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.1368T>G (p.Tyr456Ter)
|
rs769561543
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
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.316C>T (p.Arg106Ter)
|
rs779028596
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
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.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter)
|
rs1300333132
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
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
|
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
|
|
|
NC_000020.10:g.(?_35545115)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35555575)_(35559288_?)del
|
|
|
NC_000020.10:g.(?_35563412)_(35563612_?)del
|
|
|
NC_000020.10:g.(?_35563422)_(35563602_?)del
|
|
|
NC_000020.10:g.(?_35575121)_(35580046_?)del
|
|
|
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.36935169_36935190dup
|
|
|
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs)
|
rs752942007
|
|
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer)
|
rs2063478568
|
|
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs)
|
rs2146116814
|
|
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
|
|
|
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
|
|
|
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs)
|
rs2063446897
|
|
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter)
|
rs2148365710
|
|
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
|
|
|
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
|
|
|
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
|
|
|
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
|
|
|
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
|
|
|
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
|
|
|
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter)
|
rs2146160649
|
|
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs)
|
rs2063399418
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs)
|
rs2148360598
|
|
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
|
|
|
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs)
|
rs1568762986
|
|
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer)
|
rs2148359769
|
|
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.1444_1453del (p.Ser482fs)
|
rs2148359722
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
|
|
|
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs)
|
rs2063734182
|
|
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
|
|
|
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
|
|
|
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter)
|
rs1601113209
|
|
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs)
|
rs2148355967
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
|
|
|
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter)
|
rs747918559
|
|
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter)
|
rs2146160463
|
|
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
|
|
|
NM_015474.4(SAMHD1):c.328del (p.Ile110fs)
|
rs759706198
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs)
|
rs2063594580
|
|
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
|
|
|
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
|
|
|
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs)
|
rs1601144527
|
|
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
|
|
|
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs)
|
rs1328663348
|
|
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
|
|
|
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
|
|
|
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT
|
rs2146131738
|
|
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs)
|
rs2146127824
|
|
NM_015474.4(SAMHD1):c.66del (p.Ser23fs)
|
rs1442728513
|
|
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter)
|
rs2063541685
|
|
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.760A>G (p.Met254Val)
|
rs121434521
|
|
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
|
|
|
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
|
|
|
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
|
|
|
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
|
|
|
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
|
|
|
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter)
|
rs752962934
|
|
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
|
|
|
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
|
|
|
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
|
|
|
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter)
|
rs2063480012
|
|
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
|
|
|
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
|
|
|
Single allele
|
|
|