NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_001282225.2(ADA2):c.753G>A (p.Pro251=)
|
rs369924229
|
0.00009
|
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)
|
rs376785840
|
0.00007
|
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg)
|
rs45511697
|
0.00006
|
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter)
|
rs368615054
|
0.00006
|
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)
|
rs770689762
|
0.00004
|
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)
|
rs148936893
|
0.00004
|
NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter)
|
rs755007390
|
0.00002
|
NM_001282225.2(ADA2):c.336C>G (p.His112Gln)
|
rs587777241
|
0.00002
|
NM_001282225.2(ADA2):c.940_941del (p.Lys314fs)
|
rs768987774
|
0.00002
|
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)
|
rs775440641
|
0.00001
|
NM_001282225.2(ADA2):c.2T>C (p.Met1Thr)
|
rs745795188
|
0.00001
|
NC_000022.10:g.(?_17663474)_(17663671_?)del
|
|
|
NC_000022.10:g.(?_17669209)_(17672720_?)del
|
|
|
NC_000022.10:g.(?_17684433)_(17690567_?)del
|
|
|
NC_000022.11:g.(?_17188319)_(17188467_?)del
|
|
|
NM_001282225.2(ADA2):c.1040del (p.Asp347fs)
|
rs2062064773
|
|
NM_001282225.2(ADA2):c.1055del (p.Pro352fs)
|
|
|
NM_001282225.2(ADA2):c.1058_1061del (p.Tyr353fs)
|
|
|
NM_001282225.2(ADA2):c.1086_1087delinsTT (p.Trp362_Gln363delinsCysTer)
|
|
|
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys)
|
rs1489114116
|
|
NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp)
|
|
|
NM_001282225.2(ADA2):c.1196G>A (p.Trp399Ter)
|
rs1568966771
|
|
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser)
|
rs777618863
|
|
NM_001282225.2(ADA2):c.1303_1319del (p.His434_Pro435insTer)
|
|
|
NM_001282225.2(ADA2):c.1362_1370del (p.Asp454_Tyr456del)
|
rs1452477558
|
|
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp)
|
rs748893301
|
|
NM_001282225.2(ADA2):c.137dup (p.Arg49fs)
|
|
|
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs)
|
rs754904956
|
|
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg)
|
rs202134424
|
|
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp)
|
rs202134424
|
|
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)
|
rs200930463
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001282225.2(ADA2):c.1430dup (p.Met477fs)
|
rs2061972270
|
|
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs)
|
rs1601419986
|
|
NM_001282225.2(ADA2):c.144del (p.Arg49fs)
|
rs756881285
|
|
NM_001282225.2(ADA2):c.144dup (p.Arg49fs)
|
rs756881285
|
|
NM_001282225.2(ADA2):c.158del (p.Asn53fs)
|
rs2062393838
|
|
NM_001282225.2(ADA2):c.239del (p.Phe80fs)
|
|
|
NM_001282225.2(ADA2):c.271del (p.His91fs)
|
rs2062392148
|
|
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys)
|
rs745795188
|
|
NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp)
|
rs587777240
|
|
NM_001282225.2(ADA2):c.39C>A (p.Cys13Ter)
|
|
|
NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp)
|
rs775997344
|
|
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)
|
|
|
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del)
|
rs2123699776
|
|
NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)
|
|
|
NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter)
|
|
|
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs)
|
rs766602945
|
|
NM_001282225.2(ADA2):c.753+2T>A
|
|
|
NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser)
|
rs587777242
|
|
NM_001282225.2(ADA2):c.881+1G>A
|
rs2123651193
|
|
NM_001282225.2(ADA2):c.882-2A>G
|
rs2062095528
|
|
NM_001282225.2(ADA2):c.[1196G>A;1367A>G]
|
|
|