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.177292061del | CA295065 | NSD1 | c.5493del (p.Phe1831LeufsTer28) c.1008del (p.Phe336LeufsTer28) n.5949del n.782del c.6057del (p.Phe2019LeufsTer28) n.5763del c.6366del (p.Phe2122LeufsTer28) c.5559del (p.Phe1853LeufsTer28) n.508del c.1860del (p.Phe620LeufsTer28) c.5946del (p.Phe1982LeufsTer28) c.5310del (p.Phe1770LeufsTer28) c.2100del (p.Phe700LeufsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177292059_177292061del | CA2695205737 | NSD1 | c.5491_5493del (p.Phe1831del) c.1006_1008del (p.Phe336del) n.5947_5949del n.780_782del c.6055_6057del (p.Phe2019del) n.5761_5763del c.6364_6366del (p.Phe2122del) c.5557_5559del (p.Phe1853del) n.506_508del c.1858_1860del (p.Phe620del) c.5944_5946del (p.Phe1982del) c.5308_5310del (p.Phe1770del) c.2098_2100del (p.Phe700del) | |
| 5 | g.177292061T>A | CA362320597 | NSD1 | c.5493T>A (p.Phe1831Leu) c.1008T>A (p.Phe336Leu) n.5949T>A n.782T>A c.6057T>A (p.Phe2019Leu) n.5763T>A c.6366T>A (p.Phe2122Leu) c.5559T>A (p.Phe1853Leu) n.508T>A c.1860T>A (p.Phe620Leu) c.5946T>A (p.Phe1982Leu) c.5310T>A (p.Phe1770Leu) c.2100T>A (p.Phe700Leu) | |
| 5 | g.177292061T>C | CA447740745 | NSD1 | c.5493T>C (p.Phe1831=) c.1008T>C (p.Phe336=) n.5949T>C n.782T>C c.6057T>C (p.Phe2019=) n.5763T>C c.6366T>C (p.Phe2122=) c.5559T>C (p.Phe1853=) n.508T>C c.1860T>C (p.Phe620=) c.5946T>C (p.Phe1982=) c.5310T>C (p.Phe1770=) c.2100T>C (p.Phe700=) | |
| 5 | g.177292061T>G | CA362320595 | NSD1 | c.5493T>G (p.Phe1831Leu) c.1008T>G (p.Phe336Leu) n.5949T>G n.782T>G c.6057T>G (p.Phe2019Leu) n.5763T>G c.6366T>G (p.Phe2122Leu) c.5559T>G (p.Phe1853Leu) n.508T>G c.1860T>G (p.Phe620Leu) c.5946T>G (p.Phe1982Leu) c.5310T>G (p.Phe1770Leu) c.2100T>G (p.Phe700Leu) | ClinVar dbSNP |
| 5 | g.177292061T= | CA1603532857 | NSD1 | c.5493T= (p.Phe1831=) c.1008T= (p.Phe336=) n.5949T= n.782T= c.6057T= (p.Phe2019=) n.5763T= c.6366T= (p.Phe2122=) c.5559T= (p.Phe1853=) n.508T= c.1860T= (p.Phe620=) c.5946T= (p.Phe1982=) c.5310T= (p.Phe1770=) c.2100T= (p.Phe700=) | |
| 5 | g.177292062A>C | CA362320600 | NSD1 | c.5494A>C (p.Ser1832Arg) c.1009A>C (p.Ser337Arg) n.5950A>C n.783A>C c.6058A>C (p.Ser2020Arg) n.5764A>C c.6367A>C (p.Ser2123Arg) c.5560A>C (p.Ser1854Arg) n.509A>C c.1861A>C (p.Ser621Arg) c.5947A>C (p.Ser1983Arg) c.5311A>C (p.Ser1771Arg) c.2101A>C (p.Ser701Arg) | |
| 5 | g.177292062A>G | CA362320602 | NSD1 | c.5494A>G (p.Ser1832Gly) c.1009A>G (p.Ser337Gly) n.5950A>G n.783A>G c.6058A>G (p.Ser2020Gly) n.5764A>G c.6367A>G (p.Ser2123Gly) c.5560A>G (p.Ser1854Gly) n.509A>G c.1861A>G (p.Ser621Gly) c.5947A>G (p.Ser1983Gly) c.5311A>G (p.Ser1771Gly) c.2101A>G (p.Ser701Gly) | |
| 5 | g.177292062A>T | CA362320604 | NSD1 | c.5494A>T (p.Ser1832Cys) c.1009A>T (p.Ser337Cys) n.5950A>T n.783A>T c.6058A>T (p.Ser2020Cys) n.5764A>T c.6367A>T (p.Ser2123Cys) c.5560A>T (p.Ser1854Cys) n.509A>T c.1861A>T (p.Ser621Cys) c.5947A>T (p.Ser1983Cys) c.5311A>T (p.Ser1771Cys) c.2101A>T (p.Ser701Cys) | |
| 5 | g.177292063_177292072del | CA2695205738 | NSD1 | c.5495_5504del (p.Ser1832MetfsTer24) c.1010_1019del (p.Ser337MetfsTer24) n.5951_5960del n.784_793del c.6059_6068del (p.Ser2020MetfsTer24) n.5765_5774del c.6368_6377del (p.Ser2123MetfsTer24) c.5561_5570del (p.Ser1854MetfsTer24) n.510_519del c.1862_1871del (p.Ser621MetfsTer24) c.5948_5957del (p.Ser1983MetfsTer24) c.5312_5321del (p.Ser1771MetfsTer24) c.2102_2111del (p.Ser701MetfsTer24) | |
| 5 | g.177292063G>A | CA362320607 | NSD1 | c.5495G>A (p.Ser1832Asn) c.1010G>A (p.Ser337Asn) n.5951G>A n.784G>A c.6059G>A (p.Ser2020Asn) n.5765G>A c.6368G>A (p.Ser2123Asn) c.5561G>A (p.Ser1854Asn) n.510G>A c.1862G>A (p.Ser621Asn) c.5948G>A (p.Ser1983Asn) c.5312G>A (p.Ser1771Asn) c.2102G>A (p.Ser701Asn) | gnomAD v4 |
| 5 | g.177292063G>C | CA362320609 | NSD1 | c.5495G>C (p.Ser1832Thr) c.1010G>C (p.Ser337Thr) n.5951G>C n.784G>C c.6059G>C (p.Ser2020Thr) n.5765G>C c.6368G>C (p.Ser2123Thr) c.5561G>C (p.Ser1854Thr) n.510G>C c.1862G>C (p.Ser621Thr) c.5948G>C (p.Ser1983Thr) c.5312G>C (p.Ser1771Thr) c.2102G>C (p.Ser701Thr) | |
| 5 | g.177292063G>T | CA362320612 | NSD1 | c.5495G>T (p.Ser1832Ile) c.1010G>T (p.Ser337Ile) n.5951G>T n.784G>T c.6059G>T (p.Ser2020Ile) n.5765G>T c.6368G>T (p.Ser2123Ile) c.5561G>T (p.Ser1854Ile) n.510G>T c.1862G>T (p.Ser621Ile) c.5948G>T (p.Ser1983Ile) c.5312G>T (p.Ser1771Ile) c.2102G>T (p.Ser701Ile) | |
| 5 | g.177292064T>A | CA362320617 | NSD1 | c.5496T>A (p.Ser1832Arg) c.1011T>A (p.Ser337Arg) n.5952T>A n.785T>A c.6060T>A (p.Ser2020Arg) n.5766T>A c.6369T>A (p.Ser2123Arg) c.5562T>A (p.Ser1854Arg) n.511T>A c.1863T>A (p.Ser621Arg) c.5949T>A (p.Ser1983Arg) c.5313T>A (p.Ser1771Arg) c.2103T>A (p.Ser701Arg) | |
| 5 | g.177292064T>C | CA447740746 | NSD1 | c.5496T>C (p.Ser1832=) c.1011T>C (p.Ser337=) n.5952T>C n.785T>C c.6060T>C (p.Ser2020=) n.5766T>C c.6369T>C (p.Ser2123=) c.5562T>C (p.Ser1854=) n.511T>C c.1863T>C (p.Ser621=) c.5949T>C (p.Ser1983=) c.5313T>C (p.Ser1771=) c.2103T>C (p.Ser701=) | |
| 5 | g.177292064T>G | CA362320615 | NSD1 | c.5496T>G (p.Ser1832Arg) c.1011T>G (p.Ser337Arg) n.5952T>G n.785T>G c.6060T>G (p.Ser2020Arg) n.5766T>G c.6369T>G (p.Ser2123Arg) c.5562T>G (p.Ser1854Arg) n.511T>G c.1863T>G (p.Ser621Arg) c.5949T>G (p.Ser1983Arg) c.5313T>G (p.Ser1771Arg) c.2103T>G (p.Ser701Arg) | |
| 5 | g.177292065T>A | CA362320621 | NSD1 | c.5497T>A (p.Cys1833Ser) c.1012T>A (p.Cys338Ser) n.5953T>A n.786T>A c.6061T>A (p.Cys2021Ser) n.5767T>A c.6370T>A (p.Cys2124Ser) c.5563T>A (p.Cys1855Ser) n.512T>A c.1864T>A (p.Cys622Ser) c.5950T>A (p.Cys1984Ser) c.5314T>A (p.Cys1772Ser) c.2104T>A (p.Cys702Ser) | |
| 5 | g.177292065T>C | CA362320624 | NSD1 | c.5497T>C (p.Cys1833Arg) c.1012T>C (p.Cys338Arg) n.5953T>C n.786T>C c.6061T>C (p.Cys2021Arg) n.5767T>C c.6370T>C (p.Cys2124Arg) c.5563T>C (p.Cys1855Arg) n.512T>C c.1864T>C (p.Cys622Arg) c.5950T>C (p.Cys1984Arg) c.5314T>C (p.Cys1772Arg) c.2104T>C (p.Cys702Arg) | |
| 5 | g.177292065T>G | CA362320626 | NSD1 | c.5497T>G (p.Cys1833Gly) c.1012T>G (p.Cys338Gly) n.5953T>G n.786T>G c.6061T>G (p.Cys2021Gly) n.5767T>G c.6370T>G (p.Cys2124Gly) c.5563T>G (p.Cys1855Gly) n.512T>G c.1864T>G (p.Cys622Gly) c.5950T>G (p.Cys1984Gly) c.5314T>G (p.Cys1772Gly) c.2104T>G (p.Cys702Gly) | ClinVar dbSNP |
| 5 | g.177292065T= | CA1603532865 | NSD1 | c.5497T= (p.Cys1833=) c.1012T= (p.Cys338=) n.5953T= n.786T= c.6061T= (p.Cys2021=) n.5767T= c.6370T= (p.Cys2124=) c.5563T= (p.Cys1855=) n.512T= c.1864T= (p.Cys622=) c.5950T= (p.Cys1984=) c.5314T= (p.Cys1772=) c.2104T= (p.Cys702=) | |
| 5 | g.177292066G>A | CA132861340 | NSD1 | c.5498G>A (p.Cys1833Tyr) c.1013G>A (p.Cys338Tyr) n.5954G>A n.787G>A c.6062G>A (p.Cys2021Tyr) n.5768G>A c.6371G>A (p.Cys2124Tyr) c.5564G>A (p.Cys1855Tyr) n.513G>A c.1865G>A (p.Cys622Tyr) c.5951G>A (p.Cys1984Tyr) c.5315G>A (p.Cys1772Tyr) c.2105G>A (p.Cys702Tyr) | dbSNP COSMIC |
| 5 | g.177292066G>C | CA362320631 | NSD1 | c.5498G>C (p.Cys1833Ser) c.1013G>C (p.Cys338Ser) n.5954G>C n.787G>C c.6062G>C (p.Cys2021Ser) n.5768G>C c.6371G>C (p.Cys2124Ser) c.5564G>C (p.Cys1855Ser) n.513G>C c.1865G>C (p.Cys622Ser) c.5951G>C (p.Cys1984Ser) c.5315G>C (p.Cys1772Ser) c.2105G>C (p.Cys702Ser) | |
| 5 | g.177292066G= | CA1603532869 | NSD1 | c.5498G= (p.Cys1833=) c.1013G= (p.Cys338=) n.5954G= n.787G= c.6062G= (p.Cys2021=) n.5768G= c.6371G= (p.Cys2124=) c.5564G= (p.Cys1855=) n.513G= c.1865G= (p.Cys622=) c.5951G= (p.Cys1984=) c.5315G= (p.Cys1772=) c.2105G= (p.Cys702=) | |
| 5 | g.177292066G>T | CA362320634 | NSD1 | c.5498G>T (p.Cys1833Phe) c.1013G>T (p.Cys338Phe) n.5954G>T n.787G>T c.6062G>T (p.Cys2021Phe) n.5768G>T c.6371G>T (p.Cys2124Phe) c.5564G>T (p.Cys1855Phe) n.513G>T c.1865G>T (p.Cys622Phe) c.5951G>T (p.Cys1984Phe) c.5315G>T (p.Cys1772Phe) c.2105G>T (p.Cys702Phe) | |
| 5 | g.177292067T>A | CA362320638 | NSD1 | c.5499T>A (p.Cys1833Ter) c.1014T>A (p.Cys338Ter) n.5955T>A n.788T>A c.6063T>A (p.Cys2021Ter) n.5769T>A c.6372T>A (p.Cys2124Ter) c.5565T>A (p.Cys1855Ter) n.514T>A c.1866T>A (p.Cys622Ter) c.5952T>A (p.Cys1984Ter) c.5316T>A (p.Cys1772Ter) c.2106T>A (p.Cys702Ter) | |
| 5 | g.177292067T>C | CA3577980 | NSD1 | c.5499T>C (p.Cys1833=) c.1014T>C (p.Cys338=) n.5955T>C n.788T>C c.6063T>C (p.Cys2021=) n.5769T>C c.6372T>C (p.Cys2124=) c.5565T>C (p.Cys1855=) n.514T>C c.1866T>C (p.Cys622=) c.5952T>C (p.Cys1984=) c.5316T>C (p.Cys1772=) c.2106T>C (p.Cys702=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177292067T>G | CA362320640 | NSD1 | c.5499T>G (p.Cys1833Trp) c.1014T>G (p.Cys338Trp) n.5955T>G n.788T>G c.6063T>G (p.Cys2021Trp) n.5769T>G c.6372T>G (p.Cys2124Trp) c.5565T>G (p.Cys1855Trp) n.514T>G c.1866T>G (p.Cys622Trp) c.5952T>G (p.Cys1984Trp) c.5316T>G (p.Cys1772Trp) c.2106T>G (p.Cys702Trp) | |
| 5 | g.177292067T= | CA1603532873 | NSD1 | c.5499T= (p.Cys1833=) c.1014T= (p.Cys338=) n.5955T= n.788T= c.6063T= (p.Cys2021=) n.5769T= c.6372T= (p.Cys2124=) c.5565T= (p.Cys1855=) n.514T= c.1866T= (p.Cys622=) c.5952T= (p.Cys1984=) c.5316T= (p.Cys1772=) c.2106T= (p.Cys702=) | |
| 5 | g.177292068G>A | CA362320645 | NSD1 | c.5500G>A (p.Gly1834Arg) c.1015G>A (p.Gly339Arg) n.5956G>A n.789G>A c.6064G>A (p.Gly2022Arg) n.5770G>A c.6373G>A (p.Gly2125Arg) c.5566G>A (p.Gly1856Arg) n.515G>A c.1867G>A (p.Gly623Arg) c.5953G>A (p.Gly1985Arg) c.5317G>A (p.Gly1773Arg) c.2107G>A (p.Gly703Arg) | |
| 5 | g.177292068G>C | CA362320647 | NSD1 | c.5500G>C (p.Gly1834Arg) c.1015G>C (p.Gly339Arg) n.5956G>C n.789G>C c.6064G>C (p.Gly2022Arg) n.5770G>C c.6373G>C (p.Gly2125Arg) c.5566G>C (p.Gly1856Arg) n.515G>C c.1867G>C (p.Gly623Arg) c.5953G>C (p.Gly1985Arg) c.5317G>C (p.Gly1773Arg) c.2107G>C (p.Gly703Arg) | |
| 5 | g.177292068G>T | CA362320649 | NSD1 | c.5500G>T (p.Gly1834Trp) c.1015G>T (p.Gly339Trp) n.5956G>T n.789G>T c.6064G>T (p.Gly2022Trp) n.5770G>T c.6373G>T (p.Gly2125Trp) c.5566G>T (p.Gly1856Trp) n.515G>T c.1867G>T (p.Gly623Trp) c.5953G>T (p.Gly1985Trp) c.5317G>T (p.Gly1773Trp) c.2107G>T (p.Gly703Trp) | |
| 5 | g.177292069G>A | CA362320652 | NSD1 | c.5501G>A (p.Gly1834Glu) c.1016G>A (p.Gly339Glu) n.5957G>A n.790G>A c.6065G>A (p.Gly2022Glu) n.5771G>A c.6374G>A (p.Gly2125Glu) c.5567G>A (p.Gly1856Glu) n.516G>A c.1868G>A (p.Gly623Glu) c.5954G>A (p.Gly1985Glu) c.5318G>A (p.Gly1773Glu) c.2108G>A (p.Gly703Glu) | dbSNP |
| 5 | g.177292069G>C | CA362320654 | NSD1 | c.5501G>C (p.Gly1834Ala) c.1016G>C (p.Gly339Ala) n.5957G>C n.790G>C c.6065G>C (p.Gly2022Ala) n.5771G>C c.6374G>C (p.Gly2125Ala) c.5567G>C (p.Gly1856Ala) n.516G>C c.1868G>C (p.Gly623Ala) c.5954G>C (p.Gly1985Ala) c.5318G>C (p.Gly1773Ala) c.2108G>C (p.Gly703Ala) | |
| 5 | g.177292069G>T | CA362320657 | NSD1 | c.5501G>T (p.Gly1834Val) c.1016G>T (p.Gly339Val) n.5957G>T n.790G>T c.6065G>T (p.Gly2022Val) n.5771G>T c.6374G>T (p.Gly2125Val) c.5567G>T (p.Gly1856Val) n.516G>T c.1868G>T (p.Gly623Val) c.5954G>T (p.Gly1985Val) c.5318G>T (p.Gly1773Val) c.2108G>T (p.Gly703Val) | |
| 5 | g.177292070G>A | CA447740747 | NSD1 | c.5502G>A (p.Gly1834=) c.1017G>A (p.Gly339=) n.5958G>A n.791G>A c.6066G>A (p.Gly2022=) n.5772G>A c.6375G>A (p.Gly2125=) c.5568G>A (p.Gly1856=) n.517G>A c.1869G>A (p.Gly623=) c.5955G>A (p.Gly1985=) c.5319G>A (p.Gly1773=) c.2109G>A (p.Gly703=) | dbSNP |
| 5 | g.177292070G>C | CA447740748 | NSD1 | c.5502G>C (p.Gly1834=) c.1017G>C (p.Gly339=) n.5958G>C n.791G>C c.6066G>C (p.Gly2022=) n.5772G>C c.6375G>C (p.Gly2125=) c.5568G>C (p.Gly1856=) n.517G>C c.1869G>C (p.Gly623=) c.5955G>C (p.Gly1985=) c.5319G>C (p.Gly1773=) c.2109G>C (p.Gly703=) | |
| 5 | g.177292070G>T | CA447740749 | NSD1 | c.5502G>T (p.Gly1834=) c.1017G>T (p.Gly339=) n.5958G>T n.791G>T c.6066G>T (p.Gly2022=) n.5772G>T c.6375G>T (p.Gly2125=) c.5568G>T (p.Gly1856=) n.517G>T c.1869G>T (p.Gly623=) c.5955G>T (p.Gly1985=) c.5319G>T (p.Gly1773=) c.2109G>T (p.Gly703=) | |
| 5 | g.177292071G>A | CA362320661 | NSD1 | c.5503G>A (p.Asp1835Asn) c.1018G>A (p.Asp340Asn) n.5959G>A n.792G>A c.6067G>A (p.Asp2023Asn) n.5773G>A c.6376G>A (p.Asp2126Asn) c.5569G>A (p.Asp1857Asn) n.518G>A c.1870G>A (p.Asp624Asn) c.5956G>A (p.Asp1986Asn) c.5320G>A (p.Asp1774Asn) c.2110G>A (p.Asp704Asn) | |
| 5 | g.177292071G>C | CA362320663 | NSD1 | c.5503G>C (p.Asp1835His) c.1018G>C (p.Asp340His) n.5959G>C n.792G>C c.6067G>C (p.Asp2023His) n.5773G>C c.6376G>C (p.Asp2126His) c.5569G>C (p.Asp1857His) n.518G>C c.1870G>C (p.Asp624His) c.5956G>C (p.Asp1986His) c.5320G>C (p.Asp1774His) c.2110G>C (p.Asp704His) | COSMIC COSMIC |
| 5 | g.177292071G>T | CA362320666 | NSD1 | c.5503G>T (p.Asp1835Tyr) c.1018G>T (p.Asp340Tyr) n.5959G>T n.792G>T c.6067G>T (p.Asp2023Tyr) n.5773G>T c.6376G>T (p.Asp2126Tyr) c.5569G>T (p.Asp1857Tyr) n.518G>T c.1870G>T (p.Asp624Tyr) c.5956G>T (p.Asp1986Tyr) c.5320G>T (p.Asp1774Tyr) c.2110G>T (p.Asp704Tyr) | |
| 5 | g.177292072A= | CA1603532878 | NSD1 | c.5504A= (p.Asp1835=) c.1019A= (p.Asp340=) n.5960A= n.793A= c.6068A= (p.Asp2023=) n.5774A= c.6377A= (p.Asp2126=) c.5570A= (p.Asp1857=) n.519A= c.1871A= (p.Asp624=) c.5957A= (p.Asp1986=) c.5321A= (p.Asp1774=) c.2111A= (p.Asp704=) | |
| 5 | g.177292072A>C | CA362320670 | NSD1 | c.5504A>C (p.Asp1835Ala) c.1019A>C (p.Asp340Ala) n.5960A>C n.793A>C c.6068A>C (p.Asp2023Ala) n.5774A>C c.6377A>C (p.Asp2126Ala) c.5570A>C (p.Asp1857Ala) n.519A>C c.1871A>C (p.Asp624Ala) c.5957A>C (p.Asp1986Ala) c.5321A>C (p.Asp1774Ala) c.2111A>C (p.Asp704Ala) | |
| 5 | g.177292072A>G | CA362320671 | NSD1 | c.5504A>G (p.Asp1835Gly) c.1019A>G (p.Asp340Gly) n.5960A>G n.793A>G c.6068A>G (p.Asp2023Gly) n.5774A>G c.6377A>G (p.Asp2126Gly) c.5570A>G (p.Asp1857Gly) n.519A>G c.1871A>G (p.Asp624Gly) c.5957A>G (p.Asp1986Gly) c.5321A>G (p.Asp1774Gly) c.2111A>G (p.Asp704Gly) | |
| 5 | g.177292072A>T | CA295066 | NSD1 | c.5504A>T (p.Asp1835Val) c.1019A>T (p.Asp340Val) n.5960A>T n.793A>T c.6068A>T (p.Asp2023Val) n.5774A>T c.6377A>T (p.Asp2126Val) c.5570A>T (p.Asp1857Val) n.519A>T c.1871A>T (p.Asp624Val) c.5957A>T (p.Asp1986Val) c.5321A>T (p.Asp1774Val) c.2111A>T (p.Asp704Val) | ClinVar dbSNP |
| 5 | g.177292073T>A | CA362320677 | NSD1 | c.5505T>A (p.Asp1835Glu) c.1020T>A (p.Asp340Glu) n.5961T>A n.794T>A c.6069T>A (p.Asp2023Glu) n.5775T>A c.6378T>A (p.Asp2126Glu) c.5571T>A (p.Asp1857Glu) n.520T>A c.1872T>A (p.Asp624Glu) c.5958T>A (p.Asp1986Glu) c.5322T>A (p.Asp1774Glu) c.2112T>A (p.Asp704Glu) | |
| 5 | g.177292073T>C | CA447740750 | NSD1 | c.5505T>C (p.Asp1835=) c.1020T>C (p.Asp340=) n.5961T>C n.794T>C c.6069T>C (p.Asp2023=) n.5775T>C c.6378T>C (p.Asp2126=) c.5571T>C (p.Asp1857=) n.520T>C c.1872T>C (p.Asp624=) c.5958T>C (p.Asp1986=) c.5322T>C (p.Asp1774=) c.2112T>C (p.Asp704=) | |
| 5 | g.177292073T>G | CA362320676 | NSD1 | c.5505T>G (p.Asp1835Glu) c.1020T>G (p.Asp340Glu) n.5961T>G n.794T>G c.6069T>G (p.Asp2023Glu) n.5775T>G c.6378T>G (p.Asp2126Glu) c.5571T>G (p.Asp1857Glu) n.520T>G c.1872T>G (p.Asp624Glu) c.5958T>G (p.Asp1986Glu) c.5322T>G (p.Asp1774Glu) c.2112T>G (p.Asp704Glu) | |
| 5 | g.177292074G>A | CA362320680 | NSD1 | c.5506G>A (p.Ala1836Thr) c.1021G>A (p.Ala341Thr) n.5962G>A n.795G>A c.6070G>A (p.Ala2024Thr) n.5776G>A c.6379G>A (p.Ala2127Thr) c.5572G>A (p.Ala1858Thr) n.521G>A c.1873G>A (p.Ala625Thr) c.5959G>A (p.Ala1987Thr) c.5323G>A (p.Ala1775Thr) c.2113G>A (p.Ala705Thr) | dbSNP |
| 5 | g.177292074G>C | CA362320685 | NSD1 | c.5506G>C (p.Ala1836Pro) c.1021G>C (p.Ala341Pro) n.5962G>C n.795G>C c.6070G>C (p.Ala2024Pro) n.5776G>C c.6379G>C (p.Ala2127Pro) c.5572G>C (p.Ala1858Pro) n.521G>C c.1873G>C (p.Ala625Pro) c.5959G>C (p.Ala1987Pro) c.5323G>C (p.Ala1775Pro) c.2113G>C (p.Ala705Pro) | |
| 5 | g.177292074G>T | CA362320682 | NSD1 | c.5506G>T (p.Ala1836Ser) c.1021G>T (p.Ala341Ser) n.5962G>T n.795G>T c.6070G>T (p.Ala2024Ser) n.5776G>T c.6379G>T (p.Ala2127Ser) c.5572G>T (p.Ala1858Ser) n.521G>T c.1873G>T (p.Ala625Ser) c.5959G>T (p.Ala1987Ser) c.5323G>T (p.Ala1775Ser) c.2113G>T (p.Ala705Ser) |