ClinVar Miner

List of variants reported as uncertain significance for childhood-onset epilepsy syndrome by Invitae

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8571
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HGVS dbSNP gnomAD frequency
NM_000811.3(GABRA6):c.255G>C (p.Gln85His) rs115069685 0.00088
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser) rs868136098 0.00070
NM_021267.5(CERS1):c.787G>A (p.Val263Ile) rs200539084 0.00065
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser) rs201806195 0.00060
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037 0.00046
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro) rs767560709 0.00039
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242 0.00038
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609 0.00032
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 0.00031
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala) rs200777615 0.00030
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) rs200214191 0.00030
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys) rs201069648 0.00029
NM_001242896.3(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747 0.00029
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854 0.00029
NM_178013.4(PRIMA1):c.16T>G (p.Leu6Val) rs186707302 0.00029
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys) rs200041907 0.00026
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile) rs150681002 0.00026
NM_001242896.3(DEPDC5):c.2035G>A (p.Gly679Ser) rs748634683 0.00026
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) rs146063801 0.00026
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser) rs1201438079 0.00026
NM_178013.4(PRIMA1):c.228A>T (p.Pro76=) rs368397994 0.00026
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln) rs562277889 0.00024
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=) rs201690337 0.00024
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987 0.00023
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_018100.4(EFHC1):c.550G>T (p.Val184Phe) rs558446131 0.00021
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr) rs539307365 0.00021
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met) rs556147064 0.00019
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786 0.00019
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473 0.00019
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln) rs754644849 0.00019
NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg) rs147757229 0.00017
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_001271.4(CHD2):c.551+5A>C rs376498798 0.00016
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135 0.00016
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468 0.00016
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223 0.00016
NM_021267.5(CERS1):c.257C>T (p.Ala86Val) rs374895377 0.00016
NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu) rs368949581 0.00016
NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg) rs760709933 0.00016
NM_032737.4(LMNB2):c.715C>T (p.Arg239Trp) rs375872872 0.00016
NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys) rs199604642 0.00016
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171 0.00015
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105 0.00015
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys) rs560167568 0.00014
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn) rs186859701 0.00014
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met) rs564667614 0.00014
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543 0.00014
NM_032737.4(LMNB2):c.692G>A (p.Arg231Gln) rs754946662 0.00014
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494 0.00014
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp) rs200200279 0.00013
NM_001099403.2(PRDM8):c.973G>A (p.Gly325Ser) rs773668859 0.00013
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly) rs774989939 0.00013
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu) rs149473868 0.00013
NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu) rs116394157 0.00013
NM_021267.5(CERS1):c.289G>A (p.Ala97Thr) rs374076863 0.00013
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser) rs373056917 0.00013
NM_021267.5(CERS1):c.708T>A (p.His236Gln) rs902153714 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys) rs202129021 0.00012
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536 0.00012
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902 0.00012
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn) rs760846460 0.00012
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr) rs149715692 0.00012
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488 0.00012
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe) rs144791636 0.00012
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376 0.00012
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322 0.00012
NM_021267.5(CERS1):c.911C>T (p.Ala304Val) rs373927986 0.00012
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131 0.00012
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile) rs776554504 0.00011
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His) rs750341856 0.00011
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys) rs531563186 0.00011
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val) rs372528371 0.00011
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001242896.3(DEPDC5):c.3805+14C>T rs376135083 0.00011
NM_001271.4(CHD2):c.1297A>G (p.Ile433Val) rs368327967 0.00011
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227 0.00011
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280 0.00011
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721 0.00011
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val) rs147142116 0.00011
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932 0.00011
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val) rs199856913 0.00011
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191 0.00011
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005 0.00011
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) rs141292909 0.00011
NM_014467.3(SRPX2):c.893G>A (p.Arg298His) rs369663551 0.00011
NM_015973.5(GAL):c.199C>T (p.Arg67Trp) rs200075890 0.00011
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=) rs745575483 0.00011
NM_021267.5(CERS1):c.95C>T (p.Ala32Val) rs1387898936 0.00011
NM_032737.4(LMNB2):c.329C>T (p.Thr110Met) rs371789042 0.00011
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr) rs777597253 0.00011
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr) rs559906825 0.00010
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156 0.00010
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) rs141735618 0.00010
NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe) rs150357603 0.00010
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706 0.00010
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val) rs756606813 0.00010
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala) rs188036542 0.00010
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) rs763719276 0.00010
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly) rs767010700 0.00010
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser) rs141975071 0.00010
NM_015973.5(GAL):c.166G>A (p.Asp56Asn) rs149894151 0.00010
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) rs112800954 0.00010
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054 0.00010
NM_021267.5(CERS1):c.575C>T (p.Ser192Phe) rs1009080328 0.00010
NM_032737.4(LMNB2):c.71C>A (p.Pro24Gln) rs1188775924 0.00010
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys) rs200321023 0.00010
NM_178013.4(PRIMA1):c.295G>A (p.Val99Ile) rs200260569 0.00010
NM_000748.3(CHRNB2):c.1084C>T (p.Arg362Cys) rs199928622 0.00009
NM_001077350.3(NPRL3):c.1297C>T (p.Arg433Trp) rs372094629 0.00009
NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val) rs1032197214 0.00009
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879 0.00009
NM_001099403.2(PRDM8):c.1408G>A (p.Gly470Ser) rs932918812 0.00009
NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr) rs376363769 0.00009
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941 0.00009
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078 0.00009
NM_001242896.3(DEPDC5):c.3013A>G (p.Met1005Val) rs367860294 0.00009
NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly) rs201347461 0.00009
NM_004287.5(GOSR2):c.203+3A>G rs201423456 0.00009
NM_005045.4(RELN):c.4843G>C (p.Asp1615His) rs375040526 0.00009
NM_005045.4(RELN):c.576A>G (p.Leu192=) rs142874980 0.00009
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199 0.00009
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) rs370033099 0.00009
NM_015973.5(GAL):c.137-2A>G rs762777313 0.00009
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro) rs749376467 0.00009
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile) rs781665913 0.00009
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr) rs45524532 0.00009
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser) rs371675673 0.00008
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg) rs762888947 0.00008
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083 0.00008
NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854 0.00008
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys) rs750467533 0.00008
NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser) rs139892362 0.00008
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129 0.00008
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu) rs748273406 0.00008
NM_018100.4(EFHC1):c.266A>G (p.His89Arg) rs543160745 0.00008
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=) rs758308334 0.00008
NM_021267.5(CERS1):c.164T>A (p.Leu55Gln) rs918114133 0.00008
NM_021267.5(CERS1):c.857C>T (p.Ala286Val) rs559340743 0.00008
NM_032737.4(LMNB2):c.542G>A (p.Arg181Gln) rs781346530 0.00008
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln) rs367729589 0.00007
NM_001242896.3(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843 0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001242896.3(DEPDC5):c.3545A>G (p.Glu1182Gly) rs373459336 0.00007
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_005045.4(RELN):c.7861G>A (p.Gly2621Arg) rs144453936 0.00007
NM_005097.4(LGI1):c.1669G>A (p.Ala557Thr) rs370955995 0.00007
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) rs141168255 0.00007
NM_015973.5(GAL):c.140C>T (p.Ala47Val) rs374472664 0.00007
NM_015973.5(GAL):c.368C>T (p.Ser123Phe) rs747411981 0.00007
NM_015973.5(GAL):c.43G>A (p.Ala15Thr) rs753843211 0.00007
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) rs371610025 0.00007
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys) rs370800291 0.00007
NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994 0.00007
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro) rs569851503 0.00006
NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys) rs754133410 0.00006
NM_000744.7(CHRNA4):c.1583C>T (p.Pro528Leu) rs201739273 0.00006
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala) rs1025632281 0.00006
NM_000744.7(CHRNA4):c.553G>A (p.Asp185Asn) rs200979226 0.00006
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) rs202114705 0.00006
NM_001077350.3(NPRL3):c.1298G>A (p.Arg433Gln) rs781225056 0.00006
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr) rs752246132 0.00006
NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg) rs374687256 0.00006
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys) rs189283988 0.00006
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys) rs374060440 0.00006
NM_001077350.3(NPRL3):c.630-19C>G rs753781901 0.00006
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln) rs201341279 0.00006
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln) rs983217484 0.00006
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn) rs553212056 0.00006
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly) rs1443007613 0.00006
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124 0.00006
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser) rs371312649 0.00006
NM_001242896.3(DEPDC5):c.2287C>T (p.Arg763Cys) rs745342391 0.00006
NM_001242896.3(DEPDC5):c.2836T>C (p.Phe946Leu) rs377335254 0.00006
NM_001242896.3(DEPDC5):c.2921G>A (p.Arg974His) rs762596342 0.00006
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala) rs537257402 0.00006
NM_001242896.3(DEPDC5):c.3622G>A (p.Ala1208Thr) rs748662185 0.00006
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773 0.00006
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_001242896.3(DEPDC5):c.90C>G (p.Phe30Leu) rs374794334 0.00006
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr) rs780701076 0.00006
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala) rs1442904433 0.00006
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu) rs1381374225 0.00006
NM_004287.5(GOSR2):c.149G>A (p.Arg50His) rs377765254 0.00006
NM_004287.5(GOSR2):c.393G>T (p.Gln131His) rs182039780 0.00006
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys) rs149434986 0.00006
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe) rs200373269 0.00006
NM_005045.4(RELN):c.3593G>A (p.Arg1198His) rs114655373 0.00006
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe) rs755485060 0.00006
NM_005045.4(RELN):c.5345G>A (p.Arg1782His) rs747527621 0.00006
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser) rs374941914 0.00006
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys) rs374628146 0.00006
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg) rs138909076 0.00006
NM_005045.4(RELN):c.7036G>A (p.Val2346Met) rs201788015 0.00006
NM_005045.4(RELN):c.718G>A (p.Val240Ile) rs375141725 0.00006
NM_005045.4(RELN):c.8141A>G (p.His2714Arg) rs746594396 0.00006
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu) rs773908055 0.00006
NM_005097.4(LGI1):c.205G>A (p.Val69Ile) rs147469708 0.00006
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409 0.00006
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser) rs753867771 0.00006
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His) rs1393744393 0.00006
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys) rs781291421 0.00006
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val) rs773810917 0.00006
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138 0.00006
NM_018100.4(EFHC1):c.1A>G (p.Met1Val) rs201520866 0.00006
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr) rs201616140 0.00006
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp) rs373625101 0.00006
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val) rs780571007 0.00006
NM_020822.3(KCNT1):c.2630C>T (p.Ala877Val) rs774033346 0.00006
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326 0.00006
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) rs758311066 0.00006
NM_021267.5(CERS1):c.1018C>G (p.Leu340Val) rs774114834 0.00006
NM_021267.5(CERS1):c.419C>T (p.Pro140Leu) rs202201774 0.00006
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp) rs767801199 0.00006
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu) rs781019264 0.00006
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr) rs778075325 0.00006
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr) rs141795695 0.00006
NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg) rs750904030 0.00006
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749 0.00006
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00006
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys) rs752070986 0.00006
NM_153033.5(KCTD7):c.266C>T (p.Thr89Met) rs375586745 0.00006
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val) rs367906378 0.00006
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met) rs140164729 0.00006
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys) rs746626989 0.00006
NM_000100.4(CSTB):c.26C>T (p.Thr9Met) rs778785343 0.00005
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305 0.00005
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) rs77710036 0.00005
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu) rs763923760 0.00005
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys) rs775053528 0.00005
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080 0.00005
NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe) rs752181668 0.00005
NM_001099403.2(PRDM8):c.1138G>A (p.Glu380Lys) rs769213647 0.00005
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825 0.00005
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp) rs372824214 0.00005
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr) rs753837771 0.00005
NM_001112741.2(KCNC1):c.1385G>A (p.Arg462Gln) rs200123434 0.00005
NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg) rs749270474 0.00005
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val) rs372678518 0.00005
NM_001134407.3(GRIN2A):c.829A>G (p.Ile277Val) rs376979811 0.00005
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408 0.00005
NM_001242896.3(DEPDC5):c.1082-3T>A rs780547994 0.00005
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310 0.00005
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg) rs754608531 0.00005
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr) rs764462476 0.00005
NM_001242896.3(DEPDC5):c.532A>G (p.Ser178Gly) rs758035240 0.00005
NM_001271.4(CHD2):c.5351T>C (p.Val1784Ala) rs776419537 0.00005
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) rs144472114 0.00005
NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln) rs200731411 0.00005
NM_005045.4(RELN):c.2464A>G (p.Arg822Gly) rs945117892 0.00005
NM_005045.4(RELN):c.6190C>T (p.His2064Tyr) rs767258528 0.00005
NM_005045.4(RELN):c.698C>T (p.Ala233Val) rs371936391 0.00005
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748 0.00005
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val) rs185075003 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr) rs1064794450 0.00005
NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu) rs773892997 0.00005
NM_015973.5(GAL):c.200G>C (p.Arg67Pro) rs768058377 0.00005
NM_015973.5(GAL):c.216G>A (p.Met72Ile) rs375393105 0.00005
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly) rs529767823 0.00005
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr) rs199604518 0.00005
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn) rs137852777 0.00005
NM_020822.3(KCNT1):c.110+1G>C rs780331569 0.00005
NM_020822.3(KCNT1):c.1510+4C>T rs554828530 0.00005
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518 0.00005
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp) rs150447764 0.00005
NM_032737.4(LMNB2):c.1234G>A (p.Val412Ile) rs577848864 0.00005
NM_153026.3(PRICKLE1):c.1243A>G (p.Met415Val) rs776720321 0.00005
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062 0.00005
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu) rs146199468 0.00005
NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala) rs764577468 0.00005
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443 0.00005
NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala) rs528557291 0.00005
NM_178013.4(PRIMA1):c.433G>A (p.Gly145Arg) rs779293897 0.00005
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val) rs772155104 0.00005
NM_198904.4(GABRG2):c.549-3T>G rs750459631 0.00005
NM_000100.4(CSTB):c.175G>A (p.Val59Ile) rs531685360 0.00004
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu) rs753004113 0.00004
NM_000100.4(CSTB):c.224A>G (p.His75Arg) rs755073483 0.00004
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His) rs368791756 0.00004
NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr) rs771693410 0.00004
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu) rs367914235 0.00004
NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser) rs111286066 0.00004
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu) rs121912281 0.00004
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239 0.00004
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter) rs112748821 0.00004
NM_000744.7(CHRNA4):c.585C>G (p.His195Gln) rs121912248 0.00004
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) rs201841018 0.00004
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser) rs1421654764 0.00004
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) rs778714852 0.00004
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp) rs945492622 0.00004
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys) rs1469333218 0.00004
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His) rs79646221 0.00004
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met) rs145893879 0.00004
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys) rs530150587 0.00004
NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr) rs374486402 0.00004
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val) rs778177582 0.00004
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp) rs769173039 0.00004
NM_001077350.3(NPRL3):c.943C>T (p.His315Tyr) rs772044858 0.00004
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala) rs190431626 0.00004
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser) rs1014065137 0.00004
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val) rs760114885 0.00004
NM_001099403.2(PRDM8):c.1618G>T (p.Ala540Ser) rs780056353 0.00004
NM_001099403.2(PRDM8):c.1666A>C (p.Asn556His) rs768703640 0.00004
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro) rs750098513 0.00004
NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe) rs747752546 0.00004
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser) rs761182081 0.00004
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu) rs766078819 0.00004
NM_001099403.2(PRDM8):c.697C>G (p.Leu233Val) rs771970888 0.00004
NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn) rs927483438 0.00004
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys) rs756112704 0.00004
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe) rs769602150 0.00004
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe) rs766759815 0.00004
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu) rs776719617 0.00004
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala) rs767957728 0.00004
NM_001161352.2(KCNMA1):c.2966G>A (p.Arg989His) rs369646039 0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 0.00004
NM_001242896.3(DEPDC5):c.1154G>A (p.Arg385Gln) rs368032858 0.00004
NM_001242896.3(DEPDC5):c.1226C>G (p.Thr409Arg) rs773704927 0.00004
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr) rs768264302 0.00004
NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala) rs199603004 0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr) rs373078069 0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val) rs370318709 0.00004
NM_001242896.3(DEPDC5):c.2480C>T (p.Pro827Leu) rs374719445 0.00004
NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu) rs370487077 0.00004
NM_001242896.3(DEPDC5):c.2996G>A (p.Arg999Gln) rs201245740 0.00004
NM_001242896.3(DEPDC5):c.3206A>C (p.Gln1069Pro) rs761678944 0.00004
NM_001242896.3(DEPDC5):c.3302G>A (p.Arg1101His) rs971993042 0.00004
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val) rs529069517 0.00004
NM_001242896.3(DEPDC5):c.3547G>A (p.Ala1183Thr) rs376438394 0.00004
NM_001242896.3(DEPDC5):c.3563C>T (p.Ser1188Leu) rs376487148 0.00004
NM_001242896.3(DEPDC5):c.3659G>A (p.Gly1220Glu) rs374871448 0.00004
NM_001242896.3(DEPDC5):c.3678G>A (p.Met1226Ile) rs756692170 0.00004
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met) rs369298689 0.00004
NM_001242896.3(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336 0.00004
NM_001242896.3(DEPDC5):c.3946C>G (p.Leu1316Val) rs755051459 0.00004
NM_001242896.3(DEPDC5):c.4175C>T (p.Ala1392Val) rs1420107846 0.00004
NM_001242896.3(DEPDC5):c.562+4C>T rs553625749 0.00004
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys) rs542243995 0.00004
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg) rs373051961 0.00004
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly) rs774715709 0.00004
NM_001271.4(CHD2):c.5032C>T (p.Arg1678Trp) rs767024945 0.00004
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln) rs373039868 0.00004
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975 0.00004
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His) rs140365508 0.00004
NM_004287.5(GOSR2):c.272G>A (p.Arg91His) rs145168042 0.00004
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg) rs1229223114 0.00004
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg) rs373000501 0.00004
NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser) rs148140675 0.00004
NM_005045.4(RELN):c.1554+5A>G rs778678895 0.00004
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252 0.00004
NM_005045.4(RELN):c.2084T>A (p.Phe695Tyr) rs750188972 0.00004
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr) rs543233426 0.00004
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys) rs771201055 0.00004
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser) rs779002595 0.00004
NM_005045.4(RELN):c.4133C>G (p.Ser1378Cys) rs751271323 0.00004
NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly) rs1023433954 0.00004
NM_005045.4(RELN):c.65G>T (p.Arg22Met) rs139532757 0.00004
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902 0.00004
NM_005045.4(RELN):c.7939G>A (p.Gly2647Ser) rs781392761 0.00004
NM_005045.4(RELN):c.8068G>A (p.Gly2690Ser) rs201264902 0.00004
NM_005045.4(RELN):c.9605+6T>A rs376881823 0.00004
NM_005097.4(LGI1):c.1124C>T (p.Ala375Val) rs778913748 0.00004
NM_005097.4(LGI1):c.344C>T (p.Pro115Leu) rs763321607 0.00004
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503 0.00004
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met) rs148588727 0.00004
NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala) rs796052438 0.00004
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu) rs148475381 0.00004
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg) rs763098296 0.00004
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563 0.00004
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr) rs780826386 0.00004
NM_014467.3(SRPX2):c.1144G>A (p.Val382Met) rs148241932 0.00004
NM_015973.5(GAL):c.223+3G>A rs202155593 0.00004
NM_015973.5(GAL):c.77C>T (p.Ser26Leu) rs201644659 0.00004
NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys) rs144389178 0.00004
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384 0.00004
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr) rs770847993 0.00004
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser) rs775601315 0.00004
NM_018100.4(EFHC1):c.263C>T (p.Ala88Val) rs145102896 0.00004
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val) rs369777400 0.00004
NM_018100.4(EFHC1):c.573+5A>G rs560584332 0.00004
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter) rs377165334 0.00004
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) rs77682973 0.00004
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe) rs950983477 0.00004
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu) rs775923151 0.00004
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) rs748115007 0.00004
NM_020822.3(KCNT1):c.3505G>A (p.Glu1169Lys) rs768746178 0.00004
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met) rs370090905 0.00004
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121 0.00004
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu) rs753714293 0.00004
NM_021267.5(CERS1):c.262C>T (p.Arg88Trp) rs202181919 0.00004
NM_021267.5(CERS1):c.293A>G (p.Lys98Arg) rs770877225 0.00004
NM_021267.5(CERS1):c.349G>T (p.Ala117Ser) rs199956210 0.00004
NM_021267.5(CERS1):c.437G>A (p.Arg146Gln) rs201005099 0.00004
NM_021267.5(CERS1):c.505A>G (p.Met169Val) rs1230248222 0.00004
NM_021267.5(CERS1):c.682C>T (p.Arg228Cys) rs746909154 0.00004
NM_021267.5(CERS1):c.797C>T (p.Ala266Val) rs1245703626 0.00004
NM_021267.5(CERS1):c.817C>T (p.Arg273Cys) rs772007237 0.00004
NM_021267.5(CERS1):c.821C>T (p.Thr274Met) rs769809173 0.00004
NM_021267.5(CERS1):c.989G>T (p.Ser330Ile) rs376643753 0.00004
NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg) rs567492725 0.00004
NM_032737.4(LMNB2):c.1156A>G (p.Met386Val) rs746460447 0.00004
NM_032737.4(LMNB2):c.1342G>T (p.Gly448Cys) rs376707935 0.00004
NM_032737.4(LMNB2):c.1687G>A (p.Val563Ile) rs201618968 0.00004
NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val) rs774978600 0.00004
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys) rs777988017 0.00004
NM_032737.4(LMNB2):c.341G>A (p.Arg114His) rs201499035 0.00004
NM_032737.4(LMNB2):c.85G>C (p.Ala29Pro) rs775899258 0.00004
NM_032737.4(LMNB2):c.967G>A (p.Gly323Ser) rs771401646 0.00004
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190 0.00004
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996 0.00004
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile) rs374333566 0.00004
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu) rs370892022 0.00004
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly) rs370129051 0.00004
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys) rs768954477 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504 0.00004
NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys) rs772773351 0.00004
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln) rs745917176 0.00004
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp) rs568539835 0.00004
NM_178013.4(PRIMA1):c.163C>T (p.Arg55Trp) rs146599561 0.00004
NM_178013.4(PRIMA1):c.442G>A (p.Val148Met) rs140016687 0.00004
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu) rs144863228 0.00004
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232 0.00004
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu) rs376655413 0.00004
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) rs374512652 0.00004
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg) rs935774172 0.00003
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp) rs188098799 0.00003
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter) rs530383631 0.00003
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val) rs753892989 0.00003
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933 0.00003
NM_000742.4(CHRNA2):c.1465-2A>G rs1279319311 0.00003
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu) rs761493925 0.00003
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu) rs199810678 0.00003
NM_000742.4(CHRNA2):c.482C>T (p.Thr161Ile) rs376045534 0.00003
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu) rs780491416 0.00003
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys) rs139727115 0.00003
NM_000744.7(CHRNA4):c.109G>A (p.Glu37Lys) rs778087682 0.00003
NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp) rs796052319 0.00003
NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly) rs1381116077 0.00003
NM_000744.7(CHRNA4):c.193C>T (p.Arg65Cys) rs748440038 0.00003
NM_000744.7(CHRNA4):c.817G>A (p.Glu273Lys) rs758885593 0.00003
NM_000748.3(CHRNB2):c.1061A>C (p.His354Pro) rs201793956 0.00003
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu) rs1303546196 0.00003
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) rs746480833 0.00003
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp) rs372273025 0.00003
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr) rs769929506 0.00003
NM_001077350.3(NPRL3):c.1145C>T (p.Ala382Val) rs375562061 0.00003
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln) rs868451771 0.00003
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu) rs762676113 0.00003
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys) rs753763592 0.00003
NM_001077350.3(NPRL3):c.1562G>A (p.Arg521His) rs758488510 0.00003
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His) rs367598130 0.00003
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?) rs756232589 0.00003
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn) rs748391280 0.00003
NM_001077350.3(NPRL3):c.563A>G (p.Gln188Arg) rs191687929 0.00003
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu) rs556232826 0.00003
NM_001077350.3(NPRL3):c.767+6T>C rs745822946 0.00003
NM_001099403.2(PRDM8):c.1374C>A (p.Ser458Arg) rs1271340866 0.00003
NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp) rs1388275056 0.00003
NM_001099403.2(PRDM8):c.1673G>T (p.Gly558Val) rs1454069268 0.00003
NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg) rs760525459 0.00003
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg) rs746174564 0.00003
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val) rs749676209 0.00003
NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg) rs1223656077 0.00003
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile) rs1030327610 0.00003
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly) rs749501319 0.00003
NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218 0.00003
NM_001112741.2(KCNC1):c.1574C>T (p.Ala525Val) rs1169785679 0.00003
NM_001112741.2(KCNC1):c.1610C>T (p.Ser537Leu) rs374684541 0.00003
NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His) rs375362627 0.00003
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile) rs1370761997 0.00003
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met) rs772999261 0.00003
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu) rs545345009 0.00003
NM_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu) rs757262372 0.00003
NM_001134407.3(GRIN2A):c.295G>A (p.Val99Met) rs773569899 0.00003
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) rs1447211434 0.00003
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) rs200668674 0.00003
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu) rs587780363 0.00003
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr) rs75573826 0.00003
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met) rs201192736 0.00003
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661 0.00003
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270 0.00003
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp) rs148648986 0.00003
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser) rs767576877 0.00003
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234 0.00003
NM_001242896.3(DEPDC5):c.1067G>A (p.Arg356Gln) rs764876578 0.00003
NM_001242896.3(DEPDC5):c.114T>G (p.Ile38Met) rs566463688 0.00003
NM_001242896.3(DEPDC5):c.1166G>A (p.Arg389His) rs768332862 0.00003
NM_001242896.3(DEPDC5):c.1334G>A (p.Ser445Asn) rs201797550 0.00003
NM_001242896.3(DEPDC5):c.1456G>A (p.Glu486Lys) rs1389850959 0.00003
NM_001242896.3(DEPDC5):c.1760G>A (p.Arg587Gln) rs754007438 0.00003
NM_001242896.3(DEPDC5):c.1945A>G (p.Arg649Gly) rs775910110 0.00003
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln) rs752274547 0.00003
NM_001242896.3(DEPDC5):c.2288G>A (p.Arg763His) rs542384516 0.00003
NM_001242896.3(DEPDC5):c.2465C>G (p.Pro822Arg) rs746372266 0.00003
NM_001242896.3(DEPDC5):c.2553G>C (p.Gln851His) rs368375649 0.00003
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile) rs374944205 0.00003
NM_001242896.3(DEPDC5):c.2875A>G (p.Ile959Val) rs757332983 0.00003
NM_001242896.3(DEPDC5):c.2884G>T (p.Gly962Trp) rs756338392 0.00003
NM_001242896.3(DEPDC5):c.2920C>T (p.Arg974Cys) rs768342837 0.00003
NM_001242896.3(DEPDC5):c.3014T>A (p.Met1005Lys) rs778753730 0.00003
NM_001242896.3(DEPDC5):c.3194A>G (p.Lys1065Arg) rs757609394 0.00003
NM_001242896.3(DEPDC5):c.3316G>A (p.Ala1106Thr) rs1247651367 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001242896.3(DEPDC5):c.3746G>A (p.Arg1249Gln) rs747454808 0.00003
NM_001242896.3(DEPDC5):c.3871C>T (p.Arg1291Cys) rs202227830 0.00003
NM_001242896.3(DEPDC5):c.4033+5A>G rs886039270 0.00003
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln) rs200552561 0.00003
NM_001242896.3(DEPDC5):c.4756C>T (p.Arg1586Trp) rs768925194 0.00003
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met) rs575683658 0.00003
NM_001242896.3(DEPDC5):c.944A>G (p.Asn315Ser) rs555944888 0.00003
NM_001271.4(CHD2):c.294+5C>T rs777934535 0.00003
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro) rs760099829 0.00003
NM_001271.4(CHD2):c.4063C>A (p.Leu1355Met) rs748470273 0.00003
NM_001271.4(CHD2):c.4693-3T>C rs967867731 0.00003
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser) rs753595749 0.00003
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met) rs200670508 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys) rs747328256 0.00003
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln) rs760503363 0.00003
NM_004287.5(GOSR2):c.29+13C>T rs747791818 0.00003
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro) rs751635119 0.00003
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys) rs34572603 0.00003
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) rs1305687118 0.00003
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) rs369247929 0.00003
NM_004287.5(GOSR2):c.619G>A (p.Val207Met) rs780839289 0.00003
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met) rs528931142 0.00003
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) rs1131691533 0.00003
NM_004408.4(DNM1):c.812G>A (p.Arg271His) rs201656136 0.00003
NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln) rs766401565 0.00003
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile) rs200007424 0.00003
NM_005045.4(RELN):c.3217T>G (p.Phe1073Val) rs1402561512 0.00003
NM_005045.4(RELN):c.334T>C (p.Phe112Leu) rs201754586 0.00003
NM_005045.4(RELN):c.40G>A (p.Ala14Thr) rs147551940 0.00003
NM_005045.4(RELN):c.415A>G (p.Thr139Ala) rs1239164551 0.00003
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln) rs774277969 0.00003
NM_005045.4(RELN):c.4946G>A (p.Arg1649His) rs748067380 0.00003
NM_005045.4(RELN):c.544+6C>T rs537314807 0.00003
NM_005045.4(RELN):c.6241G>A (p.Ala2081Thr) rs761368012 0.00003
NM_005045.4(RELN):c.6470C>T (p.Pro2157Leu) rs1412766990 0.00003
NM_005045.4(RELN):c.7121A>G (p.Glu2374Gly) rs1227348163 0.00003
NM_005045.4(RELN):c.7253A>G (p.Asn2418Ser) rs145844782 0.00003
NM_005045.4(RELN):c.8552A>T (p.Tyr2851Phe) rs1319092399 0.00003
NM_005045.4(RELN):c.9091A>T (p.Ile3031Phe) rs773318461 0.00003
NM_005045.4(RELN):c.9463G>A (p.Val3155Ile) rs769668891 0.00003
NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala) rs142094612 0.00003
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp) rs756854888 0.00003
NM_005097.4(LGI1):c.1318G>A (p.Val440Met) rs144400448 0.00003
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu) rs769204967 0.00003
NM_005097.4(LGI1):c.1459T>C (p.Tyr487His) rs748991956 0.00003
NM_005097.4(LGI1):c.34G>T (p.Ala12Ser) rs770065197 0.00003
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val) rs542349309 0.00003
NM_005506.4(SCARB2):c.117G>A (p.Lys39=) rs1006710581 0.00003
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val) rs778593496 0.00003
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481 0.00003
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys) rs751711805 0.00003
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg) rs963202088 0.00003
NM_005670.4(EPM2A):c.190G>A (p.Val64Met) rs749279494 0.00003
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr) rs992596583 0.00003
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) rs747386643 0.00003
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp) rs376750373 0.00003
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg) rs796052423 0.00003
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr) rs748048885 0.00003
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val) rs138798058 0.00003
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800 0.00003
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys) rs754779408 0.00003
NM_014467.3(SRPX2):c.1288C>T (p.Arg430Cys) rs757158053 0.00003
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser) rs121918364 0.00003
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) rs1237471672 0.00003
NM_014467.3(SRPX2):c.959C>T (p.Ala320Val) rs780126596 0.00003
NM_014467.3(SRPX2):c.99G>A (p.Pro33=) rs766670891 0.00003
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu) rs779882152 0.00003
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile) rs766874585 0.00003
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro) rs773598517 0.00003
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly) rs779990464 0.00003
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly) rs759767484 0.00003
NM_018100.4(EFHC1):c.286-1G>A rs1351442830 0.00003
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys) rs764096785 0.00003
NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp) rs1164027334 0.00003
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys) rs201543041 0.00003
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg) rs138973203 0.00003
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met) rs779590747 0.00003
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438 0.00003
NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln) rs761289867 0.00003
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711 0.00003
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn) rs1367605908 0.00003
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065 0.00003
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys) rs749302270 0.00003
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile) rs1313669242 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 0.00003
NM_020822.3(KCNT1):c.675G>A (p.Thr225=) rs773255063 0.00003
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951 0.00003
NM_021267.5(CERS1):c.591-3C>T rs755223903 0.00003
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg) rs778227106 0.00003
NM_032737.4(LMNB2):c.1006C>T (p.Arg336Trp) rs775486191 0.00003
NM_032737.4(LMNB2):c.1420G>A (p.Val474Ile) rs771415464 0.00003
NM_032737.4(LMNB2):c.1631C>T (p.Ser544Leu) rs776253195 0.00003
NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met) rs746479856 0.00003
NM_032737.4(LMNB2):c.421G>A (p.Glu141Lys) rs370270636 0.00003
NM_032737.4(LMNB2):c.745C>A (p.Gln249Lys) rs752056497 0.00003
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn) rs1013986586 0.00003
NM_032737.4(LMNB2):c.911G>A (p.Arg304His) rs567796688 0.00003
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455 0.00003
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser) rs748766846 0.00003
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261 0.00003
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708 0.00003
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129 0.00003
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908 0.00003
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) rs370967125 0.00003
NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu) rs142613488 0.00003
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984 0.00003
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839 0.00003
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys) rs372213429 0.00003
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met) rs375459191 0.00003
NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln) rs752116352 0.00003
NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr) rs766856368 0.00003
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu) rs559020294 0.00003
NM_153033.5(KCTD7):c.226A>G (p.Met76Val) rs200569899 0.00003
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val) rs751720071 0.00003
NM_178013.4(PRIMA1):c.146G>A (p.Arg49Gln) rs745490663 0.00003
NM_178013.4(PRIMA1):c.176C>T (p.Pro59Leu) rs550883370 0.00003
NM_178013.4(PRIMA1):c.98C>T (p.Thr33Met) rs760874562 0.00003
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val) rs765443391 0.00003
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val) rs1275828844 0.00003
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln) rs759908693 0.00003
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr) rs570505924 0.00003
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys) rs762082236 0.00002
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser) rs766285245 0.00002
NM_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile) rs758255768 0.00002
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn) rs767656036 0.00002
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730 0.00002
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926 0.00002
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala) rs747909980 0.00002
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val) rs528528743 0.00002
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile) rs796052306 0.00002
NM_000742.4(CHRNA2):c.294+5G>A rs774398407 0.00002
NM_000742.4(CHRNA2):c.394T>A (p.Ser132Thr) rs775662796 0.00002
NM_000742.4(CHRNA2):c.417G>T (p.Met139Ile) rs748755253 0.00002
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu) rs796052297 0.00002
NM_000742.4(CHRNA2):c.688G>A (p.Glu230Lys) rs747493891 0.00002
NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser) rs1039488837 0.00002
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met) rs121912264 0.00002
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu) rs267606048 0.00002
NM_000744.7(CHRNA4):c.118C>T (p.Leu40Phe) rs1568819698 0.00002
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr) rs1317529556 0.00002
NM_000744.7(CHRNA4):c.1537C>T (p.Arg513Cys) rs201864944 0.00002
NM_000744.7(CHRNA4):c.181G>A (p.Val61Met) rs150451372 0.00002
NM_000744.7(CHRNA4):c.228+10G>T rs759148756 0.00002
NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys) rs375654386 0.00002
NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu) rs377114983 0.00002
NM_000744.7(CHRNA4):c.751A>G (p.Ile251Val) rs776882201 0.00002
NM_000744.7(CHRNA4):c.754A>G (p.Ile252Val) rs201865234 0.00002
NM_000744.7(CHRNA4):c.808G>A (p.Glu270Lys) rs765977956 0.00002
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val) rs141511378 0.00002
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser) rs753731408 0.00002
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile) rs200910048 0.00002
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) rs199885651 0.00002
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030 0.00002
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576 0.00002
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys) rs761443880 0.00002
NM_001077350.3(NPRL3):c.1199G>A (p.Arg400His) rs535478389 0.00002
NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His) rs765841003 0.00002
NM_001077350.3(NPRL3):c.127C>T (p.Arg43Cys) rs770318147 0.00002
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile) rs771113936 0.00002
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser) rs548390527 0.00002
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr) rs368198378 0.00002
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met) rs1055200832 0.00002
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His) rs750844568 0.00002
NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys) rs747602641 0.00002
NM_001077350.3(NPRL3):c.318+3A>T rs746765533 0.00002
NM_001077350.3(NPRL3):c.428A>G (p.His143Arg) rs959374963 0.00002
NM_001077350.3(NPRL3):c.470A>G (p.Glu157Gly) rs762922931 0.00002
NM_001077350.3(NPRL3):c.5G>C (p.Arg2Pro) rs752487586 0.00002
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro) rs747035776 0.00002
NM_001077350.3(NPRL3):c.769C>G (p.Pro257Ala) rs746568841 0.00002
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val) rs777790535 0.00002
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser) rs375417903 0.00002
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser) rs1369436425 0.00002
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr) rs910463955 0.00002
NM_001099403.2(PRDM8):c.1300G>A (p.Glu434Lys) rs1267354661 0.00002
NM_001099403.2(PRDM8):c.269G>A (p.Arg90Gln) rs748762942 0.00002
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp) rs756625230 0.00002
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys) rs1162839638 0.00002
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe) rs775975261 0.00002
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile) rs768596814 0.00002
NM_001112741.2(KCNC1):c.1537G>A (p.Ala513Thr) rs769979889 0.00002
NM_001112741.2(KCNC1):c.1681G>A (p.Gly561Arg) rs1417612823 0.00002
NM_001112741.2(KCNC1):c.433G>C (p.Gly145Arg) rs759773311 0.00002
NM_001112741.2(KCNC1):c.688G>C (p.Gly230Arg) rs1323463103 0.00002
NM_001112741.2(KCNC1):c.696A>C (p.Gln232His) rs775885483 0.00002
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His) rs780903060 0.00002
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu) rs149238028 0.00002
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg) rs757918199 0.00002
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255 0.00002
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln) rs967193064 0.00002
NM_001122752.2(SERPINI1):c.881+4T>G rs766034834 0.00002
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala) rs779353952 0.00002
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr) rs201695047 0.00002
NM_001134407.3(GRIN2A):c.2543G>A (p.Cys848Tyr) rs779911797 0.00002
NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu) rs1436853714 0.00002
NM_001134407.3(GRIN2A):c.2779A>G (p.Arg927Gly) rs761044372 0.00002
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile) rs762346849 0.00002
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416 0.00002
NM_001161352.2(KCNMA1):c.1849A>G (p.Thr617Ala) rs199572642 0.00002
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp) rs202188493 0.00002
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569 0.00002
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met) rs760789370 0.00002
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile) rs764912308 0.00002
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala) rs199568153 0.00002
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln) rs200410171 0.00002
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) rs201551432 0.00002
NM_001242896.3(DEPDC5):c.1078A>G (p.Asn360Asp) rs751948408 0.00002
NM_001242896.3(DEPDC5):c.1404G>T (p.Arg468Ser) rs544863765 0.00002
NM_001242896.3(DEPDC5):c.1411G>A (p.Gly471Ser) rs756780050 0.00002
NM_001242896.3(DEPDC5):c.1445+6C>T rs1275802105 0.00002
NM_001242896.3(DEPDC5):c.1459C>G (p.Arg487Gly) rs587777459 0.00002
NM_001242896.3(DEPDC5):c.1475G>A (p.Arg492Gln) rs745893053 0.00002
NM_001242896.3(DEPDC5):c.1729G>A (p.Val577Ile) rs573430885 0.00002
NM_001242896.3(DEPDC5):c.1775C>T (p.Thr592Met) rs187222350 0.00002
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro) rs774477005 0.00002
NM_001242896.3(DEPDC5):c.2006+3G>A rs752184633 0.00002
NM_001242896.3(DEPDC5):c.2519T>C (p.Leu840Pro) rs746197380 0.00002
NM_001242896.3(DEPDC5):c.2699A>G (p.Glu900Gly) rs755495732 0.00002
NM_001242896.3(DEPDC5):c.2995C>T (p.Arg999Trp) rs375050296 0.00002
NM_001242896.3(DEPDC5):c.3068C>T (p.Thr1023Met) rs780752142 0.00002
NM_001242896.3(DEPDC5):c.3247A>C (p.Met1083Leu) rs768817912 0.00002
NM_001242896.3(DEPDC5):c.3269G>A (p.Gly1090Glu) rs1217171263 0.00002
NM_001242896.3(DEPDC5):c.3823G>A (p.Ala1275Thr) rs1453526282 0.00002
NM_001242896.3(DEPDC5):c.3827C>T (p.Thr1276Ile) rs780045152 0.00002
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg) rs201765981 0.00002
NM_001242896.3(DEPDC5):c.3956G>A (p.Arg1319Gln) rs777643503 0.00002
NM_001242896.3(DEPDC5):c.483+4A>G rs369403922 0.00002
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=) rs577652236 0.00002
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg) rs760541660 0.00002
NM_001271.4(CHD2):c.1681G>A (p.Val561Ile) rs373363898 0.00002
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806 0.00002
NM_001271.4(CHD2):c.184A>C (p.Ser62Arg) rs199670886 0.00002
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu) rs368570245 0.00002
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_001271.4(CHD2):c.4580A>G (p.Lys1527Arg) rs771195215 0.00002
NM_001271.4(CHD2):c.5017C>T (p.His1673Tyr) rs190569275 0.00002
NM_001271.4(CHD2):c.5054G>A (p.Arg1685His) rs749360780 0.00002
NM_001271.4(CHD2):c.5095C>T (p.Pro1699Ser) rs777481677 0.00002
NM_001271.4(CHD2):c.5128C>T (p.Arg1710Trp) rs1000152328 0.00002
NM_001271.4(CHD2):c.5232G>A (p.Met1744Ile) rs761319790 0.00002
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727 0.00002
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp) rs771637309 0.00002
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153 0.00002
NM_001271.4(CHD2):c.569G>A (p.Arg190His) rs776934265 0.00002
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys) rs764705223 0.00002
NM_001271.4(CHD2):c.683A>G (p.Lys228Arg) rs764468460 0.00002
NM_003042.4(SLC6A1):c.769C>T (p.Arg257Cys) rs752750805 0.00002
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714 0.00002
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile) rs1407806851 0.00002
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp) rs201101417 0.00002
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg) rs776748629 0.00002
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile) rs768377570 0.00002
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly) rs200071814 0.00002
NM_004287.5(GOSR2):c.94+5G>A rs754004382 0.00002
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 0.00002
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu) rs146211149 0.00002
NM_005045.4(RELN):c.1405A>G (p.Thr469Ala) rs182533022 0.00002
NM_005045.4(RELN):c.1937G>A (p.Arg646Gln) rs377185504 0.00002
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) rs371652596 0.00002
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_005045.4(RELN):c.2189G>A (p.Arg730His) rs370858334 0.00002
NM_005045.4(RELN):c.226+4G>A rs749125854 0.00002
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp) rs759711654 0.00002
NM_005045.4(RELN):c.2566A>G (p.Ile856Val) rs371309082 0.00002
NM_005045.4(RELN):c.286A>G (p.Thr96Ala) rs564088219 0.00002
NM_005045.4(RELN):c.4397C>T (p.Thr1466Ile) rs188328812 0.00002
NM_005045.4(RELN):c.4649A>T (p.Asp1550Val) rs781465325 0.00002
NM_005045.4(RELN):c.4654A>G (p.Met1552Val) rs558308794 0.00002
NM_005045.4(RELN):c.4985C>T (p.Thr1662Ile) rs750833122 0.00002
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795 0.00002
NM_005045.4(RELN):c.5249A>G (p.Tyr1750Cys) rs1449221629 0.00002
NM_005045.4(RELN):c.5324G>A (p.Arg1775Gln) rs748363492 0.00002
NM_005045.4(RELN):c.5350G>A (p.Val1784Met) rs374736779 0.00002
NM_005045.4(RELN):c.5613A>G (p.Lys1871=) rs368944281 0.00002
NM_005045.4(RELN):c.6072+3A>G rs762092040 0.00002
NM_005045.4(RELN):c.6311G>A (p.Arg2104His) rs750878959 0.00002
NM_005045.4(RELN):c.7531G>A (p.Glu2511Lys) rs367906773 0.00002
NM_005045.4(RELN):c.7640C>T (p.Ala2547Val) rs770539689 0.00002
NM_005045.4(RELN):c.7945G>A (p.Asp2649Asn) rs551447146 0.00002
NM_005045.4(RELN):c.8003C>T (p.Thr2668Ile) rs144249461 0.00002
NM_005045.4(RELN):c.821G>A (p.Arg274His) rs143781910 0.00002
NM_005045.4(RELN):c.9076G>A (p.Val3026Met) rs766037038 0.00002
NM_005045.4(RELN):c.9673G>A (p.Val3225Met) rs755369509 0.00002
NM_005045.4(RELN):c.980A>G (p.Gln327Arg) rs890609228 0.00002
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr) rs781713047 0.00002
NM_005045.4(RELN):c.9977G>A (p.Arg3326Gln) rs766223649 0.00002
NM_005097.4(LGI1):c.1075A>G (p.Ile359Val) rs148263562 0.00002
NM_005097.4(LGI1):c.1220G>A (p.Arg407His) rs201376381 0.00002
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu) rs143808356 0.00002
NM_005097.4(LGI1):c.1598G>A (p.Arg533His) rs543647504 0.00002
NM_005097.4(LGI1):c.398A>G (p.His133Arg) rs376452111 0.00002
NM_005097.4(LGI1):c.626G>A (p.Arg209His) rs370151711 0.00002
NM_005097.4(LGI1):c.829A>G (p.Asn277Asp) rs571391768 0.00002
NM_005097.4(LGI1):c.983A>G (p.Lys328Arg) rs778819952 0.00002
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val) rs1311037416 0.00002
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901 0.00002
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro) rs767397350 0.00002
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile) rs557392749 0.00002
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910 0.00002
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu) rs370666555 0.00002
NM_005506.4(SCARB2):c.825-3C>T rs772593602 0.00002
NM_005670.4(EPM2A):c.352G>A (p.Val118Met) rs903313803 0.00002
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430 0.00002
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp) rs777767978 0.00002
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu) rs367827948 0.00002
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys) rs373652439 0.00002
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr) rs748514820 0.00002
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp) rs766334722 0.00002
NM_014467.3(SRPX2):c.1229G>A (p.Arg410His) rs368571175 0.00002
NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val) rs756623285 0.00002
NM_014467.3(SRPX2):c.1289G>A (p.Arg430His) rs183378773 0.00002
NM_014467.3(SRPX2):c.329G>A (p.Arg110His) rs1176341753 0.00002
NM_014467.3(SRPX2):c.553C>T (p.Arg185Cys) rs370080258 0.00002
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) rs768629864 0.00002
NM_014467.3(SRPX2):c.961+1G>A rs1303998333 0.00002
NM_015973.5(GAL):c.205G>A (p.Glu69Lys) rs571107777 0.00002
NM_015973.5(GAL):c.365G>A (p.Arg122Gln) rs777842785 0.00002
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys) rs573582894 0.00002
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser) rs546262142 0.00002
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys) rs777659552 0.00002
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) rs756563341 0.00002
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter) rs776277918 0.00002
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys) rs761440315 0.00002
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630 0.00002
NM_018100.4(EFHC1):c.16G>A (p.Val6Met) rs772150303 0.00002
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu) rs373267174 0.00002
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841 0.00002
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys) rs368992606 0.00002
NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln) rs745600475 0.00002
NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile) rs1430629936 0.00002
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser) rs267601073 0.00002
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter) rs571448222 0.00002
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr) rs375322518 0.00002
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val) rs928555901 0.00002
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp) rs779209462 0.00002
NM_020822.3(KCNT1):c.1328T>C (p.Met443Thr) rs763557773 0.00002
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile) rs368322298 0.00002
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys) rs774249834 0.00002
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys) rs557219607 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.1940C>T (p.Ala647Val) rs550751778 0.00002
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val) rs536588045 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg) rs769596439 0.00002
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp) rs772800657 0.00002
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu) rs760032575 0.00002
NM_020822.3(KCNT1):c.254+6G>C rs923032212 0.00002
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His) rs776239808 0.00002
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val) rs745484103 0.00002
NM_020822.3(KCNT1):c.3409C>T (p.Arg1137Cys) rs779430817 0.00002
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys) rs767450181 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile) rs754383898 0.00002
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His) rs780857518 0.00002
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys) rs771068120 0.00002
NM_020822.3(KCNT1):c.491+3G>A rs943935808 0.00002
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile) rs760870883 0.00002
NM_021267.5(CERS1):c.250C>A (p.Pro84Thr) rs755371379 0.00002
NM_021267.5(CERS1):c.443T>C (p.Ile148Thr) rs773594278 0.00002
NM_021267.5(CERS1):c.476A>G (p.Tyr159Cys) rs764228779 0.00002
NM_021267.5(CERS1):c.572T>C (p.Val191Ala) rs749102523 0.00002
NM_021267.5(CERS1):c.82G>A (p.Gly28Ser) rs1370577039 0.00002
NM_021267.5(CERS1):c.901-3C>A rs1464119106 0.00002
NM_021267.5(CERS1):c.962G>A (p.Arg321Gln) rs745387497 0.00002
NM_032737.4(LMNB2):c.1007G>A (p.Arg336Gln) rs772252986 0.00002
NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met) rs148473288 0.00002
NM_032737.4(LMNB2):c.1096G>A (p.Val366Met) rs759720954 0.00002
NM_032737.4(LMNB2):c.1267G>A (p.Gly423Ser) rs373722325 0.00002
NM_032737.4(LMNB2):c.1288C>T (p.Arg430Cys) rs367908162 0.00002
NM_032737.4(LMNB2):c.335G>A (p.Arg112Gln) rs367966814 0.00002
NM_032737.4(LMNB2):c.443G>A (p.Arg148His) rs779429811 0.00002
NM_032737.4(LMNB2):c.499C>G (p.Leu167Val) rs1599334955 0.00002
NM_032737.4(LMNB2):c.558+5G>A rs747264492 0.00002
NM_032737.4(LMNB2):c.613C>T (p.Arg205Cys) rs752321316 0.00002
NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys) rs773444127 0.00002
NM_032737.4(LMNB2):c.805G>A (p.Glu269Lys) rs201457236 0.00002
NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys) rs140495297 0.00002
NM_032737.4(LMNB2):c.922A>G (p.Lys308Glu) rs758385743 0.00002
NM_032737.4(LMNB2):c.932G>A (p.Arg311His) rs1372849024 0.00002
NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn) rs773422113 0.00002
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609 0.00002
NM_153026.3(PRICKLE1):c.1639+4C>T rs746747159 0.00002
NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp) rs890912439 0.00002
NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile) rs1359965296 0.00002
NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp) rs749854195 0.00002
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile) rs143947284 0.00002
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp) rs751021008 0.00002
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys) rs750226436 0.00002
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His) rs201705679 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992 0.00002
NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg) rs376845777 0.00002
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552 0.00002
NM_153033.5(KCTD7):c.195C>T (p.Arg65=) rs755849045 0.00002
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln) rs200575329 0.00002
NM_153033.5(KCTD7):c.398C>T (p.Ala133Val) rs372103637 0.00002
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu) rs151338966 0.00002
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met) rs760837610 0.00002
NM_178013.4(PRIMA1):c.292G>A (p.Ala98Thr) rs753046704 0.00002
NM_178013.4(PRIMA1):c.332T>C (p.Val111Ala) rs145843133 0.00002
NM_178013.4(PRIMA1):c.419C>T (p.Ser140Leu) rs769679879 0.00002
NM_178013.4(PRIMA1):c.431A>G (p.Lys144Arg) rs748192131 0.00002
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val) rs750935925 0.00002
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674 0.00002
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752 0.00002
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile) rs765576968 0.00002
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe) rs553900705 0.00002
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp) rs755232826 0.00002
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val) rs774955028 0.00002
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr) rs201476733 0.00002
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu) rs753591736 0.00002
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) rs747276703 0.00002
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_198904.4(GABRG2):c.691G>A (p.Asp231Asn) rs773065895 0.00002
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile) rs541671661 0.00001
NM_000100.4(CSTB):c.160T>G (p.Phe54Val) rs774291632 0.00001
NM_000100.4(CSTB):c.169G>T (p.Val57Leu) rs796052394 0.00001
NM_000100.4(CSTB):c.16C>G (p.Pro6Ala) rs1236504207 0.00001
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys) rs147307021 0.00001
NM_000100.4(CSTB):c.196C>T (p.His66Tyr) rs748818442 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr) rs761504637 0.00001
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly) rs138337167 0.00001
NM_000100.4(CSTB):c.274C>T (p.His92Tyr) rs796052393 0.00001
NM_000100.4(CSTB):c.28C>G (p.Gln10Glu) rs1399970116 0.00001
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947 0.00001
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys) rs1358304104 0.00001
NM_000742.4(CHRNA2):c.1007T>C (p.Met336Thr) rs754567543 0.00001
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala) rs538453326 0.00001
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile) rs1064797343 0.00001
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val) rs750301958 0.00001
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128 0.00001
NM_000742.4(CHRNA2):c.106G>T (p.Ala36Ser) rs771977388 0.00001
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile) rs888935641 0.00001
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val) rs1313467019 0.00001
NM_000742.4(CHRNA2):c.1095G>A (p.Trp365Ter) rs753568467 0.00001
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val) rs765772636 0.00001
NM_000742.4(CHRNA2):c.1151C>T (p.Pro384Leu) rs777510962 0.00001
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His) rs761054762 0.00001
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu) rs745670660 0.00001
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg) rs749199596 0.00001
NM_000742.4(CHRNA2):c.1231G>T (p.Glu411Ter) rs1328911807 0.00001
NM_000742.4(CHRNA2):c.1283A>C (p.His428Pro) rs1464665549 0.00001
NM_000742.4(CHRNA2):c.1331C>G (p.Ser444Cys) rs772465304 0.00001
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser) rs757019076 0.00001
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala) rs751242542 0.00001
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp) rs369803320 0.00001
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu) rs866092045 0.00001
NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu) rs773515773 0.00001
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg) rs762003141 0.00001
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739 0.00001
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys) rs139552324 0.00001
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys) rs201890355 0.00001
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840 0.00001
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu) rs752422797 0.00001
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp) rs1418872943 0.00001
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser) rs773956983 0.00001
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly) rs748032811 0.00001
NM_000742.4(CHRNA2):c.443A>G (p.Tyr148Cys) rs758688566 0.00001
NM_000742.4(CHRNA2):c.449+3A>T rs750588205 0.00001
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met) rs766076722 0.00001
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn) rs373358886 0.00001
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met) rs1488678087 0.00001
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val) rs1064793314 0.00001
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn) rs781326114 0.00001
NM_000742.4(CHRNA2):c.700G>A (p.Val234Ile) rs758793756 0.00001
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly) rs544814869 0.00001
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn) rs763633128 0.00001
NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr) rs1255648133 0.00001
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn) rs1586390822 0.00001
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp) rs376807512 0.00001
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066 0.00001
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val) rs1812595253 0.00001
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys) rs764887214 0.00001
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile) rs755014350 0.00001
NM_000742.4(CHRNA2):c.965C>T (p.Ser322Leu) rs775592017 0.00001
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser) rs56371471 0.00001
NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu) rs121912262 0.00001
NM_000744.7(CHRNA4):c.1034G>T (p.Arg345Leu) rs200666489 0.00001
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr) rs201052218 0.00001
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys) rs758534439 0.00001
NM_000744.7(CHRNA4):c.1077G>C (p.Lys359Asn) rs1292158071 0.00001
NM_000744.7(CHRNA4):c.1105C>T (p.Arg369Trp) rs201224423 0.00001
NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys) rs1064794565 0.00001
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met) rs121912269 0.00001
NM_000744.7(CHRNA4):c.1208C>T (p.Pro403Leu) rs766143571 0.00001
NM_000744.7(CHRNA4):c.1249G>A (p.Glu417Lys) rs369269532 0.00001
NM_000744.7(CHRNA4):c.1252C>T (p.Pro418Ser) rs1412148347 0.00001
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr) rs121912273 0.00001
NM_000744.7(CHRNA4):c.1277C>T (p.Ser426Phe) rs1064794408 0.00001
NM_000744.7(CHRNA4):c.1319C>T (p.Ala440Val) rs374914461 0.00001
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser) rs199914663 0.00001
NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu) rs766240756 0.00001
NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro) rs753598324 0.00001
NM_000744.7(CHRNA4):c.1378C>G (p.Leu460Val) rs1347805541 0.00001
NM_000744.7(CHRNA4):c.1432G>T (p.Val478Leu) rs757163324 0.00001
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp) rs998924085 0.00001
NM_000744.7(CHRNA4):c.1498C>T (p.Pro500Ser) rs770800835 0.00001
NM_000744.7(CHRNA4):c.1526C>T (p.Ala509Val) rs1256537631 0.00001
NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val) rs368476334 0.00001
NM_000744.7(CHRNA4):c.158G>A (p.Arg53Gln) rs1286318558 0.00001
NM_000744.7(CHRNA4):c.163G>A (p.Val55Met) rs1349610263 0.00001
NM_000744.7(CHRNA4):c.1652C>T (p.Thr551Ile) rs79438238 0.00001
NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro) rs1282336623 0.00001
NM_000744.7(CHRNA4):c.1696C>T (p.Arg566Trp) rs201674914 0.00001
NM_000744.7(CHRNA4):c.1720A>G (p.Ile574Val) rs748328796 0.00001
NM_000744.7(CHRNA4):c.176C>T (p.Ser59Leu) rs775143571 0.00001
NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met) rs370887602 0.00001
NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val) rs200698041 0.00001
NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His) rs752686095 0.00001
NM_000744.7(CHRNA4):c.1859C>T (p.Pro620Leu) rs754340834 0.00001
NM_000744.7(CHRNA4):c.190G>A (p.Val64Ile) rs756367182 0.00001
NM_000744.7(CHRNA4):c.212C>T (p.Ala71Val) rs753677594 0.00001
NM_000744.7(CHRNA4):c.226G>A (p.Val76Met) rs201115841 0.00001
NM_000744.7(CHRNA4):c.228+6T>C rs367917715 0.00001
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn) rs1204737071 0.00001
NM_000744.7(CHRNA4):c.274-1G>A rs1331861720 0.00001
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile) rs768527293 0.00001
NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val) rs1360629320 0.00001
NM_000744.7(CHRNA4):c.383+1G>A rs139129197 0.00001
NM_000744.7(CHRNA4):c.400G>A (p.Ala134Thr) rs796052321 0.00001
NM_000744.7(CHRNA4):c.425A>G (p.His142Arg) rs200550248 0.00001
NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile) rs762764855 0.00001
NM_000744.7(CHRNA4):c.663G>C (p.Arg221Ser) rs1174421657 0.00001
NM_000744.7(CHRNA4):c.673T>G (p.Cys225Gly) rs1263987235 0.00001
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met) rs200063611 0.00001
NM_000744.7(CHRNA4):c.697A>G (p.Ile233Val) rs1362651443 0.00001
NM_000744.7(CHRNA4):c.718C>T (p.Arg240Trp) rs757030850 0.00001
NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu) rs747083728 0.00001
NM_000744.7(CHRNA4):c.778C>A (p.Leu260Ile) rs770780958 0.00001
NM_000744.7(CHRNA4):c.827C>T (p.Thr276Met) rs796052323 0.00001
NM_000744.7(CHRNA4):c.859G>A (p.Val287Ile) rs772253190 0.00001
NM_000744.7(CHRNA4):c.940A>G (p.Met314Val) rs773225799 0.00001
NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val) rs200985465 0.00001
NM_000744.7(CHRNA4):c.985A>G (p.Asn329Asp) rs767865433 0.00001
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser) rs201046441 0.00001
NM_000744.7(CHRNA4):c.988G>A (p.Val330Met) rs951238893 0.00001
NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys) rs761631713 0.00001
NM_000744.7(CHRNA4):c.998G>A (p.Arg333His) rs1170843579 0.00001
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His) rs368787419 0.00001
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His) rs200924076 0.00001
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro) rs1226774233 0.00001
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp) rs757023317 0.00001
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe) rs1286192889 0.00001
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro) rs1440128191 0.00001
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn) rs932622161 0.00001
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) rs1409415937 0.00001
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp) rs1020953003 0.00001
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg) rs902984484 0.00001
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr) rs199658508 0.00001
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val) rs1166872057 0.00001
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) rs1225745274 0.00001
NM_000748.3(CHRNB2):c.1250G>A (p.Gly417Glu) rs1191094208 0.00001
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly) rs1475853887 0.00001
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro) rs747248135 0.00001
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val) rs916448473 0.00001
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375 0.00001
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) rs1049048240 0.00001
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487 0.00001
NM_000748.3(CHRNB2):c.1338C>T (p.Ser446=) rs201462348 0.00001
NM_000748.3(CHRNB2):c.1360G>A (p.Val454Ile) rs765202298 0.00001
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn) rs140505576 0.00001
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser) rs200855905 0.00001
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu) rs202135710 0.00001
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala) rs1420884732 0.00001
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile) rs762363770 0.00001
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile) rs1483069937 0.00001
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp) rs771286419 0.00001
NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu) rs772815972 0.00001
NM_000748.3(CHRNB2):c.255+6C>T rs754415116 0.00001
NM_000748.3(CHRNB2):c.271C>T (p.Arg91Cys) rs754725293 0.00001
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) rs752355994 0.00001
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533 0.00001
NM_000748.3(CHRNB2):c.366-3C>T rs1382302930 0.00001
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) rs922186544 0.00001
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met) rs763776515 0.00001
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) rs1330894666 0.00001
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His) rs768297928 0.00001
NM_000748.3(CHRNB2):c.546G>T (p.Glu182Asp) rs199696100 0.00001
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys) rs1260932072 0.00001
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val) rs201622476 0.00001
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys) rs572595325 0.00001
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser) rs200796605 0.00001
NM_000748.3(CHRNB2):c.658A>C (p.Thr220Pro) rs374183227 0.00001
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met) rs796052326 0.00001
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234 0.00001
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys) rs756406057 0.00001
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) rs373676452 0.00001
NM_000748.3(CHRNB2):c.794A>T (p.Lys265Met) rs1696166155 0.00001
NM_000748.3(CHRNB2):c.797T>C (p.Met266Thr) rs113672425 0.00001
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys) rs199919525 0.00001
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser) rs754992449 0.00001
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala) rs780962241 0.00001
NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln) rs758492974 0.00001
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) rs201004255 0.00001
NM_001077350.3(NPRL3):c.1032G>A (p.Leu344=) rs745938544 0.00001
NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser) rs765599501 0.00001
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe) rs1039004556 0.00001
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile) rs769246932 0.00001
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg) rs776081581 0.00001
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu) rs747324879 0.00001
NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr) rs751307143 0.00001
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys) rs1331117963 0.00001
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=) rs764156867 0.00001
NM_001077350.3(NPRL3):c.118A>G (p.Ser40Gly) rs1901205892 0.00001
NM_001077350.3(NPRL3):c.1198C>T (p.Arg400Cys) rs556683821 0.00001
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp) rs375530015 0.00001
NM_001077350.3(NPRL3):c.1204C>T (p.Leu402Phe) rs899497821 0.00001
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His) rs1426917813 0.00001
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405 0.00001
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu) rs746082270 0.00001
NM_001077350.3(NPRL3):c.1279G>A (p.Asp427Asn) rs769778379 0.00001
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn) rs529009740 0.00001
NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe) rs763320453 0.00001
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser) rs868572770 0.00001
NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser) rs941137627 0.00001
NM_001077350.3(NPRL3):c.139G>A (p.Ala47Thr) rs1401901852 0.00001
NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu) rs750482582 0.00001
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser) rs1898620865 0.00001
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys) rs756589112 0.00001
NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr) rs372717858 0.00001
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met) rs777208794 0.00001
NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His) rs375305549 0.00001
NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val) rs768263296 0.00001
NM_001077350.3(NPRL3):c.1561C>T (p.Arg521Cys) rs1305476231 0.00001
NM_001077350.3(NPRL3):c.1564G>A (p.Gly522Ser) rs752985390 0.00001
NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser) rs371517875 0.00001
NM_001077350.3(NPRL3):c.164C>G (p.Ala55Gly) rs1217583836 0.00001
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys) rs764005661 0.00001
NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile) rs764756422 0.00001
NM_001077350.3(NPRL3):c.17G>A (p.Ser6Asn) rs1901212695 0.00001
NM_001077350.3(NPRL3):c.20C>T (p.Pro7Leu) rs770799124 0.00001
NM_001077350.3(NPRL3):c.217T>G (p.Leu73Val) rs1900182866 0.00001
NM_001077350.3(NPRL3):c.341C>T (p.Pro114Leu) rs979345384 0.00001
NM_001077350.3(NPRL3):c.400G>A (p.Ala134Thr) rs779581743 0.00001
NM_001077350.3(NPRL3):c.407C>T (p.Pro136Leu) rs547462000 0.00001
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met) rs539649449 0.00001
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His) rs1215682749 0.00001
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys) rs769300436 0.00001
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His) rs370299128 0.00001
NM_001077350.3(NPRL3):c.535G>A (p.Ala179Thr) rs755120736 0.00001
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met) rs776199294 0.00001
NM_001077350.3(NPRL3):c.713C>T (p.Ala238Val) rs761366554 0.00001
NM_001077350.3(NPRL3):c.722G>C (p.Ser241Thr) rs1899228613 0.00001
NM_001077350.3(NPRL3):c.734C>A (p.Pro245Gln) rs763479734 0.00001
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp) rs577935445 0.00001
NM_001077350.3(NPRL3):c.752G>A (p.Ser251Asn) rs916257624 0.00001
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val) rs984688777 0.00001
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val) rs764890667 0.00001
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys) rs1021394339 0.00001
NM_001099403.2(PRDM8):c.1024C>A (p.Pro342Thr) rs552217106 0.00001
NM_001099403.2(PRDM8):c.1055C>A (p.Pro352Gln) rs1332727339 0.00001
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg) rs1220553796 0.00001
NM_001099403.2(PRDM8):c.1135G>A (p.Gly379Ser) rs1738596858 0.00001
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys) rs775117967 0.00001
NM_001099403.2(PRDM8):c.1164G>C (p.Glu388Asp) rs1402048793 0.00001
NM_001099403.2(PRDM8):c.1175C>G (p.Ala392Gly) rs1320384072 0.00001
NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val) rs772463473 0.00001
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr) rs568061115 0.00001
NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser) rs765881338 0.00001
NM_001099403.2(PRDM8):c.1283C>T (p.Ala428Val) rs1185570106 0.00001
NM_001099403.2(PRDM8):c.1324G>A (p.Gly442Arg) rs1393840872 0.00001
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly) rs907653529 0.00001
NM_001099403.2(PRDM8):c.1400G>A (p.Gly467Asp) rs1185771802 0.00001
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr) rs1738641895 0.00001
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser) rs1157815573 0.00001
NM_001099403.2(PRDM8):c.1453G>T (p.Gly485Cys) rs1024569997 0.00001
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser) rs1310667127 0.00001
NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg) rs1319969823 0.00001
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser) rs1254406151 0.00001
NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu) rs763088636 0.00001
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser) rs866553864 0.00001
NM_001099403.2(PRDM8):c.1637C>T (p.Ala546Val) rs781679159 0.00001
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514 0.00001
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys) rs762557383 0.00001
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His) rs776091682 0.00001
NM_001099403.2(PRDM8):c.1795G>A (p.Gly599Arg) rs1222858653 0.00001
NM_001099403.2(PRDM8):c.1807C>A (p.Leu603Met) rs1045840735 0.00001
NM_001099403.2(PRDM8):c.1832T>C (p.Leu611Pro) rs1317721429 0.00001
NM_001099403.2(PRDM8):c.1892A>G (p.Asn631Ser) rs763030062 0.00001
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495 0.00001
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser) rs200471159 0.00001
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys) rs1272386839 0.00001
NM_001099403.2(PRDM8):c.232G>A (p.Ala78Thr) rs974078652 0.00001
NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr) rs1214957885 0.00001
NM_001099403.2(PRDM8):c.296A>G (p.Glu99Gly) rs943924560 0.00001
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile) rs746198786 0.00001
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn) rs1274150288 0.00001
NM_001099403.2(PRDM8):c.428C>T (p.Ser143Phe) rs1319426778 0.00001
NM_001099403.2(PRDM8):c.488G>A (p.Arg163His) rs1191039908 0.00001
NM_001099403.2(PRDM8):c.514G>A (p.Ala172Thr) rs762974864 0.00001
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser) rs377755509 0.00001
NM_001099403.2(PRDM8):c.636G>C (p.Gln212His) rs767033532 0.00001
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly) rs1022510998 0.00001
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys) rs752328279 0.00001
NM_001099403.2(PRDM8):c.742G>A (p.Ala248Thr) rs750455114 0.00001
NM_001099403.2(PRDM8):c.814C>T (p.Arg272Trp) rs202018297 0.00001
NM_001099403.2(PRDM8):c.838G>A (p.Ala280Thr) rs1738548476 0.00001
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr) rs1296298879 0.00001
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205 0.00001
NM_001099403.2(PRDM8):c.861C>G (p.Ser287Arg) rs768031665 0.00001
NM_001099403.2(PRDM8):c.862G>A (p.Gly288Ser) rs930461579 0.00001
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser) rs756736858 0.00001
NM_001099403.2(PRDM8):c.919A>G (p.Thr307Ala) rs1487456427 0.00001
NM_001099403.2(PRDM8):c.935G>A (p.Gly312Glu) rs201579839 0.00001
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp) rs769365726 0.00001
NM_001099403.2(PRDM8):c.983G>C (p.Gly328Ala) rs1440891569 0.00001
NM_001099403.2(PRDM8):c.992G>A (p.Gly331Glu) rs1177151496 0.00001
NM_001112741.2(KCNC1):c.121G>A (p.Asp41Asn) rs1192156090 0.00001
NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn) rs773455390 0.00001
NM_001112741.2(KCNC1):c.1391C>T (p.Pro464Leu) rs899899700 0.00001
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser) rs143588903 0.00001
NM_001112741.2(KCNC1):c.1439A>G (p.His480Arg) rs1409273169 0.00001
NM_001112741.2(KCNC1):c.148C>T (p.Pro50Ser) rs763076681 0.00001
NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys) rs1243389624 0.00001
NM_001112741.2(KCNC1):c.1564A>G (p.Ile522Val) rs920182710 0.00001
NM_001112741.2(KCNC1):c.159C>A (p.Asp53Glu) rs1393327105 0.00001
NM_001112741.2(KCNC1):c.1606C>T (p.Arg536Cys) rs370730720 0.00001
NM_001112741.2(KCNC1):c.1607G>A (p.Arg536His) rs1442404828 0.00001
NM_001112741.2(KCNC1):c.1621G>A (p.Glu541Lys) rs896883949 0.00001
NM_001112741.2(KCNC1):c.1627T>C (p.Tyr543His) rs775725087 0.00001
NM_001112741.2(KCNC1):c.1663G>A (p.Ala555Thr) rs1237851177 0.00001
NM_001112741.2(KCNC1):c.1664C>T (p.Ala555Val) rs1006803225 0.00001
NM_001112741.2(KCNC1):c.1669C>T (p.Pro557Ser) rs773372284 0.00001
NM_001112741.2(KCNC1):c.1729A>C (p.Met577Leu) rs755441537 0.00001
NM_001112741.2(KCNC1):c.1739A>G (p.Glu580Gly) rs1284857169 0.00001
NM_001112741.2(KCNC1):c.394G>A (p.Asp132Asn) rs770445113 0.00001
NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu) rs749790557 0.00001
NM_001112741.2(KCNC1):c.511C>T (p.Arg171Cys) rs1286632713 0.00001
NM_001112741.2(KCNC1):c.523C>T (p.Arg175Cys) rs1197911307 0.00001
NM_001112741.2(KCNC1):c.571-9T>A rs1163443609 0.00001
NM_001112741.2(KCNC1):c.654C>A (p.Ile218=) rs747207268 0.00001
NM_001112741.2(KCNC1):c.667G>A (p.Glu223Lys) rs1849232122 0.00001
NM_001112741.2(KCNC1):c.701G>A (p.Arg234His) rs763794003 0.00001
NM_001112741.2(KCNC1):c.710G>A (p.Arg237Gln) rs200015927 0.00001
NM_001112741.2(KCNC1):c.751G>A (p.Val251Ile) rs1465921956 0.00001
NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser) rs368573465 0.00001
NM_001112741.2(KCNC1):c.889G>A (p.Gly297Ser) rs781542866 0.00001
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp) rs200482511 0.00001
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His) rs780236670 0.00001
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn) rs767865960 0.00001
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr) rs1307825318 0.00001
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr) rs750646140 0.00001
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp) rs769089864 0.00001
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu) rs776746623 0.00001
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser) rs1050971384 0.00001
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser) rs191197474 0.00001
NM_001122752.2(SERPINI1):c.250+5G>A rs1447537890 0.00001
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val) rs749315755 0.00001
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys) rs768598501 0.00001
NM_001122752.2(SERPINI1):c.481+4T>C rs1191891165 0.00001
NM_001122752.2(SERPINI1):c.482-5A>G rs1382961035 0.00001
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala) rs762427588 0.00001
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu) rs777452195 0.00001
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile) rs61761892 0.00001
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala) rs749782862 0.00001
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser) rs774334657 0.00001
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys) rs780784169 0.00001
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala) rs1210708843 0.00001
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His) rs151212615 0.00001
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr) rs772141992 0.00001
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile) rs760906938 0.00001
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val) rs756818970 0.00001
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp) rs1271122328 0.00001
NM_001134407.3(GRIN2A):c.1007+6A>G rs1427858640 0.00001
NM_001134407.3(GRIN2A):c.1019A>G (p.Asn340Ser) rs1040519934 0.00001
NM_001134407.3(GRIN2A):c.1123G>A (p.Val375Met) rs746834456 0.00001
NM_001134407.3(GRIN2A):c.1223T>C (p.Ile408Thr) rs1431001691 0.00001
NM_001134407.3(GRIN2A):c.1249G>A (p.Val417Ile) rs749504561 0.00001
NM_001134407.3(GRIN2A):c.1279G>C (p.Glu427Gln) rs560839364 0.00001
NM_001134407.3(GRIN2A):c.1295A>G (p.Asn432Ser) rs1390579090 0.00001
NM_001134407.3(GRIN2A):c.1310G>A (p.Arg437Gln) rs770071260 0.00001
NM_001134407.3(GRIN2A):c.1331A>G (p.Asn444Ser) rs747167014 0.00001
NM_001134407.3(GRIN2A):c.1341T>A (p.Asn447Lys) rs779989663 0.00001
NM_001134407.3(GRIN2A):c.1348A>T (p.Met450Leu) rs2042669462 0.00001
NM_001134407.3(GRIN2A):c.1675G>A (p.Val559Met) rs1476673300 0.00001
NM_001134407.3(GRIN2A):c.1738A>G (p.Ser580Gly) rs777029084 0.00001
NM_001134407.3(GRIN2A):c.1815A>G (p.Ile605Met) rs986690961 0.00001
NM_001134407.3(GRIN2A):c.2518C>T (p.Leu840Phe) rs371352783 0.00001
NM_001134407.3(GRIN2A):c.2552G>C (p.Gly851Ala) rs1447076076 0.00001
NM_001134407.3(GRIN2A):c.2647C>G (p.Pro883Ala) rs770982536 0.00001
NM_001134407.3(GRIN2A):c.268A>C (p.Met90Leu) rs2050232660 0.00001
NM_001134407.3(GRIN2A):c.269T>C (p.Met90Thr) rs933535128 0.00001
NM_001134407.3(GRIN2A):c.280C>T (p.Arg94Cys) rs1282664179 0.00001
NM_001134407.3(GRIN2A):c.2833G>A (p.Asp945Asn) rs1305013569 0.00001
NM_001134407.3(GRIN2A):c.2877C>G (p.Asn959Lys) rs756576680 0.00001
NM_001134407.3(GRIN2A):c.2985G>A (p.Thr995=) rs781646325 0.00001
NM_001134407.3(GRIN2A):c.3118G>A (p.Glu1040Lys) rs778490114 0.00001
NM_001134407.3(GRIN2A):c.3163G>C (p.Glu1055Gln) rs370107080 0.00001
NM_001134407.3(GRIN2A):c.3341G>C (p.Arg1114Thr) rs1555482504 0.00001
NM_001134407.3(GRIN2A):c.3373G>A (p.Glu1125Lys) rs1200593226 0.00001
NM_001134407.3(GRIN2A):c.3398C>G (p.Pro1133Arg) rs1311723266 0.00001
NM_001134407.3(GRIN2A):c.3433G>A (p.Val1145Met) rs779746293 0.00001
NM_001134407.3(GRIN2A):c.3522T>A (p.Asn1174Lys) rs772104446 0.00001
NM_001134407.3(GRIN2A):c.3678C>T (p.Gly1226=) rs749144109 0.00001
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln) rs886042648 0.00001
NM_001134407.3(GRIN2A):c.3863G>A (p.Arg1288His) rs778951185 0.00001
NM_001134407.3(GRIN2A):c.4126C>A (p.Arg1376Ser) rs1426934537 0.00001
NM_001134407.3(GRIN2A):c.4310A>G (p.Asn1437Ser) rs1427097667 0.00001
NM_001134407.3(GRIN2A):c.50T>C (p.Val17Ala) rs2050242755 0.00001
NM_001134407.3(GRIN2A):c.62C>T (p.Pro21Leu) rs749314552 0.00001
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val) rs199528312 0.00001
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile) rs756023062 0.00001
NM_001161352.2(KCNMA1):c.140C>T (p.Ser47Phe) rs907549386 0.00001
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr) rs199570223 0.00001
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336 0.00001
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val) rs781682363 0.00001
NM_001161352.2(KCNMA1):c.1594-6C>A rs1373150494 0.00001
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) rs143385319 0.00001
NM_001161352.2(KCNMA1):c.1749+5C>T rs868280659 0.00001
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly) rs760442123 0.00001
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) rs749265202 0.00001
NM_001161352.2(KCNMA1):c.1967A>C (p.Glu656Ala) rs917980352 0.00001
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr) rs2092521373 0.00001
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu) rs771363378 0.00001
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr) rs2075559827 0.00001
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu) rs145067821 0.00001
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609 0.00001
NM_001161352.2(KCNMA1):c.2404A>G (p.Met802Val) rs200544842 0.00001
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser) rs1211672809 0.00001
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) rs753684298 0.00001
NM_001161352.2(KCNMA1):c.2806A>G (p.Thr936Ala) rs201167566 0.00001
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile) rs768061213 0.00001
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile) rs201534741 0.00001
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr) rs199586877 0.00001
NM_001161352.2(KCNMA1):c.3147+3G>A rs1371574005 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala) rs2040120292 0.00001
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val) rs1005340112 0.00001
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser) rs1395464276 0.00001
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn) rs1314238418 0.00001
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) rs780623276 0.00001
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923 0.00001
NM_001161352.2(KCNMA1):c.3493G>C (p.Glu1165Gln) rs757053731 0.00001
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) rs200284976 0.00001
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218 0.00001
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207 0.00001
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe) rs777595748 0.00001
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu) rs202024249 0.00001
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly) rs985517880 0.00001
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln) rs760806787 0.00001
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg) rs1167824169 0.00001
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995 0.00001
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro) rs1370349180 0.00001
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp) rs139370249 0.00001
NM_001161352.2(KCNMA1):c.378+7C>T rs754351803 0.00001
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu) rs377430922 0.00001
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile) rs1002138627 0.00001
NM_001161352.2(KCNMA1):c.4G>A (p.Ala2Thr) rs1344908173 0.00001
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp) rs888320237 0.00001
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg) rs771113362 0.00001
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) rs779829350 0.00001
NM_001161352.2(KCNMA1):c.96C>G (p.Asn32Lys) rs749212119 0.00001
NM_001242896.3(DEPDC5):c.1010C>T (p.Thr337Met) rs1037878155 0.00001
NM_001242896.3(DEPDC5):c.1015G>A (p.Gly339Arg) rs761634410 0.00001
NM_001242896.3(DEPDC5):c.1040G>A (p.Arg347His) rs760668998 0.00001
NM_001242896.3(DEPDC5):c.1261C>G (p.Pro421Ala) rs764297665 0.00001
NM_001242896.3(DEPDC5):c.1272A>T (p.Lys424Asn) rs1406415856 0.00001
NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val) rs2087513191 0.00001
NM_001242896.3(DEPDC5):c.1287+3A>G rs750267006 0.00001
NM_001242896.3(DEPDC5):c.1315C>T (p.Arg439Cys) rs777306555 0.00001
NM_001242896.3(DEPDC5):c.1325-10T>C rs752612331 0.00001
NM_001242896.3(DEPDC5):c.1339A>G (p.Lys447Glu) rs756972161 0.00001
NM_001242896.3(DEPDC5):c.1381G>A (p.Ala461Thr) rs771161131 0.00001
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981 0.00001
NM_001242896.3(DEPDC5):c.1393C>G (p.Gln465Glu) rs886039260 0.00001
NM_001242896.3(DEPDC5):c.1421G>A (p.Arg474Gln) rs1349979537 0.00001
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278 0.00001
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln) rs775080915 0.00001
NM_001242896.3(DEPDC5):c.1489T>C (p.Ser497Pro) rs1181000748 0.00001
NM_001242896.3(DEPDC5):c.1550G>A (p.Arg517Lys) rs765781653 0.00001
NM_001242896.3(DEPDC5):c.1594A>G (p.Ile532Val) rs764496748 0.00001
NM_001242896.3(DEPDC5):c.1609C>T (p.His537Tyr) rs1314485669 0.00001
NM_001242896.3(DEPDC5):c.1610A>G (p.His537Arg) rs988963661 0.00001
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln) rs199688798 0.00001
NM_001242896.3(DEPDC5):c.1666G>A (p.Asp556Asn) rs1064795160 0.00001
NM_001242896.3(DEPDC5):c.167A>G (p.Lys56Arg) rs966689579 0.00001
NM_001242896.3(DEPDC5):c.1700G>A (p.Arg567Gln) rs985499891 0.00001
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu) rs1236432902 0.00001
NM_001242896.3(DEPDC5):c.1720A>G (p.Arg574Gly) rs762484005 0.00001
NM_001242896.3(DEPDC5):c.1777C>T (p.Pro593Ser) rs777632867 0.00001
NM_001242896.3(DEPDC5):c.1782G>C (p.Gln594His) rs1446743254 0.00001
NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met) rs918653735 0.00001
NM_001242896.3(DEPDC5):c.1888A>G (p.Ile630Val) rs775666547 0.00001
NM_001242896.3(DEPDC5):c.1936A>G (p.Ser646Gly) rs377294383 0.00001
NM_001242896.3(DEPDC5):c.194-3T>C rs749093030 0.00001
NM_001242896.3(DEPDC5):c.2006+4A>G rs758150938 0.00001
NM_001242896.3(DEPDC5):c.2098G>T (p.Gly700Cys) rs767158228 0.00001
NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142 0.00001
NM_001242896.3(DEPDC5):c.2161C>A (p.Pro721Thr) rs568282457 0.00001
NM_001242896.3(DEPDC5):c.2281C>T (p.Pro761Ser) rs2091060364 0.00001
NM_001242896.3(DEPDC5):c.2335C>G (p.Pro779Ala) rs756599738 0.00001
NM_001242896.3(DEPDC5):c.2341G>C (p.Ala781Pro) rs761280493 0.00001
NM_001242896.3(DEPDC5):c.2354+6T>C rs2091065559 0.00001
NM_001242896.3(DEPDC5):c.2387A>G (p.Gln796Arg) rs1219014589 0.00001
NM_001242896.3(DEPDC5):c.2444T>C (p.Val815Ala) rs777644077 0.00001
NM_001242896.3(DEPDC5):c.2482C>T (p.Pro828Ser) rs200526736 0.00001
NM_001242896.3(DEPDC5):c.2519T>A (p.Leu840His) rs746197380 0.00001
NM_001242896.3(DEPDC5):c.2528G>A (p.Arg843Gln) rs756611357 0.00001
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys) rs780652126 0.00001
NM_001242896.3(DEPDC5):c.2534G>A (p.Arg845His) rs1396979413 0.00001
NM_001242896.3(DEPDC5):c.2550C>G (p.Asp850Glu) rs774408944 0.00001
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys) rs377039864 0.00001
NM_001242896.3(DEPDC5):c.2590A>T (p.Thr864Ser) rs752198928 0.00001
NM_001242896.3(DEPDC5):c.2618C>T (p.Thr873Met) rs2091503304 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001242896.3(DEPDC5):c.2690C>T (p.Ser897Leu) rs371496533 0.00001
NM_001242896.3(DEPDC5):c.2731G>A (p.Glu911Lys) rs1214608865 0.00001
NM_001242896.3(DEPDC5):c.2735G>A (p.Arg912Gln) rs781159677 0.00001
NM_001242896.3(DEPDC5):c.279+3A>G rs1211730596 0.00001
NM_001242896.3(DEPDC5):c.280-5T>C rs1478867993 0.00001
NM_001242896.3(DEPDC5):c.2834G>A (p.Arg945His) rs772897391 0.00001
NM_001242896.3(DEPDC5):c.2863G>A (p.Ala955Thr) rs538998618 0.00001
NM_001242896.3(DEPDC5):c.2879C>T (p.Thr960Met) rs1064795107 0.00001
NM_001242896.3(DEPDC5):c.2890G>A (p.Ala964Thr) rs780008727 0.00001
NM_001242896.3(DEPDC5):c.2894A>G (p.His965Arg) rs2091648587 0.00001
NM_001242896.3(DEPDC5):c.28G>A (p.Val10Ile) rs375027042 0.00001
NM_001242896.3(DEPDC5):c.2942A>G (p.Gln981Arg) rs763270938 0.00001
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met) rs797045522 0.00001
NM_001242896.3(DEPDC5):c.3008A>G (p.Asp1003Gly) rs1413417458 0.00001
NM_001242896.3(DEPDC5):c.3011G>A (p.Arg1004His) rs754059546 0.00001
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr) rs935896142 0.00001
NM_001242896.3(DEPDC5):c.3019C>T (p.Arg1007Trp) rs1283955876 0.00001
NM_001242896.3(DEPDC5):c.3020G>A (p.Arg1007Gln) rs758260908 0.00001
NM_001242896.3(DEPDC5):c.302A>T (p.Glu101Val) rs1395076142 0.00001
NM_001242896.3(DEPDC5):c.3049A>G (p.Met1017Val) rs777729993 0.00001
NM_001242896.3(DEPDC5):c.3071A>C (p.His1024Pro) rs779166833 0.00001
NM_001242896.3(DEPDC5):c.307A>T (p.Thr103Ser) rs778746859 0.00001
NM_001242896.3(DEPDC5):c.3097G>T (p.Val1033Leu) rs376313159 0.00001
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe) rs771407307 0.00001
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr) rs763158282 0.00001
NM_001242896.3(DEPDC5):c.3203C>T (p.Ala1068Val) rs763883192 0.00001
NM_001242896.3(DEPDC5):c.3212C>T (p.Ala1071Val) rs750296306 0.00001
NM_001242896.3(DEPDC5):c.3220A>G (p.Ser1074Gly) rs778292246 0.00001
NM_001242896.3(DEPDC5):c.3232A>G (p.Met1078Val) rs746349872 0.00001
NM_001242896.3(DEPDC5):c.3256C>T (p.Pro1086Ser) rs914056153 0.00001
NM_001242896.3(DEPDC5):c.3268G>A (p.Gly1090Arg) rs1490171877 0.00001
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val) rs772812141 0.00001
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His) rs1185705971 0.00001
NM_001242896.3(DEPDC5):c.3319T>C (p.Phe1107Leu) rs1481478267 0.00001
NM_001242896.3(DEPDC5):c.3367G>A (p.Gly1123Ser) rs752667037 0.00001
NM_001242896.3(DEPDC5):c.3377T>G (p.Leu1126Trp) rs1209384122 0.00001
NM_001242896.3(DEPDC5):c.3380G>A (p.Gly1127Asp) rs941078167 0.00001
NM_001242896.3(DEPDC5):c.3385T>C (p.Cys1129Arg) rs1037109139 0.00001
NM_001242896.3(DEPDC5):c.3398C>T (p.Ser1133Phe) rs1199651277 0.00001
NM_001242896.3(DEPDC5):c.347G>A (p.Arg116Gln) rs777623410 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.3564-3C>G rs2092931141 0.00001
NM_001242896.3(DEPDC5):c.3605C>T (p.Pro1202Leu) rs780318358 0.00001
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val) rs772280549 0.00001
NM_001242896.3(DEPDC5):c.363+5G>C rs2082845308 0.00001
NM_001242896.3(DEPDC5):c.3652G>A (p.Val1218Met) rs752695099 0.00001
NM_001242896.3(DEPDC5):c.3695A>G (p.Gln1232Arg) rs1161767456 0.00001
NM_001242896.3(DEPDC5):c.3736G>A (p.Glu1246Lys) rs1278012679 0.00001
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg) rs778986487 0.00001
NM_001242896.3(DEPDC5):c.3780A>G (p.Ile1260Met) rs1245190784 0.00001
NM_001242896.3(DEPDC5):c.3811A>G (p.Met1271Val) rs373588101 0.00001
NM_001242896.3(DEPDC5):c.3853G>A (p.Asp1285Asn) rs746938769 0.00001
NM_001242896.3(DEPDC5):c.3872G>A (p.Arg1291His) rs759266712 0.00001
NM_001242896.3(DEPDC5):c.3910G>A (p.Val1304Met) rs750936617 0.00001
NM_001242896.3(DEPDC5):c.3968A>G (p.Tyr1323Cys) rs1346869002 0.00001
NM_001242896.3(DEPDC5):c.3999T>G (p.Ser1333Arg) rs1310040868 0.00001
NM_001242896.3(DEPDC5):c.4014C>G (p.Ser1338Arg) rs1384860628 0.00001
NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp) rs1014849515 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001242896.3(DEPDC5):c.4124A>G (p.His1375Arg) rs1260083367 0.00001
NM_001242896.3(DEPDC5):c.4203+16C>T rs2093490070 0.00001
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu) rs753759814 0.00001
NM_001242896.3(DEPDC5):c.4300C>T (p.Pro1434Ser) rs1188012593 0.00001
NM_001242896.3(DEPDC5):c.4306C>T (p.Arg1436Cys) rs778323702 0.00001
NM_001242896.3(DEPDC5):c.4307G>A (p.Arg1436His) rs948206788 0.00001
NM_001242896.3(DEPDC5):c.4331A>C (p.Asn1444Thr) rs758019161 0.00001
NM_001242896.3(DEPDC5):c.4354G>A (p.Gly1452Ser) rs1452980660 0.00001
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=) rs377333936 0.00001
NM_001242896.3(DEPDC5):c.4407G>A (p.Met1469Ile) rs2093652679 0.00001
NM_001242896.3(DEPDC5):c.4505A>C (p.Tyr1502Ser) rs925107113 0.00001
NM_001242896.3(DEPDC5):c.4571A>G (p.Gln1524Arg) rs377585542 0.00001
NM_001242896.3(DEPDC5):c.4574G>A (p.Arg1525Gln) rs370366925 0.00001
NM_001242896.3(DEPDC5):c.4577G>A (p.Arg1526Gln) rs760341957 0.00001
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln) rs758757956 0.00001
NM_001242896.3(DEPDC5):c.4592C>T (p.Thr1531Ile) rs1064794532 0.00001
NM_001242896.3(DEPDC5):c.4594A>G (p.Ser1532Gly) rs752046892 0.00001
NM_001242896.3(DEPDC5):c.4601C>G (p.Thr1534Ser) rs376838464 0.00001
NM_001242896.3(DEPDC5):c.4628G>A (p.Arg1543Gln) rs749089911 0.00001
NM_001242896.3(DEPDC5):c.4630G>A (p.Val1544Ile) rs768487257 0.00001
NM_001242896.3(DEPDC5):c.4635C>G (p.Gly1545=) rs41279981 0.00001
NM_001242896.3(DEPDC5):c.469A>T (p.Ser157Cys) rs201225084 0.00001
NM_001242896.3(DEPDC5):c.4711C>T (p.Arg1571Trp) rs778708641 0.00001
NM_001242896.3(DEPDC5):c.4712G>A (p.Arg1571Gln) rs748114243 0.00001
NM_001242896.3(DEPDC5):c.4727T>G (p.Phe1576Cys) rs1025857773 0.00001
NM_001242896.3(DEPDC5):c.4745A>G (p.Asn1582Ser) rs1415667624 0.00001
NM_001242896.3(DEPDC5):c.4747C>T (p.Arg1583Cys) rs759170497 0.00001
NM_001242896.3(DEPDC5):c.4757G>A (p.Arg1586Gln) rs774659889 0.00001
NM_001242896.3(DEPDC5):c.4795C>T (p.His1599Tyr) rs766418499 0.00001
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu) rs755174447 0.00001
NM_001242896.3(DEPDC5):c.490T>G (p.Phe164Val) rs1359773870 0.00001
NM_001242896.3(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503 0.00001
NM_001242896.3(DEPDC5):c.503C>T (p.Ser168Leu) rs377718352 0.00001
NM_001242896.3(DEPDC5):c.554A>G (p.Asp185Gly) rs2084720246 0.00001
NM_001242896.3(DEPDC5):c.590_592del (p.Asn197_Gly198delinsSer) rs752918565 0.00001
NM_001242896.3(DEPDC5):c.638G>C (p.Ser213Thr) rs374290113 0.00001
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu) rs1397187284 0.00001
NM_001242896.3(DEPDC5):c.724A>G (p.Ile242Val) rs112040696 0.00001
NM_001242896.3(DEPDC5):c.728G>A (p.Arg243Gln) rs368129922 0.00001
NM_001242896.3(DEPDC5):c.763T>C (p.Tyr255His) rs372371916 0.00001
NM_001242896.3(DEPDC5):c.821T>C (p.Ile274Thr) rs1172897578 0.00001
NM_001242896.3(DEPDC5):c.946+20A>G rs2086531822 0.00001
NM_001242896.3(DEPDC5):c.953A>G (p.Asp318Gly) rs1064795102 0.00001
NM_001242896.3(DEPDC5):c.983G>A (p.Arg328Gln) rs775605247 0.00001
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584 0.00001
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu) rs1249403093 0.00001
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser) rs2052524504 0.00001
NM_001271.4(CHD2):c.1207C>T (p.Arg403Trp) rs1438580585 0.00001
NM_001271.4(CHD2):c.1225A>G (p.Asn409Asp) rs531251618 0.00001
NM_001271.4(CHD2):c.12T>G (p.Asn4Lys) rs750955957 0.00001
NM_001271.4(CHD2):c.1357A>T (p.Ile453Phe) rs144393676 0.00001
NM_001271.4(CHD2):c.1582C>G (p.His528Asp) rs776364124 0.00001
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518 0.00001
NM_001271.4(CHD2):c.1718C>T (p.Thr573Met) rs780171086 0.00001
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr) rs757715547 0.00001
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289 0.00001
NM_001271.4(CHD2):c.2230A>G (p.Thr744Ala) rs1596418984 0.00001
NM_001271.4(CHD2):c.2352+4G>C rs1173333743 0.00001
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys) rs1567148426 0.00001
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu) rs770126779 0.00001
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met) rs1064794542 0.00001
NM_001271.4(CHD2):c.3238-3C>T rs1596437905 0.00001
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys) rs200013427 0.00001
NM_001271.4(CHD2):c.3355C>T (p.Arg1119Cys) rs370737593 0.00001
NM_001271.4(CHD2):c.3359C>T (p.Pro1120Leu) rs2054032013 0.00001
NM_001271.4(CHD2):c.3371G>A (p.Arg1124Gln) rs746349198 0.00001
NM_001271.4(CHD2):c.3377A>G (p.Asp1126Gly) rs1343182559 0.00001
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly) rs927604763 0.00001
NM_001271.4(CHD2):c.3536A>G (p.Asn1179Ser) rs561920953 0.00001
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly) rs759269259 0.00001
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr) rs561941628 0.00001
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys) rs757981280 0.00001
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys) rs559187972 0.00001
NM_001271.4(CHD2):c.3649G>C (p.Val1217Leu) rs1465237014 0.00001
NM_001271.4(CHD2):c.3672A>G (p.Gln1224=) rs768542034 0.00001
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His) rs1410226460 0.00001
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu) rs1273405855 0.00001
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys) rs766747626 0.00001
NM_001271.4(CHD2):c.4137+5G>A rs762703910 0.00001
NM_001271.4(CHD2):c.4193A>C (p.Lys1398Thr) rs1239452633 0.00001
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val) rs750869247 0.00001
NM_001271.4(CHD2):c.4225A>G (p.Lys1409Glu) rs1334969628 0.00001
NM_001271.4(CHD2):c.4228G>T (p.Asp1410Tyr) rs775901148 0.00001
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly) rs1304514223 0.00001
NM_001271.4(CHD2):c.4279-4A>G rs774362000 0.00001
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu) rs374157769 0.00001
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser) rs913833972 0.00001
NM_001271.4(CHD2):c.4541C>T (p.Ala1514Val) rs779865037 0.00001
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe) rs1443730022 0.00001
NM_001271.4(CHD2):c.4678T>A (p.Ser1560Thr) rs747637652 0.00001
NM_001271.4(CHD2):c.4714G>A (p.Val1572Met) rs755267457 0.00001
NM_001271.4(CHD2):c.4793C>T (p.Ser1598Leu) rs1382300456 0.00001
NM_001271.4(CHD2):c.4811A>C (p.Gln1604Pro) rs1355095407 0.00001
NM_001271.4(CHD2):c.4826C>T (p.Pro1609Leu) rs745396398 0.00001
NM_001271.4(CHD2):c.4864G>A (p.Asp1622Asn) rs1044619239 0.00001
NM_001271.4(CHD2):c.486A>C (p.Gln162His) rs1018764419 0.00001
NM_001271.4(CHD2):c.4910G>A (p.Arg1637Gln) rs752891322 0.00001
NM_001271.4(CHD2):c.4931G>A (p.Arg1644Lys) rs997227724 0.00001
NM_001271.4(CHD2):c.4960A>C (p.Asn1654His) rs1437890850 0.00001
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser) rs1064795301 0.00001
NM_001271.4(CHD2):c.5008T>C (p.Tyr1670His) rs775504391 0.00001
NM_001271.4(CHD2):c.5009A>G (p.Tyr1670Cys) rs897082911 0.00001
NM_001271.4(CHD2):c.5051A>T (p.His1684Leu) rs770784804 0.00001
NM_001271.4(CHD2):c.5059G>A (p.Gly1687Arg) rs149696735 0.00001
NM_001271.4(CHD2):c.5129G>A (p.Arg1710Gln) rs762575438 0.00001
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr) rs1006465697 0.00001
NM_001271.4(CHD2):c.5153G>A (p.Arg1718Lys) rs2054517021 0.00001
NM_001271.4(CHD2):c.5154-3C>A rs924030126 0.00001
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala) rs1461476360 0.00001
NM_001271.4(CHD2):c.5211C>G (p.His1737Gln) rs1350393242 0.00001
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys) rs767099765 0.00001
NM_001271.4(CHD2):c.5258A>G (p.Tyr1753Cys) rs765267794 0.00001
NM_001271.4(CHD2):c.5267A>T (p.Gln1756Leu) rs1045351387 0.00001
NM_001271.4(CHD2):c.5287C>T (p.Arg1763Cys) rs1486760399 0.00001
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala) rs374271060 0.00001
NM_001271.4(CHD2):c.5348C>T (p.Ala1783Val) rs1485233200 0.00001
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys) rs759259416 0.00001
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg) rs1287619700 0.00001
NM_001271.4(CHD2):c.5476C>T (p.Arg1826Trp) rs759398974 0.00001
NM_001271.4(CHD2):c.547A>G (p.Arg183Gly) rs1264879568 0.00001
NM_001271.4(CHD2):c.557T>C (p.Val186Ala) rs760795656 0.00001
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu) rs377701152 0.00001
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833 0.00001
NM_001271.4(CHD2):c.599G>A (p.Gly200Glu) rs368498690 0.00001
NM_001271.4(CHD2):c.601A>G (p.Lys201Glu) rs750067899 0.00001
NM_001271.4(CHD2):c.623C>T (p.Ser208Phe) rs2053325261 0.00001
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803 0.00001
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu) rs768365369 0.00001
NM_001271.4(CHD2):c.663G>C (p.Gln221His) rs776917899 0.00001
NM_001271.4(CHD2):c.668G>A (p.Arg223His) rs1041959719 0.00001
NM_001271.4(CHD2):c.688G>T (p.Val230Phe) rs762370978 0.00001
NM_001271.4(CHD2):c.758T>C (p.Val253Ala) rs773621487 0.00001
NM_001271.4(CHD2):c.825A>T (p.Gly275=) rs372257500 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr) rs1313540517 0.00001
NM_001271.4(CHD2):c.857T>C (p.Ile286Thr) rs530919126 0.00001
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn) rs201819533 0.00001
NM_001271.4(CHD2):c.878G>C (p.Ser293Thr) rs1555439526 0.00001
NM_001271.4(CHD2):c.890A>T (p.Asp297Val) rs527697910 0.00001
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu) rs377012056 0.00001
NM_003042.4(SLC6A1):c.1191+3del rs1486885212 0.00001
NM_003042.4(SLC6A1):c.1255C>T (p.Arg419Cys) rs910130675 0.00001
NM_003042.4(SLC6A1):c.1426G>A (p.Gly476Ser) rs1328806521 0.00001
NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=) rs199832552 0.00001
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr) rs755011081 0.00001
NM_003042.4(SLC6A1):c.1696-3C>T rs763356899 0.00001
NM_003042.4(SLC6A1):c.1748G>T (p.Gly583Val) rs1274193602 0.00001
NM_003042.4(SLC6A1):c.238+5G>T rs747465142 0.00001
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn) rs751108300 0.00001
NM_003042.4(SLC6A1):c.582-3C>T rs368174761 0.00001
NM_003042.4(SLC6A1):c.589A>G (p.Met197Val) rs1031299891 0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
NM_003042.4(SLC6A1):c.714+5G>A rs770987659 0.00001
NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly) rs1027128426 0.00001
NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser) rs1395387100 0.00001
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe) rs1271404941 0.00001
NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile) rs1409813316 0.00001
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser) rs148962223 0.00001
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val) rs756276963 0.00001
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg) rs772763319 0.00001
NM_004287.5(GOSR2):c.140G>A (p.Arg47His) rs771228855 0.00001
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr) rs897281647 0.00001
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys) rs1286041018 0.00001
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg) rs1396367618 0.00001
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) rs879328855 0.00001
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp) rs770149230 0.00001
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro) rs780211637 0.00001
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr) rs920586501 0.00001
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val) rs577835455 0.00001
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser) rs374912150 0.00001
NM_004287.5(GOSR2):c.266A>G (p.His89Arg) rs1598989011 0.00001
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu) rs1278419518 0.00001
NM_004287.5(GOSR2):c.29+3G>A rs794726915 0.00001
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala) rs780448159 0.00001
NM_004287.5(GOSR2):c.336C>T (p.Asn112=) rs755211944 0.00001
NM_004287.5(GOSR2):c.358A>G (p.Met120Val) rs769454681 0.00001
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) rs374613085 0.00001
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro) rs1189596801 0.00001
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val) rs756144831 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp) rs771037415 0.00001
NM_004287.5(GOSR2):c.55A>G (p.Met19Val) rs770329469 0.00001
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr) rs374861039 0.00001
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly) rs773543394 0.00001
NM_004287.5(GOSR2):c.94+4A>G rs796052540 0.00001
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209 0.00001
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met) rs750618124 0.00001
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu) rs1373361613 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1545+6T>C rs368249222 0.00001
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys) rs1414107946 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val) rs1474835177 0.00001
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu) rs1353174747 0.00001
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser) rs1131692001 0.00001
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile) rs1006999214 0.00001
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) rs766504829 0.00001
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu) rs1431736054 0.00001
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys) rs752917058 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp) rs1214581005 0.00001
NM_005045.4(RELN):c.1009G>A (p.Glu337Lys) rs560655563 0.00001
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val) rs752768228 0.00001
NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr) rs759744782 0.00001
NM_005045.4(RELN):c.10131C>G (p.His3377Gln) rs767876947 0.00001
NM_005045.4(RELN):c.10157A>G (p.Gln3386Arg) rs1562841823 0.00001
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser) rs771869485 0.00001
NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln) rs866584196 0.00001
NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys) rs772932844 0.00001
NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser) rs747044548 0.00001
NM_005045.4(RELN):c.10288A>C (p.Thr3430Pro) rs1392502152 0.00001
NM_005045.4(RELN):c.10292G>A (p.Arg3431His) rs1442266027 0.00001
NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter) rs866898263 0.00001
NM_005045.4(RELN):c.1189G>A (p.Glu397Lys) rs1554402135 0.00001
NM_005045.4(RELN):c.1193G>A (p.Gly398Asp) rs766992224 0.00001
NM_005045.4(RELN):c.1252G>A (p.Glu418Lys) rs983845835 0.00001
NM_005045.4(RELN):c.127C>A (p.His43Asn) rs369522512 0.00001
NM_005045.4(RELN):c.1290A>G (p.Gly430=) rs750986647 0.00001
NM_005045.4(RELN):c.1302G>C (p.Leu434Phe) rs1338264030 0.00001
NM_005045.4(RELN):c.1435G>T (p.Val479Leu) rs1220962945 0.00001
NM_005045.4(RELN):c.1499T>C (p.Ile500Thr) rs759633233 0.00001
NM_005045.4(RELN):c.1517A>T (p.His506Leu) rs375542264 0.00001
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile) rs372928932 0.00001
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys) rs745368912 0.00001
NM_005045.4(RELN):c.163G>A (p.Val55Met) rs753619762 0.00001
NM_005045.4(RELN):c.1688T>G (p.Val563Gly) rs1832944514 0.00001
NM_005045.4(RELN):c.1759A>G (p.Asn587Asp) rs1051169273 0.00001
NM_005045.4(RELN):c.1763+3A>G rs371095209 0.00001
NM_005045.4(RELN):c.1769G>C (p.Ser590Thr) rs779939013 0.00001
NM_005045.4(RELN):c.1820A>G (p.Glu607Gly) rs1554397636 0.00001
NM_005045.4(RELN):c.1846C>T (p.Pro616Ser) rs1460850066 0.00001
NM_005045.4(RELN):c.1892G>A (p.Gly631Glu) rs398124190 0.00001
NM_005045.4(RELN):c.1893-3C>T rs1214133012 0.00001
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala) rs756344611 0.00001
NM_005045.4(RELN):c.1970C>T (p.Pro657Leu) rs1325531129 0.00001
NM_005045.4(RELN):c.1975C>A (p.Leu659Ile) rs199851352 0.00001
NM_005045.4(RELN):c.2053A>G (p.Thr685Ala) rs779358126 0.00001
NM_005045.4(RELN):c.2171A>G (p.His724Arg) rs746516208 0.00001
NM_005045.4(RELN):c.226+4G>C rs749125854 0.00001
NM_005045.4(RELN):c.232A>G (p.Ile78Val) rs768499951 0.00001
NM_005045.4(RELN):c.2351C>T (p.Thr784Met) rs144235468 0.00001
NM_005045.4(RELN):c.2425C>T (p.Leu809Phe) rs1452060313 0.00001
NM_005045.4(RELN):c.2465+5G>T rs772717691 0.00001
NM_005045.4(RELN):c.2603G>A (p.Ser868Asn) rs926955647 0.00001
NM_005045.4(RELN):c.261G>T (p.Leu87Phe) rs779347175 0.00001
NM_005045.4(RELN):c.2725G>T (p.Ala909Ser) rs1167526294 0.00001
NM_005045.4(RELN):c.2860A>G (p.Thr954Ala) rs1471834146 0.00001
NM_005045.4(RELN):c.293T>C (p.Val98Ala) rs1471699014 0.00001
NM_005045.4(RELN):c.3005C>G (p.Thr1002Ser) rs1376812440 0.00001
NM_005045.4(RELN):c.3008+6A>G rs1229943471 0.00001
NM_005045.4(RELN):c.3022C>T (p.Arg1008Cys) rs774777246 0.00001
NM_005045.4(RELN):c.3107T>A (p.Met1036Lys) rs1831762757 0.00001
NM_005045.4(RELN):c.3109T>G (p.Cys1037Gly) rs1262470607 0.00001
NM_005045.4(RELN):c.3146+5G>A rs1468648706 0.00001
NM_005045.4(RELN):c.3164A>G (p.Gln1055Arg) rs1455749393 0.00001
NM_005045.4(RELN):c.331G>A (p.Gly111Arg) rs760704088 0.00001
NM_005045.4(RELN):c.3412G>A (p.Gly1138Arg) rs772114071 0.00001
NM_005045.4(RELN):c.3527T>G (p.Phe1176Cys) rs755937551 0.00001
NM_005045.4(RELN):c.3540-20A>G rs1390416603 0.00001
NM_005045.4(RELN):c.356A>G (p.Gln119Arg) rs770981899 0.00001
NM_005045.4(RELN):c.3617G>A (p.Gly1206Glu) rs866737719 0.00001
NM_005045.4(RELN):c.3622G>A (p.Asp1208Asn) rs1230772547 0.00001
NM_005045.4(RELN):c.3638C>T (p.Ala1213Val) rs750474453 0.00001
NM_005045.4(RELN):c.3664G>A (p.Glu1222Lys) rs762404220 0.00001
NM_005045.4(RELN):c.3700A>G (p.Thr1234Ala) rs758305250 0.00001
NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser) rs750302438 0.00001
NM_005045.4(RELN):c.3789G>A (p.Met1263Ile) rs778006321 0.00001
NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu) rs794727441 0.00001
NM_005045.4(RELN):c.3809G>T (p.Cys1270Phe) rs1831475457 0.00001
NM_005045.4(RELN):c.3872G>A (p.Arg1291Gln) rs774998117 0.00001
NM_005045.4(RELN):c.3920T>C (p.Ile1307Thr) rs1372349812 0.00001
NM_005045.4(RELN):c.3980C>T (p.Ala1327Val) rs959509012 0.00001
NM_005045.4(RELN):c.4019C>T (p.Pro1340Leu) rs754927978 0.00001
NM_005045.4(RELN):c.4176C>A (p.Ser1392Arg) rs765007573 0.00001
NM_005045.4(RELN):c.4195C>G (p.Pro1399Ala) rs759880105 0.00001
NM_005045.4(RELN):c.4369A>C (p.Lys1457Gln) rs890007891 0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) rs202161592 0.00001
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met) rs369404310 0.00001
NM_005045.4(RELN):c.449C>T (p.Ala150Val) rs752566456 0.00001
NM_005045.4(RELN):c.4564A>T (p.Ile1522Phe) rs757322020 0.00001
NM_005045.4(RELN):c.4647G>C (p.Leu1549Phe) rs769890427 0.00001
NM_005045.4(RELN):c.4737A>G (p.Gln1579=) rs768948021 0.00001
NM_005045.4(RELN):c.4739C>T (p.Pro1580Leu) rs1488556290 0.00001
NM_005045.4(RELN):c.4840A>G (p.Ile1614Val) rs758157213 0.00001
NM_005045.4(RELN):c.4904T>G (p.Met1635Arg) rs779701633 0.00001
NM_005045.4(RELN):c.491G>A (p.Arg164Gln) rs1193525098 0.00001
NM_005045.4(RELN):c.4951G>T (p.Ala1651Ser) rs755003399 0.00001
NM_005045.4(RELN):c.5067C>A (p.Asn1689Lys) rs1030981974 0.00001
NM_005045.4(RELN):c.5075A>G (p.Lys1692Arg) rs1001125058 0.00001
NM_005045.4(RELN):c.5117T>C (p.Ile1706Thr) rs1156996317 0.00001
NM_005045.4(RELN):c.5135C>T (p.Thr1712Met) rs1056128260 0.00001
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu) rs886061856 0.00001
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp) rs757649565 0.00001
NM_005045.4(RELN):c.5227T>C (p.Phe1743Leu) rs773427684 0.00001
NM_005045.4(RELN):c.525G>C (p.Gln175His) rs369997646 0.00001
NM_005045.4(RELN):c.5371G>A (p.Gly1791Arg) rs1422208791 0.00001
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp) rs760957004 0.00001
NM_005045.4(RELN):c.5378A>G (p.Tyr1793Cys) rs775962499 0.00001
NM_005045.4(RELN):c.5390T>C (p.Val1797Ala) rs1462688546 0.00001
NM_005045.4(RELN):c.5489G>A (p.Gly1830Asp) rs1255854701 0.00001
NM_005045.4(RELN):c.5630C>A (p.Ser1877Tyr) rs1253194353 0.00001
NM_005045.4(RELN):c.568C>G (p.Pro190Ala) rs1200261994 0.00001
NM_005045.4(RELN):c.5717T>C (p.Ile1906Thr) rs772921952 0.00001
NM_005045.4(RELN):c.5744A>G (p.Tyr1915Cys) rs1373786748 0.00001
NM_005045.4(RELN):c.5747C>G (p.Thr1916Ser) rs1223552734 0.00001
NM_005045.4(RELN):c.5756C>A (p.Thr1919Asn) rs534336272 0.00001
NM_005045.4(RELN):c.578-20A>G rs370595753 0.00001
NM_005045.4(RELN):c.5932A>G (p.Ile1978Val) rs778268821 0.00001
NM_005045.4(RELN):c.5936G>A (p.Gly1979Asp) rs1383865192 0.00001
NM_005045.4(RELN):c.5942A>G (p.Tyr1981Cys) rs979289169 0.00001
NM_005045.4(RELN):c.5965G>A (p.Ala1989Thr) rs1233107226 0.00001
NM_005045.4(RELN):c.6072+4C>G rs369869975 0.00001
NM_005045.4(RELN):c.6107C>T (p.Ala2036Val) rs368438329 0.00001
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe) rs779142703 0.00001
NM_005045.4(RELN):c.6256G>A (p.Gly2086Ser) rs752958202 0.00001
NM_005045.4(RELN):c.6398A>C (p.Glu2133Ala) rs1349996046 0.00001
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr) rs1184255602 0.00001
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val) rs1830260428 0.00001
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly) rs754745320 0.00001
NM_005045.4(RELN):c.6597T>A (p.Ser2199Arg) rs1353952617 0.00001
NM_005045.4(RELN):c.6607C>A (p.Leu2203Ile) rs1296074586 0.00001
NM_005045.4(RELN):c.673T>G (p.Cys225Gly) rs371731772 0.00001
NM_005045.4(RELN):c.6827T>C (p.Ile2276Thr) rs748141276 0.00001
NM_005045.4(RELN):c.6869G>A (p.Arg2290His) rs1035646248 0.00001
NM_005045.4(RELN):c.6950T>C (p.Ile2317Thr) rs1469133138 0.00001
NM_005045.4(RELN):c.7014C>G (p.His2338Gln) rs1562879189 0.00001
NM_005045.4(RELN):c.7055A>T (p.Asp2352Val) rs143688278 0.00001
NM_005045.4(RELN):c.707A>G (p.His236Arg) rs771005621 0.00001
NM_005045.4(RELN):c.7093G>A (p.Val2365Met) rs756299161 0.00001
NM_005045.4(RELN):c.7108G>A (p.Val2370Ile) rs752238353 0.00001
NM_005045.4(RELN):c.7181C>T (p.Ala2394Val) rs762035577 0.00001
NM_005045.4(RELN):c.7254T>A (p.Asn2418Lys) rs1307372831 0.00001
NM_005045.4(RELN):c.7256T>G (p.Val2419Gly) rs777442978 0.00001
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys) rs1165686675 0.00001
NM_005045.4(RELN):c.737A>G (p.Tyr246Cys) rs779269833 0.00001
NM_005045.4(RELN):c.7489G>A (p.Val2497Ile) rs375694777 0.00001
NM_005045.4(RELN):c.7498G>C (p.Glu2500Gln) rs1554369707 0.00001
NM_005045.4(RELN):c.74C>T (p.Ala25Val) rs757957218 0.00001
NM_005045.4(RELN):c.7668+3G>T rs748053614 0.00001
NM_005045.4(RELN):c.7669G>A (p.Gly2557Ser) rs560581732 0.00001
NM_005045.4(RELN):c.7760C>A (p.Pro2587Gln) rs1455056584 0.00001
NM_005045.4(RELN):c.7768C>T (p.Arg2590Cys) rs1313455580 0.00001
NM_005045.4(RELN):c.7769G>A (p.Arg2590His) rs541813551 0.00001
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys) rs958494439 0.00001
NM_005045.4(RELN):c.7963A>G (p.Ile2655Val) rs1829536442 0.00001
NM_005045.4(RELN):c.8011C>G (p.Leu2671Val) rs761934008 0.00001
NM_005045.4(RELN):c.8038C>T (p.Pro2680Ser) rs777417208 0.00001
NM_005045.4(RELN):c.8095A>G (p.Met2699Val) rs747867154 0.00001
NM_005045.4(RELN):c.8182G>A (p.Gly2728Ser) rs1463489255 0.00001
NM_005045.4(RELN):c.8248A>C (p.Thr2750Pro) rs1168374024 0.00001
NM_005045.4(RELN):c.8269T>C (p.Phe2757Leu) rs560897786 0.00001
NM_005045.4(RELN):c.8347G>A (p.Gly2783Ser) rs794727997 0.00001
NM_005045.4(RELN):c.8363A>G (p.Tyr2788Cys) rs1259871212 0.00001
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr) rs774015567 0.00001
NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn) rs765919904 0.00001
NM_005045.4(RELN):c.8490-3T>C rs373564931 0.00001
NM_005045.4(RELN):c.8528T>C (p.Met2843Thr) rs1391842678 0.00001
NM_005045.4(RELN):c.8542G>A (p.Asp2848Asn) rs147624295 0.00001
NM_005045.4(RELN):c.8667+6G>C rs770342200 0.00001
NM_005045.4(RELN):c.8672T>C (p.Phe2891Ser) rs752516448 0.00001
NM_005045.4(RELN):c.8797A>G (p.Thr2933Ala) rs1172953100 0.00001
NM_005045.4(RELN):c.8884A>G (p.Met2962Val) rs772961648 0.00001
NM_005045.4(RELN):c.88T>A (p.Tyr30Asn) rs764175823 0.00001
NM_005045.4(RELN):c.9019C>T (p.Leu3007Phe) rs752135641 0.00001
NM_005045.4(RELN):c.9086A>G (p.Asn3029Ser) rs886044056 0.00001
NM_005045.4(RELN):c.9113G>A (p.Arg3038His) rs1828848847 0.00001
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys) rs774630932 0.00001
NM_005045.4(RELN):c.9350G>C (p.Gly3117Ala) rs376611357 0.00001
NM_005045.4(RELN):c.9369+6G>C rs770317549 0.00001
NM_005045.4(RELN):c.940T>C (p.Tyr314His) rs763000457 0.00001
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val) rs142638365 0.00001
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu) rs1442238479 0.00001
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys) rs376520049 0.00001
NM_005045.4(RELN):c.9832G>C (p.Val3278Leu) rs1381921892 0.00001
NM_005045.4(RELN):c.9838G>A (p.Glu3280Lys) rs1354755133 0.00001
NM_005097.4(LGI1):c.1040T>C (p.Val347Ala) rs1589775794 0.00001
NM_005097.4(LGI1):c.1060G>T (p.Ala354Ser) rs1438643979 0.00001
NM_005097.4(LGI1):c.1096G>A (p.Gly366Arg) rs1394822961 0.00001
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His) rs758203843 0.00001
NM_005097.4(LGI1):c.113C>G (p.Ala38Gly) rs768415373 0.00001
NM_005097.4(LGI1):c.1210A>T (p.Ser404Cys) rs1564853070 0.00001
NM_005097.4(LGI1):c.1240A>G (p.Asn414Asp) rs775893967 0.00001
NM_005097.4(LGI1):c.1254A>T (p.Gln418His) rs531444070 0.00001
NM_005097.4(LGI1):c.1267C>A (p.Gln423Lys) rs1337103614 0.00001
NM_005097.4(LGI1):c.1285A>G (p.Met429Val) rs147473519 0.00001
NM_005097.4(LGI1):c.1330G>A (p.Val444Met) rs772468388 0.00001
NM_005097.4(LGI1):c.1331T>A (p.Val444Glu) rs775901528 0.00001
NM_005097.4(LGI1):c.133G>A (p.Val45Met) rs755563423 0.00001
NM_005097.4(LGI1):c.1391C>T (p.Ser464Leu) rs747229730 0.00001
NM_005097.4(LGI1):c.158C>T (p.Ala53Val) rs778829709 0.00001
NM_005097.4(LGI1):c.269C>T (p.Thr90Met) rs796052692 0.00001
NM_005097.4(LGI1):c.287+3G>A rs1370527260 0.00001
NM_005097.4(LGI1):c.360A>G (p.Leu120=) rs773488211 0.00001
NM_005097.4(LGI1):c.432G>A (p.Leu144=) rs920223409 0.00001
NM_005097.4(LGI1):c.46C>G (p.Leu16Val) rs777973395 0.00001
NM_005097.4(LGI1):c.505G>A (p.Asp169Asn) rs1207210364 0.00001
NM_005097.4(LGI1):c.625C>T (p.Arg209Cys) rs751825973 0.00001
NM_005097.4(LGI1):c.647C>T (p.Ser216Leu) rs1318179573 0.00001
NM_005097.4(LGI1):c.651G>A (p.Lys217=) rs1292925776 0.00001
NM_005097.4(LGI1):c.673+5T>C rs1162193591 0.00001
NM_005097.4(LGI1):c.680C>T (p.Ala227Val) rs750984349 0.00001
NM_005097.4(LGI1):c.715A>G (p.Ile239Val) rs1234927321 0.00001
NM_005097.4(LGI1):c.757G>A (p.Ala253Thr) rs1440639718 0.00001
NM_005097.4(LGI1):c.836C>G (p.Thr279Arg) rs1159639109 0.00001
NM_005097.4(LGI1):c.887A>G (p.Tyr296Cys) rs1434032341 0.00001
NM_005097.4(LGI1):c.989G>A (p.Arg330Gln) rs745852819 0.00001
NM_005097.4(LGI1):c.998A>G (p.Asn333Ser) rs796052698 0.00001
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu) rs780194648 0.00001
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys) rs559054010 0.00001
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr) rs1010410881 0.00001
NM_005506.4(SCARB2):c.117+15G>T rs762251387 0.00001
NM_005506.4(SCARB2):c.118-3T>G rs755638994 0.00001
NM_005506.4(SCARB2):c.1187+2dup rs727502783 0.00001
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=) rs574498998 0.00001
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile) rs770343701 0.00001
NM_005506.4(SCARB2):c.1239+8C>G rs369265725 0.00001
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val) rs746370059 0.00001
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met) rs1035540343 0.00001
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val) rs376806999 0.00001
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile) rs1232863838 0.00001
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val) rs773957659 0.00001
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu) rs1350213956 0.00001
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro) rs757381866 0.00001
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs) rs1233094134 0.00001
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile) rs796052948 0.00001
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser) rs1191433680 0.00001
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser) rs1394046858 0.00001
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln) rs1422181706 0.00001
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu) rs1732696835 0.00001
NM_005506.4(SCARB2):c.350A>G (p.Tyr117Cys) rs754341111 0.00001
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala) rs776680365 0.00001
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val) rs772434203 0.00001
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys) rs760128942 0.00001
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys) rs1018285383 0.00001
NM_005506.4(SCARB2):c.612+5G>A rs1019363350 0.00001
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388 0.00001
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His) rs1732253776 0.00001
NM_005506.4(SCARB2):c.704+5G>A rs774271963 0.00001
NM_005506.4(SCARB2):c.705-7A>G rs1217073681 0.00001
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val) rs200332825 0.00001
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu) rs755176349 0.00001
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu) rs1241257632 0.00001
NM_005506.4(SCARB2):c.787G>C (p.Asp263His) rs759410840 0.00001
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp) rs1466314804 0.00001
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu) rs777478545 0.00001
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe) rs148780369 0.00001
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn) rs1367012950 0.00001
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val) rs796052422 0.00001
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993 0.00001
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val) rs563875151 0.00001
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys) rs796052425 0.00001
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu) rs1263035227 0.00001
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val) rs1284392729 0.00001
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg) rs1184012721 0.00001
NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu) rs1463000703 0.00001
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp) rs752244019 0.00001
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln) rs767203075 0.00001
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu) rs1239406349 0.00001
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val) rs1398721266 0.00001
NM_005670.4(EPM2A):c.301+4T>C rs761970395 0.00001
NM_005670.4(EPM2A):c.301+5T>C rs776655093 0.00001
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser) rs1448945231 0.00001
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583 0.00001
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817 0.00001
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys) rs757199020 0.00001
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala) rs773728573 0.00001
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala) rs144204777 0.00001
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe) rs1780893400 0.00001
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser) rs1310207444 0.00001
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val) rs753781421 0.00001
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val) rs147645370 0.00001
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys) rs371974399 0.00001
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627 0.00001
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622 0.00001
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692 0.00001
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys) rs186710183 0.00001
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val) rs754313309 0.00001
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp) rs1554269710 0.00001
NM_005670.4(EPM2A):c.719-2A>T rs772082648 0.00001
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys) rs765820100 0.00001
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val) rs1027738243 0.00001
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln) rs762852066 0.00001
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr) rs189479757 0.00001
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe) rs941854726 0.00001
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys) rs746413047 0.00001
NM_005670.4(EPM2A):c.974G>A (p.Arg325His) rs777308612 0.00001
NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln) rs1060502322 0.00001
NM_014467.3(SRPX2):c.1133T>C (p.Ile378Thr) rs1483904597 0.00001
NM_014467.3(SRPX2):c.1238G>A (p.Arg413His) rs761966457 0.00001
NM_014467.3(SRPX2):c.1255G>A (p.Val419Met) rs797046012 0.00001
NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln) rs761225832 0.00001
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) rs1354537844 0.00001
NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys) rs747055996 0.00001
NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr) rs746716311 0.00001
NM_014467.3(SRPX2):c.371C>T (p.Ala124Val) rs1277274875 0.00001
NM_014467.3(SRPX2):c.431G>A (p.Arg144His) rs758942073 0.00001
NM_014467.3(SRPX2):c.57G>A (p.Pro19=) rs192241917 0.00001
NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser) rs758845090 0.00001
NM_014467.3(SRPX2):c.742T>C (p.Tyr248His) rs1208754092 0.00001
NM_015973.5(GAL):c.13A>G (p.Ser5Gly) rs749996027 0.00001
NM_015973.5(GAL):c.178C>T (p.Leu60Phe) rs527905700 0.00001
NM_015973.5(GAL):c.191G>A (p.Arg64Gln) rs372372622 0.00001
NM_015973.5(GAL):c.263G>A (p.Arg88His) rs778530092 0.00001
NM_015973.5(GAL):c.28G>A (p.Ala10Thr) rs766211433 0.00001
NM_015973.5(GAL):c.337G>A (p.Ala113Thr) rs762637870 0.00001
NM_015973.5(GAL):c.340G>A (p.Ala114Thr) rs540782765 0.00001
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter) rs201118016 0.00001
NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln) rs769745156 0.00001
NM_018100.4(EFHC1):c.1098del (p.Ile367fs) rs1181131881 0.00001
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys) rs988250483 0.00001
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=) rs757987501 0.00001
NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln) rs535905126 0.00001
NM_018100.4(EFHC1):c.1182del (p.Gln395fs) rs753549012 0.00001
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys) rs748229072 0.00001
NM_018100.4(EFHC1):c.125G>A (p.Arg42His) rs773598517 0.00001
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs) rs752642262 0.00001
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile) rs753032457 0.00001
NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser) rs1562462191 0.00001
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp) rs373042342 0.00001
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser) rs201129694 0.00001
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys) rs186911667 0.00001
NM_018100.4(EFHC1):c.1492+1G>A rs191404037 0.00001
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) rs372520849 0.00001
NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr) rs763313820 0.00001
NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg) rs752066434 0.00001
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu) rs759944784 0.00001
NM_018100.4(EFHC1):c.1834G>C (p.Asp612His) rs1331948538 0.00001
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala) rs765750690 0.00001
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn) rs750083920 0.00001
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350 0.00001
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly) rs766220714 0.00001
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val) rs557599173 0.00001
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro) rs1451023675 0.00001
NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg) rs759050400 0.00001
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln) rs1277516532 0.00001
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944 0.00001
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781 0.00001
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850 0.00001
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe) rs147882603 0.00001
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser) rs201379297 0.00001
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter) rs776734177 0.00001
NM_018100.4(EFHC1):c.66A>G (p.Lys22=) rs1286302392 0.00001
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile) rs779993809 0.00001
NM_018100.4(EFHC1):c.693A>C (p.Gln231His) rs375014511 0.00001
NM_018100.4(EFHC1):c.723+10A>G rs754567679 0.00001
NM_018100.4(EFHC1):c.723G>A (p.Gln241=) rs750912328 0.00001
NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn) rs144739917 0.00001
NM_018100.4(EFHC1):c.762C>T (p.Ser254=) rs375851193 0.00001
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys) rs536323609 0.00001
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met) rs143655397 0.00001
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln) rs758695181 0.00001
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp) rs1172185919 0.00001
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys) rs17851771 0.00001
NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys) rs199814370 0.00001
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) rs201263733 0.00001
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala) rs144708524 0.00001
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys) rs1452409120 0.00001
NM_020822.3(KCNT1):c.1093C>T (p.Arg365Cys) rs751116785 0.00001
NM_020822.3(KCNT1):c.110+5A>G rs768926196 0.00001
NM_020822.3(KCNT1):c.1109C>T (p.Thr370Met) rs1284049151 0.00001
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021 0.00001
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) rs762752381 0.00001
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met) rs368174673 0.00001
NM_020822.3(KCNT1):c.1229C>T (p.Thr410Met) rs954342612 0.00001
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838 0.00001
NM_020822.3(KCNT1):c.1336A>C (p.Lys446Gln) rs144824627 0.00001
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser) rs1336529060 0.00001
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln) rs141311481 0.00001
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr) rs144956052 0.00001
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val) rs762875063 0.00001
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745 0.00001
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile) rs778483249 0.00001
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met) rs905524850 0.00001
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile) rs753874335 0.00001
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571 0.00001
NM_020822.3(KCNT1):c.1613G>A (p.Arg538His) rs748178951 0.00001
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser) rs1035980360 0.00001
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg) rs1446587740 0.00001
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser) rs1220099278 0.00001
NM_020822.3(KCNT1):c.1751C>T (p.Ala584Val) rs1423355423 0.00001
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg) rs1217094996 0.00001
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn) rs762247965 0.00001
NM_020822.3(KCNT1):c.181G>A (p.Val61Met) rs1337263243 0.00001
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser) rs1330106369 0.00001
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp) rs779639843 0.00001
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) rs1564314603 0.00001
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met) rs771481255 0.00001
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp) rs775458154 0.00001
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His) rs754634573 0.00001
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695 0.00001
NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser) rs1410497158 0.00001
NM_020822.3(KCNT1):c.2069G>A (p.Gly690Asp) rs777827895 0.00001
NM_020822.3(KCNT1):c.2075G>A (p.Gly692Asp) rs922840311 0.00001
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met) rs538197009 0.00001
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp) rs755348603 0.00001
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile) rs945869943 0.00001
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser) rs756112023 0.00001
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro) rs748537758 0.00001
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889 0.00001
NM_020822.3(KCNT1):c.2216C>T (p.Ser739Leu) rs1163455129 0.00001
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe) rs778897238 0.00001
NM_020822.3(KCNT1):c.2243+3G>A rs939389547 0.00001
NM_020822.3(KCNT1):c.2339G>A (p.Arg780Gln) rs780759196 0.00001
NM_020822.3(KCNT1):c.2349+4A>G rs745399878 0.00001
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr) rs1466772062 0.00001
NM_020822.3(KCNT1):c.2431G>A (p.Gly811Ser) rs748756591 0.00001
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val) rs1306134073 0.00001
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met) rs771284979 0.00001
NM_020822.3(KCNT1):c.247G>C (p.Asp83His) rs774085172 0.00001
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His) rs747191095 0.00001
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val) rs1476079719 0.00001
NM_020822.3(KCNT1):c.2671G>A (p.Ala891Thr) rs752835491 0.00001
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met) rs761134824 0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp) rs1249219901 0.00001
NM_020822.3(KCNT1):c.2729+4C>T rs1044688968 0.00001
NM_020822.3(KCNT1):c.2729+5G>A rs759836338 0.00001
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys) rs1049280147 0.00001
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile) rs776233220 0.00001
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210 0.00001
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403 0.00001
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys) rs1178947201 0.00001
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser) rs139397246 0.00001
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473 0.00001
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile) rs1216283172 0.00001
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met) rs1465054757 0.00001
NM_020822.3(KCNT1):c.2971A>G (p.Ile991Val) rs757503542 0.00001
NM_020822.3(KCNT1):c.2975C>T (p.Thr992Ile) rs1032036573 0.00001
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006 0.00001
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00001
NM_020822.3(KCNT1):c.3002C>T (p.Thr1001Met) rs372775166 0.00001
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu) rs763585049 0.00001
NM_020822.3(KCNT1):c.3027+1G>A rs756311140 0.00001
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=) rs371694148 0.00001
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn) rs779908455 0.00001
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg) rs1450164108 0.00001
NM_020822.3(KCNT1):c.3067G>A (p.Gly1023Ser) rs754128567 0.00001
NM_020822.3(KCNT1):c.3070C>T (p.Arg1024Cys) rs554853844 0.00001
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His) rs765283220 0.00001
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735 0.00001
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys) rs748937639 0.00001
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184 0.00001
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala) rs1554780631 0.00001
NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg) rs775548158 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp) rs1206215512 0.00001
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val) rs996610690 0.00001
NM_020822.3(KCNT1):c.3322A>G (p.Lys1108Glu) rs1358295612 0.00001
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His) rs1055618053 0.00001
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367 0.00001
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln) rs773520283 0.00001
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys) rs766557144 0.00001
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe) rs1177972273 0.00001
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln) rs750176430 0.00001
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp) rs1588309625 0.00001
NM_020822.3(KCNT1):c.347G>A (p.Arg116Gln) rs748873120 0.00001
NM_020822.3(KCNT1):c.3502+2dup rs1336283260 0.00001
NM_020822.3(KCNT1):c.3503-17G>A rs761613092 0.00001
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val) rs1834554393 0.00001
NM_020822.3(KCNT1):c.3517C>T (p.His1173Tyr) rs1450163574 0.00001
NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys) rs1292390745 0.00001
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile) rs1171803758 0.00001
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr) rs759561558 0.00001
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg) rs756986311 0.00001
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln) rs868847760 0.00001
NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu) rs779379200 0.00001
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090 0.00001
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316 0.00001
NM_020822.3(KCNT1):c.398G>A (p.Arg133His) rs201295824 0.00001
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) rs766663683 0.00001
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val) rs1831131534 0.00001
NM_020822.3(KCNT1):c.473C>T (p.Ser158Leu) rs751075368 0.00001
NM_020822.3(KCNT1):c.494C>T (p.Ala165Val) rs1359744304 0.00001
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys) rs1238224961 0.00001
NM_020822.3(KCNT1):c.547G>A (p.Val183Met) rs751729308 0.00001
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser) rs757371759 0.00001
NM_020822.3(KCNT1):c.566T>C (p.Leu189Pro) rs749194581 0.00001
NM_020822.3(KCNT1):c.600+5G>A rs770367654 0.00001
NM_020822.3(KCNT1):c.730C>T (p.Leu244=) rs376096546 0.00001
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu) rs755782470 0.00001
NM_020822.3(KCNT1):c.759+6C>T rs1057522462 0.00001
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191 0.00001
NM_020822.3(KCNT1):c.984G>C (p.Gln328His) rs1289554527 0.00001
NM_021267.5(CERS1):c.1030C>G (p.Leu344Val) rs1488082332 0.00001
NM_021267.5(CERS1):c.158C>T (p.Ala53Val) rs2056615240 0.00001
NM_021267.5(CERS1):c.23C>G (p.Ala8Gly) rs1568309719 0.00001
NM_021267.5(CERS1):c.244T>C (p.Phe82Leu) rs977068016 0.00001
NM_021267.5(CERS1):c.263G>A (p.Arg88Gln) rs370175943 0.00001
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn) rs748527035 0.00001
NM_021267.5(CERS1):c.408C>T (p.Tyr136=) rs779362030 0.00001
NM_021267.5(CERS1):c.410-6C>T rs932231463 0.00001
NM_021267.5(CERS1):c.436C>T (p.Arg146Trp) rs913223329 0.00001
NM_021267.5(CERS1):c.559C>G (p.Leu187Val) rs772627907 0.00001
NM_021267.5(CERS1):c.571G>A (p.Val191Ile) rs768421620 0.00001
NM_021267.5(CERS1):c.590+3A>T rs752762244 0.00001
NM_021267.5(CERS1):c.689G>C (p.Gly230Ala) rs755440386 0.00001
NM_021267.5(CERS1):c.68T>C (p.Val23Ala) rs1359065344 0.00001
NM_021267.5(CERS1):c.698A>G (p.His233Arg) rs2056172422 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu) rs759055660 0.00001
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg) rs1159373768 0.00001
NM_021267.5(CERS1):c.818G>A (p.Arg273His) rs775672669 0.00001
NM_021267.5(CERS1):c.830A>C (p.Asp277Ala) rs1283919339 0.00001
NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr) rs775383045 0.00001
NM_021267.5(CERS1):c.89C>T (p.Ala30Val) rs1045601115 0.00001
NM_021267.5(CERS1):c.974C>T (p.Thr325Ile) rs1696944643 0.00001
NM_032737.4(LMNB2):c.1035G>T (p.Glu345Asp) rs373940127 0.00001
NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln) rs767615829 0.00001
NM_032737.4(LMNB2):c.1202+5G>A rs753219694 0.00001
NM_032737.4(LMNB2):c.1240G>A (p.Val414Ile) rs771541316 0.00001
NM_032737.4(LMNB2):c.1253C>T (p.Thr418Ile) rs532971889 0.00001
NM_032737.4(LMNB2):c.1289G>A (p.Arg430His) rs555606326 0.00001
NM_032737.4(LMNB2):c.1297C>T (p.Arg433Cys) rs773783967 0.00001
NM_032737.4(LMNB2):c.1339A>G (p.Ser447Gly) rs1337959401 0.00001
NM_032737.4(LMNB2):c.1412C>T (p.Ser471Leu) rs761548544 0.00001
NM_032737.4(LMNB2):c.1434G>T (p.Glu478Asp) rs1317586350 0.00001
NM_032737.4(LMNB2):c.1465A>C (p.Lys489Gln) rs1399119743 0.00001
NM_032737.4(LMNB2):c.1475C>T (p.Ser492Leu) rs779868941 0.00001
NM_032737.4(LMNB2):c.147G>C (p.Glu49Asp) rs1302429423 0.00001
NM_032737.4(LMNB2):c.1481A>C (p.Lys494Thr) rs563268222 0.00001
NM_032737.4(LMNB2):c.1515G>T (p.Arg505Ser) rs1971753890 0.00001
NM_032737.4(LMNB2):c.1528G>C (p.Gly510Arg) rs779010033 0.00001
NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys) rs201055797 0.00001
NM_032737.4(LMNB2):c.1571G>A (p.Arg524His) rs953502420 0.00001
NM_032737.4(LMNB2):c.1597G>A (p.Ala533Thr) rs779286652 0.00001
NM_032737.4(LMNB2):c.1777G>C (p.Glu593Gln) rs375038177 0.00001
NM_032737.4(LMNB2):c.23G>A (p.Arg8His) rs942561547 0.00001
NM_032737.4(LMNB2):c.26G>A (p.Arg9His) rs1972098298 0.00001
NM_032737.4(LMNB2):c.29G>C (p.Arg10Pro) rs984068789 0.00001
NM_032737.4(LMNB2):c.340C>T (p.Arg114Cys) rs375451196 0.00001
NM_032737.4(LMNB2):c.344C>G (p.Ala115Gly) rs1474895568 0.00001
NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln) rs370820384 0.00001
NM_032737.4(LMNB2):c.388G>A (p.Glu130Lys) rs755832231 0.00001
NM_032737.4(LMNB2):c.442C>T (p.Arg148Cys) rs369668021 0.00001
NM_032737.4(LMNB2):c.454C>A (p.Leu152Met) rs1158079562 0.00001
NM_032737.4(LMNB2):c.472C>T (p.Arg158Trp) rs1410022707 0.00001
NM_032737.4(LMNB2):c.473G>A (p.Arg158Gln) rs375613243 0.00001
NM_032737.4(LMNB2):c.541C>T (p.Arg181Trp) rs1204917895 0.00001
NM_032737.4(LMNB2):c.557A>T (p.Lys186Met) rs1331367506 0.00001
NM_032737.4(LMNB2):c.575C>T (p.Ala192Val) rs1389587109 0.00001
NM_032737.4(LMNB2):c.596A>G (p.Glu199Gly) rs146647837 0.00001
NM_032737.4(LMNB2):c.614G>A (p.Arg205His) rs767067963 0.00001
NM_032737.4(LMNB2):c.632G>T (p.Arg211Leu) rs765666579 0.00001
NM_032737.4(LMNB2):c.665G>A (p.Arg222Gln) rs747514243 0.00001
NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp) rs760267703 0.00001
NM_032737.4(LMNB2):c.743G>A (p.Arg248Gln) rs201250275 0.00001
NM_032737.4(LMNB2):c.842C>T (p.Thr281Ile) rs1211211815 0.00001
NM_032737.4(LMNB2):c.855+15C>T rs371996134 0.00001
NM_032737.4(LMNB2):c.889G>A (p.Asp297Asn) rs776112679 0.00001
NM_032737.4(LMNB2):c.896C>T (p.Ala299Val) rs764892106 0.00001
NM_032737.4(LMNB2):c.940C>A (p.Leu314Met) rs1971799683 0.00001
NM_032737.4(LMNB2):c.965C>T (p.Ser322Phe) rs760403121 0.00001
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu) rs1328763941 0.00001
NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp) rs759164554 0.00001
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln) rs577174749 0.00001
NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu) rs1454994864 0.00001
NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly) rs747305137 0.00001
NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln) rs1254082305 0.00001
NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly) rs1466958238 0.00001
NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp) rs1938024539 0.00001
NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly) rs367941464 0.00001
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) rs774422189 0.00001
NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser) rs758787019 0.00001
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296 0.00001
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu) rs776727562 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys) rs751326939 0.00001
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626 0.00001
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val) rs552840971 0.00001
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983 0.00001
NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg) rs547914367 0.00001
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg) rs768870075 0.00001
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg) rs201054946 0.00001
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr) rs796052932 0.00001
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) rs1265886356 0.00001
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064 0.00001
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) rs1437950772 0.00001
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser) rs1361111517 0.00001
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953 0.00001
NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys) rs1938269718 0.00001
NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His) rs1232951000 0.00001
NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser) rs139937830 0.00001
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) rs374621616 0.00001
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val) rs1194478107 0.00001
NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro) rs748173327 0.00001
NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His) rs1233536174 0.00001
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His) rs189093086 0.00001
NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly) rs1937758569 0.00001
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp) rs746199700 0.00001
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln) rs779059953 0.00001
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265 0.00001
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys) rs567656128 0.00001
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln) rs1323129125 0.00001
NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly) rs778196919 0.00001
NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn) rs146670726 0.00001
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp) rs765199745 0.00001
NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His) rs796052934 0.00001
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr) rs780823369 0.00001
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088 0.00001
NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu) rs1304426627 0.00001
NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val) rs1371533275 0.00001
NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln) rs766439768 0.00001
NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala) rs201983132 0.00001
NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro) rs755590703 0.00001
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr) rs961991320 0.00001
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) rs200558941 0.00001
NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe) rs758143303 0.00001
NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser) rs1258793726 0.00001
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met) rs751791144 0.00001
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met) rs777277493 0.00001
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro) rs771838146 0.00001
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn) rs1300341380 0.00001
NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys) rs1486749442 0.00001
NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr) rs1178731670 0.00001
NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro) rs1469737110 0.00001
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148 0.00001
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017 0.00001
NM_153026.3(PRICKLE1):c.739T>C (p.Tyr247His) rs780974681 0.00001
NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met) rs1199665357 0.00001
NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp) rs1361958779 0.00001
NM_153033.5(KCTD7):c.107C>T (p.Thr36Met) rs773209854 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NM_153033.5(KCTD7):c.141G>C (p.Gln47His) rs753563583 0.00001
NM_153033.5(KCTD7):c.144+4C>G rs757018925 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr) rs368018261 0.00001
NM_153033.5(KCTD7):c.182A>G (p.His61Arg) rs529063727 0.00001
NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln) rs749483829 0.00001
NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys) rs1308286439 0.00001
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr) rs202167686 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.257A>G (p.Tyr86Cys) rs188483031 0.00001
NM_153033.5(KCTD7):c.259A>G (p.Ile87Val) rs1182254636 0.00001
NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys) rs780710316 0.00001
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln) rs984651812 0.00001
NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys) rs769991459 0.00001
NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro) rs763423181 0.00001
NM_153033.5(KCTD7):c.380A>G (p.Lys127Arg) rs765083971 0.00001
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg) rs781725855 0.00001
NM_153033.5(KCTD7):c.422_424dup (p.Leu141_Glu142insVal) rs747385800 0.00001
NM_153033.5(KCTD7):c.444G>T (p.Lys148Asn) rs746540809 0.00001
NM_153033.5(KCTD7):c.447C>T (p.Gly149=) rs767984903 0.00001
NM_153033.5(KCTD7):c.494-3T>C rs1786646567 0.00001
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln) rs758709078 0.00001
NM_153033.5(KCTD7):c.530G>A (p.Arg177His) rs1469857830 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153033.5(KCTD7):c.542G>A (p.Arg181Gln) rs754654827 0.00001
NM_153033.5(KCTD7):c.602C>G (p.Pro201Arg) rs774050685 0.00001
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala) rs753471689 0.00001
NM_153033.5(KCTD7):c.623A>G (p.Asn208Ser) rs762356641 0.00001
NM_153033.5(KCTD7):c.632G>T (p.Arg211Leu) rs376332394 0.00001
NM_153033.5(KCTD7):c.640C>T (p.Arg214Trp) rs755711171 0.00001
NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln) rs1362697719 0.00001
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val) rs745360140 0.00001
NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu) rs890695139 0.00001
NM_178013.4(PRIMA1):c.11G>A (p.Arg4Gln) rs924313155 0.00001
NM_178013.4(PRIMA1):c.13G>A (p.Asp5Asn) rs1457017587 0.00001
NM_178013.4(PRIMA1):c.236A>G (p.Asn79Ser) rs1000407112 0.00001
NM_178013.4(PRIMA1):c.272C>G (p.Ser91Trp) rs1461678706 0.00001
NM_178013.4(PRIMA1):c.341G>A (p.Cys114Tyr) rs1244257411 0.00001
NM_178013.4(PRIMA1):c.364C>T (p.Pro122Ser) rs1434626074 0.00001
NM_178013.4(PRIMA1):c.379G>A (p.Glu127Lys) rs141491542 0.00001
NM_178013.4(PRIMA1):c.394G>A (p.Val132Ile) rs761493685 0.00001
NM_178013.4(PRIMA1):c.426C>G (p.Ser142Arg) rs370561739 0.00001
NM_178013.4(PRIMA1):c.451G>A (p.Ala151Thr) rs200782279 0.00001
NM_178013.4(PRIMA1):c.455T>C (p.Val152Ala) rs1363990084 0.00001
NM_178013.4(PRIMA1):c.8T>C (p.Leu3Pro) rs1365665298 0.00001
NM_178013.4(PRIMA1):c.94-10A>G rs1885316450 0.00001
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858 0.00001
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116 0.00001
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu) rs1440601226 0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582 0.00001
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val) rs778364234 0.00001
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe) rs541460675 0.00001
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp) rs562100142 0.00001
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln) rs1280991443 0.00001
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg) rs1174745955 0.00001
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096 0.00001
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser) rs909097062 0.00001
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser) rs1467326281 0.00001
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn) rs1085307861 0.00001
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn) rs1294825458 0.00001
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg) rs1783749311 0.00001
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405 0.00001
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile) rs1233490914 0.00001
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser) rs368134036 0.00001
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln) rs771805307 0.00001
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly) rs367649330 0.00001
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala) rs746239356 0.00001
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu) rs963295265 0.00001
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu) rs201058506 0.00001
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp) rs1449381352 0.00001
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys) rs747276703 0.00001
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) rs371072212 0.00001
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg) rs377025668 0.00001
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro) rs879745047 0.00001
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His) rs749287999 0.00001
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg) rs796052756 0.00001
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala) rs755474952 0.00001
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val) rs1281512045 0.00001
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser) rs752220824 0.00001
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr) rs776454075 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu) rs1164039510 0.00001
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser) rs757311213 0.00001
NM_198904.4(GABRG2):c.1171C>T (p.Arg391Cys) rs768576864 0.00001
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser) rs770952397 0.00001
NM_198904.4(GABRG2):c.1202A>T (p.Asn401Ile) rs778999273 0.00001
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile) rs1765495907 0.00001
NM_198904.4(GABRG2):c.1273T>G (p.Phe425Val) rs780991820 0.00001
NM_198904.4(GABRG2):c.1298G>A (p.Arg433Gln) rs774474550 0.00001
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His) rs587780341 0.00001
NM_198904.4(GABRG2):c.173C>A (p.Thr58Asn) rs763218917 0.00001
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp) rs1408343754 0.00001
NM_198904.4(GABRG2):c.359C>T (p.Thr120Met) rs1194128280 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile) rs796052502 0.00001
NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr) rs770364855 0.00001
NM_198904.4(GABRG2):c.644G>A (p.Arg215His) rs1561645172 0.00001
NM_198904.4(GABRG2):c.683A>C (p.Glu228Ala) rs903838076 0.00001
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe) rs768061156 0.00001
NC_000003.11:g.(?_11058898)_(11078652_?)dup
NC_000003.11:g.(?_11075305)_(11078652_?)dup
NC_000003.11:g.(?_167402096)_(167543111_?)dup
NC_000003.12:g.(?_11025429)_(11036986_?)dup
NC_000003.12:g.(?_167684288)_(167825343_?)dup
NC_000003.12:g.(?_167822966)_(167825343_?)del
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77082866)_(77102264_?)del
NC_000004.11:g.(?_77082866)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134696_?)dup
NC_000004.11:g.(?_77116840)_(77134716_?)dup
NC_000004.11:g.(?_77116850)_(77134696_?)dup
NC_000004.11:g.(?_80828583)_(81124686_?)del
NC_000004.11:g.(?_81121235)_(81124686_?)dup
NC_000005.9:g.(?_161528235)_(161580379_?)dup
NC_000005.9:g.(?_161528241)_(161582545_?)dup
NC_000006.11:g.(?_52329683)_(52334281_?)del
NC_000006.12:g.(?_52423789)_(52492432_?)del
NC_000006.12:g.(?_52479017)_(52492432_?)del
NC_000007.13:g.(?_102937907)_(103151472_?)dup
NC_000007.13:g.(?_66094032)_(66105401_?)dup
NC_000007.13:g.(?_66094052)_(66094215_?)dup
NC_000007.13:g.(?_66094052)_(66103438_?)dup
NC_000008.10:g.(?_27319126)_(27328595_?)dup
NC_000008.10:g.(?_27319146)_(28608383_?)dup
NC_000008.10:g.(?_27326832)_(27328595_?)del
NC_000008.11:g.(?_27469335)_(27471194_?)del
NC_000009.11:g.(?_129376729)_(131016993_?)del
NC_000009.11:g.(?_130928476)_(131004634_?)dup
NC_000009.11:g.(?_130965750)_(131016993_?)dup
NC_000009.11:g.(?_135139626)_(140034216_?)dup
NC_000009.11:g.(?_138392557)_(141016451_?)del
NC_000009.11:g.(?_138585443)_(138606586_?)dup
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138594085)_(139440258_?)dup
NC_000009.11:g.(?_138594085)_(140062314_?)dup
NC_000009.11:g.(?_138606403)_(138606586_?)dup
NC_000009.11:g.(?_138641924)_(138649247_?)del
NC_000009.11:g.(?_138645763)_(140729425_?)del
NC_000009.11:g.(?_138651496)_(138651725_?)dup
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NC_000009.12:g.(?_128234001)_(128234127_?)del
NC_000009.12:g.(?_128242212)_(128247506_?)del
NC_000009.12:g.(?_135769927)_(135792181_?)dup
NC_000009.12:g.(?_135775290)_(135788182_?)del
NC_000009.12:g.(?_135786177)_(135792181_?)del
NC_000010.10:g.(?_78844375)_(78846371_?)del
NC_000010.10:g.(?_79396125)_(79397420_?)dup
NC_000010.10:g.(?_79397003)_(79603484_?)dup
NC_000010.10:g.(?_95549836)_(95557560_?)dup
NC_000011.10:g.(?_17735983)_(17781754_?)dup
NC_000011.10:g.(?_68684904)_(68691007_?)dup
NC_000011.9:g.(?_17552691)_(19213995_?)dup
NC_000011.9:g.(?_17757550)_(17758139_?)dup
NC_000011.9:g.(?_68453042)_(68453136_?)del
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NC_000012.11:g.(?_42853611)_(42854487_?)dup
NC_000012.11:g.(?_42853611)_(42866318_?)del
NC_000012.11:g.(?_42853611)_(42866318_?)dup
NC_000012.11:g.(?_42862785)_(42864169_?)del
NC_000014.8:g.(?_94187790)_(94187912_?)del
NC_000015.9:g.(?_93444468)_(93583743_?)dup
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NC_000015.9:g.(?_93510535)_(93567935_?)dup
NC_000015.9:g.(?_93522345)_(93567935_?)dup
NC_000016.10:g.(?_86685)_(86890_?)del
NC_000016.10:g.(?_86685)_(86890_?)dup
NC_000016.10:g.(?_9763129)_(10180431_?)dup
NC_000016.10:g.(?_9890966)_(9938571_?)dup
NC_000016.9:g.(?_10273835)_(10274288_?)dup
NC_000016.9:g.(?_136684)_(139920_?)dup
NC_000016.9:g.(?_136684)_(143343_?)del
NC_000016.9:g.(?_136684)_(160624_?)dup
NC_000016.9:g.(?_136684)_(188286_?)dup
NC_000016.9:g.(?_136704)_(136889_?)del
NC_000016.9:g.(?_136704)_(139920_?)dup
NC_000016.9:g.(?_148123)_(167394_?)dup
NC_000016.9:g.(?_148123)_(188266_?)dup
NC_000016.9:g.(?_148123)_(193701_?)dup
NC_000016.9:g.(?_148291)_(178264_?)dup
NC_000016.9:g.(?_150350)_(150527_?)dup
NC_000016.9:g.(?_150350)_(169274_?)dup
NC_000016.9:g.(?_150360)_(150517_?)dup
NC_000016.9:g.(?_150360)_(169264_?)dup
NC_000016.9:g.(?_160503)_(169274_?)del
NC_000016.9:g.(?_160503)_(169274_?)dup
NC_000016.9:g.(?_160503)_(188266_?)dup
NC_000016.9:g.(?_160503)_(188286_?)dup
NC_000016.9:g.(?_160503)_(193701_?)dup
NC_000016.9:g.(?_160513)_(188266_?)dup
NC_000016.9:g.(?_162601)_(188266_?)dup
NC_000016.9:g.(?_167280)_(188286_?)dup
NC_000016.9:g.(?_167280)_(193701_?)dup
NC_000016.9:g.(?_180501)_(188266_?)dup
NC_000016.9:g.(?_180501)_(188286_?)dup
NC_000016.9:g.(?_180501)_(193701_?)dup
NC_000016.9:g.(?_188129)_(188286_?)dup
NC_000016.9:g.(?_8829577)_(10274288_?)dup
NC_000016.9:g.(?_8829597)_(11683693_?)dup
NC_000016.9:g.(?_9984823)_(10032428_?)del
NC_000017.10:g.(?_44845686)_(45016126_?)dup
NC_000017.10:g.(?_45000559)_(45016126_?)dup
NC_000019.10:g.(?_2456650)_(2456953_?)dup
NC_000019.9:g.(?_1456055)_(2456931_?)dup
NC_000019.9:g.(?_18893725)_(19312528_?)del
NC_000019.9:g.(?_19004205)_(19006901_?)dup
NC_000020.10:g.(?_61448417)_(62124660_?)del
NC_000020.10:g.(?_61977556)_(62044954_?)del
NC_000020.10:g.(?_61977556)_(62046499_?)del
NC_000020.10:g.(?_61977556)_(62065276_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)dup
NC_000020.10:g.(?_61977556)_(62562941_?)dup
NC_000020.10:g.(?_61987307)_(61992517_?)del
NC_000020.10:g.(?_61987307)_(61992517_?)dup
NC_000020.10:g.(?_61987307)_(61993206_?)del
NC_000020.10:g.(?_61987717)_(62038734_?)del
NC_000020.10:g.(?_61990880)_(62078210_?)dup
NC_000020.10:g.(?_61992422)_(62038748_?)del
NC_000020.11:g.(?_63346204)_(63361854_?)dup
NC_000020.11:g.(?_63355955)_(63356104_?)del
NC_000021.8:g.(?_44838120)_(45629566_?)dup
NC_000021.8:g.(?_44838130)_(45196150_?)dup
NC_000021.8:g.(?_45194063)_(45196170_?)dup
NC_000021.9:g.(?_43772665)_(43777375_?)dup
NC_000022.10:g.(?_32150888)_(32154639_?)dup
NC_000022.10:g.(?_32150888)_(32164869_?)dup
NC_000022.10:g.(?_32150908)_(32154639_?)dup
NC_000022.10:g.(?_32150908)_(32302483_?)dup
NC_000022.10:g.(?_32154522)_(32156698_?)del
NC_000022.10:g.(?_32162551)_(32162674_?)del
NC_000022.10:g.(?_32193566)_(32200921_?)del
NC_000022.10:g.(?_32198670)_(32198844_?)dup
NC_000022.10:g.(?_32253411)_(32302503_?)dup
NC_000022.10:g.(?_32289548)_(32302483_?)dup
NC_000022.10:g.(?_32297708)_(32302483_?)dup
NC_000022.10:g.(?_32297708)_(32302503_?)dup
NC_000022.11:g.(?_31798562)_(31798676_?)del
NC_000022.11:g.(?_31893562)_(31897673_?)del
NC_000023.10:g.(?_99917153)_(100662891_?)dup
NC_000023.11:g.(?_100644166)_(100671299_?)del
NC_000023.11:g.(?_100646303)_(100671007_?)dup
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu) rs2084002121
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser) rs748162136
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr) rs1365612504
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
NM_000100.4(CSTB):c.139G>C (p.Val47Leu) rs140799752
NM_000100.4(CSTB):c.140T>G (p.Val47Gly) rs2084001744
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu) rs754421704
NM_000100.4(CSTB):c.168+5A>G
NM_000100.4(CSTB):c.168+6G>C
NM_000100.4(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.4(CSTB):c.172C>T (p.His58Tyr) rs2083999686
NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.4(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.4(CSTB):c.193G>C (p.Val65Leu) rs570768038
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro) rs796052392
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln) rs2083999131
NM_000100.4(CSTB):c.251_254del (p.Asn84fs) rs1555888363
NM_000100.4(CSTB):c.26C>A (p.Thr9Lys) rs778785343
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg) rs2083998796
NM_000100.4(CSTB):c.31C>T (p.Pro11Ser) rs2084009509
NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)
NM_000100.4(CSTB):c.47C>T (p.Thr16Ile) rs2084009370
NM_000100.4(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_000100.4(CSTB):c.66+3G>C
NM_000100.4(CSTB):c.96_98del (p.Asn32del) rs750620672
NM_000100.4(CSTB):c.9C>G (p.Cys3Trp) rs555930471
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser) rs1586390027
NM_000742.4(CHRNA2):c.1037C>T (p.Thr346Ile)
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile) rs1057524196
NM_000742.4(CHRNA2):c.1045G>A (p.Val349Met) rs774279507
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu) rs774279507
NM_000742.4(CHRNA2):c.1052A>C (p.Asn351Thr) rs770305730
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly) rs56339365
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys) rs56339365
NM_000742.4(CHRNA2):c.106del (p.Ala36fs)
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu) rs1586389806
NM_000742.4(CHRNA2):c.1082C>T (p.Thr361Ile)
NM_000742.4(CHRNA2):c.1093T>C (p.Trp365Arg)
NM_000742.4(CHRNA2):c.1094G>A (p.Trp365Ter) rs2132651723
NM_000742.4(CHRNA2):c.1105G>A (p.Ala369Thr)
NM_000742.4(CHRNA2):c.1105del (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu) rs1812571543
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)
NM_000742.4(CHRNA2):c.1138_1145dup (p.Arg382_Pro383insTer)
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu) rs796052302
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs) rs1812569409
NM_000742.4(CHRNA2):c.1156C>T (p.Pro386Ser) rs2132651430
NM_000742.4(CHRNA2):c.1174C>G (p.Pro392Ala) rs762406891
NM_000742.4(CHRNA2):c.1175C>G (p.Pro392Arg)
NM_000742.4(CHRNA2):c.1178T>C (p.Leu393Pro) rs2132651312
NM_000742.4(CHRNA2):c.1217G>C (p.Ser406Thr)
NM_000742.4(CHRNA2):c.121del (p.Leu41fs) rs796052310
NM_000742.4(CHRNA2):c.1222G>A (p.Val408Met) rs771994243
NM_000742.4(CHRNA2):c.1229C>T (p.Ala410Val)
NM_000742.4(CHRNA2):c.1240G>A (p.Glu414Lys) rs968676056
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs) rs1360369489
NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met)
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys) rs1812560444
NM_000742.4(CHRNA2):c.1259del (p.Glu420fs)
NM_000742.4(CHRNA2):c.1260_1261delinsAC (p.Asp421His)
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly) rs1064795452
NM_000742.4(CHRNA2):c.1266A>T (p.Arg422Ser) rs2132650884
NM_000742.4(CHRNA2):c.1267T>C (p.Trp423Arg)
NM_000742.4(CHRNA2):c.1273T>A (p.Cys425Ser)
NM_000742.4(CHRNA2):c.1273T>C (p.Cys425Arg) rs1179640861
NM_000742.4(CHRNA2):c.1275T>G (p.Cys425Trp)
NM_000742.4(CHRNA2):c.1277C>T (p.Ala426Val) rs138721954
NM_000742.4(CHRNA2):c.1318G>C (p.Gly440Arg)
NM_000742.4(CHRNA2):c.131C>G (p.Pro44Arg)
NM_000742.4(CHRNA2):c.1345C>T (p.Pro449Ser)
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter) rs778197366
NM_000742.4(CHRNA2):c.1366C>G (p.Gln456Glu)
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met) rs765948265
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val) rs765948265
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu) rs748345482
NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp) rs772765800
NM_000742.4(CHRNA2):c.1412A>G (p.Glu471Gly) rs963988264
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp) rs1165713402
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu) rs796052304
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val) rs796052304
NM_000742.4(CHRNA2):c.1447G>A (p.Glu483Lys) rs755338508
NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys)
NM_000742.4(CHRNA2):c.1464+4C>T rs1586388485
NM_000742.4(CHRNA2):c.1464+5G>T rs758065946
NM_000742.4(CHRNA2):c.1465-1G>A rs1812498557
NM_000742.4(CHRNA2):c.1465-21_1465-20inv
NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del)
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del) rs760166123
NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn) rs759930402
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu) rs796052306
NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg)
NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe)
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln) rs1812493442
NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro) rs1812493442
NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu) rs1563315936
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe) rs1586386548
NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser) rs2132646191
NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg)
NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr) rs1812490479
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg) rs1812820756
NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser)
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
NM_000742.4(CHRNA2):c.178G>T (p.Asp60Tyr) rs759538013
NM_000742.4(CHRNA2):c.181C>T (p.Arg61Trp)
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe) rs903870658
NM_000742.4(CHRNA2):c.193C>A (p.His65Asn) rs200035862
NM_000742.4(CHRNA2):c.195C>G (p.His65Gln)
NM_000742.4(CHRNA2):c.197T>C (p.Leu66Pro)
NM_000742.4(CHRNA2):c.203G>T (p.Arg68Leu) rs548268816
NM_000742.4(CHRNA2):c.209A>G (p.Tyr70Cys) rs1812818035
NM_000742.4(CHRNA2):c.221C>A (p.Ala74Glu)
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val) rs759595350
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His) rs762847144
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg) rs199810678
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile) rs1812864886
NM_000742.4(CHRNA2):c.235A>G (p.Asn79Asp) rs1812814993
NM_000742.4(CHRNA2):c.239C>T (p.Thr80Ile) rs1812814759
NM_000742.4(CHRNA2):c.24C>G (p.Phe8Leu)
NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu)
NM_000742.4(CHRNA2):c.265G>A (p.Gly89Arg)
NM_000742.4(CHRNA2):c.269T>C (p.Leu90Pro)
NM_000742.4(CHRNA2):c.277G>C (p.Ala93Pro)
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe) rs149615415
NM_000742.4(CHRNA2):c.294+1G>A rs1064795899
NM_000742.4(CHRNA2):c.294+2T>C
NM_000742.4(CHRNA2):c.295-18T>A rs2132666061
NM_000742.4(CHRNA2):c.295-6G>A rs2132665999
NM_000742.4(CHRNA2):c.295-7G>A rs1812797993
NM_000742.4(CHRNA2):c.298G>A (p.Glu100Lys)
NM_000742.4(CHRNA2):c.29C>A (p.Ser10Tyr)
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln) rs1554515367
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser) rs2132665924
NM_000742.4(CHRNA2):c.328T>A (p.Trp110Arg)
NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro)
NM_000742.4(CHRNA2):c.339+5G>C
NM_000742.4(CHRNA2):c.35C>T (p.Thr12Ile)
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser) rs746274421
NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)
NM_000742.4(CHRNA2):c.362G>A (p.Arg121His)
NM_000742.4(CHRNA2):c.364T>C (p.Trp122Arg)
NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr)
NM_000742.4(CHRNA2):c.373del (p.Thr125fs)
NM_000742.4(CHRNA2):c.376G>T (p.Asp126Tyr)
NM_000742.4(CHRNA2):c.380T>G (p.Phe127Cys) rs777304017
NM_000742.4(CHRNA2):c.392C>T (p.Thr131Ile)
NM_000742.4(CHRNA2):c.403del (p.Val135fs) rs777391476
NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs)
NM_000742.4(CHRNA2):c.428C>A (p.Pro143His)
NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala)
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.450-1G>T
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu) rs1812618871
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg) rs1812618288
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs) rs1563319139
NM_000742.4(CHRNA2):c.502A>T (p.Thr168Ser)
NM_000742.4(CHRNA2):c.515A>G (p.His172Arg) rs1812615728
NM_000742.4(CHRNA2):c.523C>A (p.Pro175Thr)
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln) rs769273715
NM_000742.4(CHRNA2):c.527C>T (p.Pro176Leu) rs769273715
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter) rs192887571
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn) rs201551533
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg) rs768575325
NM_000742.4(CHRNA2):c.549C>A (p.Cys183Ter) rs1563319049
NM_000742.4(CHRNA2):c.551G>T (p.Ser184Ile)
NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn)
NM_000742.4(CHRNA2):c.563C>A (p.Thr188Asn)
NM_000742.4(CHRNA2):c.56T>C (p.Leu19Pro) rs1812863482
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
NM_000742.4(CHRNA2):c.579C>A (p.Asp193Glu) rs2132654151
NM_000742.4(CHRNA2):c.584A>C (p.Gln195Pro) rs2132654123
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg) rs1554514597
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe) rs796052299
NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs)
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs) rs1812608825
NM_000742.4(CHRNA2):c.625G>A (p.Ala209Thr)
NM_000742.4(CHRNA2):c.644A>G (p.Gln215Arg)
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
NM_000742.4(CHRNA2):c.653A>G (p.Gln218Arg) rs377660408
NM_000742.4(CHRNA2):c.655A>G (p.Thr219Ala) rs1428288320
NM_000742.4(CHRNA2):c.662A>G (p.Asp221Gly)
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
NM_000742.4(CHRNA2):c.686_694del (p.Gly229_Trp231del)
NM_000742.4(CHRNA2):c.73+4A>C rs1307812125
NM_000742.4(CHRNA2):c.74-6T>C
NM_000742.4(CHRNA2):c.74-6T>G
NM_000742.4(CHRNA2):c.740G>A (p.Cys247Tyr) rs1812601639
NM_000742.4(CHRNA2):c.748G>A (p.Glu250Lys) rs1262745996
NM_000742.4(CHRNA2):c.74G>C (p.Gly25Ala)
NM_000742.4(CHRNA2):c.763del (p.Val255fs) rs2132653296
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile) rs1586390822
NM_000742.4(CHRNA2):c.784del (p.Arg262fs) rs1332347946
NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro)
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile) rs1554514530
NM_000742.4(CHRNA2):c.809T>C (p.Ile270Thr) rs2132653089
NM_000742.4(CHRNA2):c.822C>G (p.Ile274Met)
NM_000742.4(CHRNA2):c.844C>T (p.Leu282Phe)
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser) rs1060503073
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del) rs796052309
NM_000742.4(CHRNA2):c.907G>A (p.Val303Met)
NM_000742.4(CHRNA2):c.912_913delinsAA (p.Leu305Met) rs2132652617
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro) rs1233767222
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys) rs1563318247
NM_000742.4(CHRNA2):c.92G>A (p.Arg31His)
NM_000742.4(CHRNA2):c.948G>C (p.Glu316Asp) rs1812587015
NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn)
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg) rs750130500
NM_000742.4(CHRNA2):c.956C>T (p.Pro319Leu) rs750130500
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
NM_000742.4(CHRNA2):c.986G>C (p.Gly329Ala)
NM_000742.4(CHRNA2):c.993C>A (p.Tyr331Ter)
NM_000744.7(CHRNA4):c.1003C>T (p.Pro335Ser)
NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)
NM_000744.7(CHRNA4):c.1030dup (p.Val344fs) rs1299258914
NM_000744.7(CHRNA4):c.1033C>G (p.Arg345Gly)
NM_000744.7(CHRNA4):c.1034G>A (p.Arg345His)
NM_000744.7(CHRNA4):c.1051A>G (p.Ile351Val)
NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe) rs121912265
NM_000744.7(CHRNA4):c.1069C>T (p.Leu357Phe) rs1215991666
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu) rs1555837732
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter) rs1555837732
NM_000744.7(CHRNA4):c.1076A>C (p.Lys359Thr)
NM_000744.7(CHRNA4):c.1078C>T (p.Arg360Trp) rs759167480
NM_000744.7(CHRNA4):c.107C>A (p.Ala36Asp) rs2068775011
NM_000744.7(CHRNA4):c.1090G>A (p.Val364Ile)
NM_000744.7(CHRNA4):c.1091T>A (p.Val364Asp)
NM_000744.7(CHRNA4):c.109G>C (p.Glu37Gln)
NM_000744.7(CHRNA4):c.1103G>A (p.Cys368Tyr)
NM_000744.7(CHRNA4):c.1129A>C (p.Lys377Gln)
NM_000744.7(CHRNA4):c.1131G>T (p.Lys377Asn) rs2123471394
NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs) rs2068568636
NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn) rs1601474256
NM_000744.7(CHRNA4):c.1161G>C (p.Glu387Asp) rs1064795592
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln) rs1412355004
NM_000744.7(CHRNA4):c.1178del (p.Pro393fs) rs1435638963
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs) rs1435638963
NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala) rs2068567925
NM_000744.7(CHRNA4):c.1188C>A (p.Ser396Arg)
NM_000744.7(CHRNA4):c.1192A>G (p.Thr398Ala)
NM_000744.7(CHRNA4):c.1206C>A (p.His402Gln)
NM_000744.7(CHRNA4):c.1207C>A (p.Pro403Thr) rs903340563
NM_000744.7(CHRNA4):c.1207C>T (p.Pro403Ser)
NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs) rs2068566927
NM_000744.7(CHRNA4):c.1209_1210delinsTT (p.Pro404Ser) rs1064795858
NM_000744.7(CHRNA4):c.1211C>T (p.Pro404Leu) rs1435870435
NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu) rs1568808891
NM_000744.7(CHRNA4):c.1216C>A (p.Pro406Thr) rs571283490
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.7(CHRNA4):c.1231C>A (p.Pro411Thr) rs2068565794
NM_000744.7(CHRNA4):c.1232C>T (p.Pro411Leu) rs779035642
NM_000744.7(CHRNA4):c.1255G>A (p.Gly419Arg) rs2068565140
NM_000744.7(CHRNA4):c.1274C>T (p.Pro425Leu) rs561073516
NM_000744.7(CHRNA4):c.1279G>A (p.Asp427Asn) rs1196580622
NM_000744.7(CHRNA4):c.1285C>T (p.Leu429Phe)
NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser) rs545104411
NM_000744.7(CHRNA4):c.1306G>A (p.Glu436Lys)
NM_000744.7(CHRNA4):c.1313A>G (p.Glu438Gly) rs2068563339
NM_000744.7(CHRNA4):c.1325C>T (p.Pro442Leu)
NM_000744.7(CHRNA4):c.1349G>A (p.Arg450His)
NM_000744.7(CHRNA4):c.1355C>T (p.Pro452Leu) rs2068562170
NM_000744.7(CHRNA4):c.1372C>T (p.Pro458Ser)
NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln) rs121912277
NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr) rs1568808487
NM_000744.7(CHRNA4):c.139G>A (p.Gly47Ser)
NM_000744.7(CHRNA4):c.1400G>A (p.Ser467Asn)
NM_000744.7(CHRNA4):c.1401C>G (p.Ser467Arg) rs45569837
NM_000744.7(CHRNA4):c.1411A>G (p.Met471Val) rs1568808418
NM_000744.7(CHRNA4):c.1415C>G (p.Ser472Cys)
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn) rs2068560302
NM_000744.7(CHRNA4):c.1444G>A (p.Val482Ile)
NM_000744.7(CHRNA4):c.144CAA[1] (p.Asn49del) rs780385531
NM_000744.7(CHRNA4):c.1453C>T (p.Arg485Trp) rs978124935
NM_000744.7(CHRNA4):c.147C>G (p.Asn49Lys)
NM_000744.7(CHRNA4):c.1484G>A (p.Arg495Gln)
NM_000744.7(CHRNA4):c.1489G>A (p.Asp497Asn)
NM_000744.7(CHRNA4):c.1496C>A (p.Ala499Asp) rs1191814622
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val) rs946142547
NM_000744.7(CHRNA4):c.14del (p.Gly5fs) rs2068814247
NM_000744.7(CHRNA4):c.1500dup (p.Glu501fs)
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
NM_000744.7(CHRNA4):c.1523_1525dup (p.Gly508dup) rs2068557278
NM_000744.7(CHRNA4):c.152G>A (p.Trp51Ter)
NM_000744.7(CHRNA4):c.1542C>G (p.Asn514Lys)
NM_000744.7(CHRNA4):c.1547A>G (p.His516Arg)
NM_000744.7(CHRNA4):c.1553C>G (p.Ala518Gly) rs201365294
NM_000744.7(CHRNA4):c.1553C>T (p.Ala518Val)
NM_000744.7(CHRNA4):c.1574A>G (p.Gln525Arg) rs1445972429
NM_000744.7(CHRNA4):c.1589A>C (p.Lys530Thr) rs2123470034
NM_000744.7(CHRNA4):c.1600AAG[1] (p.Lys535del) rs2068554810
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
NM_000744.7(CHRNA4):c.161C>G (p.Pro54Arg) rs2145408375
NM_000744.7(CHRNA4):c.1622C>T (p.Ser541Phe)
NM_000744.7(CHRNA4):c.1625C>A (p.Pro542Gln)
NM_000744.7(CHRNA4):c.1629C>G (p.Ser543Arg) rs1044396
NM_000744.7(CHRNA4):c.1631C>T (p.Ala544Val)
NM_000744.7(CHRNA4):c.1635_1636insTGCCACG (p.Val546fs)
NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly) rs367658654
NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser) rs757510859
NM_000744.7(CHRNA4):c.1686_1689del (p.Pro562_Ala563insTer)
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr) rs796052312
NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly) rs76895198
NM_000744.7(CHRNA4):c.1719C>A (p.Tyr573Ter) rs2123469625
NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn) rs537904499
NM_000744.7(CHRNA4):c.1729C>T (p.His577Tyr)
NM_000744.7(CHRNA4):c.172A>G (p.Ile58Val) rs760044129
NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs) rs772170088
NM_000744.7(CHRNA4):c.174C>G (p.Ile58Met) rs2068772907
NM_000744.7(CHRNA4):c.1758+1G>T
NM_000744.7(CHRNA4):c.1758G>A (p.Ser586=)
NM_000744.7(CHRNA4):c.1759-19A>C
NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)
NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)
NM_000744.7(CHRNA4):c.1780G>T (p.Val594Leu) rs370887602
NM_000744.7(CHRNA4):c.1800C>T (p.Arg600=) rs2068503706
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu) rs112051150
NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu) rs150451372
NM_000744.7(CHRNA4):c.1825G>T (p.Val609Phe) rs201168195
NM_000744.7(CHRNA4):c.183_195dup (p.Phe66fs)
NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met)
NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val) rs796052324
NM_000744.7(CHRNA4):c.184G>A (p.Val62Ile)
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu) rs1568805215
NM_000744.7(CHRNA4):c.1858C>T (p.Pro620Ser) rs1218865781
NM_000744.7(CHRNA4):c.1859C>G (p.Pro620Arg) rs754340834
NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu) rs201018244
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu) rs1359272155
NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp) rs1568819500
NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)
NM_000744.7(CHRNA4):c.210C>A (p.Ile70=) rs765247204
NM_000744.7(CHRNA4):c.220A>C (p.Ile74Leu) rs2068771449
NM_000744.7(CHRNA4):c.227T>G (p.Val76Gly)
NM_000744.7(CHRNA4):c.228+6T>A
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter) rs2145401994
NM_000744.7(CHRNA4):c.274-3C>T
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly) rs2068813671
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr) rs2068814460
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn) rs1427242612
NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu) rs759593635
NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)
NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)
NM_000744.7(CHRNA4):c.345C>A (p.Ser115=) rs201033859
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp) rs866334493
NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe) rs1568816521
NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)
NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)
NM_000744.7(CHRNA4):c.382_383+1dup rs2145400815
NM_000744.7(CHRNA4):c.383+3G>A
NM_000744.7(CHRNA4):c.384-3C>G rs894265779
NM_000744.7(CHRNA4):c.388G>C (p.Asp130His) rs2068589553
NM_000744.7(CHRNA4):c.389A>G (p.Asp130Gly)
NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del) rs771936944
NM_000744.7(CHRNA4):c.391G>T (p.Gly131Trp)
NM_000744.7(CHRNA4):c.403_409del (p.Val135fs)
NM_000744.7(CHRNA4):c.409C>G (p.His137Asp) rs1326365559
NM_000744.7(CHRNA4):c.410A>G (p.His137Arg) rs1380488577
NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln) rs1379403896
NM_000744.7(CHRNA4):c.419A>G (p.Lys140Arg)
NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup) rs1053984520
NM_000744.7(CHRNA4):c.431T>G (p.Phe144Cys)
NM_000744.7(CHRNA4):c.431del (p.Phe144fs) rs2068588736
NM_000744.7(CHRNA4):c.434A>G (p.His145Arg) rs2123473347
NM_000744.7(CHRNA4):c.439G>T (p.Gly147Trp) rs780556996
NM_000744.7(CHRNA4):c.443G>A (p.Arg148Gln)
NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter) rs200747769
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro) rs886044055
NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val) rs754895704
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln) rs2145412501
NM_000744.7(CHRNA4):c.505C>T (p.Pro169Ser)
NM_000744.7(CHRNA4):c.506C>G (p.Pro169Arg) rs199519224
NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu) rs199519224
NM_000744.7(CHRNA4):c.507del (p.Phe170fs) rs1250589502
NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn) rs1352017376
NM_000744.7(CHRNA4):c.515A>G (p.Gln172Arg) rs2068586894
NM_000744.7(CHRNA4):c.522C>A (p.Asn174Lys) rs2068586748
NM_000744.7(CHRNA4):c.522C>G (p.Asn174Lys) rs2068586748
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup) rs2068812649
NM_000744.7(CHRNA4):c.538G>A (p.Gly180Ser)
NM_000744.7(CHRNA4):c.552C>G (p.Tyr184Ter) rs112301452
NM_000744.7(CHRNA4):c.565A>G (p.Ile189Val)
NM_000744.7(CHRNA4):c.568G>T (p.Asp190Tyr) rs750232429
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=) rs927241644
NM_000744.7(CHRNA4):c.580A>G (p.Met194Val)
NM_000744.7(CHRNA4):c.605A>C (p.Asp202Ala)
NM_000744.7(CHRNA4):c.613G>A (p.Glu205Lys)
NM_000744.7(CHRNA4):c.615G>C (p.Glu205Asp) rs2123472933
NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys) rs771249249
NM_000744.7(CHRNA4):c.629T>C (p.Val210Ala) rs1252975373
NM_000744.7(CHRNA4):c.631A>G (p.Ile211Val) rs749493840
NM_000744.7(CHRNA4):c.634G>A (p.Val212Met)
NM_000744.7(CHRNA4):c.643G>A (p.Val215Met) rs918550714
NM_000744.7(CHRNA4):c.647G>C (p.Gly216Ala)
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr) rs201645533
NM_000744.7(CHRNA4):c.663G>T (p.Arg221Ser)
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys) rs1064795157
NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val) rs1568810474
NM_000744.7(CHRNA4):c.704A>G (p.Tyr235Cys)
NM_000744.7(CHRNA4):c.721C>G (p.Arg241Gly)
NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr) rs1568810345
NM_000744.7(CHRNA4):c.731T>C (p.Leu244Pro) rs2123472530
NM_000744.7(CHRNA4):c.748C>T (p.Leu250Phe) rs759579810
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
NM_000744.7(CHRNA4):c.755T>C (p.Ile252Thr) rs1601476010
NM_000744.7(CHRNA4):c.76+1G>A rs2068812210
NM_000744.7(CHRNA4):c.771C>G (p.Ile257Met)
NM_000744.7(CHRNA4):c.775_840dup (p.Ser280_Val281insCysLeuThrValLeuValPheTyrLeuProSerGluCysGlyGluLysIleThrLeuCysIleSer)
NM_000744.7(CHRNA4):c.778C>T (p.Leu260Phe)
NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val) rs761362001
NM_000744.7(CHRNA4):c.790G>A (p.Val264Ile) rs2068579848
NM_000744.7(CHRNA4):c.797A>G (p.Tyr266Cys)
NM_000744.7(CHRNA4):c.800T>G (p.Leu267Arg) rs2068579508
NM_000744.7(CHRNA4):c.802C>T (p.Pro268Ser)
NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys) rs2123472338
NM_000744.7(CHRNA4):c.810G>C (p.Glu270Asp) rs2123472324
NM_000744.7(CHRNA4):c.810G>T (p.Glu270Asp)
NM_000744.7(CHRNA4):c.81C>A (p.Ser27Arg) rs1211831892
NM_000744.7(CHRNA4):c.825C>G (p.Ile275Met)
NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro) rs2068578781
NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys) rs121909580
NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val) rs1601475770
NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp) rs28931591
NM_000744.7(CHRNA4):c.871C>T (p.Leu291Phe)
NM_000744.7(CHRNA4):c.88G>C (p.Val30Leu) rs746557446
NM_000744.7(CHRNA4):c.890C>T (p.Pro297Leu)
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln) rs2145412488
NM_000744.7(CHRNA4):c.913C>G (p.Leu305Val) rs2123472055
NM_000744.7(CHRNA4):c.922G>T (p.Glu308Ter) rs1369167310
NM_000744.7(CHRNA4):c.940A>T (p.Met314Leu)
NM_000744.7(CHRNA4):c.946T>G (p.Phe316Val)
NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp) rs2068575976
NM_000744.7(CHRNA4):c.953C>A (p.Thr318Asn) rs121912260
NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)
NM_000744.7(CHRNA4):c.956T>C (p.Leu319Pro) rs1315507965
NM_000744.7(CHRNA4):c.973G>A (p.Val325Ile)
NM_000744.7(CHRNA4):c.979G>C (p.Val327Leu)
NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp) rs370553755
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
NM_000748.3(CHRNB2):c.1017C>A (p.Phe339Leu) rs756041212
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr) rs927693883
NM_000748.3(CHRNB2):c.1040T>C (p.Leu347Pro)
NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) rs1557850747
NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)
NM_000748.3(CHRNB2):c.1078C>T (p.Arg360Cys) rs2101521916
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3]) rs781654245
NM_000748.3(CHRNB2):c.1088_1093dup (p.361LR[3]) rs2101521963
NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)
NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)
NM_000748.3(CHRNB2):c.1097_1099dup (p.Arg366_Gln367insArg)
NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)
NM_000748.3(CHRNB2):c.1100A>G (p.Gln367Arg)
NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His) rs200483865
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys) rs1696175893
NM_000748.3(CHRNB2):c.1111_1118del (p.Glu371fs)
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
NM_000748.3(CHRNB2):c.1150G>A (p.Ala384Thr) rs2101522239
NM_000748.3(CHRNB2):c.1169T>C (p.Phe390Ser) rs2101522326
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu) rs770055798
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys) rs560427247
NM_000748.3(CHRNB2):c.1190A>C (p.Gln397Pro)
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg) rs200441832
NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys) rs1174834370
NM_000748.3(CHRNB2):c.1240G>A (p.Gly414Arg) rs1024048381
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg) rs1024048381
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His) rs971173003
NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg) rs1057520852
NM_000748.3(CHRNB2):c.1252G>T (p.Glu418Ter) rs1375045864
NM_000748.3(CHRNB2):c.1256C>A (p.Pro419Gln) rs908723251
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe) rs2101522745
NM_000748.3(CHRNB2):c.1282G>A (p.Val428Met)
NM_000748.3(CHRNB2):c.1285G>A (p.Asp429Asn)
NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)
NM_000748.3(CHRNB2):c.1300A>T (p.Ile434Phe) rs1171180526
NM_000748.3(CHRNB2):c.1316G>A (p.Arg439Gln)
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) rs1557852381
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)
NM_000748.3(CHRNB2):c.1343G>T (p.Ser448Ile) rs774575734
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs) rs1696260248
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter) rs761717685
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
NM_000748.3(CHRNB2):c.1378C>T (p.Arg460Cys) rs202079239
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) rs1297214421
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro) rs1696261435
NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)
NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly) rs1261047629
NM_000748.3(CHRNB2):c.1400T>C (p.Val467Ala)
NM_000748.3(CHRNB2):c.1402T>C (p.Phe468Leu)
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs) rs796052332
NM_000748.3(CHRNB2):c.1417G>A (p.Gly473Ser) rs1696262468
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val) rs202135710
NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)
NM_000748.3(CHRNB2):c.1430T>C (p.Met477Thr)
NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)
NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu) rs1696263260
NM_000748.3(CHRNB2):c.1451A>G (p.Gln484Arg) rs1275049751
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser) rs762363770
NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser) rs2149365741
NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)
NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)
NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter) rs1696125297
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp) rs1304588530
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)
NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu) rs2149365728
NM_000748.3(CHRNB2):c.211-3C>A
NM_000748.3(CHRNB2):c.21del (p.Val8fs) rs2149365744
NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu) rs2149366248
NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu) rs772815972
NM_000748.3(CHRNB2):c.262G>A (p.Glu88Lys) rs1182581432
NM_000748.3(CHRNB2):c.281G>C (p.Trp94Ser) rs2101518911
NM_000748.3(CHRNB2):c.297del (p.Phe99fs) rs1696138351
NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys) rs1430279652
NM_000748.3(CHRNB2):c.301A>C (p.Asn101His) rs929185848
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp) rs929185848
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile) rs1696138605
NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)
NM_000748.3(CHRNB2):c.344C>T (p.Pro115Leu) rs2101519039
NM_000748.3(CHRNB2):c.365+2T>C rs1440177267
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=) rs748227150
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys) rs760458701
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=) rs1696159240
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) rs1557851437
NM_000748.3(CHRNB2):c.466A>G (p.Lys156Glu)
NM_000748.3(CHRNB2):c.470T>A (p.Ile157Asn)
NM_000748.3(CHRNB2):c.481C>T (p.His161Tyr) rs1282479699
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser) rs1696160348
NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser) rs2149365730
NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)
NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)
NM_000748.3(CHRNB2):c.524C>G (p.Ser175Trp) rs75760566
NM_000748.3(CHRNB2):c.535G>A (p.Asp179Asn) rs760490640
NM_000748.3(CHRNB2):c.539G>C (p.Arg180Pro) rs768297928
NM_000748.3(CHRNB2):c.544del (p.Glu182fs)
NM_000748.3(CHRNB2):c.554T>C (p.Leu185Ser) rs1696161618
NM_000748.3(CHRNB2):c.571G>T (p.Val191Leu) rs2101520587
NM_000748.3(CHRNB2):c.578G>T (p.Ser193Ile) rs2101520597
NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)
NM_000748.3(CHRNB2):c.593C>T (p.Thr198Ile)
NM_000748.3(CHRNB2):c.599G>A (p.Ser200Asn)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
NM_000748.3(CHRNB2):c.64+3A>G
NM_000748.3(CHRNB2):c.648del (p.Asp217fs) rs2101520745
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
NM_000748.3(CHRNB2):c.65-2A>G
NM_000748.3(CHRNB2):c.65-2del rs1696121118
NM_000748.3(CHRNB2):c.652G>A (p.Asp218Asn) rs1429118769
NM_000748.3(CHRNB2):c.653A>C (p.Asp218Ala) rs2101520790
NM_000748.3(CHRNB2):c.664G>C (p.Val222Leu) rs1453075590
NM_000748.3(CHRNB2):c.674C>G (p.Thr225Arg) rs201952018
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met) rs1244782091
NM_000748.3(CHRNB2):c.701C>T (p.Pro234Leu)
NM_000748.3(CHRNB2):c.732_733del (p.Val246fs) rs2101520989
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr) rs2101521069
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) rs1212070745
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
NM_000748.3(CHRNB2):c.796A>T (p.Met266Leu) rs2101521127
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
NM_000748.3(CHRNB2):c.820del (p.Leu274fs)
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val) rs201393088
NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala) rs2149366120
NM_000748.3(CHRNB2):c.833T>C (p.Val278Ala) rs2101521195
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe) rs1387572771
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe) rs1388744144
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs) rs2101521229
NM_000748.3(CHRNB2):c.859_867del (p.Val287_Pro289del) rs2101521275
NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)
NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)
NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)
NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)
NM_000748.3(CHRNB2):c.893G>A (p.Gly298Asp) rs868235334
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val) rs868235334
NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile) rs200720061
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
NM_000748.3(CHRNB2):c.929T>A (p.Phe310Tyr) rs2101521485
NM_000748.3(CHRNB2):c.930del (p.Ser311fs) rs1696170002
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile) rs770557644
NM_000748.3(CHRNB2):c.946G>T (p.Val316Leu)
NM_000748.3(CHRNB2):c.953T>C (p.Val318Ala) rs2101521543
NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)
NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)
NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu) rs1571022546
NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)
NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys) rs1554115593
NM_000811.3(GABRA6):c.847A>G (p.Met283Val) rs1554115829
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu) rs1405349026
NM_001077350.3(NPRL3):c.1015A>G (p.Asn339Asp)
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile) rs11558704
NM_001077350.3(NPRL3):c.1024G>C (p.Val342Leu)
NM_001077350.3(NPRL3):c.1031+5G>A
NM_001077350.3(NPRL3):c.1031+7G>A
NM_001077350.3(NPRL3):c.1032G>T (p.Leu344=)
NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)
NM_001077350.3(NPRL3):c.1045G>T (p.Ala349Ser) rs1388346755
NM_001077350.3(NPRL3):c.1053G>C (p.Gln351His) rs2141907979
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.1068C>G (p.Phe356Leu) rs1229321872
NM_001077350.3(NPRL3):c.107C>T (p.Ala36Val)
NM_001077350.3(NPRL3):c.1092T>G (p.Val364=)
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys) rs1050077507
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup) rs780621579
NM_001077350.3(NPRL3):c.1120T>C (p.Leu374=)
NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)
NM_001077350.3(NPRL3):c.1148C>G (p.Pro383Arg) rs1898807635
NM_001077350.3(NPRL3):c.1153G>A (p.Val385Met) rs1898807118
NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)
NM_001077350.3(NPRL3):c.1161+15C>A
NM_001077350.3(NPRL3):c.1161+5G>A
NM_001077350.3(NPRL3):c.1161+6T>C
NM_001077350.3(NPRL3):c.1162-4G>C rs539175375
NM_001077350.3(NPRL3):c.116C>A (p.Thr39Lys)
NM_001077350.3(NPRL3):c.118+11G>T
NM_001077350.3(NPRL3):c.118+16G>T
NM_001077350.3(NPRL3):c.118+18G>C
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.118+6T>C
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del) rs992225807
NM_001077350.3(NPRL3):c.119-3C>G rs1900744785
NM_001077350.3(NPRL3):c.1191G>A (p.Met397Ile)
NM_001077350.3(NPRL3):c.1198C>A (p.Arg400Ser) rs556683821
NM_001077350.3(NPRL3):c.119G>A (p.Ser40Asn)
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr) rs1277893899
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser) rs759212295
NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro) rs2141902503
NM_001077350.3(NPRL3):c.1211T>G (p.Ile404Ser)
NM_001077350.3(NPRL3):c.121A>G (p.Lys41Glu) rs1299719512
NM_001077350.3(NPRL3):c.1221C>T (p.His407=)
NM_001077350.3(NPRL3):c.1223C>T (p.Thr408Ile) rs762208602
NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val) rs749424318
NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile) rs1057524503
NM_001077350.3(NPRL3):c.1247C>G (p.Pro416Arg) rs746082270
NM_001077350.3(NPRL3):c.1252GAG[2] (p.Glu420del) rs765072700
NM_001077350.3(NPRL3):c.1258G>C (p.Glu420Gln)
NM_001077350.3(NPRL3):c.1261_1281dup (p.Pro421_Asp427dup) rs2141902200
NM_001077350.3(NPRL3):c.1270C>A (p.Arg424=)
NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His) rs376476299
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro) rs376476299
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu) rs376476299
NM_001077350.3(NPRL3):c.1291A>T (p.Thr431Ser) rs2141902154
NM_001077350.3(NPRL3):c.1298G>C (p.Arg433Pro) rs781225056
NM_001077350.3(NPRL3):c.1302C>G (p.Val434=)
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val) rs767317111
NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)
NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg) rs1336372042
NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met) rs776673140
NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)
NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)
NM_001077350.3(NPRL3):c.1351+16C>T
NM_001077350.3(NPRL3):c.1351+19C>G
NM_001077350.3(NPRL3):c.1351+3A>G
NM_001077350.3(NPRL3):c.1352-5C>A rs745831986
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=) rs756373989
NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)
NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)
NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)
NM_001077350.3(NPRL3):c.136T>C (p.Tyr46His)
NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)
NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser) rs1401901852
NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)
NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu) rs2141899988
NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg) rs774394208
NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys) rs2141899969
NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)
NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val) rs1898614224
NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del) rs2141899739
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn) rs776554504
NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)
NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)
NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile) rs2141899710
NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)
NM_001077350.3(NPRL3):c.1544+3_1544+5del rs1898611086
NM_001077350.3(NPRL3):c.1545G>A (p.Arg515=) rs2141895127
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter) rs2141895094
NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs) rs1596492194
NM_001077350.3(NPRL3):c.1565del (p.Gly522fs)
NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser) rs189283988
NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)
NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu) rs1898496064
NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)
NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del) rs2141894975
NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)
NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr) rs1453118437
NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile) rs2141894953
NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)
NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)
NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)
NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)
NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)
NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His) rs771288626
NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del) rs2141894817
NM_001077350.3(NPRL3):c.161A>G (p.His54Arg) rs1900741473
NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro) rs2141894824
NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)
NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly) rs537555038
NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg) rs1191944943
NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met) rs188724206
NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu) rs188724206
NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu) rs188724206
NM_001077350.3(NPRL3):c.1654del (p.Val552fs)
NM_001077350.3(NPRL3):c.1666del (p.His556fs) rs2141894715
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro) rs1898489910
NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr) rs1898488842
NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)
NM_001077350.3(NPRL3):c.169G>A (p.Glu57Lys) rs907712162
NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)
NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu) rs1048069050
NM_001077350.3(NPRL3):c.178G>A (p.Gly60Ser)
NM_001077350.3(NPRL3):c.188+5A>C
NM_001077350.3(NPRL3):c.188+5A>G
NM_001077350.3(NPRL3):c.189-3A>G rs1900184532
NM_001077350.3(NPRL3):c.189G>A (p.Arg63=)
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr) rs1901212556
NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr) rs1900182442
NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)
NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly) rs760236969
NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)
NM_001077350.3(NPRL3):c.283G>C (p.Gly95Arg)
NM_001077350.3(NPRL3):c.289C>G (p.Pro97Ala)
NM_001077350.3(NPRL3):c.292A>G (p.Thr98Ala) rs1900178756
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile) rs1596528750
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val) rs1900178162
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met) rs1900177602
NM_001077350.3(NPRL3):c.318+11C>A
NM_001077350.3(NPRL3):c.318+3A>G rs746765533
NM_001077350.3(NPRL3):c.319-10T>A rs1900090284
NM_001077350.3(NPRL3):c.377T>C (p.Val126Ala) rs1024335545
NM_001077350.3(NPRL3):c.377T>G (p.Val126Gly) rs1024335545
NM_001077350.3(NPRL3):c.393+3G>C rs1567141885
NM_001077350.3(NPRL3):c.393+4_393+7del rs757371554
NM_001077350.3(NPRL3):c.393+5G>A
NM_001077350.3(NPRL3):c.394-16_394-15delinsTT
NM_001077350.3(NPRL3):c.394G>A (p.Ala132Thr) rs1899875190
NM_001077350.3(NPRL3):c.400G>T (p.Ala134Ser)
NM_001077350.3(NPRL3):c.406C>T (p.Pro136Ser)
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln) rs547462000
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr) rs764927474
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.439C>G (p.Arg147Gly)
NM_001077350.3(NPRL3):c.440G>A (p.Arg147His) rs1470285968
NM_001077350.3(NPRL3):c.451A>G (p.Thr151Ala) rs1899870989
NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)
NM_001077350.3(NPRL3):c.465C>G (p.His155Gln) rs774187145
NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)
NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)
NM_001077350.3(NPRL3):c.488_490dup (p.Leu163_Thr164insIle)
NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)
NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)
NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
NM_001077350.3(NPRL3):c.542C>T (p.Ala181Val) rs1452724103
NM_001077350.3(NPRL3):c.547+20A>T
NM_001077350.3(NPRL3):c.548-3T>C
NM_001077350.3(NPRL3):c.548-7C>T
NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)
NM_001077350.3(NPRL3):c.556G>C (p.Gly186Arg) rs2141946228
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser) rs1899761608
NM_001077350.3(NPRL3):c.566C>A (p.Ser189Tyr)
NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)
NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)
NM_001077350.3(NPRL3):c.577C>T (p.His193Tyr) rs1367511037
NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)
NM_001077350.3(NPRL3):c.608A>C (p.Asp203Ala) rs1899757551
NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)
NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)
NM_001077350.3(NPRL3):c.629+3A>G
NM_001077350.3(NPRL3):c.629+4A>G rs1220187651
NM_001077350.3(NPRL3):c.629+5G>A rs2141946040
NM_001077350.3(NPRL3):c.629+8A>G
NM_001077350.3(NPRL3):c.630-3C>G rs2141925516
NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)
NM_001077350.3(NPRL3):c.667A>G (p.Ser223Gly)
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu) rs1899232122
NM_001077350.3(NPRL3):c.686_688del (p.Phe229del)
NM_001077350.3(NPRL3):c.691_717del (p.Leu231_Ala239del) rs1300716374
NM_001077350.3(NPRL3):c.696C>G (p.Pro232=)
NM_001077350.3(NPRL3):c.700A>G (p.Lys234Glu) rs1899230843
NM_001077350.3(NPRL3):c.730C>T (p.Pro244Ser) rs1225559784
NM_001077350.3(NPRL3):c.737A>G (p.Glu246Gly)
NM_001077350.3(NPRL3):c.73A>G (p.Arg25Gly)
NM_001077350.3(NPRL3):c.744C>G (p.Ile248Met) rs375592476
NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp) rs2141925147
NM_001077350.3(NPRL3):c.749G>A (p.Arg250Gln) rs947759739
NM_001077350.3(NPRL3):c.74G>C (p.Arg25Thr) rs1901209994
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met) rs1901209994
NM_001077350.3(NPRL3):c.750G>A (p.Arg250=)
NM_001077350.3(NPRL3):c.760G>A (p.Ala254Thr)
NM_001077350.3(NPRL3):c.761C>T (p.Ala254Val) rs1899225654
NM_001077350.3(NPRL3):c.766C>T (p.Arg256Cys) rs779688768
NM_001077350.3(NPRL3):c.768-6T>C
NM_001077350.3(NPRL3):c.772T>G (p.Tyr258Asp)
NM_001077350.3(NPRL3):c.775C>T (p.His259Tyr)
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg) rs1899109777
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro) rs1899109340
NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)
NM_001077350.3(NPRL3):c.804G>C (p.Lys268Asn)
NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)
NM_001077350.3(NPRL3):c.821T>C (p.Leu274Pro)
NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)
NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)
NM_001077350.3(NPRL3):c.851G>A (p.Arg284Gln) rs1437185591
NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)
NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)
NM_001077350.3(NPRL3):c.8ACA[1] (p.Asn4del) rs2141995584
NM_001077350.3(NPRL3):c.914C>T (p.Ala305Val) rs2141920111
NM_001077350.3(NPRL3):c.924+3A>G
NM_001077350.3(NPRL3):c.924+5A>T rs1899101610
NM_001077350.3(NPRL3):c.924+9C>G
NM_001077350.3(NPRL3):c.925-3C>T rs2141909476
NM_001077350.3(NPRL3):c.925-8del rs2141909491
NM_001077350.3(NPRL3):c.925-9T>C
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn) rs780716774
NM_001077350.3(NPRL3):c.967ATC[2] (p.Ile325del) rs1287678265
NM_001077350.3(NPRL3):c.979C>T (p.Pro327Ser) rs2141909329
NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del) rs1555440242
NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)
NM_001077350.3(NPRL3):c.99G>C (p.Glu33Asp) rs2141995418
NM_001077350.3(NPRL3):c.9C>A (p.Asp3Glu)
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu) rs1478358968
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu) rs1236884779
NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met)
NM_001099403.2(PRDM8):c.1079G>T (p.Ser360Ile)
NM_001099403.2(PRDM8):c.1084T>A (p.Phe362Ile) rs2109879102
NM_001099403.2(PRDM8):c.1084T>C (p.Phe362Leu)
NM_001099403.2(PRDM8):c.1109T>C (p.Leu370Pro) rs1449739343
NM_001099403.2(PRDM8):c.1142_1204del (p.Ala381_Glu401del) rs2109879206
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala) rs1738600010
NM_001099403.2(PRDM8):c.1168AAG[1] (p.Lys391del) rs904587436
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn) rs1292648964
NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr)
NM_001099403.2(PRDM8):c.1184C>T (p.Ala395Val)
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val) rs1199491730
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp)
NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu) rs1014511302
NM_001099403.2(PRDM8):c.1249GGC[3] (p.Gly420_Gly421del) rs1024186691
NM_001099403.2(PRDM8):c.1249GGC[6] (p.Gly421dup) rs1024186691
NM_001099403.2(PRDM8):c.1249GGC[7] (p.Gly420_Gly421dup) rs1024186691
NM_001099403.2(PRDM8):c.1270A>C (p.Thr424Pro)
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del) rs1738619565
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser) rs979733757
NM_001099403.2(PRDM8):c.1305G>C (p.Lys435Asn)
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser) rs1738630893
NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro)
NM_001099403.2(PRDM8):c.1350G>T (p.Glu450Asp) rs1578265647
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg)
NM_001099403.2(PRDM8):c.1447G>A (p.Ala483Thr) rs544862921
NM_001099403.2(PRDM8):c.1454G>A (p.Gly485Asp) rs1441323262
NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1])
NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg)
NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val) rs1379672825
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu) rs1560479209
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr) rs1560479219
NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly)
NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp) rs1738658290
NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg)
NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)
NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu)
NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr)
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter) rs1738669010
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp) rs778713373
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_001099403.2(PRDM8):c.1579C>T (p.His527Tyr) rs2109880022
NM_001099403.2(PRDM8):c.1615C>T (p.Pro539Ser) rs755993425
NM_001099403.2(PRDM8):c.1634T>C (p.Leu545Pro) rs2109880158
NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val) rs2109875752
NM_001099403.2(PRDM8):c.1646T>G (p.Leu549Arg) rs1414709299
NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro)
NM_001099403.2(PRDM8):c.1655C>T (p.Ala552Val) rs559909369
NM_001099403.2(PRDM8):c.1657G>A (p.Ala553Thr) rs867590589
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser) rs866625939
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup) rs756781919
NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val)
NM_001099403.2(PRDM8):c.1736C>T (p.Thr579Ile) rs1738703576
NM_001099403.2(PRDM8):c.1739C>T (p.Ala580Val) rs1325853079
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg) rs1738705118
NM_001099403.2(PRDM8):c.1761_1787del (p.Ala590_Ala598del) rs750030014
NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val)
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup) rs1480528424
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del) rs1738710271
NM_001099403.2(PRDM8):c.1770_1781dup (p.Ala595_Ala598dup) rs1044242742
NM_001099403.2(PRDM8):c.1777G>C (p.Ala593Pro) rs1461303254
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup) rs1395259146
NM_001099403.2(PRDM8):c.1782GGC[4] (p.Ala598dup) rs770253118
NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val)
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn) rs1738314211
NM_001099403.2(PRDM8):c.1805AGCTGC[1] (p.602QL[1]) rs777876948
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_001099403.2(PRDM8):c.1871A>C (p.Gln624Pro)
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser) rs1738732855
NM_001099403.2(PRDM8):c.1897T>G (p.Ser633Ala) rs2109880734
NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu) rs1353802596
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met) rs1578268165
NM_001099403.2(PRDM8):c.1967C>T (p.Pro656Leu) rs780244125
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_001099403.2(PRDM8):c.2060C>G (p.Ser687Trp) rs2109880891
NM_001099403.2(PRDM8):c.224A>T (p.Asp75Val) rs2109876937
NM_001099403.2(PRDM8):c.250G>A (p.Glu84Lys) rs1738421294
NM_001099403.2(PRDM8):c.259A>G (p.Met87Val)
NM_001099403.2(PRDM8):c.328G>A (p.Gly110Arg) rs199746703
NM_001099403.2(PRDM8):c.331C>G (p.Gln111Glu)
NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn) rs768984964
NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu)
NM_001099403.2(PRDM8):c.424C>T (p.Pro142Ser)
NM_001099403.2(PRDM8):c.441_444del (p.Asn147fs) rs2109877216
NM_001099403.2(PRDM8):c.502T>C (p.Phe168Leu)
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu) rs775462847
NM_001099403.2(PRDM8):c.532T>C (p.Cys178Arg) rs2109877963
NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg) rs767040118
NM_001099403.2(PRDM8):c.556G>C (p.Asp186His)
NM_001099403.2(PRDM8):c.560T>C (p.Ile187Thr) rs1191905970
NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp)
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) rs1578262845
NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys) rs766294833
NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp) rs776620537
NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp) rs2109878137
NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup) rs769029025
NM_001099403.2(PRDM8):c.620G>A (p.Gly207Asp) rs764059996
NM_001099403.2(PRDM8):c.634CAG[7] (p.Gln217dup) rs748593482
NM_001099403.2(PRDM8):c.649C>A (p.Gln217Lys)
NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu)
NM_001099403.2(PRDM8):c.658C>T (p.Pro220Ser) rs1738523106
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu) rs1738530929
NM_001099403.2(PRDM8):c.715C>A (p.Pro239Thr) rs760107518
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile) rs764408979
NM_001099403.2(PRDM8):c.736C>A (p.Pro246Thr) rs1330185577
NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser) rs1330185577
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys) rs781560136
NM_001099403.2(PRDM8):c.761G>C (p.Ser254Thr) rs1738540197
NM_001099403.2(PRDM8):c.796A>T (p.Arg266Trp)
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_001099403.2(PRDM8):c.859AGCGGC[1] (p.285SG[2]) rs763199170
NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile)
NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly)
NM_001099403.2(PRDM8):c.865_876dup (p.Ser289_Gly292dup) rs771118168
NM_001099403.2(PRDM8):c.868GGC[2] (p.Gly292_Gly294del) rs752636419
NM_001099403.2(PRDM8):c.868GGC[6] (p.Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.868GGC[7] (p.Gly293_Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.868GGC[8] (p.Gly292_Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser) rs1738555644
NM_001099403.2(PRDM8):c.880G>T (p.Gly294Cys) rs1738555862
NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter)
NM_001099403.2(PRDM8):c.895G>C (p.Glu299Gln) rs1294279847
NM_001099403.2(PRDM8):c.901A>G (p.Ser301Gly) rs2109878731
NM_001099403.2(PRDM8):c.904C>A (p.Pro302Thr) rs1357775685
NM_001099403.2(PRDM8):c.929G>T (p.Gly310Val)
NM_001099403.2(PRDM8):c.956A>C (p.Glu319Ala) rs1234825510
NM_001099403.2(PRDM8):c.995G>A (p.Gly332Asp)
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu) rs1323000516
NM_001112741.2(KCNC1):c.1009A>C (p.Thr337Pro)
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001112741.2(KCNC1):c.1058C>T (p.Ala353Val)
NM_001112741.2(KCNC1):c.1078G>A (p.Ala360Thr)
NM_001112741.2(KCNC1):c.1087A>G (p.Ile363Val)
NM_001112741.2(KCNC1):c.1096G>T (p.Ala366Ser)
NM_001112741.2(KCNC1):c.1121A>G (p.Asn374Ser)
NM_001112741.2(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
NM_001112741.2(KCNC1):c.1211G>A (p.Gly404Glu)
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu) rs1355766508
NM_001112741.2(KCNC1):c.1252G>T (p.Ala418Ser) rs1849239426
NM_001112741.2(KCNC1):c.1261G>A (p.Ala421Thr) rs1565162836
NM_001112741.2(KCNC1):c.1267G>T (p.Ala423Ser) rs2133805436
NM_001112741.2(KCNC1):c.1268C>T (p.Ala423Val)
NM_001112741.2(KCNC1):c.1271G>C (p.Gly424Ala)
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met) rs1085307785
NM_001112741.2(KCNC1):c.1285G>A (p.Ala429Thr) rs2133805458
NM_001112741.2(KCNC1):c.1290G>T (p.Met430Ile)
NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu) rs1849240404
NM_001112741.2(KCNC1):c.130A>G (p.Ser44Gly)
NM_001112741.2(KCNC1):c.1321A>T (p.Met441Leu) rs1849240546
NM_001112741.2(KCNC1):c.1331C>T (p.Ser444Phe)
NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr) rs1470613305
NM_001112741.2(KCNC1):c.134A>G (p.His45Arg)
NM_001112741.2(KCNC1):c.1370A>T (p.Lys457Met)
NM_001112741.2(KCNC1):c.1372A>C (p.Lys458Gln)
NM_001112741.2(KCNC1):c.1378A>G (p.Ile460Val)
NM_001112741.2(KCNC1):c.1386del (p.Pro463fs) rs2133805531
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu) rs1848763448
NM_001112741.2(KCNC1):c.1399G>C (p.Gly467Arg) rs1477026732
NM_001112741.2(KCNC1):c.1419A>T (p.Lys473Asn) rs2133805555
NM_001112741.2(KCNC1):c.1421C>A (p.Ser474Tyr) rs1554991422
NM_001112741.2(KCNC1):c.1421C>G (p.Ser474Cys) rs1554991422
NM_001112741.2(KCNC1):c.1430A>G (p.Asn477Ser) rs1849241725
NM_001112741.2(KCNC1):c.1438C>A (p.His480Asn) rs1554991425
NM_001112741.2(KCNC1):c.1460C>G (p.Thr487Arg)
NM_001112741.2(KCNC1):c.1466C>T (p.Pro489Leu) rs772473741
NM_001112741.2(KCNC1):c.1494T>G (p.Ile498Met) rs761924422
NM_001112741.2(KCNC1):c.1501G>C (p.Ala501Pro)
NM_001112741.2(KCNC1):c.1504G>A (p.Asp502Asn) rs1849242580
NM_001112741.2(KCNC1):c.1505A>G (p.Asp502Gly) rs1590109843
NM_001112741.2(KCNC1):c.1524G>T (p.Glu508Asp) rs767680364
NM_001112741.2(KCNC1):c.1525G>A (p.Val509Met) rs2133810389
NM_001112741.2(KCNC1):c.1529C>T (p.Ala510Val) rs1849322367
NM_001112741.2(KCNC1):c.1532A>G (p.Lys511Arg) rs2133810396
NM_001112741.2(KCNC1):c.1534G>C (p.Ala512Pro) rs777209898
NM_001112741.2(KCNC1):c.1544C>A (p.Ala515Glu) rs917512311
NM_001112741.2(KCNC1):c.1544C>T (p.Ala515Val) rs917512311
NM_001112741.2(KCNC1):c.1567G>A (p.Asp523Asn) rs2133810423
NM_001112741.2(KCNC1):c.1573G>A (p.Ala525Thr)
NM_001112741.2(KCNC1):c.1591G>A (p.Gly531Ser)
NM_001112741.2(KCNC1):c.1621G>C (p.Glu541Gln) rs896883949
NM_001112741.2(KCNC1):c.1625G>A (p.Arg542Lys) rs1021551048
NM_001112741.2(KCNC1):c.1625G>T (p.Arg542Ile) rs1021551048
NM_001112741.2(KCNC1):c.1633C>T (p.Pro545Ser)
NM_001112741.2(KCNC1):c.1647A>T (p.Leu549Phe)
NM_001112741.2(KCNC1):c.1648T>A (p.Ser550Thr) rs2133810488
NM_001112741.2(KCNC1):c.1648T>C (p.Ser550Pro) rs2133810488
NM_001112741.2(KCNC1):c.1649C>T (p.Ser550Leu) rs1849324263
NM_001112741.2(KCNC1):c.1651A>C (p.Thr551Pro)
NM_001112741.2(KCNC1):c.1654G>A (p.Gly552Arg) rs755386451
NM_001112741.2(KCNC1):c.1654G>C (p.Gly552Arg) rs755386451
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp) rs1167541162
NM_001112741.2(KCNC1):c.1662C>A (p.Tyr554Ter)
NM_001112741.2(KCNC1):c.1673C>T (p.Pro558Leu) rs749270474
NM_001112741.2(KCNC1):c.16G>C (p.Glu6Gln) rs2133773929
NM_001112741.2(KCNC1):c.1711C>T (p.Pro571Ser)
NM_001112741.2(KCNC1):c.1731G>C (p.Met577Ile)
NM_001112741.2(KCNC1):c.1733C>T (p.Pro578Leu) rs1361289047
NM_001112741.2(KCNC1):c.1748G>A (p.Arg583Lys)
NM_001112741.2(KCNC1):c.176G>A (p.Arg59His) rs2133774134
NM_001112741.2(KCNC1):c.223A>G (p.Lys75Glu) rs1565152713
NM_001112741.2(KCNC1):c.256C>T (p.Leu86Phe)
NM_001112741.2(KCNC1):c.320T>C (p.Met107Thr)
NM_001112741.2(KCNC1):c.391G>A (p.Ala131Thr)
NM_001112741.2(KCNC1):c.392C>A (p.Ala131Asp) rs1848765901
NM_001112741.2(KCNC1):c.400_414del (p.Ala134_Gly138del)
NM_001112741.2(KCNC1):c.401C>T (p.Ala134Val)
NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn) rs1848766389
NM_001112741.2(KCNC1):c.423C>G (p.Asp141Glu)
NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp) rs1848766892
NM_001112741.2(KCNC1):c.435C>T (p.Gly145=) rs767598381
NM_001112741.2(KCNC1):c.439G>A (p.Asp147Asn)
NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu) rs1279299321
NM_001112741.2(KCNC1):c.479C>T (p.Ser160Phe)
NM_001112741.2(KCNC1):c.486T>G (p.Asp162Glu)
NM_001112741.2(KCNC1):c.487G>A (p.Gly163Ser) rs570508576
NM_001112741.2(KCNC1):c.497G>A (p.Gly166Asp) rs1848768219
NM_001112741.2(KCNC1):c.499G>T (p.Gly167Cys) rs1274575581
NM_001112741.2(KCNC1):c.500G>A (p.Gly167Asp) rs780758127
NM_001112741.2(KCNC1):c.512G>A (p.Arg171His)
NM_001112741.2(KCNC1):c.526A>T (p.Ile176Phe)
NM_001112741.2(KCNC1):c.528C>G (p.Ile176Met)
NM_001112741.2(KCNC1):c.535C>T (p.Leu179Phe)
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg) rs1848768884
NM_001112741.2(KCNC1):c.554C>T (p.Ser185Leu) rs1565152898
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys) rs1027286161
NM_001112741.2(KCNC1):c.594C>G (p.Phe198Leu)
NM_001112741.2(KCNC1):c.611T>C (p.Ile204Thr) rs1554991304
NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)
NM_001112741.2(KCNC1):c.640C>A (p.Arg214Ser)
NM_001112741.2(KCNC1):c.640C>T (p.Arg214Cys) rs772042572
NM_001112741.2(KCNC1):c.641G>A (p.Arg214His)
NM_001112741.2(KCNC1):c.649C>T (p.Pro217Ser)
NM_001112741.2(KCNC1):c.655G>A (p.Val219Met)
NM_001112741.2(KCNC1):c.665C>T (p.Thr222Met)
NM_001112741.2(KCNC1):c.679G>A (p.Val227Ile) rs1590106427
NM_001112741.2(KCNC1):c.683G>A (p.Arg228His) rs200873319
NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro) rs200873319
NM_001112741.2(KCNC1):c.68G>A (p.Arg23His) rs1158193192
NM_001112741.2(KCNC1):c.692C>T (p.Thr231Met) rs1554991314
NM_001112741.2(KCNC1):c.700C>T (p.Arg234Cys)
NM_001112741.2(KCNC1):c.702C>G (p.Arg234=) rs1849232973
NM_001112741.2(KCNC1):c.706T>C (p.Tyr236His) rs1849232996
NM_001112741.2(KCNC1):c.707A>G (p.Tyr236Cys)
NM_001112741.2(KCNC1):c.710G>T (p.Arg237Leu)
NM_001112741.2(KCNC1):c.71C>G (p.Ser24Trp)
NM_001112741.2(KCNC1):c.722C>G (p.Thr241Arg)
NM_001112741.2(KCNC1):c.728C>A (p.Ala243Asp)
NM_001112741.2(KCNC1):c.742A>G (p.Ile248Val)
NM_001112741.2(KCNC1):c.74C>T (p.Thr25Ile)
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys) rs1849234046
NM_001112741.2(KCNC1):c.788G>A (p.Arg263His) rs775163829
NM_001112741.2(KCNC1):c.793A>G (p.Ile265Val)
NM_001112741.2(KCNC1):c.805A>G (p.Asn269Asp)
NM_001112741.2(KCNC1):c.859C>A (p.Leu287Met) rs1849234887
NM_001112741.2(KCNC1):c.90C>A (p.Pro30=) rs1848762536
NM_001112741.2(KCNC1):c.916G>A (p.Val306Met) rs369830206
NM_001112741.2(KCNC1):c.916G>T (p.Val306Leu) rs369830206
NM_001112741.2(KCNC1):c.91G>A (p.Gly31Ser) rs2133774003
NM_001112741.2(KCNC1):c.958del (p.Arg320fs) rs2133805185
NM_001112741.2(KCNC1):c.983T>C (p.Phe328Ser)
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr) rs1268255256
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter) rs1560020073
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys) rs61735306
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile) rs1168773849
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile) rs1168773849
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro)
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe) rs1727416167
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe) rs1483914626
NM_001122752.2(SERPINI1):c.1135C>T (p.Leu379Phe)
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr) rs1560020646
NM_001122752.2(SERPINI1):c.1157-10A>G
NM_001122752.2(SERPINI1):c.1157G>A (p.Gly386Asp)
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu) rs1712477543
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile) rs1370761997
NM_001122752.2(SERPINI1):c.1178G>A (p.Arg393Gln)
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr) rs761969364
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser) rs2108576523
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln) rs777674608
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?) rs2108576541
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr) rs2108556293
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser) rs2108556315
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)
NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu)
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val) rs1727418833
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr) rs1577418542
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn) rs1577418551
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly) rs369596299
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp) rs1445299347
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)
NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly)
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg) rs2108556439
NM_001122752.2(SERPINI1):c.251-1G>C
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)
NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile)
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe) rs1727464670
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val) rs1727465258
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile) rs2108556179
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe) rs2108557115
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu) rs61735308
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu) rs1727467568
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)
NM_001122752.2(SERPINI1):c.364G>A (p.Glu122Lys)
NM_001122752.2(SERPINI1):c.381G>A (p.Met127Ile)
NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg)
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter)
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val) rs1727411590
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe) rs567043099
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys) rs759200368
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter) rs1727473660
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val) rs2108557247
NM_001122752.2(SERPINI1):c.474C>A (p.Asn158Lys)
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val) rs1329426448
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile) rs1553774731
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn) rs1453020878
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser) rs1727409437
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val) rs1307589619
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala) rs577994777
NM_001122752.2(SERPINI1):c.543T>G (p.Ile181Met)
NM_001122752.2(SERPINI1):c.547G>A (p.Ala183Thr)
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr) rs1344969234
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser) rs566381455
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser) rs1443427135
NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala)
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser) rs778816229
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn)
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile) rs1296179457
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs) rs1727413504
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)
NM_001122752.2(SERPINI1):c.648G>A (p.Met216Ile)
NM_001122752.2(SERPINI1):c.664G>A (p.Glu222Lys)
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys) rs1727575153
NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp)
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr) rs2108559866
NM_001122752.2(SERPINI1):c.748G>A (p.Glu250Lys)
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val) rs1553774954
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly)
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu) rs1553774956
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro) rs1466251791
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser) rs2108559919
NM_001122752.2(SERPINI1):c.788C>T (p.Pro263Leu)
NM_001122752.2(SERPINI1):c.799C>G (p.Leu267Val)
NM_001122752.2(SERPINI1):c.809_835dup (p.Glu278_Trp279insLeuValLysAlaGlnLeuValGluGlu)
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val) rs2108559943
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys) rs2108559953
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys) rs1553774967
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)
NM_001122752.2(SERPINI1):c.853A>C (p.Lys285Gln)
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg) rs772141992
NM_001122752.2(SERPINI1):c.860A>T (p.Lys287Ile)
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)
NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=)
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)
NM_001122752.2(SERPINI1):c.882-3C>T
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys) rs2108567236
NM_001122752.2(SERPINI1):c.892G>C (p.Glu298Gln)
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys) rs1711680491
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn) rs2108567247
NM_001122752.2(SERPINI1):c.910A>G (p.Lys304Glu)
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala) rs756818970
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)
NM_001122752.2(SERPINI1):c.949A>G (p.Ile317Val)
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys) rs1711682663
NM_001122752.2(SERPINI1):c.971G>T (p.Gly324Val)
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu) rs2108567301
NM_001122752.2(SERPINI1):c.979+4A>C
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)
NM_001134407.3(GRIN2A):c.1008-3T>C
NM_001134407.3(GRIN2A):c.1012A>G (p.Met338Val) rs1453013171
NM_001134407.3(GRIN2A):c.1025C>A (p.Thr342Lys)
NM_001134407.3(GRIN2A):c.1028G>T (p.Trp343Leu) rs1231057100
NM_001134407.3(GRIN2A):c.1061G>A (p.Gly354Asp)
NM_001134407.3(GRIN2A):c.1069G>T (p.Val357Leu) rs78929970
NM_001134407.3(GRIN2A):c.106A>G (p.Ile36Val)
NM_001134407.3(GRIN2A):c.1079G>C (p.Arg360Thr)
NM_001134407.3(GRIN2A):c.1087G>A (p.Val363Met)
NM_001134407.3(GRIN2A):c.1088T>G (p.Val363Gly)
NM_001134407.3(GRIN2A):c.1108C>T (p.Arg370Trp)
NM_001134407.3(GRIN2A):c.1109G>A (p.Arg370Gln) rs2043683703
NM_001134407.3(GRIN2A):c.1128C>T (p.Gly376=) rs2042854084
NM_001134407.3(GRIN2A):c.1145C>T (p.Thr382Met)
NM_001134407.3(GRIN2A):c.1152C>G (p.Ser384Arg)
NM_001134407.3(GRIN2A):c.115A>T (p.Met39Leu) rs2142390680
NM_001134407.3(GRIN2A):c.1170G>T (p.Trp390Cys) rs1555496181
NM_001134407.3(GRIN2A):c.11T>C (p.Val4Ala) rs1596587600
NM_001134407.3(GRIN2A):c.1206T>G (p.Asp402Glu) rs2042851567
NM_001134407.3(GRIN2A):c.1213C>T (p.His405Tyr)
NM_001134407.3(GRIN2A):c.1222A>T (p.Ile408Phe)
NM_001134407.3(GRIN2A):c.1264_1308delinsGTCAAAGTTCCGTGGAAA (p.Ile422_Cys436delinsValLysValProTrpLys) rs1596494678
NM_001134407.3(GRIN2A):c.1265T>G (p.Ile422Arg)
NM_001134407.3(GRIN2A):c.1279G>A (p.Glu427Lys)
NM_001134407.3(GRIN2A):c.1281G>C (p.Glu427Asp)
NM_001134407.3(GRIN2A):c.1293G>C (p.Arg431Ser) rs771768582
NM_001134407.3(GRIN2A):c.1300G>A (p.Val434Met) rs2141369176
NM_001134407.3(GRIN2A):c.1310G>T (p.Arg437Leu)
NM_001134407.3(GRIN2A):c.1323A>C (p.Lys441Asn) rs903996899
NM_001134407.3(GRIN2A):c.1326C>G (p.Ile442Met) rs2042847762
NM_001134407.3(GRIN2A):c.1328+3G>A
NM_001134407.3(GRIN2A):c.1328+3G>C rs2042847551
NM_001134407.3(GRIN2A):c.1328+5G>A rs1596494606
NM_001134407.3(GRIN2A):c.1329C>T (p.Asn443=) rs779642527
NM_001134407.3(GRIN2A):c.1340A>C (p.Asn447Thr) rs367543145
NM_001134407.3(GRIN2A):c.1364G>C (p.Cys455Ser)
NM_001134407.3(GRIN2A):c.1367G>T (p.Cys456Phe) rs2141345759
NM_001134407.3(GRIN2A):c.137T>A (p.Val46Glu) rs2050238313
NM_001134407.3(GRIN2A):c.1382T>C (p.Ile461Thr) rs1567337914
NM_001134407.3(GRIN2A):c.1409C>G (p.Thr470Ser) rs752320310
NM_001134407.3(GRIN2A):c.1418T>C (p.Phe473Ser) rs2042667786
NM_001134407.3(GRIN2A):c.1418T>G (p.Phe473Cys) rs2042667786
NM_001134407.3(GRIN2A):c.1422T>G (p.Thr474=) rs905817094
NM_001134407.3(GRIN2A):c.1429C>G (p.Leu477Val) rs1285260219
NM_001134407.3(GRIN2A):c.1430T>C (p.Leu477Pro)
NM_001134407.3(GRIN2A):c.1432T>C (p.Tyr478His)
NM_001134407.3(GRIN2A):c.1433A>G (p.Tyr478Cys) rs2042667439
NM_001134407.3(GRIN2A):c.1442C>T (p.Thr481Ile)
NM_001134407.3(GRIN2A):c.1454A>G (p.His485Arg) rs2141345000
NM_001134407.3(GRIN2A):c.1457G>T (p.Gly486Val) rs2141344962
NM_001134407.3(GRIN2A):c.1471A>C (p.Asn491His)
NM_001134407.3(GRIN2A):c.1483G>A (p.Gly495Arg)
NM_001134407.3(GRIN2A):c.1489A>T (p.Ile497Phe) rs1596483730
NM_001134407.3(GRIN2A):c.1497+5G>C rs2042665872
NM_001134407.3(GRIN2A):c.1497+6T>C
NM_001134407.3(GRIN2A):c.1520T>C (p.Met507Thr)
NM_001134407.3(GRIN2A):c.1528G>T (p.Gly510Cys)
NM_001134407.3(GRIN2A):c.1538C>T (p.Thr513Ile) rs1064796950
NM_001134407.3(GRIN2A):c.1544A>G (p.Asn515Ser) rs2141343041
NM_001134407.3(GRIN2A):c.1549G>A (p.Glu517Lys) rs1555494686
NM_001134407.3(GRIN2A):c.1551A>C (p.Glu517Asp) rs2042659440
NM_001134407.3(GRIN2A):c.1565T>C (p.Val522Ala)
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
NM_001134407.3(GRIN2A):c.1595G>A (p.Gly532Glu)
NM_001134407.3(GRIN2A):c.1609G>T (p.Val537Phe)
NM_001134407.3(GRIN2A):c.1618A>G (p.Ser540Gly) rs2141342201
NM_001134407.3(GRIN2A):c.1699A>G (p.Ile567Val)
NM_001134407.3(GRIN2A):c.1715C>T (p.Ala572Val) rs2141325435
NM_001134407.3(GRIN2A):c.1751A>G (p.Tyr584Cys) rs1596476519
NM_001134407.3(GRIN2A):c.1777+3A>T rs2141325159
NM_001134407.3(GRIN2A):c.1777+6G>C rs76549675
NM_001134407.3(GRIN2A):c.1813A>G (p.Ile605Val)
NM_001134407.3(GRIN2A):c.1880G>A (p.Ser627Asn)
NM_001134407.3(GRIN2A):c.1908C>G (p.Phe636Leu)
NM_001134407.3(GRIN2A):c.190C>T (p.Pro64Ser) rs994256744
NM_001134407.3(GRIN2A):c.1915G>A (p.Val639Ile) rs2141312498
NM_001134407.3(GRIN2A):c.191C>G (p.Pro64Arg)
NM_001134407.3(GRIN2A):c.1923C>G (p.Phe641Leu)
NM_001134407.3(GRIN2A):c.1940C>G (p.Ala647Gly)
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser) rs2042447713
NM_001134407.3(GRIN2A):c.1970A>C (p.Glu657Ala) rs2042447316
NM_001134407.3(GRIN2A):c.197A>G (p.Asp66Gly)
NM_001134407.3(GRIN2A):c.1993C>G (p.Leu665Val)
NM_001134407.3(GRIN2A):c.1999G>A (p.Asp667Asn)
NM_001134407.3(GRIN2A):c.199G>A (p.Val67Met)
NM_001134407.3(GRIN2A):c.2008-6C>G rs2042305474
NM_001134407.3(GRIN2A):c.2014A>G (p.Arg672Gly) rs1555491685
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2045T>G (p.Phe682Cys)
NM_001134407.3(GRIN2A):c.2048G>A (p.Gly683Glu)
NM_001134407.3(GRIN2A):c.2063G>A (p.Gly688Glu)
NM_001134407.3(GRIN2A):c.2066G>A (p.Ser689Asn) rs932803191
NM_001134407.3(GRIN2A):c.208G>A (p.Val70Ile) rs764026892
NM_001134407.3(GRIN2A):c.2090A>G (p.Asn697Ser)
NM_001134407.3(GRIN2A):c.2095C>A (p.Pro699Thr)
NM_001134407.3(GRIN2A):c.2095C>G (p.Pro699Ala)
NM_001134407.3(GRIN2A):c.2102T>G (p.Met701Arg) rs2141294836
NM_001134407.3(GRIN2A):c.2117C>T (p.Thr706Ile)
NM_001134407.3(GRIN2A):c.2122T>G (p.Phe708Val)
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2157C>G (p.Ser719Arg) rs1482585408
NM_001134407.3(GRIN2A):c.2169-3C>T
NM_001134407.3(GRIN2A):c.2174T>C (p.Leu725Pro) rs1903139235
NM_001134407.3(GRIN2A):c.2177A>T (p.Asp726Val) rs2141231223
NM_001134407.3(GRIN2A):c.217C>A (p.Leu73Met) rs775422876
NM_001134407.3(GRIN2A):c.2184C>G (p.Phe728Leu) rs773358718
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2248A>G (p.Ile750Val)
NM_001134407.3(GRIN2A):c.2251G>A (p.Gly751Arg)
NM_001134407.3(GRIN2A):c.2263A>G (p.Ile755Val)
NM_001134407.3(GRIN2A):c.2290G>A (p.Ala764Thr)
NM_001134407.3(GRIN2A):c.2320C>A (p.Gln774Lys) rs1555488093
NM_001134407.3(GRIN2A):c.2356+2dup
NM_001134407.3(GRIN2A):c.2356G>A (p.Gly786Ser)
NM_001134407.3(GRIN2A):c.2378C>T (p.Thr793Ile) rs893189529
NM_001134407.3(GRIN2A):c.2386C>A (p.Leu796Ile)
NM_001134407.3(GRIN2A):c.2416G>C (p.Glu806Gln)
NM_001134407.3(GRIN2A):c.2419G>A (p.Val807Met)
NM_001134407.3(GRIN2A):c.2443G>C (p.Asp815His) rs2141150983
NM_001134407.3(GRIN2A):c.2445C>A (p.Asp815Glu) rs754929310
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2458G>A (p.Val820Ile)
NM_001134407.3(GRIN2A):c.2472G>A (p.Leu824=) rs1458581648
NM_001134407.3(GRIN2A):c.2494C>A (p.Leu832Ile) rs145495027
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser) rs1006328489
NM_001134407.3(GRIN2A):c.2516A>T (p.His839Leu)
NM_001134407.3(GRIN2A):c.2517C>A (p.His839Gln) rs769482103
NM_001134407.3(GRIN2A):c.2536C>T (p.Arg846Cys)
NM_001134407.3(GRIN2A):c.2537G>T (p.Arg846Leu)
NM_001134407.3(GRIN2A):c.2546T>G (p.Phe849Cys) rs1901086856
NM_001134407.3(GRIN2A):c.2547C>A (p.Phe849Leu)
NM_001134407.3(GRIN2A):c.2549C>T (p.Thr850Met) rs1060503230
NM_001134407.3(GRIN2A):c.2567G>A (p.Arg856Gln)
NM_001134407.3(GRIN2A):c.2567G>T (p.Arg856Leu)
NM_001134407.3(GRIN2A):c.2569C>A (p.Pro857Thr) rs1195869916
NM_001134407.3(GRIN2A):c.2575T>G (p.Leu859Val) rs1596382621
NM_001134407.3(GRIN2A):c.2595+5G>C rs1064794679
NM_001134407.3(GRIN2A):c.2596-13T>A
NM_001134407.3(GRIN2A):c.2606G>C (p.Ser869Thr)
NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del) rs766019656
NM_001134407.3(GRIN2A):c.2665G>A (p.Gly889Arg) rs1309768715
NM_001134407.3(GRIN2A):c.268A>G (p.Met90Val) rs2050232660
NM_001134407.3(GRIN2A):c.269T>A (p.Met90Lys)
NM_001134407.3(GRIN2A):c.2728A>G (p.Met910Val) rs2141137587
NM_001134407.3(GRIN2A):c.2744T>C (p.Met915Thr) rs1060503231
NM_001134407.3(GRIN2A):c.2749T>G (p.Ser917Ala) rs1060503232
NM_001134407.3(GRIN2A):c.2759G>C (p.Arg920Thr)
NM_001134407.3(GRIN2A):c.2769C>G (p.Asp923Glu)
NM_001134407.3(GRIN2A):c.2783G>T (p.Gly928Val) rs2141137106
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
NM_001134407.3(GRIN2A):c.2792T>C (p.Ile931Thr)
NM_001134407.3(GRIN2A):c.2816G>A (p.Gly939Glu)
NM_001134407.3(GRIN2A):c.281G>C (p.Arg94Pro)
NM_001134407.3(GRIN2A):c.2852G>A (p.Gly951Glu)
NM_001134407.3(GRIN2A):c.2884G>A (p.Glu962Lys)
NM_001134407.3(GRIN2A):c.2884G>C (p.Glu962Gln) rs765370528
NM_001134407.3(GRIN2A):c.2933A>T (p.Tyr978Phe) rs948782419
NM_001134407.3(GRIN2A):c.2940C>A (p.Phe980Leu)
NM_001134407.3(GRIN2A):c.2959A>G (p.Thr987Ala) rs2141135709
NM_001134407.3(GRIN2A):c.2962C>G (p.Leu988Val)
NM_001134407.3(GRIN2A):c.2970G>C (p.Glu990Asp)
NM_001134407.3(GRIN2A):c.2975A>G (p.Asn992Ser)
NM_001134407.3(GRIN2A):c.2995_2996insAGGTGT (p.Ala999delinsGluValSer)
NM_001134407.3(GRIN2A):c.2998G>A (p.Val1000Met) rs1596377028
NM_001134407.3(GRIN2A):c.2998G>C (p.Val1000Leu)
NM_001134407.3(GRIN2A):c.3017C>A (p.Ala1006Glu) rs200526162
NM_001134407.3(GRIN2A):c.3026G>A (p.Arg1009Lys) rs1900786503
NM_001134407.3(GRIN2A):c.3064C>G (p.Arg1022Gly)
NM_001134407.3(GRIN2A):c.3073T>A (p.Ser1025Thr) rs1596376846
NM_001134407.3(GRIN2A):c.3084G>C (p.Gln1028His) rs796052554
NM_001134407.3(GRIN2A):c.3109G>T (p.Ala1037Ser)
NM_001134407.3(GRIN2A):c.3116C>T (p.Ala1039Val) rs1900778341
NM_001134407.3(GRIN2A):c.311C>G (p.Thr104Arg) rs1596586938
NM_001134407.3(GRIN2A):c.3123T>A (p.Asn1041Lys) rs574425467
NM_001134407.3(GRIN2A):c.3126G>C (p.Arg1042Ser)
NM_001134407.3(GRIN2A):c.3128C>T (p.Thr1043Ile)
NM_001134407.3(GRIN2A):c.3131A>G (p.His1044Arg)
NM_001134407.3(GRIN2A):c.3166A>G (p.Met1056Val)
NM_001134407.3(GRIN2A):c.316C>G (p.Gln106Glu)
NM_001134407.3(GRIN2A):c.3176C>G (p.Ser1059Cys) rs772497745
NM_001134407.3(GRIN2A):c.3178G>A (p.Asp1060Asn) rs879255358
NM_001134407.3(GRIN2A):c.3193T>G (p.Ser1065Ala)
NM_001134407.3(GRIN2A):c.3198T>G (p.Asn1066Lys)
NM_001134407.3(GRIN2A):c.320A>C (p.Glu107Ala) rs2142388375
NM_001134407.3(GRIN2A):c.3215G>A (p.Arg1072Lys)
NM_001134407.3(GRIN2A):c.3216G>T (p.Arg1072Ser) rs767326993
NM_001134407.3(GRIN2A):c.3220C>G (p.Pro1074Ala) rs1900768310
NM_001134407.3(GRIN2A):c.3220C>T (p.Pro1074Ser) rs1900768310
NM_001134407.3(GRIN2A):c.3227A>G (p.Asn1076Ser)
NM_001134407.3(GRIN2A):c.323C>T (p.Ala108Val)
NM_001134407.3(GRIN2A):c.3245C>T (p.Thr1082Ile)
NM_001134407.3(GRIN2A):c.3249G>T (p.Lys1083Asn)
NM_001134407.3(GRIN2A):c.3250G>A (p.Asp1084Asn)
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)
NM_001134407.3(GRIN2A):c.3254A>G (p.Asn1085Ser) rs1900765657
NM_001134407.3(GRIN2A):c.3256T>C (p.Phe1086Leu)
NM_001134407.3(GRIN2A):c.325G>A (p.Val109Ile)
NM_001134407.3(GRIN2A):c.3263G>A (p.Arg1088Lys)
NM_001134407.3(GRIN2A):c.3268G>A (p.Val1090Met) rs1320797353
NM_001134407.3(GRIN2A):c.3269T>C (p.Val1090Ala) rs1596376431
NM_001134407.3(GRIN2A):c.3271G>A (p.Ala1091Thr) rs2141133924
NM_001134407.3(GRIN2A):c.3274T>G (p.Ser1092Ala)
NM_001134407.3(GRIN2A):c.3299A>G (p.Glu1100Gly)
NM_001134407.3(GRIN2A):c.3304G>A (p.Glu1102Lys) rs770546037
NM_001134407.3(GRIN2A):c.3316C>G (p.Leu1106Val) rs2141133580
NM_001134407.3(GRIN2A):c.3343G>C (p.Asp1115His) rs1006805133
NM_001134407.3(GRIN2A):c.3349A>T (p.Ile1117Phe)
NM_001134407.3(GRIN2A):c.3359T>G (p.Ile1120Arg)
NM_001134407.3(GRIN2A):c.3375G>C (p.Glu1125Asp) rs1177482891
NM_001134407.3(GRIN2A):c.3377C>T (p.Pro1126Leu) rs1230714956
NM_001134407.3(GRIN2A):c.3387C>G (p.His1129Gln)
NM_001134407.3(GRIN2A):c.3390A>C (p.Leu1130Phe) rs2141132738
NM_001134407.3(GRIN2A):c.3409G>A (p.Glu1137Lys) rs1372666082
NM_001134407.3(GRIN2A):c.3413A>G (p.Asn1138Ser) rs367543135
NM_001134407.3(GRIN2A):c.3446A>T (p.Asp1149Val)
NM_001134407.3(GRIN2A):c.3451T>C (p.Tyr1151His) rs1555482433
NM_001134407.3(GRIN2A):c.3457G>T (p.Asp1153Tyr) rs267604687
NM_001134407.3(GRIN2A):c.3460C>A (p.Pro1154Thr) rs1900742896
NM_001134407.3(GRIN2A):c.3464G>T (p.Ser1155Ile)
NM_001134407.3(GRIN2A):c.3465T>G (p.Ser1155Arg) rs2141131963
NM_001134407.3(GRIN2A):c.3475C>T (p.Arg1159Cys)
NM_001134407.3(GRIN2A):c.347T>A (p.Ile116Asn) rs2142388025
NM_001134407.3(GRIN2A):c.347T>G (p.Ile116Ser) rs2142388025
NM_001134407.3(GRIN2A):c.3480G>C (p.Lys1160Asn) rs1900740968
NM_001134407.3(GRIN2A):c.3482G>C (p.Gly1161Ala) rs1900740837
NM_001134407.3(GRIN2A):c.3485A>G (p.Asp1162Gly)
NM_001134407.3(GRIN2A):c.3500T>A (p.Met1167Lys)
NM_001134407.3(GRIN2A):c.3504C>G (p.Asn1168Lys)
NM_001134407.3(GRIN2A):c.3506G>A (p.Arg1169Gln) rs761399460
NM_001134407.3(GRIN2A):c.3515T>C (p.Leu1172Ser) rs1177807348
NM_001134407.3(GRIN2A):c.3525A>T (p.Glu1175Asp) rs1900735770
NM_001134407.3(GRIN2A):c.3526G>C (p.Glu1176Gln)
NM_001134407.3(GRIN2A):c.3539A>T (p.Asn1180Ile) rs972229279
NM_001134407.3(GRIN2A):c.3544G>A (p.Asp1182Asn) rs375160358
NM_001134407.3(GRIN2A):c.3556C>T (p.Leu1186Phe) rs763440308
NM_001134407.3(GRIN2A):c.3569A>T (p.His1190Leu)
NM_001134407.3(GRIN2A):c.3571T>C (p.Phe1191Leu)
NM_001134407.3(GRIN2A):c.358A>G (p.Thr120Ala) rs2050229149
NM_001134407.3(GRIN2A):c.3596C>T (p.Pro1199Leu)
NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)
NM_001134407.3(GRIN2A):c.3612C>G (p.Ser1204Arg)
NM_001134407.3(GRIN2A):c.3622C>T (p.Arg1208Trp)
NM_001134407.3(GRIN2A):c.3631_3633del (p.Ser1211del) rs769008155
NM_001134407.3(GRIN2A):c.3635C>T (p.Thr1212Met) rs1042202486
NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr) rs367543134
NM_001134407.3(GRIN2A):c.3659A>C (p.Asn1220Thr) rs1131691913
NM_001134407.3(GRIN2A):c.3665C>T (p.Pro1222Leu)
NM_001134407.3(GRIN2A):c.3668C>A (p.Thr1223Asn) rs770966136
NM_001134407.3(GRIN2A):c.367C>G (p.Pro123Ala) rs2050228811
NM_001134407.3(GRIN2A):c.368C>T (p.Pro123Leu) rs2050228721
NM_001134407.3(GRIN2A):c.3698C>A (p.Pro1233His)
NM_001134407.3(GRIN2A):c.3711T>A (p.Asp1237Glu) rs1224957842
NM_001134407.3(GRIN2A):c.3713C>A (p.Ala1238Asp)
NM_001134407.3(GRIN2A):c.3737A>G (p.Tyr1246Cys) rs779437393
NM_001134407.3(GRIN2A):c.3785C>T (p.Thr1262Ile) rs587780351
NM_001134407.3(GRIN2A):c.3796G>T (p.Val1266Phe) rs758615952
NM_001134407.3(GRIN2A):c.3804G>T (p.Gln1268His) rs1303683757
NM_001134407.3(GRIN2A):c.3814G>A (p.Ala1272Thr)
NM_001134407.3(GRIN2A):c.3820A>G (p.Asn1274Asp) rs1567275934
NM_001134407.3(GRIN2A):c.3821A>G (p.Asn1274Ser)
NM_001134407.3(GRIN2A):c.3833A>T (p.Gln1278Leu)
NM_001134407.3(GRIN2A):c.3838C>A (p.Gln1280Lys)
NM_001134407.3(GRIN2A):c.3848A>G (p.Lys1283Arg) rs1900705371
NM_001134407.3(GRIN2A):c.3872C>A (p.Ser1291Tyr)
NM_001134407.3(GRIN2A):c.3877G>T (p.Asp1293Tyr) rs778230379
NM_001134407.3(GRIN2A):c.3884T>A (p.Ile1295Asn)
NM_001134407.3(GRIN2A):c.3889G>A (p.Asp1297Asn) rs1431125566
NM_001134407.3(GRIN2A):c.38C>G (p.Pro13Arg) rs367543131
NM_001134407.3(GRIN2A):c.3902A>G (p.Glu1301Gly)
NM_001134407.3(GRIN2A):c.3919C>A (p.Pro1307Thr)
NM_001134407.3(GRIN2A):c.3926G>A (p.Arg1309Gln)
NM_001134407.3(GRIN2A):c.3928A>C (p.Ser1310Arg)
NM_001134407.3(GRIN2A):c.3936C>A (p.Ser1312Arg) rs267604685
NM_001134407.3(GRIN2A):c.3940A>G (p.Lys1314Glu)
NM_001134407.3(GRIN2A):c.3976G>C (p.Gly1326Arg)
NM_001134407.3(GRIN2A):c.4000A>G (p.Ser1334Gly)
NM_001134407.3(GRIN2A):c.4030T>C (p.Phe1344Leu) rs2141127334
NM_001134407.3(GRIN2A):c.4031T>C (p.Phe1344Ser)
NM_001134407.3(GRIN2A):c.4032C>A (p.Phe1344Leu)
NM_001134407.3(GRIN2A):c.4084A>G (p.Thr1362Ala) rs77282679
NM_001134407.3(GRIN2A):c.4085C>A (p.Thr1362Asn)
NM_001134407.3(GRIN2A):c.4089C>T (p.Ser1363=)
NM_001134407.3(GRIN2A):c.4117G>C (p.Asp1373His)
NM_001134407.3(GRIN2A):c.4126C>G (p.Arg1376Gly) rs1426934537
NM_001134407.3(GRIN2A):c.4131G>C (p.Leu1377Phe)
NM_001134407.3(GRIN2A):c.414+5G>A rs2142387204
NM_001134407.3(GRIN2A):c.4153G>A (p.Asp1385Asn) rs1900682901
NM_001134407.3(GRIN2A):c.4157C>T (p.Pro1386Leu) rs1277391984
NM_001134407.3(GRIN2A):c.4165C>T (p.His1389Tyr) rs2141125985
NM_001134407.3(GRIN2A):c.4167C>G (p.His1389Gln) rs779614780
NM_001134407.3(GRIN2A):c.4183G>A (p.Ala1395Thr)
NM_001134407.3(GRIN2A):c.418C>A (p.Pro140Thr) rs776317814
NM_001134407.3(GRIN2A):c.4198T>C (p.Tyr1400His)
NM_001134407.3(GRIN2A):c.4201C>T (p.Leu1401Phe)
NM_001134407.3(GRIN2A):c.4208C>T (p.Ser1403Leu) rs1456715393
NM_001134407.3(GRIN2A):c.4219T>G (p.Ser1407Ala)
NM_001134407.3(GRIN2A):c.4229C>T (p.Ser1410Leu)
NM_001134407.3(GRIN2A):c.4235G>C (p.Cys1412Ser) rs1900675462
NM_001134407.3(GRIN2A):c.4247G>C (p.Ser1416Thr) rs377712891
NM_001134407.3(GRIN2A):c.4249C>T (p.Arg1417Trp) rs369508378
NM_001134407.3(GRIN2A):c.4262A>T (p.Asp1421Val)
NM_001134407.3(GRIN2A):c.4271T>C (p.Ile1424Thr)
NM_001134407.3(GRIN2A):c.4320_4324del (p.Thr1441fs) rs1900666405
NM_001134407.3(GRIN2A):c.4325C>G (p.Pro1442Arg)
NM_001134407.3(GRIN2A):c.4328G>A (p.Arg1443Lys) rs2141124724
NM_001134407.3(GRIN2A):c.4357G>A (p.Val1453Met) rs201707833
NM_001134407.3(GRIN2A):c.4367A>G (p.Lys1456Arg)
NM_001134407.3(GRIN2A):c.4372C>T (p.Pro1458Ser)
NM_001134407.3(GRIN2A):c.4373C>G (p.Pro1458Arg) rs933017490
NM_001134407.3(GRIN2A):c.4373C>T (p.Pro1458Leu)
NM_001134407.3(GRIN2A):c.4389T>G (p.Asp1463Glu) rs748047572
NM_001134407.3(GRIN2A):c.4393del (p.Ter1465LysextTer?) rs2141124456
NM_001134407.3(GRIN2A):c.454C>G (p.Gln152Glu) rs1555455829
NM_001134407.3(GRIN2A):c.456G>T (p.Gln152His)
NM_001134407.3(GRIN2A):c.476T>C (p.Leu159Pro) rs1555455805
NM_001134407.3(GRIN2A):c.483C>G (p.Ile161Met)
NM_001134407.3(GRIN2A):c.499T>C (p.Trp167Arg)
NM_001134407.3(GRIN2A):c.49G>A (p.Val17Ile) rs2050242807
NM_001134407.3(GRIN2A):c.521C>A (p.Thr174Asn)
NM_001134407.3(GRIN2A):c.550A>G (p.Ile184Val)
NM_001134407.3(GRIN2A):c.55C>T (p.Arg19Cys) rs768469157
NM_001134407.3(GRIN2A):c.56G>C (p.Arg19Pro)
NM_001134407.3(GRIN2A):c.586G>C (p.Val196Leu)
NM_001134407.3(GRIN2A):c.586G>T (p.Val196Leu) rs901580617
NM_001134407.3(GRIN2A):c.611T>A (p.Ile204Asn)
NM_001134407.3(GRIN2A):c.613_614insACTGCCTCA (p.Ile204_Thr205insAsnCysLeu)
NM_001134407.3(GRIN2A):c.634G>A (p.Asp212Asn) rs1396813794
NM_001134407.3(GRIN2A):c.637G>A (p.Ala213Thr) rs2044765102
NM_001134407.3(GRIN2A):c.63G>A (p.Pro21=) rs1060504865
NM_001134407.3(GRIN2A):c.664A>G (p.Ile222Val)
NM_001134407.3(GRIN2A):c.665T>C (p.Ile222Thr)
NM_001134407.3(GRIN2A):c.689A>T (p.Tyr230Phe) rs996900968
NM_001134407.3(GRIN2A):c.68C>A (p.Pro23Gln) rs969233060
NM_001134407.3(GRIN2A):c.712C>T (p.Leu238Phe)
NM_001134407.3(GRIN2A):c.72C>A (p.Ser24Arg) rs781722466
NM_001134407.3(GRIN2A):c.730C>G (p.Arg244Gly)
NM_001134407.3(GRIN2A):c.734C>G (p.Ser245Cys)
NM_001134407.3(GRIN2A):c.824G>A (p.Gly275Glu) rs2044759670
NM_001134407.3(GRIN2A):c.827T>A (p.Leu276His)
NM_001134407.3(GRIN2A):c.827T>C (p.Leu276Pro) rs2044759550
NM_001134407.3(GRIN2A):c.82_84del (p.Glu28del) rs767188122
NM_001134407.3(GRIN2A):c.854A>C (p.Asp285Ala) rs1016685456
NM_001134407.3(GRIN2A):c.859A>G (p.Ser287Gly) rs1555455615
NM_001134407.3(GRIN2A):c.861C>A (p.Ser287Arg)
NM_001134407.3(GRIN2A):c.883G>C (p.Gly295Arg) rs568484876
NM_001134407.3(GRIN2A):c.886A>G (p.Ile296Val) rs953400144
NM_001134407.3(GRIN2A):c.890G>A (p.Gly297Asp) rs775591257
NM_001134407.3(GRIN2A):c.890G>C (p.Gly297Ala)
NM_001134407.3(GRIN2A):c.89G>A (p.Gly30Asp) rs1567354651
NM_001134407.3(GRIN2A):c.904G>C (p.Ala302Pro)
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser) rs901717931
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys) rs1596344343
NM_001134407.3(GRIN2A):c.92C>T (p.Pro31Leu) rs2050239798
NM_001134407.3(GRIN2A):c.932C>A (p.Ser311Tyr)
NM_001134407.3(GRIN2A):c.932C>T (p.Ser311Phe) rs754698963
NM_001134407.3(GRIN2A):c.934T>C (p.Tyr312His) rs2044756352
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp) rs2044756352
NM_001134407.3(GRIN2A):c.937A>C (p.Ile313Leu) rs1465063447
NM_001134407.3(GRIN2A):c.952G>A (p.Ala318Thr) rs1567186996
NM_001134407.3(GRIN2A):c.967C>A (p.Gln323Lys)
NM_001134407.3(GRIN2A):c.968A>G (p.Gln323Arg) rs2044755009
NM_001134407.3(GRIN2A):c.970A>G (p.Met324Val) rs1596344233
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg)
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn)
NM_001161352.2(KCNMA1):c.1105A>T (p.Met369Leu) rs2153875624
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys)
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr) rs767099267
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro) rs767099267
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr) rs2097249003
NM_001161352.2(KCNMA1):c.1171A>G (p.Ile391Val) rs1402453017
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val)
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys)
NM_001161352.2(KCNMA1):c.1229T>C (p.Ile410Thr) rs2153792409
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly)
NM_001161352.2(KCNMA1):c.12_20dup (p.Gly10_Ser11insGlyGlyGly)
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys)
NM_001161352.2(KCNMA1):c.132_143dup (p.Ser60_Val61insSerSerSerSer)
NM_001161352.2(KCNMA1):c.1334+3A>G rs2153792200
NM_001161352.2(KCNMA1):c.1335C>T (p.Asn445=)
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val) rs2096695305
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro)
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg)
NM_001161352.2(KCNMA1):c.135CTCTTC[3] (p.Ser60_Val61insSerSer)
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) rs794726903
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly)
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile)
NM_001161352.2(KCNMA1):c.1441-7G>T
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup) rs751901610
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer)
NM_001161352.2(KCNMA1):c.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer)
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu) rs1381424078
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu) rs2096653786
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup) rs2093907468
NM_001161352.2(KCNMA1):c.1515T>A (p.Asn505Lys)
NM_001161352.2(KCNMA1):c.1550C>T (p.Pro517Leu)
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe) rs1483499989
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer)
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr)
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg)
NM_001161352.2(KCNMA1):c.1594G>A (p.Ala532Thr)
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer) rs780558929
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu)
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala)
NM_001161352.2(KCNMA1):c.161C>T (p.Ser54Phe)
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr) rs974940310
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del) rs1015011962
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del) rs1491384967
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup) rs1491384967
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr) rs2153710128
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile)
NM_001161352.2(KCNMA1):c.1716T>A (p.Leu572=) rs1352985094
NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val)
NM_001161352.2(KCNMA1):c.1750-3T>C rs369035808
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=)
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro) rs2093880726
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe)
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala) rs2094532158
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp)
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) rs768769748
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu) rs768769748
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu) rs200668674
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg) rs2094530696
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile) rs1440636763
NM_001161352.2(KCNMA1):c.1860-3C>T
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp)
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln)
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu) rs2153527454
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg) rs1555142864
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val)
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys)
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala) rs1409251473
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn)
NM_001161352.2(KCNMA1):c.1928G>T (p.Arg643Leu) rs2093602876
NM_001161352.2(KCNMA1):c.1929-6G>A rs2092525713
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=) rs1064797145
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val) rs2092524960
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) rs200013065
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu) rs200013065
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu) rs2092523707
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met)
NM_001161352.2(KCNMA1):c.19_33dup (p.Ser11_Ser12insGlyGlyGlyGlySer)
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val)
NM_001161352.2(KCNMA1):c.2053A>G (p.Thr685Ala) rs1449813631
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser)
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val) rs2153454278
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser) rs2153454235
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr) rs2090878635
NM_001161352.2(KCNMA1):c.211A>G (p.Ile71Val)
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg) rs2093876319
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile) rs1464796627
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) rs781228418
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu)
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys)
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu)
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln) rs200676185
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr)
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu)
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn) rs976855600
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val)
NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg)
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile) rs2152988834
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr)
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu) rs2152988719
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly)
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe) rs2152988601
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr)
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg) rs780661063
NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn)
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr)
NM_001161352.2(KCNMA1):c.2485A>G (p.Thr829Ala)
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val) rs2065356454
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile)
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val)
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser) rs2154572127
NM_001161352.2(KCNMA1):c.2545G>A (p.Asp849Asn)
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) rs147369374
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) rs199681253
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val)
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe) rs2152943139
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg) rs2065325262
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu)
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser)
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu) rs762661695
NM_001161352.2(KCNMA1):c.2709T>C (p.Pro903=)
NM_001161352.2(KCNMA1):c.2710-3A>T rs1214940006
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser) rs2063511193
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg) rs201192736
NM_001161352.2(KCNMA1):c.2783C>T (p.Ala928Val) rs2152885647
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser)
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro) rs2152885532
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe)
NM_001161352.2(KCNMA1):c.2791A>G (p.Asn931Asp)
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser)
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr)
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del) rs1163075445
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer)
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val) rs762347754
NM_001161352.2(KCNMA1):c.2873G>T (p.Ser958Ile) rs2152884880
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile)
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser)
NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly)
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe)
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg)
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala)
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg)
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg) rs763598041
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val)
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del) rs2093871879
NM_001161352.2(KCNMA1):c.3016+16_3016+17inv
NM_001161352.2(KCNMA1):c.3016+6G>A rs760003715
NM_001161352.2(KCNMA1):c.3017T>C (p.Val1006Ala)
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg) rs2049487457
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp)
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met)
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=) rs2093904313
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup) rs1163075445
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe)
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val)
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile)
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val) rs2152363692
NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met) rs915080941
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met)
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) rs764468883
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) rs752334052
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del)
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His)
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile) rs769712220
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu) rs1208962527
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser)
NM_001161352.2(KCNMA1):c.3286G>A (p.Asp1096Asn)
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys) rs2151872034
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His)
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val)
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe) rs2151871204
NM_001161352.2(KCNMA1):c.334A>G (p.Lys112Glu)
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn) rs748112495
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp)
NM_001161352.2(KCNMA1):c.3440C>A (p.Thr1147Asn)
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile) rs1253143924
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln) rs2151796883
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala)
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys) rs2037618919
NM_001161352.2(KCNMA1):c.349G>A (p.Val117Met) rs1257184004
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu)
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del) rs2093901062
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup) rs2093901062
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
NM_001161352.2(KCNMA1):c.34_54dup (p.Gly18_Gly19insSerGlyGlyGlyGlyGlyGly)
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly) rs2154572103
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp)
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg) rs549360933
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr) rs2151707984
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) rs1589551484
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu)
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg)
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys)
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile)
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe) rs2037569843
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) rs1476399505
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg) rs1390486916
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr)
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe) rs2154572100
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala)
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser) rs1564710775
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter) rs769151229
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys)
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp) rs201703516
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr) rs1313181359
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly) rs199766376
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser) rs1246413912
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp) rs2093865429
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter) rs199569326
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del) rs1278021902
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met) rs2154572092
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA
NM_001161352.2(KCNMA1):c.378+4A>T
NM_001161352.2(KCNMA1):c.378+5C>A rs757766830
NM_001161352.2(KCNMA1):c.378+5C>G rs757766830
NM_001161352.2(KCNMA1):c.389A>G (p.Lys130Arg)
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys)
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys) rs767525618
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His) rs1171292177
NM_001161352.2(KCNMA1):c.418G>A (p.Gly140Ser)
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val) rs1566617381
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr)
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn)
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp) rs2154465169
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp) rs896386800
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp)
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val)
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met) rs2096373042
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala)
NM_001161352.2(KCNMA1):c.458C>T (p.Ala153Val)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) rs142858967
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile)
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu)
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser)
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys)
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met)
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg) rs2096371606
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr) rs2154465065
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile)
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) rs2096371289
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly)
NM_001161352.2(KCNMA1):c.541G>A (p.Val181Ile)
NM_001161352.2(KCNMA1):c.559C>G (p.Leu187Val) rs2059603910
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg) rs2154572188
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup) rs1350200278
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer)
NM_001161352.2(KCNMA1):c.568G>A (p.Gly190Ser)
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser)
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val)
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr) rs2154127879
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) rs1598200324
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser)
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile) rs2098835683
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val) rs7921386
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser)
NM_001161352.2(KCNMA1):c.68T>A (p.Leu23His)
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp)
NM_001161352.2(KCNMA1):c.700A>T (p.Ile234Phe) rs2154124891
NM_001161352.2(KCNMA1):c.712G>A (p.Asp238Asn)
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln)
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys) rs2098818815
NM_001161352.2(KCNMA1):c.761C>T (p.Thr254Met)
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg) rs2098818535
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe) rs2097580642
NM_001161352.2(KCNMA1):c.868A>C (p.Asn290His)
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met)
NM_001161352.2(KCNMA1):c.884+6A>T rs2097580351
NM_001161352.2(KCNMA1):c.88C>T (p.His30Tyr)
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser) rs1343575385
NM_001161352.2(KCNMA1):c.960+5_960+8dup
NM_001161352.2(KCNMA1):c.97C>T (p.His33Tyr) rs2093891400
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg) rs1037878155
NM_001242896.3(DEPDC5):c.1018G>T (p.Val340Leu)
NM_001242896.3(DEPDC5):c.1022G>T (p.Gly341Val)
NM_001242896.3(DEPDC5):c.1036G>A (p.Asp346Asn) rs372461930
NM_001242896.3(DEPDC5):c.1036G>C (p.Asp346His) rs372461930
NM_001242896.3(DEPDC5):c.1038C>G (p.Asp346Glu) rs1394753838
NM_001242896.3(DEPDC5):c.1055T>C (p.Leu352Pro)
NM_001242896.3(DEPDC5):c.1064A>G (p.Gln355Arg)
NM_001242896.3(DEPDC5):c.1066C>T (p.Arg356Trp)
NM_001242896.3(DEPDC5):c.1071G>A (p.Met357Ile)
NM_001242896.3(DEPDC5):c.1074A>G (p.Ile358Met) rs1161069560
NM_001242896.3(DEPDC5):c.1081+4A>G rs757563918
NM_001242896.3(DEPDC5):c.1111G>A (p.Glu371Lys)
NM_001242896.3(DEPDC5):c.1118C>A (p.Pro373Gln) rs2148649494
NM_001242896.3(DEPDC5):c.1123C>T (p.His375Tyr)
NM_001242896.3(DEPDC5):c.1124A>G (p.His375Arg) rs748422973
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
NM_001242896.3(DEPDC5):c.1142A>G (p.Lys381Arg)
NM_001242896.3(DEPDC5):c.1143+6T>G rs746751382
NM_001242896.3(DEPDC5):c.1159G>A (p.Ala387Thr)
NM_001242896.3(DEPDC5):c.1159G>C (p.Ala387Pro)
NM_001242896.3(DEPDC5):c.1160C>T (p.Ala387Val) rs1054663967
NM_001242896.3(DEPDC5):c.1162C>T (p.Pro388Ser)
NM_001242896.3(DEPDC5):c.1168G>A (p.Asp390Asn)
NM_001242896.3(DEPDC5):c.1169A>G (p.Asp390Gly)
NM_001242896.3(DEPDC5):c.1174C>T (p.Arg392Cys) rs1028964149
NM_001242896.3(DEPDC5):c.1175G>A (p.Arg392His)
NM_001242896.3(DEPDC5):c.1175G>C (p.Arg392Pro)
NM_001242896.3(DEPDC5):c.1183G>A (p.Asp395Asn)
NM_001242896.3(DEPDC5):c.1190A>G (p.Tyr397Cys)
NM_001242896.3(DEPDC5):c.1202A>G (p.His401Arg)
NM_001242896.3(DEPDC5):c.1214A>G (p.His405Arg)
NM_001242896.3(DEPDC5):c.1218-13G>C
NM_001242896.3(DEPDC5):c.1223A>G (p.Tyr408Cys) rs1602010347
NM_001242896.3(DEPDC5):c.1234A>G (p.Ser412Gly)
NM_001242896.3(DEPDC5):c.1234_1235delinsTA (p.Ser412Tyr) rs1602010588
NM_001242896.3(DEPDC5):c.1247G>T (p.Cys416Phe) rs767747105
NM_001242896.3(DEPDC5):c.1249A>G (p.Asn417Asp) rs763518514
NM_001242896.3(DEPDC5):c.1249A>T (p.Asn417Tyr) rs763518514
NM_001242896.3(DEPDC5):c.1250A>G (p.Asn417Ser) rs2148665599
NM_001242896.3(DEPDC5):c.1253G>T (p.Ser418Ile) rs2087510561
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met) rs778795541
NM_001242896.3(DEPDC5):c.1287+15_1287+16del rs2148665907
NM_001242896.3(DEPDC5):c.1287+4G>C
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.3(DEPDC5):c.129C>A (p.His43Gln)
NM_001242896.3(DEPDC5):c.130C>T (p.Pro44Ser)
NM_001242896.3(DEPDC5):c.1312G>A (p.Gly438Ser)
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.1324+5G>A
NM_001242896.3(DEPDC5):c.1325-12T>A
NM_001242896.3(DEPDC5):c.1369G>A (p.Val457Ile)
NM_001242896.3(DEPDC5):c.1374T>A (p.Asp458Glu)
NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)
NM_001242896.3(DEPDC5):c.1382C>T (p.Ala461Val) rs2148707510
NM_001242896.3(DEPDC5):c.1384T>C (p.Tyr462His) rs2148707527
NM_001242896.3(DEPDC5):c.140A>G (p.Glu47Gly) rs2082129391
NM_001242896.3(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242896.3(DEPDC5):c.1414C>T (p.Pro472Ser)
NM_001242896.3(DEPDC5):c.1420C>T (p.Arg474Trp)
NM_001242896.3(DEPDC5):c.1432C>G (p.Leu478Val)
NM_001242896.3(DEPDC5):c.1436C>T (p.Thr479Ile) rs1602054541
NM_001242896.3(DEPDC5):c.1439C>T (p.Thr480Ile)
NM_001242896.3(DEPDC5):c.1441T>C (p.Cys481Arg) rs2148708095
NM_001242896.3(DEPDC5):c.1442G>T (p.Cys481Phe) rs2088176060
NM_001242896.3(DEPDC5):c.1443C>T (p.Cys481=)
NM_001242896.3(DEPDC5):c.1445+5T>G rs894048763
NM_001242896.3(DEPDC5):c.1445+6C>G rs1275802105
NM_001242896.3(DEPDC5):c.1446-3C>T
NM_001242896.3(DEPDC5):c.147-3C>G rs1398851556
NM_001242896.3(DEPDC5):c.1471A>C (p.Ser491Arg) rs2148758633
NM_001242896.3(DEPDC5):c.1490C>G (p.Ser497Cys)
NM_001242896.3(DEPDC5):c.14A>G (p.Lys5Arg)
NM_001242896.3(DEPDC5):c.1520C>G (p.Pro507Arg)
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His) rs372489331
NM_001242896.3(DEPDC5):c.1526G>T (p.Arg509Leu) rs372489331
NM_001242896.3(DEPDC5):c.1538C>T (p.Thr513Ile)
NM_001242896.3(DEPDC5):c.1549A>G (p.Arg517Gly)
NM_001242896.3(DEPDC5):c.1557G>C (p.Gln519His) rs2148759335
NM_001242896.3(DEPDC5):c.155T>A (p.Leu52His) rs2148027396
NM_001242896.3(DEPDC5):c.1566C>A (p.Asp522Glu)
NM_001242896.3(DEPDC5):c.1573T>C (p.Ser525Pro) rs369966456
NM_001242896.3(DEPDC5):c.1580G>T (p.Gly527Val)
NM_001242896.3(DEPDC5):c.1589C>T (p.Ala530Val) rs2148759614
NM_001242896.3(DEPDC5):c.1607C>A (p.Pro536Gln)
NM_001242896.3(DEPDC5):c.1640G>A (p.Ser547Asn) rs1483477312
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr) rs1483477312
NM_001242896.3(DEPDC5):c.1642T>C (p.Ser548Pro) rs2148760176
NM_001242896.3(DEPDC5):c.1647G>C (p.Leu549Phe) rs2148760235
NM_001242896.3(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242896.3(DEPDC5):c.1663C>G (p.Arg555Gly)
NM_001242896.3(DEPDC5):c.1666+6A>G rs1323258551
NM_001242896.3(DEPDC5):c.1681A>G (p.Met561Val)
NM_001242896.3(DEPDC5):c.1683G>C (p.Met561Ile)
NM_001242896.3(DEPDC5):c.1684A>G (p.Met562Val)
NM_001242896.3(DEPDC5):c.1697A>G (p.Gln566Arg)
NM_001242896.3(DEPDC5):c.170C>A (p.Ser57Tyr) rs2148027642
NM_001242896.3(DEPDC5):c.1729G>C (p.Val577Leu)
NM_001242896.3(DEPDC5):c.1749G>A (p.Met583Ile)
NM_001242896.3(DEPDC5):c.175A>G (p.Lys59Glu)
NM_001242896.3(DEPDC5):c.1766G>A (p.Gly589Asp) rs2148801784
NM_001242896.3(DEPDC5):c.1786G>A (p.Ala596Thr)
NM_001242896.3(DEPDC5):c.1795A>T (p.Asn599Tyr)
NM_001242896.3(DEPDC5):c.1811C>T (p.Ser604Phe)
NM_001242896.3(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242896.3(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242896.3(DEPDC5):c.1838A>G (p.Asn613Ser) rs2089445867
NM_001242896.3(DEPDC5):c.1858A>G (p.Thr620Ala)
NM_001242896.3(DEPDC5):c.1870G>C (p.Gly624Arg)
NM_001242896.3(DEPDC5):c.1871-8C>G
NM_001242896.3(DEPDC5):c.1871_1872delinsAT (p.Gly624Asp)
NM_001242896.3(DEPDC5):c.1877C>A (p.Ser626Tyr) rs2089694690
NM_001242896.3(DEPDC5):c.1890C>G (p.Ile630Met)
NM_001242896.3(DEPDC5):c.18C>T (p.Val6=)
NM_001242896.3(DEPDC5):c.1910G>A (p.Arg637Gln) rs751767527
NM_001242896.3(DEPDC5):c.1910G>T (p.Arg637Leu)
NM_001242896.3(DEPDC5):c.1921G>A (p.Ala641Thr)
NM_001242896.3(DEPDC5):c.193+15_193+18del rs2148028253
NM_001242896.3(DEPDC5):c.193+3A>G rs2148027911
NM_001242896.3(DEPDC5):c.193+5G>A rs2082316143
NM_001242896.3(DEPDC5):c.193+5G>T
NM_001242896.3(DEPDC5):c.1932A>C (p.Gln644His)
NM_001242896.3(DEPDC5):c.1934G>A (p.Gly645Asp) rs1342507454
NM_001242896.3(DEPDC5):c.1937G>A (p.Ser646Asn)
NM_001242896.3(DEPDC5):c.1939G>A (p.Gly647Arg)
NM_001242896.3(DEPDC5):c.1942C>A (p.Gln648Lys)
NM_001242896.3(DEPDC5):c.1948G>A (p.Asp650Asn)
NM_001242896.3(DEPDC5):c.1948G>T (p.Asp650Tyr)
NM_001242896.3(DEPDC5):c.1952C>A (p.Pro651Gln) rs768683931
NM_001242896.3(DEPDC5):c.1976T>A (p.Leu659Gln) rs2148822130
NM_001242896.3(DEPDC5):c.1987T>C (p.Tyr663His)
NM_001242896.3(DEPDC5):c.1991A>G (p.His664Arg)
NM_001242896.3(DEPDC5):c.1997C>T (p.Ala666Val) rs2089707651
NM_001242896.3(DEPDC5):c.1A>G (p.Met1Val) rs2147930155
NM_001242896.3(DEPDC5):c.2002G>A (p.Gly668Arg) rs2148822327
NM_001242896.3(DEPDC5):c.2006+17G>C
NM_001242896.3(DEPDC5):c.2007-13C>T
NM_001242896.3(DEPDC5):c.2007G>C (p.Arg669Ser)
NM_001242896.3(DEPDC5):c.2012G>A (p.Ser671Asn) rs2148829704
NM_001242896.3(DEPDC5):c.2015A>G (p.Asn672Ser)
NM_001242896.3(DEPDC5):c.2024A>G (p.Gln675Arg)
NM_001242896.3(DEPDC5):c.2032G>A (p.Asp678Asn)
NM_001242896.3(DEPDC5):c.2036G>A (p.Gly679Asp) rs865876158
NM_001242896.3(DEPDC5):c.2037C>T (p.Gly679=) rs2148830009
NM_001242896.3(DEPDC5):c.2055C>G (p.Phe685Leu) rs61731667
NM_001242896.3(DEPDC5):c.2056A>G (p.Ser686Gly)
NM_001242896.3(DEPDC5):c.2101G>A (p.Ala701Thr) rs2089821108
NM_001242896.3(DEPDC5):c.2102C>T (p.Ala701Val)
NM_001242896.3(DEPDC5):c.2103A>G (p.Ala701=)
NM_001242896.3(DEPDC5):c.2118G>C (p.Arg706Ser)
NM_001242896.3(DEPDC5):c.2120C>A (p.Thr707Asn)
NM_001242896.3(DEPDC5):c.2122C>G (p.Gln708Glu) rs2148924357
NM_001242896.3(DEPDC5):c.2147G>A (p.Ser716Asn)
NM_001242896.3(DEPDC5):c.2159C>T (p.Ser720Phe)
NM_001242896.3(DEPDC5):c.2164G>C (p.Asp722His)
NM_001242896.3(DEPDC5):c.2168C>G (p.Pro723Arg)
NM_001242896.3(DEPDC5):c.2171-11dup rs769116792
NM_001242896.3(DEPDC5):c.2177C>T (p.Thr726Ile) rs1569059850
NM_001242896.3(DEPDC5):c.2188C>T (p.Pro730Ser)
NM_001242896.3(DEPDC5):c.2199_2201dup (p.Pro734_Gly735insPro)
NM_001242896.3(DEPDC5):c.2200C>T (p.Pro734Ser) rs1348865744
NM_001242896.3(DEPDC5):c.2204G>A (p.Gly735Asp) rs2091055448
NM_001242896.3(DEPDC5):c.2210G>A (p.Cys737Tyr)
NM_001242896.3(DEPDC5):c.2222G>A (p.Gly741Glu)
NM_001242896.3(DEPDC5):c.224A>C (p.Gln75Pro) rs2082695082
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu) rs542384516
NM_001242896.3(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242896.3(DEPDC5):c.2350G>A (p.Asp784Asn) rs776885208
NM_001242896.3(DEPDC5):c.2354G>A (p.Arg785Lys) rs1346133779
NM_001242896.3(DEPDC5):c.2356A>G (p.Arg786Gly)
NM_001242896.3(DEPDC5):c.2366A>G (p.Asp789Gly)
NM_001242896.3(DEPDC5):c.2371G>A (p.Val791Met)
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001242896.3(DEPDC5):c.2422A>G (p.Met808Val) rs1555897260
NM_001242896.3(DEPDC5):c.2424G>T (p.Met808Ile)
NM_001242896.3(DEPDC5):c.2440A>G (p.Ile814Val)
NM_001242896.3(DEPDC5):c.2442A>G (p.Ile814Met)
NM_001242896.3(DEPDC5):c.2458C>A (p.Gln820Lys) rs2148968487
NM_001242896.3(DEPDC5):c.2464C>T (p.Pro822Ser) rs781677679
NM_001242896.3(DEPDC5):c.2465C>T (p.Pro822Leu)
NM_001242896.3(DEPDC5):c.2470C>T (p.Pro824Ser) rs1357973408
NM_001242896.3(DEPDC5):c.2471C>G (p.Pro824Arg) rs2148968635
NM_001242896.3(DEPDC5):c.2476G>T (p.Val826Phe) rs1468914738
NM_001242896.3(DEPDC5):c.2482C>A (p.Pro828Thr) rs200526736
NM_001242896.3(DEPDC5):c.2521G>A (p.Val841Met) rs1555899402
NM_001242896.3(DEPDC5):c.2554T>C (p.Tyr852His) rs181352850
NM_001242896.3(DEPDC5):c.2557T>G (p.Trp853Gly)
NM_001242896.3(DEPDC5):c.2558G>C (p.Trp853Ser)
NM_001242896.3(DEPDC5):c.2560C>G (p.Leu854Val) rs1602350218
NM_001242896.3(DEPDC5):c.2568G>C (p.Met856Ile)
NM_001242896.3(DEPDC5):c.256T>C (p.Tyr86His) rs752067925
NM_001242896.3(DEPDC5):c.2578T>C (p.Phe860Leu)
NM_001242896.3(DEPDC5):c.2581C>T (p.His861Tyr) rs2149004473
NM_001242896.3(DEPDC5):c.2583C>G (p.His861Gln)
NM_001242896.3(DEPDC5):c.2588T>C (p.Val863Ala) rs1254155768
NM_001242896.3(DEPDC5):c.2590A>G (p.Thr864Ala) rs752198928
NM_001242896.3(DEPDC5):c.2608A>G (p.Ile870Val) rs573955848
NM_001242896.3(DEPDC5):c.2621G>A (p.Arg874Gln) rs1602350746
NM_001242896.3(DEPDC5):c.2632A>C (p.Lys878Gln)
NM_001242896.3(DEPDC5):c.2633+5G>A rs2149004867
NM_001242896.3(DEPDC5):c.2650G>A (p.Ala884Thr)
NM_001242896.3(DEPDC5):c.2651C>T (p.Ala884Val) rs2149008615
NM_001242896.3(DEPDC5):c.2657T>C (p.Ile886Thr) rs2149008707
NM_001242896.3(DEPDC5):c.2659C>A (p.His887Asn) rs751284078
NM_001242896.3(DEPDC5):c.2660A>T (p.His887Leu)
NM_001242896.3(DEPDC5):c.2661C>A (p.His887Gln) rs1555899801
NM_001242896.3(DEPDC5):c.2663A>T (p.Tyr888Phe)
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile) rs2149008846
NM_001242896.3(DEPDC5):c.2674C>T (p.Leu892Phe)
NM_001242896.3(DEPDC5):c.2692G>T (p.Asp898Tyr) rs1421058201
NM_001242896.3(DEPDC5):c.2702T>C (p.Phe901Ser)
NM_001242896.3(DEPDC5):c.2707T>C (p.Ser903Pro)
NM_001242896.3(DEPDC5):c.2710T>G (p.Cys904Gly)
NM_001242896.3(DEPDC5):c.2715G>C (p.Trp905Cys) rs1261463857
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp) rs528863179
NM_001242896.3(DEPDC5):c.2735G>T (p.Arg912Leu)
NM_001242896.3(DEPDC5):c.2745G>T (p.Glu915Asp) rs373602490
NM_001242896.3(DEPDC5):c.2750A>G (p.Lys917Arg)
NM_001242896.3(DEPDC5):c.275C>G (p.Pro92Arg)
NM_001242896.3(DEPDC5):c.2767C>G (p.Gln923Glu) rs2149009626
NM_001242896.3(DEPDC5):c.2768A>G (p.Gln923Arg)
NM_001242896.3(DEPDC5):c.2801+19G>T
NM_001242896.3(DEPDC5):c.2808T>G (p.Ile936Met) rs2091642875
NM_001242896.3(DEPDC5):c.280G>T (p.Asp94Tyr) rs2082839289
NM_001242896.3(DEPDC5):c.2816T>C (p.Leu939Pro)
NM_001242896.3(DEPDC5):c.2823C>G (p.Phe941Leu) rs1555900811
NM_001242896.3(DEPDC5):c.2839C>A (p.Leu947Met)
NM_001242896.3(DEPDC5):c.2846T>C (p.Leu949Pro)
NM_001242896.3(DEPDC5):c.286A>T (p.Thr96Ser)
NM_001242896.3(DEPDC5):c.2872C>T (p.Arg958Cys)
NM_001242896.3(DEPDC5):c.2884G>C (p.Gly962Arg)
NM_001242896.3(DEPDC5):c.2924C>T (p.Ala975Val)
NM_001242896.3(DEPDC5):c.2934C>A (p.Asp978Glu)
NM_001242896.3(DEPDC5):c.2935G>A (p.Glu979Lys) rs2091651367
NM_001242896.3(DEPDC5):c.2937G>C (p.Glu979Asp) rs1602368020
NM_001242896.3(DEPDC5):c.2953G>A (p.Gly985Ser)
NM_001242896.3(DEPDC5):c.2963G>T (p.Arg988Leu)
NM_001242896.3(DEPDC5):c.2984G>A (p.Arg995His)
NM_001242896.3(DEPDC5):c.2986A>G (p.Ile996Val) rs2149024866
NM_001242896.3(DEPDC5):c.2989C>T (p.Arg997Cys) rs1555900981
NM_001242896.3(DEPDC5):c.3010C>T (p.Arg1004Cys)
NM_001242896.3(DEPDC5):c.3016A>T (p.Met1006Leu)
NM_001242896.3(DEPDC5):c.3029C>T (p.Thr1010Ile)
NM_001242896.3(DEPDC5):c.3031G>A (p.Ala1011Thr) rs764941727
NM_001242896.3(DEPDC5):c.3031G>T (p.Ala1011Ser) rs764941727
NM_001242896.3(DEPDC5):c.3036G>A (p.Met1012Ile)
NM_001242896.3(DEPDC5):c.3050T>C (p.Met1017Thr)
NM_001242896.3(DEPDC5):c.3056G>C (p.Gly1019Ala)
NM_001242896.3(DEPDC5):c.3085A>C (p.Thr1029Pro) rs537257402
NM_001242896.3(DEPDC5):c.3091C>T (p.Pro1031Ser)
NM_001242896.3(DEPDC5):c.3094C>T (p.Pro1032Ser) rs770979723
NM_001242896.3(DEPDC5):c.3097G>A (p.Val1033Met) rs376313159
NM_001242896.3(DEPDC5):c.3097G>C (p.Val1033Leu) rs376313159
NM_001242896.3(DEPDC5):c.3138G>T (p.Glu1046Asp) rs2149038350
NM_001242896.3(DEPDC5):c.3155+5G>A
NM_001242896.3(DEPDC5):c.3169C>A (p.Gln1057Lys)
NM_001242896.3(DEPDC5):c.3169C>G (p.Gln1057Glu) rs1602471069
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del) rs2149117083
NM_001242896.3(DEPDC5):c.3170A>C (p.Gln1057Pro) rs2092345185
NM_001242896.3(DEPDC5):c.3187G>C (p.Gly1063Arg) rs2149117292
NM_001242896.3(DEPDC5):c.3188G>A (p.Gly1063Asp) rs2149117311
NM_001242896.3(DEPDC5):c.3202G>C (p.Ala1068Pro) rs763158282
NM_001242896.3(DEPDC5):c.3206A>G (p.Gln1069Arg)
NM_001242896.3(DEPDC5):c.3209C>T (p.Ser1070Leu)
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp) rs753608617
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn) rs375884815
NM_001242896.3(DEPDC5):c.3223A>G (p.Ser1075Gly) rs376555106
NM_001242896.3(DEPDC5):c.3224G>A (p.Ser1075Asn) rs1399730598
NM_001242896.3(DEPDC5):c.3226G>A (p.Val1076Ile)
NM_001242896.3(DEPDC5):c.3235A>G (p.Thr1079Ala) rs878854278
NM_001242896.3(DEPDC5):c.3236C>T (p.Thr1079Ile)
NM_001242896.3(DEPDC5):c.3242C>T (p.Thr1081Ile) rs2092348833
NM_001242896.3(DEPDC5):c.3247A>G (p.Met1083Val)
NM_001242896.3(DEPDC5):c.3256C>G (p.Pro1086Ala)
NM_001242896.3(DEPDC5):c.3257C>A (p.Pro1086Gln)
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
NM_001242896.3(DEPDC5):c.3292C>G (p.Arg1098Gly) rs777509933
NM_001242896.3(DEPDC5):c.3295A>G (p.Ser1099Gly)
NM_001242896.3(DEPDC5):c.329G>T (p.Gly110Val)
NM_001242896.3(DEPDC5):c.3301C>T (p.Arg1101Cys)
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile) rs528786894
NM_001242896.3(DEPDC5):c.3319T>G (p.Phe1107Val)
NM_001242896.3(DEPDC5):c.3323A>G (p.Tyr1108Cys)
NM_001242896.3(DEPDC5):c.3326C>T (p.Pro1109Leu)
NM_001242896.3(DEPDC5):c.3329A>G (p.Gln1110Arg) rs1555909576
NM_001242896.3(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242896.3(DEPDC5):c.3331-11A>G
NM_001242896.3(DEPDC5):c.3340G>C (p.Asp1114His) rs1029839829
NM_001242896.3(DEPDC5):c.3347C>A (p.Thr1116Lys)
NM_001242896.3(DEPDC5):c.3353C>T (p.Thr1118Ile)
NM_001242896.3(DEPDC5):c.3355C>T (p.Pro1119Ser)
NM_001242896.3(DEPDC5):c.3366C>A (p.Asp1122Glu)
NM_001242896.3(DEPDC5):c.3380G>T (p.Gly1127Val) rs941078167
NM_001242896.3(DEPDC5):c.3392G>A (p.Gly1131Asp)
NM_001242896.3(DEPDC5):c.3400A>G (p.Met1134Val)
NM_001242896.3(DEPDC5):c.3401T>C (p.Met1134Thr)
NM_001242896.3(DEPDC5):c.3403G>A (p.Asp1135Asn) rs896871427
NM_001242896.3(DEPDC5):c.3412A>C (p.Asn1138His)
NM_001242896.3(DEPDC5):c.3416G>C (p.Ser1139Thr) rs2092816043
NM_001242896.3(DEPDC5):c.3422C>T (p.Thr1141Ile) rs926750227
NM_001242896.3(DEPDC5):c.3425T>C (p.Phe1142Ser) rs2092816186
NM_001242896.3(DEPDC5):c.3427G>A (p.Gly1143Arg) rs1479727000
NM_001242896.3(DEPDC5):c.3436C>G (p.Gln1146Glu)
NM_001242896.3(DEPDC5):c.3437A>G (p.Gln1146Arg) rs1555913525
NM_001242896.3(DEPDC5):c.3439A>C (p.Asn1147His) rs2092816522
NM_001242896.3(DEPDC5):c.3444A>G (p.Ile1148Met)
NM_001242896.3(DEPDC5):c.3455G>T (p.Gly1152Val) rs2149231484
NM_001242896.3(DEPDC5):c.3455_3457dup (p.Gly1152_Tyr1153insCys) rs2092816876
NM_001242896.3(DEPDC5):c.3457T>C (p.Tyr1153His)
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val) rs1419496771
NM_001242896.3(DEPDC5):c.347G>T (p.Arg116Leu) rs777623410
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.3486-12C>T
NM_001242896.3(DEPDC5):c.3493C>A (p.Gln1165Lys)
NM_001242896.3(DEPDC5):c.3509C>T (p.Ser1170Phe)
NM_001242896.3(DEPDC5):c.3550A>T (p.Met1184Leu)
NM_001242896.3(DEPDC5):c.3571G>A (p.Val1191Ile)
NM_001242896.3(DEPDC5):c.3571G>C (p.Val1191Leu) rs777200870
NM_001242896.3(DEPDC5):c.3578T>A (p.Leu1193Gln) rs2092931592
NM_001242896.3(DEPDC5):c.358A>T (p.Ser120Cys)
NM_001242896.3(DEPDC5):c.3590A>G (p.Gln1197Arg)
NM_001242896.3(DEPDC5):c.3596G>A (p.Gly1199Asp)
NM_001242896.3(DEPDC5):c.3613T>C (p.Phe1205Leu)
NM_001242896.3(DEPDC5):c.3614T>G (p.Phe1205Cys) rs2149256525
NM_001242896.3(DEPDC5):c.361T>G (p.Leu121Val) rs2148128852
NM_001242896.3(DEPDC5):c.3620G>C (p.Ser1207Thr) rs2092932829
NM_001242896.3(DEPDC5):c.363+6A>G rs933571182
NM_001242896.3(DEPDC5):c.3635A>G (p.His1212Arg)
NM_001242896.3(DEPDC5):c.3636C>G (p.His1212Gln) rs2092933328
NM_001242896.3(DEPDC5):c.363G>T (p.Leu121Phe) rs2082845017
NM_001242896.3(DEPDC5):c.3640T>G (p.Leu1214Val)
NM_001242896.3(DEPDC5):c.3663C>G (p.Ile1221Met)
NM_001242896.3(DEPDC5):c.3674C>T (p.Ala1225Val)
NM_001242896.3(DEPDC5):c.3679G>T (p.Ala1227Ser) rs2149256987
NM_001242896.3(DEPDC5):c.3682A>C (p.Ile1228Leu)
NM_001242896.3(DEPDC5):c.3693G>A (p.Met1231Ile) rs2092934953
NM_001242896.3(DEPDC5):c.3696+2dup
NM_001242896.3(DEPDC5):c.3697-13A>G
NM_001242896.3(DEPDC5):c.3703C>G (p.Leu1235Val) rs766933880
NM_001242896.3(DEPDC5):c.3709G>A (p.Glu1237Lys) rs2092986144
NM_001242896.3(DEPDC5):c.3725A>G (p.His1242Arg) rs750097398
NM_001242896.3(DEPDC5):c.3730T>C (p.Ser1244Pro)
NM_001242896.3(DEPDC5):c.3731C>G (p.Ser1244Cys) rs755768537
NM_001242896.3(DEPDC5):c.3745C>T (p.Arg1249Trp)
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys) rs2092987722
NM_001242896.3(DEPDC5):c.3760G>A (p.Gly1254Ser)
NM_001242896.3(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242896.3(DEPDC5):c.3776A>G (p.Lys1259Arg)
NM_001242896.3(DEPDC5):c.3799G>A (p.Asp1267Asn) rs1340279120
NM_001242896.3(DEPDC5):c.3799G>T (p.Asp1267Tyr) rs1340279120
NM_001242896.3(DEPDC5):c.3809C>T (p.Ala1270Val)
NM_001242896.3(DEPDC5):c.3821C>T (p.Pro1274Leu)
NM_001242896.3(DEPDC5):c.3823G>C (p.Ala1275Pro) rs1453526282
NM_001242896.3(DEPDC5):c.3833G>T (p.Trp1278Leu) rs1569185783
NM_001242896.3(DEPDC5):c.3839C>T (p.Thr1280Ile)
NM_001242896.3(DEPDC5):c.3852C>A (p.Asp1284Glu) rs773340826
NM_001242896.3(DEPDC5):c.3859G>T (p.Ala1287Ser) rs867268278
NM_001242896.3(DEPDC5):c.3875A>C (p.Lys1292Thr) rs1602677961
NM_001242896.3(DEPDC5):c.3876G>C (p.Lys1292Asn) rs1602677998
NM_001242896.3(DEPDC5):c.3884_3889del (p.Glu1295_Val1296del) rs2149294996
NM_001242896.3(DEPDC5):c.3886G>T (p.Val1296Leu) rs1569186162
NM_001242896.3(DEPDC5):c.3889G>T (p.Ala1297Ser)
NM_001242896.3(DEPDC5):c.3898G>A (p.Ala1300Thr) rs1395522861
NM_001242896.3(DEPDC5):c.3901G>C (p.Glu1301Gln) rs762142759
NM_001242896.3(DEPDC5):c.3907C>G (p.Leu1303Val)
NM_001242896.3(DEPDC5):c.3910G>T (p.Val1304Leu) rs750936617
NM_001242896.3(DEPDC5):c.3925C>T (p.Pro1309Ser)
NM_001242896.3(DEPDC5):c.3934C>T (p.Leu1312Phe) rs2093121640
NM_001242896.3(DEPDC5):c.3940C>T (p.Pro1314Ser) rs2093121770
NM_001242896.3(DEPDC5):c.3952A>C (p.Ser1318Arg) rs1602678715
NM_001242896.3(DEPDC5):c.397G>C (p.Glu133Gln) rs1341691013
NM_001242896.3(DEPDC5):c.3989T>A (p.Phe1330Tyr) rs2093123100
NM_001242896.3(DEPDC5):c.4008A>G (p.Gly1336=)
NM_001242896.3(DEPDC5):c.4009C>T (p.Arg1337Trp)
NM_001242896.3(DEPDC5):c.4013G>A (p.Ser1338Asn)
NM_001242896.3(DEPDC5):c.4034-4A>G rs2093485743
NM_001242896.3(DEPDC5):c.4042G>A (p.Val1348Ile) rs1380088913
NM_001242896.3(DEPDC5):c.4049A>T (p.Glu1350Val)
NM_001242896.3(DEPDC5):c.4058C>T (p.Thr1353Ile) rs1163140081
NM_001242896.3(DEPDC5):c.4076A>T (p.Asp1359Val)
NM_001242896.3(DEPDC5):c.4078G>A (p.Val1360Met)
NM_001242896.3(DEPDC5):c.4088G>A (p.Arg1363His)
NM_001242896.3(DEPDC5):c.4091C>T (p.Thr1364Ile)
NM_001242896.3(DEPDC5):c.4093G>A (p.Asp1365Asn) rs1191285429
NM_001242896.3(DEPDC5):c.4093G>T (p.Asp1365Tyr) rs1191285429
NM_001242896.3(DEPDC5):c.4108T>A (p.Cys1370Ser) rs771269120
NM_001242896.3(DEPDC5):c.411C>T (p.Ile137=)
NM_001242896.3(DEPDC5):c.4126G>A (p.Gly1376Ser) rs1555929990
NM_001242896.3(DEPDC5):c.413+5A>G
NM_001242896.3(DEPDC5):c.413+6T>C rs748450091
NM_001242896.3(DEPDC5):c.4131C>G (p.Asn1377Lys)
NM_001242896.3(DEPDC5):c.4136C>A (p.Ser1379Tyr) rs765244692
NM_001242896.3(DEPDC5):c.414-11_414-4del
NM_001242896.3(DEPDC5):c.414-3C>G
NM_001242896.3(DEPDC5):c.4144G>A (p.Ala1382Thr) rs2093488105
NM_001242896.3(DEPDC5):c.414A>G (p.Arg138=) rs200421648
NM_001242896.3(DEPDC5):c.4154A>C (p.Glu1385Ala) rs2149378618
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu) rs1555930038
NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro) rs1446980540
NM_001242896.3(DEPDC5):c.4183G>T (p.Ala1395Ser)
NM_001242896.3(DEPDC5):c.4204-3C>G rs2149397030
NM_001242896.3(DEPDC5):c.4210G>C (p.Gly1404Arg)
NM_001242896.3(DEPDC5):c.4228_4245del (p.Thr1410_Leu1415del)
NM_001242896.3(DEPDC5):c.422C>T (p.Ala141Val)
NM_001242896.3(DEPDC5):c.4235G>C (p.Cys1412Ser)
NM_001242896.3(DEPDC5):c.424G>A (p.Gly142Ser)
NM_001242896.3(DEPDC5):c.4252C>G (p.Pro1418Ala)
NM_001242896.3(DEPDC5):c.425_427dup (p.Gly142dup) rs761114750
NM_001242896.3(DEPDC5):c.4264G>A (p.Gly1422Arg) rs2093575232
NM_001242896.3(DEPDC5):c.4270T>G (p.Phe1424Val)
NM_001242896.3(DEPDC5):c.4282A>G (p.Ser1428Gly)
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn) rs766385762
NM_001242896.3(DEPDC5):c.4306C>A (p.Arg1436Ser)
NM_001242896.3(DEPDC5):c.431T>C (p.Leu144Pro)
NM_001242896.3(DEPDC5):c.4320C>T (p.Phe1440=)
NM_001242896.3(DEPDC5):c.4323C>G (p.Ile1441Met) rs2149397656
NM_001242896.3(DEPDC5):c.4333A>G (p.Ile1445Val)
NM_001242896.3(DEPDC5):c.4338C>G (p.Ser1446Arg)
NM_001242896.3(DEPDC5):c.4355G>A (p.Gly1452Asp)
NM_001242896.3(DEPDC5):c.4360G>A (p.Glu1454Lys) rs962190440
NM_001242896.3(DEPDC5):c.4364A>C (p.His1455Pro)
NM_001242896.3(DEPDC5):c.4367T>C (p.Leu1456Pro) rs1362296192
NM_001242896.3(DEPDC5):c.4370T>G (p.Phe1457Cys) rs2093577056
NM_001242896.3(DEPDC5):c.4376G>A (p.Ser1459Asn) rs1245607244
NM_001242896.3(DEPDC5):c.4403G>A (p.Arg1468Gln) rs780509997
NM_001242896.3(DEPDC5):c.4405A>G (p.Met1469Val) rs2093652593
NM_001242896.3(DEPDC5):c.4408C>T (p.His1470Tyr) rs1064795311
NM_001242896.3(DEPDC5):c.4410C>A (p.His1470Gln) rs372176746
NM_001242896.3(DEPDC5):c.4411C>T (p.Leu1471Phe) rs2149419770
NM_001242896.3(DEPDC5):c.4427T>C (p.Ile1476Thr) rs2093653111
NM_001242896.3(DEPDC5):c.4445T>C (p.Phe1482Ser) rs2149447579
NM_001242896.3(DEPDC5):c.4446T>G (p.Phe1482Leu)
NM_001242896.3(DEPDC5):c.445G>A (p.Glu149Lys) rs2084067532
NM_001242896.3(DEPDC5):c.4484C>G (p.Pro1495Arg) rs2093751685
NM_001242896.3(DEPDC5):c.4507A>G (p.Ile1503Val)
NM_001242896.3(DEPDC5):c.4520-2A>G rs1555942859
NM_001242896.3(DEPDC5):c.4520-37_4520-14del
NM_001242896.3(DEPDC5):c.4532T>G (p.Leu1511Arg)
NM_001242896.3(DEPDC5):c.4541C>T (p.Pro1514Leu) rs1294976211
NM_001242896.3(DEPDC5):c.454A>T (p.Met152Leu)
NM_001242896.3(DEPDC5):c.4553G>T (p.Arg1518Leu)
NM_001242896.3(DEPDC5):c.4559T>A (p.Phe1520Tyr) rs2093756441
NM_001242896.3(DEPDC5):c.4563_4568del (p.Gly1522_Gln1523del)
NM_001242896.3(DEPDC5):c.4568A>C (p.Gln1523Pro) rs2093756716
NM_001242896.3(DEPDC5):c.4568AGC[1] (p.Gln1524del) rs1296781205
NM_001242896.3(DEPDC5):c.4573C>T (p.Arg1525Trp) rs1223453056
NM_001242896.3(DEPDC5):c.4573CGG[5] (p.Arg1528_Asn1529insArg)
NM_001242896.3(DEPDC5):c.4576C>T (p.Arg1526Trp)
NM_001242896.3(DEPDC5):c.4579C>T (p.Arg1527Trp) rs2093757123
NM_001242896.3(DEPDC5):c.4586A>G (p.Asn1529Ser) rs773450879
NM_001242896.3(DEPDC5):c.458G>A (p.Cys153Tyr) rs2148328919
NM_001242896.3(DEPDC5):c.4592C>A (p.Thr1531Asn) rs1064794532
NM_001242896.3(DEPDC5):c.4595G>A (p.Ser1532Asn)
NM_001242896.3(DEPDC5):c.4605C>G (p.Asn1535Lys)
NM_001242896.3(DEPDC5):c.4608G>T (p.Gln1536His)
NM_001242896.3(DEPDC5):c.4619G>A (p.Cys1540Tyr)
NM_001242896.3(DEPDC5):c.4621G>A (p.Glu1541Lys) rs2149449183
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp) rs780294726
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser) rs1229311796
NM_001242896.3(DEPDC5):c.4637A>G (p.Tyr1546Cys)
NM_001242896.3(DEPDC5):c.4640A>G (p.Asn1547Ser)
NM_001242896.3(DEPDC5):c.4649A>C (p.Tyr1550Ser)
NM_001242896.3(DEPDC5):c.4657A>G (p.Met1553Val)
NM_001242896.3(DEPDC5):c.4675C>T (p.Arg1559Cys)
NM_001242896.3(DEPDC5):c.4676G>A (p.Arg1559His)
NM_001242896.3(DEPDC5):c.4684G>A (p.Ala1562Thr) rs373645855
NM_001242896.3(DEPDC5):c.4684G>T (p.Ala1562Ser) rs373645855
NM_001242896.3(DEPDC5):c.4685C>T (p.Ala1562Val)
NM_001242896.3(DEPDC5):c.4692_4693delinsTTT (p.Asp1565fs) rs1569255986
NM_001242896.3(DEPDC5):c.4700A>G (p.Lys1567Arg)
NM_001242896.3(DEPDC5):c.4700del (p.Lys1567fs)
NM_001242896.3(DEPDC5):c.470G>A (p.Ser157Asn)
NM_001242896.3(DEPDC5):c.4715T>A (p.Leu1572Gln) rs1208729078
NM_001242896.3(DEPDC5):c.4729_4730delinsCT (p.Thr1577Leu) rs2149449846
NM_001242896.3(DEPDC5):c.4737C>A (p.Phe1579Leu)
NM_001242896.3(DEPDC5):c.4737del (p.Cys1580fs) rs2149449891
NM_001242896.3(DEPDC5):c.4738T>C (p.Cys1580Arg) rs2093760699
NM_001242896.3(DEPDC5):c.4739G>A (p.Cys1580Tyr) rs776213050
NM_001242896.3(DEPDC5):c.4739G>C (p.Cys1580Ser)
NM_001242896.3(DEPDC5):c.4747del (p.Arg1583fs)
NM_001242896.3(DEPDC5):c.4748_4788delinsC (p.Arg1583fs) rs2093761109
NM_001242896.3(DEPDC5):c.4749_4750insTT (p.Asp1584fs)
NM_001242896.3(DEPDC5):c.4762G>C (p.Val1588Leu) rs2149450028
NM_001242896.3(DEPDC5):c.4763T>C (p.Val1588Ala)
NM_001242896.3(DEPDC5):c.4766C>T (p.Thr1589Met)
NM_001242896.3(DEPDC5):c.476A>G (p.Asp159Gly) rs2148329131
NM_001242896.3(DEPDC5):c.4778G>T (p.Ser1593Ile) rs1603019516
NM_001242896.3(DEPDC5):c.4779T>A (p.Ser1593Arg) rs750919199
NM_001242896.3(DEPDC5):c.4793T>C (p.Met1598Thr) rs1555943470
NM_001242896.3(DEPDC5):c.4808C>G (p.Pro1603Arg)
NM_001242896.3(DEPDC5):c.529A>G (p.Met177Val) rs2148405162
NM_001242896.3(DEPDC5):c.533G>A (p.Ser178Asn)
NM_001242896.3(DEPDC5):c.534C>G (p.Ser178Arg)
NM_001242896.3(DEPDC5):c.534C>T (p.Ser178=)
NM_001242896.3(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242896.3(DEPDC5):c.543G>A (p.Met181Ile) rs887378031
NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn) rs368985382
NM_001242896.3(DEPDC5):c.562+6G>A
NM_001242896.3(DEPDC5):c.563-3C>G rs2084816247
NM_001242896.3(DEPDC5):c.566A>T (p.Asp189Val) rs2084816540
NM_001242896.3(DEPDC5):c.574T>C (p.Phe192Leu)
NM_001242896.3(DEPDC5):c.58+6T>C rs2075195526
NM_001242896.3(DEPDC5):c.59-3C>G rs1064795947
NM_001242896.3(DEPDC5):c.59-3C>T
NM_001242896.3(DEPDC5):c.599T>C (p.Leu200Pro) rs2148415428
NM_001242896.3(DEPDC5):c.602C>A (p.Ala201Asp) rs1569519698
NM_001242896.3(DEPDC5):c.610T>C (p.Phe204Leu) rs2084819937
NM_001242896.3(DEPDC5):c.613A>T (p.Thr205Ser)
NM_001242896.3(DEPDC5):c.624+5A>G
NM_001242896.3(DEPDC5):c.625-7T>G rs1276867202
NM_001242896.3(DEPDC5):c.664T>C (p.Ser222Pro) rs2148505001
NM_001242896.3(DEPDC5):c.674T>G (p.Phe225Cys)
NM_001242896.3(DEPDC5):c.675C>G (p.Phe225Leu)
NM_001242896.3(DEPDC5):c.680A>T (p.Asp227Val) rs2148505198
NM_001242896.3(DEPDC5):c.689C>T (p.Ser230Phe)
NM_001242896.3(DEPDC5):c.691G>T (p.Val231Phe)
NM_001242896.3(DEPDC5):c.692T>C (p.Val231Ala) rs2148505288
NM_001242896.3(DEPDC5):c.694+3_694+6del rs1351154360
NM_001242896.3(DEPDC5):c.694+5G>A rs1060501485
NM_001242896.3(DEPDC5):c.695-3C>G
NM_001242896.3(DEPDC5):c.695A>G (p.Asp232Gly)
NM_001242896.3(DEPDC5):c.709A>G (p.Ile237Val)
NM_001242896.3(DEPDC5):c.716G>A (p.Arg239Gln) rs371511498
NM_001242896.3(DEPDC5):c.716G>C (p.Arg239Pro)
NM_001242896.3(DEPDC5):c.718G>A (p.Ala240Thr) rs761256495
NM_001242896.3(DEPDC5):c.719C>T (p.Ala240Val) rs1335967704
NM_001242896.3(DEPDC5):c.728G>T (p.Arg243Leu) rs368129922
NM_001242896.3(DEPDC5):c.750C>G (p.Phe250Leu)
NM_001242896.3(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242896.3(DEPDC5):c.757G>T (p.Asp253Tyr)
NM_001242896.3(DEPDC5):c.793G>A (p.Glu265Lys)
NM_001242896.3(DEPDC5):c.80C>T (p.Pro27Leu) rs1485949754
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242896.3(DEPDC5):c.829C>A (p.Leu277Ile)
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe) rs778656662
NM_001242896.3(DEPDC5):c.82A>G (p.Lys28Glu) rs2082124844
NM_001242896.3(DEPDC5):c.83A>G (p.Lys28Arg)
NM_001242896.3(DEPDC5):c.842A>G (p.Tyr281Cys)
NM_001242896.3(DEPDC5):c.847G>A (p.Val283Met) rs1569523754
NM_001242896.3(DEPDC5):c.847G>C (p.Val283Leu) rs1569523754
NM_001242896.3(DEPDC5):c.856C>G (p.Arg286Gly)
NM_001242896.3(DEPDC5):c.857G>A (p.Arg286Gln)
NM_001242896.3(DEPDC5):c.859C>G (p.Leu287Val)
NM_001242896.3(DEPDC5):c.869C>T (p.Ala290Val) rs2148575481
NM_001242896.3(DEPDC5):c.870A>G (p.Ala290=) rs2148575505
NM_001242896.3(DEPDC5):c.872-3C>T rs2086521058
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser) rs2086522074
NM_001242896.3(DEPDC5):c.881C>T (p.Pro294Leu)
NM_001242896.3(DEPDC5):c.884_886del (p.Gln295_Gly296delinsArg) rs2148587515
NM_001242896.3(DEPDC5):c.890A>G (p.Asp297Gly)
NM_001242896.3(DEPDC5):c.898A>G (p.Thr300Ala)
NM_001242896.3(DEPDC5):c.899C>T (p.Thr300Ile)
NM_001242896.3(DEPDC5):c.8CAA[1] (p.Thr4del) rs2075190242
NM_001242896.3(DEPDC5):c.907C>G (p.Gln303Glu) rs1601935420
NM_001242896.3(DEPDC5):c.908A>C (p.Gln303Pro) rs765384973
NM_001242896.3(DEPDC5):c.911G>A (p.Gly304Glu)
NM_001242896.3(DEPDC5):c.914A>G (p.Asn305Ser)
NM_001242896.3(DEPDC5):c.916T>G (p.Tyr306Asp)
NM_001242896.3(DEPDC5):c.917A>G (p.Tyr306Cys)
NM_001242896.3(DEPDC5):c.920T>G (p.Leu307Arg) rs752537116
NM_001242896.3(DEPDC5):c.930C>G (p.Ile310Met)
NM_001242896.3(DEPDC5):c.938C>T (p.Ser313Leu) rs2148587902
NM_001242896.3(DEPDC5):c.971G>A (p.Arg324His) rs2087011135
NM_001242896.3(DEPDC5):c.974A>C (p.Asn325Thr)
NM_001242896.3(DEPDC5):c.974A>G (p.Asn325Ser) rs2087011420
NM_001242896.3(DEPDC5):c.97A>G (p.Ile33Val) rs368035159
NM_001242896.3(DEPDC5):c.994A>G (p.Met332Val) rs763154977
NM_001271.4(CHD2):c.1003C>A (p.Leu335Ile) rs369773756
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
NM_001271.4(CHD2):c.1039G>A (p.Glu347Lys)
NM_001271.4(CHD2):c.103A>G (p.Ser35Gly)
NM_001271.4(CHD2):c.1042A>G (p.Ile348Val)
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
NM_001271.4(CHD2):c.1052+4T>C
NM_001271.4(CHD2):c.1052+5A>G
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile) rs143043614
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala) rs1596397712
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1177T>A (p.Leu393Met)
NM_001271.4(CHD2):c.1180G>T (p.Gly394Cys) rs771650465
NM_001271.4(CHD2):c.1208G>A (p.Arg403Gln)
NM_001271.4(CHD2):c.1219C>A (p.Pro407Thr) rs2141795454
NM_001271.4(CHD2):c.1225A>T (p.Asn409Tyr)
NM_001271.4(CHD2):c.1234G>A (p.Glu412Lys) rs541056569
NM_001271.4(CHD2):c.1234_1235delinsAC (p.Glu412Thr) rs2053463440
NM_001271.4(CHD2):c.1238A>G (p.Tyr413Cys)
NM_001271.4(CHD2):c.1244G>A (p.Cys415Tyr)
NM_001271.4(CHD2):c.1254G>A (p.Met418Ile)
NM_001271.4(CHD2):c.1282G>C (p.Glu428Gln)
NM_001271.4(CHD2):c.1291G>C (p.Ala431Pro)
NM_001271.4(CHD2):c.1318T>C (p.Cys440Arg) rs763507530
NM_001271.4(CHD2):c.1319G>T (p.Cys440Phe) rs2053464128
NM_001271.4(CHD2):c.1327A>G (p.Ser443Gly) rs2141795625
NM_001271.4(CHD2):c.1328G>C (p.Ser443Thr)
NM_001271.4(CHD2):c.1334A>G (p.His445Arg) rs750053293
NM_001271.4(CHD2):c.1357A>G (p.Ile453Val) rs144393676
NM_001271.4(CHD2):c.1372T>C (p.Cys458Arg) rs1769067223
NM_001271.4(CHD2):c.1377+4T>C rs2053464708
NM_001271.4(CHD2):c.1377+6G>A rs2053464769
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
NM_001271.4(CHD2):c.1502+4G>A
NM_001271.4(CHD2):c.1508A>C (p.Asn503Thr)
NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)
NM_001271.4(CHD2):c.1535G>C (p.Gly512Ala) rs2053579153
NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)
NM_001271.4(CHD2):c.1558A>G (p.Ile520Val) rs773793367
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
NM_001271.4(CHD2):c.1603C>T (p.Pro535Ser)
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile) rs1368222485
NM_001271.4(CHD2):c.1645C>A (p.Gln549Lys) rs1392359380
NM_001271.4(CHD2):c.1666G>A (p.Ala556Thr) rs2053579900
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu) rs1060503520
NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)
NM_001271.4(CHD2):c.1720-3T>C rs759231634
NM_001271.4(CHD2):c.1720A>C (p.Ile574Leu) rs2141814804
NM_001271.4(CHD2):c.1729T>C (p.Tyr577His) rs2141814817
NM_001271.4(CHD2):c.1729T>G (p.Tyr577Asp) rs2141814817
NM_001271.4(CHD2):c.1737G>C (p.Trp579Cys) rs2141814824
NM_001271.4(CHD2):c.1738A>C (p.Ile580Leu)
NM_001271.4(CHD2):c.1745C>G (p.Ser582Cys) rs2053606798
NM_001271.4(CHD2):c.1753A>G (p.Lys585Glu) rs2141814847
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys) rs2141814855
NM_001271.4(CHD2):c.1774C>T (p.Leu592Phe) rs2141814881
NM_001271.4(CHD2):c.1778T>G (p.Ile593Arg) rs2053607137
NM_001271.4(CHD2):c.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
NM_001271.4(CHD2):c.1838T>C (p.Phe613Ser)
NM_001271.4(CHD2):c.1874A>G (p.Asp625Gly) rs2141816546
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
NM_001271.4(CHD2):c.1943C>G (p.Pro648Arg)
NM_001271.4(CHD2):c.194A>C (p.Glu65Ala) rs2053018824
NM_001271.4(CHD2):c.1955C>A (p.Ser652Tyr)
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
NM_001271.4(CHD2):c.1978C>A (p.Leu660Met) rs2141816626
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser) rs768407397
NM_001271.4(CHD2):c.2000+4A>G
NM_001271.4(CHD2):c.2001G>A (p.Lys667=) rs2053779282
NM_001271.4(CHD2):c.2005G>C (p.Glu669Gln)
NM_001271.4(CHD2):c.2010T>G (p.Phe670Leu) rs1165969857
NM_001271.4(CHD2):c.2035G>A (p.Gly679Arg) rs867188529
NM_001271.4(CHD2):c.2045G>T (p.Arg682Ile)
NM_001271.4(CHD2):c.204C>G (p.Ser68Arg) rs150919373
NM_001271.4(CHD2):c.2062A>C (p.Ser688Arg)
NM_001271.4(CHD2):c.2076G>A (p.Val692=)
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe) rs2053779861
NM_001271.4(CHD2):c.20A>G (p.Lys7Arg) rs2052524601
NM_001271.4(CHD2):c.2125C>T (p.Leu709Phe) rs2141830674
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
NM_001271.4(CHD2):c.2175G>C (p.Gln725His)
NM_001271.4(CHD2):c.2180A>G (p.Gln727Arg) rs2141830697
NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
NM_001271.4(CHD2):c.2257A>G (p.Asn753Asp) rs2141835724
NM_001271.4(CHD2):c.2279A>C (p.Lys760Thr) rs2141835731
NM_001271.4(CHD2):c.2292C>A (p.His764Gln) rs2141835739
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro) rs2053846412
NM_001271.4(CHD2):c.2353-16T>C
NM_001271.4(CHD2):c.2353-3C>T rs558236184
NM_001271.4(CHD2):c.235C>G (p.Leu79Val) rs1555437429
NM_001271.4(CHD2):c.2363G>A (p.Arg788Lys) rs2141836184
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2375A>G (p.Lys792Arg)
NM_001271.4(CHD2):c.2377T>G (p.Leu793Val)
NM_001271.4(CHD2):c.239C>A (p.Pro80Gln)
NM_001271.4(CHD2):c.2402C>A (p.Thr801Lys) rs372801085
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.2411G>A (p.Arg804Gln)
NM_001271.4(CHD2):c.2434A>G (p.Ile812Val) rs2141836222
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys) rs2053851669
NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser) rs2053851835
NM_001271.4(CHD2):c.2510T>C (p.Leu837Pro) rs2141839131
NM_001271.4(CHD2):c.2555A>G (p.His852Arg) rs2053887900
NM_001271.4(CHD2):c.2561A>G (p.Asn854Ser)
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly) rs864309541
NM_001271.4(CHD2):c.2583C>G (p.Phe861Leu) rs2141843170
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu) rs1085308000
NM_001271.4(CHD2):c.2598G>T (p.Ser866=)
NM_001271.4(CHD2):c.2617G>A (p.Gly873Arg)
NM_001271.4(CHD2):c.2667G>C (p.Trp889Cys) rs2141843220
NM_001271.4(CHD2):c.2671C>T (p.Pro891Ser)
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr) rs1596427988
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val) rs2141843246
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.2708G>T (p.Arg903Ile) rs2141843253
NM_001271.4(CHD2):c.2716C>G (p.Gln906Glu)
NM_001271.4(CHD2):c.2727+5G>T
NM_001271.4(CHD2):c.2749A>G (p.Thr917Ala) rs766507274
NM_001271.4(CHD2):c.274C>T (p.Arg92Trp)
NM_001271.4(CHD2):c.2793G>T (p.Lys931Asn)
NM_001271.4(CHD2):c.2810A>C (p.His937Pro) rs2053946385
NM_001271.4(CHD2):c.2825G>C (p.Arg942Pro) rs2141844247
NM_001271.4(CHD2):c.2827A>G (p.Met943Val)
NM_001271.4(CHD2):c.2856A>T (p.Glu952Asp) rs1388780876
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser) rs2141844278
NM_001271.4(CHD2):c.2869A>G (p.Arg957Gly)
NM_001271.4(CHD2):c.2871_2876+15dup
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile) rs2141846369
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile) rs2053970198
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.2974-3T>C rs778558788
NM_001271.4(CHD2):c.2977A>G (p.Met993Val) rs2053978485
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu) rs1064794528
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala) rs2053978897
NM_001271.4(CHD2):c.3096A>C (p.Glu1032Asp)
NM_001271.4(CHD2):c.3096AGA[1] (p.Glu1034del) rs1439253837
NM_001271.4(CHD2):c.30GGA[1] (p.Glu11del)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
NM_001271.4(CHD2):c.3150A>C (p.Glu1050Asp) rs1261637857
NM_001271.4(CHD2):c.3151C>A (p.Gln1051Lys)
NM_001271.4(CHD2):c.3158A>T (p.Lys1053Ile)
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
NM_001271.4(CHD2):c.3238-5C>G rs1555443468
NM_001271.4(CHD2):c.3247A>G (p.Asn1083Asp)
NM_001271.4(CHD2):c.3264C>A (p.Asp1088Glu)
NM_001271.4(CHD2):c.3275A>G (p.Lys1092Arg)
NM_001271.4(CHD2):c.3278G>A (p.Arg1093Lys) rs2054031377
NM_001271.4(CHD2):c.3338A>G (p.Lys1113Arg)
NM_001271.4(CHD2):c.3366T>A (p.Ser1122Arg)
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp) rs1454060267
NM_001271.4(CHD2):c.3378C>A (p.Asp1126Glu)
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met) rs776091604
NM_001271.4(CHD2):c.338A>G (p.Asn113Ser)
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr) rs2141852043
NM_001271.4(CHD2):c.3401C>G (p.Ala1134Gly)
NM_001271.4(CHD2):c.341G>T (p.Arg114Leu)
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg) rs1471418780
NM_001271.4(CHD2):c.3455+4_3455+5del rs2054119330
NM_001271.4(CHD2):c.3456-3C>T
NM_001271.4(CHD2):c.3472C>T (p.Arg1158Cys)
NM_001271.4(CHD2):c.3473G>A (p.Arg1158His) rs2054139096
NM_001271.4(CHD2):c.3476A>T (p.Asp1159Val) rs2141861610
NM_001271.4(CHD2):c.3484C>G (p.Leu1162Val) rs2141861616
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) rs1555444210
NM_001271.4(CHD2):c.3497C>T (p.Ser1166Leu) rs1064794438
NM_001271.4(CHD2):c.3515G>A (p.Arg1172His) rs2054139326
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met) rs1555444216
NM_001271.4(CHD2):c.3565G>A (p.Glu1189Lys)
NM_001271.4(CHD2):c.3584A>G (p.Asn1195Ser)
NM_001271.4(CHD2):c.3587C>G (p.Ala1196Gly)
NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)
NM_001271.4(CHD2):c.3592G>C (p.Glu1198Gln) rs757981280
NM_001271.4(CHD2):c.3595+6C>T
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
NM_001271.4(CHD2):c.3602G>A (p.Gly1201Glu) rs2054196855
NM_001271.4(CHD2):c.3628A>G (p.Ile1210Val)
NM_001271.4(CHD2):c.3629T>G (p.Ile1210Ser) rs2141867277
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu) rs1064795319
NM_001271.4(CHD2):c.3646C>A (p.Gln1216Lys)
NM_001271.4(CHD2):c.3646C>G (p.Gln1216Glu)
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe) rs2054197204
NM_001271.4(CHD2):c.366T>G (p.Phe122Leu)
NM_001271.4(CHD2):c.3677A>C (p.Glu1226Ala)
NM_001271.4(CHD2):c.3679G>A (p.Glu1227Lys) rs150583797
NM_001271.4(CHD2):c.3691A>G (p.Met1231Val) rs1408881628
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr) rs2054197453
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
NM_001271.4(CHD2):c.370A>G (p.Ile124Val)
NM_001271.4(CHD2):c.371T>C (p.Ile124Thr)
NM_001271.4(CHD2):c.3727A>G (p.Lys1243Glu)
NM_001271.4(CHD2):c.3733A>C (p.Lys1245Gln) rs2054197954
NM_001271.4(CHD2):c.3734+3G>T
NM_001271.4(CHD2):c.3735-6C>G rs1235843668
NM_001271.4(CHD2):c.3746C>T (p.Thr1249Ile)
NM_001271.4(CHD2):c.374A>C (p.Lys125Thr)
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys) rs2054200484
NM_001271.4(CHD2):c.3752G>A (p.Arg1251His)
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
NM_001271.4(CHD2):c.382-6C>A rs756487303
NM_001271.4(CHD2):c.3821A>T (p.Tyr1274Phe)
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser) rs1596447174
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys) rs1596447179
NM_001271.4(CHD2):c.3857C>T (p.Thr1286Ile)
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser) rs2054201108
NM_001271.4(CHD2):c.3865G>C (p.Glu1289Gln)
NM_001271.4(CHD2):c.3867G>C (p.Glu1289Asp) rs1358081390
NM_001271.4(CHD2):c.3876A>T (p.Leu1292Phe)
NM_001271.4(CHD2):c.3885+4A>G rs1555444612
NM_001271.4(CHD2):c.3886-18C>T
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
NM_001271.4(CHD2):c.3906T>A (p.Asp1302Glu) rs2141868872
NM_001271.4(CHD2):c.3913C>G (p.Pro1305Ala)
NM_001271.4(CHD2):c.3927G>T (p.Gln1309His) rs938005096
NM_001271.4(CHD2):c.392G>A (p.Gly131Glu)
NM_001271.4(CHD2):c.3938G>T (p.Arg1313Leu)
NM_001271.4(CHD2):c.3941C>T (p.Ala1314Val)
NM_001271.4(CHD2):c.3950T>C (p.Leu1317Ser) rs2141868900
NM_001271.4(CHD2):c.3957G>T (p.Lys1319Asn) rs2141868905
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly) rs1555444712
NM_001271.4(CHD2):c.3979AAG[1] (p.Lys1328del) rs1410645881
NM_001271.4(CHD2):c.3981G>T (p.Lys1327Asn)
NM_001271.4(CHD2):c.3997G>A (p.Gly1333Ser)
NM_001271.4(CHD2):c.4008+5G>A rs2141868973
NM_001271.4(CHD2):c.4009-3C>T
NM_001271.4(CHD2):c.4009G>A (p.Ala1337Thr) rs776072657
NM_001271.4(CHD2):c.4024C>T (p.Arg1342Trp)
NM_001271.4(CHD2):c.4025G>T (p.Arg1342Leu) rs143503275
NM_001271.4(CHD2):c.4025_4026delinsTA (p.Arg1342Leu) rs2141871683
NM_001271.4(CHD2):c.4033C>T (p.Arg1345Trp) rs1273391509
NM_001271.4(CHD2):c.4051A>G (p.Lys1351Glu)
NM_001271.4(CHD2):c.4070A>G (p.Glu1357Gly) rs2141871721
NM_001271.4(CHD2):c.4073A>C (p.Glu1358Ala) rs2141871726
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.4084G>C (p.Glu1362Gln)
NM_001271.4(CHD2):c.4096C>T (p.Pro1366Ser)
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala) rs2052525047
NM_001271.4(CHD2):c.4108G>A (p.Asp1370Asn) rs2054242398
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp) rs745311012
NM_001271.4(CHD2):c.4120G>A (p.Glu1374Lys)
NM_001271.4(CHD2):c.4133T>G (p.Val1378Gly) rs2054242633
NM_001271.4(CHD2):c.4137+11G>C
NM_001271.4(CHD2):c.4142A>G (p.Asp1381Gly) rs760717598
NM_001271.4(CHD2):c.4145G>T (p.Gly1382Val)
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
NM_001271.4(CHD2):c.4165A>G (p.Lys1389Glu)
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
NM_001271.4(CHD2):c.4189A>T (p.Asn1397Tyr)
NM_001271.4(CHD2):c.4207A>C (p.Lys1403Gln)
NM_001271.4(CHD2):c.4212A>T (p.Gln1404His)
NM_001271.4(CHD2):c.4217G>T (p.Ser1406Ile) rs2054266595
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile) rs1567159959
NM_001271.4(CHD2):c.4220C>A (p.Ser1407Tyr) rs780455269
NM_001271.4(CHD2):c.4228G>A (p.Asp1410Asn) rs775901148
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly) rs1064795470
NM_001271.4(CHD2):c.4236A>C (p.Glu1412Asp) rs747843766
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala) rs773012231
NM_001271.4(CHD2):c.4259C>T (p.Ser1420Leu)
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
NM_001271.4(CHD2):c.4278+5T>A rs202174434
NM_001271.4(CHD2):c.4279C>G (p.Pro1427Ala)
NM_001271.4(CHD2):c.4288G>C (p.Gly1430Arg) rs2054297469
NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys) rs2053117542
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
NM_001271.4(CHD2):c.4306A>G (p.Ser1436Gly) rs889423529
NM_001271.4(CHD2):c.4310A>C (p.Lys1437Thr) rs1308086750
NM_001271.4(CHD2):c.4319G>A (p.Arg1440Gln)
NM_001271.4(CHD2):c.4319G>C (p.Arg1440Pro)
NM_001271.4(CHD2):c.4343C>T (p.Thr1448Ile) rs2141876540
NM_001271.4(CHD2):c.4413+3A>G rs2054298217
NM_001271.4(CHD2):c.4443G>C (p.Lys1481Asn)
NM_001271.4(CHD2):c.4450A>G (p.Lys1484Glu)
NM_001271.4(CHD2):c.446A>G (p.Glu149Gly)
NM_001271.4(CHD2):c.4489G>A (p.Glu1497Lys)
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp) rs764680752
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser) rs2141881607
NM_001271.4(CHD2):c.4513T>C (p.Cys1505Arg)
NM_001271.4(CHD2):c.4546T>A (p.Cys1516Ser)
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr) rs1183987736
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu) rs372786805
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp) rs2141881675
NM_001271.4(CHD2):c.4574A>G (p.His1525Arg) rs2141881676
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.4592+3A>G
NM_001271.4(CHD2):c.4592+4A>G rs1450865656
NM_001271.4(CHD2):c.4592+5C>T
NM_001271.4(CHD2):c.4598T>G (p.Leu1533Arg) rs2054404153
NM_001271.4(CHD2):c.4612T>G (p.Ser1538Ala) rs2141885429
NM_001271.4(CHD2):c.4622C>G (p.Thr1541Arg) rs2141885433
NM_001271.4(CHD2):c.4622C>T (p.Thr1541Ile) rs2141885433
NM_001271.4(CHD2):c.463C>A (p.Pro155Thr)
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg) rs1428758251
NM_001271.4(CHD2):c.4663G>A (p.Ala1555Thr) rs2054404552
NM_001271.4(CHD2):c.4666C>T (p.His1556Tyr)
NM_001271.4(CHD2):c.4667A>G (p.His1556Arg)
NM_001271.4(CHD2):c.4724G>T (p.Gly1575Val)
NM_001271.4(CHD2):c.4745A>G (p.Glu1582Gly)
NM_001271.4(CHD2):c.4746G>C (p.Glu1582Asp) rs2141888193
NM_001271.4(CHD2):c.4748C>T (p.Ala1583Val)
NM_001271.4(CHD2):c.4763G>A (p.Arg1588Gln)
NM_001271.4(CHD2):c.4784C>T (p.Ser1595Phe)
NM_001271.4(CHD2):c.4787A>G (p.His1596Arg)
NM_001271.4(CHD2):c.4789A>G (p.Thr1597Ala) rs1596458216
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
NM_001271.4(CHD2):c.479A>G (p.Gln160Arg)
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys) rs1555438837
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4857C>A (p.His1619Gln)
NM_001271.4(CHD2):c.4859C>G (p.Pro1620Arg)
NM_001271.4(CHD2):c.4873A>G (p.Asn1625Asp)
NM_001271.4(CHD2):c.4876C>T (p.His1626Tyr)
NM_001271.4(CHD2):c.488G>A (p.Gly163Asp)
NM_001271.4(CHD2):c.4897del (p.Ser1633fs) rs2054438416
NM_001271.4(CHD2):c.4898G>A (p.Ser1633Asn) rs2054438446
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) rs1555445701
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=) rs2054438546
NM_001271.4(CHD2):c.4907A>G (p.Asp1636Gly)
NM_001271.4(CHD2):c.4909C>G (p.Arg1637Gly)
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu) rs575697793
NM_001271.4(CHD2):c.4917C>G (p.Asp1639Glu)
NM_001271.4(CHD2):c.491C>G (p.Thr164Ser)
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser) rs1567166830
NM_001271.4(CHD2):c.4934A>G (p.Lys1645Arg) rs751850387
NM_001271.4(CHD2):c.4940A>G (p.Asn1647Ser)
NM_001271.4(CHD2):c.4944TGG[2] (p.Gly1651del) rs988975454
NM_001271.4(CHD2):c.4955A>G (p.Asn1652Ser)
NM_001271.4(CHD2):c.4956C>G (p.Asn1652Lys) rs200979907
NM_001271.4(CHD2):c.4960A>T (p.Asn1654Tyr) rs1437890850
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
NM_001271.4(CHD2):c.4973G>A (p.Gly1658Glu)
NM_001271.4(CHD2):c.4987C>T (p.His1663Tyr) rs746965265
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr) rs142534503
NM_001271.4(CHD2):c.5017C>A (p.His1673Asn) rs190569275
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg) rs2141895266
NM_001271.4(CHD2):c.503G>C (p.Ser168Thr)
NM_001271.4(CHD2):c.5041_5042dup (p.Met1681fs)
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
NM_001271.4(CHD2):c.5050C>G (p.His1684Asp)
NM_001271.4(CHD2):c.5051A>C (p.His1684Pro) rs770784804
NM_001271.4(CHD2):c.5053C>T (p.Arg1685Cys)
NM_001271.4(CHD2):c.5057C>G (p.Ser1686Cys)
NM_001271.4(CHD2):c.5066A>G (p.Tyr1689Cys) rs773408940
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser) rs754463281
NM_001271.4(CHD2):c.5072C>T (p.Pro1691Leu) rs1227123179
NM_001271.4(CHD2):c.5075ACA[1] (p.Asn1693del) rs762235508
NM_001271.4(CHD2):c.5110A>T (p.Ser1704Cys)
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn) rs2054516537
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_001271.4(CHD2):c.5135A>T (p.His1712Leu)
NM_001271.4(CHD2):c.5136_5137del (p.His1712fs) rs2054516766
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter) rs773497328
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=) rs768370702
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter) rs1596463906
NM_001271.4(CHD2):c.522A>G (p.Lys174=) rs573405690
NM_001271.4(CHD2):c.522A>T (p.Lys174Asn) rs573405690
NM_001271.4(CHD2):c.5233T>C (p.Ser1745Pro)
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs) rs2054569319
NM_001271.4(CHD2):c.5240A>C (p.His1747Pro)
NM_001271.4(CHD2):c.5241C>G (p.His1747Gln)
NM_001271.4(CHD2):c.5243G>A (p.Arg1748His)
NM_001271.4(CHD2):c.5245C>A (p.Pro1749Thr)
NM_001271.4(CHD2):c.5248G>A (p.Ala1750Thr) rs753595749
NM_001271.4(CHD2):c.5249C>T (p.Ala1750Val)
NM_001271.4(CHD2):c.5251A>G (p.Met1751Val)
NM_001271.4(CHD2):c.5260C>T (p.His1754Tyr) rs1162600592
NM_001271.4(CHD2):c.5288G>A (p.Arg1763His)
NM_001271.4(CHD2):c.5288G>T (p.Arg1763Leu)
NM_001271.4(CHD2):c.5291C>T (p.Ser1764Phe)
NM_001271.4(CHD2):c.5294del (p.Phe1765fs)
NM_001271.4(CHD2):c.5297A>G (p.His1766Arg)
NM_001271.4(CHD2):c.5304T>A (p.Asp1768Glu) rs1006801815
NM_001271.4(CHD2):c.5306A>T (p.Lys1769Ile)
NM_001271.4(CHD2):c.5324A>C (p.Gln1775Pro)
NM_001271.4(CHD2):c.5325G>T (p.Gln1775His)
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala) rs371006816
NM_001271.4(CHD2):c.5329C>G (p.Leu1777Val)
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly) rs1596390679
NM_001271.4(CHD2):c.5332C>T (p.Pro1778Ser)
NM_001271.4(CHD2):c.5333C>G (p.Pro1778Arg)
NM_001271.4(CHD2):c.5335C>T (p.Pro1779Ser) rs374271060
NM_001271.4(CHD2):c.5344C>T (p.Pro1782Ser)
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu) rs1265214152
NM_001271.4(CHD2):c.5357A>T (p.Asp1786Val) rs2054570777
NM_001271.4(CHD2):c.5359C>A (p.Pro1787Thr)
NM_001271.4(CHD2):c.5366C>T (p.Ser1789Leu) rs2054570944
NM_001271.4(CHD2):c.5384CTC[1] (p.Pro1796del) rs757944116
NM_001271.4(CHD2):c.5399A>G (p.Lys1800Arg) rs2054571292
NM_001271.4(CHD2):c.5413C>T (p.His1805Tyr) rs2141761768
NM_001271.4(CHD2):c.5416A>T (p.Arg1806Trp) rs12906163
NM_001271.4(CHD2):c.5441A>G (p.Glu1814Gly)
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
NM_001271.4(CHD2):c.5443_5447del (p.Gln1815fs)
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg) rs770556699
NM_001271.4(CHD2):c.5456C>G (p.Pro1819Arg)
NM_001271.4(CHD2):c.5471A>G (p.Asn1824Ser)
NM_001271.4(CHD2):c.5476C>A (p.Arg1826=) rs759398974
NM_001271.4(CHD2):c.5476C>G (p.Arg1826Gly)
NM_001271.4(CHD2):c.551+3G>A rs2141773591
NM_001271.4(CHD2):c.552-5T>C rs2141778314
NM_001271.4(CHD2):c.593A>G (p.Gln198Arg) rs927044414
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp) rs1057524801
NM_001271.4(CHD2):c.607A>G (p.Lys203Glu) rs2141778395
NM_001271.4(CHD2):c.608A>T (p.Lys203Ile)
NM_001271.4(CHD2):c.616G>C (p.Asp206His) rs2141778412
NM_001271.4(CHD2):c.617A>G (p.Asp206Gly) rs2141778416
NM_001271.4(CHD2):c.62+3A>G
NM_001271.4(CHD2):c.63-5A>G
NM_001271.4(CHD2):c.631G>A (p.Asp211Asn)
NM_001271.4(CHD2):c.635A>G (p.Asp212Gly)
NM_001271.4(CHD2):c.645C>G (p.Asp215Glu)
NM_001271.4(CHD2):c.682A>G (p.Lys228Glu)
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001271.4(CHD2):c.692+5G>A
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn) rs1262732938
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
NM_001271.4(CHD2):c.721G>C (p.Asp241His) rs2141785066
NM_001271.4(CHD2):c.733C>A (p.Leu245Ile)
NM_001271.4(CHD2):c.757G>A (p.Val253Ile) rs2053388088
NM_001271.4(CHD2):c.761A>T (p.Asp254Val)
NM_001271.4(CHD2):c.787A>G (p.Ile263Val)
NM_001271.4(CHD2):c.810A>C (p.Arg270Ser) rs2053388439
NM_001271.4(CHD2):c.81A>C (p.Glu27Asp) rs2053017198
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
NM_001271.4(CHD2):c.856A>G (p.Ile286Val) rs1457822140
NM_001271.4(CHD2):c.867T>G (p.Asn289Lys)
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn) rs1555439526
NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr) rs2141787468
NM_001271.4(CHD2):c.88G>A (p.Gly30Ser)
NM_001271.4(CHD2):c.892A>G (p.Thr298Ala)
NM_001271.4(CHD2):c.942G>T (p.Trp314Cys)
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro) rs138279266
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del) rs1232905914
NM_003042.4(SLC6A1):c.1013T>A (p.Ile338Asn)
NM_003042.4(SLC6A1):c.1033A>G (p.Met345Val)
NM_003042.4(SLC6A1):c.1034T>C (p.Met345Thr) rs1697627975
NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met) rs1697630365
NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)
NM_003042.4(SLC6A1):c.1078+4A>G
NM_003042.4(SLC6A1):c.1081C>T (p.Pro361Ser)
NM_003042.4(SLC6A1):c.1091C>T (p.Ala364Val)
NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)
NM_003042.4(SLC6A1):c.1106C>T (p.Pro369Leu) rs2124930745
NM_003042.4(SLC6A1):c.1112C>T (p.Ala371Val)
NM_003042.4(SLC6A1):c.1147A>G (p.Ile383Val) rs1697751144
NM_003042.4(SLC6A1):c.1150C>G (p.Leu384Val)
NM_003042.4(SLC6A1):c.1178G>A (p.Gly393Asp) rs2124930941
NM_003042.4(SLC6A1):c.1187G>A (p.Ser396Asn) rs2124930953
NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)
NM_003042.4(SLC6A1):c.1191+3G>A
NM_003042.4(SLC6A1):c.1192-5T>G
NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)
NM_003042.4(SLC6A1):c.1229A>T (p.Asp410Val)
NM_003042.4(SLC6A1):c.1256G>T (p.Arg419Leu) rs941588071
NM_003042.4(SLC6A1):c.1304G>A (p.Gly435Asp) rs2124932138
NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)
NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro) rs794726859
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)
NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)
NM_003042.4(SLC6A1):c.1357T>C (p.Tyr453His)
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
NM_003042.4(SLC6A1):c.1402T>C (p.Cys468Arg) rs1559636673
NM_003042.4(SLC6A1):c.1426+3_1426+6del rs1553691139
NM_003042.4(SLC6A1):c.1427-9A>G rs1698019472
NM_003042.4(SLC6A1):c.1427G>A (p.Gly476Asp) rs1698020197
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu) rs758351251
NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)
NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
NM_003042.4(SLC6A1):c.1454A>G (p.Gln485Arg) rs1359645826
NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)
NM_003042.4(SLC6A1):c.1461G>A (p.Met487Ile) rs1698021866
NM_003042.4(SLC6A1):c.1461_1462insCAG (p.Met487_Val488insGln) rs1574922559
NM_003042.4(SLC6A1):c.1462G>A (p.Val488Ile)
NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys) rs754493263
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr) rs1574922621
NM_003042.4(SLC6A1):c.1498T>C (p.Trp500Arg)
NM_003042.4(SLC6A1):c.1504T>C (p.Phe502Leu) rs1029475140
NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)
NM_003042.4(SLC6A1):c.1513C>G (p.Pro505Ala) rs1698023649
NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)
NM_003042.4(SLC6A1):c.1525G>A (p.Ala509Thr) rs2124942675
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
NM_003042.4(SLC6A1):c.1528-7T>A rs754449950
NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr) rs1574891085
NM_003042.4(SLC6A1):c.1557G>T (p.Met519Ile)
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
NM_003042.4(SLC6A1):c.1578C>G (p.Asn526Lys)
NM_003042.4(SLC6A1):c.1594T>C (p.Trp532Arg) rs2124944497
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg) rs1698067665
NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)
NM_003042.4(SLC6A1):c.1604G>T (p.Gly535Val)
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
NM_003042.4(SLC6A1):c.1635G>A (p.Met545Ile) rs2124944561
NM_003042.4(SLC6A1):c.1640T>G (p.Leu547Arg) rs1559640513
NM_003042.4(SLC6A1):c.1640del (p.Leu547fs) rs1698068785
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg) rs886042046
NM_003042.4(SLC6A1):c.1655T>A (p.Met552Lys) rs1368412515
NM_003042.4(SLC6A1):c.1658C>A (p.Ala553Asp) rs1559640572
NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)
NM_003042.4(SLC6A1):c.1681G>A (p.Gly561Ser) rs1574925115
NM_003042.4(SLC6A1):c.1695+3A>G rs1559640624
NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)
NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly) rs1697196424
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile) rs1193651446
NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr) rs2124905489
NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)
NM_003042.4(SLC6A1):c.1710G>T (p.Met570Ile)
NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)
NM_003042.4(SLC6A1):c.1738C>G (p.Pro580Ala) rs747243516
NM_003042.4(SLC6A1):c.1753G>C (p.Glu585Gln) rs1698165983
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg) rs956462752
NM_003042.4(SLC6A1):c.1777A>C (p.Thr593Pro) rs1698167143
NM_003042.4(SLC6A1):c.1781G>A (p.Ser594Asn)
NM_003042.4(SLC6A1):c.1789G>A (p.Ala597Thr)
NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val) rs1697197329
NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)
NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)
NM_003042.4(SLC6A1):c.237G>A (p.Gly79=) rs1392190073
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp) rs2124906663
NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)
NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met) rs1697220075
NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val) rs2124906828
NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro) rs2124906844
NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)
NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe) rs1553688027
NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys) rs144322561
NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp) rs1697222986
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu) rs1574892457
NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val) rs1574892457
NM_003042.4(SLC6A1):c.361A>G (p.Met121Val) rs2124907057
NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val) rs1553687808
NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe) rs1553687808
NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val) rs1697262028
NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro) rs2124908640
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys) rs2124908722
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys) rs2124908813
NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg) rs1697264679
NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala) rs2124908883
NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)
NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)
NM_003042.4(SLC6A1):c.471+5G>A rs2124908923
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn) rs748779390
NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)
NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)
NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)
NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)
NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)
NM_003042.4(SLC6A1):c.54C>T (p.Ser18=) rs1697188624
NM_003042.4(SLC6A1):c.553A>G (p.Met185Val) rs1697341413
NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu) rs1697342927
NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu) rs1697343079
NM_003042.4(SLC6A1):c.581+3G>A rs1442190993
NM_003042.4(SLC6A1):c.581+3G>C rs1442190993
NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met) rs1396036517
NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)
NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)
NM_003042.4(SLC6A1):c.715-4C>A
NM_003042.4(SLC6A1):c.715G>A (p.Val239Met) rs2124924012
NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala) rs1184399068
NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu) rs1057524158
NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)
NM_003042.4(SLC6A1):c.767T>C (p.Phe256Ser) rs1559629753
NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)
NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)
NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser) rs2124924313
NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)
NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe) rs2124924355
NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val) rs910919772
NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg) rs2124924416
NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys) rs1697587984
NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu) rs1559630133
NM_003042.4(SLC6A1):c.853T>C (p.Trp285Arg) rs1559630143
NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val) rs1697598818
NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr) rs1574907293
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys) rs1697600999
NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)
NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp) rs768276892
NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe) rs1403165900
NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu) rs779431997
NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)
NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)
NM_003042.4(SLC6A1):c.990_991delinsAG (p.Ser331Gly) rs1697624889
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly) rs1598980284
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp) rs2087304609
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr) rs2087307019
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly) rs534119817
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu) rs2085950798
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile) rs751458272
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu) rs1252615412
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln) rs1555709548
NM_004287.5(GOSR2):c.205C>A (p.Arg69=) rs770149230
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln) rs780211637
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg) rs2085951116
NM_004287.5(GOSR2):c.226G>C (p.Asp76His) rs2146912195
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro) rs2087482910
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys) rs1598988935
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys) rs2087485301
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val) rs2146913099
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys) rs2146913169
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp) rs2146913197
NM_004287.5(GOSR2):c.29+13C>A
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys) rs759305157
NM_004287.5(GOSR2):c.300G>C (p.Gln100His) rs2087488656
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu) rs2146850344
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro) rs750960207
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile) rs1599019391
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile) rs1174104260
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val) rs2088079257
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del) rs1381386644
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val) rs757363374
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly) rs2088083666
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
NM_004287.5(GOSR2):c.477+6G>T rs1568177911
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro) rs746688685
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn) rs1425442098
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly) rs2088814830
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln) rs1348639194
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu) rs765094724
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr) rs1328118330
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg) rs2147051685
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu) rs780839289
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala) rs956070241
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp) rs2147052419
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln) rs760997502
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala) rs12944167
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) rs12944167
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val) rs2086996915
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met) rs2146890867
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn) rs148695604
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln) rs1428107171
NM_004408.4(DNM1):c.1180A>C (p.Asn394His) rs1835103161
NM_004408.4(DNM1):c.1196+5G>A rs1835103921
NM_004408.4(DNM1):c.1197-10G>A
NM_004408.4(DNM1):c.1197-7C>A rs41306488
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
NM_004408.4(DNM1):c.1336-7T>G rs550764968
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His) rs1835857400
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp) rs368427334
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu) rs750296552
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp) rs1835858946
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser) rs759483040
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
NM_004408.4(DNM1):c.1422+5del
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
NM_004408.4(DNM1):c.1493+20A>G
NM_004408.4(DNM1):c.1493+3G>C
NM_004408.4(DNM1):c.1493+7G>A
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del) rs763633863
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser) rs2131061694
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu) rs867314420
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
NM_004408.4(DNM1):c.161+5_161+6delinsTT
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser) rs2131262599
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu) rs2131283540
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
NM_004408.4(DNM1):c.1781+4C>A
NM_004408.4(DNM1):c.1781+5C>T rs1836821115
NM_004408.4(DNM1):c.1782-3C>T
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile) rs1836896799
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
NM_004408.4(DNM1):c.1906-3C>T
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del) rs748362979
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) rs763245663
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
NM_004408.4(DNM1):c.2128G>C (p.Asp710His) rs2131297334
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) rs1588457823
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) rs1829428293
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys) rs1829432262
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) rs754280238
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys) rs1490577876
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr) rs2131299453
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr) rs1286706539
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser) rs1259228242
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val) rs1486970211
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu) rs1829472592
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu) rs1295591580
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu) rs901408697
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
NM_004408.4(DNM1):c.2534+1dup
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn) rs1829479381
NM_004408.4(DNM1):c.2535-1G>A
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro) rs758567328
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup) rs1564358652
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu) rs187315526
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val) rs2131314418
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.38T>C (p.Val13Ala) rs969698049
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly) rs1320569379
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys) rs1444380018
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly) rs1834851998
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp) rs1834860828
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
NM_004408.4(DNM1):c.703G>A (p.Val235Met) rs2131157918
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
NM_004408.4(DNM1):c.786T>A (p.His262Gln) rs1376656660
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser) rs138053929
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.821C>T (p.Thr274Met) rs1284660372
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu) rs1833619327
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004408.4(DNM1):c.992+3G>A
NM_004408.4(DNM1):c.993-13_993-11del
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
NM_005045.4(RELN):c.-5_1dup (p.Met(?_1)_Met1(?))
NM_005045.4(RELN):c.1000C>T (p.Arg334Cys)
NM_005045.4(RELN):c.1001G>T (p.Arg334Leu) rs146922726
NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg) rs752958651
NM_005045.4(RELN):c.10037A>G (p.Asn3346Ser) rs1192573356
NM_005045.4(RELN):c.10038C>A (p.Asn3346Lys)
NM_005045.4(RELN):c.10039A>C (p.Ser3347Arg) rs1450247215
NM_005045.4(RELN):c.10040G>A (p.Ser3347Asn) rs1828326766
NM_005045.4(RELN):c.10049G>A (p.Ser3350Asn)
NM_005045.4(RELN):c.10052G>T (p.Gly3351Val) rs2116978384
NM_005045.4(RELN):c.10054C>A (p.Pro3352Thr) rs1202492754
NM_005045.4(RELN):c.10100A>G (p.Asn3367Ser)
NM_005045.4(RELN):c.10106T>C (p.Ile3369Thr)
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser) rs1288993333
NM_005045.4(RELN):c.1015T>C (p.Tyr339His) rs2115780671
NM_005045.4(RELN):c.10181+7G>A rs1554360619
NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)
NM_005045.4(RELN):c.10207C>G (p.Leu3403Val) rs2116975944
NM_005045.4(RELN):c.10211G>A (p.Arg3404His) rs1473736832
NM_005045.4(RELN):c.1022C>G (p.Ala341Gly)
NM_005045.4(RELN):c.1022C>T (p.Ala341Val) rs1467885013
NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)
NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu) rs1828293057
NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)
NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser) rs2116975803
NM_005045.4(RELN):c.10273G>A (p.Val3425Ile) rs2116975749
NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del) rs1159588480
NM_005045.4(RELN):c.102_103delinsTT (p.Pro35Ser) rs2116860248
NM_005045.4(RELN):c.10303T>C (p.Tyr3435His) rs1827903281
NM_005045.4(RELN):c.10306A>G (p.Met3436Val) rs1257276738
NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del) rs1406481652
NM_005045.4(RELN):c.10322_10324del (p.Arg3441del) rs770480930
NM_005045.4(RELN):c.10340A>G (p.His3447Arg)
NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile) rs2116945728
NM_005045.4(RELN):c.1037A>G (p.Asp346Gly)
NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)
NM_005045.4(RELN):c.1051A>G (p.Ile351Val)
NM_005045.4(RELN):c.105CTT[1] (p.Phe38del) rs1563127968
NM_005045.4(RELN):c.1063C>T (p.His355Tyr)
NM_005045.4(RELN):c.109T>C (p.Phe37Leu)
NM_005045.4(RELN):c.1117C>A (p.Leu373Ile) rs1421351225
NM_005045.4(RELN):c.1117C>T (p.Leu373Phe)
NM_005045.4(RELN):c.1126C>T (p.Pro376Ser)
NM_005045.4(RELN):c.1129G>A (p.Gly377Arg) rs2115780068
NM_005045.4(RELN):c.1136C>T (p.Thr379Ile)
NM_005045.4(RELN):c.1143+4A>G rs1834010100
NM_005045.4(RELN):c.1144C>T (p.His382Tyr)
NM_005045.4(RELN):c.1145A>G (p.His382Arg) rs756299850
NM_005045.4(RELN):c.1153C>G (p.Gln385Glu) rs1833669763
NM_005045.4(RELN):c.1166A>G (p.Asn389Ser) rs2115696295
NM_005045.4(RELN):c.1173T>G (p.Ile391Met) rs2115696262
NM_005045.4(RELN):c.1180C>T (p.His394Tyr)
NM_005045.4(RELN):c.1181A>G (p.His394Arg)
NM_005045.4(RELN):c.1184G>A (p.Gly395Glu)
NM_005045.4(RELN):c.1192G>A (p.Gly398Ser)
NM_005045.4(RELN):c.1193G>C (p.Gly398Ala) rs766992224
NM_005045.4(RELN):c.1194C>T (p.Gly398=) rs761288381
NM_005045.4(RELN):c.1205A>G (p.Asn402Ser)
NM_005045.4(RELN):c.1214C>T (p.Thr405Ile)
NM_005045.4(RELN):c.1225G>A (p.Val409Ile) rs1833667563
NM_005045.4(RELN):c.1231C>T (p.Leu411Phe) rs144978163
NM_005045.4(RELN):c.124C>T (p.His42Tyr)
NM_005045.4(RELN):c.1250A>G (p.Gln417Arg) rs1554402126
NM_005045.4(RELN):c.1265A>G (p.Glu422Gly)
NM_005045.4(RELN):c.1286C>T (p.Thr429Ile) rs1833665870
NM_005045.4(RELN):c.1289+4A>G
NM_005045.4(RELN):c.1289+4dup rs1833665764
NM_005045.4(RELN):c.1296T>A (p.Asp432Glu)
NM_005045.4(RELN):c.1313T>C (p.Ile438Thr) rs1463687606
NM_005045.4(RELN):c.1338A>T (p.Glu446Asp) rs766146040
NM_005045.4(RELN):c.1344C>T (p.Gly448=) rs144150588
NM_005045.4(RELN):c.1351A>G (p.Met451Val)
NM_005045.4(RELN):c.1352T>C (p.Met451Thr) rs1833139566
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro) rs1833139042
NM_005045.4(RELN):c.1372G>C (p.Glu458Gln)
NM_005045.4(RELN):c.1394C>T (p.Ser465Phe) rs111409626
NM_005045.4(RELN):c.13G>A (p.Gly5Ser)
NM_005045.4(RELN):c.1402A>T (p.Thr468Ser) rs1833136675
NM_005045.4(RELN):c.1415G>A (p.Gly472Glu) rs2117412664
NM_005045.4(RELN):c.1441+5G>A rs1402939542
NM_005045.4(RELN):c.1445G>A (p.Gly482Glu)
NM_005045.4(RELN):c.1456C>T (p.Pro486Ser)
NM_005045.4(RELN):c.1464T>G (p.Asn488Lys) rs1832980117
NM_005045.4(RELN):c.1469A>G (p.His490Arg)
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala) rs1382483563
NM_005045.4(RELN):c.1519A>G (p.Ile507Val)
NM_005045.4(RELN):c.1525C>G (p.Leu509Val)
NM_005045.4(RELN):c.1528G>A (p.Asp510Asn)
NM_005045.4(RELN):c.1552A>G (p.Lys518Glu) rs1832977510
NM_005045.4(RELN):c.1555-4A>G
NM_005045.4(RELN):c.1555G>A (p.Val519Ile) rs560704715
NM_005045.4(RELN):c.1555G>C (p.Val519Leu) rs560704715
NM_005045.4(RELN):c.1556T>C (p.Val519Ala) rs1832948997
NM_005045.4(RELN):c.1559C>T (p.Pro520Leu)
NM_005045.4(RELN):c.1581C>T (p.Ile527=)
NM_005045.4(RELN):c.1583A>G (p.Asn528Ser) rs1217281315
NM_005045.4(RELN):c.1586C>T (p.Pro529Leu)
NM_005045.4(RELN):c.1591C>A (p.Leu531Ile)
NM_005045.4(RELN):c.1621A>G (p.Arg541Gly) rs1562941047
NM_005045.4(RELN):c.1633C>T (p.His545Tyr)
NM_005045.4(RELN):c.1638A>C (p.Gln546His) rs1832946111
NM_005045.4(RELN):c.1640G>A (p.Gly547Glu)
NM_005045.4(RELN):c.1647T>A (p.Asn549Lys) rs1832945895
NM_005045.4(RELN):c.1649G>A (p.Arg550Lys) rs773589573
NM_005045.4(RELN):c.1650G>C (p.Arg550Ser) rs2117391616
NM_005045.4(RELN):c.1684C>T (p.Pro562Ser) rs2117391501
NM_005045.4(RELN):c.1699A>G (p.Thr567Ala)
NM_005045.4(RELN):c.1702A>G (p.Met568Val)
NM_005045.4(RELN):c.1706C>G (p.Ser569Cys) rs2117391403
NM_005045.4(RELN):c.1711A>C (p.Met571Leu)
NM_005045.4(RELN):c.1711A>G (p.Met571Val) rs2117391388
NM_005045.4(RELN):c.1713G>T (p.Met571Ile)
NM_005045.4(RELN):c.1715T>C (p.Ile572Thr)
NM_005045.4(RELN):c.1726A>C (p.Ile576Leu)
NM_005045.4(RELN):c.1735G>A (p.Gly579Arg) rs1584378671
NM_005045.4(RELN):c.173C>T (p.Ser58Phe) rs1797168998
NM_005045.4(RELN):c.1745C>A (p.Thr582Lys)
NM_005045.4(RELN):c.1745C>T (p.Thr582Met) rs1038574999
NM_005045.4(RELN):c.1753C>G (p.Pro585Ala)
NM_005045.4(RELN):c.1763+5_1763+6delinsTT rs2117391274
NM_005045.4(RELN):c.1763+6A>T rs1832942524
NM_005045.4(RELN):c.1763+9_1763+22del
NM_005045.4(RELN):c.1765G>A (p.Val589Ile) rs1199009421
NM_005045.4(RELN):c.1784C>T (p.Thr595Ile) rs2117389352
NM_005045.4(RELN):c.179A>G (p.His60Arg) rs1584425634
NM_005045.4(RELN):c.1808T>G (p.Leu603Arg) rs2117389224
NM_005045.4(RELN):c.1841C>A (p.Ala614Asp) rs1832918061
NM_005045.4(RELN):c.1860C>A (p.His620Gln)
NM_005045.4(RELN):c.1864A>G (p.Thr622Ala) rs2117389074
NM_005045.4(RELN):c.187G>T (p.Gly63Cys)
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln) rs779205093
NM_005045.4(RELN):c.1903A>T (p.Ile635Leu) rs1411192424
NM_005045.4(RELN):c.1911T>G (p.Ile637Met) rs2117386083
NM_005045.4(RELN):c.191A>G (p.Asn64Ser)
NM_005045.4(RELN):c.1923C>G (p.Asn641Lys)
NM_005045.4(RELN):c.1931T>C (p.Leu644Pro)
NM_005045.4(RELN):c.1936C>G (p.Arg646Gly) rs115831287
NM_005045.4(RELN):c.193C>T (p.Pro65Ser) rs1797168163
NM_005045.4(RELN):c.1945A>G (p.Arg649Gly)
NM_005045.4(RELN):c.1951C>T (p.Arg651Cys) rs749565108
NM_005045.4(RELN):c.1969C>G (p.Pro657Ala)
NM_005045.4(RELN):c.196A>G (p.Thr66Ala) rs751673305
NM_005045.4(RELN):c.1985T>C (p.Met662Thr)
NM_005045.4(RELN):c.1A>G (p.Met1Val) rs1218893617
NM_005045.4(RELN):c.2001T>A (p.Asn667Lys)
NM_005045.4(RELN):c.2002+4A>G
NM_005045.4(RELN):c.2009T>C (p.Ile670Thr) rs1832676819
NM_005045.4(RELN):c.2015C>G (p.Pro672Arg)
NM_005045.4(RELN):c.2039G>T (p.Gly680Val) rs1562935595
NM_005045.4(RELN):c.2042G>A (p.Arg681Lys)
NM_005045.4(RELN):c.205G>A (p.Val69Ile)
NM_005045.4(RELN):c.2060A>C (p.His687Pro) rs755685024
NM_005045.4(RELN):c.2070-3C>A
NM_005045.4(RELN):c.2071T>G (p.Cys691Gly) rs1562933794
NM_005045.4(RELN):c.2078C>G (p.Pro693Arg) rs1832583360
NM_005045.4(RELN):c.208C>A (p.Pro70Thr) rs773680003
NM_005045.4(RELN):c.2101G>A (p.Glu701Lys) rs2117351742
NM_005045.4(RELN):c.2125A>T (p.Met709Leu) rs114577182
NM_005045.4(RELN):c.2127G>A (p.Met709Ile) rs2117351623
NM_005045.4(RELN):c.2149A>G (p.Ser717Gly) rs2117351584
NM_005045.4(RELN):c.2156G>C (p.Arg719Thr)
NM_005045.4(RELN):c.2158C>G (p.Leu720Val) rs1554395337
NM_005045.4(RELN):c.2207T>G (p.Phe736Cys)
NM_005045.4(RELN):c.2231G>A (p.Gly744Asp) rs1268141513
NM_005045.4(RELN):c.2234A>G (p.Lys745Arg)
NM_005045.4(RELN):c.224A>G (p.His75Arg) rs770570216
NM_005045.4(RELN):c.224A>T (p.His75Leu) rs770570216
NM_005045.4(RELN):c.226+5G>A
NM_005045.4(RELN):c.226+6T>C
NM_005045.4(RELN):c.226+9del rs753152149
NM_005045.4(RELN):c.2261G>A (p.Arg754Gln) rs1294568040
NM_005045.4(RELN):c.2263C>T (p.Arg755Cys) rs1832577812
NM_005045.4(RELN):c.2268G>C (p.Gln756His)
NM_005045.4(RELN):c.227-3C>T
NM_005045.4(RELN):c.2281T>C (p.Phe761Leu)
NM_005045.4(RELN):c.2297A>G (p.Gln766Arg) rs2117351011
NM_005045.4(RELN):c.22C>T (p.Arg8Trp)
NM_005045.4(RELN):c.2303+6T>G
NM_005045.4(RELN):c.2325A>C (p.Arg775Ser) rs2117349022
NM_005045.4(RELN):c.233T>C (p.Ile78Thr)
NM_005045.4(RELN):c.2349C>A (p.Ser783Arg)
NM_005045.4(RELN):c.2359G>A (p.Ala787Thr) rs1254113534
NM_005045.4(RELN):c.2359G>T (p.Ala787Ser) rs1254113534
NM_005045.4(RELN):c.2374G>C (p.Gly792Arg)
NM_005045.4(RELN):c.2388G>T (p.Leu796Phe)
NM_005045.4(RELN):c.2396A>G (p.Tyr799Cys) rs2117348731
NM_005045.4(RELN):c.2431G>C (p.Glu811Gln)
NM_005045.4(RELN):c.2452T>C (p.Tyr818His)
NM_005045.4(RELN):c.245C>A (p.Thr82Asn) rs368049573
NM_005045.4(RELN):c.2461C>G (p.Pro821Ala) rs988934092
NM_005045.4(RELN):c.2461C>T (p.Pro821Ser) rs988934092
NM_005045.4(RELN):c.2476G>T (p.Val826Leu)
NM_005045.4(RELN):c.2477T>C (p.Val826Ala) rs1554394300
NM_005045.4(RELN):c.2482C>G (p.Leu828Val) rs1832419963
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu) rs797045000
NM_005045.4(RELN):c.2550AGA[1] (p.Glu851del)
NM_005045.4(RELN):c.2557G>A (p.Val853Ile) rs1832418242
NM_005045.4(RELN):c.2563G>A (p.Ala855Thr) rs1269098020
NM_005045.4(RELN):c.2567T>C (p.Ile856Thr)
NM_005045.4(RELN):c.2581A>G (p.Met861Val)
NM_005045.4(RELN):c.2584A>G (p.Thr862Ala) rs1832417485
NM_005045.4(RELN):c.25C>G (p.Gln9Glu) rs1797174077
NM_005045.4(RELN):c.2604C>G (p.Ser868Arg) rs1426251919
NM_005045.4(RELN):c.2608A>G (p.Ser870Gly) rs2117333045
NM_005045.4(RELN):c.2620A>G (p.Thr874Ala)
NM_005045.4(RELN):c.265G>C (p.Val89Leu) rs778154915
NM_005045.4(RELN):c.2686C>A (p.His896Asn)
NM_005045.4(RELN):c.2686C>T (p.His896Tyr)
NM_005045.4(RELN):c.2691C>G (p.Asp897Glu)
NM_005045.4(RELN):c.2702+5G>C rs1832414756
NM_005045.4(RELN):c.2703-3C>T
NM_005045.4(RELN):c.2708C>T (p.Thr903Ile)
NM_005045.4(RELN):c.2717C>G (p.Ser906Cys) rs1174257090
NM_005045.4(RELN):c.2721A>T (p.Lys907Asn) rs1831966221
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile) rs767519770
NM_005045.4(RELN):c.2725G>A (p.Ala909Thr) rs1167526294
NM_005045.4(RELN):c.2734A>G (p.Met912Val)
NM_005045.4(RELN):c.2759T>C (p.Met920Thr)
NM_005045.4(RELN):c.2765T>C (p.Ile922Thr)
NM_005045.4(RELN):c.2770G>A (p.Ala924Thr)
NM_005045.4(RELN):c.2786A>G (p.Gln929Arg)
NM_005045.4(RELN):c.278A>G (p.Tyr93Cys)
NM_005045.4(RELN):c.2797G>T (p.Val933Leu) rs2117291698
NM_005045.4(RELN):c.2810G>C (p.Gly937Ala) rs756821721
NM_005045.4(RELN):c.2822_2836del (p.Thr941_Asp945del) rs1831961846
NM_005045.4(RELN):c.2837A>G (p.Asn946Ser)
NM_005045.4(RELN):c.2846A>C (p.Lys949Thr) rs1237046940
NM_005045.4(RELN):c.2848C>G (p.Leu950Val)
NM_005045.4(RELN):c.2861C>G (p.Thr954Ser) rs2117291489
NM_005045.4(RELN):c.2872C>G (p.Leu958Val)
NM_005045.4(RELN):c.2887G>A (p.Val963Ile)
NM_005045.4(RELN):c.2895+6T>A
NM_005045.4(RELN):c.289A>G (p.Ser97Gly)
NM_005045.4(RELN):c.28A>G (p.Thr10Ala)
NM_005045.4(RELN):c.28A>T (p.Thr10Ser) rs1584425962
NM_005045.4(RELN):c.2905C>G (p.Pro969Ala) rs747794244
NM_005045.4(RELN):c.2913G>A (p.Met971Ile)
NM_005045.4(RELN):c.2917A>G (p.Ser973Gly)
NM_005045.4(RELN):c.292G>A (p.Val98Ile)
NM_005045.4(RELN):c.2975G>A (p.Arg992Lys) rs1831932455
NM_005045.4(RELN):c.2981T>G (p.Val994Gly)
NM_005045.4(RELN):c.2983A>G (p.Ile995Val)
NM_005045.4(RELN):c.2999A>G (p.Gln1000Arg) rs772586514
NM_005045.4(RELN):c.3005C>T (p.Thr1002Ile) rs1376812440
NM_005045.4(RELN):c.3020C>G (p.Thr1007Ser) rs1831766309
NM_005045.4(RELN):c.3023G>A (p.Arg1008His)
NM_005045.4(RELN):c.3036C>G (p.Ser1012Arg) rs777222017
NM_005045.4(RELN):c.3040A>C (p.Ser1014Arg)
NM_005045.4(RELN):c.3041G>A (p.Ser1014Asn)
NM_005045.4(RELN):c.3044A>G (p.Tyr1015Cys)
NM_005045.4(RELN):c.3050C>T (p.Thr1017Ile)
NM_005045.4(RELN):c.3061G>A (p.Glu1021Lys)
NM_005045.4(RELN):c.307A>G (p.Ser103Gly) rs749901976
NM_005045.4(RELN):c.3095A>C (p.Gln1032Pro)
NM_005045.4(RELN):c.3106A>G (p.Met1036Val)
NM_005045.4(RELN):c.3119A>G (p.His1040Arg)
NM_005045.4(RELN):c.311T>C (p.Ile104Thr) rs764845581
NM_005045.4(RELN):c.3124T>A (p.Ser1042Thr) rs1831762160
NM_005045.4(RELN):c.3128G>A (p.Cys1043Tyr)
NM_005045.4(RELN):c.3130G>A (p.Asp1044Asn)
NM_005045.4(RELN):c.3131A>T (p.Asp1044Val) rs2117274001
NM_005045.4(RELN):c.3133C>T (p.His1045Tyr) rs1554389286
NM_005045.4(RELN):c.3139A>C (p.Ile1047Leu) rs778716913
NM_005045.4(RELN):c.3152A>G (p.Asp1051Gly)
NM_005045.4(RELN):c.3158G>A (p.Gly1053Glu) rs1831728723
NM_005045.4(RELN):c.3167G>A (p.Gly1056Asp) rs1831728302
NM_005045.4(RELN):c.3176G>A (p.Cys1059Tyr) rs1831727885
NM_005045.4(RELN):c.3178C>T (p.His1060Tyr)
NM_005045.4(RELN):c.3180C>G (p.His1060Gln)
NM_005045.4(RELN):c.3184G>A (p.Glu1062Lys) rs1287038020
NM_005045.4(RELN):c.3199T>A (p.Ser1067Thr) rs2117271684
NM_005045.4(RELN):c.3205A>G (p.Ile1069Val) rs963460771
NM_005045.4(RELN):c.3209T>C (p.Met1070Thr) rs1554389059
NM_005045.4(RELN):c.3246C>A (p.Asp1082Glu) rs1562917138
NM_005045.4(RELN):c.3259A>G (p.Ile1087Val) rs1243933034
NM_005045.4(RELN):c.3263G>C (p.Gly1088Ala)
NM_005045.4(RELN):c.3271A>C (p.Ile1091Leu)
NM_005045.4(RELN):c.3274G>A (p.Val1092Ile) rs2117271353
NM_005045.4(RELN):c.3277A>C (p.Lys1093Gln)
NM_005045.4(RELN):c.3292T>C (p.Cys1098Arg)
NM_005045.4(RELN):c.32T>G (p.Phe11Cys) rs764120718
NM_005045.4(RELN):c.3300C>T (p.Val1100=)
NM_005045.4(RELN):c.3316T>C (p.Ser1106Pro)
NM_005045.4(RELN):c.3328A>C (p.Ser1110Arg) rs757668683
NM_005045.4(RELN):c.3329G>A (p.Ser1110Asn)
NM_005045.4(RELN):c.3331A>G (p.Lys1111Glu)
NM_005045.4(RELN):c.3339G>T (p.Gly1113=) rs1831543602
NM_005045.4(RELN):c.3340A>G (p.Lys1114Glu)
NM_005045.4(RELN):c.3353T>C (p.Val1118Ala)
NM_005045.4(RELN):c.337+4A>T rs1326392159
NM_005045.4(RELN):c.3379G>A (p.Val1127Met) rs1160249328
NM_005045.4(RELN):c.338G>A (p.Gly113Glu)
NM_005045.4(RELN):c.3403C>G (p.Gln1135Glu) rs1831542452
NM_005045.4(RELN):c.3405_3406delinsTT (p.Gln1135_Ile1136delinsHisLeu) rs2117255146
NM_005045.4(RELN):c.343A>C (p.Met115Leu) rs1793329222
NM_005045.4(RELN):c.3451G>C (p.Glu1151Gln)
NM_005045.4(RELN):c.3455G>A (p.Gly1152Asp) rs1831541293
NM_005045.4(RELN):c.346T>A (p.Ser116Thr) rs1793329078
NM_005045.4(RELN):c.346T>C (p.Ser116Pro) rs1793329078
NM_005045.4(RELN):c.3496C>T (p.His1166Tyr) rs1166173010
NM_005045.4(RELN):c.352C>T (p.His118Tyr) rs1793328921
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val) rs773320636
NM_005045.4(RELN):c.3548A>G (p.Tyr1183Cys)
NM_005045.4(RELN):c.3552_3553delinsTA (p.Glu1185Lys) rs1831492761
NM_005045.4(RELN):c.3562G>A (p.Ala1188Thr) rs2117250423
NM_005045.4(RELN):c.3598T>G (p.Trp1200Gly) rs1831491786
NM_005045.4(RELN):c.35T>G (p.Leu12Arg)
NM_005045.4(RELN):c.3619_3620inv (p.Glu1207Ser)
NM_005045.4(RELN):c.3643G>A (p.Asp1215Asn) rs1252404801
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val) rs1057524179
NM_005045.4(RELN):c.3665A>T (p.Glu1222Val) rs2117250095
NM_005045.4(RELN):c.3680T>C (p.Ile1227Thr) rs1584326923
NM_005045.4(RELN):c.3691A>G (p.Ile1231Val)
NM_005045.4(RELN):c.3745A>G (p.Met1249Val) rs148751867
NM_005045.4(RELN):c.374T>C (p.Met125Thr) rs1793328118
NM_005045.4(RELN):c.3755T>C (p.Met1252Thr)
NM_005045.4(RELN):c.3772T>G (p.Leu1258Val)
NM_005045.4(RELN):c.3803C>A (p.Thr1268Asn) rs2117248784
NM_005045.4(RELN):c.3808T>C (p.Cys1270Arg) rs2117248747
NM_005045.4(RELN):c.3815C>T (p.Ala1272Val) rs375784624
NM_005045.4(RELN):c.3817A>G (p.Thr1273Ala) rs1831475227
NM_005045.4(RELN):c.3833T>C (p.Ile1278Thr)
NM_005045.4(RELN):c.3845C>T (p.Ser1282Leu)
NM_005045.4(RELN):c.3848A>T (p.Asp1283Val) rs2117248656
NM_005045.4(RELN):c.3865G>A (p.Val1289Ile) rs1190582008
NM_005045.4(RELN):c.3868A>G (p.Thr1290Ala)
NM_005045.4(RELN):c.3874G>A (p.Asp1292Asn)
NM_005045.4(RELN):c.3888A>T (p.Lys1296Asn) rs745587949
NM_005045.4(RELN):c.3895T>C (p.Tyr1299His)
NM_005045.4(RELN):c.3896A>G (p.Tyr1299Cys)
NM_005045.4(RELN):c.3905A>T (p.Gln1302Leu)
NM_005045.4(RELN):c.3906G>C (p.Gln1302His) rs1554386837
NM_005045.4(RELN):c.3919A>G (p.Ile1307Val)
NM_005045.4(RELN):c.3946A>C (p.Thr1316Pro)
NM_005045.4(RELN):c.3947C>T (p.Thr1316Ile) rs1402063651
NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup) rs1831367827
NM_005045.4(RELN):c.3971C>G (p.Ser1324Cys)
NM_005045.4(RELN):c.3973C>T (p.His1325Tyr)
NM_005045.4(RELN):c.3987G>A (p.Met1329Ile)
NM_005045.4(RELN):c.4003A>G (p.Lys1335Glu)
NM_005045.4(RELN):c.4008A>C (p.Glu1336Asp) rs2117239786
NM_005045.4(RELN):c.4010G>C (p.Gly1337Ala) rs1289449043
NM_005045.4(RELN):c.4013G>A (p.Cys1338Tyr)
NM_005045.4(RELN):c.4031G>A (p.Gly1344Asp) rs1831365750
NM_005045.4(RELN):c.4063A>G (p.Ser1355Gly) rs1831364343
NM_005045.4(RELN):c.4063A>T (p.Ser1355Cys) rs1831364343
NM_005045.4(RELN):c.4088G>A (p.Gly1363Glu)
NM_005045.4(RELN):c.40G>T (p.Ala14Ser) rs147551940
NM_005045.4(RELN):c.4105A>G (p.Thr1369Ala)
NM_005045.4(RELN):c.410C>T (p.Pro137Leu)
NM_005045.4(RELN):c.4110A>C (p.Arg1370Ser) rs1584322632
NM_005045.4(RELN):c.4118T>A (p.Ile1373Asn) rs529801155
NM_005045.4(RELN):c.4145+5A>G
NM_005045.4(RELN):c.4146-4A>G rs2117208520
NM_005045.4(RELN):c.4146C>G (p.Ser1382Arg)
NM_005045.4(RELN):c.4160G>A (p.Arg1387Gln) rs1259371944
NM_005045.4(RELN):c.4166T>C (p.Ile1389Thr) rs758093276
NM_005045.4(RELN):c.416C>T (p.Thr139Ile)
NM_005045.4(RELN):c.4174AGC[3] (p.Ser1394dup) rs1478314996
NM_005045.4(RELN):c.4176C>G (p.Ser1392Arg) rs765007573
NM_005045.4(RELN):c.4192G>A (p.Val1398Met)
NM_005045.4(RELN):c.4192G>T (p.Val1398Leu)
NM_005045.4(RELN):c.4195C>T (p.Pro1399Ser)
NM_005045.4(RELN):c.4196C>T (p.Pro1399Leu)
NM_005045.4(RELN):c.4214G>T (p.Gly1405Val) rs1562900485
NM_005045.4(RELN):c.4222A>C (p.Ile1408Leu) rs1381220339
NM_005045.4(RELN):c.4226C>G (p.Ser1409Cys)
NM_005045.4(RELN):c.424A>C (p.Ser142Arg)
NM_005045.4(RELN):c.4255C>T (p.His1419Tyr) rs2117208208
NM_005045.4(RELN):c.425G>T (p.Ser142Ile)
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu) rs1235295586
NM_005045.4(RELN):c.4269T>G (p.Ile1423Met) rs1830979263
NM_005045.4(RELN):c.4303+5G>A rs1374880951
NM_005045.4(RELN):c.4311A>T (p.Gln1437His) rs770565114
NM_005045.4(RELN):c.4321G>A (p.Val1441Met) rs752744198
NM_005045.4(RELN):c.4327A>C (p.Asn1443His)
NM_005045.4(RELN):c.4336A>T (p.Asn1446Tyr) rs1319983959
NM_005045.4(RELN):c.4339C>G (p.His1447Asp)
NM_005045.4(RELN):c.4346A>C (p.Glu1449Ala) rs2117205481
NM_005045.4(RELN):c.4348A>G (p.Met1450Val)
NM_005045.4(RELN):c.4349T>C (p.Met1450Thr)
NM_005045.4(RELN):c.4353C>G (p.Phe1451Leu) rs370743731
NM_005045.4(RELN):c.4366G>A (p.Gly1456Arg) rs1830946543
NM_005045.4(RELN):c.4372C>T (p.Leu1458Phe)
NM_005045.4(RELN):c.4388A>C (p.Tyr1463Ser) rs1468303240
NM_005045.4(RELN):c.4402G>A (p.Ala1468Thr) rs1451901900
NM_005045.4(RELN):c.4403C>G (p.Ala1468Gly) rs1442056564
NM_005045.4(RELN):c.4415C>G (p.Thr1472Ser) rs1830944848
NM_005045.4(RELN):c.4427C>T (p.Thr1476Ile)
NM_005045.4(RELN):c.4435G>A (p.Asp1479Asn) rs781311212
NM_005045.4(RELN):c.4437T>A (p.Asp1479Glu) rs200920818
NM_005045.4(RELN):c.4440C>T (p.Gly1480=) rs758393207
NM_005045.4(RELN):c.445C>T (p.Pro149Ser) rs374263472
NM_005045.4(RELN):c.446C>G (p.Pro149Arg)
NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys) rs764417211
NM_005045.4(RELN):c.4477G>A (p.Ala1493Thr) rs1307056370
NM_005045.4(RELN):c.4478C>T (p.Ala1493Val) rs1248208606
NM_005045.4(RELN):c.4489C>T (p.Pro1497Ser) rs2117205011
NM_005045.4(RELN):c.4496A>G (p.Asp1499Gly)
NM_005045.4(RELN):c.4507A>G (p.Ile1503Val) rs779797168
NM_005045.4(RELN):c.4507A>T (p.Ile1503Phe) rs779797168
NM_005045.4(RELN):c.4511+5C>T
NM_005045.4(RELN):c.4517T>A (p.Val1506Asp) rs1554381609
NM_005045.4(RELN):c.4520A>T (p.Gln1507Leu)
NM_005045.4(RELN):c.4534A>G (p.Ile1512Val)
NM_005045.4(RELN):c.4541G>A (p.Ser1514Asn)
NM_005045.4(RELN):c.4543A>G (p.Lys1515Glu) rs946390770
NM_005045.4(RELN):c.4547C>G (p.Thr1516Ser)
NM_005045.4(RELN):c.454A>G (p.Thr152Ala)
NM_005045.4(RELN):c.4556T>C (p.Ile1519Thr)
NM_005045.4(RELN):c.4576A>G (p.Thr1526Ala) rs1393256777
NM_005045.4(RELN):c.4577C>G (p.Thr1526Ser) rs2117200905
NM_005045.4(RELN):c.4582A>G (p.Asn1528Asp)
NM_005045.4(RELN):c.4601A>G (p.Gln1534Arg)
NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr) rs753346658
NM_005045.4(RELN):c.4612G>A (p.Asp1538Asn) rs1210883875
NM_005045.4(RELN):c.4613A>G (p.Asp1538Gly)
NM_005045.4(RELN):c.4621A>G (p.Ile1541Val)
NM_005045.4(RELN):c.4630C>G (p.His1544Asp)
NM_005045.4(RELN):c.4718C>T (p.Thr1573Met) rs762922371
NM_005045.4(RELN):c.473+6T>C rs770023998
NM_005045.4(RELN):c.4737A>T (p.Gln1579His) rs768948021
NM_005045.4(RELN):c.4739C>G (p.Pro1580Arg) rs1488556290
NM_005045.4(RELN):c.474-3C>T rs2116212304
NM_005045.4(RELN):c.4745A>G (p.His1582Arg) rs932665576
NM_005045.4(RELN):c.4746T>G (p.His1582Gln)
NM_005045.4(RELN):c.4747+5G>T
NM_005045.4(RELN):c.4751A>G (p.Lys1584Arg)
NM_005045.4(RELN):c.4760C>T (p.Ala1587Val) rs2117188595
NM_005045.4(RELN):c.4775A>G (p.Asp1592Gly) rs961895163
NM_005045.4(RELN):c.4777G>A (p.Asp1593Asn)
NM_005045.4(RELN):c.4793T>A (p.Met1598Lys)
NM_005045.4(RELN):c.479C>T (p.Thr160Ile) rs2116212281
NM_005045.4(RELN):c.4808A>C (p.Gln1603Pro) rs552290322
NM_005045.4(RELN):c.482C>A (p.Ala161Glu) rs2116212265
NM_005045.4(RELN):c.4832A>G (p.Asp1611Gly)
NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe) rs201945386
NM_005045.4(RELN):c.4842A>G (p.Ile1614Met)
NM_005045.4(RELN):c.4855A>G (p.Asn1619Asp) rs1830750187
NM_005045.4(RELN):c.4868T>C (p.Ile1623Thr)
NM_005045.4(RELN):c.4871A>G (p.Gln1624Arg)
NM_005045.4(RELN):c.4880A>G (p.Gln1627Arg) rs1273427587
NM_005045.4(RELN):c.4881A>C (p.Gln1627His)
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu) rs1436133395
NM_005045.4(RELN):c.4888A>G (p.Ile1630Val)
NM_005045.4(RELN):c.488A>G (p.His163Arg) rs2116212240
NM_005045.4(RELN):c.4891G>A (p.Asp1631Asn)
NM_005045.4(RELN):c.4904T>C (p.Met1635Thr)
NM_005045.4(RELN):c.4905G>A (p.Met1635Ile) rs1423049871
NM_005045.4(RELN):c.4912G>T (p.Ala1638Ser)
NM_005045.4(RELN):c.4913C>A (p.Ala1638Asp) rs1217207298
NM_005045.4(RELN):c.4934T>A (p.Ile1645Lys) rs537366000
NM_005045.4(RELN):c.4936+5A>G rs1554380236
NM_005045.4(RELN):c.4943C>T (p.Pro1648Leu) rs749050390
NM_005045.4(RELN):c.4949A>C (p.Tyr1650Ser)
NM_005045.4(RELN):c.4955A>C (p.Glu1652Ala)
NM_005045.4(RELN):c.4969C>T (p.His1657Tyr)
NM_005045.4(RELN):c.4972G>A (p.Val1658Met)
NM_005045.4(RELN):c.497A>G (p.Gln166Arg) rs2116212190
NM_005045.4(RELN):c.4996T>C (p.Phe1666Leu)
NM_005045.4(RELN):c.5006G>A (p.Ser1669Asn)
NM_005045.4(RELN):c.5009_5020del (p.Met1670_Ser1673del)
NM_005045.4(RELN):c.500T>A (p.Val167Asp)
NM_005045.4(RELN):c.5030G>A (p.Ser1677Asn) rs1830729426
NM_005045.4(RELN):c.5044G>A (p.Val1682Ile) rs727504125
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
NM_005045.4(RELN):c.5069A>T (p.Asn1690Ile) rs1830728121
NM_005045.4(RELN):c.5077G>A (p.Asp1693Asn) rs1487716758
NM_005045.4(RELN):c.5102G>A (p.Cys1701Tyr) rs746597375
NM_005045.4(RELN):c.5128C>A (p.His1710Asn) rs1830725754
NM_005045.4(RELN):c.5168A>T (p.Gln1723Leu)
NM_005045.4(RELN):c.5197C>T (p.Pro1733Ser)
NM_005045.4(RELN):c.5198C>T (p.Pro1733Leu)
NM_005045.4(RELN):c.5207C>T (p.Thr1736Ile)
NM_005045.4(RELN):c.5210+6A>T rs2117185798
NM_005045.4(RELN):c.5210T>A (p.Ile1737Asn)
NM_005045.4(RELN):c.5210T>C (p.Ile1737Thr) rs202116849
NM_005045.4(RELN):c.521C>A (p.Ala174Asp) rs1791748632
NM_005045.4(RELN):c.5224C>T (p.Arg1742Trp)
NM_005045.4(RELN):c.523C>G (p.Gln175Glu)
NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys)
NM_005045.4(RELN):c.5248_5249delinsCT (p.Tyr1750Leu) rs2117178648
NM_005045.4(RELN):c.524A>G (p.Gln175Arg)
NM_005045.4(RELN):c.5255T>C (p.Val1752Ala) rs1165004470
NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu) rs1554379129
NM_005045.4(RELN):c.5260G>A (p.Ala1754Thr) rs1830650545
NM_005045.4(RELN):c.527A>C (p.Gln176Pro)
NM_005045.4(RELN):c.5287G>T (p.Val1763Leu)
NM_005045.4(RELN):c.528G>T (p.Gln176His)
NM_005045.4(RELN):c.52_63dup (p.Gly18_Leu21dup) rs758519950
NM_005045.4(RELN):c.5303G>A (p.Cys1768Tyr)
NM_005045.4(RELN):c.5305C>T (p.Pro1769Ser)
NM_005045.4(RELN):c.531G>C (p.Leu177Phe) rs746290551
NM_005045.4(RELN):c.5329A>G (p.Ile1777Val)
NM_005045.4(RELN):c.5380T>C (p.Cys1794Arg)
NM_005045.4(RELN):c.5389G>T (p.Val1797Phe)
NM_005045.4(RELN):c.539A>G (p.Gln180Arg)
NM_005045.4(RELN):c.53G>T (p.Gly18Val)
NM_005045.4(RELN):c.5408T>C (p.Ile1803Thr) rs1584296775
NM_005045.4(RELN):c.5418_5420del (p.Asp1807del) rs1830643936
NM_005045.4(RELN):c.544+5G>A
NM_005045.4(RELN):c.5464G>A (p.Gly1822Ser)
NM_005045.4(RELN):c.5465G>A (p.Gly1822Asp) rs141734678
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.5474G>C (p.Arg1825Thr) rs368478306
NM_005045.4(RELN):c.5476G>A (p.Gly1826Arg) rs1830642360
NM_005045.4(RELN):c.5477G>A (p.Gly1826Glu)
NM_005045.4(RELN):c.5499C>G (p.Ile1833Met)
NM_005045.4(RELN):c.5513C>G (p.Ser1838Cys)
NM_005045.4(RELN):c.5528G>A (p.Gly1843Glu) rs114313194
NM_005045.4(RELN):c.5528G>T (p.Gly1843Val)
NM_005045.4(RELN):c.5529+10A>C
NM_005045.4(RELN):c.5529+6del
NM_005045.4(RELN):c.553G>T (p.Asp185Tyr) rs1480297004
NM_005045.4(RELN):c.5540G>A (p.Arg1847Lys)
NM_005045.4(RELN):c.5541G>T (p.Arg1847Ser)
NM_005045.4(RELN):c.5545C>T (p.Leu1849Phe)
NM_005045.4(RELN):c.5549T>C (p.Ile1850Thr) rs1830563554
NM_005045.4(RELN):c.5558A>T (p.Asp1853Val)
NM_005045.4(RELN):c.5576C>T (p.Thr1859Ile)
NM_005045.4(RELN):c.5579T>C (p.Met1860Thr)
NM_005045.4(RELN):c.5584G>A (p.Val1862Ile)
NM_005045.4(RELN):c.5594C>T (p.Ser1865Leu)
NM_005045.4(RELN):c.55G>T (p.Ala19Ser)
NM_005045.4(RELN):c.5600G>C (p.Arg1867Thr) rs1830562342
NM_005045.4(RELN):c.5606T>G (p.Ile1869Arg)
NM_005045.4(RELN):c.5613A>C (p.Lys1871Asn)
NM_005045.4(RELN):c.5629T>A (p.Ser1877Thr)
NM_005045.4(RELN):c.563T>C (p.Val188Ala)
NM_005045.4(RELN):c.566A>G (p.His189Arg) rs2116084828
NM_005045.4(RELN):c.5672C>G (p.Thr1891Ser) rs750831468
NM_005045.4(RELN):c.5677C>T (p.His1893Tyr) rs1468373493
NM_005045.4(RELN):c.5684T>C (p.Met1895Thr) rs1584292884
NM_005045.4(RELN):c.5711C>A (p.Thr1904Lys) rs114190729
NM_005045.4(RELN):c.5718A>G (p.Ile1906Met) rs1830539198
NM_005045.4(RELN):c.5729A>G (p.Asn1910Ser)
NM_005045.4(RELN):c.572A>T (p.His191Leu) rs918350971
NM_005045.4(RELN):c.5731G>A (p.Val1911Ile) rs1830538855
NM_005045.4(RELN):c.5746A>G (p.Thr1916Ala) rs768731886
NM_005045.4(RELN):c.5753A>G (p.Gln1918Arg) rs1830538254
NM_005045.4(RELN):c.5774G>C (p.Arg1925Thr) rs779201520
NM_005045.4(RELN):c.578-3T>G
NM_005045.4(RELN):c.578-3del rs1047136329
NM_005045.4(RELN):c.5782C>A (p.Gln1928Lys)
NM_005045.4(RELN):c.5784A>T (p.Gln1928His)
NM_005045.4(RELN):c.5786C>G (p.Pro1929Arg)
NM_005045.4(RELN):c.5788T>C (p.Tyr1930His) rs956716779
NM_005045.4(RELN):c.5798-10A>G
NM_005045.4(RELN):c.5798G>T (p.Gly1933Val) rs1830467765
NM_005045.4(RELN):c.5802G>C (p.Lys1934Asn)
NM_005045.4(RELN):c.5804A>C (p.Lys1935Thr) rs1830467705
NM_005045.4(RELN):c.5838C>G (p.Ile1946Met)
NM_005045.4(RELN):c.5839G>T (p.Asp1947Tyr)
NM_005045.4(RELN):c.5866A>T (p.Met1956Leu) rs1410345577
NM_005045.4(RELN):c.5876A>G (p.Asp1959Gly) rs1830465679
NM_005045.4(RELN):c.5879C>A (p.Thr1960Lys)
NM_005045.4(RELN):c.5886T>A (p.Asp1962Glu) rs2117159839
NM_005045.4(RELN):c.5903A>T (p.Asp1968Val) rs1284690672
NM_005045.4(RELN):c.5909G>T (p.Trp1970Leu)
NM_005045.4(RELN):c.5918A>C (p.Tyr1973Ser)
NM_005045.4(RELN):c.5920C>G (p.Pro1974Ala)
NM_005045.4(RELN):c.5924G>A (p.Gly1975Asp)
NM_005045.4(RELN):c.5926G>A (p.Gly1976Ser)
NM_005045.4(RELN):c.592G>C (p.Asp198His)
NM_005045.4(RELN):c.5947C>G (p.Pro1983Ala) rs2117159651
NM_005045.4(RELN):c.5953T>G (p.Ser1985Ala) rs2117159627
NM_005045.4(RELN):c.5965G>T (p.Ala1989Ser) rs1233107226
NM_005045.4(RELN):c.5969+3A>G rs1290900424
NM_005045.4(RELN):c.596G>A (p.Ser199Asn)
NM_005045.4(RELN):c.5987T>C (p.Met1996Thr)
NM_005045.4(RELN):c.5A>G (p.Glu2Gly)
NM_005045.4(RELN):c.6017A>T (p.His2006Leu)
NM_005045.4(RELN):c.601A>G (p.Ile201Val)
NM_005045.4(RELN):c.6020C>A (p.Ser2007Tyr) rs1830456753
NM_005045.4(RELN):c.602T>C (p.Ile201Thr)
NM_005045.4(RELN):c.6048T>G (p.Asn2016Lys)
NM_005045.4(RELN):c.6077A>G (p.Asn2026Ser) rs1830405923
NM_005045.4(RELN):c.6083G>A (p.Gly2028Asp) rs1584287058
NM_005045.4(RELN):c.6127T>C (p.Phe2043Leu) rs2117153454
NM_005045.4(RELN):c.6134G>C (p.Arg2045Thr)
NM_005045.4(RELN):c.6142G>A (p.Gly2048Arg) rs1359142697
NM_005045.4(RELN):c.6148A>G (p.Thr2050Ala) rs2117153371
NM_005045.4(RELN):c.6166C>A (p.Pro2056Thr)
NM_005045.4(RELN):c.6169C>T (p.Leu2057Phe)
NM_005045.4(RELN):c.6173G>A (p.Cys2058Tyr)
NM_005045.4(RELN):c.6179A>G (p.His2060Arg) rs1830402483
NM_005045.4(RELN):c.6185G>A (p.Ser2062Asn)
NM_005045.4(RELN):c.6190C>G (p.His2064Asp) rs767258528
NM_005045.4(RELN):c.6233C>T (p.Thr2078Ile)
NM_005045.4(RELN):c.6244G>A (p.Gly2082Arg)
NM_005045.4(RELN):c.6245G>T (p.Gly2082Val) rs2117153080
NM_005045.4(RELN):c.6254A>C (p.Gln2085Pro)
NM_005045.4(RELN):c.6271G>T (p.Val2091Phe)
NM_005045.4(RELN):c.6274G>C (p.Val2092Leu) rs752081680
NM_005045.4(RELN):c.6279C>A (p.His2093Gln) rs1830399411
NM_005045.4(RELN):c.6296T>C (p.Leu2099Pro)
NM_005045.4(RELN):c.62T>C (p.Leu21Pro)
NM_005045.4(RELN):c.6301G>A (p.Gly2101Arg)
NM_005045.4(RELN):c.6352C>G (p.Pro2118Ala) rs2117140020
NM_005045.4(RELN):c.6356T>C (p.Val2119Ala)
NM_005045.4(RELN):c.6367A>G (p.Ile2123Val)
NM_005045.4(RELN):c.6368T>C (p.Ile2123Thr) rs2117139982
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser) rs1228682428
NM_005045.4(RELN):c.6386G>A (p.Gly2129Asp)
NM_005045.4(RELN):c.6397GAG[1] (p.Glu2134del) rs1420723549
NM_005045.4(RELN):c.641T>C (p.Leu214Ser) rs2116064367
NM_005045.4(RELN):c.6425G>A (p.Cys2142Tyr)
NM_005045.4(RELN):c.642A>C (p.Leu214Phe)
NM_005045.4(RELN):c.6431A>T (p.Asn2144Ile) rs776658515
NM_005045.4(RELN):c.6445A>G (p.Ile2149Val) rs2117139774
NM_005045.4(RELN):c.6454C>T (p.Pro2152Ser) rs1830265054
NM_005045.4(RELN):c.6506T>C (p.Leu2169Pro) rs1830259342
NM_005045.4(RELN):c.6528G>T (p.Gln2176His) rs1830203883
NM_005045.4(RELN):c.652A>G (p.Ile218Val)
NM_005045.4(RELN):c.653T>C (p.Ile218Thr)
NM_005045.4(RELN):c.654A>G (p.Ile218Met)
NM_005045.4(RELN):c.6552A>C (p.Leu2184Phe)
NM_005045.4(RELN):c.6554T>A (p.Met2185Lys) rs2117134647
NM_005045.4(RELN):c.6558T>G (p.Ser2186Arg) rs2117134632
NM_005045.4(RELN):c.6563G>C (p.Gly2188Ala)
NM_005045.4(RELN):c.657-3C>T
NM_005045.4(RELN):c.6575G>A (p.Arg2192Gln)
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro) rs1309424440
NM_005045.4(RELN):c.6576A>T (p.Arg2192=) rs1228407959
NM_005045.4(RELN):c.6580T>C (p.Cys2194Arg)
NM_005045.4(RELN):c.6603C>A (p.Asn2201Lys) rs1830202355
NM_005045.4(RELN):c.6607C>T (p.Leu2203Phe) rs1296074586
NM_005045.4(RELN):c.6616A>G (p.Asn2206Asp) rs1200171328
NM_005045.4(RELN):c.6617A>G (p.Asn2206Ser) rs1830201721
NM_005045.4(RELN):c.663A>T (p.Glu221Asp) rs1355761301
NM_005045.4(RELN):c.6644C>T (p.Thr2215Ile) rs2117134357
NM_005045.4(RELN):c.665G>A (p.Cys222Tyr)
NM_005045.4(RELN):c.6671+4A>T rs1830200491
NM_005045.4(RELN):c.668A>G (p.Asn223Ser)
NM_005045.4(RELN):c.669C>G (p.Asn223Lys) rs773006128
NM_005045.4(RELN):c.6721C>T (p.Pro2241Ser) rs1830152580
NM_005045.4(RELN):c.6722C>T (p.Pro2241Leu) rs1830152521
NM_005045.4(RELN):c.6727A>G (p.Ser2243Gly)
NM_005045.4(RELN):c.6736G>T (p.Val2246Leu)
NM_005045.4(RELN):c.6747G>T (p.Gln2249His) rs1197417084
NM_005045.4(RELN):c.6752C>G (p.Ser2251Cys) rs2117129658
NM_005045.4(RELN):c.6759C>A (p.Asn2253Lys) rs548135273
NM_005045.4(RELN):c.675T>G (p.Cys225Trp)
NM_005045.4(RELN):c.6760G>A (p.Gly2254Ser)
NM_005045.4(RELN):c.6760G>T (p.Gly2254Cys)
NM_005045.4(RELN):c.6767T>C (p.Leu2256Pro)
NM_005045.4(RELN):c.6769T>C (p.Ser2257Pro)
NM_005045.4(RELN):c.67G>A (p.Ala23Thr)
NM_005045.4(RELN):c.6814G>A (p.Val2272Met) rs2117129475
NM_005045.4(RELN):c.6814G>C (p.Val2272Leu)
NM_005045.4(RELN):c.6818G>A (p.Gly2273Asp) rs1830149876
NM_005045.4(RELN):c.6826A>G (p.Ile2276Val)
NM_005045.4(RELN):c.6839T>A (p.Ile2280Lys) rs1584276518
NM_005045.4(RELN):c.6850G>A (p.Ala2284Thr)
NM_005045.4(RELN):c.6854G>A (p.Arg2285His) rs116394157
NM_005045.4(RELN):c.6871C>T (p.Leu2291Phe) rs1830148402
NM_005045.4(RELN):c.6875G>T (p.Arg2292Leu)
NM_005045.4(RELN):c.6908A>G (p.Tyr2303Cys)
NM_005045.4(RELN):c.690G>C (p.Gln230His) rs1302068842
NM_005045.4(RELN):c.6927T>G (p.Asp2309Glu) rs779047538
NM_005045.4(RELN):c.6929A>G (p.Gln2310Arg) rs2117129132
NM_005045.4(RELN):c.6931-8C>G
NM_005045.4(RELN):c.6962C>A (p.Thr2321Lys)
NM_005045.4(RELN):c.6977A>G (p.Asp2326Gly) rs1830124301
NM_005045.4(RELN):c.6989T>C (p.Leu2330Pro) rs2117126990
NM_005045.4(RELN):c.7012C>T (p.His2338Tyr) rs2117126938
NM_005045.4(RELN):c.7015C>T (p.Pro2339Ser)
NM_005045.4(RELN):c.7016C>A (p.Pro2339Gln)
NM_005045.4(RELN):c.7022G>A (p.Gly2341Asp) rs1830123310
NM_005045.4(RELN):c.7043G>A (p.Gly2348Asp) rs1226611405
NM_005045.4(RELN):c.7054G>A (p.Asp2352Asn)
NM_005045.4(RELN):c.7063G>T (p.Val2355Phe) rs1442114983
NM_005045.4(RELN):c.7085C>T (p.Thr2362Ile) rs749494726
NM_005045.4(RELN):c.7088G>A (p.Arg2363His)
NM_005045.4(RELN):c.7093G>C (p.Val2365Leu)
NM_005045.4(RELN):c.7097T>A (p.Val2366Asp) rs1830121221
NM_005045.4(RELN):c.7102A>G (p.Thr2368Ala)
NM_005045.4(RELN):c.7109T>C (p.Val2370Ala)
NM_005045.4(RELN):c.7117A>C (p.Asn2373His)
NM_005045.4(RELN):c.7119T>G (p.Asn2373Lys) rs1830120492
NM_005045.4(RELN):c.7172C>G (p.Ser2391Cys) rs2117126476
NM_005045.4(RELN):c.7180G>A (p.Ala2394Thr)
NM_005045.4(RELN):c.7231G>A (p.Val2411Ile) rs375160285
NM_005045.4(RELN):c.7243C>G (p.Leu2415Val)
NM_005045.4(RELN):c.7256T>C (p.Val2419Ala) rs777442978
NM_005045.4(RELN):c.7267C>A (p.Arg2423Ser)
NM_005045.4(RELN):c.7281A>G (p.Gln2427=) rs1830026530
NM_005045.4(RELN):c.7283G>A (p.Arg2428Gln) rs948422815
NM_005045.4(RELN):c.7305C>G (p.Phe2435Leu)
NM_005045.4(RELN):c.7305CAA[1] (p.Asn2436del) rs1830026038
NM_005045.4(RELN):c.7316C>T (p.Thr2439Ile)
NM_005045.4(RELN):c.7350-10T>A rs751104633
NM_005045.4(RELN):c.7370G>A (p.Arg2457His) rs371157614
NM_005045.4(RELN):c.7376A>G (p.His2459Arg)
NM_005045.4(RELN):c.7384G>C (p.Ala2462Pro)
NM_005045.4(RELN):c.7386_7387delinsAA (p.Pro2463Thr)
NM_005045.4(RELN):c.7432G>A (p.Gly2478Arg)
NM_005045.4(RELN):c.7436A>G (p.Asp2479Gly)
NM_005045.4(RELN):c.7460G>C (p.Gly2487Ala)
NM_005045.4(RELN):c.7475T>C (p.Ile2492Thr)
NM_005045.4(RELN):c.7484A>T (p.Asn2495Ile)
NM_005045.4(RELN):c.748G>A (p.Glu250Lys) rs199961531
NM_005045.4(RELN):c.7498G>A (p.Glu2500Lys) rs1554369707
NM_005045.4(RELN):c.7540C>T (p.Leu2514Phe) rs1829722994
NM_005045.4(RELN):c.7577C>T (p.Pro2526Leu) rs1829721999
NM_005045.4(RELN):c.7601T>C (p.Val2534Ala)
NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys) rs750764421
NM_005045.4(RELN):c.7624G>C (p.Val2542Leu) rs1829720851
NM_005045.4(RELN):c.7636G>A (p.Val2546Met)
NM_005045.4(RELN):c.7648A>G (p.Met2550Val) rs1829719853
NM_005045.4(RELN):c.7660T>C (p.Phe2554Leu) rs2117091992
NM_005045.4(RELN):c.7668G>A (p.Gly2556=)
NM_005045.4(RELN):c.7668G>C (p.Gly2556=) rs1554369642
NM_005045.4(RELN):c.7696G>A (p.Asp2566Asn)
NM_005045.4(RELN):c.7700T>G (p.Leu2567Arg) rs2117085948
NM_005045.4(RELN):c.7703A>G (p.Asn2568Ser) rs1227007493
NM_005045.4(RELN):c.7722C>A (p.Phe2574Leu) rs2117085900
NM_005045.4(RELN):c.7739T>A (p.Met2580Lys)
NM_005045.4(RELN):c.773C>T (p.Thr258Ile) rs1790120421
NM_005045.4(RELN):c.7742A>G (p.Tyr2581Cys)
NM_005045.4(RELN):c.7799T>C (p.Val2600Ala)
NM_005045.4(RELN):c.7821C>A (p.Asn2607Lys)
NM_005045.4(RELN):c.7821C>G (p.Asn2607Lys)
NM_005045.4(RELN):c.7828A>C (p.Met2610Leu) rs200076453
NM_005045.4(RELN):c.782C>T (p.Ala261Val)
NM_005045.4(RELN):c.7834A>C (p.Ile2612Leu)
NM_005045.4(RELN):c.7834A>G (p.Ile2612Val) rs768772335
NM_005045.4(RELN):c.7839C>G (p.Phe2613Leu)
NM_005045.4(RELN):c.7843G>A (p.Asp2615Asn) rs772130779
NM_005045.4(RELN):c.7852A>G (p.Ser2618Gly)
NM_005045.4(RELN):c.7858C>A (p.Pro2620Thr)
NM_005045.4(RELN):c.7882C>A (p.Pro2628Thr)
NM_005045.4(RELN):c.7886C>G (p.Pro2629Arg)
NM_005045.4(RELN):c.7886C>T (p.Pro2629Leu)
NM_005045.4(RELN):c.7887_7888inv (p.Asp2630Asn)
NM_005045.4(RELN):c.7903G>T (p.Ala2635Ser) rs143751470
NM_005045.4(RELN):c.7909C>A (p.Arg2637Ser)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.7934A>C (p.His2645Pro)
NM_005045.4(RELN):c.7949A>G (p.Gln2650Arg)
NM_005045.4(RELN):c.794A>G (p.Gln265Arg) rs2115907767
NM_005045.4(RELN):c.7959G>C (p.Trp2653Cys)
NM_005045.4(RELN):c.7960G>A (p.Ala2654Thr) rs200915887
NM_005045.4(RELN):c.7966G>A (p.Asp2656Asn)
NM_005045.4(RELN):c.7970A>G (p.Asn2657Ser)
NM_005045.4(RELN):c.7993G>A (p.Asp2665Asn)
NM_005045.4(RELN):c.79G>A (p.Ala27Thr) rs2116860341
NM_005045.4(RELN):c.8002A>G (p.Thr2668Ala) rs1829535471
NM_005045.4(RELN):c.8009T>C (p.Met2670Thr) rs550287694
NM_005045.4(RELN):c.8027G>A (p.Ser2676Asn)
NM_005045.4(RELN):c.8027G>C (p.Ser2676Thr) rs1829534533
NM_005045.4(RELN):c.8035G>C (p.Val2679Leu)
NM_005045.4(RELN):c.8066C>T (p.Ala2689Val) rs762107181
NM_005045.4(RELN):c.8068G>C (p.Gly2690Arg)
NM_005045.4(RELN):c.8074G>T (p.Val2692Phe)
NM_005045.4(RELN):c.8082G>C (p.Arg2694Ser) rs746311326
NM_005045.4(RELN):c.8083A>C (p.Ile2695Leu) rs1829531529
NM_005045.4(RELN):c.8097G>A (p.Met2699Ile) rs1829531012
NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile) rs1554368281
NM_005045.4(RELN):c.8118A>G (p.Ser2706=)
NM_005045.4(RELN):c.8119+6T>G rs767551473
NM_005045.4(RELN):c.8123A>C (p.Asn2708Thr) rs1829391748
NM_005045.4(RELN):c.8130C>A (p.His2710Gln)
NM_005045.4(RELN):c.8155G>A (p.Val2719Ile)
NM_005045.4(RELN):c.8159A>G (p.Glu2720Gly) rs1829390259
NM_005045.4(RELN):c.8171A>T (p.Asp2724Val)
NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)
NM_005045.4(RELN):c.8183G>A (p.Gly2728Asp)
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005045.4(RELN):c.8198G>A (p.Gly2733Asp) rs1296648504
NM_005045.4(RELN):c.8203C>T (p.His2735Tyr) rs1219212571
NM_005045.4(RELN):c.8225C>T (p.Ala2742Val)
NM_005045.4(RELN):c.8249C>T (p.Thr2750Ile)
NM_005045.4(RELN):c.8254G>A (p.Gly2752Ser) rs968146584
NM_005045.4(RELN):c.8259G>C (p.Trp2753Cys)
NM_005045.4(RELN):c.8263A>G (p.Met2755Val)
NM_005045.4(RELN):c.827G>C (p.Ser276Thr)
NM_005045.4(RELN):c.8281G>T (p.Val2761Phe) rs1829094065
NM_005045.4(RELN):c.8306T>C (p.Ile2769Thr) rs997515801
NM_005045.4(RELN):c.8314A>C (p.Asn2772His)
NM_005045.4(RELN):c.8315A>T (p.Asn2772Ile)
NM_005045.4(RELN):c.8327T>G (p.Val2776Gly)
NM_005045.4(RELN):c.832T>C (p.Ser278Pro) rs2115796319
NM_005045.4(RELN):c.8335T>A (p.Ser2779Thr) rs1829091955
NM_005045.4(RELN):c.8371C>T (p.Pro2791Ser) rs2117039679
NM_005045.4(RELN):c.837C>A (p.Asp279Glu) rs1295965524
NM_005045.4(RELN):c.8386G>A (p.Ala2796Thr)
NM_005045.4(RELN):c.838C>G (p.Pro280Ala) rs2115796279
NM_005045.4(RELN):c.8390A>G (p.Asp2797Gly) rs1829089680
NM_005045.4(RELN):c.8391C>G (p.Asp2797Glu) rs1829089585
NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)
NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)
NM_005045.4(RELN):c.8404G>C (p.Gly2802Arg)
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala) rs192835206
NM_005045.4(RELN):c.8414C>T (p.Ser2805Phe)
NM_005045.4(RELN):c.8430C>A (p.Phe2810Leu)
NM_005045.4(RELN):c.8438C>A (p.Thr2813Asn)
NM_005045.4(RELN):c.843C>A (p.Ser281Arg)
NM_005045.4(RELN):c.8440A>G (p.Lys2814Glu) rs2117039456
NM_005045.4(RELN):c.8445G>T (p.Gly2815=)
NM_005045.4(RELN):c.844A>G (p.Ile282Val) rs753624426
NM_005045.4(RELN):c.8453G>T (p.Arg2818Met)
NM_005045.4(RELN):c.8470C>T (p.Pro2824Ser) rs1224908089
NM_005045.4(RELN):c.8486G>A (p.Gly2829Glu)
NM_005045.4(RELN):c.8492C>T (p.Pro2831Leu)
NM_005045.4(RELN):c.8494G>C (p.Val2832Leu)
NM_005045.4(RELN):c.8495T>C (p.Val2832Ala) rs1257978206
NM_005045.4(RELN):c.8500T>C (p.Phe2834Leu)
NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)
NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)
NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)
NM_005045.4(RELN):c.8539A>G (p.Ile2847Val)
NM_005045.4(RELN):c.854T>C (p.Leu285Ser)
NM_005045.4(RELN):c.8551T>C (p.Tyr2851His)
NM_005045.4(RELN):c.8575A>G (p.Asn2859Asp) rs1829002656
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly) rs1829002405
NM_005045.4(RELN):c.857A>G (p.Tyr286Cys)
NM_005045.4(RELN):c.8590G>A (p.Gly2864Arg) rs1456617471
NM_005045.4(RELN):c.859G>A (p.Ala287Thr)
NM_005045.4(RELN):c.859G>T (p.Ala287Ser)
NM_005045.4(RELN):c.8605G>C (p.Glu2869Gln)
NM_005045.4(RELN):c.8624C>G (p.Pro2875Arg) rs761738403
NM_005045.4(RELN):c.862A>G (p.Lys288Glu) rs1834077767
NM_005045.4(RELN):c.8651T>C (p.Leu2884Ser) rs1829000128
NM_005045.4(RELN):c.8653A>T (p.Thr2885Ser)
NM_005045.4(RELN):c.8656C>T (p.His2886Tyr) rs749712401
NM_005045.4(RELN):c.8657A>G (p.His2886Arg) rs778109079
NM_005045.4(RELN):c.865A>G (p.Asn289Asp) rs1562962642
NM_005045.4(RELN):c.8663T>C (p.Leu2888Pro)
NM_005045.4(RELN):c.8667+6G>A
NM_005045.4(RELN):c.8668A>G (p.Thr2890Ala)
NM_005045.4(RELN):c.8672T>A (p.Phe2891Tyr) rs752516448
NM_005045.4(RELN):c.8673C>A (p.Phe2891Leu) rs200157006
NM_005045.4(RELN):c.8683C>A (p.Arg2895Ser)
NM_005045.4(RELN):c.8683C>T (p.Arg2895Cys)
NM_005045.4(RELN):c.8684G>A (p.Arg2895His)
NM_005045.4(RELN):c.8710G>T (p.Asp2904Tyr) rs1828900147
NM_005045.4(RELN):c.8716T>C (p.Trp2906Arg)
NM_005045.4(RELN):c.8723C>T (p.Ser2908Phe)
NM_005045.4(RELN):c.8732G>T (p.Gly2911Val)
NM_005045.4(RELN):c.8737A>G (p.Ser2913Gly) rs2117025482
NM_005045.4(RELN):c.874G>C (p.Ala292Pro) rs1478514178
NM_005045.4(RELN):c.875C>G (p.Ala292Gly) rs138975479
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu) rs1465519249
NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr) rs750491016
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val) rs765433534
NM_005045.4(RELN):c.8812G>A (p.Val2938Ile)
NM_005045.4(RELN):c.8827G>C (p.Asp2943His) rs1828895929
NM_005045.4(RELN):c.883A>G (p.Ile295Val) rs1834076706
NM_005045.4(RELN):c.8861G>A (p.Gly2954Glu)
NM_005045.4(RELN):c.8864G>A (p.Arg2955His)
NM_005045.4(RELN):c.8879ACA[1] (p.Asn2961del)
NM_005045.4(RELN):c.8888C>T (p.Thr2963Ile)
NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln) rs1562852978
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
NM_005045.4(RELN):c.8930T>C (p.Leu2977Ser)
NM_005045.4(RELN):c.8943C>A (p.Thr2981=) rs199505446
NM_005045.4(RELN):c.8950+12G>A
NM_005045.4(RELN):c.8950+4T>A
NM_005045.4(RELN):c.8953A>G (p.Ile2985Val)
NM_005045.4(RELN):c.8957C>T (p.Thr2986Ile)
NM_005045.4(RELN):c.8962A>T (p.Thr2988Ser)
NM_005045.4(RELN):c.8966T>C (p.Leu2989Ser) rs2117021480
NM_005045.4(RELN):c.8967G>T (p.Leu2989Phe) rs1828853834
NM_005045.4(RELN):c.89A>G (p.Tyr30Cys)
NM_005045.4(RELN):c.8G>T (p.Arg3Leu) rs2116860662
NM_005045.4(RELN):c.9005G>C (p.Arg3002Thr) rs758922383
NM_005045.4(RELN):c.9018A>G (p.Ile3006Met)
NM_005045.4(RELN):c.9022C>T (p.Leu3008Phe) rs2117021193
NM_005045.4(RELN):c.9030_9032del (p.Glu3010del) rs1828851549
NM_005045.4(RELN):c.9053G>A (p.Arg3018Gln) rs1828850685
NM_005045.4(RELN):c.9053G>T (p.Arg3018Leu) rs1828850685
NM_005045.4(RELN):c.9095T>A (p.Val3032Glu)
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala) rs1828849563
NM_005045.4(RELN):c.9108G>A (p.Val3036=)
NM_005045.4(RELN):c.911C>T (p.Ser304Phe)
NM_005045.4(RELN):c.913A>G (p.Asn305Asp)
NM_005045.4(RELN):c.915T>A (p.Asn305Lys)
NM_005045.4(RELN):c.9172T>A (p.Leu3058Met) rs2286261
NM_005045.4(RELN):c.917T>C (p.Val306Ala)
NM_005045.4(RELN):c.9194-10T>A rs1242391167
NM_005045.4(RELN):c.9205C>A (p.His3069Asn) rs1828826425
NM_005045.4(RELN):c.9230C>T (p.Pro3077Leu) rs2117018752
NM_005045.4(RELN):c.9233A>G (p.Asn3078Ser)
NM_005045.4(RELN):c.9235G>T (p.Ala3079Ser)
NM_005045.4(RELN):c.9237_9248del (p.Val3080_Ala3083del) rs2117018688
NM_005045.4(RELN):c.9248C>A (p.Ala3083Glu)
NM_005045.4(RELN):c.9248C>G (p.Ala3083Gly) rs1828825003
NM_005045.4(RELN):c.9263A>G (p.Asn3088Ser)
NM_005045.4(RELN):c.9289A>G (p.Asn3097Asp) rs2117018592
NM_005045.4(RELN):c.929T>A (p.Ile310Asn) rs1351187654
NM_005045.4(RELN):c.92C>T (p.Pro31Leu) rs759623259
NM_005045.4(RELN):c.930C>G (p.Ile310Met)
NM_005045.4(RELN):c.9319C>G (p.Leu3107Val) rs764063544
NM_005045.4(RELN):c.932A>G (p.His311Arg) rs766323203
NM_005045.4(RELN):c.9347C>T (p.Pro3116Leu) rs1166597421
NM_005045.4(RELN):c.9357G>A (p.Met3119Ile)
NM_005045.4(RELN):c.9369+6G>A
NM_005045.4(RELN):c.9379G>T (p.Gly3127Cys)
NM_005045.4(RELN):c.9394T>G (p.Ser3132Ala) rs2117007337
NM_005045.4(RELN):c.9398GTG[1] (p.Gly3134del)
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val) rs767535167
NM_005045.4(RELN):c.9419T>G (p.Met3140Arg)
NM_005045.4(RELN):c.941A>G (p.Tyr314Cys) rs770001337
NM_005045.4(RELN):c.9439G>T (p.Ala3147Ser) rs150485168
NM_005045.4(RELN):c.9442A>C (p.Arg3148=)
NM_005045.4(RELN):c.9443+3T>G
NM_005045.4(RELN):c.9443+4T>C rs1828687122
NM_005045.4(RELN):c.9444A>G (p.Arg3148=) rs1277733317
NM_005045.4(RELN):c.9448G>T (p.Asp3150Tyr)
NM_005045.4(RELN):c.9459G>C (p.Gln3153His) rs1554362509
NM_005045.4(RELN):c.9460C>T (p.Leu3154Phe)
NM_005045.4(RELN):c.9497G>A (p.Ser3166Asn) rs1828622359
NM_005045.4(RELN):c.9499A>T (p.Ile3167Phe) rs2117002216
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly) rs1394617861
NM_005045.4(RELN):c.9520T>C (p.Phe3174Leu)
NM_005045.4(RELN):c.9605+4G>C rs1338699707
NM_005045.4(RELN):c.9605+6T>C rs376881823
NM_005045.4(RELN):c.9606-3C>T rs376550183
NM_005045.4(RELN):c.9611C>T (p.Thr3204Ile)
NM_005045.4(RELN):c.9615G>T (p.Gln3205His) rs2116999262
NM_005045.4(RELN):c.9620G>A (p.Arg3207His) rs992226248
NM_005045.4(RELN):c.9629A>G (p.Gln3210Arg)
NM_005045.4(RELN):c.9635G>A (p.Gly3212Glu)
NM_005045.4(RELN):c.9651G>T (p.Lys3217Asn)
NM_005045.4(RELN):c.9657C>G (p.Ser3219Arg) rs1828587974
NM_005045.4(RELN):c.9659G>T (p.Trp3220Leu)
NM_005045.4(RELN):c.9665T>C (p.Ile3222Thr) rs1828587696
NM_005045.4(RELN):c.9670C>T (p.His3224Tyr)
NM_005045.4(RELN):c.9688G>A (p.Ala3230Thr)
NM_005045.4(RELN):c.9689C>T (p.Ala3230Val) rs1828586673
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg) rs1584222460
NM_005045.4(RELN):c.9715G>A (p.Gly3239Arg) rs1220775268
NM_005045.4(RELN):c.9763+3C>G rs398124195
NM_005045.4(RELN):c.9764-5T>G
NM_005045.4(RELN):c.976T>C (p.Phe326Leu) rs1009178108
NM_005045.4(RELN):c.9793C>A (p.Leu3265Ile)
NM_005045.4(RELN):c.9794T>C (p.Leu3265Pro)
NM_005045.4(RELN):c.9802T>C (p.Tyr3268His)
NM_005045.4(RELN):c.9818T>C (p.Phe3273Ser) rs1828440525
NM_005045.4(RELN):c.9826G>T (p.Ala3276Ser)
NM_005045.4(RELN):c.982T>C (p.Trp328Arg) rs2115780980
NM_005045.4(RELN):c.9840G>T (p.Glu3280Asp)
NM_005045.4(RELN):c.9857T>A (p.Ile3286Asn) rs1828439294
NM_005045.4(RELN):c.986A>T (p.Lys329Met) rs1834014175
NM_005045.4(RELN):c.9880G>A (p.Gly3294Ser)
NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)
NM_005045.4(RELN):c.994A>G (p.Asn332Asp)
NM_005045.4(RELN):c.9958A>C (p.Lys3320Gln)
NM_005045.4(RELN):c.9962C>G (p.Pro3321Arg) rs1828434848
NM_005045.4(RELN):c.9973A>G (p.Thr3325Ala)
NM_005045.4(RELN):c.9979G>A (p.Ala3327Thr)
NM_005045.4(RELN):c.997C>G (p.Leu333Val) rs1219491053
NM_005045.4(RELN):c.9983+5C>A rs1210513203
NM_005045.4(RELN):c.9983+5C>T
NM_005045.4(RELN):c.9991A>G (p.Met3331Val) rs1554360669
NM_005097.4(LGI1):c.1003A>G (p.Ile335Val) rs2134026335
NM_005097.4(LGI1):c.1052G>T (p.Ser351Ile) rs2134026390
NM_005097.4(LGI1):c.1057A>C (p.Lys353Gln) rs2059987771
NM_005097.4(LGI1):c.1064G>C (p.Gly355Ala)
NM_005097.4(LGI1):c.1066T>C (p.Phe356Leu)
NM_005097.4(LGI1):c.1081A>C (p.Lys361Gln) rs141334842
NM_005097.4(LGI1):c.1083A>G (p.Lys361=) rs1337328821
NM_005097.4(LGI1):c.1097G>C (p.Gly366Ala) rs2059988287
NM_005097.4(LGI1):c.1112A>G (p.Gln371Arg) rs2059988505
NM_005097.4(LGI1):c.1171C>T (p.Pro391Ser)
NM_005097.4(LGI1):c.1172C>T (p.Pro391Leu)
NM_005097.4(LGI1):c.1176G>C (p.Gln392His)
NM_005097.4(LGI1):c.1187C>T (p.Thr396Met) rs905576558
NM_005097.4(LGI1):c.1190C>T (p.Pro397Leu) rs2134026607
NM_005097.4(LGI1):c.1219C>G (p.Arg407Gly) rs759897282
NM_005097.4(LGI1):c.1219C>T (p.Arg407Cys)
NM_005097.4(LGI1):c.122A>G (p.Lys41Arg) rs2059585290
NM_005097.4(LGI1):c.1279C>A (p.Pro427Thr) rs2134026723
NM_005097.4(LGI1):c.1283A>G (p.Asn428Ser) rs1589775967
NM_005097.4(LGI1):c.1300G>A (p.Ala434Thr) rs758287710
NM_005097.4(LGI1):c.1306A>G (p.Lys436Glu) rs2134026771
NM_005097.4(LGI1):c.1319T>C (p.Val440Ala)
NM_005097.4(LGI1):c.1325G>A (p.Gly442Glu)
NM_005097.4(LGI1):c.1336A>G (p.Ile446Val)
NM_005097.4(LGI1):c.1369G>A (p.Val457Ile) rs2134026868
NM_005097.4(LGI1):c.1370T>C (p.Val457Ala) rs1554907821
NM_005097.4(LGI1):c.1373T>C (p.Met458Thr)
NM_005097.4(LGI1):c.1381G>A (p.Gly461Arg)
NM_005097.4(LGI1):c.1388C>T (p.Ser463Phe)
NM_005097.4(LGI1):c.1396C>A (p.Gln466Lys)
NM_005097.4(LGI1):c.1403T>C (p.Ile468Thr)
NM_005097.4(LGI1):c.1432G>A (p.Val478Met)
NM_005097.4(LGI1):c.1433T>C (p.Val478Ala)
NM_005097.4(LGI1):c.143G>A (p.Cys48Tyr) rs1554901937
NM_005097.4(LGI1):c.1474C>T (p.Leu492Phe)
NM_005097.4(LGI1):c.1487A>T (p.Tyr496Phe) rs2134027009
NM_005097.4(LGI1):c.1517C>A (p.Ala506Glu) rs1458989376
NM_005097.4(LGI1):c.1525G>A (p.Ala509Thr)
NM_005097.4(LGI1):c.1549T>A (p.Leu517Ile) rs2059992788
NM_005097.4(LGI1):c.154A>G (p.Asn52Asp) rs1216831495
NM_005097.4(LGI1):c.1552A>G (p.Asn518Asp) rs887433567
NM_005097.4(LGI1):c.1580A>G (p.His527Arg) rs2059993019
NM_005097.4(LGI1):c.1586C>T (p.Ser529Phe)
NM_005097.4(LGI1):c.1597C>T (p.Arg533Cys) rs771178397
NM_005097.4(LGI1):c.1611T>G (p.Phe537Leu) rs934608672
NM_005097.4(LGI1):c.1630A>G (p.Asn544Asp)
NM_005097.4(LGI1):c.163T>C (p.Cys55Arg)
NM_005097.4(LGI1):c.1652T>C (p.Val551Ala) rs752672428
NM_005097.4(LGI1):c.1667G>A (p.Ser556Asn)
NM_005097.4(LGI1):c.191C>G (p.Thr64Ser) rs373616721
NM_005097.4(LGI1):c.196C>G (p.Pro66Ala)
NM_005097.4(LGI1):c.206T>C (p.Val69Ala)
NM_005097.4(LGI1):c.215+7C>T rs1589747145
NM_005097.4(LGI1):c.216-3C>T rs1461103422
NM_005097.4(LGI1):c.221T>C (p.Phe74Ser)
NM_005097.4(LGI1):c.248C>T (p.Ser83Leu) rs1279436195
NM_005097.4(LGI1):c.254G>A (p.Gly85Glu) rs2059592627
NM_005097.4(LGI1):c.272C>T (p.Pro91Leu) rs796052693
NM_005097.4(LGI1):c.308T>C (p.Phe103Ser) rs2059804388
NM_005097.4(LGI1):c.313G>A (p.Val105Met)
NM_005097.4(LGI1):c.329C>T (p.Ala110Val)
NM_005097.4(LGI1):c.358T>G (p.Leu120Val) rs796052697
NM_005097.4(LGI1):c.359+7A>C
NM_005097.4(LGI1):c.360-19A>G
NM_005097.4(LGI1):c.361T>A (p.Phe121Ile)
NM_005097.4(LGI1):c.374A>G (p.Asn125Ser)
NM_005097.4(LGI1):c.397C>T (p.His133Tyr)
NM_005097.4(LGI1):c.401C>T (p.Thr134Ile) rs2059806034
NM_005097.4(LGI1):c.431+5G>A rs2134001469
NM_005097.4(LGI1):c.432-3dup rs1554906720
NM_005097.4(LGI1):c.432G>T (p.Leu144Phe) rs920223409
NM_005097.4(LGI1):c.44C>G (p.Pro15Arg)
NM_005097.4(LGI1):c.460C>A (p.Leu154Ile) rs2059923858
NM_005097.4(LGI1):c.464C>T (p.Pro155Leu) rs1589771117
NM_005097.4(LGI1):c.47T>G (p.Leu16Arg) rs1234339369
NM_005097.4(LGI1):c.496A>C (p.Thr166Pro)
NM_005097.4(LGI1):c.512G>C (p.Arg171Thr) rs2134020795
NM_005097.4(LGI1):c.553G>A (p.Val185Met) rs1235699165
NM_005097.4(LGI1):c.55A>G (p.Ile19Val) rs2059584229
NM_005097.4(LGI1):c.572C>A (p.Thr191Asn)
NM_005097.4(LGI1):c.58G>A (p.Ala20Thr) rs2059584327
NM_005097.4(LGI1):c.593T>C (p.Ile198Thr) rs2134020872
NM_005097.4(LGI1):c.601G>A (p.Glu201Lys) rs2134020895
NM_005097.4(LGI1):c.624G>T (p.Lys208Asn) rs2059948178
NM_005097.4(LGI1):c.634A>G (p.Asn212Asp) rs757629755
NM_005097.4(LGI1):c.639T>A (p.Ser213Arg)
NM_005097.4(LGI1):c.64T>A (p.Phe22Ile) rs2133975421
NM_005097.4(LGI1):c.657_658delinsCC (p.Asp220His) rs2134021029
NM_005097.4(LGI1):c.657_658inv (p.Asp220Asn)
NM_005097.4(LGI1):c.674-16T>G
NM_005097.4(LGI1):c.688C>G (p.Gln230Glu)
NM_005097.4(LGI1):c.691G>T (p.Asp231Tyr)
NM_005097.4(LGI1):c.716T>C (p.Ile239Thr)
NM_005097.4(LGI1):c.720C>A (p.Asp240Glu) rs2059951179
NM_005097.4(LGI1):c.726T>G (p.Phe242Leu) rs2059951247
NM_005097.4(LGI1):c.73C>T (p.Leu25Phe)
NM_005097.4(LGI1):c.742_743delinsAT (p.Glu248Met)
NM_005097.4(LGI1):c.749T>G (p.Val250Gly)
NM_005097.4(LGI1):c.757G>T (p.Ala253Ser)
NM_005097.4(LGI1):c.758C>T (p.Ala253Val)
NM_005097.4(LGI1):c.817C>T (p.Arg273Trp) rs760376686
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln) rs750249658
NM_005097.4(LGI1):c.821A>G (p.Asn274Ser)
NM_005097.4(LGI1):c.827ACA[1] (p.Asn277del)
NM_005097.4(LGI1):c.828C>G (p.Asp276Glu)
NM_005097.4(LGI1):c.835A>G (p.Thr279Ala) rs752003436
NM_005097.4(LGI1):c.838+3A>G rs781205119
NM_005097.4(LGI1):c.83C>T (p.Ala28Val)
NM_005097.4(LGI1):c.853G>A (p.Val285Ile) rs944813713
NM_005097.4(LGI1):c.853G>C (p.Val285Leu) rs944813713
NM_005097.4(LGI1):c.862C>T (p.Pro288Ser) rs2059985791
NM_005097.4(LGI1):c.865A>G (p.Ile289Val)
NM_005097.4(LGI1):c.882G>C (p.Gln294His)
NM_005097.4(LGI1):c.907T>C (p.Phe303Leu)
NM_005097.4(LGI1):c.90G>C (p.Leu30Phe) rs1178032111
NM_005097.4(LGI1):c.913G>A (p.Gly305Ser)
NM_005097.4(LGI1):c.932G>A (p.Arg311Gln)
NM_005097.4(LGI1):c.941T>A (p.Phe314Tyr) rs2134026264
NM_005097.4(LGI1):c.992A>C (p.Lys331Thr) rs2059987155
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys) rs1435706864
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser) rs1374602411
NM_005506.4(SCARB2):c.1114-3C>T rs1560705500
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile) rs1732061373
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
NM_005506.4(SCARB2):c.117+3G>A rs1733107604
NM_005506.4(SCARB2):c.117+6G>C rs2109974158
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr) rs1732060256
NM_005506.4(SCARB2):c.1188-3T>C rs1251392642
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr) rs1196467385
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val) rs1405139421
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr) rs2109931937
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile) rs1731937544
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys) rs995674389
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe) rs1578712032
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn) rs1238888097
NM_005506.4(SCARB2):c.1399-11C>G rs1392686046
NM_005506.4(SCARB2):c.140C>T (p.Thr47Ile) rs1732700794
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val) rs755903502
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln) rs1480481844
NM_005506.4(SCARB2):c.1432del (p.Thr478fs) rs756112626
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn) rs2109930564
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser) rs2109960897
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu) rs1287892295
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp) rs1348033527
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu) rs1422181706
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
NM_005506.4(SCARB2):c.256G>A (p.Val86Met) rs1732697033
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro) rs1732696609
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr) rs2109948743
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile) rs1732373905
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln) rs1732373432
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser) rs1732373270
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu) rs2109948680
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.424-19A>G
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg) rs1560710284
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile) rs1732338247
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu) rs1732338247
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys) rs1326652823
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser) rs2109947296
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr) rs756489019
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln) rs751711805
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del) rs1401788267
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser) rs2109947161
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser) rs768181886
NM_005506.4(SCARB2):c.638A>C (p.Tyr213Ser) rs751953388
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met) rs1733110733
NM_005506.4(SCARB2):c.705-3T>C
NM_005506.4(SCARB2):c.705G>A (p.Thr235=) rs2109943699
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly) rs1732242578
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn) rs751498101
NM_005506.4(SCARB2):c.72G>A (p.Leu24=) rs2109974267
NM_005506.4(SCARB2):c.741_743del (p.Met247del) rs1732241629
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe) rs1211983888
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala) rs1732241039
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
NM_005506.4(SCARB2):c.833A>G (p.Tyr278Cys) rs774730087
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser) rs768765087
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln) rs752667549
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln) rs937537878
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val) rs2109941946
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp) rs1732197179
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys) rs1732195814
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile) rs2109941801
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val) rs1732195035
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val) rs2109937871
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln) rs1776814515
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup) rs1339413651
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)
NM_005670.4(EPM2A):c.11G>A (p.Arg4His)
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.141G>A (p.Ala47=) rs1363081086
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu) rs796052422
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys) rs2128650105
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val) rs1776804791
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro) rs1776803315
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln) rs796052424
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr) rs1308438113
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg) rs1776824378
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly) rs1583156284
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup) rs2128649485
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val) rs1263035227
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu) rs1165179833
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro) rs1333556119
NM_005670.4(EPM2A):c.22G>A (p.Val8Met) rs1326700627
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys) rs374826256
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met) rs780634800
NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly) rs1776788119
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu) rs2128649334
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)
NM_005670.4(EPM2A):c.301+5T>G rs776655093
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser) rs1583157330
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr) rs1776822048
NM_005670.4(EPM2A):c.37G>A (p.Val13Met) rs567454946
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu) rs567454946
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser) rs1054138980
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala) rs746523076
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met) rs2128614175
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp) rs1173939028
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr) rs1199898061
NM_005670.4(EPM2A):c.476+5A>G rs1780888090
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys) rs796052431
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del) rs1583157261
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg) rs1776588357
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro) rs1490039469
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln) rs1422428137
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys) rs2128649959
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg) rs1582935082
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) rs1582935082
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser) rs2128562619
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln) rs2128649947
NM_005670.4(EPM2A):c.634A>G (p.Met212Val) rs1562424241
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile) rs1776570738
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr) rs1554256996
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu) rs1776818861
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile) rs2128562483
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu) rs1776818676
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr) rs1776560298
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly) rs104893950
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg) rs749563452
NM_005670.4(EPM2A):c.758A>G (p.His253Arg) rs749937487
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro) rs2128556216
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly) rs1351520468
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.4(EPM2A):c.784G>A (p.Val262Met) rs1582913143
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser) rs778069029
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser) rs1220880720
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys) rs1776816199
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe) rs367551823
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro) rs2128649883
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr) rs1050606699
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu) rs796052428
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) rs1562535536
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg) rs104893955
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys) rs772620616
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe) rs1404589826
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.981T>G (p.Ser327=) rs2128555915
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly) rs2083208096
NM_014467.3(SRPX2):c.1129A>G (p.Thr377Ala) rs1355036934
NM_014467.3(SRPX2):c.112_163+10dup rs2083150642
NM_014467.3(SRPX2):c.1143G>A (p.Leu381=) rs2083214837
NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp) rs762469858
NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val) rs1047926579
NM_014467.3(SRPX2):c.1396T>G (p.Ter466Gly)
NM_014467.3(SRPX2):c.17C>T (p.Thr6Ile) rs1556010625
NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr) rs1398023125
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln) rs200784551
NM_014467.3(SRPX2):c.656C>G (p.Thr219Ser) rs924461236
NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln) rs754500495
NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser) rs2083202209
NM_015973.3(GAL):c.82del rs1594273885
NM_015973.5(GAL):c.16G>A (p.Ala6Thr) rs760551954
NM_015973.5(GAL):c.202C>T (p.Pro68Ser) rs1945870960
NM_015973.5(GAL):c.223+3G>C rs202155593
NM_015973.5(GAL):c.263G>T (p.Arg88Leu) rs778530092
NM_015973.5(GAL):c.311C>T (p.Ala104Val) rs1186237607
NM_015973.5(GAL):c.316G>A (p.Asp106Asn) rs375918368
NM_015973.5(GAL):c.335C>G (p.Pro112Arg) rs1945899167
NM_015973.5(GAL):c.37C>T (p.Leu13Phe) rs956379887
NM_015973.5(GAL):c.55T>C (p.Ser19Pro) rs746008445
NM_015973.5(GAL):c.73_81+37del rs1297993483
NM_015973.5(GAL):c.7C>T (p.Arg3Ter) rs578193461
NM_015973.5(GAL):c.91A>G (p.Lys31Glu) rs1945844204
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg) rs1231287887
NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys) rs533695444
NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly) rs1765271296
NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer) rs1765271672
NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter) rs1765273374
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser) rs566874147
NM_018100.4(EFHC1):c.1171del (p.Glu391fs) rs1218368055
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr) rs1562458726
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs) rs754483740
NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val) rs1765386430
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr) rs796052418
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu) rs1765607722
NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu) rs771316611
NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly) rs776277918
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala) rs1764249661
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser) rs1765610593
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser) rs1765610823
NM_018100.4(EFHC1):c.1370G>A (p.Arg457His) rs369468811
NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala) rs2114023582
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg) rs760025678
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu) rs768684304
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile) rs973650043
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter) rs1765630267
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) rs1554261668
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly) rs766675010
NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu) rs1433410236
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter) rs779990464
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln) rs867304706
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro) rs867304706
NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr) rs1765633745
NM_018100.4(EFHC1):c.1640+3G>T rs1581847690
NM_018100.4(EFHC1):c.1641-6C>G rs1554262183
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys) rs928396576
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser) rs1581854254
NM_018100.4(EFHC1):c.1666G>A (p.Val556Met) rs772265107
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter) rs1765867667
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro) rs752701116
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=) rs1581854375
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly) rs1765870228
NM_018100.4(EFHC1):c.1863G>A (p.Met621Ile) rs2114039449
NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser) rs758464930
NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser) rs199604518
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser) rs757990962
NM_018100.4(EFHC1):c.206C>T (p.Ala69Val) rs1764251712
NM_018100.4(EFHC1):c.21T>G (p.His7Gln) rs775530837
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter) rs11552772
NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg) rs1764252445
NM_018100.4(EFHC1):c.237A>T (p.Gln79His) rs2113966975
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser) rs1562442253
NM_018100.4(EFHC1):c.277G>C (p.Asp93His) rs1764254615
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala) rs1764162488
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del) rs1764582038
NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys) rs757440981
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln) rs1554258778
NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly) rs1481620865
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser) rs1554257650
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu) rs191656603
NM_018100.4(EFHC1):c.490C>T (p.His164Tyr) rs995402027
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe) rs1764588785
NM_018100.4(EFHC1):c.558_559del (p.Cys186_Asp187delinsTer) rs1562447137
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val) rs759793242
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln) rs767704811
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter) rs1764941998
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala) rs201379297
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) rs1554259746
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn) rs765821468
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val) rs1562453181
NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg) rs747450415
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn) rs137852778
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu) rs796052413
NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn) rs1284999394
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys) rs1562453330
NM_018100.4(EFHC1):c.915A>G (p.Ala305=) rs1060503381
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
NM_020822.3(KCNT1):c.1009G>A (p.Val337Met)
NM_020822.3(KCNT1):c.1011G>A (p.Val337=) rs1831789283
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met) rs558837964
NM_020822.3(KCNT1):c.1035+1G>A rs778538243
NM_020822.3(KCNT1):c.1036-3C>T
NM_020822.3(KCNT1):c.1039G>A (p.Glu347Lys)
NM_020822.3(KCNT1):c.103G>A (p.Ala35Thr)
NM_020822.3(KCNT1):c.1048G>A (p.Val350Ile)
NM_020822.3(KCNT1):c.104C>A (p.Ala35Asp)
NM_020822.3(KCNT1):c.1054C>G (p.Leu352Val)
NM_020822.3(KCNT1):c.1059G>C (p.Trp353Cys)
NM_020822.3(KCNT1):c.1060A>G (p.Met354Val) rs2131473380
NM_020822.3(KCNT1):c.1069C>G (p.Gln357Glu)
NM_020822.3(KCNT1):c.107C>T (p.Pro36Leu)
NM_020822.3(KCNT1):c.1081G>A (p.Gly361Ser)
NM_020822.3(KCNT1):c.1093C>A (p.Arg365Ser)
NM_020822.3(KCNT1):c.1094G>A (p.Arg365His)
NM_020822.3(KCNT1):c.1094G>T (p.Arg365Leu)
NM_020822.3(KCNT1):c.1099C>T (p.Arg367Cys)
NM_020822.3(KCNT1):c.110+3dup
NM_020822.3(KCNT1):c.1100G>A (p.Arg367His)
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
NM_020822.3(KCNT1):c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG
NM_020822.3(KCNT1):c.111-15G>A
NM_020822.3(KCNT1):c.1115A>G (p.Lys372Arg) rs2131473824
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly) rs1588255201
NM_020822.3(KCNT1):c.1132_1133del (p.Val378fs) rs2131473970
NM_020822.3(KCNT1):c.113G>T (p.Arg38Leu)
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile) rs1832172453
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu) rs1832174053
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr) rs1588343193
NM_020822.3(KCNT1):c.1189C>T (p.Pro397Ser) rs2131474528
NM_020822.3(KCNT1):c.118T>C (p.Cys40Arg)
NM_020822.3(KCNT1):c.1200+12_1200+13delinsGC
NM_020822.3(KCNT1):c.1200+5G>A
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys) rs2131477259
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu) rs1064794752
NM_020822.3(KCNT1):c.1233G>C (p.Glu411Asp)
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val) rs988871689
NM_020822.3(KCNT1):c.1234A>T (p.Met412Leu)
NM_020822.3(KCNT1):c.1236G>A (p.Met412Ile) rs2131477505
NM_020822.3(KCNT1):c.1237G>A (p.Asp413Asn) rs2131477515
NM_020822.3(KCNT1):c.1245G>C (p.Gln415His)
NM_020822.3(KCNT1):c.1249C>G (p.Arg417Gly)
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser) rs1440098446
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
NM_020822.3(KCNT1):c.1275G>A (p.Trp425Ter)
NM_020822.3(KCNT1):c.1281G>T (p.Gln427His)
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp) rs373755663
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
NM_020822.3(KCNT1):c.1323C>A (p.Asp441Glu)
NM_020822.3(KCNT1):c.1330C>T (p.Arg444Ter)
NM_020822.3(KCNT1):c.1338-2A>C
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)
NM_020822.3(KCNT1):c.1347T>A (p.Asn449Lys)
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1373G>A (p.Ser458Asn)
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1394C>A (p.Thr465Lys) rs539139475
NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr) rs1832501333
NM_020822.3(KCNT1):c.1399G>A (p.Ala467Thr)
NM_020822.3(KCNT1):c.1401+6_1401+9del
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
NM_020822.3(KCNT1):c.1402-6C>G
NM_020822.3(KCNT1):c.1402-7C>G
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg) rs1245114972
NM_020822.3(KCNT1):c.1510+3G>A rs1832520059
NM_020822.3(KCNT1):c.1510+5G>A
NM_020822.3(KCNT1):c.151G>A (p.Gly51Ser)
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg) rs1832635534
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
NM_020822.3(KCNT1):c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr)
NM_020822.3(KCNT1):c.1571C>T (p.Pro524Leu)
NM_020822.3(KCNT1):c.1585C>G (p.Leu529Val)
NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
NM_020822.3(KCNT1):c.1619+5G>A
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1620-14_1620-4dup
NM_020822.3(KCNT1):c.1620-3C>T
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys) rs753040489
NM_020822.3(KCNT1):c.162G>T (p.Met54Ile) rs2131329345
NM_020822.3(KCNT1):c.1636C>G (p.Pro546Ala) rs894604084
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly) rs1564370162
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys) rs749316999
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His) rs567764094
NM_020822.3(KCNT1):c.1654A>G (p.Met552Val) rs2131507644
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) rs1564370223
NM_020822.3(KCNT1):c.1675A>C (p.Asn559His)
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys) rs765969410
NM_020822.3(KCNT1):c.1684T>C (p.Tyr562His)
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys) rs1832668143
NM_020822.3(KCNT1):c.1693C>T (p.Arg565Cys)
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val) rs1832669452
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr) rs1832669667
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg) rs773874266
NM_020822.3(KCNT1):c.1703A>G (p.Asp568Gly)
NM_020822.3(KCNT1):c.1719C>T (p.Arg573=)
NM_020822.3(KCNT1):c.1742C>T (p.Thr581Ile)
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys) rs1832673206
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val) rs1554774904
NM_020822.3(KCNT1):c.1758C>A (p.His586Gln) rs142760483
NM_020822.3(KCNT1):c.1760C>T (p.Ala587Val) rs2131508404
NM_020822.3(KCNT1):c.1762C>T (p.His588Tyr)
NM_020822.3(KCNT1):c.1769+6G>A rs927454585
NM_020822.3(KCNT1):c.1770-3C>T
NM_020822.3(KCNT1):c.1770-7_1785dup
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del) rs752708934
NM_020822.3(KCNT1):c.1809C>A (p.Asn603Lys)
NM_020822.3(KCNT1):c.1811A>C (p.Lys604Thr)
NM_020822.3(KCNT1):c.1815C>A (p.Ser605Arg) rs113201678
NM_020822.3(KCNT1):c.1828C>A (p.Pro610Thr)
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
NM_020822.3(KCNT1):c.1833del (p.Arg613fs) rs1832711486
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val) rs1832713510
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn) rs151006970
NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile) rs151006970
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His) rs1832714833
NM_020822.3(KCNT1):c.1873A>G (p.Ile625Val)
NM_020822.3(KCNT1):c.1874T>A (p.Ile625Asn)
NM_020822.3(KCNT1):c.188C>T (p.Pro63Leu)
NM_020822.3(KCNT1):c.1891del (p.Glu631fs) rs1171823087
NM_020822.3(KCNT1):c.1892_1900del (p.Glu631_Ser633del) rs2131511280
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu) rs1832717620
NM_020822.3(KCNT1):c.1940C>A (p.Ala647Asp) rs550751778
NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp) rs747671066
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg) rs1832720528
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu) rs536588045
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
NM_020822.3(KCNT1):c.195_254+851del rs1835645943
NM_020822.3(KCNT1):c.1966G>A (p.Gly656Ser) rs1832721615
NM_020822.3(KCNT1):c.196C>G (p.Pro66Ala)
NM_020822.3(KCNT1):c.1970C>G (p.Pro657Arg)
NM_020822.3(KCNT1):c.1975del (p.Arg659fs) rs1832722657
NM_020822.3(KCNT1):c.1979T>C (p.Leu660Pro)
NM_020822.3(KCNT1):c.197C>T (p.Pro66Leu)
NM_020822.3(KCNT1):c.1982C>T (p.Pro661Leu) rs2131511927
NM_020822.3(KCNT1):c.1984G>A (p.Val662Met) rs757867931
NM_020822.3(KCNT1):c.1984G>C (p.Val662Leu)
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu) rs757867931
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn) rs1832724038
NM_020822.3(KCNT1):c.1999G>A (p.Ala667Thr)
NM_020822.3(KCNT1):c.1999G>T (p.Ala667Ser)
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.3(KCNT1):c.2008+15del rs2131512215
NM_020822.3(KCNT1):c.2008+16C>T
NM_020822.3(KCNT1):c.2008+6C>A
NM_020822.3(KCNT1):c.2009-2A>G rs1318491844
NM_020822.3(KCNT1):c.2009-3C>T rs2131520063
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala) rs1364315508
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2064_2069dup (p.Gly692_Ser693insGlyGly)
NM_020822.3(KCNT1):c.2071G>T (p.Gly691Trp)
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
NM_020822.3(KCNT1):c.2084T>C (p.Leu695Pro)
NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala) rs1832847354
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.3(KCNT1):c.2099_2103dup (p.Gly702fs)
NM_020822.3(KCNT1):c.20C>T (p.Ala7Val) rs1044336128
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser) rs1588367542
NM_020822.3(KCNT1):c.2108C>T (p.Ser703Leu)
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln) rs1407599692
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr) rs892635002
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr) rs1277141686
NM_020822.3(KCNT1):c.2132C>T (p.Ala711Val) rs1312096992
NM_020822.3(KCNT1):c.2137G>T (p.Val713Phe)
NM_020822.3(KCNT1):c.2152G>T (p.Asp718Tyr)
NM_020822.3(KCNT1):c.2168_2175dup (p.Asp726fs)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn) rs752598622
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu) rs774281111
NM_020822.3(KCNT1):c.2198A>G (p.Glu733Gly) rs2131521801
NM_020822.3(KCNT1):c.2198A>T (p.Glu733Val)
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del) rs1832857720
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del) rs781600347
NM_020822.3(KCNT1):c.2212C>T (p.Pro738Ser)
NM_020822.3(KCNT1):c.2222A>C (p.Asp741Ala) rs756359375
NM_020822.3(KCNT1):c.2239G>A (p.Val747Ile)
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
NM_020822.3(KCNT1):c.2243+6T>C
NM_020822.3(KCNT1):c.2244-1G>A
NM_020822.3(KCNT1):c.2248G>A (p.Val750Met) rs2131534801
NM_020822.3(KCNT1):c.2268C>A (p.Asn756Lys)
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu) rs1833087099
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val) rs1833240649
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg) rs1233102018
NM_020822.3(KCNT1):c.238T>C (p.Phe80Leu) rs1454449324
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.2411T>C (p.Ile804Thr) rs2131543567
NM_020822.3(KCNT1):c.241_246del (p.Gln81_Asn82del)
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met) rs753288865
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) rs1564380461
NM_020822.3(KCNT1):c.2446A>G (p.Asn816Asp) rs2131543767
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu) rs1833245627
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln) rs1833247008
NM_020822.3(KCNT1):c.2479T>A (p.Ser827Thr)
NM_020822.3(KCNT1):c.2480C>A (p.Ser827Tyr)
NM_020822.3(KCNT1):c.248A>G (p.Asp83Gly)
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met) rs753584318
NM_020822.3(KCNT1):c.250G>A (p.Asp84Asn)
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del) rs1833249937
NM_020822.3(KCNT1):c.251A>G (p.Asp84Gly)
NM_020822.3(KCNT1):c.2522+3G>A rs1588381370
NM_020822.3(KCNT1):c.2522+3G>T
NM_020822.3(KCNT1):c.2525C>T (p.Pro842Leu)
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.254+3A>G
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe) rs1474100198
NM_020822.3(KCNT1):c.2561C>T (p.Pro854Leu)
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile) rs1172819191
NM_020822.3(KCNT1):c.2575A>G (p.Met859Val)
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
NM_020822.3(KCNT1):c.2599G>A (p.Asp867Asn) rs1424894748
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly) rs757223440
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
NM_020822.3(KCNT1):c.2620A>G (p.Ile874Val)
NM_020822.3(KCNT1):c.2621T>C (p.Ile874Thr)
NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del) rs2131549532
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu) rs974652934
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
NM_020822.3(KCNT1):c.2690C>T (p.Ala897Val)
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr) rs778647834
NM_020822.3(KCNT1):c.2695G>T (p.Ala899Ser)
NM_020822.3(KCNT1):c.26C>A (p.Thr9Asn)
NM_020822.3(KCNT1):c.26C>T (p.Thr9Ile) rs771423997
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
NM_020822.3(KCNT1):c.2730-18G>C
NM_020822.3(KCNT1):c.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val) rs2131552837
NM_020822.3(KCNT1):c.2767C>T (p.His923Tyr)
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu) rs1486195544
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg) rs1414528567
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn) rs1833441002
NM_020822.3(KCNT1):c.2819T>C (p.Leu940Pro)
NM_020822.3(KCNT1):c.2824C>G (p.Leu942Val) rs1833442352
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe) rs1833442719
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
NM_020822.3(KCNT1):c.2841+5G>A
NM_020822.3(KCNT1):c.2843G>C (p.Arg948Thr) rs755704046
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr) rs1318262895
NM_020822.3(KCNT1):c.2887C>G (p.Pro963Ala) rs2131571194
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu) rs997774104
NM_020822.3(KCNT1):c.2893G>A (p.Ala965Thr)
NM_020822.3(KCNT1):c.28C>G (p.Pro10Ala)
NM_020822.3(KCNT1):c.2903G>T (p.Arg968Leu) rs1325608473
NM_020822.3(KCNT1):c.2910CAGCAT[3] (p.Ser973_Met974insIleSer)
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr) rs1279003717
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
NM_020822.3(KCNT1):c.2944-21_2944-6del
NM_020822.3(KCNT1):c.2944-3C>T rs1554779944
NM_020822.3(KCNT1):c.2950G>C (p.Val984Leu)
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn) rs1833883179
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala) rs1833884066
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln) rs1833885872
NM_020822.3(KCNT1):c.3011C>G (p.Ser1004Trp)
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser) rs1833891089
NM_020822.3(KCNT1):c.3023G>A (p.Cys1008Tyr)
NM_020822.3(KCNT1):c.3028-2A>T rs2131575343
NM_020822.3(KCNT1):c.3028-5T>G rs755073132
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro) rs1450164108
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) rs1588401995
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe) rs750371003
NM_020822.3(KCNT1):c.3112A>G (p.Ile1038Val)
NM_020822.3(KCNT1):c.3119T>C (p.Ile1040Thr)
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp) rs772472766
NM_020822.3(KCNT1):c.3128C>G (p.Thr1043Arg)
NM_020822.3(KCNT1):c.3128C>T (p.Thr1043Ile)
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp) rs771326200
NM_020822.3(KCNT1):c.3134G>A (p.Ser1045Asn)
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile) rs760000324
NM_020822.3(KCNT1):c.3145T>G (p.Ser1049Ala)
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del) rs758292147
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter) rs375749415
NM_020822.3(KCNT1):c.3156+3T>C rs2131575984
NM_020822.3(KCNT1):c.3156+5T>C rs2131575991
NM_020822.3(KCNT1):c.3156+6G>C rs1474671973
NM_020822.3(KCNT1):c.3157C>T (p.Pro1053Ser) rs1833952592
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr) rs1564392375
NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val) rs757774262
NM_020822.3(KCNT1):c.3176A>G (p.Gln1059Arg)
NM_020822.3(KCNT1):c.3177+6C>T
NM_020822.3(KCNT1):c.3177_3177+22dup rs1833953810
NM_020822.3(KCNT1):c.3178-12_3180dup
NM_020822.3(KCNT1):c.3178-1G>A
NM_020822.3(KCNT1):c.3178-5_3178-1dup rs772240955
NM_020822.3(KCNT1):c.3178-7T>A
NM_020822.3(KCNT1):c.3178-7_3180dup
NM_020822.3(KCNT1):c.3178T>C (p.Ser1060Pro)
NM_020822.3(KCNT1):c.3179C>T (p.Ser1060Phe) rs758653391
NM_020822.3(KCNT1):c.3184_3210dup (p.Glu1070_Asp1071insIleSerValAsnValGluAspCysGlu)
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr) rs1588407407
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu) rs1161728281
NM_020822.3(KCNT1):c.3202G>A (p.Asp1068Asn) rs1834036491
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser) rs781225639
NM_020822.3(KCNT1):c.3206G>A (p.Cys1069Tyr)
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro) rs747837141
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser) rs1834038347
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.3(KCNT1):c.324C>A (p.Asn108Lys)
NM_020822.3(KCNT1):c.3281C>G (p.Thr1094Arg)
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
NM_020822.3(KCNT1):c.3299C>T (p.Ala1100Val)
NM_020822.3(KCNT1):c.3306C>A (p.His1102Gln)
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr) rs1347095932
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp) rs542409033
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) rs1193627908
NM_020822.3(KCNT1):c.334+8G>A
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly) rs370085077
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
NM_020822.3(KCNT1):c.335-5C>A rs745658927
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp) rs1316682933
NM_020822.3(KCNT1):c.3374G>C (p.Gly1125Ala)
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr) rs1834052820
NM_020822.3(KCNT1):c.3385G>T (p.Ala1129Ser)
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser) rs138421850
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln) rs1588309597
NM_020822.3(KCNT1):c.3391G>A (p.Glu1131Lys) rs2131582676
NM_020822.3(KCNT1):c.3396G>T (p.Trp1132Cys)
NM_020822.3(KCNT1):c.3397A>T (p.Ile1133Phe) rs1408375707
NM_020822.3(KCNT1):c.3409C>A (p.Arg1137Ser)
NM_020822.3(KCNT1):c.3412C>A (p.Leu1138Ile)
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met) rs1237797436
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln) rs774987263
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser) rs760923308
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
NM_020822.3(KCNT1):c.3430T>C (p.Ser1144Pro) rs2131582898
NM_020822.3(KCNT1):c.3433G>A (p.Glu1145Lys)
NM_020822.3(KCNT1):c.3441G>C (p.Gln1147His)
NM_020822.3(KCNT1):c.3451G>C (p.Glu1151Gln)
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val) rs1834060931
NM_020822.3(KCNT1):c.3464A>G (p.Asn1155Ser)
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala) rs549276113
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile) rs748679465
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser) rs1445337149
NM_020822.3(KCNT1):c.3514G>A (p.Asp1172Asn)
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup) rs1290067674
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys) rs139454881
NM_020822.3(KCNT1):c.3526A>G (p.Thr1176Ala)
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val) rs1474508355
NM_020822.3(KCNT1):c.3529C>T (p.Leu1177Phe)
NM_020822.3(KCNT1):c.3559G>A (p.Asp1187Asn)
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His) rs142875411
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu) rs773695396
NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser) rs1445788992
NM_020822.3(KCNT1):c.3579T>G (p.Ser1193Arg)
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys) rs1831125430
NM_020822.3(KCNT1):c.3581A>G (p.Asp1194Gly) rs2131604934
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
NM_020822.3(KCNT1):c.35dup (p.Val13fs) rs1835063072
NM_020822.3(KCNT1):c.3601T>A (p.Ser1201Thr)
NM_020822.3(KCNT1):c.3601T>C (p.Ser1201Pro)
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=) rs769180686
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu) rs140628824
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.3(KCNT1):c.360C>G (p.Phe120Leu)
NM_020822.3(KCNT1):c.3614C>G (p.Ala1205Gly)
NM_020822.3(KCNT1):c.3630C>A (p.Ser1210Arg)
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys) rs1554782444
NM_020822.3(KCNT1):c.3634C>T (p.Gln1212Ter)
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg) rs1834583130
NM_020822.3(KCNT1):c.3649A>G (p.Ser1217Gly) rs2131606216
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
NM_020822.3(KCNT1):c.3661A>G (p.Lys1221Glu)
NM_020822.3(KCNT1):c.3662A>G (p.Lys1221Arg) rs1834585051
NM_020822.3(KCNT1):c.3666GTC[1] (p.Ser1224del)
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
NM_020822.3(KCNT1):c.3679_3690del (p.Pro1227_Arg1230del)
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
NM_020822.3(KCNT1):c.3696G>C (p.Glu1232Asp)
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs) rs1834589533
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val) rs1402206752
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala) rs764111643
NM_020822.3(KCNT1):c.394G>A (p.Val132Met)
NM_020822.3(KCNT1):c.397C>T (p.Arg133Cys)
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe) rs766663683
NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
NM_020822.3(KCNT1):c.419C>T (p.Ala140Val) rs2131411420
NM_020822.3(KCNT1):c.426C>T (p.Gly142=)
NM_020822.3(KCNT1):c.427A>G (p.Ile143Val)
NM_020822.3(KCNT1):c.429C>A (p.Ile143=) rs767429133
NM_020822.3(KCNT1):c.433T>C (p.Cys145Arg)
NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr) rs1831132002
NM_020822.3(KCNT1):c.44G>A (p.Arg15Gln) rs373446490
NM_020822.3(KCNT1):c.451C>G (p.Gln151Glu)
NM_020822.3(KCNT1):c.457T>C (p.Tyr153His) rs757995472
NM_020822.3(KCNT1):c.464T>C (p.Phe155Ser)
NM_020822.3(KCNT1):c.46G>A (p.Glu16Lys)
NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln) rs1835063926
NM_020822.3(KCNT1):c.476C>T (p.Ser159Phe) rs2131422984
NM_020822.3(KCNT1):c.488A>G (p.Asn163Ser)
NM_020822.3(KCNT1):c.492-3C>A rs1831398385
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr) rs149908455
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser) rs748898708
NM_020822.3(KCNT1):c.513_516del (p.Arg172_Lys173insTer) rs1831399744
NM_020822.3(KCNT1):c.518A>G (p.Lys173Arg) rs1028292080
NM_020822.3(KCNT1):c.524C>T (p.Thr175Ile)
NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
NM_020822.3(KCNT1):c.553A>G (p.Ile185Val) rs2131434707
NM_020822.3(KCNT1):c.555A>G (p.Ile185Met) rs1588321846
NM_020822.3(KCNT1):c.556A>G (p.Ile186Val) rs1831515095
NM_020822.3(KCNT1):c.558A>G (p.Ile186Met)
NM_020822.3(KCNT1):c.55G>C (p.Gly19Arg)
NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)
NM_020822.3(KCNT1):c.572C>T (p.Thr191Met) rs1429039180
NM_020822.3(KCNT1):c.589C>T (p.Leu197Phe)
NM_020822.3(KCNT1):c.58G>C (p.Gly20Arg) rs2131304181
NM_020822.3(KCNT1):c.593G>C (p.Ser198Thr)
NM_020822.3(KCNT1):c.600+3G>A
NM_020822.3(KCNT1):c.60_75del (p.Gly21fs) rs2131304179
NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
NM_020822.3(KCNT1):c.616C>T (p.Gln206Ter) rs1192150242
NM_020822.3(KCNT1):c.616_618del (p.Gln206del)
NM_020822.3(KCNT1):c.619A>G (p.Ile207Val)
NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.3(KCNT1):c.62del (p.Gly21fs)
NM_020822.3(KCNT1):c.648G>A (p.Met216Ile)
NM_020822.3(KCNT1):c.651C>G (p.Ile217Met) rs1217512521
NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
NM_020822.3(KCNT1):c.675+17_676-22del
NM_020822.3(KCNT1):c.67A>C (p.Thr23Pro)
NM_020822.3(KCNT1):c.686C>T (p.Pro229Leu)
NM_020822.3(KCNT1):c.694C>T (p.Arg232Trp)
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
NM_020822.3(KCNT1):c.701T>A (p.Leu234Gln) rs201583448
NM_020822.3(KCNT1):c.704del (p.Phe235fs) rs1187172120
NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
NM_020822.3(KCNT1):c.752del (p.Asn251fs)
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.763G>A (p.Asp255Asn)
NM_020822.3(KCNT1):c.763del (p.Asp255fs) rs755630818
NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
NM_020822.3(KCNT1):c.790C>A (p.Gln264Lys)
NM_020822.3(KCNT1):c.790C>T (p.Gln264Ter)
NM_020822.3(KCNT1):c.793_796del (p.Ser265fs) rs764041770
NM_020822.3(KCNT1):c.797C>T (p.Ala266Val) rs1341175923
NM_020822.3(KCNT1):c.7C>T (p.Leu3Phe)
NM_020822.3(KCNT1):c.814C>A (p.Leu272Ile) rs757884130
NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
NM_020822.3(KCNT1):c.817A>G (p.Ile273Val)
NM_020822.3(KCNT1):c.819C>G (p.Ile273Met)
NM_020822.3(KCNT1):c.81C>A (p.Phe27Leu)
NM_020822.3(KCNT1):c.825C>G (p.Phe275Leu)
NM_020822.3(KCNT1):c.82_84del (p.Glu28del)
NM_020822.3(KCNT1):c.839G>A (p.Cys280Tyr) rs1160972448
NM_020822.3(KCNT1):c.844G>A (p.Val282Ile)
NM_020822.3(KCNT1):c.855-10G>A rs1057521940
NM_020822.3(KCNT1):c.855-9G>A
NM_020822.3(KCNT1):c.855G>C (p.Gly285=)
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.3(KCNT1):c.881G>A (p.Arg294Gln)
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser) rs1831777941
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro) rs1564356207
NM_020822.3(KCNT1):c.899C>T (p.Ser300Phe)
NM_020822.3(KCNT1):c.908C>T (p.Thr303Ile)
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr) rs1060503697
NM_020822.3(KCNT1):c.914T>C (p.Phe305Ser)
NM_020822.3(KCNT1):c.943G>A (p.Val315Met)
NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser) rs1831783786
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met) rs1588330851
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg) rs978227077
NM_020822.3(KCNT1):c.971T>A (p.Ile324Asn) rs2131451388
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) rs1831785244
NM_020822.3(KCNT1):c.973T>G (p.Trp325Gly)
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu) rs777106178
NM_020822.3(KCNT1):c.997A>T (p.Ile333Phe)
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met) rs764327750
NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln) rs761766419
NM_021267.5(CERS1):c.1011-2A>G rs771873576
NM_021267.5(CERS1):c.102_103insTCG (p.Ala34_Arg35insSer) rs1210737907
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys)
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)
NM_021267.5(CERS1):c.133G>C (p.Ala45Pro) rs2146084497
NM_021267.5(CERS1):c.148G>C (p.Ala50Pro)
NM_021267.5(CERS1):c.148G>T (p.Ala50Ser)
NM_021267.5(CERS1):c.158C>G (p.Ala53Gly) rs2056615240
NM_021267.5(CERS1):c.173C>T (p.Pro58Leu) rs2056614649
NM_021267.5(CERS1):c.177G>C (p.Glu59Asp) rs2056614444
NM_021267.5(CERS1):c.178C>G (p.Leu60Val) rs760185006
NM_021267.5(CERS1):c.17C>G (p.Pro6Arg)
NM_021267.5(CERS1):c.181C>A (p.Leu61Met) rs1330389032
NM_021267.5(CERS1):c.182T>C (p.Leu61Pro) rs2146084156
NM_021267.5(CERS1):c.18_29del (p.3AAGP[1]) rs1026938291
NM_021267.5(CERS1):c.18_29dup (p.3AAGP[3]) rs1026938291
NM_021267.5(CERS1):c.211A>G (p.Thr71Ala) rs1427120932
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Gly69_Leu73dup) rs2056612675
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr)
NM_021267.5(CERS1):c.307G>T (p.Ala103Ser) rs755528875
NM_021267.5(CERS1):c.30_38del (p.Thr11_Pro13del) rs2056619121
NM_021267.5(CERS1):c.312del (p.Ala103_Trp104insTer) rs2146074561
NM_021267.5(CERS1):c.319C>G (p.Leu107Val) rs1039358825
NM_021267.5(CERS1):c.350C>T (p.Ala117Val) rs2146074403
NM_021267.5(CERS1):c.37C>A (p.Pro13Thr)
NM_021267.5(CERS1):c.398C>T (p.Ser133Phe) rs1555707050
NM_021267.5(CERS1):c.440A>G (p.Asp147Gly) rs2056291546
NM_021267.5(CERS1):c.46A>G (p.Met16Val) rs2146085001
NM_021267.5(CERS1):c.470G>A (p.Ser157Asn) rs2146033428
NM_021267.5(CERS1):c.506T>C (p.Met169Thr)
NM_021267.5(CERS1):c.50C>T (p.Pro17Leu) rs2056618624
NM_021267.5(CERS1):c.511A>G (p.Thr171Ala) rs1295251261
NM_021267.5(CERS1):c.518G>A (p.Arg173His)
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp) rs555889038
NM_021267.5(CERS1):c.550G>A (p.Val184Met) rs374308521
NM_021267.5(CERS1):c.550G>T (p.Val184Leu) rs374308521
NM_021267.5(CERS1):c.557C>T (p.Thr186Ile) rs1601172583
NM_021267.5(CERS1):c.586T>A (p.Phe196Ile)
NM_021267.5(CERS1):c.590G>A (p.Arg197Gln) rs758556990
NM_021267.5(CERS1):c.5CGG[4] (p.Ala4dup) rs996708246
NM_021267.5(CERS1):c.608T>C (p.Ile203Thr) rs1314252199
NM_021267.5(CERS1):c.610C>G (p.Leu204Val) rs866186539
NM_021267.5(CERS1):c.634A>G (p.Ser212Gly)
NM_021267.5(CERS1):c.637G>A (p.Asp213Asn) rs2146018809
NM_021267.5(CERS1):c.667A>G (p.Ile223Val)
NM_021267.5(CERS1):c.683G>A (p.Arg228His) rs777656031
NM_021267.5(CERS1):c.688G>A (p.Gly230Ser) rs935097145
NM_021267.5(CERS1):c.700C>G (p.Arg234Gly) rs767727206
NM_021267.5(CERS1):c.701G>A (p.Arg234Gln) rs369297915
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu) rs369297915
NM_021267.5(CERS1):c.709G>A (p.Ala237Thr) rs368637790
NM_021267.5(CERS1):c.709G>T (p.Ala237Ser) rs368637790
NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu) rs2146018425
NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro) rs2146084865
NM_021267.5(CERS1):c.725T>C (p.Leu242Ser) rs1601165243
NM_021267.5(CERS1):c.738C>G (p.Ser246Arg) rs2056170861
NM_021267.5(CERS1):c.742G>A (p.Gly248Ser) rs925482243
NM_021267.5(CERS1):c.74G>A (p.Arg25His) rs2056617983
NM_021267.5(CERS1):c.753-3C>A
NM_021267.5(CERS1):c.805C>T (p.His269Tyr)
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys)
NM_021267.5(CERS1):c.835C>A (p.Pro279Thr) rs368072339
NM_021267.5(CERS1):c.835C>G (p.Pro279Ala) rs368072339
NM_021267.5(CERS1):c.851T>C (p.Phe284Ser) rs1568297877
NM_021267.5(CERS1):c.87C>G (p.Ser29Arg) rs1275370347
NM_021267.5(CERS1):c.903C>A (p.Tyr301Ter) rs1601162007
NM_021267.5(CERS1):c.940G>T (p.Val314Leu)
NM_021267.5(CERS1):c.945C>G (p.His315Gln) rs767643146
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn) rs369933386
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp) rs770285954
NM_032737.4(LMNB2):c.1016A>T (p.Glu339Val)
NM_032737.4(LMNB2):c.101C>T (p.Thr34Met) rs1599345010
NM_032737.4(LMNB2):c.1026G>A (p.Met342Ile) rs2145448355
NM_032737.4(LMNB2):c.1037G>A (p.Arg346Gln)
NM_032737.4(LMNB2):c.1041C>A (p.Asp347Glu) rs1366067577
NM_032737.4(LMNB2):c.1047C>G (p.Phe349Leu) rs1044762718
NM_032737.4(LMNB2):c.1055T>A (p.Met352Lys)
NM_032737.4(LMNB2):c.1090C>T (p.Arg364Trp) rs1482825530
NM_032737.4(LMNB2):c.1126G>C (p.Glu376Gln) rs370443310
NM_032737.4(LMNB2):c.1141A>C (p.Lys381Gln)
NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter) rs1555683015
NM_032737.4(LMNB2):c.1202+4C>G rs756666958
NM_032737.4(LMNB2):c.1203-14T>A rs1362758350
NM_032737.4(LMNB2):c.1214C>T (p.Ser405Phe)
NM_032737.4(LMNB2):c.1216C>A (p.Pro406Thr) rs1232802483
NM_032737.4(LMNB2):c.1220G>C (p.Ser407Thr) rs755373660
NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg) rs766553520
NM_032737.4(LMNB2):c.1229C>T (p.Ser410Leu)
NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu) rs201335788
NM_032737.4(LMNB2):c.1247G>A (p.Arg416Gln) rs200293412
NM_032737.4(LMNB2):c.1250C>A (p.Ala417Asp) rs2145447793
NM_032737.4(LMNB2):c.1252A>C (p.Thr418Pro)
NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp) rs368949581
NM_032737.4(LMNB2):c.1279G>T (p.Ala427Ser) rs57521499
NM_032737.4(LMNB2):c.1285G>C (p.Gly429Arg)
NM_032737.4(LMNB2):c.1313G>A (p.Arg438Gln) rs758913468
NM_032737.4(LMNB2):c.1326G>T (p.Glu442Asp)
NM_032737.4(LMNB2):c.1336G>A (p.Gly446Ser)
NM_032737.4(LMNB2):c.1337G>A (p.Gly446Asp)
NM_032737.4(LMNB2):c.1350C>A (p.Ser450Arg) rs765785713
NM_032737.4(LMNB2):c.1361C>G (p.Thr454Arg)
NM_032737.4(LMNB2):c.1369G>A (p.Gly457Ser)
NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr) rs751465568
NM_032737.4(LMNB2):c.1408G>A (p.Ala470Thr) rs1971782310
NM_032737.4(LMNB2):c.1409C>T (p.Ala470Val)
NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys)
NM_032737.4(LMNB2):c.1444G>A (p.Glu482Lys)
NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn) rs1599331228
NM_032737.4(LMNB2):c.1496G>T (p.Gly499Val)
NM_032737.4(LMNB2):c.14G>A (p.Ser5Asn)
NM_032737.4(LMNB2):c.14G>T (p.Ser5Ile) rs933753487
NM_032737.4(LMNB2):c.1528G>T (p.Gly510Trp) rs779010033
NM_032737.4(LMNB2):c.1540G>A (p.Ala514Thr)
NM_032737.4(LMNB2):c.1564A>G (p.Ile522Val)
NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe) rs1555684976
NM_032737.4(LMNB2):c.1585G>A (p.Val529Ile)
NM_032737.4(LMNB2):c.1589C>T (p.Thr530Met)
NM_032737.4(LMNB2):c.1603G>A (p.Gly535Ser)
NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr)
NM_032737.4(LMNB2):c.1618del (p.His540fs) rs1971745538
NM_032737.4(LMNB2):c.1623C>A (p.Ser541Arg)
NM_032737.4(LMNB2):c.1624C>A (p.Pro542Thr) rs759878071
NM_032737.4(LMNB2):c.1624C>T (p.Pro542Ser)
NM_032737.4(LMNB2):c.1658G>T (p.Ser553Ile)
NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu)
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr) rs760189690
NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser) rs900966872
NM_032737.4(LMNB2):c.1706G>A (p.Gly569Asp) rs745499299
NM_032737.4(LMNB2):c.1720A>G (p.Met574Val) rs1209932416
NM_032737.4(LMNB2):c.1729G>A (p.Val577Met)
NM_032737.4(LMNB2):c.1744G>A (p.Val582Met)
NM_032737.4(LMNB2):c.1755G>C (p.Glu585Asp)
NM_032737.4(LMNB2):c.1776GGA[2] (p.Glu595del) rs777407254
NM_032737.4(LMNB2):c.177C>A (p.His59Gln) rs1437745175
NM_032737.4(LMNB2):c.1787C>G (p.Ala596Gly)
NM_032737.4(LMNB2):c.1822G>A (p.Gly608Arg) rs1971731802
NM_032737.4(LMNB2):c.1835C>T (p.Thr612Ile)
NM_032737.4(LMNB2):c.1847G>T (p.Gly616Val)
NM_032737.4(LMNB2):c.260G>A (p.Arg87His)
NM_032737.4(LMNB2):c.264+5G>T
NM_032737.4(LMNB2):c.272G>A (p.Gly91Asp)
NM_032737.4(LMNB2):c.281C>G (p.Ala94Gly)
NM_032737.4(LMNB2):c.284T>G (p.Leu95Arg) rs2145462859
NM_032737.4(LMNB2):c.293C>T (p.Ser98Leu)
NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu) rs984068789
NM_032737.4(LMNB2):c.302C>T (p.Ala101Val) rs2145462818
NM_032737.4(LMNB2):c.310C>G (p.Arg104Gly)
NM_032737.4(LMNB2):c.310C>T (p.Arg104Trp) rs150333146
NM_032737.4(LMNB2):c.311G>A (p.Arg104Gln) rs1004998035
NM_032737.4(LMNB2):c.311G>T (p.Arg104Leu) rs1004998035
NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser) rs1599338116
NM_032737.4(LMNB2):c.35A>C (p.Gln12Pro) rs1972098113
NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys) rs1296402064
NM_032737.4(LMNB2):c.391G>A (p.Val131Ile)
NM_032737.4(LMNB2):c.395_396delinsTA (p.Asn132Ile)
NM_032737.4(LMNB2):c.402-18_402-3del rs1971855692
NM_032737.4(LMNB2):c.402C>A (p.Ser134Arg) rs148213507
NM_032737.4(LMNB2):c.404C>T (p.Ala135Val)
NM_032737.4(LMNB2):c.40A>G (p.Arg14Gly)
NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser) rs1279810346
NM_032737.4(LMNB2):c.437A>G (p.Gln146Arg)
NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser) rs2145479547
NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys) rs1568204139
NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg) rs923000484
NM_032737.4(LMNB2):c.477C>G (p.Ser159Arg)
NM_032737.4(LMNB2):c.481G>A (p.Val161Met)
NM_032737.4(LMNB2):c.481G>C (p.Val161Leu) rs752878483
NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser) rs751675653
NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser) rs1374097743
NM_032737.4(LMNB2):c.503G>A (p.Ser168Asn)
NM_032737.4(LMNB2):c.512G>T (p.Arg171Leu) rs776205964
NM_032737.4(LMNB2):c.517C>A (p.Leu173Met) rs771818418
NM_032737.4(LMNB2):c.53C>T (p.Ala18Val)
NM_032737.4(LMNB2):c.559-2A>G rs1971851890
NM_032737.4(LMNB2):c.568G>A (p.Gly190Ser)
NM_032737.4(LMNB2):c.568G>C (p.Gly190Arg)
NM_032737.4(LMNB2):c.572A>G (p.His191Arg) rs1971851658
NM_032737.4(LMNB2):c.592C>A (p.Leu198Met) rs1971851307
NM_032737.4(LMNB2):c.605C>T (p.Thr202Met) rs763985079
NM_032737.4(LMNB2):c.617T>C (p.Val206Ala) rs1971850872
NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys)
NM_032737.4(LMNB2):c.658G>C (p.Asp220His) rs1568203965
NM_032737.4(LMNB2):c.684+1G>A rs2145454060
NM_032737.4(LMNB2):c.684+3G>A rs2145454055
NM_032737.4(LMNB2):c.687G>T (p.Glu229Asp)
NM_032737.4(LMNB2):c.694G>A (p.Glu232Lys) rs1971807508
NM_032737.4(LMNB2):c.701G>A (p.Arg234Gln)
NM_032737.4(LMNB2):c.705_719del (p.Arg236_Arg240del) rs2145449457
NM_032737.4(LMNB2):c.707G>A (p.Arg236Gln)
NM_032737.4(LMNB2):c.713A>T (p.Glu238Val) rs2145449474
NM_032737.4(LMNB2):c.716G>A (p.Arg239Gln)
NM_032737.4(LMNB2):c.719G>A (p.Arg240His)
NM_032737.4(LMNB2):c.733G>A (p.Asp245Asn) rs2145449419
NM_032737.4(LMNB2):c.739A>C (p.Ser247Arg)
NM_032737.4(LMNB2):c.73C>G (p.Leu25Val)
NM_032737.4(LMNB2):c.757_759del (p.Asp253del) rs780771322
NM_032737.4(LMNB2):c.772C>T (p.Gln258Ter) rs2145449340
NM_032737.4(LMNB2):c.814C>T (p.Arg272Trp)
NM_032737.4(LMNB2):c.836A>T (p.Glu279Val)
NM_032737.4(LMNB2):c.843C>G (p.Thr281=) rs1043055908
NM_032737.4(LMNB2):c.863G>A (p.Ser288Asn) rs1971801033
NM_032737.4(LMNB2):c.886A>C (p.Asn296His) rs1568202409
NM_032737.4(LMNB2):c.8C>G (p.Pro3Arg) rs1972098760
NM_032737.4(LMNB2):c.931C>T (p.Arg311Cys)
NM_032737.4(LMNB2):c.949C>T (p.Leu317Phe)
NM_032737.4(LMNB2):c.955T>C (p.Tyr319His) rs1971799552
NM_032737.4(LMNB2):c.991G>A (p.Ala331Thr) rs1437865965
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val) rs139176541
NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)
NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)
NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser) rs1938033219
NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His) rs1938031733
NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys)
NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)
NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser) rs1239638305
NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg) rs1938026797
NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile) rs2140101481
NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp) rs1938025035
NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln) rs2140101412
NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala)
NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys) rs2140101302
NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)
NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His) rs1938022245
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe) rs1261183051
NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe) rs2140101132
NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly) rs1938019653
NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser) rs1311851345
NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)
NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)
NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)
NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro) rs1306531699
NM_153026.3(PRICKLE1):c.132+3dup
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg) rs767486612
NM_153026.3(PRICKLE1):c.1330A>G (p.Ile444Val) rs146199468
NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)
NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) rs1555230922
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) rs1060502985
NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg)
NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His) rs1938007089
NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr) rs2140100316
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg) rs1937999932
NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter) rs1937999343
NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)
NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup) rs1937998007
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) rs778765052
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.3(PRICKLE1):c.162G>A (p.Glu54=) rs1593113981
NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp) rs1593113981
NM_153026.3(PRICKLE1):c.1640-14G>A rs2140088689
NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)
NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro) rs1002543932
NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs) rs2140088272
NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)
NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly) rs1593100814
NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn) rs1937785933
NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg) rs1937784313
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu) rs1937783195
NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)
NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg) rs1937780289
NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn) rs150809651
NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu) rs3747563
NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)
NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)
NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp) rs370129051
NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln) rs1937776331
NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu) rs750913400
NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile) rs2140087105
NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs) rs1937772079
NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn) rs2140119023
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His) rs748173327
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp) rs779314205
NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp)
NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)
NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)
NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val) rs1938264291
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val) rs1937760935
NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)
NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)
NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp) rs371991440
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu) rs1937756868
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val) rs925234164
NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu) rs779059953
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met) rs1273178828
NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del) rs1333451337
NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)
NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)
NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr) rs760738396
NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val) rs1180000042
NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His) rs1937748497
NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro) rs2140085364
NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg) rs777019107
NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del) rs557205452
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe) rs1937743406
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) rs1239945627
NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln) rs776819993
NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln) rs2140118839
NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)
NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val) rs2140084269
NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)
NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu) rs2140084244
NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln) rs1342604313
NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg) rs1798772229
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp) rs775472022
NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter) rs868235074
NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)
NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile) rs1938365238
NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs) rs1938233902
NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln) rs1938232548
NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val) rs1343849513
NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs) rs1938228955
NM_153026.3(PRICKLE1):c.384+3G>A rs2140116219
NM_153026.3(PRICKLE1):c.384+6C>A rs764025084
NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)
NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile) rs1593116403
NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser) rs773739764
NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr) rs1938205447
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys) rs1284958285
NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu) rs281865563
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr) rs1938203596
NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser) rs1938202392
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe) rs1938200477
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs) rs1938199369
NM_153026.3(PRICKLE1):c.499G>A (p.Asp167Asn) rs2140113781
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys) rs771717707
NM_153026.3(PRICKLE1):c.540C>T (p.Gly180=) rs1938195548
NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)
NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp) rs2140113478
NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys) rs759969939
NM_153026.3(PRICKLE1):c.588+5A>C rs1593111486
NM_153026.3(PRICKLE1):c.588+6A>C
NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr) rs542029566
NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)
NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys) rs773561952
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu) rs1457774536
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser) rs796052930
NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) rs1566087431
NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) rs1566082169
NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)
NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)
NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)
NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr) rs1938088327
NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)
NM_153026.3(PRICKLE1):c.775+3A>G
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp) rs1555230194
NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)
NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro) rs762434475
NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) rs1555230175
NM_153026.3(PRICKLE1):c.898A>C (p.Ile300Leu) rs1938042825
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs) rs754532709
NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln) rs202205425
NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs) rs1938040051
NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly) rs1046367995
NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu) rs1938037593
NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly) rs1938037090
NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del) rs778647590
NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)
NM_153033.5(KCTD7):c.113C>T (p.Ala38Val) rs373655601
NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu)
NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)
NM_153033.5(KCTD7):c.144+3A>G rs1584392905
NM_153033.5(KCTD7):c.144+4C>A rs757018925
NM_153033.5(KCTD7):c.144G>A (p.Glu48=) rs2116755708
NM_153033.5(KCTD7):c.147T>G (p.Phe49Leu) rs2116763687
NM_153033.5(KCTD7):c.148C>G (p.Pro50Ala) rs1476493354
NM_153033.5(KCTD7):c.14C>G (p.Thr5Arg) rs1346070646
NM_153033.5(KCTD7):c.152A>T (p.Glu51Val) rs2116763702
NM_153033.5(KCTD7):c.153G>T (p.Glu51Asp) rs2116763706
NM_153033.5(KCTD7):c.154G>T (p.Val52Phe) rs2116763711
NM_153033.5(KCTD7):c.158T>C (p.Val53Ala) rs2116763713
NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)
NM_153033.5(KCTD7):c.181C>G (p.His61Asp) rs368018261
NM_153033.5(KCTD7):c.188C>T (p.Thr63Ile) rs1258782993
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe) rs1786499355
NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)
NM_153033.5(KCTD7):c.238A>G (p.Met80Val) rs1554397798
NM_153033.5(KCTD7):c.278G>A (p.Gly93Asp) rs373509859
NM_153033.5(KCTD7):c.278G>C (p.Gly93Ala) rs373509859
NM_153033.5(KCTD7):c.296G>T (p.Arg99Leu) rs1275877072
NM_153033.5(KCTD7):c.308A>G (p.His103Arg) rs2116764091
NM_153033.5(KCTD7):c.335G>A (p.Arg112His) rs774026720
NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu) rs763423181
NM_153033.5(KCTD7):c.362G>A (p.Arg121His) rs199624315
NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly) rs1786632902
NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr)
NM_153033.5(KCTD7):c.419A>G (p.Gln140Arg)
NM_153033.5(KCTD7):c.428A>G (p.Asn143Ser) rs1786634540
NM_153033.5(KCTD7):c.431T>A (p.Met144Lys)
NM_153033.5(KCTD7):c.440T>C (p.Leu147Pro) rs775109352
NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys)
NM_153033.5(KCTD7):c.457C>T (p.Arg153Cys) rs761707159
NM_153033.5(KCTD7):c.45C>A (p.Asp15Glu) rs751937729
NM_153033.5(KCTD7):c.463G>A (p.Ala155Thr) rs2116774076
NM_153033.5(KCTD7):c.46G>A (p.Gly16Ser) rs1450028260
NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys) rs1450028260
NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg)
NM_153033.5(KCTD7):c.485A>T (p.Tyr162Phe) rs2116774109
NM_153033.5(KCTD7):c.493+3G>C
NM_153033.5(KCTD7):c.494A>G (p.Asp165Gly)
NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe)
NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp)
NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu)
NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly) rs568539835
NM_153033.5(KCTD7):c.536T>C (p.Val179Ala) rs1362176294
NM_153033.5(KCTD7):c.53T>A (p.Met18Lys) rs777578179
NM_153033.5(KCTD7):c.601C>A (p.Pro201Thr) rs2116775195
NM_153033.5(KCTD7):c.605A>G (p.Tyr202Cys) rs1786649598
NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr) rs1786649821
NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile)
NM_153033.5(KCTD7):c.628C>G (p.Leu210Val)
NM_153033.5(KCTD7):c.636T>A (p.Phe212Leu) rs752360120
NM_153033.5(KCTD7):c.636T>G (p.Phe212Leu) rs752360120
NM_153033.5(KCTD7):c.64G>A (p.Asp22Asn) rs1390049689
NM_153033.5(KCTD7):c.650G>A (p.Ser217Asn) rs1786651523
NM_153033.5(KCTD7):c.681A>T (p.Glu227Asp)
NM_153033.5(KCTD7):c.698G>A (p.Gly233Glu) rs2116775521
NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser) rs796052689
NM_153033.5(KCTD7):c.710C>G (p.Ala237Gly) rs1584399776
NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly) rs2116755505
NM_153033.5(KCTD7):c.758C>T (p.Ser253Leu) rs761940050
NM_153033.5(KCTD7):c.759G>A (p.Ser253=) rs146540578
NM_153033.5(KCTD7):c.769C>G (p.Leu257Val) rs1554300955
NM_153033.5(KCTD7):c.773C>A (p.Thr258Asn) rs1786653994
NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)
NM_153033.5(KCTD7):c.784C>G (p.Gln262Glu) rs886043127
NM_153033.5(KCTD7):c.790A>C (p.Ile264Leu) rs763830869
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_153033.5(KCTD7):c.796G>T (p.Val266Leu) rs1297799073
NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)
NM_153033.5(KCTD7):c.811C>G (p.Leu271Val) rs2116775776
NM_153033.5(KCTD7):c.821A>G (p.His274Arg) rs2116775801
NM_153033.5(KCTD7):c.845A>G (p.Tyr282Cys) rs1264632322
NM_153033.5(KCTD7):c.857T>A (p.Ile286Asn) rs2116775902
NM_153033.5(KCTD7):c.861_863del (p.Trp289del) rs2116775918
NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del) rs753399965
NM_178013.4(PRIMA1):c.102_103inv (p.Gly35Ser)
NM_178013.4(PRIMA1):c.116A>C (p.Lys39Thr) rs1595225943
NM_178013.4(PRIMA1):c.149A>T (p.His50Leu) rs1885313756
NM_178013.4(PRIMA1):c.151G>A (p.Val51Ile) rs757100676
NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln) rs1221627092
NM_178013.4(PRIMA1):c.170C>A (p.Pro57His)
NM_178013.4(PRIMA1):c.186_194dup (p.Pro68_Pro70dup) rs1885310371
NM_178013.4(PRIMA1):c.188C>T (p.Pro63Leu)
NM_178013.4(PRIMA1):c.223G>A (p.Ala75Thr) rs777420844
NM_178013.4(PRIMA1):c.226C>T (p.Pro76Ser)
NM_178013.4(PRIMA1):c.22C>G (p.Leu8Val) rs2141200976
NM_178013.4(PRIMA1):c.239C>G (p.Ser80Cys)
NM_178013.4(PRIMA1):c.250C>G (p.Pro84Ala) rs376511394
NM_178013.4(PRIMA1):c.26G>T (p.Arg9Leu) rs1356463267
NM_178013.4(PRIMA1):c.272C>T (p.Ser91Leu) rs1461678706
NM_178013.4(PRIMA1):c.28C>T (p.Arg10Cys) rs1236227808
NM_178013.4(PRIMA1):c.29G>T (p.Arg10Leu) rs971650267
NM_178013.4(PRIMA1):c.308C>T (p.Ser103Phe)
NM_178013.4(PRIMA1):c.313G>A (p.Val105Met) rs933720150
NM_178013.4(PRIMA1):c.316T>A (p.Phe106Ile)
NM_178013.4(PRIMA1):c.33_34inv (p.Cys12Gly)
NM_178013.4(PRIMA1):c.352A>G (p.Ile118Val) rs2076155343
NM_178013.4(PRIMA1):c.353T>C (p.Ile118Thr) rs2076155309
NM_178013.4(PRIMA1):c.359+6T>A rs371216163
NM_178013.4(PRIMA1):c.365C>T (p.Pro122Leu) rs748353542
NM_178013.4(PRIMA1):c.383A>G (p.Asn128Ser)
NM_178013.4(PRIMA1):c.398C>T (p.Ala133Val) rs548656636
NM_178013.4(PRIMA1):c.441C>A (p.Asp147Glu) rs966498472
NM_178013.4(PRIMA1):c.44C>A (p.Ser15Tyr) rs1472639661
NM_178013.4(PRIMA1):c.451G>C (p.Ala151Pro) rs200782279
NM_178013.4(PRIMA1):c.47C>T (p.Ser16Leu) rs1366936289
NM_178013.4(PRIMA1):c.82G>C (p.Gly28Arg) rs750307297
NM_178013.4(PRIMA1):c.87C>A (p.Phe29Leu) rs1474313538
NM_178013.4(PRIMA1):c.88G>A (p.Val30Met) rs1885561822
NM_178013.4(PRIMA1):c.91C>G (p.Gln31Glu) rs1449284468
NM_178013.4(PRIMA1):c.98_99delinsTA (p.Thr33Ile) rs2141193915
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr) rs781739043
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg) rs1783733675
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro) rs764691077
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn) rs1422730903
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys) rs771702699
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg) rs753959228
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln) rs1783757283
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu) rs1783757283
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His) rs796052754
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys) rs779507031
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser) rs1783756475
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys) rs1582030466
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu) rs1280991443
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn) rs2150703425
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr) rs1582030401
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu) rs1340355518
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser) rs1484414595
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr) rs568131096
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu) rs1166657109
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly) rs1255416149
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro) rs796052755
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg) rs1783752059
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly) rs2150703412
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile) rs1783751214
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val) rs1783749949
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met) rs1367848969
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln) rs2150703410
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu) rs1783749565
NM_198586.3(NHLRC1):c.423_425del (p.Val144del) rs1783748374
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro) rs1783748075
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His) rs749599233
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn) rs2150703098
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu) rs781300542
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro) rs1217974765
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys) rs796052757
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys) rs771805307
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser) rs1783743169
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His) rs754756237
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val) rs1449381352
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu) rs1783742476
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn) rs371640803
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly) rs1173727000
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr) rs747276703
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu) rs146420615
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn) rs2150702925
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp) rs1244886517
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser) rs1783740022
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr) rs2150702863
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg) rs568213488
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg) rs568213488
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg) rs2150702844
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu) rs2150702844
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile) rs1783736655
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro) rs2150702790
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys) rs757759398
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val) rs1415043929
NM_198904.4(GABRG2):c.1007A>G (p.Asp336Gly) rs1060501890
NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu)
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg) rs1765180862
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu) rs1765181104
NM_198904.4(GABRG2):c.1025G>A (p.Cys342Tyr) rs2113633149
NM_198904.4(GABRG2):c.1036G>T (p.Val346Phe)
NM_198904.4(GABRG2):c.1037T>G (p.Val346Gly)
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr) rs756959300
NM_198904.4(GABRG2):c.1046C>A (p.Ala349Asp)
NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)
NM_198904.4(GABRG2):c.1057T>C (p.Tyr353His)
NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser) rs866056788
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.107+6A>T
NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp) rs1266267390
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly) rs374512652
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg) rs1765190002
NM_198904.4(GABRG2):c.1127C>T (p.Pro376Leu)
NM_198904.4(GABRG2):c.1128+6T>C
NM_198904.4(GABRG2):c.1153-11C>A
NM_198904.4(GABRG2):c.1153-15C>G
NM_198904.4(GABRG2):c.1153-2A>G rs1554101185
NM_198904.4(GABRG2):c.1156C>G (p.Pro386Ala)
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
NM_198904.4(GABRG2):c.1197G>T (p.Met399Ile) rs1581462722
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser)
NM_198904.4(GABRG2):c.1268C>T (p.Ala423Val)
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del) rs769160013
NM_198904.4(GABRG2):c.1271G>T (p.Ser424Ile)
NM_198904.4(GABRG2):c.1277T>C (p.Phe426Ser) rs2113650980
NM_198904.4(GABRG2):c.1279T>C (p.Cys427Arg) rs1200142311
NM_198904.4(GABRG2):c.1282T>C (p.Cys428Arg)
NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)
NM_198904.4(GABRG2):c.1313G>A (p.Arg438Lys) rs796052514
NM_198904.4(GABRG2):c.1318G>A (p.Gly440Arg)
NM_198904.4(GABRG2):c.1324A>G (p.Ile442Val)
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr) rs1765504023
NM_198904.4(GABRG2):c.1333C>T (p.Arg445Cys) rs1561662358
NM_198904.4(GABRG2):c.1337T>A (p.Ile446Asn) rs2113651245
NM_198904.4(GABRG2):c.1348G>A (p.Asp450Asn)
NM_198904.4(GABRG2):c.1348G>C (p.Asp450His)
NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)
NM_198904.4(GABRG2):c.1357del (p.Ala453fs)
NM_198904.4(GABRG2):c.1358C>A (p.Ala453Asp)
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp) rs796052515
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln) rs904388241
NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu) rs1765508103
NM_198904.4(GABRG2):c.1393A>T (p.Asn465Tyr) rs1581463309
NM_198904.4(GABRG2):c.1400T>G (p.Val467Gly)
NM_198904.4(GABRG2):c.1405T>C (p.Trp469Arg) rs2113651577
NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter) rs1210628894
NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)
NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)
NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)
NM_198904.4(GABRG2):c.185C>T (p.Pro62Leu) rs771317794
NM_198904.4(GABRG2):c.189G>C (p.Glu63Asp) rs774756037
NM_198904.4(GABRG2):c.206T>C (p.Ile69Thr)
NM_198904.4(GABRG2):c.216C>A (p.Asn72Lys)
NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe)
NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)
NM_198904.4(GABRG2):c.259+5G>A
NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro) rs2113080489
NM_198904.4(GABRG2):c.260T>G (p.Val87Gly)
NM_198904.4(GABRG2):c.276T>G (p.Ile92Met)
NM_198904.4(GABRG2):c.287T>C (p.Met96Thr)
NM_198904.4(GABRG2):c.290A>T (p.Tyr97Phe) rs2113309275
NM_198904.4(GABRG2):c.293T>A (p.Val98Glu)
NM_198904.4(GABRG2):c.299G>T (p.Ser100Ile)
NM_198904.4(GABRG2):c.302T>C (p.Ile101Thr)
NM_198904.4(GABRG2):c.306_311del (p.Pro103_Val104del)
NM_198904.4(GABRG2):c.308C>T (p.Pro103Leu)
NM_198904.4(GABRG2):c.327+6T>C rs1760938978
NM_198904.4(GABRG2):c.328-3C>G
NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)
NM_198904.4(GABRG2):c.365A>G (p.Tyr122Cys) rs1554097875
NM_198904.4(GABRG2):c.374G>A (p.Arg125His)
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn) rs1194428749
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val) rs752621588
NM_198904.4(GABRG2):c.3G>T (p.Met1Ile) rs1758351092
NM_198904.4(GABRG2):c.401T>C (p.Val134Ala) rs2113325670
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063
NM_198904.4(GABRG2):c.419A>G (p.Asn140Ser) rs1554097879
NM_198904.4(GABRG2):c.421A>G (p.Met141Val)
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn) rs1761105874
NM_198904.4(GABRG2):c.445G>C (p.Asp149His) rs2113326238
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu) rs1761106635
NM_198904.4(GABRG2):c.451T>G (p.Phe151Val) rs2113326347
NM_198904.4(GABRG2):c.455T>C (p.Phe152Ser) rs1581350948
NM_198904.4(GABRG2):c.464C>T (p.Ser155Phe) rs267600531
NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)
NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala) rs1429217294
NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)
NM_198904.4(GABRG2):c.506T>C (p.Met169Thr) rs2113327195
NM_198904.4(GABRG2):c.548+4T>C
NM_198904.4(GABRG2):c.548+6C>A rs956763211
NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)
NM_198904.4(GABRG2):c.549G>A (p.Arg183=) rs1761390378
NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)
NM_198904.4(GABRG2):c.569G>T (p.Cys190Phe) rs2113352368
NM_198904.4(GABRG2):c.583C>A (p.His195Asn) rs981863613
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr) rs770506471
NM_198904.4(GABRG2):c.608C>G (p.Ser203Cys) rs1334273668
NM_198904.4(GABRG2):c.631+4A>C rs1761398393
NM_198904.4(GABRG2):c.631+5G>C
NM_198904.4(GABRG2):c.631+5_631+8del
NM_198904.4(GABRG2):c.631+6T>C rs1761398589
NM_198904.4(GABRG2):c.643C>A (p.Arg215Ser)
NM_198904.4(GABRG2):c.644G>C (p.Arg215Pro) rs1561645172
NM_198904.4(GABRG2):c.644G>T (p.Arg215Leu) rs1561645172
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly) rs1761616421
NM_198904.4(GABRG2):c.659A>G (p.Tyr220Cys) rs2113370519
NM_198904.4(GABRG2):c.671G>A (p.Arg224Gln)
NM_198904.4(GABRG2):c.679G>A (p.Val227Ile)
NM_198904.4(GABRG2):c.691G>T (p.Asp231Tyr)
NM_198904.4(GABRG2):c.6T>G (p.Ser2Arg)
NM_198904.4(GABRG2):c.71C>A (p.Thr24Lys) rs1060501891
NM_198904.4(GABRG2):c.71C>G (p.Thr24Arg) rs1060501891
NM_198904.4(GABRG2):c.721T>G (p.Ser241Ala)
NM_198904.4(GABRG2):c.727G>A (p.Val243Ile)
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe) rs1287665753
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys) rs549251133
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile) rs1761625389
NM_198904.4(GABRG2):c.769+5G>C rs1761626533
NM_198904.4(GABRG2):c.769+8_769+9delinsAA
NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)
NM_198904.4(GABRG2):c.770-17T>G
NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)
NM_198904.4(GABRG2):c.835A>G (p.Thr279Ala)
NM_198904.4(GABRG2):c.836C>T (p.Thr279Ile) rs1254425203
NM_198904.4(GABRG2):c.838T>G (p.Tyr280Asp) rs1581439671
NM_198904.4(GABRG2):c.841A>T (p.Ile281Phe)
NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe) rs2113081191
NM_198904.4(GABRG2):c.862G>A (p.Val288Ile)
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser) rs1764625911
NM_198904.4(GABRG2):c.874G>T (p.Val292Leu)
NM_198904.4(GABRG2):c.888C>G (p.Ile296Met) rs1382620492
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser) rs1764626977
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_198904.4(GABRG2):c.898G>A (p.Ala300Thr) rs2113599106
NM_198904.4(GABRG2):c.89T>C (p.Leu30Pro)
NM_198904.4(GABRG2):c.907G>A (p.Ala303Thr) rs1581439874
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val) rs796052509
NM_198904.4(GABRG2):c.923-11C>G
NM_198904.4(GABRG2):c.923G>A (p.Gly308Asp) rs1765171348
NM_198904.4(GABRG2):c.927C>G (p.Ile309Met) rs1554100910
NM_198904.4(GABRG2):c.929C>T (p.Thr310Ile) rs2113632484
NM_198904.4(GABRG2):c.931A>G (p.Thr311Ala) rs2113632510
NM_198904.4(GABRG2):c.935T>A (p.Val312Asp)
NM_198904.4(GABRG2):c.937C>A (p.Leu313Met) rs2113632536
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser) rs1765173859
NM_198904.4(GABRG2):c.952C>G (p.Leu318Val) rs1561660795
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp) rs1765176231
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)
NM_198904.4(GABRG2):c.991T>A (p.Tyr331Asn)

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