| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177293904_177293923delinsCCAGCTCCTTTTGTAAGCAG | CA1603535436 | NSD1 | c.5663_5682delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1888=) c.1178_1197delinsCCAGCTCCTTTTGTAAGCAG (p.Pro393=) n.6119_6138delinsCCAGCTCCTTTTGTAAGCAG n.952_971delinsCCAGCTCCTTTTGTAAGCAG c.6227_6246delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2076=) n.5933_5952delinsCCAGCTCCTTTTGTAAGCAG c.6536_6555delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2179=) c.5729_5748delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1910=) c.2030_2049delinsCCAGCTCCTTTTGTAAGCAG (p.Pro677=) c.6116_6135delinsCCAGCTCCTTTTGTAAGCAG (p.Pro2039=) c.5480_5499delinsCCAGCTCCTTTTGTAAGCAG (p.Pro1827=) c.2270_2289delinsCCAGCTCCTTTTGTAAGCAG (p.Pro757=) | |
| 5 | g.177293907_177293925del | CA295098 | NSD1 | c.5666_5684del (p.Ser1889IlefsTer?) c.1181_1199del (p.Ser394IlefsTer?) n.6122_6140del n.955_973del c.6230_6248del (p.Ser2077IlefsTer?) n.5936_5954del c.6539_6557del (p.Ser2180IlefsTer?) c.5732_5750del (p.Ser1911IlefsTer?) c.2033_2051del (p.Ser678IlefsTer?) c.6119_6137del (p.Ser2040IlefsTer?) c.5483_5501del (p.Ser1828IlefsTer?) c.2273_2291del (p.Ser758IlefsTer?) | ClinVar dbSNP |
| 5 | g.177293918A>C | CA362323897 | NSD1 | c.5677A>C (p.Lys1893Gln) c.1192A>C (p.Lys398Gln) n.6133A>C n.966A>C c.6241A>C (p.Lys2081Gln) n.5947A>C c.6550A>C (p.Lys2184Gln) c.5743A>C (p.Lys1915Gln) c.2044A>C (p.Lys682Gln) c.6130A>C (p.Lys2044Gln) c.5494A>C (p.Lys1832Gln) c.2284A>C (p.Lys762Gln) | |
| 5 | g.177293918A>G | CA362323898 | NSD1 | c.5677A>G (p.Lys1893Glu) c.1192A>G (p.Lys398Glu) n.6133A>G n.966A>G c.6241A>G (p.Lys2081Glu) n.5947A>G c.6550A>G (p.Lys2184Glu) c.5743A>G (p.Lys1915Glu) c.2044A>G (p.Lys682Glu) c.6130A>G (p.Lys2044Glu) c.5494A>G (p.Lys1832Glu) c.2284A>G (p.Lys762Glu) | |
| 5 | g.177293918A>T | CA362323901 | NSD1 | c.5677A>T (p.Lys1893Ter) c.1192A>T (p.Lys398Ter) n.6133A>T n.966A>T c.6241A>T (p.Lys2081Ter) n.5947A>T c.6550A>T (p.Lys2184Ter) c.5743A>T (p.Lys1915Ter) c.2044A>T (p.Lys682Ter) c.6130A>T (p.Lys2044Ter) c.5494A>T (p.Lys1832Ter) c.2284A>T (p.Lys762Ter) | |
| 5 | g.177293919A= | CA1603535478 | NSD1 | c.5678A= (p.Lys1893=) c.1193A= (p.Lys398=) n.6134A= n.967A= c.6242A= (p.Lys2081=) n.5948A= c.6551A= (p.Lys2184=) c.5744A= (p.Lys1915=) c.2045A= (p.Lys682=) c.6131A= (p.Lys2044=) c.5495A= (p.Lys1832=) c.2285A= (p.Lys762=) | |
| 5 | g.177293919A>C | CA362323908 | NSD1 | c.5678A>C (p.Lys1893Thr) c.1193A>C (p.Lys398Thr) n.6134A>C n.967A>C c.6242A>C (p.Lys2081Thr) n.5948A>C c.6551A>C (p.Lys2184Thr) c.5744A>C (p.Lys1915Thr) c.2045A>C (p.Lys682Thr) c.6131A>C (p.Lys2044Thr) c.5495A>C (p.Lys1832Thr) c.2285A>C (p.Lys762Thr) | |
| 5 | g.177293919A>G | CA362323904 | NSD1 | c.5678A>G (p.Lys1893Arg) c.1193A>G (p.Lys398Arg) n.6134A>G n.967A>G c.6242A>G (p.Lys2081Arg) n.5948A>G c.6551A>G (p.Lys2184Arg) c.5744A>G (p.Lys1915Arg) c.2045A>G (p.Lys682Arg) c.6131A>G (p.Lys2044Arg) c.5495A>G (p.Lys1832Arg) c.2285A>G (p.Lys762Arg) | dbSNP |
| 5 | g.177293919A>T | CA362323903 | NSD1 | c.5678A>T (p.Lys1893Met) c.1193A>T (p.Lys398Met) n.6134A>T n.967A>T c.6242A>T (p.Lys2081Met) n.5948A>T c.6551A>T (p.Lys2184Met) c.5744A>T (p.Lys1915Met) c.2045A>T (p.Lys682Met) c.6131A>T (p.Lys2044Met) c.5495A>T (p.Lys1832Met) c.2285A>T (p.Lys762Met) | |
| 5 | g.177293920G>A | CA447961368 | NSD1 | c.5679G>A (p.Lys1893=) c.1194G>A (p.Lys398=) n.6135G>A n.968G>A c.6243G>A (p.Lys2081=) n.5949G>A c.6552G>A (p.Lys2184=) c.5745G>A (p.Lys1915=) c.2046G>A (p.Lys682=) c.6132G>A (p.Lys2044=) c.5496G>A (p.Lys1832=) c.2286G>A (p.Lys762=) | |
| 5 | g.177293920G>C | CA362323912 | NSD1 | c.5679G>C (p.Lys1893Asn) c.1194G>C (p.Lys398Asn) n.6135G>C n.968G>C c.6243G>C (p.Lys2081Asn) n.5949G>C c.6552G>C (p.Lys2184Asn) c.5745G>C (p.Lys1915Asn) c.2046G>C (p.Lys682Asn) c.6132G>C (p.Lys2044Asn) c.5496G>C (p.Lys1832Asn) c.2286G>C (p.Lys762Asn) | |
| 5 | g.177293920G>T | CA362323914 | NSD1 | c.5679G>T (p.Lys1893Asn) c.1194G>T (p.Lys398Asn) n.6135G>T n.968G>T c.6243G>T (p.Lys2081Asn) n.5949G>T c.6552G>T (p.Lys2184Asn) c.5745G>T (p.Lys1915Asn) c.2046G>T (p.Lys682Asn) c.6132G>T (p.Lys2044Asn) c.5496G>T (p.Lys1832Asn) c.2286G>T (p.Lys762Asn) | |
| 5 | g.177293921C>A | CA362323917 | NSD1 | c.5680C>A (p.Gln1894Lys) c.1195C>A (p.Gln399Lys) n.6136C>A n.969C>A c.6244C>A (p.Gln2082Lys) n.5950C>A c.6553C>A (p.Gln2185Lys) c.5746C>A (p.Gln1916Lys) c.2047C>A (p.Gln683Lys) c.6133C>A (p.Gln2045Lys) c.5497C>A (p.Gln1833Lys) c.2287C>A (p.Gln763Lys) | |
| 5 | g.177293921C= | CA1603535484 | NSD1 | c.5680C= (p.Gln1894=) c.1195C= (p.Gln399=) n.6136C= n.969C= c.6244C= (p.Gln2082=) n.5950C= c.6553C= (p.Gln2185=) c.5746C= (p.Gln1916=) c.2047C= (p.Gln683=) c.6133C= (p.Gln2045=) c.5497C= (p.Gln1833=) c.2287C= (p.Gln763=) | |
| 5 | g.177293921C>G | CA362323919 | NSD1 | c.5680C>G (p.Gln1894Glu) c.1195C>G (p.Gln399Glu) n.6136C>G n.969C>G c.6244C>G (p.Gln2082Glu) n.5950C>G c.6553C>G (p.Gln2185Glu) c.5746C>G (p.Gln1916Glu) c.2047C>G (p.Gln683Glu) c.6133C>G (p.Gln2045Glu) c.5497C>G (p.Gln1833Glu) c.2287C>G (p.Gln763Glu) | |
| 5 | g.177293921C>T | CA362323921 | NSD1 | c.5680C>T (p.Gln1894Ter) c.1195C>T (p.Gln399Ter) n.6136C>T n.969C>T c.6244C>T (p.Gln2082Ter) n.5950C>T c.6553C>T (p.Gln2185Ter) c.5746C>T (p.Gln1916Ter) c.2047C>T (p.Gln683Ter) c.6133C>T (p.Gln2045Ter) c.5497C>T (p.Gln1833Ter) c.2287C>T (p.Gln763Ter) | ClinVar dbSNP |
| 5 | g.177293922A>C | CA362323924 | NSD1 | c.5681A>C (p.Gln1894Pro) c.1196A>C (p.Gln399Pro) n.6137A>C n.970A>C c.6245A>C (p.Gln2082Pro) n.5951A>C c.6554A>C (p.Gln2185Pro) c.5747A>C (p.Gln1916Pro) c.2048A>C (p.Gln683Pro) c.6134A>C (p.Gln2045Pro) c.5498A>C (p.Gln1833Pro) c.2288A>C (p.Gln763Pro) | |
| 5 | g.177293922A>G | CA362323928 | NSD1 | c.5681A>G (p.Gln1894Arg) c.1196A>G (p.Gln399Arg) n.6137A>G n.970A>G c.6245A>G (p.Gln2082Arg) n.5951A>G c.6554A>G (p.Gln2185Arg) c.5747A>G (p.Gln1916Arg) c.2048A>G (p.Gln683Arg) c.6134A>G (p.Gln2045Arg) c.5498A>G (p.Gln1833Arg) c.2288A>G (p.Gln763Arg) | |
| 5 | g.177293922A>T | CA362323931 | NSD1 | c.5681A>T (p.Gln1894Leu) c.1196A>T (p.Gln399Leu) n.6137A>T n.970A>T c.6245A>T (p.Gln2082Leu) n.5951A>T c.6554A>T (p.Gln2185Leu) c.5747A>T (p.Gln1916Leu) c.2048A>T (p.Gln683Leu) c.6134A>T (p.Gln2045Leu) c.5498A>T (p.Gln1833Leu) c.2288A>T (p.Gln763Leu) | |
| 5 | g.177293923G>A | CA447961374 | NSD1 | c.5682G>A (p.Gln1894=) c.1197G>A (p.Gln399=) n.6138G>A n.971G>A c.6246G>A (p.Gln2082=) n.5952G>A c.6555G>A (p.Gln2185=) c.5748G>A (p.Gln1916=) c.2049G>A (p.Gln683=) c.6135G>A (p.Gln2045=) c.5499G>A (p.Gln1833=) c.2289G>A (p.Gln763=) | dbSNP |
| 5 | g.177293923G>C | CA362323935 | NSD1 | c.5682G>C (p.Gln1894His) c.1197G>C (p.Gln399His) n.6138G>C n.971G>C c.6246G>C (p.Gln2082His) n.5952G>C c.6555G>C (p.Gln2185His) c.5748G>C (p.Gln1916His) c.2049G>C (p.Gln683His) c.6135G>C (p.Gln2045His) c.5499G>C (p.Gln1833His) c.2289G>C (p.Gln763His) | |
| 5 | g.177293923G>T | CA362323937 | NSD1 | c.5682G>T (p.Gln1894His) c.1197G>T (p.Gln399His) n.6138G>T n.971G>T c.6246G>T (p.Gln2082His) n.5952G>T c.6555G>T (p.Gln2185His) c.5748G>T (p.Gln1916His) c.2049G>T (p.Gln683His) c.6135G>T (p.Gln2045His) c.5499G>T (p.Gln1833His) c.2289G>T (p.Gln763His) | |
| 5 | g.177293923_177293924insAATA | CA2555313706 | NSD1 | c.5682_5683insAATA (p.His1895AsnfsTer20) c.1197_1198insAATA (p.His400AsnfsTer20) n.6138_6139insAATA n.971_972insAATA c.6246_6247insAATA (p.His2083AsnfsTer20) n.5952_5953insAATA c.6555_6556insAATA (p.His2186AsnfsTer20) c.5748_5749insAATA (p.His1917AsnfsTer20) c.2049_2050insAATA (p.His684AsnfsTer20) c.6135_6136insAATA (p.His2046AsnfsTer20) c.5499_5500insAATA (p.His1834AsnfsTer20) c.2289_2290insAATA (p.His764AsnfsTer20) | |
| 5 | g.177293924C>A | CA362323940 | NSD1 | c.5683C>A (p.His1895Asn) c.1198C>A (p.His400Asn) n.6139C>A n.972C>A c.6247C>A (p.His2083Asn) n.5953C>A c.6556C>A (p.His2186Asn) c.5749C>A (p.His1917Asn) c.2050C>A (p.His684Asn) c.6136C>A (p.His2046Asn) c.5500C>A (p.His1834Asn) c.2290C>A (p.His764Asn) | dbSNP |
| 5 | g.177293924C>G | CA362323943 | NSD1 | c.5683C>G (p.His1895Asp) c.1198C>G (p.His400Asp) n.6139C>G n.972C>G c.6247C>G (p.His2083Asp) n.5953C>G c.6556C>G (p.His2186Asp) c.5749C>G (p.His1917Asp) c.2050C>G (p.His684Asp) c.6136C>G (p.His2046Asp) c.5500C>G (p.His1834Asp) c.2290C>G (p.His764Asp) | |
| 5 | g.177293924C>T | CA362323946 | NSD1 | c.5683C>T (p.His1895Tyr) c.1198C>T (p.His400Tyr) n.6139C>T n.972C>T c.6247C>T (p.His2083Tyr) n.5953C>T c.6556C>T (p.His2186Tyr) c.5749C>T (p.His1917Tyr) c.2050C>T (p.His684Tyr) c.6136C>T (p.His2046Tyr) c.5500C>T (p.His1834Tyr) c.2290C>T (p.His764Tyr) | dbSNP |
| 5 | g.177293925A= | CA1603535492 | NSD1 | c.5684A= (p.His1895=) c.1199A= (p.His400=) n.6140A= n.973A= c.6248A= (p.His2083=) n.5954A= c.6557A= (p.His2186=) c.5750A= (p.His1917=) c.2051A= (p.His684=) c.6137A= (p.His2046=) c.5501A= (p.His1834=) c.2291A= (p.His764=) | |
| 5 | g.177293925A>C | CA362323948 | NSD1 | c.5684A>C (p.His1895Pro) c.1199A>C (p.His400Pro) n.6140A>C n.973A>C c.6248A>C (p.His2083Pro) n.5954A>C c.6557A>C (p.His2186Pro) c.5750A>C (p.His1917Pro) c.2051A>C (p.His684Pro) c.6137A>C (p.His2046Pro) c.5501A>C (p.His1834Pro) c.2291A>C (p.His764Pro) | |
| 5 | g.177293925A>G | CA295099 | NSD1 | c.5684A>G (p.His1895Arg) c.1199A>G (p.His400Arg) n.6140A>G n.973A>G c.6248A>G (p.His2083Arg) n.5954A>G c.6557A>G (p.His2186Arg) c.5750A>G (p.His1917Arg) c.2051A>G (p.His684Arg) c.6137A>G (p.His2046Arg) c.5501A>G (p.His1834Arg) c.2291A>G (p.His764Arg) | ClinVar dbSNP |
| 5 | g.177293925A>T | CA362323953 | NSD1 | c.5684A>T (p.His1895Leu) c.1199A>T (p.His400Leu) n.6140A>T n.973A>T c.6248A>T (p.His2083Leu) n.5954A>T c.6557A>T (p.His2186Leu) c.5750A>T (p.His1917Leu) c.2051A>T (p.His684Leu) c.6137A>T (p.His2046Leu) c.5501A>T (p.His1834Leu) c.2291A>T (p.His764Leu) | |
| 5 | g.177293926T>A | CA362323960 | NSD1 | c.5685T>A (p.His1895Gln) c.1200T>A (p.His400Gln) n.6141T>A n.974T>A c.6249T>A (p.His2083Gln) n.5955T>A c.6558T>A (p.His2186Gln) c.5751T>A (p.His1917Gln) c.2052T>A (p.His684Gln) c.6138T>A (p.His2046Gln) c.5502T>A (p.His1834Gln) c.2292T>A (p.His764Gln) | |
| 5 | g.177293926T>C | CA447961379 | NSD1 | c.5685T>C (p.His1895=) c.1200T>C (p.His400=) n.6141T>C n.974T>C c.6249T>C (p.His2083=) n.5955T>C c.6558T>C (p.His2186=) c.5751T>C (p.His1917=) c.2052T>C (p.His684=) c.6138T>C (p.His2046=) c.5502T>C (p.His1834=) c.2292T>C (p.His764=) | |
| 5 | g.177293926T>G | CA362323963 | NSD1 | c.5685T>G (p.His1895Gln) c.1200T>G (p.His400Gln) n.6141T>G n.974T>G c.6249T>G (p.His2083Gln) n.5955T>G c.6558T>G (p.His2186Gln) c.5751T>G (p.His1917Gln) c.2052T>G (p.His684Gln) c.6138T>G (p.His2046Gln) c.5502T>G (p.His1834Gln) c.2292T>G (p.His764Gln) | |
| 5 | g.177293927C>A | CA447961380 | NSD1 | c.5686C>A (p.Arg1896=) c.1201C>A (p.Arg401=) n.6142C>A n.975C>A c.6250C>A (p.Arg2084=) n.5956C>A c.6559C>A (p.Arg2187=) c.5752C>A (p.Arg1918=) c.2053C>A (p.Arg685=) c.6139C>A (p.Arg2047=) c.5503C>A (p.Arg1835=) c.2293C>A (p.Arg765=) | dbSNP |
| 5 | g.177293927C= | CA1603535500 | NSD1 | c.5686C= (p.Arg1896=) c.1201C= (p.Arg401=) n.6142C= n.975C= c.6250C= (p.Arg2084=) n.5956C= c.6559C= (p.Arg2187=) c.5752C= (p.Arg1918=) c.2053C= (p.Arg685=) c.6139C= (p.Arg2047=) c.5503C= (p.Arg1835=) c.2293C= (p.Arg765=) | |
| 5 | g.177293927C>G | CA362323966 | NSD1 | c.5686C>G (p.Arg1896Gly) c.1201C>G (p.Arg401Gly) n.6142C>G n.975C>G c.6250C>G (p.Arg2084Gly) n.5956C>G c.6559C>G (p.Arg2187Gly) c.5752C>G (p.Arg1918Gly) c.2053C>G (p.Arg685Gly) c.6139C>G (p.Arg2047Gly) c.5503C>G (p.Arg1835Gly) c.2293C>G (p.Arg765Gly) | dbSNP |
| 5 | g.177293927C>T | CA295102 | NSD1 | c.5686C>T (p.Arg1896Ter) c.1201C>T (p.Arg401Ter) n.6142C>T n.975C>T c.6250C>T (p.Arg2084Ter) n.5956C>T c.6559C>T (p.Arg2187Ter) c.5752C>T (p.Arg1918Ter) c.2053C>T (p.Arg685Ter) c.6139C>T (p.Arg2047Ter) c.5503C>T (p.Arg1835Ter) c.2293C>T (p.Arg765Ter) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.177293927_177293930del | CA2544542657 | NSD1 | c.5686_5689del (p.Arg1896LysfsTer?) c.1201_1204del (p.Arg401LysfsTer?) n.6142_6145del n.975_978del c.6250_6253del (p.Arg2084LysfsTer?) n.5956_5959del c.6559_6562del (p.Arg2187LysfsTer?) c.5752_5755del (p.Arg1918LysfsTer?) c.2053_2056del (p.Arg685LysfsTer?) c.6139_6142del (p.Arg2047LysfsTer?) c.5503_5506del (p.Arg1835LysfsTer?) c.2293_2296del (p.Arg765LysfsTer?) | |
| 5 | g.177293928G>A | CA362323971 | NSD1 | c.5687G>A (p.Arg1896Gln) c.1202G>A (p.Arg401Gln) n.6143G>A n.976G>A c.6251G>A (p.Arg2084Gln) n.5957G>A c.6560G>A (p.Arg2187Gln) c.5753G>A (p.Arg1918Gln) c.2054G>A (p.Arg685Gln) c.6140G>A (p.Arg2047Gln) c.5504G>A (p.Arg1835Gln) c.2294G>A (p.Arg765Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177293928G>C | CA362323974 | NSD1 | c.5687G>C (p.Arg1896Pro) c.1202G>C (p.Arg401Pro) n.6143G>C n.976G>C c.6251G>C (p.Arg2084Pro) n.5957G>C c.6560G>C (p.Arg2187Pro) c.5753G>C (p.Arg1918Pro) c.2054G>C (p.Arg685Pro) c.6140G>C (p.Arg2047Pro) c.5504G>C (p.Arg1835Pro) c.2294G>C (p.Arg765Pro) | dbSNP |
| 5 | g.177293928G= | CA1603535506 | NSD1 | c.5687G= (p.Arg1896=) c.1202G= (p.Arg401=) n.6143G= n.976G= c.6251G= (p.Arg2084=) n.5957G= c.6560G= (p.Arg2187=) c.5753G= (p.Arg1918=) c.2054G= (p.Arg685=) c.6140G= (p.Arg2047=) c.5504G= (p.Arg1835=) c.2294G= (p.Arg765=) | |
| 5 | g.177293928G>T | CA362323975 | NSD1 | c.5687G>T (p.Arg1896Leu) c.1202G>T (p.Arg401Leu) n.6143G>T n.976G>T c.6251G>T (p.Arg2084Leu) n.5957G>T c.6560G>T (p.Arg2187Leu) c.5753G>T (p.Arg1918Leu) c.2054G>T (p.Arg685Leu) c.6140G>T (p.Arg2047Leu) c.5504G>T (p.Arg1835Leu) c.2294G>T (p.Arg765Leu) | |
| 5 | g.177293929A= | CA1603535512 | NSD1 | c.5688A= (p.Arg1896=) c.1203A= (p.Arg401=) n.6144A= n.977A= c.6252A= (p.Arg2084=) n.5958A= c.6561A= (p.Arg2187=) c.5754A= (p.Arg1918=) c.2055A= (p.Arg685=) c.6141A= (p.Arg2047=) c.5505A= (p.Arg1835=) c.2295A= (p.Arg765=) | |
| 5 | g.177293929A>C | CA447961384 | NSD1 | c.5688A>C (p.Arg1896=) c.1203A>C (p.Arg401=) n.6144A>C n.977A>C c.6252A>C (p.Arg2084=) n.5958A>C c.6561A>C (p.Arg2187=) c.5754A>C (p.Arg1918=) c.2055A>C (p.Arg685=) c.6141A>C (p.Arg2047=) c.5505A>C (p.Arg1835=) c.2295A>C (p.Arg765=) | |
| 5 | g.177293929A>G | CA447961383 | NSD1 | c.5688A>G (p.Arg1896=) c.1203A>G (p.Arg401=) n.6144A>G n.977A>G c.6252A>G (p.Arg2084=) n.5958A>G c.6561A>G (p.Arg2187=) c.5754A>G (p.Arg1918=) c.2055A>G (p.Arg685=) c.6141A>G (p.Arg2047=) c.5505A>G (p.Arg1835=) c.2295A>G (p.Arg765=) | |
| 5 | g.177293929A>T | CA447961382 | NSD1 | c.5688A>T (p.Arg1896=) c.1203A>T (p.Arg401=) n.6144A>T n.977A>T c.6252A>T (p.Arg2084=) n.5958A>T c.6561A>T (p.Arg2187=) c.5754A>T (p.Arg1918=) c.2055A>T (p.Arg685=) c.6141A>T (p.Arg2047=) c.5505A>T (p.Arg1835=) c.2295A>T (p.Arg765=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177293931_177293933dup | CA2676692106 | NSD1 | c.5690_5692dup (p.Glu1897_Gly1898insGlu) c.1205_1207dup (p.Glu402_Gly403insGlu) n.6146_6148dup n.979_981dup c.6254_6256dup (p.Glu2085_Gly2086insGlu) n.5960_5962dup c.6563_6565dup (p.Glu2188_Gly2189insGlu) c.5756_5758dup (p.Glu1919_Gly1920insGlu) c.2057_2059dup (p.Glu686_Gly687insGlu) c.6143_6145dup (p.Glu2048_Gly2049insGlu) c.5507_5509dup (p.Glu1836_Gly1837insGlu) c.2297_2299dup (p.Glu766_Gly767insGlu) | gnomAD v4 |
| 5 | g.177293930G>A | CA362323980 | NSD1 | c.5689G>A (p.Glu1897Lys) c.1204G>A (p.Glu402Lys) n.6145G>A n.978G>A c.6253G>A (p.Glu2085Lys) n.5959G>A c.6562G>A (p.Glu2188Lys) c.5755G>A (p.Glu1919Lys) c.2056G>A (p.Glu686Lys) c.6142G>A (p.Glu2048Lys) c.5506G>A (p.Glu1836Lys) c.2296G>A (p.Glu766Lys) | |
| 5 | g.177293930G>C | CA362323983 | NSD1 | c.5689G>C (p.Glu1897Gln) c.1204G>C (p.Glu402Gln) n.6145G>C n.978G>C c.6253G>C (p.Glu2085Gln) n.5959G>C c.6562G>C (p.Glu2188Gln) c.5755G>C (p.Glu1919Gln) c.2056G>C (p.Glu686Gln) c.6142G>C (p.Glu2048Gln) c.5506G>C (p.Glu1836Gln) c.2296G>C (p.Glu766Gln) | |
| 5 | g.177293930G>T | CA362323984 | NSD1 | c.5689G>T (p.Glu1897Ter) c.1204G>T (p.Glu402Ter) n.6145G>T n.978G>T c.6253G>T (p.Glu2085Ter) n.5959G>T c.6562G>T (p.Glu2188Ter) c.5755G>T (p.Glu1919Ter) c.2056G>T (p.Glu686Ter) c.6142G>T (p.Glu2048Ter) c.5506G>T (p.Glu1836Ter) c.2296G>T (p.Glu766Ter) | |
| 5 | g.177293930_177293935delinsA | CA2695205751 | NSD1 | c.5689_5694delinsA (p.Glu1897AsnfsTer15) c.1204_1209delinsA (p.Glu402AsnfsTer15) n.6145_6150delinsA n.978_983delinsA c.6253_6258delinsA (p.Glu2085AsnfsTer15) n.5959_5964delinsA c.6562_6567delinsA (p.Glu2188AsnfsTer15) c.5755_5760delinsA (p.Glu1919AsnfsTer15) c.2056_2061delinsA (p.Glu686AsnfsTer15) c.6142_6147delinsA (p.Glu2048AsnfsTer15) c.5506_5511delinsA (p.Glu1836AsnfsTer15) c.2296_2301delinsA (p.Glu766AsnfsTer15) | |
| 5 | g.177293931A>C | CA362323989 | NSD1 | c.5690A>C (p.Glu1897Ala) c.1205A>C (p.Glu402Ala) n.6146A>C n.979A>C c.6254A>C (p.Glu2085Ala) n.5960A>C c.6563A>C (p.Glu2188Ala) c.5756A>C (p.Glu1919Ala) c.2057A>C (p.Glu686Ala) c.6143A>C (p.Glu2048Ala) c.5507A>C (p.Glu1836Ala) c.2297A>C (p.Glu766Ala) | |
| 5 | g.177293931A>G | CA362323990 | NSD1 | c.5690A>G (p.Glu1897Gly) c.1205A>G (p.Glu402Gly) n.6146A>G n.979A>G c.6254A>G (p.Glu2085Gly) n.5960A>G c.6563A>G (p.Glu2188Gly) c.5756A>G (p.Glu1919Gly) c.2057A>G (p.Glu686Gly) c.6143A>G (p.Glu2048Gly) c.5507A>G (p.Glu1836Gly) c.2297A>G (p.Glu766Gly) | |
| 5 | g.177293931A>T | CA362323987 | NSD1 | c.5690A>T (p.Glu1897Val) c.1205A>T (p.Glu402Val) n.6146A>T n.979A>T c.6254A>T (p.Glu2085Val) n.5960A>T c.6563A>T (p.Glu2188Val) c.5756A>T (p.Glu1919Val) c.2057A>T (p.Glu686Val) c.6143A>T (p.Glu2048Val) c.5507A>T (p.Glu1836Val) c.2297A>T (p.Glu766Val) | |
| 5 | g.177293932A>C | CA362323996 | NSD1 | c.5691A>C (p.Glu1897Asp) c.1206A>C (p.Glu402Asp) n.6147A>C n.980A>C c.6255A>C (p.Glu2085Asp) n.5961A>C c.6564A>C (p.Glu2188Asp) c.5757A>C (p.Glu1919Asp) c.2058A>C (p.Glu686Asp) c.6144A>C (p.Glu2048Asp) c.5508A>C (p.Glu1836Asp) c.2298A>C (p.Glu766Asp) | |
| 5 | g.177293932A>G | CA447961387 | NSD1 | c.5691A>G (p.Glu1897=) c.1206A>G (p.Glu402=) n.6147A>G n.980A>G c.6255A>G (p.Glu2085=) n.5961A>G c.6564A>G (p.Glu2188=) c.5757A>G (p.Glu1919=) c.2058A>G (p.Glu686=) c.6144A>G (p.Glu2048=) c.5508A>G (p.Glu1836=) c.2298A>G (p.Glu766=) | |
| 5 | g.177293932A>T | CA362323993 | NSD1 | c.5691A>T (p.Glu1897Asp) c.1206A>T (p.Glu402Asp) n.6147A>T n.980A>T c.6255A>T (p.Glu2085Asp) n.5961A>T c.6564A>T (p.Glu2188Asp) c.5757A>T (p.Glu1919Asp) c.2058A>T (p.Glu686Asp) c.6144A>T (p.Glu2048Asp) c.5508A>T (p.Glu1836Asp) c.2298A>T (p.Glu766Asp) | |
| 5 | g.177293933G>A | CA362323998 | NSD1 | c.5692G>A (p.Gly1898Arg) c.1207G>A (p.Gly403Arg) n.6148G>A n.981G>A c.6256G>A (p.Gly2086Arg) n.5962G>A c.6565G>A (p.Gly2189Arg) c.5758G>A (p.Gly1920Arg) c.2059G>A (p.Gly687Arg) c.6145G>A (p.Gly2049Arg) c.5509G>A (p.Gly1837Arg) c.2299G>A (p.Gly767Arg) | |
| 5 | g.177293933G>C | CA362324001 | NSD1 | c.5692G>C (p.Gly1898Arg) c.1207G>C (p.Gly403Arg) n.6148G>C n.981G>C c.6256G>C (p.Gly2086Arg) n.5962G>C c.6565G>C (p.Gly2189Arg) c.5758G>C (p.Gly1920Arg) c.2059G>C (p.Gly687Arg) c.6145G>C (p.Gly2049Arg) c.5509G>C (p.Gly1837Arg) c.2299G>C (p.Gly767Arg) | |
| 5 | g.177293933G>T | CA362324003 | NSD1 | c.5692G>T (p.Gly1898Trp) c.1207G>T (p.Gly403Trp) n.6148G>T n.981G>T c.6256G>T (p.Gly2086Trp) n.5962G>T c.6565G>T (p.Gly2189Trp) c.5758G>T (p.Gly1920Trp) c.2059G>T (p.Gly687Trp) c.6145G>T (p.Gly2049Trp) c.5509G>T (p.Gly1837Trp) c.2299G>T (p.Gly767Trp) | |
| 5 | g.177293934_177293935dup | CA2697546198 | NSD1 | c.5693_5694dup (p.Met1899GlyfsTer?) c.1208_1209dup (p.Met404GlyfsTer?) n.6149_6150dup n.982_983dup c.6257_6258dup (p.Met2087GlyfsTer?) n.5963_5964dup c.6566_6567dup (p.Met2190GlyfsTer?) c.5759_5760dup (p.Met1921GlyfsTer?) c.2060_2061dup (p.Met688GlyfsTer?) c.6146_6147dup (p.Met2050GlyfsTer?) c.5510_5511dup (p.Met1838GlyfsTer?) c.2300_2301dup (p.Met768GlyfsTer?) | ClinVar |
| 5 | g.177293934G>A | CA362324008 | NSD1 | c.5693G>A (p.Gly1898Glu) c.1208G>A (p.Gly403Glu) n.6149G>A n.982G>A c.6257G>A (p.Gly2086Glu) n.5963G>A c.6566G>A (p.Gly2189Glu) c.5759G>A (p.Gly1920Glu) c.2060G>A (p.Gly687Glu) c.6146G>A (p.Gly2049Glu) c.5510G>A (p.Gly1837Glu) c.2300G>A (p.Gly767Glu) | |
| 5 | g.177293934G>C | CA362324011 | NSD1 | c.5693G>C (p.Gly1898Ala) c.1208G>C (p.Gly403Ala) n.6149G>C n.982G>C c.6257G>C (p.Gly2086Ala) n.5963G>C c.6566G>C (p.Gly2189Ala) c.5759G>C (p.Gly1920Ala) c.2060G>C (p.Gly687Ala) c.6146G>C (p.Gly2049Ala) c.5510G>C (p.Gly1837Ala) c.2300G>C (p.Gly767Ala) | |
| 5 | g.177293934G>T | CA362324014 | NSD1 | c.5693G>T (p.Gly1898Val) c.1208G>T (p.Gly403Val) n.6149G>T n.982G>T c.6257G>T (p.Gly2086Val) n.5963G>T c.6566G>T (p.Gly2189Val) c.5759G>T (p.Gly1920Val) c.2060G>T (p.Gly687Val) c.6146G>T (p.Gly2049Val) c.5510G>T (p.Gly1837Val) c.2300G>T (p.Gly767Val) | |
| 5 | g.177293935G>A | CA447961391 | NSD1 | c.5694G>A (p.Gly1898=) c.1209G>A (p.Gly403=) n.6150G>A n.983G>A c.6258G>A (p.Gly2086=) n.5964G>A c.6567G>A (p.Gly2189=) c.5760G>A (p.Gly1920=) c.2061G>A (p.Gly687=) c.6147G>A (p.Gly2049=) c.5511G>A (p.Gly1837=) c.2301G>A (p.Gly767=) | |
| 5 | g.177293935G>C | CA447961393 | NSD1 | c.5694G>C (p.Gly1898=) c.1209G>C (p.Gly403=) n.6150G>C n.983G>C c.6258G>C (p.Gly2086=) n.5964G>C c.6567G>C (p.Gly2189=) c.5760G>C (p.Gly1920=) c.2061G>C (p.Gly687=) c.6147G>C (p.Gly2049=) c.5511G>C (p.Gly1837=) c.2301G>C (p.Gly767=) | gnomAD v4 |
| 5 | g.177293935G>T | CA447961392 | NSD1 | c.5694G>T (p.Gly1898=) c.1209G>T (p.Gly403=) n.6150G>T n.983G>T c.6258G>T (p.Gly2086=) n.5964G>T c.6567G>T (p.Gly2189=) c.5760G>T (p.Gly1920=) c.2061G>T (p.Gly687=) c.6147G>T (p.Gly2049=) c.5511G>T (p.Gly1837=) c.2301G>T (p.Gly767=) | |
| 5 | g.177293936A>C | CA362324017 | NSD1 | c.5695A>C (p.Met1899Leu) c.1210A>C (p.Met404Leu) n.6151A>C n.984A>C c.6259A>C (p.Met2087Leu) n.5965A>C c.6568A>C (p.Met2190Leu) c.5761A>C (p.Met1921Leu) c.2062A>C (p.Met688Leu) c.6148A>C (p.Met2050Leu) c.5512A>C (p.Met1838Leu) c.2302A>C (p.Met768Leu) | |
| 5 | g.177293936A>G | CA362324020 | NSD1 | c.5695A>G (p.Met1899Val) c.1210A>G (p.Met404Val) n.6151A>G n.984A>G c.6259A>G (p.Met2087Val) n.5965A>G c.6568A>G (p.Met2190Val) c.5761A>G (p.Met1921Val) c.2062A>G (p.Met688Val) c.6148A>G (p.Met2050Val) c.5512A>G (p.Met1838Val) c.2302A>G (p.Met768Val) | |
| 5 | g.177293936A>T | CA362324022 | NSD1 | c.5695A>T (p.Met1899Leu) c.1210A>T (p.Met404Leu) n.6151A>T n.984A>T c.6259A>T (p.Met2087Leu) n.5965A>T c.6568A>T (p.Met2190Leu) c.5761A>T (p.Met1921Leu) c.2062A>T (p.Met688Leu) c.6148A>T (p.Met2050Leu) c.5512A>T (p.Met1838Leu) c.2302A>T (p.Met768Leu) | |
| 5 | g.177293937T>A | CA362324028 | NSD1 | c.5696T>A (p.Met1899Lys) c.1211T>A (p.Met404Lys) n.6152T>A n.985T>A c.6260T>A (p.Met2087Lys) n.5966T>A c.6569T>A (p.Met2190Lys) c.5762T>A (p.Met1921Lys) c.2063T>A (p.Met688Lys) c.6149T>A (p.Met2050Lys) c.5513T>A (p.Met1838Lys) c.2303T>A (p.Met768Lys) | |
| 5 | g.177293937T>C | CA362324029 | NSD1 | c.5696T>C (p.Met1899Thr) c.1211T>C (p.Met404Thr) n.6152T>C n.985T>C c.6260T>C (p.Met2087Thr) n.5966T>C c.6569T>C (p.Met2190Thr) c.5762T>C (p.Met1921Thr) c.2063T>C (p.Met688Thr) c.6149T>C (p.Met2050Thr) c.5513T>C (p.Met1838Thr) c.2303T>C (p.Met768Thr) | gnomAD v4 |
| 5 | g.177293937T>G | CA362324032 | NSD1 | c.5696T>G (p.Met1899Arg) c.1211T>G (p.Met404Arg) n.6152T>G n.985T>G c.6260T>G (p.Met2087Arg) n.5966T>G c.6569T>G (p.Met2190Arg) c.5762T>G (p.Met1921Arg) c.2063T>G (p.Met688Arg) c.6149T>G (p.Met2050Arg) c.5513T>G (p.Met1838Arg) c.2303T>G (p.Met768Arg) | |
| 5 | g.177293938G>A | CA362324042 | NSD1 | c.5697G>A (p.Met1899Ile) c.1212G>A (p.Met404Ile) n.6153G>A n.986G>A c.6261G>A (p.Met2087Ile) n.5967G>A c.6570G>A (p.Met2190Ile) c.5763G>A (p.Met1921Ile) c.2064G>A (p.Met688Ile) c.6150G>A (p.Met2050Ile) c.5514G>A (p.Met1838Ile) c.2304G>A (p.Met768Ile) | |
| 5 | g.177293938G>C | CA362324036 | NSD1 | c.5697G>C (p.Met1899Ile) c.1212G>C (p.Met404Ile) n.6153G>C n.986G>C c.6261G>C (p.Met2087Ile) n.5967G>C c.6570G>C (p.Met2190Ile) c.5763G>C (p.Met1921Ile) c.2064G>C (p.Met688Ile) c.6150G>C (p.Met2050Ile) c.5514G>C (p.Met1838Ile) c.2304G>C (p.Met768Ile) | |
| 5 | g.177293938G>T | CA362324038 | NSD1 | c.5697G>T (p.Met1899Ile) c.1212G>T (p.Met404Ile) n.6153G>T n.986G>T c.6261G>T (p.Met2087Ile) n.5967G>T c.6570G>T (p.Met2190Ile) c.5763G>T (p.Met1921Ile) c.2064G>T (p.Met688Ile) c.6150G>T (p.Met2050Ile) c.5514G>T (p.Met1838Ile) c.2304G>T (p.Met768Ile) | dbSNP |
| 5 | g.177293939C>A | CA362324045 | NSD1 | c.5698C>A (p.Leu1900Ile) c.1213C>A (p.Leu405Ile) n.6154C>A n.987C>A c.6262C>A (p.Leu2088Ile) n.5968C>A c.6571C>A (p.Leu2191Ile) c.5764C>A (p.Leu1922Ile) c.2065C>A (p.Leu689Ile) c.6151C>A (p.Leu2051Ile) c.5515C>A (p.Leu1839Ile) c.2305C>A (p.Leu769Ile) | dbSNP |
| 5 | g.177293939C>G | CA362324047 | NSD1 | c.5698C>G (p.Leu1900Val) c.1213C>G (p.Leu405Val) n.6154C>G n.987C>G c.6262C>G (p.Leu2088Val) n.5968C>G c.6571C>G (p.Leu2191Val) c.5764C>G (p.Leu1922Val) c.2065C>G (p.Leu689Val) c.6151C>G (p.Leu2051Val) c.5515C>G (p.Leu1839Val) c.2305C>G (p.Leu769Val) | |
| 5 | g.177293939C>T | CA362324051 | NSD1 | c.5698C>T (p.Leu1900Phe) c.1213C>T (p.Leu405Phe) n.6154C>T n.987C>T c.6262C>T (p.Leu2088Phe) n.5968C>T c.6571C>T (p.Leu2191Phe) c.5764C>T (p.Leu1922Phe) c.2065C>T (p.Leu689Phe) c.6151C>T (p.Leu2051Phe) c.5515C>T (p.Leu1839Phe) c.2305C>T (p.Leu769Phe) | |
| 5 | g.177293939dup | CA2739289829 | NSD1 | c.5698dup (p.Leu1900ProfsTer14) c.1213dup (p.Leu405ProfsTer14) n.6154dup n.987dup c.6262dup (p.Leu2088ProfsTer14) n.5968dup c.6571dup (p.Leu2191ProfsTer14) c.5764dup (p.Leu1922ProfsTer14) c.2065dup (p.Leu689ProfsTer14) c.6151dup (p.Leu2051ProfsTer14) c.5515dup (p.Leu1839ProfsTer14) c.2305dup (p.Leu769ProfsTer14) | |
| 5 | g.177293940T>A | CA362324055 | NSD1 | c.5699T>A (p.Leu1900His) c.1214T>A (p.Leu405His) n.6155T>A n.988T>A c.6263T>A (p.Leu2088His) n.5969T>A c.6572T>A (p.Leu2191His) c.5765T>A (p.Leu1922His) c.2066T>A (p.Leu689His) c.6152T>A (p.Leu2051His) c.5516T>A (p.Leu1839His) c.2306T>A (p.Leu769His) | |
| 5 | g.177293940T>C | CA362324058 | NSD1 | c.5699T>C (p.Leu1900Pro) c.1214T>C (p.Leu405Pro) n.6155T>C n.988T>C c.6263T>C (p.Leu2088Pro) n.5969T>C c.6572T>C (p.Leu2191Pro) c.5765T>C (p.Leu1922Pro) c.2066T>C (p.Leu689Pro) c.6152T>C (p.Leu2051Pro) c.5516T>C (p.Leu1839Pro) c.2306T>C (p.Leu769Pro) | |
| 5 | g.177293940T>G | CA362324059 | NSD1 | c.5699T>G (p.Leu1900Arg) c.1214T>G (p.Leu405Arg) n.6155T>G n.988T>G c.6263T>G (p.Leu2088Arg) n.5969T>G c.6572T>G (p.Leu2191Arg) c.5765T>G (p.Leu1922Arg) c.2066T>G (p.Leu689Arg) c.6152T>G (p.Leu2051Arg) c.5516T>G (p.Leu1839Arg) c.2306T>G (p.Leu769Arg) | |
| 5 | g.177293941T>A | CA447961403 | NSD1 | c.5700T>A (p.Leu1900=) c.1215T>A (p.Leu405=) n.6156T>A n.989T>A c.6264T>A (p.Leu2088=) n.5970T>A c.6573T>A (p.Leu2191=) c.5766T>A (p.Leu1922=) c.2067T>A (p.Leu689=) c.6153T>A (p.Leu2051=) c.5517T>A (p.Leu1839=) c.2307T>A (p.Leu769=) | |
| 5 | g.177293941T>C | CA447961405 | NSD1 | c.5700T>C (p.Leu1900=) c.1215T>C (p.Leu405=) n.6156T>C n.989T>C c.6264T>C (p.Leu2088=) n.5970T>C c.6573T>C (p.Leu2191=) c.5766T>C (p.Leu1922=) c.2067T>C (p.Leu689=) c.6153T>C (p.Leu2051=) c.5517T>C (p.Leu1839=) c.2307T>C (p.Leu769=) | |
| 5 | g.177293941T>G | CA447961406 | NSD1 | c.5700T>G (p.Leu1900=) c.1215T>G (p.Leu405=) n.6156T>G n.989T>G c.6264T>G (p.Leu2088=) n.5970T>G c.6573T>G (p.Leu2191=) c.5766T>G (p.Leu1922=) c.2067T>G (p.Leu689=) c.6153T>G (p.Leu2051=) c.5517T>G (p.Leu1839=) c.2307T>G (p.Leu769=) | |
| 5 | g.177293942T>A | CA362324064 | NSD1 | c.5701T>A (p.Phe1901Ile) c.1216T>A (p.Phe406Ile) n.6157T>A n.990T>A c.6265T>A (p.Phe2089Ile) n.5971T>A c.6574T>A (p.Phe2192Ile) c.5767T>A (p.Phe1923Ile) c.2068T>A (p.Phe690Ile) c.6154T>A (p.Phe2052Ile) c.5518T>A (p.Phe1840Ile) c.2308T>A (p.Phe770Ile) | |
| 5 | g.177293942T>C | CA362324067 | NSD1 | c.5701T>C (p.Phe1901Leu) c.1216T>C (p.Phe406Leu) n.6157T>C n.990T>C c.6265T>C (p.Phe2089Leu) n.5971T>C c.6574T>C (p.Phe2192Leu) c.5767T>C (p.Phe1923Leu) c.2068T>C (p.Phe690Leu) c.6154T>C (p.Phe2052Leu) c.5518T>C (p.Phe1840Leu) c.2308T>C (p.Phe770Leu) | |
| 5 | g.177293942T>G | CA362324070 | NSD1 | c.5701T>G (p.Phe1901Val) c.1216T>G (p.Phe406Val) n.6157T>G n.990T>G c.6265T>G (p.Phe2089Val) n.5971T>G c.6574T>G (p.Phe2192Val) c.5767T>G (p.Phe1923Val) c.2068T>G (p.Phe690Val) c.6154T>G (p.Phe2052Val) c.5518T>G (p.Phe1840Val) c.2308T>G (p.Phe770Val) | |
| 5 | g.177293943T>A | CA362324075 | NSD1 | c.5702T>A (p.Phe1901Tyr) c.1217T>A (p.Phe406Tyr) n.6158T>A n.991T>A c.6266T>A (p.Phe2089Tyr) n.5972T>A c.6575T>A (p.Phe2192Tyr) c.5768T>A (p.Phe1923Tyr) c.2069T>A (p.Phe690Tyr) c.6155T>A (p.Phe2052Tyr) c.5519T>A (p.Phe1840Tyr) c.2309T>A (p.Phe770Tyr) | |
| 5 | g.177293943T>C | CA362324080 | NSD1 | c.5702T>C (p.Phe1901Ser) c.1217T>C (p.Phe406Ser) n.6158T>C n.991T>C c.6266T>C (p.Phe2089Ser) n.5972T>C c.6575T>C (p.Phe2192Ser) c.5768T>C (p.Phe1923Ser) c.2069T>C (p.Phe690Ser) c.6155T>C (p.Phe2052Ser) c.5519T>C (p.Phe1840Ser) c.2309T>C (p.Phe770Ser) | |
| 5 | g.177293943T>G | CA362324083 | NSD1 | c.5702T>G (p.Phe1901Cys) c.1217T>G (p.Phe406Cys) n.6158T>G n.991T>G c.6266T>G (p.Phe2089Cys) n.5972T>G c.6575T>G (p.Phe2192Cys) c.5768T>G (p.Phe1923Cys) c.2069T>G (p.Phe690Cys) c.6155T>G (p.Phe2052Cys) c.5519T>G (p.Phe1840Cys) c.2309T>G (p.Phe770Cys) | |
| 5 | g.177293944C>A | CA362324086 | NSD1 | c.5703C>A (p.Phe1901Leu) c.1218C>A (p.Phe406Leu) n.6159C>A n.992C>A c.6267C>A (p.Phe2089Leu) n.5973C>A c.6576C>A (p.Phe2192Leu) c.5769C>A (p.Phe1923Leu) c.2070C>A (p.Phe690Leu) c.6156C>A (p.Phe2052Leu) c.5520C>A (p.Phe1840Leu) c.2310C>A (p.Phe770Leu) | |
| 5 | g.177293944C= | CA1603535515 | NSD1 | c.5703C= (p.Phe1901=) c.1218C= (p.Phe406=) n.6159C= n.992C= c.6267C= (p.Phe2089=) n.5973C= c.6576C= (p.Phe2192=) c.5769C= (p.Phe1923=) c.2070C= (p.Phe690=) c.6156C= (p.Phe2052=) c.5520C= (p.Phe1840=) c.2310C= (p.Phe770=) | |
| 5 | g.177293944C>G | CA362324089 | NSD1 | c.5703C>G (p.Phe1901Leu) c.1218C>G (p.Phe406Leu) n.6159C>G n.992C>G c.6267C>G (p.Phe2089Leu) n.5973C>G c.6576C>G (p.Phe2192Leu) c.5769C>G (p.Phe1923Leu) c.2070C>G (p.Phe690Leu) c.6156C>G (p.Phe2052Leu) c.5520C>G (p.Phe1840Leu) c.2310C>G (p.Phe770Leu) | |
| 5 | g.177293944C>T | CA447961412 | NSD1 | c.5703C>T (p.Phe1901=) c.1218C>T (p.Phe406=) n.6159C>T n.992C>T c.6267C>T (p.Phe2089=) n.5973C>T c.6576C>T (p.Phe2192=) c.5769C>T (p.Phe1923=) c.2070C>T (p.Phe690=) c.6156C>T (p.Phe2052=) c.5520C>T (p.Phe1840=) c.2310C>T (p.Phe770=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.177293945A>C | CA362324093 | NSD1 | c.5704A>C (p.Ile1902Leu) c.1219A>C (p.Ile407Leu) n.6160A>C n.993A>C c.6268A>C (p.Ile2090Leu) n.5974A>C c.6577A>C (p.Ile2193Leu) c.5770A>C (p.Ile1924Leu) c.2071A>C (p.Ile691Leu) c.6157A>C (p.Ile2053Leu) c.5521A>C (p.Ile1841Leu) c.2311A>C (p.Ile771Leu) | |
| 5 | g.177293945A>G | CA362324095 | NSD1 | c.5704A>G (p.Ile1902Val) c.1219A>G (p.Ile407Val) n.6160A>G n.993A>G c.6268A>G (p.Ile2090Val) n.5974A>G c.6577A>G (p.Ile2193Val) c.5770A>G (p.Ile1924Val) c.2071A>G (p.Ile691Val) c.6157A>G (p.Ile2053Val) c.5521A>G (p.Ile1841Val) c.2311A>G (p.Ile771Val) | |
| 5 | g.177293945A>T | CA362324099 | NSD1 | c.5704A>T (p.Ile1902Phe) c.1219A>T (p.Ile407Phe) n.6160A>T n.993A>T c.6268A>T (p.Ile2090Phe) n.5974A>T c.6577A>T (p.Ile2193Phe) c.5770A>T (p.Ile1924Phe) c.2071A>T (p.Ile691Phe) c.6157A>T (p.Ile2053Phe) c.5521A>T (p.Ile1841Phe) c.2311A>T (p.Ile771Phe) | |
| 5 | g.177293946T>A | CA362324103 | NSD1 | c.5705T>A (p.Ile1902Asn) c.1220T>A (p.Ile407Asn) n.6161T>A n.994T>A c.6269T>A (p.Ile2090Asn) n.5975T>A c.6578T>A (p.Ile2193Asn) c.5771T>A (p.Ile1924Asn) c.2072T>A (p.Ile691Asn) c.6158T>A (p.Ile2053Asn) c.5522T>A (p.Ile1841Asn) c.2312T>A (p.Ile771Asn) | |
| 5 | g.177293946T>C | CA362324106 | NSD1 | c.5705T>C (p.Ile1902Thr) c.1220T>C (p.Ile407Thr) n.6161T>C n.994T>C c.6269T>C (p.Ile2090Thr) n.5975T>C c.6578T>C (p.Ile2193Thr) c.5771T>C (p.Ile1924Thr) c.2072T>C (p.Ile691Thr) c.6158T>C (p.Ile2053Thr) c.5522T>C (p.Ile1841Thr) c.2312T>C (p.Ile771Thr) | |
| 5 | g.177293946T>G | CA362324109 | NSD1 | c.5705T>G (p.Ile1902Ser) c.1220T>G (p.Ile407Ser) n.6161T>G n.994T>G c.6269T>G (p.Ile2090Ser) n.5975T>G c.6578T>G (p.Ile2193Ser) c.5771T>G (p.Ile1924Ser) c.2072T>G (p.Ile691Ser) c.6158T>G (p.Ile2053Ser) c.5522T>G (p.Ile1841Ser) c.2312T>G (p.Ile771Ser) | |
| 5 | g.177293947T>A | CA447961416 | NSD1 | c.5706T>A (p.Ile1902=) c.1221T>A (p.Ile407=) n.6162T>A n.995T>A c.6270T>A (p.Ile2090=) n.5976T>A c.6579T>A (p.Ile2193=) c.5772T>A (p.Ile1924=) c.2073T>A (p.Ile691=) c.6159T>A (p.Ile2053=) c.5523T>A (p.Ile1841=) c.2313T>A (p.Ile771=) | |
| 5 | g.177293947T>C | CA447961418 | NSD1 | c.5706T>C (p.Ile1902=) c.1221T>C (p.Ile407=) n.6162T>C n.995T>C c.6270T>C (p.Ile2090=) n.5976T>C c.6579T>C (p.Ile2193=) c.5772T>C (p.Ile1924=) c.2073T>C (p.Ile691=) c.6159T>C (p.Ile2053=) c.5523T>C (p.Ile1841=) c.2313T>C (p.Ile771=) | |
| 5 | g.177293947T>G | CA362324113 | NSD1 | c.5706T>G (p.Ile1902Met) c.1221T>G (p.Ile407Met) n.6162T>G n.995T>G c.6270T>G (p.Ile2090Met) n.5976T>G c.6579T>G (p.Ile2193Met) c.5772T>G (p.Ile1924Met) c.2073T>G (p.Ile691Met) c.6159T>G (p.Ile2053Met) c.5523T>G (p.Ile1841Met) c.2313T>G (p.Ile771Met) | |
| 5 | g.177293948T>A | CA362324117 | NSD1 | c.5707T>A (p.Ser1903Thr) c.1222T>A (p.Ser408Thr) n.6163T>A n.996T>A c.6271T>A (p.Ser2091Thr) n.5977T>A c.6580T>A (p.Ser2194Thr) c.5773T>A (p.Ser1925Thr) c.2074T>A (p.Ser692Thr) c.6160T>A (p.Ser2054Thr) c.5524T>A (p.Ser1842Thr) c.2314T>A (p.Ser772Thr) | |
| 5 | g.177293948T>C | CA362324119 | NSD1 | c.5707T>C (p.Ser1903Pro) c.1222T>C (p.Ser408Pro) n.6163T>C n.996T>C c.6271T>C (p.Ser2091Pro) n.5977T>C c.6580T>C (p.Ser2194Pro) c.5773T>C (p.Ser1925Pro) c.2074T>C (p.Ser692Pro) c.6160T>C (p.Ser2054Pro) c.5524T>C (p.Ser1842Pro) c.2314T>C (p.Ser772Pro) | |
| 5 | g.177293948T>G | CA362324123 | NSD1 | c.5707T>G (p.Ser1903Ala) c.1222T>G (p.Ser408Ala) n.6163T>G n.996T>G c.6271T>G (p.Ser2091Ala) n.5977T>G c.6580T>G (p.Ser2194Ala) c.5773T>G (p.Ser1925Ala) c.2074T>G (p.Ser692Ala) c.6160T>G (p.Ser2054Ala) c.5524T>G (p.Ser1842Ala) c.2314T>G (p.Ser772Ala) | |
| 5 | g.177293949C>A | CA362324126 | NSD1 | c.5708C>A (p.Ser1903Tyr) c.1223C>A (p.Ser408Tyr) n.6164C>A n.997C>A c.6272C>A (p.Ser2091Tyr) n.5978C>A c.6581C>A (p.Ser2194Tyr) c.5774C>A (p.Ser1925Tyr) c.2075C>A (p.Ser692Tyr) c.6161C>A (p.Ser2054Tyr) c.5525C>A (p.Ser1842Tyr) c.2315C>A (p.Ser772Tyr) | |
| 5 | g.177293949C>G | CA362324127 | NSD1 | c.5708C>G (p.Ser1903Cys) c.1223C>G (p.Ser408Cys) n.6164C>G n.997C>G c.6272C>G (p.Ser2091Cys) n.5978C>G c.6581C>G (p.Ser2194Cys) c.5774C>G (p.Ser1925Cys) c.2075C>G (p.Ser692Cys) c.6161C>G (p.Ser2054Cys) c.5525C>G (p.Ser1842Cys) c.2315C>G (p.Ser772Cys) | |
| 5 | g.177293949C>T | CA362324130 | NSD1 | c.5708C>T (p.Ser1903Phe) c.1223C>T (p.Ser408Phe) n.6164C>T n.997C>T c.6272C>T (p.Ser2091Phe) n.5978C>T c.6581C>T (p.Ser2194Phe) c.5774C>T (p.Ser1925Phe) c.2075C>T (p.Ser692Phe) c.6161C>T (p.Ser2054Phe) c.5525C>T (p.Ser1842Phe) c.2315C>T (p.Ser772Phe) | dbSNP gnomAD v4 |
| 5 | g.177293950C>A | CA447961424 | NSD1 | c.5709C>A (p.Ser1903=) c.1224C>A (p.Ser408=) n.6165C>A n.998C>A c.6273C>A (p.Ser2091=) n.5979C>A c.6582C>A (p.Ser2194=) c.5775C>A (p.Ser1925=) c.2076C>A (p.Ser692=) c.6162C>A (p.Ser2054=) c.5526C>A (p.Ser1842=) c.2316C>A (p.Ser772=) | |
| 5 | g.177293950C>G | CA447961425 | NSD1 | c.5709C>G (p.Ser1903=) c.1224C>G (p.Ser408=) n.6165C>G n.998C>G c.6273C>G (p.Ser2091=) n.5979C>G c.6582C>G (p.Ser2194=) c.5775C>G (p.Ser1925=) c.2076C>G (p.Ser692=) c.6162C>G (p.Ser2054=) c.5526C>G (p.Ser1842=) c.2316C>G (p.Ser772=) | |
| 5 | g.177293950C>T | CA447961426 | NSD1 | c.5709C>T (p.Ser1903=) c.1224C>T (p.Ser408=) n.6165C>T n.998C>T c.6273C>T (p.Ser2091=) n.5979C>T c.6582C>T (p.Ser2194=) c.5775C>T (p.Ser1925=) c.2076C>T (p.Ser692=) c.6162C>T (p.Ser2054=) c.5526C>T (p.Ser1842=) c.2316C>T (p.Ser772=) | |
| 5 | g.177293951A>C | CA362324139 | NSD1 | c.5710A>C (p.Lys1904Gln) c.1225A>C (p.Lys409Gln) n.6166A>C n.999A>C c.6274A>C (p.Lys2092Gln) n.5980A>C c.6583A>C (p.Lys2195Gln) c.5776A>C (p.Lys1926Gln) c.2077A>C (p.Lys693Gln) c.6163A>C (p.Lys2055Gln) c.5527A>C (p.Lys1843Gln) c.2317A>C (p.Lys773Gln) | |
| 5 | g.177293951A>G | CA362324135 | NSD1 | c.5710A>G (p.Lys1904Glu) c.1225A>G (p.Lys409Glu) n.6166A>G n.999A>G c.6274A>G (p.Lys2092Glu) n.5980A>G c.6583A>G (p.Lys2195Glu) c.5776A>G (p.Lys1926Glu) c.2077A>G (p.Lys693Glu) c.6163A>G (p.Lys2055Glu) c.5527A>G (p.Lys1843Glu) c.2317A>G (p.Lys773Glu) | |
| 5 | g.177293951A>T | CA362324137 | NSD1 | c.5710A>T (p.Lys1904Ter) c.1225A>T (p.Lys409Ter) n.6166A>T n.999A>T c.6274A>T (p.Lys2092Ter) n.5980A>T c.6583A>T (p.Lys2195Ter) c.5776A>T (p.Lys1926Ter) c.2077A>T (p.Lys693Ter) c.6163A>T (p.Lys2055Ter) c.5527A>T (p.Lys1843Ter) c.2317A>T (p.Lys773Ter) | |
| 5 | g.177293952A>C | CA362324143 | NSD1 | c.5711A>C (p.Lys1904Thr) c.1226A>C (p.Lys409Thr) n.6167A>C n.1000A>C c.6275A>C (p.Lys2092Thr) n.5981A>C c.6584A>C (p.Lys2195Thr) c.5777A>C (p.Lys1926Thr) c.2078A>C (p.Lys693Thr) c.6164A>C (p.Lys2055Thr) c.5528A>C (p.Lys1843Thr) c.2318A>C (p.Lys773Thr) | |
| 5 | g.177293952A>G | CA362324145 | NSD1 | c.5711A>G (p.Lys1904Arg) c.1226A>G (p.Lys409Arg) n.6167A>G n.1000A>G c.6275A>G (p.Lys2092Arg) n.5981A>G c.6584A>G (p.Lys2195Arg) c.5777A>G (p.Lys1926Arg) c.2078A>G (p.Lys693Arg) c.6164A>G (p.Lys2055Arg) c.5528A>G (p.Lys1843Arg) c.2318A>G (p.Lys773Arg) | |
| 5 | g.177293952A>T | CA362324148 | NSD1 | c.5711A>T (p.Lys1904Ile) c.1226A>T (p.Lys409Ile) n.6167A>T n.1000A>T c.6275A>T (p.Lys2092Ile) n.5981A>T c.6584A>T (p.Lys2195Ile) c.5777A>T (p.Lys1926Ile) c.2078A>T (p.Lys693Ile) c.6164A>T (p.Lys2055Ile) c.5528A>T (p.Lys1843Ile) c.2318A>T (p.Lys773Ile) | |
| 5 | g.177293953A>C | CA362324152 | NSD1 | c.5712A>C (p.Lys1904Asn) c.1227A>C (p.Lys409Asn) n.6168A>C n.1001A>C c.6276A>C (p.Lys2092Asn) n.5982A>C c.6585A>C (p.Lys2195Asn) c.5778A>C (p.Lys1926Asn) c.2079A>C (p.Lys693Asn) c.6165A>C (p.Lys2055Asn) c.5529A>C (p.Lys1843Asn) c.2319A>C (p.Lys773Asn) | |
| 5 | g.177293953A>G | CA447961432 | NSD1 | c.5712A>G (p.Lys1904=) c.1227A>G (p.Lys409=) n.6168A>G n.1001A>G c.6276A>G (p.Lys2092=) n.5982A>G c.6585A>G (p.Lys2195=) c.5778A>G (p.Lys1926=) c.2079A>G (p.Lys693=) c.6165A>G (p.Lys2055=) c.5529A>G (p.Lys1843=) c.2319A>G (p.Lys773=) | gnomAD v4 |
| 5 | g.177293953A>T | CA362324155 | NSD1 | c.5712A>T (p.Lys1904Asn) c.1227A>T (p.Lys409Asn) n.6168A>T n.1001A>T c.6276A>T (p.Lys2092Asn) n.5982A>T c.6585A>T (p.Lys2195Asn) c.5778A>T (p.Lys1926Asn) c.2079A>T (p.Lys693Asn) c.6165A>T (p.Lys2055Asn) c.5529A>T (p.Lys1843Asn) c.2319A>T (p.Lys773Asn) | |
| 5 | g.177293954C>A | CA362324158 | NSD1 | c.5713C>A (p.Leu1905Met) c.1228C>A (p.Leu410Met) n.6169C>A n.1002C>A c.6277C>A (p.Leu2093Met) n.5983C>A c.6586C>A (p.Leu2196Met) c.5779C>A (p.Leu1927Met) c.2080C>A (p.Leu694Met) c.6166C>A (p.Leu2056Met) c.5530C>A (p.Leu1844Met) c.2320C>A (p.Leu774Met) | |
| 5 | g.177293954C>G | CA362324160 | NSD1 | c.5713C>G (p.Leu1905Val) c.1228C>G (p.Leu410Val) n.6169C>G n.1002C>G c.6277C>G (p.Leu2093Val) n.5983C>G c.6586C>G (p.Leu2196Val) c.5779C>G (p.Leu1927Val) c.2080C>G (p.Leu694Val) c.6166C>G (p.Leu2056Val) c.5530C>G (p.Leu1844Val) c.2320C>G (p.Leu774Val) | |
| 5 | g.177293954C>T | CA447961434 | NSD1 | c.5713C>T (p.Leu1905=) c.1228C>T (p.Leu410=) n.6169C>T n.1002C>T c.6277C>T (p.Leu2093=) n.5983C>T c.6586C>T (p.Leu2196=) c.5779C>T (p.Leu1927=) c.2080C>T (p.Leu694=) c.6166C>T (p.Leu2056=) c.5530C>T (p.Leu1844=) c.2320C>T (p.Leu774=) | dbSNP |
| 5 | g.177293955T>A | CA362324165 | NSD1 | c.5714T>A (p.Leu1905Gln) c.1229T>A (p.Leu410Gln) n.6170T>A n.1003T>A c.6278T>A (p.Leu2093Gln) n.5984T>A c.6587T>A (p.Leu2196Gln) c.5780T>A (p.Leu1927Gln) c.2081T>A (p.Leu694Gln) c.6167T>A (p.Leu2056Gln) c.5531T>A (p.Leu1844Gln) c.2321T>A (p.Leu774Gln) | |
| 5 | g.177293955T>C | CA362324167 | NSD1 | c.5714T>C (p.Leu1905Pro) c.1229T>C (p.Leu410Pro) n.6170T>C n.1003T>C c.6278T>C (p.Leu2093Pro) n.5984T>C c.6587T>C (p.Leu2196Pro) c.5780T>C (p.Leu1927Pro) c.2081T>C (p.Leu694Pro) c.6167T>C (p.Leu2056Pro) c.5531T>C (p.Leu1844Pro) c.2321T>C (p.Leu774Pro) | |
| 5 | g.177293955T>G | CA362324168 | NSD1 | c.5714T>G (p.Leu1905Arg) c.1229T>G (p.Leu410Arg) n.6170T>G n.1003T>G c.6278T>G (p.Leu2093Arg) n.5984T>G c.6587T>G (p.Leu2196Arg) c.5780T>G (p.Leu1927Arg) c.2081T>G (p.Leu694Arg) c.6167T>G (p.Leu2056Arg) c.5531T>G (p.Leu1844Arg) c.2321T>G (p.Leu774Arg) | |
| 5 | g.177293956G>A | CA447961439 | NSD1 | c.5715G>A (p.Leu1905=) c.1230G>A (p.Leu410=) n.6171G>A n.1004G>A c.6279G>A (p.Leu2093=) n.5985G>A c.6588G>A (p.Leu2196=) c.5781G>A (p.Leu1927=) c.2082G>A (p.Leu694=) c.6168G>A (p.Leu2056=) c.5532G>A (p.Leu1844=) c.2322G>A (p.Leu774=) | |
| 5 | g.177293956G>C | CA447961436 | NSD1 | c.5715G>C (p.Leu1905=) c.1230G>C (p.Leu410=) n.6171G>C n.1004G>C c.6279G>C (p.Leu2093=) n.5985G>C c.6588G>C (p.Leu2196=) c.5781G>C (p.Leu1927=) c.2082G>C (p.Leu694=) c.6168G>C (p.Leu2056=) c.5532G>C (p.Leu1844=) c.2322G>C (p.Leu774=) | |
| 5 | g.177293956G>T | CA447961437 | NSD1 | c.5715G>T (p.Leu1905=) c.1230G>T (p.Leu410=) n.6171G>T n.1004G>T c.6279G>T (p.Leu2093=) n.5985G>T c.6588G>T (p.Leu2196=) c.5781G>T (p.Leu1927=) c.2082G>T (p.Leu694=) c.6168G>T (p.Leu2056=) c.5532G>T (p.Leu1844=) c.2322G>T (p.Leu774=) | |
| 5 | g.177293957G>A | CA362324173 | NSD1 | c.5716G>A (p.Asp1906Asn) c.1231G>A (p.Asp411Asn) n.6172G>A n.1005G>A c.6280G>A (p.Asp2094Asn) n.5986G>A c.6589G>A (p.Asp2197Asn) c.5782G>A (p.Asp1928Asn) c.2083G>A (p.Asp695Asn) c.6169G>A (p.Asp2057Asn) c.5533G>A (p.Asp1845Asn) c.2323G>A (p.Asp775Asn) | |
| 5 | g.177293957G>C | CA362324175 | NSD1 | c.5716G>C (p.Asp1906His) c.1231G>C (p.Asp411His) n.6172G>C n.1005G>C c.6280G>C (p.Asp2094His) n.5986G>C c.6589G>C (p.Asp2197His) c.5782G>C (p.Asp1928His) c.2083G>C (p.Asp695His) c.6169G>C (p.Asp2057His) c.5533G>C (p.Asp1845His) c.2323G>C (p.Asp775His) | dbSNP |
| 5 | g.177293957G= | CA1603535518 | NSD1 | c.5716G= (p.Asp1906=) c.1231G= (p.Asp411=) n.6172G= n.1005G= c.6280G= (p.Asp2094=) n.5986G= c.6589G= (p.Asp2197=) c.5782G= (p.Asp1928=) c.2083G= (p.Asp695=) c.6169G= (p.Asp2057=) c.5533G= (p.Asp1845=) c.2323G= (p.Asp775=) | |
| 5 | g.177293957G>T | CA362324178 | NSD1 | c.5716G>T (p.Asp1906Tyr) c.1231G>T (p.Asp411Tyr) n.6172G>T n.1005G>T c.6280G>T (p.Asp2094Tyr) n.5986G>T c.6589G>T (p.Asp2197Tyr) c.5782G>T (p.Asp1928Tyr) c.2083G>T (p.Asp695Tyr) c.6169G>T (p.Asp2057Tyr) c.5533G>T (p.Asp1845Tyr) c.2323G>T (p.Asp775Tyr) | |
| 5 | g.177293958A>C | CA362324182 | NSD1 | c.5717A>C (p.Asp1906Ala) c.1232A>C (p.Asp411Ala) n.6173A>C n.1006A>C c.6281A>C (p.Asp2094Ala) n.5987A>C c.6590A>C (p.Asp2197Ala) c.5783A>C (p.Asp1928Ala) c.2084A>C (p.Asp695Ala) c.6170A>C (p.Asp2057Ala) c.5534A>C (p.Asp1845Ala) c.2324A>C (p.Asp775Ala) | |
| 5 | g.177293958A>G | CA362324187 | NSD1 | c.5717A>G (p.Asp1906Gly) c.1232A>G (p.Asp411Gly) n.6173A>G n.1006A>G c.6281A>G (p.Asp2094Gly) n.5987A>G c.6590A>G (p.Asp2197Gly) c.5783A>G (p.Asp1928Gly) c.2084A>G (p.Asp695Gly) c.6170A>G (p.Asp2057Gly) c.5534A>G (p.Asp1845Gly) c.2324A>G (p.Asp775Gly) | |
| 5 | g.177293958A>T | CA362324181 | NSD1 | c.5717A>T (p.Asp1906Val) c.1232A>T (p.Asp411Val) n.6173A>T n.1006A>T c.6281A>T (p.Asp2094Val) n.5987A>T c.6590A>T (p.Asp2197Val) c.5783A>T (p.Asp1928Val) c.2084A>T (p.Asp695Val) c.6170A>T (p.Asp2057Val) c.5534A>T (p.Asp1845Val) c.2324A>T (p.Asp775Val) | gnomAD v4 |
| 5 | g.177293959T>A | CA362324192 | NSD1 | c.5718T>A (p.Asp1906Glu) c.1233T>A (p.Asp411Glu) n.6174T>A n.1007T>A c.6282T>A (p.Asp2094Glu) n.5988T>A c.6591T>A (p.Asp2197Glu) c.5784T>A (p.Asp1928Glu) c.2085T>A (p.Asp695Glu) c.6171T>A (p.Asp2057Glu) c.5535T>A (p.Asp1845Glu) c.2325T>A (p.Asp775Glu) | |
| 5 | g.177293959T>C | CA447961447 | NSD1 | c.5718T>C (p.Asp1906=) c.1233T>C (p.Asp411=) n.6174T>C n.1007T>C c.6282T>C (p.Asp2094=) n.5988T>C c.6591T>C (p.Asp2197=) c.5784T>C (p.Asp1928=) c.2085T>C (p.Asp695=) c.6171T>C (p.Asp2057=) c.5535T>C (p.Asp1845=) c.2325T>C (p.Asp775=) | dbSNP |
| 5 | g.177293959T>G | CA362324190 | NSD1 | c.5718T>G (p.Asp1906Glu) c.1233T>G (p.Asp411Glu) n.6174T>G n.1007T>G c.6282T>G (p.Asp2094Glu) n.5988T>G c.6591T>G (p.Asp2197Glu) c.5784T>G (p.Asp1928Glu) c.2085T>G (p.Asp695Glu) c.6171T>G (p.Asp2057Glu) c.5535T>G (p.Asp1845Glu) c.2325T>G (p.Asp775Glu) | |
| 5 | g.177293960G>A | CA362324195 | NSD1 | c.5719G>A (p.Gly1907Arg) c.1234G>A (p.Gly412Arg) n.6175G>A n.1008G>A c.6283G>A (p.Gly2095Arg) n.5989G>A c.6592G>A (p.Gly2198Arg) c.5785G>A (p.Gly1929Arg) c.2086G>A (p.Gly696Arg) c.6172G>A (p.Gly2058Arg) c.5536G>A (p.Gly1846Arg) c.2326G>A (p.Gly776Arg) | |
| 5 | g.177293960G>C | CA362324197 | NSD1 | c.5719G>C (p.Gly1907Arg) c.1234G>C (p.Gly412Arg) n.6175G>C n.1008G>C c.6283G>C (p.Gly2095Arg) n.5989G>C c.6592G>C (p.Gly2198Arg) c.5785G>C (p.Gly1929Arg) c.2086G>C (p.Gly696Arg) c.6172G>C (p.Gly2058Arg) c.5536G>C (p.Gly1846Arg) c.2326G>C (p.Gly776Arg) | |
| 5 | g.177293960G>T | CA362324208 | NSD1 | c.5719G>T (p.Gly1907Trp) c.1234G>T (p.Gly412Trp) n.6175G>T n.1008G>T c.6283G>T (p.Gly2095Trp) n.5989G>T c.6592G>T (p.Gly2198Trp) c.5785G>T (p.Gly1929Trp) c.2086G>T (p.Gly696Trp) c.6172G>T (p.Gly2058Trp) c.5536G>T (p.Gly1846Trp) c.2326G>T (p.Gly776Trp) | |
| 5 | g.177293961G>A | CA362324211 | NSD1 | c.5720G>A (p.Gly1907Glu) c.1235G>A (p.Gly412Glu) n.6176G>A n.1009G>A c.6284G>A (p.Gly2095Glu) n.5990G>A c.6593G>A (p.Gly2198Glu) c.5786G>A (p.Gly1929Glu) c.2087G>A (p.Gly696Glu) c.6173G>A (p.Gly2058Glu) c.5537G>A (p.Gly1846Glu) c.2327G>A (p.Gly776Glu) | |
| 5 | g.177293961G>C | CA362324213 | NSD1 | c.5720G>C (p.Gly1907Ala) c.1235G>C (p.Gly412Ala) n.6176G>C n.1009G>C c.6284G>C (p.Gly2095Ala) n.5990G>C c.6593G>C (p.Gly2198Ala) c.5786G>C (p.Gly1929Ala) c.2087G>C (p.Gly696Ala) c.6173G>C (p.Gly2058Ala) c.5537G>C (p.Gly1846Ala) c.2327G>C (p.Gly776Ala) | |
| 5 | g.177293961G>T | CA362324216 | NSD1 | c.5720G>T (p.Gly1907Val) c.1235G>T (p.Gly412Val) n.6176G>T n.1009G>T c.6284G>T (p.Gly2095Val) n.5990G>T c.6593G>T (p.Gly2198Val) c.5786G>T (p.Gly1929Val) c.2087G>T (p.Gly696Val) c.6173G>T (p.Gly2058Val) c.5537G>T (p.Gly1846Val) c.2327G>T (p.Gly776Val) | |
| 5 | g.177293962G>A | CA447961456 | NSD1 | c.5721G>A (p.Gly1907=) c.1236G>A (p.Gly412=) n.6177G>A n.1010G>A c.6285G>A (p.Gly2095=) n.5991G>A c.6594G>A (p.Gly2198=) c.5787G>A (p.Gly1929=) c.2088G>A (p.Gly696=) c.6174G>A (p.Gly2058=) c.5538G>A (p.Gly1846=) c.2328G>A (p.Gly776=) | |
| 5 | g.177293962G>C | CA447961458 | NSD1 | c.5721G>C (p.Gly1907=) c.1236G>C (p.Gly412=) n.6177G>C n.1010G>C c.6285G>C (p.Gly2095=) n.5991G>C c.6594G>C (p.Gly2198=) c.5787G>C (p.Gly1929=) c.2088G>C (p.Gly696=) c.6174G>C (p.Gly2058=) c.5538G>C (p.Gly1846=) c.2328G>C (p.Gly776=) | |
| 5 | g.177293962G>T | CA447961457 | NSD1 | c.5721G>T (p.Gly1907=) c.1236G>T (p.Gly412=) n.6177G>T n.1010G>T c.6285G>T (p.Gly2095=) n.5991G>T c.6594G>T (p.Gly2198=) c.5787G>T (p.Gly1929=) c.2088G>T (p.Gly696=) c.6174G>T (p.Gly2058=) c.5538G>T (p.Gly1846=) c.2328G>T (p.Gly776=) | gnomAD v4 |
| 5 | g.177293963C>A | CA362324223 | NSD1 | c.5722C>A (p.Arg1908Ser) c.1237C>A (p.Arg413Ser) n.6178C>A n.1011C>A c.6286C>A (p.Arg2096Ser) n.5992C>A c.6595C>A (p.Arg2199Ser) c.5788C>A (p.Arg1930Ser) c.2089C>A (p.Arg697Ser) c.6175C>A (p.Arg2059Ser) c.5539C>A (p.Arg1847Ser) c.2329C>A (p.Arg777Ser) | |
| 5 | g.177293963C= | CA1603535525 | NSD1 | c.5722C= (p.Arg1908=) c.1237C= (p.Arg413=) n.6178C= n.1011C= c.6286C= (p.Arg2096=) n.5992C= c.6595C= (p.Arg2199=) c.5788C= (p.Arg1930=) c.2089C= (p.Arg697=) c.6175C= (p.Arg2059=) c.5539C= (p.Arg1847=) c.2329C= (p.Arg777=) | |
| 5 | g.177293963C>G | CA362324219 | NSD1 | c.5722C>G (p.Arg1908Gly) c.1237C>G (p.Arg413Gly) n.6178C>G n.1011C>G c.6286C>G (p.Arg2096Gly) n.5992C>G c.6595C>G (p.Arg2199Gly) c.5788C>G (p.Arg1930Gly) c.2089C>G (p.Arg697Gly) c.6175C>G (p.Arg2059Gly) c.5539C>G (p.Arg1847Gly) c.2329C>G (p.Arg777Gly) | |
| 5 | g.177293963C>T | CA362324221 | NSD1 | c.5722C>T (p.Arg1908Cys) c.1237C>T (p.Arg413Cys) n.6178C>T n.1011C>T c.6286C>T (p.Arg2096Cys) n.5992C>T c.6595C>T (p.Arg2199Cys) c.5788C>T (p.Arg1930Cys) c.2089C>T (p.Arg697Cys) c.6175C>T (p.Arg2059Cys) c.5539C>T (p.Arg1847Cys) c.2329C>T (p.Arg777Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.177293964del | CA2695205753 | NSD1 | c.5723del (p.Arg1908LeufsTer?) c.1238del (p.Arg413LeufsTer?) n.6179del n.1012del c.6287del (p.Arg2096LeufsTer?) n.5993del c.6596del (p.Arg2199LeufsTer?) c.5789del (p.Arg1930LeufsTer?) c.2090del (p.Arg697LeufsTer?) c.6176del (p.Arg2059LeufsTer?) c.5540del (p.Arg1847LeufsTer?) c.2330del (p.Arg777LeufsTer?) | |
| 5 | g.177293964G>A | CA132862454 | NSD1 | c.5723G>A (p.Arg1908His) c.1238G>A (p.Arg413His) n.6179G>A n.1012G>A c.6287G>A (p.Arg2096His) n.5993G>A c.6596G>A (p.Arg2199His) c.5789G>A (p.Arg1930His) c.2090G>A (p.Arg697His) c.6176G>A (p.Arg2059His) c.5540G>A (p.Arg1847His) c.2330G>A (p.Arg777His) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.177293964G>C | CA362324229 | NSD1 | c.5723G>C (p.Arg1908Pro) c.1238G>C (p.Arg413Pro) n.6179G>C n.1012G>C c.6287G>C (p.Arg2096Pro) n.5993G>C c.6596G>C (p.Arg2199Pro) c.5789G>C (p.Arg1930Pro) c.2090G>C (p.Arg697Pro) c.6176G>C (p.Arg2059Pro) c.5540G>C (p.Arg1847Pro) c.2330G>C (p.Arg777Pro) | |
| 5 | g.177293964G= | CA1603535529 | NSD1 | c.5723G= (p.Arg1908=) c.1238G= (p.Arg413=) n.6179G= n.1012G= c.6287G= (p.Arg2096=) n.5993G= c.6596G= (p.Arg2199=) c.5789G= (p.Arg1930=) c.2090G= (p.Arg697=) c.6176G= (p.Arg2059=) c.5540G= (p.Arg1847=) c.2330G= (p.Arg777=) | |
| 5 | g.177293964G>T | CA362324232 | NSD1 | c.5723G>T (p.Arg1908Leu) c.1238G>T (p.Arg413Leu) n.6179G>T n.1012G>T c.6287G>T (p.Arg2096Leu) n.5993G>T c.6596G>T (p.Arg2199Leu) c.5789G>T (p.Arg1930Leu) c.2090G>T (p.Arg697Leu) c.6176G>T (p.Arg2059Leu) c.5540G>T (p.Arg1847Leu) c.2330G>T (p.Arg777Leu) | |
| 5 | g.177293965T>A | CA447961460 | NSD1 | c.5724T>A (p.Arg1908=) c.1239T>A (p.Arg413=) n.6180T>A n.1013T>A c.6288T>A (p.Arg2096=) n.5994T>A c.6597T>A (p.Arg2199=) c.5790T>A (p.Arg1930=) c.2091T>A (p.Arg697=) c.6177T>A (p.Arg2059=) c.5541T>A (p.Arg1847=) c.2331T>A (p.Arg777=) | |
| 5 | g.177293965T>C | CA447961461 | NSD1 | c.5724T>C (p.Arg1908=) c.1239T>C (p.Arg413=) n.6180T>C n.1013T>C c.6288T>C (p.Arg2096=) n.5994T>C c.6597T>C (p.Arg2199=) c.5790T>C (p.Arg1930=) c.2091T>C (p.Arg697=) c.6177T>C (p.Arg2059=) c.5541T>C (p.Arg1847=) c.2331T>C (p.Arg777=) | |
| 5 | g.177293965T>G | CA447961462 | NSD1 | c.5724T>G (p.Arg1908=) c.1239T>G (p.Arg413=) n.6180T>G n.1013T>G c.6288T>G (p.Arg2096=) n.5994T>G c.6597T>G (p.Arg2199=) c.5790T>G (p.Arg1930=) c.2091T>G (p.Arg697=) c.6177T>G (p.Arg2059=) c.5541T>G (p.Arg1847=) c.2331T>G (p.Arg777=) | |
| 5 | g.177293966C>A | CA362324236 | NSD1 | c.5725C>A (p.Leu1909Met) c.1240C>A (p.Leu414Met) n.6181C>A n.1014C>A c.6289C>A (p.Leu2097Met) n.5995C>A c.6598C>A (p.Leu2200Met) c.5791C>A (p.Leu1931Met) c.2092C>A (p.Leu698Met) c.6178C>A (p.Leu2060Met) c.5542C>A (p.Leu1848Met) c.2332C>A (p.Leu778Met) | dbSNP |
| 5 | g.177293966C>G | CA362324239 | NSD1 | c.5725C>G (p.Leu1909Val) c.1240C>G (p.Leu414Val) n.6181C>G n.1014C>G c.6289C>G (p.Leu2097Val) n.5995C>G c.6598C>G (p.Leu2200Val) c.5791C>G (p.Leu1931Val) c.2092C>G (p.Leu698Val) c.6178C>G (p.Leu2060Val) c.5542C>G (p.Leu1848Val) c.2332C>G (p.Leu778Val) | dbSNP |
| 5 | g.177293966C>T | CA447961463 | NSD1 | c.5725C>T (p.Leu1909=) c.1240C>T (p.Leu414=) n.6181C>T n.1014C>T c.6289C>T (p.Leu2097=) n.5995C>T c.6598C>T (p.Leu2200=) c.5791C>T (p.Leu1931=) c.2092C>T (p.Leu698=) c.6178C>T (p.Leu2060=) c.5542C>T (p.Leu1848=) c.2332C>T (p.Leu778=) | dbSNP |
| 5 | g.177293967T>A | CA362324241 | NSD1 | c.5726T>A (p.Leu1909Gln) c.1241T>A (p.Leu414Gln) n.6182T>A n.1015T>A c.6290T>A (p.Leu2097Gln) n.5996T>A c.6599T>A (p.Leu2200Gln) c.5792T>A (p.Leu1931Gln) c.2093T>A (p.Leu698Gln) c.6179T>A (p.Leu2060Gln) c.5543T>A (p.Leu1848Gln) c.2333T>A (p.Leu778Gln) | |
| 5 | g.177293967T>C | CA362324248 | NSD1 | c.5726T>C (p.Leu1909Pro) c.1241T>C (p.Leu414Pro) n.6182T>C n.1015T>C c.6290T>C (p.Leu2097Pro) n.5996T>C c.6599T>C (p.Leu2200Pro) c.5792T>C (p.Leu1931Pro) c.2093T>C (p.Leu698Pro) c.6179T>C (p.Leu2060Pro) c.5543T>C (p.Leu1848Pro) c.2333T>C (p.Leu778Pro) | |
| 5 | g.177293967T>G | CA362324245 | NSD1 | c.5726T>G (p.Leu1909Arg) c.1241T>G (p.Leu414Arg) n.6182T>G n.1015T>G c.6290T>G (p.Leu2097Arg) n.5996T>G c.6599T>G (p.Leu2200Arg) c.5792T>G (p.Leu1931Arg) c.2093T>G (p.Leu698Arg) c.6179T>G (p.Leu2060Arg) c.5543T>G (p.Leu1848Arg) c.2333T>G (p.Leu778Arg) | |
| 5 | g.177293968G>A | CA447961467 | NSD1 | c.5727G>A (p.Leu1909=) c.1242G>A (p.Leu414=) n.6183G>A n.1016G>A c.6291G>A (p.Leu2097=) n.5997G>A c.6600G>A (p.Leu2200=) c.5793G>A (p.Leu1931=) c.2094G>A (p.Leu698=) c.6180G>A (p.Leu2060=) c.5544G>A (p.Leu1848=) c.2334G>A (p.Leu778=) | |
| 5 | g.177293968G>C | CA447961469 | NSD1 | c.5727G>C (p.Leu1909=) c.1242G>C (p.Leu414=) n.6183G>C n.1016G>C c.6291G>C (p.Leu2097=) n.5997G>C c.6600G>C (p.Leu2200=) c.5793G>C (p.Leu1931=) c.2094G>C (p.Leu698=) c.6180G>C (p.Leu2060=) c.5544G>C (p.Leu1848=) c.2334G>C (p.Leu778=) | |
| 5 | g.177293968G>T | CA447961471 | NSD1 | c.5727G>T (p.Leu1909=) c.1242G>T (p.Leu414=) n.6183G>T n.1016G>T c.6291G>T (p.Leu2097=) n.5997G>T c.6600G>T (p.Leu2200=) c.5793G>T (p.Leu1931=) c.2094G>T (p.Leu698=) c.6180G>T (p.Leu2060=) c.5544G>T (p.Leu1848=) c.2334G>T (p.Leu778=) | |
| 5 | g.177293969T>A | CA362324252 | NSD1 | c.5728T>A (p.Ser1910Thr) c.1243T>A (p.Ser415Thr) n.6184T>A n.1017T>A c.6292T>A (p.Ser2098Thr) n.5998T>A c.6601T>A (p.Ser2201Thr) c.5794T>A (p.Ser1932Thr) c.2095T>A (p.Ser699Thr) c.6181T>A (p.Ser2061Thr) c.5545T>A (p.Ser1849Thr) c.2335T>A (p.Ser779Thr) | |
| 5 | g.177293969T>C | CA362324255 | NSD1 | c.5728T>C (p.Ser1910Pro) c.1243T>C (p.Ser415Pro) n.6184T>C n.1017T>C c.6292T>C (p.Ser2098Pro) n.5998T>C c.6601T>C (p.Ser2201Pro) c.5794T>C (p.Ser1932Pro) c.2095T>C (p.Ser699Pro) c.6181T>C (p.Ser2061Pro) c.5545T>C (p.Ser1849Pro) c.2335T>C (p.Ser779Pro) | |
| 5 | g.177293969T>G | CA362324256 | NSD1 | c.5728T>G (p.Ser1910Ala) c.1243T>G (p.Ser415Ala) n.6184T>G n.1017T>G c.6292T>G (p.Ser2098Ala) n.5998T>G c.6601T>G (p.Ser2201Ala) c.5794T>G (p.Ser1932Ala) c.2095T>G (p.Ser699Ala) c.6181T>G (p.Ser2061Ala) c.5545T>G (p.Ser1849Ala) c.2335T>G (p.Ser779Ala) | |
| 5 | g.177293970C>A | CA362324262 | NSD1 | c.5729C>A (p.Ser1910Tyr) c.1244C>A (p.Ser415Tyr) n.6185C>A n.1018C>A c.6293C>A (p.Ser2098Tyr) n.5999C>A c.6602C>A (p.Ser2201Tyr) c.5795C>A (p.Ser1932Tyr) c.2096C>A (p.Ser699Tyr) c.6182C>A (p.Ser2061Tyr) c.5546C>A (p.Ser1849Tyr) c.2336C>A (p.Ser779Tyr) | |
| 5 | g.177293970C>G | CA362324264 | NSD1 | c.5729C>G (p.Ser1910Cys) c.1244C>G (p.Ser415Cys) n.6185C>G n.1018C>G c.6293C>G (p.Ser2098Cys) n.5999C>G c.6602C>G (p.Ser2201Cys) c.5795C>G (p.Ser1932Cys) c.2096C>G (p.Ser699Cys) c.6182C>G (p.Ser2061Cys) c.5546C>G (p.Ser1849Cys) c.2336C>G (p.Ser779Cys) | dbSNP |
| 5 | g.177293970C>T | CA362324267 | NSD1 | c.5729C>T (p.Ser1910Phe) c.1244C>T (p.Ser415Phe) n.6185C>T n.1018C>T c.6293C>T (p.Ser2098Phe) n.5999C>T c.6602C>T (p.Ser2201Phe) c.5795C>T (p.Ser1932Phe) c.2096C>T (p.Ser699Phe) c.6182C>T (p.Ser2061Phe) c.5546C>T (p.Ser1849Phe) c.2336C>T (p.Ser779Phe) | |
| 5 | g.177293971T>A | CA447961491 | NSD1 | c.5730T>A (p.Ser1910=) c.1245T>A (p.Ser415=) n.6186T>A n.1019T>A c.6294T>A (p.Ser2098=) n.6000T>A c.6603T>A (p.Ser2201=) c.5796T>A (p.Ser1932=) c.2097T>A (p.Ser699=) c.6183T>A (p.Ser2061=) c.5547T>A (p.Ser1849=) c.2337T>A (p.Ser779=) | COSMIC COSMIC |
| 5 | g.177293971T>C | CA447961492 | NSD1 | c.5730T>C (p.Ser1910=) c.1245T>C (p.Ser415=) n.6186T>C n.1019T>C c.6294T>C (p.Ser2098=) n.6000T>C c.6603T>C (p.Ser2201=) c.5796T>C (p.Ser1932=) c.2097T>C (p.Ser699=) c.6183T>C (p.Ser2061=) c.5547T>C (p.Ser1849=) c.2337T>C (p.Ser779=) | |
| 5 | g.177293971T>G | CA447961493 | NSD1 | c.5730T>G (p.Ser1910=) c.1245T>G (p.Ser415=) n.6186T>G n.1019T>G c.6294T>G (p.Ser2098=) n.6000T>G c.6603T>G (p.Ser2201=) c.5796T>G (p.Ser1932=) c.2097T>G (p.Ser699=) c.6183T>G (p.Ser2061=) c.5547T>G (p.Ser1849=) c.2337T>G (p.Ser779=) | |
| 5 | g.177293972T>A | CA295105 | NSD1 | c.5731T>A (p.Cys1911Ser) c.1246T>A (p.Cys416Ser) n.6187T>A n.1020T>A c.6295T>A (p.Cys2099Ser) n.6001T>A c.6604T>A (p.Cys2202Ser) c.5797T>A (p.Cys1933Ser) c.2098T>A (p.Cys700Ser) c.6184T>A (p.Cys2062Ser) c.5548T>A (p.Cys1850Ser) c.2338T>A (p.Cys780Ser) | ClinVar dbSNP |
| 5 | g.177293972T>C | CA362324273 | NSD1 | c.5731T>C (p.Cys1911Arg) c.1246T>C (p.Cys416Arg) n.6187T>C n.1020T>C c.6295T>C (p.Cys2099Arg) n.6001T>C c.6604T>C (p.Cys2202Arg) c.5797T>C (p.Cys1933Arg) c.2098T>C (p.Cys700Arg) c.6184T>C (p.Cys2062Arg) c.5548T>C (p.Cys1850Arg) c.2338T>C (p.Cys780Arg) | gnomAD v4 |
| 5 | g.177293972T>G | CA362324275 | NSD1 | c.5731T>G (p.Cys1911Gly) c.1246T>G (p.Cys416Gly) n.6187T>G n.1020T>G c.6295T>G (p.Cys2099Gly) n.6001T>G c.6604T>G (p.Cys2202Gly) c.5797T>G (p.Cys1933Gly) c.2098T>G (p.Cys700Gly) c.6184T>G (p.Cys2062Gly) c.5548T>G (p.Cys1850Gly) c.2338T>G (p.Cys780Gly) | |
| 5 | g.177293972T= | CA1603535533 | NSD1 | c.5731T= (p.Cys1911=) c.1246T= (p.Cys416=) n.6187T= n.1020T= c.6295T= (p.Cys2099=) n.6001T= c.6604T= (p.Cys2202=) c.5797T= (p.Cys1933=) c.2098T= (p.Cys700=) c.6184T= (p.Cys2062=) c.5548T= (p.Cys1850=) c.2338T= (p.Cys780=) | |
| 5 | g.177293973G>A | CA281548 | NSD1 | c.5732G>A (p.Cys1911Tyr) c.1247G>A (p.Cys416Tyr) n.6188G>A n.1021G>A c.6296G>A (p.Cys2099Tyr) n.6002G>A c.6605G>A (p.Cys2202Tyr) c.5798G>A (p.Cys1933Tyr) c.2099G>A (p.Cys700Tyr) c.6185G>A (p.Cys2062Tyr) c.5549G>A (p.Cys1850Tyr) c.2339G>A (p.Cys780Tyr) | ClinVar dbSNP |
| 5 | g.177293973G>C | CA362324281 | NSD1 | c.5732G>C (p.Cys1911Ser) c.1247G>C (p.Cys416Ser) n.6188G>C n.1021G>C c.6296G>C (p.Cys2099Ser) n.6002G>C c.6605G>C (p.Cys2202Ser) c.5798G>C (p.Cys1933Ser) c.2099G>C (p.Cys700Ser) c.6185G>C (p.Cys2062Ser) c.5549G>C (p.Cys1850Ser) c.2339G>C (p.Cys780Ser) | |
| 5 | g.177293973G= | CA1603535538 | NSD1 | c.5732G= (p.Cys1911=) c.1247G= (p.Cys416=) n.6188G= n.1021G= c.6296G= (p.Cys2099=) n.6002G= c.6605G= (p.Cys2202=) c.5798G= (p.Cys1933=) c.2099G= (p.Cys700=) c.6185G= (p.Cys2062=) c.5549G= (p.Cys1850=) c.2339G= (p.Cys780=) | |
| 5 | g.177293973G>T | CA362324284 | NSD1 | c.5732G>T (p.Cys1911Phe) c.1247G>T (p.Cys416Phe) n.6188G>T n.1021G>T c.6296G>T (p.Cys2099Phe) n.6002G>T c.6605G>T (p.Cys2202Phe) c.5798G>T (p.Cys1933Phe) c.2099G>T (p.Cys700Phe) c.6185G>T (p.Cys2062Phe) c.5549G>T (p.Cys1850Phe) c.2339G>T (p.Cys780Phe) | ClinVar |
| 5 | g.177293974T>A | CA362324288 | NSD1 | c.5733T>A (p.Cys1911Ter) c.1248T>A (p.Cys416Ter) n.6189T>A n.1022T>A c.6297T>A (p.Cys2099Ter) n.6003T>A c.6606T>A (p.Cys2202Ter) c.5799T>A (p.Cys1933Ter) c.2100T>A (p.Cys700Ter) c.6186T>A (p.Cys2062Ter) c.5550T>A (p.Cys1850Ter) c.2340T>A (p.Cys780Ter) | |
| 5 | g.177293974T>C | CA3578021 | NSD1 | c.5733T>C (p.Cys1911=) c.1248T>C (p.Cys416=) n.6189T>C n.1022T>C c.6297T>C (p.Cys2099=) n.6003T>C c.6606T>C (p.Cys2202=) c.5799T>C (p.Cys1933=) c.2100T>C (p.Cys700=) c.6186T>C (p.Cys2062=) c.5550T>C (p.Cys1850=) c.2340T>C (p.Cys780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177293974T>G | CA362324291 | NSD1 | c.5733T>G (p.Cys1911Trp) c.1248T>G (p.Cys416Trp) n.6189T>G n.1022T>G c.6297T>G (p.Cys2099Trp) n.6003T>G c.6606T>G (p.Cys2202Trp) c.5799T>G (p.Cys1933Trp) c.2100T>G (p.Cys700Trp) c.6186T>G (p.Cys2062Trp) c.5550T>G (p.Cys1850Trp) c.2340T>G (p.Cys780Trp) | |
| 5 | g.177293974T= | CA1603535547 | NSD1 | c.5733T= (p.Cys1911=) c.1248T= (p.Cys416=) n.6189T= n.1022T= c.6297T= (p.Cys2099=) n.6003T= c.6606T= (p.Cys2202=) c.5799T= (p.Cys1933=) c.2100T= (p.Cys700=) c.6186T= (p.Cys2062=) c.5550T= (p.Cys1850=) c.2340T= (p.Cys780=) | |
| 5 | g.177293975A>C | CA362324296 | NSD1 | c.5734A>C (p.Thr1912Pro) c.1249A>C (p.Thr417Pro) n.6190A>C n.1023A>C c.6298A>C (p.Thr2100Pro) n.6004A>C c.6607A>C (p.Thr2203Pro) c.5800A>C (p.Thr1934Pro) c.2101A>C (p.Thr701Pro) c.6187A>C (p.Thr2063Pro) c.5551A>C (p.Thr1851Pro) c.2341A>C (p.Thr781Pro) | |
| 5 | g.177293975A>G | CA362324298 | NSD1 | c.5734A>G (p.Thr1912Ala) c.1249A>G (p.Thr417Ala) n.6190A>G n.1023A>G c.6298A>G (p.Thr2100Ala) n.6004A>G c.6607A>G (p.Thr2203Ala) c.5800A>G (p.Thr1934Ala) c.2101A>G (p.Thr701Ala) c.6187A>G (p.Thr2063Ala) c.5551A>G (p.Thr1851Ala) c.2341A>G (p.Thr781Ala) | |
| 5 | g.177293975A>T | CA362324300 | NSD1 | c.5734A>T (p.Thr1912Ser) c.1249A>T (p.Thr417Ser) n.6190A>T n.1023A>T c.6298A>T (p.Thr2100Ser) n.6004A>T c.6607A>T (p.Thr2203Ser) c.5800A>T (p.Thr1934Ser) c.2101A>T (p.Thr701Ser) c.6187A>T (p.Thr2063Ser) c.5551A>T (p.Thr1851Ser) c.2341A>T (p.Thr781Ser) | |
| 5 | g.177293976C>A | CA362324304 | NSD1 | c.5735C>A (p.Thr1912Asn) c.1250C>A (p.Thr417Asn) n.6191C>A n.1024C>A c.6299C>A (p.Thr2100Asn) n.6005C>A c.6608C>A (p.Thr2203Asn) c.5801C>A (p.Thr1934Asn) c.2102C>A (p.Thr701Asn) c.6188C>A (p.Thr2063Asn) c.5552C>A (p.Thr1851Asn) c.2342C>A (p.Thr781Asn) | |
| 5 | g.177293976C>G | CA362324309 | NSD1 | c.5735C>G (p.Thr1912Ser) c.1250C>G (p.Thr417Ser) n.6191C>G n.1024C>G c.6299C>G (p.Thr2100Ser) n.6005C>G c.6608C>G (p.Thr2203Ser) c.5801C>G (p.Thr1934Ser) c.2102C>G (p.Thr701Ser) c.6188C>G (p.Thr2063Ser) c.5552C>G (p.Thr1851Ser) c.2342C>G (p.Thr781Ser) | dbSNP |
| 5 | g.177293976C>T | CA362324311 | NSD1 | c.5735C>T (p.Thr1912Ile) c.1250C>T (p.Thr417Ile) n.6191C>T n.1024C>T c.6299C>T (p.Thr2100Ile) n.6005C>T c.6608C>T (p.Thr2203Ile) c.5801C>T (p.Thr1934Ile) c.2102C>T (p.Thr701Ile) c.6188C>T (p.Thr2063Ile) c.5552C>T (p.Thr1851Ile) c.2342C>T (p.Thr781Ile) | dbSNP |
| 5 | g.177293977T>A | CA447961503 | NSD1 | c.5736T>A (p.Thr1912=) c.1251T>A (p.Thr417=) n.6192T>A n.1025T>A c.6300T>A (p.Thr2100=) n.6006T>A c.6609T>A (p.Thr2203=) c.5802T>A (p.Thr1934=) c.2103T>A (p.Thr701=) c.6189T>A (p.Thr2063=) c.5553T>A (p.Thr1851=) c.2343T>A (p.Thr781=) | |
| 5 | g.177293977T>C | CA447961505 | NSD1 | c.5736T>C (p.Thr1912=) c.1251T>C (p.Thr417=) n.6192T>C n.1025T>C c.6300T>C (p.Thr2100=) n.6006T>C c.6609T>C (p.Thr2203=) c.5802T>C (p.Thr1934=) c.2103T>C (p.Thr701=) c.6189T>C (p.Thr2063=) c.5553T>C (p.Thr1851=) c.2343T>C (p.Thr781=) | gnomAD v4 |
| 5 | g.177293977T>G | CA447961506 | NSD1 | c.5736T>G (p.Thr1912=) c.1251T>G (p.Thr417=) n.6192T>G n.1025T>G c.6300T>G (p.Thr2100=) n.6006T>G c.6609T>G (p.Thr2203=) c.5802T>G (p.Thr1934=) c.2103T>G (p.Thr701=) c.6189T>G (p.Thr2063=) c.5553T>G (p.Thr1851=) c.2343T>G (p.Thr781=) | |
| 5 | g.177293978G>A | CA362324323 | NSD1 | c.5737G>A (p.Glu1913Lys) c.1252G>A (p.Glu418Lys) n.6193G>A n.1026G>A c.6301G>A (p.Glu2101Lys) n.6007G>A c.6610G>A (p.Glu2204Lys) c.5803G>A (p.Glu1935Lys) c.2104G>A (p.Glu702Lys) c.6190G>A (p.Glu2064Lys) c.5554G>A (p.Glu1852Lys) c.2344G>A (p.Glu782Lys) | |
| 5 | g.177293978G>C | CA362324316 | NSD1 | c.5737G>C (p.Glu1913Gln) c.1252G>C (p.Glu418Gln) n.6193G>C n.1026G>C c.6301G>C (p.Glu2101Gln) n.6007G>C c.6610G>C (p.Glu2204Gln) c.5803G>C (p.Glu1935Gln) c.2104G>C (p.Glu702Gln) c.6190G>C (p.Glu2064Gln) c.5554G>C (p.Glu1852Gln) c.2344G>C (p.Glu782Gln) | |
| 5 | g.177293978G>T | CA362324318 | NSD1 | c.5737G>T (p.Glu1913Ter) c.1252G>T (p.Glu418Ter) n.6193G>T n.1026G>T c.6301G>T (p.Glu2101Ter) n.6007G>T c.6610G>T (p.Glu2204Ter) c.5803G>T (p.Glu1935Ter) c.2104G>T (p.Glu702Ter) c.6190G>T (p.Glu2064Ter) c.5554G>T (p.Glu1852Ter) c.2344G>T (p.Glu782Ter) | |
| 5 | g.177293979A>C | CA362324326 | NSD1 | c.5738A>C (p.Glu1913Ala) c.1253A>C (p.Glu418Ala) n.6194A>C n.1027A>C c.6302A>C (p.Glu2101Ala) n.6008A>C c.6611A>C (p.Glu2204Ala) c.5804A>C (p.Glu1935Ala) c.2105A>C (p.Glu702Ala) c.6191A>C (p.Glu2064Ala) c.5555A>C (p.Glu1852Ala) c.2345A>C (p.Glu782Ala) | |
| 5 | g.177293979A>G | CA362324328 | NSD1 | c.5738A>G (p.Glu1913Gly) c.1253A>G (p.Glu418Gly) n.6194A>G n.1027A>G c.6302A>G (p.Glu2101Gly) n.6008A>G c.6611A>G (p.Glu2204Gly) c.5804A>G (p.Glu1935Gly) c.2105A>G (p.Glu702Gly) c.6191A>G (p.Glu2064Gly) c.5555A>G (p.Glu1852Gly) c.2345A>G (p.Glu782Gly) | |
| 5 | g.177293979A>T | CA362324331 | NSD1 | c.5738A>T (p.Glu1913Val) c.1253A>T (p.Glu418Val) n.6194A>T n.1027A>T c.6302A>T (p.Glu2101Val) n.6008A>T c.6611A>T (p.Glu2204Val) c.5804A>T (p.Glu1935Val) c.2105A>T (p.Glu702Val) c.6191A>T (p.Glu2064Val) c.5555A>T (p.Glu1852Val) c.2345A>T (p.Glu782Val) | |
| 5 | g.177293980G>A | CA447961507 | NSD1 | c.5739G>A (p.Glu1913=) c.1254G>A (p.Glu418=) n.6195G>A n.1028G>A c.6303G>A (p.Glu2101=) n.6009G>A c.6612G>A (p.Glu2204=) c.5805G>A (p.Glu1935=) c.2106G>A (p.Glu702=) c.6192G>A (p.Glu2064=) c.5556G>A (p.Glu1852=) c.2346G>A (p.Glu782=) | |
| 5 | g.177293980G>C | CA362324335 | NSD1 | c.5739G>C (p.Glu1913Asp) c.1254G>C (p.Glu418Asp) n.6195G>C n.1028G>C c.6303G>C (p.Glu2101Asp) n.6009G>C c.6612G>C (p.Glu2204Asp) c.5805G>C (p.Glu1935Asp) c.2106G>C (p.Glu702Asp) c.6192G>C (p.Glu2064Asp) c.5556G>C (p.Glu1852Asp) c.2346G>C (p.Glu782Asp) | |
| 5 | g.177293980G>T | CA362324338 | NSD1 | c.5739G>T (p.Glu1913Asp) c.1254G>T (p.Glu418Asp) n.6195G>T n.1028G>T c.6303G>T (p.Glu2101Asp) n.6009G>T c.6612G>T (p.Glu2204Asp) c.5805G>T (p.Glu1935Asp) c.2106G>T (p.Glu702Asp) c.6192G>T (p.Glu2064Asp) c.5556G>T (p.Glu1852Asp) c.2346G>T (p.Glu782Asp) | |
| 5 | g.177293981C>A | CA362324342 | NSD1 | c.5740C>A (p.His1914Asn) c.1255C>A (p.His419Asn) n.6196C>A n.1029C>A c.6304C>A (p.His2102Asn) n.6010C>A c.6613C>A (p.His2205Asn) c.5806C>A (p.His1936Asn) c.2107C>A (p.His703Asn) c.6193C>A (p.His2065Asn) c.5557C>A (p.His1853Asn) c.2347C>A (p.His783Asn) | |
| 5 | g.177293981C= | CA1603535553 | NSD1 | c.5740C= (p.His1914=) c.1255C= (p.His419=) n.6196C= n.1029C= c.6304C= (p.His2102=) n.6010C= c.6613C= (p.His2205=) c.5806C= (p.His1936=) c.2107C= (p.His703=) c.6193C= (p.His2065=) c.5557C= (p.His1853=) c.2347C= (p.His783=) | |
| 5 | g.177293981C>G | CA362324347 | NSD1 | c.5740C>G (p.His1914Asp) c.1255C>G (p.His419Asp) n.6196C>G n.1029C>G c.6304C>G (p.His2102Asp) n.6010C>G c.6613C>G (p.His2205Asp) c.5806C>G (p.His1936Asp) c.2107C>G (p.His703Asp) c.6193C>G (p.His2065Asp) c.5557C>G (p.His1853Asp) c.2347C>G (p.His783Asp) | |
| 5 | g.177293981C>T | CA362324344 | NSD1 | c.5740C>T (p.His1914Tyr) c.1255C>T (p.His419Tyr) n.6196C>T n.1029C>T c.6304C>T (p.His2102Tyr) n.6010C>T c.6613C>T (p.His2205Tyr) c.5806C>T (p.His1936Tyr) c.2107C>T (p.His703Tyr) c.6193C>T (p.His2065Tyr) c.5557C>T (p.His1853Tyr) c.2347C>T (p.His783Tyr) | ClinVar dbSNP |
| 5 | g.177293982A>C | CA362324351 | NSD1 | c.5741A>C (p.His1914Pro) c.1256A>C (p.His419Pro) n.6197A>C n.1030A>C c.6305A>C (p.His2102Pro) n.6011A>C c.6614A>C (p.His2205Pro) c.5807A>C (p.His1936Pro) c.2108A>C (p.His703Pro) c.6194A>C (p.His2065Pro) c.5558A>C (p.His1853Pro) c.2348A>C (p.His783Pro) | ClinVar dbSNP |
| 5 | g.177293982A>G | CA362324354 | NSD1 | c.5741A>G (p.His1914Arg) c.1256A>G (p.His419Arg) n.6197A>G n.1030A>G c.6305A>G (p.His2102Arg) n.6011A>G c.6614A>G (p.His2205Arg) c.5807A>G (p.His1936Arg) c.2108A>G (p.His703Arg) c.6194A>G (p.His2065Arg) c.5558A>G (p.His1853Arg) c.2348A>G (p.His783Arg) | ClinVar |
| 5 | g.177293982A>T | CA362324356 | NSD1 | c.5741A>T (p.His1914Leu) c.1256A>T (p.His419Leu) n.6197A>T n.1030A>T c.6305A>T (p.His2102Leu) n.6011A>T c.6614A>T (p.His2205Leu) c.5807A>T (p.His1936Leu) c.2108A>T (p.His703Leu) c.6194A>T (p.His2065Leu) c.5558A>T (p.His1853Leu) c.2348A>T (p.His783Leu) | |
| 5 | g.177293983T>A | CA362324360 | NSD1 | c.5742T>A (p.His1914Gln) c.1257T>A (p.His419Gln) n.6198T>A n.1031T>A c.6306T>A (p.His2102Gln) n.6012T>A c.6615T>A (p.His2205Gln) c.5808T>A (p.His1936Gln) c.2109T>A (p.His703Gln) c.6195T>A (p.His2065Gln) c.5559T>A (p.His1853Gln) c.2349T>A (p.His783Gln) | |
| 5 | g.177293983T>C | CA447961511 | NSD1 | c.5742T>C (p.His1914=) c.1257T>C (p.His419=) n.6198T>C n.1031T>C c.6306T>C (p.His2102=) n.6012T>C c.6615T>C (p.His2205=) c.5808T>C (p.His1936=) c.2109T>C (p.His703=) c.6195T>C (p.His2065=) c.5559T>C (p.His1853=) c.2349T>C (p.His783=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177293983T>G | CA362324363 | NSD1 | c.5742T>G (p.His1914Gln) c.1257T>G (p.His419Gln) n.6198T>G n.1031T>G c.6306T>G (p.His2102Gln) n.6012T>G c.6615T>G (p.His2205Gln) c.5808T>G (p.His1936Gln) c.2109T>G (p.His703Gln) c.6195T>G (p.His2065Gln) c.5559T>G (p.His1853Gln) c.2349T>G (p.His783Gln) | |
| 5 | g.177293983T= | CA1603535559 | NSD1 | c.5742T= (p.His1914=) c.1257T= (p.His419=) n.6198T= n.1031T= c.6306T= (p.His2102=) n.6012T= c.6615T= (p.His2205=) c.5808T= (p.His1936=) c.2109T= (p.His703=) c.6195T= (p.His2065=) c.5559T= (p.His1853=) c.2349T= (p.His783=) | |
| 5 | g.177293984G>A | CA362324367 | NSD1 | c.5743G>A (p.Asp1915Asn) c.1258G>A (p.Asp420Asn) n.6199G>A n.1032G>A c.6307G>A (p.Asp2103Asn) n.6013G>A c.6616G>A (p.Asp2206Asn) c.5809G>A (p.Asp1937Asn) c.2110G>A (p.Asp704Asn) c.6196G>A (p.Asp2066Asn) c.5560G>A (p.Asp1854Asn) c.2350G>A (p.Asp784Asn) | |
| 5 | g.177293984G>C | CA362324369 | NSD1 | c.5743G>C (p.Asp1915His) c.1258G>C (p.Asp420His) n.6199G>C n.1032G>C c.6307G>C (p.Asp2103His) n.6013G>C c.6616G>C (p.Asp2206His) c.5809G>C (p.Asp1937His) c.2110G>C (p.Asp704His) c.6196G>C (p.Asp2066His) c.5560G>C (p.Asp1854His) c.2350G>C (p.Asp784His) | |
| 5 | g.177293984G>T | CA362324373 | NSD1 | c.5743G>T (p.Asp1915Tyr) c.1258G>T (p.Asp420Tyr) n.6199G>T n.1032G>T c.6307G>T (p.Asp2103Tyr) n.6013G>T c.6616G>T (p.Asp2206Tyr) c.5809G>T (p.Asp1937Tyr) c.2110G>T (p.Asp704Tyr) c.6196G>T (p.Asp2066Tyr) c.5560G>T (p.Asp1854Tyr) c.2350G>T (p.Asp784Tyr) | |
| 5 | g.177293985A>C | CA362324377 | NSD1 | c.5744A>C (p.Asp1915Ala) c.1259A>C (p.Asp420Ala) n.6200A>C n.1033A>C c.6308A>C (p.Asp2103Ala) n.6014A>C c.6617A>C (p.Asp2206Ala) c.5810A>C (p.Asp1937Ala) c.2111A>C (p.Asp704Ala) c.6197A>C (p.Asp2066Ala) c.5561A>C (p.Asp1854Ala) c.2351A>C (p.Asp784Ala) | |
| 5 | g.177293985A>G | CA362324380 | NSD1 | c.5744A>G (p.Asp1915Gly) c.1259A>G (p.Asp420Gly) n.6200A>G n.1033A>G c.6308A>G (p.Asp2103Gly) n.6014A>G c.6617A>G (p.Asp2206Gly) c.5810A>G (p.Asp1937Gly) c.2111A>G (p.Asp704Gly) c.6197A>G (p.Asp2066Gly) c.5561A>G (p.Asp1854Gly) c.2351A>G (p.Asp784Gly) | |
| 5 | g.177293985A>T | CA362324381 | NSD1 | c.5744A>T (p.Asp1915Val) c.1259A>T (p.Asp420Val) n.6200A>T n.1033A>T c.6308A>T (p.Asp2103Val) n.6014A>T c.6617A>T (p.Asp2206Val) c.5810A>T (p.Asp1937Val) c.2111A>T (p.Asp704Val) c.6197A>T (p.Asp2066Val) c.5561A>T (p.Asp1854Val) c.2351A>T (p.Asp784Val) | dbSNP |
| 5 | g.177293986C>A | CA362324386 | NSD1 | c.5745C>A (p.Asp1915Glu) c.1260C>A (p.Asp420Glu) n.6201C>A n.1034C>A c.6309C>A (p.Asp2103Glu) n.6015C>A c.6618C>A (p.Asp2206Glu) c.5811C>A (p.Asp1937Glu) c.2112C>A (p.Asp704Glu) c.6198C>A (p.Asp2066Glu) c.5562C>A (p.Asp1854Glu) c.2352C>A (p.Asp784Glu) | dbSNP |
| 5 | g.177293986C>G | CA362324388 | NSD1 | c.5745C>G (p.Asp1915Glu) c.1260C>G (p.Asp420Glu) n.6201C>G n.1034C>G c.6309C>G (p.Asp2103Glu) n.6015C>G c.6618C>G (p.Asp2206Glu) c.5811C>G (p.Asp1937Glu) c.2112C>G (p.Asp704Glu) c.6198C>G (p.Asp2066Glu) c.5562C>G (p.Asp1854Glu) c.2352C>G (p.Asp784Glu) | |
| 5 | g.177293986C>T | CA447961515 | NSD1 | c.5745C>T (p.Asp1915=) c.1260C>T (p.Asp420=) n.6201C>T n.1034C>T c.6309C>T (p.Asp2103=) n.6015C>T c.6618C>T (p.Asp2206=) c.5811C>T (p.Asp1937=) c.2112C>T (p.Asp704=) c.6198C>T (p.Asp2066=) c.5562C>T (p.Asp1854=) c.2352C>T (p.Asp784=) | |
| 5 | g.177293987C>A | CA362324392 | NSD1 | c.5746C>A (p.Pro1916Thr) c.1261C>A (p.Pro421Thr) n.6202C>A n.1035C>A c.6310C>A (p.Pro2104Thr) n.6016C>A c.6619C>A (p.Pro2207Thr) c.5812C>A (p.Pro1938Thr) c.2113C>A (p.Pro705Thr) c.6199C>A (p.Pro2067Thr) c.5563C>A (p.Pro1855Thr) c.2353C>A (p.Pro785Thr) | |
| 5 | g.177293987C>G | CA362324399 | NSD1 | c.5746C>G (p.Pro1916Ala) c.1261C>G (p.Pro421Ala) n.6202C>G n.1035C>G c.6310C>G (p.Pro2104Ala) n.6016C>G c.6619C>G (p.Pro2207Ala) c.5812C>G (p.Pro1938Ala) c.2113C>G (p.Pro705Ala) c.6199C>G (p.Pro2067Ala) c.5563C>G (p.Pro1855Ala) c.2353C>G (p.Pro785Ala) | |
| 5 | g.177293987C>T | CA362324395 | NSD1 | c.5746C>T (p.Pro1916Ser) c.1261C>T (p.Pro421Ser) n.6202C>T n.1035C>T c.6310C>T (p.Pro2104Ser) n.6016C>T c.6619C>T (p.Pro2207Ser) c.5812C>T (p.Pro1938Ser) c.2113C>T (p.Pro705Ser) c.6199C>T (p.Pro2067Ser) c.5563C>T (p.Pro1855Ser) c.2353C>T (p.Pro785Ser) | |
| 5 | g.177293988C>A | CA362324402 | NSD1 | c.5747C>A (p.Pro1916His) c.1262C>A (p.Pro421His) n.6203C>A n.1036C>A c.6311C>A (p.Pro2104His) n.6017C>A c.6620C>A (p.Pro2207His) c.5813C>A (p.Pro1938His) c.2114C>A (p.Pro705His) c.6200C>A (p.Pro2067His) c.5564C>A (p.Pro1855His) c.2354C>A (p.Pro785His) | dbSNP COSMIC COSMIC |
| 5 | g.177293988C>G | CA362324405 | NSD1 | c.5747C>G (p.Pro1916Arg) c.1262C>G (p.Pro421Arg) n.6203C>G n.1036C>G c.6311C>G (p.Pro2104Arg) n.6017C>G c.6620C>G (p.Pro2207Arg) c.5813C>G (p.Pro1938Arg) c.2114C>G (p.Pro705Arg) c.6200C>G (p.Pro2067Arg) c.5564C>G (p.Pro1855Arg) c.2354C>G (p.Pro785Arg) | |
| 5 | g.177293988C>T | CA362324407 | NSD1 | c.5747C>T (p.Pro1916Leu) c.1262C>T (p.Pro421Leu) n.6203C>T n.1036C>T c.6311C>T (p.Pro2104Leu) n.6017C>T c.6620C>T (p.Pro2207Leu) c.5813C>T (p.Pro1938Leu) c.2114C>T (p.Pro705Leu) c.6200C>T (p.Pro2067Leu) c.5564C>T (p.Pro1855Leu) c.2354C>T (p.Pro785Leu) | ClinVar |
| 5 | g.177293989C>A | CA447961519 | NSD1 | c.5748C>A (p.Pro1916=) c.1263C>A (p.Pro421=) n.6204C>A n.1037C>A c.6312C>A (p.Pro2104=) n.6018C>A c.6621C>A (p.Pro2207=) c.5814C>A (p.Pro1938=) c.2115C>A (p.Pro705=) c.6201C>A (p.Pro2067=) c.5565C>A (p.Pro1855=) c.2355C>A (p.Pro785=) | dbSNP |
| 5 | g.177293989C= | CA1603535563 | NSD1 | c.5748C= (p.Pro1916=) c.1263C= (p.Pro421=) n.6204C= n.1037C= c.6312C= (p.Pro2104=) n.6018C= c.6621C= (p.Pro2207=) c.5814C= (p.Pro1938=) c.2115C= (p.Pro705=) c.6201C= (p.Pro2067=) c.5565C= (p.Pro1855=) c.2355C= (p.Pro785=) | |
| 5 | g.177293989C>G | CA447961521 | NSD1 | c.5748C>G (p.Pro1916=) c.1263C>G (p.Pro421=) n.6204C>G n.1037C>G c.6312C>G (p.Pro2104=) n.6018C>G c.6621C>G (p.Pro2207=) c.5814C>G (p.Pro1938=) c.2115C>G (p.Pro705=) c.6201C>G (p.Pro2067=) c.5565C>G (p.Pro1855=) c.2355C>G (p.Pro785=) | |
| 5 | g.177293989C>T | CA132862457 | NSD1 | c.5748C>T (p.Pro1916=) c.1263C>T (p.Pro421=) n.6204C>T n.1037C>T c.6312C>T (p.Pro2104=) n.6018C>T c.6621C>T (p.Pro2207=) c.5814C>T (p.Pro1938=) c.2115C>T (p.Pro705=) c.6201C>T (p.Pro2067=) c.5565C>T (p.Pro1855=) c.2355C>T (p.Pro785=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177293990T>A | CA362324410 | NSD1 | c.5749T>A (p.Cys1917Ser) c.1264T>A (p.Cys422Ser) n.6205T>A n.1038T>A c.6313T>A (p.Cys2105Ser) n.6019T>A c.6622T>A (p.Cys2208Ser) c.5815T>A (p.Cys1939Ser) c.2116T>A (p.Cys706Ser) c.6202T>A (p.Cys2068Ser) c.5566T>A (p.Cys1856Ser) c.2356T>A (p.Cys786Ser) | |
| 5 | g.177293990T>C | CA362324413 | NSD1 | c.5749T>C (p.Cys1917Arg) c.1264T>C (p.Cys422Arg) n.6205T>C n.1038T>C c.6313T>C (p.Cys2105Arg) n.6019T>C c.6622T>C (p.Cys2208Arg) c.5815T>C (p.Cys1939Arg) c.2116T>C (p.Cys706Arg) c.6202T>C (p.Cys2068Arg) c.5566T>C (p.Cys1856Arg) c.2356T>C (p.Cys786Arg) | |
| 5 | g.177293990T>G | CA362324416 | NSD1 | c.5749T>G (p.Cys1917Gly) c.1264T>G (p.Cys422Gly) n.6205T>G n.1038T>G c.6313T>G (p.Cys2105Gly) n.6019T>G c.6622T>G (p.Cys2208Gly) c.5815T>G (p.Cys1939Gly) c.2116T>G (p.Cys706Gly) c.6202T>G (p.Cys2068Gly) c.5566T>G (p.Cys1856Gly) c.2356T>G (p.Cys786Gly) | |
| 5 | g.177293991G>A | CA362324425 | NSD1 | c.5750G>A (p.Cys1917Tyr) c.1265G>A (p.Cys422Tyr) n.6206G>A n.1039G>A c.6314G>A (p.Cys2105Tyr) n.6020G>A c.6623G>A (p.Cys2208Tyr) c.5816G>A (p.Cys1939Tyr) c.2117G>A (p.Cys706Tyr) c.6203G>A (p.Cys2068Tyr) c.5567G>A (p.Cys1856Tyr) c.2357G>A (p.Cys786Tyr) | dbSNP |
| 5 | g.177293991G>C | CA362324420 | NSD1 | c.5750G>C (p.Cys1917Ser) c.1265G>C (p.Cys422Ser) n.6206G>C n.1039G>C c.6314G>C (p.Cys2105Ser) n.6020G>C c.6623G>C (p.Cys2208Ser) c.5816G>C (p.Cys1939Ser) c.2117G>C (p.Cys706Ser) c.6203G>C (p.Cys2068Ser) c.5567G>C (p.Cys1856Ser) c.2357G>C (p.Cys786Ser) | |
| 5 | g.177293991G>T | CA362324422 | NSD1 | c.5750G>T (p.Cys1917Phe) c.1265G>T (p.Cys422Phe) n.6206G>T n.1039G>T c.6314G>T (p.Cys2105Phe) n.6020G>T c.6623G>T (p.Cys2208Phe) c.5816G>T (p.Cys1939Phe) c.2117G>T (p.Cys706Phe) c.6203G>T (p.Cys2068Phe) c.5567G>T (p.Cys1856Phe) c.2357G>T (p.Cys786Phe) | |
| 5 | g.177293992T>A | CA362324429 | NSD1 | c.5751T>A (p.Cys1917Ter) c.1266T>A (p.Cys422Ter) n.6207T>A n.1040T>A c.6315T>A (p.Cys2105Ter) n.6021T>A c.6624T>A (p.Cys2208Ter) c.5817T>A (p.Cys1939Ter) c.2118T>A (p.Cys706Ter) c.6204T>A (p.Cys2068Ter) c.5568T>A (p.Cys1856Ter) c.2358T>A (p.Cys786Ter) | |
| 5 | g.177293992T>C | CA447961524 | NSD1 | c.5751T>C (p.Cys1917=) c.1266T>C (p.Cys422=) n.6207T>C n.1040T>C c.6315T>C (p.Cys2105=) n.6021T>C c.6624T>C (p.Cys2208=) c.5817T>C (p.Cys1939=) c.2118T>C (p.Cys706=) c.6204T>C (p.Cys2068=) c.5568T>C (p.Cys1856=) c.2358T>C (p.Cys786=) | |
| 5 | g.177293992T>G | CA362324431 | NSD1 | c.5751T>G (p.Cys1917Trp) c.1266T>G (p.Cys422Trp) n.6207T>G n.1040T>G c.6315T>G (p.Cys2105Trp) n.6021T>G c.6624T>G (p.Cys2208Trp) c.5817T>G (p.Cys1939Trp) c.2118T>G (p.Cys706Trp) c.6204T>G (p.Cys2068Trp) c.5568T>G (p.Cys1856Trp) c.2358T>G (p.Cys786Trp) | |
| 5 | g.177293993G>A | CA362324437 | NSD1 | c.5752G>A (p.Gly1918Arg) c.1267G>A (p.Gly423Arg) n.6208G>A n.1041G>A c.6316G>A (p.Gly2106Arg) n.6022G>A c.6625G>A (p.Gly2209Arg) c.5818G>A (p.Gly1940Arg) c.2119G>A (p.Gly707Arg) c.6205G>A (p.Gly2069Arg) c.5569G>A (p.Gly1857Arg) c.2359G>A (p.Gly787Arg) | |
| 5 | g.177293993G>C | CA362324438 | NSD1 | c.5752G>C (p.Gly1918Arg) c.1267G>C (p.Gly423Arg) n.6208G>C n.1041G>C c.6316G>C (p.Gly2106Arg) n.6022G>C c.6625G>C (p.Gly2209Arg) c.5818G>C (p.Gly1940Arg) c.2119G>C (p.Gly707Arg) c.6205G>C (p.Gly2069Arg) c.5569G>C (p.Gly1857Arg) c.2359G>C (p.Gly787Arg) | ClinVar |
| 5 | g.177293993G= | CA1603535566 | NSD1 | c.5752G= (p.Gly1918=) c.1267G= (p.Gly423=) n.6208G= n.1041G= c.6316G= (p.Gly2106=) n.6022G= c.6625G= (p.Gly2209=) c.5818G= (p.Gly1940=) c.2119G= (p.Gly707=) c.6205G= (p.Gly2069=) c.5569G= (p.Gly1857=) c.2359G= (p.Gly787=) | |
| 5 | g.177293993G>T | CA362324442 | NSD1 | c.5752G>T (p.Gly1918Trp) c.1267G>T (p.Gly423Trp) n.6208G>T n.1041G>T c.6316G>T (p.Gly2106Trp) n.6022G>T c.6625G>T (p.Gly2209Trp) c.5818G>T (p.Gly1940Trp) c.2119G>T (p.Gly707Trp) c.6205G>T (p.Gly2069Trp) c.5569G>T (p.Gly1857Trp) c.2359G>T (p.Gly787Trp) | ClinVar dbSNP |
| 5 | g.177293994G>A | CA362324447 | NSD1 | c.5753G>A (p.Gly1918Glu) c.1268G>A (p.Gly423Glu) n.6209G>A n.1042G>A c.6317G>A (p.Gly2106Glu) n.6023G>A c.6626G>A (p.Gly2209Glu) c.5819G>A (p.Gly1940Glu) c.2120G>A (p.Gly707Glu) c.6206G>A (p.Gly2069Glu) c.5570G>A (p.Gly1857Glu) c.2360G>A (p.Gly787Glu) | |
| 5 | g.177293994G>C | CA362324453 | NSD1 | c.5753G>C (p.Gly1918Ala) c.1268G>C (p.Gly423Ala) n.6209G>C n.1042G>C c.6317G>C (p.Gly2106Ala) n.6023G>C c.6626G>C (p.Gly2209Ala) c.5819G>C (p.Gly1940Ala) c.2120G>C (p.Gly707Ala) c.6206G>C (p.Gly2069Ala) c.5570G>C (p.Gly1857Ala) c.2360G>C (p.Gly787Ala) | |
| 5 | g.177293994G>T | CA362324449 | NSD1 | c.5753G>T (p.Gly1918Val) c.1268G>T (p.Gly423Val) n.6209G>T n.1042G>T c.6317G>T (p.Gly2106Val) n.6023G>T c.6626G>T (p.Gly2209Val) c.5819G>T (p.Gly1940Val) c.2120G>T (p.Gly707Val) c.6206G>T (p.Gly2069Val) c.5570G>T (p.Gly1857Val) c.2360G>T (p.Gly787Val) | dbSNP |
| 5 | g.177293995G>A | CA447961527 | NSD1 | c.5754G>A (p.Gly1918=) c.1269G>A (p.Gly423=) n.6210G>A n.1043G>A c.6318G>A (p.Gly2106=) n.6024G>A c.6627G>A (p.Gly2209=) c.5820G>A (p.Gly1940=) c.2121G>A (p.Gly707=) c.6207G>A (p.Gly2069=) c.5571G>A (p.Gly1857=) c.2361G>A (p.Gly787=) | dbSNP |
| 5 | g.177293995G>C | CA447961528 | NSD1 | c.5754G>C (p.Gly1918=) c.1269G>C (p.Gly423=) n.6210G>C n.1043G>C c.6318G>C (p.Gly2106=) n.6024G>C c.6627G>C (p.Gly2209=) c.5820G>C (p.Gly1940=) c.2121G>C (p.Gly707=) c.6207G>C (p.Gly2069=) c.5571G>C (p.Gly1857=) c.2361G>C (p.Gly787=) | |
| 5 | g.177293995G>T | CA447961529 | NSD1 | c.5754G>T (p.Gly1918=) c.1269G>T (p.Gly423=) n.6210G>T n.1043G>T c.6318G>T (p.Gly2106=) n.6024G>T c.6627G>T (p.Gly2209=) c.5820G>T (p.Gly1940=) c.2121G>T (p.Gly707=) c.6207G>T (p.Gly2069=) c.5571G>T (p.Gly1857=) c.2361G>T (p.Gly787=) | |
| 5 | g.177293995_177294010delinsGCCCAATCCTCTGGAA | CA1603535569 | NSD1 | c.5754_5769delinsGCCCAATCCTCTGGAA (p.Gly1918=) c.1269_1284delinsGCCCAATCCTCTGGAA (p.Gly423=) n.6210_6225delinsGCCCAATCCTCTGGAA n.1043_1058delinsGCCCAATCCTCTGGAA c.6318_6333delinsGCCCAATCCTCTGGAA (p.Gly2106=) n.6024_6039delinsGCCCAATCCTCTGGAA c.6627_6642delinsGCCCAATCCTCTGGAA (p.Gly2209=) c.5820_5835delinsGCCCAATCCTCTGGAA (p.Gly1940=) c.2121_2136delinsGCCCAATCCTCTGGAA (p.Gly707=) c.6207_6222delinsGCCCAATCCTCTGGAA (p.Gly2069=) c.5571_5586delinsGCCCAATCCTCTGGAA (p.Gly1857=) c.2361_2376delinsGCCCAATCCTCTGGAA (p.Gly787=) | |
| 5 | g.177293996C>A | CA362324459 | NSD1 | c.5755C>A (p.Pro1919Thr) c.1270C>A (p.Pro424Thr) n.6211C>A n.1044C>A c.6319C>A (p.Pro2107Thr) n.6025C>A c.6628C>A (p.Pro2210Thr) c.5821C>A (p.Pro1941Thr) c.2122C>A (p.Pro708Thr) c.6208C>A (p.Pro2070Thr) c.5572C>A (p.Pro1858Thr) c.2362C>A (p.Pro788Thr) | |
| 5 | g.177293996C= | CA1603535580 | NSD1 | c.5755C= (p.Pro1919=) c.1270C= (p.Pro424=) n.6211C= n.1044C= c.6319C= (p.Pro2107=) n.6025C= c.6628C= (p.Pro2210=) c.5821C= (p.Pro1941=) c.2122C= (p.Pro708=) c.6208C= (p.Pro2070=) c.5572C= (p.Pro1858=) c.2362C= (p.Pro788=) | |
| 5 | g.177293996C>G | CA132862466 | NSD1 | c.5755C>G (p.Pro1919Ala) c.1270C>G (p.Pro424Ala) n.6211C>G n.1044C>G c.6319C>G (p.Pro2107Ala) n.6025C>G c.6628C>G (p.Pro2210Ala) c.5821C>G (p.Pro1941Ala) c.2122C>G (p.Pro708Ala) c.6208C>G (p.Pro2070Ala) c.5572C>G (p.Pro1858Ala) c.2362C>G (p.Pro788Ala) | dbSNP gnomAD v4 |
| 5 | g.177293996C>T | CA362324463 | NSD1 | c.5755C>T (p.Pro1919Ser) c.1270C>T (p.Pro424Ser) n.6211C>T n.1044C>T c.6319C>T (p.Pro2107Ser) n.6025C>T c.6628C>T (p.Pro2210Ser) c.5821C>T (p.Pro1941Ser) c.2122C>T (p.Pro708Ser) c.6208C>T (p.Pro2070Ser) c.5572C>T (p.Pro1858Ser) c.2362C>T (p.Pro788Ser) | dbSNP |
| 5 | g.177293998_177294012del | CA295108 | NSD1 | c.5757_5771del (p.Asn1920_Pro1924del) c.1272_1286del (p.Asn425_Pro429del) n.6213_6227del n.1046_1060del c.6321_6335del (p.Asn2108_Pro2112del) n.6027_6041del c.6630_6644del (p.Asn2211_Pro2215del) c.5823_5837del (p.Asn1942_Pro1946del) c.2124_2138del (p.Asn709_Pro713del) c.6210_6224del (p.Asn2071_Pro2075del) c.5574_5588del (p.Asn1859_Pro1863del) c.2364_2378del (p.Asn789_Pro793del) | ClinVar dbSNP |
| 5 | g.177293997C>A | CA362324468 | NSD1 | c.5756C>A (p.Pro1919His) c.1271C>A (p.Pro424His) n.6212C>A n.1045C>A c.6320C>A (p.Pro2107His) n.6026C>A c.6629C>A (p.Pro2210His) c.5822C>A (p.Pro1941His) c.2123C>A (p.Pro708His) c.6209C>A (p.Pro2070His) c.5573C>A (p.Pro1858His) c.2363C>A (p.Pro788His) | |
| 5 | g.177293997C>G | CA362324471 | NSD1 | c.5756C>G (p.Pro1919Arg) c.1271C>G (p.Pro424Arg) n.6212C>G n.1045C>G c.6320C>G (p.Pro2107Arg) n.6026C>G c.6629C>G (p.Pro2210Arg) c.5822C>G (p.Pro1941Arg) c.2123C>G (p.Pro708Arg) c.6209C>G (p.Pro2070Arg) c.5573C>G (p.Pro1858Arg) c.2363C>G (p.Pro788Arg) | |
| 5 | g.177293997C>T | CA362324474 | NSD1 | c.5756C>T (p.Pro1919Leu) c.1271C>T (p.Pro424Leu) n.6212C>T n.1045C>T c.6320C>T (p.Pro2107Leu) n.6026C>T c.6629C>T (p.Pro2210Leu) c.5822C>T (p.Pro1941Leu) c.2123C>T (p.Pro708Leu) c.6209C>T (p.Pro2070Leu) c.5573C>T (p.Pro1858Leu) c.2363C>T (p.Pro788Leu) | |
| 5 | g.177293998C>A | CA447961533 | NSD1 | c.5757C>A (p.Pro1919=) c.1272C>A (p.Pro424=) n.6213C>A n.1046C>A c.6321C>A (p.Pro2107=) n.6027C>A c.6630C>A (p.Pro2210=) c.5823C>A (p.Pro1941=) c.2124C>A (p.Pro708=) c.6210C>A (p.Pro2070=) c.5574C>A (p.Pro1858=) c.2364C>A (p.Pro788=) | |
| 5 | g.177293998C>G | CA447961534 | NSD1 | c.5757C>G (p.Pro1919=) c.1272C>G (p.Pro424=) n.6213C>G n.1046C>G c.6321C>G (p.Pro2107=) n.6027C>G c.6630C>G (p.Pro2210=) c.5823C>G (p.Pro1941=) c.2124C>G (p.Pro708=) c.6210C>G (p.Pro2070=) c.5574C>G (p.Pro1858=) c.2364C>G (p.Pro788=) | |
| 5 | g.177293998C>T | CA447961535 | NSD1 | c.5757C>T (p.Pro1919=) c.1272C>T (p.Pro424=) n.6213C>T n.1046C>T c.6321C>T (p.Pro2107=) n.6027C>T c.6630C>T (p.Pro2210=) c.5823C>T (p.Pro1941=) c.2124C>T (p.Pro708=) c.6210C>T (p.Pro2070=) c.5574C>T (p.Pro1858=) c.2364C>T (p.Pro788=) | |
| 5 | g.177293999A>C | CA362324475 | NSD1 | c.5758A>C (p.Asn1920His) c.1273A>C (p.Asn425His) n.6214A>C n.1047A>C c.6322A>C (p.Asn2108His) n.6028A>C c.6631A>C (p.Asn2211His) c.5824A>C (p.Asn1942His) c.2125A>C (p.Asn709His) c.6211A>C (p.Asn2071His) c.5575A>C (p.Asn1859His) c.2365A>C (p.Asn789His) | |
| 5 | g.177293999A>G | CA362324478 | NSD1 | c.5758A>G (p.Asn1920Asp) c.1273A>G (p.Asn425Asp) n.6214A>G n.1047A>G c.6322A>G (p.Asn2108Asp) n.6028A>G c.6631A>G (p.Asn2211Asp) c.5824A>G (p.Asn1942Asp) c.2125A>G (p.Asn709Asp) c.6211A>G (p.Asn2071Asp) c.5575A>G (p.Asn1859Asp) c.2365A>G (p.Asn789Asp) | |
| 5 | g.177293999A>T | CA362324480 | NSD1 | c.5758A>T (p.Asn1920Tyr) c.1273A>T (p.Asn425Tyr) n.6214A>T n.1047A>T c.6322A>T (p.Asn2108Tyr) n.6028A>T c.6631A>T (p.Asn2211Tyr) c.5824A>T (p.Asn1942Tyr) c.2125A>T (p.Asn709Tyr) c.6211A>T (p.Asn2071Tyr) c.5575A>T (p.Asn1859Tyr) c.2365A>T (p.Asn789Tyr) | |
| 5 | g.177294000A>C | CA362324490 | NSD1 | c.5759A>C (p.Asn1920Thr) c.1274A>C (p.Asn425Thr) n.6215A>C n.1048A>C c.6323A>C (p.Asn2108Thr) n.6029A>C c.6632A>C (p.Asn2211Thr) c.5825A>C (p.Asn1942Thr) c.2126A>C (p.Asn709Thr) c.6212A>C (p.Asn2071Thr) c.5576A>C (p.Asn1859Thr) c.2366A>C (p.Asn789Thr) | |
| 5 | g.177294000A>G | CA362324486 | NSD1 | c.5759A>G (p.Asn1920Ser) c.1274A>G (p.Asn425Ser) n.6215A>G n.1048A>G c.6323A>G (p.Asn2108Ser) n.6029A>G c.6632A>G (p.Asn2211Ser) c.5825A>G (p.Asn1942Ser) c.2126A>G (p.Asn709Ser) c.6212A>G (p.Asn2071Ser) c.5576A>G (p.Asn1859Ser) c.2366A>G (p.Asn789Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177294000A>T | CA362324484 | NSD1 | c.5759A>T (p.Asn1920Ile) c.1274A>T (p.Asn425Ile) n.6215A>T n.1048A>T c.6323A>T (p.Asn2108Ile) n.6029A>T c.6632A>T (p.Asn2211Ile) c.5825A>T (p.Asn1942Ile) c.2126A>T (p.Asn709Ile) c.6212A>T (p.Asn2071Ile) c.5576A>T (p.Asn1859Ile) c.2366A>T (p.Asn789Ile) | gnomAD v4 |
| 5 | g.177294001T>A | CA362324494 | NSD1 | c.5760T>A (p.Asn1920Lys) c.1275T>A (p.Asn425Lys) n.6216T>A n.1049T>A c.6324T>A (p.Asn2108Lys) n.6030T>A c.6633T>A (p.Asn2211Lys) c.5826T>A (p.Asn1942Lys) c.2127T>A (p.Asn709Lys) c.6213T>A (p.Asn2071Lys) c.5577T>A (p.Asn1859Lys) c.2367T>A (p.Asn789Lys) | |
| 5 | g.177294001T>C | CA447961582 | NSD1 | c.5760T>C (p.Asn1920=) c.1275T>C (p.Asn425=) n.6216T>C n.1049T>C c.6324T>C (p.Asn2108=) n.6030T>C c.6633T>C (p.Asn2211=) c.5826T>C (p.Asn1942=) c.2127T>C (p.Asn709=) c.6213T>C (p.Asn2071=) c.5577T>C (p.Asn1859=) c.2367T>C (p.Asn789=) | |
| 5 | g.177294001T>G | CA362324496 | NSD1 | c.5760T>G (p.Asn1920Lys) c.1275T>G (p.Asn425Lys) n.6216T>G n.1049T>G c.6324T>G (p.Asn2108Lys) n.6030T>G c.6633T>G (p.Asn2211Lys) c.5826T>G (p.Asn1942Lys) c.2127T>G (p.Asn709Lys) c.6213T>G (p.Asn2071Lys) c.5577T>G (p.Asn1859Lys) c.2367T>G (p.Asn789Lys) | |
| 5 | g.177294002C>A | CA362324499 | NSD1 | c.5761C>A (p.Pro1921Thr) c.1276C>A (p.Pro426Thr) n.6217C>A n.1050C>A c.6325C>A (p.Pro2109Thr) n.6031C>A c.6634C>A (p.Pro2212Thr) c.5827C>A (p.Pro1943Thr) c.2128C>A (p.Pro710Thr) c.6214C>A (p.Pro2072Thr) c.5578C>A (p.Pro1860Thr) c.2368C>A (p.Pro790Thr) | |
| 5 | g.177294002C>G | CA362324502 | NSD1 | c.5761C>G (p.Pro1921Ala) c.1276C>G (p.Pro426Ala) n.6217C>G n.1050C>G c.6325C>G (p.Pro2109Ala) n.6031C>G c.6634C>G (p.Pro2212Ala) c.5827C>G (p.Pro1943Ala) c.2128C>G (p.Pro710Ala) c.6214C>G (p.Pro2072Ala) c.5578C>G (p.Pro1860Ala) c.2368C>G (p.Pro790Ala) | |
| 5 | g.177294002C>T | CA362324506 | NSD1 | c.5761C>T (p.Pro1921Ser) c.1276C>T (p.Pro426Ser) n.6217C>T n.1050C>T c.6325C>T (p.Pro2109Ser) n.6031C>T c.6634C>T (p.Pro2212Ser) c.5827C>T (p.Pro1943Ser) c.2128C>T (p.Pro710Ser) c.6214C>T (p.Pro2072Ser) c.5578C>T (p.Pro1860Ser) c.2368C>T (p.Pro790Ser) | ClinVar |
| 5 | g.177294003C>A | CA362324516 | NSD1 | c.5762C>A (p.Pro1921His) c.1277C>A (p.Pro426His) n.6218C>A n.1051C>A c.6326C>A (p.Pro2109His) n.6032C>A c.6635C>A (p.Pro2212His) c.5828C>A (p.Pro1943His) c.2129C>A (p.Pro710His) c.6215C>A (p.Pro2072His) c.5579C>A (p.Pro1860His) c.2369C>A (p.Pro790His) | dbSNP |
| 5 | g.177294003C>G | CA362324513 | NSD1 | c.5762C>G (p.Pro1921Arg) c.1277C>G (p.Pro426Arg) n.6218C>G n.1051C>G c.6326C>G (p.Pro2109Arg) n.6032C>G c.6635C>G (p.Pro2212Arg) c.5828C>G (p.Pro1943Arg) c.2129C>G (p.Pro710Arg) c.6215C>G (p.Pro2072Arg) c.5579C>G (p.Pro1860Arg) c.2369C>G (p.Pro790Arg) | |
| 5 | g.177294003C>T | CA362324511 | NSD1 | c.5762C>T (p.Pro1921Leu) c.1277C>T (p.Pro426Leu) n.6218C>T n.1051C>T c.6326C>T (p.Pro2109Leu) n.6032C>T c.6635C>T (p.Pro2212Leu) c.5828C>T (p.Pro1943Leu) c.2129C>T (p.Pro710Leu) c.6215C>T (p.Pro2072Leu) c.5579C>T (p.Pro1860Leu) c.2369C>T (p.Pro790Leu) | COSMIC COSMIC |
| 5 | g.177294004T>A | CA447961584 | NSD1 | c.5763T>A (p.Pro1921=) c.1278T>A (p.Pro426=) n.6219T>A n.1052T>A c.6327T>A (p.Pro2109=) n.6033T>A c.6636T>A (p.Pro2212=) c.5829T>A (p.Pro1943=) c.2130T>A (p.Pro710=) c.6216T>A (p.Pro2072=) c.5580T>A (p.Pro1860=) c.2370T>A (p.Pro790=) | |
| 5 | g.177294004T>C | CA3578022 | NSD1 | c.5763T>C (p.Pro1921=) c.1278T>C (p.Pro426=) n.6219T>C n.1052T>C c.6327T>C (p.Pro2109=) n.6033T>C c.6636T>C (p.Pro2212=) c.5829T>C (p.Pro1943=) c.2130T>C (p.Pro710=) c.6216T>C (p.Pro2072=) c.5580T>C (p.Pro1860=) c.2370T>C (p.Pro790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177294004T>G | CA447961585 | NSD1 | c.5763T>G (p.Pro1921=) c.1278T>G (p.Pro426=) n.6219T>G n.1052T>G c.6327T>G (p.Pro2109=) n.6033T>G c.6636T>G (p.Pro2212=) c.5829T>G (p.Pro1943=) c.2130T>G (p.Pro710=) c.6216T>G (p.Pro2072=) c.5580T>G (p.Pro1860=) c.2370T>G (p.Pro790=) | |
| 5 | g.177294004T= | CA1603535585 | NSD1 | c.5763T= (p.Pro1921=) c.1278T= (p.Pro426=) n.6219T= n.1052T= c.6327T= (p.Pro2109=) n.6033T= c.6636T= (p.Pro2212=) c.5829T= (p.Pro1943=) c.2130T= (p.Pro710=) c.6216T= (p.Pro2072=) c.5580T= (p.Pro1860=) c.2370T= (p.Pro790=) | |
| 5 | g.177294005C>A | CA362324522 | NSD1 | c.5764C>A (p.Leu1922Met) c.1279C>A (p.Leu427Met) n.6220C>A n.1053C>A c.6328C>A (p.Leu2110Met) n.6034C>A c.6637C>A (p.Leu2213Met) c.5830C>A (p.Leu1944Met) c.2131C>A (p.Leu711Met) c.6217C>A (p.Leu2073Met) c.5581C>A (p.Leu1861Met) c.2371C>A (p.Leu791Met) | |
| 5 | g.177294005C= | CA1603535591 | NSD1 | c.5764C= (p.Leu1922=) c.1279C= (p.Leu427=) n.6220C= n.1053C= c.6328C= (p.Leu2110=) n.6034C= c.6637C= (p.Leu2213=) c.5830C= (p.Leu1944=) c.2131C= (p.Leu711=) c.6217C= (p.Leu2073=) c.5581C= (p.Leu1861=) c.2371C= (p.Leu791=) | |
| 5 | g.177294005C>G | CA295111 | NSD1 | c.5764C>G (p.Leu1922Val) c.1279C>G (p.Leu427Val) n.6220C>G n.1053C>G c.6328C>G (p.Leu2110Val) n.6034C>G c.6637C>G (p.Leu2213Val) c.5830C>G (p.Leu1944Val) c.2131C>G (p.Leu711Val) c.6217C>G (p.Leu2073Val) c.5581C>G (p.Leu1861Val) c.2371C>G (p.Leu791Val) | ClinVar dbSNP |
| 5 | g.177294005C>T | CA447961589 | NSD1 | c.5764C>T (p.Leu1922=) c.1279C>T (p.Leu427=) n.6220C>T n.1053C>T c.6328C>T (p.Leu2110=) n.6034C>T c.6637C>T (p.Leu2213=) c.5830C>T (p.Leu1944=) c.2131C>T (p.Leu711=) c.6217C>T (p.Leu2073=) c.5581C>T (p.Leu1861=) c.2371C>T (p.Leu791=) | |
| 5 | g.177294006T>A | CA362324528 | NSD1 | c.5765T>A (p.Leu1922Gln) c.1280T>A (p.Leu427Gln) n.6221T>A n.1054T>A c.6329T>A (p.Leu2110Gln) n.6035T>A c.6638T>A (p.Leu2213Gln) c.5831T>A (p.Leu1944Gln) c.2132T>A (p.Leu711Gln) c.6218T>A (p.Leu2073Gln) c.5582T>A (p.Leu1861Gln) c.2372T>A (p.Leu791Gln) | |
| 5 | g.177294006T>C | CA362324530 | NSD1 | c.5765T>C (p.Leu1922Pro) c.1280T>C (p.Leu427Pro) n.6221T>C n.1054T>C c.6329T>C (p.Leu2110Pro) n.6035T>C c.6638T>C (p.Leu2213Pro) c.5831T>C (p.Leu1944Pro) c.2132T>C (p.Leu711Pro) c.6218T>C (p.Leu2073Pro) c.5582T>C (p.Leu1861Pro) c.2372T>C (p.Leu791Pro) | |
| 5 | g.177294006T>G | CA362324534 | NSD1 | c.5765T>G (p.Leu1922Arg) c.1280T>G (p.Leu427Arg) n.6221T>G n.1054T>G c.6329T>G (p.Leu2110Arg) n.6035T>G c.6638T>G (p.Leu2213Arg) c.5831T>G (p.Leu1944Arg) c.2132T>G (p.Leu711Arg) c.6218T>G (p.Leu2073Arg) c.5582T>G (p.Leu1861Arg) c.2372T>G (p.Leu791Arg) | |
| 5 | g.177294006_177294007del | CA2695195477 | NSD1 | c.5765_5766del (p.Leu1922ArgfsTer7) c.1280_1281del (p.Leu427ArgfsTer7) n.6221_6222del n.1054_1055del c.6329_6330del (p.Leu2110ArgfsTer7) n.6035_6036del c.6638_6639del (p.Leu2213ArgfsTer7) c.5831_5832del (p.Leu1944ArgfsTer7) c.2132_2133del (p.Leu711ArgfsTer7) c.6218_6219del (p.Leu2073ArgfsTer7) c.5582_5583del (p.Leu1861ArgfsTer7) c.2372_2373del (p.Leu791ArgfsTer7) | |
| 5 | g.177294007G>A | CA447961591 | NSD1 | c.5766G>A (p.Leu1922=) c.1281G>A (p.Leu427=) n.6222G>A n.1055G>A c.6330G>A (p.Leu2110=) n.6036G>A c.6639G>A (p.Leu2213=) c.5832G>A (p.Leu1944=) c.2133G>A (p.Leu711=) c.6219G>A (p.Leu2073=) c.5583G>A (p.Leu1861=) c.2373G>A (p.Leu791=) | |
| 5 | g.177294007G>C | CA447961592 | NSD1 | c.5766G>C (p.Leu1922=) c.1281G>C (p.Leu427=) n.6222G>C n.1055G>C c.6330G>C (p.Leu2110=) n.6036G>C c.6639G>C (p.Leu2213=) c.5832G>C (p.Leu1944=) c.2133G>C (p.Leu711=) c.6219G>C (p.Leu2073=) c.5583G>C (p.Leu1861=) c.2373G>C (p.Leu791=) | |
| 5 | g.177294007G>T | CA447961594 | NSD1 | c.5766G>T (p.Leu1922=) c.1281G>T (p.Leu427=) n.6222G>T n.1055G>T c.6330G>T (p.Leu2110=) n.6036G>T c.6639G>T (p.Leu2213=) c.5832G>T (p.Leu1944=) c.2133G>T (p.Leu711=) c.6219G>T (p.Leu2073=) c.5583G>T (p.Leu1861=) c.2373G>T (p.Leu791=) | |
| 5 | g.177294008G>A | CA295114 | NSD1 | c.5767G>A (p.Glu1923Lys) c.1282G>A (p.Glu428Lys) n.6223G>A n.1056G>A c.6331G>A (p.Glu2111Lys) n.6037G>A c.6640G>A (p.Glu2214Lys) c.5833G>A (p.Glu1945Lys) c.2134G>A (p.Glu712Lys) c.6220G>A (p.Glu2074Lys) c.5584G>A (p.Glu1862Lys) c.2374G>A (p.Glu792Lys) | ClinVar dbSNP |
| 5 | g.177294008G>C | CA362324540 | NSD1 | c.5767G>C (p.Glu1923Gln) c.1282G>C (p.Glu428Gln) n.6223G>C n.1056G>C c.6331G>C (p.Glu2111Gln) n.6037G>C c.6640G>C (p.Glu2214Gln) c.5833G>C (p.Glu1945Gln) c.2134G>C (p.Glu712Gln) c.6220G>C (p.Glu2074Gln) c.5584G>C (p.Glu1862Gln) c.2374G>C (p.Glu792Gln) | dbSNP |
| 5 | g.177294008G= | CA1603535597 | NSD1 | c.5767G= (p.Glu1923=) c.1282G= (p.Glu428=) n.6223G= n.1056G= c.6331G= (p.Glu2111=) n.6037G= c.6640G= (p.Glu2214=) c.5833G= (p.Glu1945=) c.2134G= (p.Glu712=) c.6220G= (p.Glu2074=) c.5584G= (p.Glu1862=) c.2374G= (p.Glu792=) | |
| 5 | g.177294008G>T | CA362324539 | NSD1 | c.5767G>T (p.Glu1923Ter) c.1282G>T (p.Glu428Ter) n.6223G>T n.1056G>T c.6331G>T (p.Glu2111Ter) n.6037G>T c.6640G>T (p.Glu2214Ter) c.5833G>T (p.Glu1945Ter) c.2134G>T (p.Glu712Ter) c.6220G>T (p.Glu2074Ter) c.5584G>T (p.Glu1862Ter) c.2374G>T (p.Glu792Ter) | |
| 5 | g.177294009A>C | CA362324544 | NSD1 | c.5768A>C (p.Glu1923Ala) c.1283A>C (p.Glu428Ala) n.6224A>C n.1057A>C c.6332A>C (p.Glu2111Ala) n.6038A>C c.6641A>C (p.Glu2214Ala) c.5834A>C (p.Glu1945Ala) c.2135A>C (p.Glu712Ala) c.6221A>C (p.Glu2074Ala) c.5585A>C (p.Glu1862Ala) c.2375A>C (p.Glu792Ala) | |
| 5 | g.177294009A>G | CA362324547 | NSD1 | c.5768A>G (p.Glu1923Gly) c.1283A>G (p.Glu428Gly) n.6224A>G n.1057A>G c.6332A>G (p.Glu2111Gly) n.6038A>G c.6641A>G (p.Glu2214Gly) c.5834A>G (p.Glu1945Gly) c.2135A>G (p.Glu712Gly) c.6221A>G (p.Glu2074Gly) c.5585A>G (p.Glu1862Gly) c.2375A>G (p.Glu792Gly) | |
| 5 | g.177294009A>T | CA362324551 | NSD1 | c.5768A>T (p.Glu1923Val) c.1283A>T (p.Glu428Val) n.6224A>T n.1057A>T c.6332A>T (p.Glu2111Val) n.6038A>T c.6641A>T (p.Glu2214Val) c.5834A>T (p.Glu1945Val) c.2135A>T (p.Glu712Val) c.6221A>T (p.Glu2074Val) c.5585A>T (p.Glu1862Val) c.2375A>T (p.Glu792Val) | |
| 5 | g.177294010A>C | CA362324555 | NSD1 | c.5769A>C (p.Glu1923Asp) c.1284A>C (p.Glu428Asp) n.6225A>C n.1058A>C c.6333A>C (p.Glu2111Asp) n.6039A>C c.6642A>C (p.Glu2214Asp) c.5835A>C (p.Glu1945Asp) c.2136A>C (p.Glu712Asp) c.6222A>C (p.Glu2074Asp) c.5586A>C (p.Glu1862Asp) c.2376A>C (p.Glu792Asp) | |
| 5 | g.177294010A>G | CA447961597 | NSD1 | c.5769A>G (p.Glu1923=) c.1284A>G (p.Glu428=) n.6225A>G n.1058A>G c.6333A>G (p.Glu2111=) n.6039A>G c.6642A>G (p.Glu2214=) c.5835A>G (p.Glu1945=) c.2136A>G (p.Glu712=) c.6222A>G (p.Glu2074=) c.5586A>G (p.Glu1862=) c.2376A>G (p.Glu792=) | |
| 5 | g.177294010A>T | CA362324557 | NSD1 | c.5769A>T (p.Glu1923Asp) c.1284A>T (p.Glu428Asp) n.6225A>T n.1058A>T c.6333A>T (p.Glu2111Asp) n.6039A>T c.6642A>T (p.Glu2214Asp) c.5835A>T (p.Glu1945Asp) c.2136A>T (p.Glu712Asp) c.6222A>T (p.Glu2074Asp) c.5586A>T (p.Glu1862Asp) c.2376A>T (p.Glu792Asp) | |
| 5 | g.177294010_177294012delinsACC | CA1603535603 | NSD1 | c.5769_5771delinsACC (p.Glu1923=) c.1284_1286delinsACC (p.Glu428=) n.6225_6227delinsACC n.1058_1060delinsACC c.6333_6335delinsACC (p.Glu2111=) n.6039_6041delinsACC c.6642_6644delinsACC (p.Glu2214=) c.5835_5837delinsACC (p.Glu1945=) c.2136_2138delinsACC (p.Glu712=) c.6222_6224delinsACC (p.Glu2074=) c.5586_5588delinsACC (p.Glu1862=) c.2376_2378delinsACC (p.Glu792=) | |
| 5 | g.177294011C>A | CA362324562 | NSD1 | c.5770C>A (p.Pro1924Thr) c.1285C>A (p.Pro429Thr) n.6226C>A n.1059C>A c.6334C>A (p.Pro2112Thr) n.6040C>A c.6643C>A (p.Pro2215Thr) c.5836C>A (p.Pro1946Thr) c.2137C>A (p.Pro713Thr) c.6223C>A (p.Pro2075Thr) c.5587C>A (p.Pro1863Thr) c.2377C>A (p.Pro793Thr) | |
| 5 | g.177294011C>G | CA362324566 | NSD1 | c.5770C>G (p.Pro1924Ala) c.1285C>G (p.Pro429Ala) n.6226C>G n.1059C>G c.6334C>G (p.Pro2112Ala) n.6040C>G c.6643C>G (p.Pro2215Ala) c.5836C>G (p.Pro1946Ala) c.2137C>G (p.Pro713Ala) c.6223C>G (p.Pro2075Ala) c.5587C>G (p.Pro1863Ala) c.2377C>G (p.Pro793Ala) | |
| 5 | g.177294011C>T | CA362324568 | NSD1 | c.5770C>T (p.Pro1924Ser) c.1285C>T (p.Pro429Ser) n.6226C>T n.1059C>T c.6334C>T (p.Pro2112Ser) n.6040C>T c.6643C>T (p.Pro2215Ser) c.5836C>T (p.Pro1946Ser) c.2137C>T (p.Pro713Ser) c.6223C>T (p.Pro2075Ser) c.5587C>T (p.Pro1863Ser) c.2377C>T (p.Pro793Ser) | dbSNP |
| 5 | g.177294011_177294012delinsGAT | CA658796688 | NSD1 | c.5770_5771delinsGAT (p.Pro1924AspfsTer6) c.1285_1286delinsGAT (p.Pro429AspfsTer6) n.6226_6227delinsGAT n.1059_1060delinsGAT c.6334_6335delinsGAT (p.Pro2112AspfsTer6) n.6040_6041delinsGAT c.6643_6644delinsGAT (p.Pro2215AspfsTer6) c.5836_5837delinsGAT (p.Pro1946AspfsTer6) c.2137_2138delinsGAT (p.Pro713AspfsTer6) c.6223_6224delinsGAT (p.Pro2075AspfsTer6) c.5587_5588delinsGAT (p.Pro1863AspfsTer6) c.2377_2378delinsGAT (p.Pro793AspfsTer6) | ClinVar dbSNP |
| 5 | g.177294012C>A | CA362324573 | NSD1 | c.5771C>A (p.Pro1924His) c.1286C>A (p.Pro429His) n.6227C>A n.1060C>A c.6335C>A (p.Pro2112His) n.6041C>A c.6644C>A (p.Pro2215His) c.5837C>A (p.Pro1946His) c.2138C>A (p.Pro713His) c.6224C>A (p.Pro2075His) c.5588C>A (p.Pro1863His) c.2378C>A (p.Pro793His) | |
| 5 | g.177294012C>G | CA362324575 | NSD1 | c.5771C>G (p.Pro1924Arg) c.1286C>G (p.Pro429Arg) n.6227C>G n.1060C>G c.6335C>G (p.Pro2112Arg) n.6041C>G c.6644C>G (p.Pro2215Arg) c.5837C>G (p.Pro1946Arg) c.2138C>G (p.Pro713Arg) c.6224C>G (p.Pro2075Arg) c.5588C>G (p.Pro1863Arg) c.2378C>G (p.Pro793Arg) | |
| 5 | g.177294012C>T | CA362324577 | NSD1 | c.5771C>T (p.Pro1924Leu) c.1286C>T (p.Pro429Leu) n.6227C>T n.1060C>T c.6335C>T (p.Pro2112Leu) n.6041C>T c.6644C>T (p.Pro2215Leu) c.5837C>T (p.Pro1946Leu) c.2138C>T (p.Pro713Leu) c.6224C>T (p.Pro2075Leu) c.5588C>T (p.Pro1863Leu) c.2378C>T (p.Pro793Leu) | |
| 5 | g.177294013T>A | CA447961600 | NSD1 | c.5772T>A (p.Pro1924=) c.1287T>A (p.Pro429=) n.6228T>A n.1061T>A c.6336T>A (p.Pro2112=) n.6042T>A c.6645T>A (p.Pro2215=) c.5838T>A (p.Pro1946=) c.2139T>A (p.Pro713=) c.6225T>A (p.Pro2075=) c.5589T>A (p.Pro1863=) c.2379T>A (p.Pro793=) | |
| 5 | g.177294013T>C | CA447961601 | NSD1 | c.5772T>C (p.Pro1924=) c.1287T>C (p.Pro429=) n.6228T>C n.1061T>C c.6336T>C (p.Pro2112=) n.6042T>C c.6645T>C (p.Pro2215=) c.5838T>C (p.Pro1946=) c.2139T>C (p.Pro713=) c.6225T>C (p.Pro2075=) c.5589T>C (p.Pro1863=) c.2379T>C (p.Pro793=) | |
| 5 | g.177294013T>G | CA447961603 | NSD1 | c.5772T>G (p.Pro1924=) c.1287T>G (p.Pro429=) n.6228T>G n.1061T>G c.6336T>G (p.Pro2112=) n.6042T>G c.6645T>G (p.Pro2215=) c.5838T>G (p.Pro1946=) c.2139T>G (p.Pro713=) c.6225T>G (p.Pro2075=) c.5589T>G (p.Pro1863=) c.2379T>G (p.Pro793=) | |
| 5 | g.177294014G>A | CA362324583 | NSD1 | c.5773G>A (p.Gly1925Arg) c.1288G>A (p.Gly430Arg) n.6229G>A n.1062G>A c.6337G>A (p.Gly2113Arg) n.6043G>A c.6646G>A (p.Gly2216Arg) c.5839G>A (p.Gly1947Arg) c.2140G>A (p.Gly714Arg) c.6226G>A (p.Gly2076Arg) c.5590G>A (p.Gly1864Arg) c.2380G>A (p.Gly794Arg) | |
| 5 | g.177294014G>C | CA362324589 | NSD1 | c.5773G>C (p.Gly1925Arg) c.1288G>C (p.Gly430Arg) n.6229G>C n.1062G>C c.6337G>C (p.Gly2113Arg) n.6043G>C c.6646G>C (p.Gly2216Arg) c.5839G>C (p.Gly1947Arg) c.2140G>C (p.Gly714Arg) c.6226G>C (p.Gly2076Arg) c.5590G>C (p.Gly1864Arg) c.2380G>C (p.Gly794Arg) | |
| 5 | g.177294014G>T | CA362324585 | NSD1 | c.5773G>T (p.Gly1925Trp) c.1288G>T (p.Gly430Trp) n.6229G>T n.1062G>T c.6337G>T (p.Gly2113Trp) n.6043G>T c.6646G>T (p.Gly2216Trp) c.5839G>T (p.Gly1947Trp) c.2140G>T (p.Gly714Trp) c.6226G>T (p.Gly2076Trp) c.5590G>T (p.Gly1864Trp) c.2380G>T (p.Gly794Trp) | |
| 5 | g.177294015G>A | CA362324593 | NSD1 | c.5774G>A (p.Gly1925Glu) c.1289G>A (p.Gly430Glu) n.6230G>A n.1063G>A c.6338G>A (p.Gly2113Glu) n.6044G>A c.6647G>A (p.Gly2216Glu) c.5840G>A (p.Gly1947Glu) c.2141G>A (p.Gly714Glu) c.6227G>A (p.Gly2076Glu) c.5591G>A (p.Gly1864Glu) c.2381G>A (p.Gly794Glu) | ClinVar dbSNP |
| 5 | g.177294015G>C | CA362324608 | NSD1 | c.5774G>C (p.Gly1925Ala) c.1289G>C (p.Gly430Ala) n.6230G>C n.1063G>C c.6338G>C (p.Gly2113Ala) n.6044G>C c.6647G>C (p.Gly2216Ala) c.5840G>C (p.Gly1947Ala) c.2141G>C (p.Gly714Ala) c.6227G>C (p.Gly2076Ala) c.5591G>C (p.Gly1864Ala) c.2381G>C (p.Gly794Ala) | |
| 5 | g.177294015G= | CA1603535611 | NSD1 | c.5774G= (p.Gly1925=) c.1289G= (p.Gly430=) n.6230G= n.1063G= c.6338G= (p.Gly2113=) n.6044G= c.6647G= (p.Gly2216=) c.5840G= (p.Gly1947=) c.2141G= (p.Gly714=) c.6227G= (p.Gly2076=) c.5591G= (p.Gly1864=) c.2381G= (p.Gly794=) | |
| 5 | g.177294015G>T | CA362324606 | NSD1 | c.5774G>T (p.Gly1925Val) c.1289G>T (p.Gly430Val) n.6230G>T n.1063G>T c.6338G>T (p.Gly2113Val) n.6044G>T c.6647G>T (p.Gly2216Val) c.5840G>T (p.Gly1947Val) c.2141G>T (p.Gly714Val) c.6227G>T (p.Gly2076Val) c.5591G>T (p.Gly1864Val) c.2381G>T (p.Gly794Val) | |
| 5 | g.177294016G>A | CA447961604 | NSD1 | c.5775G>A (p.Gly1925=) c.1290G>A (p.Gly430=) n.6231G>A n.1064G>A c.6339G>A (p.Gly2113=) n.6045G>A c.6648G>A (p.Gly2216=) c.5841G>A (p.Gly1947=) c.2142G>A (p.Gly714=) c.6228G>A (p.Gly2076=) c.5592G>A (p.Gly1864=) c.2382G>A (p.Gly794=) | |
| 5 | g.177294016G>C | CA447961606 | NSD1 | c.5775G>C (p.Gly1925=) c.1290G>C (p.Gly430=) n.6231G>C n.1064G>C c.6339G>C (p.Gly2113=) n.6045G>C c.6648G>C (p.Gly2216=) c.5841G>C (p.Gly1947=) c.2142G>C (p.Gly714=) c.6228G>C (p.Gly2076=) c.5592G>C (p.Gly1864=) c.2382G>C (p.Gly794=) | |
| 5 | g.177294016G= | CA1603535617 | NSD1 | c.5775G= (p.Gly1925=) c.1290G= (p.Gly430=) n.6231G= n.1064G= c.6339G= (p.Gly2113=) n.6045G= c.6648G= (p.Gly2216=) c.5841G= (p.Gly1947=) c.2142G= (p.Gly714=) c.6228G= (p.Gly2076=) c.5592G= (p.Gly1864=) c.2382G= (p.Gly794=) | |
| 5 | g.177294016G>T | CA3578023 | NSD1 | c.5775G>T (p.Gly1925=) c.1290G>T (p.Gly430=) n.6231G>T n.1064G>T c.6339G>T (p.Gly2113=) n.6045G>T c.6648G>T (p.Gly2216=) c.5841G>T (p.Gly1947=) c.2142G>T (p.Gly714=) c.6228G>T (p.Gly2076=) c.5592G>T (p.Gly1864=) c.2382G>T (p.Gly794=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177294017G>A | CA362324623 | NSD1 | c.5776G>A (p.Glu1926Lys) c.1291G>A (p.Glu431Lys) n.6232G>A n.1065G>A c.6340G>A (p.Glu2114Lys) n.6046G>A c.6649G>A (p.Glu2217Lys) c.5842G>A (p.Glu1948Lys) c.2143G>A (p.Glu715Lys) c.6229G>A (p.Glu2077Lys) c.5593G>A (p.Glu1865Lys) c.2383G>A (p.Glu795Lys) | COSMIC COSMIC |
| 5 | g.177294017G>C | CA362324616 | NSD1 | c.5776G>C (p.Glu1926Gln) c.1291G>C (p.Glu431Gln) n.6232G>C n.1065G>C c.6340G>C (p.Glu2114Gln) n.6046G>C c.6649G>C (p.Glu2217Gln) c.5842G>C (p.Glu1948Gln) c.2143G>C (p.Glu715Gln) c.6229G>C (p.Glu2077Gln) c.5593G>C (p.Glu1865Gln) c.2383G>C (p.Glu795Gln) | |
| 5 | g.177294017G>T | CA362324621 | NSD1 | c.5776G>T (p.Glu1926Ter) c.1291G>T (p.Glu431Ter) n.6232G>T n.1065G>T c.6340G>T (p.Glu2114Ter) n.6046G>T c.6649G>T (p.Glu2217Ter) c.5842G>T (p.Glu1948Ter) c.2143G>T (p.Glu715Ter) c.6229G>T (p.Glu2077Ter) c.5593G>T (p.Glu1865Ter) c.2383G>T (p.Glu795Ter) | |
| 5 | g.177294018A>C | CA362324628 | NSD1 | c.5777A>C (p.Glu1926Ala) c.1292A>C (p.Glu431Ala) n.6233A>C n.1066A>C c.6341A>C (p.Glu2114Ala) n.6047A>C c.6650A>C (p.Glu2217Ala) c.5843A>C (p.Glu1948Ala) c.2144A>C (p.Glu715Ala) c.6230A>C (p.Glu2077Ala) c.5594A>C (p.Glu1865Ala) c.2384A>C (p.Glu795Ala) | |
| 5 | g.177294018A>G | CA362324630 | NSD1 | c.5777A>G (p.Glu1926Gly) c.1292A>G (p.Glu431Gly) n.6233A>G n.1066A>G c.6341A>G (p.Glu2114Gly) n.6047A>G c.6650A>G (p.Glu2217Gly) c.5843A>G (p.Glu1948Gly) c.2144A>G (p.Glu715Gly) c.6230A>G (p.Glu2077Gly) c.5594A>G (p.Glu1865Gly) c.2384A>G (p.Glu795Gly) | dbSNP |
| 5 | g.177294018A>T | CA362324634 | NSD1 | c.5777A>T (p.Glu1926Val) c.1292A>T (p.Glu431Val) n.6233A>T n.1066A>T c.6341A>T (p.Glu2114Val) n.6047A>T c.6650A>T (p.Glu2217Val) c.5843A>T (p.Glu1948Val) c.2144A>T (p.Glu715Val) c.6230A>T (p.Glu2077Val) c.5594A>T (p.Glu1865Val) c.2384A>T (p.Glu795Val) |