UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.177293915del | CA2711004485 | NSD1 | c.5674del (p.Cys1892ValfsTer?) c.1189del (p.Cys397ValfsTer?) n.6130del n.963del c.6238del (p.Cys2080ValfsTer?) n.5944del c.6547del (p.Cys2183ValfsTer?) c.5740del (p.Cys1914ValfsTer?) c.2041del (p.Cys681ValfsTer?) c.6127del (p.Cys2043ValfsTer?) c.5491del (p.Cys1831ValfsTer?) c.2281del (p.Cys761ValfsTer?) | dbSNP |
| 5 | g.177293913T>A | CA362323860 | NSD1 | c.5672T>A (p.Phe1891Tyr) c.1187T>A (p.Phe396Tyr) n.6128T>A n.961T>A c.6236T>A (p.Phe2079Tyr) n.5942T>A c.6545T>A (p.Phe2182Tyr) c.5738T>A (p.Phe1913Tyr) c.2039T>A (p.Phe680Tyr) c.6125T>A (p.Phe2042Tyr) c.5489T>A (p.Phe1830Tyr) c.2279T>A (p.Phe760Tyr) | |
| 5 | g.177293913T>C | CA362323862 | NSD1 | c.5672T>C (p.Phe1891Ser) c.1187T>C (p.Phe396Ser) n.6128T>C n.961T>C c.6236T>C (p.Phe2079Ser) n.5942T>C c.6545T>C (p.Phe2182Ser) c.5738T>C (p.Phe1913Ser) c.2039T>C (p.Phe680Ser) c.6125T>C (p.Phe2042Ser) c.5489T>C (p.Phe1830Ser) c.2279T>C (p.Phe760Ser) | |
| 5 | g.177293913T>G | CA362323867 | NSD1 | c.5672T>G (p.Phe1891Cys) c.1187T>G (p.Phe396Cys) n.6128T>G n.961T>G c.6236T>G (p.Phe2079Cys) n.5942T>G c.6545T>G (p.Phe2182Cys) c.5738T>G (p.Phe1913Cys) c.2039T>G (p.Phe680Cys) c.6125T>G (p.Phe2042Cys) c.5489T>G (p.Phe1830Cys) c.2279T>G (p.Phe760Cys) | |
| 5 | g.177293914T>A | CA362323873 | NSD1 | c.5673T>A (p.Phe1891Leu) c.1188T>A (p.Phe396Leu) n.6129T>A n.962T>A c.6237T>A (p.Phe2079Leu) n.5943T>A c.6546T>A (p.Phe2182Leu) c.5739T>A (p.Phe1913Leu) c.2040T>A (p.Phe680Leu) c.6126T>A (p.Phe2042Leu) c.5490T>A (p.Phe1830Leu) c.2280T>A (p.Phe760Leu) | |
| 5 | g.177293914T>C | CA447961356 | NSD1 | c.5673T>C (p.Phe1891=) c.1188T>C (p.Phe396=) n.6129T>C n.962T>C c.6237T>C (p.Phe2079=) n.5943T>C c.6546T>C (p.Phe2182=) c.5739T>C (p.Phe1913=) c.2040T>C (p.Phe680=) c.6126T>C (p.Phe2042=) c.5490T>C (p.Phe1830=) c.2280T>C (p.Phe760=) | |
| 5 | g.177293914T>G | CA362323870 | NSD1 | c.5673T>G (p.Phe1891Leu) c.1188T>G (p.Phe396Leu) n.6129T>G n.962T>G c.6237T>G (p.Phe2079Leu) n.5943T>G c.6546T>G (p.Phe2182Leu) c.5739T>G (p.Phe1913Leu) c.2040T>G (p.Phe680Leu) c.6126T>G (p.Phe2042Leu) c.5490T>G (p.Phe1830Leu) c.2280T>G (p.Phe760Leu) | |
| 5 | g.177293915T>A | CA362323877 | NSD1 | c.5674T>A (p.Cys1892Ser) c.1189T>A (p.Cys397Ser) n.6130T>A n.963T>A c.6238T>A (p.Cys2080Ser) n.5944T>A c.6547T>A (p.Cys2183Ser) c.5740T>A (p.Cys1914Ser) c.2041T>A (p.Cys681Ser) c.6127T>A (p.Cys2043Ser) c.5491T>A (p.Cys1831Ser) c.2281T>A (p.Cys761Ser) | ClinVar |
| 5 | g.177293915T>C | CA362323879 | NSD1 | c.5674T>C (p.Cys1892Arg) c.1189T>C (p.Cys397Arg) n.6130T>C n.963T>C c.6238T>C (p.Cys2080Arg) n.5944T>C c.6547T>C (p.Cys2183Arg) c.5740T>C (p.Cys1914Arg) c.2041T>C (p.Cys681Arg) c.6127T>C (p.Cys2043Arg) c.5491T>C (p.Cys1831Arg) c.2281T>C (p.Cys761Arg) | |
| 5 | g.177293915T>G | CA362323882 | NSD1 | c.5674T>G (p.Cys1892Gly) c.1189T>G (p.Cys397Gly) n.6130T>G n.963T>G c.6238T>G (p.Cys2080Gly) n.5944T>G c.6547T>G (p.Cys2183Gly) c.5740T>G (p.Cys1914Gly) c.2041T>G (p.Cys681Gly) c.6127T>G (p.Cys2043Gly) c.5491T>G (p.Cys1831Gly) c.2281T>G (p.Cys761Gly) | ClinVar dbSNP |
| 5 | g.177293915T= | CA1603535467 | NSD1 | c.5674T= (p.Cys1892=) c.1189T= (p.Cys397=) n.6130T= n.963T= c.6238T= (p.Cys2080=) n.5944T= c.6547T= (p.Cys2183=) c.5740T= (p.Cys1914=) c.2041T= (p.Cys681=) c.6127T= (p.Cys2043=) c.5491T= (p.Cys1831=) c.2281T= (p.Cys761=) | |
| 5 | g.177293916G>A | CA362323886 | NSD1 | c.5675G>A (p.Cys1892Tyr) c.1190G>A (p.Cys397Tyr) n.6131G>A n.964G>A c.6239G>A (p.Cys2080Tyr) n.5945G>A c.6548G>A (p.Cys2183Tyr) c.5741G>A (p.Cys1914Tyr) c.2042G>A (p.Cys681Tyr) c.6128G>A (p.Cys2043Tyr) c.5492G>A (p.Cys1831Tyr) c.2282G>A (p.Cys761Tyr) | |
| 5 | g.177293916G>C | CA281542 | NSD1 | c.5675G>C (p.Cys1892Ser) c.1190G>C (p.Cys397Ser) n.6131G>C n.964G>C c.6239G>C (p.Cys2080Ser) n.5945G>C c.6548G>C (p.Cys2183Ser) c.5741G>C (p.Cys1914Ser) c.2042G>C (p.Cys681Ser) c.6128G>C (p.Cys2043Ser) c.5492G>C (p.Cys1831Ser) c.2282G>C (p.Cys761Ser) | ClinVar dbSNP |
| 5 | g.177293916G= | CA1603535472 | NSD1 | c.5675G= (p.Cys1892=) c.1190G= (p.Cys397=) n.6131G= n.964G= c.6239G= (p.Cys2080=) n.5945G= c.6548G= (p.Cys2183=) c.5741G= (p.Cys1914=) c.2042G= (p.Cys681=) c.6128G= (p.Cys2043=) c.5492G= (p.Cys1831=) c.2282G= (p.Cys761=) | |
| 5 | g.177293916G>T | CA362323890 | NSD1 | c.5675G>T (p.Cys1892Phe) c.1190G>T (p.Cys397Phe) n.6131G>T n.964G>T c.6239G>T (p.Cys2080Phe) n.5945G>T c.6548G>T (p.Cys2183Phe) c.5741G>T (p.Cys1914Phe) c.2042G>T (p.Cys681Phe) c.6128G>T (p.Cys2043Phe) c.5492G>T (p.Cys1831Phe) c.2282G>T (p.Cys761Phe) | |
| 5 | g.177293917T>A | CA362323894 | NSD1 | c.5676T>A (p.Cys1892Ter) c.1191T>A (p.Cys397Ter) n.6132T>A n.965T>A c.6240T>A (p.Cys2080Ter) n.5946T>A c.6549T>A (p.Cys2183Ter) c.5742T>A (p.Cys1914Ter) c.2043T>A (p.Cys681Ter) c.6129T>A (p.Cys2043Ter) c.5493T>A (p.Cys1831Ter) c.2283T>A (p.Cys761Ter) | |
| 5 | g.177293917T>C | CA447961362 | NSD1 | c.5676T>C (p.Cys1892=) c.1191T>C (p.Cys397=) n.6132T>C n.965T>C c.6240T>C (p.Cys2080=) n.5946T>C c.6549T>C (p.Cys2183=) c.5742T>C (p.Cys1914=) c.2043T>C (p.Cys681=) c.6129T>C (p.Cys2043=) c.5493T>C (p.Cys1831=) c.2283T>C (p.Cys761=) | |
| 5 | g.177293917T>G | CA362323895 | NSD1 | c.5676T>G (p.Cys1892Trp) c.1191T>G (p.Cys397Trp) n.6132T>G n.965T>G c.6240T>G (p.Cys2080Trp) n.5946T>G c.6549T>G (p.Cys2183Trp) c.5742T>G (p.Cys1914Trp) c.2043T>G (p.Cys681Trp) c.6129T>G (p.Cys2043Trp) c.5493T>G (p.Cys1831Trp) c.2283T>G (p.Cys761Trp) | |
| 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=) |