|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
|
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)
|
rs375876694
|
0.00002
|
|
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)
|
rs369691608
|
0.00001
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
|
NM_001145073.3(USP27X):c.310_311del (p.Asp104fs)
|
rs1601932069
|
|
|
NM_001172509.2(SATB2):c.598-2A>G
|
rs1574554519
|
|
|
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly)
|
rs1603401125
|
|
|
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)
|
rs1060505033
|
|
|
NM_001378418.1(TCF20):c.3803_3804del (p.Arg1268fs)
|
rs1569146542
|
|
|
NM_001379110.1(SLC9A6):c.637+1G>A
|
rs1603198937
|
|
|
NM_002025.4(AFF2):c.3229C>T (p.Gln1077Ter)
|
rs1603350606
|
|
|
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)
|
rs1597665063
|
|
|
NM_003124.5(SPR):c.305-2A>G
|
rs1573882268
|
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
|
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu)
|
rs1570600997
|
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
|
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu)
|
rs1431778557
|
|
|
NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs)
|
rs1597846084
|
|
|
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)
|
rs780680047
|
|
|
NM_020435.4(GJC2):c.107del (p.Ile36fs)
|
rs1571907430
|
|
|
NM_021120.4(DLG3):c.1375_1378del (p.Val459fs)
|
rs1602880906
|
|
|
NM_130839.5(UBE3A):c.983_987del (p.Tyr328fs)
|
rs1595808957
|
|
|
NM_139058.3(ARX):c.1446_1448+1dup
|
rs1601946481
|
|
|
NM_153252.5(BRWD3):c.3791del (p.Ser1264fs)
|
rs1602308324
|
|
|
Single allele
|
|
|