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.177292049_177292051del | CA891862600 | NSD1 | c.5481_5483del (p.Glu1827del) c.996_998del (p.Glu332del) n.5937_5939del n.770_772del c.6045_6047del (p.Glu2015del) n.5751_5753del c.6354_6356del (p.Glu2118del) c.5547_5549del (p.Glu1849del) n.496_498del c.1848_1850del (p.Glu616del) c.5934_5936del (p.Glu1978del) c.5298_5300del (p.Glu1766del) c.2088_2090del (p.Glu696del) | |
| 5 | g.177292050G>A | CA362320524 | NSD1 | c.5482G>A (p.Asp1828Asn) c.997G>A (p.Asp333Asn) n.5938G>A n.771G>A c.6046G>A (p.Asp2016Asn) n.5752G>A c.6355G>A (p.Asp2119Asn) c.5548G>A (p.Asp1850Asn) n.497G>A c.1849G>A (p.Asp617Asn) c.5935G>A (p.Asp1979Asn) c.5299G>A (p.Asp1767Asn) c.2089G>A (p.Asp697Asn) | ClinVar dbSNP gnomAD v4 |
| 5 | g.177292050G>C | CA362320526 | NSD1 | c.5482G>C (p.Asp1828His) c.997G>C (p.Asp333His) n.5938G>C n.771G>C c.6046G>C (p.Asp2016His) n.5752G>C c.6355G>C (p.Asp2119His) c.5548G>C (p.Asp1850His) n.497G>C c.1849G>C (p.Asp617His) c.5935G>C (p.Asp1979His) c.5299G>C (p.Asp1767His) c.2089G>C (p.Asp697His) | |
| 5 | g.177292050G= | CA1603532830 | NSD1 | c.5482G= (p.Asp1828=) c.997G= (p.Asp333=) n.5938G= n.771G= c.6046G= (p.Asp2016=) n.5752G= c.6355G= (p.Asp2119=) c.5548G= (p.Asp1850=) n.497G= c.1849G= (p.Asp617=) c.5935G= (p.Asp1979=) c.5299G= (p.Asp1767=) c.2089G= (p.Asp697=) | |
| 5 | g.177292050G>T | CA362320523 | NSD1 | c.5482G>T (p.Asp1828Tyr) c.997G>T (p.Asp333Tyr) n.5938G>T n.771G>T c.6046G>T (p.Asp2016Tyr) n.5752G>T c.6355G>T (p.Asp2119Tyr) c.5548G>T (p.Asp1850Tyr) n.497G>T c.1849G>T (p.Asp617Tyr) c.5935G>T (p.Asp1979Tyr) c.5299G>T (p.Asp1767Tyr) c.2089G>T (p.Asp697Tyr) | dbSNP |
| 5 | g.177292051del | CA2695205736 | NSD1 | c.5483del (p.Asp1828ValfsTer?) c.998del (p.Asp333ValfsTer?) n.5939del n.772del c.6047del (p.Asp2016ValfsTer?) n.5753del c.6356del (p.Asp2119ValfsTer?) c.5549del (p.Asp1850ValfsTer?) n.498del c.1850del (p.Asp617ValfsTer?) c.5936del (p.Asp1979ValfsTer?) c.5300del (p.Asp1767ValfsTer?) c.2090del (p.Asp697ValfsTer?) | |
| 5 | g.177292051A= | CA1603532836 | NSD1 | c.5483A= (p.Asp1828=) c.998A= (p.Asp333=) n.5939A= n.772A= c.6047A= (p.Asp2016=) n.5753A= c.6356A= (p.Asp2119=) c.5549A= (p.Asp1850=) n.498A= c.1850A= (p.Asp617=) c.5936A= (p.Asp1979=) c.5300A= (p.Asp1767=) c.2090A= (p.Asp697=) | |
| 5 | g.177292051A>C | CA362320530 | NSD1 | c.5483A>C (p.Asp1828Ala) c.998A>C (p.Asp333Ala) n.5939A>C n.772A>C c.6047A>C (p.Asp2016Ala) n.5753A>C c.6356A>C (p.Asp2119Ala) c.5549A>C (p.Asp1850Ala) n.498A>C c.1850A>C (p.Asp617Ala) c.5936A>C (p.Asp1979Ala) c.5300A>C (p.Asp1767Ala) c.2090A>C (p.Asp697Ala) | |
| 5 | g.177292051A>G | CA295062 | NSD1 | c.5483A>G (p.Asp1828Gly) c.998A>G (p.Asp333Gly) n.5939A>G n.772A>G c.6047A>G (p.Asp2016Gly) n.5753A>G c.6356A>G (p.Asp2119Gly) c.5549A>G (p.Asp1850Gly) n.498A>G c.1850A>G (p.Asp617Gly) c.5936A>G (p.Asp1979Gly) c.5300A>G (p.Asp1767Gly) c.2090A>G (p.Asp697Gly) | ClinVar dbSNP |
| 5 | g.177292051A>T | CA362320529 | NSD1 | c.5483A>T (p.Asp1828Val) c.998A>T (p.Asp333Val) n.5939A>T n.772A>T c.6047A>T (p.Asp2016Val) n.5753A>T c.6356A>T (p.Asp2119Val) c.5549A>T (p.Asp1850Val) n.498A>T c.1850A>T (p.Asp617Val) c.5936A>T (p.Asp1979Val) c.5300A>T (p.Asp1767Val) c.2090A>T (p.Asp697Val) | |
| 5 | g.177292052T>A | CA362320531 | NSD1 | c.5484T>A (p.Asp1828Glu) c.999T>A (p.Asp333Glu) n.5940T>A n.773T>A c.6048T>A (p.Asp2016Glu) n.5754T>A c.6357T>A (p.Asp2119Glu) c.5550T>A (p.Asp1850Glu) n.499T>A c.1851T>A (p.Asp617Glu) c.5937T>A (p.Asp1979Glu) c.5301T>A (p.Asp1767Glu) c.2091T>A (p.Asp697Glu) | |
| 5 | g.177292052T>C | CA447740742 | NSD1 | c.5484T>C (p.Asp1828=) c.999T>C (p.Asp333=) n.5940T>C n.773T>C c.6048T>C (p.Asp2016=) n.5754T>C c.6357T>C (p.Asp2119=) c.5550T>C (p.Asp1850=) n.499T>C c.1851T>C (p.Asp617=) c.5937T>C (p.Asp1979=) c.5301T>C (p.Asp1767=) c.2091T>C (p.Asp697=) | |
| 5 | g.177292052T>G | CA362320533 | NSD1 | c.5484T>G (p.Asp1828Glu) c.999T>G (p.Asp333Glu) n.5940T>G n.773T>G c.6048T>G (p.Asp2016Glu) n.5754T>G c.6357T>G (p.Asp2119Glu) c.5550T>G (p.Asp1850Glu) n.499T>G c.1851T>G (p.Asp617Glu) c.5937T>G (p.Asp1979Glu) c.5301T>G (p.Asp1767Glu) c.2091T>G (p.Asp697Glu) | gnomAD v4 |
| 5 | g.177292053G>A | CA362320535 | NSD1 | c.5485G>A (p.Glu1829Lys) c.1000G>A (p.Glu334Lys) n.5941G>A n.774G>A c.6049G>A (p.Glu2017Lys) n.5755G>A c.6358G>A (p.Glu2120Lys) c.5551G>A (p.Glu1851Lys) n.500G>A c.1852G>A (p.Glu618Lys) c.5938G>A (p.Glu1980Lys) c.5302G>A (p.Glu1768Lys) c.2092G>A (p.Glu698Lys) | dbSNP |
| 5 | g.177292053G>C | CA362320536 | NSD1 | c.5485G>C (p.Glu1829Gln) c.1000G>C (p.Glu334Gln) n.5941G>C n.774G>C c.6049G>C (p.Glu2017Gln) n.5755G>C c.6358G>C (p.Glu2120Gln) c.5551G>C (p.Glu1851Gln) n.500G>C c.1852G>C (p.Glu618Gln) c.5938G>C (p.Glu1980Gln) c.5302G>C (p.Glu1768Gln) c.2092G>C (p.Glu698Gln) | |
| 5 | g.177292053G= | CA1603532841 | NSD1 | c.5485G= (p.Glu1829=) c.1000G= (p.Glu334=) n.5941G= n.774G= c.6049G= (p.Glu2017=) n.5755G= c.6358G= (p.Glu2120=) c.5551G= (p.Glu1851=) n.500G= c.1852G= (p.Glu618=) c.5938G= (p.Glu1980=) c.5302G= (p.Glu1768=) c.2092G= (p.Glu698=) | |
| 5 | g.177292053G>T | CA362320538 | NSD1 | c.5485G>T (p.Glu1829Ter) c.1000G>T (p.Glu334Ter) n.5941G>T n.774G>T c.6049G>T (p.Glu2017Ter) n.5755G>T c.6358G>T (p.Glu2120Ter) c.5551G>T (p.Glu1851Ter) n.500G>T c.1852G>T (p.Glu618Ter) c.5938G>T (p.Glu1980Ter) c.5302G>T (p.Glu1768Ter) c.2092G>T (p.Glu698Ter) | ClinVar dbSNP |
| 5 | g.177292054A>C | CA362320540 | NSD1 | c.5486A>C (p.Glu1829Ala) c.1001A>C (p.Glu334Ala) n.5942A>C n.775A>C c.6050A>C (p.Glu2017Ala) n.5756A>C c.6359A>C (p.Glu2120Ala) c.5552A>C (p.Glu1851Ala) n.501A>C c.1853A>C (p.Glu618Ala) c.5939A>C (p.Glu1980Ala) c.5303A>C (p.Glu1768Ala) c.2093A>C (p.Glu698Ala) | |
| 5 | g.177292054A>G | CA362320542 | NSD1 | c.5486A>G (p.Glu1829Gly) c.1001A>G (p.Glu334Gly) n.5942A>G n.775A>G c.6050A>G (p.Glu2017Gly) n.5756A>G c.6359A>G (p.Glu2120Gly) c.5552A>G (p.Glu1851Gly) n.501A>G c.1853A>G (p.Glu618Gly) c.5939A>G (p.Glu1980Gly) c.5303A>G (p.Glu1768Gly) c.2093A>G (p.Glu698Gly) | |
| 5 | g.177292054A>T | CA362320543 | NSD1 | c.5486A>T (p.Glu1829Val) c.1001A>T (p.Glu334Val) n.5942A>T n.775A>T c.6050A>T (p.Glu2017Val) n.5756A>T c.6359A>T (p.Glu2120Val) c.5552A>T (p.Glu1851Val) n.501A>T c.1853A>T (p.Glu618Val) c.5939A>T (p.Glu1980Val) c.5303A>T (p.Glu1768Val) c.2093A>T (p.Glu698Val) | |
| 5 | g.177292055G>A | CA447740743 | NSD1 | c.5487G>A (p.Glu1829=) c.1002G>A (p.Glu334=) n.5943G>A n.776G>A c.6051G>A (p.Glu2017=) n.5757G>A c.6360G>A (p.Glu2120=) c.5553G>A (p.Glu1851=) n.502G>A c.1854G>A (p.Glu618=) c.5940G>A (p.Glu1980=) c.5304G>A (p.Glu1768=) c.2094G>A (p.Glu698=) | gnomAD v4 |
| 5 | g.177292055G>C | CA362320546 | NSD1 | c.5487G>C (p.Glu1829Asp) c.1002G>C (p.Glu334Asp) n.5943G>C n.776G>C c.6051G>C (p.Glu2017Asp) n.5757G>C c.6360G>C (p.Glu2120Asp) c.5553G>C (p.Glu1851Asp) n.502G>C c.1854G>C (p.Glu618Asp) c.5940G>C (p.Glu1980Asp) c.5304G>C (p.Glu1768Asp) c.2094G>C (p.Glu698Asp) | |
| 5 | g.177292055G>T | CA362320548 | NSD1 | c.5487G>T (p.Glu1829Asp) c.1002G>T (p.Glu334Asp) n.5943G>T n.776G>T c.6051G>T (p.Glu2017Asp) n.5757G>T c.6360G>T (p.Glu2120Asp) c.5553G>T (p.Glu1851Asp) n.502G>T c.1854G>T (p.Glu618Asp) c.5940G>T (p.Glu1980Asp) c.5304G>T (p.Glu1768Asp) c.2094G>T (p.Glu698Asp) | |
| 5 | g.177292056T>A | CA362320556 | NSD1 | c.5488T>A (p.Cys1830Ser) c.1003T>A (p.Cys335Ser) n.5944T>A n.777T>A c.6052T>A (p.Cys2018Ser) n.5758T>A c.6361T>A (p.Cys2121Ser) c.5554T>A (p.Cys1852Ser) n.503T>A c.1855T>A (p.Cys619Ser) c.5941T>A (p.Cys1981Ser) c.5305T>A (p.Cys1769Ser) c.2095T>A (p.Cys699Ser) | |
| 5 | g.177292056T>C | CA362320554 | NSD1 | c.5488T>C (p.Cys1830Arg) c.1003T>C (p.Cys335Arg) n.5944T>C n.777T>C c.6052T>C (p.Cys2018Arg) n.5758T>C c.6361T>C (p.Cys2121Arg) c.5554T>C (p.Cys1852Arg) n.503T>C c.1855T>C (p.Cys619Arg) c.5941T>C (p.Cys1981Arg) c.5305T>C (p.Cys1769Arg) c.2095T>C (p.Cys699Arg) | |
| 5 | g.177292056T>G | CA362320553 | NSD1 | c.5488T>G (p.Cys1830Gly) c.1003T>G (p.Cys335Gly) n.5944T>G n.777T>G c.6052T>G (p.Cys2018Gly) n.5758T>G c.6361T>G (p.Cys2121Gly) c.5554T>G (p.Cys1852Gly) n.503T>G c.1855T>G (p.Cys619Gly) c.5941T>G (p.Cys1981Gly) c.5305T>G (p.Cys1769Gly) c.2095T>G (p.Cys699Gly) | |
| 5 | g.177292057G>A | CA362320559 | NSD1 | c.5489G>A (p.Cys1830Tyr) c.1004G>A (p.Cys335Tyr) n.5945G>A n.778G>A c.6053G>A (p.Cys2018Tyr) n.5759G>A c.6362G>A (p.Cys2121Tyr) c.5555G>A (p.Cys1852Tyr) n.504G>A c.1856G>A (p.Cys619Tyr) c.5942G>A (p.Cys1981Tyr) c.5306G>A (p.Cys1769Tyr) c.2096G>A (p.Cys699Tyr) | dbSNP |
| 5 | g.177292057G>C | CA362320562 | NSD1 | c.5489G>C (p.Cys1830Ser) c.1004G>C (p.Cys335Ser) n.5945G>C n.778G>C c.6053G>C (p.Cys2018Ser) n.5759G>C c.6362G>C (p.Cys2121Ser) c.5555G>C (p.Cys1852Ser) n.504G>C c.1856G>C (p.Cys619Ser) c.5942G>C (p.Cys1981Ser) c.5306G>C (p.Cys1769Ser) c.2096G>C (p.Cys699Ser) | |
| 5 | g.177292057G>T | CA362320564 | NSD1 | c.5489G>T (p.Cys1830Phe) c.1004G>T (p.Cys335Phe) n.5945G>T n.778G>T c.6053G>T (p.Cys2018Phe) n.5759G>T c.6362G>T (p.Cys2121Phe) c.5555G>T (p.Cys1852Phe) n.504G>T c.1856G>T (p.Cys619Phe) c.5942G>T (p.Cys1981Phe) c.5306G>T (p.Cys1769Phe) c.2096G>T (p.Cys699Phe) | |
| 5 | g.177292057_177292058delinsGT | CA1603532847 | NSD1 | c.5489_5490delinsGT (p.Cys1830=) c.1004_1005delinsGT (p.Cys335=) n.5945_5946delinsGT n.778_779delinsGT c.6053_6054delinsGT (p.Cys2018=) n.5759_5760delinsGT c.6362_6363delinsGT (p.Cys2121=) c.5555_5556delinsGT (p.Cys1852=) n.504_505delinsGT c.1856_1857delinsGT (p.Cys619=) c.5942_5943delinsGT (p.Cys1981=) c.5306_5307delinsGT (p.Cys1769=) c.2096_2097delinsGT (p.Cys699=) | |
| 5 | g.177292058T>A | CA362320570 | NSD1 | c.5490T>A (p.Cys1830Ter) c.1005T>A (p.Cys335Ter) n.5946T>A n.779T>A c.6054T>A (p.Cys2018Ter) n.5760T>A c.6363T>A (p.Cys2121Ter) c.5556T>A (p.Cys1852Ter) n.505T>A c.1857T>A (p.Cys619Ter) c.5943T>A (p.Cys1981Ter) c.5307T>A (p.Cys1769Ter) c.2097T>A (p.Cys699Ter) | |
| 5 | g.177292058T>C | CA447740744 | NSD1 | c.5490T>C (p.Cys1830=) c.1005T>C (p.Cys335=) n.5946T>C n.779T>C c.6054T>C (p.Cys2018=) n.5760T>C c.6363T>C (p.Cys2121=) c.5556T>C (p.Cys1852=) n.505T>C c.1857T>C (p.Cys619=) c.5943T>C (p.Cys1981=) c.5307T>C (p.Cys1769=) c.2097T>C (p.Cys699=) | |
| 5 | g.177292058T>G | CA362320573 | NSD1 | c.5490T>G (p.Cys1830Trp) c.1005T>G (p.Cys335Trp) n.5946T>G n.779T>G c.6054T>G (p.Cys2018Trp) n.5760T>G c.6363T>G (p.Cys2121Trp) c.5556T>G (p.Cys1852Trp) n.505T>G c.1857T>G (p.Cys619Trp) c.5943T>G (p.Cys1981Trp) c.5307T>G (p.Cys1769Trp) c.2097T>G (p.Cys699Trp) | |
| 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.177292059T>A | CA362320580 | NSD1 | c.5491T>A (p.Phe1831Ile) c.1006T>A (p.Phe336Ile) n.5947T>A n.780T>A c.6055T>A (p.Phe2019Ile) n.5761T>A c.6364T>A (p.Phe2122Ile) c.5557T>A (p.Phe1853Ile) n.506T>A c.1858T>A (p.Phe620Ile) c.5944T>A (p.Phe1982Ile) c.5308T>A (p.Phe1770Ile) c.2098T>A (p.Phe700Ile) | |
| 5 | g.177292059T>C | CA362320583 | NSD1 | c.5491T>C (p.Phe1831Leu) c.1006T>C (p.Phe336Leu) n.5947T>C n.780T>C c.6055T>C (p.Phe2019Leu) n.5761T>C c.6364T>C (p.Phe2122Leu) c.5557T>C (p.Phe1853Leu) n.506T>C c.1858T>C (p.Phe620Leu) c.5944T>C (p.Phe1982Leu) c.5308T>C (p.Phe1770Leu) c.2098T>C (p.Phe700Leu) | |
| 5 | g.177292059T>G | CA362320585 | NSD1 | c.5491T>G (p.Phe1831Val) c.1006T>G (p.Phe336Val) n.5947T>G n.780T>G c.6055T>G (p.Phe2019Val) n.5761T>G c.6364T>G (p.Phe2122Val) c.5557T>G (p.Phe1853Val) n.506T>G c.1858T>G (p.Phe620Val) c.5944T>G (p.Phe1982Val) c.5308T>G (p.Phe1770Val) c.2098T>G (p.Phe700Val) | COSMIC COSMIC |
| 5 | g.177292060T>A | CA362320588 | NSD1 | c.5492T>A (p.Phe1831Tyr) c.1007T>A (p.Phe336Tyr) n.5948T>A n.781T>A c.6056T>A (p.Phe2019Tyr) n.5762T>A c.6365T>A (p.Phe2122Tyr) c.5558T>A (p.Phe1853Tyr) n.507T>A c.1859T>A (p.Phe620Tyr) c.5945T>A (p.Phe1982Tyr) c.5309T>A (p.Phe1770Tyr) c.2099T>A (p.Phe700Tyr) | |
| 5 | g.177292060T>C | CA362320591 | NSD1 | c.5492T>C (p.Phe1831Ser) c.1007T>C (p.Phe336Ser) n.5948T>C n.781T>C c.6056T>C (p.Phe2019Ser) n.5762T>C c.6365T>C (p.Phe2122Ser) c.5558T>C (p.Phe1853Ser) n.507T>C c.1859T>C (p.Phe620Ser) c.5945T>C (p.Phe1982Ser) c.5309T>C (p.Phe1770Ser) c.2099T>C (p.Phe700Ser) | |
| 5 | g.177292060T>G | CA362320593 | NSD1 | c.5492T>G (p.Phe1831Cys) c.1007T>G (p.Phe336Cys) n.5948T>G n.781T>G c.6056T>G (p.Phe2019Cys) n.5762T>G c.6365T>G (p.Phe2122Cys) c.5558T>G (p.Phe1853Cys) n.507T>G c.1859T>G (p.Phe620Cys) c.5945T>G (p.Phe1982Cys) c.5309T>G (p.Phe1770Cys) c.2099T>G (p.Phe700Cys) | |
| 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 |