|
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
|
GRCh37/hg19 5q35.3(chr5:176693044-176709760)x1
|
|
|
|
GRCh38/hg38 5q35.3(chr5:177228604-177246556)x1
|
|
|
|
NC_000005.10:(?_177131798)_(177300213_)?)del
|
|
|
|
NC_000005.10:g.(?_177235801)_(177239885_?)del
|
|
|
|
NC_000005.10:g.(?_177280545)_(177283948_?)del
|
|
|
|
NC_000005.10:g.(?_177288799)_(177288945_?)del
|
|
|
|
NC_000005.9:g.(?_176638041)_(176722460_?)del
|
|
|
|
NC_000005.9:g.(?_176720813)_(176722460_?)del
|
|
|
|
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
|
|
|
|
NM_022455.5(NSD1):c.1014del (p.Cys339fs)
|
|
|
|
NM_022455.5(NSD1):c.1034_1037dup (p.Leu346fs)
|
rs2149821358
|
|
|
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs)
|
rs1581254366
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
|
NM_022455.5(NSD1):c.1077del (p.Arg359fs)
|
rs587784068
|
|
|
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)
|
rs2149836269
|
|
|
NM_022455.5(NSD1):c.1212_1213del (p.Lys405fs)
|
rs886041217
|
|
|
NM_022455.5(NSD1):c.1216_1219del (p.Glu406fs)
|
rs2149836382
|
|
|
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
|
rs1763175962
|
|
|
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)
|
rs587784071
|
|
|
NM_022455.5(NSD1):c.1264dup (p.Glu422fs)
|
rs797045804
|
|
|
NM_022455.5(NSD1):c.1288C>T (p.Gln430Ter)
|
rs367809750
|
|
|
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
|
|
|
|
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter)
|
rs121908067
|
|
|
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)
|
rs1270264665
|
|
|
NM_022455.5(NSD1):c.1327_1328del (p.Ile443fs)
|
rs1581314832
|
|
|
NM_022455.5(NSD1):c.1397C>G (p.Ser466Ter)
|
rs1057520581
|
|
|
NM_022455.5(NSD1):c.1456del (p.Ser486fs)
|
rs587784073
|
|
|
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)
|
rs1581315609
|
|
|
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs)
|
rs1562205351
|
|
|
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter)
|
rs1131692328
|
|
|
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs)
|
rs1763204241
|
|
|
NM_022455.5(NSD1):c.1654del (p.Ser552fs)
|
rs1060501497
|
|
|
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter)
|
rs1554189042
|
|
|
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)
|
rs1299932363
|
|
|
NM_022455.5(NSD1):c.1739_1740del (p.Lys580fs)
|
rs1064796222
|
|
|
NM_022455.5(NSD1):c.1743del (p.Glu581fs)
|
rs794729232
|
|
|
NM_022455.5(NSD1):c.1760del (p.Gly587fs)
|
rs1581316964
|
|
|
NM_022455.5(NSD1):c.1802dup (p.Cys602fs)
|
rs797045805
|
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
|
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter)
|
rs1554189131
|
|
|
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)
|
rs1763225156
|
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
|
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer)
|
rs1562206791
|
|
|
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter)
|
rs1286331975
|
|
|
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
|
rs1481136060
|
|
|
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
|
|
|
|
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs)
|
rs587784078
|
|
|
NM_022455.5(NSD1):c.2047_2048del (p.Lys683fs)
|
rs587784079
|
|
|
NM_022455.5(NSD1):c.2048del (p.Lys683fs)
|
rs587784079
|
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
|
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs)
|
rs2149844461
|
|
|
NM_022455.5(NSD1):c.2054dup (p.Tyr686fs)
|
rs1554189269
|
|
|
NM_022455.5(NSD1):c.2064del (p.Arg688fs)
|
rs587784081
|
|
|
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter)
|
rs1562097849
|
|
|
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
|
rs1763249718
|
|
|
NM_022455.5(NSD1):c.2108del (p.Leu703fs)
|
rs886041550
|
|
|
NM_022455.5(NSD1):c.2124_2127del (p.His708fs)
|
rs587784082
|
|
|
NM_022455.5(NSD1):c.2137dup (p.Met713fs)
|
rs1581318949
|
|
|
NM_022455.5(NSD1):c.2152_2153del (p.Ser718fs)
|
rs1064796161
|
|
|
NM_022455.5(NSD1):c.2163_2169del (p.Gly722fs)
|
rs886041832
|
|
|
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs)
|
rs2149844773
|
|
|
NM_022455.5(NSD1):c.2167dup (p.Thr723fs)
|
rs797045807
|
|
|
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs)
|
rs797045808
|
|
|
NM_022455.5(NSD1):c.2209dup (p.Thr737fs)
|
rs1763260541
|
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
|
NM_022455.5(NSD1):c.2276C>A (p.Ser759Ter)
|
rs587784084
|
|
|
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)
|
rs587784084
|
|
|
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer)
|
rs1581319867
|
|
|
NM_022455.5(NSD1):c.2295del (p.Ser766fs)
|
rs587784085
|
|
|
NM_022455.5(NSD1):c.2314del (p.Ala772fs)
|
rs1554189482
|
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
|
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)
|
|
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
|
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)
|
rs201327209
|
|
|
NM_022455.5(NSD1):c.2349del (p.Lys783fs)
|
rs398124374
|
|
|
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
|
rs1057520339
|
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
|
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
|
|
|
|
NM_022455.5(NSD1):c.2493dup (p.Lys832fs)
|
|
|
|
NM_022455.5(NSD1):c.2494A>T (p.Lys832Ter)
|
rs1562209222
|
|
|
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
|
|
|
|
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs)
|
rs1763290288
|
|
|
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
|
|
|
|
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs)
|
rs2149845831
|
|
|
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer)
|
rs1581321541
|
|
|
NM_022455.5(NSD1):c.2615T>G (p.Leu872Ter)
|
rs1581321573
|
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
|
NM_022455.5(NSD1):c.2636_2637del (p.Ser879fs)
|
rs1554189720
|
|
|
NM_022455.5(NSD1):c.2639del (p.Gly880fs)
|
rs587784087
|
|
|
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
|
rs2149845949
|
|
|
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter)
|
rs587784088
|
|
|
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
|
rs1131691754
|
|
|
NM_022455.5(NSD1):c.2674del (p.Ser892fs)
|
rs2149846018
|
|
|
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)
|
rs1064794051
|
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
|
NM_022455.5(NSD1):c.2827del (p.Asp943fs)
|
rs587784089
|
|
|
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)
|
rs797045809
|
|
|
NM_022455.5(NSD1):c.2892_2914dup (p.Thr972fs)
|
rs1554189871
|
|
|
NM_022455.5(NSD1):c.2915del (p.Thr972fs)
|
rs1554189879
|
|
|
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer)
|
rs2149846650
|
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
|
NM_022455.5(NSD1):c.2956del (p.Ala986fs)
|
rs587784093
|
|
|
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)
|
rs2149846817
|
|
|
NM_022455.5(NSD1):c.2996_2997insTTAA (p.Leu999_Ser1000insTer)
|
rs1064793616
|
|
|
NM_022455.5(NSD1):c.2998del (p.Ser1000fs)
|
rs1581323431
|
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
|
NM_022455.5(NSD1):c.3017del (p.Pro1006fs)
|
rs2149846924
|
|
|
NM_022455.5(NSD1):c.3031del (p.Ser1011fs)
|
rs2149846959
|
|
|
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)
|
rs1006906224
|
|
|
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)
|
rs587784094
|
|
|
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
|
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
|
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)
|
rs2149847258
|
|
|
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs)
|
rs797045810
|
|
|
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs)
|
rs797045810
|
|
|
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)
|
rs1763344725
|
|
|
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)
|
rs587784097
|
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
|
NM_022455.5(NSD1):c.3230C>G (p.Ser1077Ter)
|
rs1064793843
|
|
|
NM_022455.5(NSD1):c.3231_3237delinsTC (p.Leu1078fs)
|
rs2149847729
|
|
|
NM_022455.5(NSD1):c.3254del (p.Pro1085fs)
|
rs2149847798
|
|
|
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)
|
rs797045811
|
|
|
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)
|
rs1763353656
|
|
|
NM_022455.5(NSD1):c.3274C>T (p.Gln1092Ter)
|
rs1562212423
|
|
|
NM_022455.5(NSD1):c.3290T>A (p.Leu1097Ter)
|
rs1562212484
|
|
|
NM_022455.5(NSD1):c.3293del (p.Thr1098fs)
|
rs587784099
|
|
|
NM_022455.5(NSD1):c.3295del (p.Ser1099fs)
|
rs587784100
|
|
|
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)
|
rs797045812
|
|
|
NM_022455.5(NSD1):c.3364dup (p.Ile1122fs)
|
rs2149848202
|
|
|
NM_022455.5(NSD1):c.3382dup (p.Ser1128fs)
|
rs886043780
|
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
|
NM_022455.5(NSD1):c.3383del (p.Ser1128fs)
|
|
|
|
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
|
rs1554190214
|
|
|
NM_022455.5(NSD1):c.3387_3389delinsGG (p.Phe1129fs)
|
rs886039717
|
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
|
NM_022455.5(NSD1):c.3423_3424insCC (p.Asn1142fs)
|
rs1064796081
|
|
|
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs)
|
rs1554190262
|
|
|
NM_022455.5(NSD1):c.3457C>T (p.Gln1153Ter)
|
rs1554190269
|
|
|
NM_022455.5(NSD1):c.3481C>T (p.Gln1161Ter)
|
rs1554190292
|
|
|
NM_022455.5(NSD1):c.3496del (p.Arg1166fs)
|
rs1763373604
|
|
|
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter)
|
rs1562213291
|
|
|
NM_022455.5(NSD1):c.3536del (p.Glu1179fs)
|
rs1562213381
|
|
|
NM_022455.5(NSD1):c.3541_3544del (p.Glu1181fs)
|
|
|
|
NM_022455.5(NSD1):c.3548_3549del (p.Asn1182_Ser1183insTer)
|
rs886039578
|
|
|
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer)
|
rs878855075
|
|
|
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs)
|
rs878855075
|
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
|
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
|
rs1562213553
|
|
|
NM_022455.5(NSD1):c.3575del (p.Pro1192fs)
|
rs1064796114
|
|
|
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)
|
rs587784103
|
|
|
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)
|
rs797045814
|
|
|
NM_022455.5(NSD1):c.3580_3581insT (p.Asp1194fs)
|
rs1581326628
|
|
|
NM_022455.5(NSD1):c.3581_3582delinsG (p.Asp1194fs)
|
rs886041512
|
|
|
NM_022455.5(NSD1):c.3631_3632delinsA (p.Ala1211fs)
|
rs886042047
|
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
|
NM_022455.5(NSD1):c.3687del (p.Ala1230fs)
|
rs2149849204
|
|
|
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)
|
rs2149849285
|
|
|
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
|
rs1763397145
|
|
|
NM_022455.5(NSD1):c.3788del (p.Pro1263fs)
|
rs1763397665
|
|
|
NM_022455.5(NSD1):c.3796+1_3796+6del
|
|
|
|
NM_022455.5(NSD1):c.3818_3819del (p.Arg1273fs)
|
|
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
|
NM_022455.5(NSD1):c.3868del (p.Gln1290fs)
|
rs1554195302
|
|
|
NM_022455.5(NSD1):c.3891del (p.Lys1297fs)
|
rs1765403726
|
|
|
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
|
|
|
|
NM_022455.5(NSD1):c.3922-1G>C
|
rs1581407682
|
|
|
NM_022455.5(NSD1):c.3922-2_3925delinsG
|
rs1554195815
|
|
|
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)
|
rs797045815
|
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
|
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
|
rs1554195840
|
|
|
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)
|
rs2149887293
|
|
|
NM_022455.5(NSD1):c.4020del (p.Glu1341fs)
|
rs797045816
|
|
|
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)
|
rs1765615038
|
|
|
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)
|
rs587784109
|
|
|
NM_022455.5(NSD1):c.4058_4061del (p.Glu1353fs)
|
rs1554195857
|
|
|
NM_022455.5(NSD1):c.4072C>T (p.Gln1358Ter)
|
|
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
|
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
|
rs1581408152
|
|
|
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
|
rs1765618844
|
|
|
NM_022455.5(NSD1):c.4192+1G>A
|
rs2149887853
|
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
|
NM_022455.5(NSD1):c.4196del (p.Asn1399fs)
|
|
|
|
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter)
|
rs1581411478
|
|
|
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
|
rs1765712615
|
|
|
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs)
|
rs794727930
|
|
|
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs)
|
rs2149889364
|
|
|
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)
|
rs1765713589
|
|
|
NM_022455.5(NSD1):c.4242del (p.Glu1414fs)
|
|
|
|
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)
|
rs797045817
|
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
|
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)
|
rs587784112
|
|
|
NM_022455.5(NSD1):c.4302+1G>A
|
rs1562246533
|
|
|
NM_022455.5(NSD1):c.4303-3T>G
|
|
|
|
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter)
|
rs2149894799
|
|
|
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
|
|
|
|
NM_022455.5(NSD1):c.4376del (p.Gly1459fs)
|
rs587784114
|
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
|
NM_022455.5(NSD1):c.4378+1G>T
|
rs587784115
|
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
|
NM_022455.5(NSD1):c.4378+5G>C
|
rs1064793218
|
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
|
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter)
|
rs587784118
|
|
|
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs)
|
rs797045819
|
|
|
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter)
|
rs587784119
|
|
|
NM_022455.5(NSD1):c.4498-3A>G
|
rs587784120
|
|
|
NM_022455.5(NSD1):c.4514dup (p.His1505fs)
|
rs2149899468
|
|
|
NM_022455.5(NSD1):c.4529del (p.Ser1510fs)
|
rs587784121
|
|
|
NM_022455.5(NSD1):c.4569del (p.Met1525fs)
|
rs2149899647
|
|
|
NM_022455.5(NSD1):c.4636_4639del (p.Cys1546fs)
|
rs1554197794
|
|
|
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
|
|
|
|
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)
|
rs2149904394
|
|
|
NM_022455.5(NSD1):c.4658del (p.Gly1553fs)
|
rs886041615
|
|
|
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs)
|
rs2149904428
|
|
|
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)
|
rs587784122
|
|
|
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
|
rs1755987983
|
|
|
NM_022455.5(NSD1):c.4705del (p.Glu1569fs)
|
rs587784123
|
|
|
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs)
|
rs587784124
|
|
|
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs)
|
rs797045820
|
|
|
NM_022455.5(NSD1):c.4745del (p.Ile1582fs)
|
rs587784125
|
|
|
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter)
|
rs587784126
|
|
|
NM_022455.5(NSD1):c.4765+1G>A
|
rs1057520671
|
|
|
NM_022455.5(NSD1):c.4766-2A>G
|
rs1581457332
|
|
|
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr)
|
rs1554199368
|
|
|
NM_022455.5(NSD1):c.4801del (p.Glu1601fs)
|
rs1064793336
|
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
|
NM_022455.5(NSD1):c.4819_4820dup (p.Leu1608fs)
|
rs1554199392
|
|
|
NM_022455.5(NSD1):c.4825delinsGA (p.Pro1609fs)
|
rs1057518184
|
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
|
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)
|
rs587784128
|
|
|
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)
|
rs587784128
|
|
|
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs)
|
rs797045821
|
|
|
NM_022455.5(NSD1):c.4883del (p.Met1628fs)
|
rs2149912535
|
|
|
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)
|
rs587784129
|
|
|
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
|
|
|
|
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)
|
|
|
|
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs)
|
rs1562265336
|
|
|
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs)
|
rs1554199501
|
|
|
NM_022455.5(NSD1):c.4966+1G>A
|
rs587784131
|
|
|
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys)
|
rs587784132
|
|
|
NM_022455.5(NSD1):c.4967-2A>T
|
rs587784133
|
|
|
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs)
|
rs1562269320
|
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
|
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)
|
rs2149917734
|
|
|
NM_022455.5(NSD1):c.5020del (p.Cys1674fs)
|
rs1581468355
|
|
|
NM_022455.5(NSD1):c.5036C>G (p.Ser1679Ter)
|
rs1064796184
|
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
|
NM_022455.5(NSD1):c.5110dup (p.His1704fs)
|
rs1554200214
|
|
|
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)
|
rs2149918110
|
|
|
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter)
|
rs587784138
|
|
|
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
|
|
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
|
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)
|
rs1554201713
|
|
|
NM_022455.5(NSD1):c.5182G>C (p.Ala1728Pro)
|
rs1057520710
|
|
|
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)
|
rs2149931088
|
|
|
NM_022455.5(NSD1):c.5229G>A (p.Trp1743Ter)
|
rs1554201740
|
|
|
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
|
rs1757602433
|
|
|
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
|
|
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
|
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)
|
rs1581491984
|
|
|
NM_022455.5(NSD1):c.5303+1G>A
|
rs587784141
|
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
|
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter)
|
rs587784151
|
|
|
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs)
|
rs2127241978
|
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
|
NM_022455.5(NSD1):c.5622+1G>A
|
|
|
|
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
|
rs1758796866
|
|
|
NM_022455.5(NSD1):c.5699del (p.Thr1900fs)
|
rs1064793705
|
|
|
NM_022455.5(NSD1):c.5712del (p.Cys1905fs)
|
rs587784153
|
|
|
NM_022455.5(NSD1):c.5721dup (p.Asp1908fs)
|
rs1581527566
|
|
|
NM_022455.5(NSD1):c.5724del (p.Ser1909fs)
|
rs1562292879
|
|
|
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser)
|
rs2127257170
|
|
|
NM_022455.5(NSD1):c.5741G>T (p.Arg1914Leu)
|
rs587784155
|
|
|
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer)
|
rs2127257218
|
|
|
NM_022455.5(NSD1):c.5768_5769del (p.Thr1923fs)
|
rs1758801009
|
|
|
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs)
|
rs797045824
|
|
|
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)
|
rs587784157
|
|
|
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter)
|
rs587784158
|
|
|
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)
|
rs1581527842
|
|
|
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs)
|
rs2127257484
|
|
|
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)
|
rs1581527915
|
|
|
NM_022455.5(NSD1):c.5851C>T (p.Gln1951Ter)
|
rs1554204165
|
|
|
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)
|
rs886041219
|
|
|
NM_022455.5(NSD1):c.5855G>A (p.Arg1952Gln)
|
rs2127257571
|
|
|
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala)
|
rs2127257578
|
|
|
NM_022455.5(NSD1):c.5862G>A (p.Trp1954Ter)
|
rs587784160
|
|
|
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys)
|
rs587784160
|
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
|
NM_022455.5(NSD1):c.5892+1G>T
|
rs886039579
|
|
|
NM_022455.5(NSD1):c.5892+1del
|
rs1064793361
|
|
|
NM_022455.5(NSD1):c.5893-2A>G
|
rs587784163
|
|
|
NM_022455.5(NSD1):c.5898_5899insG (p.Phe1967fs)
|
rs1554204587
|
|
|
NM_022455.5(NSD1):c.5903del (p.Val1968fs)
|
rs587784164
|
|
|
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs)
|
rs587784165
|
|
|
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)
|
rs587784168
|
|
|
NM_022455.5(NSD1):c.5943del (p.Glu1980_Cys1981insTer)
|
rs886041734
|
|
|
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)
|
rs797045057
|
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
|
NM_022455.5(NSD1):c.5951G>C (p.Arg1984Pro)
|
rs587784169
|
|
|
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
|
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs)
|
rs1562295135
|
|
|
NM_022455.5(NSD1):c.6010-14_6016delinsC
|
rs1554204905
|
|
|
NM_022455.5(NSD1):c.6010-1G>A
|
rs1057520620
|
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
|
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs)
|
rs1554204923
|
|
|
NM_022455.5(NSD1):c.6030del (p.Gly2013fs)
|
|
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
|
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser)
|
rs587784178
|
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
|
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs)
|
rs797045826
|
|
|
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs)
|
rs797045827
|
|
|
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)
|
rs2127263139
|
|
|
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)
|
rs2127263172
|
|
|
NM_022455.5(NSD1):c.6151+1G>A
|
rs1562296511
|
|
|
NM_022455.5(NSD1):c.6152-1G>A
|
rs886044326
|
|
|
NM_022455.5(NSD1):c.6152-5T>G
|
rs755758018
|
|
|
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter)
|
rs587784183
|
|
|
NM_022455.5(NSD1):c.6165del (p.Phe2056fs)
|
rs587784184
|
|
|
NM_022455.5(NSD1):c.6170A>G (p.Asn2057Ser)
|
rs1554205939
|
|
|
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs)
|
rs1759550773
|
|
|
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs)
|
rs797045828
|
|
|
NM_022455.5(NSD1):c.6258+1G>A
|
rs587784185
|
|
|
NM_022455.5(NSD1):c.6258+1G>T
|
rs587784185
|
|
|
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs)
|
rs797045829
|
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
|
NM_022455.5(NSD1):c.6291del (p.Lys2098fs)
|
rs587784186
|
|
|
NM_022455.5(NSD1):c.6294del (p.Lys2098fs)
|
rs2127276076
|
|
|
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter)
|
rs587784187
|
|
|
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs)
|
rs797045830
|
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
|
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs)
|
rs587784189
|
|
|
NM_022455.5(NSD1):c.6317del (p.Lys2106fs)
|
rs1562305497
|
|
|
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs)
|
rs797045831
|
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
|
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)
|
rs1581558015
|
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
|
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)
|
rs587784193
|
|
|
NM_022455.5(NSD1):c.6391dup (p.Val2131fs)
|
rs2127276417
|
|
|
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
|
|
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
|
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln)
|
rs121908068
|
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
|
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr)
|
rs1554206834
|
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
|
NM_022455.5(NSD1):c.6440dup (p.Asn2148fs)
|
rs886042725
|
|
|
NM_022455.5(NSD1):c.6450dup (p.Lys2151fs)
|
rs864309639
|
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
|
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs)
|
rs2127276655
|
|
|
NM_022455.5(NSD1):c.6459_6463+5del
|
rs797045832
|
|
|
NM_022455.5(NSD1):c.6463+1G>A
|
rs398124381
|
|
|
NM_022455.5(NSD1):c.6463+5G>C
|
rs1057518175
|
|
|
NM_022455.5(NSD1):c.6471G>A (p.Trp2157Ter)
|
|
|
|
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter)
|
rs587784201
|
|
|
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)
|
rs1760056582
|
|
|
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr)
|
rs587784202
|
|
|
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter)
|
rs1060501494
|
|
|
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs)
|
rs1760057409
|
|
|
NM_022455.5(NSD1):c.6488del (p.Gln2163fs)
|
rs2127279186
|
|
|
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
|
rs1760058101
|
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
|
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs)
|
rs879253860
|
|
|
NM_022455.5(NSD1):c.6538_6539insC (p.Ser2180fs)
|
rs398124383
|
|
|
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs)
|
rs587784207
|
|
|
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
|
rs1760062897
|
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
|
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser)
|
rs121908069
|
|
|
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)
|
rs1581563059
|
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
|
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)
|
|
|
|
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser)
|
rs587784210
|
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
|
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
|
|
|
|
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
|
|
|
|
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)
|
rs1760069281
|
|
|
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His)
|
rs587784214
|
|
|
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
|
|
|
|
NM_022455.5(NSD1):c.7405del (p.Ala2469fs)
|
rs2127282737
|
|
|
NM_022455.5(NSD1):c.7603del (p.Gln2535fs)
|
rs2127283690
|
|
|
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)
|
rs749416834
|
|
|
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter)
|
rs797045834
|
|
|
NM_022455.5(NSD1):c.788_789del (p.Thr263fs)
|
rs1756282703
|
|
|
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs)
|
rs587784219
|
|
|
NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter)
|
rs797045058
|
|
|
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs)
|
rs1562312238
|
|
|
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)
|
|
|
|
NM_022455.5(NSD1):c.8034del (p.Pro2679fs)
|
rs1064794033
|
|
|
NM_022455.5(NSD1):c.8036del (p.Pro2679fs)
|
rs587784220
|
|
|
NM_022455.5(NSD1):c.8043del (p.Asn2682fs)
|
rs587784221
|
|
|
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
|
|
|
|
NM_022455.5(NSD1):c.858del (p.Ser287fs)
|
rs2149757050
|
|
|
NM_022455.5(NSD1):c.880_881del (p.Glu294fs)
|
rs1060501492
|
|
|
NM_022455.5(NSD1):c.896del (p.Ser299fs)
|
rs1562099585
|
|
|
NM_022455.5(NSD1):c.911C>A (p.Ser304Ter)
|
rs2149757179
|
|
|
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)
|
rs1554185405
|
|
|
Single allele
|
|
|