NC_000005.10:g.(?_177135094)_(177295469_?)del
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NC_000005.10:g.(?_177235801)_(177239885_?)del
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NC_000005.10:g.(?_177280545)_(177283948_?)del
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NC_000005.10:g.(?_177288799)_(177288945_?)del
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NC_000005.9:g.(?_176289625)_(177151363_?)del
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NC_000005.9:g.(?_176638041)_(176722460_?)del
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NC_000005.9:g.(?_176720813)_(176722460_?)del
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NM_022455.5(NSD1):c.1163G>T (p.Gly388Val)
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rs2149836269
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NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
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rs1763175962
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NM_022455.5(NSD1):c.1299del (p.Lys435fs)
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NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter)
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rs1270264665
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NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter)
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rs1581315609
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NM_022455.5(NSD1):c.1654del (p.Ser552fs)
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rs1060501497
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NM_022455.5(NSD1):c.1760del (p.Gly587fs)
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rs1581316964
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NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
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rs587784076
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NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)
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rs1763225156
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NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
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rs587784077
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NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
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rs1481136060
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NM_022455.5(NSD1):c.1981del (p.Ser661fs)
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NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
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rs587784080
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NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs)
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rs2149844461
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NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
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rs1763249718
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NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs)
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rs2149844773
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NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
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rs1581319715
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NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
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rs1554189490
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NM_022455.5(NSD1):c.2334dup (p.His779fs)
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rs1554189512
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NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter)
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rs1057520339
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NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
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rs587784086
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NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
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NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
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NM_022455.5(NSD1):c.2605dup (p.Tyr869fs)
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rs2149845831
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NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
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rs1060501490
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NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter)
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rs2149845949
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NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
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rs1131691754
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NM_022455.5(NSD1):c.2674del (p.Ser892fs)
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rs2149846018
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NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
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rs2149846283
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NM_022455.5(NSD1):c.3031del (p.Ser1011fs)
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rs2149846959
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NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
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NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
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rs587784095
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NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
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rs587784096
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NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs)
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rs797045810
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NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
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rs587784098
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NM_022455.5(NSD1):c.3254del (p.Pro1085fs)
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rs2149847798
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NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
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rs587784101
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NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
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rs1554190214
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NM_022455.5(NSD1):c.3422del (p.Met1141fs)
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rs1554190247
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NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter)
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rs1562213291
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NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs)
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rs878855075
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NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
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rs797045813
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NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
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rs1562213553
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NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
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rs587784104
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NM_022455.5(NSD1):c.3687del (p.Ala1230fs)
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rs2149849204
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NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter)
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rs2149849285
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NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
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rs1763397145
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NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
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rs587784105
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NM_022455.5(NSD1):c.3868del (p.Gln1290fs)
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rs1554195302
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NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
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rs121908070
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NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
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rs587784107
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NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
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rs1554195840
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NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter)
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rs2149887293
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NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
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rs587784110
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NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
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rs1581408152
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NM_022455.5(NSD1):c.4124del (p.Val1375fs)
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rs1765618844
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NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
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rs1765712615
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NM_022455.5(NSD1):c.4303-3T>G
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NM_022455.5(NSD1):c.4378+3_4378+6del
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rs1562251194
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NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
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rs570278338
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NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
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rs587784117
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NM_022455.5(NSD1):c.4514dup (p.His1505fs)
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rs2149899468
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NM_022455.5(NSD1):c.4569del (p.Met1525fs)
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rs2149899647
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NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter)
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rs2149904394
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NM_022455.5(NSD1):c.4672dup (p.Cys1558fs)
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rs2149904428
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NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
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rs1755987983
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NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
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rs587784127
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NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
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rs1756522180
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NM_022455.5(NSD1):c.4883del (p.Met1628fs)
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rs2149912535
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NM_022455.5(NSD1):c.4932dup (p.Ala1645fs)
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rs1562265336
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NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu)
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rs2149917734
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NM_022455.5(NSD1):c.5020del (p.Cys1674fs)
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rs1581468355
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NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
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rs587784137
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NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
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NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)
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rs2149918110
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NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
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NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg)
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rs1554201713
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NM_022455.5(NSD1):c.5190T>G (p.His1730Gln)
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rs2149931088
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NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
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rs1757602433
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NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)
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rs1581491984
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NM_022455.5(NSD1):c.5304-1G>C
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rs863224905
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NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn)
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rs2149934255
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NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)
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rs794727176
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NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
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rs587784148
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NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs)
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rs1554202205
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NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)
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rs1757804086
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NM_022455.5(NSD1):c.5509+2T>G
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rs1581497997
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NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs)
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rs2127241978
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NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
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rs886041218
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NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
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rs587784152
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NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
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rs1758796866
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NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer)
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rs2127257218
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NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter)
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rs1581527915
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NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala)
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rs2127257578
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NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
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rs587784162
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|
NM_022455.5(NSD1):c.5892+1G>T
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rs886039579
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|
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter)
|
rs797045057
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
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rs587784169
|
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NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
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|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
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rs587784173
|
|
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.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
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.6152-5T>G
|
rs755758018
|
|
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs)
|
rs1759550773
|
|
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs)
|
rs2127276046
|
|
NM_022455.5(NSD1):c.6294del (p.Lys2098fs)
|
rs2127276076
|
|
NM_022455.5(NSD1):c.6317del (p.Lys2106fs)
|
rs1562305497
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022455.5(NSD1):c.6391dup (p.Val2131fs)
|
rs2127276417
|
|
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
|
|
|
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)
|
rs1060501493
|
|
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.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs)
|
rs2127276655
|
|
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser)
|
rs1760056582
|
|
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.6490T>C (p.Cys2164Arg)
|
rs1760058101
|
|
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
|
rs1760062897
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr)
|
rs121908071
|
|
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
|
|
|
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
|
|
|
NM_022455.5(NSD1):c.7603del (p.Gln2535fs)
|
rs2127283690
|
|
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter)
|
rs749416834
|
|
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
|
|
|
NM_022455.5(NSD1):c.880_881del (p.Glu294fs)
|
rs1060501492
|
|
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter)
|
rs1554185405
|
|