NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006397.3(RNASEH2A):c.323+1G>T
|
rs1388246689
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.509+1G>A
|
rs1192315307
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_024570.4(RNASEH2B):c.437-1G>A
|
rs777313709
|
0.00001
|
NM_024570.4(RNASEH2B):c.65-13G>A
|
rs1176797481
|
0.00001
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
NC_000020.10:g.(?_35532550)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35539601)_(35547942_?)dup
|
|
|
NC_000020.10:g.(?_35559143)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)dup
|
|
|
NC_000020.10:g.(?_35569432)_(35569524_?)dup
|
|
|
NC_000020.11:g.(?_36927172)_(36927262_?)dup
|
|
|
NC_000020.11:g.(?_36930750)_(36930885_?)dup
|
|
|
NM_001111.5(ADAR):c.1602-2A>G
|
|
|
NM_001111.5(ADAR):c.1786-1G>C
|
|
|
NM_001111.5(ADAR):c.2763-1G>A
|
|
|
NM_001111.5(ADAR):c.2886-1del
|
rs1696896431
|
|
NM_006397.3(RNASEH2A):c.127+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.199+1G>C
|
|
|
NM_006397.3(RNASEH2A):c.200-1G>T
|
|
|
NM_006397.3(RNASEH2A):c.323+1G>A
|
rs1388246689
|
|
NM_006397.3(RNASEH2A):c.549+1G>A
|
|
|
NM_006397.3(RNASEH2A):c.638-2A>G
|
rs2145830162
|
|
NM_015474.4(SAMHD1):c.1271-1G>C
|
|
|
NM_015474.4(SAMHD1):c.1271-2A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+1G>A
|
|
|
NM_015474.4(SAMHD1):c.1608+1G>A
|
rs373731440
|
|
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)
|
rs1990238054
|
|
NM_015474.4(SAMHD1):c.1609-2A>G
|
rs1700306908
|
|
NM_015474.4(SAMHD1):c.349-1G>A
|
rs1251155562
|
|
NM_015474.4(SAMHD1):c.349-2A>T
|
rs2146137671
|
|
NM_015474.4(SAMHD1):c.625+1G>A
|
rs1601141002
|
|
NM_015474.4(SAMHD1):c.626-1G>C
|
rs2146127849
|
|
NM_015474.4(SAMHD1):c.696+2T>C
|
|
|
NM_015474.4(SAMHD1):c.697-1G>T
|
rs2146119643
|
|
NM_015474.4(SAMHD1):c.697-2A>G
|
|
|
NM_015474.4(SAMHD1):c.852+1G>A
|
|
|
NM_015474.4(SAMHD1):c.852+1G>T
|
rs780504624
|
|
NM_015474.4(SAMHD1):c.853-1G>C
|
|
|
NM_015474.4(SAMHD1):c.953+1G>A
|
rs2146117027
|
|
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)
|
rs923064561
|
|
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)
|
rs75325951
|
|
NM_024570.4(RNASEH2B):c.245-2A>C
|
|
|
NM_024570.4(RNASEH2B):c.245-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.322-2A>T
|
|
|
NM_024570.4(RNASEH2B):c.322-3C>G
|
|
|
NM_024570.4(RNASEH2B):c.436+1G>A
|
rs80087649
|
|
NM_024570.4(RNASEH2B):c.510+1del
|
rs1593470515
|
|
NM_024570.4(RNASEH2B):c.511-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.617-2A>G
|
|
|
NM_024570.4(RNASEH2B):c.65-1G>A
|
|
|
NM_024570.4(RNASEH2B):c.698+1G>C
|
|
|
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
|
|
|
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)
|
rs757478752
|
|
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)
|
rs1553820518
|
|
NM_033629.6(TREX1):c.858dup (p.Leu287fs)
|
rs2107265977
|
|