ClinVar Miner

List of variants in gene ASPM studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1221
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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.3390+142T>A rs6685259 0.88797
NM_018136.5(ASPM):c.2760+174C>G rs6695300 0.85987
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.2173+251C>T rs877897 0.77165
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_018136.5(ASPM):c.10331+151A>G rs10733087 0.77158
NM_018136.5(ASPM):c.8987+230_8987+231insTAC rs3077762 0.77121
NM_018136.5(ASPM):c.9636+102C>T rs4915315 0.75691
NM_018136.5(ASPM):c.4065+250G>A rs10754215 0.75660
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+88T>C rs10754214 0.74885
NM_018136.5(ASPM):c.2488-299T>C rs7541429 0.74867
NM_018136.5(ASPM):c.2026+204G>A rs10737687 0.74866
NM_018136.5(ASPM):c.9636+52T>C rs4915316 0.74861
NM_018136.5(ASPM):c.8987+302T>C rs1953064 0.74860
NM_018136.5(ASPM):c.2420-139A>G rs3737111 0.44428
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_018136.5(ASPM):c.8988-42G>A rs41304071 0.30406
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_018136.5(ASPM):c.2174-201G>A rs41310911 0.30395
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_018136.5(ASPM):c.2487+112G>T rs3737110 0.30234
NM_018136.5(ASPM):c.3391-83A>G rs61819088 0.30223
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_018136.5(ASPM):c.9444+254T>A rs955927 0.29790
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NC_000001.11:g.197084011T>C rs1332660 0.16239
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_018136.5(ASPM):c.9636+116G>A rs72736482 0.07792
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.2419+204C>T rs79246047 0.02799
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_018136.5(ASPM):c.2173+120A>G rs114887287 0.02280
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.10161+144A>T rs75268113 0.02000
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NC_000001.11:g.197083990C>T rs75841031 0.01514
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.2419+313A>G rs115195513 0.01507
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_018136.5(ASPM):c.2937-171T>C rs114071210 0.01462
NM_018136.5(ASPM):c.3871-251A>G rs60769813 0.01462
NM_018136.5(ASPM):c.2419+289C>T rs115786119 0.01461
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.2026+313C>T rs111753423 0.00935
NM_018136.5(ASPM):c.8821-287_8821-286del rs112683881 0.00929
NM_018136.5(ASPM):c.9445-249G>A rs112214972 0.00929
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_018136.5(ASPM):c.9084+131G>A rs114361901 0.00850
NM_018136.5(ASPM):c.9637-38G>A rs116608360 0.00848
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.1921+300G>A rs116832434 0.00788
NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu) rs62623455 0.00788
NM_018136.5(ASPM):c.2488-131A>C rs80157479 0.00787
NM_018136.5(ASPM):c.9444+111G>A rs79431914 0.00787
NM_018136.5(ASPM):c.9636+68del rs201186097 0.00785
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.9085-101T>A rs145908430 0.00778
NM_018136.5(ASPM):c.9085-83A>G rs116297575 0.00778
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.3390+162A>G rs139855488 0.00774
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_018136.5(ASPM):c.4065+73A>G rs115716898 0.00752
NM_018136.5(ASPM):c.442-26T>C rs76822237 0.00752
NM_018136.5(ASPM):c.3870+294G>A rs78930407 0.00748
NM_018136.5(ASPM):c.3871-172G>A rs115201296 0.00737
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr) rs112230218 0.00719
NM_018136.5(ASPM):c.3391-298A>G rs138191108 0.00690
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.2487+294A>G rs141225800 0.00648
NM_018136.5(ASPM):c.2173+269T>G rs142033276 0.00646
NM_018136.5(ASPM):c.2488-99A>G rs143729423 0.00644
NM_018136.5(ASPM):c.10162-73G>T rs149864217 0.00639
NM_018136.5(ASPM):c.2630-61T>G rs79301608 0.00637
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_018136.5(ASPM):c.2027-324T>C rs112559696 0.00457
NM_018136.5(ASPM):c.9444+61A>G rs146122230 0.00456
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_018136.5(ASPM):c.442-58G>A rs138530804 0.00403
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.2629+29C>T rs201856338 0.00368
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_018136.5(ASPM):c.2760+138G>C rs190968454 0.00306
NM_018136.5(ASPM):c.3870+25A>G rs140776310 0.00290
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_018136.5(ASPM):c.8821-47A>G rs139830165 0.00280
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.5940C>T (p.Tyr1980=) rs150642468 0.00177
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.9830-18G>T rs200800781 0.00152
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.1732G>A (p.Asp578Asn) rs60950503 0.00119
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.9276T>C (p.Gly3092=) rs151142538 0.00103
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.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.2275C>T (p.Arg759Trp) rs777867809 0.00064
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.9272G>A (p.Arg3091His) rs147005963 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.6388C>T (p.His2130Tyr) rs554124451 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.6702A>G (p.Gln2234=) rs142587742 0.00036
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.3772G>A (p.Ala1258Thr) rs142214506 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.3090A>G (p.Thr1030=) rs144559326 0.00027
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00027
NM_018136.5(ASPM):c.1867C>A (p.Pro623Thr) rs145625555 0.00026
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.8929A>G (p.Ile2977Val) rs148818072 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.8821-12T>C rs370550019 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.5700T>G (p.Ala1900=) rs146673233 0.00019
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.1980C>T (p.Ile660=) rs151087446 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.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.1469G>A (p.Arg490His) rs545470771 0.00014
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.7569A>G (p.Gln2523=) rs148494695 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.7300A>G (p.Thr2434Ala) rs768997704 0.00013
NM_018136.5(ASPM):c.8645A>G (p.Tyr2882Cys) rs145308167 0.00013
NM_018136.5(ASPM):c.4066-32T>C rs143351980 0.00012
NM_018136.5(ASPM):c.8821-11G>A rs575748460 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.2276G>A (p.Arg759Gln) rs375901171 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.9085-3T>C rs201188381 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_018136.5(ASPM):c.2004C>T (p.Thr668=) rs377625262 0.00010
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.4135T>C (p.Ser1379Pro) rs768625023 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.9287G>A (p.Arg3096Gln) rs146444278 0.00010
NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys) rs140679756 0.00010
NM_018136.5(ASPM):c.2174-12G>C rs757488628 0.00009
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) rs554545885 0.00009
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.5895A>G (p.Arg1965=) rs567095370 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.719C>G (p.Ser240Cys) rs140646088 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.9641T>C (p.Leu3214Ser) rs368682161 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.7106A>C (p.Gln2369Pro) rs372076208 0.00008
NM_018136.5(ASPM):c.8224G>A (p.Val2742Ile) rs562043376 0.00008
NM_018136.5(ASPM):c.9830-7C>T rs1236570791 0.00008
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.10330A>C (p.Arg3444=) rs140231146 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.2641G>A (p.Ala881Thr) rs142743598 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.4216G>A (p.Ala1406Thr) rs145662604 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.5984_5986del (p.Lys1995_Ala1996delinsThr) rs886043659 0.00006
NM_018136.5(ASPM):c.5990C>T (p.Ala1997Val) rs767318099 0.00006
NM_018136.5(ASPM):c.6606A>T (p.Arg2202Ser) rs373173968 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.8780G>A (p.Arg2927Gln) rs773437954 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.1579G>C (p.Glu527Gln) rs376058344 0.00005
NM_018136.5(ASPM):c.1788G>A (p.Val596=) rs181045749 0.00005
NM_018136.5(ASPM):c.19G>C (p.Gly7Arg) rs776662758 0.00005
NM_018136.5(ASPM):c.2532C>T (p.Val844=) rs141716537 0.00005
NM_018136.5(ASPM):c.3420C>T (p.Asp1140=) rs186076559 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.4485G>C (p.Gln1495His) rs778617096 0.00005
NM_018136.5(ASPM):c.5843G>A (p.Arg1948His) rs373196055 0.00005
NM_018136.5(ASPM):c.656T>C (p.Ile219Thr) rs771860582 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.8525G>A (p.Arg2842Gln) rs373023853 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 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.1975A>G (p.Ile659Val) rs1420934117 0.00004
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys) rs546095187 0.00004
NM_018136.5(ASPM):c.3574A>G (p.Met1192Val) rs376125391 0.00004
NM_018136.5(ASPM):c.3597T>C (p.His1199=) rs752363848 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.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys) rs149376906 0.00004
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.6795C>T (p.Ala2265=) rs750759285 0.00004
NM_018136.5(ASPM):c.7005C>T (p.His2335=) rs754453682 0.00004
NM_018136.5(ASPM):c.7033T>C (p.Phe2345Leu) rs761572391 0.00004
NM_018136.5(ASPM):c.7074A>G (p.Lys2358=) rs587783262 0.00004
NM_018136.5(ASPM):c.725G>A (p.Arg242His) rs374323328 0.00004
NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=) rs544467368 0.00004
NM_018136.5(ASPM):c.7726C>T (p.Leu2576Phe) rs780755563 0.00004
NM_018136.5(ASPM):c.8616G>A (p.Thr2872=) rs377167359 0.00004
NM_018136.5(ASPM):c.8691G>T (p.Leu2897=) rs771080907 0.00004
NM_018136.5(ASPM):c.8757A>T (p.Arg2919Ser) rs751097660 0.00004
NM_018136.5(ASPM):c.8894A>G (p.Tyr2965Cys) rs754886176 0.00004
NM_018136.5(ASPM):c.9152G>A (p.Arg3051Gln) rs368000478 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.932G>C (p.Ser311Thr) rs202012380 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
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.1922-5T>C rs1295728710 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.2761-4A>G rs770875836 0.00003
NM_018136.5(ASPM):c.3168+11T>G rs752113162 0.00003
NM_018136.5(ASPM):c.3390+3A>G rs377110373 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.4035A>G (p.Lys1345=) rs537034419 0.00003
NM_018136.5(ASPM):c.4329A>G (p.Val1443=) rs564951757 0.00003
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_018136.5(ASPM):c.4481T>C (p.Ile1494Thr) rs1396783522 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.5303G>A (p.Arg1768Gln) rs781557550 0.00003
NM_018136.5(ASPM):c.5603G>A (p.Arg1868Lys) rs761106315 0.00003
NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe) rs371020085 0.00003
NM_018136.5(ASPM):c.7452A>G (p.Ala2484=) rs145884637 0.00003
NM_018136.5(ASPM):c.7521A>G (p.Ser2507=) rs557610850 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.7993C>T (p.Arg2665Cys) rs201881549 0.00003
NM_018136.5(ASPM):c.8523A>G (p.Leu2841=) rs587783281 0.00003
NM_018136.5(ASPM):c.8587G>T (p.Ala2863Ser) rs1374224839 0.00003
NM_018136.5(ASPM):c.861T>C (p.Asn287=) rs139670577 0.00003
NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr) rs775263946 0.00003
NM_018136.5(ASPM):c.8779C>T (p.Arg2927Trp) rs759301866 0.00003
NM_018136.5(ASPM):c.8821-9A>G rs375911555 0.00003
NM_018136.5(ASPM):c.8986C>T (p.Arg2996Trp) rs772813676 0.00003
NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp) rs758869894 0.00003
NM_018136.5(ASPM):c.927A>G (p.Thr309=) rs963153105 0.00003
NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro) rs375985254 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.1790G>A (p.Arg597Gln) rs377444313 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.2064C>T (p.Asn688=) rs199588137 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018136.5(ASPM):c.2419+2T>C rs587783225 0.00002
NM_018136.5(ASPM):c.2420-12C>T rs756939363 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.2930G>A (p.Arg977His) rs767547880 0.00002
NM_018136.5(ASPM):c.309A>G (p.Lys103=) rs587783229 0.00002
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys) rs199874115 0.00002
NM_018136.5(ASPM):c.3938G>A (p.Arg1313Lys) rs200733896 0.00002
NM_018136.5(ASPM):c.4209T>C (p.His1403=) rs776523167 0.00002
NM_018136.5(ASPM):c.4346T>C (p.Leu1449Ser) rs763268459 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.5538T>C (p.Ser1846=) rs138311889 0.00002
NM_018136.5(ASPM):c.5656C>T (p.Arg1886Cys) rs781257567 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.5860C>G (p.Leu1954Val) rs781446128 0.00002
NM_018136.5(ASPM):c.5939A>G (p.Tyr1980Cys) rs769860568 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.6765T>G (p.Ala2255=) rs372117505 0.00002
NM_018136.5(ASPM):c.6812G>A (p.Arg2271Lys) rs565102826 0.00002
NM_018136.5(ASPM):c.6816A>G (p.Arg2272=) rs769659035 0.00002
NM_018136.5(ASPM):c.6835A>G (p.Arg2279Gly) rs373818179 0.00002
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=) rs756622578 0.00002
NM_018136.5(ASPM):c.6920A>G (p.Gln2307Arg) rs775642269 0.00002
NM_018136.5(ASPM):c.7025A>C (p.Gln2342Pro) rs772818033 0.00002
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val) rs372416792 0.00002
NM_018136.5(ASPM):c.8383C>G (p.Gln2795Glu) rs776299348 0.00002
NM_018136.5(ASPM):c.8838T>C (p.Tyr2946=) rs746637313 0.00002
NM_018136.5(ASPM):c.9229A>G (p.Ile3077Val) rs758783903 0.00002
NM_018136.5(ASPM):c.9444+9C>A rs374543021 0.00002
NM_018136.5(ASPM):c.9578G>A (p.Arg3193His) rs373418682 0.00002
NM_018136.5(ASPM):c.9637-20C>T rs376437905 0.00002
NM_018136.5(ASPM):c.9834A>G (p.Val3278=) rs201072395 0.00002
NM_018136.5(ASPM):c.10013A>T (p.Asp3338Val) rs1390576128 0.00001
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.10148C>T (p.Thr3383Ile) rs375363647 0.00001
NM_018136.5(ASPM):c.1076A>G (p.His359Arg) rs534221332 0.00001
NM_018136.5(ASPM):c.1211T>C (p.Met404Thr) rs1159195324 0.00001
NM_018136.5(ASPM):c.1302T>G (p.Val434=) rs1362146924 0.00001
NM_018136.5(ASPM):c.1353dup (p.Glu452Ter) rs774814318 0.00001
NM_018136.5(ASPM):c.1648C>A (p.Pro550Thr) rs764977482 0.00001
NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) rs555866170 0.00001
NM_018136.5(ASPM):c.1698G>A (p.Ser566=) rs372072744 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.1989A>G (p.Ala663=) rs774842102 0.00001
NM_018136.5(ASPM):c.1A>C (p.Met1Leu) rs767335874 0.00001
NM_018136.5(ASPM):c.2009T>G (p.Ile670Arg) rs1429110638 0.00001
NM_018136.5(ASPM):c.2047C>T (p.Pro683Ser) rs750514175 0.00001
NM_018136.5(ASPM):c.2062A>C (p.Asn688His) rs775158833 0.00001
NM_018136.5(ASPM):c.2139T>C (p.Pro713=) rs746872796 0.00001
NM_018136.5(ASPM):c.2144A>T (p.Asp715Val) rs771693058 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_018136.5(ASPM):c.2254T>G (p.Ser752Ala) rs794727806 0.00001
NM_018136.5(ASPM):c.2312G>A (p.Arg771His) rs375059809 0.00001
NM_018136.5(ASPM):c.2409G>A (p.Trp803Ter) rs1057518269 0.00001
NM_018136.5(ASPM):c.2488-1G>C rs1321892596 0.00001
NM_018136.5(ASPM):c.2491A>G (p.Thr831Ala) rs1005582054 0.00001
NM_018136.5(ASPM):c.2509T>C (p.Ser837Pro) rs763288947 0.00001
NM_018136.5(ASPM):c.2582T>C (p.Ile861Thr) rs368796558 0.00001
NM_018136.5(ASPM):c.266T>A (p.Phe89Tyr) rs149942873 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.2834G>T (p.Gly945Val) rs1235898043 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.2893G>A (p.Val965Ile) rs778251863 0.00001
NM_018136.5(ASPM):c.2908G>A (p.Val970Ile) rs754615321 0.00001
NM_018136.5(ASPM):c.2936+5G>A rs199422150 0.00001
NM_018136.5(ASPM):c.297+10A>G rs770381141 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018136.5(ASPM):c.3169-12T>C rs1322697936 0.00001
NM_018136.5(ASPM):c.3195A>G (p.Gln1065=) rs757423960 0.00001
NM_018136.5(ASPM):c.3244A>G (p.Thr1082Ala) rs149330414 0.00001
NM_018136.5(ASPM):c.3254T>G (p.Leu1085Arg) rs747679648 0.00001
NM_018136.5(ASPM):c.3477C>T (p.Asp1159=) rs780036327 0.00001
NM_018136.5(ASPM):c.3592G>C (p.Asp1198His) rs757999177 0.00001
NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp) rs867611929 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.3846A>G (p.Leu1282=) rs745539946 0.00001
NM_018136.5(ASPM):c.396C>G (p.His132Gln) rs761152464 0.00001
NM_018136.5(ASPM):c.3980G>A (p.Arg1327Gln) rs776913294 0.00001
NM_018136.5(ASPM):c.4008A>G (p.Leu1336=) rs181201233 0.00001
NM_018136.5(ASPM):c.4029G>A (p.Leu1343=) rs138508558 0.00001
NM_018136.5(ASPM):c.403A>G (p.Ile135Val) rs1218695206 0.00001
NM_018136.5(ASPM):c.4048G>A (p.Ala1350Thr) rs758550029 0.00001
NM_018136.5(ASPM):c.4288A>C (p.Met1430Leu) rs1329842909 0.00001
NM_018136.5(ASPM):c.4310G>A (p.Arg1437His) rs576920584 0.00001
NM_018136.5(ASPM):c.4336A>G (p.Thr1446Ala) rs1557948352 0.00001
NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly) rs769921325 0.00001
NM_018136.5(ASPM):c.4387A>G (p.Lys1463Glu) rs794727211 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.4600T>C (p.Tyr1534His) rs1657346860 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.4854T>G (p.Ala1618=) rs1571602243 0.00001
NM_018136.5(ASPM):c.4877T>C (p.Leu1626Pro) rs781266143 0.00001
NM_018136.5(ASPM):c.4951A>G (p.Met1651Val) rs772751994 0.00001
NM_018136.5(ASPM):c.4964T>G (p.Ile1655Ser) rs531576469 0.00001
NM_018136.5(ASPM):c.5000G>A (p.Arg1667His) rs754282386 0.00001
NM_018136.5(ASPM):c.5041G>A (p.Ala1681Thr) rs749889567 0.00001
NM_018136.5(ASPM):c.5128C>A (p.Gln1710Lys) rs998666143 0.00001
NM_018136.5(ASPM):c.5209G>A (p.Ala1737Thr) rs1440991737 0.00001
NM_018136.5(ASPM):c.5244G>A (p.Met1748Ile) rs758202345 0.00001
NM_018136.5(ASPM):c.5264T>C (p.Val1755Ala) rs776605087 0.00001
NM_018136.5(ASPM):c.5454C>A (p.Arg1818=) rs1029597546 0.00001
NM_018136.5(ASPM):c.5476A>G (p.Ile1826Val) rs750236721 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.5701G>A (p.Ala1901Thr) rs752011786 0.00001
NM_018136.5(ASPM):c.5762A>G (p.Lys1921Arg) rs1051721111 0.00001
NM_018136.5(ASPM):c.5850G>A (p.Ala1950=) rs537962201 0.00001
NM_018136.5(ASPM):c.6022A>G (p.Ser2008Gly) rs751315317 0.00001
NM_018136.5(ASPM):c.6107T>G (p.Val2036Gly) rs763984813 0.00001
NM_018136.5(ASPM):c.6129C>T (p.Cys2043=) rs752566786 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.6338T>C (p.Ile2113Thr) rs375913831 0.00001
NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu) rs937207468 0.00001
NM_018136.5(ASPM):c.6457T>C (p.Tyr2153His) rs1183851640 0.00001
NM_018136.5(ASPM):c.6557T>C (p.Leu2186Pro) rs1398749301 0.00001
NM_018136.5(ASPM):c.659C>T (p.Pro220Leu) rs749422547 0.00001
NM_018136.5(ASPM):c.6686G>C (p.Arg2229Thr) rs745714332 0.00001
NM_018136.5(ASPM):c.6708T>A (p.Tyr2236Ter) rs778859631 0.00001
NM_018136.5(ASPM):c.6759G>A (p.Lys2253=) rs748364690 0.00001
NM_018136.5(ASPM):c.6882A>G (p.Arg2294=) rs560754851 0.00001
NM_018136.5(ASPM):c.6890G>A (p.Arg2297Gln) rs1260749790 0.00001
NM_018136.5(ASPM):c.6960A>G (p.Ser2320=) rs587783260 0.00001
NM_018136.5(ASPM):c.69G>A (p.Gly23=) rs762856685 0.00001
NM_018136.5(ASPM):c.7082C>G (p.Ser2361Cys) rs368151024 0.00001
NM_018136.5(ASPM):c.7149A>G (p.Arg2383=) rs1328600183 0.00001
NM_018136.5(ASPM):c.7206A>G (p.Arg2402=) rs749944950 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln) rs751584273 0.00001
NM_018136.5(ASPM):c.7564T>C (p.Leu2522=) rs1179002848 0.00001
NM_018136.5(ASPM):c.7578T>C (p.Asn2526=) rs774126283 0.00001
NM_018136.5(ASPM):c.7950A>G (p.Thr2650=) rs758042126 0.00001
NM_018136.5(ASPM):c.8058A>C (p.Gln2686His) rs747336758 0.00001
NM_018136.5(ASPM):c.8079A>G (p.Thr2693=) rs370471247 0.00001
NM_018136.5(ASPM):c.8094C>T (p.Phe2698=) rs1657158609 0.00001
NM_018136.5(ASPM):c.8124T>G (p.Tyr2708Ter) rs876661036 0.00001
NM_018136.5(ASPM):c.8202C>T (p.Asn2734=) rs751417978 0.00001
NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val) rs140656421 0.00001
NM_018136.5(ASPM):c.8345C>G (p.Thr2782Ser) rs142244523 0.00001
NM_018136.5(ASPM):c.8349G>A (p.Gln2783=) rs764359670 0.00001
NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser) rs966129910 0.00001
NM_018136.5(ASPM):c.8388G>A (p.Glu2796=) rs746942806 0.00001
NM_018136.5(ASPM):c.8476T>C (p.Cys2826Arg) rs760313197 0.00001
NM_018136.5(ASPM):c.853A>T (p.Asn285Tyr) rs1263905709 0.00001
NM_018136.5(ASPM):c.8555A>G (p.Tyr2852Cys) rs758945213 0.00001
NM_018136.5(ASPM):c.8577G>C (p.Gln2859His) rs766154891 0.00001
NM_018136.5(ASPM):c.8590A>G (p.Ile2864Val) rs759761851 0.00001
NM_018136.5(ASPM):c.8612G>A (p.Arg2871Lys) rs749128025 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.8733C>T (p.Ser2911=) rs1571596795 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.8955A>G (p.Gln2985=) rs765715567 0.00001
NM_018136.5(ASPM):c.9084+4G>A rs762302327 0.00001
NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) rs79899243 0.00001
NM_018136.5(ASPM):c.9189A>G (p.Ile3063Met) rs765867212 0.00001
NM_018136.5(ASPM):c.9303A>G (p.Glu3101=) rs970808820 0.00001
NM_018136.5(ASPM):c.9383A>G (p.Tyr3128Cys) rs140119849 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9463T>G (p.Leu3155Val) rs370863233 0.00001
NM_018136.5(ASPM):c.9567G>A (p.Gln3189=) rs1329510118 0.00001
NM_018136.5(ASPM):c.9645G>A (p.Trp3215Ter) rs1394353328 0.00001
NM_018136.5(ASPM):c.9647G>A (p.Arg3216Lys) rs376525687 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
GRCh37/hg19 1q31.3(chr1:197099068-197112094)x3
NM_018136.5(ASPM):c.10001CAG[1] (p.Ala3335del) rs1329111431
NM_018136.5(ASPM):c.10005A>C (p.Ala3335=)
NM_018136.5(ASPM):c.10034T>A (p.Ile3345Lys)
NM_018136.5(ASPM):c.1005A>G (p.Val335=)
NM_018136.5(ASPM):c.1008A>G (p.Thr336=)
NM_018136.5(ASPM):c.10126T>C (p.Leu3376=)
NM_018136.5(ASPM):c.10145C>T (p.Thr3382Ile)
NM_018136.5(ASPM):c.10147A>G (p.Thr3383Ala)
NM_018136.5(ASPM):c.10156G>C (p.Ala3386Pro) rs1388514465
NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)
NM_018136.5(ASPM):c.10192C>T (p.Arg3398Cys)
NM_018136.5(ASPM):c.10253_10257del (p.Leu3418fs)
NM_018136.5(ASPM):c.10259A>G (p.Lys3420Arg)
NM_018136.5(ASPM):c.10296C>T (p.Ile3432=)
NM_018136.5(ASPM):c.1029T>C (p.Phe343=)
NM_018136.5(ASPM):c.10310T>A (p.Val3437Glu)
NM_018136.5(ASPM):c.10331+5G>T rs368843607
NM_018136.5(ASPM):c.10332-13T>C rs1558319794
NM_018136.5(ASPM):c.10332-20dup rs200839523
NM_018136.5(ASPM):c.10332-40_10332-38del rs537718986
NM_018136.5(ASPM):c.10332-6del rs200839523
NM_018136.5(ASPM):c.10335T>G (p.Leu3445=)
NM_018136.5(ASPM):c.10337del (p.Lys3446fs) rs1553325275
NM_018136.5(ASPM):c.10346G>T (p.Trp3449Leu)
NM_018136.5(ASPM):c.10364A>T (p.Asn3455Ile)
NM_018136.5(ASPM):c.10369del (p.Glu3457fs) rs773107901
NM_018136.5(ASPM):c.10374A>G (p.Glu3458=) rs2125085174
NM_018136.5(ASPM):c.1040A>G (p.Asn347Ser)
NM_018136.5(ASPM):c.10415C>T (p.Thr3472Met)
NM_018136.5(ASPM):c.1048C>T (p.Pro350Ser) rs2125114330
NM_018136.5(ASPM):c.1074A>T (p.Ala358=)
NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)
NM_018136.5(ASPM):c.1113C>G (p.Phe371Leu)
NM_018136.5(ASPM):c.1132C>G (p.Leu378Val)
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1141G>A (p.Asp381Asn)
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1162A>C (p.Asn388His)
NM_018136.5(ASPM):c.1170T>A (p.Ile390=)
NM_018136.5(ASPM):c.1172T>A (p.Leu391Ter)
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1194A>G (p.Lys398=) rs2125114214
NM_018136.5(ASPM):c.1196A>T (p.Asp399Val) rs1557965585
NM_018136.5(ASPM):c.1235_1239del (p.Lys412fs) rs1291666293
NM_018136.5(ASPM):c.1238T>A (p.Val413Glu) rs794727514
NM_018136.5(ASPM):c.1242A>G (p.Pro414=)
NM_018136.5(ASPM):c.1271A>G (p.Gln424Arg) rs142702540
NM_018136.5(ASPM):c.1273T>C (p.Ser425Pro)
NM_018136.5(ASPM):c.1300G>C (p.Val434Leu)
NM_018136.5(ASPM):c.1328G>A (p.Gly443Asp) rs568737007
NM_018136.5(ASPM):c.1364T>C (p.Val455Ala)
NM_018136.5(ASPM):c.1380T>C (p.Asn460=)
NM_018136.5(ASPM):c.1386_1387del (p.Tyr462_Ser463delinsTer)
NM_018136.5(ASPM):c.1408C>G (p.Pro470Ala)
NM_018136.5(ASPM):c.1409_1411delinsTT (p.Pro470fs) rs1571630284
NM_018136.5(ASPM):c.1429G>A (p.Asp477Asn)
NM_018136.5(ASPM):c.1450A>G (p.Asn484Asp)
NM_018136.5(ASPM):c.1460C>T (p.Pro487Leu)
NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)
NM_018136.5(ASPM):c.1550_1575dup (p.Gly526fs)
NM_018136.5(ASPM):c.1597AAT[1] (p.Asn534del) rs2125113860
NM_018136.5(ASPM):c.1599T>A (p.Asn533Lys)
NM_018136.5(ASPM):c.1603_1607del (p.Gln535fs)
NM_018136.5(ASPM):c.1610A>T (p.Glu537Val)
NM_018136.5(ASPM):c.1615_1616del (p.Glu539fs) rs1285151453
NM_018136.5(ASPM):c.1617A>G (p.Glu539=)
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs) rs199422144
NM_018136.5(ASPM):c.1632T>C (p.Tyr544=)
NM_018136.5(ASPM):c.1672T>G (p.Tyr558Asp) rs1386556330
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_018136.5(ASPM):c.1680C>T (p.Asn560=)
NM_018136.5(ASPM):c.1683G>C (p.Glu561Asp)
NM_018136.5(ASPM):c.1688C>A (p.Thr563Lys)
NM_018136.5(ASPM):c.1689A>G (p.Thr563=)
NM_018136.5(ASPM):c.1697C>A (p.Ser566Ter) rs555866170
NM_018136.5(ASPM):c.1698G>C (p.Ser566=)
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.1731C>T (p.Ser577=)
NM_018136.5(ASPM):c.1767A>T (p.Ala589=) rs2125113701
NM_018136.5(ASPM):c.1801del (p.Arg601fs) rs2125113678
NM_018136.5(ASPM):c.1808A>C (p.His603Pro)
NM_018136.5(ASPM):c.1845_1847del (p.Lys616del) rs750297982
NM_018136.5(ASPM):c.1849A>T (p.Thr617Ser)
NM_018136.5(ASPM):c.1880G>A (p.Arg627His) rs373594954
NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1908GAA[2] (p.Lys639del)
NM_018136.5(ASPM):c.1921+257_1921+259del rs200309104
NM_018136.5(ASPM):c.1921+3G>A
NM_018136.5(ASPM):c.1922-9T>C
NM_018136.5(ASPM):c.1926A>G (p.Leu642=) rs2125112419
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.1976T>C (p.Ile659Thr)
NM_018136.5(ASPM):c.1980C>A (p.Ile660=) rs151087446
NM_018136.5(ASPM):c.1981G>A (p.Ala661Thr)
NM_018136.5(ASPM):c.1983T>C (p.Ala661=)
NM_018136.5(ASPM):c.2003C>A (p.Thr668Asn)
NM_018136.5(ASPM):c.2017T>C (p.Leu673=)
NM_018136.5(ASPM):c.2026+15_2026+20del rs755758403
NM_018136.5(ASPM):c.2027-13del rs773675080
NM_018136.5(ASPM):c.2027-17C>A rs368979133
NM_018136.5(ASPM):c.2027-17C>T rs368979133
NM_018136.5(ASPM):c.2042C>T (p.Pro681Leu) rs753945250
NM_018136.5(ASPM):c.2053G>A (p.Ala685Thr) rs2125110399
NM_018136.5(ASPM):c.2093del (p.Lys698fs) rs765613900
NM_018136.5(ASPM):c.2096A>C (p.Gln699Pro)
NM_018136.5(ASPM):c.2120T>A (p.Leu707Ter) rs1553227015
NM_018136.5(ASPM):c.2137C>T (p.Pro713Ser)
NM_018136.5(ASPM):c.2145C>G (p.Asp715Glu)
NM_018136.5(ASPM):c.2158dup (p.Thr720fs)
NM_018136.5(ASPM):c.2173+76del rs35659894
NM_018136.5(ASPM):c.2173G>C (p.Val725Leu) rs2125110318
NM_018136.5(ASPM):c.2174-114T>G rs4915345
NM_018136.5(ASPM):c.2174-303_2174-302del rs201492897
NM_018136.5(ASPM):c.2174-4C>G rs777766951
NM_018136.5(ASPM):c.2214T>C (p.His738=) rs1020164709
NM_018136.5(ASPM):c.2217_2221del (p.Ile740fs)
NM_018136.5(ASPM):c.2226T>C (p.Val742=)
NM_018136.5(ASPM):c.2316_2319del (p.Phe773fs)
NM_018136.5(ASPM):c.2349A>C (p.Lys783Asn)
NM_018136.5(ASPM):c.2371G>A (p.Ala791Thr)
NM_018136.5(ASPM):c.2375G>A (p.Arg792Lys)
NM_018136.5(ASPM):c.2377C>A (p.Arg793=) rs779018406
NM_018136.5(ASPM):c.2385T>C (p.Ile795=)
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2393A>C (p.Lys798Thr)
NM_018136.5(ASPM):c.2419+13C>T
NM_018136.5(ASPM):c.2419+18A>C
NM_018136.5(ASPM):c.2419+306G>A rs116303796
NM_018136.5(ASPM):c.2419+6_2419+7insCTT
NM_018136.5(ASPM):c.2419+6delinsTCTT rs1064795163
NM_018136.5(ASPM):c.2420-11A>T
NM_018136.5(ASPM):c.2420-2A>G
NM_018136.5(ASPM):c.2425C>T (p.Arg809Cys)
NM_018136.5(ASPM):c.2436C>T (p.Val812=)
NM_018136.5(ASPM):c.2462C>T (p.Pro821Leu)
NM_018136.5(ASPM):c.2487+125C>A rs113682374
NM_018136.5(ASPM):c.2487+18del rs752298948
NM_018136.5(ASPM):c.2488-12A>C
NM_018136.5(ASPM):c.2495dup (p.Tyr832Ter)
NM_018136.5(ASPM):c.2512T>G (p.Leu838Val)
NM_018136.5(ASPM):c.2520T>C (p.Asp840=)
NM_018136.5(ASPM):c.2540T>G (p.Leu847Trp) rs2125107891
NM_018136.5(ASPM):c.2546T>C (p.Met849Thr)
NM_018136.5(ASPM):c.2557A>C (p.Asn853His) rs1553226464
NM_018136.5(ASPM):c.2562C>G (p.Arg854=)
NM_018136.5(ASPM):c.2592G>A (p.Glu864=) rs769421796
NM_018136.5(ASPM):c.2601C>G (p.His867Gln)
NM_018136.5(ASPM):c.2629+11C>T
NM_018136.5(ASPM):c.2629+1G>T
NM_018136.5(ASPM):c.2629+4_2629+7del rs1433248622
NM_018136.5(ASPM):c.2630-14G>A rs2125107558
NM_018136.5(ASPM):c.2630-20T>C
NM_018136.5(ASPM):c.2634T>C (p.His878=)
NM_018136.5(ASPM):c.2641G>C (p.Ala881Pro) rs142743598
NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)
NM_018136.5(ASPM):c.2659T>G (p.Leu887Val)
NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) rs755211990
NM_018136.5(ASPM):c.267C>A (p.Phe89Leu)
NM_018136.5(ASPM):c.2710del (p.Arg904fs)
NM_018136.5(ASPM):c.2746G>A (p.Asp916Asn) rs747141877
NM_018136.5(ASPM):c.275_290del (p.Ser92fs) rs2125115970
NM_018136.5(ASPM):c.2760+12A>G
NM_018136.5(ASPM):c.2761-100_2761-97del rs150344996
NM_018136.5(ASPM):c.2761-10T>C
NM_018136.5(ASPM):c.2770G>T (p.Glu924Ter) rs749462358
NM_018136.5(ASPM):c.27C>G (p.Gly9=)
NM_018136.5(ASPM):c.2838A>T (p.Leu946Phe)
NM_018136.5(ASPM):c.2892C>T (p.Ala964=)
NM_018136.5(ASPM):c.2907C>T (p.Ala969=)
NM_018136.5(ASPM):c.2922T>A (p.Cys974Ter) rs886041720
NM_018136.5(ASPM):c.2936+11_2936+14del rs745619939
NM_018136.5(ASPM):c.2936+132_2936+133dup rs200280533
NM_018136.5(ASPM):c.2936+132dup rs200280533
NM_018136.5(ASPM):c.2936+17G>T
NM_018136.5(ASPM):c.2936+7A>G rs768594821
NM_018136.5(ASPM):c.2943C>G (p.Thr981=) rs1235568030
NM_018136.5(ASPM):c.2947G>T (p.Glu983Ter) rs1571616951
NM_018136.5(ASPM):c.2954_2955del (p.Leu985fs)
NM_018136.5(ASPM):c.297+15dup
NM_018136.5(ASPM):c.297+265_297+266del rs563345090
NM_018136.5(ASPM):c.297+274AT[10] rs71131744
NM_018136.5(ASPM):c.297+274AT[7] rs71131744
NM_018136.5(ASPM):c.297+274AT[8] rs71131744
NM_018136.5(ASPM):c.297+274AT[9] rs71131744
NM_018136.5(ASPM):c.297+7C>T rs1571633657
NM_018136.5(ASPM):c.297G>T (p.Gln99His)
NM_018136.5(ASPM):c.2992C>T (p.Pro998Ser)
NM_018136.5(ASPM):c.2993C>T (p.Pro998Leu)
NM_018136.5(ASPM):c.3005G>A (p.Arg1002His) rs749600804
NM_018136.5(ASPM):c.3031A>G (p.Ile1011Val)
NM_018136.5(ASPM):c.3042A>G (p.Gln1014=)
NM_018136.5(ASPM):c.3042A>T (p.Gln1014His)
NM_018136.5(ASPM):c.3046C>T (p.Leu1016Phe)
NM_018136.5(ASPM):c.3078G>A (p.Glu1026=)
NM_018136.5(ASPM):c.3082+1G>C rs886041709
NM_018136.5(ASPM):c.3082+6A>T
NM_018136.5(ASPM):c.3083-37C>G rs117983032
NM_018136.5(ASPM):c.3083G>A (p.Gly1028Glu)
NM_018136.5(ASPM):c.3089C>T (p.Thr1030Ile) rs1571616712
NM_018136.5(ASPM):c.3122G>C (p.Arg1041Thr)
NM_018136.5(ASPM):c.3168+168A>G rs4915338
NM_018136.5(ASPM):c.3168+168AT[8] rs34471103
NM_018136.5(ASPM):c.3168+18C>T rs2125105490
NM_018136.5(ASPM):c.3168+5_3168+7del
NM_018136.5(ASPM):c.3169-2_3169-1insAA rs761193121
NM_018136.5(ASPM):c.3173A>C (p.Asp1058Ala) rs1330310833
NM_018136.5(ASPM):c.3176T>G (p.Ile1059Ser)
NM_018136.5(ASPM):c.3183T>C (p.Leu1061=) rs868630671
NM_018136.5(ASPM):c.3185_3189del (p.Asn1062fs)
NM_018136.5(ASPM):c.3204A>G (p.Glu1068=) rs2125105237
NM_018136.5(ASPM):c.3223C>G (p.His1075Asp) rs763084553
NM_018136.5(ASPM):c.3227C>A (p.Thr1076Lys)
NM_018136.5(ASPM):c.3229A>T (p.Lys1077Ter) rs139317695
NM_018136.5(ASPM):c.3253C>G (p.Leu1085Val) rs540483849
NM_018136.5(ASPM):c.3303G>A (p.Arg1101=)
NM_018136.5(ASPM):c.3326A>G (p.Tyr1109Cys) rs1557956580
NM_018136.5(ASPM):c.3328A>G (p.Ser1110Gly)
NM_018136.5(ASPM):c.3367G>C (p.Val1123Leu) rs1057523743
NM_018136.5(ASPM):c.3374C>T (p.Ala1125Val)
NM_018136.5(ASPM):c.3383A>C (p.Asn1128Thr)
NM_018136.5(ASPM):c.3391-18del
NM_018136.5(ASPM):c.3391-2A>G
NM_018136.5(ASPM):c.3395A>T (p.Glu1132Val) rs1479404298
NM_018136.5(ASPM):c.3397A>G (p.Asn1133Asp) rs1204696178
NM_018136.5(ASPM):c.3428dup (p.Leu1144fs) rs886041721
NM_018136.5(ASPM):c.3471A>G (p.Pro1157=) rs749353893
NM_018136.5(ASPM):c.3490C>T (p.Arg1164Cys)
NM_018136.5(ASPM):c.3505G>T (p.Val1169Leu) rs1657942497
NM_018136.5(ASPM):c.3519A>G (p.Gln1173=)
NM_018136.5(ASPM):c.3547T>A (p.Ser1183Thr) rs1085307705
NM_018136.5(ASPM):c.3554C>A (p.Ser1185Tyr)
NM_018136.5(ASPM):c.3556G>C (p.Asp1186His)
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe) rs143805893
NM_018136.5(ASPM):c.3569T>C (p.Leu1190Pro) rs781537691
NM_018136.5(ASPM):c.3584A>G (p.Lys1195Arg)
NM_018136.5(ASPM):c.3588A>G (p.Ala1196=)
NM_018136.5(ASPM):c.358G>A (p.Glu120Lys)
NM_018136.5(ASPM):c.3596A>G (p.His1199Arg)
NM_018136.5(ASPM):c.3599-12C>T rs567865981
NM_018136.5(ASPM):c.3599-20C>T
NM_018136.5(ASPM):c.3637G>A (p.Glu1213Lys)
NM_018136.5(ASPM):c.3687A>G (p.Gly1229=) rs2125104275
NM_018136.5(ASPM):c.370T>C (p.Phe124Leu) rs764255993
NM_018136.5(ASPM):c.3715A>G (p.Met1239Val)
NM_018136.5(ASPM):c.3733G>A (p.Asp1245Asn)
NM_018136.5(ASPM):c.3741+12A>G
NM_018136.5(ASPM):c.3741+1G>A rs199422160
NM_018136.5(ASPM):c.3742-15G>C
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.3752C>G (p.Thr1251Ser)
NM_018136.5(ASPM):c.3759G>A (p.Leu1253=)
NM_018136.5(ASPM):c.3774A>G (p.Ala1258=)
NM_018136.5(ASPM):c.3790C>T (p.Arg1264Cys)
NM_018136.5(ASPM):c.3803G>A (p.Arg1268Lys) rs1316929291
NM_018136.5(ASPM):c.3819A>C (p.Ile1273=)
NM_018136.5(ASPM):c.3829T>A (p.Trp1277Arg)
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs) rs587783239
NM_018136.5(ASPM):c.3860A>G (p.Lys1287Arg)
NM_018136.5(ASPM):c.3862C>T (p.Arg1288Cys)
NM_018136.5(ASPM):c.3873G>A (p.Glu1291=) rs1571612019
NM_018136.5(ASPM):c.3900A>G (p.Gln1300=)
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.3948T>A (p.Val1316=)
NM_018136.5(ASPM):c.3964A>T (p.Ile1322Phe)
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.3979C>T (p.Arg1327Ter) rs886039310
NM_018136.5(ASPM):c.4010T>C (p.Met1337Thr)
NM_018136.5(ASPM):c.4020G>A (p.Lys1340=)
NM_018136.5(ASPM):c.4022A>C (p.Glu1341Ala) rs2125102450
NM_018136.5(ASPM):c.4034A>C (p.Lys1345Thr)
NM_018136.5(ASPM):c.4056A>G (p.Ser1352=)
NM_018136.5(ASPM):c.4065+10C>T
NM_018136.5(ASPM):c.4066-18C>T
NM_018136.5(ASPM):c.4066-222A>T rs112887421
NM_018136.5(ASPM):c.4066-4C>T
NM_018136.5(ASPM):c.4083T>C (p.Tyr1361=)
NM_018136.5(ASPM):c.4101T>A (p.Phe1367Leu)
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4119T>C (p.Tyr1373=)
NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)
NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)
NM_018136.5(ASPM):c.4165T>C (p.Ser1389Pro) rs548193246
NM_018136.5(ASPM):c.4175G>C (p.Arg1392Pro) rs765050426
NM_018136.5(ASPM):c.4180C>A (p.Leu1394Ile) rs759544893
NM_018136.5(ASPM):c.4180C>T (p.Leu1394Phe) rs759544893
NM_018136.5(ASPM):c.4184G>A (p.Trp1395Ter)
NM_018136.5(ASPM):c.41G>C (p.Ser14Thr)
NM_018136.5(ASPM):c.4208A>G (p.His1403Arg)
NM_018136.5(ASPM):c.420A>C (p.Ala140=) rs1557966450
NM_018136.5(ASPM):c.4242A>G (p.Gln1414=)
NM_018136.5(ASPM):c.4280T>C (p.Ile1427Thr) rs1657364469
NM_018136.5(ASPM):c.42C>A (p.Ser14Arg) rs1658785754
NM_018136.5(ASPM):c.4317G>A (p.Met1439Ile) rs1657362655
NM_018136.5(ASPM):c.4326A>C (p.Gln1442His) rs753834923
NM_018136.5(ASPM):c.4342A>G (p.Ile1448Val)
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4367G>A (p.Trp1456Ter)
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter) rs2125096695
NM_018136.5(ASPM):c.4390GAA[1] (p.Glu1465del)
NM_018136.5(ASPM):c.4394A>G (p.Glu1465Gly) rs2125096686
NM_018136.5(ASPM):c.4407del (p.Ile1470fs)
NM_018136.5(ASPM):c.4409T>C (p.Ile1470Thr)
NM_018136.5(ASPM):c.441+4A>G
NM_018136.5(ASPM):c.4414C>T (p.Gln1472Ter) rs2125096662
NM_018136.5(ASPM):c.4417T>G (p.Ser1473Ala) rs886043266
NM_018136.5(ASPM):c.442-4G>T rs1571631775
NM_018136.5(ASPM):c.4438_4440dup (p.Glu1480dup) rs769728447
NM_018136.5(ASPM):c.4463G>A (p.Arg1488Lys)
NM_018136.5(ASPM):c.4476T>A (p.Val1492=) rs1557948222
NM_018136.5(ASPM):c.4515G>C (p.Lys1505Asn) rs1553223789
NM_018136.5(ASPM):c.4524A>G (p.Lys1508=)
NM_018136.5(ASPM):c.4537T>G (p.Ser1513Ala)
NM_018136.5(ASPM):c.4540A>G (p.Ile1514Val)
NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)
NM_018136.5(ASPM):c.456T>C (p.Asp152=)
NM_018136.5(ASPM):c.4592G>A (p.Arg1531His) rs200681905
NM_018136.5(ASPM):c.4606del (p.Gln1536fs)
NM_018136.5(ASPM):c.4624A>G (p.Ile1542Val)
NM_018136.5(ASPM):c.4655A>G (p.Lys1552Arg)
NM_018136.5(ASPM):c.4661A>G (p.His1554Arg) rs768039817
NM_018136.5(ASPM):c.4691G>A (p.Cys1564Tyr)
NM_018136.5(ASPM):c.4691G>T (p.Cys1564Phe)
NM_018136.5(ASPM):c.4693del (p.Val1565fs)
NM_018136.5(ASPM):c.4708T>G (p.Trp1570Gly)
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4732C>T (p.Arg1578Ter) rs753406334
NM_018136.5(ASPM):c.4775A>G (p.His1592Arg)
NM_018136.5(ASPM):c.4787A>G (p.His1596Arg)
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.4806T>C (p.Tyr1602=)
NM_018136.5(ASPM):c.4806T>G (p.Tyr1602Ter)
NM_018136.5(ASPM):c.4844A>C (p.His1615Pro) rs1422965525
NM_018136.5(ASPM):c.4846T>A (p.Phe1616Ile) rs1657332165
NM_018136.5(ASPM):c.4870delinsTATATTCTGGT (p.Lys1624fs) rs2125096288
NM_018136.5(ASPM):c.4881A>G (p.Ala1627=)
NM_018136.5(ASPM):c.4926A>G (p.Ala1642=)
NM_018136.5(ASPM):c.4962C>T (p.His1654=)
NM_018136.5(ASPM):c.4975G>C (p.Val1659Leu)
NM_018136.5(ASPM):c.4987C>G (p.Gln1663Glu)
NM_018136.5(ASPM):c.4999C>T (p.Arg1667Cys)
NM_018136.5(ASPM):c.4999_5000delinsTT (p.Arg1667Phe)
NM_018136.5(ASPM):c.505G>A (p.Val169Ile) rs1557966244
NM_018136.5(ASPM):c.5064del (p.Val1689fs) rs786205609
NM_018136.5(ASPM):c.5084G>A (p.Arg1695His) rs541097917
NM_018136.5(ASPM):c.5084G>T (p.Arg1695Leu)
NM_018136.5(ASPM):c.5101_5102insG (p.Leu1701fs) rs1064793707
NM_018136.5(ASPM):c.510A>C (p.Ser170=)
NM_018136.5(ASPM):c.5137C>T (p.Arg1713Cys)
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.5160A>G (p.Gln1720=)
NM_018136.5(ASPM):c.5164A>T (p.Arg1722Ter)
NM_018136.5(ASPM):c.5186G>A (p.Arg1729Gln)
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5210C>A (p.Ala1737Glu)
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.523_524dup (p.Asn176fs) rs1553228009
NM_018136.5(ASPM):c.5260G>A (p.Ala1754Thr) rs765319168
NM_018136.5(ASPM):c.5276A>T (p.Gln1759Leu)
NM_018136.5(ASPM):c.5409del (p.Ala1804fs) rs1461653803
NM_018136.5(ASPM):c.5416A>T (p.Thr1806Ser)
NM_018136.5(ASPM):c.5422_5425del (p.Leu1808fs) rs1403868262
NM_018136.5(ASPM):c.5462T>C (p.Ile1821Thr) rs2125095876
NM_018136.5(ASPM):c.5469A>G (p.Gln1823=)
NM_018136.5(ASPM):c.5497T>A (p.Ser1833Thr)
NM_018136.5(ASPM):c.5549C>G (p.Ser1850Cys)
NM_018136.5(ASPM):c.5575A>G (p.Arg1859Gly)
NM_018136.5(ASPM):c.5576G>C (p.Arg1859Thr) rs1657287577
NM_018136.5(ASPM):c.5580G>A (p.Ala1860=)
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
NM_018136.5(ASPM):c.5623A>G (p.Lys1875Glu)
NM_018136.5(ASPM):c.5656C>A (p.Arg1886Ser) rs781257567
NM_018136.5(ASPM):c.5672G>A (p.Arg1891Gln)
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.5694T>G (p.His1898Gln)
NM_018136.5(ASPM):c.573A>C (p.Pro191=) rs763655631
NM_018136.5(ASPM):c.5760T>C (p.Phe1920=)
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter) rs199422134
NM_018136.5(ASPM):c.5784G>C (p.Gln1928His)
NM_018136.5(ASPM):c.5797G>A (p.Ala1933Thr)
NM_018136.5(ASPM):c.5831A>C (p.Tyr1944Ser)
NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)
NM_018136.5(ASPM):c.5889dup (p.Arg1964fs)
NM_018136.5(ASPM):c.5897A>C (p.Gln1966Pro) rs140834556
NM_018136.5(ASPM):c.5897A>G (p.Gln1966Arg) rs140834556
NM_018136.5(ASPM):c.5916A>G (p.Lys1972=)
NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)
NM_018136.5(ASPM):c.5948T>C (p.Met1983Thr)
NM_018136.5(ASPM):c.5962AAG[1] (p.Lys1989del) rs1184704940
NM_018136.5(ASPM):c.5974A>G (p.Ile1992Val)
NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)
NM_018136.5(ASPM):c.5992C>T (p.Leu1998Phe)
NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)
NM_018136.5(ASPM):c.6012_6013del (p.Tyr2004_Arg2005delinsTer)
NM_018136.5(ASPM):c.6015_6016del (p.Arg2005fs)
NM_018136.5(ASPM):c.6042T>C (p.Asn2014=)
NM_018136.5(ASPM):c.6075A>G (p.Val2025=)
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6095G>A (p.Arg2032His)
NM_018136.5(ASPM):c.610G>A (p.Gly204Ser)
NM_018136.5(ASPM):c.6112A>C (p.Lys2038Gln)
NM_018136.5(ASPM):c.6115A>G (p.Arg2039Gly)
NM_018136.5(ASPM):c.6119T>A (p.Ile2040Lys)
NM_018136.5(ASPM):c.6136G>A (p.Ala2046Thr) rs1657254396
NM_018136.5(ASPM):c.6183_6184del (p.Lys2062fs) rs750664956
NM_018136.5(ASPM):c.6185A>T (p.Lys2062Ile)
NM_018136.5(ASPM):c.6215T>C (p.Ile2072Thr) rs1657250805
NM_018136.5(ASPM):c.626A>G (p.Asn209Ser)
NM_018136.5(ASPM):c.6307_6308del (p.Val2103fs) rs1657248003
NM_018136.5(ASPM):c.6335A>G (p.His2112Arg) rs2125095171
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.6347T>A (p.Met2116Lys)
NM_018136.5(ASPM):c.6363T>G (p.Thr2121=)
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.639A>G (p.Ile213Met)
NM_018136.5(ASPM):c.6416T>C (p.Met2139Thr) rs2125095130
NM_018136.5(ASPM):c.6458A>G (p.Tyr2153Cys) rs2125095117
NM_018136.5(ASPM):c.6462T>C (p.Tyr2154=)
NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) rs1267196794
NM_018136.5(ASPM):c.6468T>G (p.Gly2156=)
NM_018136.5(ASPM):c.6482A>G (p.Glu2161Gly)
NM_018136.5(ASPM):c.6510T>G (p.Val2170=)
NM_018136.5(ASPM):c.6545_6548del (p.Val2182fs) rs771583813
NM_018136.5(ASPM):c.6575C>T (p.Ala2192Val)
NM_018136.5(ASPM):c.6585C>T (p.Leu2195=)
NM_018136.5(ASPM):c.6613C>A (p.Gln2205Lys)
NM_018136.5(ASPM):c.6623_6626del (p.Tyr2208fs) rs1571599902
NM_018136.5(ASPM):c.6624C>A (p.Tyr2208Ter) rs1226333994
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.6665G>A (p.Arg2222Lys) rs2125094967
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6692_6693del (p.Ile2231fs)
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys) rs755151801
NM_018136.5(ASPM):c.6712_6715del (p.Asn2237_Lys2238insTer)
NM_018136.5(ASPM):c.6716T>C (p.Leu2239Pro) rs548708212
NM_018136.5(ASPM):c.6736A>C (p.Ile2246Leu) rs886045769
NM_018136.5(ASPM):c.6742G>T (p.Ala2248Ser)
NM_018136.5(ASPM):c.6769A>C (p.Arg2257=)
NM_018136.5(ASPM):c.6783_6784delinsTT (p.Met2261_Met2262delinsIleLeu)
NM_018136.5(ASPM):c.6797C>T (p.Ala2266Val)
NM_018136.5(ASPM):c.6843A>G (p.Arg2281=)
NM_018136.5(ASPM):c.6852T>A (p.Ser2284=) rs1557946154
NM_018136.5(ASPM):c.6852T>C (p.Ser2284=) rs1557946154
NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) rs587783259
NM_018136.5(ASPM):c.6891G>T (p.Arg2297=) rs776527804
NM_018136.5(ASPM):c.6915C>G (p.His2305Gln)
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.691dup (p.Cys231fs)
NM_018136.5(ASPM):c.6934C>A (p.Gln2312Lys)
NM_018136.5(ASPM):c.6958T>C (p.Ser2320Pro)
NM_018136.5(ASPM):c.6963A>G (p.Ser2321=) rs1169109101
NM_018136.5(ASPM):c.6983G>A (p.Arg2328Lys)
NM_018136.5(ASPM):c.698G>A (p.Gly233Asp)
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7028C>G (p.Ser2343Cys)
NM_018136.5(ASPM):c.7045A>C (p.Arg2349=) rs771273638
NM_018136.5(ASPM):c.7049T>A (p.Leu2350Ter) rs2125094632
NM_018136.5(ASPM):c.7054A>G (p.Met2352Val)
NM_018136.5(ASPM):c.7087G>T (p.Val2363Leu)
NM_018136.5(ASPM):c.7098G>T (p.Gln2366His) rs2125094602
NM_018136.5(ASPM):c.7105C>T (p.Gln2369Ter) rs751436140
NM_018136.5(ASPM):c.7110A>C (p.Ala2370=)
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7126C>T (p.Leu2376=)
NM_018136.5(ASPM):c.7134G>A (p.Arg2378=)
NM_018136.5(ASPM):c.7153dup (p.Arg2385fs) rs1553223323
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs) rs587783265
NM_018136.5(ASPM):c.717C>T (p.Leu239=)
NM_018136.5(ASPM):c.718dup (p.Ser240fs)
NM_018136.5(ASPM):c.71T>G (p.Leu24Arg) rs2125116158
NM_018136.5(ASPM):c.7215G>A (p.Lys2405=)
NM_018136.5(ASPM):c.7220T>C (p.Met2407Thr) rs747674396
NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn) rs376686304
NM_018136.5(ASPM):c.7252T>C (p.Phe2418Leu)
NM_018136.5(ASPM):c.7261T>G (p.Leu2421Val)
NM_018136.5(ASPM):c.7296dup (p.Ala2433fs) rs876660959
NM_018136.5(ASPM):c.7324C>G (p.Arg2442Gly)
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7328C>T (p.Ala2443Val) rs1571598933
NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly) rs560411441
NM_018136.5(ASPM):c.7397C>A (p.Ser2466Ter)
NM_018136.5(ASPM):c.7401T>G (p.Ser2467=)
NM_018136.5(ASPM):c.7408A>T (p.Arg2470Ter)
NM_018136.5(ASPM):c.7414A>T (p.Met2472Leu)
NM_018136.5(ASPM):c.7425G>A (p.Lys2475=)
NM_018136.5(ASPM):c.7437A>C (p.Glu2479Asp) rs1404144902
NM_018136.5(ASPM):c.7464G>T (p.Gln2488His)
NM_018136.5(ASPM):c.7476G>T (p.Arg2492Ser)
NM_018136.5(ASPM):c.7486A>G (p.Thr2496Ala)
NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)
NM_018136.5(ASPM):c.7513C>T (p.His2505Tyr)
NM_018136.5(ASPM):c.752A>G (p.His251Arg) rs1658668342
NM_018136.5(ASPM):c.7565_7566delinsGG (p.Leu2522Trp) rs386638268
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer) rs765530357
NM_018136.5(ASPM):c.7582A>T (p.Ile2528Phe)
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.7683A>G (p.Gln2561=)
NM_018136.5(ASPM):c.7683_7684delinsGG (p.Ser2562Gly) rs2125094105
NM_018136.5(ASPM):c.7698G>A (p.Met2566Ile)
NM_018136.5(ASPM):c.7753G>T (p.Glu2585Ter) rs2125094032
NM_018136.5(ASPM):c.7755A>G (p.Glu2585=)
NM_018136.5(ASPM):c.7767A>C (p.Ala2589=)
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.77dup (p.Ala28fs) rs199422131
NM_018136.5(ASPM):c.780T>G (p.Asn260Lys)
NM_018136.5(ASPM):c.7812A>T (p.Lys2604Asn)
NM_018136.5(ASPM):c.7830A>C (p.Ala2610=) rs111475965
NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)
NM_018136.5(ASPM):c.7847A>T (p.Asn2616Ile)
NM_018136.5(ASPM):c.7848C>T (p.Asn2616=)
NM_018136.5(ASPM):c.7877A>G (p.Gln2626Arg)
NM_018136.5(ASPM):c.7885A>G (p.Ile2629Val)
NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)
NM_018136.5(ASPM):c.78C>T (p.Gly26=)
NM_018136.5(ASPM):c.7904G>A (p.Cys2635Tyr)
NM_018136.5(ASPM):c.7926G>A (p.Lys2642=)
NM_018136.5(ASPM):c.7927C>T (p.His2643Tyr)
NM_018136.5(ASPM):c.7930T>A (p.Tyr2644Asn)
NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del) rs775391911
NM_018136.5(ASPM):c.7982T>G (p.Leu2661Arg) rs752132953
NM_018136.5(ASPM):c.7991T>C (p.Val2664Ala) rs1211408172
NM_018136.5(ASPM):c.7994G>A (p.Arg2665His)
NM_018136.5(ASPM):c.7998C>T (p.Thr2666=) rs1026432286
NM_018136.5(ASPM):c.8002G>A (p.Ala2668Thr)
NM_018136.5(ASPM):c.8034C>A (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.8034C>G (p.Gly2678=) rs587783276
NM_018136.5(ASPM):c.8043dup (p.Arg2682fs) rs876660960
NM_018136.5(ASPM):c.8049G>A (p.Lys2683=)
NM_018136.5(ASPM):c.804_805del (p.Lys268fs) rs1658666393
NM_018136.5(ASPM):c.8050G>A (p.Asp2684Asn) rs1263224475
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter) rs730882076
NM_018136.5(ASPM):c.8106C>T (p.His2702=)
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8161TAT[1] (p.Tyr2722del) rs1223631450
NM_018136.5(ASPM):c.8165A>G (p.Tyr2722Cys)
NM_018136.5(ASPM):c.818A>G (p.Glu273Gly) rs2125114508
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs) rs199422177
NM_018136.5(ASPM):c.8204T>C (p.Phe2735Ser)
NM_018136.5(ASPM):c.8249G>C (p.Arg2750Thr) rs2125093619
NM_018136.5(ASPM):c.8256G>A (p.Met2752Ile)
NM_018136.5(ASPM):c.8261_8264del (p.Val2754fs)
NM_018136.5(ASPM):c.8265A>G (p.Arg2755=)
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.8283A>G (p.Val2761=)
NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr) rs886045764
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018136.5(ASPM):c.8316A>G (p.Gln2772=) rs1305859807
NM_018136.5(ASPM):c.8359G>A (p.Val2787Ile)
NM_018136.5(ASPM):c.8377dup (p.Met2793fs)
NM_018136.5(ASPM):c.8427A>G (p.Ala2809=) rs2125093506
NM_018136.5(ASPM):c.8447G>T (p.Arg2816Met)
NM_018136.5(ASPM):c.8454A>G (p.Ala2818=)
NM_018136.5(ASPM):c.8483T>C (p.Met2828Thr) rs886043946
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280
NM_018136.5(ASPM):c.850G>A (p.Val284Ile)
NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)
NM_018136.5(ASPM):c.853_854insCATTTAATTCTGTAA (p.Val284_Asn285insThrPheAsnSerVal)
NM_018136.5(ASPM):c.8546T>A (p.Met2849Lys)
NM_018136.5(ASPM):c.8562A>G (p.Arg2854=)
NM_018136.5(ASPM):c.8589T>C (p.Ala2863=)
NM_018136.5(ASPM):c.8599del (p.Gln2867fs) rs876661154
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
NM_018136.5(ASPM):c.8625C>G (p.Thr2875=)
NM_018136.5(ASPM):c.8643A>G (p.Leu2881=)
NM_018136.5(ASPM):c.8681G>C (p.Arg2894Thr)
NM_018136.5(ASPM):c.8742_8744del (p.Ile2916del)
NM_018136.5(ASPM):c.8766_8768del (p.Phe2923del)
NM_018136.5(ASPM):c.8820+17_8820+21del
NM_018136.5(ASPM):c.8820+20A>G
NM_018136.5(ASPM):c.8821-52dup rs199941326
NM_018136.5(ASPM):c.8829G>A (p.Trp2943Ter) rs886043249
NM_018136.5(ASPM):c.8848A>G (p.Lys2950Glu) rs1558325705
NM_018136.5(ASPM):c.8850A>G (p.Lys2950=)
NM_018136.5(ASPM):c.8855T>C (p.Leu2952Ser)
NM_018136.5(ASPM):c.8857T>C (p.Cys2953Arg)
NM_018136.5(ASPM):c.8860A>G (p.Lys2954Glu)
NM_018136.5(ASPM):c.8892G>A (p.Trp2964Ter) rs201285805
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter) rs587783285
NM_018136.5(ASPM):c.8987+11A>G
NM_018136.5(ASPM):c.8987+19G>T
NM_018136.5(ASPM):c.8987+1G>A rs1553326840
NM_018136.5(ASPM):c.8987+39TG[2] rs200804798
NM_018136.5(ASPM):c.8988-15A>G
NM_018136.5(ASPM):c.8988-7T>C
NM_018136.5(ASPM):c.8998G>A (p.Val3000Met) rs1280148234
NM_018136.5(ASPM):c.9018C>G (p.Ile3006Met)
NM_018136.5(ASPM):c.9033G>C (p.Trp3011Cys)
NM_018136.5(ASPM):c.9037G>A (p.Ala3013Thr)
NM_018136.5(ASPM):c.9041T>C (p.Ile3014Thr)
NM_018136.5(ASPM):c.9042A>G (p.Ile3014Met)
NM_018136.5(ASPM):c.9047C>T (p.Pro3016Leu)
NM_018136.5(ASPM):c.9084+14A>G
NM_018136.5(ASPM):c.9085-19T>C
NM_018136.5(ASPM):c.9115C>G (p.His3039Asp)
NM_018136.5(ASPM):c.9118T>G (p.Tyr3040Asp) rs2125089562
NM_018136.5(ASPM):c.9123A>G (p.Arg3041=)
NM_018136.5(ASPM):c.9159A>G (p.Lys3053=)
NM_018136.5(ASPM):c.9160T>A (p.Ser3054Thr) rs757796113
NM_018136.5(ASPM):c.9181A>G (p.Lys3061Glu)
NM_018136.5(ASPM):c.9194C>A (p.Ala3065Asp)
NM_018136.5(ASPM):c.9202G>C (p.Ala3068Pro) rs1558324125
NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)
NM_018136.5(ASPM):c.9252T>A (p.Val3084=)
NM_018136.5(ASPM):c.9262del (p.Ala3088fs)
NM_018136.5(ASPM):c.9270G>C (p.Val3090=)
NM_018136.5(ASPM):c.9294+16T>C rs2125089419
NM_018136.5(ASPM):c.9294+18G>A
NM_018136.5(ASPM):c.9294+18G>T
NM_018136.5(ASPM):c.9295-10dup
NM_018136.5(ASPM):c.9295-5T>A
NM_018136.5(ASPM):c.929A>T (p.Gln310Leu)
NM_018136.5(ASPM):c.9324del (p.Leu3109fs) rs1163303148
NM_018136.5(ASPM):c.9333C>T (p.Phe3111=)
NM_018136.5(ASPM):c.9337del (p.Ala3113fs) rs876660961
NM_018136.5(ASPM):c.9345A>G (p.Ala3115=)
NM_018136.5(ASPM):c.9394C>T (p.Leu3132=)
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.942T>G (p.His314Gln) rs2125114403
NM_018136.5(ASPM):c.9435C>T (p.Ile3145=)
NM_018136.5(ASPM):c.9444+6CTT[2] rs1343079921
NM_018136.5(ASPM):c.9444+9C>T rs374543021
NM_018136.5(ASPM):c.9445-205CA[8] rs35277950
NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)
NM_018136.5(ASPM):c.9527A>T (p.Glu3176Val)
NM_018136.5(ASPM):c.9539_9540delinsCA (p.Gln3180Pro) rs2125088445
NM_018136.5(ASPM):c.9540G>A (p.Gln3180=) rs530083972
NM_018136.5(ASPM):c.9546T>C (p.Asn3182=)
NM_018136.5(ASPM):c.9555A>G (p.Ala3185=)
NM_018136.5(ASPM):c.9573A>G (p.Ala3191=) rs886044195
NM_018136.5(ASPM):c.9579C>T (p.Arg3193=) rs1571588969
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.9624C>A (p.Ile3208=)
NM_018136.5(ASPM):c.9636+19G>A
NM_018136.5(ASPM):c.9636+4A>G rs1131691906
NM_018136.5(ASPM):c.9637-10T>A rs1558322767
NM_018136.5(ASPM):c.9637-19T>C
NM_018136.5(ASPM):c.9646A>G (p.Arg3216Gly) rs1656740791
NM_018136.5(ASPM):c.9652T>C (p.Tyr3218His)
NM_018136.5(ASPM):c.9679A>C (p.Thr3227Pro)
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018136.5(ASPM):c.9760G>A (p.Ala3254Thr)
NM_018136.5(ASPM):c.9789T>G (p.Tyr3263Ter) rs199422198
NM_018136.5(ASPM):c.9807T>C (p.Ile3269=)
NM_018136.5(ASPM):c.9819A>C (p.Leu3273Phe) rs2125088008
NM_018136.5(ASPM):c.9824A>C (p.His3275Pro) rs2125088005
NM_018136.5(ASPM):c.9825C>A (p.His3275Gln) rs1443343127
NM_018136.5(ASPM):c.9829+10T>C
NM_018136.5(ASPM):c.9830-16T>G
NM_018136.5(ASPM):c.9830-17T>G
NM_018136.5(ASPM):c.9830-17_9830-16insG
NM_018136.5(ASPM):c.9830-20_9830-18del
NM_018136.5(ASPM):c.9830-28GT[4] rs749305180
NM_018136.5(ASPM):c.9830-28GT[7] rs749305180
NM_018136.5(ASPM):c.9830-8dup rs748383126
NM_018136.5(ASPM):c.9832G>A (p.Val3278Ile)
NM_018136.5(ASPM):c.9954T>C (p.Tyr3318=)
NM_018136.5(ASPM):c.9958G>A (p.Val3320Met)
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_018136.5(ASPM):c.9984+204_9984+206del rs199936400
NM_018136.5(ASPM):c.9985-9C>G rs1571587031
NM_018136.5(ASPM):c.9C>A (p.Asn3Lys) rs373636557
NM_018136.5(ASPM):c.9C>T (p.Asn3=)

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.