|
NM_001182.5(ALDH7A1):c.241C>T (p.Arg81Ter)
|
rs757377110
|
0.00002
|
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
|
NM_001182.5(ALDH7A1):c.246+1G>A
|
rs764588746
|
0.00001
|
|
NM_001267550.2(TTN):c.38876-2A>C
|
rs1185989004
|
0.00001
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
|
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp)
|
rs886039054
|
|
|
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
|
rs773775991
|
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
|
NM_000426.4(LAMA2):c.2718del (p.Phe906fs)
|
|
|
|
NM_000810.4(GABRA5):c.880G>T (p.Val294Phe)
|
rs1595438243
|
|
|
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
|
rs796053367
|
|
|
NM_001032221.6(STXBP1):c.170-1G>C
|
rs112002192
|
|
|
NM_001040142.2(SCN2A):c.4789T>C (p.Phe1597Leu)
|
|
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
|
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)
|
rs886039373
|
|
|
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)
|
rs756384471
|
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
|
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter)
|
rs794726697
|
|
|
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His)
|
rs794726718
|
|
|
NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg)
|
|
|
|
NM_001165963.4(SCN1A):c.2946+2T>C
|
|
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
|
NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp)
|
|
|
|
NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn)
|
|
|
|
NM_001182.5(ALDH7A1):c.1327G>T (p.Glu443Ter)
|
|
|
|
NM_001182.5(ALDH7A1):c.388_518-1428del
|
|
|
|
NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter)
|
|
|
|
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)
|
rs2138711868
|
|
|
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val)
|
rs796053220
|
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
|
NM_001372.4(DNAH9):c.5266C>T (p.Gln1756Ter)
|
|
|
|
NM_001694.4(ATP6V0C):c.467A>T (p.Ter156Leu)
|
rs2065899210
|
|
|
NM_002641.4(PIGA):c.1030_1032del (p.Leu344del)
|
rs587777399
|
|
|
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys)
|
rs2146360458
|
|
|
NM_004006.3(DMD):c.515_516dup (p.Ile173fs)
|
|
|
|
NM_004006.3(DMD):c.5932del (p.Arg1978fs)
|
|
|
|
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg)
|
rs886037942
|
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
|
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter)
|
rs1392520466
|
|
|
NM_005249.5(FOXG1):c.841del (p.Arg281fs)
|
|
|
|
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter)
|
rs1196005021
|
|
|
NM_006306.4(SMC1A):c.3123del (p.Ser1042fs)
|
|
|
|
NM_018129.3(PNPO):c.620delG
|
|
|
|
NM_018129.4(PNPO):c.546+1G>A
|
|
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
|
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg)
|
rs1588385233
|
|
|
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly)
|
rs587777055
|
|
|
NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)
|
|
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
|
NM_152296.5(ATP1A3):c.2479A>T (p.Arg827Trp)
|
|
|
|
NM_152296.5(ATP1A3):c.2552A>C (p.Gln851Pro)
|
|
|
|
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del)
|
rs1553265761
|
|
|
NM_170707.4(LMNA):c.1381-2A>C
|
|
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
|
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)
|
rs796052623
|
|
|
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)
|
rs770187706
|
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
|
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)
|
rs2145719551
|
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
|
Single allele
|
|
|