NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser)
|
rs796053120
|
0.00001
|
NM_001040142.2(SCN2A):c.1027G>C (p.Asp343His)
|
rs796053175
|
|
NM_001040142.2(SCN2A):c.1027G>T (p.Asp343Tyr)
|
rs796053175
|
|
NM_001040142.2(SCN2A):c.1028A>T (p.Asp343Val)
|
rs1057524164
|
|
NM_001040142.2(SCN2A):c.1119del (p.Leu375fs)
|
rs1697569199
|
|
NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu)
|
rs796053178
|
|
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)
|
rs796053181
|
|
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala)
|
rs796053183
|
|
NM_001040142.2(SCN2A):c.1649del (p.Lys550fs)
|
rs886039710
|
|
NM_001040142.2(SCN2A):c.1729del (p.Leu577fs)
|
rs2105276746
|
|
NM_001040142.2(SCN2A):c.1747C>T (p.Arg583Ter)
|
rs1553571901
|
|
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
|
rs746060762
|
|
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)
|
rs1698166561
|
|
NM_001040142.2(SCN2A):c.2017-2A>G
|
rs2105284299
|
|
NM_001040142.2(SCN2A):c.2354del (p.Glu785fs)
|
rs1553574729
|
|
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)
|
rs1553578503
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
NM_001040142.2(SCN2A):c.2562+1G>T
|
rs796053113
|
|
NM_001040142.2(SCN2A):c.2562+2T>C
|
rs1574636792
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
NM_001040142.2(SCN2A):c.2567G>A (p.Arg856Gln)
|
rs797045942
|
|
NM_001040142.2(SCN2A):c.2581del (p.Ala861fs)
|
rs1574641366
|
|
NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs)
|
rs1064793850
|
|
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
|
rs796053116
|
|
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)
|
rs1699477928
|
|
NM_001040142.2(SCN2A):c.2715G>C (p.Lys905Asn)
|
rs796053119
|
|
NM_001040142.2(SCN2A):c.2809C>T (p.Arg937Cys)
|
rs796053197
|
|
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
|
rs1553579488
|
|
NM_001040142.2(SCN2A):c.2823dup (p.Glu942fs)
|
rs1553579500
|
|
NM_001040142.2(SCN2A):c.2844G>A (p.Trp948Ter)
|
|
|
NM_001040142.2(SCN2A):c.2942dup (p.Leu981fs)
|
rs1553583550
|
|
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)
|
rs796053124
|
|
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly)
|
rs1057523786
|
|
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)
|
rs796053126
|
|
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
|
rs387906683
|
|
NM_001040142.2(SCN2A):c.3391del (p.Ser1131fs)
|
rs1064796203
|
|
NM_001040142.2(SCN2A):c.3401del (p.Lys1134fs)
|
rs796053192
|
|
NM_001040142.2(SCN2A):c.3520+1G>T
|
|
|
NM_001040142.2(SCN2A):c.3579_3580del (p.Trp1194fs)
|
rs1553590192
|
|
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)
|
rs387906684
|
|
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter)
|
rs1085307500
|
|
NM_001040142.2(SCN2A):c.386+2T>C
|
rs1553564400
|
|
NM_001040142.2(SCN2A):c.387-2A>G
|
rs796053169
|
|
NM_001040142.2(SCN2A):c.3892G>T (p.Glu1298Ter)
|
rs1553593030
|
|
NM_001040142.2(SCN2A):c.3944G>A (p.Arg1315Lys)
|
rs796053129
|
|
NM_001040142.2(SCN2A):c.3947C>T (p.Ala1316Val)
|
rs796053130
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu)
|
rs121917753
|
|
NM_001040142.2(SCN2A):c.3977T>A (p.Val1326Asp)
|
rs796053131
|
|
NM_001040142.2(SCN2A):c.3985G>T (p.Ala1329Ser)
|
rs1057524059
|
|
NM_001040142.2(SCN2A):c.3997G>A (p.Ala1333Thr)
|
rs796053132
|
|
NM_001040142.2(SCN2A):c.4036A>G (p.Ile1346Val)
|
rs796053135
|
|
NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)
|
rs1697221269
|
|
NM_001040142.2(SCN2A):c.425del (p.Asn142fs)
|
rs796053196
|
|
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)
|
rs796053137
|
|
NM_001040142.2(SCN2A):c.4267G>T (p.Gly1423Ter)
|
rs1553461660
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.4308+1G>A
|
rs886039648
|
|
NM_001040142.2(SCN2A):c.4349A>G (p.Tyr1450Cys)
|
rs1131691951
|
|
NM_001040142.2(SCN2A):c.4371dup (p.Ile1458fs)
|
rs1131691361
|
|
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr)
|
rs1085307898
|
|
NM_001040142.2(SCN2A):c.4425C>G (p.Asn1475Lys)
|
|
|
NM_001040142.2(SCN2A):c.4446+1A>G
|
rs2105384790
|
|
NM_001040142.2(SCN2A):c.4461C>G (p.Asp1487Glu)
|
rs1553462203
|
|
NM_001040142.2(SCN2A):c.4474GAA[1] (p.Glu1493del)
|
rs796053194
|
|
NM_001040142.2(SCN2A):c.4494del (p.Tyr1497_Tyr1498insTer)
|
rs1553462224
|
|
NM_001040142.2(SCN2A):c.4517C>A (p.Ser1506Ter)
|
rs1287017958
|
|
NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter)
|
rs1553463032
|
|
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val)
|
rs796053150
|
|
NM_001040142.2(SCN2A):c.4642A>G (p.Met1548Val)
|
|
|
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val)
|
rs121917750
|
|
NM_001040142.2(SCN2A):c.4691_4692del (p.Tyr1564fs)
|
rs1553463074
|
|
NM_001040142.2(SCN2A):c.4718T>C (p.Leu1573Pro)
|
rs796053152
|
|
NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs)
|
rs1553463096
|
|
NM_001040142.2(SCN2A):c.4730A>G (p.Glu1577Gly)
|
|
|
NM_001040142.2(SCN2A):c.476+1G>A
|
rs2105241466
|
|
NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg)
|
rs886041259
|
|
NM_001040142.2(SCN2A):c.4865C>G (p.Pro1622Arg)
|
rs1558885489
|
|
NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter)
|
rs1060503102
|
|
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)
|
rs796053155
|
|
NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met)
|
rs796053156
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln)
|
rs1057520844
|
|
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met)
|
rs796053160
|
|
NM_001040142.2(SCN2A):c.4912C>T (p.Arg1638Cys)
|
rs1702006147
|
|
NM_001040142.2(SCN2A):c.4948C>T (p.Leu1650Phe)
|
rs1702008323
|
|
NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro)
|
rs1702008435
|
|
NM_001040142.2(SCN2A):c.517A>T (p.Lys173Ter)
|
rs1553567304
|
|
NM_001040142.2(SCN2A):c.5272A>C (p.Ser1758Arg)
|
rs1064794005
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.5405G>A (p.Trp1802Ter)
|
rs1553463634
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly)
|
rs796053166
|
|
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)
|
rs796053166
|
|
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln)
|
rs794727444
|
|
NM_001040142.2(SCN2A):c.5645G>T (p.Arg1882Leu)
|
rs794727444
|
|
NM_001040142.2(SCN2A):c.605+1G>A
|
|
|
NM_001040142.2(SCN2A):c.605+1G>T
|
rs796053171
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
NM_001040142.2(SCN2A):c.708del (p.Ile237fs)
|
rs796053198
|
|
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)
|
rs1064795014
|
|
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)
|
rs1553567864
|
|
NM_001040142.2(SCN2A):c.721del (p.Ala240_Leu241insTer)
|
rs2105247197
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter)
|
rs181327458
|
|
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
|
|
|