ClinVar Miner

List of variants in gene SAMHD1 studied for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 771
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HGVS dbSNP gnomAD frequency
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
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val) rs2146132029
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs) rs1328663348
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg) rs1308458054
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu) rs1303667371
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
NM_015474.4(SAMHD1):c.57G>C (p.Pro19=)
NM_015474.4(SAMHD1):c.588T>A (p.Val196=) rs2146131970
NM_015474.4(SAMHD1):c.588T>C (p.Val196=)
NM_015474.4(SAMHD1):c.58A>C (p.Arg20=)
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) rs758547160
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT rs2146131738
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val) rs1568776699
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
NM_015474.4(SAMHD1):c.625+10A>T
NM_015474.4(SAMHD1):c.625+11C>T
NM_015474.4(SAMHD1):c.625+12A>G
NM_015474.4(SAMHD1):c.625+17G>A
NM_015474.4(SAMHD1):c.625+17G>C
NM_015474.4(SAMHD1):c.625+19C>T
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015474.4(SAMHD1):c.625+8G>A rs537246518
NM_015474.4(SAMHD1):c.626-15G>A
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.626-64_626-63del rs529639777
NM_015474.4(SAMHD1):c.626-8T>C rs2146127859
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile) rs760912458
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs) rs2146127824
NM_015474.4(SAMHD1):c.63C>A (p.Thr21=)
NM_015474.4(SAMHD1):c.63C>G (p.Thr21=)
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro) rs772029258
NM_015474.4(SAMHD1):c.645C>T (p.His215=) rs2146127828
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser) rs2146127793
NM_015474.4(SAMHD1):c.657A>G (p.Gly219=) rs2146127775
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser) rs1235181942
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu) rs1601138159
NM_015474.4(SAMHD1):c.669A>G (p.Pro223=)
NM_015474.4(SAMHD1):c.66C>G (p.Pro22=) rs2146160870
NM_015474.4(SAMHD1):c.66del (p.Ser23fs) rs1442728513
NM_015474.4(SAMHD1):c.672T>C (p.Leu224=) rs2146127757
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys) rs778647626
NM_015474.4(SAMHD1):c.678C>T (p.Arg226=) rs2146127744
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) rs753391551
NM_015474.4(SAMHD1):c.681G>T (p.Pro227=) rs144587056
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
NM_015474.4(SAMHD1):c.687G>T (p.Val229=)
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
NM_015474.4(SAMHD1):c.690A>G (p.Lys230=) rs2063541744
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter) rs2063541685
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
NM_015474.4(SAMHD1):c.696+10C>A
NM_015474.4(SAMHD1):c.696+17T>C
NM_015474.4(SAMHD1):c.696+20A>G
NM_015474.4(SAMHD1):c.696+2T>C
NM_015474.4(SAMHD1):c.696+5G>A rs1468637736
NM_015474.4(SAMHD1):c.696+7A>G
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
NM_015474.4(SAMHD1):c.697-1G>T rs2146119643
NM_015474.4(SAMHD1):c.697-20A>G
NM_015474.4(SAMHD1):c.697-2A>G
NM_015474.4(SAMHD1):c.697-5C>T rs780562967
NM_015474.4(SAMHD1):c.699T>C (p.His233=) rs758776995
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter) rs1219206348
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter) rs750807433
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp) rs2146160848
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp) rs1239766590
NM_015474.4(SAMHD1):c.741T>C (p.Ser247=)
NM_015474.4(SAMHD1):c.744T>C (p.Asn248=) rs2146119590
NM_015474.4(SAMHD1):c.747A>C (p.Gly249=) rs2146119586
NM_015474.4(SAMHD1):c.753G>A (p.Lys251=) rs1331067278
NM_015474.4(SAMHD1):c.756T>C (p.Pro252=) rs1601132420
NM_015474.4(SAMHD1):c.75C>G (p.Thr25=)
NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser) rs2146160814
NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=)
NM_015474.4(SAMHD1):c.774T>C (p.Gly258=)
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
NM_015474.4(SAMHD1):c.780C>A (p.Ile260=)
NM_015474.4(SAMHD1):c.78T>C (p.Pro26=)
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=) rs774333580
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
NM_015474.4(SAMHD1):c.810A>G (p.Glu270=) rs2146119450
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
NM_015474.4(SAMHD1):c.819A>G (p.Val273=)
NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)
NM_015474.4(SAMHD1):c.81C>G (p.Ser27=)
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu) rs2063492690
NM_015474.4(SAMHD1):c.822A>G (p.Gly274=)
NM_015474.4(SAMHD1):c.828T>C (p.Leu276=) rs2146119427
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
NM_015474.4(SAMHD1):c.846T>C (p.Asp282=)
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala) rs2146119399
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
NM_015474.4(SAMHD1):c.849A>C (p.Ser283=) rs1297061868
NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)
NM_015474.4(SAMHD1):c.84A>T (p.Ala28=)
NM_015474.4(SAMHD1):c.852+11G>A
NM_015474.4(SAMHD1):c.852+14C>T
NM_015474.4(SAMHD1):c.852+15A>C
NM_015474.4(SAMHD1):c.852+16G>A
NM_015474.4(SAMHD1):c.852+17C>T
NM_015474.4(SAMHD1):c.852+1G>A
NM_015474.4(SAMHD1):c.852+1G>T rs780504624
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=) rs2146119382
NM_015474.4(SAMHD1):c.853-1G>C
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter) rs752962934
NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=) rs752962934
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
NM_015474.4(SAMHD1):c.867G>T (p.Gly289=) rs1601130409
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_015474.4(SAMHD1):c.879C>T (p.Asn293=)
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp) rs1451769476
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly) rs2146117130
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val) rs774197667
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
NM_015474.4(SAMHD1):c.903A>G (p.Val301=)
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
NM_015474.4(SAMHD1):c.924T>C (p.Ile308=) rs1422794120
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter) rs2063480012
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
NM_015474.4(SAMHD1):c.953+12A>G
NM_015474.4(SAMHD1):c.953+19T>G
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_015474.4(SAMHD1):c.953+7A>C rs1472597876
NM_015474.4(SAMHD1):c.953+7A>G rs1472597876
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
NM_015474.4(SAMHD1):c.954-17T>G
NM_015474.4(SAMHD1):c.954-24CT[2] rs780918592
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)
NM_015474.4(SAMHD1):c.999C>A (p.Arg333=) rs2146116905
NM_015474.4(SAMHD1):c.99C>A (p.Ser33=) rs1014839218
NM_015474.4(SAMHD1):c.99C>T (p.Ser33=) rs1014839218
Single allele

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