3975=)
NM_014363.6(SACS):c.11931A>T (p.Ile3977=)
NM_014363.6(SACS):c.11940A>G (p.Glu3980=)
NM_014363.6(SACS):c.11944T>C (p.Leu3982=) rs2137562392
NM_014363.6(SACS):c.11946A>G (p.Leu3982=)
NM_014363.6(SACS):c.11958T>A (p.Thr3986=)
NM_014363.6(SACS):c.11981C>T (p.Ala3994Val)
NM_014363.6(SACS):c.11990C>T (p.Ser3997Phe)
NM_014363.6(SACS):c.11991T>C (p.Ser3997=) rs2137562156
NM_014363.6(SACS):c.11997A>G (p.Gln3999=)
NM_014363.6(SACS):c.12000A>G (p.Gly4000=)
NM_014363.6(SACS):c.12001A>C (p.Arg4001=)
NM_014363.6(SACS):c.12004T>C (p.Leu4002=) rs773165834
NM_014363.6(SACS):c.12009G>A (p.Gln4003=)
NM_014363.6(SACS):c.12039A>C (p.Thr4013=) rs2137561682
NM_014363.6(SACS):c.12039A>G (p.Thr4013=)
NM_014363.6(SACS):c.12042A>G (p.Gly4014=)
NM_014363.6(SACS):c.12045G>C (p.Leu4015=) rs2137561646
NM_014363.6(SACS):c.1204G>C (p.Gly402Arg)
NM_014363.6(SACS):c.12053T>C (p.Ile4018Thr)
NM_014363.6(SACS):c.12055A>G (p.Met4019Val)
NM_014363.6(SACS):c.12060G>A (p.Lys4020=) rs2137561471
NM_014363.6(SACS):c.12063T>C (p.His4021=) rs886050074
NM_014363.6(SACS):c.12069T>C (p.Asn4023=) rs747474648
NM_014363.6(SACS):c.12078T>A (p.Ala4026=) rs1259730258
NM_014363.6(SACS):c.12087C>T (p.Ala4029=)
NM_014363.6(SACS):c.12099A>G (p.Lys4033=) rs753090825
NM_014363.6(SACS):c.12099A>T (p.Lys4033Asn)
NM_014363.6(SACS):c.120G>C (p.Ala40=)
NM_014363.6(SACS):c.12102C>G (p.Ala4034=) rs1359075857
NM_014363.6(SACS):c.12103A>G (p.Ile4035Val)
NM_014363.6(SACS):c.12114C>T (p.Cys4038=) rs774322849
NM_014363.6(SACS):c.12121C>T (p.Leu4041=)
NM_014363.6(SACS):c.12123A>G (p.Leu4041=)
NM_014363.6(SACS):c.12126A>G (p.Arg4042=)
NM_014363.6(SACS):c.1212T>C (p.Ser404=) rs1320045340
NM_014363.6(SACS):c.12156G>A (p.Lys4052=) rs1231366855
NM_014363.6(SACS):c.1215T>C (p.Ser405=)
NM_014363.6(SACS):c.12162A>G (p.Gln4054=) rs1593121184
NM_014363.6(SACS):c.12167C>A (p.Thr4056Lys)
NM_014363.6(SACS):c.12168A>G (p.Thr4056=) rs2137560796
NM_014363.6(SACS):c.12169T>C (p.Leu4057=)
NM_014363.6(SACS):c.12175G>A (p.Val4059Ile)
NM_014363.6(SACS):c.12186T>C (p.Phe4062=) rs2137560600
NM_014363.6(SACS):c.12190C>T (p.Pro4064Ser)
NM_014363.6(SACS):c.12193A>G (p.Ile4065Val)
NM_014363.6(SACS):c.12205A>C (p.Arg4069=) rs772628731
NM_014363.6(SACS):c.12219T>C (p.Phe4073=) rs1007835171
NM_014363.6(SACS):c.12231G>A (p.Lys4077=) rs1355094261
NM_014363.6(SACS):c.12232C>A (p.Arg4078=) rs141315518
NM_014363.6(SACS):c.12232C>G (p.Arg4078Gly)
NM_014363.6(SACS):c.12233G>C (p.Arg4078Pro)
NM_014363.6(SACS):c.12243T>C (p.Asn4081=) rs1566056564
NM_014363.6(SACS):c.12261C>T (p.Tyr4087=)
NM_014363.6(SACS):c.1227T>C (p.Ser409=) rs2137723941
NM_014363.6(SACS):c.12309A>T (p.Ala4103=)
NM_014363.6(SACS):c.12315T>G (p.Thr4105=)
NM_014363.6(SACS):c.12318T>C (p.Leu4106=) rs2137559627
NM_014363.6(SACS):c.12324A>G (p.Ser4108=)
NM_014363.6(SACS):c.12333C>T (p.Asp4111=) rs2137559475
NM_014363.6(SACS):c.12335A>G (p.Asn4112Ser)
NM_014363.6(SACS):c.12336T>C (p.Asn4112=)
NM_014363.6(SACS):c.12345T>C (p.Ser4115=)
NM_014363.6(SACS):c.12345T>G (p.Ser4115=)
NM_014363.6(SACS):c.12348C>T (p.Asp4116=) rs2137559335
NM_014363.6(SACS):c.12351T>C (p.Thr4117=)
NM_014363.6(SACS):c.12354A>G (p.Ser4118=) rs149691102
NM_014363.6(SACS):c.12358T>G (p.Leu4120Val)
NM_014363.6(SACS):c.12375A>T (p.Gly4125=) rs1436419066
NM_014363.6(SACS):c.12379A>G (p.Asn4127Asp)
NM_014363.6(SACS):c.12380A>G (p.Asn4127Ser)
NM_014363.6(SACS):c.12387T>A (p.Ile4129=)
NM_014363.6(SACS):c.12390C>T (p.Tyr4130=)
NM_014363.6(SACS):c.12399T>C (p.Gly4133=) rs2137558935
NM_014363.6(SACS):c.1240C>T (p.Leu414=) rs765155455
NM_014363.6(SACS):c.12413G>A (p.Ser4138Asn)
NM_014363.6(SACS):c.12420A>G (p.Gly4140=)
NM_014363.6(SACS):c.12435T>C (p.Ser4145=)
NM_014363.6(SACS):c.12437C>T (p.Ser4146Leu)
NM_014363.6(SACS):c.12441G>A (p.Glu4147=) rs1342375376
NM_014363.6(SACS):c.12456A>G (p.Glu4152=)
NM_014363.6(SACS):c.12466C>T (p.Pro4156Ser)
NM_014363.6(SACS):c.12471C>T (p.Gly4157=)
NM_014363.6(SACS):c.12474A>C (p.Thr4158=)
NM_014363.6(SACS):c.12477A>T (p.Pro4159=) rs2137558251
NM_014363.6(SACS):c.12492T>A (p.Ile4164=)
NM_014363.6(SACS):c.12498C>T (p.Tyr4166=) rs2137558150
NM_014363.6(SACS):c.124A>G (p.Thr42Ala)
NM_014363.6(SACS):c.12507T>C (p.Leu4169=) rs1883464496
NM_014363.6(SACS):c.12533C>A (p.Pro4178Gln)
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
NM_014363.6(SACS):c.12534G>A (p.Pro4178=)
NM_014363.6(SACS):c.12534G>T (p.Pro4178=) rs765128892
NM_014363.6(SACS):c.12540A>G (p.Glu4180=)
NM_014363.6(SACS):c.12549G>A (p.Gly4183=)
NM_014363.6(SACS):c.1254A>G (p.Pro418=) rs750585737
NM_014363.6(SACS):c.12552C>T (p.Tyr4184=)
NM_014363.6(SACS):c.12576T>C (p.Asp4192=) rs2137557517
NM_014363.6(SACS):c.12577A>G (p.Ile4193Val)
NM_014363.6(SACS):c.12578T>A (p.Ile4193Asn)
NM_014363.6(SACS):c.12588A>G (p.Ser4196=)
NM_014363.6(SACS):c.12589T>C (p.Tyr4197His)
NM_014363.6(SACS):c.125C>T (p.Thr42Ile)
NM_014363.6(SACS):c.12609T>C (p.Tyr4203=) rs1446053286
NM_014363.6(SACS):c.12612A>G (p.Ala4204=) rs2137557183
NM_014363.6(SACS):c.12618T>C (p.Ile4206=) rs1883457103
NM_014363.6(SACS):c.12627A>G (p.Glu4209=)
NM_014363.6(SACS):c.12640G>A (p.Asp4214Asn)
NM_014363.6(SACS):c.1264A>G (p.Ile422Val)
NM_014363.6(SACS):c.12661C>T (p.Leu4221=) rs767622491
NM_014363.6(SACS):c.12678G>A (p.Gln4226=)
NM_014363.6(SACS):c.12682G>A (p.Asp4228Asn)
NM_014363.6(SACS):c.12686T>C (p.Ile4229Thr)
NM_014363.6(SACS):c.12693T>C (p.Tyr4231=) rs1163399365
NM_014363.6(SACS):c.12702T>C (p.Tyr4234=) rs907197100
NM_014363.6(SACS):c.12714C>T (p.Ser4238=) rs1883449068
NM_014363.6(SACS):c.12717T>C (p.Ser4239=) rs2137556175
NM_014363.6(SACS):c.12738A>G (p.Ser4246=)
NM_014363.6(SACS):c.12741A>G (p.Arg4247=)
NM_014363.6(SACS):c.12753C>T (p.Ser4251=) rs1247851946
NM_014363.6(SACS):c.12775C>G (p.Pro4259Ala)
NM_014363.6(SACS):c.12775C>T (p.Pro4259Ser)
NM_014363.6(SACS):c.12777T>C (p.Pro4259=)
NM_014363.6(SACS):c.12777T>G (p.Pro4259=)
NM_014363.6(SACS):c.12779C>G (p.Ser4260Cys)
NM_014363.6(SACS):c.12780T>C (p.Ser4260=)
NM_014363.6(SACS):c.12783A>G (p.Thr4261=) rs2137555437
NM_014363.6(SACS):c.12787A>C (p.Thr4263Pro)
NM_014363.6(SACS):c.12789C>A (p.Thr4263=)
NM_014363.6(SACS):c.12789C>T (p.Thr4263=)
NM_014363.6(SACS):c.1278A>G (p.Leu426=)
NM_014363.6(SACS):c.12807C>T (p.Leu4269=)
NM_014363.6(SACS):c.12809C>T (p.Thr4270Ile)
NM_014363.6(SACS):c.12810C>T (p.Thr4270=) rs1286784591
NM_014363.6(SACS):c.12812C>T (p.Pro4271Leu) rs779668584
NM_014363.6(SACS):c.12813T>C (p.Pro4271=)
NM_014363.6(SACS):c.1281A>T (p.Ser427=)
NM_014363.6(SACS):c.12849A>G (p.Arg4283=)
NM_014363.6(SACS):c.12863C>T (p.Thr4288Ile)
NM_014363.6(SACS):c.12867T>C (p.Ser4289=) rs2137554119
NM_014363.6(SACS):c.12873A>G (p.Lys4291=) rs2137554075
NM_014363.6(SACS):c.12875A>C (p.His4292Pro)
NM_014363.6(SACS):c.12884C>A (p.Pro4295His)
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12885C>A (p.Pro4295=)
NM_014363.6(SACS):c.12885C>G (p.Pro4295=)
NM_014363.6(SACS):c.12885C>T (p.Pro4295=)
NM_014363.6(SACS):c.12894T>G (p.Leu4298=)
NM_014363.6(SACS):c.12902A>G (p.Asn4301Ser)
NM_014363.6(SACS):c.1290T>C (p.Asp430=) rs1194352705
NM_014363.6(SACS):c.12916A>G (p.Ile4306Val)
NM_014363.6(SACS):c.12921A>G (p.Leu4307=) rs2137553613
NM_014363.6(SACS):c.12927A>G (p.Glu4309=) rs1211000585
NM_014363.6(SACS):c.12951A>G (p.Ala4317=) rs1258695869
NM_014363.6(SACS):c.12966A>G (p.Glu4322=) rs2137553118
NM_014363.6(SACS):c.12969G>T (p.Ser4323=)
NM_014363.6(SACS):c.12974G>A (p.Arg4325Gln)
NM_014363.6(SACS):c.12975A>G (p.Arg4325=) rs1883424394
NM_014363.6(SACS):c.12984T>A (p.Ile4328=)
NM_014363.6(SACS):c.12993G>T (p.Arg4331=)
NM_014363.6(SACS):c.13024C>T (p.Pro4342Ser)
NM_014363.6(SACS):c.13025C>T (p.Pro4342Leu)
NM_014363.6(SACS):c.1302A>G (p.Lys434=) rs2137723320
NM_014363.6(SACS):c.13039A>C (p.Ile4347Leu)
NM_014363.6(SACS):c.13046A>G (p.Asn4349Ser)
NM_014363.6(SACS):c.1305A>G (p.Gly435=)
NM_014363.6(SACS):c.13063T>C (p.Leu4355=) rs1883419699
NM_014363.6(SACS):c.13077C>A (p.Ile4359=)
NM_014363.6(SACS):c.13080C>T (p.Asn4360=)
NM_014363.6(SACS):c.13092A>G (p.Lys4364=) rs1478206117
NM_014363.6(SACS):c.13101T>C (p.Phe4367=)
NM_014363.6(SACS):c.13107T>C (p.Asp4369=) rs1445233565
NM_014363.6(SACS):c.13110A>G (p.Gln4370=) rs1593119713
NM_014363.6(SACS):c.13116A>C (p.Ala4372=)
NM_014363.6(SACS):c.13143A>G (p.Ser4381=)
NM_014363.6(SACS):c.13146C>T (p.Thr4382=)
NM_014363.6(SACS):c.13157G>A (p.Arg4386Gln)
NM_014363.6(SACS):c.13160T>A (p.Phe4387Tyr)
NM_014363.6(SACS):c.13164G>A (p.Gln4388=) rs751944796
NM_014363.6(SACS):c.13176C>T (p.Tyr4392=) rs1285760809
NM_014363.6(SACS):c.13191C>T (p.Phe4397=) rs758008743
NM_014363.6(SACS):c.1320C>T (p.Phe440=)
NM_014363.6(SACS):c.13217C>T (p.Thr4406Met)
NM_014363.6(SACS):c.13226A>G (p.Lys4409Arg)
NM_014363.6(SACS):c.13227A>G (p.Lys4409=) rs745934269
NM_014363.6(SACS):c.13233A>C (p.Glu4411Asp)
NM_014363.6(SACS):c.13233A>G (p.Glu4411=)
NM_014363.6(SACS):c.13236A>G (p.Arg4412=) rs1883407579
NM_014363.6(SACS):c.13238A>G (p.Gln4413Arg)
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
NM_014363.6(SACS):c.13245G>A (p.Gln4415=)
NM_014363.6(SACS):c.13248C>T (p.Asn4416=) rs2137550538
NM_014363.6(SACS):c.13270G>C (p.Ala4424Pro)
NM_014363.6(SACS):c.13278G>A (p.Gln4426=)
NM_014363.6(SACS):c.13287T>C (p.Ser4429=)
NM_014363.6(SACS):c.13292G>T (p.Arg4431Met)
NM_014363.6(SACS):c.13293G>A (p.Arg4431=)
NM_014363.6(SACS):c.13299T>C (p.Phe4433=) rs1883399448
NM_014363.6(SACS):c.13304C>T (p.Pro4435Leu)
NM_014363.6(SACS):c.13305T>C (p.Pro4435=) rs2137549857
NM_014363.6(SACS):c.13308C>A (p.Pro4436=)
NM_014363.6(SACS):c.13319C>T (p.Ser4440Leu)
NM_014363.6(SACS):c.13320G>A (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.13320G>C (p.Ser4440=) rs759847087
NM_014363.6(SACS):c.13320G>T (p.Ser4440=)
NM_014363.6(SACS):c.1332A>G (p.Ala444=) rs1039811925
NM_014363.6(SACS):c.13341A>G (p.Ala4447=)
NM_014363.6(SACS):c.13342C>T (p.Arg4448Cys)
NM_014363.6(SACS):c.13343G>A (p.Arg4448His)
NM_014363.6(SACS):c.13353A>G (p.Leu4451=)
NM_014363.6(SACS):c.13379C>G (p.Ala4460Gly)
NM_014363.6(SACS):c.13380T>A (p.Ala4460=)
NM_014363.6(SACS):c.13386G>A (p.Arg4462=)
NM_014363.6(SACS):c.13409A>G (p.Asn4470Ser) rs757326594
NM_014363.6(SACS):c.13422C>T (p.Cys4474=)
NM_014363.6(SACS):c.13464T>C (p.Ala4488=) rs2137548841
NM_014363.6(SACS):c.13467C>T (p.Asp4489=)
NM_014363.6(SACS):c.13473T>C (p.Ala4491=) rs2137548744
NM_014363.6(SACS):c.13476G>A (p.Val4492=) rs370362235
NM_014363.6(SACS):c.13482A>C (p.Gly4494=) rs200439163
NM_014363.6(SACS):c.13500A>G (p.Val4500=) rs2137548578
NM_014363.6(SACS):c.13503A>C (p.Lys4501Asn)
NM_014363.6(SACS):c.13530G>A (p.Glu4510=)
NM_014363.6(SACS):c.13533A>G (p.Glu4511=) rs1593119019
NM_014363.6(SACS):c.13542G>A (p.Gln4514=)
NM_014363.6(SACS):c.13545A>G (p.Gln4515=) rs1356049808
NM_014363.6(SACS):c.13557G>C (p.Leu4519=) rs2137548197
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.13569T>C (p.Val4523=) rs2137548112
NM_014363.6(SACS):c.13573A>G (p.Thr4525Ala)
NM_014363.6(SACS):c.13575A>G (p.Thr4525=) rs2137548032
NM_014363.6(SACS):c.13575A>T (p.Thr4525=) rs2137548032
NM_014363.6(SACS):c.13587T>C (p.Tyr4529=)
NM_014363.6(SACS):c.13590T>G (p.Gly4530=)
NM_014363.6(SACS):c.13597A>G (p.Ser4533Gly)
NM_014363.6(SACS):c.135G>A (p.Pro45=)
NM_014363.6(SACS):c.13600T>C (p.Leu4534=)
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
NM_014363.6(SACS):c.13614C>T (p.Tyr4538=) rs927804920
NM_014363.6(SACS):c.13618G>A (p.Asp4540Asn)
NM_014363.6(SACS):c.13629C>G (p.Pro4543=) rs749846446
NM_014363.6(SACS):c.1363G>A (p.Glu455Lys)
NM_014363.6(SACS):c.13668T>C (p.Val4556=) rs2137547645
NM_014363.6(SACS):c.13671T>A (p.Ala4557=) rs2137547633
NM_014363.6(SACS):c.13672A>G (p.Met4558Val)
NM_014363.6(SACS):c.13674G>A (p.Met4558Ile)
NM_014363.6(SACS):c.13680G>T (p.Val4560=) rs2137547578
NM_014363.6(SACS):c.13686A>G (p.Glu4562=) rs780522946
NM_014363.6(SACS):c.1369A>G (p.Ser457Gly)
NM_014363.6(SACS):c.13704A>C (p.Ile4568=) rs1304752867
NM_014363.6(SACS):c.13713T>A (p.Leu4571=)
NM_014363.6(SACS):c.13716A>G (p.Glu4572=)
NM_014363.6(SACS):c.13722T>C (p.Phe4574=)
NM_014363.6(SACS):c.13723A>T (p.Met4575Leu)
NM_014363.6(SACS):c.13725G>A (p.Met4575Ile)
NM_014363.6(SACS):c.13734A>G (p.Lys4578=)
NM_014363.6(SACS):c.13737G>A (p.Val4579=) rs761855750
NM_014363.6(SACS):c.1380C>T (p.Leu460=)
NM_014363.6(SACS):c.1392C>T (p.Ile464=)
NM_014363.6(SACS):c.1393A>G (p.Ser465Gly)
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.1428C>T (p.Ser476=) rs1870274256
NM_014363.6(SACS):c.1434A>G (p.Lys478=) rs1593144899
NM_014363.6(SACS):c.1443G>A (p.Glu481=) rs1020930335
NM_014363.6(SACS):c.1458A>G (p.Arg486=) rs2137722075
NM_014363.6(SACS):c.1467A>G (p.Ala489=)
NM_014363.6(SACS):c.1479T>C (p.Asn493=)
NM_014363.6(SACS):c.1497T>C (p.Asn499=) rs1285415188
NM_014363.6(SACS):c.1498G>A (p.Val500Ile) rs1244967438
NM_014363.6(SACS):c.1503C>T (p.Val501=)
NM_014363.6(SACS):c.1512T>C (p.Ala504=)
NM_014363.6(SACS):c.1515T>C (p.Tyr505=)
NM_014363.6(SACS):c.1521T>G (p.Thr507=) rs751762471
NM_014363.6(SACS):c.1522C>T (p.Leu508=) rs2137721558
NM_014363.6(SACS):c.1528T>C (p.Leu510=) rs2137721505
NM_014363.6(SACS):c.1530A>G (p.Leu510=)
NM_014363.6(SACS):c.1533T>C (p.Asp511=) rs778011175
NM_014363.6(SACS):c.153G>C (p.Leu51=) rs2137840209
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
NM_014363.6(SACS):c.1546C>T (p.Leu516=)
NM_014363.6(SACS):c.1551G>A (p.Glu517=)
NM_014363.6(SACS):c.1560G>C (p.Lys520Asn)
NM_014363.6(SACS):c.1563C>T (p.Ser521=)
NM_014363.6(SACS):c.1566T>C (p.Ser522=)
NM_014363.6(SACS):c.1566T>G (p.Ser522=) rs1203606581
NM_014363.6(SACS):c.1575C>G (p.Pro525=) rs2137720978
NM_014363.6(SACS):c.1576T>C (p.Leu526=)
NM_014363.6(SACS):c.1581A>G (p.Ser527=)
NM_014363.6(SACS):c.1590T>C (p.Val530=) rs2137720859
NM_014363.6(SACS):c.1592T>C (p.Ile531Thr)
NM_014363.6(SACS):c.1599G>A (p.Lys533=) rs2137720717
NM_014363.6(SACS):c.159C>T (p.Arg53=)
NM_014363.6(SACS):c.15G>A (p.Glu5=)
NM_014363.6(SACS):c.1600C>G (p.Leu534Val)
NM_014363.6(SACS):c.1617C>T (p.Ser539=)
NM_014363.6(SACS):c.1625A>C (p.Lys542Thr)
NM_014363.6(SACS):c.1638A>G (p.Gln546=) rs755389972
NM_014363.6(SACS):c.1643T>C (p.Val548Ala)
NM_014363.6(SACS):c.1647A>G (p.Leu549=) rs942512596
NM_014363.6(SACS):c.1650G>A (p.Glu550=)
NM_014363.6(SACS):c.1654C>G (p.Leu552Val)
NM_014363.6(SACS):c.1654C>T (p.Leu552=)
NM_014363.6(SACS):c.1659C>G (p.Phe553Leu)
NM_014363.6(SACS):c.165C>G (p.Gly55=)
NM_014363.6(SACS):c.1662C>A (p.Ser554Arg)
NM_014363.6(SACS):c.1662C>T (p.Ser554=) rs185812845
NM_014363.6(SACS):c.1675A>G (p.Asn559Asp)
NM_014363.6(SACS):c.1693A>G (p.Ile565Val)
NM_014363.6(SACS):c.1701T>G (p.Cys567Trp)
NM_014363.6(SACS):c.1702G>A (p.Asp568Asn)
NM_014363.6(SACS):c.171+12C>A
NM_014363.6(SACS):c.171+13C>G
NM_014363.6(SACS):c.171+14G>A
NM_014363.6(SACS):c.171+15G>C
NM_014363.6(SACS):c.171+18G>T
NM_014363.6(SACS):c.171+7G>A
NM_014363.6(SACS):c.171+9dup
NM_014363.6(SACS):c.1710C>T (p.Val570=)
NM_014363.6(SACS):c.172-11C>A
NM_014363.6(SACS):c.172-11C>T
NM_014363.6(SACS):c.172-12G>T
NM_014363.6(SACS):c.172-18T>G
NM_014363.6(SACS):c.172-20T>G
NM_014363.6(SACS):c.172-8T>C rs2137815970
NM_014363.6(SACS):c.1734A>G (p.Ser578=)
NM_014363.6(SACS):c.1760C>G (p.Thr587Arg)
NM_014363.6(SACS):c.1761A>G (p.Thr587=) rs2137719149
NM_014363.6(SACS):c.1773C>T (p.Leu591=) rs759498792
NM_014363.6(SACS):c.1779C>T (p.Tyr593=)
NM_014363.6(SACS):c.177T>G (p.Ser59=)
NM_014363.6(SACS):c.1791A>G (p.Ser597=) rs371175405
NM_014363.6(SACS):c.1794G>A (p.Gly598=) rs1184294805
NM_014363.6(SACS):c.1794G>C (p.Gly598=) rs1184294805
NM_014363.6(SACS):c.1806C>T (p.Ala602=)
NM_014363.6(SACS):c.1812A>G (p.Val604=) rs2137718559
NM_014363.6(SACS):c.1818G>A (p.Gly606=)
NM_014363.6(SACS):c.1828G>A (p.Ala610Thr)
NM_014363.6(SACS):c.1830T>C (p.Ala610=)
NM_014363.6(SACS):c.1833T>A (p.Ala611=) rs780001448
NM_014363.6(SACS):c.1833T>C (p.Ala611=) rs780001448
NM_014363.6(SACS):c.1842C>T (p.Leu614=) rs781774809
NM_014363.6(SACS):c.1853C>T (p.Ser618Phe)
NM_014363.6(SACS):c.1864C>T (p.Pro622Ser)
NM_014363.6(SACS):c.1866T>A (p.Pro622=)
NM_014363.6(SACS):c.186C>T (p.Ile62=) rs2137815857
NM_014363.6(SACS):c.1872G>A (p.Arg624=)
NM_014363.6(SACS):c.1878G>A (p.Val626=)
NM_014363.6(SACS):c.1881G>C (p.Thr627=)
NM_014363.6(SACS):c.1887G>A (p.Ala629=) rs772895627
NM_014363.6(SACS):c.1887G>C (p.Ala629=)
NM_014363.6(SACS):c.1893G>A (p.Val631=)
NM_014363.6(SACS):c.1894C>A (p.Arg632=)
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
NM_014363.6(SACS):c.18C>T (p.Asn6=) rs2137962175
NM_014363.6(SACS):c.1908G>A (p.Arg636=) rs758017143
NM_014363.6(SACS):c.1911G>A (p.Lys637=)
NM_014363.6(SACS):c.1914T>C (p.Cys638=)
NM_014363.6(SACS):c.1920C>T (p.His640=) rs1870214029
NM_014363.6(SACS):c.1923G>C (p.Leu641=)
NM_014363.6(SACS):c.193G>A (p.Gly65Arg)
NM_014363.6(SACS):c.1947C>T (p.His649=)
NM_014363.6(SACS):c.194G>A (p.Gly65Glu)
NM_014363.6(SACS):c.1950T>C (p.Leu650=) rs2137717099
NM_014363.6(SACS):c.1956A>G (p.Glu652=)
NM_014363.6(SACS):c.1977C>G (p.Ala659=) rs2137716894
NM_014363.6(SACS):c.1981A>G (p.Ser661Gly)
NM_014363.6(SACS):c.1989G>T (p.Leu663=) rs942220473
NM_014363.6(SACS):c.1992T>G (p.Leu664=)
NM_014363.6(SACS):c.20+13A>G
NM_014363.6(SACS):c.20+18T>C
NM_014363.6(SACS):c.20+7G>T
NM_014363.6(SACS):c.20+9G>A rs749087846
NM_014363.6(SACS):c.2004G>T (p.Leu668=)
NM_014363.6(SACS):c.2019T>C (p.Asn673=)
NM_014363.6(SACS):c.201G>C (p.Leu67=)
NM_014363.6(SACS):c.2028T>C (p.Phe676=)
NM_014363.6(SACS):c.2031C>G (p.Val677=)
NM_014363.6(SACS):c.2034C>A (p.Pro678=) rs772289878
NM_014363.6(SACS):c.2034C>T (p.Pro678=) rs772289878
NM_014363.6(SACS):c.2043A>C (p.Ser681=)
NM_014363.6(SACS):c.2043A>G (p.Ser681=)
NM_014363.6(SACS):c.204T>A (p.Thr68=)
NM_014363.6(SACS):c.205T>G (p.Ser69Ala)
NM_014363.6(SACS):c.2064C>T (p.Val688=) rs2137716067
NM_014363.6(SACS):c.2075C>A (p.Thr692Asn)
NM_014363.6(SACS):c.2076C>T (p.Thr692=)
NM_014363.6(SACS):c.207C>T (p.Ser69=) rs2137815615
NM_014363.6(SACS):c.2085A>G (p.Glu695=) rs1381278603
NM_014363.6(SACS):c.2093+19A>G
NM_014363.6(SACS):c.2093+7G>T
NM_014363.6(SACS):c.2093+8T>G
NM_014363.6(SACS):c.2093+9C>A rs1870192787
NM_014363.6(SACS):c.2093+9C>T
NM_014363.6(SACS):c.2094-10C>G
NM_014363.6(SACS):c.2094-12_2094-11dup
NM_014363.6(SACS):c.2094-14C>T rs886038601
NM_014363.6(SACS):c.2094-8C>T rs1870138596
NM_014363.6(SACS):c.2094-9C>T rs1870138747
NM_014363.6(SACS):c.2097C>T (p.Ser699=)
NM_014363.6(SACS):c.21-10C>G rs1186179760
NM_014363.6(SACS):c.21-10C>T rs1186179760
NM_014363.6(SACS):c.21-11G>A
NM_014363.6(SACS):c.21-11G>C
NM_014363.6(SACS):c.21-13C>T
NM_014363.6(SACS):c.21-15C>T
NM_014363.6(SACS):c.21-15CT[4]
NM_014363.6(SACS):c.21-16C>T
NM_014363.6(SACS):c.21-17C>T
NM_014363.6(SACS):c.21-18T>C
NM_014363.6(SACS):c.21-6C>T
NM_014363.6(SACS):c.21-8T>C rs1871685627
NM_014363.6(SACS):c.2106A>G (p.Pro702=)
NM_014363.6(SACS):c.210A>G (p.Lys70=) rs2137815590
NM_014363.6(SACS):c.2112T>C (p.Leu704=) rs1870135106
NM_014363.6(SACS):c.2112T>G (p.Leu704=)
NM_014363.6(SACS):c.2115A>G (p.Glu705=) rs2137710672
NM_014363.6(SACS):c.2123T>A (p.Phe708Tyr)
NM_014363.6(SACS):c.2125A>G (p.Ile709Val)
NM_014363.6(SACS):c.2132A>G (p.Asp711Gly)
NM_014363.6(SACS):c.2136C>T (p.Asn712=)
NM_014363.6(SACS):c.2145T>G (p.Pro715=) rs1870132046
NM_014363.6(SACS):c.2149C>T (p.Leu717Phe)
NM_014363.6(SACS):c.2156C>T (p.Ala719Val)
NM_014363.6(SACS):c.2163A>G (p.Leu721=) rs1471003728
NM_014363.6(SACS):c.2175C>T (p.Ala725=) rs756363296
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
NM_014363.6(SACS):c.2181C>T (p.Thr727=)
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly) rs752059006
NM_014363.6(SACS):c.2185+18T>C
NM_014363.6(SACS):c.2185+8A>G rs1870126120
NM_014363.6(SACS):c.2185+9G>A rs2137709802
NM_014363.6(SACS):c.2186-15G>C
NM_014363.6(SACS):c.2186-18T>G
NM_014363.6(SACS):c.2186-19T>G
NM_014363.6(SACS):c.2186-6T>C rs2137646278
NM_014363.6(SACS):c.2186-7T>C
NM_014363.6(SACS):c.2186-8A>G rs2137646308
NM_014363.6(SACS):c.2202G>A (p.Gln734=)
NM_014363.6(SACS):c.2203C>T (p.Leu735=) rs1462906765
NM_014363.6(SACS):c.2212C>T (p.Leu738=) rs2137646064
NM_014363.6(SACS):c.2220A>C (p.Pro740=)
NM_014363.6(SACS):c.2220A>G (p.Pro740=) rs772849329
NM_014363.6(SACS):c.2220A>T (p.Pro740=) rs772849329
NM_014363.6(SACS):c.2223A>G (p.Glu741=) rs1203567131
NM_014363.6(SACS):c.2232A>C (p.Ala744=)
NM_014363.6(SACS):c.2233C>A (p.Arg745Ser)
NM_014363.6(SACS):c.2240T>C (p.Ile747Thr)
NM_014363.6(SACS):c.2244G>A (p.Lys748=)
NM_014363.6(SACS):c.2247A>G (p.Glu749=)
NM_014363.6(SACS):c.2274A>G (p.Arg758=)
NM_014363.6(SACS):c.2280G>A (p.Leu760=) rs2137645428
NM_014363.6(SACS):c.2295T>C (p.Tyr765=) rs2137645257
NM_014363.6(SACS):c.2298A>G (p.Pro766=)
NM_014363.6(SACS):c.2315A>C (p.Asn772Thr)
NM_014363.6(SACS):c.2316T>C (p.Asn772=) rs2137645108
NM_014363.6(SACS):c.2322A>G (p.Pro774=) rs1869225328
NM_014363.6(SACS):c.2340G>A (p.Lys780=)
NM_014363.6(SACS):c.2346T>C (p.Val782=) rs1353395473
NM_014363.6(SACS):c.2352A>G (p.Lys784=) rs2137644764
NM_014363.6(SACS):c.2356C>A (p.Leu786Ile) rs267603782
NM_014363.6(SACS):c.2358T>G (p.Leu786=)
NM_014363.6(SACS):c.2360A>G (p.Tyr787Cys)
NM_014363.6(SACS):c.2373A>G (p.Ser791=) rs2137644572
NM_014363.6(SACS):c.2382G>A (p.Leu794=)
NM_014363.6(SACS):c.2419A>G (p.Ile807Val)
NM_014363.6(SACS):c.2422C>T (p.Leu808=)
NM_014363.6(SACS):c.2425G>C (p.Glu809Gln)
NM_014363.6(SACS):c.2427G>A (p.Glu809=) rs878854978
NM_014363.6(SACS):c.2432G>A (p.Gly811Asp)
NM_014363.6(SACS):c.2460C>G (p.Leu820=) rs761330691
NM_014363.6(SACS):c.2469A>G (p.Pro823=)
NM_014363.6(SACS):c.2475A>G (p.Leu825=)
NM_014363.6(SACS):c.2478C>G (p.Val826=) rs2137643652
NM_014363.6(SACS):c.247T>C (p.Leu83=) rs1470292816
NM_014363.6(SACS):c.2490T>C (p.Asp830=) rs1486997377
NM_014363.6(SACS):c.2511A>G (p.Pro837=)
NM_014363.6(SACS):c.2524G>C (p.Asp842His)
NM_014363.6(SACS):c.2532A>T (p.Val844=) rs756542648
NM_014363.6(SACS):c.2534A>G (p.Gln845Arg)
NM_014363.6(SACS):c.2538A>G (p.Lys846=) rs1869196715
NM_014363.6(SACS):c.2548T>C (p.Phe850Leu)
NM_014363.6(SACS):c.2563T>C (p.Leu855=)
NM_014363.6(SACS):c.2565A>C (p.Leu855Phe)
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
NM_014363.6(SACS):c.2574T>G (p.Ser858=)
NM_014363.6(SACS):c.2575A>G (p.Ile859Val)
NM_014363.6(SACS):c.2583T>C (p.His861=) rs2137642719
NM_014363.6(SACS):c.259+10T>G
NM_014363.6(SACS):c.259+19C>G
NM_014363.6(SACS):c.260-13C>T
NM_014363.6(SACS):c.260-18A>T
NM_014363.6(SACS):c.260-19_260-18del
NM_014363.6(SACS):c.260-7A>G
NM_014363.6(SACS):c.2613A>G (p.Pro871=) rs2137642425
NM_014363.6(SACS):c.2616A>G (p.Leu872=) rs1869187977
NM_014363.6(SACS):c.2619A>G (p.Pro873=)
NM_014363.6(SACS):c.261T>A (p.Gly87=) rs2137800346
NM_014363.6(SACS):c.2621G>A (p.Ser874Asn)
NM_014363.6(SACS):c.263G>A (p.Arg88Gln)
NM_014363.6(SACS):c.2649G>A (p.Met883Ile)
NM_014363.6(SACS):c.264A>G (p.Arg88=)
NM_014363.6(SACS):c.2652A>T (p.Pro884=) rs751143652
NM_014363.6(SACS):c.2655G>A (p.Leu885=) rs2137642005
NM_014363.6(SACS):c.2658G>A (p.Gln886=)
NM_014363.6(SACS):c.2658G>T (p.Gln886His)
NM_014363.6(SACS):c.2661A>G (p.Lys887=) rs2137641940
NM_014363.6(SACS):c.2662T>C (p.Leu888=) rs1212223678
NM_014363.6(SACS):c.2664G>A (p.Leu888=)
NM_014363.6(SACS):c.2670T>C (p.Asn890=)
NM_014363.6(SACS):c.2682G>T (p.Ser894=) rs369958174
NM_014363.6(SACS):c.2683C>T (p.Leu895=)
NM_014363.6(SACS):c.2691A>G (p.Pro897=) rs2137641711
NM_014363.6(SACS):c.2695C>A (p.His899Asn)
NM_014363.6(SACS):c.2695C>G (p.His899Asp)
NM_014363.6(SACS):c.270T>G (p.Gly90=)
NM_014363.6(SACS):c.2734G>A (p.Asp912Asn)
NM_014363.6(SACS):c.2759T>C (p.Ile920Thr)
NM_014363.6(SACS):c.2770T>C (p.Leu924=) rs1869169717
NM_014363.6(SACS):c.277A>G (p.Thr93Ala)
NM_014363.6(SACS):c.2786G>A (p.Arg929His)
NM_014363.6(SACS):c.2786G>T (p.Arg929Leu)
NM_014363.6(SACS):c.2787C>T (p.Arg929=)
NM_014363.6(SACS):c.278C>T (p.Thr93Met)
NM_014363.6(SACS):c.2799T>C (p.Ser933=)
NM_014363.6(SACS):c.2812A>G (p.Ile938Val)
NM_014363.6(SACS):c.2814T>C (p.Ile938=) rs909826115
NM_014363.6(SACS):c.2817C>G (p.Ser939=)
NM_014363.6(SACS):c.2820T>G (p.Ser940=)
NM_014363.6(SACS):c.2823T>C (p.Tyr941=) rs2137640553
NM_014363.6(SACS):c.2825C>T (p.Thr942Ile)
NM_014363.6(SACS):c.2828A>C (p.Lys943Thr)
NM_014363.6(SACS):c.2847C>T (p.Val949=) rs750136982
NM_014363.6(SACS):c.2851C>A (p.His951Asn)
NM_014363.6(SACS):c.2851C>G (p.His951Asp)
NM_014363.6(SACS):c.2854C>T (p.His952Tyr)
NM_014363.6(SACS):c.285A>G (p.Pro95=)
NM_014363.6(SACS):c.2883A>G (p.Arg961=) rs2137639984
NM_014363.6(SACS):c.288T>C (p.Leu96=) rs1593155706
NM_014363.6(SACS):c.2890A>G (p.Ile964Val)
NM_014363.6(SACS):c.2895A>G (p.Ser965=)
NM_014363.6(SACS):c.2900T>C (p.Ile967Thr)
NM_014363.6(SACS):c.2904C>T (p.Asp968=) rs149585868
NM_014363.6(SACS):c.2906G>A (p.Ser969Asn)
NM_014363.6(SACS):c.2918C>G (p.Ala973Gly)
NM_014363.6(SACS):c.2919T>C (p.Ala973=)
NM_014363.6(SACS):c.291T>G (p.Val97=)
NM_014363.6(SACS):c.2923A>G (p.Ile975Val)
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.2938A>C (p.Met980Leu)
NM_014363.6(SACS):c.2947A>G (p.Ile983Val)
NM_014363.6(SACS):c.2958A>G (p.Leu986=) rs1310471595
NM_014363.6(SACS):c.2964C>G (p.Thr988=) rs2137639334
NM_014363.6(SACS):c.2974T>C (p.Leu992=) rs2137639266
NM_014363.6(SACS):c.2982T>C (p.Leu994=)
NM_014363.6(SACS):c.29C>T (p.Pro10Leu)
NM_014363.6(SACS):c.3018T>A (p.His1006Gln)
NM_014363.6(SACS):c.3054G>A (p.Glu1018=)
NM_014363.6(SACS):c.3060A>C (p.Leu1020=) rs746764976
NM_014363.6(SACS):c.3063T>G (p.Ser1021=)
NM_014363.6(SACS):c.306C>T (p.Asp102=)
NM_014363.6(SACS):c.3082C>T (p.Pro1028Ser)
NM_014363.6(SACS):c.3083C>T (p.Pro1028Leu)
NM_014363.6(SACS):c.3108A>G (p.Pro1036=)
NM_014363.6(SACS):c.3109T>C (p.Leu1037=)
NM_014363.6(SACS):c.3120C>T (p.Ile1040=)
NM_014363.6(SACS):c.3126A>T (p.Ile1042=)
NM_014363.6(SACS):c.313A>C (p.Arg105=)
NM_014363.6(SACS):c.3144A>T (p.Val1048=) rs3751369
NM_014363.6(SACS):c.314G>A (p.Arg105Lys)
NM_014363.6(SACS):c.3156A>G (p.Glu1052=)
NM_014363.6(SACS):c.3159C>G (p.Leu1053=)
NM_014363.6(SACS):c.3165C>T (p.Asp1055=) rs1178311878
NM_014363.6(SACS):c.3181C>T (p.Leu1061=)
NM_014363.6(SACS):c.3186G>A (p.Lys1062=) rs2137637701
NM_014363.6(SACS):c.3193T>C (p.Phe1065Leu)
NM_014363.6(SACS):c.3195T>C (p.Phe1065=)
NM_014363.6(SACS):c.3197G>T (p.Cys1066Phe)
NM_014363.6(SACS):c.3200A>G (p.Asn1067Ser)
NM_014363.6(SACS):c.3210A>G (p.Gly1070=) rs2137637430
NM_014363.6(SACS):c.3213C>G (p.Thr1071=)
NM_014363.6(SACS):c.3224C>T (p.Pro1075Leu)
NM_014363.6(SACS):c.3237C>T (p.Thr1079=)
NM_014363.6(SACS):c.3240A>C (p.Ser1080=)
NM_014363.6(SACS):c.3243A>G (p.Pro1081=) rs2137637229
NM_014363.6(SACS):c.3248T>C (p.Ile1083Thr)
NM_014363.6(SACS):c.3255C>T (p.His1085=) rs1593132908
NM_014363.6(SACS):c.3258C>T (p.Ser1086=) rs1593132899
NM_014363.6(SACS):c.3270T>C (p.Ile1090=)
NM_014363.6(SACS):c.327A>G (p.Glu109=) rs1285304667
NM_014363.6(SACS):c.3283G>A (p.Glu1095Lys)
NM_014363.6(SACS):c.3294C>T (p.Leu1098=) rs1208321395
NM_014363.6(SACS):c.3304G>A (p.Asp1102Asn)
NM_014363.6(SACS):c.3306T>C (p.Asp1102=) rs759288724
NM_014363.6(SACS):c.3309T>C (p.Val1103=) rs2137636612
NM_014363.6(SACS):c.3312G>T (p.Val1104=) rs2137636594
NM_014363.6(SACS):c.3321A>C (p.Ala1107=) rs1224754869
NM_014363.6(SACS):c.3336C>T (p.Ala1112=)
NM_014363.6(SACS):c.3339A>G (p.Leu1113=) rs773184162
NM_014363.6(SACS):c.3347G>T (p.Gly1116Val)
NM_014363.6(SACS):c.3357T>C (p.Pro1119=)
NM_014363.6(SACS):c.3375G>A (p.Leu1125=)
NM_014363.6(SACS):c.3390C>T (p.Thr1130=) rs1017213900
NM_014363.6(SACS):c.3391C>G (p.Leu1131Val)
NM_014363.6(SACS):c.3396A>T (p.Leu1132Phe)
NM_014363.6(SACS):c.3401T>C (p.Val1134Ala)
NM_014363.6(SACS):c.3426G>A (p.Leu1142=)
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3429A>G (p.Gln1143=) rs1869096503
NM_014363.6(SACS):c.3443A>G (p.Lys1148Arg)
NM_014363.6(SACS):c.345+10_345+11del rs2137799720
NM_014363.6(SACS):c.345+14C>G
NM_014363.6(SACS):c.345+15G>A
NM_014363.6(SACS):c.345+15G>T
NM_014363.6(SACS):c.345+17G>A
NM_014363.6(SACS):c.345+20C>G
NM_014363.6(SACS):c.345+7C>T
NM_014363.6(SACS):c.345+8A>C rs2137799749
NM_014363.6(SACS):c.3451T>C (p.Leu1151=) rs2137635256
NM_014363.6(SACS):c.346-13del
NM_014363.6(SACS):c.346-15A>G
NM_014363.6(SACS):c.346-15_346-4del
NM_014363.6(SACS):c.346-17G>A rs1417113507
NM_014363.6(SACS):c.346-17G>T
NM_014363.6(SACS):c.346-5G>A rs80258644
NM_014363.6(SACS):c.3462A>C (p.Ile1154=) rs2137635207
NM_014363.6(SACS):c.3464A>C (p.Lys1155Thr)
NM_014363.6(SACS):c.3465A>G (p.Lys1155=)
NM_014363.6(SACS):c.3472C>T (p.Pro1158Ser)
NM_014363.6(SACS):c.3486A>G (p.Glu1162=)
NM_014363.6(SACS):c.3492T>C (p.Pro1164=)
NM_014363.6(SACS):c.3501T>C (p.Tyr1167=) rs2137634940
NM_014363.6(SACS):c.3504A>C (p.Pro1168=)
NM_014363.6(SACS):c.3504A>G (p.Pro1168=) rs201762114
NM_014363.6(SACS):c.3511T>C (p.Leu1171=)
NM_014363.6(SACS):c.3513G>A (p.Leu1171=) rs1254853262
NM_014363.6(SACS):c.3522A>G (p.Lys1174=)
NM_014363.6(SACS):c.3531C>T (p.Leu1177=) rs2137634680
NM_014363.6(SACS):c.3549A>C (p.Pro1183=)
NM_014363.6(SACS):c.3550C>A (p.Pro1184Thr)
NM_014363.6(SACS):c.3564T>C (p.Asp1188=)
NM_014363.6(SACS):c.3569G>C (p.Gly1190Ala)
NM_014363.6(SACS):c.3571C>T (p.His1191Tyr)
NM_014363.6(SACS):c.3577A>G (p.Ile1193Val)
NM_014363.6(SACS):c.357G>A (p.Gln119=) rs2137782233
NM_014363.6(SACS):c.3582C>T (p.Leu1194=)
NM_014363.6(SACS):c.3583A>G (p.Ile1195Val)
NM_014363.6(SACS):c.3591C>T (p.Ser1197=) rs141920204
NM_014363.6(SACS):c.360T>C (p.Asn120=)
NM_014363.6(SACS):c.3612T>C (p.Ser1204=) rs2137633912
NM_014363.6(SACS):c.3616C>T (p.His1206Tyr)
NM_014363.6(SACS):c.3624C>T (p.Asn1208=) rs2137633783
NM_014363.6(SACS):c.3625C>T (p.Leu1209=)
NM_014363.6(SACS):c.363A>G (p.Ala121=) rs2137782203
NM_014363.6(SACS):c.3642G>A (p.Gly1214=)
NM_014363.6(SACS):c.3645C>T (p.Ile1215=)
NM_014363.6(SACS):c.3650C>G (p.Thr1217Arg)
NM_014363.6(SACS):c.3666T>C (p.Ser1222=) rs370248518
NM_014363.6(SACS):c.3669T>C (p.Ala1223=)
NM_014363.6(SACS):c.3684T>C (p.Phe1228=)
NM_014363.6(SACS):c.3693T>C (p.Val1231=) rs1593132311
NM_014363.6(SACS):c.3699T>C (p.Asp1233=)
NM_014363.6(SACS):c.36C>G (p.Thr12=)
NM_014363.6(SACS):c.3703T>C (p.Tyr1235His)
NM_014363.6(SACS):c.3729A>C (p.Glu1243Asp)
NM_014363.6(SACS):c.372T>G (p.Ala124=) rs2137782128
NM_014363.6(SACS):c.3732C>T (p.Asp1244=) rs1369858587
NM_014363.6(SACS):c.3734A>G (p.Tyr1245Cys)
NM_014363.6(SACS):c.374G>C (p.Gly125Ala)
NM_014363.6(SACS):c.3769G>A (p.Gly1257Arg)
NM_014363.6(SACS):c.3778C>G (p.His1260Asp)
NM_014363.6(SACS):c.3778C>T (p.His1260Tyr)
NM_014363.6(SACS):c.3780T>C (p.His1260=) rs2137632626
NM_014363.6(SACS):c.3783T>C (p.Asp1261=)
NM_014363.6(SACS):c.378G>A (p.Ala126=) rs574747100
NM_014363.6(SACS):c.378G>T (p.Ala126=) rs574747100
NM_014363.6(SACS):c.3797G>A (p.Gly1266Glu)
NM_014363.6(SACS):c.3798G>T (p.Gly1266=)
NM_014363.6(SACS):c.3810T>C (p.Phe1270=)
NM_014363.6(SACS):c.3816C>G (p.Ala1272=) rs2137632367
NM_014363.6(SACS):c.3822A>G (p.Lys1274=)
NM_014363.6(SACS):c.3832G>A (p.Val1278Ile)
NM_014363.6(SACS):c.3840T>G (p.Thr1280=)
NM_014363.6(SACS):c.3849G>A (p.Lys1283=)
NM_014363.6(SACS):c.3849G>C (p.Lys1283Asn)
NM_014363.6(SACS):c.3858A>G (p.Pro1286=)
NM_014363.6(SACS):c.3864C>T (p.Ala1288=) rs2137631977
NM_014363.6(SACS):c.3873G>T (p.Val1291=)
NM_014363.6(SACS):c.3876T>C (p.Ile1292=)
NM_014363.6(SACS):c.3909T>C (p.Tyr1303=) rs765281722
NM_014363.6(SACS):c.3912G>A (p.Leu1304=) rs753675356
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.3930C>A (p.Thr1310=) rs1593132012
NM_014363.6(SACS):c.3948A>G (p.Gln1316=)
NM_014363.6(SACS):c.3949C>T (p.Leu1317=)
NM_014363.6(SACS):c.394T>C (p.Leu132=) rs553107347
NM_014363.6(SACS):c.3963T>C (p.Cys1321=)
NM_014363.6(SACS):c.3970A>G (p.Ile1324Val)
NM_014363.6(SACS):c.397T>C (p.Tyr133His)
NM_014363.6(SACS):c.3991C>A (p.His1331Asn)
NM_014363.6(SACS):c.399T>C (p.Tyr133=) rs755837406
NM_014363.6(SACS):c.39G>C (p.Val13=)
NM_014363.6(SACS):c.4003G>A (p.Val1335Ile)
NM_014363.6(SACS):c.4011G>A (p.Gln1337=)
NM_014363.6(SACS):c.4025A>G (p.Lys1342Arg)
NM_014363.6(SACS):c.402T>C (p.Asp134=) rs1870988230
NM_014363.6(SACS):c.4036G>C (p.Asp1346His) rs753529923
NM_014363.6(SACS):c.4038T>C (p.Asp1346=) rs2137630805
NM_014363.6(SACS):c.4069C>A (p.His1357Asn)
NM_014363.6(SACS):c.4098G>T (p.Leu1366=)
NM_014363.6(SACS):c.4107T>C (p.Asn1369=) rs2137630300
NM_014363.6(SACS):c.4113T>A (p.Ile1371=) rs1395418477
NM_014363.6(SACS):c.411A>G (p.Gln137=)
NM_014363.6(SACS):c.4143A>T (p.Ile1381=) rs2137630038
NM_014363.6(SACS):c.4145A>G (p.His1382Arg) rs550057119
NM_014363.6(SACS):c.4154A>G (p.Lys1385Arg)
NM_014363.6(SACS):c.4161T>C (p.Pro1387=) rs2137629827
NM_014363.6(SACS):c.4161T>G (p.Pro1387=) rs2137629827
NM_014363.6(SACS):c.416G>A (p.Gly139Glu)
NM_014363.6(SACS):c.4173C>A (p.Ile1391=)
NM_014363.6(SACS):c.4186C>A (p.His1396Asn)
NM_014363.6(SACS):c.4189G>A (p.Glu1397Lys)
NM_014363.6(SACS):c.4206C>T (p.Asp1402=)
NM_014363.6(SACS):c.4209T>A (p.Ile1403=) rs1869011953
NM_014363.6(SACS):c.420A>C (p.Thr140=)
NM_014363.6(SACS):c.4215T>C (p.Val1405=) rs1869011481
NM_014363.6(SACS):c.4221C>T (p.Asp1407=)
NM_014363.6(SACS):c.423G>A (p.Glu141=)
NM_014363.6(SACS):c.4248G>A (p.Val1416=)
NM_014363.6(SACS):c.4251A>G (p.Glu1417=)
NM_014363.6(SACS):c.4261T>C (p.Leu1421=) rs2137629081
NM_014363.6(SACS):c.426T>C (p.Thr142=)
NM_014363.6(SACS):c.426T>G (p.Thr142=) rs1168227480
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.4293A>G (p.Ala1431=) rs1435062134
NM_014363.6(SACS):c.42C>G (p.Leu14=) rs2137841455
NM_014363.6(SACS):c.42C>T (p.Leu14=) rs2137841455
NM_014363.6(SACS):c.4300C>T (p.Leu1434=)
NM_014363.6(SACS):c.4311A>G (p.Pro1437=)
NM_014363.6(SACS):c.4314C>T (p.Cys1438=) rs2137628638
NM_014363.6(SACS):c.4341A>G (p.Glu1447=)
NM_014363.6(SACS):c.4354G>A (p.Glu1452Lys)
NM_014363.6(SACS):c.4356G>A (p.Glu1452=) rs2137628388
NM_014363.6(SACS):c.4359G>A (p.Gln1453=)
NM_014363.6(SACS):c.435A>G (p.Ser145=) rs1870983913
NM_014363.6(SACS):c.4377A>C (p.Pro1459=)
NM_014363.6(SACS):c.4383T>C (p.Thr1461=) rs2137628150
NM_014363.6(SACS):c.4413C>T (p.Tyr1471=) rs2137627934
NM_014363.6(SACS):c.4414C>A (p.Pro1472Thr)
NM_014363.6(SACS):c.442A>G (p.Met148Val)
NM_014363.6(SACS):c.4434T>C (p.Phe1478=) rs545103369
NM_014363.6(SACS):c.4437A>G (p.Lys1479=)
NM_014363.6(SACS):c.4440A>G (p.Glu1480=) rs1477679960
NM_014363.6(SACS):c.4441C>T (p.Leu1481=)
NM_014363.6(SACS):c.4443A>G (p.Leu1481=)
NM_014363.6(SACS):c.4465A>C (p.Asn1489His)
NM_014363.6(SACS):c.4465A>G (p.Asn1489Asp)
NM_014363.6(SACS):c.4473A>G (p.Thr1491=)
NM_014363.6(SACS):c.4479C>T (p.Cys1493=) rs1208272610
NM_014363.6(SACS):c.4482T>C (p.Ser1494=)
NM_014363.6(SACS):c.4488G>A (p.Leu1496=) rs770743092
NM_014363.6(SACS):c.4489A>G (p.Ile1497Val)
NM_014363.6(SACS):c.4491T>G (p.Ile1497Met)
NM_014363.6(SACS):c.4495A>T (p.Met1499Leu)
NM_014363.6(SACS):c.4501A>C (p.Arg1501=)
NM_014363.6(SACS):c.4507A>G (p.Met1503Val)
NM_014363.6(SACS):c.450A>G (p.Pro150=)
NM_014363.6(SACS):c.4536A>G (p.Pro1512=) rs1458404801
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
NM_014363.6(SACS):c.4539G>A (p.Gly1513=) rs2137626779
NM_014363.6(SACS):c.453T>C (p.Tyr151=)
NM_014363.6(SACS):c.457+14A>G
NM_014363.6(SACS):c.457+17A>G
NM_014363.6(SACS):c.457+7A>G
NM_014363.6(SACS):c.457+9C>A rs2137781156
NM_014363.6(SACS):c.4578C>T (p.Asn1526=) rs2137626534
NM_014363.6(SACS):c.458-15C>T
NM_014363.6(SACS):c.458-16G>A
NM_014363.6(SACS):c.458-20C>T
NM_014363.6(SACS):c.458-5C>T rs2137743552
NM_014363.6(SACS):c.458-6A>G rs2137743565
NM_014363.6(SACS):c.458-8A>G rs2137743585
NM_014363.6(SACS):c.4583C>G (p.Ser1528Cys)
NM_014363.6(SACS):c.4592C>T (p.Ser1531Leu)
NM_014363.6(SACS):c.459G>T (p.Gly153=)
NM_014363.6(SACS):c.45C>G (p.Pro15=) rs1231894975
NM_014363.6(SACS):c.45C>T (p.Pro15=) rs1231894975
NM_014363.6(SACS):c.4605T>G (p.Phe1535Leu)
NM_014363.6(SACS):c.4606G>A (p.Val1536Met)
NM_014363.6(SACS):c.4614A>T (p.Ile1538=) rs2137626085
NM_014363.6(SACS):c.4621T>C (p.Leu1541=)
NM_014363.6(SACS):c.4632T>C (p.Ser1544=) rs746782287
NM_014363.6(SACS):c.4652A>G (p.Asp1551Gly)
NM_014363.6(SACS):c.4656A>G (p.Lys1552=)
NM_014363.6(SACS):c.4668T>C (p.Phe1556=) rs2137625592
NM_014363.6(SACS):c.4671T>C (p.Gly1557=)
NM_014363.6(SACS):c.4674T>C (p.Leu1558=)
NM_014363.6(SACS):c.4686T>G (p.Ser1562=)
NM_014363.6(SACS):c.4695T>C (p.His1565=)
NM_014363.6(SACS):c.4698C>A (p.Ile1566=)
NM_014363.6(SACS):c.4698C>T (p.Ile1566=) rs1868956874
NM_014363.6(SACS):c.4707T>C (p.Ile1569=) rs1437241759
NM_014363.6(SACS):c.4711A>T (p.Ile1571Phe)
NM_014363.6(SACS):c.4755A>C (p.Ile1585=)
NM_014363.6(SACS):c.4770A>G (p.Lys1590=)
NM_014363.6(SACS):c.477C>T (p.Tyr159=) rs1870531490
NM_014363.6(SACS):c.4797G>A (p.Gly1599=)
NM_014363.6(SACS):c.4797G>T (p.Gly1599=)
NM_014363.6(SACS):c.4807A>G (p.Asn1603Asp)
NM_014363.6(SACS):c.4821A>G (p.Gln1607=) rs2137624161
NM_014363.6(SACS):c.4828A>C (p.Arg1610=) rs2137624139
NM_014363.6(SACS):c.4839A>G (p.Lys1613=) rs1450484419
NM_014363.6(SACS):c.4860A>G (p.Pro1620=) rs747465682
NM_014363.6(SACS):c.4864A>G (p.Ile1622Val)
NM_014363.6(SACS):c.4869T>C (p.Asp1623=)
NM_014363.6(SACS):c.486G>T (p.Ala162=) rs775081172
NM_014363.6(SACS):c.4870G>T (p.Val1624Leu)
NM_014363.6(SACS):c.4872A>G (p.Val1624=) rs758775714
NM_014363.6(SACS):c.4875T>C (p.Phe1625=)
NM_014363.6(SACS):c.4881T>C (p.Cys1627=)
NM_014363.6(SACS):c.4885T>C (p.Leu1629=)
NM_014363.6(SACS):c.4890T>C (p.Pro1630=)
NM_014363.6(SACS):c.4890T>G (p.Pro1630=)
NM_014363.6(SACS):c.4893G>C (p.Leu1631Phe)
NM_014363.6(SACS):c.4894A>C (p.Thr1632Pro)
NM_014363.6(SACS):c.4904C>T (p.Ala1635Val)
NM_014363.6(SACS):c.4917T>C (p.Tyr1639=)
NM_014363.6(SACS):c.4920T>C (p.Asn1640=) rs1868928685
NM_014363.6(SACS):c.4926C>G (p.Thr1642=) rs1183192870
NM_014363.6(SACS):c.4926C>T (p.Thr1642=) rs1183192870
NM_014363.6(SACS):c.4932C>T (p.Phe1644=)
NM_014363.6(SACS):c.4938G>T (p.Leu1646=)
NM_014363.6(SACS):c.4953A>G (p.Gln1651=)
NM_014363.6(SACS):c.495C>T (p.Thr165=) rs2137743071
NM_014363.6(SACS):c.4971T>C (p.Ser1657=) rs1593130707
NM_014363.6(SACS):c.4977T>C (p.Val1659=)
NM_014363.6(SACS):c.4982G>A (p.Ser1661Asn)
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.4986G>C (p.Thr1662=)
NM_014363.6(SACS):c.498A>G (p.Pro166=) rs1870528398
NM_014363.6(SACS):c.4992C>T (p.Tyr1664=) rs1158968797
NM_014363.6(SACS):c.5004T>C (p.Asp1668=)
NM_014363.6(SACS):c.5013T>A (p.Ser1671=)
NM_014363.6(SACS):c.5028T>C (p.Phe1676=)
NM_014363.6(SACS):c.5033T>A (p.Leu1678His)
NM_014363.6(SACS):c.5034C>T (p.Leu1678=)
NM_014363.6(SACS):c.5040A>G (p.Gly1680=)
NM_014363.6(SACS):c.5043C>T (p.His1681=) rs1868915593
NM_014363.6(SACS):c.5070A>G (p.Val1690=) rs773360433
NM_014363.6(SACS):c.5077A>G (p.Met1693Val)
NM_014363.6(SACS):c.5091C>T (p.Tyr1697=) rs1868910034
NM_014363.6(SACS):c.5092T>C (p.Leu1698=)
NM_014363.6(SACS):c.5099T>C (p.Ile1700Thr)
NM_014363.6(SACS):c.5103G>A (p.Glu1701=) rs2137621687
NM_014363.6(SACS):c.5104G>A (p.Glu1702Lys)
NM_014363.6(SACS):c.511G>A (p.Gly171Ser)
NM_014363.6(SACS):c.5132C>T (p.Thr1711Ile)
NM_014363.6(SACS):c.5151A>G (p.Lys1717=)
NM_014363.6(SACS):c.5154C>T (p.Ser1718=)
NM_014363.6(SACS):c.5170T>C (p.Leu1724=)
NM_014363.6(SACS):c.5173A>G (p.Asn1725Asp)
NM_014363.6(SACS):c.5175C>A (p.Asn1725Lys)
NM_014363.6(SACS):c.5175C>T (p.Asn1725=)
NM_014363.6(SACS):c.5178A>C (p.Thr1726=)
NM_014363.6(SACS):c.5179C>T (p.Pro1727Ser)
NM_014363.6(SACS):c.5181T>C (p.Pro1727=)
NM_014363.6(SACS):c.5184C>T (p.Val1728=) rs766460230
NM_014363.6(SACS):c.5185T>C (p.Leu1729=)
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
NM_014363.6(SACS):c.519A>G (p.Gln173=)
NM_014363.6(SACS):c.5203G>A (p.Ala1735Thr)
NM_014363.6(SACS):c.5226C>T (p.Cys1742=) rs770106641
NM_014363.6(SACS):c.5229C>T (p.Ser1743=)
NM_014363.6(SACS):c.5239A>C (p.Lys1747Gln)
NM_014363.6(SACS):c.5241A>G (p.Lys1747=) rs2137620327
NM_014363.6(SACS):c.5244G>A (p.Lys1748=)
NM_014363.6(SACS):c.5262A>G (p.Pro1754=)
NM_014363.6(SACS):c.5263A>G (p.Lys1755Glu)
NM_014363.6(SACS):c.5277T>C (p.Ile1759=) rs2137620095
NM_014363.6(SACS):c.5302C>T (p.His1768Tyr) rs758381112
NM_014363.6(SACS):c.5306A>G (p.His1769Arg)
NM_014363.6(SACS):c.5308G>A (p.Val1770Met)
NM_014363.6(SACS):c.5328T>C (p.Asp1776=)
NM_014363.6(SACS):c.5336C>T (p.Ser1779Leu)
NM_014363.6(SACS):c.5340A>T (p.Pro1780=) rs1195719474
NM_014363.6(SACS):c.5355A>T (p.Pro1785=)
NM_014363.6(SACS):c.5357A>G (p.Asp1786Gly)
NM_014363.6(SACS):c.535A>G (p.Arg179Gly)
NM_014363.6(SACS):c.5364C>T (p.Asp1788=) rs770178890
NM_014363.6(SACS):c.5374C>T (p.Leu1792Phe)
NM_014363.6(SACS):c.5376C>A (p.Leu1792=)
NM_014363.6(SACS):c.5388T>G (p.Ala1796=) rs770598686
NM_014363.6(SACS):c.540A>G (p.Lys180=) rs999767217
NM_014363.6(SACS):c.5421G>A (p.Glu1807=) rs2137619035
NM_014363.6(SACS):c.5424G>A (p.Leu1808=)
NM_014363.6(SACS):c.543G>A (p.Lys181=)
NM_014363.6(SACS):c.5443T>C (p.Cys1815Arg)
NM_014363.6(SACS):c.5451G>A (p.Thr1817=) rs1255397727
NM_014363.6(SACS):c.5457T>G (p.Leu1819=) rs2137618681
NM_014363.6(SACS):c.5460G>C (p.Leu1820=)
NM_014363.6(SACS):c.5462G>A (p.Cys1821Tyr)
NM_014363.6(SACS):c.5478A>G (p.Thr1826=)
NM_014363.6(SACS):c.5484G>A (p.Glu1828=)
NM_014363.6(SACS):c.5488C>T (p.Leu1830=) rs1868863069
NM_014363.6(SACS):c.5493G>A (p.Lys1831=) rs1593129949
NM_014363.6(SACS):c.5496T>C (p.Phe1832=)
NM_014363.6(SACS):c.5499C>T (p.Ser1833=)
NM_014363.6(SACS):c.54G>C (p.Val18=) rs1390875446
NM_014363.6(SACS):c.5505T>C (p.Ser1835=) rs1868861379
NM_014363.6(SACS):c.5510G>A (p.Ser1837Asn)
NM_014363.6(SACS):c.5518A>C (p.Arg1840=)
NM_014363.6(SACS):c.5522T>C (p.Leu1841Pro)
NM_014363.6(SACS):c.5527C>T (p.Leu1843=) rs2137618089
NM_014363.6(SACS):c.5529G>A (p.Leu1843=)
NM_014363.6(SACS):c.5541G>A (p.Gly1847=)
NM_014363.6(SACS):c.554T>G (p.Leu185Arg)
NM_014363.6(SACS):c.5550A>T (p.Gly1850=)
NM_014363.6(SACS):c.5556G>A (p.Gln1852=)
NM_014363.6(SACS):c.5580G>A (p.Lys1860=)
NM_014363.6(SACS):c.5587G>A (p.Val1863Met)
NM_014363.6(SACS):c.5589G>A (p.Val1863=)
NM_014363.6(SACS):c.5598C>T (p.His1866=) rs2137617508
NM_014363.6(SACS):c.5599A>G (p.Ile1867Val)
NM_014363.6(SACS):c.5608G>A (p.Val1870Met)
NM_014363.6(SACS):c.5636A>G (p.Lys1879Arg)
NM_014363.6(SACS):c.5643C>G (p.Gly1881=)
NM_014363.6(SACS):c.5646G>A (p.Leu1882=) rs927826338
NM_014363.6(SACS):c.5649A>G (p.Pro1883=)
NM_014363.6(SACS):c.5652T>G (p.Val1884=) rs2137617009
NM_014363.6(SACS):c.5670T>C (p.Phe1890=) rs2137616884
NM_014363.6(SACS):c.5679A>C (p.Thr1893=)
NM_014363.6(SACS):c.5679A>G (p.Thr1893=) rs1414521853
NM_014363.6(SACS):c.5682A>G (p.Ser1894=)
NM_014363.6(SACS):c.5703A>G (p.Lys1901=)
NM_014363.6(SACS):c.5711C>A (p.Thr1904Lys)
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5712A>C (p.Thr1904=)
NM_014363.6(SACS):c.5727T>C (p.Asn1909=)
NM_014363.6(SACS):c.5730C>T (p.Thr1910=) rs2137616328
NM_014363.6(SACS):c.5733G>T (p.Thr1911=)
NM_014363.6(SACS):c.5736C>T (p.Phe1912=) rs760723369
NM_014363.6(SACS):c.573A>C (p.Gly191=)
NM_014363.6(SACS):c.5745T>C (p.His1915=) rs750789221
NM_014363.6(SACS):c.5754G>A (p.Val1918=) rs1355702259
NM_014363.6(SACS):c.5766A>G (p.Leu1922=) rs1443404509
NM_014363.6(SACS):c.576T>C (p.Ile192=) rs1314146678
NM_014363.6(SACS):c.5775G>A (p.Leu1925=)
NM_014363.6(SACS):c.5785C>A (p.Arg1929=) rs141019064
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp) rs141019064
NM_014363.6(SACS):c.5788G>A (p.Asp1930Asn)
NM_014363.6(SACS):c.5794G>A (p.Ala1932Thr)
NM_014363.6(SACS):c.579G>T (p.Gly193=)
NM_014363.6(SACS):c.57C>G (p.Gly19=)
NM_014363.6(SACS):c.57C>T (p.Gly19=) rs1394349795
NM_014363.6(SACS):c.5802T>C (p.Ser1934=)
NM_014363.6(SACS):c.5850T>C (p.Asp1950=)
NM_014363.6(SACS):c.5857C>T (p.His1953Tyr)
NM_014363.6(SACS):c.5863G>T (p.Asp1955Tyr)
NM_014363.6(SACS):c.5864A>G (p.Asp1955Gly)
NM_014363.6(SACS):c.5886A>G (p.Gly1962=) rs1593129426
NM_014363.6(SACS):c.5886A>T (p.Gly1962=)
NM_014363.6(SACS):c.5892T>C (p.Tyr1964=) rs2137614926
NM_014363.6(SACS):c.5896G>A (p.Asp1966Asn)
NM_014363.6(SACS):c.5900T>C (p.Ile1967Thr)
NM_014363.6(SACS):c.5919A>G (p.Lys1973=)
NM_014363.6(SACS):c.5937C>T (p.Phe1979=)
NM_014363.6(SACS):c.5944G>A (p.Gly1982Arg)
NM_014363.6(SACS):c.5958T>G (p.Val1986=)
NM_014363.6(SACS):c.5961C>T (p.Ser1987=)
NM_014363.6(SACS):c.5974A>C (p.Arg1992=)
NM_014363.6(SACS):c.597T>C (p.His199=)
NM_014363.6(SACS):c.5989T>A (p.Ser1997Thr)
NM_014363.6(SACS):c.5991T>C (p.Ser1997=)
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.604+12_604+13insATTAGATCCTCCCGAATCAACCCTGACCCCTCTCCTTCATAAATTATTCAGCTTCCTACACTATTAAAGTTTACCACAACCACCACCCCATCATACTCTTTCACCCACAGCACCAATCCTACCTCCATCGCTAACCCCACTAAAACACTCACCAAGACCTCAACCCCTGACC
NM_014363.6(SACS):c.604+19C>T
NM_014363.6(SACS):c.604+20G>A
NM_014363.6(SACS):c.604+9T>G
NM_014363.6(SACS):c.6046C>G (p.Leu2016Val)
NM_014363.6(SACS):c.605-15A>C
NM_014363.6(SACS):c.605-16A>G
NM_014363.6(SACS):c.605-18T>C
NM_014363.6(SACS):c.605-7T>C rs1486783723
NM_014363.6(SACS):c.605-7T>G
NM_014363.6(SACS):c.6057T>C (p.Thr2019=) rs1170458264
NM_014363.6(SACS):c.6060G>T (p.Gly2020=)
NM_014363.6(SACS):c.6063C>T (p.Ser2021=)
NM_014363.6(SACS):c.6092C>T (p.Ser2031Phe)
NM_014363.6(SACS):c.6105A>G (p.Leu2035=)
NM_014363.6(SACS):c.6108A>T (p.Gly2036=)
NM_014363.6(SACS):c.6136C>T (p.Leu2046=) rs2137612302
NM_014363.6(SACS):c.6138A>G (p.Leu2046=)
NM_014363.6(SACS):c.6143A>G (p.Glu2048Gly)
NM_014363.6(SACS):c.6147C>T (p.Asn2049=)
NM_014363.6(SACS):c.6150A>G (p.Thr2050=) rs1370520115
NM_014363.6(SACS):c.6156A>T (p.Ser2052=) rs1868777158
NM_014363.6(SACS):c.6162A>G (p.Lys2054=)
NM_014363.6(SACS):c.6163C>A (p.Gln2055Lys)
NM_014363.6(SACS):c.6164A>G (p.Gln2055Arg)
NM_014363.6(SACS):c.6165G>A (p.Gln2055=) rs748525192
NM_014363.6(SACS):c.6174T>C (p.Ser2058=)
NM_014363.6(SACS):c.6176A>T (p.Glu2059Val)
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
NM_014363.6(SACS):c.6180G>C (p.Val2060=)
NM_014363.6(SACS):c.6189A>G (p.Pro2063=)
NM_014363.6(SACS):c.6204T>A (p.Ile2068=)
NM_014363.6(SACS):c.621T>C (p.Phe207=)
NM_014363.6(SACS):c.6226T>G (p.Leu2076Val)
NM_014363.6(SACS):c.6237T>C (p.Phe2079=) rs1185366909
NM_014363.6(SACS):c.6241C>T (p.Leu2081=)
NM_014363.6(SACS):c.6256G>A (p.Asp2086Asn)
NM_014363.6(SACS):c.6257A>G (p.Asp2086Gly)
NM_014363.6(SACS):c.6257A>T (p.Asp2086Val)
NM_014363.6(SACS):c.6273T>A (p.Val2091=)
NM_014363.6(SACS):c.627T>C (p.Gly209=)
NM_014363.6(SACS):c.6288A>G (p.Pro2096=)
NM_014363.6(SACS):c.6330A>G (p.Pro2110=)
NM_014363.6(SACS):c.6337T>C (p.Leu2113=)
NM_014363.6(SACS):c.6342C>T (p.Ile2114=)
NM_014363.6(SACS):c.6348C>G (p.Pro2116=)
NM_014363.6(SACS):c.6363A>G (p.Ala2121=)
NM_014363.6(SACS):c.636C>T (p.Ile212=) rs749553267
NM_014363.6(SACS):c.6387G>A (p.Gly2129=) rs141341126
NM_014363.6(SACS):c.6387G>C (p.Gly2129=) rs141341126
NM_014363.6(SACS):c.6402T>A (p.Gly2134=) rs2137610043
NM_014363.6(SACS):c.6411G>A (p.Gln2137=)
NM_014363.6(SACS):c.6413A>T (p.Asp2138Val)
NM_014363.6(SACS):c.6422A>G (p.Asn2141Ser)
NM_014363.6(SACS):c.6445G>A (p.Val2149Ile)
NM_014363.6(SACS):c.6453A>G (p.Leu2151=) rs2137609654
NM_014363.6(SACS):c.645A>G (p.Leu215=)
NM_014363.6(SACS):c.6460G>A (p.Ala2154Thr)
NM_014363.6(SACS):c.6475T>C (p.Leu2159=)
NM_014363.6(SACS):c.6492A>G (p.Leu2164=) rs752050563
NM_014363.6(SACS):c.6495A>G (p.Glu2165=) rs2137609252
NM_014363.6(SACS):c.6497G>A (p.Arg2166His)
NM_014363.6(SACS):c.6498T>C (p.Arg2166=)
NM_014363.6(SACS):c.6500C>T (p.Ala2167Val)
NM_014363.6(SACS):c.6510A>G (p.Val2170=)
NM_014363.6(SACS):c.6510A>T (p.Val2170=)
NM_014363.6(SACS):c.6513T>G (p.Ala2171=)
NM_014363.6(SACS):c.6535G>A (p.Val2179Ile)
NM_014363.6(SACS):c.6546C>T (p.Cys2182=)
NM_014363.6(SACS):c.6558T>C (p.Ser2186=)
NM_014363.6(SACS):c.655C>A (p.Gln219Lys)
NM_014363.6(SACS):c.6565T>C (p.Leu2189=)
NM_014363.6(SACS):c.6579T>C (p.Asp2193=) rs746075355
NM_014363.6(SACS):c.6585A>G (p.Lys2195=) rs912390732
NM_014363.6(SACS):c.6585A>T (p.Lys2195Asn)
NM_014363.6(SACS):c.6609A>G (p.Ala2203=)
NM_014363.6(SACS):c.6629A>G (p.Tyr2210Cys)
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.6636A>C (p.Thr2212=) rs899076462
NM_014363.6(SACS):c.6637A>G (p.Ile2213Val)
NM_014363.6(SACS):c.6641G>A (p.Arg2214His)
NM_014363.6(SACS):c.6641G>T (p.Arg2214Leu)
NM_014363.6(SACS):c.6663A>G (p.Lys2221=)
NM_014363.6(SACS):c.6666A>C (p.Pro2222=)
NM_014363.6(SACS):c.666T>C (p.Phe222=)
NM_014363.6(SACS):c.6682G>T (p.Asp2228Tyr)
NM_014363.6(SACS):c.6683A>G (p.Asp2228Gly)
NM_014363.6(SACS):c.6696C>T (p.Asn2232=) rs1868695544
NM_014363.6(SACS):c.6702T>C (p.Phe2234=) rs774487714
NM_014363.6(SACS):c.6705G>A (p.Lys2235=)
NM_014363.6(SACS):c.6714C>T (p.Thr2238=) rs2137607327
NM_014363.6(SACS):c.6723A>G (p.Ala2241=)
NM_014363.6(SACS):c.6732C>T (p.Asp2244=) rs1267521367
NM_014363.6(SACS):c.6741A>C (p.Thr2247=) rs2137607122
NM_014363.6(SACS):c.6747A>G (p.Glu2249=)
NM_014363.6(SACS):c.6758T>C (p.Ile2253Thr)
NM_014363.6(SACS):c.6759A>C (p.Ile2253=) rs1312837697
NM_014363.6(SACS):c.6769T>C (p.Leu2257=) rs2137606843
NM_014363.6(SACS):c.6789A>G (p.Glu2263=)
NM_014363.6(SACS):c.6792T>C (p.Asn2264=)
NM_014363.6(SACS):c.6796C>A (p.His2266Asn)
NM_014363.6(SACS):c.6801T>C (p.Ser2267=)
NM_014363.6(SACS):c.6813T>G (p.Cys2271Trp)
NM_014363.6(SACS):c.6816T>G (p.Gly2272=)
NM_014363.6(SACS):c.6825A>C (p.Ser2275=) rs368891664
NM_014363.6(SACS):c.6840G>T (p.Glu2280Asp)
NM_014363.6(SACS):c.6849A>T (p.Gly2283=) rs755452979
NM_014363.6(SACS):c.6855C>G (p.Leu2285=) rs2137605914
NM_014363.6(SACS):c.6858G>A (p.Lys2286=) rs1868677264
NM_014363.6(SACS):c.6860A>G (p.Lys2287Arg)
NM_014363.6(SACS):c.6866C>T (p.Thr2289Ile)
NM_014363.6(SACS):c.687A>G (p.Gln229=)
NM_014363.6(SACS):c.6891G>A (p.Leu2297=) rs775553857
NM_014363.6(SACS):c.6897A>G (p.Glu2299=) rs2137605427
NM_014363.6(SACS):c.6900A>G (p.Val2300=)
NM_014363.6(SACS):c.6907T>A (p.Ser2303Thr)
NM_014363.6(SACS):c.690T>C (p.Cys230=)
NM_014363.6(SACS):c.6910G>A (p.Val2304Ile)
NM_014363.6(SACS):c.6916G>C (p.Asp2306His)
NM_014363.6(SACS):c.6927A>G (p.Thr2309=)
NM_014363.6(SACS):c.6928C>T (p.Leu2310=) rs1868666524
NM_014363.6(SACS):c.6930G>A (p.Leu2310=) rs780625472
NM_014363.6(SACS):c.6930G>C (p.Leu2310=)
NM_014363.6(SACS):c.6933C>T (p.Tyr2311=)
NM_014363.6(SACS):c.6942T>C (p.Asn2314=)
NM_014363.6(SACS):c.6951T>C (p.Asn2317=)
NM_014363.6(SACS):c.6953C>T (p.Ala2318Val)
NM_014363.6(SACS):c.6954T>C (p.Ala2318=) rs1481828108
NM_014363.6(SACS):c.6954T>G (p.Ala2318=)
NM_014363.6(SACS):c.696T>C (p.Asn232=) rs2031640
NM_014363.6(SACS):c.6970C>A (p.His2324Asn)
NM_014363.6(SACS):c.6978C>G (p.Ala2326=) rs2137604768
NM_014363.6(SACS):c.6994A>G (p.Ile2332Val)
NM_014363.6(SACS):c.6996C>T (p.Ile2332=) rs2137604621
NM_014363.6(SACS):c.6999T>C (p.Thr2333=) rs1414703183
NM_014363.6(SACS):c.7002G>A (p.Lys2334=)
NM_014363.6(SACS):c.7004T>C (p.Met2335Thr)
NM_014363.6(SACS):c.7016A>G (p.Asp2339Gly)
NM_014363.6(SACS):c.7020G>A (p.Lys2340=)
NM_014363.6(SACS):c.7023A>G (p.Leu2341=) rs2137604397
NM_014363.6(SACS):c.7026A>G (p.Lys2342=)
NM_014363.6(SACS):c.7029C>A (p.Pro2343=)
NM_014363.6(SACS):c.7032T>C (p.Phe2344=) rs746413291
NM_014363.6(SACS):c.7038C>T (p.Phe2346=)
NM_014363.6(SACS):c.7053T>C (p.Asn2351=)
NM_014363.6(SACS):c.7056A>C (p.Ala2352=) rs1199675216
NM_014363.6(SACS):c.7056A>T (p.Ala2352=) rs1199675216
NM_014363.6(SACS):c.7062T>G (p.Val2354=) rs1868650796
NM_014363.6(SACS):c.7068A>G (p.Ser2356=) rs1868650056
NM_014363.6(SACS):c.7070A>G (p.Glu2357Gly)
NM_014363.6(SACS):c.7107A>C (p.Pro2369=)
NM_014363.6(SACS):c.7110C>T (p.Tyr2370=) rs1555251553
NM_014363.6(SACS):c.7113T>G (p.Leu2371=)
NM_014363.6(SACS):c.7125T>C (p.Pro2375=) rs1330112578
NM_014363.6(SACS):c.7128T>C (p.Asn2376=)
NM_014363.6(SACS):c.7131G>A (p.Lys2377=) rs1868643917
NM_014363.6(SACS):c.7134T>C (p.Tyr2378=) rs762475019
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
NM_014363.6(SACS):c.7167G>T (p.Val2389=)
NM_014363.6(SACS):c.7175G>A (p.Arg2392Lys)
NM_014363.6(SACS):c.7178A>G (p.Gln2393Arg)
NM_014363.6(SACS):c.7185C>G (p.Cys2395Trp)
NM_014363.6(SACS):c.7185C>T (p.Cys2395=)
NM_014363.6(SACS):c.7186A>G (p.Thr2396Ala)
NM_014363.6(SACS):c.718A>C (p.Ile240Leu)
NM_014363.6(SACS):c.7204C>G (p.Leu2402Val)
NM_014363.6(SACS):c.7209T>G (p.Val2403=)
NM_014363.6(SACS):c.720T>C (p.Ile240=)
NM_014363.6(SACS):c.7217C>A (p.Ser2406Tyr)
NM_014363.6(SACS):c.7219A>G (p.Ile2407Val)
NM_014363.6(SACS):c.7221T>G (p.Ile2407Met)
NM_014363.6(SACS):c.7233A>G (p.Arg2411=)
NM_014363.6(SACS):c.7242G>A (p.Lys2414=) rs185902810
NM_014363.6(SACS):c.726A>G (p.Glu242=) rs2137728688
NM_014363.6(SACS):c.7272C>T (p.Cys2424=) rs1868626730
NM_014363.6(SACS):c.7274G>A (p.Arg2425Gln)
NM_014363.6(SACS):c.7277G>A (p.Arg2426Gln)
NM_014363.6(SACS):c.727C>G (p.Leu243Val)
NM_014363.6(SACS):c.7284C>T (p.Ile2428=)
NM_014363.6(SACS):c.7296A>T (p.Ile2432=)
NM_014363.6(SACS):c.729T>G (p.Leu243=)
NM_014363.6(SACS):c.72G>A (p.Ala24=) rs1871677310
NM_014363.6(SACS):c.7302T>C (p.Ser2434=)
NM_014363.6(SACS):c.7304T>C (p.Leu2435Pro)
NM_014363.6(SACS):c.7306A>G (p.Ile2436Val) rs567650774
NM_014363.6(SACS):c.7326A>G (p.Glu2442=) rs2137601476
NM_014363.6(SACS):c.7338A>G (p.Lys2446=) rs1868618237
NM_014363.6(SACS):c.7346G>A (p.Gly2449Asp)
NM_014363.6(SACS):c.7350G>A (p.Lys2450=)
NM_014363.6(SACS):c.7351A>G (p.Ile2451Val)
NM_014363.6(SACS):c.7351A>T (p.Ile2451Leu)
NM_014363.6(SACS):c.7353A>G (p.Ile2451Met)
NM_014363.6(SACS):c.7362A>G (p.Pro2454=) rs2137601099
NM_014363.6(SACS):c.7368T>G (p.Thr2456=) rs2137601024
NM_014363.6(SACS):c.7376T>G (p.Met2459Arg)
NM_014363.6(SACS):c.7380T>G (p.Leu2460=)
NM_014363.6(SACS):c.7383C>A (p.Leu2461=)
NM_014363.6(SACS):c.7389T>C (p.Ala2463=)
NM_014363.6(SACS):c.7401C>T (p.Cys2467=)
NM_014363.6(SACS):c.7404C>T (p.Tyr2468=) rs2137600713
NM_014363.6(SACS):c.7426G>A (p.Val2476Ile)
NM_014363.6(SACS):c.744A>C (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.744A>G (p.Ala248=) rs1448438600
NM_014363.6(SACS):c.7455T>C (p.His2485=)
NM_014363.6(SACS):c.7458T>A (p.Ala2486=)
NM_014363.6(SACS):c.7464A>C (p.Ile2488=) rs1593127405
NM_014363.6(SACS):c.7476A>G (p.Val2492=) rs1593127376
NM_014363.6(SACS):c.747A>G (p.Pro249=) rs1377168303
NM_014363.6(SACS):c.7482A>T (p.Val2494=) rs2137600030
NM_014363.6(SACS):c.7491A>C (p.Gly2497=)
NM_014363.6(SACS):c.7506A>G (p.Arg2502=)
NM_014363.6(SACS):c.7516T>C (p.Leu2506=) rs2137599675
NM_014363.6(SACS):c.751G>A (p.Val251Ile) rs776176699
NM_014363.6(SACS):c.7539C>G (p.Val2513=) rs572529567
NM_014363.6(SACS):c.7548A>G (p.Thr2516=) rs2137599204
NM_014363.6(SACS):c.7582T>C (p.Leu2528=)
NM_014363.6(SACS):c.7587C>G (p.Thr2529=)
NM_014363.6(SACS):c.7587C>T (p.Thr2529=)
NM_014363.6(SACS):c.7601G>A (p.Ser2534Asn) rs750491874
NM_014363.6(SACS):c.7602C>T (p.Ser2534=)
NM_014363.6(SACS):c.7611T>C (p.Asn2537=)
NM_014363.6(SACS):c.7614A>G (p.Ala2538=) rs142697365
NM_014363.6(SACS):c.7617T>C (p.Tyr2539=) rs2137598731
NM_014363.6(SACS):c.7620T>A (p.Pro2540=)
NM_014363.6(SACS):c.7636T>C (p.Leu2546=)
NM_014363.6(SACS):c.7638G>A (p.Leu2546=)
NM_014363.6(SACS):c.7662T>C (p.Asp2554=)
NM_014363.6(SACS):c.766A>G (p.Ser256Gly)
NM_014363.6(SACS):c.7679A>G (p.Glu2560Gly)
NM_014363.6(SACS):c.7686T>C (p.Cys2562=)
NM_014363.6(SACS):c.7686T>G (p.Cys2562Trp)
NM_014363.6(SACS):c.7687T>G (p.Phe2563Val)
NM_014363.6(SACS):c.7698T>C (p.Asp2566=) rs2137598118
NM_014363.6(SACS):c.76C>T (p.Leu26=) rs2137841018
NM_014363.6(SACS):c.7704A>G (p.Arg2568=) rs2137598061
NM_014363.6(SACS):c.7710T>C (p.His2570=)
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.771C>T (p.Thr257=) rs2137728294
NM_014363.6(SACS):c.7761A>G (p.Ala2587=) rs2137597595
NM_014363.6(SACS):c.777A>G (p.Glu259=)
NM_014363.6(SACS):c.7785A>G (p.Pro2595=) rs2137597409
NM_014363.6(SACS):c.7794A>G (p.Glu2598=)
NM_014363.6(SACS):c.780A>G (p.Thr260=)
NM_014363.6(SACS):c.7812T>C (p.Ile2604=) rs1593127031
NM_014363.6(SACS):c.7830C>G (p.Gly2610=)
NM_014363.6(SACS):c.7839G>A (p.Glu2613=) rs2137596950
NM_014363.6(SACS):c.784A>G (p.Ile262Val)
NM_014363.6(SACS):c.7893T>C (p.His2631=)
NM_014363.6(SACS):c.7902C>T (p.Asp2634=) rs2137596562
NM_014363.6(SACS):c.7911T>G (p.Ser2637=) rs369521544
NM_014363.6(SACS):c.7920T>C (p.Ser2640=) rs2137596372
NM_014363.6(SACS):c.7925A>G (p.Asn2642Ser)
NM_014363.6(SACS):c.7932C>T (p.Ile2644=) rs2137596232
NM_014363.6(SACS):c.7933C>T (p.Leu2645=)
NM_014363.6(SACS):c.7950T>C (p.Pro2650=) rs2137596152
NM_014363.6(SACS):c.7964C>T (p.Ala2655Val)
NM_014363.6(SACS):c.7965A>G (p.Ala2655=)
NM_014363.6(SACS):c.7977A>C (p.Thr2659=) rs2137595797
NM_014363.6(SACS):c.7989C>G (p.Pro2663=) rs766086455
NM_014363.6(SACS):c.7992A>G (p.Gly2664=) rs755531339
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
NM_014363.6(SACS):c.8004A>G (p.Arg2668=) rs2137595571
NM_014363.6(SACS):c.8013T>C (p.Asp2671=) rs2137595428
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu) rs34928783
NM_014363.6(SACS):c.8028A>G (p.Thr2676=)
NM_014363.6(SACS):c.8034C>T (p.Phe2678=)
NM_014363.6(SACS):c.8044C>T (p.Leu2682=) rs1340571633
NM_014363.6(SACS):c.8047G>T (p.Asp2683Tyr)
NM_014363.6(SACS):c.8056C>T (p.Leu2686=) rs748595405
NM_014363.6(SACS):c.8062A>G (p.Thr2688Ala)
NM_014363.6(SACS):c.8064C>A (p.Thr2688=) rs1868538797
NM_014363.6(SACS):c.8067T>C (p.His2689=)
NM_014363.6(SACS):c.8074C>A (p.Leu2692Met)
NM_014363.6(SACS):c.8085C>T (p.Cys2695=)
NM_014363.6(SACS):c.8088A>T (p.Thr2696=) rs1868536944
NM_014363.6(SACS):c.810T>C (p.Phe270=) rs116907814
NM_014363.6(SACS):c.813C>T (p.Phe271=) rs2137727948
NM_014363.6(SACS):c.8142G>T (p.Ser2714=) rs530250252
NM_014363.6(SACS):c.8145T>A (p.Ser2715=)
NM_014363.6(SACS):c.8157A>G (p.Ser2719=)
NM_014363.6(SACS):c.8169C>A (p.Val2723=)
NM_014363.6(SACS):c.8169C>G (p.Val2723=)
NM_014363.6(SACS):c.8169C>T (p.Val2723=) rs771919940
NM_014363.6(SACS):c.8179T>C (p.Leu2727=) rs1868521401
NM_014363.6(SACS):c.8187A>G (p.Lys2729=) rs1566063362
NM_014363.6(SACS):c.8190G>A (p.Leu2730=) rs1593126657
NM_014363.6(SACS):c.8193C>T (p.Arg2731=)
NM_014363.6(SACS):c.8199T>C (p.Asp2733=)
NM_014363.6(SACS):c.81G>A (p.Ala27=)
NM_014363.6(SACS):c.8211T>C (p.Leu2737=)
NM_014363.6(SACS):c.8214A>G (p.Leu2738=) rs780464110
NM_014363.6(SACS):c.8226T>C (p.Asn2742=) rs2137593985
NM_014363.6(SACS):c.8241T>C (p.Ile2747=) rs2137593811
NM_014363.6(SACS):c.8254A>C (p.Ile2752Leu) rs375814343
NM_014363.6(SACS):c.8258A>G (p.Asp2753Gly)
NM_014363.6(SACS):c.8258A>T (p.Asp2753Val)
NM_014363.6(SACS):c.825T>A (p.Leu275=) rs2137727818
NM_014363.6(SACS):c.8267C>T (p.Thr2756Ile)
NM_014363.6(SACS):c.8272G>A (p.Ala2758Thr)
NM_014363.6(SACS):c.8275C>T (p.Leu2759=)
NM_014363.6(SACS):c.8277A>G (p.Leu2759=) rs964594403
NM_014363.6(SACS):c.8277A>T (p.Leu2759=)
NM_014363.6(SACS):c.8283G>A (p.Val2761=)
NM_014363.6(SACS):c.8286G>A (p.Leu2762=) rs2137593411
NM_014363.6(SACS):c.8295A>G (p.Val2765=) rs2137593329
NM_014363.6(SACS):c.8319C>T (p.Asp2773=) rs1199179557
NM_014363.6(SACS):c.8323T>C (p.Leu2775=) rs1868501939
NM_014363.6(SACS):c.8349T>C (p.Ser2783=)
NM_014363.6(SACS):c.8352A>C (p.Val2784=) rs1453849346
NM_014363.6(SACS):c.8362G>A (p.Val2788Ile)
NM_014363.6(SACS):c.8364T>C (p.Val2788=)
NM_014363.6(SACS):c.8367T>C (p.Thr2789=)
NM_014363.6(SACS):c.8409C>G (p.Thr2803=) rs746612218
NM_014363.6(SACS):c.8409C>T (p.Thr2803=) rs746612218
NM_014363.6(SACS):c.840A>C (p.Ser280=)
NM_014363.6(SACS):c.8427G>A (p.Glu2809=) rs2137592068
NM_014363.6(SACS):c.8437G>A (p.Gly2813Arg)
NM_014363.6(SACS):c.843A>G (p.Gln281=)
NM_014363.6(SACS):c.8448T>C (p.Thr2816=)
NM_014363.6(SACS):c.8451G>A (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.8451G>C (p.Thr2817=) rs749291377
NM_014363.6(SACS):c.8455C>T (p.Leu2819=)
NM_014363.6(SACS):c.8490G>C (p.Glu2830Asp)
NM_014363.6(SACS):c.8496A>T (p.Val2832=) rs2137591469
NM_014363.6(SACS):c.8499T>C (p.Ser2833=)
NM_014363.6(SACS):c.84C>G (p.Ser28=)
NM_014363.6(SACS):c.84C>T (p.Ser28=)
NM_014363.6(SACS):c.8505T>C (p.Ser2835=) rs1868476676
NM_014363.6(SACS):c.8509A>G (p.Ile2837Val)
NM_014363.6(SACS):c.8511A>G (p.Ile2837Met)
NM_014363.6(SACS):c.8514A>C (p.Ser2838=) rs2137591232
NM_014363.6(SACS):c.8520C>T (p.His2840=)
NM_014363.6(SACS):c.8529A>G (p.Gln2843=) rs2137591155
NM_014363.6(SACS):c.8532T>C (p.Asp2844=)
NM_014363.6(SACS):c.8538T>A (p.Thr2846=) rs1593126169
NM_014363.6(SACS):c.8541T>C (p.Leu2847=) rs546729483
NM_014363.6(SACS):c.8565C>T (p.Ala2855=) rs774758836
NM_014363.6(SACS):c.8571T>A (p.Ile2857=)
NM_014363.6(SACS):c.8571T>C (p.Ile2857=)
NM_014363.6(SACS):c.8574T>C (p.Thr2858=)
NM_014363.6(SACS):c.8583T>C (p.Tyr2861=)
NM_014363.6(SACS):c.858C>T (p.Leu286=) rs1870340453
NM_014363.6(SACS):c.8604C>T (p.Phe2868=) rs1031471964
NM_014363.6(SACS):c.8610T>C (p.Phe2870=)
NM_014363.6(SACS):c.8619T>C (p.Leu2873=)
NM_014363.6(SACS):c.8623T>C (p.Leu2875=)
NM_014363.6(SACS):c.8631T>G (p.Thr2877=) rs2137590401
NM_014363.6(SACS):c.863A>G (p.Asn288Ser)
NM_014363.6(SACS):c.8640A>G (p.Pro2880=)
NM_014363.6(SACS):c.8655C>T (p.Gly2885=)
NM_014363.6(SACS):c.866A>C (p.Lys289Thr)
NM_014363.6(SACS):c.8692C>T (p.Arg2898Cys)
NM_014363.6(SACS):c.8694T>A (p.Arg2898=)
NM_014363.6(SACS):c.8700T>C (p.Asp2900=) rs1207531130
NM_014363.6(SACS):c.8712T>C (p.Gly2904=)
NM_014363.6(SACS):c.8740A>G (p.Met2914Val)
NM_014363.6(SACS):c.8773T>C (p.Leu2925=) rs2137589672
NM_014363.6(SACS):c.8778A>G (p.Leu2926=)
NM_014363.6(SACS):c.8794C>T (p.Arg2932Trp) rs370913893
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
NM_014363.6(SACS):c.8796G>C (p.Arg2932=)
NM_014363.6(SACS):c.8797T>C (p.Tyr2933His)
NM_014363.6(SACS):c.879T>A (p.Leu293=)
NM_014363.6(SACS):c.879T>C (p.Leu293=)
NM_014363.6(SACS):c.8804C>T (p.Pro2935Leu)
NM_014363.6(SACS):c.8809T>A (p.Ser2937Thr)
NM_014363.6(SACS):c.8816C>T (p.Pro2939Leu)
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
NM_014363.6(SACS):c.8822T>C (p.Leu2941Ser)
NM_014363.6(SACS):c.8823A>G (p.Leu2941=)
NM_014363.6(SACS):c.8835G>A (p.Gln2945=) rs1868447934
NM_014363.6(SACS):c.8838C>T (p.Asn2946=) rs2137588990
NM_014363.6(SACS):c.8841C>G (p.Thr2947=)
NM_014363.6(SACS):c.8844T>G (p.Pro2948=)
NM_014363.6(SACS):c.8849A>C (p.His2950Pro)
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.8864C>A (p.Thr2955Asn)
NM_014363.6(SACS):c.888T>C (p.Phe296=)
NM_014363.6(SACS):c.8904T>C (p.Leu2968=) rs2137588252
NM_014363.6(SACS):c.8907T>C (p.Asp2969=)
NM_014363.6(SACS):c.891G>A (p.Glu297=) rs2137727218
NM_014363.6(SACS):c.8925T>C (p.Tyr2975=) rs971494277
NM_014363.6(SACS):c.8928T>C (p.Cys2976=) rs756222456
NM_014363.6(SACS):c.8931A>T (p.Leu2977=) rs376228714
NM_014363.6(SACS):c.8934G>A (p.Val2978=)
NM_014363.6(SACS):c.897T>C (p.Phe299=) rs2137727190
NM_014363.6(SACS):c.8992G>C (p.Ala2998Pro)
NM_014363.6(SACS):c.8994T>A (p.Ala2998=) rs2137587608
NM_014363.6(SACS):c.9009C>T (p.Gly3003=)
NM_014363.6(SACS):c.9015C>T (p.Asp3005=) rs769712713
NM_014363.6(SACS):c.9021C>T (p.His3007=) rs1868427865
NM_014363.6(SACS):c.9024T>G (p.Ser3008=) rs2137587321
NM_014363.6(SACS):c.9039T>C (p.Thr3013=)
NM_014363.6(SACS):c.903A>G (p.Ala301=)
NM_014363.6(SACS):c.9052T>C (p.Ser3018Pro)
NM_014363.6(SACS):c.9057T>C (p.Thr3019=) rs1180500330
NM_014363.6(SACS):c.9063T>G (p.Asn3021Lys)
NM_014363.6(SACS):c.9073C>T (p.Pro3025Ser)
NM_014363.6(SACS):c.9075A>G (p.Pro3025=)
NM_014363.6(SACS):c.9087T>C (p.Asn3029=)
NM_014363.6(SACS):c.9093A>G (p.Leu3031=) rs1350252405
NM_014363.6(SACS):c.9096G>T (p.Gln3032His)
NM_014363.6(SACS):c.9107A>G (p.Gln3036Arg)
NM_014363.6(SACS):c.9111C>T (p.His3037=) rs2137586671
NM_014363.6(SACS):c.9114T>A (p.Leu3038=) rs1198368369
NM_014363.6(SACS):c.9123A>G (p.Ala3041=) rs2137586583
NM_014363.6(SACS):c.9129T>C (p.Tyr3043=)
NM_014363.6(SACS):c.9132T>C (p.Asn3044=) rs2137586506
NM_014363.6(SACS):c.9133A>G (p.Ile3045Val)
NM_014363.6(SACS):c.9142C>T (p.Arg3048Cys)
NM_014363.6(SACS):c.9167A>G (p.Tyr3056Cys)
NM_014363.6(SACS):c.9170G>A (p.Arg3057Lys)
NM_014363.6(SACS):c.9174G>A (p.Leu3058=)
NM_014363.6(SACS):c.9183C>T (p.Leu3061=) rs2137586200
NM_014363.6(SACS):c.9195T>C (p.Ile3065=) rs2137586072
NM_014363.6(SACS):c.9203A>G (p.Asn3068Ser)
NM_014363.6(SACS):c.9205T>C (p.Leu3069=)
NM_014363.6(SACS):c.9212A>G (p.Tyr3071Cys)
NM_014363.6(SACS):c.921G>A (p.Leu307=) rs1870332993
NM_014363.6(SACS):c.9231T>A (p.Ala3077=)
NM_014363.6(SACS):c.9231T>C (p.Ala3077=) rs779640503
NM_014363.6(SACS):c.9237T>C (p.Leu3079=)
NM_014363.6(SACS):c.9241C>T (p.His3081Tyr)
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
NM_014363.6(SACS):c.9249T>C (p.Leu3083=)
NM_014363.6(SACS):c.9257C>T (p.Ala3086Val)
NM_014363.6(SACS):c.9258A>G (p.Ala3086=) rs2137585518
NM_014363.6(SACS):c.9267T>C (p.Pro3089=)
NM_014363.6(SACS):c.9273T>C (p.Ser3091=) rs2137585391
NM_014363.6(SACS):c.9276T>C (p.Tyr3092=) rs2137585334
NM_014363.6(SACS):c.9282C>T (p.Thr3094=)
NM_014363.6(SACS):c.9293T>G (p.Ile3098Ser)
NM_014363.6(SACS):c.9310A>G (p.Thr3104Ala)
NM_014363.6(SACS):c.9330T>C (p.Thr3110=)
NM_014363.6(SACS):c.9336C>T (p.Cys3112=) rs2137584765
NM_014363.6(SACS):c.9348G>A (p.Lys3116=)
NM_014363.6(SACS):c.9358C>T (p.Arg3120Cys)
NM_014363.6(SACS):c.9359G>A (p.Arg3120His)
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu) rs569955570
NM_014363.6(SACS):c.9361C>T (p.Leu3121=) rs2137584537
NM_014363.6(SACS):c.9372T>A (p.Thr3124=) rs2137584446
NM_014363.6(SACS):c.9381A>G (p.Lys3127=) rs2137584369
NM_014363.6(SACS):c.9386T>C (p.Phe3129Ser)
NM_014363.6(SACS):c.9389A>G (p.His3130Arg)
NM_014363.6(SACS):c.9390T>C (p.His3130=)
NM_014363.6(SACS):c.939G>A (p.Val313=) rs1196445565
NM_014363.6(SACS):c.939G>T (p.Val313=) rs1196445565
NM_014363.6(SACS):c.9403T>C (p.Leu3135=) rs867103476
NM_014363.6(SACS):c.9405A>G (p.Leu3135=) rs866488144
NM_014363.6(SACS):c.9408T>C (p.Val3136=)
NM_014363.6(SACS):c.9410A>G (p.Asp3137Gly)
NM_014363.6(SACS):c.9411T>C (p.Asp3137=)
NM_014363.6(SACS):c.9417T>C (p.Cys3139=) rs2137584002
NM_014363.6(SACS):c.941A>G (p.Gln314Arg)
NM_014363.6(SACS):c.9420T>C (p.Phe3140=)
NM_014363.6(SACS):c.9443T>C (p.Ile3148Thr)
NM_014363.6(SACS):c.9462C>G (p.Pro3154=)
NM_014363.6(SACS):c.9465T>C (p.Leu3155=) rs1593125038
NM_014363.6(SACS):c.9468C>T (p.Leu3156=)
NM_014363.6(SACS):c.9475C>T (p.Leu3159=)
NM_014363.6(SACS):c.9476T>C (p.Leu3159Pro)
NM_014363.6(SACS):c.9484G>A (p.Val3162Ile)
NM_014363.6(SACS):c.948T>C (p.Val316=)
NM_014363.6(SACS):c.9504A>T (p.Ala3168=)
NM_014363.6(SACS):c.9509G>A (p.Arg3170Gln)
NM_014363.6(SACS):c.9510A>C (p.Arg3170=) rs2137583405
NM_014363.6(SACS):c.9519T>C (p.Phe3173=) rs780746393
NM_014363.6(SACS):c.951C>T (p.Ser317=) rs2137726663
NM_014363.6(SACS):c.9528A>G (p.Thr3176=)
NM_014363.6(SACS):c.9534T>C (p.His3178=) rs1029799719
NM_014363.6(SACS):c.9543T>A (p.Ile3181=)
NM_014363.6(SACS):c.9549C>T (p.Ser3183=)
NM_014363.6(SACS):c.9558C>T (p.Asp3186=)
NM_014363.6(SACS):c.9569A>G (p.Asn3190Ser)
NM_014363.6(SACS):c.9576A>G (p.Leu3192=)
NM_014363.6(SACS):c.9579T>C (p.Tyr3193=)
NM_014363.6(SACS):c.957T>C (p.Tyr319=)
NM_014363.6(SACS):c.9591T>C (p.Ser3197=) rs764477877
NM_014363.6(SACS):c.9594T>C (p.Asn3198=)
NM_014363.6(SACS):c.9601T>C (p.Leu3201=)
NM_014363.6(SACS):c.960C>T (p.Val320=)
NM_014363.6(SACS):c.9618A>C (p.Ala3206=)
NM_014363.6(SACS):c.9619A>G (p.Lys3207Glu)
NM_014363.6(SACS):c.9630C>T (p.Asp3210=)
NM_014363.6(SACS):c.9637A>G (p.Ser3213Gly)
NM_014363.6(SACS):c.9642T>C (p.Phe3214=) rs2137582243
NM_014363.6(SACS):c.9645T>G (p.Ala3215=)
NM_014363.6(SACS):c.9651G>A (p.Leu3217=) rs778613923
NM_014363.6(SACS):c.9657C>T (p.Ser3219=)
NM_014363.6(SACS):c.9663G>A (p.Val3221=)
NM_014363.6(SACS):c.9668C>T (p.Pro3223Leu)
NM_014363.6(SACS):c.9675A>G (p.Glu3225=)
NM_014363.6(SACS):c.9678T>C (p.Tyr3226=) rs2137581806
NM_014363.6(SACS):c.9683C>T (p.Thr3228Ile)
NM_014363.6(SACS):c.9684C>G (p.Thr3228=)
NM_014363.6(SACS):c.9692G>A (p.Cys3231Tyr)
NM_014363.6(SACS):c.9696A>G (p.Thr3232=) rs1301795803
NM_014363.6(SACS):c.9699G>A (p.Lys3233=) rs1593124697
NM_014363.6(SACS):c.96C>T (p.Arg32=)
NM_014363.6(SACS):c.9708C>A (p.Asp3236Glu)
NM_014363.6(SACS):c.9710A>G (p.Asn3237Ser)
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.972C>T (p.Asp324=) rs546652936
NM_014363.6(SACS):c.974G>A (p.Gly325Glu)
NM_014363.6(SACS):c.9759A>G (p.Glu3253=) rs1883673090
NM_014363.6(SACS):c.9762T>A (p.Ser3254=) rs1883672788
NM_014363.6(SACS):c.9771G>A (p.Val3257=) rs2137580934
NM_014363.6(SACS):c.9771G>C (p.Val3257=)
NM_014363.6(SACS):c.9786A>G (p.Glu3262=)
NM_014363.6(SACS):c.978A>G (p.Thr326=)
NM_014363.6(SACS):c.9791C>A (p.Thr3264Lys)
NM_014363.6(SACS):c.9801A>G (p.Thr3267=) rs765872254
NM_014363.6(SACS):c.9807C>T (p.Asp3269=)
NM_014363.6(SACS):c.9815T>G (p.Val3272Gly)
NM_014363.6(SACS):c.9828A>T (p.Lys3276Asn)
NM_014363.6(SACS):c.9831C>T (p.Asp3277=)
NM_014363.6(SACS):c.9837A>G (p.Ala3279=) rs2137580360
NM_014363.6(SACS):c.9846A>C (p.Pro3282=) rs61753111
NM_014363.6(SACS):c.9850A>G (p.Thr3284Ala)
NM_014363.6(SACS):c.9858T>G (p.Phe3286Leu)
NM_014363.6(SACS):c.9861T>C (p.Thr3287=) rs2137580158
NM_014363.6(SACS):c.9873C>T (p.Asn3291=) rs2137580081
NM_014363.6(SACS):c.9888T>G (p.Pro3296=) rs755440793
NM_014363.6(SACS):c.9891A>G (p.Glu3297=) rs528073122
NM_014363.6(SACS):c.9903G>C (p.Leu3301=)
NM_014363.6(SACS):c.9906T>A (p.Leu3302=)
NM_014363.6(SACS):c.9909T>C (p.Pro3303=)
NM_014363.6(SACS):c.9910C>T (p.Leu3304Phe)
NM_014363.6(SACS):c.9912C>T (p.Leu3304=) rs1593124372
NM_014363.6(SACS):c.9919A>C (p.Met3307Leu)
NM_014363.6(SACS):c.9925A>G (p.Ile3309Val)
NM_014363.6(SACS):c.9927T>G (p.Ile3309Met)
NM_014363.6(SACS):c.9938C>T (p.Pro3313Leu)
NM_014363.6(SACS):c.993T>C (p.Phe331=) rs1870321510
NM_014363.6(SACS):c.9948G>A (p.Gln3316=)
NM_014363.6(SACS):c.9968C>T (p.Ala3323Val)
NM_014363.6(SACS):c.9969T>C (p.Ala3323=)
NM_014363.6(SACS):c.9970C>T (p.Leu3324=)
NM_014363.6(SACS):c.9972A>G (p.Leu3324=) rs772412510
NM_014363.6(SACS):c.9981T>G (p.Ala3327=)
NM_014363.6(SACS):c.999G>C (p.Val333=) rs2137726131
NM_014363.6(SACS):c.9C>T (p.Thr3=)
NM_015346.4(ZFYVE26):c.1017+11C>T
NM_015346.4(ZFYVE26):c.1017+16T>C
NM_015346.4(ZFYVE26):c.1017+8A>G
NM_015346.4(ZFYVE26):c.1018-11T>C
NM_015346.4(ZFYVE26):c.1018-12T>C
NM_015346.4(ZFYVE26):c.1018-19A>G
NM_015346.4(ZFYVE26):c.1018-4dup rs2140250168
NM_015346.4(ZFYVE26):c.1020A>C (p.Val340=) rs1281717550
NM_015346.4(ZFYVE26):c.1027C>T (p.Leu343=)
NM_015346.4(ZFYVE26):c.1029A>G (p.Leu343=)
NM_015346.4(ZFYVE26):c.1033T>C (p.Leu345=)
NM_015346.4(ZFYVE26):c.1035G>A (p.Leu345=)
NM_015346.4(ZFYVE26):c.105T>C (p.Cys35=) rs2040392803
NM_015346.4(ZFYVE26):c.1092C>A (p.Pro364=)
NM_015346.4(ZFYVE26):c.1114C>T (p.Leu372=)
NM_015346.4(ZFYVE26):c.1119C>A (p.Gly373=)
NM_015346.4(ZFYVE26):c.1138C>T (p.Leu380=) rs2140249990
NM_015346.4(ZFYVE26):c.1140A>G (p.Leu380=) rs2140249986
NM_015346.4(ZFYVE26):c.1152G>A (p.Lys384=)
NM_015346.4(ZFYVE26):c.1161C>T (p.Leu387=)
NM_015346.4(ZFYVE26):c.1173C>T (p.His391=) rs1457866223
NM_015346.4(ZFYVE26):c.1179C>G (p.Thr393=)
NM_015346.4(ZFYVE26):c.117A>G (p.Leu39=) rs2140260875
NM_015346.4(ZFYVE26):c.1182+10A>T
NM_015346.4(ZFYVE26):c.1182+12T>G
NM_015346.4(ZFYVE26):c.1182+16C>T
NM_015346.4(ZFYVE26):c.1182+7C>G rs745754548
NM_015346.4(ZFYVE26):c.1182+7C>T rs745754548
NM_015346.4(ZFYVE26):c.1182+8_1182+9del
NM_015346.4(ZFYVE26):c.1183-12A>G
NM_015346.4(ZFYVE26):c.1183-13C>T
NM_015346.4(ZFYVE26):c.1183-16T>C
NM_015346.4(ZFYVE26):c.1183-17C>G
NM_015346.4(ZFYVE26):c.1183-4A>G
NM_015346.4(ZFYVE26):c.1185C>T (p.Gly395=) rs2140249763
NM_015346.4(ZFYVE26):c.1188A>C (p.Pro396=) rs2040155782
NM_015346.4(ZFYVE26):c.1188A>G (p.Pro396=) rs2040155782
NM_015346.4(ZFYVE26):c.1194T>C (p.Cys398=) rs2140249749
NM_015346.4(ZFYVE26):c.1197T>C (p.Asp399=)
NM_015346.4(ZFYVE26):c.1200G>A (p.Glu400=)
NM_015346.4(ZFYVE26):c.1203C>A (p.Leu401=) rs1404366585
NM_015346.4(ZFYVE26):c.1203C>T (p.Leu401=)
NM_015346.4(ZFYVE26):c.120G>A (p.Gln40=) rs2140260868
NM_015346.4(ZFYVE26):c.1227G>A (p.Leu409=) rs1237173012
NM_015346.4(ZFYVE26):c.1233T>C (p.Ala411=) rs1351690810
NM_015346.4(ZFYVE26):c.1271+10T>C
NM_015346.4(ZFYVE26):c.1271+11G>A
NM_015346.4(ZFYVE26):c.1271+14C>T
NM_015346.4(ZFYVE26):c.1271+20G>C
NM_015346.4(ZFYVE26):c.1271+9C>A
NM_015346.4(ZFYVE26):c.1272-16C>T
NM_015346.4(ZFYVE26):c.1272-6A>G
NM_015346.4(ZFYVE26):c.1272-8C>T rs925033950
NM_015346.4(ZFYVE26):c.1272-9_1272-4del
NM_015346.4(ZFYVE26):c.1281A>T (p.Ile427=) rs2140248715
NM_015346.4(ZFYVE26):c.1284A>G (p.Pro428=) rs2140248706
NM_015346.4(ZFYVE26):c.1290A>G (p.Arg430=) rs2140248693
NM_015346.4(ZFYVE26):c.1329A>G (p.Ser443=) rs2140248638
NM_015346.4(ZFYVE26):c.1332G>A (p.Val444=) rs373043055
NM_015346.4(ZFYVE26):c.1332G>T (p.Val444=) rs373043055
NM_015346.4(ZFYVE26):c.1338C>T (p.Tyr446=)
NM_015346.4(ZFYVE26):c.1341T>C (p.Thr447=) rs2140248619
NM_015346.4(ZFYVE26):c.1347T>C (p.His449=)
NM_015346.4(ZFYVE26):c.1350C>T (p.His450=) rs2140248607
NM_015346.4(ZFYVE26):c.1353T>A (p.Leu451=) rs2140248601
NM_015346.4(ZFYVE26):c.135T>C (p.Asp45=) rs2140260852
NM_015346.4(ZFYVE26):c.1368C>A (p.Ala456=)
NM_015346.4(ZFYVE26):c.1392G>A (p.Lys464=) rs1476920248
NM_015346.4(ZFYVE26):c.1398A>G (p.Leu466=)
NM_015346.4(ZFYVE26):c.1410A>C (p.Pro470=) rs200601644
NM_015346.4(ZFYVE26):c.141A>G (p.Pro47=) rs2140260850
NM_015346.4(ZFYVE26):c.1436-16T>G
NM_015346.4(ZFYVE26):c.1436-5T>C
NM_015346.4(ZFYVE26):c.1440A>G (p.Ala480=)
NM_015346.4(ZFYVE26):c.1449T>A (p.Ala483=) rs2140246869
NM_015346.4(ZFYVE26):c.144G>A (p.Lys48=)
NM_015346.4(ZFYVE26):c.1461G>A (p.Glu487=) rs2040092705
NM_015346.4(ZFYVE26):c.1465C>T (p.Leu489=)
NM_015346.4(ZFYVE26):c.1467G>C (p.Leu489=)
NM_015346.4(ZFYVE26):c.1476T>C (p.Cys492=)
NM_015346.4(ZFYVE26):c.1503C>T (p.Phe501=)
NM_015346.4(ZFYVE26):c.1521C>T (p.Ala507=)
NM_015346.4(ZFYVE26):c.1530C>T (p.Ala510=)
NM_015346.4(ZFYVE26):c.1539A>G (p.Val513=) rs2140246736
NM_015346.4(ZFYVE26):c.1542C>T (p.Asn514=)
NM_015346.4(ZFYVE26):c.1596G>A (p.Leu532=)
NM_015346.4(ZFYVE26):c.1599C>T (p.Ala533=)
NM_015346.4(ZFYVE26):c.1605T>C (p.Ala535=)
NM_015346.4(ZFYVE26):c.1608A>G (p.Thr536=)
NM_015346.4(ZFYVE26):c.1617G>A (p.Ala539=) rs771594278
NM_015346.4(ZFYVE26):c.1629C>T (p.Leu543=)
NM_015346.4(ZFYVE26):c.1639+18A>T
NM_015346.4(ZFYVE26):c.1639+19T>C
NM_015346.4(ZFYVE26):c.1639+7C>A rs2140246634
NM_015346.4(ZFYVE26):c.1639+9C>T rs1369382893
NM_015346.4(ZFYVE26):c.1640-10G>A
NM_015346.4(ZFYVE26):c.1640-19C>A
NM_015346.4(ZFYVE26):c.1640-20T>C
NM_015346.4(ZFYVE26):c.1640-4G>T rs1466959406
NM_015346.4(ZFYVE26):c.1640-6T>C rs2140243511
NM_015346.4(ZFYVE26):c.1644T>G (p.Ala548=)
NM_015346.4(ZFYVE26):c.1656C>T (p.Phe552=)
NM_015346.4(ZFYVE26):c.165G>A (p.Gln55=) rs186914861
NM_015346.4(ZFYVE26):c.1671C>T (p.Ala557=) rs372239298
NM_015346.4(ZFYVE26):c.1686T>C (p.Tyr562=) rs2140243442
NM_015346.4(ZFYVE26):c.168A>C (p.Ala56=)
NM_015346.4(ZFYVE26):c.168A>G (p.Ala56=) rs778455420
NM_015346.4(ZFYVE26):c.1714C>T (p.Leu572=)
NM_015346.4(ZFYVE26):c.1716G>A (p.Leu572=)
NM_015346.4(ZFYVE26):c.1740A>G (p.Ser580=) rs985545374
NM_015346.4(ZFYVE26):c.1761T>A (p.Ala587=)
NM_015346.4(ZFYVE26):c.1773A>C (p.Pro591=) rs2140243335
NM_015346.4(ZFYVE26):c.177G>A (p.Val59=) rs2140260764
NM_015346.4(ZFYVE26):c.1803G>A (p.Glu601=) rs2140243297
NM_015346.4(ZFYVE26):c.180T>C (p.Cys60=)
NM_015346.4(ZFYVE26):c.1812C>T (p.Asp604=) rs1784217528
NM_015346.4(ZFYVE26):c.1815T>C (p.Ile605=) rs747969543
NM_015346.4(ZFYVE26):c.1827C>T (p.Ser609=) rs2140243246
NM_015346.4(ZFYVE26):c.1830C>G (p.Pro610=)
NM_015346.4(ZFYVE26):c.1837T>C (p.Leu613=) rs1594930587
NM_015346.4(ZFYVE26):c.1848A>G (p.Pro616=)
NM_015346.4(ZFYVE26):c.1866C>T (p.His622=) rs1283832558
NM_015346.4(ZFYVE26):c.1875T>C (p.His625=) rs2140243137
NM_015346.4(ZFYVE26):c.1878T>C (p.Pro626=)
NM_015346.4(ZFYVE26):c.187C>T (p.Leu63=) rs2140260743
NM_015346.4(ZFYVE26):c.1890A>C (p.Ser630=)
NM_015346.4(ZFYVE26):c.189G>A (p.Leu63=)
NM_015346.4(ZFYVE26):c.1902C>T (p.Ser634=) rs776527539
NM_015346.4(ZFYVE26):c.1905G>A (p.Leu635=)
NM_015346.4(ZFYVE26):c.1905G>C (p.Leu635=) rs2040003657
NM_015346.4(ZFYVE26):c.1908A>C (p.Gly636=) rs2140243108
NM_015346.4(ZFYVE26):c.1926T>C (p.Ala642=)
NM_015346.4(ZFYVE26):c.192G>A (p.Leu64=)
NM_015346.4(ZFYVE26):c.1938A>G (p.Pro646=) rs1594930407
NM_015346.4(ZFYVE26):c.194+12C>A
NM_015346.4(ZFYVE26):c.194+17C>T
NM_015346.4(ZFYVE26):c.194+18C>T
NM_015346.4(ZFYVE26):c.194+20A>C
NM_015346.4(ZFYVE26):c.1944T>C (p.His648=) rs1466130502
NM_015346.4(ZFYVE26):c.195-10C>T
NM_015346.4(ZFYVE26):c.195-15T>G
NM_015346.4(ZFYVE26):c.195-4T>G
NM_015346.4(ZFYVE26):c.195-9C>A rs2040352675
NM_015346.4(ZFYVE26):c.1953A>G (p.Ala651=) rs778059743
NM_015346.4(ZFYVE26):c.1956G>A (p.Glu652=) rs2140243023
NM_015346.4(ZFYVE26):c.1962A>G (p.Lys654=) rs2140243011
NM_015346.4(ZFYVE26):c.1965C>T (p.Asp655=)
NM_015346.4(ZFYVE26):c.1977G>C (p.Gly659=)
NM_015346.4(ZFYVE26):c.1983T>C (p.His661=) rs892896927
NM_015346.4(ZFYVE26):c.1995T>C (p.Phe665=)
NM_015346.4(ZFYVE26):c.2058G>A (p.Gly686=)
NM_015346.4(ZFYVE26):c.2067C>A (p.Leu689=) rs141880939
NM_015346.4(ZFYVE26):c.2070G>A (p.Arg690=) rs911420369
NM_015346.4(ZFYVE26):c.2076C>T (p.Leu692=) rs2140242822
NM_015346.4(ZFYVE26):c.2086C>T (p.Leu696=) rs2140242807
NM_015346.4(ZFYVE26):c.2091T>C (p.Asp697=) rs2140242793
NM_015346.4(ZFYVE26):c.2106C>T (p.Arg702=)
NM_015346.4(ZFYVE26):c.2142C>T (p.Ser714=)
NM_015346.4(ZFYVE26):c.2155A>C (p.Arg719=) rs1022816860
NM_015346.4(ZFYVE26):c.2164C>T (p.Leu722=)
NM_015346.4(ZFYVE26):c.2190C>T (p.Ser730=) rs2140242635
NM_015346.4(ZFYVE26):c.2199C>A (p.Val733=)
NM_015346.4(ZFYVE26):c.2199C>T (p.Val733=) rs2140242617
NM_015346.4(ZFYVE26):c.2202T>C (p.Ser734=) rs2140242614
NM_015346.4(ZFYVE26):c.2229G>A (p.Val743=) rs1213595669
NM_015346.4(ZFYVE26):c.2238C>T (p.Asn746=)
NM_015346.4(ZFYVE26):c.2241T>C (p.His747=)
NM_015346.4(ZFYVE26):c.2248+10G>A
NM_015346.4(ZFYVE26):c.2248+10G>C
NM_015346.4(ZFYVE26):c.2248+12G>T
NM_015346.4(ZFYVE26):c.2248+14G>T
NM_015346.4(ZFYVE26):c.2249-17T>C
NM_015346.4(ZFYVE26):c.2249-20C>T
NM_015346.4(ZFYVE26):c.2259T>C (p.Pro753=)
NM_015346.4(ZFYVE26):c.2268A>G (p.Arg756=)
NM_015346.4(ZFYVE26):c.2274G>A (p.Gln758=) rs2140242219
NM_015346.4(ZFYVE26):c.2283A>G (p.Thr761=)
NM_015346.4(ZFYVE26):c.2313G>C (p.Arg771=)
NM_015346.4(ZFYVE26):c.2316A>G (p.Thr772=)
NM_015346.4(ZFYVE26):c.2325C>T (p.Ser775=) rs771531866
NM_015346.4(ZFYVE26):c.2332+13G>T
NM_015346.4(ZFYVE26):c.2332+14C>T
NM_015346.4(ZFYVE26):c.2332+16C>T
NM_015346.4(ZFYVE26):c.2332+17A>G
NM_015346.4(ZFYVE26):c.2333-10A>C
NM_015346.4(ZFYVE26):c.2333-12C>T
NM_015346.4(ZFYVE26):c.2333-6del rs2140238577
NM_015346.4(ZFYVE26):c.234C>T (p.Val78=) rs777331673
NM_015346.4(ZFYVE26):c.2355C>T (p.Asn785=) rs1371849482
NM_015346.4(ZFYVE26):c.2358A>G (p.Pro786=) rs2140238529
NM_015346.4(ZFYVE26):c.2385G>C (p.Leu795=)
NM_015346.4(ZFYVE26):c.2397G>C (p.Thr799=)
NM_015346.4(ZFYVE26):c.2401+10T>A rs2140238468
NM_015346.4(ZFYVE26):c.2401+14C>T
NM_015346.4(ZFYVE26):c.2401+17C>T
NM_015346.4(ZFYVE26):c.2402-10G>A
NM_015346.4(ZFYVE26):c.2402-12G>C
NM_015346.4(ZFYVE26):c.2402-17T>C
NM_015346.4(ZFYVE26):c.2402-7C>A
NM_015346.4(ZFYVE26):c.2412G>A (p.Leu804=) rs1412341484
NM_015346.4(ZFYVE26):c.2418C>G (p.Ala806=)
NM_015346.4(ZFYVE26):c.2430G>T (p.Arg810=) rs767034399
NM_015346.4(ZFYVE26):c.2449T>C (p.Leu817=)
NM_015346.4(ZFYVE26):c.2451G>A (p.Leu817=) rs774054118
NM_015346.4(ZFYVE26):c.2454C>T (p.His818=) rs749100804
NM_015346.4(ZFYVE26):c.2469T>C (p.Ser823=) rs2140237850
NM_015346.4(ZFYVE26):c.2475C>T (p.Leu825=)
NM_015346.4(ZFYVE26):c.2493C>T (p.Ser831=) rs2140237813
NM_015346.4(ZFYVE26):c.2499T>G (p.Pro833=)
NM_015346.4(ZFYVE26):c.2520C>T (p.Cys840=) rs946599979
NM_015346.4(ZFYVE26):c.2523C>T (p.Ile841=)
NM_015346.4(ZFYVE26):c.2532G>C (p.Gly844=)
NM_015346.4(ZFYVE26):c.2547C>G (p.Ala849=) rs2140237709
NM_015346.4(ZFYVE26):c.2547C>T (p.Ala849=)
NM_015346.4(ZFYVE26):c.2553+11G>T
NM_015346.4(ZFYVE26):c.2553+15T>C
NM_015346.4(ZFYVE26):c.2553+17C>A
NM_015346.4(ZFYVE26):c.2553+18C>T
NM_015346.4(ZFYVE26):c.2553+7G>A
NM_015346.4(ZFYVE26):c.2553+8G>A rs1355900379
NM_015346.4(ZFYVE26):c.2554-10C>T rs776617186
NM_015346.4(ZFYVE26):c.2554-14C>A
NM_015346.4(ZFYVE26):c.2554-15C>G
NM_015346.4(ZFYVE26):c.2554-16C>T
NM_015346.4(ZFYVE26):c.2554-18_2554-17insCCCACACACGGTGGT
NM_015346.4(ZFYVE26):c.2554-19A>G
NM_015346.4(ZFYVE26):c.2554-7A>G rs981289310
NM_015346.4(ZFYVE26):c.2554-8T>C
NM_015346.4(ZFYVE26):c.2554-9dup
NM_015346.4(ZFYVE26):c.2556G>A (p.Val852=) rs775588697
NM_015346.4(ZFYVE26):c.2557C>T (p.Leu853=)
NM_015346.4(ZFYVE26):c.255A>G (p.Lys85=)
NM_015346.4(ZFYVE26):c.2562C>T (p.Phe854=) rs2140234236
NM_015346.4(ZFYVE26):c.2565G>A (p.Thr855=) rs145738942
NM_015346.4(ZFYVE26):c.2565G>C (p.Thr855=)
NM_015346.4(ZFYVE26):c.2586C>A (p.Pro862=)
NM_015346.4(ZFYVE26):c.2586C>T (p.Pro862=) rs2140234178
NM_015346.4(ZFYVE26):c.2592A>T (p.Ser864=) rs562348210
NM_015346.4(ZFYVE26):c.2613G>A (p.Glu871=) rs2140234135
NM_015346.4(ZFYVE26):c.2625A>G (p.Glu875=) rs2140234103
NM_015346.4(ZFYVE26):c.2628G>T (p.Val876=)
NM_015346.4(ZFYVE26):c.2646A>G (p.Gln882=) rs1387946575
NM_015346.4(ZFYVE26):c.2661T>C (p.Ile887=) rs765172292
NM_015346.4(ZFYVE26):c.2667C>T (p.Asn889=) rs2140234047
NM_015346.4(ZFYVE26):c.2673C>T (p.Asn891=) rs2039788312
NM_015346.4(ZFYVE26):c.2679T>C (p.Asp893=)
NM_015346.4(ZFYVE26):c.267G>A (p.Arg89=) rs2140258922
NM_015346.4(ZFYVE26):c.2685T>C (p.Gly895=)
NM_015346.4(ZFYVE26):c.2691C>T (p.Ser897=) rs1305710562
NM_015346.4(ZFYVE26):c.2694C>G (p.Thr898=)
NM_015346.4(ZFYVE26):c.2724T>C (p.Thr908=) rs150063715
NM_015346.4(ZFYVE26):c.2727A>G (p.Leu909=) rs1594922354
NM_015346.4(ZFYVE26):c.273+12dup
NM_015346.4(ZFYVE26):c.2733C>G (p.Ala911=)
NM_015346.4(ZFYVE26):c.2736T>C (p.Ile912=)
NM_015346.4(ZFYVE26):c.274-6T>C
NM_015346.4(ZFYVE26):c.2751A>G (p.Ala917=) rs748448880
NM_015346.4(ZFYVE26):c.2755+8T>C
NM_015346.4(ZFYVE26):c.2756-11T>C
NM_015346.4(ZFYVE26):c.2756-13G>A
NM_015346.4(ZFYVE26):c.2756-18C>T
NM_015346.4(ZFYVE26):c.2756-5G>T rs2140232758
NM_015346.4(ZFYVE26):c.2763G>A (p.Val921=)
NM_015346.4(ZFYVE26):c.2793G>A (p.Lys931=)
NM_015346.4(ZFYVE26):c.2796G>A (p.Leu932=) rs2140232652
NM_015346.4(ZFYVE26):c.279A>G (p.Leu93=) rs2140253861
NM_015346.4(ZFYVE26):c.2805C>T (p.Thr935=) rs772761310
NM_015346.4(ZFYVE26):c.2820C>A (p.Ile940=)
NM_015346.4(ZFYVE26):c.2820C>T (p.Ile940=) rs866746104
NM_015346.4(ZFYVE26):c.2829C>G (p.Leu943=)
NM_015346.4(ZFYVE26):c.282C>T (p.Leu94=)
NM_015346.4(ZFYVE26):c.2838C>T (p.Asp946=) rs1594921324
NM_015346.4(ZFYVE26):c.2841T>C (p.Phe947=) rs2140232569
NM_015346.4(ZFYVE26):c.2859A>G (p.Leu953=) rs189616103
NM_015346.4(ZFYVE26):c.285A>C (p.Pro95=) rs1398992728
NM_015346.4(ZFYVE26):c.2877C>T (p.Pro959=) rs2039752952
NM_015346.4(ZFYVE26):c.2878C>T (p.Leu960=) rs2140232490
NM_015346.4(ZFYVE26):c.2890C>T (p.Leu964=) rs2140232466
NM_015346.4(ZFYVE26):c.2892G>A (p.Leu964=) rs1814057819
NM_015346.4(ZFYVE26):c.2904T>C (p.Ser968=) rs1594921215
NM_015346.4(ZFYVE26):c.2910T>A (p.Pro970=) rs573175182
NM_015346.4(ZFYVE26):c.2913C>T (p.Ala971=)
NM_015346.4(ZFYVE26):c.2946C>T (p.Cys982=) rs2140232345
NM_015346.4(ZFYVE26):c.297G>T (p.Arg99=) rs2140253830
NM_015346.4(ZFYVE26):c.3000T>C (p.Asn1000=) rs2140232254
NM_015346.4(ZFYVE26):c.3019+10C>A
NM_015346.4(ZFYVE26):c.3019+10C>T rs2140232204
NM_015346.4(ZFYVE26):c.3019+11del
NM_015346.4(ZFYVE26):c.3019+12G>A
NM_015346.4(ZFYVE26):c.3019+13T>A
NM_015346.4(ZFYVE26):c.3019+14G>T
NM_015346.4(ZFYVE26):c.3019+7G>A rs2039746690
NM_015346.4(ZFYVE26):c.3020-10_3020-7del
NM_015346.4(ZFYVE26):c.3020-12A>C
NM_015346.4(ZFYVE26):c.3020-12A>G
NM_015346.4(ZFYVE26):c.3020-16_3020-13del
NM_015346.4(ZFYVE26):c.3020-5T>C rs2140228255
NM_015346.4(ZFYVE26):c.3020-8A>G
NM_015346.4(ZFYVE26):c.3039A>G (p.Val1013=)
NM_015346.4(ZFYVE26):c.3063A>T (p.Arg1021=) rs2140228123
NM_015346.4(ZFYVE26):c.3096G>A (p.Lys1032=)
NM_015346.4(ZFYVE26):c.309G>A (p.Glu103=)
NM_015346.4(ZFYVE26):c.3108T>C (p.Tyr1036=)
NM_015346.4(ZFYVE26):c.3123C>T (p.Ala1041=) rs2140228012
NM_015346.4(ZFYVE26):c.3129A>G (p.Gln1043=) rs2140227998
NM_015346.4(ZFYVE26):c.3139+12T>C
NM_015346.4(ZFYVE26):c.3139+14T>C
NM_015346.4(ZFYVE26):c.3139+20T>C
NM_015346.4(ZFYVE26):c.3139+7T>A
NM_015346.4(ZFYVE26):c.3139+7T>G rs2140227979
NM_015346.4(ZFYVE26):c.3139+9C>G rs1594917487
NM_015346.4(ZFYVE26):c.3140-14T>A
NM_015346.4(ZFYVE26):c.3140-14T>C
NM_015346.4(ZFYVE26):c.3140-15A>G
NM_015346.4(ZFYVE26):c.3140-16C>T
NM_015346.4(ZFYVE26):c.3140-20T>C
NM_015346.4(ZFYVE26):c.3140-4A>G
NM_015346.4(ZFYVE26):c.3150A>G (p.Glu1050=)
NM_015346.4(ZFYVE26):c.315T>C (p.Leu105=)
NM_015346.4(ZFYVE26):c.3174G>A (p.Arg1058=) rs2039644795
NM_015346.4(ZFYVE26):c.3177C>T (p.Cys1059=)
NM_015346.4(ZFYVE26):c.319T>C (p.Leu107=) rs1475441803
NM_015346.4(ZFYVE26):c.3204C>T (p.Cys1068=) rs2039643318
NM_015346.4(ZFYVE26):c.3210C>A (p.Pro1070=)
NM_015346.4(ZFYVE26):c.321G>A (p.Leu107=) rs2040243641
NM_015346.4(ZFYVE26):c.3222G>A (p.Glu1074=) rs1412659616
NM_015346.4(ZFYVE26):c.3243C>T (p.Thr1081=)
NM_015346.4(ZFYVE26):c.3248_3253del (p.Leu1083_Ser1084del) rs761454264
NM_015346.4(ZFYVE26):c.3252C>T (p.Ser1084=) rs1211102900
NM_015346.4(ZFYVE26):c.3288G>A (p.Glu1096=) rs966535038
NM_015346.4(ZFYVE26):c.3291A>G (p.Ala1097=) rs1017733323
NM_015346.4(ZFYVE26):c.3292C>T (p.Leu1098=) rs2140227554
NM_015346.4(ZFYVE26):c.3298C>T (p.Leu1100=)
NM_015346.4(ZFYVE26):c.3304+10T>G rs1210843882
NM_015346.4(ZFYVE26):c.3304+15G>A
NM_015346.4(ZFYVE26):c.3304+16C>T
NM_015346.4(ZFYVE26):c.3304+17T>C
NM_015346.4(ZFYVE26):c.3304+20G>A
NM_015346.4(ZFYVE26):c.3304+8G>C rs750205035
NM_015346.4(ZFYVE26):c.3304+8G>T rs750205035
NM_015346.4(ZFYVE26):c.3305-10C>T rs948493869
NM_015346.4(ZFYVE26):c.3305-13A>G
NM_015346.4(ZFYVE26):c.3305-14C>T
NM_015346.4(ZFYVE26):c.3305-15C>T
NM_015346.4(ZFYVE26):c.3305-16G>A rs1753579056
NM_015346.4(ZFYVE26):c.3305-16G>T
NM_015346.4(ZFYVE26):c.3305-7C>T
NM_015346.4(ZFYVE26):c.3315T>C (p.Thr1105=) rs2140226686
NM_015346.4(ZFYVE26):c.3321A>G (p.Pro1107=) rs2140226670
NM_015346.4(ZFYVE26):c.3336G>A (p.Val1112=) rs758075428
NM_015346.4(ZFYVE26):c.3336G>T (p.Val1112=) rs758075428
NM_015346.4(ZFYVE26):c.3339G>A (p.Glu1113=)
NM_015346.4(ZFYVE26):c.3345A>G (p.Ala1115=) rs2140226629
NM_015346.4(ZFYVE26):c.3360A>G (p.Pro1120=)
NM_015346.4(ZFYVE26):c.3369G>A (p.Glu1123=)
NM_015346.4(ZFYVE26):c.3372C>T (p.Ala1124=)
NM_015346.4(ZFYVE26):c.3384G>A (p.Gln1128=) rs1413616312
NM_015346.4(ZFYVE26):c.3396G>A (p.Gln1132=)
NM_015346.4(ZFYVE26):c.3399C>T (p.Leu1133=) rs763208198
NM_015346.4(ZFYVE26):c.342C>T (p.Asp114=)
NM_015346.4(ZFYVE26):c.3454T>C (p.Leu1152=) rs755944154
NM_015346.4(ZFYVE26):c.3480C>T (p.Ser1160=)
NM_015346.4(ZFYVE26):c.3492A>C (p.Ala1164=) rs1594916009
NM_015346.4(ZFYVE26):c.3510G>A (p.Leu1170=)
NM_015346.4(ZFYVE26):c.3519G>A (p.Glu1173=)
NM_015346.4(ZFYVE26):c.3523+10A>C rs2140226258
NM_015346.4(ZFYVE26):c.3523+15A>G
NM_015346.4(ZFYVE26):c.3523+19G>A
NM_015346.4(ZFYVE26):c.3523+7A>G
NM_015346.4(ZFYVE26):c.3525T>C (p.Asp1175=) rs751602809
NM_015346.4(ZFYVE26):c.3528T>C (p.His1176=) rs2039595593
NM_015346.4(ZFYVE26):c.3531G>A (p.Val1177=) rs2140225411
NM_015346.4(ZFYVE26):c.3534G>A (p.Glu1178=)
NM_015346.4(ZFYVE26):c.354C>T (p.Asn118=) rs2040243048
NM_015346.4(ZFYVE26):c.3591A>C (p.Ser1197=)
NM_015346.4(ZFYVE26):c.3591A>G (p.Ser1197=) rs1594915153
NM_015346.4(ZFYVE26):c.3594T>C (p.His1198=) rs2140225343
NM_015346.4(ZFYVE26):c.3603T>C (p.Phe1201=)
NM_015346.4(ZFYVE26):c.360C>T (p.Leu120=)
NM_015346.4(ZFYVE26):c.3621A>G (p.Pro1207=) rs776692192
NM_015346.4(ZFYVE26):c.3624G>A (p.Glu1208=) rs2039592354
NM_015346.4(ZFYVE26):c.3626+16A>G
NM_015346.4(ZFYVE26):c.3626+18G>A
NM_015346.4(ZFYVE26):c.3626+8C>G rs2039591963
NM_015346.4(ZFYVE26):c.3627-13T>G
NM_015346.4(ZFYVE26):c.3627-16G>A
NM_015346.4(ZFYVE26):c.3627-8C>T
NM_015346.4(ZFYVE26):c.363+10A>G
NM_015346.4(ZFYVE26):c.363+11G>C
NM_015346.4(ZFYVE26):c.363+13C>T
NM_015346.4(ZFYVE26):c.363+14C>G
NM_015346.4(ZFYVE26):c.363+9G>A rs2140253712
NM_015346.4(ZFYVE26):c.3630G>T (p.Leu1210=)
NM_015346.4(ZFYVE26):c.364-10C>T
NM_015346.4(ZFYVE26):c.364-13A>G
NM_015346.4(ZFYVE26):c.364-17C>T
NM_015346.4(ZFYVE26):c.364-9T>C rs1462792938
NM_015346.4(ZFYVE26):c.3645C>T (p.Ala1215=)
NM_015346.4(ZFYVE26):c.3648A>G (p.Gln1216=)
NM_015346.4(ZFYVE26):c.3651G>A (p.Glu1217=) rs1308302728
NM_015346.4(ZFYVE26):c.3657C>T (p.Leu1219=)
NM_015346.4(ZFYVE26):c.3663A>G (p.Leu1221=)
NM_015346.4(ZFYVE26):c.3669G>A (p.Val1223=)
NM_015346.4(ZFYVE26):c.366G>A (p.Glu122=)
NM_015346.4(ZFYVE26):c.3672A>G (p.Pro1224=) rs2140223998
NM_015346.4(ZFYVE26):c.3681C>T (p.Ile1227=) rs141264277
NM_015346.4(ZFYVE26):c.369G>C (p.Leu123=) rs918553976
NM_015346.4(ZFYVE26):c.36G>A (p.Ser12=) rs781768644
NM_015346.4(ZFYVE26):c.3708T>C (p.Ala1236=) rs2140223893
NM_015346.4(ZFYVE26):c.3714C>T (p.Cys1238=)
NM_015346.4(ZFYVE26):c.3738C>T (p.Thr1246=) rs2140223811
NM_015346.4(ZFYVE26):c.3741C>G (p.Ser1247=)
NM_015346.4(ZFYVE26):c.3741C>T (p.Ser1247=)
NM_015346.4(ZFYVE26):c.3750G>A (p.Leu1250=) rs2140223784
NM_015346.4(ZFYVE26):c.3762T>G (p.Gly1254=)
NM_015346.4(ZFYVE26):c.3771C>A (p.Ala1257=) rs2140223746
NM_015346.4(ZFYVE26):c.3795G>A (p.Leu1265=)
NM_015346.4(ZFYVE26):c.3804C>T (p.Leu1268=) rs2140223675
NM_015346.4(ZFYVE26):c.3807A>G (p.Pro1269=) rs2039558911
NM_015346.4(ZFYVE26):c.3828G>A (p.Pro1276=) rs372552407
NM_015346.4(ZFYVE26):c.3846T>A (p.Pro1282=) rs1057523453
NM_015346.4(ZFYVE26):c.3850T>C (p.Leu1284=)
NM_015346.4(ZFYVE26):c.3870C>G (p.Ser1290=) rs2140223540
NM_015346.4(ZFYVE26):c.3870C>T (p.Ser1290=) rs2140223540
NM_015346.4(ZFYVE26):c.3877A>C (p.Arg1293=) rs770011030
NM_015346.4(ZFYVE26):c.3885A>G (p.Ser1295=) rs2140223512
NM_015346.4(ZFYVE26):c.3888A>G (p.Ser1296=) rs1594913550
NM_015346.4(ZFYVE26):c.3897C>A (p.Ala1299=)
NM_015346.4(ZFYVE26):c.393A>T (p.Ala131=)
NM_015346.4(ZFYVE26):c.3942C>T (p.Leu1314=)
NM_015346.4(ZFYVE26):c.3948T>C (p.Ala1316=)
NM_015346.4(ZFYVE26):c.3954G>T (p.Val1318=) rs766376935
NM_015346.4(ZFYVE26):c.3957C>A (p.Ala1319=)
NM_015346.4(ZFYVE26):c.3957C>G (p.Ala1319=)
NM_015346.4(ZFYVE26):c.3957C>T (p.Ala1319=) rs2140223360
NM_015346.4(ZFYVE26):c.3960C>T (p.Cys1320=)
NM_015346.4(ZFYVE26):c.396A>G (p.Val132=)
NM_015346.4(ZFYVE26):c.3975G>C (p.Pro1325=)
NM_015346.4(ZFYVE26):c.3975G>T (p.Pro1325=) rs954507732
NM_015346.4(ZFYVE26):c.3978G>A (p.Arg1326=)
NM_015346.4(ZFYVE26):c.3987C>T (p.Val1329=) rs746375851
NM_015346.4(ZFYVE26):c.399C>T (p.Gly133=) rs760205577
NM_015346.4(ZFYVE26):c.4014A>G (p.Glu1338=) rs2140223226
NM_015346.4(ZFYVE26):c.4020T>C (p.Arg1340=) rs1594913273
NM_015346.4(ZFYVE26):c.4023C>G (p.Gly1341=) rs2039550135
NM_015346.4(ZFYVE26):c.4029G>A (p.Arg1343=) rs1201863887
NM_015346.4(ZFYVE26):c.4038T>G (p.Pro1346=)
NM_015346.4(ZFYVE26):c.4050G>A (p.Glu1350=)
NM_015346.4(ZFYVE26):c.405G>T (p.Val135=)
NM_015346.4(ZFYVE26):c.4089C>T (p.Phe1363=) rs200582127
NM_015346.4(ZFYVE26):c.4095G>A (p.Leu1365=) rs1594913105
NM_015346.4(ZFYVE26):c.4104C>G (p.Ala1368=) rs2039546240
NM_015346.4(ZFYVE26):c.4111C>T (p.Leu1371=)
NM_015346.4(ZFYVE26):c.4128C>A (p.Pro1376=) rs2140222971
NM_015346.4(ZFYVE26):c.4137G>A (p.Gly1379=) rs2140222951
NM_015346.4(ZFYVE26):c.4152G>A (p.Gly1384=) rs1280213429
NM_015346.4(ZFYVE26):c.4161G>A (p.Leu1387=) rs2039543987
NM_015346.4(ZFYVE26):c.4173C>T (p.Leu1391=) rs2140222887
NM_015346.4(ZFYVE26):c.4197C>A (p.Thr1399=)
NM_015346.4(ZFYVE26):c.4221C>T (p.Pro1407=) rs2140222812
NM_015346.4(ZFYVE26):c.4227C>T (p.Ala1409=)
NM_015346.4(ZFYVE26):c.4228C>T (p.Leu1410=) rs1292729275
NM_015346.4(ZFYVE26):c.4233T>C (p.Asp1411=)
NM_015346.4(ZFYVE26):c.4236A>G (p.Val1412=) rs1385088212
NM_015346.4(ZFYVE26):c.4261T>C (p.Leu1421=) rs759824450
NM_015346.4(ZFYVE26):c.4263G>A (p.Leu1421=)
NM_015346.4(ZFYVE26):c.426G>A (p.Arg142=)
NM_015346.4(ZFYVE26):c.4287C>T (p.Ala1429=) rs2140222673
NM_015346.4(ZFYVE26):c.429G>A (p.Glu143=) rs1555400391
NM_015346.4(ZFYVE26):c.42G>A (p.Lys14=) rs2140261050
NM_015346.4(ZFYVE26):c.4305G>C (p.Val1435=) rs756076114
NM_015346.4(ZFYVE26):c.4312C>A (p.Arg1438=)
NM_015346.4(ZFYVE26):c.4329G>A (p.Leu1443=)
NM_015346.4(ZFYVE26):c.4338A>T (p.Ile1446=) rs765803190
NM_015346.4(ZFYVE26):c.4341G>A (p.Lys1447=)
NM_015346.4(ZFYVE26):c.4350C>A (p.Val1450=) rs1594912647
NM_015346.4(ZFYVE26):c.4350C>T (p.Val1450=) rs1594912647
NM_015346.4(ZFYVE26):c.4353G>C (p.Leu1451=) rs1201941552
NM_015346.4(ZFYVE26):c.4372+16T>A
NM_015346.4(ZFYVE26):c.4372+17G>C
NM_015346.4(ZFYVE26):c.4372+17G>T
NM_015346.4(ZFYVE26):c.4373-14T>C
NM_015346.4(ZFYVE26):c.4373-15T>C
NM_015346.4(ZFYVE26):c.4373-17T>C
NM_015346.4(ZFYVE26):c.4373-23_4373-19del
NM_015346.4(ZFYVE26):c.4373-5T>C
NM_015346.4(ZFYVE26):c.4373-8T>C
NM_015346.4(ZFYVE26):c.4383T>C (p.Gly1461=)
NM_015346.4(ZFYVE26):c.4389A>G (p.Gln1463=)
NM_015346.4(ZFYVE26):c.438T>G (p.Thr146=) rs2140252542
NM_015346.4(ZFYVE26):c.4401C>A (p.Pro1467=) rs138543433
NM_015346.4(ZFYVE26):c.4413A>G (p.Ala1471=) rs2140220725
NM_015346.4(ZFYVE26):c.4428G>A (p.Arg1476=) rs144721227
NM_015346.4(ZFYVE26):c.4431G>A (p.Leu1477=) rs2140220699
NM_015346.4(ZFYVE26):c.4435C>T (p.Leu1479=) rs2140220687
NM_015346.4(ZFYVE26):c.4437A>G (p.Leu1479=)
NM_015346.4(ZFYVE26):c.4458C>T (p.Pro1486=) rs2140220635
NM_015346.4(ZFYVE26):c.4485C>G (p.Ala1495=) rs2140220589
NM_015346.4(ZFYVE26):c.450C>T (p.Ser150=) rs2140252520
NM_015346.4(ZFYVE26):c.4519C>T (p.Leu1507=) rs761565288
NM_015346.4(ZFYVE26):c.4521A>G (p.Leu1507=)
NM_015346.4(ZFYVE26):c.4531C>T (p.Leu1511=) rs1297799222
NM_015346.4(ZFYVE26):c.4539G>A (p.Arg1513=)
NM_015346.4(ZFYVE26):c.4545G>A (p.Leu1515=)
NM_015346.4(ZFYVE26):c.4569+10C>T
NM_015346.4(ZFYVE26):c.4569+12C>T
NM_015346.4(ZFYVE26):c.4569+13G>A
NM_015346.4(ZFYVE26):c.4569+14C>T
NM_015346.4(ZFYVE26):c.4569+15A>T rs778011742
NM_015346.4(ZFYVE26):c.4569+19A>C
NM_015346.4(ZFYVE26):c.4569+2_4569+6dup
NM_015346.4(ZFYVE26):c.4569+8C>T
NM_015346.4(ZFYVE26):c.4570-15C>G
NM_015346.4(ZFYVE26):c.4573C>T (p.Leu1525=) rs1400119280
NM_015346.4(ZFYVE26):c.4575G>A (p.Leu1525=)
NM_015346.4(ZFYVE26):c.4584G>A (p.Gln1528=)
NM_015346.4(ZFYVE26):c.4593A>G (p.Pro1531=) rs748595362
NM_015346.4(ZFYVE26):c.4614C>T (p.Thr1538=) rs2140218979
NM_015346.4(ZFYVE26):c.4629T>C (p.Cys1543=) rs2140218942
NM_015346.4(ZFYVE26):c.4650C>T (p.Val1550=)
NM_015346.4(ZFYVE26):c.4671A>G (p.Ala1557=) rs2039462410
NM_015346.4(ZFYVE26):c.4674+11C>T
NM_015346.4(ZFYVE26):c.4674+14G>T
NM_015346.4(ZFYVE26):c.4675-13T>C
NM_015346.4(ZFYVE26):c.4675-14G>A
NM_015346.4(ZFYVE26):c.4675-16G>A
NM_015346.4(ZFYVE26):c.4675-16G>T
NM_015346.4(ZFYVE26):c.4675-16GT[2]
NM_015346.4(ZFYVE26):c.4675-17T>C rs2140215938
NM_015346.4(ZFYVE26):c.4675-20G>T
NM_015346.4(ZFYVE26):c.4680T>C (p.Tyr1560=) rs752373172
NM_015346.4(ZFYVE26):c.4684C>T (p.Leu1562=) rs767423347
NM_015346.4(ZFYVE26):c.4686G>A (p.Leu1562=) rs998734784
NM_015346.4(ZFYVE26):c.4705C>T (p.Leu1569=)
NM_015346.4(ZFYVE26):c.4707G>A (p.Leu1569=) rs1383995740
NM_015346.4(ZFYVE26):c.4728T>C (p.His1576=)
NM_015346.4(ZFYVE26):c.4737C>T (p.Ser1579=)
NM_015346.4(ZFYVE26):c.4758C>G (p.Leu1586=)
NM_015346.4(ZFYVE26):c.4773A>G (p.Arg1591=)
NM_015346.4(ZFYVE26):c.4782T>C (p.His1594=) rs1269807196
NM_015346.4(ZFYVE26):c.4797+10C>T rs2140215619
NM_015346.4(ZFYVE26):c.4797+12G>T
NM_015346.4(ZFYVE26):c.4798-15A>G
NM_015346.4(ZFYVE26):c.4798-17C>T
NM_015346.4(ZFYVE26):c.4798-7A>G
NM_015346.4(ZFYVE26):c.4798-8G>T rs200338375
NM_015346.4(ZFYVE26):c.4798-9del rs2140215092
NM_015346.4(ZFYVE26):c.4801C>T (p.Leu1601=) rs139735970
NM_015346.4(ZFYVE26):c.4821C>A (p.Pro1607=)
NM_015346.4(ZFYVE26):c.4851C>A (p.Ser1617=) rs1370134275
NM_015346.4(ZFYVE26):c.4866T>C (p.Thr1622=)
NM_015346.4(ZFYVE26):c.4870T>C (p.Leu1624=) rs2140214930
NM_015346.4(ZFYVE26):c.4878T>A (p.Thr1626=) rs1246614183
NM_015346.4(ZFYVE26):c.4884C>T (p.His1628=) rs764247596
NM_015346.4(ZFYVE26):c.4893C>T (p.Ala1631=) rs2140214874
NM_015346.4(ZFYVE26):c.4905C>T (p.Thr1635=)
NM_015346.4(ZFYVE26):c.4908C>A (p.Thr1636=) rs2140214815
NM_015346.4(ZFYVE26):c.4911C>T (p.His1637=)
NM_015346.4(ZFYVE26):c.4914C>T (p.Phe1638=)
NM_015346.4(ZFYVE26):c.4917T>C (p.Tyr1639=)
NM_015346.4(ZFYVE26):c.4924C>T (p.Leu1642=)
NM_015346.4(ZFYVE26):c.4926G>A (p.Leu1642=) rs2039379085
NM_015346.4(ZFYVE26):c.4941C>T (p.His1647=)
NM_015346.4(ZFYVE26):c.4957C>T (p.Leu1653=) rs2140214728
NM_015346.4(ZFYVE26):c.4959G>T (p.Leu1653=)
NM_015346.4(ZFYVE26):c.495C>T (p.Pro165=)
NM_015346.4(ZFYVE26):c.4971C>T (p.Ser1657=)
NM_015346.4(ZFYVE26):c.4974+10C>T rs2039377291
NM_015346.4(ZFYVE26):c.4974+11A>G
NM_015346.4(ZFYVE26):c.4974+12C>A rs200969714
NM_015346.4(ZFYVE26):c.4974+13C>T
NM_015346.4(ZFYVE26):c.4974+14G>A
NM_015346.4(ZFYVE26):c.4974+8T>C rs2140214688
NM_015346.4(ZFYVE26):c.4974+8_4974+52del rs1566878435
NM_015346.4(ZFYVE26):c.4975-11C>T
NM_015346.4(ZFYVE26):c.4975-12C>T
NM_015346.4(ZFYVE26):c.4975-16T>C
NM_015346.4(ZFYVE26):c.4975-17A>C
NM_015346.4(ZFYVE26):c.4975-9C>T
NM_015346.4(ZFYVE26):c.4977T>C (p.Ile1659=)
NM_015346.4(ZFYVE26):c.4981C>T (p.Leu1661=) rs2039336220
NM_015346.4(ZFYVE26):c.4983G>A (p.Leu1661=)
NM_015346.4(ZFYVE26):c.4987C>T (p.Leu1663=)
NM_015346.4(ZFYVE26):c.4989G>A (p.Leu1663=)
NM_015346.4(ZFYVE26):c.4995G>A (p.Glu1665=) rs370349547
NM_015346.4(ZFYVE26):c.4998G>A (p.Gln1666=) rs781434610
NM_015346.4(ZFYVE26):c.5001C>T (p.His1667=) rs755177335
NM_015346.4(ZFYVE26):c.5034C>A (p.Pro1678=) rs1347309634
NM_015346.4(ZFYVE26):c.5035C>T (p.Leu1679=)
NM_015346.4(ZFYVE26):c.5055G>A (p.Leu1685=) rs1415834877
NM_015346.4(ZFYVE26):c.5073G>A (p.Val1691=) rs2140212459
NM_015346.4(ZFYVE26):c.5085T>A (p.Thr1695=)
NM_015346.4(ZFYVE26):c.5088G>A (p.Val1696=) rs2140212439
NM_015346.4(ZFYVE26):c.5106G>A (p.Gln1702=)
NM_015346.4(ZFYVE26):c.5109G>A (p.Gln1703=) rs2039330703
NM_015346.4(ZFYVE26):c.5112G>C (p.Leu1704=)
NM_015346.4(ZFYVE26):c.5133C>T (p.Gly1711=)
NM_015346.4(ZFYVE26):c.5139T>C (p.Thr1713=)
NM_015346.4(ZFYVE26):c.5145C>T (p.Asp1715=) rs371086321
NM_015346.4(ZFYVE26):c.5148G>A (p.Glu1716=) rs2039329049
NM_015346.4(ZFYVE26):c.5157A>T (p.Ser1719=) rs2039328888
NM_015346.4(ZFYVE26):c.5158C>T (p.Leu1720=)
NM_015346.4(ZFYVE26):c.5160G>A (p.Leu1720=)
NM_015346.4(ZFYVE26):c.5160G>C (p.Leu1720=)
NM_015346.4(ZFYVE26):c.5178G>A (p.Glu1726=) rs1594904968
NM_015346.4(ZFYVE26):c.5205G>A (p.Gln1735=)
NM_015346.4(ZFYVE26):c.5208G>A (p.Arg1736=)
NM_015346.4(ZFYVE26):c.5216G>T (p.Arg1739Leu) rs201566214
NM_015346.4(ZFYVE26):c.5221+11G>C
NM_015346.4(ZFYVE26):c.5221+12C>A
NM_015346.4(ZFYVE26):c.5221+14T>C
NM_015346.4(ZFYVE26):c.5221+8C>G
NM_015346.4(ZFYVE26):c.5222-10C>T
NM_015346.4(ZFYVE26):c.5222-10CT[2] rs2140211210
NM_015346.4(ZFYVE26):c.5222-11C>T
NM_015346.4(ZFYVE26):c.5222-8C>G rs765966529
NM_015346.4(ZFYVE26):c.5241A>G (p.Gln1747=)
NM_015346.4(ZFYVE26):c.5250C>T (p.Val1750=)
NM_015346.4(ZFYVE26):c.5268C>G (p.Pro1756=) rs757534059
NM_015346.4(ZFYVE26):c.5274C>T (p.Thr1758=)
NM_015346.4(ZFYVE26):c.5277C>T (p.Leu1759=) rs1445950496
NM_015346.4(ZFYVE26):c.5280T>C (p.Pro1760=) rs2140211091
NM_015346.4(ZFYVE26):c.528T>C (p.Leu176=) rs2040215930
NM_015346.4(ZFYVE26):c.5292A>G (p.Ser1764=) rs2140211078
NM_015346.4(ZFYVE26):c.5304T>G (p.Ser1768=)
NM_015346.4(ZFYVE26):c.5313T>C (p.Ala1771=) rs2140211044
NM_015346.4(ZFYVE26):c.531G>A (p.Glu177=)
NM_015346.4(ZFYVE26):c.5320+10G>A rs2140211014
NM_015346.4(ZFYVE26):c.5320+18T>G rs2039303079
NM_015346.4(ZFYVE26):c.5320+20A>T
NM_015346.4(ZFYVE26):c.5321-20C>T
NM_015346.4(ZFYVE26):c.5321-5C>T rs2039230277
NM_015346.4(ZFYVE26):c.5321-9G>T rs1310234849
NM_015346.4(ZFYVE26):c.5328C>G (p.Ser1776=)
NM_015346.4(ZFYVE26):c.5337T>C (p.His1779=) rs2039229226
NM_015346.4(ZFYVE26):c.5343T>C (p.Pro1781=) rs753507251
NM_015346.4(ZFYVE26):c.5346T>C (p.Ser1782=)
NM_015346.4(ZFYVE26):c.534G>A (p.Glu178=)
NM_015346.4(ZFYVE26):c.5373C>T (p.Thr1791=) rs2039227977
NM_015346.4(ZFYVE26):c.5388A>G (p.Glu1796=) rs2140207503
NM_015346.4(ZFYVE26):c.5394G>A (p.Val1798=) rs1594900989
NM_015346.4(ZFYVE26):c.5403G>A (p.Ala1801=) rs369952104
NM_015346.4(ZFYVE26):c.5403G>C (p.Ala1801=) rs369952104
NM_015346.4(ZFYVE26):c.5412T>C (p.Pro1804=) rs2140207447
NM_015346.4(ZFYVE26):c.5418G>A (p.Arg1806=)
NM_015346.4(ZFYVE26):c.5421C>T (p.His1807=) rs2140207428
NM_015346.4(ZFYVE26):c.5472G>A (p.Glu1824=)
NM_015346.4(ZFYVE26):c.5481C>G (p.Thr1827=)
NM_015346.4(ZFYVE26):c.5484+8G>A rs2140207258
NM_015346.4(ZFYVE26):c.5484+9del rs2140207255
NM_015346.4(ZFYVE26):c.5485-10C>T
NM_015346.4(ZFYVE26):c.5485-11G>T
NM_015346.4(ZFYVE26):c.5485-13T>C
NM_015346.4(ZFYVE26):c.5485-16T>G
NM_015346.4(ZFYVE26):c.5485-18C>T
NM_015346.4(ZFYVE26):c.5485-18_5485-16del
NM_015346.4(ZFYVE26):c.5485-9A>G rs1322405066
NM_015346.4(ZFYVE26):c.5490C>T (p.Asn1830=)
NM_015346.4(ZFYVE26):c.54A>G (p.Gly18=)
NM_015346.4(ZFYVE26):c.5502T>C (p.His1834=)
NM_015346.4(ZFYVE26):c.5514T>C (p.Cys1838=)
NM_015346.4(ZFYVE26):c.5526G>A (p.Val1842=)
NM_015346.4(ZFYVE26):c.5526G>T (p.Val1842=)
NM_015346.4(ZFYVE26):c.552C>G (p.Leu184=)
NM_015346.4(ZFYVE26):c.5538C>T (p.Cys1846=)
NM_015346.4(ZFYVE26):c.5565C>A (p.Gly1855=) rs2140203977
NM_015346.4(ZFYVE26):c.5571A>G (p.Arg1857=)
NM_015346.4(ZFYVE26):c.5577C>T (p.Asn1859=)
NM_015346.4(ZFYVE26):c.5610C>T (p.Tyr1870=) rs2140203904
NM_015346.4(ZFYVE26):c.5621+10del rs1476329218
NM_015346.4(ZFYVE26):c.5621+19G>A
NM_015346.4(ZFYVE26):c.5621+20G>A
NM_015346.4(ZFYVE26):c.5621+9C>T
NM_015346.4(ZFYVE26):c.5622-10C>G
NM_015346.4(ZFYVE26):c.5622-10C>T
NM_015346.4(ZFYVE26):c.5622-10_5622-9del rs768978705
NM_015346.4(ZFYVE26):c.5622-15T>C rs2140202504
NM_015346.4(ZFYVE26):c.5622-16C>A
NM_015346.4(ZFYVE26):c.5622-8G>C rs768215819
NM_015346.4(ZFYVE26):c.5625A>G (p.Val1875=)
NM_015346.4(ZFYVE26):c.5628A>G (p.Pro1876=) rs2140202467
NM_015346.4(ZFYVE26):c.5634G>A (p.Glu1878=)
NM_015346.4(ZFYVE26):c.5653+13C>A
NM_015346.4(ZFYVE26):c.5653+15C>T
NM_015346.4(ZFYVE26):c.5653+18_5653+24del
NM_015346.4(ZFYVE26):c.5653+7C>T
NM_015346.4(ZFYVE26):c.5654-10C>T rs183559101
NM_015346.4(ZFYVE26):c.5654-14A>G
NM_015346.4(ZFYVE26):c.5654-16G>A
NM_015346.4(ZFYVE26):c.5654-19A>G
NM_015346.4(ZFYVE26):c.5654-5C>G
NM_015346.4(ZFYVE26):c.5664C>T (p.Ser1888=) rs2140201479
NM_015346.4(ZFYVE26):c.567G>A (p.Leu189=)
NM_015346.4(ZFYVE26):c.5682T>C (p.Pro1894=) rs756277394
NM_015346.4(ZFYVE26):c.5685A>G (p.Pro1895=)
NM_015346.4(ZFYVE26):c.5685A>T (p.Pro1895=) rs1176271187
NM_015346.4(ZFYVE26):c.5688C>T (p.Tyr1896=) rs2140201384
NM_015346.4(ZFYVE26):c.5706C>T (p.Val1902=) rs1251746638
NM_015346.4(ZFYVE26):c.570G>A (p.Gln190=) rs2140252389
NM_015346.4(ZFYVE26):c.5715A>C (p.Ala1905=) rs952424390
NM_015346.4(ZFYVE26):c.5721G>A (p.Glu1907=)
NM_015346.4(ZFYVE26):c.5724G>A (p.Val1908=)
NM_015346.4(ZFYVE26):c.5727A>G (p.Glu1909=)
NM_015346.4(ZFYVE26):c.5736G>A (p.Leu1912=)
NM_015346.4(ZFYVE26):c.573T>C (p.Asn191=)
NM_015346.4(ZFYVE26):c.5745A>G (p.Lys1915=)
NM_015346.4(ZFYVE26):c.5748G>A (p.Glu1916=)
NM_015346.4(ZFYVE26):c.5760G>A (p.Glu1920=)
NM_015346.4(ZFYVE26):c.5763G>T (p.Leu1921=)
NM_015346.4(ZFYVE26):c.5766G>C (p.Val1922=) rs545330467
NM_015346.4(ZFYVE26):c.5790+10A>G rs2140201158
NM_015346.4(ZFYVE26):c.5790+11T>A
NM_015346.4(ZFYVE26):c.5790+12A>G
NM_015346.4(ZFYVE26):c.5790+17G>A
NM_015346.4(ZFYVE26):c.5790+8C>T
NM_015346.4(ZFYVE26):c.5791-12C>T
NM_015346.4(ZFYVE26):c.5791-19C>T
NM_015346.4(ZFYVE26):c.5796C>T (p.Pro1932=) rs2039062513
NM_015346.4(ZFYVE26):c.5802C>T (p.Ala1934=)
NM_015346.4(ZFYVE26):c.582G>A (p.Val194=)
NM_015346.4(ZFYVE26):c.5850T>C (p.Cys1950=)
NM_015346.4(ZFYVE26):c.5856C>T (p.His1952=)
NM_015346.4(ZFYVE26):c.5868G>A (p.Glu1956=)
NM_015346.4(ZFYVE26):c.5871C>T (p.His1957=)
NM_015346.4(ZFYVE26):c.5880G>A (p.Arg1960=) rs751183425
NM_015346.4(ZFYVE26):c.5883C>G (p.Leu1961=)
NM_015346.4(ZFYVE26):c.5892C>A (p.Gly1964=) rs2140199446
NM_015346.4(ZFYVE26):c.5895C>T (p.Leu1965=) rs762608099
NM_015346.4(ZFYVE26):c.5910G>A (p.Val1970=)
NM_015346.4(ZFYVE26):c.5919G>A (p.Gly1973=) rs1184250373
NM_015346.4(ZFYVE26):c.5925C>A (p.Leu1975=) rs775830817
NM_015346.4(ZFYVE26):c.5925C>T (p.Leu1975=)
NM_015346.4(ZFYVE26):c.5940G>A (p.Lys1980=) rs1234092198
NM_015346.4(ZFYVE26):c.5949G>A (p.Leu1983=)
NM_015346.4(ZFYVE26):c.5973C>G (p.Val1991=)
NM_015346.4(ZFYVE26):c.597G>A (p.Lys199=) rs864622623
NM_015346.4(ZFYVE26):c.5982C>A (p.Gly1994=)
NM_015346.4(ZFYVE26):c.6011+12T>A
NM_015346.4(ZFYVE26):c.6011+12T>C
NM_015346.4(ZFYVE26):c.6011+14G>C
NM_015346.4(ZFYVE26):c.6011+8G>A rs552742329
NM_015346.4(ZFYVE26):c.6012-17C>T
NM_015346.4(ZFYVE26):c.6012-18C>T
NM_015346.4(ZFYVE26):c.6012-20T>A
NM_015346.4(ZFYVE26):c.6012-20T>C
NM_015346.4(ZFYVE26):c.6012-6T>G
NM_015346.4(ZFYVE26):c.6015C>T (p.Tyr2005=)
NM_015346.4(ZFYVE26):c.6024G>A (p.Lys2008=)
NM_015346.4(ZFYVE26):c.6027A>G (p.Val2009=)
NM_015346.4(ZFYVE26):c.6030T>C (p.Asp2010=) rs1449335899
NM_015346.4(ZFYVE26):c.6072A>G (p.Pro2024=)
NM_015346.4(ZFYVE26):c.6087C>A (p.Ile2029=) rs2140194744
NM_015346.4(ZFYVE26):c.6087C>T (p.Ile2029=)
NM_015346.4(ZFYVE26):c.609T>C (p.Ala203=) rs1295871755
NM_015346.4(ZFYVE26):c.60C>T (p.Phe20=) rs1204242252
NM_015346.4(ZFYVE26):c.6108C>G (p.Thr2036=)
NM_015346.4(ZFYVE26):c.6108C>T (p.Thr2036=)
NM_015346.4(ZFYVE26):c.610T>C (p.Leu204=)
NM_015346.4(ZFYVE26):c.612G>A (p.Leu204=) rs2140252317
NM_015346.4(ZFYVE26):c.6159+17G>A
NM_015346.4(ZFYVE26):c.6159+6ACAAAG[2] rs753320665
NM_015346.4(ZFYVE26):c.6159+7C>G rs202096428
NM_015346.4(ZFYVE26):c.6160-16G>T
NM_015346.4(ZFYVE26):c.6160-5C>T rs1594892467
NM_015346.4(ZFYVE26):c.6160-9T>G rs2140194344
NM_015346.4(ZFYVE26):c.6174T>C (p.Thr2058=)
NM_015346.4(ZFYVE26):c.6204T>C (p.Ala2068=)
NM_015346.4(ZFYVE26):c.6216C>G (p.Ala2072=)
NM_015346.4(ZFYVE26):c.621T>A (p.Pro207=) rs144303642
NM_015346.4(ZFYVE26):c.6228C>T (p.Ala2076=) rs762113501
NM_015346.4(ZFYVE26):c.6231G>A (p.Gly2077=) rs2140194176
NM_015346.4(ZFYVE26):c.6234C>T (p.Asn2078=) rs2038955123
NM_015346.4(ZFYVE26):c.6246A>G (p.Ala2082=)
NM_015346.4(ZFYVE26):c.6247C>A (p.Arg2083=)
NM_015346.4(ZFYVE26):c.6264C>T (p.Arg2088=) rs2140194116
NM_015346.4(ZFYVE26):c.6273G>A (p.Lys2091=) rs2140194105
NM_015346.4(ZFYVE26):c.627G>A (p.Ser209=)
NM_015346.4(ZFYVE26):c.6303T>C (p.His2101=)
NM_015346.4(ZFYVE26):c.630G>C (p.Val210=)
NM_015346.4(ZFYVE26):c.630G>T (p.Val210=) rs769763847
NM_015346.4(ZFYVE26):c.6312G>A (p.Arg2104=)
NM_015346.4(ZFYVE26):c.6315G>C (p.Leu2105=)
NM_015346.4(ZFYVE26):c.6321G>A (p.Gln2107=)
NM_015346.4(ZFYVE26):c.6337C>T (p.Leu2113=) rs1321167326
NM_015346.4(ZFYVE26):c.6339A>C (p.Leu2113=) rs764363798
NM_015346.4(ZFYVE26):c.633C>T (p.Pro211=) rs2140252265
NM_015346.4(ZFYVE26):c.6345C>A (p.Ser2115=) rs201210376
NM_015346.4(ZFYVE26):c.6348A>C (p.Thr2116=)
NM_015346.4(ZFYVE26):c.6354G>A (p.Arg2118=) rs943216054
NM_015346.4(ZFYVE26):c.6357C>T (p.Pro2119=)
NM_015346.4(ZFYVE26):c.6360T>C (p.Phe2120=)
NM_015346.4(ZFYVE26):c.6363A>G (p.Val2121=)
NM_015346.4(ZFYVE26):c.6363A>T (p.Val2121=)
NM_015346.4(ZFYVE26):c.6366C>G (p.Ser2122=) rs2140193926
NM_015346.4(ZFYVE26):c.6369+11G>A
NM_015346.4(ZFYVE26):c.6369+12G>T
NM_015346.4(ZFYVE26):c.6369+16G>A
NM_015346.4(ZFYVE26):c.6369+17A>G
NM_015346.4(ZFYVE26):c.6369+19G>T
NM_015346.4(ZFYVE26):c.6369+20A>G
NM_015346.4(ZFYVE26):c.6369+7G>T
NM_015346.4(ZFYVE26):c.6369+8C>T
NM_015346.4(ZFYVE26):c.6369+9A>G
NM_015346.4(ZFYVE26):c.6370-10G>A
NM_015346.4(ZFYVE26):c.6370-13C>T
NM_015346.4(ZFYVE26):c.6370-17G>A
NM_015346.4(ZFYVE26):c.6370-17G>C
NM_015346.4(ZFYVE26):c.6370-18C>T
NM_015346.4(ZFYVE26):c.6370-20C>G
NM_015346.4(ZFYVE26):c.6370-20C>T
NM_015346.4(ZFYVE26):c.6370-25TC[2] rs751474117
NM_015346.4(ZFYVE26):c.6370-7C>A
NM_015346.4(ZFYVE26):c.6370-7C>T
NM_015346.4(ZFYVE26):c.6370-8G>A
NM_015346.4(ZFYVE26):c.63C>T (p.Cys21=)
NM_015346.4(ZFYVE26):c.6411T>C (p.Ala2137=) rs2140192916
NM_015346.4(ZFYVE26):c.6414C>G (p.Thr2138=) rs2038929960
NM_015346.4(ZFYVE26):c.6423G>T (p.Thr2141=)
NM_015346.4(ZFYVE26):c.6435T>C (p.Ser2145=)
NM_015346.4(ZFYVE26):c.6441A>C (p.Ala2147=)
NM_015346.4(ZFYVE26):c.6450T>C (p.Pro2150=)
NM_015346.4(ZFYVE26):c.645C>A (p.Val215=) rs768758681
NM_015346.4(ZFYVE26):c.645C>T (p.Val215=) rs768758681
NM_015346.4(ZFYVE26):c.6495C>T (p.Phe2165=)
NM_015346.4(ZFYVE26):c.6498C>T (p.Tyr2166=)
NM_015346.4(ZFYVE26):c.6499C>T (p.Leu2167=) rs2140192777
NM_015346.4(ZFYVE26):c.6501G>A (p.Leu2167=) rs2140192767
NM_015346.4(ZFYVE26):c.6520C>T (p.Leu2174=)
NM_015346.4(ZFYVE26):c.6522G>T (p.Leu2174=)
NM_015346.4(ZFYVE26):c.6525C>T (p.Ala2175=)
NM_015346.4(ZFYVE26):c.6540C>T (p.Tyr2180=) rs142224979
NM_015346.4(ZFYVE26):c.6549C>T (p.His2183=)
NM_015346.4(ZFYVE26):c.6570T>C (p.Leu2190=) rs1566867638
NM_015346.4(ZFYVE26):c.6571C>T (p.Leu2191=)
NM_015346.4(ZFYVE26):c.6573G>A (p.Leu2191=)
NM_015346.4(ZFYVE26):c.6573G>T (p.Leu2191=)
NM_015346.4(ZFYVE26):c.6588+12A>T
NM_015346.4(ZFYVE26):c.6588+15C>T
NM_015346.4(ZFYVE26):c.6588+8A>G
NM_015346.4(ZFYVE26):c.6588+9T>C
NM_015346.4(ZFYVE26):c.6589-15C>A
NM_015346.4(ZFYVE26):c.6589-17G>T
NM_015346.4(ZFYVE26):c.6589-3del rs1317757501
NM_015346.4(ZFYVE26):c.6589-4C>A rs2140185599
NM_015346.4(ZFYVE26):c.6589-9C>T
NM_015346.4(ZFYVE26):c.6589-9del rs2140185603
NM_015346.4(ZFYVE26):c.6591G>A (p.Glu2197=)
NM_015346.4(ZFYVE26):c.6600A>G (p.Pro2200=) rs750354943
NM_015346.4(ZFYVE26):c.6603A>G (p.Glu2201=) rs2140185567
NM_015346.4(ZFYVE26):c.6618C>G (p.Gly2206=) rs2038772797
NM_015346.4(ZFYVE26):c.6649C>T (p.Leu2217=) rs149104493
NM_015346.4(ZFYVE26):c.6672A>C (p.Leu2224=)
NM_015346.4(ZFYVE26):c.6672A>G (p.Leu2224=) rs2038770810
NM_015346.4(ZFYVE26):c.6675A>G (p.Glu2225=)
NM_015346.4(ZFYVE26):c.6684T>C (p.Asp2228=)
NM_015346.4(ZFYVE26):c.6690C>T (p.Thr2230=)
NM_015346.4(ZFYVE26):c.6696G>A (p.Glu2232=)
NM_015346.4(ZFYVE26):c.6711C>T (p.Tyr2237=) rs2140185423
NM_015346.4(ZFYVE26):c.6717T>C (p.Ile2239=)
NM_015346.4(ZFYVE26):c.6720T>C (p.Ala2240=)
NM_015346.4(ZFYVE26):c.6750C>T (p.Tyr2250=)
NM_015346.4(ZFYVE26):c.6756C>T (p.His2252=)
NM_015346.4(ZFYVE26):c.6759T>A (p.Ile2253=)
NM_015346.4(ZFYVE26):c.675G>A (p.Leu225=)
NM_015346.4(ZFYVE26):c.6786+17C>T rs1208263522
NM_015346.4(ZFYVE26):c.6786+7G>T rs2140185324
NM_015346.4(ZFYVE26):c.6786+8C>T
NM_015346.4(ZFYVE26):c.6787-10C>T rs773751383
NM_015346.4(ZFYVE26):c.6787-12T>G
NM_015346.4(ZFYVE26):c.6787-16del
NM_015346.4(ZFYVE26):c.6787-19A>G
NM_015346.4(ZFYVE26):c.6787-20C>G
NM_015346.4(ZFYVE26):c.6787-4C>T
NM_015346.4(ZFYVE26):c.6787-7C>T
NM_015346.4(ZFYVE26):c.6787-8T>A rs1488472618
NM_015346.4(ZFYVE26):c.6796C>A (p.Arg2266=)
NM_015346.4(ZFYVE26):c.6810C>T (p.Thr2270=) rs1594885252
NM_015346.4(ZFYVE26):c.6825C>T (p.Phe2275=)
NM_015346.4(ZFYVE26):c.6840G>A (p.Lys2280=)
NM_015346.4(ZFYVE26):c.684C>G (p.Pro228=)
NM_015346.4(ZFYVE26):c.6852A>G (p.Glu2284=) rs371472465
NM_015346.4(ZFYVE26):c.6853C>T (p.Leu2285=)
NM_015346.4(ZFYVE26):c.6867C>G (p.Leu2289=) rs2140184437
NM_015346.4(ZFYVE26):c.6867C>T (p.Leu2289=)
NM_015346.4(ZFYVE26):c.6891C>T (p.Asp2297=)
NM_015346.4(ZFYVE26):c.6897G>A (p.Leu2299=) rs2140184412
NM_015346.4(ZFYVE26):c.6906C>T (p.Tyr2302=) rs2140184390
NM_015346.4(ZFYVE26):c.6909C>G (p.Leu2303=)
NM_015346.4(ZFYVE26):c.6912A>G (p.Gln2304=)
NM_015346.4(ZFYVE26):c.6921C>A (p.Ser2307=) rs35917338
NM_015346.4(ZFYVE26):c.6945C>T (p.Thr2315=)
NM_015346.4(ZFYVE26):c.6948A>G (p.Thr2316=)
NM_015346.4(ZFYVE26):c.6969T>A (p.Thr2323=) rs1174882204
NM_015346.4(ZFYVE26):c.6969T>C (p.Thr2323=) rs1174882204
NM_015346.4(ZFYVE26):c.6978T>C (p.Asp2326=)
NM_015346.4(ZFYVE26):c.6986+11G>A
NM_015346.4(ZFYVE26):c.6986+11G>T
NM_015346.4(ZFYVE26):c.6986+14C>T
NM_015346.4(ZFYVE26):c.6986+15A>C rs2038742066
NM_015346.4(ZFYVE26):c.6986+19G>A
NM_015346.4(ZFYVE26):c.6986+7G>A
NM_015346.4(ZFYVE26):c.6987-10G>A rs2140183238
NM_015346.4(ZFYVE26):c.6987-17A>G
NM_015346.4(ZFYVE26):c.6987-18C>T
NM_015346.4(ZFYVE26):c.6987-19G>A
NM_015346.4(ZFYVE26):c.6987-5_6987-3del rs2140183228
NM_015346.4(ZFYVE26):c.6996C>T (p.Asn2332=) rs2140183214
NM_015346.4(ZFYVE26):c.699G>A (p.Gly233=)
NM_015346.4(ZFYVE26):c.7006C>T (p.Leu2336=) rs2140183207
NM_015346.4(ZFYVE26):c.7023C>T (p.Thr2341=) rs2140183180
NM_015346.4(ZFYVE26):c.7026G>A (p.Arg2342=)
NM_015346.4(ZFYVE26):c.7068C>G (p.Thr2356=) rs2140183093
NM_015346.4(ZFYVE26):c.706T>C (p.Leu236=) rs749763709
NM_015346.4(ZFYVE26):c.708G>A (p.Leu236=) rs1453400592
NM_015346.4(ZFYVE26):c.7098T>C (p.Asn2366=) rs2140183042
NM_015346.4(ZFYVE26):c.7128+10G>A rs2140182981
NM_015346.4(ZFYVE26):c.7128+11C>T
NM_015346.4(ZFYVE26):c.7128+18G>C
NM_015346.4(ZFYVE26):c.7128+7G>A rs2038714864
NM_015346.4(ZFYVE26):c.7128+9A>G rs2140182986
NM_015346.4(ZFYVE26):c.7128+9del rs775734318
NM_015346.4(ZFYVE26):c.7129-13C>G
NM_015346.4(ZFYVE26):c.7129-20T>C
NM_015346.4(ZFYVE26):c.7129-8C>A rs530282754
NM_015346.4(ZFYVE26):c.7129-9C>T rs2140182683
NM_015346.4(ZFYVE26):c.7143G>A (p.Gly2381=) rs1555393351
NM_015346.4(ZFYVE26):c.7149T>C (p.Asn2383=) rs2140182629
NM_015346.4(ZFYVE26):c.7152A>G (p.Val2384=)
NM_015346.4(ZFYVE26):c.715C>T (p.Leu239=)
NM_015346.4(ZFYVE26):c.7176C>T (p.Phe2392=)
NM_015346.4(ZFYVE26):c.717G>C (p.Leu239=)
NM_015346.4(ZFYVE26):c.7188+10G>A rs551275325
NM_015346.4(ZFYVE26):c.7188+18C>G
NM_015346.4(ZFYVE26):c.7188+20A>G
NM_015346.4(ZFYVE26):c.7189-15_7189-13del
NM_015346.4(ZFYVE26):c.7189-16T>C
NM_015346.4(ZFYVE26):c.7189-17G>A
NM_015346.4(ZFYVE26):c.7189-20C>T
NM_015346.4(ZFYVE26):c.7189-4C>T
NM_015346.4(ZFYVE26):c.7189-8T>C rs2140181265
NM_015346.4(ZFYVE26):c.7189-9C>T
NM_015346.4(ZFYVE26):c.7194C>T (p.Phe2398=)
NM_015346.4(ZFYVE26):c.7197G>A (p.Gln2399=)
NM_015346.4(ZFYVE26):c.7203T>C (p.Asp2401=) rs1298744574
NM_015346.4(ZFYVE26):c.7218C>T (p.Tyr2406=)
NM_015346.4(ZFYVE26):c.7237T>C (p.Leu2413=) rs1015804374
NM_015346.4(ZFYVE26):c.723G>A (p.Glu241=)
NM_015346.4(ZFYVE26):c.7257C>T (p.Tyr2419=) rs2038674088
NM_015346.4(ZFYVE26):c.7269G>A (p.Gln2423=)
NM_015346.4(ZFYVE26):c.726A>G (p.Glu242=) rs779486028
NM_015346.4(ZFYVE26):c.7275G>A (p.Leu2425=)
NM_015346.4(ZFYVE26):c.7278C>T (p.Leu2426=)
NM_015346.4(ZFYVE26):c.7296A>G (p.Ser2432=) rs2140181125
NM_015346.4(ZFYVE26):c.7305A>T (p.Ala2435=)
NM_015346.4(ZFYVE26):c.7308C>T (p.Ala2436=) rs2140181108
NM_015346.4(ZFYVE26):c.7326C>A (p.Thr2442=)
NM_015346.4(ZFYVE26):c.7326C>T (p.Thr2442=) rs2140181083
NM_015346.4(ZFYVE26):c.7338C>T (p.Asn2446=)
NM_015346.4(ZFYVE26):c.7342C>T (p.Leu2448=)
NM_015346.4(ZFYVE26):c.7350G>A (p.Ala2450=) rs370775301
NM_015346.4(ZFYVE26):c.7350G>T (p.Ala2450=) rs370775301
NM_015346.4(ZFYVE26):c.735G>A (p.Glu245=) rs1211630732
NM_015346.4(ZFYVE26):c.7368C>T (p.Pro2456=)
NM_015346.4(ZFYVE26):c.7371+10C>T rs2140180981
NM_015346.4(ZFYVE26):c.7371+10del rs2038669898
NM_015346.4(ZFYVE26):c.7371+15G>C
NM_015346.4(ZFYVE26):c.7371+17A>C
NM_015346.4(ZFYVE26):c.7371+17A>G
NM_015346.4(ZFYVE26):c.7371+9C>A rs2140180990
NM_015346.4(ZFYVE26):c.7372-11G>C
NM_015346.4(ZFYVE26):c.7372-16T>C
NM_015346.4(ZFYVE26):c.7372-17G>A
NM_015346.4(ZFYVE26):c.7372-18T>C
NM_015346.4(ZFYVE26):c.7372-7T>C
NM_015346.4(ZFYVE26):c.7372-7T>G
NM_015346.4(ZFYVE26):c.7372-8C>G rs1320337326
NM_015346.4(ZFYVE26):c.7372-8C>T
NM_015346.4(ZFYVE26):c.7372-9T>C rs2140179372
NM_015346.4(ZFYVE26):c.7389C>A (p.Ile2463=)
NM_015346.4(ZFYVE26):c.73C>A (p.Arg25=) rs1382306389
NM_015346.4(ZFYVE26):c.7404T>C (p.Asn2468=) rs2140179292
NM_015346.4(ZFYVE26):c.7416+7G>T
NM_015346.4(ZFYVE26):c.7417-10T>C rs2140176327
NM_015346.4(ZFYVE26):c.7417-17_7417-16del
NM_015346.4(ZFYVE26):c.7417-20C>G
NM_015346.4(ZFYVE26):c.7417-3del rs780878664
NM_015346.4(ZFYVE26):c.7417-6T>C rs2140176319
NM_015346.4(ZFYVE26):c.742A>C (p.Arg248=)
NM_015346.4(ZFYVE26):c.7431G>A (p.Leu2477=) rs1321416471
NM_015346.4(ZFYVE26):c.7431G>T (p.Leu2477=)
NM_015346.4(ZFYVE26):c.7440C>T (p.Cys2480=) rs2140176257
NM_015346.4(ZFYVE26):c.7470G>A (p.Val2490=) rs2038550239
NM_015346.4(ZFYVE26):c.747C>G (p.Thr249=) rs543334038
NM_015346.4(ZFYVE26):c.7482C>T (p.His2494=) rs2038549750
NM_015346.4(ZFYVE26):c.7497C>T (p.Ala2499=)
NM_015346.4(ZFYVE26):c.7503C>G (p.Val2501=) rs1594878153
NM_015346.4(ZFYVE26):c.7506G>A (p.Gln2502=) rs2140176180
NM_015346.4(ZFYVE26):c.7512G>T (p.Val2504=)
NM_015346.4(ZFYVE26):c.7518G>A (p.Gln2506=)
NM_015346.4(ZFYVE26):c.753G>A (p.Gly251=)
NM_015346.4(ZFYVE26):c.7545A>C (p.Val2515=) rs2140176106
NM_015346.4(ZFYVE26):c.7548G>A (p.Val2516=) rs986052059
NM_015346.4(ZFYVE26):c.7554C>T (p.Asp2518=) rs1449957510
NM_015346.4(ZFYVE26):c.7557C>T (p.Ile2519=)
NM_015346.4(ZFYVE26):c.7590G>T (p.Arg2530=)
NM_015346.4(ZFYVE26):c.7608C>T (p.Gly2536=) rs748003139
NM_015346.4(ZFYVE26):c.7611C>T (p.Ser2537=)
NM_015346.4(ZFYVE26):c.7619G>A (p.Ter2540=)
NM_015346.4(ZFYVE26):c.763C>A (p.Arg255=) rs267604034
NM_015346.4(ZFYVE26):c.76A>C (p.Arg26=) rs2140260952
NM_015346.4(ZFYVE26):c.780C>T (p.Leu260=)
NM_015346.4(ZFYVE26):c.786C>T (p.Cys262=)
NM_015346.4(ZFYVE26):c.78G>A (p.Arg26=) rs2140260949
NM_015346.4(ZFYVE26):c.807G>A (p.Arg269=) rs1418365648
NM_015346.4(ZFYVE26):c.810C>T (p.Gly270=)
NM_015346.4(ZFYVE26):c.814C>T (p.Leu272=)
NM_015346.4(ZFYVE26):c.816G>A (p.Leu272=) rs1186294289
NM_015346.4(ZFYVE26):c.816G>C (p.Leu272=) rs1186294289
NM_015346.4(ZFYVE26):c.816G>T (p.Leu272=)
NM_015346.4(ZFYVE26):c.820C>T (p.Leu274=) rs926830329
NM_015346.4(ZFYVE26):c.831T>C (p.His277=)
NM_015346.4(ZFYVE26):c.837T>C (p.Tyr279=) rs1594938339
NM_015346.4(ZFYVE26):c.846G>A (p.Lys282=)
NM_015346.4(ZFYVE26):c.84A>G (p.Glu28=) rs2140260927
NM_015346.4(ZFYVE26):c.870T>A (p.Ala290=) rs2140251854
NM_015346.4(ZFYVE26):c.876C>T (p.Ala292=) rs1164686507
NM_015346.4(ZFYVE26):c.886+18C>T rs2140251804
NM_015346.4(ZFYVE26):c.886+20G>T
NM_015346.4(ZFYVE26):c.886+8C>A rs2140251809
NM_015346.4(ZFYVE26):c.887-10T>C rs1429296619
NM_015346.4(ZFYVE26):c.887-15T>C
NM_015346.4(ZFYVE26):c.887-19C>A
NM_015346.4(ZFYVE26):c.887-19C>G
NM_015346.4(ZFYVE26):c.887-19C>T
NM_015346.4(ZFYVE26):c.887-20C>T
NM_015346.4(ZFYVE26):c.887-4T>G rs2140251127
NM_015346.4(ZFYVE26):c.887-6G>A rs2140251133
NM_015346.4(ZFYVE26):c.888C>T (p.Val296=)
NM_015346.4(ZFYVE26):c.906T>C (p.Asp302=) rs930318136
NM_015346.4(ZFYVE26):c.91C>T (p.Leu31=)
NM_015346.4(ZFYVE26):c.933C>T (p.Phe311=)
NM_015346.4(ZFYVE26):c.93G>A (p.Leu31=)
NM_015346.4(ZFYVE26):c.942C>T (p.Pro314=)
NM_015346.4(ZFYVE26):c.969C>T (p.Ala323=) rs2140250995
NM_015346.4(ZFYVE26):c.984G>T (p.Leu328=) rs2140250979
NM_015346.4(ZFYVE26):c.993C>T (p.Asn331=) rs2040184164
NM_015346.4(ZFYVE26):c.996A>G (p.Lys332=)
NM_020435.4(GJC2):c.1035G>C (p.Ala345=)
NM_020435.4(GJC2):c.1050G>A (p.Leu350=)
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020435.4(GJC2):c.1092T>A (p.Ala364=)
NM_020435.4(GJC2):c.1122C>T (p.Cys374=)
NM_020435.4(GJC2):c.1125C>T (p.Val375=)
NM_020435.4(GJC2):c.1128C>A (p.Gly376=)
NM_020435.4(GJC2):c.1149G>C (p.Gly383=)
NM_020435.4(GJC2):c.117G>C (p.Thr39=) rs768549431
NM_020435.4(GJC2):c.1191T>A (p.Ala397=)
NM_020435.4(GJC2):c.126C>T (p.Gly42=)
NM_020435.4(GJC2):c.175C>A (p.Arg59=)
NM_020435.4(GJC2):c.177G>T (p.Arg59=)
NM_020435.4(GJC2):c.27G>C (p.Leu9=) rs761457231
NM_020435.4(GJC2):c.282C>T (p.Tyr94=)
NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=)
NM_020435.4(GJC2):c.357G>T (p.Gly119=)
NM_020435.4(GJC2):c.363C>G (p.Arg121=)
NM_020435.4(GJC2):c.372C>G (p.Pro124=)
NM_020435.4(GJC2):c.373C>A (p.Arg125=)
NM_020435.4(GJC2):c.393G>A (p.Pro131=)
NM_020435.4(GJC2):c.417C>G (p.Ala139=) rs939165968
NM_020435.4(GJC2):c.42G>A (p.Glu14=) rs2124965941
NM_020435.4(GJC2):c.453C>T (p.Gly151=)
NM_020435.4(GJC2):c.462G>A (p.Glu154=)
NM_020435.4(GJC2):c.51C>T (p.His17=)
NM_020435.4(GJC2):c.537T>C (p.Thr179=) rs2124966451
NM_020435.4(GJC2):c.546C>G (p.Val182=)
NM_020435.4(GJC2):c.549C>T (p.Gly183=)
NM_020435.4(GJC2):c.636G>C (p.Val212=)
NM_020435.4(GJC2):c.678C>T (p.Ala226=)
NM_020435.4(GJC2):c.765C>T (p.Asp255=) rs768752998
NM_020435.4(GJC2):c.795G>T (p.Thr265=) rs1485673013
NM_020435.4(GJC2):c.84C>T (p.Leu28=)
NM_020435.4(GJC2):c.873G>A (p.Leu291=)
NM_020435.4(GJC2):c.897C>T (p.Arg299=)
NM_020435.4(GJC2):c.960C>T (p.Phe320=)
NM_020435.4(GJC2):c.975T>G (p.Ala325=)
NM_020944.3(GBA2):c.1026+10G>C rs763449390
NM_020944.3(GBA2):c.1027-18T>A
NM_020944.3(GBA2):c.1130-14T>G
NM_020944.3(GBA2):c.1130-15_1130-14del
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_020944.3(GBA2):c.1227A>T (p.Ser409=)
NM_020944.3(GBA2):c.1239C>T (p.Asp413=)
NM_020944.3(GBA2):c.1283+20G>A
NM_020944.3(GBA2):c.1332C>T (p.Leu444=) rs1588012030
NM_020944.3(GBA2):c.1356C>T (p.Tyr452=)
NM_020944.3(GBA2):c.1399T>C (p.Leu467=)
NM_020944.3(GBA2):c.1410-11T>C
NM_020944.3(GBA2):c.1539C>T (p.Leu513=)
NM_020944.3(GBA2):c.1554G>T (p.Arg518=)
NM_020944.3(GBA2):c.1583-14A>G
NM_020944.3(GBA2):c.1688-10T>C
NM_020944.3(GBA2):c.1688-7C>T rs1410564153
NM_020944.3(GBA2):c.1713G>A (p.Leu571=)
NM_020944.3(GBA2):c.171G>C (p.Thr57=) rs752796065
NM_020944.3(GBA2):c.1731G>C (p.Leu577=) rs1588008179
NM_020944.3(GBA2):c.1761G>A (p.Arg587=)
NM_020944.3(GBA2):c.1795+12C>T
NM_020944.3(GBA2):c.1947+15T>C
NM_020944.3(GBA2):c.2055-12G>A
NM_020944.3(GBA2):c.2055-9C>T rs1554665870
NM_020944.3(GBA2):c.2055-9_2055-8insT rs1554665868
NM_020944.3(GBA2):c.2115G>A (p.Leu705=) rs1826376284
NM_020944.3(GBA2):c.2166C>A (p.Gly722=)
NM_020944.3(GBA2):c.2182A>C (p.Arg728=)
NM_020944.3(GBA2):c.2197+9G>A
NM_020944.3(GBA2):c.2198-6C>T
NM_020944.3(GBA2):c.2229G>C (p.Arg743=)
NM_020944.3(GBA2):c.2313+16G>C
NM_020944.3(GBA2):c.2331T>C (p.His777=) rs777387371
NM_020944.3(GBA2):c.234C>G (p.Gly78=)
NM_020944.3(GBA2):c.2388G>A (p.Gly796=)
NM_020944.3(GBA2):c.2481G>A (p.Gly827=)
NM_020944.3(GBA2):c.2505+12dup rs747824980
NM_020944.3(GBA2):c.2505+14T>C
NM_020944.3(GBA2):c.2506-14A>G
NM_020944.3(GBA2):c.2562G>A (p.Glu854=)
NM_020944.3(GBA2):c.2598C>T (p.Tyr866=)
NM_020944.3(GBA2):c.2673A>G (p.Gln891=)
NM_020944.3(GBA2):c.2718C>T (p.Gly906=)
NM_020944.3(GBA2):c.360-19A>G
NM_020944.3(GBA2):c.414C>T (p.Ile138=)
NM_020944.3(GBA2):c.568-15A>G
NM_020944.3(GBA2):c.587G>A (p.Arg196Gln)
NM_020944.3(GBA2):c.642C>T (p.Leu214=)
NM_020944.3(GBA2):c.72G>A (p.Glu24=)
NM_020944.3(GBA2):c.786+13C>T
NM_020944.3(GBA2):c.786+20A>G
NM_020944.3(GBA2):c.786+8C>T
NM_020944.3(GBA2):c.787-10C>A
NM_020944.3(GBA2):c.801T>A (p.Pro267=)
NM_020944.3(GBA2):c.909G>T (p.Gly303=)
NM_020944.3(GBA2):c.90C>T (p.Cys30=)
NM_020944.3(GBA2):c.969C>T (p.Leu323=)
NM_024306.5(FA2H):c.1008C>T (p.His336=)
NM_024306.5(FA2H):c.1039+11G>A
NM_024306.5(FA2H):c.1039+14T>G
NM_024306.5(FA2H):c.1039+18C>T
NM_024306.5(FA2H):c.1040-18G>A
NM_024306.5(FA2H):c.1040-5T>G
NM_024306.5(FA2H):c.1104C>T (p.His368=)
NM_024306.5(FA2H):c.1113G>A (p.Thr371=)
NM_024306.5(FA2H):c.148C>T (p.Leu50=) rs1346624061
NM_024306.5(FA2H):c.159G>A (p.Arg53=)
NM_024306.5(FA2H):c.162G>T (p.Ala54=) rs778018677
NM_024306.5(FA2H):c.198G>A (p.Pro66=) rs570454174
NM_024306.5(FA2H):c.216C>T (p.Asn72=)
NM_024306.5(FA2H):c.21C>G (p.Pro7=)
NM_024306.5(FA2H):c.270+18C>A
NM_024306.5(FA2H):c.270+18C>T
NM_024306.5(FA2H):c.271-12T>A rs1314200047
NM_024306.5(FA2H):c.271-12T>G rs1314200047
NM_024306.5(FA2H):c.271-14T>C
NM_024306.5(FA2H):c.342C>T (p.Phe114=)
NM_024306.5(FA2H):c.363+17G>A
NM_024306.5(FA2H):c.364-4G>A
NM_024306.5(FA2H):c.364-9C>T
NM_024306.5(FA2H):c.367C>T (p.Leu123=)
NM_024306.5(FA2H):c.36G>T (p.Ser12=)
NM_024306.5(FA2H):c.447G>T (p.Val149=)
NM_024306.5(FA2H):c.45G>A (p.Glu15=)
NM_024306.5(FA2H):c.506+10T>G
NM_024306.5(FA2H):c.507-16G>C rs1471422962
NM_024306.5(FA2H):c.507-19C>A rs2144616111
NM_024306.5(FA2H):c.585C>T (p.Asn195=) rs940374724
NM_024306.5(FA2H):c.621G>A (p.Thr207=)
NM_024306.5(FA2H):c.624G>A (p.Val208=)
NM_024306.5(FA2H):c.648C>G (p.Pro216=)
NM_024306.5(FA2H):c.648C>T (p.Pro216=) rs762526718
NM_024306.5(FA2H):c.669A>C (p.Thr223=)
NM_024306.5(FA2H):c.675C>T (p.Leu225=)
NM_024306.5(FA2H):c.786+11C>T
NM_024306.5(FA2H):c.786+15G>A
NM_024306.5(FA2H):c.786+16T>G
NM_024306.5(FA2H):c.786+8G>T
NM_024306.5(FA2H):c.803C>T (p.Ser268Phe)
NM_024306.5(FA2H):c.813C>G (p.Val271=)
NM_024306.5(FA2H):c.843C>T (p.Ile281=)
NM_024306.5(FA2H):c.846C>G (p.Gly282=) rs370973830
NM_024306.5(FA2H):c.846C>T (p.Gly282=) rs370973830
NM_024306.5(FA2H):c.849C>T (p.Val283=) rs2144601881
NM_024306.5(FA2H):c.858G>A (p.Leu286=)
NM_024306.5(FA2H):c.870C>T (p.Leu290=)
NM_024306.5(FA2H):c.906G>A (p.Ala302=)
NM_024306.5(FA2H):c.969G>T (p.Pro323=)
NM_183075.3(CYP2U1):c.1023C>T (p.Tyr341=)
NM_183075.3(CYP2U1):c.1056T>C (p.Ala352=)
NM_183075.3(CYP2U1):c.108G>A (p.Ala36=)
NM_183075.3(CYP2U1):c.1107G>A (p.Ser369=)
NM_183075.3(CYP2U1):c.1126+19C>G
NM_183075.3(CYP2U1):c.1127-13C>G
NM_183075.3(CYP2U1):c.1127-17T>A rs6856745
NM_183075.3(CYP2U1):c.115C>T (p.Leu39=)
NM_183075.3(CYP2U1):c.1167C>T (p.Asn389=)
NM_183075.3(CYP2U1):c.117A>C (p.Leu39=)
NM_183075.3(CYP2U1):c.1199T>C (p.Met400Thr)
NM_183075.3(CYP2U1):c.1254G>A (p.Pro418=)
NM_183075.3(CYP2U1):c.1288+12G>T rs2126201170
NM_183075.3(CYP2U1):c.1289-8T>C rs1733827276
NM_183075.3(CYP2U1):c.1293C>G (p.Leu431=)
NM_183075.3(CYP2U1):c.1392T>C (p.Pro464=)
NM_183075.3(CYP2U1):c.1410C>T (p.Asp470=) rs2126202758
NM_183075.3(CYP2U1):c.1519C>T (p.Leu507=)
NM_183075.3(CYP2U1):c.1615A>G (p.Ile539Val)
NM_183075.3(CYP2U1):c.168G>T (p.Ala56=)
NM_183075.3(CYP2U1):c.174C>T (p.Gly58=)
NM_183075.3(CYP2U1):c.183C>T (p.Pro61=)
NM_183075.3(CYP2U1):c.186G>T (p.Gly62=)
NM_183075.3(CYP2U1):c.195C>T (p.Pro65=)
NM_183075.3(CYP2U1):c.216C>T (p.Phe72=)
NM_183075.3(CYP2U1):c.261G>C (p.Leu87=) rs1732999423
NM_183075.3(CYP2U1):c.294C>T (p.Pro98=)
NM_183075.3(CYP2U1):c.30G>A (p.Pro10=)
NM_183075.3(CYP2U1):c.345C>T (p.Gly115=) rs2126188483
NM_183075.3(CYP2U1):c.411C>T (p.Arg137=) rs2126188577
NM_183075.3(CYP2U1):c.420G>C (p.Leu140=)
NM_183075.3(CYP2U1):c.453G>A (p.Pro151=)
NM_183075.3(CYP2U1):c.491-13T>C
NM_183075.3(CYP2U1):c.507T>C (p.His169=)
NM_183075.3(CYP2U1):c.514C>T (p.Pro172Ser)
NM_183075.3(CYP2U1):c.516C>T (p.Pro172=)
NM_183075.3(CYP2U1):c.54G>A (p.Ala18=)
NM_183075.3(CYP2U1):c.57C>G (p.Arg19=)
NM_183075.3(CYP2U1):c.591C>G (p.Pro197=)
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu) rs550088634
NM_183075.3(CYP2U1):c.666C>T (p.Ser222=)
NM_183075.3(CYP2U1):c.774C>G (p.Gly258=)
NM_183075.3(CYP2U1):c.831T>C (p.Tyr277=)
NM_183075.3(CYP2U1):c.864A>G (p.Arg288=) rs2126199461
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr) rs761095930
NM_183075.3(CYP2U1):c.88C>T (p.Leu30=)
NM_183075.3(CYP2U1):c.891C>T (p.Phe297=)
NM_183075.3(CYP2U1):c.924T>C (p.Ser308=)
NM_183075.3(CYP2U1):c.930T>C (p.Asp310=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.