NM_015474.4(SAMHD1):c.276-105C>A
|
rs6030312
|
0.44115
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
NM_015474.4(SAMHD1):c.348+18T>G
|
rs181987130
|
0.00206
|
NM_015474.3(SAMHD1):c.-166G>T
|
rs546207604
|
0.00197
|
NM_015474.3(SAMHD1):c.-110T>C
|
rs28372906
|
0.00188
|
NM_015474.4(SAMHD1):c.275+8T>A
|
rs186225001
|
0.00086
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00041
|
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)
|
rs149267802
|
0.00039
|
NM_015474.4(SAMHD1):c.-31T>C
|
rs142162198
|
0.00038
|
NM_015474.4(SAMHD1):c.-39C>A
|
rs368233437
|
0.00038
|
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)
|
rs140804613
|
0.00034
|
NM_015474.4(SAMHD1):c.1411-18G>A
|
rs373910542
|
0.00029
|
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile)
|
rs144353824
|
0.00029
|
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=)
|
rs200856791
|
0.00026
|
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)
|
rs142393072
|
0.00012
|
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)
|
rs202024857
|
0.00011
|
NM_015474.4(SAMHD1):c.697-11A>G
|
rs200458478
|
0.00011
|
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)
|
rs371992324
|
0.00009
|
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys)
|
rs199896513
|
0.00009
|
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His)
|
rs147891080
|
0.00009
|
NM_015474.4(SAMHD1):c.696+14C>T
|
rs145884935
|
0.00009
|
NM_015474.4(SAMHD1):c.697-13T>C
|
rs368766286
|
0.00008
|
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)
|
rs775762131
|
0.00007
|
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)
|
rs374642075
|
0.00007
|
NM_015474.4(SAMHD1):c.-10A>G
|
rs199721283
|
0.00006
|
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)
|
rs149098281
|
0.00006
|
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)
|
rs767413799
|
0.00006
|
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)
|
rs757642528
|
0.00005
|
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=)
|
rs151189478
|
0.00004
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile)
|
rs145323435
|
0.00004
|
NM_015474.4(SAMHD1):c.208+8C>T
|
rs543987630
|
0.00004
|
NM_015474.4(SAMHD1):c.349-18T>C
|
rs372746139
|
0.00004
|
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=)
|
rs767971429
|
0.00004
|
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)
|
rs754519810
|
0.00004
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe)
|
rs1356154563
|
0.00003
|
NM_015474.4(SAMHD1):c.534A>C (p.Leu178=)
|
rs771148482
|
0.00003
|
NM_015474.4(SAMHD1):c.795T>C (p.Ile265=)
|
rs770681043
|
0.00003
|
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp)
|
rs202019609
|
0.00003
|
NM_015474.4(SAMHD1):c.90A>C (p.Ala30=)
|
rs780812058
|
0.00003
|
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=)
|
rs756532676
|
0.00003
|
NM_015474.4(SAMHD1):c.1063-6C>T
|
rs751597956
|
0.00002
|
NM_015474.4(SAMHD1):c.1224C>A (p.Arg408=)
|
rs963896466
|
0.00002
|
NM_015474.4(SAMHD1):c.1359A>G (p.Leu453=)
|
rs142183953
|
0.00002
|
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val)
|
rs751309562
|
0.00002
|
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)
|
rs373079404
|
0.00002
|
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)
|
rs529220118
|
0.00002
|
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe)
|
rs780617865
|
0.00002
|
NM_015474.4(SAMHD1):c.209-4A>G
|
rs961575949
|
0.00002
|
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)
|
rs760417947
|
0.00002
|
NM_015474.4(SAMHD1):c.384C>T (p.Leu128=)
|
rs756023341
|
0.00002
|
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg)
|
rs761306482
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)
|
rs139804668
|
0.00002
|
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys)
|
rs747675634
|
0.00002
|
NM_015474.4(SAMHD1):c.897G>A (p.Glu299=)
|
rs766301679
|
0.00002
|
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)
|
rs962672070
|
0.00001
|
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His)
|
rs201250022
|
0.00001
|
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg)
|
rs2063734567
|
0.00001
|
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp)
|
rs1232169509
|
0.00001
|
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser)
|
rs1273114275
|
0.00001
|
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys)
|
rs761561066
|
0.00001
|
NM_015474.4(SAMHD1):c.1125A>G (p.Gln375=)
|
rs201876333
|
0.00001
|
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp)
|
rs773888401
|
0.00001
|
NM_015474.4(SAMHD1):c.1154+9C>T
|
rs377745198
|
0.00001
|
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly)
|
rs916801950
|
0.00001
|
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile)
|
rs759140727
|
0.00001
|
NM_015474.4(SAMHD1):c.120C>T (p.Pro40=)
|
rs1164431300
|
0.00001
|
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)
|
rs776994886
|
0.00001
|
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His)
|
rs140417977
|
0.00001
|
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys)
|
rs745950444
|
0.00001
|
NM_015474.4(SAMHD1):c.1257T>C (p.Tyr419=)
|
rs1441301586
|
0.00001
|
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser)
|
rs754153159
|
0.00001
|
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser)
|
rs1233436073
|
0.00001
|
NM_015474.4(SAMHD1):c.126C>T (p.Tyr42=)
|
rs754233641
|
0.00001
|
NM_015474.4(SAMHD1):c.1270+17A>G
|
rs2063437409
|
0.00001
|
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr)
|
rs1311797673
|
0.00001
|
NM_015474.4(SAMHD1):c.1350C>T (p.Tyr450=)
|
rs537446646
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>C (p.Tyr456=)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1380G>A (p.Thr460=)
|
rs544083526
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
0.00001
|
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly)
|
rs145360072
|
0.00001
|
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly)
|
rs1451618642
|
0.00001
|
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=)
|
rs140157384
|
0.00001
|
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser)
|
rs886645360
|
0.00001
|
NM_015474.4(SAMHD1):c.1455C>G (p.Pro485=)
|
rs879334178
|
0.00001
|
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly)
|
rs747437917
|
0.00001
|
NM_015474.4(SAMHD1):c.1503+16A>G
|
rs1287287488
|
0.00001
|
NM_015474.4(SAMHD1):c.1518T>C (p.Asp506=)
|
rs1300340729
|
0.00001
|
NM_015474.4(SAMHD1):c.153C>T (p.Cys51=)
|
rs774247016
|
0.00001
|
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala)
|
rs770504610
|
0.00001
|
NM_015474.4(SAMHD1):c.1609-17C>A
|
rs1260090439
|
0.00001
|
NM_015474.4(SAMHD1):c.1609-1G>T
|
rs515726143
|
0.00001
|
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)
|
rs121434519
|
0.00001
|
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys)
|
rs6130037
|
0.00001
|
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)
|
rs779491090
|
0.00001
|
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=)
|
rs1448113794
|
0.00001
|
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp)
|
rs1568788278
|
0.00001
|
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu)
|
rs752755786
|
0.00001
|
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly)
|
rs768245328
|
0.00001
|
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys)
|
rs765628260
|
0.00001
|
NM_015474.4(SAMHD1):c.204C>T (p.Ile68=)
|
rs2063733926
|
0.00001
|
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)
|
rs141599277
|
0.00001
|
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn)
|
rs751790128
|
0.00001
|
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His)
|
rs1274894909
|
0.00001
|
NM_015474.4(SAMHD1):c.275+15A>C
|
rs2063688866
|
0.00001
|
NM_015474.4(SAMHD1):c.288G>A (p.Glu96=)
|
rs780159863
|
0.00001
|
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)
|
rs758586131
|
0.00001
|
NM_015474.4(SAMHD1):c.300G>A (p.Leu100=)
|
rs1045346655
|
0.00001
|
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter)
|
rs779028596
|
0.00001
|
NM_015474.4(SAMHD1):c.333C>T (p.His111=)
|
rs1396545191
|
0.00001
|
NM_015474.4(SAMHD1):c.348+9A>T
|
rs2063640460
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
0.00001
|
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)
|
rs1216724127
|
0.00001
|
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter)
|
rs752442185
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly)
|
rs1235922763
|
0.00001
|
NM_015474.4(SAMHD1):c.448C>T (p.Leu150=)
|
rs1404231193
|
0.00001
|
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys)
|
rs1306109528
|
0.00001
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.509+1G>A
|
rs1192315307
|
0.00001
|
NM_015474.4(SAMHD1):c.510-17G>A
|
rs1555835836
|
0.00001
|
NM_015474.4(SAMHD1):c.510-7T>C
|
rs1033373260
|
0.00001
|
NM_015474.4(SAMHD1):c.513G>T (p.Val171=)
|
rs903077482
|
0.00001
|
NM_015474.4(SAMHD1):c.537T>A (p.Val179=)
|
rs749581263
|
0.00001
|
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)
|
rs1455837248
|
0.00001
|
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)
|
rs748150321
|
0.00001
|
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)
|
rs781223072
|
0.00001
|
NM_015474.4(SAMHD1):c.567G>A (p.Leu189=)
|
rs947611800
|
0.00001
|
NM_015474.4(SAMHD1):c.57G>A (p.Pro19=)
|
rs1032186742
|
0.00001
|
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)
|
rs1300333132
|
0.00001
|
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe)
|
rs1053324143
|
0.00001
|
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=)
|
rs764763884
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_015474.4(SAMHD1):c.626-5T>C
|
rs768848252
|
0.00001
|
NM_015474.4(SAMHD1):c.626-9G>C
|
rs1371988530
|
0.00001
|
NM_015474.4(SAMHD1):c.63C>T (p.Thr21=)
|
rs775849448
|
0.00001
|
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)
|
rs768019897
|
0.00001
|
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)
|
rs515726146
|
0.00001
|
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)
|
rs1335417539
|
0.00001
|
NM_015474.4(SAMHD1):c.681G>A (p.Pro227=)
|
rs144587056
|
0.00001
|
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=)
|
rs763408711
|
0.00001
|
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro)
|
rs757614478
|
0.00001
|
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val)
|
rs754150741
|
0.00001
|
NM_015474.4(SAMHD1):c.786A>G (p.Glu262=)
|
rs1195297197
|
0.00001
|
NM_015474.4(SAMHD1):c.840C>T (p.Val280=)
|
rs17853622
|
0.00001
|
NM_015474.4(SAMHD1):c.852+6T>C
|
rs1360565476
|
0.00001
|
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)
|
rs551472065
|
0.00001
|
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)
|
rs1300702859
|
0.00001
|
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys)
|
rs1351629453
|
0.00001
|
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)
|
rs755046462
|
0.00001
|
NM_015474.4(SAMHD1):c.9A>G (p.Arg3=)
|
rs1568788547
|
0.00001
|
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
|
|
|
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
|
|
|
NC_000020.10:g.(?_35526205)_(35580046_?)dup
|
|
|
NC_000020.10:g.(?_35532550)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35539601)_(35547942_?)dup
|
|
|
NC_000020.10:g.(?_35539601)_(35580066_?)dup
|
|
|
NC_000020.10:g.(?_35545105)_(35547942_?)del
|
|
|
NC_000020.10:g.(?_35545115)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35547747)_(35547942_?)del
|
|
|
NC_000020.10:g.(?_35555575)_(35559288_?)del
|
|
|
NC_000020.10:g.(?_35559143)_(35563612_?)dup
|
|
|
NC_000020.10:g.(?_35559143)_(35575227_?)dup
|
|
|
NC_000020.10:g.(?_35563412)_(35563612_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35569534_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35580046_?)dup
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)dup
|
|
|
NC_000020.10:g.(?_35569432)_(35569524_?)dup
|
|
|
NC_000020.10:g.(?_35575121)_(35580046_?)del
|
|
|
NC_000020.11:g.(?_36927172)_(36927262_?)dup
|
|
|
NC_000020.11:g.(?_36930750)_(36930885_?)dup
|
|
|
NC_000020.11:g.(?_36946728)_(36951653_?)del
|
|
|
NC_000020.11:g.(?_36951426)_(36951653_?)del
|
|
|
NC_000020.11:g.(?_36951436)_(36951643_?)del
|
|
|
NC_000020.11:g.36904246CCT[1]
|
|
|
NC_000020.11:g.36935169_36935190dup
|
|
|
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu)
|
rs2146116896
|
|
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
|
|
|
NM_015474.4(SAMHD1):c.1014C>T (p.Ala338=)
|
rs1238026198
|
|
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu)
|
rs2063734567
|
|
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs)
|
rs752942007
|
|
NM_015474.4(SAMHD1):c.1020C>T (p.Val340=)
|
|
|
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer)
|
rs2063478568
|
|
NM_015474.4(SAMHD1):c.1023T>C (p.Cys341=)
|
rs2146116863
|
|
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
|
|
|
NM_015474.4(SAMHD1):c.1026A>G (p.Glu342=)
|
|
|
NM_015474.4(SAMHD1):c.102G>T (p.Pro34=)
|
|
|
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
|
|
|
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs)
|
rs2146116814
|
|
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala)
|
rs886056648
|
|
NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=)
|
|
|
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp)
|
rs751026561
|
|
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
|
|
|
NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=)
|
rs1601130032
|
|
NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=)
|
|
|
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
|
|
|
NM_015474.4(SAMHD1):c.1062+12C>T
|
|
|
NM_015474.4(SAMHD1):c.1062+14G>C
|
|
|
NM_015474.4(SAMHD1):c.1062+17G>A
|
rs375919445
|
|
NM_015474.4(SAMHD1):c.1062+19G>C
|
|
|
NM_015474.4(SAMHD1):c.1062+7T>C
|
rs2146116764
|
|
NM_015474.4(SAMHD1):c.1062+8G>A
|
|
|
NM_015474.4(SAMHD1):c.1063-13T>C
|
|
|
NM_015474.4(SAMHD1):c.1063-15C>A
|
|
|
NM_015474.4(SAMHD1):c.1063-16T>G
|
|
|
NM_015474.4(SAMHD1):c.1063-4G>T
|
rs2148365781
|
|
NM_015474.4(SAMHD1):c.1063-7C>T
|
|
|
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)
|
rs546930607
|
|
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile)
|
rs2148365764
|
|
NM_015474.4(SAMHD1):c.108G>A (p.Leu36=)
|
|
|
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala)
|
rs1478441405
|
|
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn)
|
rs2063446998
|
|
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys)
|
rs138089277
|
|
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
|
|
|
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs)
|
rs2063446897
|
|
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser)
|
rs515726139
|
|
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys)
|
rs774991764
|
|
NM_015474.4(SAMHD1):c.111A>G (p.Glu37=)
|
rs779493555
|
|
NM_015474.4(SAMHD1):c.1122T>C (p.Tyr374=)
|
rs1255201901
|
|
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter)
|
rs2148365710
|
|
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
|
|
|
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
|
|
|
NM_015474.4(SAMHD1):c.1143T>C (p.Ile381=)
|
|
|
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)
|
rs515726140
|
|
NM_015474.4(SAMHD1):c.1154+12G>A
|
|
|
NM_015474.4(SAMHD1):c.1154+12G>T
|
|
|
NM_015474.4(SAMHD1):c.1154+13A>G
|
rs2148365673
|
|
NM_015474.4(SAMHD1):c.1154+14T>C
|
|
|
NM_015474.4(SAMHD1):c.1154+15T>G
|
|
|
NM_015474.4(SAMHD1):c.1154+4A>T
|
|
|
NM_015474.4(SAMHD1):c.1155-16G>A
|
|
|
NM_015474.4(SAMHD1):c.1155-7T>G
|
rs563734052
|
|
NM_015474.4(SAMHD1):c.1155-8A>C
|
|
|
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile)
|
rs2063439054
|
|
NM_015474.4(SAMHD1):c.1161A>C (p.Thr387=)
|
|
|
NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=)
|
|
|
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
|
|
|
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
|
|
|
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
|
|
|
NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=)
|
|
|
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu)
|
rs1338752164
|
|
NM_015474.4(SAMHD1):c.1179A>G (p.Ala393=)
|
|
|
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
|
|
|
NM_015474.4(SAMHD1):c.1185C>T (p.Asp395=)
|
rs2148365039
|
|
NM_015474.4(SAMHD1):c.1194G>A (p.Glu398=)
|
rs2148365027
|
|
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
|
|
|
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)
|
rs755673943
|
|
NM_015474.4(SAMHD1):c.1200A>G (p.Thr400=)
|
rs773943611
|
|
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser)
|
rs2063438570
|
|
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp)
|
rs2148364990
|
|
NM_015474.4(SAMHD1):c.120C>G (p.Pro40=)
|
|
|
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
|
|
|
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)
|
|
|
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
|
|
|
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr)
|
rs2063734469
|
|
NM_015474.4(SAMHD1):c.1227T>A (p.Ile409=)
|
rs2148364956
|
|
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
|
|
|
NM_015474.4(SAMHD1):c.1230T>C (p.Ser410=)
|
rs2148364950
|
|
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr)
|
rs1444630318
|
|
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)
|
|
|
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)
|
|
|
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)
|
|
|
NM_015474.4(SAMHD1):c.1254C>T (p.Ala418=)
|
rs2148364919
|
|
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
|
|
|
NM_015474.4(SAMHD1):c.1263G>A (p.Lys421=)
|
rs1601124713
|
|
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)
|
|
|
NM_015474.4(SAMHD1):c.1270+10A>G
|
|
|
NM_015474.4(SAMHD1):c.1270+20A>G
|
|
|
NM_015474.4(SAMHD1):c.1270+7A>T
|
rs2148364885
|
|
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
|
|
|
NM_015474.4(SAMHD1):c.1271-13A>G
|
rs2148360651
|
|
NM_015474.4(SAMHD1):c.1271-14C>G
|
|
|
NM_015474.4(SAMHD1):c.1271-14C>T
|
|
|
NM_015474.4(SAMHD1):c.1271-18A>C
|
|
|
NM_015474.4(SAMHD1):c.1271-1G>C
|
|
|
NM_015474.4(SAMHD1):c.1271-2A>C
|
|
|
NM_015474.4(SAMHD1):c.1271-3C>T
|
|
|
NM_015474.4(SAMHD1):c.1271-5G>A
|
rs2063399774
|
|
NM_015474.4(SAMHD1):c.1275C>T (p.Asn425=)
|
rs2148360636
|
|
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter)
|
rs2146160649
|
|
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile)
|
rs2148360629
|
|
NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=)
|
|
|
NM_015474.4(SAMHD1):c.129G>A (p.Lys43=)
|
rs1386913237
|
|
NM_015474.4(SAMHD1):c.12C>A (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.12C>G (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.12C>T (p.Ala4=)
|
rs1356766255
|
|
NM_015474.4(SAMHD1):c.1302T>C (p.Thr434=)
|
rs747247611
|
|
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs)
|
rs2063734360
|
|
NM_015474.4(SAMHD1):c.1312T>C (p.Leu438=)
|
rs2148360614
|
|
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)
|
rs1311797673
|
|
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs)
|
rs2063399418
|
|
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
|
|
|
NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=)
|
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1329G>A (p.Glu443=)
|
|
|
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
|
|
|
NM_015474.4(SAMHD1):c.132A>G (p.Thr44=)
|
|
|
NM_015474.4(SAMHD1):c.132A>T (p.Thr44=)
|
|
|
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs)
|
rs2148360598
|
|
NM_015474.4(SAMHD1):c.1335A>G (p.Leu445=)
|
|
|
NM_015474.4(SAMHD1):c.1344T>C (p.Ile448=)
|
rs746144991
|
|
NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=)
|
|
|
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
|
|
|
NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=)
|
|
|
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr)
|
rs1215408383
|
|
NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=)
|
|
|
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
|
|
|
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu)
|
rs751309562
|
|
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
|
|
|
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
|
|
|
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs)
|
rs1568762986
|
|
NM_015474.4(SAMHD1):c.1410+12G>A
|
|
|
NM_015474.4(SAMHD1):c.1410+12G>T
|
rs2063398513
|
|
NM_015474.4(SAMHD1):c.1410+15A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+15A>G
|
|
|
NM_015474.4(SAMHD1):c.1410+17C>G
|
|
|
NM_015474.4(SAMHD1):c.1410+1G>A
|
|
|
NM_015474.4(SAMHD1):c.1410+4A>C
|
|
|
NM_015474.4(SAMHD1):c.1410+5G>T
|
rs1601119476
|
|
NM_015474.4(SAMHD1):c.1410+6dup
|
rs2148360509
|
|
NM_015474.4(SAMHD1):c.1410+8dup
|
rs2148360504
|
|
NM_015474.4(SAMHD1):c.1410+9T>C
|
|
|
NM_015474.4(SAMHD1):c.1411-11G>T
|
|
|
NM_015474.4(SAMHD1):c.1411-17A>G
|
|
|
NM_015474.4(SAMHD1):c.1411-19G>A
|
|
|
NM_015474.4(SAMHD1):c.1411-19G>T
|
|
|
NM_015474.4(SAMHD1):c.1411-20G>A
|
|
|
NM_015474.4(SAMHD1):c.1411-5T>C
|
|
|
NM_015474.4(SAMHD1):c.1411-7T>C
|
rs2148359780
|
|
NM_015474.4(SAMHD1):c.1416C>T (p.Asp472=)
|
|
|
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer)
|
rs2148359769
|
|
NM_015474.4(SAMHD1):c.141G>A (p.Pro47=)
|
|
|
NM_015474.4(SAMHD1):c.141G>C (p.Pro47=)
|
|
|
NM_015474.4(SAMHD1):c.1422A>G (p.Glu474=)
|
|
|
NM_015474.4(SAMHD1):c.1428T>A (p.Leu476=)
|
|
|
NM_015474.4(SAMHD1):c.1431A>C (p.Pro477=)
|
rs781256664
|
|
NM_015474.4(SAMHD1):c.1431A>G (p.Pro477=)
|
rs781256664
|
|
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter)
|
rs2063392759
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1437G>A (p.Glu479=)
|
|
|
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
|
|
|
NM_015474.4(SAMHD1):c.1443C>T (p.Ala481=)
|
|
|
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs)
|
rs2148359722
|
|
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
|
|
|
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
|
|
|
NM_015474.4(SAMHD1):c.1455C>T (p.Pro485=)
|
rs879334178
|
|
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
|
|
|
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile)
|
rs2148359709
|
|
NM_015474.4(SAMHD1):c.1464G>A (p.Leu488=)
|
|
|
NM_015474.4(SAMHD1):c.1465C>T (p.Leu489=)
|
|
|
NM_015474.4(SAMHD1):c.1467A>G (p.Leu489=)
|
rs2148359699
|
|
NM_015474.4(SAMHD1):c.1470C>T (p.Asp490=)
|
rs889518882
|
|
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
|
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.147G>A (p.Gln49=)
|
|
|
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
|
|
|
NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=)
|
|
|
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro)
|
rs2063392360
|
|
NM_015474.4(SAMHD1):c.1503+11A>G
|
|
|
NM_015474.4(SAMHD1):c.1503+15C>T
|
|
|
NM_015474.4(SAMHD1):c.1503+16A>C
|
|
|
NM_015474.4(SAMHD1):c.1503+1G>T
|
rs515726142
|
|
NM_015474.4(SAMHD1):c.1503+3A>C
|
|
|
NM_015474.4(SAMHD1):c.1503+9T>A
|
|
|
NM_015474.4(SAMHD1):c.1504-11C>T
|
|
|
NM_015474.4(SAMHD1):c.1504-19G>C
|
|
|
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr)
|
rs1990240962
|
|
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
|
|
|
NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=)
|
|
|
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu)
|
rs1363652608
|
|
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs)
|
rs2063734182
|
|
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn)
|
rs999709360
|
|
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)
|
|
|
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)
|
|
|
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)
|
|
|
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)
|
|
|
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)
|
|
|
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
|
|
|
NM_015474.4(SAMHD1):c.1557C>T (p.Ser519=)
|
|
|
NM_015474.4(SAMHD1):c.1563T>C (p.Tyr521=)
|
rs745419546
|
|
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr)
|
rs1046544176
|
|
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
|
|
|
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter)
|
rs1601113209
|
|
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
|
|
|
NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=)
|
|
|
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs)
|
rs2148355967
|
|
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met)
|
rs1354357820
|
|
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)
|
|
|
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile)
|
rs2148355946
|
|
NM_015474.4(SAMHD1):c.15T>C (p.Asp5=)
|
|
|
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr)
|
rs2148355943
|
|
NM_015474.4(SAMHD1):c.1608+10T>A
|
rs1467936950
|
|
NM_015474.4(SAMHD1):c.1608+1G>A
|
rs373731440
|
|
NM_015474.4(SAMHD1):c.1608+20A>G
|
|
|
NM_015474.4(SAMHD1):c.1608+6T>A
|
rs747508625
|
|
NM_015474.4(SAMHD1):c.1608+7A>C
|
rs2148355927
|
|
NM_015474.4(SAMHD1):c.1608+8C>G
|
|
|
NM_015474.4(SAMHD1):c.1608+9T>C
|
rs2148355926
|
|
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=)
|
rs1990238054
|
|
NM_015474.4(SAMHD1):c.1609-11A>T
|
|
|
NM_015474.4(SAMHD1):c.1609-15C>T
|
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.1609-2A>G
|
rs1700306908
|
|
NM_015474.4(SAMHD1):c.1609-2del
|
|
|
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
|
|
|
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
|
|
|
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
|
|
|
NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=)
|
rs1990227839
|
|
NM_015474.4(SAMHD1):c.1629G>A (p.Glu543=)
|
rs1601112678
|
|
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
|
|
|
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys)
|
rs1401777461
|
|
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys)
|
rs2148355589
|
|
NM_015474.4(SAMHD1):c.1645C>T (p.Leu549=)
|
rs2148355580
|
|
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
|
|
|
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp)
|
rs1442543580
|
|
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys)
|
rs2148355563
|
|
NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=)
|
|
|
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
|
|
|
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly)
|
rs769234037
|
|
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu)
|
rs1252711773
|
|
NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=)
|
rs1252711773
|
|
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
|
|
|
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
|
|
|
NM_015474.4(SAMHD1):c.168C>T (p.Arg56=)
|
rs370376351
|
|
NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=)
|
rs1012848236
|
|
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)
|
|
|
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr)
|
rs1187125859
|
|
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala)
|
rs1187125859
|
|
NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=)
|
|
|
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile)
|
rs2148355522
|
|
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys)
|
rs1990225699
|
|
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)
|
|
|
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)
|
|
|
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn)
|
rs1990225210
|
|
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)
|
rs1448113794
|
|
NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)
|
|
|
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala)
|
rs886056647
|
|
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg)
|
rs1255928710
|
|
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
|
|
|
NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=)
|
|
|
NM_015474.4(SAMHD1):c.1746+10C>T
|
rs2148355475
|
|
NM_015474.4(SAMHD1):c.1746+17T>C
|
|
|
NM_015474.4(SAMHD1):c.1746+17_1746+20del
|
|
|
NM_015474.4(SAMHD1):c.1746+18C>T
|
rs2148355462
|
|
NM_015474.4(SAMHD1):c.1746+4G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+4_1746+15del
|
rs1568758975
|
|
NM_015474.4(SAMHD1):c.1746+7G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+8G>A
|
|
|
NM_015474.4(SAMHD1):c.1746+9C>A
|
|
|
NM_015474.4(SAMHD1):c.174C>T (p.Gly58=)
|
rs2146160518
|
|
NM_015474.4(SAMHD1):c.180A>G (p.Glu60=)
|
|
|
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter)
|
rs747918559
|
|
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser)
|
rs2146160495
|
|
NM_015474.4(SAMHD1):c.186G>C (p.Pro62=)
|
rs2146160488
|
|
NM_015474.4(SAMHD1):c.18C>A (p.Ser6=)
|
|
|
NM_015474.4(SAMHD1):c.193C>T (p.Leu65=)
|
|
|
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg)
|
rs2146160474
|
|
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter)
|
rs2146160463
|
|
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser)
|
rs2063733948
|
|
NM_015474.4(SAMHD1):c.208+12G>A
|
rs200586933
|
|
NM_015474.4(SAMHD1):c.208+12G>C
|
rs200586933
|
|
NM_015474.4(SAMHD1):c.208+13G>A
|
|
|
NM_015474.4(SAMHD1):c.208+4G>A
|
rs1273248542
|
|
NM_015474.4(SAMHD1):c.209-10T>C
|
rs2146151537
|
|
NM_015474.4(SAMHD1):c.209-15dup
|
rs1600394552
|
|
NM_015474.4(SAMHD1):c.209-17T>C
|
|
|
NM_015474.4(SAMHD1):c.209-18G>A
|
|
|
NM_015474.4(SAMHD1):c.209-7T>C
|
rs2146151531
|
|
NM_015474.4(SAMHD1):c.209-9C>G
|
|
|
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
|
|
|
NM_015474.4(SAMHD1):c.21G>A (p.Glu7=)
|
rs1479750345
|
|
NM_015474.4(SAMHD1):c.225C>A (p.Gly75=)
|
|
|
NM_015474.4(SAMHD1):c.225C>T (p.Gly75=)
|
rs527385232
|
|
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr)
|
rs141599277
|
|
NM_015474.4(SAMHD1):c.228A>G (p.Ala76=)
|
rs2063689294
|
|
NM_015474.4(SAMHD1):c.229T>C (p.Leu77=)
|
rs2146151462
|
|
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg)
|
rs149797357
|
|
NM_015474.4(SAMHD1):c.243T>G (p.Leu81=)
|
rs1316259613
|
|
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
|
|
|
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp)
|
rs2063689102
|
|
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)
|
|
|
NM_015474.4(SAMHD1):c.267T>G (p.Leu89=)
|
rs2146151397
|
|
NM_015474.4(SAMHD1):c.273A>G (p.Val91=)
|
|
|
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)
|
|
|
NM_015474.4(SAMHD1):c.275+7A>G
|
|
|
NM_015474.4(SAMHD1):c.275+9G>A
|
rs763934219
|
|
NM_015474.4(SAMHD1):c.275+9G>C
|
rs763934219
|
|
NM_015474.4(SAMHD1):c.276-11T>G
|
|
|
NM_015474.4(SAMHD1):c.276-12T>C
|
|
|
NM_015474.4(SAMHD1):c.276-13A>G
|
|
|
NM_015474.4(SAMHD1):c.276-15C>G
|
|
|
NM_015474.4(SAMHD1):c.276-16C>T
|
|
|
NM_015474.4(SAMHD1):c.276-20T>C
|
rs2063641728
|
|
NM_015474.4(SAMHD1):c.276-8A>G
|
|
|
NM_015474.4(SAMHD1):c.276-9T>C
|
|
|
NM_015474.4(SAMHD1):c.279C>T (p.Ser93=)
|
|
|
NM_015474.4(SAMHD1):c.282G>A (p.Leu94=)
|
|
|
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala)
|
rs1277922979
|
|
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
|
|
|
NM_015474.4(SAMHD1):c.285G>A (p.Gly95=)
|
rs2146144602
|
|
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
|
|
|
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
|
|
|
NM_015474.4(SAMHD1):c.291G>A (p.Arg97=)
|
rs1308693389
|
|
NM_015474.4(SAMHD1):c.294G>A (p.Lys98=)
|
rs535408526
|
|
NM_015474.4(SAMHD1):c.297G>A (p.Lys99=)
|
|
|
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys)
|
rs923362391
|
|
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
|
|
|
NM_015474.4(SAMHD1):c.316C>A (p.Arg106=)
|
rs779028596
|
|
NM_015474.4(SAMHD1):c.328del (p.Ile110fs)
|
rs759706198
|
|
NM_015474.4(SAMHD1):c.330C>T (p.Ile110=)
|
|
|
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
|
|
|
NM_015474.4(SAMHD1):c.336T>C (p.Val112=)
|
|
|
NM_015474.4(SAMHD1):c.339T>C (p.Asp113=)
|
rs2146144529
|
|
NM_015474.4(SAMHD1):c.33G>A (p.Lys11=)
|
|
|
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
|
|
|
NM_015474.4(SAMHD1):c.348+13G>A
|
|
|
NM_015474.4(SAMHD1):c.348+14A>C
|
rs1600389905
|
|
NM_015474.4(SAMHD1):c.348+17T>G
|
rs2146144489
|
|
NM_015474.4(SAMHD1):c.348+19G>A
|
rs2063640331
|
|
NM_015474.4(SAMHD1):c.348+19_348+21del
|
rs1178558707
|
|
NM_015474.4(SAMHD1):c.348+7G>A
|
rs568011642
|
|
NM_015474.4(SAMHD1):c.348+7G>C
|
rs568011642
|
|
NM_015474.4(SAMHD1):c.349-11T>C
|
|
|
NM_015474.4(SAMHD1):c.349-11_349-10del
|
|
|
NM_015474.4(SAMHD1):c.349-14A>T
|
|
|
NM_015474.4(SAMHD1):c.349-16A>T
|
|
|
NM_015474.4(SAMHD1):c.349-18_349-15del
|
|
|
NM_015474.4(SAMHD1):c.349-1G>A
|
rs1251155562
|
|
NM_015474.4(SAMHD1):c.349-2A>T
|
rs2146137671
|
|
NM_015474.4(SAMHD1):c.349-5T>C
|
rs2063595719
|
|
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
|
|
|
NM_015474.4(SAMHD1):c.351A>G (p.Val117=)
|
|
|
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del)
|
rs515726144
|
|
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His)
|
rs2146161012
|
|
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val)
|
rs757367080
|
|
NM_015474.4(SAMHD1):c.369T>C (p.His123=)
|
|
|
NM_015474.4(SAMHD1):c.381G>A (p.Glu127=)
|
|
|
NM_015474.4(SAMHD1):c.384C>G (p.Leu128=)
|
|
|
NM_015474.4(SAMHD1):c.393C>T (p.Leu131=)
|
rs2146137613
|
|
NM_015474.4(SAMHD1):c.396C>G (p.Leu132=)
|
|
|
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)
|
|
|
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)
|
rs752442185
|
|
NM_015474.4(SAMHD1):c.402A>C (p.Arg134=)
|
|
|
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
|
|
|
NM_015474.4(SAMHD1):c.411T>C (p.Asp137=)
|
rs2146137550
|
|
NM_015474.4(SAMHD1):c.414A>G (p.Thr138=)
|
|
|
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
|
|
|
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
|
|
|
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)
|
rs515726145
|
|
NM_015474.4(SAMHD1):c.438C>T (p.Tyr146=)
|
rs2146137471
|
|
NM_015474.4(SAMHD1):c.441C>A (p.Ile147=)
|
rs201880612
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.447G>A (p.Gln149=)
|
|
|
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)
|
rs775844501
|
|
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
|
|
|
NM_015474.4(SAMHD1):c.459T>C (p.Gly153=)
|
rs2146137431
|
|
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs)
|
rs2063594580
|
|
NM_015474.4(SAMHD1):c.465T>C (p.Tyr155=)
|
|
|
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
|
|
|
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr)
|
rs200703816
|
|
NM_015474.4(SAMHD1):c.477A>G (p.Gly159=)
|
rs2146137401
|
|
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
|
|
|
NM_015474.4(SAMHD1):c.480T>G (p.Ala160=)
|
|
|
NM_015474.4(SAMHD1):c.48T>C (p.Asp16=)
|
rs1330443890
|
|
NM_015474.4(SAMHD1):c.490C>A (p.Arg164=)
|
rs267607027
|
|
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
|
|
|
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser)
|
rs765879627
|
|
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs)
|
rs1601144527
|
|
NM_015474.4(SAMHD1):c.498G>A (p.Glu166=)
|
|
|
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
|
|
|
NM_015474.4(SAMHD1):c.501T>C (p.His167=)
|
|
|
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile)
|
rs2146137354
|
|
NM_015474.4(SAMHD1):c.507A>G (p.Leu169=)
|
rs2146137349
|
|
NM_015474.4(SAMHD1):c.509+10G>A
|
rs2146137336
|
|
NM_015474.4(SAMHD1):c.509+11A>G
|
|
|
NM_015474.4(SAMHD1):c.509+14G>A
|
|
|
NM_015474.4(SAMHD1):c.509+17G>C
|
|
|
NM_015474.4(SAMHD1):c.509+8G>A
|
rs2146137337
|
|
NM_015474.4(SAMHD1):c.509+9G>A
|
|
|
NM_015474.4(SAMHD1):c.510-10T>G
|
|
|
NM_015474.4(SAMHD1):c.510-13T>G
|
rs764856158
|
|
NM_015474.4(SAMHD1):c.510-14T>C
|
|
|
NM_015474.4(SAMHD1):c.510-17G>T
|
rs1555835836
|
|
NM_015474.4(SAMHD1):c.510-18del
|
rs772577201
|
|
NM_015474.4(SAMHD1):c.510-19_510-18del
|
|
|
NM_015474.4(SAMHD1):c.510-20T>G
|
rs2146132172
|
|
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu)
|
rs2063564236
|
|
NM_015474.4(SAMHD1):c.513G>A (p.Val171=)
|
|
|
NM_015474.4(SAMHD1):c.513G>C (p.Val171=)
|
rs903077482
|
|
NM_015474.4(SAMHD1):c.516G>A (p.Gly172=)
|
rs539358895
|
|
NM_015474.4(SAMHD1):c.516G>T (p.Gly172=)
|
rs539358895
|
|
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln)
|
rs2146132117
|
|
NM_015474.4(SAMHD1):c.525A>C (p.Ala175=)
|
rs1438006542
|
|
NM_015474.4(SAMHD1):c.532C>T (p.Leu178=)
|
|
|
NM_015474.4(SAMHD1):c.534A>G (p.Leu178=)
|
rs771148482
|
|
NM_015474.4(SAMHD1):c.540C>T (p.His180=)
|
rs2146132084
|
|
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=)
|
rs769968442
|
|
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
|
|
|
NM_015474.4(SAMHD1):c.555A>G (p.Lys185=)
|
|
|
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
|
|
|
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr)
|
rs2146132053
|
|
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser)
|
rs2146160927
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NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val)
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rs2146132029
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NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs)
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rs1328663348
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NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg)
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rs1308458054
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NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
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NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu)
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rs1303667371
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NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
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rs1303667371
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NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
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NM_015474.4(SAMHD1):c.57G>C (p.Pro19=)
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NM_015474.4(SAMHD1):c.588T>A (p.Val196=)
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rs2146131970
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NM_015474.4(SAMHD1):c.588T>C (p.Val196=)
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NM_015474.4(SAMHD1):c.58A>C (p.Arg20=)
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NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
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NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)
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rs758547160
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NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT
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rs2146131738
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NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val)
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rs1568776699
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NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
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NM_015474.4(SAMHD1):c.625+10A>T
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NM_015474.4(SAMHD1):c.625+11C>T
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NM_015474.4(SAMHD1):c.625+12A>G
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NM_015474.4(SAMHD1):c.625+17G>A
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NM_015474.4(SAMHD1):c.625+17G>C
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NM_015474.4(SAMHD1):c.625+19C>T
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NM_015474.4(SAMHD1):c.625+1G>A
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rs1601141002
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NM_015474.4(SAMHD1):c.625+8G>A
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rs537246518
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NM_015474.4(SAMHD1):c.626-15G>A
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NM_015474.4(SAMHD1):c.626-1G>C
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rs2146127849
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NM_015474.4(SAMHD1):c.626-64_626-63del
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rs529639777
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NM_015474.4(SAMHD1):c.626-8T>C
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rs2146127859
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NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
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NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile)
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rs760912458
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NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
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NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs)
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rs2146127824
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NM_015474.4(SAMHD1):c.63C>A (p.Thr21=)
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NM_015474.4(SAMHD1):c.63C>G (p.Thr21=)
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NM_015474.4(SAMHD1):c.644A>C (p.His215Pro)
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rs772029258
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NM_015474.4(SAMHD1):c.645C>T (p.His215=)
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rs2146127828
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NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser)
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rs2146127793
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NM_015474.4(SAMHD1):c.657A>G (p.Gly219=)
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rs2146127775
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NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
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NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser)
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rs1235181942
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NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu)
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rs1601138159
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NM_015474.4(SAMHD1):c.669A>G (p.Pro223=)
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NM_015474.4(SAMHD1):c.66C>G (p.Pro22=)
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rs2146160870
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NM_015474.4(SAMHD1):c.66del (p.Ser23fs)
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rs1442728513
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NM_015474.4(SAMHD1):c.672T>C (p.Leu224=)
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rs2146127757
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NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly)
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rs778647626
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NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys)
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rs778647626
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NM_015474.4(SAMHD1):c.678C>T (p.Arg226=)
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rs2146127744
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NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr)
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rs886056649
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NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu)
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rs753391551
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NM_015474.4(SAMHD1):c.681G>T (p.Pro227=)
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rs144587056
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NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
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NM_015474.4(SAMHD1):c.687G>T (p.Val229=)
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NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
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NM_015474.4(SAMHD1):c.690A>G (p.Lys230=)
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rs2063541744
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NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter)
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rs2063541685
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NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
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NM_015474.4(SAMHD1):c.696+10C>A
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NM_015474.4(SAMHD1):c.696+17T>C
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NM_015474.4(SAMHD1):c.696+20A>G
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NM_015474.4(SAMHD1):c.696+2T>C
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NM_015474.4(SAMHD1):c.696+5G>A
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rs1468637736
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NM_015474.4(SAMHD1):c.696+7A>G
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NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
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NM_015474.4(SAMHD1):c.697-1G>T
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rs2146119643
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NM_015474.4(SAMHD1):c.697-20A>G
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NM_015474.4(SAMHD1):c.697-2A>G
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NM_015474.4(SAMHD1):c.697-5C>T
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rs780562967
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NM_015474.4(SAMHD1):c.699T>C (p.His233=)
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rs758776995
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NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter)
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rs1219206348
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NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter)
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rs750807433
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NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp)
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rs2146160848
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NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
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NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp)
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rs1239766590
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NM_015474.4(SAMHD1):c.741T>C (p.Ser247=)
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NM_015474.4(SAMHD1):c.744T>C (p.Asn248=)
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rs2146119590
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NM_015474.4(SAMHD1):c.747A>C (p.Gly249=)
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rs2146119586
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NM_015474.4(SAMHD1):c.753G>A (p.Lys251=)
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rs1331067278
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NM_015474.4(SAMHD1):c.756T>C (p.Pro252=)
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rs1601132420
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NM_015474.4(SAMHD1):c.75C>G (p.Thr25=)
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NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)
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NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)
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rs121434521
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NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
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NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
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NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser)
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rs2146160814
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NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=)
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NM_015474.4(SAMHD1):c.774T>C (p.Gly258=)
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NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
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NM_015474.4(SAMHD1):c.780C>A (p.Ile260=)
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NM_015474.4(SAMHD1):c.78T>C (p.Pro26=)
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NM_015474.4(SAMHD1):c.792T>C (p.Asp264=)
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rs774333580
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NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
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NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
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NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
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NM_015474.4(SAMHD1):c.810A>G (p.Glu270=)
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rs2146119450
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NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
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NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
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NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
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NM_015474.4(SAMHD1):c.819A>G (p.Val273=)
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NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)
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NM_015474.4(SAMHD1):c.81C>G (p.Ser27=)
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NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu)
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rs2063492690
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NM_015474.4(SAMHD1):c.822A>G (p.Gly274=)
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NM_015474.4(SAMHD1):c.828T>C (p.Leu276=)
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rs2146119427
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NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
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NM_015474.4(SAMHD1):c.846T>C (p.Asp282=)
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NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala)
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rs2146119399
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NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
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NM_015474.4(SAMHD1):c.849A>C (p.Ser283=)
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rs1297061868
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NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)
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NM_015474.4(SAMHD1):c.84A>T (p.Ala28=)
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NM_015474.4(SAMHD1):c.852+11G>A
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NM_015474.4(SAMHD1):c.852+14C>T
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NM_015474.4(SAMHD1):c.852+15A>C
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NM_015474.4(SAMHD1):c.852+16G>A
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NM_015474.4(SAMHD1):c.852+17C>T
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NM_015474.4(SAMHD1):c.852+1G>A
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NM_015474.4(SAMHD1):c.852+1G>T
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rs780504624
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NM_015474.4(SAMHD1):c.852G>A (p.Leu284=)
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rs2146119382
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NM_015474.4(SAMHD1):c.853-1G>C
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NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
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NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter)
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rs752962934
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NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=)
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rs752962934
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NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
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NM_015474.4(SAMHD1):c.867G>T (p.Gly289=)
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rs1601130409
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NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
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NM_015474.4(SAMHD1):c.879C>T (p.Asn293=)
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NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp)
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rs1451769476
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NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly)
|
rs2146117130
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NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
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NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
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NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val)
|
rs774197667
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NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
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NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
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NM_015474.4(SAMHD1):c.903A>G (p.Val301=)
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NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
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NM_015474.4(SAMHD1):c.924T>C (p.Ile308=)
|
rs1422794120
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NM_015474.4(SAMHD1):c.933C>T (p.Asp311=)
|
rs2063480136
|
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NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter)
|
rs2063480012
|
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NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
|
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NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
|
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NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
|
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NM_015474.4(SAMHD1):c.953+12A>G
|
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NM_015474.4(SAMHD1):c.953+19T>G
|
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NM_015474.4(SAMHD1):c.953+1G>A
|
rs2146117027
|
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NM_015474.4(SAMHD1):c.953+7A>C
|
rs1472597876
|
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NM_015474.4(SAMHD1):c.953+7A>G
|
rs1472597876
|
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NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
|
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NM_015474.4(SAMHD1):c.954-17T>G
|
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NM_015474.4(SAMHD1):c.954-24CT[2]
|
rs780918592
|
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NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
|
|
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NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
|
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NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
|
|
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NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys)
|
rs770005027
|
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NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
|
|
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NM_015474.4(SAMHD1):c.999C>A (p.Arg333=)
|
rs2146116905
|
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NM_015474.4(SAMHD1):c.99C>A (p.Ser33=)
|
rs1014839218
|
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NM_015474.4(SAMHD1):c.99C>T (p.Ser33=)
|
rs1014839218
|
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Single allele
|
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