WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177292024A= | CA1603532798 | NSD1 | c.5456A= (p.Gln1819=) c.971A= (p.Gln324=) n.5912A= n.745A= c.6020A= (p.Gln2007=) n.5726A= c.6329A= (p.Gln2110=) c.5522A= (p.Gln1841=) n.471A= c.1823A= (p.Gln608=) c.5909A= (p.Gln1970=) c.5273A= (p.Gln1758=) c.2063A= (p.Gln688=) | |
| 5 | g.177292024A>C | CA362320393 | NSD1 | c.5456A>C (p.Gln1819Pro) c.971A>C (p.Gln324Pro) n.5912A>C n.745A>C c.6020A>C (p.Gln2007Pro) n.5726A>C c.6329A>C (p.Gln2110Pro) c.5522A>C (p.Gln1841Pro) n.471A>C c.1823A>C (p.Gln608Pro) c.5909A>C (p.Gln1970Pro) c.5273A>C (p.Gln1758Pro) c.2063A>C (p.Gln688Pro) | |
| 5 | g.177292024A>G | CA3577978 | NSD1 | c.5456A>G (p.Gln1819Arg) c.971A>G (p.Gln324Arg) n.5912A>G n.745A>G c.6020A>G (p.Gln2007Arg) n.5726A>G c.6329A>G (p.Gln2110Arg) c.5522A>G (p.Gln1841Arg) n.471A>G c.1823A>G (p.Gln608Arg) c.5909A>G (p.Gln1970Arg) c.5273A>G (p.Gln1758Arg) c.2063A>G (p.Gln688Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177292024A>T | CA362320397 | NSD1 | c.5456A>T (p.Gln1819Leu) c.971A>T (p.Gln324Leu) n.5912A>T n.745A>T c.6020A>T (p.Gln2007Leu) n.5726A>T c.6329A>T (p.Gln2110Leu) c.5522A>T (p.Gln1841Leu) n.471A>T c.1823A>T (p.Gln608Leu) c.5909A>T (p.Gln1970Leu) c.5273A>T (p.Gln1758Leu) c.2063A>T (p.Gln688Leu) | dbSNP COSMIC COSMIC |
| 5 | g.177292025G>A | CA447740719 | NSD1 | c.5457G>A (p.Gln1819=) c.972G>A (p.Gln324=) n.5913G>A n.746G>A c.6021G>A (p.Gln2007=) n.5727G>A c.6330G>A (p.Gln2110=) c.5523G>A (p.Gln1841=) n.472G>A c.1824G>A (p.Gln608=) c.5910G>A (p.Gln1970=) c.5274G>A (p.Gln1758=) c.2064G>A (p.Gln688=) | |
| 5 | g.177292025G>C | CA362320400 | NSD1 | c.5457G>C (p.Gln1819His) c.972G>C (p.Gln324His) n.5913G>C n.746G>C c.6021G>C (p.Gln2007His) n.5727G>C c.6330G>C (p.Gln2110His) c.5523G>C (p.Gln1841His) n.472G>C c.1824G>C (p.Gln608His) c.5910G>C (p.Gln1970His) c.5274G>C (p.Gln1758His) c.2064G>C (p.Gln688His) | |
| 5 | g.177292025G>T | CA362320402 | NSD1 | c.5457G>T (p.Gln1819His) c.972G>T (p.Gln324His) n.5913G>T n.746G>T c.6021G>T (p.Gln2007His) n.5727G>T c.6330G>T (p.Gln2110His) c.5523G>T (p.Gln1841His) n.472G>T c.1824G>T (p.Gln608His) c.5910G>T (p.Gln1970His) c.5274G>T (p.Gln1758His) c.2064G>T (p.Gln688His) | |
| 5 | g.177292026G>A | CA362320405 | NSD1 | c.5458G>A (p.Gly1820Ser) c.973G>A (p.Gly325Ser) n.5914G>A n.747G>A c.6022G>A (p.Gly2008Ser) n.5728G>A c.6331G>A (p.Gly2111Ser) c.5524G>A (p.Gly1842Ser) n.473G>A c.1825G>A (p.Gly609Ser) c.5911G>A (p.Gly1971Ser) c.5275G>A (p.Gly1759Ser) c.2065G>A (p.Gly689Ser) | |
| 5 | g.177292026G>C | CA362320410 | NSD1 | c.5458G>C (p.Gly1820Arg) c.973G>C (p.Gly325Arg) n.5914G>C n.747G>C c.6022G>C (p.Gly2008Arg) n.5728G>C c.6331G>C (p.Gly2111Arg) c.5524G>C (p.Gly1842Arg) n.473G>C c.1825G>C (p.Gly609Arg) c.5911G>C (p.Gly1971Arg) c.5275G>C (p.Gly1759Arg) c.2065G>C (p.Gly689Arg) | |
| 5 | g.177292026G= | CA1603532801 | NSD1 | c.5458G= (p.Gly1820=) c.973G= (p.Gly325=) n.5914G= n.747G= c.6022G= (p.Gly2008=) n.5728G= c.6331G= (p.Gly2111=) c.5524G= (p.Gly1842=) n.473G= c.1825G= (p.Gly609=) c.5911G= (p.Gly1971=) c.5275G= (p.Gly1759=) c.2065G= (p.Gly689=) | |
| 5 | g.177292026G>T | CA362320408 | NSD1 | c.5458G>T (p.Gly1820Cys) c.973G>T (p.Gly325Cys) n.5914G>T n.747G>T c.6022G>T (p.Gly2008Cys) n.5728G>T c.6331G>T (p.Gly2111Cys) c.5524G>T (p.Gly1842Cys) n.473G>T c.1825G>T (p.Gly609Cys) c.5911G>T (p.Gly1971Cys) c.5275G>T (p.Gly1759Cys) c.2065G>T (p.Gly689Cys) | dbSNP gnomAD v4 |
| 5 | g.177292027G>A | CA362320414 | NSD1 | c.5459G>A (p.Gly1820Asp) c.974G>A (p.Gly325Asp) n.5915G>A n.748G>A c.6023G>A (p.Gly2008Asp) n.5729G>A c.6332G>A (p.Gly2111Asp) c.5525G>A (p.Gly1842Asp) n.474G>A c.1826G>A (p.Gly609Asp) c.5912G>A (p.Gly1971Asp) c.5276G>A (p.Gly1759Asp) c.2066G>A (p.Gly689Asp) | dbSNP |
| 5 | g.177292027G>C | CA362320417 | NSD1 | c.5459G>C (p.Gly1820Ala) c.974G>C (p.Gly325Ala) n.5915G>C n.748G>C c.6023G>C (p.Gly2008Ala) n.5729G>C c.6332G>C (p.Gly2111Ala) c.5525G>C (p.Gly1842Ala) n.474G>C c.1826G>C (p.Gly609Ala) c.5912G>C (p.Gly1971Ala) c.5276G>C (p.Gly1759Ala) c.2066G>C (p.Gly689Ala) | |
| 5 | g.177292027G>T | CA362320419 | NSD1 | c.5459G>T (p.Gly1820Val) c.974G>T (p.Gly325Val) n.5915G>T n.748G>T c.6023G>T (p.Gly2008Val) n.5729G>T c.6332G>T (p.Gly2111Val) c.5525G>T (p.Gly1842Val) n.474G>T c.1826G>T (p.Gly609Val) c.5912G>T (p.Gly1971Val) c.5276G>T (p.Gly1759Val) c.2066G>T (p.Gly689Val) | |
| 5 | g.177292028T>A | CA447740725 | NSD1 | c.5460T>A (p.Gly1820=) c.975T>A (p.Gly325=) n.5916T>A n.749T>A c.6024T>A (p.Gly2008=) n.5730T>A c.6333T>A (p.Gly2111=) c.5526T>A (p.Gly1842=) n.475T>A c.1827T>A (p.Gly609=) c.5913T>A (p.Gly1971=) c.5277T>A (p.Gly1759=) c.2067T>A (p.Gly689=) | dbSNP gnomAD v4 |
| 5 | g.177292028T>C | CA447740724 | NSD1 | c.5460T>C (p.Gly1820=) c.975T>C (p.Gly325=) n.5916T>C n.749T>C c.6024T>C (p.Gly2008=) n.5730T>C c.6333T>C (p.Gly2111=) c.5526T>C (p.Gly1842=) n.475T>C c.1827T>C (p.Gly609=) c.5913T>C (p.Gly1971=) c.5277T>C (p.Gly1759=) c.2067T>C (p.Gly689=) | gnomAD v4 |
| 5 | g.177292028T>G | CA447740723 | NSD1 | c.5460T>G (p.Gly1820=) c.975T>G (p.Gly325=) n.5916T>G n.749T>G c.6024T>G (p.Gly2008=) n.5730T>G c.6333T>G (p.Gly2111=) c.5526T>G (p.Gly1842=) n.475T>G c.1827T>G (p.Gly609=) c.5913T>G (p.Gly1971=) c.5277T>G (p.Gly1759=) c.2067T>G (p.Gly689=) | |
| 5 | g.177292028T= | CA1603532804 | NSD1 | c.5460T= (p.Gly1820=) c.975T= (p.Gly325=) n.5916T= n.749T= c.6024T= (p.Gly2008=) n.5730T= c.6333T= (p.Gly2111=) c.5526T= (p.Gly1842=) n.475T= c.1827T= (p.Gly609=) c.5913T= (p.Gly1971=) c.5277T= (p.Gly1759=) c.2067T= (p.Gly689=) | |
| 5 | g.177292029G>A | CA362320423 | NSD1 | c.5461G>A (p.Glu1821Lys) c.976G>A (p.Glu326Lys) n.5917G>A n.750G>A c.6025G>A (p.Glu2009Lys) n.5731G>A c.6334G>A (p.Glu2112Lys) c.5527G>A (p.Glu1843Lys) n.476G>A c.1828G>A (p.Glu610Lys) c.5914G>A (p.Glu1972Lys) c.5278G>A (p.Glu1760Lys) c.2068G>A (p.Glu690Lys) | dbSNP |
| 5 | g.177292029G>C | CA362320426 | NSD1 | c.5461G>C (p.Glu1821Gln) c.976G>C (p.Glu326Gln) n.5917G>C n.750G>C c.6025G>C (p.Glu2009Gln) n.5731G>C c.6334G>C (p.Glu2112Gln) c.5527G>C (p.Glu1843Gln) n.476G>C c.1828G>C (p.Glu610Gln) c.5914G>C (p.Glu1972Gln) c.5278G>C (p.Glu1760Gln) c.2068G>C (p.Glu690Gln) | |
| 5 | g.177292029G>T | CA362320428 | NSD1 | c.5461G>T (p.Glu1821Ter) c.976G>T (p.Glu326Ter) n.5917G>T n.750G>T c.6025G>T (p.Glu2009Ter) n.5731G>T c.6334G>T (p.Glu2112Ter) c.5527G>T (p.Glu1843Ter) n.476G>T c.1828G>T (p.Glu610Ter) c.5914G>T (p.Glu1972Ter) c.5278G>T (p.Glu1760Ter) c.2068G>T (p.Glu690Ter) | |
| 5 | g.177292030A>C | CA362320431 | NSD1 | c.5462A>C (p.Glu1821Ala) c.977A>C (p.Glu326Ala) n.5918A>C n.751A>C c.6026A>C (p.Glu2009Ala) n.5732A>C c.6335A>C (p.Glu2112Ala) c.5528A>C (p.Glu1843Ala) n.477A>C c.1829A>C (p.Glu610Ala) c.5915A>C (p.Glu1972Ala) c.5279A>C (p.Glu1760Ala) c.2069A>C (p.Glu690Ala) | |
| 5 | g.177292030A>G | CA362320434 | NSD1 | c.5462A>G (p.Glu1821Gly) c.977A>G (p.Glu326Gly) n.5918A>G n.751A>G c.6026A>G (p.Glu2009Gly) n.5732A>G c.6335A>G (p.Glu2112Gly) c.5528A>G (p.Glu1843Gly) n.477A>G c.1829A>G (p.Glu610Gly) c.5915A>G (p.Glu1972Gly) c.5279A>G (p.Glu1760Gly) c.2069A>G (p.Glu690Gly) | |
| 5 | g.177292030A>T | CA362320436 | NSD1 | c.5462A>T (p.Glu1821Val) c.977A>T (p.Glu326Val) n.5918A>T n.751A>T c.6026A>T (p.Glu2009Val) n.5732A>T c.6335A>T (p.Glu2112Val) c.5528A>T (p.Glu1843Val) n.477A>T c.1829A>T (p.Glu610Val) c.5915A>T (p.Glu1972Val) c.5279A>T (p.Glu1760Val) c.2069A>T (p.Glu690Val) | |
| 5 | g.177292031A>C | CA362320437 | NSD1 | c.5463A>C (p.Glu1821Asp) c.978A>C (p.Glu326Asp) n.5919A>C n.752A>C c.6027A>C (p.Glu2009Asp) n.5733A>C c.6336A>C (p.Glu2112Asp) c.5529A>C (p.Glu1843Asp) n.478A>C c.1830A>C (p.Glu610Asp) c.5916A>C (p.Glu1972Asp) c.5280A>C (p.Glu1760Asp) c.2070A>C (p.Glu690Asp) | |
| 5 | g.177292031A>G | CA447740726 | NSD1 | c.5463A>G (p.Glu1821=) c.978A>G (p.Glu326=) n.5919A>G n.752A>G c.6027A>G (p.Glu2009=) n.5733A>G c.6336A>G (p.Glu2112=) c.5529A>G (p.Glu1843=) n.478A>G c.1830A>G (p.Glu610=) c.5916A>G (p.Glu1972=) c.5280A>G (p.Glu1760=) c.2070A>G (p.Glu690=) | |
| 5 | g.177292031A>T | CA362320438 | NSD1 | c.5463A>T (p.Glu1821Asp) c.978A>T (p.Glu326Asp) n.5919A>T n.752A>T c.6027A>T (p.Glu2009Asp) n.5733A>T c.6336A>T (p.Glu2112Asp) c.5529A>T (p.Glu1843Asp) n.478A>T c.1830A>T (p.Glu610Asp) c.5916A>T (p.Glu1972Asp) c.5280A>T (p.Glu1760Asp) c.2070A>T (p.Glu690Asp) | |
| 5 | g.177292032A>C | CA362320445 | NSD1 | c.5464A>C (p.Ile1822Leu) c.979A>C (p.Ile327Leu) n.5920A>C n.753A>C c.6028A>C (p.Ile2010Leu) n.5734A>C c.6337A>C (p.Ile2113Leu) c.5530A>C (p.Ile1844Leu) n.479A>C c.1831A>C (p.Ile611Leu) c.5917A>C (p.Ile1973Leu) c.5281A>C (p.Ile1761Leu) c.2071A>C (p.Ile691Leu) | |
| 5 | g.177292032A>G | CA362320441 | NSD1 | c.5464A>G (p.Ile1822Val) c.979A>G (p.Ile327Val) n.5920A>G n.753A>G c.6028A>G (p.Ile2010Val) n.5734A>G c.6337A>G (p.Ile2113Val) c.5530A>G (p.Ile1844Val) n.479A>G c.1831A>G (p.Ile611Val) c.5917A>G (p.Ile1973Val) c.5281A>G (p.Ile1761Val) c.2071A>G (p.Ile691Val) | |
| 5 | g.177292032A>T | CA362320442 | NSD1 | c.5464A>T (p.Ile1822Phe) c.979A>T (p.Ile327Phe) n.5920A>T n.753A>T c.6028A>T (p.Ile2010Phe) n.5734A>T c.6337A>T (p.Ile2113Phe) c.5530A>T (p.Ile1844Phe) n.479A>T c.1831A>T (p.Ile611Phe) c.5917A>T (p.Ile1973Phe) c.5281A>T (p.Ile1761Phe) c.2071A>T (p.Ile691Phe) | |
| 5 | g.177292033T>A | CA362320448 | NSD1 | c.5465T>A (p.Ile1822Asn) c.980T>A (p.Ile327Asn) n.5921T>A n.754T>A c.6029T>A (p.Ile2010Asn) n.5735T>A c.6338T>A (p.Ile2113Asn) c.5531T>A (p.Ile1844Asn) n.480T>A c.1832T>A (p.Ile611Asn) c.5918T>A (p.Ile1973Asn) c.5282T>A (p.Ile1761Asn) c.2072T>A (p.Ile691Asn) | dbSNP |
| 5 | g.177292033T>C | CA362320450 | NSD1 | c.5465T>C (p.Ile1822Thr) c.980T>C (p.Ile327Thr) n.5921T>C n.754T>C c.6029T>C (p.Ile2010Thr) n.5735T>C c.6338T>C (p.Ile2113Thr) c.5531T>C (p.Ile1844Thr) n.480T>C c.1832T>C (p.Ile611Thr) c.5918T>C (p.Ile1973Thr) c.5282T>C (p.Ile1761Thr) c.2072T>C (p.Ile691Thr) | |
| 5 | g.177292033T>G | CA362320452 | NSD1 | c.5465T>G (p.Ile1822Ser) c.980T>G (p.Ile327Ser) n.5921T>G n.754T>G c.6029T>G (p.Ile2010Ser) n.5735T>G c.6338T>G (p.Ile2113Ser) c.5531T>G (p.Ile1844Ser) n.480T>G c.1832T>G (p.Ile611Ser) c.5918T>G (p.Ile1973Ser) c.5282T>G (p.Ile1761Ser) c.2072T>G (p.Ile691Ser) | |
| 5 | g.177292034C>A | CA447740729 | NSD1 | c.5466C>A (p.Ile1822=) c.981C>A (p.Ile327=) n.5922C>A n.755C>A c.6030C>A (p.Ile2010=) n.5736C>A c.6339C>A (p.Ile2113=) c.5532C>A (p.Ile1844=) n.481C>A c.1833C>A (p.Ile611=) c.5919C>A (p.Ile1973=) c.5283C>A (p.Ile1761=) c.2073C>A (p.Ile691=) | |
| 5 | g.177292034C>G | CA362320455 | NSD1 | c.5466C>G (p.Ile1822Met) c.981C>G (p.Ile327Met) n.5922C>G n.755C>G c.6030C>G (p.Ile2010Met) n.5736C>G c.6339C>G (p.Ile2113Met) c.5532C>G (p.Ile1844Met) n.481C>G c.1833C>G (p.Ile611Met) c.5919C>G (p.Ile1973Met) c.5283C>G (p.Ile1761Met) c.2073C>G (p.Ile691Met) | dbSNP |
| 5 | g.177292034C>T | CA447740730 | NSD1 | c.5466C>T (p.Ile1822=) c.981C>T (p.Ile327=) n.5922C>T n.755C>T c.6030C>T (p.Ile2010=) n.5736C>T c.6339C>T (p.Ile2113=) c.5532C>T (p.Ile1844=) n.481C>T c.1833C>T (p.Ile611=) c.5919C>T (p.Ile1973=) c.5283C>T (p.Ile1761=) c.2073C>T (p.Ile691=) | |
| 5 | g.177292035A>C | CA362320458 | NSD1 | c.5467A>C (p.Thr1823Pro) c.982A>C (p.Thr328Pro) n.5923A>C n.756A>C c.6031A>C (p.Thr2011Pro) n.5737A>C c.6340A>C (p.Thr2114Pro) c.5533A>C (p.Thr1845Pro) n.482A>C c.1834A>C (p.Thr612Pro) c.5920A>C (p.Thr1974Pro) c.5284A>C (p.Thr1762Pro) c.2074A>C (p.Thr692Pro) | |
| 5 | g.177292035A>G | CA362320461 | NSD1 | c.5467A>G (p.Thr1823Ala) c.982A>G (p.Thr328Ala) n.5923A>G n.756A>G c.6031A>G (p.Thr2011Ala) n.5737A>G c.6340A>G (p.Thr2114Ala) c.5533A>G (p.Thr1845Ala) n.482A>G c.1834A>G (p.Thr612Ala) c.5920A>G (p.Thr1974Ala) c.5284A>G (p.Thr1762Ala) c.2074A>G (p.Thr692Ala) | |
| 5 | g.177292035A>T | CA362320463 | NSD1 | c.5467A>T (p.Thr1823Ser) c.982A>T (p.Thr328Ser) n.5923A>T n.756A>T c.6031A>T (p.Thr2011Ser) n.5737A>T c.6340A>T (p.Thr2114Ser) c.5533A>T (p.Thr1845Ser) n.482A>T c.1834A>T (p.Thr612Ser) c.5920A>T (p.Thr1974Ser) c.5284A>T (p.Thr1762Ser) c.2074A>T (p.Thr692Ser) | |
| 5 | g.177292036C>A | CA362320466 | NSD1 | c.5468C>A (p.Thr1823Lys) c.983C>A (p.Thr328Lys) n.5924C>A n.757C>A c.6032C>A (p.Thr2011Lys) n.5738C>A c.6341C>A (p.Thr2114Lys) c.5534C>A (p.Thr1845Lys) n.483C>A c.1835C>A (p.Thr612Lys) c.5921C>A (p.Thr1974Lys) c.5285C>A (p.Thr1762Lys) c.2075C>A (p.Thr692Lys) | |
| 5 | g.177292036C= | CA1603532807 | NSD1 | c.5468C= (p.Thr1823=) c.983C= (p.Thr328=) n.5924C= n.757C= c.6032C= (p.Thr2011=) n.5738C= c.6341C= (p.Thr2114=) c.5534C= (p.Thr1845=) n.483C= c.1835C= (p.Thr612=) c.5921C= (p.Thr1974=) c.5285C= (p.Thr1762=) c.2075C= (p.Thr692=) | |
| 5 | g.177292036C>G | CA132861307 | NSD1 | c.5468C>G (p.Thr1823Arg) c.983C>G (p.Thr328Arg) n.5924C>G n.757C>G c.6032C>G (p.Thr2011Arg) n.5738C>G c.6341C>G (p.Thr2114Arg) c.5534C>G (p.Thr1845Arg) n.483C>G c.1835C>G (p.Thr612Arg) c.5921C>G (p.Thr1974Arg) c.5285C>G (p.Thr1762Arg) c.2075C>G (p.Thr692Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177292036C>T | CA362320468 | NSD1 | c.5468C>T (p.Thr1823Ile) c.983C>T (p.Thr328Ile) n.5924C>T n.757C>T c.6032C>T (p.Thr2011Ile) n.5738C>T c.6341C>T (p.Thr2114Ile) c.5534C>T (p.Thr1845Ile) n.483C>T c.1835C>T (p.Thr612Ile) c.5921C>T (p.Thr1974Ile) c.5285C>T (p.Thr1762Ile) c.2075C>T (p.Thr692Ile) | gnomAD v4 |
| 5 | g.177292037A>C | CA447740731 | NSD1 | c.5469A>C (p.Thr1823=) c.984A>C (p.Thr328=) n.5925A>C n.758A>C c.6033A>C (p.Thr2011=) n.5739A>C c.6342A>C (p.Thr2114=) c.5535A>C (p.Thr1845=) n.484A>C c.1836A>C (p.Thr612=) c.5922A>C (p.Thr1974=) c.5286A>C (p.Thr1762=) c.2076A>C (p.Thr692=) | |
| 5 | g.177292037A>G | CA447740732 | NSD1 | c.5469A>G (p.Thr1823=) c.984A>G (p.Thr328=) n.5925A>G n.758A>G c.6033A>G (p.Thr2011=) n.5739A>G c.6342A>G (p.Thr2114=) c.5535A>G (p.Thr1845=) n.484A>G c.1836A>G (p.Thr612=) c.5922A>G (p.Thr1974=) c.5286A>G (p.Thr1762=) c.2076A>G (p.Thr692=) | gnomAD v4 |
| 5 | g.177292037A>T | CA447740733 | NSD1 | c.5469A>T (p.Thr1823=) c.984A>T (p.Thr328=) n.5925A>T n.758A>T c.6033A>T (p.Thr2011=) n.5739A>T c.6342A>T (p.Thr2114=) c.5535A>T (p.Thr1845=) n.484A>T c.1836A>T (p.Thr612=) c.5922A>T (p.Thr1974=) c.5286A>T (p.Thr1762=) c.2076A>T (p.Thr692=) | |
| 5 | g.177292039dup | CA319729 | NSD1 | c.5471dup (p.Glu1825GlyfsTer5) c.986dup (p.Glu330GlyfsTer5) n.5927dup n.760dup c.6035dup (p.Glu2013GlyfsTer5) n.5741dup c.6344dup (p.Glu2116GlyfsTer5) c.5537dup (p.Glu1847GlyfsTer5) n.486dup c.1838dup (p.Glu614GlyfsTer5) c.5924dup (p.Glu1976GlyfsTer5) c.5288dup (p.Glu1764GlyfsTer5) c.2078dup (p.Glu694GlyfsTer5) | ClinVar dbSNP |
| 5 | g.177292038A>C | CA362320476 | NSD1 | c.5470A>C (p.Lys1824Gln) c.985A>C (p.Lys329Gln) n.5926A>C n.759A>C c.6034A>C (p.Lys2012Gln) n.5740A>C c.6343A>C (p.Lys2115Gln) c.5536A>C (p.Lys1846Gln) n.485A>C c.1837A>C (p.Lys613Gln) c.5923A>C (p.Lys1975Gln) c.5287A>C (p.Lys1763Gln) c.2077A>C (p.Lys693Gln) | |
| 5 | g.177292038A>G | CA362320474 | NSD1 | c.5470A>G (p.Lys1824Glu) c.985A>G (p.Lys329Glu) n.5926A>G n.759A>G c.6034A>G (p.Lys2012Glu) n.5740A>G c.6343A>G (p.Lys2115Glu) c.5536A>G (p.Lys1846Glu) n.485A>G c.1837A>G (p.Lys613Glu) c.5923A>G (p.Lys1975Glu) c.5287A>G (p.Lys1763Glu) c.2077A>G (p.Lys693Glu) | gnomAD v4 |
| 5 | g.177292038A>T | CA362320473 | NSD1 | c.5470A>T (p.Lys1824Ter) c.985A>T (p.Lys329Ter) n.5926A>T n.759A>T c.6034A>T (p.Lys2012Ter) n.5740A>T c.6343A>T (p.Lys2115Ter) c.5536A>T (p.Lys1846Ter) n.485A>T c.1837A>T (p.Lys613Ter) c.5923A>T (p.Lys1975Ter) c.5287A>T (p.Lys1763Ter) c.2077A>T (p.Lys693Ter) |