ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive

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ClinVar version:
Total variants: 667
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_018136.5(ASPM):c.*81C>T rs12677 0.77214
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_018136.5(ASPM):c.9636+52T>C rs4915316 0.74861
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_018136.5(ASPM):c.-110C>T rs74981632 0.02032
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_018136.5(ASPM):c.*158T>C rs41265225 0.00824
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu) rs35203521 0.00779
NM_018136.5(ASPM):c.644A>C (p.Glu215Ala) rs114695225 0.00779
NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser) rs114737609 0.00775
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser) rs113611857 0.00689
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_018136.5(ASPM):c.-28G>A rs111299108 0.00419
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=) rs140248383 0.00393
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His) rs150125249 0.00378
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018136.5(ASPM):c.9444+8T>G rs140150599 0.00278
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp) rs144049904 0.00217
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00207
NM_018136.5(ASPM):c.1922-14C>G rs189193044 0.00203
NM_018136.5(ASPM):c.1385A>G (p.Tyr462Cys) rs143294539 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro) rs142536561 0.00150
NM_018136.5(ASPM):c.646G>A (p.Glu216Lys) rs151050191 0.00137
NM_018136.5(ASPM):c.-114C>A rs78280885 0.00121
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn) rs60950503 0.00119
NM_018136.5(ASPM):c.-177G>A rs80055790 0.00118
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly) rs150327858 0.00109
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00093
NM_018136.5(ASPM):c.2420-20G>A rs191404122 0.00087
NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln) rs149859034 0.00079
NM_018136.5(ASPM):c.9985-72G>A rs538986451 0.00077
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys) rs112113370 0.00066
NM_018136.5(ASPM):c.844A>C (p.Asn282His) rs113777932 0.00066
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr) rs77736715 0.00066
NM_018136.5(ASPM):c.6717G>C (p.Leu2239=) rs147100928 0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser) rs117963393 0.00059
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu) rs140119882 0.00054
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00049
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00043
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_018136.5(ASPM):c.1740C>G (p.Ser580Arg) rs147457270 0.00040
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp) rs141532484 0.00038
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_018136.5(ASPM):c.*82G>A rs775183015 0.00035
NM_018136.5(ASPM):c.1467A>G (p.Arg489=) rs146561469 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys) rs201066146 0.00031
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) rs150684410 0.00030
NM_018136.5(ASPM):c.7157A>G (p.His2386Arg) rs137890991 0.00030
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.4897C>T (p.Arg1633Cys) rs200202166 0.00029
NM_018136.5(ASPM):c.937A>G (p.Ile313Val) rs12025066 0.00029
NM_018136.5(ASPM):c.9006A>G (p.Ala3002=) rs143760252 0.00028
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
NM_018136.5(ASPM):c.2043G>A (p.Pro681=) rs147526389 0.00026
NM_018136.5(ASPM):c.3229A>C (p.Lys1077Gln) rs139317695 0.00026
NM_018136.5(ASPM):c.1921+13T>G rs41304245 0.00025
NM_018136.5(ASPM):c.5818C>G (p.Gln1940Glu) rs142378871 0.00023
NM_018136.5(ASPM):c.523G>A (p.Val175Ile) rs201934616 0.00021
NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) rs147466865 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr) rs41299627 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_018136.5(ASPM):c.8741T>C (p.Ile2914Thr) rs200856894 0.00021
NM_018136.5(ASPM):c.676C>T (p.Pro226Ser) rs147830520 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) rs148245202 0.00020
NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys) rs112997359 0.00019
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) rs146959075 0.00019
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His) rs143733126 0.00019
NM_018136.5(ASPM):c.*61G>A rs111463579 0.00018
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg) rs201927596 0.00018
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00018
NM_018136.5(ASPM):c.8277A>G (p.Lys2759=) rs148555951 0.00018
NM_018136.5(ASPM):c.10416G>A (p.Thr3472=) rs150108952 0.00016
NM_018136.5(ASPM):c.4214G>A (p.Arg1405His) rs143092798 0.00016
NM_018136.5(ASPM):c.4402G>A (p.Ala1468Thr) rs189918817 0.00016
NM_018136.5(ASPM):c.5061A>G (p.Ser1687=) rs587783246 0.00016
NM_018136.5(ASPM):c.6514G>A (p.Val2172Ile) rs370590014 0.00016
NM_018136.5(ASPM):c.7179T>A (p.Ala2393=) rs117668001 0.00016
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=) rs779442940 0.00016
NM_018136.5(ASPM):c.81C>A (p.Pro27=) rs369801034 0.00016
NM_018136.5(ASPM):c.2761-11T>C rs368239890 0.00015
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe) rs560847421 0.00014
NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu) rs527602809 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala) rs141348662 0.00014
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_018136.5(ASPM):c.4066-32T>C rs143351980 0.00012
NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg) rs201679731 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) rs755203240 0.00011
NM_018136.5(ASPM):c.4053A>C (p.Ala1351=) rs147209201 0.00011
NM_018136.5(ASPM):c.502A>C (p.Arg168=) rs147527791 0.00011
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp) rs144969324 0.00011
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) rs186663906 0.00011
NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp) rs112946633 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.3083-11T>C rs372375601 0.00010
NM_018136.5(ASPM):c.3156G>A (p.Ala1052=) rs143680877 0.00010
NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) rs147839989 0.00010
NM_018136.5(ASPM):c.9246T>C (p.Ser3082=) rs201050851 0.00010
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys) rs140679756 0.00010
NM_018136.5(ASPM):c.4796G>A (p.Arg1599Gln) rs62623433 0.00009
NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr) rs777352982 0.00009
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile) rs144574871 0.00009
NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) rs148338547 0.00009
NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val) rs150906798 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018136.5(ASPM):c.1283A>T (p.Asp428Val) rs767859450 0.00008
NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser) rs145645602 0.00008
NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe) rs371321801 0.00008
NM_018136.5(ASPM):c.135C>T (p.Cys45=) rs200874183 0.00007
NM_018136.5(ASPM):c.2328A>T (p.Glu776Asp) rs184969664 0.00007
NM_018136.5(ASPM):c.2419+6A>T rs202002135 0.00007
NM_018136.5(ASPM):c.6551G>A (p.Arg2184Gln) rs200848981 0.00007
NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu) rs753961004 0.00007
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) rs542967760 0.00007
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr) rs761768584 0.00006
NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys) rs201191528 0.00006
NM_018136.5(ASPM):c.1184A>G (p.Gln395Arg) rs147820821 0.00006
NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn) rs587783218 0.00006
NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr) rs149162314 0.00006
NM_018136.5(ASPM):c.2640A>G (p.Glu880=) rs144908700 0.00006
NM_018136.5(ASPM):c.2914T>G (p.Leu972Val) rs552158003 0.00006
NM_018136.5(ASPM):c.3955G>T (p.Ala1319Ser) rs376541100 0.00006
NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) rs371861473 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_018136.5(ASPM):c.4914G>A (p.Val1638=) rs759159863 0.00006
NM_018136.5(ASPM):c.5471A>G (p.Gln1824Arg) rs62623448 0.00006
NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr) rs200800956 0.00006
NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp) rs150424130 0.00006
NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln) rs747515767 0.00006
NM_018136.5(ASPM):c.9471A>G (p.Glu3157=) rs764291332 0.00006
NM_018136.5(ASPM):c.9932C>T (p.Pro3311Leu) rs886045761 0.00006
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.3804A>G (p.Arg1268=) rs142766262 0.00005
NM_018136.5(ASPM):c.3886G>C (p.Ala1296Pro) rs373469406 0.00005
NM_018136.5(ASPM):c.601A>G (p.Asn201Asp) rs370907931 0.00005
NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys) rs142865061 0.00005
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile) rs764918001 0.00005
NM_018136.5(ASPM):c.7635A>G (p.Lys2545=) rs753881432 0.00005
NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln) rs777169562 0.00005
NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile) rs951343801 0.00004
NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val) rs886045758 0.00004
NM_018136.5(ASPM):c.10331+5G>A rs368843607 0.00004
NM_018136.5(ASPM):c.1474A>G (p.Ile492Val) rs149075351 0.00004
NM_018136.5(ASPM):c.1681G>A (p.Glu561Lys) rs763648822 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.441+10T>G rs587783242 0.00004
NM_018136.5(ASPM):c.4457A>G (p.Tyr1486Cys) rs368020945 0.00004
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.5923A>G (p.Ile1975Val) rs548744621 0.00004
NM_018136.5(ASPM):c.6046T>C (p.Leu2016=) rs772399724 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) rs587783262 0.00004
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=) rs544467368 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_018136.5(ASPM):c.*145T>G rs537891059 0.00003
NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His) rs141240137 0.00003
NM_018136.5(ASPM):c.10331+18G>A rs571179573 0.00003
NM_018136.5(ASPM):c.1825C>G (p.Pro609Ala) rs760610573 0.00003
NM_018136.5(ASPM):c.2080C>T (p.Arg694Cys) rs367946511 0.00003
NM_018136.5(ASPM):c.2173+6C>T rs377501585 0.00003
NM_018136.5(ASPM):c.3698T>C (p.Met1233Thr) rs181039922 0.00003
NM_018136.5(ASPM):c.4024A>G (p.Lys1342Glu) rs779744390 0.00003
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_018136.5(ASPM):c.4488A>G (p.Lys1496=) rs141695023 0.00003
NM_018136.5(ASPM):c.4867A>G (p.Met1623Val) rs369399401 0.00003
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter) rs148294838 0.00003
NM_018136.5(ASPM):c.609C>T (p.Gly203=) rs587783255 0.00003
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe) rs371020085 0.00003
NM_018136.5(ASPM):c.6965A>C (p.Tyr2322Ser) rs886045768 0.00003
NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=) rs189678019 0.00003
NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser) rs371852516 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 0.00003
NM_018136.5(ASPM):c.902A>G (p.Asn301Ser) rs199621432 0.00003
NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp) rs142024644 0.00003
NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp) rs758869894 0.00003
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter) rs199422186 0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro) rs375985254 0.00003
NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val) rs147256280 0.00003
NM_018136.5(ASPM):c.10041G>A (p.Leu3347=) rs191340810 0.00002
NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn) rs794727443 0.00002
NM_018136.5(ASPM):c.1310G>A (p.Arg437His) rs551198579 0.00002
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) rs759534488 0.00002
NM_018136.5(ASPM):c.2060A>G (p.Lys687Arg) rs763381773 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2629+3A>G rs758509567 0.00002
NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser) rs765798033 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_018136.5(ASPM):c.309A>G (p.Lys103=) rs587783229 0.00002
NM_018136.5(ASPM):c.3480T>A (p.Ala1160=) rs373180437 0.00002
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter) rs137852996 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_018136.5(ASPM):c.3871-8T>C rs770297822 0.00002
NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp) rs371997190 0.00002
NM_018136.5(ASPM):c.4591C>T (p.Arg1531Cys) rs780484121 0.00002
NM_018136.5(ASPM):c.489A>G (p.Thr163=) rs372355541 0.00002
NM_018136.5(ASPM):c.5478A>C (p.Ile1826=) rs764346876 0.00002
NM_018136.5(ASPM):c.582T>C (p.Ala194=) rs556849969 0.00002
NM_018136.5(ASPM):c.5849C>T (p.Ala1950Val) rs368693433 0.00002
NM_018136.5(ASPM):c.6058A>G (p.Thr2020Ala) rs587783253 0.00002
NM_018136.5(ASPM):c.6545T>G (p.Val2182Gly) rs765139526 0.00002
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly) rs373818179 0.00002
NM_018136.5(ASPM):c.6843A>T (p.Arg2281Ser) rs749279060 0.00002
NM_018136.5(ASPM):c.7841A>G (p.Asp2614Gly) rs587783273 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs) rs754767041 0.00001
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter) rs748529285 0.00001
NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln) rs537930821 0.00001
NM_018136.5(ASPM):c.10109C>G (p.Thr3370Arg) rs587783209 0.00001
NM_018136.5(ASPM):c.112G>A (p.Val38Ile) rs587783214 0.00001
NM_018136.5(ASPM):c.128A>G (p.His43Arg) rs763864896 0.00001
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs) rs1404276011 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.1742T>C (p.Met581Thr) rs757587073 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile) rs766146033 0.00001
NM_018136.5(ASPM):c.1840G>C (p.Val614Leu) rs199813531 0.00001
NM_018136.5(ASPM):c.1857T>C (p.Asn619=) rs747330693 0.00001
NM_018136.5(ASPM):c.193C>A (p.Leu65Met) rs780727023 0.00001
NM_018136.5(ASPM):c.2062A>C (p.Asn688His) rs775158833 0.00001
NM_018136.5(ASPM):c.2173+5A>T rs1196624971 0.00001
NM_018136.5(ASPM):c.2312G>A (p.Arg771His) rs375059809 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.2759A>G (p.Lys920Arg) rs372956877 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.2936+13A>G rs759746669 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.2T>C (p.Met1Thr) rs761447719 0.00001
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) rs149330414 0.00001
NM_018136.5(ASPM):c.3622G>A (p.Glu1208Lys) rs1320488101 0.00001
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp) rs867611929 0.00001
NM_018136.5(ASPM):c.3725C>T (p.Thr1242Ile) rs923491109 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.3825A>C (p.Thr1275=) rs587783237 0.00001
NM_018136.5(ASPM):c.3895A>G (p.Ile1299Val) rs770550480 0.00001
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs) rs759632528 0.00001
NM_018136.5(ASPM):c.396C>G (p.His132Gln) rs761152464 0.00001
NM_018136.5(ASPM):c.4206G>A (p.Arg1402=) rs1657367896 0.00001
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly) rs769921325 0.00001
NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln) rs587783243 0.00001
NM_018136.5(ASPM):c.4474G>C (p.Val1492Leu) rs587783244 0.00001
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys) rs751358312 0.00001
NM_018136.5(ASPM):c.4560del (p.Tyr1521fs) rs1402437185 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter) rs1657341426 0.00001
NM_018136.5(ASPM):c.4834A>T (p.Ile1612Phe) rs1464543547 0.00001
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter) rs772050241 0.00001
NM_018136.5(ASPM):c.5055G>T (p.Leu1685Phe) rs768697877 0.00001
NM_018136.5(ASPM):c.5098C>T (p.His1700Tyr) rs749580322 0.00001
NM_018136.5(ASPM):c.5131T>C (p.Cys1711Arg) rs886045773 0.00001
NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn) rs1338772800 0.00001
NM_018136.5(ASPM):c.5587A>G (p.Thr1863Ala) rs769813952 0.00001
NM_018136.5(ASPM):c.5967G>A (p.Lys1989=) rs886045770 0.00001
NM_018136.5(ASPM):c.59C>T (p.Pro20Leu) rs587783252 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6172A>G (p.Lys2058Glu) rs774901339 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter) rs1334947797 0.00001
NM_018136.5(ASPM):c.7062T>C (p.Tyr2354=) rs587783261 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.7347T>G (p.His2449Gln) rs1183596520 0.00001
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln) rs751584273 0.00001
NM_018136.5(ASPM):c.7878G>A (p.Gln2626=) rs757860001 0.00001
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.8142A>C (p.Ala2714=) rs765601630 0.00001
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val) rs140656421 0.00001
NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser) rs966129910 0.00001
NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter) rs199422181 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn) rs886045762 0.00001
NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His) rs776868381 0.00001
NM_018136.5(ASPM):c.8892G>T (p.Trp2964Cys) rs201285805 0.00001
NM_018136.5(ASPM):c.898C>G (p.Pro300Ala) rs200453432 0.00001
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00001
NM_018136.5(ASPM):c.9320G>A (p.Arg3107Gln) rs587783290 0.00001
NM_018136.5(ASPM):c.9444+1G>T rs1656796807 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) rs77424753 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_018136.5(ASPM):c.9923G>A (p.Arg3308His) rs201362977 0.00001
NM_001371596.2(MFSD8):c.699-1G>A rs1739594685
NM_018136.4(ASPM):c.[10168C>T];[8098C>T]
NM_018136.5(ASPM):c.-189C>G rs867409096
NM_018136.5(ASPM):c.-214T>C rs886045781
NM_018136.5(ASPM):c.1002del (p.Leu334_Val335insTer) rs199422136
NM_018136.5(ASPM):c.10039T>C (p.Leu3347=) rs886045760
NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter) rs199422201
NM_018136.5(ASPM):c.10095C>T (p.Gly3365=) rs886045759
NM_018136.5(ASPM):c.10100G>A (p.Ser3367Asn) rs587783208
NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr)
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_018136.5(ASPM):c.10161+1_10161+2del
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.117_118del (p.Leu41fs) rs587783216
NM_018136.5(ASPM):c.1199del (p.Asn400fs)
NM_018136.5(ASPM):c.1201A>G (p.Met401Val) rs587783217
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs) rs199422139
NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala) rs1658644883
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter) rs199422141
NM_018136.5(ASPM):c.1406_1413del (p.Asn469fs) rs199422142
NM_018136.5(ASPM):c.1485dup (p.Thr496fs)
NM_018136.5(ASPM):c.1495A>G (p.Lys499Glu) rs587783219
NM_018136.5(ASPM):c.1498del (p.Arg500fs)
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer) rs199422143
NM_018136.5(ASPM):c.1598_1601del (p.Asn533fs)
NM_018136.5(ASPM):c.1619dup (p.Asp540fs)
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs) rs587783221
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs) rs1553227645
NM_018136.5(ASPM):c.17T>C (p.Val6Ala) rs886045779
NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)
NM_018136.5(ASPM):c.1841T>C (p.Val614Ala) rs1658614866
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del) rs750297982
NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1932del (p.Phe645fs) rs2125112411
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.1990C>T (p.Gln664Ter) rs199422148
NM_018136.5(ASPM):c.2027-13del rs773675080
NM_018136.5(ASPM):c.2027-516G>T
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu) rs753945250
NM_018136.5(ASPM):c.2055T>A (p.Ala685=) rs1658380406
NM_018136.5(ASPM):c.2085G>A (p.Trp695Ter) rs1553227021
NM_018136.5(ASPM):c.2135C>A (p.Thr712Asn) rs886045778
NM_018136.5(ASPM):c.2174-12G>A rs757488628
NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2419+11T>C rs1658320215
NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe) rs2125107877
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2581dup (p.Ile861fs) rs2125107857
NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) rs769421796
NM_018136.5(ASPM):c.2606C>T (p.Thr869Ile) rs7551108
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) rs755211990
NM_018136.5(ASPM):c.2715_2717delinsAATGAGTC (p.Ile906fs)
NM_018136.5(ASPM):c.2724T>C (p.His908=) rs587783226
NM_018136.5(ASPM):c.2760+1G>A rs2125107452
NM_018136.5(ASPM):c.2761-25A>G rs199422149
NM_018136.5(ASPM):c.2779T>C (p.Leu927=) rs199422129
NM_018136.5(ASPM):c.2783del (p.Ala928fs)
NM_018136.5(ASPM):c.2887T>G (p.Phe963Val) rs1658160160
NM_018136.5(ASPM):c.2916G>A (p.Leu972=) rs150590956
NM_018136.5(ASPM):c.2936+5G>T rs199422150
NM_018136.5(ASPM):c.2936dup (p.Arg980fs) rs797045311
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.2968del (p.Asp990fs) rs587783228
NM_018136.5(ASPM):c.297+1G>C rs1553228275
NM_018136.5(ASPM):c.301A>G (p.Lys101Glu) rs549294276
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.3056G>T (p.Arg1019Leu) rs780791970
NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) rs2125105601
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg) rs199422154
NM_018136.5(ASPM):c.3115A>G (p.Arg1039Gly) rs1259632140
NM_018136.5(ASPM):c.3144T>C (p.Leu1048=) rs1292454651
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=) rs868630671
NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter) rs199422155
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
NM_018136.5(ASPM):c.326dup (p.Asn109fs)
NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs) rs1240081512
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter) rs587783230
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)
NM_018136.5(ASPM):c.3390+3_3390+6del rs797045313
NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs) rs199422156
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs) rs769818500
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter) rs199422157
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)
NM_018136.5(ASPM):c.3599-7A>C rs886045777
NM_018136.5(ASPM):c.3599-7A>G rs886045777
NM_018136.5(ASPM):c.3663del (p.Arg1221fs) rs199422158
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter) rs199422159
NM_018136.5(ASPM):c.3741+1G>A rs199422160
NM_018136.5(ASPM):c.3741+1G>C
NM_018136.5(ASPM):c.3742-12G>C rs748824950
NM_018136.5(ASPM):c.3742-1G>C
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3820C>T (p.Gln1274Ter)
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter) rs587783238
NM_018136.5(ASPM):c.3845T>C (p.Leu1282Pro) rs886045776
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)
NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs)
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.3974dup (p.Tyr1325Ter) rs1553225179
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)
NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter) rs199422162
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)
NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018136.5(ASPM):c.4214G>C (p.Arg1405Pro) rs143092798
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer) rs1571602991
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) rs1657362655
NM_018136.5(ASPM):c.434del (p.Lys145fs) rs2125114846
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.440del (p.Lys147fs) rs199422133
NM_018136.5(ASPM):c.441+5T>G
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs) rs2125096622
NM_018136.5(ASPM):c.4507G>A (p.Ala1503Thr) rs1657354520
NM_018136.5(ASPM):c.4515del (p.Lys1505fs)
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
NM_018136.5(ASPM):c.4583del (p.Lys1528fs) rs199422164
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His) rs200681905
NM_018136.5(ASPM):c.4613G>A (p.Arg1538Gln) rs1657346244
NM_018136.5(ASPM):c.4726A>G (p.Arg1576Gly) rs886045775
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs) rs199422166
NM_018136.5(ASPM):c.4938dup (p.Gln1647fs)
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) rs2125096196
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer) rs199422167
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.5292G>A (p.Met1764Ile) rs587783249
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) rs1553223646
NM_018136.5(ASPM):c.532del (p.Thr178fs)
NM_018136.5(ASPM):c.5424G>A (p.Leu1808=) rs1657297637
NM_018136.5(ASPM):c.5467C>T (p.Gln1823Ter) rs754909135
NM_018136.5(ASPM):c.5509G>T (p.Gly1837Cys) rs1657292215
NM_018136.5(ASPM):c.5532T>G (p.Tyr1844Ter) rs797045314
NM_018136.5(ASPM):c.5582A>G (p.Tyr1861Cys) rs587783250
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs) rs1571601267
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.5606C>G (p.Thr1869Arg) rs886045772
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)
NM_018136.5(ASPM):c.562G>C (p.Val188Leu) rs587783251
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.5693A>T (p.His1898Leu) rs1215586674
NM_018136.5(ASPM):c.5742G>T (p.Gln1914His) rs886045771
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer) rs2125095313
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.6334C>T (p.His2112Tyr) rs587783257
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.6351C>T (p.His2117=)
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) rs1267196794
NM_018136.5(ASPM):c.6513dup (p.Val2172fs) rs1571600045
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs) rs199422170
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys) rs755151801
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro) rs548708212
NM_018136.5(ASPM):c.6732del (p.Tyr2245fs) rs199422171
NM_018136.5(ASPM):c.6736A>G (p.Ile2246Val) rs886045769
NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)
NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.688del (p.Glu230fs) rs1557966012
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs) rs1064795945
NM_018136.5(ASPM):c.6919C>T (p.Gln2307Ter) rs142865061
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7045A>C (p.Arg2349=) rs771273638
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.719_720del (p.Ser240fs) rs199422135
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn) rs376686304
NM_018136.5(ASPM):c.7308dup (p.Val2437fs) rs797045315
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) rs560411441
NM_018136.5(ASPM):c.7461T>A (p.Ile2487=) rs199422130
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs) rs199422172
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter) rs587783268
NM_018136.5(ASPM):c.7664_7665del (p.Lys2555fs) rs587783269
NM_018136.5(ASPM):c.7665del (p.Ala2556fs) rs587783269
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)
NM_018136.5(ASPM):c.7757A>G (p.Lys2586Arg) rs886045767
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter) rs189678019
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.77del (p.Gly26fs) rs199422131
NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg)
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter) rs587783272
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)
NM_018136.5(ASPM):c.7853A>G (p.Lys2618Arg) rs886045766
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs) rs797045316
NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs) rs199422174
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter) rs199422175
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del) rs775391911
NM_018136.5(ASPM):c.7976G>A (p.Arg2659Lys) rs886045765
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.803_804del (p.Lys268fs) rs587783277
NM_018136.5(ASPM):c.804del (p.Val269fs)
NM_018136.5(ASPM):c.8117T>C (p.Val2706Ala) rs1657157578
NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs) rs199422176
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8141del (p.Ala2714fs) rs2125093720
NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) rs2125093662
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter) rs199422178
NM_018136.5(ASPM):c.8291A>G (p.Glu2764Gly) rs587783279
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr) rs886045764
NM_018136.5(ASPM):c.8365del (p.Ser2789fs) rs1353421249
NM_018136.5(ASPM):c.8378del (p.Met2793fs) rs199422179
NM_018136.5(ASPM):c.848C>T (p.Ser283Phe) rs199422128
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs) rs199422180
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs) rs1571596976
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
NM_018136.5(ASPM):c.8685A>C (p.Ala2895=) rs886045763
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs) rs2125093294
NM_018136.5(ASPM):c.8702del (p.His2901fs)
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter) rs587783282
NM_018136.5(ASPM):c.8736T>C (p.Ser2912=) rs1657117675
NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)
NM_018136.5(ASPM):c.8794del (p.Ile2932fs) rs1160186494
NM_018136.5(ASPM):c.8844del (p.Lys2949fs) rs199422182
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter) rs587783288
NM_018136.5(ASPM):c.9109del (p.Gln3037fs) rs2125089566
NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs) rs199422183
NM_018136.5(ASPM):c.9144C>G (p.Val3048=) rs1656844574
NM_018136.5(ASPM):c.9159del (p.Lys3053fs) rs199422184
NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)
NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter) rs774143329
NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs) rs587783289
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter) rs199422187
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro) rs36004306
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) rs2125088498
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter) rs143931757
NM_018136.5(ASPM):c.9507del (p.Ile3170fs) rs199422188
NM_018136.5(ASPM):c.951T>G (p.Ser317Arg) rs1658660724
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) rs530083972
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter) rs199422189
NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys) rs760292134
NM_018136.5(ASPM):c.9593G>A (p.Arg3198His) rs145333987
NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter) rs199422190
NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter) rs368682161
NM_018136.5(ASPM):c.9662G>A (p.Arg3221Lys) rs587783293
NM_018136.5(ASPM):c.9664A>T (p.Lys3222Ter)
NM_018136.5(ASPM):c.9677dup (p.Cys3226fs) rs199422191
NM_018136.5(ASPM):c.9685del (p.Ile3229fs) rs199422192
NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs) rs199422193
NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9754del (p.Arg3252fs) rs199422197
NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter) rs199422198
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter) rs199422199
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter) rs2125087894
NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)
NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu) rs201362977
NM_018136.5(ASPM):c.9939G>T (p.Met3313Ile) rs1427418520
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018136.5(ASPM):c.9984+1G>T rs199422200
NM_018136.5(ASPM):c.[1789C>T;2525_2531del]
nsv930453

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