ClinVar Miner

List of variants reported as likely benign for Early infantile epileptic encephalopathy with suppression bursts

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5264
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=) rs10760566 0.03060
NM_173728.4(ARHGEF15):c.398C>T (p.Pro133Leu) rs115065009 0.00245
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_006030.4(CACNA2D2):c.115G>A (p.Gly39Arg) rs536869186 0.00201
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_173728.4(ARHGEF15):c.2463G>C (p.Gln821His) rs112463375 0.00115
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_173728.4(ARHGEF15):c.1637G>C (p.Arg546Pro) rs142667369 0.00097
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) rs121918818 0.00084
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_006279.5(ST3GAL3):c.1014C>G (p.Thr338=) rs149000966 0.00070
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00068
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_006030.4(CACNA2D2):c.289-8C>A rs200156964 0.00063
NM_173728.4(ARHGEF15):c.601G>C (p.Asp201His) rs114491707 0.00063
NM_021072.4(HCN1):c.1619-3T>C rs376434225 0.00062
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_006030.4(CACNA2D2):c.3291+16G>T rs143845866 0.00059
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_173728.4(ARHGEF15):c.178C>G (p.Pro60Ala) rs149371094 0.00054
NM_139318.5(KCNH5):c.528T>C (p.His176=) rs142252600 0.00052
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755 0.00049
NM_006030.4(CACNA2D2):c.1984+11C>T rs373427507 0.00049
NM_173728.4(ARHGEF15):c.1411G>A (p.Val471Ile) rs113425529 0.00049
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_139318.5(KCNH5):c.943-8A>T rs781526061 0.00045
NM_173728.4(ARHGEF15):c.256G>A (p.Asp86Asn) rs146257701 0.00045
NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) rs141208884 0.00044
NM_006030.4(CACNA2D2):c.406-7C>T rs186631992 0.00044
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618 0.00043
NM_001191061.2(SLC25A22):c.743-12C>T rs200517971 0.00041
NM_139318.5(KCNH5):c.515C>G (p.Thr172Arg) rs34764419 0.00039
NM_173728.4(ARHGEF15):c.652C>T (p.Arg218Trp) rs200767050 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001330260.2(SCN8A):c.992+10T>A rs367746278 0.00038
NM_006279.5(ST3GAL3):c.302+10C>G rs192651565 0.00037
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_006030.4(CACNA2D2):c.1227C>T (p.Asp409=) rs150031515 0.00036
NM_020988.3(GNAO1):c.593+12A>C rs370265621 0.00036
NM_139318.5(KCNH5):c.2097C>A (p.Ser699Arg) rs148812753 0.00036
NM_173728.4(ARHGEF15):c.322G>A (p.Ala108Thr) rs139532485 0.00036
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561 0.00035
NM_173728.4(ARHGEF15):c.255C>T (p.Leu85=) rs141354994 0.00035
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_001330260.2(SCN8A):c.2109T>C (p.Val703=) rs369029348 0.00033
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478 0.00032
NM_020988.3(GNAO1):c.474C>T (p.Asp158=) rs144771965 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=) rs201249013 0.00031
NM_020988.3(GNAO1):c.27G>A (p.Glu9=) rs139334934 0.00031
NM_173728.4(ARHGEF15):c.476G>C (p.Gly159Ala) rs116075794 0.00031
NM_001330260.2(SCN8A):c.1424G>A (p.Arg475Gln) rs201018451 0.00029
NM_006030.4(CACNA2D2):c.1390-9C>A rs200790128 0.00029
NM_021072.4(HCN1):c.2170G>A (p.Ala724Thr) rs141383188 0.00029
NM_139318.5(KCNH5):c.1395A>C (p.Gly465=) rs201996055 0.00029
NM_139318.5(KCNH5):c.261C>T (p.Asn87=) rs150609268 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_020988.3(GNAO1):c.828C>T (p.Gly276=) rs199741926 0.00028
NM_001130438.3(SPTAN1):c.1651-17G>A rs372860106 0.00027
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651 0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_006030.4(CACNA2D2):c.669T>C (p.Asn223=) rs141327265 0.00027
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) rs553120567 0.00027
NM_001165963.4(SCN1A):c.384-21T>A rs373168416 0.00026
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_006030.4(CACNA2D2):c.1683C>T (p.His561=) rs141525581 0.00026
NM_006030.4(CACNA2D2):c.1908-6C>G rs200831326 0.00026
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001191061.2(SLC25A22):c.51C>T (p.Ile17=) rs566076909 0.00025
NM_006030.4(CACNA2D2):c.2295C>T (p.Asn765=) rs139125287 0.00025
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.2778+18G>A rs372896131 0.00024
NM_001165963.4(SCN1A):c.4002+2112T>C rs528876785 0.00024
NM_139318.5(KCNH5):c.2236T>C (p.Ser746Pro) rs34439924 0.00024
NM_173728.4(ARHGEF15):c.1950C>T (p.Gly650=) rs200647100 0.00024
NM_173728.4(ARHGEF15):c.2393C>A (p.Pro798His) rs202178259 0.00024
NM_173728.4(ARHGEF15):c.645C>T (p.His215=) rs202151511 0.00024
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001330260.2(SCN8A):c.2370+14_2370+15del rs768088808 0.00023
NM_021072.4(HCN1):c.201T>C (p.Gly67=) rs779788281 0.00023
NM_001165963.4(SCN1A):c.4002+2053T>C rs541854992 0.00022
NM_001330260.2(SCN8A):c.3820-7T>C rs375785915 0.00022
NM_001330260.2(SCN8A):c.751C>T (p.Leu251=) rs200307006 0.00022
NM_006030.4(CACNA2D2):c.3183C>T (p.Gly1061=) rs200429466 0.00022
NM_173728.4(ARHGEF15):c.2270-20T>A rs373651370 0.00022
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113 0.00021
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=) rs200641770 0.00021
NM_006030.4(CACNA2D2):c.1552-12T>C rs587754429 0.00021
NM_006030.4(CACNA2D2):c.406-20C>T rs370373554 0.00021
NM_173728.4(ARHGEF15):c.2033+8C>T rs371763163 0.00021
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088 0.00020
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001165963.4(SCN1A):c.270T>C (p.Phe90=) rs1424456870 0.00020
NM_006030.4(CACNA2D2):c.3099-9dup rs587726240 0.00020
NM_173728.4(ARHGEF15):c.2442A>G (p.Glu814=) rs140557878 0.00020
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071 0.00019
NM_001130438.3(SPTAN1):c.505-14T>C rs372907681 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=) rs770432127 0.00018
NM_139318.5(KCNH5):c.198-10T>C rs767054080 0.00018
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342 0.00017
NM_001130438.3(SPTAN1):c.4905+19C>T rs140922514 0.00017
NM_006030.4(CACNA2D2):c.243C>T (p.Val81=) rs374658103 0.00017
NM_006279.5(ST3GAL3):c.1075C>T (p.Leu359=) rs200457973 0.00017
NM_001032221.6(STXBP1):c.903-4C>G rs369625158 0.00016
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00016
NM_001330260.2(SCN8A):c.5619C>T (p.Phe1873=) rs372752853 0.00016
NM_006030.4(CACNA2D2):c.1614C>T (p.Thr538=) rs375331798 0.00016
NM_139318.5(KCNH5):c.2953G>T (p.Glu985Ter) rs368953680 0.00016
NM_139318.5(KCNH5):c.733A>G (p.Ile245Val) rs754761406 0.00016
NM_139318.5(KCNH5):c.753T>C (p.Asp251=) rs377418939 0.00016
NM_172107.4(KCNQ2):c.2049C>T (p.His683=) rs150982653 0.00016
NM_172107.4(KCNQ2):c.402C>T (p.Ile134=) rs140712277 0.00016
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=) rs11698044 0.00016
NM_001032221.6(STXBP1):c.1462-12T>C rs370261480 0.00015
NM_001130438.3(SPTAN1):c.4850T>C (p.Met1617Thr) rs753106083 0.00015
NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=) rs376579606 0.00015
NM_001191061.2(SLC25A22):c.678C>T (p.Tyr226=) rs200072903 0.00015
NM_001330260.2(SCN8A):c.369A>G (p.Arg123=) rs201765273 0.00015
NM_001330260.2(SCN8A):c.804C>T (p.Ile268=) rs375241678 0.00015
NM_021072.4(HCN1):c.24C>T (p.Asn8=) rs753690439 0.00015
NM_172107.4(KCNQ2):c.1698C>T (p.Asp566=) rs768228902 0.00015
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val) rs199644682 0.00015
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=) rs143399744 0.00015
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897 0.00014
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622 0.00014
NM_001130438.3(SPTAN1):c.3519+13_3519+14del rs764260912 0.00014
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844 0.00014
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855 0.00014
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) rs141950573 0.00014
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.4002+2640A>C rs534632576 0.00014
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001191061.2(SLC25A22):c.742+9A>G rs370309722 0.00014
NM_001191061.2(SLC25A22):c.930C>T (p.Ile310=) rs765908991 0.00014
NM_001330260.2(SCN8A):c.177G>A (p.Leu59=) rs147027699 0.00014
NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=) rs377396450 0.00014
NM_006030.4(CACNA2D2):c.1260+20G>A rs587741526 0.00014
NM_006030.4(CACNA2D2):c.2028C>T (p.His676=) rs375385112 0.00014
NM_006030.4(CACNA2D2):c.2721C>T (p.Phe907=) rs140117542 0.00014
NM_021072.4(HCN1):c.181G>C (p.Val61Leu) rs900254081 0.00014
NM_021072.4(HCN1):c.1902G>A (p.Gln634=) rs192503845 0.00014
NM_139318.5(KCNH5):c.1347G>A (p.Ser449=) rs776652131 0.00014
NM_001032221.6(STXBP1):c.282G>T (p.Pro94=) rs140873342 0.00013
NM_001165963.4(SCN1A):c.1080T>C (p.Tyr360=) rs371270088 0.00013
NM_001191061.2(SLC25A22):c.897C>T (p.Phe299=) rs7124179 0.00013
NM_001330260.2(SCN8A):c.3582C>T (p.Ile1194=) rs756909923 0.00013
NM_006030.4(CACNA2D2):c.284G>A (p.Arg95His) rs149979955 0.00013
NM_020988.3(GNAO1):c.195C>T (p.Asp65=) rs368113345 0.00013
NM_021072.4(HCN1):c.1521C>T (p.Ala507=) rs55642950 0.00013
NM_001032221.6(STXBP1):c.170-9G>T rs769006053 0.00012
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658 0.00012
NM_001130438.3(SPTAN1):c.4773+13T>A rs539111821 0.00012
NM_001130438.3(SPTAN1):c.4774-18T>A rs534497861 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001330260.2(SCN8A):c.1998+8T>C rs749881958 0.00012
NM_006030.4(CACNA2D2):c.2029G>A (p.Val677Ile) rs139307131 0.00012
NM_020988.3(GNAO1):c.660G>A (p.Thr220=) rs189380751 0.00012
NM_139318.5(KCNH5):c.1884G>A (p.Ala628=) rs776100358 0.00012
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245 0.00012
NM_001032221.6(STXBP1):c.1350C>T (p.Ile450=) rs371948798 0.00011
NM_001032221.6(STXBP1):c.561G>A (p.Pro187=) rs972703931 0.00011
NM_001130438.3(SPTAN1):c.1324-12T>C rs371641680 0.00011
NM_001130438.3(SPTAN1):c.1527C>T (p.His509=) rs201555611 0.00011
NM_001130438.3(SPTAN1):c.1806+15G>T rs372203791 0.00011
NM_001130438.3(SPTAN1):c.2871+9G>A rs774094821 0.00011
NM_001130438.3(SPTAN1):c.4147-13C>G rs374834326 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=) rs765393647 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.4002+2621C>T rs1165497884 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001191061.2(SLC25A22):c.147-10T>G rs779613015 0.00011
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231 0.00011
NM_001330260.2(SCN8A):c.1341+9T>C rs373377688 0.00011
NM_001330260.2(SCN8A):c.5046C>T (p.Ile1682=) rs376759643 0.00011
NM_001330260.2(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221 0.00011
NM_006030.4(CACNA2D2):c.3180T>A (p.Ala1060=) rs138596435 0.00011
NM_006030.4(CACNA2D2):c.391G>A (p.Val131Met) rs199936910 0.00011
NM_021072.4(HCN1):c.2251C>G (p.Pro751Ala) rs758226055 0.00011
NM_021072.4(HCN1):c.2445C>A (p.Ile815=) rs375360013 0.00011
NM_139318.5(KCNH5):c.1119C>T (p.Tyr373=) rs765619899 0.00011
NM_139318.5(KCNH5):c.1217C>G (p.Ala406Gly) rs143926897 0.00011
NM_139318.5(KCNH5):c.304+14T>C rs375852116 0.00011
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.1632-18C>A rs368910668 0.00011
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123 0.00011
NM_173728.4(ARHGEF15):c.204A>G (p.Ala68=) rs144703076 0.00011
NM_173728.4(ARHGEF15):c.504A>G (p.Ala168=) rs550687567 0.00011
NM_001130438.3(SPTAN1):c.3441G>A (p.Leu1147=) rs113157213 0.00010
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=) rs147815147 0.00010
NM_001130438.3(SPTAN1):c.7013+18C>T rs368329742 0.00010
NM_001165963.4(SCN1A):c.2811C>T (p.Phe937=) rs558678383 0.00010
NM_001165963.4(SCN1A):c.4002+2535T>A rs766365175 0.00010
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=) rs199727342 0.00010
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=) rs398123600 0.00010
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00010
NM_006030.4(CACNA2D2):c.1908-5C>A rs377584163 0.00010
NM_006030.4(CACNA2D2):c.3291+14G>A rs376000018 0.00010
NM_006030.4(CACNA2D2):c.3315C>T (p.Arg1105=) rs186468159 0.00010
NM_006279.5(ST3GAL3):c.303-11T>C rs772998180 0.00010
NM_006279.5(ST3GAL3):c.684C>T (p.Leu228=) rs376627212 0.00010
NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val) rs562140660 0.00010
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_173728.4(ARHGEF15):c.601+12G>A rs372262256 0.00010
NM_173728.4(ARHGEF15):c.602-13C>T rs371407417 0.00010
NM_001130438.3(SPTAN1):c.2438-15G>A rs201319189 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.5833-10C>T rs1389531374 0.00009
NM_001130438.3(SPTAN1):c.6405C>T (p.Arg2135=) rs767640999 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293 0.00009
NM_001165963.4(SCN1A):c.3931G>A (p.Ala1311Thr) rs549152510 0.00009
NM_001165963.4(SCN1A):c.4002+2048C>T rs890146293 0.00009
NM_001165963.4(SCN1A):c.4002+2121A>G rs1036524256 0.00009
NM_001191061.2(SLC25A22):c.177C>T (p.Ser59=) rs761165876 0.00009
NM_001191061.2(SLC25A22):c.412+9G>A rs369276282 0.00009
NM_001191061.2(SLC25A22):c.413-12C>T rs587781169 0.00009
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143 0.00009
NM_001330260.2(SCN8A):c.3491-12C>T rs369532655 0.00009
NM_001330260.2(SCN8A):c.5229C>A (p.Ile1743=) rs370268493 0.00009
NM_001330260.2(SCN8A):c.615-17G>C rs772641973 0.00009
NM_006030.4(CACNA2D2):c.2526G>A (p.Glu842=) rs138333067 0.00009
NM_006030.4(CACNA2D2):c.513C>T (p.Asp171=) rs202245003 0.00009
NM_006030.4(CACNA2D2):c.842+7G>A rs587703843 0.00009
NM_006279.5(ST3GAL3):c.166+8C>T rs372849609 0.00009
NM_006279.5(ST3GAL3):c.495T>C (p.Asn165=) rs369936290 0.00009
NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=) rs563317319 0.00009
NM_021072.4(HCN1):c.1011+12C>A rs755646529 0.00009
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr) rs373454105 0.00009
NM_172107.4(KCNQ2):c.1525+15A>G rs751304217 0.00009
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=) rs749958721 0.00009
NM_172107.4(KCNQ2):c.927+20C>T rs377575523 0.00009
NM_173728.4(ARHGEF15):c.1790G>A (p.Arg597His) rs747972645 0.00009
NM_173728.4(ARHGEF15):c.2186+14C>T rs371162185 0.00009
NM_001130438.3(SPTAN1):c.237+10A>G rs746224717 0.00008
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=) rs773435271 0.00008
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626 0.00008
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=) rs762358113 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001165963.4(SCN1A):c.2946+19T>C rs180873219 0.00008
NM_001165963.4(SCN1A):c.3706-20G>A rs187973818 0.00008
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00008
NM_001165963.4(SCN1A):c.4002+2213C>T rs930950827 0.00008
NM_001165963.4(SCN1A):c.4002+2540T>C rs960944425 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001191061.2(SLC25A22):c.651G>A (p.Pro217=) rs768604742 0.00008
NM_001191061.2(SLC25A22):c.75C>T (p.Cys25=) rs764930724 0.00008
NM_001191061.2(SLC25A22):c.819-15G>A rs546478081 0.00008
NM_001330260.2(SCN8A):c.207C>T (p.Tyr69=) rs532501146 0.00008
NM_001330260.2(SCN8A):c.3423A>G (p.Pro1141=) rs376102810 0.00008
NM_021072.4(HCN1):c.2295T>C (p.Asn765=) rs933648147 0.00008
NM_139318.5(KCNH5):c.1257C>T (p.Tyr419=) rs372290413 0.00008
NM_139318.5(KCNH5):c.2651C>T (p.Pro884Leu) rs144667189 0.00008
NM_172107.4(KCNQ2):c.1302-10G>A rs756712314 0.00008
NM_172107.4(KCNQ2):c.1635C>A (p.Val545=) rs375045009 0.00008
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_173728.4(ARHGEF15):c.935-12T>G rs752719110 0.00008
NM_001032221.6(STXBP1):c.1257G>A (p.Thr419=) rs377751165 0.00007
NM_001032221.6(STXBP1):c.1385C>T (p.Pro462Leu) rs752394761 0.00007
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001032221.6(STXBP1):c.1548-15C>A rs772320382 0.00007
NM_001032221.6(STXBP1):c.663+20C>T rs373714441 0.00007
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=) rs76767787 0.00007
NM_001130438.3(SPTAN1):c.7330G>A (p.Asp2444Asn) rs147149360 0.00007
NM_001130438.3(SPTAN1):c.7391C>T (p.Ala2464Val) rs139070536 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=) rs758014915 0.00007
NM_001191061.2(SLC25A22):c.123C>T (p.Asn41=) rs544915540 0.00007
NM_001191061.2(SLC25A22):c.146+12G>A rs765814353 0.00007
NM_001191061.2(SLC25A22):c.150C>T (p.Ser50=) rs201574228 0.00007
NM_001191061.2(SLC25A22):c.294-20C>T rs755464940 0.00007
NM_001330260.2(SCN8A):c.2970C>T (p.Asp990=) rs74798508 0.00007
NM_001330260.2(SCN8A):c.3942+7T>C rs757990460 0.00007
NM_006030.4(CACNA2D2):c.1627-14A>G rs781022613 0.00007
NM_006030.4(CACNA2D2):c.270C>T (p.Gly90=) rs754832829 0.00007
NM_006030.4(CACNA2D2):c.909C>T (p.Ser303=) rs143680645 0.00007
NM_006279.5(ST3GAL3):c.1038+7G>A rs753703868 0.00007
NM_006279.5(ST3GAL3):c.936C>T (p.His312=) rs372260228 0.00007
NM_020988.3(GNAO1):c.75G>A (p.Glu25=) rs182812404 0.00007
NM_021072.4(HCN1):c.1170C>T (p.Val390=) rs369683016 0.00007
NM_021072.4(HCN1):c.939T>C (p.Gly313=) rs746190871 0.00007
NM_139318.5(KCNH5):c.1252T>C (p.Leu418=) rs746183987 0.00007
NM_139318.5(KCNH5):c.2532C>T (p.Pro844=) rs770692227 0.00007
NM_139318.5(KCNH5):c.2691C>T (p.Pro897=) rs140809753 0.00007
NM_139318.5(KCNH5):c.550-11C>G rs368371920 0.00007
NM_172107.4(KCNQ2):c.1239G>A (p.Pro413=) rs372146620 0.00007
NM_173728.4(ARHGEF15):c.2322A>G (p.Gly774=) rs757985432 0.00007
NM_173728.4(ARHGEF15):c.387G>A (p.Thr129=) rs149692144 0.00007
NM_173728.4(ARHGEF15):c.513G>A (p.Pro171=) rs372888591 0.00007
NM_001032221.6(STXBP1):c.1302G>A (p.Pro434=) rs142021261 0.00006
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001032221.6(STXBP1):c.1335C>T (p.His445=) rs372348815 0.00006
NM_001032221.6(STXBP1):c.201G>A (p.Pro67=) rs377398330 0.00006
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=) rs141424626 0.00006
NM_001130438.3(SPTAN1):c.2205T>C (p.Asp735=) rs781437907 0.00006
NM_001130438.3(SPTAN1):c.238-9C>T rs367687143 0.00006
NM_001130438.3(SPTAN1):c.3007-16C>A rs377381640 0.00006
NM_001130438.3(SPTAN1):c.4437C>T (p.Ser1479=) rs373857333 0.00006
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912 0.00006
NM_001130438.3(SPTAN1):c.4492-8T>C rs778949349 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=) rs578124150 0.00006
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=) rs760243298 0.00006
NM_001165963.4(SCN1A):c.1170+16C>T rs377618565 0.00006
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys) rs372372558 0.00006
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702 0.00006
NM_001165963.4(SCN1A):c.2176+11A>C rs201604887 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001165963.4(SCN1A):c.4002+2247A>C rs920922978 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.4852+17G>A rs562963222 0.00006
NM_001165963.4(SCN1A):c.695-18T>C rs199610378 0.00006
NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906 0.00006
NM_001165963.4(SCN1A):c.964+11T>C rs201531417 0.00006
NM_001191061.2(SLC25A22):c.146+11C>T rs372685549 0.00006
NM_001191061.2(SLC25A22):c.207T>G (p.Ala69=) rs527440140 0.00006
NM_001191061.2(SLC25A22):c.693C>T (p.Ala231=) rs530935116 0.00006
NM_001191061.2(SLC25A22):c.777C>T (p.Gly259=) rs373332611 0.00006
NM_001330260.2(SCN8A):c.1149C>T (p.Ala383=) rs201402959 0.00006
NM_001330260.2(SCN8A):c.1509C>A (p.Leu503=) rs376749872 0.00006
NM_001330260.2(SCN8A):c.1536C>T (p.Pro512=) rs770320050 0.00006
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591 0.00006
NM_001330260.2(SCN8A):c.3158T>G (p.Ile1053Ser) rs587780453 0.00006
NM_001330260.2(SCN8A):c.3490+11A>T rs770510526 0.00006
NM_001330260.2(SCN8A):c.360G>C (p.Leu120=) rs368307928 0.00006
NM_001330260.2(SCN8A):c.3966C>T (p.Gly1322=) rs775267842 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001330260.2(SCN8A):c.615-143G>A rs376385273 0.00006
NM_001330260.2(SCN8A):c.858A>T (p.Ile286=) rs370911858 0.00006
NM_006030.4(CACNA2D2):c.1985-14C>T rs769316124 0.00006
NM_006030.4(CACNA2D2):c.2638-7C>G rs780942169 0.00006
NM_006030.4(CACNA2D2):c.3219G>C (p.Pro1073=) rs763919174 0.00006
NM_006030.4(CACNA2D2):c.3333G>A (p.Pro1111=) rs772683542 0.00006
NM_006030.4(CACNA2D2):c.39C>T (p.Pro13=) rs914695299 0.00006
NM_006030.4(CACNA2D2):c.528G>A (p.Glu176=) rs372100606 0.00006
NM_006030.4(CACNA2D2):c.822C>T (p.Tyr274=) rs768567846 0.00006
NM_020988.3(GNAO1):c.118+8C>T rs372787855 0.00006
NM_020988.3(GNAO1):c.186C>T (p.Ser62=) rs200201305 0.00006
NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln) rs200127285 0.00006
NM_020988.3(GNAO1):c.606C>T (p.Val202=) rs150641952 0.00006
NM_020988.3(GNAO1):c.723+11T>C rs1436583224 0.00006
NM_021072.4(HCN1):c.2382C>T (p.Pro794=) rs754764304 0.00006
NM_021072.4(HCN1):c.420T>C (p.Asp140=) rs765004004 0.00006
NM_021072.4(HCN1):c.425+7G>T rs759096969 0.00006
NM_139318.5(KCNH5):c.171C>T (p.Asp57=) rs368773009 0.00006
NM_139318.5(KCNH5):c.2103C>T (p.Pro701=) rs112731796 0.00006
NM_139318.5(KCNH5):c.2364C>T (p.Gly788=) rs753750196 0.00006
NM_139318.5(KCNH5):c.264C>T (p.Tyr88=) rs373008977 0.00006
NM_139318.5(KCNH5):c.304+18T>C rs373281826 0.00006
NM_139318.5(KCNH5):c.810C>T (p.Phe270=) rs376391048 0.00006
NM_172107.4(KCNQ2):c.1764-6C>T rs118192239 0.00006
NM_172107.4(KCNQ2):c.2007G>A (p.Pro669=) rs542053755 0.00006
NM_172107.4(KCNQ2):c.2196C>T (p.Pro732=) rs778953713 0.00006
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=) rs374526673 0.00006
NM_172107.4(KCNQ2):c.515-14C>T rs781295968 0.00006
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_173728.4(ARHGEF15):c.705C>T (p.Pro235=) rs978911023 0.00006
NM_001032221.6(STXBP1):c.1386G>A (p.Pro462=) rs201146381 0.00005
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=) rs201809337 0.00005
NM_001032221.6(STXBP1):c.281C>T (p.Pro94Leu) rs200802985 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2561-18T>C rs369772583 0.00005
NM_001130438.3(SPTAN1):c.2871+8T>C rs1485998372 0.00005
NM_001130438.3(SPTAN1):c.3156-13C>T rs371673291 0.00005
NM_001130438.3(SPTAN1):c.3520-19T>G rs373387372 0.00005
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543 0.00005
NM_001130438.3(SPTAN1):c.3719+17G>A rs539026080 0.00005
NM_001130438.3(SPTAN1):c.3915G>A (p.Glu1305=) rs761628910 0.00005
NM_001130438.3(SPTAN1):c.391T>C (p.Trp131Arg) rs142120579 0.00005
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp) rs150944593 0.00005
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.4959G>A (p.Ala1653=) rs775224497 0.00005
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=) rs758017157 0.00005
NM_001130438.3(SPTAN1):c.5478+13C>T rs369615023 0.00005
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln) rs757178508 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001165963.4(SCN1A):c.1440A>C (p.Ser480=) rs201383347 0.00005
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) rs777120925 0.00005
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684 0.00005
NM_001165963.4(SCN1A):c.2094C>T (p.His698=) rs372260058 0.00005
NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu) rs370037455 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) rs746016312 0.00005
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) rs587781145 0.00005
NM_001165963.4(SCN1A):c.72T>C (p.Ala24=) rs922097254 0.00005
NM_001191061.2(SLC25A22):c.146+7G>A rs376889561 0.00005
NM_001191061.2(SLC25A22):c.222C>T (p.Thr74=) rs1476954002 0.00005
NM_001191061.2(SLC25A22):c.783C>T (p.Asn261=) rs760890948 0.00005
NM_001191061.2(SLC25A22):c.819-16C>T rs572751087 0.00005
NM_001330260.2(SCN8A):c.1611G>A (p.Gly537=) rs774383541 0.00005
NM_001330260.2(SCN8A):c.3351G>A (p.Ser1117=) rs776017244 0.00005
NM_001330260.2(SCN8A):c.3442G>A (p.Val1148Met) rs536452913 0.00005
NM_001330260.2(SCN8A):c.3942+15G>A rs757263803 0.00005
NM_001330260.2(SCN8A):c.4350C>T (p.Phe1450=) rs753234714 0.00005
NM_001330260.2(SCN8A):c.474G>A (p.Ser158=) rs374989727 0.00005
NM_001330260.2(SCN8A):c.5490C>T (p.Ile1830=) rs200546525 0.00005
NM_006030.4(CACNA2D2):c.1377C>T (p.Arg459=) rs1032435949 0.00005
NM_006030.4(CACNA2D2):c.1845+12G>C rs375449776 0.00005
NM_006030.4(CACNA2D2):c.2045+10G>A rs371372561 0.00005
NM_006030.4(CACNA2D2):c.2234+17C>G rs768136232 0.00005
NM_006030.4(CACNA2D2):c.2802G>A (p.Gln934=) rs913350862 0.00005
NM_006030.4(CACNA2D2):c.306G>C (p.Arg102=) rs547024561 0.00005
NM_006279.5(ST3GAL3):c.1039-10C>G rs368686280 0.00005
NM_006279.5(ST3GAL3):c.945C>T (p.Asp315=) rs748922857 0.00005
NM_014191.4(SCN8A):c.657A>G (p.Leu219=) rs773009820 0.00005
NM_139318.5(KCNH5):c.1239C>G (p.Pro413=) rs140173107 0.00005
NM_139318.5(KCNH5):c.304A>C (p.Arg102=) rs141909523 0.00005
NM_172107.4(KCNQ2):c.1526-7C>G rs761567082 0.00005
NM_172107.4(KCNQ2):c.2001G>A (p.Ala667=) rs760711257 0.00005
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909 0.00005
NM_172107.4(KCNQ2):c.2454C>T (p.Asn818=) rs748097158 0.00005
NM_172107.4(KCNQ2):c.2574C>T (p.Gly858=) rs370089050 0.00005
NM_173728.4(ARHGEF15):c.1785C>T (p.Ile595=) rs779827070 0.00005
NM_173728.4(ARHGEF15):c.879C>T (p.Phe293=) rs764749566 0.00005
NM_001032221.6(STXBP1):c.1250-19G>A rs370856785 0.00004
NM_001032221.6(STXBP1):c.132C>T (p.Cys44=) rs373660650 0.00004
NM_001032221.6(STXBP1):c.1359+16A>C rs778666479 0.00004
NM_001032221.6(STXBP1):c.1455C>T (p.Ile485=) rs780944199 0.00004
NM_001032221.6(STXBP1):c.1542C>T (p.Ala514=) rs146226703 0.00004
NM_001032221.6(STXBP1):c.156C>T (p.Thr52=) rs767019310 0.00004
NM_001032221.6(STXBP1):c.1683A>G (p.Gly561=) rs200525496 0.00004
NM_001032221.6(STXBP1):c.1702+7G>C rs763504927 0.00004
NM_001032221.6(STXBP1):c.297C>T (p.Tyr99=) rs149736085 0.00004
NM_001032221.6(STXBP1):c.299G>A (p.Arg100Gln) rs374269726 0.00004
NM_001032221.6(STXBP1):c.430-9C>T rs748770943 0.00004
NM_001032221.6(STXBP1):c.783T>C (p.Asn261=) rs955182405 0.00004
NM_001032221.6(STXBP1):c.885C>T (p.His295=) rs550123888 0.00004
NM_001032221.6(STXBP1):c.902+18C>G rs374633678 0.00004
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=) rs185614333 0.00004
NM_001130438.3(SPTAN1):c.1536T>C (p.Phe512=) rs762887917 0.00004
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu) rs971082831 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.2277G>A (p.Gln759=) rs746674327 0.00004
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=) rs780858157 0.00004
NM_001130438.3(SPTAN1):c.2925C>T (p.Leu975=) rs757453262 0.00004
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=) rs202129574 0.00004
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln) rs368406599 0.00004
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=) rs369531936 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.3215+15A>G rs367678277 0.00004
NM_001130438.3(SPTAN1):c.3215+20T>G rs781343185 0.00004
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=) rs935038001 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00004
NM_001130438.3(SPTAN1):c.4533C>T (p.Leu1511=) rs375026050 0.00004
NM_001130438.3(SPTAN1):c.4662A>G (p.Gln1554=) rs767679923 0.00004
NM_001130438.3(SPTAN1):c.4800T>C (p.Phe1600=) rs370609436 0.00004
NM_001130438.3(SPTAN1):c.505-4A>T rs377129746 0.00004
NM_001130438.3(SPTAN1):c.529C>T (p.Leu177=) rs145554993 0.00004
NM_001130438.3(SPTAN1):c.5409C>T (p.Gly1803=) rs768322079 0.00004
NM_001130438.3(SPTAN1):c.5856C>T (p.Ile1952=) rs141474640 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130438.3(SPTAN1):c.603T>C (p.His201=) rs370807034 0.00004
NM_001130438.3(SPTAN1):c.6150C>T (p.Ala2050=) rs141602301 0.00004
NM_001130438.3(SPTAN1):c.6576+11C>T rs374482693 0.00004
NM_001130438.3(SPTAN1):c.6711C>G (p.Ser2237=) rs151012062 0.00004
NM_001130438.3(SPTAN1):c.6762+11G>A rs775553506 0.00004
NM_001130438.3(SPTAN1):c.6763-8C>T rs761978444 0.00004
NM_001130438.3(SPTAN1):c.6825C>T (p.Ala2275=) rs755559513 0.00004
NM_001130438.3(SPTAN1):c.6858G>A (p.Lys2286=) rs750291744 0.00004
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509 0.00004
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940 0.00004
NM_001130438.3(SPTAN1):c.7248C>T (p.Ser2416=) rs148984013 0.00004
NM_001130438.3(SPTAN1):c.7308+7G>A rs373772795 0.00004
NM_001130438.3(SPTAN1):c.7401C>T (p.Tyr2467=) rs766927132 0.00004
NM_001165963.4(SCN1A):c.132C>T (p.Asp44=) rs372758956 0.00004
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479 0.00004
NM_001165963.4(SCN1A):c.1770C>T (p.Phe590=) rs146520391 0.00004
NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu) rs773681556 0.00004
NM_001165963.4(SCN1A):c.2947-12G>A rs371041932 0.00004
NM_001165963.4(SCN1A):c.3429+19G>C rs945969546 0.00004
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00004
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) rs760181074 0.00004
NM_001165963.4(SCN1A):c.3879+10G>A rs202002728 0.00004
NM_001165963.4(SCN1A):c.4002+2150T>A rs569906674 0.00004
NM_001165963.4(SCN1A):c.4002+2372C>T rs996059069 0.00004
NM_001165963.4(SCN1A):c.4002+2374del rs1260713650 0.00004
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833 0.00004
NM_001165963.4(SCN1A):c.429G>A (p.Val143=) rs1050330603 0.00004
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) rs768638174 0.00004
NM_001165963.4(SCN1A):c.4452T>C (p.Asp1484=) rs1349846696 0.00004
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457 0.00004
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) rs141051370 0.00004
NM_001165963.4(SCN1A):c.5007G>A (p.Ala1669=) rs750366817 0.00004
NM_001165963.4(SCN1A):c.5547C>G (p.Leu1849=) rs140529318 0.00004
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=) rs754371368 0.00004
NM_001165963.4(SCN1A):c.720G>C (p.Leu240=) rs774487780 0.00004
NM_001191061.2(SLC25A22):c.202+14C>T rs587781168 0.00004
NM_001191061.2(SLC25A22):c.21-15C>T rs759055009 0.00004
NM_001191061.2(SLC25A22):c.468C>T (p.Ala156=) rs764277856 0.00004
NM_001191061.2(SLC25A22):c.636C>T (p.Asn212=) rs760280356 0.00004
NM_001191061.2(SLC25A22):c.702G>A (p.Val234=) rs750034215 0.00004
NM_001191061.2(SLC25A22):c.717C>T (p.Ala239=) rs545592967 0.00004
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197 0.00004
NM_001191061.2(SLC25A22):c.885C>T (p.Ile295=) rs543285265 0.00004
NM_001191061.2(SLC25A22):c.888G>A (p.Ala296=) rs768252518 0.00004
NM_001330260.2(SCN8A):c.1215G>A (p.Leu405=) rs751093826 0.00004
NM_001330260.2(SCN8A):c.1230G>A (p.Val410=) rs1905244 0.00004
NM_001330260.2(SCN8A):c.1335G>A (p.Glu445=) rs576113589 0.00004
NM_001330260.2(SCN8A):c.1431T>A (p.Ser477=) rs746262411 0.00004
NM_001330260.2(SCN8A):c.1692C>T (p.Ser564=) rs368959256 0.00004
NM_001330260.2(SCN8A):c.171C>T (p.Ser57=) rs748773097 0.00004
NM_001330260.2(SCN8A):c.1999-4A>T rs765240974 0.00004
NM_001330260.2(SCN8A):c.2463C>T (p.Asp821=) rs773865400 0.00004
NM_001330260.2(SCN8A):c.2802C>T (p.Cys934=) rs762791287 0.00004
NM_001330260.2(SCN8A):c.3090G>A (p.Glu1030=) rs1057523246 0.00004
NM_001330260.2(SCN8A):c.3147C>T (p.Thr1049=) rs567527548 0.00004
NM_001330260.2(SCN8A):c.3490+8G>A rs1469519963 0.00004
NM_001330260.2(SCN8A):c.3491-10C>T rs373221046 0.00004
NM_001330260.2(SCN8A):c.3819+13C>G rs754542157 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001330260.2(SCN8A):c.4524+20T>C rs145702447 0.00004
NM_001330260.2(SCN8A):c.4962C>T (p.Ile1654=) rs766702527 0.00004
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg) rs1410900258 0.00004
NM_001330260.2(SCN8A):c.707-19G>A rs2306553 0.00004
NM_001330260.2(SCN8A):c.744G>A (p.Val248=) rs201298141 0.00004
NM_001330260.2(SCN8A):c.867C>T (p.Asn289=) rs375801783 0.00004
NM_001330260.2(SCN8A):c.95G>A (p.Ser32Asn) rs375419028 0.00004
NM_006030.4(CACNA2D2):c.1153-17C>T rs754668395 0.00004
NM_006030.4(CACNA2D2):c.120C>T (p.Pro40=) rs907775113 0.00004
NM_006030.4(CACNA2D2):c.1260+7C>T rs774988895 0.00004
NM_006030.4(CACNA2D2):c.1365C>T (p.Ile455=) rs760989430 0.00004
NM_006030.4(CACNA2D2):c.1617C>G (p.Pro539=) rs772491153 0.00004
NM_006030.4(CACNA2D2):c.1701+12G>A rs767739198 0.00004
NM_006030.4(CACNA2D2):c.1908-19C>T rs775565884 0.00004
NM_006030.4(CACNA2D2):c.2415G>A (p.Pro805=) rs587642654 0.00004
NM_006030.4(CACNA2D2):c.246C>T (p.Asp82=) rs148056009 0.00004
NM_006030.4(CACNA2D2):c.249C>T (p.Gly83=) rs371367882 0.00004
NM_006030.4(CACNA2D2):c.2769C>T (p.Ser923=) rs753138465 0.00004
NM_006030.4(CACNA2D2):c.2841T>C (p.Ala947=) rs373171224 0.00004
NM_006030.4(CACNA2D2):c.3159G>C (p.Pro1053=) rs373592672 0.00004
NM_006030.4(CACNA2D2):c.3225G>A (p.Gln1075=) rs201966443 0.00004
NM_006030.4(CACNA2D2):c.3384G>A (p.Pro1128=) rs1379269800 0.00004
NM_006030.4(CACNA2D2):c.600G>A (p.Lys200=) rs752766858 0.00004
NM_006030.4(CACNA2D2):c.733C>T (p.Leu245=) rs375779773 0.00004
NM_006030.4(CACNA2D2):c.784+20C>G rs746907949 0.00004
NM_006279.5(ST3GAL3):c.166+13C>T rs768368942 0.00004
NM_006279.5(ST3GAL3):c.462-17C>T rs749798569 0.00004
NM_006279.5(ST3GAL3):c.516G>A (p.Lys172=) rs754735171 0.00004
NM_006279.5(ST3GAL3):c.726C>T (p.Ile242=) rs148477698 0.00004
NM_006279.5(ST3GAL3):c.81G>A (p.Ala27=) rs201489310 0.00004
NM_006279.5(ST3GAL3):c.891+8A>G rs910845282 0.00004
NM_020988.3(GNAO1):c.1020C>T (p.Thr340=) rs765996386 0.00004
NM_020988.3(GNAO1):c.279C>T (p.Ile93=) rs749909537 0.00004
NM_020988.3(GNAO1):c.386T>C (p.Met129Thr) rs200539902 0.00004
NM_020988.3(GNAO1):c.464+19G>A rs373227432 0.00004
NM_020988.3(GNAO1):c.870A>G (p.Glu290=) rs145546431 0.00004
NM_021072.4(HCN1):c.1230+20G>A rs780579570 0.00004
NM_021072.4(HCN1):c.128C>T (p.Pro43Leu) rs1060500095 0.00004
NM_021072.4(HCN1):c.2009C>T (p.Ala670Val) rs142280884 0.00004
NM_021072.4(HCN1):c.2321T>C (p.Leu774Pro) rs149702217 0.00004
NM_021072.4(HCN1):c.312C>T (p.Pro104=) rs750291664 0.00004
NM_139318.5(KCNH5):c.1137C>T (p.Val379=) rs767226876 0.00004
NM_139318.5(KCNH5):c.1569+16G>A rs374773556 0.00004
NM_139318.5(KCNH5):c.1719C>T (p.Pro573=) rs374752391 0.00004
NM_139318.5(KCNH5):c.1887C>T (p.Asn629=) rs373387419 0.00004
NM_139318.5(KCNH5):c.1902G>A (p.Thr634=) rs200142051 0.00004
NM_139318.5(KCNH5):c.197+16G>A rs370733252 0.00004
NM_139318.5(KCNH5):c.197+3A>G rs199592316 0.00004
NM_139318.5(KCNH5):c.1992C>T (p.Leu664=) rs201733636 0.00004
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu) rs761523326 0.00004
NM_139318.5(KCNH5):c.399G>A (p.Leu133=) rs200038886 0.00004
NM_172107.4(KCNQ2):c.1023+19C>T rs761878820 0.00004
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699 0.00004
NM_172107.4(KCNQ2):c.1071C>T (p.His357=) rs368352571 0.00004
NM_172107.4(KCNQ2):c.1149-20C>T rs754997316 0.00004
NM_172107.4(KCNQ2):c.1218-6T>C rs755843563 0.00004
NM_172107.4(KCNQ2):c.1301+15G>A rs571128290 0.00004
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478 0.00004
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) rs775089685 0.00004
NM_172107.4(KCNQ2):c.1626C>T (p.Ala542=) rs564614151 0.00004
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=) rs144909985 0.00004
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val) rs796052612 0.00004
NM_172107.4(KCNQ2):c.2469C>T (p.Ala823=) rs758071891 0.00004
NM_172107.4(KCNQ2):c.627C>A (p.Ile209=) rs749602639 0.00004
NM_172107.4(KCNQ2):c.691-14C>T rs200448016 0.00004
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=) rs370777198 0.00004
NM_173728.4(ARHGEF15):c.1365C>G (p.Pro455=) rs1007687701 0.00004
NM_173728.4(ARHGEF15):c.2034-18G>A rs535168361 0.00004
NM_173728.4(ARHGEF15):c.540T>C (p.Asp180=) rs1192731695 0.00004
NM_173728.4(ARHGEF15):c.768C>T (p.Ile256=) rs1217153535 0.00004
NM_001032221.6(STXBP1):c.1182G>A (p.Leu394=) rs767697287 0.00003
NM_001032221.6(STXBP1):c.1287C>T (p.His429=) rs200002286 0.00003
NM_001032221.6(STXBP1):c.1539C>T (p.Thr513=) rs751251068 0.00003
NM_001032221.6(STXBP1):c.222G>A (p.Val74=) rs778677057 0.00003
NM_001032221.6(STXBP1):c.30C>T (p.Val10=) rs372842480 0.00003
NM_001032221.6(STXBP1):c.326-12T>C rs372027286 0.00003
NM_001032221.6(STXBP1):c.417G>T (p.Pro139=) rs931563377 0.00003
NM_001032221.6(STXBP1):c.552G>A (p.Lys184=) rs759620661 0.00003
NM_001032221.6(STXBP1):c.660G>A (p.Gly220=) rs536049754 0.00003
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=) rs750970364 0.00003
NM_001130438.3(SPTAN1):c.1418A>G (p.Tyr473Cys) rs200948972 0.00003
NM_001130438.3(SPTAN1):c.1462-10C>T rs1469011739 0.00003
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=) rs748193081 0.00003
NM_001130438.3(SPTAN1):c.2117A>G (p.Tyr706Cys) rs1473149290 0.00003
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr) rs1214164128 0.00003
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794 0.00003
NM_001130438.3(SPTAN1):c.2778+8G>C rs375037363 0.00003
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160 0.00003
NM_001130438.3(SPTAN1):c.3216-19C>A rs368814792 0.00003
NM_001130438.3(SPTAN1):c.363+18G>A rs376019489 0.00003
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=) rs201716851 0.00003
NM_001130438.3(SPTAN1):c.4905+7C>T rs752304112 0.00003
NM_001130438.3(SPTAN1):c.4906-15C>T rs756241253 0.00003
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=) rs1046339532 0.00003
NM_001130438.3(SPTAN1):c.5205C>T (p.Phe1735=) rs757734927 0.00003
NM_001130438.3(SPTAN1):c.5469G>A (p.Pro1823=) rs142234188 0.00003
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=) rs759088264 0.00003
NM_001130438.3(SPTAN1):c.5700C>T (p.Ser1900=) rs779393161 0.00003
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr) rs777950008 0.00003
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile) rs371095095 0.00003
NM_001130438.3(SPTAN1):c.651+13G>A rs200409897 0.00003
NM_001130438.3(SPTAN1):c.6689+10C>T rs769263723 0.00003
NM_001130438.3(SPTAN1):c.6689+20G>A rs768065593 0.00003
NM_001130438.3(SPTAN1):c.6707+10G>C rs374760508 0.00003
NM_001130438.3(SPTAN1):c.6762+10C>T rs367706466 0.00003
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802 0.00003
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=) rs577730526 0.00003
NM_001130438.3(SPTAN1):c.6959+15T>C rs776795375 0.00003
NM_001130438.3(SPTAN1):c.6959+7G>A rs373990901 0.00003
NM_001130438.3(SPTAN1):c.7014-16C>T rs137913528 0.00003
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=) rs369792563 0.00003
NM_001130438.3(SPTAN1):c.7302C>T (p.Leu2434=) rs758405090 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001165963.4(SCN1A):c.1029-11C>G rs561758475 0.00003
NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=) rs757535449 0.00003
NM_001165963.4(SCN1A):c.135C>G (p.Asp45Glu) rs201985242 0.00003
NM_001165963.4(SCN1A):c.1388C>T (p.Thr463Met) rs752591998 0.00003
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534 0.00003
NM_001165963.4(SCN1A):c.1663-17C>T rs753105591 0.00003
NM_001165963.4(SCN1A):c.1888C>T (p.Arg630Trp) rs565855062 0.00003
NM_001165963.4(SCN1A):c.2658C>T (p.Ser886=) rs776714907 0.00003
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343 0.00003
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) rs375953445 0.00003
NM_001165963.4(SCN1A):c.3584A>G (p.Asn1195Ser) rs754010186 0.00003
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr) rs749638533 0.00003
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) rs775820803 0.00003
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=) rs1176622466 0.00003
NM_001165963.4(SCN1A):c.4339-12C>G rs776548109 0.00003
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) rs139300715 0.00003
NM_001165963.4(SCN1A):c.4582-12A>G rs752455718 0.00003
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) rs121918808 0.00003
NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=) rs369500022 0.00003
NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=) rs746651472 0.00003
NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=) rs767698089 0.00003
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) rs371243629 0.00003
NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu) rs754661378 0.00003
NM_001165963.4(SCN1A):c.717C>G (p.Ala239=) rs759923734 0.00003
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771 0.00003
NM_001165963.4(SCN1A):c.965-20G>A rs369517865 0.00003
NM_001191061.2(SLC25A22):c.15G>A (p.Gln5=) rs370880055 0.00003
NM_001191061.2(SLC25A22):c.20+7C>T rs376421164 0.00003
NM_001191061.2(SLC25A22):c.294-14C>T rs200362178 0.00003
NM_001191061.2(SLC25A22):c.45C>T (p.Gly15=) rs748378875 0.00003
NM_001191061.2(SLC25A22):c.474C>T (p.Pro158=) rs556959164 0.00003
NM_001191061.2(SLC25A22):c.525C>T (p.Arg175=) rs368124957 0.00003
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=) rs769899113 0.00003
NM_001191061.2(SLC25A22):c.708G>A (p.Gly236=) rs1246435430 0.00003
NM_001191061.2(SLC25A22):c.743-15G>A rs780768183 0.00003
NM_001191061.2(SLC25A22):c.873C>T (p.Arg291=) rs1060502506 0.00003
NM_001191061.2(SLC25A22):c.903C>T (p.Ile301=) rs564026448 0.00003
NM_001191061.2(SLC25A22):c.909G>A (p.Gln303=) rs756957992 0.00003
NM_001191061.2(SLC25A22):c.922C>T (p.Leu308=) rs758596118 0.00003
NM_001191061.2(SLC25A22):c.933G>A (p.Ala311=) rs587781170 0.00003
NM_001330260.2(SCN8A):c.1173C>T (p.Phe391=) rs886049582 0.00003
NM_001330260.2(SCN8A):c.1475G>A (p.Arg492His) rs750170064 0.00003
NM_001330260.2(SCN8A):c.1545G>T (p.Val515=) rs779561924 0.00003
NM_001330260.2(SCN8A):c.1737C>G (p.Ser579=) rs770853019 0.00003
NM_001330260.2(SCN8A):c.1770G>A (p.Thr590=) rs773379793 0.00003
NM_001330260.2(SCN8A):c.195G>A (p.Leu65=) rs748136961 0.00003
NM_001330260.2(SCN8A):c.1998+10G>C rs755729617 0.00003
NM_001330260.2(SCN8A):c.2628C>G (p.Gly876=) rs1466016560 0.00003
NM_001330260.2(SCN8A):c.3272A>G (p.Asn1091Ser) rs558738676 0.00003
NM_001330260.2(SCN8A):c.3373-13C>T rs750470187 0.00003
NM_001330260.2(SCN8A):c.4446C>T (p.Thr1482=) rs374059983 0.00003
NM_001330260.2(SCN8A):c.4725G>A (p.Ala1575=) rs756326813 0.00003
NM_001330260.2(SCN8A):c.4770C>T (p.Phe1590=) rs368421269 0.00003
NM_001330260.2(SCN8A):c.485+18G>A rs369368623 0.00003
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996 0.00003
NM_001330260.2(SCN8A):c.5007G>C (p.Gly1669=) rs371439977 0.00003
NM_001330260.2(SCN8A):c.5271C>T (p.Val1757=) rs752174650 0.00003
NM_001330260.2(SCN8A):c.549C>T (p.Cys183=) rs767336706 0.00003
NM_001330260.2(SCN8A):c.5506A>G (p.Met1836Val) rs202187894 0.00003
NM_001330260.2(SCN8A):c.5580G>A (p.Gly1860=) rs201484402 0.00003
NM_006030.4(CACNA2D2):c.1261-9C>A rs1399637742 0.00003
NM_006030.4(CACNA2D2):c.1281C>G (p.Ser427=) rs150534078 0.00003
NM_006030.4(CACNA2D2):c.1479+16A>G rs1316006148 0.00003
NM_006030.4(CACNA2D2):c.1552-7C>T rs767292142 0.00003
NM_006030.4(CACNA2D2):c.1702-8T>A rs202196387 0.00003
NM_006030.4(CACNA2D2):c.2045+9C>T rs781061359 0.00003
NM_006030.4(CACNA2D2):c.2424G>A (p.Leu808=) rs1326470378 0.00003
NM_006030.4(CACNA2D2):c.2637+9_2637+10dup rs748948707 0.00003
NM_006030.4(CACNA2D2):c.2710-5C>G rs779228458 0.00003
NM_006030.4(CACNA2D2):c.2862+14G>A rs764792607 0.00003
NM_006030.4(CACNA2D2):c.2916-6C>G rs587715324 0.00003
NM_006030.4(CACNA2D2):c.312G>A (p.Leu104=) rs373316010 0.00003
NM_006030.4(CACNA2D2):c.3209-6G>A rs370983531 0.00003
NM_006030.4(CACNA2D2):c.3292-10C>T rs766363334 0.00003
NM_006030.4(CACNA2D2):c.576C>T (p.Ile192=) rs753595795 0.00003
NM_006030.4(CACNA2D2):c.653-12G>A rs370885012 0.00003
NM_006030.4(CACNA2D2):c.843-20C>T rs369335153 0.00003
NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=) rs771844125 0.00003
NM_006279.5(ST3GAL3):c.543T>C (p.Tyr181=) rs923119659 0.00003
NM_006279.5(ST3GAL3):c.711G>A (p.Lys237=) rs763616499 0.00003
NM_020988.3(GNAO1):c.1008C>T (p.Phe336=) rs763429802 0.00003
NM_020988.3(GNAO1):c.309C>T (p.Asp103=) rs372103298 0.00003
NM_020988.3(GNAO1):c.351C>T (p.Thr117=) rs770385484 0.00003
NM_020988.3(GNAO1):c.498C>T (p.Ala166=) rs774947928 0.00003
NM_020988.3(GNAO1):c.897C>T (p.Asp299=) rs148878451 0.00003
NM_020988.3(GNAO1):c.987G>A (p.Thr329=) rs201638233 0.00003
NM_021072.4(HCN1):c.1044A>C (p.Ala348=) rs745452621 0.00003
NM_021072.4(HCN1):c.1143C>T (p.Val381=) rs761760627 0.00003
NM_021072.4(HCN1):c.1182C>T (p.Thr394=) rs1261922847 0.00003
NM_021072.4(HCN1):c.1969A>G (p.Thr657Ala) rs748070273 0.00003
NM_021072.4(HCN1):c.2232G>A (p.Pro744=) rs757283749 0.00003
NM_021072.4(HCN1):c.2469C>T (p.Pro823=) rs142485423 0.00003
NM_021072.4(HCN1):c.2659G>A (p.Ala887Thr) rs757124569 0.00003
NM_021072.4(HCN1):c.265C>A (p.Arg89=) rs763705954 0.00003
NM_021072.4(HCN1):c.298T>G (p.Ser100Ala) rs780364002 0.00003
NM_021072.4(HCN1):c.369G>A (p.Glu123=) rs956231769 0.00003
NM_021072.4(HCN1):c.726A>C (p.Gly242=) rs199622227 0.00003
NM_021072.4(HCN1):c.993G>A (p.Val331=) rs890637108 0.00003
NM_139318.5(KCNH5):c.1557T>C (p.Ile519=) rs759624671 0.00003
NM_139318.5(KCNH5):c.1935C>G (p.Ala645=) rs377008686 0.00003
NM_139318.5(KCNH5):c.2238C>T (p.Ser746=) rs780581992 0.00003
NM_139318.5(KCNH5):c.2361C>T (p.Asn787=) rs778860669 0.00003
NM_139318.5(KCNH5):c.396G>A (p.Thr132=) rs143574473 0.00003
NM_172107.4(KCNQ2):c.1118+8C>T rs754114486 0.00003
NM_172107.4(KCNQ2):c.1137C>T (p.Tyr379=) rs781144303 0.00003
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.1374G>A (p.Pro458=) rs777441037 0.00003
NM_172107.4(KCNQ2):c.1632-8C>T rs751010696 0.00003
NM_172107.4(KCNQ2):c.1914C>T (p.Asp638=) rs367845107 0.00003
NM_172107.4(KCNQ2):c.1992G>A (p.Pro664=) rs866315162 0.00003
NM_172107.4(KCNQ2):c.2040C>T (p.Val680=) rs368050380 0.00003
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=) rs766273173 0.00003
NM_172107.4(KCNQ2):c.2088G>A (p.Thr696=) rs776224647 0.00003
NM_172107.4(KCNQ2):c.2127T>C (p.Pro709=) rs113174319 0.00003
NM_172107.4(KCNQ2):c.2208C>T (p.His736=) rs566020693 0.00003
NM_172107.4(KCNQ2):c.2259C>T (p.Ser753=) rs749802787 0.00003
NM_172107.4(KCNQ2):c.2604C>T (p.Ala868=) rs572267938 0.00003
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=) rs200224824 0.00003
NM_172107.4(KCNQ2):c.426C>T (p.Phe142=) rs780770793 0.00003
NM_172107.4(KCNQ2):c.691-5C>T rs886056921 0.00003
NM_173728.4(ARHGEF15):c.1362C>A (p.Thr454=) rs1376463435 0.00003
NM_173728.4(ARHGEF15):c.2033+19A>C rs375517299 0.00003
NM_173728.4(ARHGEF15):c.2356C>T (p.Leu786=) rs747082972 0.00003
NM_173728.4(ARHGEF15):c.63C>T (p.Arg21=) rs577853522 0.00003
NM_001032221.6(STXBP1):c.1030-16T>C rs764937444 0.00002
NM_001032221.6(STXBP1):c.1462-13C>G rs199700009 0.00002
NM_001032221.6(STXBP1):c.1632T>C (p.Gly544=) rs748307696 0.00002
NM_001032221.6(STXBP1):c.255C>T (p.His85=) rs768884290 0.00002
NM_001032221.6(STXBP1):c.365G>A (p.Arg122Gln) rs773885228 0.00002
NM_001130438.3(SPTAN1):c.1350G>A (p.Ala450=) rs374478564 0.00002
NM_001130438.3(SPTAN1):c.1461+14A>C rs376751145 0.00002
NM_001130438.3(SPTAN1):c.1548T>C (p.Leu516=) rs909370953 0.00002
NM_001130438.3(SPTAN1):c.1683A>G (p.Arg561=) rs772119238 0.00002
NM_001130438.3(SPTAN1):c.1707A>G (p.Leu569=) rs757578154 0.00002
NM_001130438.3(SPTAN1):c.1758G>A (p.Lys586=) rs758019827 0.00002
NM_001130438.3(SPTAN1):c.2194-19T>C rs371322683 0.00002
NM_001130438.3(SPTAN1):c.237+5G>A rs747501430 0.00002
NM_001130438.3(SPTAN1):c.2438-19G>T rs760955571 0.00002
NM_001130438.3(SPTAN1):c.2560+8del rs768243872 0.00002
NM_001130438.3(SPTAN1):c.2589C>G (p.Ala863=) rs528752928 0.00002
NM_001130438.3(SPTAN1):c.2778+17A>G rs757140291 0.00002
NM_001130438.3(SPTAN1):c.2796C>T (p.His932=) rs755933560 0.00002
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=) rs777441722 0.00002
NM_001130438.3(SPTAN1):c.3155+12A>G rs184577750 0.00002
NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=) rs776441600 0.00002
NM_001130438.3(SPTAN1):c.3216-15C>G rs762562811 0.00002
NM_001130438.3(SPTAN1):c.3219T>C (p.Tyr1073=) rs761538979 0.00002
NM_001130438.3(SPTAN1):c.3579+10C>T rs1417674497 0.00002
NM_001130438.3(SPTAN1):c.357C>T (p.Thr119=) rs759573145 0.00002
NM_001130438.3(SPTAN1):c.3719+9_3719+10insTC rs896571703 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4017C>T (p.His1339=) rs745529207 0.00002
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=) rs371100708 0.00002
NM_001130438.3(SPTAN1):c.4725T>C (p.Ser1575=) rs753055605 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.4809G>A (p.Glu1603=) rs745887395 0.00002
NM_001130438.3(SPTAN1):c.5044-16G>C rs747282086 0.00002
NM_001130438.3(SPTAN1):c.5139T>C (p.Ser1713=) rs755166792 0.00002
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=) rs775305903 0.00002
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=) rs780530803 0.00002
NM_001130438.3(SPTAN1):c.5358-18T>A rs754212051 0.00002
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028 0.00002
NM_001130438.3(SPTAN1):c.5689C>T (p.Leu1897=) rs755434212 0.00002
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507 0.00002
NM_001130438.3(SPTAN1):c.57G>A (p.Arg19=) rs1015182699 0.00002
NM_001130438.3(SPTAN1):c.5913C>T (p.Ala1971=) rs373426828 0.00002
NM_001130438.3(SPTAN1):c.5943G>A (p.Ser1981=) rs556796231 0.00002
NM_001130438.3(SPTAN1):c.5993-9G>A rs761329975 0.00002
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426 0.00002
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527 0.00002
NM_001130438.3(SPTAN1):c.6300C>G (p.Thr2100=) rs370624702 0.00002
NM_001130438.3(SPTAN1):c.6303C>T (p.Phe2101=) rs1057522086 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.6404G>A (p.Arg2135His) rs373259652 0.00002
NM_001130438.3(SPTAN1):c.6411C>G (p.Ala2137=) rs966742359 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=) rs551663711 0.00002
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=) rs370113838 0.00002
NM_001130438.3(SPTAN1):c.6577-12T>C rs1004458044 0.00002
NM_001130438.3(SPTAN1):c.6689+19C>T rs1166975063 0.00002
NM_001130438.3(SPTAN1):c.6702C>T (p.Leu2234=) rs750819513 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.678C>T (p.Ile226=) rs1716799949 0.00002
NM_001130438.3(SPTAN1):c.7074C>T (p.Arg2358=) rs771456936 0.00002
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001130438.3(SPTAN1):c.7418C>T (p.Ser2473Leu) rs371177004 0.00002
NM_001130438.3(SPTAN1):c.789T>C (p.Asp263=) rs772435490 0.00002
NM_001130438.3(SPTAN1):c.930+18del rs1564211538 0.00002
NM_001165963.4(SCN1A):c.1278C>T (p.Tyr426=) rs146515561 0.00002
NM_001165963.4(SCN1A):c.1389G>A (p.Thr463=) rs766100236 0.00002
NM_001165963.4(SCN1A):c.1663-7C>T rs759815616 0.00002
NM_001165963.4(SCN1A):c.1911G>A (p.Ala637=) rs192102141 0.00002
NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=) rs1379958414 0.00002
NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=) rs993370830 0.00002
NM_001165963.4(SCN1A):c.2043+9G>A rs1389330683 0.00002
NM_001165963.4(SCN1A):c.2078G>T (p.Arg693Met) rs750260160 0.00002
NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg) rs764865083 0.00002
NM_001165963.4(SCN1A):c.2177-15_2177-14insC rs762175641 0.00002
NM_001165963.4(SCN1A):c.2378C>T (p.Thr793Met) rs762038032 0.00002
NM_001165963.4(SCN1A):c.2577T>C (p.Arg859=) rs569598595 0.00002
NM_001165963.4(SCN1A):c.2587T>C (p.Leu863=) rs542026944 0.00002
NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=) rs778280690 0.00002
NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met) rs185760342 0.00002
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=) rs764174474 0.00002
NM_001165963.4(SCN1A):c.2947-7T>G rs913084871 0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=) rs797045939 0.00002
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=) rs895560193 0.00002
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=) rs727504137 0.00002
NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile) rs146374754 0.00002
NM_001165963.4(SCN1A):c.3550+16C>T rs1000651886 0.00002
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=) rs376901032 0.00002
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) rs566081370 0.00002
NM_001165963.4(SCN1A):c.3879+9C>T rs570092799 0.00002
NM_001165963.4(SCN1A):c.3978C>T (p.Ala1326=) rs150831315 0.00002
NM_001165963.4(SCN1A):c.4002+2084A>G rs1355573329 0.00002
NM_001165963.4(SCN1A):c.4002+2370T>C rs1188572792 0.00002
NM_001165963.4(SCN1A):c.4002+2494T>C rs1057202299 0.00002
NM_001165963.4(SCN1A):c.4002+8A>G rs762574934 0.00002
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001165963.4(SCN1A):c.473+14A>G rs376301638 0.00002
NM_001165963.4(SCN1A):c.5028A>G (p.Leu1676=) rs763806559 0.00002
NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=) rs372367100 0.00002
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=) rs1044871344 0.00002
NM_001165963.4(SCN1A):c.5787C>T (p.His1929=) rs371253263 0.00002
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) rs1358776988 0.00002
NM_001165963.4(SCN1A):c.5874C>T (p.Asp1958=) rs951275940 0.00002
NM_001165963.4(SCN1A):c.670T>C (p.Leu224=) rs764891727 0.00002
NM_001165963.4(SCN1A):c.765G>A (p.Val255=) rs377331238 0.00002
NM_001165963.4(SCN1A):c.777C>T (p.Ser259=) rs121918735 0.00002
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) rs373772491 0.00002
NM_001165963.4(SCN1A):c.919G>A (p.Glu307Lys) rs1275890918 0.00002
NM_001165963.4(SCN1A):c.981G>A (p.Leu327=) rs758723150 0.00002
NM_001191061.2(SLC25A22):c.147-5C>T rs755769739 0.00002
NM_001191061.2(SLC25A22):c.294-10C>T rs751196462 0.00002
NM_001191061.2(SLC25A22):c.294-7A>C rs762588496 0.00002
NM_001191061.2(SLC25A22):c.453G>A (p.Ser151=) rs559239495 0.00002
NM_001191061.2(SLC25A22):c.519G>T (p.Leu173=) rs761180722 0.00002
NM_001191061.2(SLC25A22):c.529C>T (p.Leu177=) rs757171068 0.00002
NM_001191061.2(SLC25A22):c.54C>T (p.Ala18=) rs950168213 0.00002
NM_001191061.2(SLC25A22):c.587+14G>A rs754046647 0.00002
NM_001191061.2(SLC25A22):c.657C>T (p.Ser219=) rs200830331 0.00002
NM_001191061.2(SLC25A22):c.681G>A (p.Val227=) rs376895051 0.00002
NM_001191061.2(SLC25A22):c.818+15C>T rs201177114 0.00002
NM_001191061.2(SLC25A22):c.849C>T (p.Ala283=) rs1429166947 0.00002
NM_001330260.2(SCN8A):c.1329G>A (p.Gln443=) rs1394886694 0.00002
NM_001330260.2(SCN8A):c.1350G>A (p.Ala450=) rs779130227 0.00002
NM_001330260.2(SCN8A):c.1818G>C (p.Arg606=) rs777424314 0.00002
NM_001330260.2(SCN8A):c.2067C>G (p.Ala689=) rs773463881 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001330260.2(SCN8A):c.2159C>T (p.Pro720Leu) rs373603736 0.00002
NM_001330260.2(SCN8A):c.2448T>C (p.Gly816=) rs545621709 0.00002
NM_001330260.2(SCN8A):c.2616G>T (p.Val872=) rs778358285 0.00002
NM_001330260.2(SCN8A):c.288A>G (p.Val96=) rs761884033 0.00002
NM_001330260.2(SCN8A):c.2902-19T>C rs1424387561 0.00002
NM_001330260.2(SCN8A):c.2979A>G (p.Glu993=) rs1454483862 0.00002
NM_001330260.2(SCN8A):c.3102G>A (p.Leu1034=) rs912679379 0.00002
NM_001330260.2(SCN8A):c.3219C>T (p.Ser1073=) rs771098374 0.00002
NM_001330260.2(SCN8A):c.3480C>T (p.Cys1160=) rs760251864 0.00002
NM_001330260.2(SCN8A):c.3528C>T (p.Ile1176=) rs369453843 0.00002
NM_001330260.2(SCN8A):c.3639C>T (p.Gly1213=) rs113227803 0.00002
NM_001330260.2(SCN8A):c.3643C>T (p.Leu1215=) rs532528307 0.00002
NM_001330260.2(SCN8A):c.4005C>T (p.Leu1335=) rs1030141528 0.00002
NM_001330260.2(SCN8A):c.4206A>T (p.Gly1402=) rs762625933 0.00002
NM_001330260.2(SCN8A):c.420C>T (p.Cys140=) rs763742447 0.00002
NM_001330260.2(SCN8A):c.4359C>T (p.Phe1453=) rs746544103 0.00002
NM_001330260.2(SCN8A):c.4413G>A (p.Lys1471=) rs776485215 0.00002
NM_001330260.2(SCN8A):c.4524+12G>T rs370931597 0.00002
NM_001330260.2(SCN8A):c.4953G>T (p.Leu1651=) rs1169917584 0.00002
NM_001330260.2(SCN8A):c.5151C>T (p.Arg1717=) rs368067079 0.00002
NM_001330260.2(SCN8A):c.5649C>T (p.Tyr1883=) rs769484993 0.00002
NM_001330260.2(SCN8A):c.624A>G (p.Thr208=) rs776597416 0.00002
NM_001330260.2(SCN8A):c.654G>A (p.Ala218=) rs762033775 0.00002
NM_001330260.2(SCN8A):c.706+9A>T rs1428314992 0.00002
NM_001330260.2(SCN8A):c.810G>A (p.Leu270=) rs377606066 0.00002
NM_001330260.2(SCN8A):c.814C>T (p.Leu272=) rs769727012 0.00002
NM_006030.4(CACNA2D2):c.1153-16G>A rs757150304 0.00002
NM_006030.4(CACNA2D2):c.1170C>T (p.Ala390=) rs1413955767 0.00002
NM_006030.4(CACNA2D2):c.129G>A (p.Pro43=) rs983143827 0.00002
NM_006030.4(CACNA2D2):c.1302C>T (p.Asp434=) rs587671504 0.00002
NM_006030.4(CACNA2D2):c.1340-10T>C rs943689382 0.00002
NM_006030.4(CACNA2D2):c.1638C>T (p.Asn546=) rs774958851 0.00002
NM_006030.4(CACNA2D2):c.1908-18G>A rs772184939 0.00002
NM_006030.4(CACNA2D2):c.2062C>T (p.Leu688=) rs373347526 0.00002
NM_006030.4(CACNA2D2):c.2085C>T (p.Thr695=) rs758343310 0.00002
NM_006030.4(CACNA2D2):c.2181G>A (p.Thr727=) rs369166288 0.00002
NM_006030.4(CACNA2D2):c.258G>C (p.Arg86=) rs920212073 0.00002
NM_006030.4(CACNA2D2):c.2709+18A>T rs765560727 0.00002
NM_006030.4(CACNA2D2):c.2910C>T (p.Ala970=) rs767405244 0.00002
NM_006030.4(CACNA2D2):c.3099-14C>T rs1014476394 0.00002
NM_006030.4(CACNA2D2):c.3099-4G>A rs1025272956 0.00002
NM_006030.4(CACNA2D2):c.3186G>T (p.Arg1062=) rs373966675 0.00002
NM_006030.4(CACNA2D2):c.3291+13G>A rs752517321 0.00002
NM_006030.4(CACNA2D2):c.3321C>T (p.Ala1107=) rs377531685 0.00002
NM_006030.4(CACNA2D2):c.453G>A (p.Gln151=) rs773956475 0.00002
NM_006030.4(CACNA2D2):c.945C>T (p.Cys315=) rs147958763 0.00002
NM_006279.5(ST3GAL3):c.12G>A (p.Leu4=) rs1034986338 0.00002
NM_006279.5(ST3GAL3):c.447C>T (p.Thr149=) rs146876059 0.00002
NM_006279.5(ST3GAL3):c.537C>T (p.Asp179=) rs201012151 0.00002
NM_006279.5(ST3GAL3):c.564T>C (p.Asn188=) rs138286395 0.00002
NM_006279.5(ST3GAL3):c.594C>T (p.Asp198=) rs199996868 0.00002
NM_006279.5(ST3GAL3):c.630C>T (p.Pro210=) rs763641682 0.00002
NM_006279.5(ST3GAL3):c.744+10C>G rs528505595 0.00002
NM_006279.5(ST3GAL3):c.744+15C>T rs749535087 0.00002
NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=) rs773763812 0.00002
NM_020988.3(GNAO1):c.1014C>T (p.Ala338=) rs369818930 0.00002
NM_020988.3(GNAO1):c.21A>G (p.Ala7=) rs1396370689 0.00002
NM_020988.3(GNAO1):c.252C>T (p.Ile84=) rs756947463 0.00002
NM_020988.3(GNAO1):c.393C>G (p.Leu131=) rs766107260 0.00002
NM_020988.3(GNAO1):c.417G>A (p.Glu139=) rs369305192 0.00002
NM_020988.3(GNAO1):c.543A>G (p.Lys181=) rs761449625 0.00002
NM_020988.3(GNAO1):c.724-20C>T rs774930699 0.00002
NM_020988.3(GNAO1):c.724-4G>A rs373051247 0.00002
NM_020988.3(GNAO1):c.744C>T (p.Leu248=) rs377336410 0.00002
NM_020988.3(GNAO1):c.825T>C (p.Phe275=) rs778172059 0.00002
NM_020988.3(GNAO1):c.903C>T (p.Ala301=) rs543764725 0.00002
NM_020988.3(GNAO1):c.936C>T (p.Asn312=) rs200323041 0.00002
NM_021072.4(HCN1):c.1257A>T (p.Ser419=) rs770306188 0.00002
NM_021072.4(HCN1):c.1497A>G (p.Gly499=) rs142913986 0.00002
NM_021072.4(HCN1):c.1716C>A (p.Val572=) rs769174129 0.00002
NM_021072.4(HCN1):c.2060C>A (p.Thr687Asn) rs748584173 0.00002
NM_021072.4(HCN1):c.2306A>G (p.Lys769Arg) rs773048153 0.00002
NM_021072.4(HCN1):c.2507C>T (p.Pro836Leu) rs368989823 0.00002
NM_021072.4(HCN1):c.2560C>A (p.Arg854=) rs534013981 0.00002
NM_021072.4(HCN1):c.573C>A (p.Ile191=) rs771244051 0.00002
NM_021072.4(HCN1):c.599A>G (p.Asn200Ser) rs374770620 0.00002
NM_021072.4(HCN1):c.75G>T (p.Ala25=) rs990297986 0.00002
NM_021072.4(HCN1):c.795C>A (p.Leu265=) rs775887697 0.00002
NM_139318.5(KCNH5):c.136G>A (p.Gly46Ser) rs777644149 0.00002
NM_139318.5(KCNH5):c.1624C>T (p.Arg542Trp) rs543742412 0.00002
NM_139318.5(KCNH5):c.2082T>C (p.Asn694=) rs148060194 0.00002
NM_139318.5(KCNH5):c.2148G>A (p.Gln716=) rs562417762 0.00002
NM_139318.5(KCNH5):c.2244C>T (p.Thr748=) rs140878753 0.00002
NM_139318.5(KCNH5):c.2289G>A (p.Thr763=) rs1286363254 0.00002
NM_139318.5(KCNH5):c.2355G>A (p.Lys785=) rs758116293 0.00002
NM_139318.5(KCNH5):c.2493C>T (p.Val831=) rs142813655 0.00002
NM_139318.5(KCNH5):c.2829G>A (p.Ser943=) rs761472576 0.00002
NM_139318.5(KCNH5):c.33G>A (p.Pro11=) rs775018863 0.00002
NM_139318.5(KCNH5):c.765C>T (p.Asp255=) rs150295358 0.00002
NM_172107.4(KCNQ2):c.1044C>T (p.Ala348=) rs749122254 0.00002
NM_172107.4(KCNQ2):c.1056G>A (p.Ser352=) rs769146180 0.00002
NM_172107.4(KCNQ2):c.1233G>A (p.Pro411=) rs757596960 0.00002
NM_172107.4(KCNQ2):c.1260G>A (p.Pro420=) rs1202103328 0.00002
NM_172107.4(KCNQ2):c.1525+12C>T rs767442522 0.00002
NM_172107.4(KCNQ2):c.1526-4C>T rs1396502704 0.00002
NM_172107.4(KCNQ2):c.1572C>T (p.Pro524=) rs779813699 0.00002
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293 0.00002
NM_172107.4(KCNQ2):c.1605C>T (p.Gly535=) rs767958822 0.00002
NM_172107.4(KCNQ2):c.1631+19C>T rs770084619 0.00002
NM_172107.4(KCNQ2):c.1726C>T (p.Leu576=) rs745406707 0.00002
NM_172107.4(KCNQ2):c.1776C>T (p.Ile592=) rs201868078 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.1998G>A (p.Pro666=) rs777059029 0.00002
NM_172107.4(KCNQ2):c.2004G>A (p.Pro668=) rs771807099 0.00002
NM_172107.4(KCNQ2):c.2316G>A (p.Pro772=) rs587780367 0.00002
NM_172107.4(KCNQ2):c.2523C>T (p.Thr841=) rs760979156 0.00002
NM_172107.4(KCNQ2):c.441C>T (p.Ala147=) rs150930894 0.00002
NM_172107.4(KCNQ2):c.531C>T (p.Ile177=) rs1170316817 0.00002
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=) rs764119402 0.00002
NM_172107.4(KCNQ2):c.681C>T (p.Ala227=) rs1472366685 0.00002
NM_172107.4(KCNQ2):c.691-13G>A rs547887704 0.00002
NM_172107.4(KCNQ2):c.745C>T (p.Leu249=) rs759151870 0.00002
NM_172107.4(KCNQ2):c.855C>G (p.Pro285=) rs746960988 0.00002
NM_172107.4(KCNQ2):c.867C>T (p.Asn289=) rs749934609 0.00002
NM_172107.4(KCNQ2):c.900C>T (p.Ile300=) rs764404303 0.00002
NM_173728.4(ARHGEF15):c.1560C>T (p.Thr520=) rs1169737002 0.00002
NM_173728.4(ARHGEF15):c.1575-9C>T rs1293683804 0.00002
NM_173728.4(ARHGEF15):c.1710C>A (p.Ile570=) rs1191886010 0.00002
NM_173728.4(ARHGEF15):c.183C>T (p.Ile61=) rs542926076 0.00002
NM_173728.4(ARHGEF15):c.1872+8G>A rs770664122 0.00002
NM_173728.4(ARHGEF15):c.1990C>T (p.Leu664=) rs775010360 0.00002
NM_173728.4(ARHGEF15):c.2418G>T (p.Val806=) rs777007358 0.00002
NM_173728.4(ARHGEF15):c.375G>T (p.Gly125=) rs757098576 0.00002
NM_173728.4(ARHGEF15):c.531G>A (p.Ala177=) rs926331333 0.00002
NM_001032221.6(STXBP1):c.1083C>T (p.Thr361=) rs866871870 0.00001
NM_001032221.6(STXBP1):c.1107G>A (p.Glu369=) rs376244106 0.00001
NM_001032221.6(STXBP1):c.1111-8T>C rs1207244961 0.00001
NM_001032221.6(STXBP1):c.1141G>C (p.Glu381Gln) rs762767233 0.00001
NM_001032221.6(STXBP1):c.1250-7C>T rs1323549123 0.00001
NM_001032221.6(STXBP1):c.1256C>T (p.Thr419Met) rs748965227 0.00001
NM_001032221.6(STXBP1):c.1301C>T (p.Pro434Leu) rs773261815 0.00001
NM_001032221.6(STXBP1):c.1331C>T (p.Ala444Val) rs1216426174 0.00001
NM_001032221.6(STXBP1):c.1338C>T (p.Leu446=) rs752950410 0.00001
NM_001032221.6(STXBP1):c.1360-15T>C rs763197862 0.00001
NM_001032221.6(STXBP1):c.1360-7C>T rs895077278 0.00001
NM_001032221.6(STXBP1):c.1365G>A (p.Thr455=) rs767843953 0.00001
NM_001032221.6(STXBP1):c.1373G>A (p.Arg458His) rs796053371 0.00001
NM_001032221.6(STXBP1):c.1375C>T (p.Arg459Trp) rs750968891 0.00001
NM_001032221.6(STXBP1):c.1461+12G>A rs369896782 0.00001
NM_001032221.6(STXBP1):c.1599T>C (p.Ser533=) rs755906740 0.00001
NM_001032221.6(STXBP1):c.1656C>T (p.Cys552=) rs942940725 0.00001
NM_001032221.6(STXBP1):c.1659C>T (p.Ala553=) rs772279866 0.00001
NM_001032221.6(STXBP1):c.169+10C>T rs1060504318 0.00001
NM_001032221.6(STXBP1):c.169+14C>T rs755773785 0.00001
NM_001032221.6(STXBP1):c.1702+1799C>T rs1057523938 0.00001
NM_001032221.6(STXBP1):c.1702+9C>T rs1026137028 0.00001
NM_001032221.6(STXBP1):c.246+12A>G rs770867031 0.00001
NM_001032221.6(STXBP1):c.246+8T>C rs746997293 0.00001
NM_001032221.6(STXBP1):c.249C>T (p.Ser83=) rs756273104 0.00001
NM_001032221.6(STXBP1):c.285G>A (p.Pro95=) rs773724420 0.00001
NM_001032221.6(STXBP1):c.309C>T (p.His103=) rs763763696 0.00001
NM_001032221.6(STXBP1):c.326-10A>G rs772431982 0.00001
NM_001032221.6(STXBP1):c.326-16T>C rs1450982335 0.00001
NM_001032221.6(STXBP1):c.429+12T>C rs1057522202 0.00001
NM_001032221.6(STXBP1):c.42T>C (p.Ile14=) rs755497428 0.00001
NM_001032221.6(STXBP1):c.430-7T>G rs981193334 0.00001
NM_001032221.6(STXBP1):c.512G>A (p.Arg171His) rs773211322 0.00001
NM_001032221.6(STXBP1):c.531G>A (p.Ala177=) rs1057520999 0.00001
NM_001032221.6(STXBP1):c.547C>T (p.Leu183=) rs753725349 0.00001
NM_001032221.6(STXBP1):c.558C>T (p.Tyr186=) rs1841140996 0.00001
NM_001032221.6(STXBP1):c.578+11G>T rs201797980 0.00001
NM_001032221.6(STXBP1):c.675G>A (p.Lys225=) rs1554777466 0.00001
NM_001032221.6(STXBP1):c.690C>T (p.Leu230=) rs764186314 0.00001
NM_001032221.6(STXBP1):c.795-14C>T rs754375406 0.00001
NM_001032221.6(STXBP1):c.813C>T (p.Ile271=) rs965524767 0.00001
NM_001032221.6(STXBP1):c.823C>T (p.Arg275Trp) rs780641675 0.00001
NM_001032221.6(STXBP1):c.852C>T (p.Asp284=) rs141782684 0.00001
NM_001032221.6(STXBP1):c.855C>T (p.Asp285=) rs143755818 0.00001
NM_001032221.6(STXBP1):c.856G>A (p.Asp286Asn) rs768644260 0.00001
NM_001032221.6(STXBP1):c.861G>A (p.Leu287=) rs984512975 0.00001
NM_001032221.6(STXBP1):c.876C>T (p.Arg292=) rs778838622 0.00001
NM_001032221.6(STXBP1):c.88-11T>C rs1363749374 0.00001
NM_001032221.6(STXBP1):c.902+10C>T rs760108945 0.00001
NM_001032221.6(STXBP1):c.942G>A (p.Lys314=) rs1257587761 0.00001
NM_001032221.6(STXBP1):c.975G>A (p.Arg325=) rs1376618964 0.00001
NM_001130438.3(SPTAN1):c.1068G>C (p.Arg356=) rs752146614 0.00001
NM_001130438.3(SPTAN1):c.1086-7T>C rs1382809916 0.00001
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=) rs570171059 0.00001
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=) rs774051017 0.00001
NM_001130438.3(SPTAN1):c.1155T>C (p.Asn385=) rs1325465304 0.00001
NM_001130438.3(SPTAN1):c.1200A>G (p.Leu400=) rs931502378 0.00001
NM_001130438.3(SPTAN1):c.1222-12T>C rs1158347123 0.00001
NM_001130438.3(SPTAN1):c.1233T>C (p.Asp411=) rs1398538214 0.00001
NM_001130438.3(SPTAN1):c.1248C>T (p.Ser416=) rs1851708614 0.00001
NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=) rs1442175070 0.00001
NM_001130438.3(SPTAN1):c.1324-11A>G rs771460214 0.00001
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=) rs193111526 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1416C>T (p.Phe472=) rs767265808 0.00001
NM_001130438.3(SPTAN1):c.1458G>A (p.Gln486=) rs753753168 0.00001
NM_001130438.3(SPTAN1):c.1495T>C (p.Leu499=) rs748615499 0.00001
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=) rs763879792 0.00001
NM_001130438.3(SPTAN1):c.1573-13T>C rs1052807020 0.00001
NM_001130438.3(SPTAN1):c.1575A>G (p.Ala525=) rs1589211921 0.00001
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=) rs1057520489 0.00001
NM_001130438.3(SPTAN1):c.1608C>T (p.Asn536=) rs1232400211 0.00001
NM_001130438.3(SPTAN1):c.1650+9G>A rs745454196 0.00001
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=) rs587784432 0.00001
NM_001130438.3(SPTAN1):c.1701C>T (p.Ala567=) rs1391943816 0.00001
NM_001130438.3(SPTAN1):c.1806+6G>C rs760820851 0.00001
NM_001130438.3(SPTAN1):c.1807-15T>G rs1416846037 0.00001
NM_001130438.3(SPTAN1):c.1821A>G (p.Leu607=) rs774410639 0.00001
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=) rs376957536 0.00001
NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=) rs765540595 0.00001
NM_001130438.3(SPTAN1):c.2043G>A (p.Gln681=) rs771555109 0.00001
NM_001130438.3(SPTAN1):c.2058T>C (p.Asn686=) rs1015052595 0.00001
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=) rs369710857 0.00001
NM_001130438.3(SPTAN1):c.2118C>T (p.Tyr706=) rs760281970 0.00001
NM_001130438.3(SPTAN1):c.2286C>T (p.Leu762=) rs745436802 0.00001
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp) rs148258493 0.00001
NM_001130438.3(SPTAN1):c.2371C>A (p.Arg791=) rs769380398 0.00001
NM_001130438.3(SPTAN1):c.238-8G>A rs750970258 0.00001
NM_001130438.3(SPTAN1):c.2394G>A (p.Thr798=) rs768271102 0.00001
NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=) rs1329573763 0.00001
NM_001130438.3(SPTAN1):c.2430C>T (p.Thr810=) rs754228048 0.00001
NM_001130438.3(SPTAN1):c.2464C>T (p.Leu822=) rs765706270 0.00001
NM_001130438.3(SPTAN1):c.2496A>G (p.Glu832=) rs1245531904 0.00001
NM_001130438.3(SPTAN1):c.2498T>C (p.Ile833Thr) rs904041405 0.00001
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=) rs761166458 0.00001
NM_001130438.3(SPTAN1):c.2772T>C (p.Ser924=) rs143939145 0.00001
NM_001130438.3(SPTAN1):c.2778+7A>C rs1481569035 0.00001
NM_001130438.3(SPTAN1):c.2799A>G (p.Glu933=) rs1368341471 0.00001
NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=) rs533717545 0.00001
NM_001130438.3(SPTAN1):c.2871+15G>A rs771636267 0.00001
NM_001130438.3(SPTAN1):c.2910G>A (p.Glu970=) rs763235552 0.00001
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=) rs756378105 0.00001
NM_001130438.3(SPTAN1):c.2978T>C (p.Ile993Thr) rs1215852038 0.00001
NM_001130438.3(SPTAN1):c.3000C>G (p.Thr1000=) rs1194481175 0.00001
NM_001130438.3(SPTAN1):c.3007-19C>T rs779899640 0.00001
NM_001130438.3(SPTAN1):c.3027G>A (p.Val1009=) rs774659049 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3075C>T (p.Asp1025=) rs755615190 0.00001
NM_001130438.3(SPTAN1):c.3081C>G (p.Ala1027=) rs749251486 0.00001
NM_001130438.3(SPTAN1):c.3090C>T (p.Ala1030=) rs1314188538 0.00001
NM_001130438.3(SPTAN1):c.3155+17G>A rs765814431 0.00001
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255 0.00001
NM_001130438.3(SPTAN1):c.3216-18C>T rs372969086 0.00001
NM_001130438.3(SPTAN1):c.3282T>C (p.Phe1094=) rs1045745615 0.00001
NM_001130438.3(SPTAN1):c.3315A>G (p.Gln1105=) rs779226167 0.00001
NM_001130438.3(SPTAN1):c.3357C>T (p.Val1119=) rs1279884865 0.00001
NM_001130438.3(SPTAN1):c.3414+17G>A rs767504664 0.00001
NM_001130438.3(SPTAN1):c.3414+3A>G rs1554752325 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3543+10G>A rs754641622 0.00001
NM_001130438.3(SPTAN1):c.3543+12G>A rs376482975 0.00001
NM_001130438.3(SPTAN1):c.3543+9C>T rs746280203 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3612C>T (p.Thr1204=) rs1409357698 0.00001
NM_001130438.3(SPTAN1):c.3613T>C (p.Phe1205Leu) rs1334812460 0.00001
NM_001130438.3(SPTAN1):c.363+17C>T rs764216482 0.00001
NM_001130438.3(SPTAN1):c.363+7A>G rs371781354 0.00001
NM_001130438.3(SPTAN1):c.3633G>A (p.Leu1211=) rs1484600745 0.00001
NM_001130438.3(SPTAN1):c.364-19T>C rs200978151 0.00001
NM_001130438.3(SPTAN1):c.3681G>A (p.Gln1227=) rs1307231651 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3719+15C>G rs369108363 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3720-8G>A rs771588342 0.00001
NM_001130438.3(SPTAN1):c.3735C>T (p.Thr1245=) rs942685766 0.00001
NM_001130438.3(SPTAN1):c.3741A>G (p.Glu1247=) rs1248662462 0.00001
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=) rs199902257 0.00001
NM_001130438.3(SPTAN1):c.3801T>C (p.Ser1267=) rs751784689 0.00001
NM_001130438.3(SPTAN1):c.3865-7C>T rs1248978165 0.00001
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=) rs1278108281 0.00001
NM_001130438.3(SPTAN1):c.4008T>C (p.Gly1336=) rs780641212 0.00001
NM_001130438.3(SPTAN1):c.4038C>T (p.Ser1346=) rs768542176 0.00001
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=) rs1220521892 0.00001
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=) rs759713935 0.00001
NM_001130438.3(SPTAN1):c.4174G>A (p.Ala1392Thr) rs972500325 0.00001
NM_001130438.3(SPTAN1):c.4345-10C>T rs996303937 0.00001
NM_001130438.3(SPTAN1):c.4345-8C>T rs1374814925 0.00001
NM_001130438.3(SPTAN1):c.4554C>G (p.Ala1518=) rs765079561 0.00001
NM_001130438.3(SPTAN1):c.4595+9C>T rs771798239 0.00001
NM_001130438.3(SPTAN1):c.4596-19C>G rs1317299803 0.00001
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212 0.00001
NM_001130438.3(SPTAN1):c.4632G>A (p.Arg1544=) rs774198117 0.00001
NM_001130438.3(SPTAN1):c.4722G>A (p.Ala1574=) rs886972447 0.00001
NM_001130438.3(SPTAN1):c.4758+10A>T rs1856301701 0.00001
NM_001130438.3(SPTAN1):c.4759-8T>G rs747171460 0.00001
NM_001130438.3(SPTAN1):c.4774-20A>G rs1856587421 0.00001
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=) rs539062498 0.00001
NM_001130438.3(SPTAN1):c.4905+12C>A rs1272876073 0.00001
NM_001130438.3(SPTAN1):c.4905+18C>G rs751336135 0.00001
NM_001130438.3(SPTAN1):c.4910G>A (p.Arg1637His) rs777707442 0.00001
NM_001130438.3(SPTAN1):c.4926T>C (p.Ala1642=) rs768791824 0.00001
NM_001130438.3(SPTAN1):c.5001C>T (p.Asn1667=) rs781381237 0.00001
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=) rs886063506 0.00001
NM_001130438.3(SPTAN1):c.505-18C>T rs1057522078 0.00001
NM_001130438.3(SPTAN1):c.510A>G (p.Ala170=) rs1404143666 0.00001
NM_001130438.3(SPTAN1):c.5148+17G>A rs758490204 0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437 0.00001
NM_001130438.3(SPTAN1):c.5149-15T>C rs370741251 0.00001
NM_001130438.3(SPTAN1):c.5244C>T (p.Asn1748=) rs747794736 0.00001
NM_001130438.3(SPTAN1):c.5280C>G (p.Ser1760=) rs1857089934 0.00001
NM_001130438.3(SPTAN1):c.5361G>A (p.Glu1787=) rs756977702 0.00001
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=) rs777780283 0.00001
NM_001130438.3(SPTAN1):c.5550G>A (p.Leu1850=) rs1857392790 0.00001
NM_001130438.3(SPTAN1):c.55C>A (p.Arg19=) rs748232676 0.00001
NM_001130438.3(SPTAN1):c.5601-17C>T rs762938535 0.00001
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=) rs749391487 0.00001
NM_001130438.3(SPTAN1):c.5733+13C>T rs371182687 0.00001
NM_001130438.3(SPTAN1):c.5784G>A (p.Lys1928=) rs761784727 0.00001
NM_001130438.3(SPTAN1):c.5831A>T (p.Lys1944Met) rs1857813082 0.00001
NM_001130438.3(SPTAN1):c.5832+16T>C rs1308278456 0.00001
NM_001130438.3(SPTAN1):c.5832+18G>A rs1447545553 0.00001
NM_001130438.3(SPTAN1):c.5832+9A>G rs1431187706 0.00001
NM_001130438.3(SPTAN1):c.5833-5C>T rs1326464989 0.00001
NM_001130438.3(SPTAN1):c.5853C>T (p.Asn1951=) rs776448694 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.5929C>T (p.Leu1977=) rs745668882 0.00001
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=) rs1060504931 0.00001
NM_001130438.3(SPTAN1):c.5979G>A (p.Val1993=) rs1413553922 0.00001
NM_001130438.3(SPTAN1):c.6054G>A (p.Thr2018=) rs1480779005 0.00001
NM_001130438.3(SPTAN1):c.6058C>T (p.Leu2020Phe) rs751012803 0.00001
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393 0.00001
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=) rs1310120255 0.00001
NM_001130438.3(SPTAN1):c.6147C>T (p.Leu2049=) rs778917848 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6240C>T (p.Arg2080=) rs757354191 0.00001
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=) rs370102482 0.00001
NM_001130438.3(SPTAN1):c.6312G>A (p.Lys2104=) rs759120249 0.00001
NM_001130438.3(SPTAN1):c.6321C>T (p.Ala2107=) rs769488004 0.00001
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=) rs537595625 0.00001
NM_001130438.3(SPTAN1):c.6453C>T (p.Asp2151=) rs376208532 0.00001
NM_001130438.3(SPTAN1):c.651+10A>G rs1851181711 0.00001
NM_001130438.3(SPTAN1):c.652-5T>C rs1029752624 0.00001
NM_001130438.3(SPTAN1):c.6594G>A (p.Leu2198=) rs776820062 0.00001
NM_001130438.3(SPTAN1):c.6707+8T>C rs759068430 0.00001
NM_001130438.3(SPTAN1):c.6708-6G>A rs375772117 0.00001
NM_001130438.3(SPTAN1):c.6729G>A (p.Ser2243=) rs140856932 0.00001
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=) rs762644827 0.00001
NM_001130438.3(SPTAN1):c.6763-12C>T rs774215534 0.00001
NM_001130438.3(SPTAN1):c.6763-5T>C rs1442294534 0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439 0.00001
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=) rs766550915 0.00001
NM_001130438.3(SPTAN1):c.7013+10G>A rs759648854 0.00001
NM_001130438.3(SPTAN1):c.7013+19G>A rs370654629 0.00001
NM_001130438.3(SPTAN1):c.7014-20C>T rs1444973251 0.00001
NM_001130438.3(SPTAN1):c.7068C>T (p.Cys2356=) rs538402865 0.00001
NM_001130438.3(SPTAN1):c.7073G>A (p.Arg2358His) rs773474201 0.00001
NM_001130438.3(SPTAN1):c.7160+16C>T rs772488907 0.00001
NM_001130438.3(SPTAN1):c.7161-13C>T rs1489017459 0.00001
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=) rs778129817 0.00001
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=) rs1239084886 0.00001
NM_001130438.3(SPTAN1):c.7308+9C>T rs1860031125 0.00001
NM_001130438.3(SPTAN1):c.7309-17C>T rs1860104765 0.00001
NM_001130438.3(SPTAN1):c.7309-7C>T rs866813546 0.00001
NM_001130438.3(SPTAN1):c.7329C>T (p.Ala2443=) rs769426014 0.00001
NM_001130438.3(SPTAN1):c.7338C>T (p.Cys2446=) rs374405583 0.00001
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile) rs761874094 0.00001
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=) rs756798259 0.00001
NM_001130438.3(SPTAN1):c.785+12G>C rs774982401 0.00001
NM_001130438.3(SPTAN1):c.84C>T (p.Arg28=) rs1447324542 0.00001
NM_001130438.3(SPTAN1):c.859C>T (p.Leu287=) rs1851406473 0.00001
NM_001130438.3(SPTAN1):c.873G>A (p.Gln291=) rs891278524 0.00001
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070 0.00001
NM_001165963.4(SCN1A):c.1032A>G (p.Gln344=) rs999958974 0.00001
NM_001165963.4(SCN1A):c.1107T>C (p.Ser369=) rs760220733 0.00001
NM_001165963.4(SCN1A):c.1171-19C>A rs929127955 0.00001
NM_001165963.4(SCN1A):c.1173A>G (p.Thr391=) rs766892870 0.00001
NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=) rs753890879 0.00001
NM_001165963.4(SCN1A):c.1225T>C (p.Leu409=) rs770033555 0.00001
NM_001165963.4(SCN1A):c.1248T>C (p.Asn416=) rs748267258 0.00001
NM_001165963.4(SCN1A):c.1326C>T (p.Ala442=) rs753601387 0.00001
NM_001165963.4(SCN1A):c.1377+16C>T rs1252711576 0.00001
NM_001165963.4(SCN1A):c.1378-10T>C rs777800447 0.00001
NM_001165963.4(SCN1A):c.1378-18C>A rs1434521938 0.00001
NM_001165963.4(SCN1A):c.1527G>A (p.Gln509=) rs147149558 0.00001
NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn) rs757923791 0.00001
NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys) rs761062389 0.00001
NM_001165963.4(SCN1A):c.1620G>C (p.Gly540=) rs1417472613 0.00001
NM_001165963.4(SCN1A):c.1627T>C (p.Leu543=) rs200951734 0.00001
NM_001165963.4(SCN1A):c.1767C>T (p.Asp589=) rs367613290 0.00001
NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=) rs727504141 0.00001
NM_001165963.4(SCN1A):c.1827T>C (p.Phe609=) rs769310645 0.00001
NM_001165963.4(SCN1A):c.1835G>A (p.Arg612Gln) rs1060502184 0.00001
NM_001165963.4(SCN1A):c.1842C>T (p.His614=) rs370463183 0.00001
NM_001165963.4(SCN1A):c.1845A>G (p.Gly615=) rs758615134 0.00001
NM_001165963.4(SCN1A):c.1872G>A (p.Gln624=) rs1256209754 0.00001
NM_001165963.4(SCN1A):c.1875C>T (p.Thr625=) rs1423227098 0.00001
NM_001165963.4(SCN1A):c.1881G>A (p.Arg627=) rs376049002 0.00001
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val) rs1336507340 0.00001
NM_001165963.4(SCN1A):c.1895T>A (p.Leu632Gln) rs201987598 0.00001
NM_001165963.4(SCN1A):c.18T>G (p.Leu6=) rs1553561004 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001165963.4(SCN1A):c.1928G>A (p.Ser643Asn) rs369178649 0.00001
NM_001165963.4(SCN1A):c.1932T>C (p.Thr644=) rs769257218 0.00001
NM_001165963.4(SCN1A):c.1969C>A (p.Pro657Thr) rs747395931 0.00001
NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile) rs780340848 0.00001
NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr) rs1315723631 0.00001
NM_001165963.4(SCN1A):c.2043+20T>A rs760034595 0.00001
NM_001165963.4(SCN1A):c.2145T>C (p.Ser715=) rs772751252 0.00001
NM_001165963.4(SCN1A):c.2177-10dup rs774232184 0.00001
NM_001165963.4(SCN1A):c.2202C>T (p.Cys734=) rs1454284939 0.00001
NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=) rs753714341 0.00001
NM_001165963.4(SCN1A):c.228C>G (p.Pro76=) rs1173774565 0.00001
NM_001165963.4(SCN1A):c.2379G>A (p.Thr793=) rs776842943 0.00001
NM_001165963.4(SCN1A):c.2451G>C (p.Leu817=) rs1304400552 0.00001
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=) rs575554223 0.00001
NM_001165963.4(SCN1A):c.2520G>T (p.Val840=) rs757851017 0.00001
NM_001165963.4(SCN1A):c.2523G>A (p.Thr841=) rs1165918262 0.00001
NM_001165963.4(SCN1A):c.2547C>T (p.Leu849=) rs147360576 0.00001
NM_001165963.4(SCN1A):c.2551A>G (p.Asn851Asp) rs1450206187 0.00001
NM_001165963.4(SCN1A):c.2589+12_2589+13insC rs779108974 0.00001
NM_001165963.4(SCN1A):c.2593C>A (p.Arg865=) rs794726697 0.00001
NM_001165963.4(SCN1A):c.264+20C>T rs1254193559 0.00001
NM_001165963.4(SCN1A):c.264+8T>G rs1433805634 0.00001
NM_001165963.4(SCN1A):c.265-14T>C rs765088995 0.00001
NM_001165963.4(SCN1A):c.265-4A>G rs776470979 0.00001
NM_001165963.4(SCN1A):c.2655T>C (p.Asn885=) rs1696668881 0.00001
NM_001165963.4(SCN1A):c.2721C>T (p.Val907=) rs748504238 0.00001
NM_001165963.4(SCN1A):c.2841G>A (p.Val947=) rs760484751 0.00001
NM_001165963.4(SCN1A):c.2877T>C (p.Cys959=) rs775214722 0.00001
NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe) rs752532497 0.00001
NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=) rs370793418 0.00001
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.3195T>C (p.His1065=) rs145219358 0.00001
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys) rs1226603266 0.00001
NM_001165963.4(SCN1A):c.3225T>C (p.Tyr1075=) rs1358367140 0.00001
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=) rs961517010 0.00001
NM_001165963.4(SCN1A):c.3357A>G (p.Val1119=) rs771222969 0.00001
NM_001165963.4(SCN1A):c.3408G>A (p.Ser1136=) rs181995339 0.00001
NM_001165963.4(SCN1A):c.3435G>A (p.Leu1145=) rs371910801 0.00001
NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys) rs368609628 0.00001
NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=) rs769635347 0.00001
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=) rs1057524122 0.00001
NM_001165963.4(SCN1A):c.3551-3C>T rs1225446966 0.00001
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) rs780607306 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.3576T>C (p.Cys1192=) rs150638891 0.00001
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=) rs377326177 0.00001
NM_001165963.4(SCN1A):c.3651T>C (p.His1217=) rs538655845 0.00001
NM_001165963.4(SCN1A):c.366T>C (p.Ile122=) rs752918105 0.00001
NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=) rs200745708 0.00001
NM_001165963.4(SCN1A):c.3807A>C (p.Leu1269=) rs1359405350 0.00001
NM_001165963.4(SCN1A):c.384-15T>C rs1172183466 0.00001
NM_001165963.4(SCN1A):c.384-19T>C rs1467239671 0.00001
NM_001165963.4(SCN1A):c.384-3T>C rs368381487 0.00001
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=) rs998325208 0.00001
NM_001165963.4(SCN1A):c.4002+2023A>G rs1052506764 0.00001
NM_001165963.4(SCN1A):c.4002+2199G>C rs1048104424 0.00001
NM_001165963.4(SCN1A):c.4002+2214G>A rs1414799202 0.00001
NM_001165963.4(SCN1A):c.4002+2336G>A rs147529489 0.00001
NM_001165963.4(SCN1A):c.4002+2360A>G rs1029107872 0.00001
NM_001165963.4(SCN1A):c.4002+2374G>A rs899082987 0.00001
NM_001165963.4(SCN1A):c.4002+2381C>T rs537142789 0.00001
NM_001165963.4(SCN1A):c.4002+2407A>G rs1191367818 0.00001
NM_001165963.4(SCN1A):c.4002+2436C>T rs1272621179 0.00001
NM_001165963.4(SCN1A):c.4002+2510C>T rs1574028087 0.00001
NM_001165963.4(SCN1A):c.4002+2561T>C rs762618716 0.00001
NM_001165963.4(SCN1A):c.4002+2568G>A rs980081654 0.00001
NM_001165963.4(SCN1A):c.4003-18T>C rs1305983184 0.00001
NM_001165963.4(SCN1A):c.4125C>T (p.His1375=) rs370788427 0.00001
NM_001165963.4(SCN1A):c.4143T>G (p.Thr1381=) rs1240740243 0.00001
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=) rs761168283 0.00001
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) rs1295072436 0.00001
NM_001165963.4(SCN1A):c.4284+14A>G rs370074740 0.00001
NM_001165963.4(SCN1A):c.4284+19C>A rs1383995139 0.00001
NM_001165963.4(SCN1A):c.4338+12T>C rs761062999 0.00001
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=) rs587781146 0.00001
NM_001165963.4(SCN1A):c.4477-6C>G rs1470740998 0.00001
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) rs778620898 0.00001
NM_001165963.4(SCN1A):c.4581+10A>G rs766780193 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4582-11T>C rs377533926 0.00001
NM_001165963.4(SCN1A):c.4582-19C>T rs1246767396 0.00001
NM_001165963.4(SCN1A):c.4659T>G (p.Leu1553=) rs764244249 0.00001
NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=) rs774376498 0.00001
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=) rs1559110682 0.00001
NM_001165963.4(SCN1A):c.473+9A>C rs571963052 0.00001
NM_001165963.4(SCN1A):c.4788C>T (p.Arg1596=) rs762836573 0.00001
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) rs1379533666 0.00001
NM_001165963.4(SCN1A):c.4896T>C (p.Pro1632=) rs1689370353 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_001165963.4(SCN1A):c.5052C>T (p.Tyr1684=) rs1433806086 0.00001
NM_001165963.4(SCN1A):c.5064G>T (p.Gly1688=) rs752375814 0.00001
NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn) rs748333147 0.00001
NM_001165963.4(SCN1A):c.5151A>G (p.Leu1717=) rs1177078569 0.00001
NM_001165963.4(SCN1A):c.5169T>G (p.Ser1723=) rs1168333541 0.00001
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=) rs140664455 0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763 0.00001
NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=) rs765676433 0.00001
NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=) rs762310676 0.00001
NM_001165963.4(SCN1A):c.5451C>T (p.Pro1817=) rs776991363 0.00001
NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=) rs754566611 0.00001
NM_001165963.4(SCN1A):c.5511G>A (p.Pro1837=) rs1689194398 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.5601C>T (p.Ile1867=) rs1573944589 0.00001
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747 0.00001
NM_001165963.4(SCN1A):c.5673G>A (p.Glu1891=) rs1457641968 0.00001
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) rs587781149 0.00001
NM_001165963.4(SCN1A):c.5802T>C (p.Thr1934=) rs1391765490 0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) rs763997333 0.00001
NM_001165963.4(SCN1A):c.5970A>C (p.Thr1990=) rs1295648726 0.00001
NM_001165963.4(SCN1A):c.6024G>A (p.Gly2008=) rs370049341 0.00001
NM_001165963.4(SCN1A):c.603-6T>C rs376845691 0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) rs374555589 0.00001
NM_001165963.4(SCN1A):c.639G>A (p.Ser213=) rs200975276 0.00001
NM_001165963.4(SCN1A):c.643T>C (p.Leu215=) rs779837260 0.00001
NM_001165963.4(SCN1A):c.678G>A (p.Thr226=) rs571355844 0.00001
NM_001165963.4(SCN1A):c.694+9A>G rs754260524 0.00001
NM_001165963.4(SCN1A):c.837A>G (p.Gln279=) rs778654049 0.00001
NM_001165963.4(SCN1A):c.846C>A (p.Pro282=) rs1352832546 0.00001
NM_001165963.4(SCN1A):c.870T>C (p.His290=) rs755274788 0.00001
NM_001165963.4(SCN1A):c.892G>A (p.Val298Met) rs772149865 0.00001
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658 0.00001
NM_001191061.2(SLC25A22):c.135G>C (p.Val45=) rs914938263 0.00001
NM_001191061.2(SLC25A22):c.141G>C (p.Thr47=) rs781681487 0.00001
NM_001191061.2(SLC25A22):c.146+20G>A rs533314464 0.00001
NM_001191061.2(SLC25A22):c.146+9G>A rs1205601942 0.00001
NM_001191061.2(SLC25A22):c.147-11C>T rs748509400 0.00001
NM_001191061.2(SLC25A22):c.147-12C>G rs1864692888 0.00001
NM_001191061.2(SLC25A22):c.165G>A (p.Lys55=) rs758155200 0.00001
NM_001191061.2(SLC25A22):c.20+19C>T rs1286759114 0.00001
NM_001191061.2(SLC25A22):c.203-15C>A rs371498993 0.00001
NM_001191061.2(SLC25A22):c.203-19C>T rs755909870 0.00001
NM_001191061.2(SLC25A22):c.21-11dup rs1252614436 0.00001
NM_001191061.2(SLC25A22):c.351G>A (p.Gln117=) rs377299330 0.00001
NM_001191061.2(SLC25A22):c.357C>T (p.Ile119=) rs748285057 0.00001
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=) rs746201051 0.00001
NM_001191061.2(SLC25A22):c.393G>A (p.Leu131=) rs1177053683 0.00001
NM_001191061.2(SLC25A22):c.412+8C>T rs760438511 0.00001
NM_001191061.2(SLC25A22):c.462G>T (p.Gly154=) rs955053926 0.00001
NM_001191061.2(SLC25A22):c.588-5C>A rs749545887 0.00001
NM_001191061.2(SLC25A22):c.591T>C (p.Asp197=) rs1006751984 0.00001
NM_001191061.2(SLC25A22):c.609G>A (p.Val203=) rs751993115 0.00001
NM_001191061.2(SLC25A22):c.63C>T (p.Ile21=) rs555824464 0.00001
NM_001191061.2(SLC25A22):c.669G>A (p.Ser223=) rs1393878147 0.00001
NM_001191061.2(SLC25A22):c.714C>T (p.Ala238=) rs762903578 0.00001
NM_001191061.2(SLC25A22):c.753G>A (p.Thr251=) rs752605716 0.00001
NM_001191061.2(SLC25A22):c.792C>T (p.Thr264=) rs772170781 0.00001
NM_001191061.2(SLC25A22):c.818+18C>T rs1259282620 0.00001
NM_001191061.2(SLC25A22):c.818+20G>C rs574960850 0.00001
NM_001191061.2(SLC25A22):c.819-6C>T rs1311947754 0.00001
NM_001191061.2(SLC25A22):c.846G>A (p.Ser282=) rs753804802 0.00001
NM_001191061.2(SLC25A22):c.853C>T (p.Leu285=) rs759256797 0.00001
NM_001191061.2(SLC25A22):c.861C>T (p.Gly287=) rs202218399 0.00001
NM_001191061.2(SLC25A22):c.87C>T (p.Ile29=) rs138185663 0.00001
NM_001191061.2(SLC25A22):c.945G>A (p.Leu315=) rs1179494187 0.00001
NM_001330260.2(SCN8A):c.1041C>T (p.Asn347=) rs763049043 0.00001
NM_001330260.2(SCN8A):c.1086A>G (p.Ala362=) rs774882730 0.00001
NM_001330260.2(SCN8A):c.1104C>A (p.Thr368=) rs371872378 0.00001
NM_001330260.2(SCN8A):c.1131A>G (p.Gln377=) rs750815202 0.00001
NM_001330260.2(SCN8A):c.1134+7A>G rs1941715420 0.00001
NM_001330260.2(SCN8A):c.1135-13T>C rs1057520363 0.00001
NM_001330260.2(SCN8A):c.1152G>C (p.Gly384=) rs759112194 0.00001
NM_001330260.2(SCN8A):c.1155A>G (p.Lys385=) rs764896192 0.00001
NM_001330260.2(SCN8A):c.1204C>T (p.Leu402=) rs1057522082 0.00001
NM_001330260.2(SCN8A):c.120C>T (p.Ala40=) rs145881860 0.00001
NM_001330260.2(SCN8A):c.1278A>G (p.Glu426=) rs749572965 0.00001
NM_001330260.2(SCN8A):c.1342-18C>T rs763911558 0.00001
NM_001330260.2(SCN8A):c.1342-8T>C rs371035550 0.00001
NM_001330260.2(SCN8A):c.1419C>T (p.Ser473=) rs747607755 0.00001
NM_001330260.2(SCN8A):c.1516G>A (p.Gly506Arg) rs758393038 0.00001
NM_001330260.2(SCN8A):c.1566T>C (p.Asp522=) rs768201816 0.00001
NM_001330260.2(SCN8A):c.1621T>G (p.Ser541Ala) rs753587420 0.00001
NM_001330260.2(SCN8A):c.1644C>T (p.Leu548=) rs1289888622 0.00001
NM_001330260.2(SCN8A):c.1666C>G (p.Leu556Val) rs773118948 0.00001
NM_001330260.2(SCN8A):c.1686G>A (p.Lys562=) rs764350935 0.00001
NM_001330260.2(SCN8A):c.1737C>T (p.Ser579=) rs770853019 0.00001
NM_001330260.2(SCN8A):c.1740G>A (p.Glu580=) rs776479136 0.00001
NM_001330260.2(SCN8A):c.1752G>A (p.Ala584=) rs775442359 0.00001
NM_001330260.2(SCN8A):c.1758C>T (p.Asp586=) rs553897060 0.00001
NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His) rs755358223 0.00001
NM_001330260.2(SCN8A):c.1810C>T (p.Pro604Ser) rs1285097368 0.00001
NM_001330260.2(SCN8A):c.1821C>G (p.Ala607=) rs1329004407 0.00001
NM_001330260.2(SCN8A):c.1830C>G (p.Arg610=) rs1178224820 0.00001
NM_001330260.2(SCN8A):c.1851C>T (p.Tyr617=) rs201848186 0.00001
NM_001330260.2(SCN8A):c.1908C>T (p.Ser636=) rs1053543226 0.00001
NM_001330260.2(SCN8A):c.1915C>T (p.Arg639Cys) rs368345284 0.00001
NM_001330260.2(SCN8A):c.1926G>A (p.Thr642=) rs768639779 0.00001
NM_001330260.2(SCN8A):c.1998+7A>C rs1420786793 0.00001
NM_001330260.2(SCN8A):c.2160G>A (p.Pro720=) rs967922373 0.00001
NM_001330260.2(SCN8A):c.2371-18C>T rs1034484677 0.00001
NM_001330260.2(SCN8A):c.2508C>T (p.Asp836=) rs772945312 0.00001
NM_001330260.2(SCN8A):c.2545-4T>G rs1175986621 0.00001
NM_001330260.2(SCN8A):c.2545-8_2545-7insC rs754698110 0.00001
NM_001330260.2(SCN8A):c.2565C>G (p.Ala855=) rs1267438332 0.00001
NM_001330260.2(SCN8A):c.261C>T (p.Tyr87=) rs1484586967 0.00001
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344 0.00001
NM_001330260.2(SCN8A):c.276+12G>A rs756447486 0.00001
NM_001330260.2(SCN8A):c.2928C>T (p.Leu976=) rs766935372 0.00001
NM_001330260.2(SCN8A):c.3045G>A (p.Val1015=) rs1357752989 0.00001
NM_001330260.2(SCN8A):c.3048C>T (p.His1016=) rs777076650 0.00001
NM_001330260.2(SCN8A):c.3084T>C (p.Ala1028=) rs772371811 0.00001
NM_001330260.2(SCN8A):c.3183G>A (p.Lys1061=) rs749118803 0.00001
NM_001330260.2(SCN8A):c.324C>T (p.Ala108=) rs146485624 0.00001
NM_001330260.2(SCN8A):c.3264C>T (p.Asn1088=) rs763620762 0.00001
NM_001330260.2(SCN8A):c.3266A>G (p.Asn1089Ser) rs774119406 0.00001
NM_001330260.2(SCN8A):c.327G>A (p.Thr109=) rs766693813 0.00001
NM_001330260.2(SCN8A):c.3327C>T (p.Asn1109=) rs1349215930 0.00001
NM_001330260.2(SCN8A):c.3435G>A (p.Glu1145=) rs771822630 0.00001
NM_001330260.2(SCN8A):c.3491-17T>C rs1463801833 0.00001
NM_001330260.2(SCN8A):c.3529G>A (p.Glu1177Lys) rs148742419 0.00001
NM_001330260.2(SCN8A):c.3640G>A (p.Ala1214Thr) rs769243993 0.00001
NM_001330260.2(SCN8A):c.3645+19T>G rs1057521948 0.00001
NM_001330260.2(SCN8A):c.3646-15C>T rs1942972612 0.00001
NM_001330260.2(SCN8A):c.3681C>T (p.Thr1227=) rs771709180 0.00001
NM_001330260.2(SCN8A):c.3686G>A (p.Arg1229His) rs1020998191 0.00001
NM_001330260.2(SCN8A):c.3708C>T (p.Asp1236=) rs1353166540 0.00001
NM_001330260.2(SCN8A):c.3738G>A (p.Glu1246=) rs376953145 0.00001
NM_001330260.2(SCN8A):c.3765C>T (p.Gly1255=) rs1478794416 0.00001
NM_001330260.2(SCN8A):c.3768C>T (p.Phe1256=) rs767706770 0.00001
NM_001330260.2(SCN8A):c.395+12G>A rs777843626 0.00001
NM_001330260.2(SCN8A):c.396-5T>C rs764928471 0.00001
NM_001330260.2(SCN8A):c.3999G>A (p.Val1333=) rs796053208 0.00001
NM_001330260.2(SCN8A):c.4056G>A (p.Lys1352=) rs1254764629 0.00001
NM_001330260.2(SCN8A):c.4203A>G (p.Ala1401=) rs1395201809 0.00001
NM_001330260.2(SCN8A):c.4218T>C (p.Leu1406=) rs768214178 0.00001
NM_001330260.2(SCN8A):c.4517G>A (p.Arg1506His) rs760096460 0.00001
NM_001330260.2(SCN8A):c.4524+9A>G rs1938217961 0.00001
NM_001330260.2(SCN8A):c.4542C>T (p.Ile1514=) rs370105734 0.00001
NM_001330260.2(SCN8A):c.4548T>C (p.Phe1516=) rs367943033 0.00001
NM_001330260.2(SCN8A):c.4563G>A (p.Gln1521=) rs1234397024 0.00001
NM_001330260.2(SCN8A):c.4593C>T (p.Leu1531=) rs371638930 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_001330260.2(SCN8A):c.4644G>A (p.Lys1548=) rs753193934 0.00001
NM_001330260.2(SCN8A):c.4656C>T (p.Asn1552=) rs1343879999 0.00001
NM_001330260.2(SCN8A):c.4743C>T (p.Phe1581=) rs919899554 0.00001
NM_001330260.2(SCN8A):c.4796-8C>T rs758151653 0.00001
NM_001330260.2(SCN8A):c.4806G>A (p.Leu1602=) rs777710912 0.00001
NM_001330260.2(SCN8A):c.4884G>A (p.Leu1628=) rs749428493 0.00001
NM_001330260.2(SCN8A):c.4899C>T (p.Gly1633=) rs762240754 0.00001
NM_001330260.2(SCN8A):c.492G>A (p.Thr164=) rs762641381 0.00001
NM_001330260.2(SCN8A):c.4968T>C (p.Leu1656=) rs371478132 0.00001
NM_001330260.2(SCN8A):c.4978C>T (p.Leu1660=) rs1938705333 0.00001
NM_001330260.2(SCN8A):c.5025T>C (p.Tyr1675=) rs1395464489 0.00001
NM_001330260.2(SCN8A):c.5034C>T (p.His1678=) rs533725421 0.00001
NM_001330260.2(SCN8A):c.510A>G (p.Thr170=) rs773697137 0.00001
NM_001330260.2(SCN8A):c.5118T>C (p.Gly1706=) rs776753024 0.00001
NM_001330260.2(SCN8A):c.5220A>G (p.Ser1740=) rs770554062 0.00001
NM_001330260.2(SCN8A):c.5304C>T (p.Asn1768=) rs201212878 0.00001
NM_001330260.2(SCN8A):c.5385C>T (p.Phe1795=) rs748215769 0.00001
NM_001330260.2(SCN8A):c.5391C>T (p.Pro1797=) rs372155701 0.00001
NM_001330260.2(SCN8A):c.5628C>T (p.Ser1876=) rs200910225 0.00001
NM_001330260.2(SCN8A):c.564C>G (p.Thr188=) rs886049581 0.00001
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His) rs1565934531 0.00001
NM_001330260.2(SCN8A):c.5760A>C (p.Thr1920=) rs781617696 0.00001
NM_001330260.2(SCN8A):c.5760A>G (p.Thr1920=) rs781617696 0.00001
NM_001330260.2(SCN8A):c.579A>G (p.Pro193=) rs755900174 0.00001
NM_001330260.2(SCN8A):c.5835G>A (p.Pro1945=) rs776428412 0.00001
NM_001330260.2(SCN8A):c.5847T>C (p.Ser1949=) rs751637843 0.00001
NM_001330260.2(SCN8A):c.5883A>G (p.Ala1961=) rs750830277 0.00001
NM_001330260.2(SCN8A):c.615-251G>A rs1356416543 0.00001
NM_001330260.2(SCN8A):c.639G>C (p.Leu213=) rs759294229 0.00001
NM_001330260.2(SCN8A):c.666C>T (p.Phe222=) rs1941465183 0.00001
NM_001330260.2(SCN8A):c.693C>T (p.Ile231=) rs1190792467 0.00001
NM_001330260.2(SCN8A):c.707-20C>T rs541348760 0.00001
NM_001330260.2(SCN8A):c.726T>A (p.Gly242=) rs779319824 0.00001
NM_001330260.2(SCN8A):c.768C>A (p.Ile256=) rs1231477580 0.00001
NM_001330260.2(SCN8A):c.81G>A (p.Arg27=) rs748777974 0.00001
NM_001330260.2(SCN8A):c.903T>C (p.Asp301=) rs759557451 0.00001
NM_001330260.2(SCN8A):c.929-4C>G rs771227940 0.00001
NM_001330260.2(SCN8A):c.975G>A (p.Gly325=) rs765299562 0.00001
NM_001330260.2(SCN8A):c.992+8G>A rs764584884 0.00001
NM_003165.6(STXBP1):c.1722T>A (p.Thr574=) rs377721017 0.00001
NM_006030.4(CACNA2D2):c.1017G>A (p.Val339=) rs1287499685 0.00001
NM_006030.4(CACNA2D2):c.1092G>A (p.Val364=) rs970992832 0.00001
NM_006030.4(CACNA2D2):c.1119C>T (p.Ala373=) rs758258398 0.00001
NM_006030.4(CACNA2D2):c.1153-11A>G rs775830811 0.00001
NM_006030.4(CACNA2D2):c.1153-7C>T rs759901921 0.00001
NM_006030.4(CACNA2D2):c.1209T>C (p.Gly403=) rs777903252 0.00001
NM_006030.4(CACNA2D2):c.1260+15A>G rs587611382 0.00001
NM_006030.4(CACNA2D2):c.1339+11dup rs765136571 0.00001
NM_006030.4(CACNA2D2):c.1340-11T>G rs1306572448 0.00001
NM_006030.4(CACNA2D2):c.1340-13C>T rs1705101528 0.00001
NM_006030.4(CACNA2D2):c.1461C>T (p.Asn487=) rs1243314836 0.00001
NM_006030.4(CACNA2D2):c.1479+12G>A rs1705077708 0.00001
NM_006030.4(CACNA2D2):c.1480-12C>T rs746694181 0.00001
NM_006030.4(CACNA2D2):c.1480-15T>A rs1287814130 0.00001
NM_006030.4(CACNA2D2):c.1480-4T>A rs1444796440 0.00001
NM_006030.4(CACNA2D2):c.1626+13C>G rs754717802 0.00001
NM_006030.4(CACNA2D2):c.1662G>C (p.Leu554=) rs780781699 0.00001
NM_006030.4(CACNA2D2):c.1671C>T (p.Tyr557=) rs370651951 0.00001
NM_006030.4(CACNA2D2):c.1686C>T (p.Pro562=) rs757365634 0.00001
NM_006030.4(CACNA2D2):c.171C>T (p.Pro57=) rs1345972361 0.00001
NM_006030.4(CACNA2D2):c.1774-7C>T rs756092015 0.00001
NM_006030.4(CACNA2D2):c.1824G>A (p.Thr608=) rs774217388 0.00001
NM_006030.4(CACNA2D2):c.1863G>A (p.Val621=) rs768767245 0.00001
NM_006030.4(CACNA2D2):c.1875C>T (p.Tyr625=) rs1480824096 0.00001
NM_006030.4(CACNA2D2):c.1908-9C>A rs746054553 0.00001
NM_006030.4(CACNA2D2):c.1962T>C (p.Ser654=) rs774570192 0.00001
NM_006030.4(CACNA2D2):c.1984+12G>A rs1278037125 0.00001
NM_006030.4(CACNA2D2):c.2022A>G (p.Glu674=) rs777456090 0.00001
NM_006030.4(CACNA2D2):c.206+13G>C rs148980752 0.00001
NM_006030.4(CACNA2D2):c.2103T>C (p.Phe701=) rs914853499 0.00001
NM_006030.4(CACNA2D2):c.2144-10C>A rs779101863 0.00001
NM_006030.4(CACNA2D2):c.2154C>T (p.Phe718=) rs753131879 0.00001
NM_006030.4(CACNA2D2):c.2166C>T (p.Asn722=) rs760007972 0.00001
NM_006030.4(CACNA2D2):c.21C>T (p.Thr7=) rs946039787 0.00001
NM_006030.4(CACNA2D2):c.2234+10A>G rs1417666737 0.00001
NM_006030.4(CACNA2D2):c.2250C>T (p.Ala750=) rs1183901180 0.00001
NM_006030.4(CACNA2D2):c.2256C>T (p.Phe752=) rs921568575 0.00001
NM_006030.4(CACNA2D2):c.2298-4C>T rs199818023 0.00001
NM_006030.4(CACNA2D2):c.2352C>T (p.Arg784=) rs1202464827 0.00001
NM_006030.4(CACNA2D2):c.2370C>T (p.His790=) rs907103784 0.00001
NM_006030.4(CACNA2D2):c.2401+16G>A rs1415871993 0.00001
NM_006030.4(CACNA2D2):c.2580G>A (p.Gln860=) rs778641336 0.00001
NM_006030.4(CACNA2D2):c.2710-9C>T rs772210871 0.00001
NM_006030.4(CACNA2D2):c.2775C>T (p.Tyr925=) rs762405686 0.00001
NM_006030.4(CACNA2D2):c.2862+12G>A rs369721045 0.00001
NM_006030.4(CACNA2D2):c.288+8C>T rs368415357 0.00001
NM_006030.4(CACNA2D2):c.288+9G>A rs574453980 0.00001
NM_006030.4(CACNA2D2):c.289-7C>T rs768476453 0.00001
NM_006030.4(CACNA2D2):c.2922G>A (p.Leu974=) rs964599004 0.00001
NM_006030.4(CACNA2D2):c.2971+10G>A rs376297552 0.00001
NM_006030.4(CACNA2D2):c.2972-4G>A rs780845562 0.00001
NM_006030.4(CACNA2D2):c.3027A>G (p.Lys1009=) rs368065286 0.00001
NM_006030.4(CACNA2D2):c.3060C>T (p.Ala1020=) rs201154283 0.00001
NM_006030.4(CACNA2D2):c.3078C>T (p.Ile1026=) rs1354397541 0.00001
NM_006030.4(CACNA2D2):c.3098+16C>T rs773527612 0.00001
NM_006030.4(CACNA2D2):c.3099G>A (p.Arg1033=) rs769536562 0.00001
NM_006030.4(CACNA2D2):c.3150C>T (p.Ala1050=) rs1402064339 0.00001
NM_006030.4(CACNA2D2):c.3187C>T (p.Leu1063=) rs761547938 0.00001
NM_006030.4(CACNA2D2):c.3204G>T (p.Thr1068=) rs746041404 0.00001
NM_006030.4(CACNA2D2):c.3208+10C>T rs1163689982 0.00001
NM_006030.4(CACNA2D2):c.3209-16C>A rs1368208674 0.00001
NM_006030.4(CACNA2D2):c.3209-4C>T rs1060504834 0.00001
NM_006030.4(CACNA2D2):c.3209-7T>C rs374302648 0.00001
NM_006030.4(CACNA2D2):c.3292-6C>T rs1409979233 0.00001
NM_006030.4(CACNA2D2):c.3292-8C>A rs914125444 0.00001
NM_006030.4(CACNA2D2):c.3292-9dup rs762577808 0.00001
NM_006030.4(CACNA2D2):c.3300C>T (p.Thr1100=) rs762013139 0.00001
NM_006030.4(CACNA2D2):c.3336G>C (p.Ser1112=) rs777164486 0.00001
NM_006030.4(CACNA2D2):c.3372C>T (p.Leu1124=) rs961872296 0.00001
NM_006030.4(CACNA2D2):c.3373C>T (p.Leu1125=) rs1017724866 0.00001
NM_006030.4(CACNA2D2):c.3378C>T (p.Gly1126=) rs1348193937 0.00001
NM_006030.4(CACNA2D2):c.3417C>T (p.Ala1139=) rs1704116245 0.00001
NM_006030.4(CACNA2D2):c.3423C>A (p.Arg1141=) rs1301099289 0.00001
NM_006030.4(CACNA2D2):c.390G>A (p.Lys130=) rs531043018 0.00001
NM_006030.4(CACNA2D2):c.405+17G>C rs867840653 0.00001
NM_006030.4(CACNA2D2):c.474C>T (p.Asp158=) rs1008127042 0.00001
NM_006030.4(CACNA2D2):c.477C>T (p.Ile159=) rs182154151 0.00001
NM_006030.4(CACNA2D2):c.501C>T (p.Asp167=) rs778207640 0.00001
NM_006030.4(CACNA2D2):c.510+8C>A rs1262220342 0.00001
NM_006030.4(CACNA2D2):c.652+10C>G rs371427872 0.00001
NM_006030.4(CACNA2D2):c.652+19C>T rs749044638 0.00001
NM_006030.4(CACNA2D2):c.653-13C>T rs769204041 0.00001
NM_006030.4(CACNA2D2):c.702G>A (p.Val234=) rs752498975 0.00001
NM_006030.4(CACNA2D2):c.784+10A>G rs781141511 0.00001
NM_006030.4(CACNA2D2):c.784+9C>T rs371183857 0.00001
NM_006030.4(CACNA2D2):c.972T>C (p.Asp324=) rs1386682894 0.00001
NM_006030.4(CACNA2D2):c.999C>T (p.Asn333=) rs755624253 0.00001
NM_006279.5(ST3GAL3):c.1038+13G>A rs1478256246 0.00001
NM_006279.5(ST3GAL3):c.1038+20G>T rs201919243 0.00001
NM_006279.5(ST3GAL3):c.1038+8G>C rs1439489205 0.00001
NM_006279.5(ST3GAL3):c.1038+9C>T rs757031483 0.00001
NM_006279.5(ST3GAL3):c.1068A>G (p.Lys356=) rs1015506821 0.00001
NM_006279.5(ST3GAL3):c.1098C>T (p.Arg366=) rs373494209 0.00001
NM_006279.5(ST3GAL3):c.118+16C>T rs1233749343 0.00001
NM_006279.5(ST3GAL3):c.166+10C>T rs746574834 0.00001
NM_006279.5(ST3GAL3):c.166+7A>G rs758114317 0.00001
NM_006279.5(ST3GAL3):c.209+14G>T rs747853948 0.00001
NM_006279.5(ST3GAL3):c.228C>A (p.Thr76=) rs1172211161 0.00001
NM_006279.5(ST3GAL3):c.234C>T (p.Tyr78=) rs550614361 0.00001
NM_006279.5(ST3GAL3):c.273T>G (p.Ala91=) rs745979516 0.00001
NM_006279.5(ST3GAL3):c.288G>A (p.Thr96=) rs763879713 0.00001
NM_006279.5(ST3GAL3):c.303-9A>G rs762536905 0.00001
NM_006279.5(ST3GAL3):c.321C>A (p.Pro107=) rs773814511 0.00001
NM_006279.5(ST3GAL3):c.375G>A (p.Pro125=) rs747912225 0.00001
NM_006279.5(ST3GAL3):c.397+20C>G rs1180406652 0.00001
NM_006279.5(ST3GAL3):c.398-6C>T rs1432993761 0.00001
NM_006279.5(ST3GAL3):c.398-9T>C rs1168770898 0.00001
NM_006279.5(ST3GAL3):c.486C>T (p.Ile162=) rs764149445 0.00001
NM_006279.5(ST3GAL3):c.609G>A (p.Thr203=) rs2077939158 0.00001
NM_006279.5(ST3GAL3):c.744+12T>C rs200985052 0.00001
NM_006279.5(ST3GAL3):c.745-19G>A rs756374156 0.00001
NM_006279.5(ST3GAL3):c.87G>A (p.Lys29=) rs138684243 0.00001
NM_006279.5(ST3GAL3):c.892-10C>T rs545265264 0.00001
NM_006279.5(ST3GAL3):c.931C>T (p.Leu311=) rs375217506 0.00001
NM_006279.5(ST3GAL3):c.957C>T (p.Val319=) rs200118060 0.00001
NM_006279.5(ST3GAL3):c.997C>T (p.Leu333=) rs2082913376 0.00001
NM_020988.3(GNAO1):c.1011C>T (p.Asp337=) rs375683292 0.00001
NM_020988.3(GNAO1):c.119-17T>C rs759192540 0.00001
NM_020988.3(GNAO1):c.119-5A>G rs775212759 0.00001
NM_020988.3(GNAO1):c.132A>G (p.Ser44=) rs1461948245 0.00001
NM_020988.3(GNAO1):c.161+12T>G rs761912841 0.00001
NM_020988.3(GNAO1):c.161+13G>T rs767965127 0.00001
NM_020988.3(GNAO1):c.161+9C>T rs751608846 0.00001
NM_020988.3(GNAO1):c.257G>A (p.Arg86Gln) rs1301302019 0.00001
NM_020988.3(GNAO1):c.267C>T (p.Asp89=) rs201728736 0.00001
NM_020988.3(GNAO1):c.333G>A (p.Val111=) rs61758988 0.00001
NM_020988.3(GNAO1):c.495C>T (p.Ala165=) rs745503611 0.00001
NM_020988.3(GNAO1):c.549T>G (p.Thr183=) rs767417261 0.00001
NM_020988.3(GNAO1):c.54G>A (p.Ala18=) rs1288429932 0.00001
NM_020988.3(GNAO1):c.593+17C>A rs778086425 0.00001
NM_020988.3(GNAO1):c.616C>A (p.Arg206=) rs2037743862 0.00001
NM_020988.3(GNAO1):c.66C>T (p.Asn22=) rs1215228286 0.00001
NM_020988.3(GNAO1):c.678C>T (p.Val226=) rs760476691 0.00001
NM_020988.3(GNAO1):c.681G>A (p.Ala227=) rs770769352 0.00001
NM_020988.3(GNAO1):c.714C>T (p.Asp238=) rs752775959 0.00001
NM_020988.3(GNAO1):c.724-5C>T rs529454065 0.00001
NM_020988.3(GNAO1):c.735C>T (p.His245=) rs201930720 0.00001
NM_020988.3(GNAO1):c.753C>T (p.Phe251=) rs755484788 0.00001
NM_020988.3(GNAO1):c.783C>T (p.Ile261=) rs752997228 0.00001
NM_020988.3(GNAO1):c.877+20G>A rs1222479179 0.00001
NM_020988.3(GNAO1):c.878-10C>G rs374412223 0.00001
NM_021072.4(HCN1):c.1065C>T (p.His355=) rs200829129 0.00001
NM_021072.4(HCN1):c.1113C>T (p.Asp371=) rs761981654 0.00001
NM_021072.4(HCN1):c.1152C>A (p.Thr384=) rs764282200 0.00001
NM_021072.4(HCN1):c.1209G>A (p.Ser403=) rs759480243 0.00001
NM_021072.4(HCN1):c.1218G>A (p.Gln406=) rs1384214329 0.00001
NM_021072.4(HCN1):c.1305T>C (p.Tyr435=) rs1342395210 0.00001
NM_021072.4(HCN1):c.1320A>G (p.Gln440=) rs375902844 0.00001
NM_021072.4(HCN1):c.1338G>A (p.Glu446=) rs878855067 0.00001
NM_021072.4(HCN1):c.1343A>G (p.Asn448Ser) rs752944351 0.00001
NM_021072.4(HCN1):c.1378-4T>C rs767538006 0.00001
NM_021072.4(HCN1):c.1378-9C>T rs1442110194 0.00001
NM_021072.4(HCN1):c.1551C>T (p.His517=) rs1007416378 0.00001
NM_021072.4(HCN1):c.1578C>A (p.Ser526=) rs1478297290 0.00001
NM_021072.4(HCN1):c.1618+14A>T rs761070627 0.00001
NM_021072.4(HCN1):c.1619-17G>C rs777720710 0.00001
NM_021072.4(HCN1):c.168C>T (p.Ser56=) rs996210990 0.00001
NM_021072.4(HCN1):c.1783+10T>C rs776948676 0.00001
NM_021072.4(HCN1):c.1783+16A>C rs770876235 0.00001
NM_021072.4(HCN1):c.1980G>A (p.Met660Ile) rs1335934380 0.00001
NM_021072.4(HCN1):c.2030A>G (p.Asn677Ser) rs1199032164 0.00001
NM_021072.4(HCN1):c.2077A>G (p.Ile693Val) rs377359279 0.00001
NM_021072.4(HCN1):c.2083T>G (p.Ser695Ala) rs750463999 0.00001
NM_021072.4(HCN1):c.2247G>A (p.Gln749=) rs1744762588 0.00001
NM_021072.4(HCN1):c.2259G>A (p.Pro753=) rs752434266 0.00001
NM_021072.4(HCN1):c.2310C>T (p.Ser770=) rs749727167 0.00001
NM_021072.4(HCN1):c.2346A>G (p.Glu782=) rs1338055183 0.00001
NM_021072.4(HCN1):c.2353C>T (p.Pro785Ser) rs778039525 0.00001
NM_021072.4(HCN1):c.2364C>T (p.Ala788=) rs948061807 0.00001
NM_021072.4(HCN1):c.2427C>T (p.Gly809=) rs774013410 0.00001
NM_021072.4(HCN1):c.2430G>A (p.Glu810=) rs1744755026 0.00001
NM_021072.4(HCN1):c.2462C>T (p.Ala821Val) rs371602396 0.00001
NM_021072.4(HCN1):c.2475G>C (p.Thr825=) rs753637793 0.00001
NM_021072.4(HCN1):c.2487A>G (p.Ala829=) rs1744753344 0.00001
NM_021072.4(HCN1):c.2514C>G (p.Arg838=) rs1561078915 0.00001
NM_021072.4(HCN1):c.2581C>A (p.Pro861Thr) rs756753787 0.00001
NM_021072.4(HCN1):c.2604A>G (p.Pro868=) rs1362126619 0.00001
NM_021072.4(HCN1):c.262C>G (p.Arg88Gly) rs774375241 0.00001
NM_021072.4(HCN1):c.267G>A (p.Arg89=) rs775226551 0.00001
NM_021072.4(HCN1):c.270G>A (p.Gln90=) rs886043090 0.00001
NM_021072.4(HCN1):c.348C>T (p.Ser116=) rs767232327 0.00001
NM_021072.4(HCN1):c.360G>A (p.Val120=) rs751582076 0.00001
NM_021072.4(HCN1):c.425+13G>C rs1451530513 0.00001
NM_021072.4(HCN1):c.425+17G>C rs774888673 0.00001
NM_021072.4(HCN1):c.495A>G (p.Thr165=) rs763384509 0.00001
NM_021072.4(HCN1):c.537T>C (p.Asn179=) rs933620684 0.00001
NM_021072.4(HCN1):c.546A>G (p.Ser182=) rs769798851 0.00001
NM_021072.4(HCN1):c.597C>T (p.Val199=) rs1051820929 0.00001
NM_021072.4(HCN1):c.69C>T (p.Ala23=) rs1060503835 0.00001
NM_021072.4(HCN1):c.702T>C (p.Tyr234=) rs370083488 0.00001
NM_021072.4(HCN1):c.711T>C (p.Leu237=) rs1381111783 0.00001
NM_021072.4(HCN1):c.78C>T (p.Ser26=) rs1245838252 0.00001
NM_021072.4(HCN1):c.864A>G (p.Thr288=) rs760071472 0.00001
NM_021072.4(HCN1):c.90G>C (p.Ala30=) rs1290982240 0.00001
NM_021072.4(HCN1):c.921C>T (p.Leu307=) rs1385704339 0.00001
NM_021072.4(HCN1):c.987C>T (p.Cys329=) rs201361412 0.00001
NM_139318.5(KCNH5):c.1032T>C (p.Tyr344=) rs371163377 0.00001
NM_139318.5(KCNH5):c.1047C>T (p.Leu349=) rs377667112 0.00001
NM_139318.5(KCNH5):c.1110C>T (p.Ile370=) rs758631477 0.00001
NM_139318.5(KCNH5):c.111T>C (p.Asp37=) rs888168430 0.00001
NM_139318.5(KCNH5):c.1272C>T (p.Tyr424=) rs115182827 0.00001
NM_139318.5(KCNH5):c.1302A>C (p.Gly434=) rs754439480 0.00001
NM_139318.5(KCNH5):c.1453C>T (p.Leu485=) rs554047274 0.00001
NM_139318.5(KCNH5):c.147A>G (p.Lys49=) rs752798442 0.00001
NM_139318.5(KCNH5):c.1569+14T>C rs1324927158 0.00001
NM_139318.5(KCNH5):c.1569+7G>T rs771120157 0.00001
NM_139318.5(KCNH5):c.1625G>A (p.Arg542Gln) rs762196737 0.00001
NM_139318.5(KCNH5):c.1688C>T (p.Ala563Val) rs1261631537 0.00001
NM_139318.5(KCNH5):c.1812G>A (p.Val604=) rs764572114 0.00001
NM_139318.5(KCNH5):c.1881T>C (p.Cys627=) rs145927509 0.00001
NM_139318.5(KCNH5):c.1924A>G (p.Lys642Glu) rs1457212190 0.00001
NM_139318.5(KCNH5):c.198-4C>T rs967461521 0.00001
NM_139318.5(KCNH5):c.2019+13G>C rs1441813338 0.00001
NM_139318.5(KCNH5):c.2019+9T>C rs1207646695 0.00001
NM_139318.5(KCNH5):c.2020-10C>T rs755413247 0.00001
NM_139318.5(KCNH5):c.2064G>A (p.Glu688=) rs766131657 0.00001
NM_139318.5(KCNH5):c.2075A>G (p.Gln692Arg) rs372088477 0.00001
NM_139318.5(KCNH5):c.2253C>T (p.Ser751=) rs772353105 0.00001
NM_139318.5(KCNH5):c.2322T>C (p.Leu774=) rs1479602373 0.00001
NM_139318.5(KCNH5):c.2360A>G (p.Asn787Ser) rs745444217 0.00001
NM_139318.5(KCNH5):c.2362G>A (p.Gly788Ser) rs369811431 0.00001
NM_139318.5(KCNH5):c.2366G>T (p.Gly789Val) rs767520778 0.00001
NM_139318.5(KCNH5):c.2421T>C (p.Asn807=) rs746564507 0.00001
NM_139318.5(KCNH5):c.2667C>T (p.Pro889=) rs1595587325 0.00001
NM_139318.5(KCNH5):c.2730G>A (p.Leu910=) rs764788193 0.00001
NM_139318.5(KCNH5):c.2745C>T (p.His915=) rs138093802 0.00001
NM_139318.5(KCNH5):c.2838C>T (p.Ser946=) rs763905666 0.00001
NM_139318.5(KCNH5):c.305-6T>C rs772485576 0.00001
NM_139318.5(KCNH5):c.429A>G (p.Thr143=) rs141293467 0.00001
NM_139318.5(KCNH5):c.522G>C (p.Val174=) rs781693873 0.00001
NM_139318.5(KCNH5):c.550-14T>A rs568562749 0.00001
NM_139318.5(KCNH5):c.550-17C>A rs1422234778 0.00001
NM_139318.5(KCNH5):c.606G>A (p.Thr202=) rs961145593 0.00001
NM_139318.5(KCNH5):c.73+12T>G rs369384497 0.00001
NM_139318.5(KCNH5):c.756T>C (p.Ser252=) rs754025425 0.00001
NM_139318.5(KCNH5):c.936G>T (p.Val312=) rs768010526 0.00001
NM_139318.5(KCNH5):c.960C>T (p.Phe320=) rs751951284 0.00001
NM_172107.4(KCNQ2):c.1002C>T (p.Asn334=) rs372442974 0.00001
NM_172107.4(KCNQ2):c.1005G>A (p.Pro335=) rs760143489 0.00001
NM_172107.4(KCNQ2):c.1041C>T (p.Tyr347=) rs770904422 0.00001
NM_172107.4(KCNQ2):c.1098G>A (p.Thr366=) rs758961686 0.00001
NM_172107.4(KCNQ2):c.1104C>T (p.Thr368=) rs1292482268 0.00001
NM_172107.4(KCNQ2):c.1119-19G>A rs1428713160 0.00001
NM_172107.4(KCNQ2):c.1119-6T>C rs1022260777 0.00001
NM_172107.4(KCNQ2):c.1119-7T>C rs953495853 0.00001
NM_172107.4(KCNQ2):c.1194G>A (p.Lys398=) rs763988707 0.00001
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=) rs756007198 0.00001
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961 0.00001
NM_172107.4(KCNQ2):c.1218-13C>T rs1177200397 0.00001
NM_172107.4(KCNQ2):c.1218-18T>G rs908502131 0.00001
NM_172107.4(KCNQ2):c.1230G>A (p.Pro410=) rs767038163 0.00001
NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu) rs754682495 0.00001
NM_172107.4(KCNQ2):c.1248-14C>T rs567439188 0.00001
NM_172107.4(KCNQ2):c.1248-4C>G rs772465626 0.00001
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886 0.00001
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=) rs951436020 0.00001
NM_172107.4(KCNQ2):c.1368G>A (p.Gly456=) rs748785128 0.00001
NM_172107.4(KCNQ2):c.1413G>A (p.Gln471=) rs6122117 0.00001
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=) rs780293757 0.00001
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636 0.00001
NM_172107.4(KCNQ2):c.1526-20G>A rs756285814 0.00001
NM_172107.4(KCNQ2):c.1526-6C>T rs763503121 0.00001
NM_172107.4(KCNQ2):c.1631+18C>T rs773276077 0.00001
NM_172107.4(KCNQ2):c.1631+8C>T rs1406473226 0.00001
NM_172107.4(KCNQ2):c.1632-7C>T rs779543926 0.00001
NM_172107.4(KCNQ2):c.1644C>T (p.Phe548=) rs1241388377 0.00001
NM_172107.4(KCNQ2):c.1763+20G>A rs774318503 0.00001
NM_172107.4(KCNQ2):c.1800G>A (p.Thr600=) rs587780368 0.00001
NM_172107.4(KCNQ2):c.1887+13G>A rs1013321077 0.00001
NM_172107.4(KCNQ2):c.1888-18C>T rs745600966 0.00001
NM_172107.4(KCNQ2):c.1908G>A (p.Lys636=) rs1319833450 0.00001
NM_172107.4(KCNQ2):c.1917C>T (p.Phe639=) rs1568862506 0.00001
NM_172107.4(KCNQ2):c.1929C>T (p.Ile643=) rs760044575 0.00001
NM_172107.4(KCNQ2):c.1956G>A (p.Pro652=) rs749070370 0.00001
NM_172107.4(KCNQ2):c.1959A>G (p.Thr653=) rs563758575 0.00001
NM_172107.4(KCNQ2):c.1977T>C (p.Phe659=) rs530636866 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172107.4(KCNQ2):c.204C>A (p.Pro68=) rs750320231 0.00001
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302 0.00001
NM_172107.4(KCNQ2):c.2109G>A (p.Ala703=) rs771679143 0.00001
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=) rs754279476 0.00001
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=) rs777993694 0.00001
NM_172107.4(KCNQ2):c.2133G>A (p.Gln711=) rs946287354 0.00001
NM_172107.4(KCNQ2):c.2139G>A (p.Pro713=) rs765186960 0.00001
NM_172107.4(KCNQ2):c.2172G>A (p.Pro724=) rs368268958 0.00001
NM_172107.4(KCNQ2):c.2184C>T (p.His728=) rs745409657 0.00001
NM_172107.4(KCNQ2):c.2229G>A (p.Pro743=) rs1481212168 0.00001
NM_172107.4(KCNQ2):c.222C>T (p.Tyr74=) rs796052613 0.00001
NM_172107.4(KCNQ2):c.2232G>A (p.Pro744=) rs547655324 0.00001
NM_172107.4(KCNQ2):c.225C>G (p.Arg75=) rs2082234438 0.00001
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924 0.00001
NM_172107.4(KCNQ2):c.2298G>C (p.Leu766=) rs370078678 0.00001
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=) rs903555499 0.00001
NM_172107.4(KCNQ2):c.2352C>T (p.Ser784=) rs752646626 0.00001
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397 0.00001
NM_172107.4(KCNQ2):c.2376C>T (p.Ser792=) rs765593192 0.00001
NM_172107.4(KCNQ2):c.240C>T (p.Phe80=) rs961712229 0.00001
NM_172107.4(KCNQ2):c.2421C>T (p.Ile807=) rs779048131 0.00001
NM_172107.4(KCNQ2):c.2463C>T (p.Tyr821=) rs781323405 0.00001
NM_172107.4(KCNQ2):c.2466G>A (p.Ala822=) rs779798310 0.00001
NM_172107.4(KCNQ2):c.246C>T (p.Tyr82=) rs2082233877 0.00001
NM_172107.4(KCNQ2):c.249C>T (p.Asn83=) rs1568986197 0.00001
NM_172107.4(KCNQ2):c.2565G>A (p.Ser855=) rs951286775 0.00001
NM_172107.4(KCNQ2):c.297-19G>A rs755735309 0.00001
NM_172107.4(KCNQ2):c.321C>T (p.Leu107=) rs757187562 0.00001
NM_172107.4(KCNQ2):c.348G>A (p.Lys116=) rs199860378 0.00001
NM_172107.4(KCNQ2):c.385C>T (p.Leu129=) rs1381622639 0.00001
NM_172107.4(KCNQ2):c.387+10G>A rs371918220 0.00001
NM_172107.4(KCNQ2):c.387+9C>T rs751969586 0.00001
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=) rs762713462 0.00001
NM_172107.4(KCNQ2):c.417G>A (p.Val139=) rs769767997 0.00001
NM_172107.4(KCNQ2):c.444A>G (p.Ala148=) rs1365973227 0.00001
NM_172107.4(KCNQ2):c.514+19G>A rs143112890 0.00001
NM_172107.4(KCNQ2):c.515-13G>A rs752770712 0.00001
NM_172107.4(KCNQ2):c.515-15A>G rs778229459 0.00001
NM_172107.4(KCNQ2):c.588G>A (p.Ala196=) rs771376349 0.00001
NM_172107.4(KCNQ2):c.607C>T (p.Leu203=) rs1057522309 0.00001
NM_172107.4(KCNQ2):c.642G>A (p.Arg214=) rs778319589 0.00001
NM_172107.4(KCNQ2):c.651C>T (p.Thr217=) rs1386799944 0.00001
NM_172107.4(KCNQ2):c.684C>T (p.His228=) rs118192204 0.00001
NM_172107.4(KCNQ2):c.729C>T (p.Leu243=) rs755940771 0.00001
NM_172107.4(KCNQ2):c.741G>A (p.Ser247=) rs184792288 0.00001
NM_172107.4(KCNQ2):c.759A>T (p.Ala253=) rs1169384661 0.00001
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=) rs772452810 0.00001
NM_172107.4(KCNQ2):c.816+11G>A rs779253290 0.00001
NM_172107.4(KCNQ2):c.816+9T>C rs772235691 0.00001
NM_172107.4(KCNQ2):c.817-11C>T rs555632610 0.00001
NM_172107.4(KCNQ2):c.817-5C>T rs774780027 0.00001
NM_172107.4(KCNQ2):c.819C>T (p.Ile273=) rs771282785 0.00001
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=) rs377485599 0.00001
NM_172107.4(KCNQ2):c.915C>T (p.Phe305=) rs775918190 0.00001
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=) rs539406802 0.00001
NM_172107.4(KCNQ2):c.928-16C>T rs112907728 0.00001
NM_173728.4(ARHGEF15):c.1048+9C>G rs1460173209 0.00001
NM_173728.4(ARHGEF15):c.1049-20G>A rs767643392 0.00001
NM_173728.4(ARHGEF15):c.1209A>G (p.Gln403=) rs760719728 0.00001
NM_173728.4(ARHGEF15):c.1422-9T>A rs749293171 0.00001
NM_173728.4(ARHGEF15):c.1641C>G (p.Leu547=) rs1012657671 0.00001
NM_173728.4(ARHGEF15):c.1704+15T>C rs569102838 0.00001
NM_173728.4(ARHGEF15):c.1711C>T (p.Leu571=) rs751706310 0.00001
NM_173728.4(ARHGEF15):c.1716C>T (p.Arg572=) rs775581443 0.00001
NM_173728.4(ARHGEF15):c.1873-4G>A rs755612208 0.00001
NM_173728.4(ARHGEF15):c.1900C>T (p.Arg634Cys) rs567896801 0.00001
NM_173728.4(ARHGEF15):c.2022T>G (p.Thr674=) rs761280960 0.00001
NM_173728.4(ARHGEF15):c.2070C>T (p.Arg690=) rs1215167202 0.00001
NM_173728.4(ARHGEF15):c.2370T>C (p.Pro790=) rs1010654697 0.00001
NM_173728.4(ARHGEF15):c.2375-14C>T rs1452269966 0.00001
NM_173728.4(ARHGEF15):c.2505C>T (p.Thr835=) rs907308477 0.00001
NM_173728.4(ARHGEF15):c.294C>T (p.Pro98=) rs781063555 0.00001
NM_173728.4(ARHGEF15):c.36C>G (p.Pro12=) rs748986833 0.00001
NM_173728.4(ARHGEF15):c.601+16G>T rs761415894 0.00001
NM_173728.4(ARHGEF15):c.602-17C>T rs751895919 0.00001
NM_173728.4(ARHGEF15):c.934+12G>C rs748426242 0.00001
NM_173728.4(ARHGEF15):c.990-16C>T rs368655131 0.00001
NC_000002.11:g.(?_166847793)_(166847921_?)dup
NC_000005.9:g.(?_45645267)_(45696195_?)dup
NC_000005.9:g.(?_45645277)_(45696195_?)dup
NC_000005.9:g.(?_45695751)_(45696195_?)dup
NC_000009.11:g.(?_130438063)_(130446756_?)dup
NC_000009.11:g.(?_131386587)_(131399326_?)dup
NC_000009.11:g.(?_131386597)_(131399316_?)dup
NC_000009.12:g.(?_127668060)_(127684497_?)dup
NC_000020.10:g.62046496_62046497insGACAAACA
NM_001032221.6(STXBP1):c.1029+19A>T
NM_001032221.6(STXBP1):c.1029+8A>G rs2131497514
NM_001032221.6(STXBP1):c.1030-19C>G
NM_001032221.6(STXBP1):c.1030-5C>G
NM_001032221.6(STXBP1):c.1086A>G (p.Val362=)
NM_001032221.6(STXBP1):c.1098C>T (p.Cys366=) rs2131501402
NM_001032221.6(STXBP1):c.1104G>A (p.Val368=)
NM_001032221.6(STXBP1):c.1110+11C>T
NM_001032221.6(STXBP1):c.1110+14_1110+17del
NM_001032221.6(STXBP1):c.1110+18C>T
NM_001032221.6(STXBP1):c.1111-11G>A
NM_001032221.6(STXBP1):c.1111-15G>C
NM_001032221.6(STXBP1):c.1111-7T>C
NM_001032221.6(STXBP1):c.1111-9T>C
NM_001032221.6(STXBP1):c.1114C>A (p.Leu372Met) rs1841722496
NM_001032221.6(STXBP1):c.1116G>C (p.Leu372=)
NM_001032221.6(STXBP1):c.1124G>A (p.Gly375Asp) rs2131509770
NM_001032221.6(STXBP1):c.1164A>G (p.Arg388=) rs1254150561
NM_001032221.6(STXBP1):c.1167C>T (p.Ala389=)
NM_001032221.6(STXBP1):c.1170C>T (p.Ile390=) rs2131509902
NM_001032221.6(STXBP1):c.1176C>T (p.Pro392=)
NM_001032221.6(STXBP1):c.1200C>T (p.Ser400=) rs2131510012
NM_001032221.6(STXBP1):c.1206T>C (p.Tyr402=)
NM_001032221.6(STXBP1):c.1249+10_1249+27del rs1481500212
NM_001032221.6(STXBP1):c.1249+19G>A rs769217385
NM_001032221.6(STXBP1):c.1249+9G>A rs372869649
NM_001032221.6(STXBP1):c.1249+9G>C rs372869649
NM_001032221.6(STXBP1):c.1250-15G>A
NM_001032221.6(STXBP1):c.1250-17G>C rs1477546983
NM_001032221.6(STXBP1):c.1250-19G>C rs370856785
NM_001032221.6(STXBP1):c.1250-19G>T
NM_001032221.6(STXBP1):c.1250-20C>G rs368217811
NM_001032221.6(STXBP1):c.1254C>T (p.Ile418=) rs2131513094
NM_001032221.6(STXBP1):c.1260G>A (p.Glu420=) rs1564354858
NM_001032221.6(STXBP1):c.1281C>G (p.Ile427Met) rs1329067269
NM_001032221.6(STXBP1):c.1288G>T (p.Ala430Ser)
NM_001032221.6(STXBP1):c.1299C>A (p.Pro433=)
NM_001032221.6(STXBP1):c.1305G>A (p.Glu435=) rs1841768984
NM_001032221.6(STXBP1):c.1326C>T (p.Asn442=)
NM_001032221.6(STXBP1):c.1338C>A (p.Leu446=) rs752950410
NM_001032221.6(STXBP1):c.134G>T (p.Cys45Phe) rs1840656429
NM_001032221.6(STXBP1):c.1360-10G>A rs2131521467
NM_001032221.6(STXBP1):c.1360-17T>C
NM_001032221.6(STXBP1):c.1360-18G>C rs558843667
NM_001032221.6(STXBP1):c.1360-18G>T
NM_001032221.6(STXBP1):c.1366C>T (p.Leu456=) rs1841863163
NM_001032221.6(STXBP1):c.1377G>C (p.Arg459=)
NM_001032221.6(STXBP1):c.1386G>T (p.Pro462=)
NM_001032221.6(STXBP1):c.1390C>T (p.Arg464Trp) rs1239532436
NM_001032221.6(STXBP1):c.1391G>A (p.Arg464Gln) rs1381421236
NM_001032221.6(STXBP1):c.1398A>G (p.Glu466=) rs1046520263
NM_001032221.6(STXBP1):c.1407C>T (p.Ser469=)
NM_001032221.6(STXBP1):c.1408G>A (p.Glu470Lys)
NM_001032221.6(STXBP1):c.1440G>A (p.Pro480=)
NM_001032221.6(STXBP1):c.144A>C (p.Thr48=) rs1462537561
NM_001032221.6(STXBP1):c.145G>C (p.Asp49His) rs1244732832
NM_001032221.6(STXBP1):c.1461+10G>A rs1453106879
NM_001032221.6(STXBP1):c.1461+17A>G
NM_001032221.6(STXBP1):c.1462-10T>C
NM_001032221.6(STXBP1):c.1467T>C (p.Thr489=)
NM_001032221.6(STXBP1):c.147C>T (p.Asp49=) rs1373609182
NM_001032221.6(STXBP1):c.1490A>G (p.Lys497Arg) rs2131528378
NM_001032221.6(STXBP1):c.1503T>C (p.Tyr501=)
NM_001032221.6(STXBP1):c.1547+20C>T
NM_001032221.6(STXBP1):c.1548-11C>G rs1564357060
NM_001032221.6(STXBP1):c.1548-12T>A
NM_001032221.6(STXBP1):c.1548-13C>T
NM_001032221.6(STXBP1):c.1548-18TC[2] rs148316151
NM_001032221.6(STXBP1):c.1548-18TC[3] rs148316151
NM_001032221.6(STXBP1):c.1548-18TC[4] rs148316151
NM_001032221.6(STXBP1):c.1548-19_1548-18del
NM_001032221.6(STXBP1):c.1548-7_1548-6del
NM_001032221.6(STXBP1):c.1548-8_1548-3del rs768558279
NM_001032221.6(STXBP1):c.1549G>A (p.Ala517Thr) rs1057518123
NM_001032221.6(STXBP1):c.1554C>T (p.Arg518=)
NM_001032221.6(STXBP1):c.1593C>T (p.Tyr531=) rs767199598
NM_001032221.6(STXBP1):c.15C>G (p.Gly5=) rs2132275559
NM_001032221.6(STXBP1):c.1605C>T (p.Pro535=) rs779926394
NM_001032221.6(STXBP1):c.1623C>A (p.Ile541=) rs1278265158
NM_001032221.6(STXBP1):c.1633G>A (p.Val545Met)
NM_001032221.6(STXBP1):c.1647G>A (p.Glu549=)
NM_001032221.6(STXBP1):c.1674G>A (p.Gln558=) rs1842048227
NM_001032221.6(STXBP1):c.169+10C>A rs1060504318
NM_001032221.6(STXBP1):c.169+11G>A
NM_001032221.6(STXBP1):c.169+18A>C rs377086674
NM_001032221.6(STXBP1):c.169+6C>T
NM_001032221.6(STXBP1):c.169+8T>C
NM_001032221.6(STXBP1):c.170-18G>A
NM_001032221.6(STXBP1):c.170-18G>T
NM_001032221.6(STXBP1):c.1702+12T>C
NM_001032221.6(STXBP1):c.1702+15T>A
NM_001032221.6(STXBP1):c.1702+1790G>A
NM_001032221.6(STXBP1):c.1702+1794C>G rs2131542998
NM_001032221.6(STXBP1):c.1702+1801C>T rs2131543011
NM_001032221.6(STXBP1):c.171T>C (p.Ile57=) rs1554776675
NM_001032221.6(STXBP1):c.182T>C (p.Ile61Thr)
NM_001032221.6(STXBP1):c.198G>A (p.Glu66=)
NM_001032221.6(STXBP1):c.201G>T (p.Pro67=) rs377398330
NM_001032221.6(STXBP1):c.207C>T (p.Pro69=) rs1417891697
NM_001032221.6(STXBP1):c.214G>A (p.Glu72Lys) rs754668616
NM_001032221.6(STXBP1):c.216G>A (p.Glu72=) rs2132460966
NM_001032221.6(STXBP1):c.234T>G (p.Thr78=) rs1564348777
NM_001032221.6(STXBP1):c.240C>T (p.Ser80=) rs564021862
NM_001032221.6(STXBP1):c.246+14C>A
NM_001032221.6(STXBP1):c.247-11C>G
NM_001032221.6(STXBP1):c.247-11C>T
NM_001032221.6(STXBP1):c.247-13C>T rs763971558
NM_001032221.6(STXBP1):c.247-17T>C
NM_001032221.6(STXBP1):c.247-18T>C
NM_001032221.6(STXBP1):c.247-9C>A rs757257907
NM_001032221.6(STXBP1):c.247-9C>G
NM_001032221.6(STXBP1):c.249C>G (p.Ser83=)
NM_001032221.6(STXBP1):c.24T>C (p.Ala8=)
NM_001032221.6(STXBP1):c.267T>C (p.Ser89=) rs1554776832
NM_001032221.6(STXBP1):c.285G>T (p.Pro95=) rs773724420
NM_001032221.6(STXBP1):c.300G>A (p.Arg100=)
NM_001032221.6(STXBP1):c.306A>G (p.Ala102=)
NM_001032221.6(STXBP1):c.325+10A>G
NM_001032221.6(STXBP1):c.326-13G>A
NM_001032221.6(STXBP1):c.326-20G>A
NM_001032221.6(STXBP1):c.339C>T (p.Ala113=)
NM_001032221.6(STXBP1):c.33A>G (p.Gly11=) rs1588211811
NM_001032221.6(STXBP1):c.37+12C>A
NM_001032221.6(STXBP1):c.37+18C>A
NM_001032221.6(STXBP1):c.37+19C>T rs1057521969
NM_001032221.6(STXBP1):c.37+8G>T
NM_001032221.6(STXBP1):c.38-14_38-13del rs768774516
NM_001032221.6(STXBP1):c.38-5T>C rs2132436505
NM_001032221.6(STXBP1):c.38-7T>G rs2132436494
NM_001032221.6(STXBP1):c.381C>A (p.Ile127=)
NM_001032221.6(STXBP1):c.393G>A (p.Thr131=)
NM_001032221.6(STXBP1):c.405T>C (p.Ile135=)
NM_001032221.6(STXBP1):c.417G>A (p.Pro139=) rs931563377
NM_001032221.6(STXBP1):c.426C>T (p.Ser142=) rs1841030655
NM_001032221.6(STXBP1):c.429+19T>G
NM_001032221.6(STXBP1):c.429+20G>A rs2131455477
NM_001032221.6(STXBP1):c.430-4C>T
NM_001032221.6(STXBP1):c.444C>T (p.Asp148=) rs1841132483
NM_001032221.6(STXBP1):c.453C>T (p.Asp151=)
NM_001032221.6(STXBP1):c.456T>G (p.Ser152=) rs2131462456
NM_001032221.6(STXBP1):c.486T>A (p.Ala162=)
NM_001032221.6(STXBP1):c.486T>C (p.Ala162=)
NM_001032221.6(STXBP1):c.510G>A (p.Glu170=) rs1793959490
NM_001032221.6(STXBP1):c.524A>C (p.Gln175Pro)
NM_001032221.6(STXBP1):c.528C>T (p.Ile176=)
NM_001032221.6(STXBP1):c.529G>A (p.Ala177Thr) rs1411421913
NM_001032221.6(STXBP1):c.52G>A (p.Val18Met) rs2132436612
NM_001032221.6(STXBP1):c.574C>T (p.Arg192Trp) rs1841142873
NM_001032221.6(STXBP1):c.579-7T>C rs2131469008
NM_001032221.6(STXBP1):c.585C>T (p.Tyr195=)
NM_001032221.6(STXBP1):c.597C>T (p.Ala199=)
NM_001032221.6(STXBP1):c.60G>A (p.Lys20=)
NM_001032221.6(STXBP1):c.615C>A (p.Ile205=)
NM_001032221.6(STXBP1):c.624G>A (p.Lys208=) rs1841237495
NM_001032221.6(STXBP1):c.664-12G>A
NM_001032221.6(STXBP1):c.664-12G>C
NM_001032221.6(STXBP1):c.664-13T>C rs1554777463
NM_001032221.6(STXBP1):c.664-18C>T
NM_001032221.6(STXBP1):c.669A>C (p.Pro223=)
NM_001032221.6(STXBP1):c.681C>T (p.Arg227=) rs553892771
NM_001032221.6(STXBP1):c.690C>G (p.Leu230=)
NM_001032221.6(STXBP1):c.699G>A (p.Leu233=)
NM_001032221.6(STXBP1):c.6C>A (p.Ala2=) rs144094037
NM_001032221.6(STXBP1):c.729G>A (p.Val243=)
NM_001032221.6(STXBP1):c.730C>G (p.Leu244Val)
NM_001032221.6(STXBP1):c.753T>A (p.Ala251=) rs761987600
NM_001032221.6(STXBP1):c.753T>C (p.Ala251=)
NM_001032221.6(STXBP1):c.75G>A (p.Lys25=)
NM_001032221.6(STXBP1):c.778G>A (p.Glu260Lys) rs1841290624
NM_001032221.6(STXBP1):c.786T>G (p.Asp262Glu) rs2131473084
NM_001032221.6(STXBP1):c.794+10G>C
NM_001032221.6(STXBP1):c.794+15A>G
NM_001032221.6(STXBP1):c.795-11C>G
NM_001032221.6(STXBP1):c.795-13G>A
NM_001032221.6(STXBP1):c.795-18G>A
NM_001032221.6(STXBP1):c.795-20G>T
NM_001032221.6(STXBP1):c.795-6T>C rs2131481198
NM_001032221.6(STXBP1):c.795-7A>G
NM_001032221.6(STXBP1):c.797A>G (p.Tyr266Cys) rs2131481245
NM_001032221.6(STXBP1):c.798T>C (p.Tyr266=) rs751170778
NM_001032221.6(STXBP1):c.809G>T (p.Gly270Val) rs2131481318
NM_001032221.6(STXBP1):c.814G>A (p.Gly272Arg) rs1841382363
NM_001032221.6(STXBP1):c.815G>A (p.Gly272Glu) rs1554777718
NM_001032221.6(STXBP1):c.819G>A (p.Glu273=)
NM_001032221.6(STXBP1):c.837G>T (p.Val279=)
NM_001032221.6(STXBP1):c.859C>T (p.Leu287=) rs1841385147
NM_001032221.6(STXBP1):c.87+16A>G rs2132436854
NM_001032221.6(STXBP1):c.88-20G>A
NM_001032221.6(STXBP1):c.88-9T>C
NM_001032221.6(STXBP1):c.882G>A (p.Lys294=) rs1325070688
NM_001032221.6(STXBP1):c.888C>A (p.Ile296=) rs201302013
NM_001032221.6(STXBP1):c.891A>T (p.Ala297=)
NM_001032221.6(STXBP1):c.902+10C>A rs760108945
NM_001032221.6(STXBP1):c.902+12C>A
NM_001032221.6(STXBP1):c.902+16C>T
NM_001032221.6(STXBP1):c.902+7G>C rs761007581
NM_001032221.6(STXBP1):c.902+9_902+28del rs1588324230
NM_001032221.6(STXBP1):c.903-9A>G
NM_001032221.6(STXBP1):c.903-9A>T
NM_001032221.6(STXBP1):c.912C>T (p.Thr304=)
NM_001032221.6(STXBP1):c.915G>A (p.Arg305=) rs2131488913
NM_001032221.6(STXBP1):c.963+10T>G
NM_001032221.6(STXBP1):c.963+12C>G
NM_001032221.6(STXBP1):c.963+9A>T
NM_001032221.6(STXBP1):c.964-20T>G
NM_001032221.6(STXBP1):c.964-8C>A
NM_001032221.6(STXBP1):c.964-9C>G rs1034636066
NM_001032221.6(STXBP1):c.966C>A (p.Thr322=)
NM_001032221.6(STXBP1):c.96G>T (p.Val32=)
NM_001130438.3(SPTAN1):c.1008A>G (p.Arg336=)
NM_001130438.3(SPTAN1):c.1014A>G (p.Glu338=)
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=) rs752710398
NM_001130438.3(SPTAN1):c.1066C>T (p.Arg356Trp) rs370695453
NM_001130438.3(SPTAN1):c.1077T>C (p.Asp359=) rs768294119
NM_001130438.3(SPTAN1):c.1080A>C (p.Ser360=) rs1192539733
NM_001130438.3(SPTAN1):c.1080A>T (p.Ser360=)
NM_001130438.3(SPTAN1):c.1085+13C>A
NM_001130438.3(SPTAN1):c.1085+3_1085+4delinsTT rs1851440097
NM_001130438.3(SPTAN1):c.1085+8T>G
NM_001130438.3(SPTAN1):c.1086-11G>C
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA rs1554742449
NM_001130438.3(SPTAN1):c.1113T>C (p.Arg371=) rs769668578
NM_001130438.3(SPTAN1):c.1116C>T (p.Asp372=)
NM_001130438.3(SPTAN1):c.1119C>T (p.Leu373=) rs1239261034
NM_001130438.3(SPTAN1):c.1131G>A (p.Val377=)
NM_001130438.3(SPTAN1):c.1149C>T (p.Leu383=) rs2131029682
NM_001130438.3(SPTAN1):c.1158A>G (p.Ala386=)
NM_001130438.3(SPTAN1):c.1164G>A (p.Glu388=)
NM_001130438.3(SPTAN1):c.1176T>C (p.Asp392=) rs758571561
NM_001130438.3(SPTAN1):c.1179G>C (p.Val393=)
NM_001130438.3(SPTAN1):c.1186G>A (p.Ala396Thr) rs1851525959
NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=) rs2132958989
NM_001130438.3(SPTAN1):c.1218C>T (p.His406=) rs2131030883
NM_001130438.3(SPTAN1):c.1221+13C>G
NM_001130438.3(SPTAN1):c.1221+7G>A
NM_001130438.3(SPTAN1):c.1221+8T>C
NM_001130438.3(SPTAN1):c.1222-16T>G
NM_001130438.3(SPTAN1):c.1222-17G>C
NM_001130438.3(SPTAN1):c.1222-20T>C
NM_001130438.3(SPTAN1):c.1222-4G>T
NM_001130438.3(SPTAN1):c.1222-6C>T
NM_001130438.3(SPTAN1):c.1222-7C>A rs2131060807
NM_001130438.3(SPTAN1):c.1239T>C (p.His413=) rs1851707590
NM_001130438.3(SPTAN1):c.1251C>T (p.Phe417=) rs2131061265
NM_001130438.3(SPTAN1):c.1263T>C (p.Asp421=)
NM_001130438.3(SPTAN1):c.1269T>C (p.Ser423=)
NM_001130438.3(SPTAN1):c.1271G>T (p.Gly424Val) rs2131061695
NM_001130438.3(SPTAN1):c.1281G>C (p.Leu427=)
NM_001130438.3(SPTAN1):c.1287T>C (p.Ala429=)
NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)
NM_001130438.3(SPTAN1):c.1308T>C (p.Asp436=)
NM_001130438.3(SPTAN1):c.1323+15A>C rs756784077
NM_001130438.3(SPTAN1):c.1324-20A>T
NM_001130438.3(SPTAN1):c.1324-4C>A rs2131087438
NM_001130438.3(SPTAN1):c.1324-7C>T
NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)
NM_001130438.3(SPTAN1):c.1350G>T (p.Ala450=)
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
NM_001130438.3(SPTAN1):c.1362G>A (p.Glu454=) rs144590741
NM_001130438.3(SPTAN1):c.1380G>A (p.Arg460=)
NM_001130438.3(SPTAN1):c.1395G>A (p.Gln465=) rs1851874223
NM_001130438.3(SPTAN1):c.1399A>G (p.Met467Val) rs1851874498
NM_001130438.3(SPTAN1):c.1443C>T (p.Asn481=)
NM_001130438.3(SPTAN1):c.1461+15A>C
NM_001130438.3(SPTAN1):c.1461+19C>G
NM_001130438.3(SPTAN1):c.1464G>A (p.Ala488=)
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
NM_001130438.3(SPTAN1):c.1497G>A (p.Leu499=)
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn) rs1564194636
NM_001130438.3(SPTAN1):c.1572+8C>T rs2131109494
NM_001130438.3(SPTAN1):c.1573-11T>G
NM_001130438.3(SPTAN1):c.1573-14A>G
NM_001130438.3(SPTAN1):c.1573-4C>G
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)
NM_001130438.3(SPTAN1):c.1650+13G>A rs2131124699
NM_001130438.3(SPTAN1):c.1650+20A>G rs1589212297
NM_001130438.3(SPTAN1):c.1650+8T>C rs2131124451
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=) rs2131127973
NM_001130438.3(SPTAN1):c.1662C>T (p.Arg554=) rs1398071492
NM_001130438.3(SPTAN1):c.1668T>C (p.Asn556=) rs1406334272
NM_001130438.3(SPTAN1):c.1698G>A (p.Arg566=) rs2131129556
NM_001130438.3(SPTAN1):c.1767C>T (p.Val589=)
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.1806+18T>A
NM_001130438.3(SPTAN1):c.1807-13_1807-11del
NM_001130438.3(SPTAN1):c.1807-16C>A
NM_001130438.3(SPTAN1):c.1807-16C>G
NM_001130438.3(SPTAN1):c.1807-17C>T rs1057524223
NM_001130438.3(SPTAN1):c.1807-9T>C
NM_001130438.3(SPTAN1):c.1833A>G (p.Val611=) rs2131137645
NM_001130438.3(SPTAN1):c.1866A>G (p.Ser622=)
NM_001130438.3(SPTAN1):c.1881A>C (p.Arg627=)
NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile) rs1589149870
NM_001130438.3(SPTAN1):c.1929C>T (p.His643=)
NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=) rs2132960242
NM_001130438.3(SPTAN1):c.1992A>G (p.Leu664=)
NM_001130438.3(SPTAN1):c.2011+11T>C
NM_001130438.3(SPTAN1):c.2011+15A>G
NM_001130438.3(SPTAN1):c.2011+16T>C
NM_001130438.3(SPTAN1):c.2011+18G>A
NM_001130438.3(SPTAN1):c.2012-4A>G
NM_001130438.3(SPTAN1):c.2019G>A (p.Lys673=)
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
NM_001130438.3(SPTAN1):c.2082A>T (p.Leu694=) rs2131151846
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)
NM_001130438.3(SPTAN1):c.2148C>G (p.Leu716=)
NM_001130438.3(SPTAN1):c.2148C>T (p.Leu716=)
NM_001130438.3(SPTAN1):c.2175A>G (p.Ala725=) rs2131153544
NM_001130438.3(SPTAN1):c.2187T>A (p.Ala729=)
NM_001130438.3(SPTAN1):c.2193+13G>A
NM_001130438.3(SPTAN1):c.2193+14G>A
NM_001130438.3(SPTAN1):c.2193+15G>A
NM_001130438.3(SPTAN1):c.2193+17G>T
NM_001130438.3(SPTAN1):c.2193+18C>A
NM_001130438.3(SPTAN1):c.2194-15C>T
NM_001130438.3(SPTAN1):c.2194-20C>T
NM_001130438.3(SPTAN1):c.2196C>T (p.Asp732=) rs757365265
NM_001130438.3(SPTAN1):c.2207G>A (p.Gly736Asp) rs868177632
NM_001130438.3(SPTAN1):c.2262C>T (p.Asn754=)
NM_001130438.3(SPTAN1):c.2289G>A (p.Val763=)
NM_001130438.3(SPTAN1):c.2298T>C (p.Tyr766=) rs2131162364
NM_001130438.3(SPTAN1):c.2304A>C (p.Ala768=) rs750518161
NM_001130438.3(SPTAN1):c.2304A>G (p.Ala768=) rs750518161
NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=) rs2131162953
NM_001130438.3(SPTAN1):c.2322T>G (p.Val774=) rs1852316309
NM_001130438.3(SPTAN1):c.2338C>T (p.Leu780=)
NM_001130438.3(SPTAN1):c.2340G>A (p.Leu780=)
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2343_2344delinsAA (p.Asp782Asn)
NM_001130438.3(SPTAN1):c.2350C>T (p.Leu784=) rs2131163659
NM_001130438.3(SPTAN1):c.237+12C>T
NM_001130438.3(SPTAN1):c.237+9G>C rs368690134
NM_001130438.3(SPTAN1):c.238-13G>A
NM_001130438.3(SPTAN1):c.2401C>A (p.Arg801=) rs2131164463
NM_001130438.3(SPTAN1):c.2421C>A (p.Ala807=) rs1329573763
NM_001130438.3(SPTAN1):c.2437+13C>T
NM_001130438.3(SPTAN1):c.2438-14del rs1459543412
NM_001130438.3(SPTAN1):c.2438-19G>A rs760955571
NM_001130438.3(SPTAN1):c.2439T>C (p.Gly813=) rs2131169619
NM_001130438.3(SPTAN1):c.2457C>T (p.Val819=) rs2131169778
NM_001130438.3(SPTAN1):c.2466G>A (p.Leu822=) rs2131169980
NM_001130438.3(SPTAN1):c.2481A>T (p.Gln827His) rs764460035
NM_001130438.3(SPTAN1):c.2513C>T (p.Pro838Leu) rs1589220462
NM_001130438.3(SPTAN1):c.2517C>T (p.Arg839=) rs2131170700
NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)
NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=) rs754477004
NM_001130438.3(SPTAN1):c.2541G>A (p.Gly847=)
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=) rs1554746826
NM_001130438.3(SPTAN1):c.2547C>T (p.Ala849=)
NM_001130438.3(SPTAN1):c.2560+10T>C rs2131171607
NM_001130438.3(SPTAN1):c.2560+19T>C rs2131171763
NM_001130438.3(SPTAN1):c.2560+8_2560+11del
NM_001130438.3(SPTAN1):c.2560+9T>G
NM_001130438.3(SPTAN1):c.2561-10C>T rs1268108012
NM_001130438.3(SPTAN1):c.2561-8T>C
NM_001130438.3(SPTAN1):c.2580T>C (p.Asp860=) rs1589223768
NM_001130438.3(SPTAN1):c.2592G>A (p.Lys864=) rs2131193482
NM_001130438.3(SPTAN1):c.2604G>A (p.Leu868=)
NM_001130438.3(SPTAN1):c.2652G>A (p.Gln884=)
NM_001130438.3(SPTAN1):c.2656C>T (p.Leu886=)
NM_001130438.3(SPTAN1):c.2721G>A (p.Arg907=)
NM_001130438.3(SPTAN1):c.2733C>T (p.Pro911=) rs768756536
NM_001130438.3(SPTAN1):c.2736T>C (p.Ile912=)
NM_001130438.3(SPTAN1):c.2752T>A (p.Tyr918Asn) rs1589224403
NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)
NM_001130438.3(SPTAN1):c.2778+10C>A rs369106919
NM_001130438.3(SPTAN1):c.2778+11G>A
NM_001130438.3(SPTAN1):c.2778+19C>T
NM_001130438.3(SPTAN1):c.2778+9G>C rs2131197048
NM_001130438.3(SPTAN1):c.2779-13G>A
NM_001130438.3(SPTAN1):c.2779-18G>A
NM_001130438.3(SPTAN1):c.2779-20A>C
NM_001130438.3(SPTAN1):c.2781T>C (p.Ala927=) rs1263461316
NM_001130438.3(SPTAN1):c.2781T>G (p.Ala927=) rs1263461316
NM_001130438.3(SPTAN1):c.2784A>G (p.Leu928=) rs1428549846
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=) rs1057522083
NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=) rs1238640716
NM_001130438.3(SPTAN1):c.2811A>G (p.Ser937=) rs2131238281
NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)
NM_001130438.3(SPTAN1):c.2850A>G (p.Arg950=)
NM_001130438.3(SPTAN1):c.2869C>A (p.Arg957=)
NM_001130438.3(SPTAN1):c.2872-14del rs1853033407
NM_001130438.3(SPTAN1):c.2872-20_2872-10del
NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)
NM_001130438.3(SPTAN1):c.2901T>C (p.Thr967=)
NM_001130438.3(SPTAN1):c.2916C>G (p.Val972=)
NM_001130438.3(SPTAN1):c.2916C>T (p.Val972=)
NM_001130438.3(SPTAN1):c.2952A>G (p.Arg984=) rs1336849990
NM_001130438.3(SPTAN1):c.3006+10A>C
NM_001130438.3(SPTAN1):c.3006+13G>A
NM_001130438.3(SPTAN1):c.3006+17G>A rs1853056982
NM_001130438.3(SPTAN1):c.3007-16C>T
NM_001130438.3(SPTAN1):c.3007-3del rs1589245726
NM_001130438.3(SPTAN1):c.3007-5C>G
NM_001130438.3(SPTAN1):c.3045T>C (p.Phe1015=)
NM_001130438.3(SPTAN1):c.3048G>T (p.Val1016=)
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3057G>T (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3081C>A (p.Ala1027=)
NM_001130438.3(SPTAN1):c.3087A>G (p.Ser1029=)
NM_001130438.3(SPTAN1):c.3088G>C (p.Ala1030Pro) rs1554751018
NM_001130438.3(SPTAN1):c.3094C>A (p.Arg1032=)
NM_001130438.3(SPTAN1):c.3155+11C>T
NM_001130438.3(SPTAN1):c.3156-12C>A rs1328344344
NM_001130438.3(SPTAN1):c.3156-15G>A
NM_001130438.3(SPTAN1):c.3156-17G>C
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=) rs1182605348
NM_001130438.3(SPTAN1):c.3177C>G (p.Ala1059=) rs369531936
NM_001130438.3(SPTAN1):c.3215+11T>C
NM_001130438.3(SPTAN1):c.3215+12G>T
NM_001130438.3(SPTAN1):c.3215+15A>T rs367678277
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3215+9G>A
NM_001130438.3(SPTAN1):c.3216-17C>G rs376147583
NM_001130438.3(SPTAN1):c.3216-17C>T
NM_001130438.3(SPTAN1):c.3228G>A (p.Leu1076=)
NM_001130438.3(SPTAN1):c.3267G>A (p.Lys1089=) rs2131360582
NM_001130438.3(SPTAN1):c.3321C>T (p.Ile1107=)
NM_001130438.3(SPTAN1):c.3336C>T (p.Ala1112=)
NM_001130438.3(SPTAN1):c.3360A>G (p.Gly1120=)
NM_001130438.3(SPTAN1):c.3390G>A (p.Gln1130=) rs2131361631
NM_001130438.3(SPTAN1):c.3414+12C>T rs2131361950
NM_001130438.3(SPTAN1):c.3415-14C>T
NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)
NM_001130438.3(SPTAN1):c.3512A>G (p.Gln1171Arg) rs2131438786
NM_001130438.3(SPTAN1):c.3519+5GT[3]
NM_001130438.3(SPTAN1):c.3519+7G>A
NM_001130438.3(SPTAN1):c.3519+9C>G
NM_001130438.3(SPTAN1):c.3520-15T>C
NM_001130438.3(SPTAN1):c.3520-17TC[6]
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=) rs1589272670
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=) rs1060504932
NM_001130438.3(SPTAN1):c.3543+13T>C
NM_001130438.3(SPTAN1):c.3543+14G>C
NM_001130438.3(SPTAN1):c.3543+16TG[3]
NM_001130438.3(SPTAN1):c.3543+19G>A
NM_001130438.3(SPTAN1):c.3544-15T>G rs2131474529
NM_001130438.3(SPTAN1):c.3544-17C>T
NM_001130438.3(SPTAN1):c.3544-7dup
NM_001130438.3(SPTAN1):c.3567C>A (p.Ala1189=) rs2131475513
NM_001130438.3(SPTAN1):c.3573G>A (p.Pro1191=) rs781021400
NM_001130438.3(SPTAN1):c.3579+21del rs2131476505
NM_001130438.3(SPTAN1):c.3579+8C>A rs1854910788
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3580-8C>G
NM_001130438.3(SPTAN1):c.3603C>T (p.Thr1201=)
NM_001130438.3(SPTAN1):c.3628-10T>C rs975869088
NM_001130438.3(SPTAN1):c.3628-16T>C
NM_001130438.3(SPTAN1):c.3628-18T>C rs2131557625
NM_001130438.3(SPTAN1):c.3628-19A>T rs1054939979
NM_001130438.3(SPTAN1):c.363+14G>A
NM_001130438.3(SPTAN1):c.363+18G>T
NM_001130438.3(SPTAN1):c.364-14T>A rs1851102352
NM_001130438.3(SPTAN1):c.364-20C>T rs780867742
NM_001130438.3(SPTAN1):c.364-7C>T
NM_001130438.3(SPTAN1):c.3663G>A (p.Leu1221=)
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=) rs372831978
NM_001130438.3(SPTAN1):c.366C>T (p.Thr122=)
NM_001130438.3(SPTAN1):c.3719+12_3719+14del rs1013786773
NM_001130438.3(SPTAN1):c.3719+13C>A rs558756418
NM_001130438.3(SPTAN1):c.3719+13C>G
NM_001130438.3(SPTAN1):c.3719+14C>T rs2131559207
NM_001130438.3(SPTAN1):c.3719+16T>C
NM_001130438.3(SPTAN1):c.3719+18G>A rs2131559361
NM_001130438.3(SPTAN1):c.3719+19G>T
NM_001130438.3(SPTAN1):c.3720-17A>G
NM_001130438.3(SPTAN1):c.3720-8G>C
NM_001130438.3(SPTAN1):c.3720-9C>T
NM_001130438.3(SPTAN1):c.3722A>G (p.Asp1241Gly) rs2131571144
NM_001130438.3(SPTAN1):c.372G>A (p.Leu124=)
NM_001130438.3(SPTAN1):c.3783T>C (p.Tyr1261=) rs1589296050
NM_001130438.3(SPTAN1):c.3789T>C (p.His1263=) rs1855655548
NM_001130438.3(SPTAN1):c.3804C>T (p.Val1268=)
NM_001130438.3(SPTAN1):c.3810C>T (p.Ala1270=)
NM_001130438.3(SPTAN1):c.3817C>T (p.Arg1273Cys) rs1160926095
NM_001130438.3(SPTAN1):c.381G>A (p.Leu127=)
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=) rs1589296272
NM_001130438.3(SPTAN1):c.3840G>A (p.Arg1280=)
NM_001130438.3(SPTAN1):c.3855C>T (p.Leu1285=) rs370435310
NM_001130438.3(SPTAN1):c.3864+10C>A
NM_001130438.3(SPTAN1):c.3864+16G>A rs2131573539
NM_001130438.3(SPTAN1):c.3865-16C>A
NM_001130438.3(SPTAN1):c.3865-4A>T rs769349794
NM_001130438.3(SPTAN1):c.3865-8T>C rs1197311171
NM_001130438.3(SPTAN1):c.3867A>C (p.Val1289=)
NM_001130438.3(SPTAN1):c.3885A>G (p.Thr1295=)
NM_001130438.3(SPTAN1):c.3903G>T (p.Gln1301His) rs1232892387
NM_001130438.3(SPTAN1):c.3906C>G (p.Ser1302=) rs1855689306
NM_001130438.3(SPTAN1):c.3981T>G (p.Arg1327=) rs1855698042
NM_001130438.3(SPTAN1):c.3999A>G (p.Ala1333=)
NM_001130438.3(SPTAN1):c.4011C>T (p.Asp1337=) rs1296309754
NM_001130438.3(SPTAN1):c.4020C>T (p.Asp1340=) rs2131577299
NM_001130438.3(SPTAN1):c.4023G>C (p.Leu1341=)
NM_001130438.3(SPTAN1):c.4029C>A (p.Arg1343=)
NM_001130438.3(SPTAN1):c.4046+11A>G rs765778684
NM_001130438.3(SPTAN1):c.4046+12T>C
NM_001130438.3(SPTAN1):c.4047-14G>A
NM_001130438.3(SPTAN1):c.4047-14G>C rs558154123
NM_001130438.3(SPTAN1):c.4047-18T>G
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn) rs1564278818
NM_001130438.3(SPTAN1):c.4071A>G (p.Gly1357=)
NM_001130438.3(SPTAN1):c.4125G>A (p.Glu1375=)
NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=) rs2131613638
NM_001130438.3(SPTAN1):c.4138C>A (p.Arg1380=)
NM_001130438.3(SPTAN1):c.4143C>T (p.His1381=)
NM_001130438.3(SPTAN1):c.4146+10C>G
NM_001130438.3(SPTAN1):c.4146+12T>C
NM_001130438.3(SPTAN1):c.4147-10C>T rs1856089219
NM_001130438.3(SPTAN1):c.4147-10_4147-8del rs1589309345
NM_001130438.3(SPTAN1):c.4147-20C>A
NM_001130438.3(SPTAN1):c.4170C>T (p.Ala1390=) rs1589309475
NM_001130438.3(SPTAN1):c.4197G>A (p.Glu1399=) rs367635991
NM_001130438.3(SPTAN1):c.420A>G (p.Glu140=)
NM_001130438.3(SPTAN1):c.4215G>A (p.Leu1405=)
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=) rs754607337
NM_001130438.3(SPTAN1):c.4227A>G (p.Gly1409=)
NM_001130438.3(SPTAN1):c.4263T>C (p.Asp1421=)
NM_001130438.3(SPTAN1):c.4266T>C (p.Ile1422=)
NM_001130438.3(SPTAN1):c.4278G>A (p.Glu1426=) rs2131617669
NM_001130438.3(SPTAN1):c.4344+10C>T
NM_001130438.3(SPTAN1):c.4344+12C>T
NM_001130438.3(SPTAN1):c.4344+13C>T
NM_001130438.3(SPTAN1):c.4345-13T>A
NM_001130438.3(SPTAN1):c.4345-18G>T
NM_001130438.3(SPTAN1):c.4345-19T>G
NM_001130438.3(SPTAN1):c.4345-9C>A
NM_001130438.3(SPTAN1):c.4392G>A (p.Arg1464=)
NM_001130438.3(SPTAN1):c.4458A>G (p.Lys1486=) rs1411742904
NM_001130438.3(SPTAN1):c.4479G>T (p.Ala1493=) rs201716851
NM_001130438.3(SPTAN1):c.4482T>C (p.Ile1494=)
NM_001130438.3(SPTAN1):c.4491+12G>A
NM_001130438.3(SPTAN1):c.4491+17A>G
NM_001130438.3(SPTAN1):c.4491+18T>C rs777889951
NM_001130438.3(SPTAN1):c.4491+8C>T
NM_001130438.3(SPTAN1):c.4491+9T>C rs894723847
NM_001130438.3(SPTAN1):c.4492-20A>G rs944908728
NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=)
NM_001130438.3(SPTAN1):c.4515G>A (p.Gln1505=) rs1430495860
NM_001130438.3(SPTAN1):c.4518C>A (p.Ala1506=) rs777801455
NM_001130438.3(SPTAN1):c.4518C>G (p.Ala1506=) rs777801455
NM_001130438.3(SPTAN1):c.4518C>T (p.Ala1506=)
NM_001130438.3(SPTAN1):c.4533C>G (p.Leu1511=) rs375026050
NM_001130438.3(SPTAN1):c.4542C>T (p.Ala1514=)
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr) rs1564282020
NM_001130438.3(SPTAN1):c.4569T>C (p.Ser1523=) rs757364140
NM_001130438.3(SPTAN1):c.456G>T (p.Val152=) rs1589176928
NM_001130438.3(SPTAN1):c.4595+18C>T
NM_001130438.3(SPTAN1):c.4595+7G>A
NM_001130438.3(SPTAN1):c.45C>T (p.Ile15=) rs1589149454
NM_001130438.3(SPTAN1):c.4605T>C (p.Arg1535=)
NM_001130438.3(SPTAN1):c.4614C>T (p.Ala1538=) rs769733032
NM_001130438.3(SPTAN1):c.4630A>C (p.Arg1544=) rs373650761
NM_001130438.3(SPTAN1):c.4641A>G (p.Leu1547=)
NM_001130438.3(SPTAN1):c.4653A>G (p.Gln1551=) rs2131635657
NM_001130438.3(SPTAN1):c.4672C>A (p.Arg1558=)
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=) rs1554758298
NM_001130438.3(SPTAN1):c.4677T>C (p.Asp1559=) rs2131635862
NM_001130438.3(SPTAN1):c.4686G>A (p.Glu1562=) rs2131635933
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=) rs755612920
NM_001130438.3(SPTAN1):c.4734G>A (p.Ser1578=) rs370640807
NM_001130438.3(SPTAN1):c.4734G>T (p.Ser1578=)
NM_001130438.3(SPTAN1):c.4758+14A>T
NM_001130438.3(SPTAN1):c.4758+17G>A
NM_001130438.3(SPTAN1):c.4758+5G>A rs1589316336
NM_001130438.3(SPTAN1):c.4759-12C>T
NM_001130438.3(SPTAN1):c.4767G>A (p.Lys1589=)
NM_001130438.3(SPTAN1):c.4773+20A>G
NM_001130438.3(SPTAN1):c.4774-17T>G
NM_001130438.3(SPTAN1):c.4774-8A>G
NM_001130438.3(SPTAN1):c.47A>G (p.Gln16Arg) rs2132957298
NM_001130438.3(SPTAN1):c.4806A>C (p.Ala1602=)
NM_001130438.3(SPTAN1):c.4815T>C (p.His1605=) rs2131676265
NM_001130438.3(SPTAN1):c.4839G>A (p.Gly1613=)
NM_001130438.3(SPTAN1):c.4845C>T (p.Ile1615=)
NM_001130438.3(SPTAN1):c.4863C>T (p.Leu1621=)
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=) rs759241143
NM_001130438.3(SPTAN1):c.4905+11C>G
NM_001130438.3(SPTAN1):c.4905+19dup rs763250092
NM_001130438.3(SPTAN1):c.4905+9C>G
NM_001130438.3(SPTAN1):c.4906-6C>G
NM_001130438.3(SPTAN1):c.4929C>T (p.Asp1643=) rs1379977913
NM_001130438.3(SPTAN1):c.4947G>A (p.Val1649=)
NM_001130438.3(SPTAN1):c.4956A>G (p.Ser1652=)
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.4995G>A (p.Gln1665=) rs2131682537
NM_001130438.3(SPTAN1):c.5016C>T (p.Ile1672=)
NM_001130438.3(SPTAN1):c.501C>T (p.Asp167=) rs1851117702
NM_001130438.3(SPTAN1):c.5035C>T (p.Leu1679=)
NM_001130438.3(SPTAN1):c.504+14A>C
NM_001130438.3(SPTAN1):c.5043+11G>A
NM_001130438.3(SPTAN1):c.5043+7C>T
NM_001130438.3(SPTAN1):c.5044-11_5044-10dup
NM_001130438.3(SPTAN1):c.5044-8A>G
NM_001130438.3(SPTAN1):c.505-15A>G
NM_001130438.3(SPTAN1):c.505-16T>C
NM_001130438.3(SPTAN1):c.505-20C>T rs779640676
NM_001130438.3(SPTAN1):c.5058G>A (p.Leu1686=)
NM_001130438.3(SPTAN1):c.5076C>A (p.Gly1692=) rs761438413
NM_001130438.3(SPTAN1):c.5091T>C (p.Ser1697=)
NM_001130438.3(SPTAN1):c.5119C>T (p.Leu1707=)
NM_001130438.3(SPTAN1):c.5136A>T (p.Ile1712=) rs1426233215
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=) rs777942959
NM_001130438.3(SPTAN1):c.5145T>C (p.His1715=) rs1392565711
NM_001130438.3(SPTAN1):c.5148+12G>C
NM_001130438.3(SPTAN1):c.5148+14G>A
NM_001130438.3(SPTAN1):c.5148+16C>A rs765477570
NM_001130438.3(SPTAN1):c.5148+18G>A
NM_001130438.3(SPTAN1):c.5149-14G>A
NM_001130438.3(SPTAN1):c.5149-6C>A
NM_001130438.3(SPTAN1):c.5149-8del
NM_001130438.3(SPTAN1):c.5202C>T (p.Ala1734=) rs2131744231
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=) rs1057524335
NM_001130438.3(SPTAN1):c.5310C>T (p.Arg1770=)
NM_001130438.3(SPTAN1):c.5325C>T (p.Phe1775=)
NM_001130438.3(SPTAN1):c.5337T>C (p.Asp1779=)
NM_001130438.3(SPTAN1):c.5358-12TC[2] rs769628464
NM_001130438.3(SPTAN1):c.5358-14C>T rs2131789214
NM_001130438.3(SPTAN1):c.5358-15C>T
NM_001130438.3(SPTAN1):c.5358-16C>G rs143969764
NM_001130438.3(SPTAN1):c.5358-20G>A rs767012741
NM_001130438.3(SPTAN1):c.5373G>T (p.Leu1791=)
NM_001130438.3(SPTAN1):c.5382A>C (p.Ser1794=) rs1359210582
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5463T>C (p.His1821=)
NM_001130438.3(SPTAN1):c.5478+11C>T
NM_001130438.3(SPTAN1):c.5478+20G>A
NM_001130438.3(SPTAN1):c.5479-16C>T
NM_001130438.3(SPTAN1):c.5479-5G>A rs1554763238
NM_001130438.3(SPTAN1):c.5496C>G (p.Gly1832=) rs1352540009
NM_001130438.3(SPTAN1):c.549T>C (p.His183=) rs1589179284
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=) rs776079416
NM_001130438.3(SPTAN1):c.5568C>T (p.His1856=) rs1857396464
NM_001130438.3(SPTAN1):c.5592A>C (p.Ala1864=) rs1857398448
NM_001130438.3(SPTAN1):c.5592A>G (p.Ala1864=)
NM_001130438.3(SPTAN1):c.5600+15G>T rs2131800720
NM_001130438.3(SPTAN1):c.5601-16T>C
NM_001130438.3(SPTAN1):c.5601-20T>C
NM_001130438.3(SPTAN1):c.5608C>T (p.Arg1870Trp) rs1423165476
NM_001130438.3(SPTAN1):c.5619G>A (p.Glu1873=)
NM_001130438.3(SPTAN1):c.5628A>G (p.Glu1876=) rs1589358990
NM_001130438.3(SPTAN1):c.5649T>C (p.Asn1883=) rs1057522205
NM_001130438.3(SPTAN1):c.5658G>A (p.Glu1886=)
NM_001130438.3(SPTAN1):c.5676T>C (p.Asn1892=) rs2131817623
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=) rs867428978
NM_001130438.3(SPTAN1):c.5706T>C (p.Asp1902=) rs2131818082
NM_001130438.3(SPTAN1):c.570A>G (p.Lys190=)
NM_001130438.3(SPTAN1):c.5724C>A (p.Ala1908=) rs886063507
NM_001130438.3(SPTAN1):c.5733+18G>A
NM_001130438.3(SPTAN1):c.5734-4C>G rs2131850841
NM_001130438.3(SPTAN1):c.5734-9C>G rs779869876
NM_001130438.3(SPTAN1):c.5734-9C>T
NM_001130438.3(SPTAN1):c.5748A>G (p.Lys1916=)
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
NM_001130438.3(SPTAN1):c.5814A>G (p.Gly1938=)
NM_001130438.3(SPTAN1):c.5823C>T (p.Leu1941=)
NM_001130438.3(SPTAN1):c.5832+15T>C
NM_001130438.3(SPTAN1):c.5832+8C>T
NM_001130438.3(SPTAN1):c.5833-11C>G
NM_001130438.3(SPTAN1):c.5833-15C>G
NM_001130438.3(SPTAN1):c.5833-17C>T
NM_001130438.3(SPTAN1):c.5833-19G>T
NM_001130438.3(SPTAN1):c.5833-4C>T
NM_001130438.3(SPTAN1):c.5833-6G>A
NM_001130438.3(SPTAN1):c.5833-9A>G
NM_001130438.3(SPTAN1):c.5883G>A (p.Gly1961=) rs1367701362
NM_001130438.3(SPTAN1):c.588A>C (p.Thr196=) rs776782747
NM_001130438.3(SPTAN1):c.5895C>T (p.Asp1965=) rs1471583021
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
NM_001130438.3(SPTAN1):c.5904A>G (p.Lys1968=) rs778709187
NM_001130438.3(SPTAN1):c.591T>C (p.Asp197=) rs2130976410
NM_001130438.3(SPTAN1):c.5928G>A (p.Lys1976=)
NM_001130438.3(SPTAN1):c.5970G>A (p.Ala1990=)
NM_001130438.3(SPTAN1):c.5993-10C>G rs773841663
NM_001130438.3(SPTAN1):c.5993-10del
NM_001130438.3(SPTAN1):c.5993-12T>C
NM_001130438.3(SPTAN1):c.5993-5T>C
NM_001130438.3(SPTAN1):c.6030C>T (p.Gly2010=)
NM_001130438.3(SPTAN1):c.6048G>A (p.Val2016=) rs557306645
NM_001130438.3(SPTAN1):c.6066A>G (p.Lys2022=)
NM_001130438.3(SPTAN1):c.6069+10G>A
NM_001130438.3(SPTAN1):c.6069+15C>T
NM_001130438.3(SPTAN1):c.6069+7C>T rs1554766358
NM_001130438.3(SPTAN1):c.6070-12C>T rs771489152
NM_001130438.3(SPTAN1):c.6070-17T>C
NM_001130438.3(SPTAN1):c.6070-6G>A rs1858640761
NM_001130438.3(SPTAN1):c.6075T>C (p.Thr2025=)
NM_001130438.3(SPTAN1):c.6077T>C (p.Phe2026Ser) rs1485892769
NM_001130438.3(SPTAN1):c.6084T>C (p.Ala2028=)
NM_001130438.3(SPTAN1):c.6120C>T (p.Asn2040=) rs2131952739
NM_001130438.3(SPTAN1):c.6138T>C (p.Asp2046=)
NM_001130438.3(SPTAN1):c.615T>G (p.Val205=)
NM_001130438.3(SPTAN1):c.6177C>T (p.Ile2059=)
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=) rs367629442
NM_001130438.3(SPTAN1):c.6192C>G (p.Ala2064=)
NM_001130438.3(SPTAN1):c.6198C>T (p.Leu2066=) rs138305416
NM_001130438.3(SPTAN1):c.6220C>T (p.Leu2074=)
NM_001130438.3(SPTAN1):c.6225C>T (p.Ala2075=) rs2131954813
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
NM_001130438.3(SPTAN1):c.6279+12G>A
NM_001130438.3(SPTAN1):c.6279+16C>T rs555451095
NM_001130438.3(SPTAN1):c.6279+17G>A rs1233546957
NM_001130438.3(SPTAN1):c.6279+17G>C
NM_001130438.3(SPTAN1):c.6279+17G>T
NM_001130438.3(SPTAN1):c.627C>T (p.Asn209=)
NM_001130438.3(SPTAN1):c.6294C>T (p.Phe2098=)
NM_001130438.3(SPTAN1):c.6327C>T (p.Asn2109=) rs1432749648
NM_001130438.3(SPTAN1):c.6345A>G (p.Ala2115=) rs1858761394
NM_001130438.3(SPTAN1):c.6366C>T (p.Pro2122=) rs775566979
NM_001130438.3(SPTAN1):c.6447G>A (p.Gln2149=)
NM_001130438.3(SPTAN1):c.6465G>C (p.Leu2155=)
NM_001130438.3(SPTAN1):c.6468C>G (p.Ala2156=)
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6501A>G (p.Val2167=) rs867703193
NM_001130438.3(SPTAN1):c.6507C>G (p.Ser2169=)
NM_001130438.3(SPTAN1):c.6507C>T (p.Ser2169=)
NM_001130438.3(SPTAN1):c.651+11A>G
NM_001130438.3(SPTAN1):c.651+16C>T
NM_001130438.3(SPTAN1):c.651+18G>A rs1419393335
NM_001130438.3(SPTAN1):c.651+20A>G
NM_001130438.3(SPTAN1):c.6516C>T (p.Tyr2172=)
NM_001130438.3(SPTAN1):c.652-9C>A
NM_001130438.3(SPTAN1):c.6528C>A (p.Thr2176=)
NM_001130438.3(SPTAN1):c.654G>A (p.Glu218=)
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=) rs1482545101
NM_001130438.3(SPTAN1):c.6576+16C>A rs745494941
NM_001130438.3(SPTAN1):c.6576+16C>T
NM_001130438.3(SPTAN1):c.6576+18C>T
NM_001130438.3(SPTAN1):c.6576+7C>G rs765667007
NM_001130438.3(SPTAN1):c.6577-14C>A rs540922784
NM_001130438.3(SPTAN1):c.6577-14C>G rs540922784
NM_001130438.3(SPTAN1):c.6577-17C>T
NM_001130438.3(SPTAN1):c.6577-6C>T
NM_001130438.3(SPTAN1):c.6577-9G>C
NM_001130438.3(SPTAN1):c.6607C>A (p.Arg2203=) rs759842941
NM_001130438.3(SPTAN1):c.6609G>A (p.Arg2203=) rs1300415391
NM_001130438.3(SPTAN1):c.6624C>T (p.Asn2208=)
NM_001130438.3(SPTAN1):c.6689+11G>A
NM_001130438.3(SPTAN1):c.6690-14T>C rs2131994892
NM_001130438.3(SPTAN1):c.6690-4A>G rs1465836894
NM_001130438.3(SPTAN1):c.6690-7T>G rs868686679
NM_001130438.3(SPTAN1):c.6693A>C (p.Thr2231=)
NM_001130438.3(SPTAN1):c.6707+10G>T
NM_001130438.3(SPTAN1):c.6707+12T>C
NM_001130438.3(SPTAN1):c.6707+9T>C rs2131995556
NM_001130438.3(SPTAN1):c.6708-11T>C
NM_001130438.3(SPTAN1):c.6708-13C>A
NM_001130438.3(SPTAN1):c.6708-13C>T
NM_001130438.3(SPTAN1):c.6708-19A>G rs771695175
NM_001130438.3(SPTAN1):c.6744C>T (p.Ser2248=) rs1173450745
NM_001130438.3(SPTAN1):c.6756T>G (p.Ala2252=)
NM_001130438.3(SPTAN1):c.6762+10C>A rs367706466
NM_001130438.3(SPTAN1):c.6762+16G>A
NM_001130438.3(SPTAN1):c.6762+16_6762+22del
NM_001130438.3(SPTAN1):c.6762+8C>G rs2132047025
NM_001130438.3(SPTAN1):c.6763-10A>G
NM_001130438.3(SPTAN1):c.6763-11C>A rs1356782148
NM_001130438.3(SPTAN1):c.6763-16C>T
NM_001130438.3(SPTAN1):c.6763-4G>C
NM_001130438.3(SPTAN1):c.6763-6C>G rs543227930
NM_001130438.3(SPTAN1):c.6777A>C (p.Glu2259Asp) rs1859855635
NM_001130438.3(SPTAN1):c.6867G>A (p.Glu2289=)
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
NM_001130438.3(SPTAN1):c.6882C>G (p.Gly2294=)
NM_001130438.3(SPTAN1):c.6882C>T (p.Gly2294=) rs1859868464
NM_001130438.3(SPTAN1):c.6888C>T (p.Ala2296=)
NM_001130438.3(SPTAN1):c.6903G>A (p.Gln2301=)
NM_001130438.3(SPTAN1):c.6948G>A (p.Gln2316=)
NM_001130438.3(SPTAN1):c.6959+11G>A rs2132091181
NM_001130438.3(SPTAN1):c.6959+12G>A
NM_001130438.3(SPTAN1):c.6959+16G>A
NM_001130438.3(SPTAN1):c.6959+17T>C
NM_001130438.3(SPTAN1):c.6959+18G>C
NM_001130438.3(SPTAN1):c.6959+7G>T rs373990901
NM_001130438.3(SPTAN1):c.6959+8G>A
NM_001130438.3(SPTAN1):c.6960-12T>G
NM_001130438.3(SPTAN1):c.6960-15C>A rs1388078458
NM_001130438.3(SPTAN1):c.6966A>G (p.Thr2322=)
NM_001130438.3(SPTAN1):c.6972T>C (p.Gly2324=) rs2132094715
NM_001130438.3(SPTAN1):c.6975G>A (p.Val2325=)
NM_001130438.3(SPTAN1):c.6975G>C (p.Val2325=)
NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)
NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)
NM_001130438.3(SPTAN1):c.7013+11C>A rs769831605
NM_001130438.3(SPTAN1):c.7013+13T>C
NM_001130438.3(SPTAN1):c.7013+14T>C
NM_001130438.3(SPTAN1):c.7013+16C>A
NM_001130438.3(SPTAN1):c.7013+20C>T
NM_001130438.3(SPTAN1):c.7013+9A>G
NM_001130438.3(SPTAN1):c.7014-15G>A rs201100247
NM_001130438.3(SPTAN1):c.7014-15G>C
NM_001130438.3(SPTAN1):c.7014-5T>G
NM_001130438.3(SPTAN1):c.7020T>C (p.Phe2340=)
NM_001130438.3(SPTAN1):c.7035T>C (p.Ser2345=) rs2132099422
NM_001130438.3(SPTAN1):c.7044G>A (p.Leu2348=)
NM_001130438.3(SPTAN1):c.7074C>A (p.Arg2358=) rs771456936
NM_001130438.3(SPTAN1):c.708C>G (p.Ala236=) rs1004400579
NM_001130438.3(SPTAN1):c.7101G>A (p.Val2367=)
NM_001130438.3(SPTAN1):c.7131G>A (p.Glu2377=) rs1177783409
NM_001130438.3(SPTAN1):c.7135A>C (p.Ile2379Leu) rs770358940
NM_001130438.3(SPTAN1):c.7149G>A (p.Val2383=)
NM_001130438.3(SPTAN1):c.7160+10T>C rs1859976612
NM_001130438.3(SPTAN1):c.7160+11T>C
NM_001130438.3(SPTAN1):c.7160+12A>T rs2132102746
NM_001130438.3(SPTAN1):c.7160+5_7160+9dup rs747442396
NM_001130438.3(SPTAN1):c.7160+9A>G rs748642362
NM_001130438.3(SPTAN1):c.7161-18dup
NM_001130438.3(SPTAN1):c.7161-6T>G
NM_001130438.3(SPTAN1):c.7161-8G>T
NM_001130438.3(SPTAN1):c.7198A>G (p.Met2400Val) rs1339856488
NM_001130438.3(SPTAN1):c.7221C>T (p.Asn2407=)
NM_001130438.3(SPTAN1):c.7224C>G (p.Val2408=) rs771262997
NM_001130438.3(SPTAN1):c.7242T>C (p.Ile2414=) rs2132106786
NM_001130438.3(SPTAN1):c.726C>T (p.Gly242=)
NM_001130438.3(SPTAN1):c.7287G>T (p.Val2429=)
NM_001130438.3(SPTAN1):c.7293G>A (p.Lys2431=)
NM_001130438.3(SPTAN1):c.7308+18T>C
NM_001130438.3(SPTAN1):c.7308+9del rs1191675267
NM_001130438.3(SPTAN1):c.7309-14C>G rs1589422584
NM_001130438.3(SPTAN1):c.7309-15TC[4] rs770948927
NM_001130438.3(SPTAN1):c.7309-6C>T rs1191417693
NM_001130438.3(SPTAN1):c.7309-8C>A
NM_001130438.3(SPTAN1):c.7314G>A (p.Leu2438=) rs2132117488
NM_001130438.3(SPTAN1):c.7334A>G (p.Tyr2445Cys) rs1364724669
NM_001130438.3(SPTAN1):c.733C>T (p.Leu245=)
NM_001130438.3(SPTAN1):c.7357T>C (p.Tyr2453His) rs1589423064
NM_001130438.3(SPTAN1):c.7386C>T (p.Pro2462=)
NM_001130438.3(SPTAN1):c.7396G>C (p.Asp2466His) rs367776636
NM_001130438.3(SPTAN1):c.7398C>T (p.Asp2466=)
NM_001130438.3(SPTAN1):c.7407G>A (p.Glu2469=)
NM_001130438.3(SPTAN1):c.7419G>T (p.Ser2473=) rs375649697
NM_001130438.3(SPTAN1):c.741G>A (p.Arg247=)
NM_001130438.3(SPTAN1):c.783C>T (p.Asn261=) rs1265434463
NM_001130438.3(SPTAN1):c.785+19C>A
NM_001130438.3(SPTAN1):c.785+8G>A
NM_001130438.3(SPTAN1):c.785+9C>T
NM_001130438.3(SPTAN1):c.786-11T>G rs1244125212
NM_001130438.3(SPTAN1):c.786-4G>A
NM_001130438.3(SPTAN1):c.801T>C (p.Thr267=)
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys) rs1850092105
NM_001130438.3(SPTAN1):c.837C>T (p.Ala279=) rs200243332
NM_001130438.3(SPTAN1):c.846T>C (p.Asp282=)
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=) rs1454898745
NM_001130438.3(SPTAN1):c.882T>C (p.Leu294=) rs2131012378
NM_001130438.3(SPTAN1):c.885G>A (p.Arg295=)
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg) rs1554735509
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=) rs1554741933
NM_001130438.3(SPTAN1):c.930+10A>C
NM_001130438.3(SPTAN1):c.930+11C>T
NM_001130438.3(SPTAN1):c.930+20G>A
NM_001130438.3(SPTAN1):c.931-15G>A
NM_001130438.3(SPTAN1):c.939C>G (p.Ala313=)
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=) rs2131014238
NM_001130438.3(SPTAN1):c.961C>T (p.Leu321=) rs1589189237
NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=) rs1589149611
NM_001130438.3(SPTAN1):c.996T>C (p.Ile332=) rs2131015101
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
NM_001165963.4(SCN1A):c.1003C>T (p.Leu335=) rs2105874226
NM_001165963.4(SCN1A):c.1028+13T>A
NM_001165963.4(SCN1A):c.1029-15T>C rs2105868517
NM_001165963.4(SCN1A):c.1029-4G>T rs1225581069
NM_001165963.4(SCN1A):c.1029-7C>A rs1698033637
NM_001165963.4(SCN1A):c.102A>G (p.Ala34=)
NM_001165963.4(SCN1A):c.1038A>G (p.Pro346=) rs1374190185
NM_001165963.4(SCN1A):c.1044A>T (p.Gly348=)
NM_001165963.4(SCN1A):c.1047T>C (p.Tyr349=)
NM_001165963.4(SCN1A):c.1065T>A (p.Gly355=)
NM_001165963.4(SCN1A):c.109C>A (p.Pro37Thr) rs1468825512
NM_001165963.4(SCN1A):c.1134A>G (p.Leu378=) rs2105867022
NM_001165963.4(SCN1A):c.114A>G (p.Lys38=)
NM_001165963.4(SCN1A):c.1170+9T>C rs2105866448
NM_001165963.4(SCN1A):c.1171-18T>A
NM_001165963.4(SCN1A):c.1171-20T>C
NM_001165963.4(SCN1A):c.1171-20T>G
NM_001165963.4(SCN1A):c.1171-4G>A
NM_001165963.4(SCN1A):c.1171-6T>C
NM_001165963.4(SCN1A):c.118G>A (p.Asp40Asn) rs1574373061
NM_001165963.4(SCN1A):c.119A>G (p.Asp40Gly) rs1684688433
NM_001165963.4(SCN1A):c.1230C>A (p.Gly410=) rs2105862320
NM_001165963.4(SCN1A):c.1240C>T (p.Leu414=) rs1330025518
NM_001165963.4(SCN1A):c.1255C>T (p.Leu419=)
NM_001165963.4(SCN1A):c.1314A>G (p.Glu438=) rs2105861442
NM_001165963.4(SCN1A):c.1317G>A (p.Gln439=)
NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.4(SCN1A):c.1344T>C (p.Ile448=)
NM_001165963.4(SCN1A):c.1350G>A (p.Gln450=) rs1574233590
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=) rs201985242
NM_001165963.4(SCN1A):c.1377+12C>T
NM_001165963.4(SCN1A):c.1377+20T>C rs1178022374
NM_001165963.4(SCN1A):c.1377+9G>T
NM_001165963.4(SCN1A):c.1389G>T (p.Thr463=)
NM_001165963.4(SCN1A):c.1390G>C (p.Ala464Pro)
NM_001165963.4(SCN1A):c.141T>C (p.Asn47=) rs377274282
NM_001165963.4(SCN1A):c.1431C>G (p.Gly477=)
NM_001165963.4(SCN1A):c.1435C>A (p.Leu479Ile) rs1553545770
NM_001165963.4(SCN1A):c.144C>A (p.Gly48=) rs886043534
NM_001165963.4(SCN1A):c.1458C>T (p.Ala486=)
NM_001165963.4(SCN1A):c.1485G>A (p.Lys495=)
NM_001165963.4(SCN1A):c.1500G>C (p.Arg500=) rs2105851628
NM_001165963.4(SCN1A):c.1512A>G (p.Arg504=) rs1233541206
NM_001165963.4(SCN1A):c.1536G>A (p.Gly512=)
NM_001165963.4(SCN1A):c.153A>G (p.Pro51=)
NM_001165963.4(SCN1A):c.1545A>G (p.Lys515=)
NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=) rs1057524611
NM_001165963.4(SCN1A):c.1550A>G (p.Glu517Gly)
NM_001165963.4(SCN1A):c.1608C>T (p.Phe536=)
NM_001165963.4(SCN1A):c.1613T>C (p.Ile538Thr) rs903052740
NM_001165963.4(SCN1A):c.1632A>G (p.Thr544=)
NM_001165963.4(SCN1A):c.1663-15C>A
NM_001165963.4(SCN1A):c.1663-18G>A
NM_001165963.4(SCN1A):c.1663-4C>G
NM_001165963.4(SCN1A):c.1668G>A (p.Leu556=) rs762975379
NM_001165963.4(SCN1A):c.1695A>T (p.Ser565=)
NM_001165963.4(SCN1A):c.1738C>A (p.Arg580=) rs794726736
NM_001165963.4(SCN1A):c.1755A>G (p.Gly585=)
NM_001165963.4(SCN1A):c.1764C>T (p.Asn588=) rs1026954517
NM_001165963.4(SCN1A):c.180C>T (p.Asn60=) rs746510690
NM_001165963.4(SCN1A):c.1815A>G (p.Arg605=)
NM_001165963.4(SCN1A):c.1821C>G (p.Ser607=) rs1574217006
NM_001165963.4(SCN1A):c.1821C>T (p.Ser607=)
NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln) rs755323236
NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg)
NM_001165963.4(SCN1A):c.1857C>T (p.Asn619=)
NM_001165963.4(SCN1A):c.1869T>C (p.Ser623=)
NM_001165963.4(SCN1A):c.1875C>A (p.Thr625=) rs1423227098
NM_001165963.4(SCN1A):c.1908A>G (p.Pro636=)
NM_001165963.4(SCN1A):c.1959G>A (p.Leu653=)
NM_001165963.4(SCN1A):c.1975G>C (p.Val659Leu) rs1559215483
NM_001165963.4(SCN1A):c.1985C>T (p.Ser662Leu)
NM_001165963.4(SCN1A):c.1986G>C (p.Ser662=)
NM_001165963.4(SCN1A):c.2037T>C (p.Asp679=)
NM_001165963.4(SCN1A):c.2043+7A>C
NM_001165963.4(SCN1A):c.2044-4A>T rs2105835899
NM_001165963.4(SCN1A):c.2044-4dup
NM_001165963.4(SCN1A):c.204T>C (p.Ile68=) rs2105982539
NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys)
NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile) rs1260934774
NM_001165963.4(SCN1A):c.2119C>T (p.Pro707Ser)
NM_001165963.4(SCN1A):c.2127A>G (p.Gln709=)
NM_001165963.4(SCN1A):c.2160A>G (p.Leu720=) rs2105834784
NM_001165963.4(SCN1A):c.2166T>C (p.Asn722=) rs1574208553
NM_001165963.4(SCN1A):c.2170G>C (p.Val724Leu) rs771260698
NM_001165963.4(SCN1A):c.2176+9C>A
NM_001165963.4(SCN1A):c.2177-14T>C rs2105830037
NM_001165963.4(SCN1A):c.2177-19_2177-18insTG
NM_001165963.4(SCN1A):c.2278G>A (p.Val760Ile) rs1574203036
NM_001165963.4(SCN1A):c.2278G>C (p.Val760Leu) rs1574203036
NM_001165963.4(SCN1A):c.2284A>C (p.Asn762His) rs2105828579
NM_001165963.4(SCN1A):c.2314C>T (p.Leu772=)
NM_001165963.4(SCN1A):c.2322C>A (p.Ile774=) rs752067973
NM_001165963.4(SCN1A):c.2343T>C (p.Asn781=) rs1574202373
NM_001165963.4(SCN1A):c.2346T>C (p.Thr782=) rs1441123414
NM_001165963.4(SCN1A):c.2349T>G (p.Leu783=) rs1553543221
NM_001165963.4(SCN1A):c.234G>A (p.Glu78=)
NM_001165963.4(SCN1A):c.2364G>A (p.Glu788=) rs1574201998
NM_001165963.4(SCN1A):c.2370T>C (p.Tyr790=) rs1350896451
NM_001165963.4(SCN1A):c.2385T>C (p.His795=)
NM_001165963.4(SCN1A):c.2391T>C (p.Asn797=)
NM_001165963.4(SCN1A):c.2412C>T (p.Asn804=) rs2105827258
NM_001165963.4(SCN1A):c.2415+19A>C rs2105827090
NM_001165963.4(SCN1A):c.2415+20A>G
NM_001165963.4(SCN1A):c.2415+8T>C rs1064797265
NM_001165963.4(SCN1A):c.2415+9A>G rs2105827142
NM_001165963.4(SCN1A):c.2416-17T>C
NM_001165963.4(SCN1A):c.2416-4T>G rs398123587
NM_001165963.4(SCN1A):c.2418T>A (p.Val806=)
NM_001165963.4(SCN1A):c.2427G>A (p.Gly809=)
NM_001165963.4(SCN1A):c.2433T>C (p.Phe811=)
NM_001165963.4(SCN1A):c.2449C>T (p.Leu817=)
NM_001165963.4(SCN1A):c.2475C>T (p.Tyr825=) rs1696880667
NM_001165963.4(SCN1A):c.2499T>C (p.Asn833=) rs1574192902
NM_001165963.4(SCN1A):c.2511T>C (p.Gly837=)
NM_001165963.4(SCN1A):c.2589+17A>C rs1696857207
NM_001165963.4(SCN1A):c.2589+17_2589+18insAAC rs2105816129
NM_001165963.4(SCN1A):c.2589+18_2589+20del rs766413788
NM_001165963.4(SCN1A):c.2589+9A>G
NM_001165963.4(SCN1A):c.2590-24_2590-19del rs1406361677
NM_001165963.4(SCN1A):c.2607G>A (p.Leu869=)
NM_001165963.4(SCN1A):c.2637A>G (p.Leu879=)
NM_001165963.4(SCN1A):c.264+12T>C
NM_001165963.4(SCN1A):c.265-20G>T
NM_001165963.4(SCN1A):c.265-6_265-5insTG rs2105918730
NM_001165963.4(SCN1A):c.265-7C>T rs761608983
NM_001165963.4(SCN1A):c.265-9G>A
NM_001165963.4(SCN1A):c.2661G>C (p.Val887=)
NM_001165963.4(SCN1A):c.2667T>G (p.Ala889=)
NM_001165963.4(SCN1A):c.2670G>A (p.Leu890=)
NM_001165963.4(SCN1A):c.2670G>C (p.Leu890=) rs760568616
NM_001165963.4(SCN1A):c.267T>A (p.Thr89=)
NM_001165963.4(SCN1A):c.2703C>A (p.Val901=)
NM_001165963.4(SCN1A):c.2733C>A (p.Leu911=) rs2105807567
NM_001165963.4(SCN1A):c.2754T>C (p.Asp918=) rs2105807413
NM_001165963.4(SCN1A):c.2757T>C (p.Cys919=) rs1553541344
NM_001165963.4(SCN1A):c.2835C>T (p.Phe945=) rs1696628056
NM_001165963.4(SCN1A):c.2883G>A (p.Glu961=)
NM_001165963.4(SCN1A):c.2947-12del
NM_001165963.4(SCN1A):c.2947-20A>C rs374476805
NM_001165963.4(SCN1A):c.294C>A (p.Ala98=)
NM_001165963.4(SCN1A):c.2964G>A (p.Leu988=)
NM_001165963.4(SCN1A):c.2970G>A (p.Leu990=) rs897883046
NM_001165963.4(SCN1A):c.2976G>A (p.Leu992=)
NM_001165963.4(SCN1A):c.2976G>T (p.Leu992=) rs1251469901
NM_001165963.4(SCN1A):c.297C>T (p.Ile99=)
NM_001165963.4(SCN1A):c.3018T>C (p.Asp1006=) rs375909896
NM_001165963.4(SCN1A):c.303G>A (p.Arg101=)
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.3051T>C (p.Asp1017=)
NM_001165963.4(SCN1A):c.3066A>G (p.Gly1022=) rs1696380602
NM_001165963.4(SCN1A):c.3111C>A (p.Ser1037=) rs1204620691
NM_001165963.4(SCN1A):c.312C>A (p.Ala104=) rs771566556
NM_001165963.4(SCN1A):c.312C>T (p.Ala104=)
NM_001165963.4(SCN1A):c.3144T>C (p.Ile1048=)
NM_001165963.4(SCN1A):c.3150A>G (p.Pro1050=)
NM_001165963.4(SCN1A):c.3165C>A (p.Asn1055Lys) rs797045939
NM_001165963.4(SCN1A):c.318T>C (p.Ser106=)
NM_001165963.4(SCN1A):c.3201A>C (p.Ala1067=) rs1376202812
NM_001165963.4(SCN1A):c.3201A>G (p.Ala1067=)
NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly) rs1553540263
NM_001165963.4(SCN1A):c.3264T>C (p.Thr1088=) rs1696342389
NM_001165963.4(SCN1A):c.3324C>T (p.Asn1108=) rs2105794049
NM_001165963.4(SCN1A):c.3342T>C (p.Thr1114=)
NM_001165963.4(SCN1A):c.3342T>G (p.Thr1114=) rs904226939
NM_001165963.4(SCN1A):c.3345A>T (p.Val1115=) rs759998380
NM_001165963.4(SCN1A):c.3372T>G (p.Phe1124Leu) rs1424688990
NM_001165963.4(SCN1A):c.3396T>C (p.Phe1132=)
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=) rs796052954
NM_001165963.4(SCN1A):c.3423C>T (p.Ser1141=) rs1696301764
NM_001165963.4(SCN1A):c.3429+14G>C rs1462589860
NM_001165963.4(SCN1A):c.3429+20G>A
NM_001165963.4(SCN1A):c.3430-13A>C
NM_001165963.4(SCN1A):c.3430-18T>C
NM_001165963.4(SCN1A):c.3430-6T>C
NM_001165963.4(SCN1A):c.3430-7C>A rs975085305
NM_001165963.4(SCN1A):c.3449G>A (p.Ser1150Asn)
NM_001165963.4(SCN1A):c.3462T>C (p.Gly1154=) rs2105630006
NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=) rs369594817
NM_001165963.4(SCN1A):c.3483A>C (p.Ala1161=)
NM_001165963.4(SCN1A):c.3504A>G (p.Val1168=)
NM_001165963.4(SCN1A):c.3506T>G (p.Val1169Gly) rs1380673643
NM_001165963.4(SCN1A):c.354G>A (p.Arg118=) rs121917959
NM_001165963.4(SCN1A):c.3550+18A>C rs866995453
NM_001165963.4(SCN1A):c.3550+18A>G
NM_001165963.4(SCN1A):c.3550+20T>C rs1693162810
NM_001165963.4(SCN1A):c.3550+8A>C
NM_001165963.4(SCN1A):c.3551-12C>T rs1692905818
NM_001165963.4(SCN1A):c.3551-18T>C
NM_001165963.4(SCN1A):c.3552C>T (p.Gly1184=) rs1574061760
NM_001165963.4(SCN1A):c.3582C>T (p.Ile1194=) rs2105611470
NM_001165963.4(SCN1A):c.3609A>G (p.Gln1203=) rs2105611013
NM_001165963.4(SCN1A):c.3618C>T (p.Asn1206=)
NM_001165963.4(SCN1A):c.3621G>T (p.Leu1207=)
NM_001165963.4(SCN1A):c.3669C>T (p.Phe1223=) rs1574060392
NM_001165963.4(SCN1A):c.3684T>A (p.Ile1228=)
NM_001165963.4(SCN1A):c.3705+18A>G
NM_001165963.4(SCN1A):c.3706-14C>T rs1692589493
NM_001165963.4(SCN1A):c.3706-18G>A
NM_001165963.4(SCN1A):c.3706-3T>C rs1281873956
NM_001165963.4(SCN1A):c.3724A>G (p.Ile1242Val) rs2105593894
NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=) rs771494149
NM_001165963.4(SCN1A):c.3762T>C (p.Tyr1254=)
NM_001165963.4(SCN1A):c.3768C>T (p.Asp1256=) rs2105593083
NM_001165963.4(SCN1A):c.3774T>G (p.Val1258=)
NM_001165963.4(SCN1A):c.3783C>T (p.Tyr1261=)
NM_001165963.4(SCN1A):c.3793C>T (p.Leu1265=)
NM_001165963.4(SCN1A):c.3822T>C (p.Tyr1274=)
NM_001165963.4(SCN1A):c.383+13A>T rs2105917631
NM_001165963.4(SCN1A):c.383+7T>C rs1553553397
NM_001165963.4(SCN1A):c.3834A>G (p.Thr1278=) rs757206525
NM_001165963.4(SCN1A):c.384-10_384-5del rs1574291168
NM_001165963.4(SCN1A):c.384-16C>T
NM_001165963.4(SCN1A):c.384-5C>A
NM_001165963.4(SCN1A):c.384-5C>T rs781505393
NM_001165963.4(SCN1A):c.384-8T>A rs2105910106
NM_001165963.4(SCN1A):c.3846T>C (p.Asn1282=)
NM_001165963.4(SCN1A):c.3879+12T>A
NM_001165963.4(SCN1A):c.3879+19T>C
NM_001165963.4(SCN1A):c.3880-10G>C rs886055043
NM_001165963.4(SCN1A):c.3880-15T>C
NM_001165963.4(SCN1A):c.3885A>T (p.Ser1295=)
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met) rs375896308
NM_001165963.4(SCN1A):c.3951A>G (p.Thr1317=)
NM_001165963.4(SCN1A):c.3954A>G (p.Leu1318=) rs2105570166
NM_001165963.4(SCN1A):c.3961C>T (p.Leu1321=) rs2105570052
NM_001165963.4(SCN1A):c.396G>T (p.Met132Ile) rs1699153534
NM_001165963.4(SCN1A):c.397C>G (p.Leu133Val) rs1553552411
NM_001165963.4(SCN1A):c.3996G>A (p.Gly1332=)
NM_001165963.4(SCN1A):c.4002+14A>C
NM_001165963.4(SCN1A):c.4002+1960A>G
NM_001165963.4(SCN1A):c.4002+1965C>T rs2105551111
NM_001165963.4(SCN1A):c.4002+1979G>A
NM_001165963.4(SCN1A):c.4002+1983T>C
NM_001165963.4(SCN1A):c.4002+1985del rs2105550969
NM_001165963.4(SCN1A):c.4002+1992T>C
NM_001165963.4(SCN1A):c.4002+1997C>T
NM_001165963.4(SCN1A):c.4002+19C>T rs1692150049
NM_001165963.4(SCN1A):c.4002+2005G>A
NM_001165963.4(SCN1A):c.4002+2008C>T
NM_001165963.4(SCN1A):c.4002+2022T>C
NM_001165963.4(SCN1A):c.4002+2025T>G
NM_001165963.4(SCN1A):c.4002+2033G>C
NM_001165963.4(SCN1A):c.4002+2042A>G
NM_001165963.4(SCN1A):c.4002+2044A>G
NM_001165963.4(SCN1A):c.4002+2051G>C
NM_001165963.4(SCN1A):c.4002+2057_4002+2059del rs1192335240
NM_001165963.4(SCN1A):c.4002+2062A>G rs1691837819
NM_001165963.4(SCN1A):c.4002+2063G>T rs2105550345
NM_001165963.4(SCN1A):c.4002+2070A>G
NM_001165963.4(SCN1A):c.4002+2073A>C
NM_001165963.4(SCN1A):c.4002+2076_4002+2079del rs1259590393
NM_001165963.4(SCN1A):c.4002+2085_4002+2087del
NM_001165963.4(SCN1A):c.4002+2089G>A
NM_001165963.4(SCN1A):c.4002+2089G>T rs539034474
NM_001165963.4(SCN1A):c.4002+2095C>T
NM_001165963.4(SCN1A):c.4002+2097T>C rs2105550019
NM_001165963.4(SCN1A):c.4002+2098T>C rs182825244
NM_001165963.4(SCN1A):c.4002+2098T>G
NM_001165963.4(SCN1A):c.4002+2098del rs768145184
NM_001165963.4(SCN1A):c.4002+2099G>T
NM_001165963.4(SCN1A):c.4002+20C>T
NM_001165963.4(SCN1A):c.4002+2107C>T rs2105549912
NM_001165963.4(SCN1A):c.4002+2109T>C
NM_001165963.4(SCN1A):c.4002+2118C>T rs2105549796
NM_001165963.4(SCN1A):c.4002+2119A>G
NM_001165963.4(SCN1A):c.4002+2128G>T
NM_001165963.4(SCN1A):c.4002+2130T>C
NM_001165963.4(SCN1A):c.4002+2144C>T
NM_001165963.4(SCN1A):c.4002+2147T>G
NM_001165963.4(SCN1A):c.4002+2151T>C rs2105549480
NM_001165963.4(SCN1A):c.4002+2155T>C
NM_001165963.4(SCN1A):c.4002+2161A>G rs886825546
NM_001165963.4(SCN1A):c.4002+2171C>A
NM_001165963.4(SCN1A):c.4002+2182A>G
NM_001165963.4(SCN1A):c.4002+2184T>C
NM_001165963.4(SCN1A):c.4002+2184T>G
NM_001165963.4(SCN1A):c.4002+2203G>A rs1375615632
NM_001165963.4(SCN1A):c.4002+2206T>A rs927311502
NM_001165963.4(SCN1A):c.4002+2206T>C rs927311502
NM_001165963.4(SCN1A):c.4002+2213_4002+2215del
NM_001165963.4(SCN1A):c.4002+2242T>C
NM_001165963.4(SCN1A):c.4002+2253G>A
NM_001165963.4(SCN1A):c.4002+2260T>C
NM_001165963.4(SCN1A):c.4002+2261A>G
NM_001165963.4(SCN1A):c.4002+2264T>C
NM_001165963.4(SCN1A):c.4002+2267C>T rs1009086858
NM_001165963.4(SCN1A):c.4002+2272C>G rs2105548669
NM_001165963.4(SCN1A):c.4002+2273T>C
NM_001165963.4(SCN1A):c.4002+2276G>C
NM_001165963.4(SCN1A):c.4002+2281_4002+2287del
NM_001165963.4(SCN1A):c.4002+2289C>A
NM_001165963.4(SCN1A):c.4002+2298T>C
NM_001165963.4(SCN1A):c.4002+2304G>T
NM_001165963.4(SCN1A):c.4002+2305_4002+2312dup rs2105548367
NM_001165963.4(SCN1A):c.4002+2310_4002+2311dup
NM_001165963.4(SCN1A):c.4002+2320G>A rs577323922
NM_001165963.4(SCN1A):c.4002+2342C>T
NM_001165963.4(SCN1A):c.4002+2347T>C
NM_001165963.4(SCN1A):c.4002+2347T>G rs1476753090
NM_001165963.4(SCN1A):c.4002+2349A>T rs2105547965
NM_001165963.4(SCN1A):c.4002+2352A>C rs2105547919
NM_001165963.4(SCN1A):c.4002+2358T>C
NM_001165963.4(SCN1A):c.4002+2361C>T rs2105547851
NM_001165963.4(SCN1A):c.4002+2364C>T
NM_001165963.4(SCN1A):c.4002+2369G>A
NM_001165963.4(SCN1A):c.4002+2388CTAA[3]
NM_001165963.4(SCN1A):c.4002+2393T>C rs2105547616
NM_001165963.4(SCN1A):c.4002+2395_4002+2398dup
NM_001165963.4(SCN1A):c.4002+2401A>G
NM_001165963.4(SCN1A):c.4002+2404T>C rs754877109
NM_001165963.4(SCN1A):c.4002+2407A>C
NM_001165963.4(SCN1A):c.4002+2410T>C
NM_001165963.4(SCN1A):c.4002+2420G>A
NM_001165963.4(SCN1A):c.4002+2421T>C
NM_001165963.4(SCN1A):c.4002+2430_4002+2432dup rs2105547380
NM_001165963.4(SCN1A):c.4002+2439C>A rs2105547332
NM_001165963.4(SCN1A):c.4002+2450G>A
NM_001165963.4(SCN1A):c.4002+2458C>T rs2105547203
NM_001165963.4(SCN1A):c.4002+2459G>A
NM_001165963.4(SCN1A):c.4002+2467C>T
NM_001165963.4(SCN1A):c.4002+2499T>C
NM_001165963.4(SCN1A):c.4002+2499T>G
NM_001165963.4(SCN1A):c.4002+2501C>T
NM_001165963.4(SCN1A):c.4002+2509G>A
NM_001165963.4(SCN1A):c.4002+2510del
NM_001165963.4(SCN1A):c.4002+2519A>G
NM_001165963.4(SCN1A):c.4002+2532G>A
NM_001165963.4(SCN1A):c.4002+2537A>T
NM_001165963.4(SCN1A):c.4002+2538T>C
NM_001165963.4(SCN1A):c.4002+2544G>C
NM_001165963.4(SCN1A):c.4002+2545T>C
NM_001165963.4(SCN1A):c.4002+2548G>T
NM_001165963.4(SCN1A):c.4002+2557G>T
NM_001165963.4(SCN1A):c.4002+2563G>A
NM_001165963.4(SCN1A):c.4002+2565G>A
NM_001165963.4(SCN1A):c.4002+2569G>T
NM_001165963.4(SCN1A):c.4002+2576T>C
NM_001165963.4(SCN1A):c.4002+2577T>A rs1691773795
NM_001165963.4(SCN1A):c.4002+2579T>A rs947601907
NM_001165963.4(SCN1A):c.4002+2579T>C
NM_001165963.4(SCN1A):c.4002+2588A>C
NM_001165963.4(SCN1A):c.4002+2589G>A
NM_001165963.4(SCN1A):c.4002+2590T>C rs1574027484
NM_001165963.4(SCN1A):c.4002+2592G>A
NM_001165963.4(SCN1A):c.4002+2600A>C
NM_001165963.4(SCN1A):c.4002+2600A>G
NM_001165963.4(SCN1A):c.4002+2614C>T
NM_001165963.4(SCN1A):c.4002+2623T>C rs2105545931
NM_001165963.4(SCN1A):c.4002+2624C>G
NM_001165963.4(SCN1A):c.4002+2627_4002+2628del rs1462666494
NM_001165963.4(SCN1A):c.4002+2634G>A
NM_001165963.4(SCN1A):c.4002+2635T>C
NM_001165963.4(SCN1A):c.4002+2636C>T
NM_001165963.4(SCN1A):c.4002+2649T>G
NM_001165963.4(SCN1A):c.4002+2649del
NM_001165963.4(SCN1A):c.4003-6T>G
NM_001165963.4(SCN1A):c.4003-7G>A rs1334990688
NM_001165963.4(SCN1A):c.4005G>A (p.Val1335=)
NM_001165963.4(SCN1A):c.4017C>T (p.Ala1339=) rs2105510596
NM_001165963.4(SCN1A):c.4020T>C (p.Leu1340=) rs1691091194
NM_001165963.4(SCN1A):c.4035A>G (p.Pro1345=)
NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=) rs2105510228
NM_001165963.4(SCN1A):c.4095C>G (p.Gly1365=) rs372749240
NM_001165963.4(SCN1A):c.4104G>A (p.Leu1368=)
NM_001165963.4(SCN1A):c.4119C>T (p.Phe1373=) rs2105509444
NM_001165963.4(SCN1A):c.4134C>T (p.Asn1378=)
NM_001165963.4(SCN1A):c.4146T>C (p.Gly1382=) rs1574005667
NM_001165963.4(SCN1A):c.4158C>T (p.Asp1386=)
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val) rs764507532
NM_001165963.4(SCN1A):c.4170G>C (p.Val1390=) rs1474333400
NM_001165963.4(SCN1A):c.4218T>A (p.Ala1406=)
NM_001165963.4(SCN1A):c.4257A>T (p.Gly1419=) rs2105507859
NM_001165963.4(SCN1A):c.4263G>C (p.Gly1421=)
NM_001165963.4(SCN1A):c.4284+7G>T
NM_001165963.4(SCN1A):c.4285-12C>T
NM_001165963.4(SCN1A):c.4335A>G (p.Arg1445=) rs2105486418
NM_001165963.4(SCN1A):c.4338+17T>A
NM_001165963.4(SCN1A):c.4338+19C>T rs2105486220
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=) rs1573984787
NM_001165963.4(SCN1A):c.4392T>C (p.Val1464=)
NM_001165963.4(SCN1A):c.4401C>T (p.Ile1467=) rs1690335252
NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=) rs398123596
NM_001165963.4(SCN1A):c.4476+14del
NM_001165963.4(SCN1A):c.4476+16A>G
NM_001165963.4(SCN1A):c.4477-11C>T rs775315152
NM_001165963.4(SCN1A):c.4477-20T>C rs2105463114
NM_001165963.4(SCN1A):c.4477-4A>G rs2105462878
NM_001165963.4(SCN1A):c.4477-7T>G rs2105462945
NM_001165963.4(SCN1A):c.447C>T (p.Asn149=) rs1484003948
NM_001165963.4(SCN1A):c.4482A>G (p.Gly1494=) rs2105462751
NM_001165963.4(SCN1A):c.4503A>C (p.Thr1501=) rs1326158259
NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=) rs750997506
NM_001165963.4(SCN1A):c.4539A>G (p.Lys1513=) rs2105462034
NM_001165963.4(SCN1A):c.4540T>C (p.Leu1514=)
NM_001165963.4(SCN1A):c.456T>C (p.Asp152=) rs2105909589
NM_001165963.4(SCN1A):c.4573C>A (p.Arg1525=) rs794726752
NM_001165963.4(SCN1A):c.4578A>G (p.Pro1526=)
NM_001165963.4(SCN1A):c.4581+11T>C
NM_001165963.4(SCN1A):c.4581+7A>G rs1689984075
NM_001165963.4(SCN1A):c.4582-14C>A
NM_001165963.4(SCN1A):c.4582-9del rs1689727784
NM_001165963.4(SCN1A):c.4584C>T (p.Asn1528=)
NM_001165963.4(SCN1A):c.4599G>T (p.Met1533Ile) rs2105449769
NM_001165963.4(SCN1A):c.4611C>T (p.Phe1537=)
NM_001165963.4(SCN1A):c.4629T>C (p.Phe1543=) rs1329723137
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=) rs1057521371
NM_001165963.4(SCN1A):c.4650C>T (p.Leu1550=) rs2105449280
NM_001165963.4(SCN1A):c.4680G>A (p.Val1560=) rs1014933161
NM_001165963.4(SCN1A):c.473+11C>T rs764054718
NM_001165963.4(SCN1A):c.473+17T>C
NM_001165963.4(SCN1A):c.474-10T>C
NM_001165963.4(SCN1A):c.474-15G>T rs2105902861
NM_001165963.4(SCN1A):c.474-16G>C
NM_001165963.4(SCN1A):c.4749A>T (p.Leu1583=) rs2105448280
NM_001165963.4(SCN1A):c.4767A>C (p.Val1589=)
NM_001165963.4(SCN1A):c.4788C>A (p.Arg1596=) rs762836573
NM_001165963.4(SCN1A):c.4803C>A (p.Thr1601=)
NM_001165963.4(SCN1A):c.4852+11T>G rs746573662
NM_001165963.4(SCN1A):c.4852+17G>T
NM_001165963.4(SCN1A):c.4853-12G>A rs2105435765
NM_001165963.4(SCN1A):c.4853-13T>C
NM_001165963.4(SCN1A):c.4853-13del rs1689384635
NM_001165963.4(SCN1A):c.4853-16C>T
NM_001165963.4(SCN1A):c.4863T>A (p.Leu1621=) rs2105435563
NM_001165963.4(SCN1A):c.4920T>C (p.Leu1640=) rs1573952959
NM_001165963.4(SCN1A):c.4938C>T (p.Ile1646=)
NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=)
NM_001165963.4(SCN1A):c.4965G>A (p.Gly1655=)
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
NM_001165963.4(SCN1A):c.5010G>A (p.Leu1670=)
NM_001165963.4(SCN1A):c.5019C>A (p.Ile1673=) rs757002972
NM_001165963.4(SCN1A):c.5019C>T (p.Ile1673=) rs757002972
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=) rs1689327411
NM_001165963.4(SCN1A):c.5064G>A (p.Gly1688=)
NM_001165963.4(SCN1A):c.5073C>T (p.Asn1691=)
NM_001165963.4(SCN1A):c.5085T>G (p.Val1695=) rs2105432702
NM_001165963.4(SCN1A):c.5100G>A (p.Gly1700=) rs1689304358
NM_001165963.4(SCN1A):c.5103C>T (p.Ile1701=)
NM_001165963.4(SCN1A):c.5124G>A (p.Glu1708=)
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=) rs777044331
NM_001165963.4(SCN1A):c.5196C>T (p.Pro1732=)
NM_001165963.4(SCN1A):c.5205C>T (p.Asn1735=) rs2105431102
NM_001165963.4(SCN1A):c.522T>C (p.Ile174=)
NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=) rs2105430607
NM_001165963.4(SCN1A):c.5250C>T (p.Ser1750=) rs1689264252
NM_001165963.4(SCN1A):c.5283T>G (p.Val1761=) rs1573948237
NM_001165963.4(SCN1A):c.5289T>A (p.Ile1763=)
NM_001165963.4(SCN1A):c.5304T>C (p.Ser1768=)
NM_001165963.4(SCN1A):c.5313C>T (p.Ile1771=)
NM_001165963.4(SCN1A):c.531A>T (p.Gly177=)
NM_001165963.4(SCN1A):c.5352C>T (p.Val1784=)
NM_001165963.4(SCN1A):c.5361G>A (p.Glu1787=) rs796053038
NM_001165963.4(SCN1A):c.5379T>C (p.Thr1793=) rs1553520152
NM_001165963.4(SCN1A):c.5427T>C (p.Tyr1809=)
NM_001165963.4(SCN1A):c.5442G>A (p.Lys1814=) rs144595013
NM_001165963.4(SCN1A):c.5457A>T (p.Ala1819=)
NM_001165963.4(SCN1A):c.546T>C (p.Asp182=)
NM_001165963.4(SCN1A):c.5490G>A (p.Gln1830=)
NM_001165963.4(SCN1A):c.5560T>C (p.Leu1854=) rs1452952636
NM_001165963.4(SCN1A):c.5581C>A (p.Arg1861=)
NM_001165963.4(SCN1A):c.5598T>C (p.Asp1866=) rs2105425631
NM_001165963.4(SCN1A):c.5610T>A (p.Ala1870=) rs1403005079
NM_001165963.4(SCN1A):c.5610T>G (p.Ala1870=)
NM_001165963.4(SCN1A):c.5634G>A (p.Glu1878=) rs748090629
NM_001165963.4(SCN1A):c.5634G>T (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5643G>A (p.Glu1881=)
NM_001165963.4(SCN1A):c.5664G>A (p.Gln1888=)
NM_001165963.4(SCN1A):c.5688C>T (p.Ser1896=)
NM_001165963.4(SCN1A):c.5701G>A (p.Val1901Ile) rs1689155302
NM_001165963.4(SCN1A):c.5702T>G (p.Val1901Gly) rs1559100042
NM_001165963.4(SCN1A):c.5751A>G (p.Val1917=) rs1173785519
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) rs376669368
NM_001165963.4(SCN1A):c.5781A>G (p.Arg1927=) rs2105423230
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=) rs1351809843
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln) rs556893466
NM_001165963.4(SCN1A):c.5820T>C (p.Phe1940=) rs2105422699
NM_001165963.4(SCN1A):c.5841C>A (p.Ile1947=)
NM_001165963.4(SCN1A):c.5907T>C (p.Ile1969=)
NM_001165963.4(SCN1A):c.5913A>G (p.Glu1971=)
NM_001165963.4(SCN1A):c.5979T>C (p.Ile1993=)
NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg) rs1573939967
NM_001165963.4(SCN1A):c.5994G>A (p.Glu1998=)
NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=)
NM_001165963.4(SCN1A):c.6015A>G (p.Lys2005=)
NM_001165963.4(SCN1A):c.603-12T>G
NM_001165963.4(SCN1A):c.603-12_603-11insTA
NM_001165963.4(SCN1A):c.603-23TG[3] rs2105895518
NM_001165963.4(SCN1A):c.612A>G (p.Thr204=) rs2105895390
NM_001165963.4(SCN1A):c.642A>G (p.Ala214=)
NM_001165963.4(SCN1A):c.648A>G (p.Arg216=) rs2105895159
NM_001165963.4(SCN1A):c.66T>C (p.Leu22=) rs2105983989
NM_001165963.4(SCN1A):c.675G>A (p.Lys225=) rs794726719
NM_001165963.4(SCN1A):c.694+17A>G
NM_001165963.4(SCN1A):c.694+18T>C rs2105894631
NM_001165963.4(SCN1A):c.694+7G>A
NM_001165963.4(SCN1A):c.696C>T (p.Gly232=)
NM_001165963.4(SCN1A):c.717C>A (p.Ala239=) rs759923734
NM_001165963.4(SCN1A):c.747T>C (p.Asp249=)
NM_001165963.4(SCN1A):c.750A>G (p.Val250=)
NM_001165963.4(SCN1A):c.762T>C (p.Thr254=) rs1158359748
NM_001165963.4(SCN1A):c.768C>T (p.Phe256=)
NM_001165963.4(SCN1A):c.774G>A (p.Leu258=)
NM_001165963.4(SCN1A):c.780A>G (p.Val260=)
NM_001165963.4(SCN1A):c.802C>T (p.Leu268=) rs2105889931
NM_001165963.4(SCN1A):c.816C>T (p.Asn272=) rs1553549713
NM_001165963.4(SCN1A):c.831T>C (p.Cys277=) rs1553549683
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434
NM_001165963.4(SCN1A):c.861G>A (p.Leu287=) rs568461410
NM_001165963.4(SCN1A):c.895A>G (p.Asn299Asp) rs1262121352
NM_001165963.4(SCN1A):c.907A>T (p.Thr303Ser) rs774358847
NM_001165963.4(SCN1A):c.914T>C (p.Ile305Thr)
NM_001165963.4(SCN1A):c.926T>A (p.Val309Asp) rs748918170
NM_001165963.4(SCN1A):c.932A>G (p.Glu311Gly) rs1574263480
NM_001165963.4(SCN1A):c.945G>A (p.Lys315=) rs2105888618
NM_001165963.4(SCN1A):c.964+10_964+12del
NM_001165963.4(SCN1A):c.965-12T>G rs1396858729
NM_001165963.4(SCN1A):c.965-14_965-11del
NM_001165963.4(SCN1A):c.965-15T>C
NM_001165963.4(SCN1A):c.984G>A (p.Glu328=)
NM_001191061.2(SLC25A22):c.105G>A (p.Arg35=) rs1292194098
NM_001191061.2(SLC25A22):c.111G>A (p.Gln37=)
NM_001191061.2(SLC25A22):c.114C>T (p.Asn38=) rs1565039954
NM_001191061.2(SLC25A22):c.117G>A (p.Gln39=)
NM_001191061.2(SLC25A22):c.129G>A (p.Gln43=) rs2133713161
NM_001191061.2(SLC25A22):c.12G>A (p.Lys4=)
NM_001191061.2(SLC25A22):c.133G>T (p.Val45Leu)
NM_001191061.2(SLC25A22):c.141G>A (p.Thr47=) rs781681487
NM_001191061.2(SLC25A22):c.146+10C>T
NM_001191061.2(SLC25A22):c.146+15C>T
NM_001191061.2(SLC25A22):c.146+16G>A
NM_001191061.2(SLC25A22):c.146+19C>T
NM_001191061.2(SLC25A22):c.146+20G>T rs533314464
NM_001191061.2(SLC25A22):c.147-18_147-17del rs2133711440
NM_001191061.2(SLC25A22):c.147-20C>A
NM_001191061.2(SLC25A22):c.159C>T (p.Leu53=)
NM_001191061.2(SLC25A22):c.168C>T (p.Thr56=)
NM_001191061.2(SLC25A22):c.198C>T (p.Tyr66=)
NM_001191061.2(SLC25A22):c.20+14C>T
NM_001191061.2(SLC25A22):c.20+7C>A rs376421164
NM_001191061.2(SLC25A22):c.202+12C>T rs1005641775
NM_001191061.2(SLC25A22):c.202+15G>A
NM_001191061.2(SLC25A22):c.202+16G>A
NM_001191061.2(SLC25A22):c.202+18T>C
NM_001191061.2(SLC25A22):c.202+19G>A
NM_001191061.2(SLC25A22):c.202+9T>C rs2133710655
NM_001191061.2(SLC25A22):c.203-12C>T rs1432924818
NM_001191061.2(SLC25A22):c.203-14C>T
NM_001191061.2(SLC25A22):c.203-19C>A
NM_001191061.2(SLC25A22):c.203-7C>T
NM_001191061.2(SLC25A22):c.203-9G>A
NM_001191061.2(SLC25A22):c.210T>G (p.Ala70=) rs1864648097
NM_001191061.2(SLC25A22):c.225C>T (p.Leu75=) rs1394231259
NM_001191061.2(SLC25A22):c.22C>T (p.Leu8=) rs2133714057
NM_001191061.2(SLC25A22):c.231C>T (p.Thr77=) rs1466168732
NM_001191061.2(SLC25A22):c.234C>G (p.Pro78=)
NM_001191061.2(SLC25A22):c.258C>G (p.Ala86=)
NM_001191061.2(SLC25A22):c.258C>T (p.Ala86=)
NM_001191061.2(SLC25A22):c.291C>T (p.Asp97=)
NM_001191061.2(SLC25A22):c.293+12G>C
NM_001191061.2(SLC25A22):c.293+14C>G rs1864642338
NM_001191061.2(SLC25A22):c.293+19A>G
NM_001191061.2(SLC25A22):c.294-10C>G
NM_001191061.2(SLC25A22):c.294-11C>T rs756446956
NM_001191061.2(SLC25A22):c.294-7A>T rs762588496
NM_001191061.2(SLC25A22):c.294-9C>T rs201831836
NM_001191061.2(SLC25A22):c.318G>A (p.Glu106=) rs1461046318
NM_001191061.2(SLC25A22):c.327G>C (p.Ala109=) rs141975755
NM_001191061.2(SLC25A22):c.342C>T (p.Gly114=) rs1590119517
NM_001191061.2(SLC25A22):c.366G>A (p.Thr122=)
NM_001191061.2(SLC25A22):c.369C>T (p.Pro123=) rs1323870979
NM_001191061.2(SLC25A22):c.36C>A (p.Leu12=) rs1172103007
NM_001191061.2(SLC25A22):c.36C>T (p.Leu12=) rs1172103007
NM_001191061.2(SLC25A22):c.387C>T (p.Ile129=)
NM_001191061.2(SLC25A22):c.412+10G>A rs113091974
NM_001191061.2(SLC25A22):c.412+17G>A rs929871203
NM_001191061.2(SLC25A22):c.412+7G>A
NM_001191061.2(SLC25A22):c.412+8C>G rs760438511
NM_001191061.2(SLC25A22):c.412+9G>C rs369276282
NM_001191061.2(SLC25A22):c.413-6C>T
NM_001191061.2(SLC25A22):c.413-7T>C rs969941249
NM_001191061.2(SLC25A22):c.444C>T (p.Gly148=)
NM_001191061.2(SLC25A22):c.456C>T (p.Ala152=)
NM_001191061.2(SLC25A22):c.462G>C (p.Gly154=)
NM_001191061.2(SLC25A22):c.477A>G (p.Ser159=) rs2133701556
NM_001191061.2(SLC25A22):c.501G>A (p.Arg167=)
NM_001191061.2(SLC25A22):c.504C>G (p.Pro168=)
NM_001191061.2(SLC25A22):c.513C>T (p.Thr171=)
NM_001191061.2(SLC25A22):c.517C>T (p.Leu173=) rs1306034932
NM_001191061.2(SLC25A22):c.532C>T (p.Leu178=) rs1394480717
NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=) rs368807589
NM_001191061.2(SLC25A22):c.552C>T (p.Ala184=)
NM_001191061.2(SLC25A22):c.558C>T (p.Leu186=) rs2133700836
NM_001191061.2(SLC25A22):c.570C>G (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.587+11_587+17del rs760895473
NM_001191061.2(SLC25A22):c.587+19G>A rs1057520368
NM_001191061.2(SLC25A22):c.588-16_588-14del
NM_001191061.2(SLC25A22):c.627C>T (p.Ala209=) rs2133699836
NM_001191061.2(SLC25A22):c.687C>T (p.Phe229=)
NM_001191061.2(SLC25A22):c.714C>G (p.Ala238=)
NM_001191061.2(SLC25A22):c.732C>T (p.Asn244=)
NM_001191061.2(SLC25A22):c.742+10T>C
NM_001191061.2(SLC25A22):c.742+10T>G
NM_001191061.2(SLC25A22):c.742+16G>A rs1480885232
NM_001191061.2(SLC25A22):c.742+20C>G
NM_001191061.2(SLC25A22):c.742+7G>A
NM_001191061.2(SLC25A22):c.743-11G>A
NM_001191061.2(SLC25A22):c.743-11G>T
NM_001191061.2(SLC25A22):c.743-19A>G
NM_001191061.2(SLC25A22):c.743-8C>T
NM_001191061.2(SLC25A22):c.762G>A (p.Gln254=)
NM_001191061.2(SLC25A22):c.786G>A (p.Glu262=) rs1365291767
NM_001191061.2(SLC25A22):c.798T>C (p.Ser266=)
NM_001191061.2(SLC25A22):c.810C>T (p.Asp270=)
NM_001191061.2(SLC25A22):c.818+16G>A
NM_001191061.2(SLC25A22):c.818+17G>C
NM_001191061.2(SLC25A22):c.818+19G>A
NM_001191061.2(SLC25A22):c.818+9del
NM_001191061.2(SLC25A22):c.819-7_819-5del
NM_001191061.2(SLC25A22):c.819-8C>A
NM_001191061.2(SLC25A22):c.829C>A (p.Arg277=) rs567628237
NM_001191061.2(SLC25A22):c.864C>T (p.Ala288=) rs551917192
NM_001191061.2(SLC25A22):c.882C>T (p.Val294=) rs1445740400
NM_001191061.2(SLC25A22):c.891C>A (p.Pro297=)
NM_001191061.2(SLC25A22):c.891C>G (p.Pro297=)
NM_001191061.2(SLC25A22):c.927C>T (p.Gly309=)
NM_001191061.2(SLC25A22):c.936G>A (p.Glu312=)
NM_001191061.2(SLC25A22):c.939C>T (p.Ser313=)
NM_001191061.2(SLC25A22):c.940C>T (p.Leu314=) rs1405191766
NM_001191061.2(SLC25A22):c.948G>T (p.Gly316=) rs1554965239
NM_001191061.2(SLC25A22):c.99G>A (p.Lys33=)
NM_001271.4(CHD2):c.-486T>C
NM_001330260.2(SCN8A):c.1008A>G (p.Gly336=) rs1320831122
NM_001330260.2(SCN8A):c.1014G>A (p.Gln338=) rs746131591
NM_001330260.2(SCN8A):c.1026A>G (p.Ala342=) rs2138742369
NM_001330260.2(SCN8A):c.1044T>C (p.Tyr348=)
NM_001330260.2(SCN8A):c.1119A>G (p.Glu373=) rs1592390546
NM_001330260.2(SCN8A):c.1125G>A (p.Leu375=) rs2138742562
NM_001330260.2(SCN8A):c.1134+11C>T
NM_001330260.2(SCN8A):c.1134+12C>G rs760180910
NM_001330260.2(SCN8A):c.1134+12C>T rs760180910
NM_001330260.2(SCN8A):c.1135-11T>C
NM_001330260.2(SCN8A):c.1135-12T>C
NM_001330260.2(SCN8A):c.1135-8C>T rs998011038
NM_001330260.2(SCN8A):c.1176C>G (p.Val392=) rs1941767463
NM_001330260.2(SCN8A):c.1182C>A (p.Val394=) rs758200381
NM_001330260.2(SCN8A):c.1212C>T (p.Asn404=) rs1565893673
NM_001330260.2(SCN8A):c.1245A>G (p.Glu415=) rs2138748310
NM_001330260.2(SCN8A):c.1263A>G (p.Thr421=) rs780254154
NM_001330260.2(SCN8A):c.1342-15T>A
NM_001330260.2(SCN8A):c.1342-15T>C rs751585098
NM_001330260.2(SCN8A):c.1342-5C>T
NM_001330260.2(SCN8A):c.1365A>G (p.Ala455=)
NM_001330260.2(SCN8A):c.1371T>A (p.Thr457=) rs972703260
NM_001330260.2(SCN8A):c.1392G>A (p.Glu464=) rs1592393593
NM_001330260.2(SCN8A):c.1401T>G (p.Gly467=)
NM_001330260.2(SCN8A):c.1425G>A (p.Arg475=) rs2138750179
NM_001330260.2(SCN8A):c.1455A>G (p.Ser485=) rs763721137
NM_001330260.2(SCN8A):c.1479C>T (p.Asn493=) rs2138750366
NM_001330260.2(SCN8A):c.1485A>G (p.Arg495=)
NM_001330260.2(SCN8A):c.1497G>A (p.Lys499=)
NM_001330260.2(SCN8A):c.1500A>G (p.Gln500=)
NM_001330260.2(SCN8A):c.1506A>G (p.Glu502=)
NM_001330260.2(SCN8A):c.1509C>T (p.Leu503=)
NM_001330260.2(SCN8A):c.1542G>A (p.Lys514=)
NM_001330260.2(SCN8A):c.156G>A (p.Lys52=)
NM_001330260.2(SCN8A):c.1591C>T (p.Leu531=) rs773176178
NM_001330260.2(SCN8A):c.159C>T (p.Pro53=)
NM_001330260.2(SCN8A):c.15G>C (p.Leu5=) rs757637034
NM_001330260.2(SCN8A):c.1601A>G (p.Asn534Ser) rs760459642
NM_001330260.2(SCN8A):c.1605A>G (p.Arg535=)
NM_001330260.2(SCN8A):c.162G>A (p.Lys54=) rs779576167
NM_001330260.2(SCN8A):c.1632T>C (p.Asn544=)
NM_001330260.2(SCN8A):c.1635+11_1635+15del
NM_001330260.2(SCN8A):c.1635+6_1635+15dup rs1197393846
NM_001330260.2(SCN8A):c.1635+7T>C rs998275281
NM_001330260.2(SCN8A):c.1636-14G>C
NM_001330260.2(SCN8A):c.1636-15T>C
NM_001330260.2(SCN8A):c.1636-17C>T
NM_001330260.2(SCN8A):c.1636-6dup rs1241750822
NM_001330260.2(SCN8A):c.1653A>G (p.Pro551=) rs1213382628
NM_001330260.2(SCN8A):c.1662C>T (p.Pro554=) rs1555221470
NM_001330260.2(SCN8A):c.1668C>T (p.Leu556=) rs2138782135
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1680C>T (p.Asn560=) rs2138782181
NM_001330260.2(SCN8A):c.168C>T (p.Asn56=) rs1940955072
NM_001330260.2(SCN8A):c.1707G>A (p.Arg569=) rs267603508
NM_001330260.2(SCN8A):c.1717C>A (p.Arg573=) rs370074236
NM_001330260.2(SCN8A):c.1731G>A (p.Pro577=)
NM_001330260.2(SCN8A):c.1731G>C (p.Pro577=)
NM_001330260.2(SCN8A):c.1791C>G (p.Arg597=) rs1942065806
NM_001330260.2(SCN8A):c.1791C>T (p.Arg597=) rs1942065806
NM_001330260.2(SCN8A):c.1797C>T (p.Asp599=)
NM_001330260.2(SCN8A):c.1809C>T (p.Ile603=) rs1942066515
NM_001330260.2(SCN8A):c.1818G>A (p.Arg606=)
NM_001330260.2(SCN8A):c.1818G>T (p.Arg606=) rs777424314
NM_001330260.2(SCN8A):c.1824C>A (p.Arg608=)
NM_001330260.2(SCN8A):c.1824C>T (p.Arg608=) rs756753738
NM_001330260.2(SCN8A):c.1860C>T (p.Tyr620=) rs180727641
NM_001330260.2(SCN8A):c.1881G>T (p.Ser627=)
NM_001330260.2(SCN8A):c.1890C>T (p.Phe630=)
NM_001330260.2(SCN8A):c.1893C>G (p.Pro631=)
NM_001330260.2(SCN8A):c.1914G>A (p.Lys638=)
NM_001330260.2(SCN8A):c.1932C>T (p.Asp644=)
NM_001330260.2(SCN8A):c.1938C>T (p.Asn646=)
NM_001330260.2(SCN8A):c.1965C>T (p.Pro655=)
NM_001330260.2(SCN8A):c.1977C>T (p.Ile659=) rs886049583
NM_001330260.2(SCN8A):c.1989C>G (p.Leu663=)
NM_001330260.2(SCN8A):c.1999-12T>C
NM_001330260.2(SCN8A):c.1999-13T>G
NM_001330260.2(SCN8A):c.1999-15T>C
NM_001330260.2(SCN8A):c.1999-18C>T
NM_001330260.2(SCN8A):c.1999-4A>G rs765240974
NM_001330260.2(SCN8A):c.1999-5_1999-4del
NM_001330260.2(SCN8A):c.1999-8T>C
NM_001330260.2(SCN8A):c.2031C>T (p.Gly677=)
NM_001330260.2(SCN8A):c.2077C>T (p.Arg693Trp) rs2138828841
NM_001330260.2(SCN8A):c.2115A>G (p.Thr705=)
NM_001330260.2(SCN8A):c.2131+20A>T
NM_001330260.2(SCN8A):c.2132-11A>T rs1942591191
NM_001330260.2(SCN8A):c.2132-11dup
NM_001330260.2(SCN8A):c.2132-5T>C
NM_001330260.2(SCN8A):c.2132-6C>A rs754118322
NM_001330260.2(SCN8A):c.2132-8_2132-5del rs587780452
NM_001330260.2(SCN8A):c.2163A>G (p.Pro721=)
NM_001330260.2(SCN8A):c.216C>T (p.Ile72=)
NM_001330260.2(SCN8A):c.2190C>T (p.Phe730=) rs1592142779
NM_001330260.2(SCN8A):c.2211C>G (p.Pro737=)
NM_001330260.2(SCN8A):c.2234T>C (p.Ile745Thr) rs1942593819
NM_001330260.2(SCN8A):c.2242T>C (p.Leu748=) rs2138838573
NM_001330260.2(SCN8A):c.2265G>C (p.Val755=)
NM_001330260.2(SCN8A):c.2289C>T (p.Ile763=) rs1357051225
NM_001330260.2(SCN8A):c.2301A>C (p.Thr767=) rs1420981704
NM_001330260.2(SCN8A):c.2301A>G (p.Thr767=)
NM_001330260.2(SCN8A):c.2302C>T (p.Leu768=)
NM_001330260.2(SCN8A):c.2325T>C (p.His775=) rs1060504138
NM_001330260.2(SCN8A):c.2337A>G (p.Pro779=) rs775023944
NM_001330260.2(SCN8A):c.234A>G (p.Ala78=)
NM_001330260.2(SCN8A):c.2352C>G (p.Val784=) rs2138838797
NM_001330260.2(SCN8A):c.2370+13A>G
NM_001330260.2(SCN8A):c.2370+20C>A
NM_001330260.2(SCN8A):c.2371-11C>A rs199751851
NM_001330260.2(SCN8A):c.2371-15C>A
NM_001330260.2(SCN8A):c.2371-19C>A
NM_001330260.2(SCN8A):c.2371-9C>A rs1942777034
NM_001330260.2(SCN8A):c.241C>T (p.Leu81=) rs1940957150
NM_001330260.2(SCN8A):c.2494C>T (p.Leu832=) rs1592148218
NM_001330260.2(SCN8A):c.249C>T (p.Asp83=) rs2138671497
NM_001330260.2(SCN8A):c.2500C>T (p.Leu834=) rs2138857836
NM_001330260.2(SCN8A):c.2511G>A (p.Val837=)
NM_001330260.2(SCN8A):c.2517G>T (p.Gly839=)
NM_001330260.2(SCN8A):c.2542T>C (p.Leu848=) rs760438554
NM_001330260.2(SCN8A):c.2544+10A>G
NM_001330260.2(SCN8A):c.2544+15T>C rs2138857968
NM_001330260.2(SCN8A):c.2545-12_2545-11insA
NM_001330260.2(SCN8A):c.2545-17G>T rs1314952791
NM_001330260.2(SCN8A):c.2545-19_2545-18insC
NM_001330260.2(SCN8A):c.2545-5dup rs1942827109
NM_001330260.2(SCN8A):c.2547C>T (p.Leu849=) rs2138862532
NM_001330260.2(SCN8A):c.258A>G (p.Pro86=)
NM_001330260.2(SCN8A):c.2592A>C (p.Leu864=) rs1555225792
NM_001330260.2(SCN8A):c.2627G>T (p.Gly876Val) rs1060501010
NM_001330260.2(SCN8A):c.2670C>G (p.Ala890=) rs374452942
NM_001330260.2(SCN8A):c.2709G>A (p.Glu903=)
NM_001330260.2(SCN8A):c.270G>A (p.Thr90=) rs371712630
NM_001330260.2(SCN8A):c.2712T>C (p.Cys904=) rs1555225819
NM_001330260.2(SCN8A):c.2715C>G (p.Val905=)
NM_001330260.2(SCN8A):c.276+15G>A
NM_001330260.2(SCN8A):c.276+4A>T rs1940958406
NM_001330260.2(SCN8A):c.276+9G>T
NM_001330260.2(SCN8A):c.277-18C>G
NM_001330260.2(SCN8A):c.277-23TC[2] rs765408317
NM_001330260.2(SCN8A):c.277-8C>T rs749517144
NM_001330260.2(SCN8A):c.279C>T (p.Thr93=) rs2138707894
NM_001330260.2(SCN8A):c.285A>G (p.Val95=)
NM_001330260.2(SCN8A):c.2880C>T (p.Val960=)
NM_001330260.2(SCN8A):c.2901+15G>A rs754580733
NM_001330260.2(SCN8A):c.2901+16T>G
NM_001330260.2(SCN8A):c.2902-10A>G
NM_001330260.2(SCN8A):c.2902-11dup
NM_001330260.2(SCN8A):c.2902-16_2902-15del
NM_001330260.2(SCN8A):c.2902-6G>T
NM_001330260.2(SCN8A):c.2904G>A (p.Val968=)
NM_001330260.2(SCN8A):c.2911C>T (p.Leu971=) rs1942877721
NM_001330260.2(SCN8A):c.2953C>T (p.Leu985=)
NM_001330260.2(SCN8A):c.2991C>T (p.Leu997=) rs1195083435
NM_001330260.2(SCN8A):c.3054C>T (p.Phe1018=)
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802
NM_001330260.2(SCN8A):c.3109T>C (p.Leu1037=)
NM_001330260.2(SCN8A):c.3116A>G (p.Glu1039Gly) rs2138868512
NM_001330260.2(SCN8A):c.3144C>T (p.His1048=) rs2138868606
NM_001330260.2(SCN8A):c.3180G>A (p.Gln1060=)
NM_001330260.2(SCN8A):c.3185A>G (p.Asn1062Ser) rs1592151546
NM_001330260.2(SCN8A):c.31C>A (p.Pro11Thr) rs1940950511
NM_001330260.2(SCN8A):c.3203G>A (p.Ser1068Asn) rs1592151555
NM_001330260.2(SCN8A):c.3261C>G (p.Ile1087Met) rs2138868887
NM_001330260.2(SCN8A):c.3267C>T (p.Asn1089=) rs761386688
NM_001330260.2(SCN8A):c.3288A>G (p.Val1096=)
NM_001330260.2(SCN8A):c.3300G>A (p.Val1100=)
NM_001330260.2(SCN8A):c.3306G>A (p.Glu1102=)
NM_001330260.2(SCN8A):c.3319A>C (p.Asn1107His) rs1942886955
NM_001330260.2(SCN8A):c.3330A>G (p.Thr1110=)
NM_001330260.2(SCN8A):c.3339T>C (p.Val1113=) rs2138869110
NM_001330260.2(SCN8A):c.3372+13C>G
NM_001330260.2(SCN8A):c.3372+13C>T
NM_001330260.2(SCN8A):c.3372+16A>G
NM_001330260.2(SCN8A):c.3373-14C>T
NM_001330260.2(SCN8A):c.3373-4C>T
NM_001330260.2(SCN8A):c.3387C>A (p.Thr1129=) rs1592152030
NM_001330260.2(SCN8A):c.3408C>T (p.Thr1136=) rs1555226263
NM_001330260.2(SCN8A):c.3432A>G (p.Glu1144=) rs769356208
NM_001330260.2(SCN8A):c.3441T>C (p.Pro1147=) rs2138870285
NM_001330260.2(SCN8A):c.3459A>G (p.Glu1153=) rs1057522632
NM_001330260.2(SCN8A):c.3471A>G (p.Pro1157=) rs368596553
NM_001330260.2(SCN8A):c.3477C>T (p.Ala1159=) rs2138870413
NM_001330260.2(SCN8A):c.3490+17A>G
NM_001330260.2(SCN8A):c.3490+19C>T
NM_001330260.2(SCN8A):c.3490+6dup rs1942899581
NM_001330260.2(SCN8A):c.3491-11G>A rs745414775
NM_001330260.2(SCN8A):c.3491-11G>T
NM_001330260.2(SCN8A):c.3491-20G>A
NM_001330260.2(SCN8A):c.3579C>T (p.Leu1193=)
NM_001330260.2(SCN8A):c.3594C>T (p.Asn1198=)
NM_001330260.2(SCN8A):c.3606C>G (p.Thr1202=)
NM_001330260.2(SCN8A):c.3645+10A>G rs1942912454
NM_001330260.2(SCN8A):c.3645+10del rs1942912490
NM_001330260.2(SCN8A):c.3645+18G>A rs375807594
NM_001330260.2(SCN8A):c.3645+8C>G rs768603435
NM_001330260.2(SCN8A):c.3645+8C>T
NM_001330260.2(SCN8A):c.3646-11C>T
NM_001330260.2(SCN8A):c.3654G>A (p.Glu1218=)
NM_001330260.2(SCN8A):c.3669G>A (p.Glu1223=) rs1318771897
NM_001330260.2(SCN8A):c.3681C>G (p.Thr1227=) rs771709180
NM_001330260.2(SCN8A):c.3687C>T (p.Arg1229=)
NM_001330260.2(SCN8A):c.36T>C (p.Asp12=) rs1185519570
NM_001330260.2(SCN8A):c.3702T>C (p.Tyr1234=) rs1555226833
NM_001330260.2(SCN8A):c.3703G>A (p.Ala1235Thr) rs1942973895
NM_001330260.2(SCN8A):c.3705T>C (p.Ala1235=) rs954831801
NM_001330260.2(SCN8A):c.3705T>G (p.Ala1235=)
NM_001330260.2(SCN8A):c.3729C>T (p.Phe1243=) rs2138879070
NM_001330260.2(SCN8A):c.3783C>G (p.Thr1261=) rs1060504140
NM_001330260.2(SCN8A):c.3799C>T (p.Leu1267=)
NM_001330260.2(SCN8A):c.3801G>A (p.Leu1267=) rs1592154970
NM_001330260.2(SCN8A):c.3804C>T (p.Asp1268=) rs2138879208
NM_001330260.2(SCN8A):c.3819+7G>A
NM_001330260.2(SCN8A):c.3820-12G>C
NM_001330260.2(SCN8A):c.3820-14_3820-13del
NM_001330260.2(SCN8A):c.3820-7TG[3] rs2138892590
NM_001330260.2(SCN8A):c.3831C>T (p.Val1277=)
NM_001330260.2(SCN8A):c.3834C>T (p.Ser1278=) rs1937892046
NM_001330260.2(SCN8A):c.3849C>T (p.Ala1283=) rs2138892718
NM_001330260.2(SCN8A):c.3888G>A (p.Arg1296=) rs1565923605
NM_001330260.2(SCN8A):c.3918C>T (p.Ala1306=)
NM_001330260.2(SCN8A):c.3933A>G (p.Glu1311=)
NM_001330260.2(SCN8A):c.3942+11_3942+12delinsTG rs2138892933
NM_001330260.2(SCN8A):c.3942+14del
NM_001330260.2(SCN8A):c.3942+8A>G rs1555227596
NM_001330260.2(SCN8A):c.3942+9del rs750135266
NM_001330260.2(SCN8A):c.3943-17C>G rs1057523298
NM_001330260.2(SCN8A):c.3945G>A (p.Val1315=) rs1555228304
NM_001330260.2(SCN8A):c.3948G>A (p.Val1316=)
NM_001330260.2(SCN8A):c.395+11C>T
NM_001330260.2(SCN8A):c.395+16A>G
NM_001330260.2(SCN8A):c.395+17A>T
NM_001330260.2(SCN8A):c.395+19_395+37del
NM_001330260.2(SCN8A):c.396-19C>T
NM_001330260.2(SCN8A):c.396-20G>A
NM_001330260.2(SCN8A):c.396-6C>T rs1592379052
NM_001330260.2(SCN8A):c.3969C>T (p.Ala1323=)
NM_001330260.2(SCN8A):c.3996G>C (p.Leu1332=) rs2138904116
NM_001330260.2(SCN8A):c.4050G>C (p.Ala1350=) rs1197438038
NM_001330260.2(SCN8A):c.4053A>G (p.Gly1351=) rs2138904231
NM_001330260.2(SCN8A):c.4068C>T (p.Cys1356=)
NM_001330260.2(SCN8A):c.4161C>T (p.Ile1387=)
NM_001330260.2(SCN8A):c.4173C>T (p.Asn1391=)
NM_001330260.2(SCN8A):c.4215C>G (p.Ala1405=)
NM_001330260.2(SCN8A):c.4227+11T>C
NM_001330260.2(SCN8A):c.4227+8G>A
NM_001330260.2(SCN8A):c.4227+9TGTTTT[2] rs1938101173
NM_001330260.2(SCN8A):c.4228-19G>A rs1234868325
NM_001330260.2(SCN8A):c.4228-9G>C rs2138908282
NM_001330260.2(SCN8A):c.4281+11A>G
NM_001330260.2(SCN8A):c.4281+14T>C
NM_001330260.2(SCN8A):c.4281+17C>A
NM_001330260.2(SCN8A):c.4281+17C>T
NM_001330260.2(SCN8A):c.4281+9G>A
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4282-10C>T rs369145855
NM_001330260.2(SCN8A):c.4282-14C>A rs1156411784
NM_001330260.2(SCN8A):c.4282-14C>T
NM_001330260.2(SCN8A):c.4282-9C>G
NM_001330260.2(SCN8A):c.4290G>A (p.Glu1430=)
NM_001330260.2(SCN8A):c.4305G>A (p.Glu1435=) rs1938177322
NM_001330260.2(SCN8A):c.4308C>T (p.Asp1436=)
NM_001330260.2(SCN8A):c.4311T>C (p.Asn1437=) rs1060504139
NM_001330260.2(SCN8A):c.4314C>T (p.Ile1438=)
NM_001330260.2(SCN8A):c.432C>G (p.Thr144=) rs1450876249
NM_001330260.2(SCN8A):c.4338C>T (p.Ile1446=)
NM_001330260.2(SCN8A):c.4341C>T (p.Phe1447=)
NM_001330260.2(SCN8A):c.4344C>T (p.Ile1448=) rs2138909579
NM_001330260.2(SCN8A):c.4353C>T (p.Gly1451=)
NM_001330260.2(SCN8A):c.4383T>C (p.Gly1461=) rs2138909644
NM_001330260.2(SCN8A):c.4398C>T (p.Asn1466=)
NM_001330260.2(SCN8A):c.4404T>C (p.Asn1468=)
NM_001330260.2(SCN8A):c.4419+15C>T
NM_001330260.2(SCN8A):c.4420-9C>T
NM_001330260.2(SCN8A):c.4437C>T (p.Ile1479=)
NM_001330260.2(SCN8A):c.4494G>A (p.Lys1498=)
NM_001330260.2(SCN8A):c.4518C>T (p.Arg1506=) rs765882259
NM_001330260.2(SCN8A):c.4524+13T>A
NM_001330260.2(SCN8A):c.4525-12C>T
NM_001330260.2(SCN8A):c.4525-14C>T
NM_001330260.2(SCN8A):c.4525-3del rs1592167053
NM_001330260.2(SCN8A):c.4525-8del
NM_001330260.2(SCN8A):c.4525-9C>T
NM_001330260.2(SCN8A):c.4533C>T (p.Ile1511=)
NM_001330260.2(SCN8A):c.4557C>T (p.Val1519=) rs1555229490
NM_001330260.2(SCN8A):c.4569C>T (p.Ala1523=) rs2138919081
NM_001330260.2(SCN8A):c.4591C>T (p.Leu1531Phe) rs1592167109
NM_001330260.2(SCN8A):c.4683T>C (p.Phe1561=)
NM_001330260.2(SCN8A):c.4695C>T (p.Phe1565=)
NM_001330260.2(SCN8A):c.4704G>A (p.Glu1568=)
NM_001330260.2(SCN8A):c.4713C>T (p.Leu1571=)
NM_001330260.2(SCN8A):c.4722T>C (p.Phe1574=) rs1377093609
NM_001330260.2(SCN8A):c.4742T>A (p.Phe1581Tyr) rs1555229539
NM_001330260.2(SCN8A):c.4752C>T (p.Gly1584=)
NM_001330260.2(SCN8A):c.4767C>T (p.Asp1589=) rs1938356938
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4796-10C>G
NM_001330260.2(SCN8A):c.4796-10C>T rs1299909863
NM_001330260.2(SCN8A):c.4796-14_4796-13dup
NM_001330260.2(SCN8A):c.4836C>T (p.Ser1612=) rs2138942256
NM_001330260.2(SCN8A):c.4842C>T (p.Thr1614=) rs2138942278
NM_001330260.2(SCN8A):c.485+20G>A
NM_001330260.2(SCN8A):c.485+20G>C
NM_001330260.2(SCN8A):c.485+8A>G rs750126338
NM_001330260.2(SCN8A):c.486-20G>A rs2138712880
NM_001330260.2(SCN8A):c.4861T>C (p.Leu1621=) rs2138942326
NM_001330260.2(SCN8A):c.4887T>G (p.Arg1629=) rs774981346
NM_001330260.2(SCN8A):c.48T>C (p.Pro16=)
NM_001330260.2(SCN8A):c.4930T>C (p.Leu1644=)
NM_001330260.2(SCN8A):c.4946C>A (p.Pro1649His) rs1938704227
NM_001330260.2(SCN8A):c.4971G>A (p.Leu1657=)
NM_001330260.2(SCN8A):c.4983C>T (p.Val1661=) rs1938705533
NM_001330260.2(SCN8A):c.4989C>T (p.Phe1663=)
NM_001330260.2(SCN8A):c.4995C>T (p.Phe1665=) rs1938705785
NM_001330260.2(SCN8A):c.5049T>C (p.Asp1683=) rs2138942744
NM_001330260.2(SCN8A):c.5052C>T (p.Asp1684=) rs2138942754
NM_001330260.2(SCN8A):c.5167C>T (p.Leu1723=) rs1031935135
NM_001330260.2(SCN8A):c.5178A>G (p.Glu1726=) rs2138943092
NM_001330260.2(SCN8A):c.5259T>C (p.Ser1753=)
NM_001330260.2(SCN8A):c.5313A>C (p.Val1771=) rs1020683513
NM_001330260.2(SCN8A):c.5313A>G (p.Val1771=)
NM_001330260.2(SCN8A):c.531C>A (p.Ile177=) rs2138712970
NM_001330260.2(SCN8A):c.5366A>G (p.Tyr1789Cys) rs961205540
NM_001330260.2(SCN8A):c.5412G>A (p.Glu1804=)
NM_001330260.2(SCN8A):c.5421G>A (p.Lys1807=) rs1938717343
NM_001330260.2(SCN8A):c.5445G>A (p.Leu1815=) rs2138943697
NM_001330260.2(SCN8A):c.5463G>T (p.Val1821=)
NM_001330260.2(SCN8A):c.5466C>T (p.Pro1822=) rs771214217
NM_001330260.2(SCN8A):c.5589C>T (p.Asp1863=)
NM_001330260.2(SCN8A):c.5595G>A (p.Leu1865=)
NM_001330260.2(SCN8A):c.5598G>A (p.Arg1866=) rs530351787
NM_001330260.2(SCN8A):c.5621T>G (p.Val1874Gly) rs1938724998
NM_001330260.2(SCN8A):c.5667A>T (p.Thr1889=)
NM_001330260.2(SCN8A):c.5682G>A (p.Gln1894=) rs2138944420
NM_001330260.2(SCN8A):c.5718C>T (p.Tyr1906=)
NM_001330260.2(SCN8A):c.5721G>A (p.Arg1907=) rs766207565
NM_001330260.2(SCN8A):c.5748C>T (p.Ile1916=) rs1390613897
NM_001330260.2(SCN8A):c.5754A>G (p.Lys1918=) rs1938730493
NM_001330260.2(SCN8A):c.5796G>A (p.Arg1932=) rs2138944763
NM_001330260.2(SCN8A):c.5808G>A (p.Glu1936=)
NM_001330260.2(SCN8A):c.5823A>C (p.Thr1941=)
NM_001330260.2(SCN8A):c.5832C>T (p.Leu1944=) rs1209111806
NM_001330260.2(SCN8A):c.5896A>C (p.Arg1966=) rs2138945097
NM_001330260.2(SCN8A):c.589T>C (p.Leu197=) rs2138713080
NM_001330260.2(SCN8A):c.5936A>C (p.Lys1979Thr) rs1938739577
NM_001330260.2(SCN8A):c.614+12C>A
NM_001330260.2(SCN8A):c.614+13C>T
NM_001330260.2(SCN8A):c.615-10C>T rs1381398989
NM_001330260.2(SCN8A):c.615-11C>A
NM_001330260.2(SCN8A):c.615-11C>G
NM_001330260.2(SCN8A):c.615-142G>T
NM_001330260.2(SCN8A):c.615-143G>T rs376385273
NM_001330260.2(SCN8A):c.615-20T>G rs1219551431
NM_001330260.2(SCN8A):c.615-6C>A
NM_001330260.2(SCN8A):c.632T>C (p.Val211Ala) rs1592380834
NM_001330260.2(SCN8A):c.651A>G (p.Ser217=)
NM_001330260.2(SCN8A):c.669G>T (p.Arg223Ser) rs2138716709
NM_001330260.2(SCN8A):c.672T>C (p.Val224=) rs1941465291
NM_001330260.2(SCN8A):c.676C>T (p.Arg226Ter)
NM_001330260.2(SCN8A):c.683T>G (p.Leu228Trp) rs1592380865
NM_001330260.2(SCN8A):c.687A>G (p.Lys229=)
NM_001330260.2(SCN8A):c.690T>C (p.Thr230=)
NM_001330260.2(SCN8A):c.706+11T>G rs767667849
NM_001330260.2(SCN8A):c.706+13G>T
NM_001330260.2(SCN8A):c.706+17A>C rs756313977
NM_001330260.2(SCN8A):c.707-10G>T rs2138735465
NM_001330260.2(SCN8A):c.707-16G>A
NM_001330260.2(SCN8A):c.707-17G>A
NM_001330260.2(SCN8A):c.707-6C>T
NM_001330260.2(SCN8A):c.708C>A (p.Gly236=) rs373002273
NM_001330260.2(SCN8A):c.708C>T (p.Gly236=)
NM_001330260.2(SCN8A):c.753G>C (p.Leu251=)
NM_001330260.2(SCN8A):c.762G>A (p.Val254=) rs143307190
NM_001330260.2(SCN8A):c.786G>A (p.Leu262=) rs1592387904
NM_001330260.2(SCN8A):c.840G>A (p.Lys280=)
NM_001330260.2(SCN8A):c.849G>A (p.Val283=)
NM_001330260.2(SCN8A):c.885T>C (p.Asn295=) rs1386653667
NM_001330260.2(SCN8A):c.887G>A (p.Gly296Asp) rs1941653003
NM_001330260.2(SCN8A):c.928+14T>A
NM_001330260.2(SCN8A):c.929-13C>G
NM_001330260.2(SCN8A):c.929-18C>G
NM_001330260.2(SCN8A):c.929-18C>T rs2138738887
NM_001330260.2(SCN8A):c.929-6T>C
NM_001330260.2(SCN8A):c.929-9C>T
NM_001330260.2(SCN8A):c.929-9del
NM_001330260.2(SCN8A):c.948T>C (p.Pro316=)
NM_001330260.2(SCN8A):c.992+14C>T
NM_001330260.2(SCN8A):c.992+16A>G rs2138739131
NM_001330260.2(SCN8A):c.993-10del
NM_001330260.2(SCN8A):c.993-12T>C rs2138742262
NM_001330260.2(SCN8A):c.993-6C>T rs2138742271
NM_001330260.2(SCN8A):c.9G>A (p.Ala3=) rs778177119
NM_003165.6(STXBP1):c.1713C>T (p.His571=) rs1053771056
NM_003165.6(STXBP1):c.1752C>T (p.His584=)
NM_003165.6(STXBP1):c.1803A>G (p.Thr601=)
NM_006030.4(CACNA2D2):c.102G>A (p.Arg34=) rs2107205604
NM_006030.4(CACNA2D2):c.1033C>T (p.Leu345=) rs2106661677
NM_006030.4(CACNA2D2):c.1044C>T (p.Ala348=) rs2106661632
NM_006030.4(CACNA2D2):c.1053C>A (p.Arg351=)
NM_006030.4(CACNA2D2):c.1062G>A (p.Lys354=) rs2106661474
NM_006030.4(CACNA2D2):c.1144C>T (p.Leu382=) rs2106661027
NM_006030.4(CACNA2D2):c.1146G>T (p.Leu382=)
NM_006030.4(CACNA2D2):c.1152+10A>G rs2106660953
NM_006030.4(CACNA2D2):c.1152+7C>T
NM_006030.4(CACNA2D2):c.1170C>G (p.Ala390=) rs1413955767
NM_006030.4(CACNA2D2):c.1212G>A (p.Glu404=) rs752536418
NM_006030.4(CACNA2D2):c.1218C>T (p.Arg406=)
NM_006030.4(CACNA2D2):c.1245T>C (p.Asn415=) rs1575602301
NM_006030.4(CACNA2D2):c.1260+13C>G rs1286791407
NM_006030.4(CACNA2D2):c.1260+13C>T
NM_006030.4(CACNA2D2):c.1260+14G>A
NM_006030.4(CACNA2D2):c.1260+14G>C rs587694555
NM_006030.4(CACNA2D2):c.1260+19A>C
NM_006030.4(CACNA2D2):c.1261-10C>G
NM_006030.4(CACNA2D2):c.1261-10C>T rs913653302
NM_006030.4(CACNA2D2):c.1261-16C>T rs945121725
NM_006030.4(CACNA2D2):c.1261-17C>T
NM_006030.4(CACNA2D2):c.1261-5C>G
NM_006030.4(CACNA2D2):c.1261-5C>T
NM_006030.4(CACNA2D2):c.1261-6C>T rs2106657990
NM_006030.4(CACNA2D2):c.1266C>T (p.Arg422=)
NM_006030.4(CACNA2D2):c.1281C>A (p.Ser427=)
NM_006030.4(CACNA2D2):c.12G>C (p.Pro4=) rs1575799274
NM_006030.4(CACNA2D2):c.1311G>A (p.Pro437=) rs751421251
NM_006030.4(CACNA2D2):c.1311G>T (p.Pro437=) rs751421251
NM_006030.4(CACNA2D2):c.1339+10C>T
NM_006030.4(CACNA2D2):c.1339+13C>T
NM_006030.4(CACNA2D2):c.1339+14G>T rs202140446
NM_006030.4(CACNA2D2):c.1339+16A>G
NM_006030.4(CACNA2D2):c.1339+20C>T
NM_006030.4(CACNA2D2):c.1340-19G>C
NM_006030.4(CACNA2D2):c.1359T>C (p.Pro453=)
NM_006030.4(CACNA2D2):c.136C>T (p.Leu46=)
NM_006030.4(CACNA2D2):c.1380C>T (p.Ile460=)
NM_006030.4(CACNA2D2):c.1386A>G (p.Thr462=) rs2106653920
NM_006030.4(CACNA2D2):c.1389+3GA[3] rs1060504832
NM_006030.4(CACNA2D2):c.1389+7C>G
NM_006030.4(CACNA2D2):c.1389+9del rs1705097472
NM_006030.4(CACNA2D2):c.1390-9C>G
NM_006030.4(CACNA2D2):c.139C>T (p.Leu47=) rs2107205386
NM_006030.4(CACNA2D2):c.1437G>A (p.Glu479=) rs1192327116
NM_006030.4(CACNA2D2):c.1479+7C>G
NM_006030.4(CACNA2D2):c.147G>A (p.Pro49=) rs2107205343
NM_006030.4(CACNA2D2):c.1480-10C>T
NM_006030.4(CACNA2D2):c.1480-19C>A rs2106651067
NM_006030.4(CACNA2D2):c.1480-6C>T rs1575600487
NM_006030.4(CACNA2D2):c.1480-7C>T
NM_006030.4(CACNA2D2):c.1488G>A (p.Gly496=)
NM_006030.4(CACNA2D2):c.1503G>C (p.Gly501=)
NM_006030.4(CACNA2D2):c.150T>A (p.Leu50=)
NM_006030.4(CACNA2D2):c.153A>G (p.Leu51=)
NM_006030.4(CACNA2D2):c.1551+14A>T
NM_006030.4(CACNA2D2):c.1552-13C>G
NM_006030.4(CACNA2D2):c.1552-5C>T
NM_006030.4(CACNA2D2):c.1552-6T>C rs754805646
NM_006030.4(CACNA2D2):c.1584C>T (p.Asp528=)
NM_006030.4(CACNA2D2):c.159G>A (p.Leu53=)
NM_006030.4(CACNA2D2):c.1605G>A (p.Lys535=) rs769113801
NM_006030.4(CACNA2D2):c.1626+12C>G
NM_006030.4(CACNA2D2):c.1626+9C>T rs775564233
NM_006030.4(CACNA2D2):c.1627-16C>T
NM_006030.4(CACNA2D2):c.1627-18C>G
NM_006030.4(CACNA2D2):c.1627-6C>T rs1300025016
NM_006030.4(CACNA2D2):c.1635C>T (p.Ala545=)
NM_006030.4(CACNA2D2):c.1665C>T (p.Asn555=) rs768302184
NM_006030.4(CACNA2D2):c.1698C>A (p.Pro566=) rs764348423
NM_006030.4(CACNA2D2):c.1702-17C>T rs1204151334
NM_006030.4(CACNA2D2):c.1702-5A>C rs587632370
NM_006030.4(CACNA2D2):c.1704C>T (p.Thr568=)
NM_006030.4(CACNA2D2):c.1737C>T (p.Phe579=) rs2106641004
NM_006030.4(CACNA2D2):c.1746G>A (p.Ala582=) rs373700024
NM_006030.4(CACNA2D2):c.1746G>T (p.Ala582=) rs373700024
NM_006030.4(CACNA2D2):c.174C>T (p.Gly58=)
NM_006030.4(CACNA2D2):c.1773+8GAG[2]
NM_006030.4(CACNA2D2):c.1774-10G>A rs2106640414
NM_006030.4(CACNA2D2):c.1794T>C (p.Asp598=) rs2106640267
NM_006030.4(CACNA2D2):c.1809C>T (p.His603=) rs775093553
NM_006030.4(CACNA2D2):c.1837C>T (p.Leu613=) rs369541788
NM_006030.4(CACNA2D2):c.1839G>A (p.Leu613=)
NM_006030.4(CACNA2D2):c.1845+10C>A
NM_006030.4(CACNA2D2):c.1846-16C>T
NM_006030.4(CACNA2D2):c.1846-4C>G
NM_006030.4(CACNA2D2):c.1846-9C>G
NM_006030.4(CACNA2D2):c.1896C>T (p.Ser632=)
NM_006030.4(CACNA2D2):c.1899T>A (p.Thr633=) rs2106639354
NM_006030.4(CACNA2D2):c.1907+11C>T
NM_006030.4(CACNA2D2):c.1907+16G>C
NM_006030.4(CACNA2D2):c.1907+17C>T
NM_006030.4(CACNA2D2):c.1907+7G>A rs1553728378
NM_006030.4(CACNA2D2):c.1907+9G>A
NM_006030.4(CACNA2D2):c.1908-10C>A rs2106637834
NM_006030.4(CACNA2D2):c.1908-4T>A
NM_006030.4(CACNA2D2):c.1908-6C>T rs200831326
NM_006030.4(CACNA2D2):c.1909C>T (p.Leu637=) rs1447034971
NM_006030.4(CACNA2D2):c.1923C>G (p.Leu641=)
NM_006030.4(CACNA2D2):c.1923C>T (p.Leu641=) rs758048696
NM_006030.4(CACNA2D2):c.192C>T (p.Phe64=)
NM_006030.4(CACNA2D2):c.1953C>T (p.Ala651=) rs2106637741
NM_006030.4(CACNA2D2):c.195C>G (p.Pro65=)
NM_006030.4(CACNA2D2):c.1984+14C>T
NM_006030.4(CACNA2D2):c.1984+15C>G
NM_006030.4(CACNA2D2):c.1984+17C>T
NM_006030.4(CACNA2D2):c.1984+19G>A
NM_006030.4(CACNA2D2):c.1984+7dup rs2106637708
NM_006030.4(CACNA2D2):c.1984+8G>A rs1358225188
NM_006030.4(CACNA2D2):c.1984+9C>A
NM_006030.4(CACNA2D2):c.1985-13G>A
NM_006030.4(CACNA2D2):c.1985-18C>A
NM_006030.4(CACNA2D2):c.1985-18C>T
NM_006030.4(CACNA2D2):c.1985-7G>A
NM_006030.4(CACNA2D2):c.1998G>C (p.Leu666=) rs2109421580
NM_006030.4(CACNA2D2):c.2001C>T (p.Leu667=) rs2109421574
NM_006030.4(CACNA2D2):c.2043C>T (p.Pro681=) rs2109421379
NM_006030.4(CACNA2D2):c.2045+10G>T rs371372561
NM_006030.4(CACNA2D2):c.2045+16C>G rs921765499
NM_006030.4(CACNA2D2):c.2045+20G>A
NM_006030.4(CACNA2D2):c.2046-16C>T
NM_006030.4(CACNA2D2):c.2046-8A>G rs1287219010
NM_006030.4(CACNA2D2):c.2046-9C>T rs371384871
NM_006030.4(CACNA2D2):c.206+14G>T
NM_006030.4(CACNA2D2):c.207-10C>G
NM_006030.4(CACNA2D2):c.207-6A>T
NM_006030.4(CACNA2D2):c.2070C>T (p.Ala690=) rs1704455606
NM_006030.4(CACNA2D2):c.2085C>G (p.Thr695=)
NM_006030.4(CACNA2D2):c.2130A>G (p.Pro710=) rs1575587304
NM_006030.4(CACNA2D2):c.2143+12G>A rs2109413051
NM_006030.4(CACNA2D2):c.2144-16_2144-15del rs758602644
NM_006030.4(CACNA2D2):c.2144-19C>T
NM_006030.4(CACNA2D2):c.2144-28CACCCC[3]
NM_006030.4(CACNA2D2):c.2144-3del
NM_006030.4(CACNA2D2):c.2144-4C>T
NM_006030.4(CACNA2D2):c.2144-9C>T
NM_006030.4(CACNA2D2):c.2187C>T (p.Ile729=) rs1060504833
NM_006030.4(CACNA2D2):c.2190G>A (p.Thr730=) rs776081784
NM_006030.4(CACNA2D2):c.2190G>C (p.Thr730=) rs776081784
NM_006030.4(CACNA2D2):c.2220C>T (p.Asp740=) rs2109411396
NM_006030.4(CACNA2D2):c.2234+19G>A
NM_006030.4(CACNA2D2):c.2234+19G>T
NM_006030.4(CACNA2D2):c.2234+9C>T
NM_006030.4(CACNA2D2):c.2235-18C>A
NM_006030.4(CACNA2D2):c.2235-20C>T
NM_006030.4(CACNA2D2):c.2268C>T (p.Asp756=)
NM_006030.4(CACNA2D2):c.2274C>T (p.Gly758=) rs770033061
NM_006030.4(CACNA2D2):c.2280C>G (p.Thr760=) rs2109410526
NM_006030.4(CACNA2D2):c.2297+16C>G
NM_006030.4(CACNA2D2):c.2298-14C>T
NM_006030.4(CACNA2D2):c.2298-20C>T
NM_006030.4(CACNA2D2):c.2334C>T (p.Phe778=) rs2109409440
NM_006030.4(CACNA2D2):c.2340C>T (p.Ala780=) rs1575585581
NM_006030.4(CACNA2D2):c.2349C>T (p.Tyr783=)
NM_006030.4(CACNA2D2):c.2373T>C (p.Gly791=)
NM_006030.4(CACNA2D2):c.237G>A (p.Gln79=) rs2107090444
NM_006030.4(CACNA2D2):c.2397G>A (p.Gln799=)
NM_006030.4(CACNA2D2):c.2401+12C>T
NM_006030.4(CACNA2D2):c.2416C>T (p.Leu806=) rs1227035819
NM_006030.4(CACNA2D2):c.2433C>T (p.Asp811=) rs907174013
NM_006030.4(CACNA2D2):c.2473C>T (p.Leu825=) rs2109407044
NM_006030.4(CACNA2D2):c.2487A>G (p.Thr829=) rs778441576
NM_006030.4(CACNA2D2):c.2496A>G (p.Pro832=)
NM_006030.4(CACNA2D2):c.2500+19G>A
NM_006030.4(CACNA2D2):c.2500+20G>A
NM_006030.4(CACNA2D2):c.2500+7G>A rs2109406874
NM_006030.4(CACNA2D2):c.2501-11C>G rs1704334349
NM_006030.4(CACNA2D2):c.2501-17C>T
NM_006030.4(CACNA2D2):c.2501-7C>T
NM_006030.4(CACNA2D2):c.2502G>T (p.Val834=)
NM_006030.4(CACNA2D2):c.252G>A (p.Val84=) rs748779161
NM_006030.4(CACNA2D2):c.2559C>T (p.Ser853=) rs2109406213
NM_006030.4(CACNA2D2):c.2577C>T (p.Asp859=) rs1704327750
NM_006030.4(CACNA2D2):c.2589+11_2589+16dup rs759053319
NM_006030.4(CACNA2D2):c.2589+13G>A
NM_006030.4(CACNA2D2):c.2589+17G>A
NM_006030.4(CACNA2D2):c.2589+17G>T
NM_006030.4(CACNA2D2):c.2590-15C>A
NM_006030.4(CACNA2D2):c.2590-16A>C
NM_006030.4(CACNA2D2):c.2590-20C>T
NM_006030.4(CACNA2D2):c.2590-6del rs1337692844
NM_006030.4(CACNA2D2):c.2590-8C>T
NM_006030.4(CACNA2D2):c.2610T>C (p.Cys870=) rs1553725895
NM_006030.4(CACNA2D2):c.2637+13T>C
NM_006030.4(CACNA2D2):c.2637+18C>T
NM_006030.4(CACNA2D2):c.2638-13C>T
NM_006030.4(CACNA2D2):c.2679G>A (p.Val893=) rs2109403510
NM_006030.4(CACNA2D2):c.267A>C (p.Gly89=) rs781051837
NM_006030.4(CACNA2D2):c.267A>T (p.Gly89=)
NM_006030.4(CACNA2D2):c.2709+14AG[2]
NM_006030.4(CACNA2D2):c.2709+17G>C
NM_006030.4(CACNA2D2):c.2709+8T>C rs1575582665
NM_006030.4(CACNA2D2):c.2709+9C>A rs1575582657
NM_006030.4(CACNA2D2):c.2710-16C>T rs746954450
NM_006030.4(CACNA2D2):c.2733G>A (p.Val911=)
NM_006030.4(CACNA2D2):c.2743C>T (p.Leu915=) rs1575582344
NM_006030.4(CACNA2D2):c.2760C>T (p.Tyr920=)
NM_006030.4(CACNA2D2):c.2787G>A (p.Glu929=)
NM_006030.4(CACNA2D2):c.2790C>A (p.Ser930=)
NM_006030.4(CACNA2D2):c.2793T>C (p.Tyr931=) rs768438212
NM_006030.4(CACNA2D2):c.2862+15A>G
NM_006030.4(CACNA2D2):c.2862+8C>T rs2109402195
NM_006030.4(CACNA2D2):c.2863-11C>T
NM_006030.4(CACNA2D2):c.2863-14TC[2] rs747114675
NM_006030.4(CACNA2D2):c.2863-20C>T
NM_006030.4(CACNA2D2):c.2868C>T (p.Thr956=)
NM_006030.4(CACNA2D2):c.2892C>T (p.Ala964=) rs375057280
NM_006030.4(CACNA2D2):c.2915+13C>T
NM_006030.4(CACNA2D2):c.2915+19G>A rs2109401236
NM_006030.4(CACNA2D2):c.2916-18G>A rs2109400667
NM_006030.4(CACNA2D2):c.2916-5T>C rs2109400609
NM_006030.4(CACNA2D2):c.2916-9G>A
NM_006030.4(CACNA2D2):c.2940C>T (p.Tyr980=) rs761003578
NM_006030.4(CACNA2D2):c.294C>T (p.Tyr98=) rs2106892319
NM_006030.4(CACNA2D2):c.2971+15G>A
NM_006030.4(CACNA2D2):c.2971+18G>A
NM_006030.4(CACNA2D2):c.2971+19G>A
NM_006030.4(CACNA2D2):c.2972-14C>T
NM_006030.4(CACNA2D2):c.2972-18C>T rs2109399325
NM_006030.4(CACNA2D2):c.2972-7C>T
NM_006030.4(CACNA2D2):c.2972-9C>T
NM_006030.4(CACNA2D2):c.2988G>A (p.Glu996=) rs1704202539
NM_006030.4(CACNA2D2):c.3003G>A (p.Thr1001=)
NM_006030.4(CACNA2D2):c.3003G>C (p.Thr1001=)
NM_006030.4(CACNA2D2):c.3018C>T (p.Cys1006=)
NM_006030.4(CACNA2D2):c.3072C>T (p.Ala1024=) rs1575579830
NM_006030.4(CACNA2D2):c.3098+11T>A rs2109398374
NM_006030.4(CACNA2D2):c.3098+12G>T
NM_006030.4(CACNA2D2):c.3099-16dup
NM_006030.4(CACNA2D2):c.3099-19C>T rs1025075578
NM_006030.4(CACNA2D2):c.3099-8G>C rs201346112
NM_006030.4(CACNA2D2):c.3099-8G>T rs201346112
NM_006030.4(CACNA2D2):c.309C>T (p.Asn103=)
NM_006030.4(CACNA2D2):c.30C>A (p.Ala10=) rs1216615971
NM_006030.4(CACNA2D2):c.30C>T (p.Ala10=)
NM_006030.4(CACNA2D2):c.3108C>T (p.His1036=)
NM_006030.4(CACNA2D2):c.3111G>C (p.Ala1037=)
NM_006030.4(CACNA2D2):c.3120G>T (p.Leu1040=) rs201510851
NM_006030.4(CACNA2D2):c.3138C>T (p.Leu1046=) rs1303270128
NM_006030.4(CACNA2D2):c.315C>T (p.Phe105=) rs757250670
NM_006030.4(CACNA2D2):c.3171G>A (p.Gln1057=)
NM_006030.4(CACNA2D2):c.3174C>T (p.Cys1058=)
NM_006030.4(CACNA2D2):c.3189G>A (p.Leu1063=)
NM_006030.4(CACNA2D2):c.3195G>A (p.Gln1065=)
NM_006030.4(CACNA2D2):c.3198G>A (p.Lys1066=) rs1415793930
NM_006030.4(CACNA2D2):c.3204G>A (p.Thr1068=)
NM_006030.4(CACNA2D2):c.3208+15C>T
NM_006030.4(CACNA2D2):c.3208+8G>A
NM_006030.4(CACNA2D2):c.3208+8_3208+9insA
NM_006030.4(CACNA2D2):c.3208+9C>G rs1415243762
NM_006030.4(CACNA2D2):c.3208+9C>T
NM_006030.4(CACNA2D2):c.3209-12A>T
NM_006030.4(CACNA2D2):c.3209-13C>T
NM_006030.4(CACNA2D2):c.3209-16C>T rs1368208674
NM_006030.4(CACNA2D2):c.3209-20G>A
NM_006030.4(CACNA2D2):c.3210G>T (p.Ser1070=)
NM_006030.4(CACNA2D2):c.3216C>T (p.Gly1072=) rs1575578007
NM_006030.4(CACNA2D2):c.3261C>A (p.Gly1087=) rs373745348
NM_006030.4(CACNA2D2):c.3261C>T (p.Gly1087=) rs373745348
NM_006030.4(CACNA2D2):c.3267C>T (p.His1089=)
NM_006030.4(CACNA2D2):c.3279C>T (p.Asp1093=) rs2109395112
NM_006030.4(CACNA2D2):c.3291+16G>A
NM_006030.4(CACNA2D2):c.3291+20G>A
NM_006030.4(CACNA2D2):c.3292-12C>G rs751413131
NM_006030.4(CACNA2D2):c.3292-12C>T
NM_006030.4(CACNA2D2):c.3292-4G>A rs373497307
NM_006030.4(CACNA2D2):c.3306C>T (p.Asp1102=)
NM_006030.4(CACNA2D2):c.3318G>A (p.Gly1106=) rs1284536566
NM_006030.4(CACNA2D2):c.3330G>A (p.Pro1110=)
NM_006030.4(CACNA2D2):c.3345C>A (p.Val1115=) rs924946197
NM_006030.4(CACNA2D2):c.3354C>T (p.Ser1118=)
NM_006030.4(CACNA2D2):c.3369C>G (p.Leu1123=) rs77176698
NM_006030.4(CACNA2D2):c.3381G>A (p.Leu1127=)
NM_006030.4(CACNA2D2):c.3387C>G (p.Pro1129=)
NM_006030.4(CACNA2D2):c.3402A>G (p.Gln1134=)
NM_006030.4(CACNA2D2):c.3408C>T (p.Leu1136=)
NM_006030.4(CACNA2D2):c.3414C>T (p.His1138=)
NM_006030.4(CACNA2D2):c.3431G>A (p.Ter1144=) rs1487559434
NM_006030.4(CACNA2D2):c.354G>A (p.Lys118=) rs1708211873
NM_006030.4(CACNA2D2):c.363G>A (p.Gly121=)
NM_006030.4(CACNA2D2):c.393G>A (p.Val131=) rs938781512
NM_006030.4(CACNA2D2):c.405+16G>A rs2106891492
NM_006030.4(CACNA2D2):c.405+7G>A rs2106891509
NM_006030.4(CACNA2D2):c.406-13C>T
NM_006030.4(CACNA2D2):c.406-33_406-17dup
NM_006030.4(CACNA2D2):c.406-5C>G
NM_006030.4(CACNA2D2):c.406-9G>C
NM_006030.4(CACNA2D2):c.423A>G (p.Ala141=) rs1575621496
NM_006030.4(CACNA2D2):c.42C>T (p.Gly14=)
NM_006030.4(CACNA2D2):c.459C>T (p.Asn153=) rs1164412966
NM_006030.4(CACNA2D2):c.465+13G>C
NM_006030.4(CACNA2D2):c.465+8C>A rs1157358450
NM_006030.4(CACNA2D2):c.466-20G>T
NM_006030.4(CACNA2D2):c.466-4C>T rs587676004
NM_006030.4(CACNA2D2):c.489C>T (p.Asp163=) rs1172551444
NM_006030.4(CACNA2D2):c.49C>A (p.Arg17=) rs2107205911
NM_006030.4(CACNA2D2):c.510+10C>T
NM_006030.4(CACNA2D2):c.510+15C>G
NM_006030.4(CACNA2D2):c.510+7A>C
NM_006030.4(CACNA2D2):c.511-13G>A
NM_006030.4(CACNA2D2):c.511-19G>A
NM_006030.4(CACNA2D2):c.511-20C>T
NM_006030.4(CACNA2D2):c.543G>A (p.Gly181=)
NM_006030.4(CACNA2D2):c.57G>A (p.Ala19=) rs2107205850
NM_006030.4(CACNA2D2):c.618G>A (p.Ala206=)
NM_006030.4(CACNA2D2):c.618G>T (p.Ala206=) rs764966137
NM_006030.4(CACNA2D2):c.63C>T (p.Pro21=) rs1575799164
NM_006030.4(CACNA2D2):c.652+12G>A
NM_006030.4(CACNA2D2):c.652+20G>A
NM_006030.4(CACNA2D2):c.652+8T>C
NM_006030.4(CACNA2D2):c.652+8_652+9del rs1553731556
NM_006030.4(CACNA2D2):c.653-14C>T
NM_006030.4(CACNA2D2):c.653-5C>T
NM_006030.4(CACNA2D2):c.653-8C>T rs1401267092
NM_006030.4(CACNA2D2):c.654C>T (p.Ser218=) rs748875935
NM_006030.4(CACNA2D2):c.666C>G (p.Leu222=)
NM_006030.4(CACNA2D2):c.672G>A (p.Glu224=)
NM_006030.4(CACNA2D2):c.678C>T (p.Asn226=)
NM_006030.4(CACNA2D2):c.696G>A (p.Glu232=) rs1575605182
NM_006030.4(CACNA2D2):c.69C>T (p.Pro23=)
NM_006030.4(CACNA2D2):c.723A>G (p.Gln241=) rs2106670091
NM_006030.4(CACNA2D2):c.72C>T (p.Gly24=)
NM_006030.4(CACNA2D2):c.750C>T (p.Phe250=) rs1178298868
NM_006030.4(CACNA2D2):c.756C>T (p.Ser252=) rs761180930
NM_006030.4(CACNA2D2):c.759C>A (p.Ala253=)
NM_006030.4(CACNA2D2):c.765A>T (p.Gly255=) rs1256054678
NM_006030.4(CACNA2D2):c.771T>C (p.Thr257=)
NM_006030.4(CACNA2D2):c.784+15_784+16del
NM_006030.4(CACNA2D2):c.785-12C>G
NM_006030.4(CACNA2D2):c.785-14C>T
NM_006030.4(CACNA2D2):c.785-17C>T
NM_006030.4(CACNA2D2):c.785-20C>T
NM_006030.4(CACNA2D2):c.792G>A (p.Pro264=)
NM_006030.4(CACNA2D2):c.813C>T (p.Ile271=) rs1705261886
NM_006030.4(CACNA2D2):c.81C>G (p.Pro27=)
NM_006030.4(CACNA2D2):c.81C>T (p.Pro27=)
NM_006030.4(CACNA2D2):c.828C>G (p.Val276=) rs2106668197
NM_006030.4(CACNA2D2):c.831A>C (p.Arg277=)
NM_006030.4(CACNA2D2):c.842+16G>A
NM_006030.4(CACNA2D2):c.843-17_843-16del rs1705220781
NM_006030.4(CACNA2D2):c.861G>A (p.Ser287=)
NM_006030.4(CACNA2D2):c.861G>T (p.Ser287=) rs771844125
NM_006030.4(CACNA2D2):c.879C>T (p.Val293=) rs2106664141
NM_006030.4(CACNA2D2):c.894-15G>A
NM_006030.4(CACNA2D2):c.894-20C>T
NM_006030.4(CACNA2D2):c.90C>T (p.Gly30=) rs1054465411
NM_006030.4(CACNA2D2):c.942C>T (p.Val314=) rs889878810
NM_006030.4(CACNA2D2):c.963G>C (p.Leu321=)
NM_006030.4(CACNA2D2):c.96C>T (p.Gly32=)
NM_006030.4(CACNA2D2):c.981G>A (p.Val327=)
NM_006030.4(CACNA2D2):c.984T>C (p.Asn328=)
NM_006030.4(CACNA2D2):c.993+11A>G rs753334859
NM_006030.4(CACNA2D2):c.993+8C>A
NM_006030.4(CACNA2D2):c.994-10G>A rs747341740
NM_006030.4(CACNA2D2):c.994-6C>A rs371991961
NM_006030.4(CACNA2D2):c.994-6del
NM_006030.4(CACNA2D2):c.994-7C>T
NM_006030.4(CACNA2D2):c.994-8T>A rs2106661973
NM_006279.5(ST3GAL3):c.1014C>T (p.Thr338=) rs149000966
NM_006279.5(ST3GAL3):c.1039-14A>G
NM_006279.5(ST3GAL3):c.1077G>A (p.Leu359=)
NM_006279.5(ST3GAL3):c.1095T>G (p.Ala365=) rs2154301076
NM_006279.5(ST3GAL3):c.1125C>T (p.Ile375=)
NM_006279.5(ST3GAL3):c.119-20C>T
NM_006279.5(ST3GAL3):c.119-9G>T rs2154152717
NM_006279.5(ST3GAL3):c.123A>G (p.Ser41=)
NM_006279.5(ST3GAL3):c.144C>G (p.Ser48=)
NM_006279.5(ST3GAL3):c.144C>T (p.Ser48=) rs756428954
NM_006279.5(ST3GAL3):c.147T>C (p.Ala49=)
NM_006279.5(ST3GAL3):c.166+11T>G
NM_006279.5(ST3GAL3):c.166+15C>T
NM_006279.5(ST3GAL3):c.166+18T>C
NM_006279.5(ST3GAL3):c.167-7T>A rs199609363
NM_006279.5(ST3GAL3):c.190C>T (p.Leu64=) rs1573469827
NM_006279.5(ST3GAL3):c.192G>T (p.Leu64=)
NM_006279.5(ST3GAL3):c.209+10A>G
NM_006279.5(ST3GAL3):c.209+13A>T
NM_006279.5(ST3GAL3):c.209+17G>A rs553659855
NM_006279.5(ST3GAL3):c.210-12C>G
NM_006279.5(ST3GAL3):c.210-16C>T
NM_006279.5(ST3GAL3):c.210-6C>T
NM_006279.5(ST3GAL3):c.231G>A (p.Lys77=) rs748703922
NM_006279.5(ST3GAL3):c.246A>G (p.Ser82=) rs2154197428
NM_006279.5(ST3GAL3):c.297C>T (p.Phe99=)
NM_006279.5(ST3GAL3):c.302+10C>T
NM_006279.5(ST3GAL3):c.302+18C>T
NM_006279.5(ST3GAL3):c.302+20T>A
NM_006279.5(ST3GAL3):c.303-18A>G
NM_006279.5(ST3GAL3):c.303-20G>T rs2154266998
NM_006279.5(ST3GAL3):c.303-4C>T
NM_006279.5(ST3GAL3):c.303-8T>C rs2154267024
NM_006279.5(ST3GAL3):c.369C>T (p.Phe123=)
NM_006279.5(ST3GAL3):c.398-15C>T
NM_006279.5(ST3GAL3):c.398-17C>G
NM_006279.5(ST3GAL3):c.398-19C>T
NM_006279.5(ST3GAL3):c.398-20C>A
NM_006279.5(ST3GAL3):c.398-20C>G
NM_006279.5(ST3GAL3):c.398-20C>T
NM_006279.5(ST3GAL3):c.438C>T (p.Tyr146=)
NM_006279.5(ST3GAL3):c.442C>T (p.Leu148=) rs1570937203
NM_006279.5(ST3GAL3):c.461+11C>T
NM_006279.5(ST3GAL3):c.461+15G>C rs759653620
NM_006279.5(ST3GAL3):c.461+20G>A
NM_006279.5(ST3GAL3):c.462-10C>G
NM_006279.5(ST3GAL3):c.462-16G>A
NM_006279.5(ST3GAL3):c.462-16_462-14dup
NM_006279.5(ST3GAL3):c.462-19T>C
NM_006279.5(ST3GAL3):c.471C>T (p.Cys157=) rs2154270556
NM_006279.5(ST3GAL3):c.480C>T (p.Cys160=)
NM_006279.5(ST3GAL3):c.489G>A (p.Val163=) rs2154270571
NM_006279.5(ST3GAL3):c.501C>T (p.Gly167=) rs750351440
NM_006279.5(ST3GAL3):c.525G>A (p.Gly175=) rs2077857161
NM_006279.5(ST3GAL3):c.552G>A (p.Val184=)
NM_006279.5(ST3GAL3):c.557+8C>T rs1298185164
NM_006279.5(ST3GAL3):c.558-11G>A
NM_006279.5(ST3GAL3):c.558-19G>A
NM_006279.5(ST3GAL3):c.558-4G>A
NM_006279.5(ST3GAL3):c.582C>G (p.Gly194=)
NM_006279.5(ST3GAL3):c.609G>C (p.Thr203=)
NM_006279.5(ST3GAL3):c.612A>C (p.Thr204=)
NM_006279.5(ST3GAL3):c.627C>T (p.Tyr209=) rs1060504500
NM_006279.5(ST3GAL3):c.666C>T (p.Arg222=) rs773310944
NM_006279.5(ST3GAL3):c.678T>C (p.Phe226=) rs774370945
NM_006279.5(ST3GAL3):c.687C>T (p.Ala229=)
NM_006279.5(ST3GAL3):c.738G>A (p.Glu246=) rs2154270984
NM_006279.5(ST3GAL3):c.744+18C>A
NM_006279.5(ST3GAL3):c.744+8C>T
NM_006279.5(ST3GAL3):c.745-11T>C
NM_006279.5(ST3GAL3):c.753G>C (p.Ser251=)
NM_006279.5(ST3GAL3):c.762C>T (p.Phe254=)
NM_006279.5(ST3GAL3):c.786G>A (p.Val262=) rs886042469
NM_006279.5(ST3GAL3):c.798C>G (p.Pro266=)
NM_006279.5(ST3GAL3):c.831C>T (p.Ile277=) rs1553140060
NM_006279.5(ST3GAL3):c.837G>A (p.Glu279=)
NM_006279.5(ST3GAL3):c.840C>T (p.Ala280=) rs752116461
NM_006279.5(ST3GAL3):c.864C>T (p.Pro288=)
NM_006279.5(ST3GAL3):c.885C>A (p.Gly295=)
NM_006279.5(ST3GAL3):c.886C>A (p.Arg296=)
NM_006279.5(ST3GAL3):c.891+16C>T
NM_006279.5(ST3GAL3):c.892-11C>G
NM_006279.5(ST3GAL3):c.892-11C>T
NM_006279.5(ST3GAL3):c.892-14C>G
NM_006279.5(ST3GAL3):c.892-5T>C rs2154295248
NM_006279.5(ST3GAL3):c.892-8T>C
NM_006279.5(ST3GAL3):c.912T>C (p.Ser304=) rs1557562991
NM_006279.5(ST3GAL3):c.984A>G (p.Thr328=) rs2082909747
NM_006279.5(ST3GAL3):c.987C>T (p.Pro329=)
NM_006279.5(ST3GAL3):c.996C>G (p.Pro332=) rs2154295296
NM_014191.4(SCN8A):c.630T>C (p.Phe210=) rs2138716083
NM_014191.4(SCN8A):c.672A>G (p.Val224=) rs1592380681
NM_014191.4(SCN8A):c.678G>A (p.Arg226=)
NM_020988.3(GNAO1):c.102G>T (p.Val34=)
NM_020988.3(GNAO1):c.1044C>G (p.Leu348=)
NM_020988.3(GNAO1):c.1053C>T (p.Cys351=)
NM_020988.3(GNAO1):c.111C>T (p.Leu37=)
NM_020988.3(GNAO1):c.118+20C>A
NM_020988.3(GNAO1):c.118+20C>T
NM_020988.3(GNAO1):c.118+3A>G
NM_020988.3(GNAO1):c.118+9C>T
NM_020988.3(GNAO1):c.119-12G>A rs2143271938
NM_020988.3(GNAO1):c.119-14C>G rs769634112
NM_020988.3(GNAO1):c.119-18C>T
NM_020988.3(GNAO1):c.129A>G (p.Glu43=) rs2036187726
NM_020988.3(GNAO1):c.135A>G (p.Gly45=)
NM_020988.3(GNAO1):c.153G>A (p.Lys51=) rs1555499801
NM_020988.3(GNAO1):c.161+14G>T
NM_020988.3(GNAO1):c.161+16A>G
NM_020988.3(GNAO1):c.161+8C>G rs145872570
NM_020988.3(GNAO1):c.168C>T (p.Ile56=)
NM_020988.3(GNAO1):c.174A>G (p.Glu58=) rs1165660073
NM_020988.3(GNAO1):c.201A>G (p.Lys67=) rs2143520908
NM_020988.3(GNAO1):c.204G>A (p.Gln68=) rs1452910276
NM_020988.3(GNAO1):c.24G>A (p.Glu8=) rs2143270247
NM_020988.3(GNAO1):c.261C>T (p.Ala87=) rs2143521053
NM_020988.3(GNAO1):c.282A>G (p.Glu94=) rs2037058709
NM_020988.3(GNAO1):c.303+13G>A
NM_020988.3(GNAO1):c.303+7C>A
NM_020988.3(GNAO1):c.303+9C>T
NM_020988.3(GNAO1):c.304-7C>T rs778867051
NM_020988.3(GNAO1):c.319G>C (p.Val107Leu)
NM_020988.3(GNAO1):c.321G>T (p.Val107=)
NM_020988.3(GNAO1):c.330G>C (p.Val110=) rs1596867599
NM_020988.3(GNAO1):c.33C>T (p.Ala11=) rs1243993397
NM_020988.3(GNAO1):c.351C>G (p.Thr117=) rs770385484
NM_020988.3(GNAO1):c.357C>A (p.Pro119=)
NM_020988.3(GNAO1):c.36C>T (p.Ala12=) rs1596787365
NM_020988.3(GNAO1):c.372G>C (p.Leu124=)
NM_020988.3(GNAO1):c.387G>A (p.Met129Ile)
NM_020988.3(GNAO1):c.390G>A (p.Arg130=)
NM_020988.3(GNAO1):c.427C>T (p.Arg143Trp) rs2143647269
NM_020988.3(GNAO1):c.464+12A>G
NM_020988.3(GNAO1):c.464+14C>T rs745893559
NM_020988.3(GNAO1):c.464+14dup
NM_020988.3(GNAO1):c.464+15G>A rs770008390
NM_020988.3(GNAO1):c.464+7G>A rs2037660949
NM_020988.3(GNAO1):c.465-4T>C rs755412219
NM_020988.3(GNAO1):c.469C>T (p.Leu157=)
NM_020988.3(GNAO1):c.480G>A (p.Leu160=)
NM_020988.3(GNAO1):c.492G>C (p.Gly164=)
NM_020988.3(GNAO1):c.498C>G (p.Ala166=)
NM_020988.3(GNAO1):c.525C>T (p.Ile175=)
NM_020988.3(GNAO1):c.534C>T (p.Thr178=)
NM_020988.3(GNAO1):c.537G>A (p.Arg179=)
NM_020988.3(GNAO1):c.540C>A (p.Val180=) rs2143660697
NM_020988.3(GNAO1):c.555C>A (p.Ile185=)
NM_020988.3(GNAO1):c.570C>T (p.Phe190=)
NM_020988.3(GNAO1):c.585C>T (p.Leu195=) rs1289428537
NM_020988.3(GNAO1):c.593+10A>G rs1596871500
NM_020988.3(GNAO1):c.593+14A>G rs2143660872
NM_020988.3(GNAO1):c.593+16G>A
NM_020988.3(GNAO1):c.593+19C>A
NM_020988.3(GNAO1):c.593+9C>T
NM_020988.3(GNAO1):c.594-10C>T
NM_020988.3(GNAO1):c.594-15C>A rs747946596
NM_020988.3(GNAO1):c.594-20C>T
NM_020988.3(GNAO1):c.594-6C>T
NM_020988.3(GNAO1):c.603C>T (p.Asp201=) rs1385035890
NM_020988.3(GNAO1):c.612C>G (p.Gly204=) rs768258979
NM_020988.3(GNAO1):c.621T>G (p.Ser207=) rs2143664918
NM_020988.3(GNAO1):c.639C>A (p.Ile213=)
NM_020988.3(GNAO1):c.648C>T (p.Phe216=)
NM_020988.3(GNAO1):c.681G>T (p.Ala227=)
NM_020988.3(GNAO1):c.720C>T (p.Thr240=)
NM_020988.3(GNAO1):c.723+10C>T
NM_020988.3(GNAO1):c.723+14G>C
NM_020988.3(GNAO1):c.723+14del
NM_020988.3(GNAO1):c.723+15C>T
NM_020988.3(GNAO1):c.723+20C>T
NM_020988.3(GNAO1):c.723+9C>T
NM_020988.3(GNAO1):c.724-10G>A
NM_020988.3(GNAO1):c.724-16C>T
NM_020988.3(GNAO1):c.754G>A (p.Asp252Asn) rs2037920339
NM_020988.3(GNAO1):c.756C>T (p.Asp252=)
NM_020988.3(GNAO1):c.759C>T (p.Ser253=)
NM_020988.3(GNAO1):c.768C>T (p.Asn256=)
NM_020988.3(GNAO1):c.768CAA[1] (p.Asn257del) rs1567496374
NM_020988.3(GNAO1):c.789C>G (p.Thr263=) rs1265902011
NM_020988.3(GNAO1):c.793A>G (p.Ile265Val) rs2037920534
NM_020988.3(GNAO1):c.804C>T (p.Phe268=)
NM_020988.3(GNAO1):c.820C>A (p.Leu274Ile)
NM_020988.3(GNAO1):c.843G>A (p.Lys281=)
NM_020988.3(GNAO1):c.84C>T (p.Ile28=)
NM_020988.3(GNAO1):c.877+19T>C
NM_020988.3(GNAO1):c.877+7G>C
NM_020988.3(GNAO1):c.877+7G>T rs1596881898
NM_020988.3(GNAO1):c.878-13T>C
NM_020988.3(GNAO1):c.878-18T>C
NM_020988.3(GNAO1):c.878-7G>C rs1370200465
NM_020988.3(GNAO1):c.888C>G (p.Thr296=)
NM_020988.3(GNAO1):c.909C>T (p.Tyr303=) rs773032912
NM_020988.3(GNAO1):c.914A>G (p.Gln305Arg)
NM_020988.3(GNAO1):c.939C>T (p.Arg313=) rs2037954101
NM_020988.3(GNAO1):c.960T>C (p.Tyr320=)
NM_020988.3(GNAO1):c.96A>G (p.Lys32=)
NM_020988.3(GNAO1):c.9T>C (p.Cys3=)
NM_021072.4(HCN1):c.1005A>G (p.Glu335=)
NM_021072.4(HCN1):c.1011+12C>G
NM_021072.4(HCN1):c.1011+16T>A
NM_021072.4(HCN1):c.1012-14A>T rs112775315
NM_021072.4(HCN1):c.1012-18T>G
NM_021072.4(HCN1):c.1012-4G>T rs1739694682
NM_021072.4(HCN1):c.1029G>A (p.Lys343=)
NM_021072.4(HCN1):c.1038A>C (p.Ser346=)
NM_021072.4(HCN1):c.1038A>G (p.Ser346=)
NM_021072.4(HCN1):c.1050C>T (p.Phe350=)
NM_021072.4(HCN1):c.1056T>C (p.Ala352=) rs1579867117
NM_021072.4(HCN1):c.105C>G (p.Ala35=) rs1336522225
NM_021072.4(HCN1):c.1069C>T (p.Leu357=)
NM_021072.4(HCN1):c.1094C>T (p.Ala365Val) rs1739693084
NM_021072.4(HCN1):c.1095C>G (p.Ala365=)
NM_021072.4(HCN1):c.111G>A (p.Lys37=)
NM_021072.4(HCN1):c.1129C>T (p.Leu377=) rs2112040746
NM_021072.4(HCN1):c.1139T>C (p.Ile380Thr) rs1561139596
NM_021072.4(HCN1):c.1146G>A (p.Gly382=)
NM_021072.4(HCN1):c.115C>T (p.Leu39=) rs1359131110
NM_021072.4(HCN1):c.1161C>T (p.Ala387=) rs1579867053
NM_021072.4(HCN1):c.117G>T (p.Leu39=)
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) rs1739691061
NM_021072.4(HCN1):c.1186T>A (p.Leu396Ile) rs1739691000
NM_021072.4(HCN1):c.1212G>A (p.Arg404=) rs1554022673
NM_021072.4(HCN1):c.1215G>A (p.Arg405=) rs770503728
NM_021072.4(HCN1):c.1230+11T>C
NM_021072.4(HCN1):c.1230+12T>A
NM_021072.4(HCN1):c.1230+14T>C rs2112040547
NM_021072.4(HCN1):c.1230+19C>T
NM_021072.4(HCN1):c.1230+8_1230+9dup rs757498614
NM_021072.4(HCN1):c.1231-11C>T
NM_021072.4(HCN1):c.1231-18A>G
NM_021072.4(HCN1):c.1233T>C (p.Tyr411=)
NM_021072.4(HCN1):c.1251C>T (p.Tyr417=)
NM_021072.4(HCN1):c.1257A>G (p.Ser419=)
NM_021072.4(HCN1):c.126G>A (p.Pro42=) rs1740004296
NM_021072.4(HCN1):c.1299T>C (p.Asp433=)
NM_021072.4(HCN1):c.1329C>T (p.Ile443=) rs1579834564
NM_021072.4(HCN1):c.132G>C (p.Gly44=) rs2112109508
NM_021072.4(HCN1):c.1353T>C (p.Asn451=) rs1554020038
NM_021072.4(HCN1):c.1359C>T (p.Leu453=) rs2111983045
NM_021072.4(HCN1):c.135C>G (p.Gly45=)
NM_021072.4(HCN1):c.1377+19A>G
NM_021072.4(HCN1):c.1377+19A>T
NM_021072.4(HCN1):c.1377+7T>C rs1746945188
NM_021072.4(HCN1):c.1378-11G>A
NM_021072.4(HCN1):c.1378-16C>T
NM_021072.4(HCN1):c.1378-4T>G
NM_021072.4(HCN1):c.1378-5T>A rs1579794103
NM_021072.4(HCN1):c.1416A>G (p.Thr472=)
NM_021072.4(HCN1):c.1431T>A (p.Ala477=) rs1299427978
NM_021072.4(HCN1):c.1474A>C (p.Arg492=) rs2111905032
NM_021072.4(HCN1):c.1503T>C (p.Tyr501=) rs1579793982
NM_021072.4(HCN1):c.1510C>T (p.Arg504Ter) rs35229491
NM_021072.4(HCN1):c.1524G>T (p.Val508=)
NM_021072.4(HCN1):c.1539T>C (p.Tyr513=)
NM_021072.4(HCN1):c.1542C>T (p.Phe514=) rs1579793918
NM_021072.4(HCN1):c.1554T>A (p.Gly518=)
NM_021072.4(HCN1):c.1599A>C (p.Thr533=)
NM_021072.4(HCN1):c.159C>T (p.His53=) rs10066808
NM_021072.4(HCN1):c.1618+16G>T
NM_021072.4(HCN1):c.1618+20C>G
NM_021072.4(HCN1):c.1618+20C>T
NM_021072.4(HCN1):c.1618+9A>G
NM_021072.4(HCN1):c.1619-10G>C
NM_021072.4(HCN1):c.1619-19T>C
NM_021072.4(HCN1):c.1619-4A>G rs752222441
NM_021072.4(HCN1):c.1619-5T>C rs1579766462
NM_021072.4(HCN1):c.1619-9T>G
NM_021072.4(HCN1):c.1632G>C (p.Leu544=)
NM_021072.4(HCN1):c.1643G>A (p.Arg548His) rs1554014649
NM_021072.4(HCN1):c.1647T>C (p.Arg549=) rs1744876264
NM_021072.4(HCN1):c.1656T>C (p.Ser552=)
NM_021072.4(HCN1):c.1662A>T (p.Arg554=) rs1472804069
NM_021072.4(HCN1):c.1674T>C (p.Tyr558=) rs2111846818
NM_021072.4(HCN1):c.1680T>C (p.Arg560=) rs1561081385
NM_021072.4(HCN1):c.1695C>T (p.Ser565=) rs553446512
NM_021072.4(HCN1):c.1725A>G (p.Glu575=)
NM_021072.4(HCN1):c.1768C>A (p.Arg590=) rs1744874434
NM_021072.4(HCN1):c.1777C>A (p.Arg593=)
NM_021072.4(HCN1):c.1783+14C>A
NM_021072.4(HCN1):c.1783+16A>G rs770876235
NM_021072.4(HCN1):c.1783+17C>A rs567989576
NM_021072.4(HCN1):c.1783+17C>T rs567989576
NM_021072.4(HCN1):c.1783+18C>T
NM_021072.4(HCN1):c.1783+20T>C
NM_021072.4(HCN1):c.1783+8A>G rs2111846632
NM_021072.4(HCN1):c.1784-19_1784-16del rs746907457
NM_021072.4(HCN1):c.1784-6T>C
NM_021072.4(HCN1):c.1784-7C>T
NM_021072.4(HCN1):c.1809A>G (p.Gln603=)
NM_021072.4(HCN1):c.180G>A (p.Lys60=) rs1215461701
NM_021072.4(HCN1):c.1850A>G (p.Gln617Arg)
NM_021072.4(HCN1):c.1851G>A (p.Gln617=)
NM_021072.4(HCN1):c.1869G>A (p.Lys623=)
NM_021072.4(HCN1):c.1875T>A (p.Ile625=)
NM_021072.4(HCN1):c.189C>A (p.Gly63=) rs1580055249
NM_021072.4(HCN1):c.1908C>T (p.Ile636=) rs1744774998
NM_021072.4(HCN1):c.1914C>T (p.Pro638=)
NM_021072.4(HCN1):c.1917C>A (p.Ile639=) rs764520573
NM_021072.4(HCN1):c.192T>C (p.Gly64=) rs1740002375
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup) rs56064803
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.1938C>T (p.Thr646=)
NM_021072.4(HCN1):c.1941G>A (p.Leu647=) rs924255101
NM_021072.4(HCN1):c.1950A>G (p.Thr650=) rs750304269
NM_021072.4(HCN1):c.1952C>G (p.Ser651Trp) rs771934361
NM_021072.4(HCN1):c.1953G>A (p.Ser651=)
NM_021072.4(HCN1):c.1953G>C (p.Ser651=)
NM_021072.4(HCN1):c.1967C>G (p.Pro656Arg) rs1744773302
NM_021072.4(HCN1):c.1971C>T (p.Thr657=) rs955267493
NM_021072.4(HCN1):c.198C>A (p.Gly66=)
NM_021072.4(HCN1):c.198C>G (p.Gly66=)
NM_021072.4(HCN1):c.1998G>C (p.Pro666=)
NM_021072.4(HCN1):c.200_223del (p.Gly67_Gly74del) rs748849525
NM_021072.4(HCN1):c.2018T>G (p.Leu673Arg)
NM_021072.4(HCN1):c.201T>A (p.Gly67=)
NM_021072.4(HCN1):c.201_206del (p.Gly73_Gly74del)
NM_021072.4(HCN1):c.2025C>T (p.His675=) rs2111839679
NM_021072.4(HCN1):c.2036A>G (p.His679Arg)
NM_021072.4(HCN1):c.2037C>T (p.His679=)
NM_021072.4(HCN1):c.203GCG[10] (p.Gly72_Gly74dup) rs747975797
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[8] (p.Gly74dup) rs747975797
NM_021072.4(HCN1):c.2040C>T (p.Ser680=) rs2111839646
NM_021072.4(HCN1):c.2041C>T (p.Pro681Ser) rs1561079334
NM_021072.4(HCN1):c.2043C>G (p.Pro681=)
NM_021072.4(HCN1):c.2043C>T (p.Pro681=)
NM_021072.4(HCN1):c.2047C>A (p.Pro683Thr) rs745344977
NM_021072.4(HCN1):c.2049C>T (p.Pro683=)
NM_021072.4(HCN1):c.2055A>G (p.Thr685=)
NM_021072.4(HCN1):c.2064C>T (p.Pro688=)
NM_021072.4(HCN1):c.2076C>T (p.Ala692=) rs1016993157
NM_021072.4(HCN1):c.2100C>T (p.Thr700=)
NM_021072.4(HCN1):c.210C>T (p.Gly70=) rs1461727986
NM_021072.4(HCN1):c.2140G>T (p.Ala714Ser) rs775543627
NM_021072.4(HCN1):c.2143C>G (p.Arg715Gly)
NM_021072.4(HCN1):c.2145A>G (p.Arg715=) rs903099002
NM_021072.4(HCN1):c.2159C>A (p.Ala720Asp) rs1744765469
NM_021072.4(HCN1):c.2166C>G (p.Pro722=)
NM_021072.4(HCN1):c.216C>T (p.Gly72=)
NM_021072.4(HCN1):c.2172C>A (p.Ala724=)
NM_021072.4(HCN1):c.2179C>A (p.Leu727Met) rs1744764524
NM_021072.4(HCN1):c.21C>G (p.Pro7=)
NM_021072.4(HCN1):c.2208G>A (p.Gln736=)
NM_021072.4(HCN1):c.2211G>A (p.Gln737=)
NM_021072.4(HCN1):c.2229G>T (p.Pro743=)
NM_021072.4(HCN1):c.223GAG[1] (p.Glu76del) rs754966256
NM_021072.4(HCN1):c.2252C>G (p.Pro751Arg) rs1052640717
NM_021072.4(HCN1):c.2253G>C (p.Pro751=) rs1744762382
NM_021072.4(HCN1):c.2262G>A (p.Gln754=)
NM_021072.4(HCN1):c.2270C>T (p.Thr757Ile) rs1579762677
NM_021072.4(HCN1):c.2326A>G (p.Asn776Asp) rs2111838973
NM_021072.4(HCN1):c.2328C>T (p.Asn776=)
NM_021072.4(HCN1):c.2341C>G (p.Arg781Gly)
NM_021072.4(HCN1):c.234G>A (p.Ala78=) rs752840004
NM_021072.4(HCN1):c.235G>C (p.Gly79Arg)
NM_021072.4(HCN1):c.2379G>A (p.Leu793=)
NM_021072.4(HCN1):c.237G>A (p.Gly79=)
NM_021072.4(HCN1):c.237G>C (p.Gly79=)
NM_021072.4(HCN1):c.2388G>A (p.Glu796=) rs2111838849
NM_021072.4(HCN1):c.2391G>A (p.Val797=)
NM_021072.4(HCN1):c.2433C>T (p.Ser811=)
NM_021072.4(HCN1):c.2439C>A (p.Ala813=)
NM_021072.4(HCN1):c.243C>G (p.Phe81Leu) rs2112109104
NM_021072.4(HCN1):c.2442C>T (p.Ser814=) rs2111838716
NM_021072.4(HCN1):c.2451A>G (p.Gln817=)
NM_021072.4(HCN1):c.2454C>T (p.Pro818=)
NM_021072.4(HCN1):c.2475G>A (p.Thr825=)
NM_021072.4(HCN1):c.2478C>T (p.Gly826=) rs2111838570
NM_021072.4(HCN1):c.2489G>C (p.Gly830Ala) rs2111838550
NM_021072.4(HCN1):c.2538G>A (p.Ser846=)
NM_021072.4(HCN1):c.2550C>A (p.Ile850=)
NM_021072.4(HCN1):c.2550C>T (p.Ile850=)
NM_021072.4(HCN1):c.2555C>A (p.Pro852Gln) rs201368368
NM_021072.4(HCN1):c.2561G>C (p.Arg854Pro) rs1060500094
NM_021072.4(HCN1):c.2562A>C (p.Arg854=) rs2111838209
NM_021072.4(HCN1):c.2565A>G (p.Gly855=) rs1744749557
NM_021072.4(HCN1):c.2568C>A (p.Val856=) rs781250348
NM_021072.4(HCN1):c.256G>A (p.Gly86Arg) rs760568557
NM_021072.4(HCN1):c.258G>A (p.Gly86=)
NM_021072.4(HCN1):c.2598T>C (p.Ala866=) rs894086520
NM_021072.4(HCN1):c.25T>C (p.Ser9Pro) rs1554040148
NM_021072.4(HCN1):c.2635C>T (p.Pro879Ser) rs761866949
NM_021072.4(HCN1):c.2640C>A (p.Asp880Glu)
NM_021072.4(HCN1):c.264G>A (p.Arg88=)
NM_021072.4(HCN1):c.267_268delinsAA (p.Gln90Lys) rs2112109013
NM_021072.4(HCN1):c.279C>T (p.Phe93=) rs2112108977
NM_021072.4(HCN1):c.27T>G (p.Ser9=)
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.297C>A (p.Thr99=) rs749348408
NM_021072.4(HCN1):c.297C>G (p.Thr99=) rs749348408
NM_021072.4(HCN1):c.300C>T (p.Ser100=)
NM_021072.4(HCN1):c.30G>C (p.Ser10=)
NM_021072.4(HCN1):c.30G>T (p.Ser10=) rs1459956316
NM_021072.4(HCN1):c.315G>C (p.Gly105=)
NM_021072.4(HCN1):c.319A>G (p.Asn107Asp) rs2112108878
NM_021072.4(HCN1):c.327C>T (p.Phe109=)
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021072.4(HCN1):c.336C>T (p.Arg112=)
NM_021072.4(HCN1):c.33T>C (p.Ser11=)
NM_021072.4(HCN1):c.357G>T (p.Ala119=)
NM_021072.4(HCN1):c.363A>G (p.Glu121=) rs905624584
NM_021072.4(HCN1):c.372G>A (p.Gln124=)
NM_021072.4(HCN1):c.383A>G (p.Lys128Arg) rs1739995339
NM_021072.4(HCN1):c.390A>C (p.Ala130=)
NM_021072.4(HCN1):c.393C>A (p.Gly131=)
NM_021072.4(HCN1):c.408C>T (p.His136=)
NM_021072.4(HCN1):c.414C>T (p.Tyr138=)
NM_021072.4(HCN1):c.425+10C>G
NM_021072.4(HCN1):c.425+11_425+12dup
NM_021072.4(HCN1):c.425+12C>G rs748471108
NM_021072.4(HCN1):c.425+12C>T
NM_021072.4(HCN1):c.425+13G>T
NM_021072.4(HCN1):c.425+20G>T
NM_021072.4(HCN1):c.425+6G>A
NM_021072.4(HCN1):c.425+7G>A
NM_021072.4(HCN1):c.426-11A>G
NM_021072.4(HCN1):c.426-12T>A rs1338629524
NM_021072.4(HCN1):c.426-19A>T
NM_021072.4(HCN1):c.426-20G>C rs2112032435
NM_021072.4(HCN1):c.426-4G>A rs1054399439
NM_021072.4(HCN1):c.426-7G>T rs765966511
NM_021072.4(HCN1):c.492C>A (p.Ile164=)
NM_021072.4(HCN1):c.519A>T (p.Thr173=) rs934881083
NM_021072.4(HCN1):c.522A>G (p.Pro174=)
NM_021072.4(HCN1):c.549T>C (p.Asp183=)
NM_021072.4(HCN1):c.561A>G (p.Leu187=) rs745915622
NM_021072.4(HCN1):c.564G>A (p.Leu188=)
NM_021072.4(HCN1):c.567C>T (p.Asp189=)
NM_021072.4(HCN1):c.570G>C (p.Leu190=)
NM_021072.4(HCN1):c.636G>T (p.Val212=) rs752579418
NM_021072.4(HCN1):c.643A>G (p.Met215Val) rs975527828
NM_021072.4(HCN1):c.654A>G (p.Leu218=)
NM_021072.4(HCN1):c.660C>T (p.Ser220=)
NM_021072.4(HCN1):c.672T>C (p.Val224=)
NM_021072.4(HCN1):c.681C>A (p.Ile227=) rs2112032005
NM_021072.4(HCN1):c.687C>T (p.Ser229=) rs1442056712
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_021072.4(HCN1):c.78C>G (p.Ser26=) rs1245838252
NM_021072.4(HCN1):c.81G>T (p.Ala27=)
NM_021072.4(HCN1):c.826A>C (p.Arg276=)
NM_021072.4(HCN1):c.840A>G (p.Gln280=)
NM_021072.4(HCN1):c.849+11T>A
NM_021072.4(HCN1):c.849+13T>G
NM_021072.4(HCN1):c.849+15T>C
NM_021072.4(HCN1):c.849+8G>A
NM_021072.4(HCN1):c.84G>C (p.Thr28=) rs1377682866
NM_021072.4(HCN1):c.850-5A>C
NM_021072.4(HCN1):c.858C>T (p.His286=)
NM_021072.4(HCN1):c.876C>T (p.Ala292=) rs1741171103
NM_021072.4(HCN1):c.882A>G (p.Ala294=)
NM_021072.4(HCN1):c.90G>T (p.Ala30=) rs1290982240
NM_021072.4(HCN1):c.93G>T (p.Gly31=)
NM_021072.4(HCN1):c.951C>T (p.Phe317=)
NM_021072.4(HCN1):c.99C>T (p.Ala33=)
NM_139318.5(KCNH5):c.1012C>T (p.Leu338=) rs2140130633
NM_139318.5(KCNH5):c.1023C>T (p.Tyr341=)
NM_139318.5(KCNH5):c.1050G>A (p.Val350=)
NM_139318.5(KCNH5):c.1054C>T (p.Leu352=)
NM_139318.5(KCNH5):c.1063G>A (p.Val355Met) rs2140130579
NM_139318.5(KCNH5):c.1071A>G (p.Gly357=)
NM_139318.5(KCNH5):c.1120G>A (p.Glu374Lys) rs1889977806
NM_139318.5(KCNH5):c.1125C>A (p.Val375=)
NM_139318.5(KCNH5):c.1176G>T (p.Leu392=)
NM_139318.5(KCNH5):c.1197A>G (p.Pro399=)
NM_139318.5(KCNH5):c.123T>G (p.Val41=) rs2139607682
NM_139318.5(KCNH5):c.1254G>A (p.Leu418=)
NM_139318.5(KCNH5):c.1269C>T (p.Leu423=)
NM_139318.5(KCNH5):c.1323C>T (p.Thr441=)
NM_139318.5(KCNH5):c.1332G>A (p.Val444=)
NM_139318.5(KCNH5):c.135C>T (p.Asp45=) rs561005019
NM_139318.5(KCNH5):c.1369+12A>C
NM_139318.5(KCNH5):c.1369+14T>G
NM_139318.5(KCNH5):c.1372C>T (p.Leu458Phe) rs2140045681
NM_139318.5(KCNH5):c.1395A>G (p.Gly465=) rs201996055
NM_139318.5(KCNH5):c.1438C>T (p.Arg480Ter) rs748140384
NM_139318.5(KCNH5):c.1449G>A (p.Glu483=) rs2140045589
NM_139318.5(KCNH5):c.1461T>C (p.Asn487=) rs1268998047
NM_139318.5(KCNH5):c.1473C>T (p.Phe491=)
NM_139318.5(KCNH5):c.1491C>T (p.Val497=)
NM_139318.5(KCNH5):c.1497A>G (p.Lys499=) rs2140045523
NM_139318.5(KCNH5):c.1499G>A (p.Gly500Asp) rs1566681333
NM_139318.5(KCNH5):c.1569+16_1569+24del rs2140045429
NM_139318.5(KCNH5):c.1569+7G>C
NM_139318.5(KCNH5):c.156A>G (p.Gly52=)
NM_139318.5(KCNH5):c.1570-11A>G
NM_139318.5(KCNH5):c.1570-12C>T
NM_139318.5(KCNH5):c.1570-16C>G
NM_139318.5(KCNH5):c.1570-9C>T
NM_139318.5(KCNH5):c.1671G>A (p.Gly557=)
NM_139318.5(KCNH5):c.1680C>G (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1680C>T (p.Arg560=) rs114074278
NM_139318.5(KCNH5):c.1683C>A (p.Ala561=) rs2140000066
NM_139318.5(KCNH5):c.1689G>T (p.Ala563=) rs1197818518
NM_139318.5(KCNH5):c.174C>A (p.Val58=)
NM_139318.5(KCNH5):c.174C>T (p.Val58=) rs938893274
NM_139318.5(KCNH5):c.1791C>T (p.Val597=)
NM_139318.5(KCNH5):c.1819T>C (p.Leu607=)
NM_139318.5(KCNH5):c.1822+11C>G rs2139999911
NM_139318.5(KCNH5):c.1822+14T>C rs776080155
NM_139318.5(KCNH5):c.1823-11C>A
NM_139318.5(KCNH5):c.1823-15T>C
NM_139318.5(KCNH5):c.1823-17C>G
NM_139318.5(KCNH5):c.1823-18T>A
NM_139318.5(KCNH5):c.1866C>G (p.Thr622=)
NM_139318.5(KCNH5):c.1869T>A (p.Leu623=)
NM_139318.5(KCNH5):c.1875T>C (p.His625=)
NM_139318.5(KCNH5):c.1878A>G (p.Ala626=) rs1886172630
NM_139318.5(KCNH5):c.1893G>C (p.Arg631=)
NM_139318.5(KCNH5):c.1926G>T (p.Lys642Asn) rs2139975486
NM_139318.5(KCNH5):c.1929G>A (p.Arg643=)
NM_139318.5(KCNH5):c.1959T>C (p.Tyr653=)
NM_139318.5(KCNH5):c.197+7A>T
NM_139318.5(KCNH5):c.198-11T>C
NM_139318.5(KCNH5):c.198-12T>C
NM_139318.5(KCNH5):c.198-14T>C
NM_139318.5(KCNH5):c.198-15T>C
NM_139318.5(KCNH5):c.198-17T>G
NM_139318.5(KCNH5):c.198-18_198-15del rs758368839
NM_139318.5(KCNH5):c.198-3C>A rs2139597547
NM_139318.5(KCNH5):c.198-3del rs752865520
NM_139318.5(KCNH5):c.198-5C>T
NM_139318.5(KCNH5):c.198-7C>G
NM_139318.5(KCNH5):c.198-9C>T
NM_139318.5(KCNH5):c.1983A>T (p.Ser661=) rs1470600869
NM_139318.5(KCNH5):c.2001T>C (p.Thr667=)
NM_139318.5(KCNH5):c.2001T>G (p.Thr667=)
NM_139318.5(KCNH5):c.2019+13G>T
NM_139318.5(KCNH5):c.2019+15T>C
NM_139318.5(KCNH5):c.2019+7T>C
NM_139318.5(KCNH5):c.2020-15T>C rs1276632605
NM_139318.5(KCNH5):c.2020-18A>C rs748404574
NM_139318.5(KCNH5):c.2020-18A>G rs748404574
NM_139318.5(KCNH5):c.2020-6C>T
NM_139318.5(KCNH5):c.2020-9G>A
NM_139318.5(KCNH5):c.2022C>T (p.Ile674=)
NM_139318.5(KCNH5):c.2040T>C (p.Ser680=)
NM_139318.5(KCNH5):c.2079G>A (p.Lys693=) rs1217652797
NM_139318.5(KCNH5):c.2085G>A (p.Glu695=)
NM_139318.5(KCNH5):c.2106G>A (p.Val702=)
NM_139318.5(KCNH5):c.210G>A (p.Gly70=)
NM_139318.5(KCNH5):c.212A>G (p.Glu71Gly) rs2139597525
NM_139318.5(KCNH5):c.2133G>A (p.Gln711=)
NM_139318.5(KCNH5):c.2151G>A (p.Lys717=)
NM_139318.5(KCNH5):c.2178G>A (p.Gln726=) rs2139899405
NM_139318.5(KCNH5):c.2179_2181delinsCAC (p.Gly727His)
NM_139318.5(KCNH5):c.2181T>A (p.Gly727=) rs750428271
NM_139318.5(KCNH5):c.2214C>T (p.Ser738=)
NM_139318.5(KCNH5):c.2217C>G (p.Arg739=)
NM_139318.5(KCNH5):c.2280C>A (p.Pro760=)
NM_139318.5(KCNH5):c.2280C>T (p.Pro760=) rs1196313969
NM_139318.5(KCNH5):c.22C>T (p.Leu8=)
NM_139318.5(KCNH5):c.2365G>T (p.Gly789Cys) rs140205536
NM_139318.5(KCNH5):c.2382T>G (p.Cys794Trp) rs1884478264
NM_139318.5(KCNH5):c.2415T>C (p.Asn805=)
NM_139318.5(KCNH5):c.2436G>A (p.Leu812=) rs1884476768
NM_139318.5(KCNH5):c.2445G>A (p.Lys815=) rs1253510688
NM_139318.5(KCNH5):c.244A>C (p.Arg82=) rs1594671813
NM_139318.5(KCNH5):c.2463T>C (p.His821=)
NM_139318.5(KCNH5):c.2469G>A (p.Glu823=) rs751823732
NM_139318.5(KCNH5):c.2481C>T (p.Asp827=)
NM_139318.5(KCNH5):c.2514G>A (p.Gly838=)
NM_139318.5(KCNH5):c.2515C>T (p.Leu839=) rs1555351912
NM_139318.5(KCNH5):c.2517A>G (p.Leu839=)
NM_139318.5(KCNH5):c.2529C>T (p.Asp843=)
NM_139318.5(KCNH5):c.2628T>C (p.Asp876=) rs951928918
NM_139318.5(KCNH5):c.2637G>A (p.Gly879=)
NM_139318.5(KCNH5):c.2644C>T (p.Arg882Ter) rs1451729920
NM_139318.5(KCNH5):c.2661C>T (p.His887=) rs931481107
NM_139318.5(KCNH5):c.2673G>A (p.Gln891=) rs2139898715
NM_139318.5(KCNH5):c.2706C>G (p.Pro902=) rs147205656
NM_139318.5(KCNH5):c.2706C>T (p.Pro902=) rs147205656
NM_139318.5(KCNH5):c.2716T>C (p.Leu906=) rs2139898635
NM_139318.5(KCNH5):c.2748A>G (p.Glu916=) rs1368591415
NM_139318.5(KCNH5):c.2769G>A (p.Leu923=) rs1332018030
NM_139318.5(KCNH5):c.2789C>A (p.Ala930Asp) rs562140660
NM_139318.5(KCNH5):c.2793A>G (p.Leu931=)
NM_139318.5(KCNH5):c.2817A>G (p.Leu939=)
NM_139318.5(KCNH5):c.282A>G (p.Glu94=)
NM_139318.5(KCNH5):c.2847G>A (p.Gln949=)
NM_139318.5(KCNH5):c.2859C>T (p.Pro953=)
NM_139318.5(KCNH5):c.2889C>A (p.Pro963=) rs148200469
NM_139318.5(KCNH5):c.2889C>G (p.Pro963=)
NM_139318.5(KCNH5):c.2889C>T (p.Pro963=) rs148200469
NM_139318.5(KCNH5):c.2890dup (p.Gln964fs) rs35940222
NM_139318.5(KCNH5):c.2913T>C (p.Phe971=)
NM_139318.5(KCNH5):c.294C>T (p.Tyr98=) rs1891125928
NM_139318.5(KCNH5):c.304+11C>T
NM_139318.5(KCNH5):c.304+13A>G rs1891125114
NM_139318.5(KCNH5):c.304+17_304+19del
NM_139318.5(KCNH5):c.304+19A>G
NM_139318.5(KCNH5):c.305-14del rs767722355
NM_139318.5(KCNH5):c.306A>G (p.Arg102=)
NM_139318.5(KCNH5):c.309C>A (p.Thr103=)
NM_139318.5(KCNH5):c.30A>G (p.Ala10=)
NM_139318.5(KCNH5):c.315T>A (p.Val105=)
NM_139318.5(KCNH5):c.333T>C (p.Ile111=) rs1349107141
NM_139318.5(KCNH5):c.338C>T (p.Pro113Leu)
NM_139318.5(KCNH5):c.345A>G (p.Arg115=)
NM_139318.5(KCNH5):c.354T>C (p.His118=) rs2139591254
NM_139318.5(KCNH5):c.411A>G (p.Pro137=)
NM_139318.5(KCNH5):c.434-12C>A
NM_139318.5(KCNH5):c.434-18T>C
NM_139318.5(KCNH5):c.434-8T>C
NM_139318.5(KCNH5):c.435T>G (p.Gly145=)
NM_139318.5(KCNH5):c.451C>T (p.Arg151Ter) rs1425163380
NM_139318.5(KCNH5):c.462G>A (p.Arg154=) rs2139575338
NM_139318.5(KCNH5):c.46T>C (p.Leu16=)
NM_139318.5(KCNH5):c.478C>A (p.Arg160=)
NM_139318.5(KCNH5):c.519G>A (p.Glu173=)
NM_139318.5(KCNH5):c.549+17T>A rs1950975
NM_139318.5(KCNH5):c.549+6T>C rs1321587047
NM_139318.5(KCNH5):c.550-13T>G
NM_139318.5(KCNH5):c.550-15T>G
NM_139318.5(KCNH5):c.550-17C>T rs1422234778
NM_139318.5(KCNH5):c.550-21_550-18del rs766820445
NM_139318.5(KCNH5):c.550-7C>G rs1321418069
NM_139318.5(KCNH5):c.550-9C>G rs374202650
NM_139318.5(KCNH5):c.550-9C>T
NM_139318.5(KCNH5):c.566C>T (p.Ser189Leu) rs1381625125
NM_139318.5(KCNH5):c.597G>A (p.Ala199=)
NM_139318.5(KCNH5):c.597G>C (p.Ala199=)
NM_139318.5(KCNH5):c.597G>T (p.Ala199=) rs114341754
NM_139318.5(KCNH5):c.630T>C (p.Tyr210=)
NM_139318.5(KCNH5):c.636T>A (p.Ala212=)
NM_139318.5(KCNH5):c.645T>C (p.Thr215=)
NM_139318.5(KCNH5):c.648T>C (p.Thr216=) rs775889528
NM_139318.5(KCNH5):c.660G>A (p.Val220=)
NM_139318.5(KCNH5):c.66C>T (p.Arg22=)
NM_139318.5(KCNH5):c.676T>G (p.Phe226Val) rs772687794
NM_139318.5(KCNH5):c.678C>T (p.Phe226=)
NM_139318.5(KCNH5):c.684C>T (p.Thr228=)
NM_139318.5(KCNH5):c.729C>T (p.Asn243=) rs2139568497
NM_139318.5(KCNH5):c.73+16G>A
NM_139318.5(KCNH5):c.73+19C>G
NM_139318.5(KCNH5):c.74-7T>G
NM_139318.5(KCNH5):c.786C>T (p.Ile262=) rs2139568391
NM_139318.5(KCNH5):c.825A>G (p.Gly275=)
NM_139318.5(KCNH5):c.885C>T (p.Ile295=)
NM_139318.5(KCNH5):c.888T>C (p.Asp296=)
NM_139318.5(KCNH5):c.894G>A (p.Leu298=) rs142927077
NM_139318.5(KCNH5):c.942+11C>T
NM_139318.5(KCNH5):c.942+12G>A
NM_139318.5(KCNH5):c.942+16T>C
NM_139318.5(KCNH5):c.943-16T>C rs2140130723
NM_139318.5(KCNH5):c.943-5T>A
NM_139318.5(KCNH5):c.975G>T (p.Val325=) rs1451342604
NM_172107.4(KCNQ2):c.1020C>T (p.Ile340=)
NM_172107.4(KCNQ2):c.1023+12T>C
NM_172107.4(KCNQ2):c.1023+15C>A
NM_172107.4(KCNQ2):c.1023+15C>T
NM_172107.4(KCNQ2):c.1023+17C>G rs1057522826
NM_172107.4(KCNQ2):c.1023+7C>T
NM_172107.4(KCNQ2):c.1024-10C>T
NM_172107.4(KCNQ2):c.1024-14C>T rs562506366
NM_172107.4(KCNQ2):c.1024-16_1024-12del
NM_172107.4(KCNQ2):c.1024-32_1024-19dup
NM_172107.4(KCNQ2):c.1024-6C>G rs796052608
NM_172107.4(KCNQ2):c.1024-8C>T
NM_172107.4(KCNQ2):c.1053C>T (p.Leu351=) rs1030017847
NM_172107.4(KCNQ2):c.105C>G (p.Thr35=)
NM_172107.4(KCNQ2):c.105C>T (p.Thr35=) rs2082237874
NM_172107.4(KCNQ2):c.1068G>A (p.Leu356=)
NM_172107.4(KCNQ2):c.1107G>A (p.Val369=)
NM_172107.4(KCNQ2):c.1118+11C>T rs138176417
NM_172107.4(KCNQ2):c.1118+18C>T rs2080900462
NM_172107.4(KCNQ2):c.1118+9G>A
NM_172107.4(KCNQ2):c.1119-14G>A
NM_172107.4(KCNQ2):c.1119-4A>G rs749744963
NM_172107.4(KCNQ2):c.111C>T (p.Asp37=)
NM_172107.4(KCNQ2):c.1143C>T (p.Ala381=)
NM_172107.4(KCNQ2):c.1148+10G>A rs2145654994
NM_172107.4(KCNQ2):c.1148+12A>G
NM_172107.4(KCNQ2):c.1148+13T>C
NM_172107.4(KCNQ2):c.1148+16A>G
NM_172107.4(KCNQ2):c.1148+17C>T
NM_172107.4(KCNQ2):c.1149-16C>T
NM_172107.4(KCNQ2):c.1149-19_1149-18delinsAA rs2145637769
NM_172107.4(KCNQ2):c.1149-5C>T rs2145637691
NM_172107.4(KCNQ2):c.1149-8T>C rs1459803620
NM_172107.4(KCNQ2):c.117G>A (p.Ala39=)
NM_172107.4(KCNQ2):c.1188C>T (p.Asn396=) rs2080694966
NM_172107.4(KCNQ2):c.1209C>G (p.Leu403=) rs752280961
NM_172107.4(KCNQ2):c.1217+16C>G rs2145636880
NM_172107.4(KCNQ2):c.1217+19G>C
NM_172107.4(KCNQ2):c.1218-12dup rs761233540
NM_172107.4(KCNQ2):c.1218-14G>A
NM_172107.4(KCNQ2):c.1224C>T (p.Asp408=) rs1060503977
NM_172107.4(KCNQ2):c.1239G>C (p.Pro413=)
NM_172107.4(KCNQ2):c.123G>C (p.Leu41=) rs1600886191
NM_172107.4(KCNQ2):c.1242T>G (p.Ser414=)
NM_172107.4(KCNQ2):c.1247+14G>C
NM_172107.4(KCNQ2):c.1247+14G>T
NM_172107.4(KCNQ2):c.1247+7G>A
NM_172107.4(KCNQ2):c.1248-10T>C
NM_172107.4(KCNQ2):c.1248-10T>G rs1049810851
NM_172107.4(KCNQ2):c.1248-11_1248-9del
NM_172107.4(KCNQ2):c.1248-18_1248-17del rs2080407380
NM_172107.4(KCNQ2):c.1248-19G>A
NM_172107.4(KCNQ2):c.1248-4C>T rs772465626
NM_172107.4(KCNQ2):c.1257C>T (p.Ser419=)
NM_172107.4(KCNQ2):c.126C>A (p.Ile42=) rs1555881817
NM_172107.4(KCNQ2):c.1281A>C (p.Gly427=)
NM_172107.4(KCNQ2):c.1287C>T (p.Cys429=) rs1457499206
NM_172107.4(KCNQ2):c.1301+12C>A
NM_172107.4(KCNQ2):c.1301+14C>T
NM_172107.4(KCNQ2):c.1301+17C>A
NM_172107.4(KCNQ2):c.1301+17C>T rs371259819
NM_172107.4(KCNQ2):c.1301+18G>A
NM_172107.4(KCNQ2):c.1301+7C>A
NM_172107.4(KCNQ2):c.1301+8G>A rs532111320
NM_172107.4(KCNQ2):c.1301+8G>C rs532111320
NM_172107.4(KCNQ2):c.1301+8G>T rs532111320
NM_172107.4(KCNQ2):c.1302-12C>T
NM_172107.4(KCNQ2):c.1302-13C>A
NM_172107.4(KCNQ2):c.1302-15_1302-14insGTCTGTCA rs2080248150
NM_172107.4(KCNQ2):c.1302-17G>T rs79184652
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC rs1555854853
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTG
NM_172107.4(KCNQ2):c.1308G>A (p.Lys436=) rs1008990254
NM_172107.4(KCNQ2):c.132C>T (p.Gly44=)
NM_172107.4(KCNQ2):c.1335C>T (p.Ser445=) rs1316650494
NM_172107.4(KCNQ2):c.1342C>A (p.Arg448=)
NM_172107.4(KCNQ2):c.1365G>A (p.Lys455=) rs267606052
NM_172107.4(KCNQ2):c.1404C>T (p.Ser468=)
NM_172107.4(KCNQ2):c.1437G>A (p.Lys479=) rs2080240279
NM_172107.4(KCNQ2):c.1446G>A (p.Lys482=)
NM_172107.4(KCNQ2):c.144C>T (p.Pro48=) rs1600886044
NM_172107.4(KCNQ2):c.1467C>T (p.Arg489=) rs767486470
NM_172107.4(KCNQ2):c.1470C>T (p.Ser490=)
NM_172107.4(KCNQ2):c.1494C>A (p.Ile498=) rs2145555496
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1525+13G>A
NM_172107.4(KCNQ2):c.1525+14C>T
NM_172107.4(KCNQ2):c.1525+7del rs2080236526
NM_172107.4(KCNQ2):c.1526-12C>T
NM_172107.4(KCNQ2):c.1526-16G>A
NM_172107.4(KCNQ2):c.1526-18C>A
NM_172107.4(KCNQ2):c.1526-18C>T
NM_172107.4(KCNQ2):c.1526-4C>A rs1396502704
NM_172107.4(KCNQ2):c.1526-6C>A rs763503121
NM_172107.4(KCNQ2):c.1526-7C>A rs761567082
NM_172107.4(KCNQ2):c.1536C>A (p.Leu512=) rs1244500696
NM_172107.4(KCNQ2):c.1542A>G (p.Gly514=)
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1578G>A (p.Glu526=)
NM_172107.4(KCNQ2):c.1593C>T (p.Asp531=) rs1601569482
NM_172107.4(KCNQ2):c.1626C>G (p.Ala542=) rs564614151
NM_172107.4(KCNQ2):c.162C>T (p.Leu54=) rs2145921651
NM_172107.4(KCNQ2):c.1631+12G>A
NM_172107.4(KCNQ2):c.1631+20G>A
NM_172107.4(KCNQ2):c.1632-10C>T
NM_172107.4(KCNQ2):c.1632-12A>C
NM_172107.4(KCNQ2):c.1632-12dup rs745393879
NM_172107.4(KCNQ2):c.1632-13C>T
NM_172107.4(KCNQ2):c.1632-15C>A
NM_172107.4(KCNQ2):c.1632-4G>A rs750925697
NM_172107.4(KCNQ2):c.1632-5T>G
NM_172107.4(KCNQ2):c.1632-6del
NM_172107.4(KCNQ2):c.1632-7C>G
NM_172107.4(KCNQ2):c.1662G>A (p.Lys554=)
NM_172107.4(KCNQ2):c.1665C>T (p.Phe555=) rs372800424
NM_172107.4(KCNQ2):c.1674C>T (p.Ser558=) rs2145542186
NM_172107.4(KCNQ2):c.1686C>T (p.Tyr562=)
NM_172107.4(KCNQ2):c.1725C>T (p.His575=) rs2080187230
NM_172107.4(KCNQ2):c.1735C>T (p.Leu579=)
NM_172107.4(KCNQ2):c.1753C>T (p.Leu585=)
NM_172107.4(KCNQ2):c.1763+11C>T
NM_172107.4(KCNQ2):c.1763+12G>A
NM_172107.4(KCNQ2):c.1763+12G>T
NM_172107.4(KCNQ2):c.1763+14C>G rs767673819
NM_172107.4(KCNQ2):c.1763+16G>T
NM_172107.4(KCNQ2):c.1763+17C>A rs548507063
NM_172107.4(KCNQ2):c.1764-11G>C
NM_172107.4(KCNQ2):c.1764-18G>A rs2145497913
NM_172107.4(KCNQ2):c.1764-18G>T
NM_172107.4(KCNQ2):c.1764-20G>A
NM_172107.4(KCNQ2):c.1782G>A (p.Gly594=)
NM_172107.4(KCNQ2):c.1794G>A (p.Ala598=) rs779158152
NM_172107.4(KCNQ2):c.1794G>T (p.Ala598=) rs779158152
NM_172107.4(KCNQ2):c.1800G>C (p.Thr600=) rs587780368
NM_172107.4(KCNQ2):c.1806G>A (p.Lys602=) rs2145497393
NM_172107.4(KCNQ2):c.1812C>T (p.Arg604=) rs2145497312
NM_172107.4(KCNQ2):c.1815C>G (p.Thr605=)
NM_172107.4(KCNQ2):c.1821C>T (p.Gly607=)
NM_172107.4(KCNQ2):c.1824G>A (p.Pro608=)
NM_172107.4(KCNQ2):c.1827C>G (p.Ala609=)
NM_172107.4(KCNQ2):c.1866G>A (p.Arg622=)
NM_172107.4(KCNQ2):c.1866G>C (p.Arg622=) rs1060503976
NM_172107.4(KCNQ2):c.1869C>A (p.Leu623=)
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=) rs774516728
NM_172107.4(KCNQ2):c.186G>A (p.Ala62=)
NM_172107.4(KCNQ2):c.1887+10G>A rs1422499897
NM_172107.4(KCNQ2):c.1887+10G>T rs1422499897
NM_172107.4(KCNQ2):c.1887+15G>A rs769833989
NM_172107.4(KCNQ2):c.1887+16C>A rs369329706
NM_172107.4(KCNQ2):c.1887+16C>T rs369329706
NM_172107.4(KCNQ2):c.1887+18G>A rs750270667
NM_172107.4(KCNQ2):c.1887+9G>A rs1292936188
NM_172107.4(KCNQ2):c.1888-16G>A
NM_172107.4(KCNQ2):c.18C>T (p.Arg6=)
NM_172107.4(KCNQ2):c.1902G>A (p.Glu634=)
NM_172107.4(KCNQ2):c.1923G>A (p.Val641=) rs2145489065
NM_172107.4(KCNQ2):c.192C>T (p.Ala64=)
NM_172107.4(KCNQ2):c.1950C>T (p.Ile650=) rs772067813
NM_172107.4(KCNQ2):c.1953C>A (p.Pro651=) rs2145488702
NM_172107.4(KCNQ2):c.195G>A (p.Gly65=)
NM_172107.4(KCNQ2):c.195G>C (p.Gly65=)
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
NM_172107.4(KCNQ2):c.1998G>T (p.Pro666=) rs777059029
NM_172107.4(KCNQ2):c.201C>T (p.Pro67=)
NM_172107.4(KCNQ2):c.2025C>T (p.Asp675=)
NM_172107.4(KCNQ2):c.2029C>A (p.Arg677=)
NM_172107.4(KCNQ2):c.2037T>C (p.His679=) rs1162099839
NM_172107.4(KCNQ2):c.204C>G (p.Pro68=) rs750320231
NM_172107.4(KCNQ2):c.2061C>T (p.Val687=) rs543412828
NM_172107.4(KCNQ2):c.2064G>A (p.Lys688=) rs1266457198
NM_172107.4(KCNQ2):c.2067C>A (p.Ile689=)
NM_172107.4(KCNQ2):c.2100C>T (p.Asn700=)
NM_172107.4(KCNQ2):c.2121G>A (p.Ala707=) rs1269199299
NM_172107.4(KCNQ2):c.2124C>G (p.Pro708=)
NM_172107.4(KCNQ2):c.2157G>A (p.Gln719=)
NM_172107.4(KCNQ2):c.2181C>T (p.Gly727=) rs1025748805
NM_172107.4(KCNQ2):c.2226C>T (p.Ile742=)
NM_172107.4(KCNQ2):c.2229G>T (p.Pro743=) rs1481212168
NM_172107.4(KCNQ2):c.2232G>T (p.Pro744=)
NM_172107.4(KCNQ2):c.2241C>G (p.Ala747=)
NM_172107.4(KCNQ2):c.2244C>T (p.His748=) rs376327268
NM_172107.4(KCNQ2):c.2247G>A (p.Glu749=)
NM_172107.4(KCNQ2):c.2268C>T (p.Gly756=)
NM_172107.4(KCNQ2):c.2271G>A (p.Gly757=)
NM_172107.4(KCNQ2):c.2274C>T (p.Gly758=) rs1028898942
NM_172107.4(KCNQ2):c.2295C>T (p.Phe765=)
NM_172107.4(KCNQ2):c.229C>T (p.Leu77=)
NM_172107.4(KCNQ2):c.2313C>G (p.Thr771=) rs1402873637
NM_172107.4(KCNQ2):c.2322C>T (p.Cys774=)
NM_172107.4(KCNQ2):c.2328C>T (p.Pro776=) rs1601542678
NM_172107.4(KCNQ2):c.2346G>A (p.Arg782=) rs1297956699
NM_172107.4(KCNQ2):c.2361C>T (p.Ser787=)
NM_172107.4(KCNQ2):c.2370C>T (p.Ile790=) rs762324514
NM_172107.4(KCNQ2):c.2388G>A (p.Glu796=)
NM_172107.4(KCNQ2):c.2400T>C (p.Arg800=) rs2079953374
NM_172107.4(KCNQ2):c.2403C>G (p.Ser801=)
NM_172107.4(KCNQ2):c.2424C>T (p.Ser808=) rs2145483351
NM_172107.4(KCNQ2):c.2433G>A (p.Lys811=)
NM_172107.4(KCNQ2):c.243C>G (p.Leu81=) rs2145921188
NM_172107.4(KCNQ2):c.2440C>T (p.Leu814=)
NM_172107.4(KCNQ2):c.2475G>A (p.Ala825=) rs1479290036
NM_172107.4(KCNQ2):c.2490C>G (p.Val830=) rs761275840
NM_172107.4(KCNQ2):c.2493G>A (p.Arg831=) rs2145482676
NM_172107.4(KCNQ2):c.2505G>A (p.Ala835=) rs764615246
NM_172107.4(KCNQ2):c.2505G>C (p.Ala835=) rs764615246
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
NM_172107.4(KCNQ2):c.255G>C (p.Leu85=) rs2145921111
NM_172107.4(KCNQ2):c.2577G>A (p.Glu859=) rs1601541438
NM_172107.4(KCNQ2):c.2583C>G (p.Pro861=)
NM_172107.4(KCNQ2):c.258G>A (p.Glu86=)
NM_172107.4(KCNQ2):c.2607G>C (p.Gly869=)
NM_172107.4(KCNQ2):c.27C>T (p.Gly9=) rs368031411
NM_172107.4(KCNQ2):c.288C>T (p.His96=) rs370799364
NM_172107.4(KCNQ2):c.296+11G>A
NM_172107.4(KCNQ2):c.296+15G>C
NM_172107.4(KCNQ2):c.296+20C>T
NM_172107.4(KCNQ2):c.297-10C>T
NM_172107.4(KCNQ2):c.297-13T>A
NM_172107.4(KCNQ2):c.297-15G>A rs775049542
NM_172107.4(KCNQ2):c.297-16C>A
NM_172107.4(KCNQ2):c.297-17G>A
NM_172107.4(KCNQ2):c.297-17G>C rs375745899
NM_172107.4(KCNQ2):c.297-20C>T
NM_172107.4(KCNQ2):c.297-6C>T
NM_172107.4(KCNQ2):c.303C>T (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.306G>C (p.Leu102=) rs1188736335
NM_172107.4(KCNQ2):c.309T>C (p.Val103=) rs1600796985
NM_172107.4(KCNQ2):c.312C>T (p.Phe104=)
NM_172107.4(KCNQ2):c.339C>T (p.Ser113=)
NM_172107.4(KCNQ2):c.345C>T (p.Ile115=)
NM_172107.4(KCNQ2):c.351G>A (p.Glu117=)
NM_172107.4(KCNQ2):c.366G>A (p.Ser122=)
NM_172107.4(KCNQ2):c.36C>G (p.Pro12=)
NM_172107.4(KCNQ2):c.36C>T (p.Pro12=)
NM_172107.4(KCNQ2):c.372G>A (p.Gly124=)
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=) rs1568944870
NM_172107.4(KCNQ2):c.378C>T (p.Leu126=)
NM_172107.4(KCNQ2):c.381C>T (p.Tyr127=)
NM_172107.4(KCNQ2):c.387+19C>T
NM_172107.4(KCNQ2):c.387+9C>G
NM_172107.4(KCNQ2):c.388-6C>T rs1271943231
NM_172107.4(KCNQ2):c.388-8C>T
NM_172107.4(KCNQ2):c.388-9C>G rs371784719
NM_172107.4(KCNQ2):c.388-9C>T rs371784719
NM_172107.4(KCNQ2):c.393C>T (p.Ile131=)
NM_172107.4(KCNQ2):c.39C>T (p.Gly13=)
NM_172107.4(KCNQ2):c.42G>C (p.Pro14=)
NM_172107.4(KCNQ2):c.444A>C (p.Ala148=)
NM_172107.4(KCNQ2):c.447C>G (p.Gly149=)
NM_172107.4(KCNQ2):c.450C>T (p.Cys150=)
NM_172107.4(KCNQ2):c.45C>T (p.Ser15=)
NM_172107.4(KCNQ2):c.477G>A (p.Gly159=)
NM_172107.4(KCNQ2):c.483C>T (p.Leu161=) rs2145778932
NM_172107.4(KCNQ2):c.48G>T (p.Gly16=) rs1411370333
NM_172107.4(KCNQ2):c.510G>T (p.Val170=)
NM_172107.4(KCNQ2):c.514+17G>T
NM_172107.4(KCNQ2):c.514+8C>G
NM_172107.4(KCNQ2):c.514+9T>C rs767715045
NM_172107.4(KCNQ2):c.515-10C>T
NM_172107.4(KCNQ2):c.515-11C>T
NM_172107.4(KCNQ2):c.515-18T>C
NM_172107.4(KCNQ2):c.515-19C>T
NM_172107.4(KCNQ2):c.515-29_515-19del rs2145776444
NM_172107.4(KCNQ2):c.515-4G>C rs1600786663
NM_172107.4(KCNQ2):c.515-8C>G
NM_172107.4(KCNQ2):c.537C>T (p.Ser179=)
NM_172107.4(KCNQ2):c.555C>T (p.Ala185=) rs182946332
NM_172107.4(KCNQ2):c.558C>G (p.Gly186=)
NM_172107.4(KCNQ2):c.57G>A (p.Lys19=)
NM_172107.4(KCNQ2):c.598C>T (p.Leu200=) rs2145775549
NM_172107.4(KCNQ2):c.603C>A (p.Arg201=) rs1057524529
NM_172107.4(KCNQ2):c.630C>A (p.Arg210=) rs1256399477
NM_172107.4(KCNQ2):c.660G>T (p.Leu220=)
NM_172107.4(KCNQ2):c.690+10G>A
NM_172107.4(KCNQ2):c.690+19G>T rs1340686189
NM_172107.4(KCNQ2):c.690+7C>T rs917571411
NM_172107.4(KCNQ2):c.690+9C>G rs369881492
NM_172107.4(KCNQ2):c.690+9C>T rs369881492
NM_172107.4(KCNQ2):c.691-5C>G
NM_172107.4(KCNQ2):c.691-7C>T
NM_172107.4(KCNQ2):c.696G>A (p.Leu232=)
NM_172107.4(KCNQ2):c.696G>C (p.Leu232=) rs2145736763
NM_172107.4(KCNQ2):c.699C>T (p.Val233=) rs2145736709
NM_172107.4(KCNQ2):c.714C>A (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.723T>G (p.Leu241=) rs777739401
NM_172107.4(KCNQ2):c.733C>T (p.Leu245=)
NM_172107.4(KCNQ2):c.738C>T (p.Ala246=) rs2145736209
NM_172107.4(KCNQ2):c.750G>A (p.Val250=)
NM_172107.4(KCNQ2):c.771G>A (p.Glu257=)
NM_172107.4(KCNQ2):c.798T>C (p.Asp266=)
NM_172107.4(KCNQ2):c.813C>T (p.Gly271=) rs1600766224
NM_172107.4(KCNQ2):c.816+20G>A rs1178908886
NM_172107.4(KCNQ2):c.817-12G>T rs2081104441
NM_172107.4(KCNQ2):c.817-17A>G
NM_172107.4(KCNQ2):c.817-18G>A rs1430967332
NM_172107.4(KCNQ2):c.822G>T (p.Thr274=)
NM_172107.4(KCNQ2):c.825G>A (p.Leu275=)
NM_172107.4(KCNQ2):c.837C>G (p.Gly279=)
NM_172107.4(KCNQ2):c.849G>A (p.Lys283=) rs1055291761
NM_172107.4(KCNQ2):c.852C>T (p.Tyr284=)
NM_172107.4(KCNQ2):c.858G>A (p.Gln286=) rs867502020
NM_172107.4(KCNQ2):c.870C>T (p.Gly290=) rs2145719067
NM_172107.4(KCNQ2):c.876C>T (p.Leu292=) rs2081100018
NM_172107.4(KCNQ2):c.882G>A (p.Ala294=)
NM_172107.4(KCNQ2):c.894C>T (p.Thr298=) rs2145718768
NM_172107.4(KCNQ2):c.897C>G (p.Leu299=)
NM_172107.4(KCNQ2):c.927+10G>A
NM_172107.4(KCNQ2):c.927+11C>T
NM_172107.4(KCNQ2):c.927+18del
NM_172107.4(KCNQ2):c.952C>T (p.Leu318=)
NM_172107.4(KCNQ2):c.966G>A (p.Glu322=) rs2145712522
NM_172107.4(KCNQ2):c.96C>T (p.Pro32=) rs2145921995
NM_172107.4(KCNQ2):c.975G>A (p.Arg325=)
NM_172107.4(KCNQ2):c.996G>A (p.Arg332=) rs2145712244
NM_172107.4(KCNQ2):c.9G>A (p.Gln3=)
NM_173728.4(ARHGEF15):c.1048+17C>G
NM_173728.4(ARHGEF15):c.1048+7G>T rs1904909898
NM_173728.4(ARHGEF15):c.1049-15A>G rs2151638840
NM_173728.4(ARHGEF15):c.1049-15_1049-14del
NM_173728.4(ARHGEF15):c.1049-17C>G
NM_173728.4(ARHGEF15):c.1077C>T (p.Ala359=) rs756215355
NM_173728.4(ARHGEF15):c.1080G>A (p.Val360=) rs2151638905
NM_173728.4(ARHGEF15):c.108T>C (p.Pro36=) rs2151634774
NM_173728.4(ARHGEF15):c.1125T>G (p.Ser375=)
NM_173728.4(ARHGEF15):c.123C>T (p.Ser41=)
NM_173728.4(ARHGEF15):c.1260+19A>C
NM_173728.4(ARHGEF15):c.1260+8C>A rs73975818
NM_173728.4(ARHGEF15):c.1261-16C>G rs2151639422
NM_173728.4(ARHGEF15):c.1261-5del rs1203166045
NM_173728.4(ARHGEF15):c.1281G>T (p.Thr427=)
NM_173728.4(ARHGEF15):c.135A>G (p.Glu45=)
NM_173728.4(ARHGEF15):c.1374C>T (p.His458=)
NM_173728.4(ARHGEF15):c.1380A>C (p.Thr460=)
NM_173728.4(ARHGEF15):c.1383C>G (p.Leu461=) rs1597463605
NM_173728.4(ARHGEF15):c.1404C>T (p.Val468=)
NM_173728.4(ARHGEF15):c.1413C>G (p.Val471=)
NM_173728.4(ARHGEF15):c.1421+10T>C
NM_173728.4(ARHGEF15):c.1421+9C>T rs2151639794
NM_173728.4(ARHGEF15):c.1422-13_1422-12del
NM_173728.4(ARHGEF15):c.1518G>A (p.Val506=)
NM_173728.4(ARHGEF15):c.1574+12A>C rs1316325964
NM_173728.4(ARHGEF15):c.1574+12del
NM_173728.4(ARHGEF15):c.1574+14G>T
NM_173728.4(ARHGEF15):c.1575-12C>T
NM_173728.4(ARHGEF15):c.1599C>T (p.Ala533=)
NM_173728.4(ARHGEF15):c.15C>T (p.Ser5=) rs1366729811
NM_173728.4(ARHGEF15):c.1611G>A (p.Arg537=) rs772815565
NM_173728.4(ARHGEF15):c.1636C>A (p.Arg546=)
NM_173728.4(ARHGEF15):c.1644G>A (p.Pro548=)
NM_173728.4(ARHGEF15):c.1668C>T (p.Pro556=)
NM_173728.4(ARHGEF15):c.1686G>A (p.Arg562=) rs755563536
NM_173728.4(ARHGEF15):c.1704+11_1704+12delinsGG rs2151640744
NM_173728.4(ARHGEF15):c.1731G>C (p.Gly577=) rs2151643008
NM_173728.4(ARHGEF15):c.174C>T (p.Cys58=)
NM_173728.4(ARHGEF15):c.1773C>T (p.Val591=)
NM_173728.4(ARHGEF15):c.1780-10C>G rs2151643233
NM_173728.4(ARHGEF15):c.1803G>A (p.Glu601=)
NM_173728.4(ARHGEF15):c.1821G>A (p.Gln607=) rs2151643370
NM_173728.4(ARHGEF15):c.1855C>A (p.Arg619Ser) rs373534537
NM_173728.4(ARHGEF15):c.1873-12G>A
NM_173728.4(ARHGEF15):c.1873-13C>T
NM_173728.4(ARHGEF15):c.1873-14C>A
NM_173728.4(ARHGEF15):c.1881C>G (p.Pro627=)
NM_173728.4(ARHGEF15):c.1884G>C (p.Leu628=)
NM_173728.4(ARHGEF15):c.1887C>T (p.Val629=)
NM_173728.4(ARHGEF15):c.1897C>A (p.Arg633=)
NM_173728.4(ARHGEF15):c.1902C>T (p.Arg634=) rs2151643639
NM_173728.4(ARHGEF15):c.1929G>A (p.Glu643=) rs2151643679
NM_173728.4(ARHGEF15):c.1941G>T (p.Arg647=) rs771555022
NM_173728.4(ARHGEF15):c.1944G>C (p.Arg648Ser) rs201714597
NM_173728.4(ARHGEF15):c.1947G>A (p.Gly649=) rs763594377
NM_173728.4(ARHGEF15):c.1950C>G (p.Gly650=) rs200647100
NM_173728.4(ARHGEF15):c.1962C>T (p.Ala654=)
NM_173728.4(ARHGEF15):c.1965G>A (p.Ser655=) rs781290250
NM_173728.4(ARHGEF15):c.1983T>C (p.Pro661=) rs2151643836
NM_173728.4(ARHGEF15):c.2007C>T (p.Asp669=)
NM_173728.4(ARHGEF15):c.201T>G (p.Ala67=)
NM_173728.4(ARHGEF15):c.2033+10A>G rs758137088
NM_173728.4(ARHGEF15):c.2033+7C>G rs1905199907
NM_173728.4(ARHGEF15):c.2034-20A>G
NM_173728.4(ARHGEF15):c.2049G>A (p.Gln683=) rs2151644084
NM_173728.4(ARHGEF15):c.2064C>T (p.Ala688=)
NM_173728.4(ARHGEF15):c.2091G>A (p.Gln697=) rs2151644159
NM_173728.4(ARHGEF15):c.2154C>T (p.Arg718=) rs1245486698
NM_173728.4(ARHGEF15):c.2157C>T (p.Pro719=) rs1597466665
NM_173728.4(ARHGEF15):c.2223C>G (p.Thr741=)
NM_173728.4(ARHGEF15):c.2241C>T (p.Cys747=)
NM_173728.4(ARHGEF15):c.2253C>T (p.Thr751=)
NM_173728.4(ARHGEF15):c.2269+10C>T
NM_173728.4(ARHGEF15):c.2269+14del
NM_173728.4(ARHGEF15):c.2270-13C>T
NM_173728.4(ARHGEF15):c.2270-8C>G
NM_173728.4(ARHGEF15):c.228G>A (p.Leu76=)
NM_173728.4(ARHGEF15):c.234C>T (p.Pro78=) rs1904677575
NM_173728.4(ARHGEF15):c.2374+15_2374+19del
NM_173728.4(ARHGEF15):c.2374+9G>A rs1905256364
NM_173728.4(ARHGEF15):c.2375-12C>T
NM_173728.4(ARHGEF15):c.2439C>T (p.His813=)
NM_173728.4(ARHGEF15):c.2478C>G (p.Leu826=) rs201613571
NM_173728.4(ARHGEF15):c.2478C>T (p.Leu826=) rs201613571
NM_173728.4(ARHGEF15):c.249C>T (p.Ala83=) rs1305494302
NM_173728.4(ARHGEF15):c.252C>T (p.Ser84=)
NM_173728.4(ARHGEF15):c.267T>C (p.Thr89=) rs766058117
NM_173728.4(ARHGEF15):c.309G>A (p.Val103=)
NM_173728.4(ARHGEF15):c.315G>A (p.Arg105=) rs1429853363
NM_173728.4(ARHGEF15):c.345G>A (p.Arg115=)
NM_173728.4(ARHGEF15):c.357C>T (p.Pro119=)
NM_173728.4(ARHGEF15):c.36C>T (p.Pro12=)
NM_173728.4(ARHGEF15):c.39G>A (p.Thr13=) rs775304849
NM_173728.4(ARHGEF15):c.459G>A (p.Leu153=) rs2151635441
NM_173728.4(ARHGEF15):c.561T>C (p.Ala187=)
NM_173728.4(ARHGEF15):c.576T>C (p.Ser192=)
NM_173728.4(ARHGEF15):c.591C>T (p.Asn197=)
NM_173728.4(ARHGEF15):c.601+14G>T
NM_173728.4(ARHGEF15):c.602-15A>G
NM_173728.4(ARHGEF15):c.602-16T>C
NM_173728.4(ARHGEF15):c.609C>T (p.Gly203=)
NM_173728.4(ARHGEF15):c.627C>T (p.Cys209=) rs2151636121
NM_173728.4(ARHGEF15):c.657T>C (p.Pro219=) rs1252152137
NM_173728.4(ARHGEF15):c.729G>A (p.Pro243=)
NM_173728.4(ARHGEF15):c.732G>T (p.Leu244=)
NM_173728.4(ARHGEF15):c.733C>A (p.Arg245=) rs371870992
NM_173728.4(ARHGEF15):c.759T>C (p.Pro253=) rs1060503817
NM_173728.4(ARHGEF15):c.780C>G (p.Ala260=) rs768476171
NM_173728.4(ARHGEF15):c.780C>T (p.Ala260=)
NM_173728.4(ARHGEF15):c.795C>G (p.Ser265=) rs749526957
NM_173728.4(ARHGEF15):c.888C>A (p.Pro296=)
NM_173728.4(ARHGEF15):c.891A>C (p.Pro297=)
NM_173728.4(ARHGEF15):c.90T>C (p.Ala30=)
NM_173728.4(ARHGEF15):c.934+13G>A
NM_173728.4(ARHGEF15):c.934+14G>A
NM_173728.4(ARHGEF15):c.934+17A>C
NM_173728.4(ARHGEF15):c.934+19T>C
NM_173728.4(ARHGEF15):c.989+12C>A
NM_173728.4(ARHGEF15):c.989+16_989+20dup

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