NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)
|
rs750901301
|
0.00001
|
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)
|
|
|
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)
|
rs794726797
|
|
NM_001165963.4(SCN1A):c.1028+1del
|
rs886041980
|
|
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)
|
rs1574240716
|
|
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs)
|
rs2105867534
|
|
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
|
rs1698009615
|
|
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
|
rs1553547448
|
|
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
|
rs1698004184
|
|
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
|
|
|
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)
|
rs2105862220
|
|
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)
|
rs781507889
|
|
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)
|
rs886042528
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
|
|
|
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)
|
rs1553545740
|
|
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
|
|
|
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)
|
rs1574217232
|
|
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs)
|
rs1553544470
|
|
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
|
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
|
rs1697127484
|
|
NM_001165963.4(SCN1A):c.2415+1G>T
|
|
|
NM_001165963.4(SCN1A):c.2415+2T>C
|
rs1574201555
|
|
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)
|
|
|
NM_001165963.4(SCN1A):c.2589+1G>C
|
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.265-2143G>A
|
rs1574312497
|
|
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)
|
rs1266877537
|
|
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
|
|
|
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)
|
rs794726721
|
|
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2815del (p.His939fs)
|
|
|
NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)
|
|
|
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)
|
rs121918796
|
|
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)
|
rs794729207
|
|
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)
|
rs1696403356
|
|
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)
|
rs1696401617
|
|
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
|
rs1696400496
|
|
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)
|
rs796052991
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
|
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)
|
rs1553553462
|
|
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)
|
rs2105917940
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.384-12A>C
|
rs1574291210
|
|
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn)
|
rs1698961617
|
|
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
|
rs1698960532
|
|
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)
|
rs1553551493
|
|
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)
|
rs796052957
|
|
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)
|
rs374555589
|
|
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)
|
rs1698747852
|
|
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)
|
rs796052961
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)
|
rs1057519530
|
|
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)
|
rs1574271644
|
|
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)
|
rs2105890296
|
|
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)
|
rs121918735
|
|
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)
|
rs2105889854
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)
|
rs779184118
|
|