NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly)
|
rs570278338
|
0.00001
|
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His)
|
rs587784175
|
0.00001
|
NC_000005.9:g.(?_176618865)_(176619040_?)dup
|
|
|
NC_000005.9:g.(?_176631101)_(176631313_?)dup
|
|
|
NC_000005.9:g.(?_176662802)_(176662966_?)dup
|
|
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NM_022455.4:c.5623-?_c.8091+?del
|
|
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NM_022455.4:c.928-10312_3797-10414del
|
|
|
NM_022455.5(NSD1):c.1064-2A>G
|
rs2149836062
|
|
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
|
|
|
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
|
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
NM_022455.5(NSD1):c.197dup (p.Ser67fs)
|
rs1756220614
|
|
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter)
|
rs374740802
|
|
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
|
|
|
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
|
|
|
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs)
|
rs2149846876
|
|
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer)
|
rs1554189972
|
|
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs)
|
rs1763367673
|
|
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter)
|
rs1763389239
|
|
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)
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|
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NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
|
|
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NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
|
|
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NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
|
|
|
NM_022455.5(NSD1):c.4193-1G>A
|
rs1581411423
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
NM_022455.5(NSD1):c.4378+3_4378+6del
|
rs1562251194
|
|
NM_022455.5(NSD1):c.4379-2A>G
|
rs1581429903
|
|
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)
|
rs1581433729
|
|
NM_022455.5(NSD1):c.4642-2A>G
|
|
|
NM_022455.5(NSD1):c.4766-2A>G
|
rs1581457332
|
|
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
|
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
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|
|
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg)
|
rs2149912373
|
|
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser)
|
rs398124378
|
|
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
|
|
|
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
|
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr)
|
rs587784135
|
|
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser)
|
rs1756866850
|
|
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg)
|
rs1554200207
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)
|
|
|
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg)
|
rs1562278357
|
|
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr)
|
rs587784140
|
|
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
|
rs587784140
|
|
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)
|
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
|
|
|
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)
|
|
|
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
|
rs1758797036
|
|
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
|
|
|
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser)
|
rs1554204110
|
|
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer)
|
rs2127257129
|
|
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met)
|
rs1562292890
|
|
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
|
|
|
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro)
|
rs587784155
|
|
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)
|
rs1554204122
|
|
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)
|
rs1554204122
|
|
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser)
|
rs587784156
|
|
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp)
|
rs886041219
|
|
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
|
|
|
NM_022455.5(NSD1):c.5892+1G>A
|
rs886039579
|
|
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
|
|
|
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val)
|
rs587784166
|
|
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr)
|
rs587784167
|
|
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly)
|
rs587784173
|
|
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.6019A>T (p.Ile2007Phe)
|
rs1057516048
|
|
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)
|
rs1554204921
|
|
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
|
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6068_6151+174del
|
rs2127262979
|
|
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser)
|
rs587784180
|
|
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile)
|
rs587784181
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
|
|
|
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg)
|
rs1759551453
|
|
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
|
rs1759551453
|
|
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)
|
rs1581548112
|
|
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
|
|
|
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter)
|
rs1554206783
|
|
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu)
|
rs1562305653
|
|
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr)
|
rs587784195
|
|
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu)
|
rs587784196
|
|
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp)
|
rs1562305920
|
|
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)
|
rs1759885769
|
|
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs)
|
rs1554206836
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg)
|
rs1760056582
|
|
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro)
|
rs587784204
|
|
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)
|
rs2127279165
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg)
|
rs2127279302
|
|
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
|
rs398124382
|
|
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer)
|
rs797045833
|
|
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly)
|
rs1554207287
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
|
|
|
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr)
|
rs1554207316
|
|
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
|
|
|
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del)
|
rs587784211
|
|
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu)
|
rs1760068807
|
|
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val)
|
rs1554207690
|
|
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs)
|
rs2127282070
|
|
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
|
|
|
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
|
|
|
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)
|
|
|