NM_017838.4(NHP2):c.160+16G>C
|
rs41285577
|
0.01797
|
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln)
|
rs145890370
|
0.00615
|
NM_017838.4(NHP2):c.270A>G (p.Val90=)
|
rs148179279
|
0.00121
|
NM_017838.4(NHP2):c.190G>A (p.Val64Met)
|
rs79031130
|
0.00038
|
NM_017838.4(NHP2):c.160+18G>T
|
rs202078932
|
0.00027
|
NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)
|
rs200150979
|
0.00013
|
NM_017838.4(NHP2):c.72C>T (p.Tyr24=)
|
rs202221169
|
0.00011
|
NM_017838.4(NHP2):c.230+17C>T
|
rs766892858
|
0.00006
|
NM_017838.4(NHP2):c.289A>G (p.Met97Val)
|
rs372840247
|
0.00006
|
NM_017838.4(NHP2):c.290T>C (p.Met97Thr)
|
rs147530082
|
0.00006
|
NM_017838.4(NHP2):c.328T>A (p.Ser110Thr)
|
rs780696831
|
0.00006
|
NM_017838.4(NHP2):c.105G>A (p.Ala35=)
|
rs373176167
|
0.00005
|
NM_017838.4(NHP2):c.335C>T (p.Thr112Met)
|
rs768262654
|
0.00004
|
NM_017838.4(NHP2):c.109C>T (p.Pro37Ser)
|
rs201390429
|
0.00003
|
NM_017838.4(NHP2):c.231-20_231-19del
|
rs1491337170
|
0.00003
|
NM_017838.4(NHP2):c.336+12G>A
|
rs202050768
|
0.00003
|
NM_017838.4(NHP2):c.112C>T (p.Leu38=)
|
rs925125777
|
0.00002
|
NM_017838.4(NHP2):c.138G>C (p.Lys46Asn)
|
rs761328868
|
0.00002
|
NM_017838.4(NHP2):c.160+8G>A
|
rs777793268
|
0.00002
|
NM_017838.4(NHP2):c.195A>G (p.Lys65=)
|
rs543057099
|
0.00002
|
NM_017838.4(NHP2):c.235A>T (p.Met79Leu)
|
rs377700562
|
0.00002
|
NM_017838.4(NHP2):c.289_290del (p.Met97fs)
|
rs762821341
|
0.00002
|
NM_017838.4(NHP2):c.70T>A (p.Tyr24Asn)
|
rs757358075
|
0.00002
|
NM_017838.4(NHP2):c.160+9G>A
|
rs756638436
|
0.00001
|
NM_017838.4(NHP2):c.161-2A>T
|
rs766032992
|
0.00001
|
NM_017838.4(NHP2):c.182G>A (p.Arg61Gln)
|
rs769920343
|
0.00001
|
NM_017838.4(NHP2):c.215A>G (p.Asn72Ser)
|
rs1756325870
|
0.00001
|
NM_017838.4(NHP2):c.230+19C>G
|
rs1244247196
|
0.00001
|
NM_017838.4(NHP2):c.236T>C (p.Met79Thr)
|
rs1426285845
|
0.00001
|
NM_017838.4(NHP2):c.25G>A (p.Asp9Asn)
|
rs769331750
|
0.00001
|
NM_017838.4(NHP2):c.292T>G (p.Cys98Gly)
|
rs201129701
|
0.00001
|
NM_017838.4(NHP2):c.336G>A (p.Thr112=)
|
rs746472214
|
0.00001
|
NM_017838.4(NHP2):c.67A>G (p.Thr23Ala)
|
rs1196159721
|
0.00001
|
NC_000005.10:g.(?_178149693)_(178153837_?)del
|
|
|
NC_000005.10:g.(?_178149693)_(178153837_?)dup
|
|
|
NM_017838.4(NHP2):c.104C>T (p.Ala35Val)
|
|
|
NM_017838.4(NHP2):c.106dup (p.Gln36fs)
|
rs1756333644
|
|
NM_017838.4(NHP2):c.115G>A (p.Ala39Thr)
|
|
|
NM_017838.4(NHP2):c.116C>A (p.Ala39Asp)
|
rs1439650238
|
|
NM_017838.4(NHP2):c.120_122del (p.Arg42del)
|
|
|
NM_017838.4(NHP2):c.122_129del (p.Arg41fs)
|
rs1756332858
|
|
NM_017838.4(NHP2):c.130A>T (p.Thr44Ser)
|
|
|
NM_017838.4(NHP2):c.132G>A (p.Thr44=)
|
rs764657822
|
|
NM_017838.4(NHP2):c.155A>G (p.Lys52Arg)
|
rs2113476542
|
|
NM_017838.4(NHP2):c.156G>C (p.Lys52Asn)
|
|
|
NM_017838.4(NHP2):c.157A>G (p.Lys53Glu)
|
|
|
NM_017838.4(NHP2):c.15G>A (p.Lys5=)
|
|
|
NM_017838.4(NHP2):c.160+10A>C
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+10A>G
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+10A>T
|
rs376220034
|
|
NM_017838.4(NHP2):c.160+11C>A
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+11C>G
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+11C>T
|
rs201274409
|
|
NM_017838.4(NHP2):c.160+12G>A
|
|
|
NM_017838.4(NHP2):c.160+13G>A
|
rs2113476424
|
|
NM_017838.4(NHP2):c.160+14C>A
|
|
|
NM_017838.4(NHP2):c.160+16G>A
|
|
|
NM_017838.4(NHP2):c.160+4A>C
|
rs1419452406
|
|
NM_017838.4(NHP2):c.160+4A>G
|
|
|
NM_017838.4(NHP2):c.160+5G>C
|
|
|
NM_017838.4(NHP2):c.160+7C>T
|
|
|
NM_017838.4(NHP2):c.160+9del
|
|
|
NM_017838.4(NHP2):c.160G>A (p.Ala54Thr)
|
|
|
NM_017838.4(NHP2):c.161-15C>G
|
rs774227396
|
|
NM_017838.4(NHP2):c.161-4G>A
|
|
|
NM_017838.4(NHP2):c.161-5T>G
|
|
|
NM_017838.4(NHP2):c.161-7G>A
|
|
|
NM_017838.4(NHP2):c.161-8C>T
|
|
|
NM_017838.4(NHP2):c.162G>C (p.Ala54=)
|
|
|
NM_017838.4(NHP2):c.163G>A (p.Val55Met)
|
rs1756327381
|
|
NM_017838.4(NHP2):c.167A>G (p.Lys56Arg)
|
rs2113476084
|
|
NM_017838.4(NHP2):c.172A>C (p.Lys58Gln)
|
|
|
NM_017838.4(NHP2):c.177G>C (p.Gln59His)
|
rs2113476075
|
|
NM_017838.4(NHP2):c.17C>T (p.Ala6Val)
|
|
|
NM_017838.4(NHP2):c.181C>T (p.Arg61Trp)
|
rs773420072
|
|
NM_017838.4(NHP2):c.186C>G (p.Arg62=)
|
|
|
NM_017838.4(NHP2):c.187G>C (p.Gly63Arg)
|
rs1756326801
|
|
NM_017838.4(NHP2):c.18A>G (p.Ala6=)
|
|
|
NM_017838.4(NHP2):c.196G>A (p.Glu66Lys)
|
|
|
NM_017838.4(NHP2):c.197_198del (p.Glu66fs)
|
rs1333837047
|
|
NM_017838.4(NHP2):c.19G>C (p.Asp7His)
|
rs1581138326
|
|
NM_017838.4(NHP2):c.204G>T (p.Gln68His)
|
|
|
NM_017838.4(NHP2):c.210T>C (p.Phe70=)
|
|
|
NM_017838.4(NHP2):c.213C>G (p.Val71=)
|
rs575702154
|
|
NM_017838.4(NHP2):c.216C>G (p.Asn72Lys)
|
|
|
NM_017838.4(NHP2):c.220G>A (p.Gly74Arg)
|
|
|
NM_017838.4(NHP2):c.228A>C (p.Lys76Asn)
|
rs2113475874
|
|
NM_017838.4(NHP2):c.230+13C>A
|
|
|
NM_017838.4(NHP2):c.230+13C>T
|
rs1561645171
|
|
NM_017838.4(NHP2):c.230+16C>T
|
|
|
NM_017838.4(NHP2):c.230+4dup
|
rs1581137979
|
|
NM_017838.4(NHP2):c.230+8C>A
|
rs764940566
|
|
NM_017838.4(NHP2):c.231-13TC[2]
|
|
|
NM_017838.4(NHP2):c.231-13dup
|
|
|
NM_017838.4(NHP2):c.231-17_231-16del
|
rs572960228
|
|
NM_017838.4(NHP2):c.231-20dup
|
|
|
NM_017838.4(NHP2):c.231-9T>C
|
|
|
NM_017838.4(NHP2):c.231G>C (p.Gly77=)
|
|
|
NM_017838.4(NHP2):c.233T>A (p.Ile78Asn)
|
rs1348885486
|
|
NM_017838.4(NHP2):c.237G>A (p.Met79Ile)
|
rs1561644268
|
|
NM_017838.4(NHP2):c.24C>G (p.Pro8=)
|
|
|
NM_017838.4(NHP2):c.259C>T (p.Pro87Ser)
|
|
|
NM_017838.4(NHP2):c.262A>G (p.Ile88Val)
|
|
|
NM_017838.4(NHP2):c.266A>C (p.Glu89Ala)
|
|
|
NM_017838.4(NHP2):c.267G>A (p.Glu89=)
|
|
|
NM_017838.4(NHP2):c.267_270del (p.Glu89fs)
|
rs754436041
|
|
NM_017838.4(NHP2):c.27C>T (p.Asp9=)
|
rs1178370439
|
|
NM_017838.4(NHP2):c.28G>A (p.Gly10Arg)
|
|
|
NM_017838.4(NHP2):c.2T>G (p.Met1Arg)
|
|
|
NM_017838.4(NHP2):c.314A>G (p.Tyr105Cys)
|
rs772671488
|
|
NM_017838.4(NHP2):c.319T>A (p.Tyr107Asn)
|
|
|
NM_017838.4(NHP2):c.319dup (p.Tyr107fs)
|
|
|
NM_017838.4(NHP2):c.320A>G (p.Tyr107Cys)
|
rs760076146
|
|
NM_017838.4(NHP2):c.324C>T (p.Ile108=)
|
|
|
NM_017838.4(NHP2):c.326C>T (p.Pro109Leu)
|
|
|
NM_017838.4(NHP2):c.336+11C>T
|
|
|
NM_017838.4(NHP2):c.336+18C>T
|
|
|
NM_017838.4(NHP2):c.336+20_336+21del
|
|
|
NM_017838.4(NHP2):c.336+20del
|
rs542745432
|
|
NM_017838.4(NHP2):c.336+2T>C
|
|
|
NM_017838.4(NHP2):c.33C>G (p.Pro11=)
|
|
|
NM_017838.4(NHP2):c.34G>C (p.Glu12Gln)
|
rs1296058145
|
|
NM_017838.4(NHP2):c.45G>A (p.Ala15=)
|
|
|
NM_017838.4(NHP2):c.53G>A (p.Cys18Tyr)
|
rs1373808491
|
|
NM_017838.4(NHP2):c.60G>C (p.Gly20=)
|
|
|
NM_017838.4(NHP2):c.61dup (p.Glu21fs)
|
rs780613876
|
|
NM_017838.4(NHP2):c.68C>T (p.Thr23Ile)
|
rs1341101133
|
|
NM_017838.4(NHP2):c.80T>A (p.Leu27Gln)
|
|
|