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
|
|
|