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.177283845_177284102del | CA2499217787 | NSD1 | c.5195_5278+174del c.710_793+174del n.5651_5734+174del c.5759_5842+174del n.5465_5548+174del n.6215_6472del n.4617_4874del c.6068_6151+174del c.5261_5344+174del c.1562_1645+174del c.5648_5731+174del c.5012_5095+174del c.1802_1885+174del | ClinVar dbSNP |
| 5 | g.177283873G>A | CA362316537 | NSD1 | c.5223G>A (p.Trp1741Ter) c.738G>A (p.Trp246Ter) n.5679G>A c.5787G>A (p.Trp1929Ter) n.5493G>A n.6243G>A n.4645G>A c.6096G>A (p.Trp2032Ter) c.5289G>A (p.Trp1763Ter) c.1590G>A (p.Trp530Ter) c.5676G>A (p.Trp1892Ter) c.5040G>A (p.Trp1680Ter) c.1830G>A (p.Trp610Ter) | |
| 5 | g.177283873G>C | CA362316539 | NSD1 | c.5223G>C (p.Trp1741Cys) c.738G>C (p.Trp246Cys) n.5679G>C c.5787G>C (p.Trp1929Cys) n.5493G>C n.6243G>C n.4645G>C c.6096G>C (p.Trp2032Cys) c.5289G>C (p.Trp1763Cys) c.1590G>C (p.Trp530Cys) c.5676G>C (p.Trp1892Cys) c.5040G>C (p.Trp1680Cys) c.1830G>C (p.Trp610Cys) | ClinVar dbSNP |
| 5 | g.177283873G= | CA1603553614 | NSD1 | c.5223G= (p.Trp1741=) c.738G= (p.Trp246=) n.5679G= c.5787G= (p.Trp1929=) n.5493G= n.6243G= n.4645G= c.6096G= (p.Trp2032=) c.5289G= (p.Trp1763=) c.1590G= (p.Trp530=) c.5676G= (p.Trp1892=) c.5040G= (p.Trp1680=) c.1830G= (p.Trp610=) | |
| 5 | g.177283873G>T | CA362316541 | NSD1 | c.5223G>T (p.Trp1741Cys) c.738G>T (p.Trp246Cys) n.5679G>T c.5787G>T (p.Trp1929Cys) n.5493G>T n.6243G>T n.4645G>T c.6096G>T (p.Trp2032Cys) c.5289G>T (p.Trp1763Cys) c.1590G>T (p.Trp530Cys) c.5676G>T (p.Trp1892Cys) c.5040G>T (p.Trp1680Cys) c.1830G>T (p.Trp610Cys) | |
| 5 | g.177283874T>A | CA362316544 | NSD1 | c.5224T>A (p.Ser1742Thr) c.739T>A (p.Ser247Thr) n.5680T>A c.5788T>A (p.Ser1930Thr) n.5494T>A n.6244T>A n.4646T>A c.6097T>A (p.Ser2033Thr) c.5290T>A (p.Ser1764Thr) c.1591T>A (p.Ser531Thr) c.5677T>A (p.Ser1893Thr) c.5041T>A (p.Ser1681Thr) c.1831T>A (p.Ser611Thr) | dbSNP |
| 5 | g.177283874T>C | CA362316546 | NSD1 | c.5224T>C (p.Ser1742Pro) c.739T>C (p.Ser247Pro) n.5680T>C c.5788T>C (p.Ser1930Pro) n.5494T>C n.6244T>C n.4646T>C c.6097T>C (p.Ser2033Pro) c.5290T>C (p.Ser1764Pro) c.1591T>C (p.Ser531Pro) c.5677T>C (p.Ser1893Pro) c.5041T>C (p.Ser1681Pro) c.1831T>C (p.Ser611Pro) | |
| 5 | g.177283874T>G | CA362316548 | NSD1 | c.5224T>G (p.Ser1742Ala) c.739T>G (p.Ser247Ala) n.5680T>G c.5788T>G (p.Ser1930Ala) n.5494T>G n.6244T>G n.4646T>G c.6097T>G (p.Ser2033Ala) c.5290T>G (p.Ser1764Ala) c.1591T>G (p.Ser531Ala) c.5677T>G (p.Ser1893Ala) c.5041T>G (p.Ser1681Ala) c.1831T>G (p.Ser611Ala) | |
| 5 | g.177283875C>A | CA362316551 | NSD1 | c.5225C>A (p.Ser1742Tyr) c.740C>A (p.Ser247Tyr) n.5681C>A c.5789C>A (p.Ser1930Tyr) n.5495C>A n.6245C>A n.4647C>A c.6098C>A (p.Ser2033Tyr) c.5291C>A (p.Ser1764Tyr) c.1592C>A (p.Ser531Tyr) c.5678C>A (p.Ser1893Tyr) c.5042C>A (p.Ser1681Tyr) c.1832C>A (p.Ser611Tyr) | dbSNP |
| 5 | g.177283875C>G | CA362316553 | NSD1 | c.5225C>G (p.Ser1742Cys) c.740C>G (p.Ser247Cys) n.5681C>G c.5789C>G (p.Ser1930Cys) n.5495C>G n.6245C>G n.4647C>G c.6098C>G (p.Ser2033Cys) c.5291C>G (p.Ser1764Cys) c.1592C>G (p.Ser531Cys) c.5678C>G (p.Ser1893Cys) c.5042C>G (p.Ser1681Cys) c.1832C>G (p.Ser611Cys) | dbSNP |
| 5 | g.177283875C>T | CA362316555 | NSD1 | c.5225C>T (p.Ser1742Phe) c.740C>T (p.Ser247Phe) n.5681C>T c.5789C>T (p.Ser1930Phe) n.5495C>T n.6245C>T n.4647C>T c.6098C>T (p.Ser2033Phe) c.5291C>T (p.Ser1764Phe) c.1592C>T (p.Ser531Phe) c.5678C>T (p.Ser1893Phe) c.5042C>T (p.Ser1681Phe) c.1832C>T (p.Ser611Phe) | |
| 5 | g.177283876T>A | CA447738580 | NSD1 | c.5226T>A (p.Ser1742=) c.741T>A (p.Ser247=) n.5682T>A c.5790T>A (p.Ser1930=) n.5496T>A n.6246T>A n.4648T>A c.6099T>A (p.Ser2033=) c.5292T>A (p.Ser1764=) c.1593T>A (p.Ser531=) c.5679T>A (p.Ser1893=) c.5043T>A (p.Ser1681=) c.1833T>A (p.Ser611=) | |
| 5 | g.177283876T>C | CA447738582 | NSD1 | c.5226T>C (p.Ser1742=) c.741T>C (p.Ser247=) n.5682T>C c.5790T>C (p.Ser1930=) n.5496T>C n.6246T>C n.4648T>C c.6099T>C (p.Ser2033=) c.5292T>C (p.Ser1764=) c.1593T>C (p.Ser531=) c.5679T>C (p.Ser1893=) c.5043T>C (p.Ser1681=) c.1833T>C (p.Ser611=) | |
| 5 | g.177283876T>G | CA447738584 | NSD1 | c.5226T>G (p.Ser1742=) c.741T>G (p.Ser247=) n.5682T>G c.5790T>G (p.Ser1930=) n.5496T>G n.6246T>G n.4648T>G c.6099T>G (p.Ser2033=) c.5292T>G (p.Ser1764=) c.1593T>G (p.Ser531=) c.5679T>G (p.Ser1893=) c.5043T>G (p.Ser1681=) c.1833T>G (p.Ser611=) | |
| 5 | g.177283877G>A | CA362316557 | NSD1 | c.5227G>A (p.Val1743Met) c.742G>A (p.Val248Met) n.5683G>A c.5791G>A (p.Val1931Met) n.5497G>A n.6247G>A n.4649G>A c.6100G>A (p.Val2034Met) c.5293G>A (p.Val1765Met) c.1594G>A (p.Val532Met) c.5680G>A (p.Val1894Met) c.5044G>A (p.Val1682Met) c.1834G>A (p.Val612Met) | |
| 5 | g.177283877G>C | CA362316560 | NSD1 | c.5227G>C (p.Val1743Leu) c.742G>C (p.Val248Leu) n.5683G>C c.5791G>C (p.Val1931Leu) n.5497G>C n.6247G>C n.4649G>C c.6100G>C (p.Val2034Leu) c.5293G>C (p.Val1765Leu) c.1594G>C (p.Val532Leu) c.5680G>C (p.Val1894Leu) c.5044G>C (p.Val1682Leu) c.1834G>C (p.Val612Leu) | |
| 5 | g.177283877G>T | CA362316558 | NSD1 | c.5227G>T (p.Val1743Leu) c.742G>T (p.Val248Leu) n.5683G>T c.5791G>T (p.Val1931Leu) n.5497G>T n.6247G>T n.4649G>T c.6100G>T (p.Val2034Leu) c.5293G>T (p.Val1765Leu) c.1594G>T (p.Val532Leu) c.5680G>T (p.Val1894Leu) c.5044G>T (p.Val1682Leu) c.1834G>T (p.Val612Leu) | |
| 5 | g.177283878T>A | CA362316562 | NSD1 | c.5228T>A (p.Val1743Glu) c.743T>A (p.Val248Glu) n.5684T>A c.5792T>A (p.Val1931Glu) n.5498T>A n.6248T>A n.4650T>A c.6101T>A (p.Val2034Glu) c.5294T>A (p.Val1765Glu) c.1595T>A (p.Val532Glu) c.5681T>A (p.Val1894Glu) c.5045T>A (p.Val1682Glu) c.1835T>A (p.Val612Glu) | |
| 5 | g.177283878T>C | CA362316566 | NSD1 | c.5228T>C (p.Val1743Ala) c.743T>C (p.Val248Ala) n.5684T>C c.5792T>C (p.Val1931Ala) n.5498T>C n.6248T>C n.4650T>C c.6101T>C (p.Val2034Ala) c.5294T>C (p.Val1765Ala) c.1595T>C (p.Val532Ala) c.5681T>C (p.Val1894Ala) c.5045T>C (p.Val1682Ala) c.1835T>C (p.Val612Ala) | |
| 5 | g.177283878T>G | CA362316564 | NSD1 | c.5228T>G (p.Val1743Gly) c.743T>G (p.Val248Gly) n.5684T>G c.5792T>G (p.Val1931Gly) n.5498T>G n.6248T>G n.4650T>G c.6101T>G (p.Val2034Gly) c.5294T>G (p.Val1765Gly) c.1595T>G (p.Val532Gly) c.5681T>G (p.Val1894Gly) c.5045T>G (p.Val1682Gly) c.1835T>G (p.Val612Gly) | |
| 5 | g.177283879G>A | CA447738594 | NSD1 | c.5229G>A (p.Val1743=) c.744G>A (p.Val248=) n.5685G>A c.5793G>A (p.Val1931=) n.5499G>A n.6249G>A n.4651G>A c.6102G>A (p.Val2034=) c.5295G>A (p.Val1765=) c.1596G>A (p.Val532=) c.5682G>A (p.Val1894=) c.5046G>A (p.Val1682=) c.1836G>A (p.Val612=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177283879G>C | CA447738596 | NSD1 | c.5229G>C (p.Val1743=) c.744G>C (p.Val248=) n.5685G>C c.5793G>C (p.Val1931=) n.5499G>C n.6249G>C n.4651G>C c.6102G>C (p.Val2034=) c.5295G>C (p.Val1765=) c.1596G>C (p.Val532=) c.5682G>C (p.Val1894=) c.5046G>C (p.Val1682=) c.1836G>C (p.Val612=) | |
| 5 | g.177283879G= | CA1603553624 | NSD1 | c.5229G= (p.Val1743=) c.744G= (p.Val248=) n.5685G= c.5793G= (p.Val1931=) n.5499G= n.6249G= n.4651G= c.6102G= (p.Val2034=) c.5295G= (p.Val1765=) c.1596G= (p.Val532=) c.5682G= (p.Val1894=) c.5046G= (p.Val1682=) c.1836G= (p.Val612=) | |
| 5 | g.177283879G>T | CA447738598 | NSD1 | c.5229G>T (p.Val1743=) c.744G>T (p.Val248=) n.5685G>T c.5793G>T (p.Val1931=) n.5499G>T n.6249G>T n.4651G>T c.6102G>T (p.Val2034=) c.5295G>T (p.Val1765=) c.1596G>T (p.Val532=) c.5682G>T (p.Val1894=) c.5046G>T (p.Val1682=) c.1836G>T (p.Val612=) | gnomAD v4 |
| 5 | g.177283880A>C | CA362316569 | NSD1 | c.5230A>C (p.Asn1744His) c.745A>C (p.Asn249His) n.5686A>C c.5794A>C (p.Asn1932His) n.5500A>C n.6250A>C n.4652A>C c.6103A>C (p.Asn2035His) c.5296A>C (p.Asn1766His) c.1597A>C (p.Asn533His) c.5683A>C (p.Asn1895His) c.5047A>C (p.Asn1683His) c.1837A>C (p.Asn613His) | |
| 5 | g.177283880A>G | CA362316571 | NSD1 | c.5230A>G (p.Asn1744Asp) c.745A>G (p.Asn249Asp) n.5686A>G c.5794A>G (p.Asn1932Asp) n.5500A>G n.6250A>G n.4652A>G c.6103A>G (p.Asn2035Asp) c.5296A>G (p.Asn1766Asp) c.1597A>G (p.Asn533Asp) c.5683A>G (p.Asn1895Asp) c.5047A>G (p.Asn1683Asp) c.1837A>G (p.Asn613Asp) | |
| 5 | g.177283880A>T | CA362316573 | NSD1 | c.5230A>T (p.Asn1744Tyr) c.745A>T (p.Asn249Tyr) n.5686A>T c.5794A>T (p.Asn1932Tyr) n.5500A>T n.6250A>T n.4652A>T c.6103A>T (p.Asn2035Tyr) c.5296A>T (p.Asn1766Tyr) c.1597A>T (p.Asn533Tyr) c.5683A>T (p.Asn1895Tyr) c.5047A>T (p.Asn1683Tyr) c.1837A>T (p.Asn613Tyr) | |
| 5 | g.177283881A>C | CA362316575 | NSD1 | c.5231A>C (p.Asn1744Thr) c.746A>C (p.Asn249Thr) n.5687A>C c.5795A>C (p.Asn1932Thr) n.5501A>C n.6251A>C n.4653A>C c.6104A>C (p.Asn2035Thr) c.5297A>C (p.Asn1766Thr) c.1598A>C (p.Asn533Thr) c.5684A>C (p.Asn1895Thr) c.5048A>C (p.Asn1683Thr) c.1838A>C (p.Asn613Thr) | |
| 5 | g.177283881A>G | CA362316577 | NSD1 | c.5231A>G (p.Asn1744Ser) c.746A>G (p.Asn249Ser) n.5687A>G c.5795A>G (p.Asn1932Ser) n.5501A>G n.6251A>G n.4653A>G c.6104A>G (p.Asn2035Ser) c.5297A>G (p.Asn1766Ser) c.1598A>G (p.Asn533Ser) c.5684A>G (p.Asn1895Ser) c.5048A>G (p.Asn1683Ser) c.1838A>G (p.Asn613Ser) | |
| 5 | g.177283881A>T | CA362316579 | NSD1 | c.5231A>T (p.Asn1744Ile) c.746A>T (p.Asn249Ile) n.5687A>T c.5795A>T (p.Asn1932Ile) n.5501A>T n.6251A>T n.4653A>T c.6104A>T (p.Asn2035Ile) c.5297A>T (p.Asn1766Ile) c.1598A>T (p.Asn533Ile) c.5684A>T (p.Asn1895Ile) c.5048A>T (p.Asn1683Ile) c.1838A>T (p.Asn613Ile) | |
| 5 | g.177283882T>A | CA362316582 | NSD1 | c.5232T>A (p.Asn1744Lys) c.747T>A (p.Asn249Lys) n.5688T>A c.5796T>A (p.Asn1932Lys) n.5502T>A n.6252T>A n.4654T>A c.6105T>A (p.Asn2035Lys) c.5298T>A (p.Asn1766Lys) c.1599T>A (p.Asn533Lys) c.5685T>A (p.Asn1895Lys) c.5049T>A (p.Asn1683Lys) c.1839T>A (p.Asn613Lys) | |
| 5 | g.177283882T>C | CA447738609 | NSD1 | c.5232T>C (p.Asn1744=) c.747T>C (p.Asn249=) n.5688T>C c.5796T>C (p.Asn1932=) n.5502T>C n.6252T>C n.4654T>C c.6105T>C (p.Asn2035=) c.5298T>C (p.Asn1766=) c.1599T>C (p.Asn533=) c.5685T>C (p.Asn1895=) c.5049T>C (p.Asn1683=) c.1839T>C (p.Asn613=) | dbSNP |
| 5 | g.177283882T>G | CA362316585 | NSD1 | c.5232T>G (p.Asn1744Lys) c.747T>G (p.Asn249Lys) n.5688T>G c.5796T>G (p.Asn1932Lys) n.5502T>G n.6252T>G n.4654T>G c.6105T>G (p.Asn2035Lys) c.5298T>G (p.Asn1766Lys) c.1599T>G (p.Asn533Lys) c.5685T>G (p.Asn1895Lys) c.5049T>G (p.Asn1683Lys) c.1839T>G (p.Asn613Lys) | |
| 5 | g.177283882T= | CA1603553631 | NSD1 | c.5232T= (p.Asn1744=) c.747T= (p.Asn249=) n.5688T= c.5796T= (p.Asn1932=) n.5502T= n.6252T= n.4654T= c.6105T= (p.Asn2035=) c.5298T= (p.Asn1766=) c.1599T= (p.Asn533=) c.5685T= (p.Asn1895=) c.5049T= (p.Asn1683=) c.1839T= (p.Asn613=) | |
| 5 | g.177283882_177283883dup | CA2695205728 | NSD1 | c.5232_5233dup (p.Gly1745ValfsTer6) c.747_748dup (p.Gly250ValfsTer6) n.5688_5689dup c.5796_5797dup (p.Gly1933ValfsTer6) n.5502_5503dup n.6252_6253dup n.4654_4655dup c.6105_6106dup (p.Gly2036ValfsTer6) c.5298_5299dup (p.Gly1767ValfsTer6) c.1599_1600dup (p.Gly534ValfsTer6) c.5685_5686dup (p.Gly1896ValfsTer6) c.5049_5050dup (p.Gly1684ValfsTer6) c.1839_1840dup (p.Gly614ValfsTer6) | |
| 5 | g.177283883G>A | CA362316587 | NSD1 | c.5233G>A (p.Gly1745Arg) c.748G>A (p.Gly250Arg) n.5689G>A c.5797G>A (p.Gly1933Arg) n.5503G>A n.6253G>A n.4655G>A c.6106G>A (p.Gly2036Arg) c.5299G>A (p.Gly1767Arg) c.1600G>A (p.Gly534Arg) c.5686G>A (p.Gly1896Arg) c.5050G>A (p.Gly1684Arg) c.1840G>A (p.Gly614Arg) | |
| 5 | g.177283883G>C | CA362316590 | NSD1 | c.5233G>C (p.Gly1745Arg) c.748G>C (p.Gly250Arg) n.5689G>C c.5797G>C (p.Gly1933Arg) n.5503G>C n.6253G>C n.4655G>C c.6106G>C (p.Gly2036Arg) c.5299G>C (p.Gly1767Arg) c.1600G>C (p.Gly534Arg) c.5686G>C (p.Gly1896Arg) c.5050G>C (p.Gly1684Arg) c.1840G>C (p.Gly614Arg) | |
| 5 | g.177283883G>T | CA362316591 | NSD1 | c.5233G>T (p.Gly1745Ter) c.748G>T (p.Gly250Ter) n.5689G>T c.5797G>T (p.Gly1933Ter) n.5503G>T n.6253G>T n.4655G>T c.6106G>T (p.Gly2036Ter) c.5299G>T (p.Gly1767Ter) c.1600G>T (p.Gly534Ter) c.5686G>T (p.Gly1896Ter) c.5050G>T (p.Gly1684Ter) c.1840G>T (p.Gly614Ter) | |
| 5 | g.177283884_177283886dup | CA658822921 | NSD1 | c.5234_5236dup (p.Gly1745_Asp1746insGly) c.749_751dup (p.Gly250_Asp251insGly) n.5690_5692dup c.5798_5800dup (p.Gly1933_Asp1934insGly) n.5504_5506dup n.6254_6256dup n.4656_4658dup c.6107_6109dup (p.Gly2036_Asp2037insGly) c.5300_5302dup (p.Gly1767_Asp1768insGly) c.1601_1603dup (p.Gly534_Asp535insGly) c.5687_5689dup (p.Gly1896_Asp1897insGly) c.5051_5053dup (p.Gly1684_Asp1685insGly) c.1841_1843dup (p.Gly614_Asp615insGly) | ClinVar dbSNP |
| 5 | g.177283884G>A | CA362316599 | NSD1 | c.5234G>A (p.Gly1745Glu) c.749G>A (p.Gly250Glu) n.5690G>A c.5798G>A (p.Gly1933Glu) n.5504G>A n.6254G>A n.4656G>A c.6107G>A (p.Gly2036Glu) c.5300G>A (p.Gly1767Glu) c.1601G>A (p.Gly534Glu) c.5687G>A (p.Gly1896Glu) c.5051G>A (p.Gly1684Glu) c.1841G>A (p.Gly614Glu) | COSMIC COSMIC |
| 5 | g.177283884G>C | CA362316597 | NSD1 | c.5234G>C (p.Gly1745Ala) c.749G>C (p.Gly250Ala) n.5690G>C c.5798G>C (p.Gly1933Ala) n.5504G>C n.6254G>C n.4656G>C c.6107G>C (p.Gly2036Ala) c.5300G>C (p.Gly1767Ala) c.1601G>C (p.Gly534Ala) c.5687G>C (p.Gly1896Ala) c.5051G>C (p.Gly1684Ala) c.1841G>C (p.Gly614Ala) | |
| 5 | g.177283884G>T | CA362316594 | NSD1 | c.5234G>T (p.Gly1745Val) c.749G>T (p.Gly250Val) n.5690G>T c.5798G>T (p.Gly1933Val) n.5504G>T n.6254G>T n.4656G>T c.6107G>T (p.Gly2036Val) c.5300G>T (p.Gly1767Val) c.1601G>T (p.Gly534Val) c.5687G>T (p.Gly1896Val) c.5051G>T (p.Gly1684Val) c.1841G>T (p.Gly614Val) | |
| 5 | g.177283885A>C | CA447738622 | NSD1 | c.5235A>C (p.Gly1745=) c.750A>C (p.Gly250=) n.5691A>C c.5799A>C (p.Gly1933=) n.5505A>C n.6255A>C n.4657A>C c.6108A>C (p.Gly2036=) c.5301A>C (p.Gly1767=) c.1602A>C (p.Gly534=) c.5688A>C (p.Gly1896=) c.5052A>C (p.Gly1684=) c.1842A>C (p.Gly614=) | |
| 5 | g.177283885A>G | CA447738619 | NSD1 | c.5235A>G (p.Gly1745=) c.750A>G (p.Gly250=) n.5691A>G c.5799A>G (p.Gly1933=) n.5505A>G n.6255A>G n.4657A>G c.6108A>G (p.Gly2036=) c.5301A>G (p.Gly1767=) c.1602A>G (p.Gly534=) c.5688A>G (p.Gly1896=) c.5052A>G (p.Gly1684=) c.1842A>G (p.Gly614=) | |
| 5 | g.177283885A>T | CA447738620 | NSD1 | c.5235A>T (p.Gly1745=) c.750A>T (p.Gly250=) n.5691A>T c.5799A>T (p.Gly1933=) n.5505A>T n.6255A>T n.4657A>T c.6108A>T (p.Gly2036=) c.5301A>T (p.Gly1767=) c.1602A>T (p.Gly534=) c.5688A>T (p.Gly1896=) c.5052A>T (p.Gly1684=) c.1842A>T (p.Gly614=) | |
| 5 | g.177283886G>A | CA362316602 | NSD1 | c.5236G>A (p.Asp1746Asn) c.751G>A (p.Asp251Asn) n.5692G>A c.5800G>A (p.Asp1934Asn) n.5506G>A n.6256G>A n.4658G>A c.6109G>A (p.Asp2037Asn) c.5302G>A (p.Asp1768Asn) c.1603G>A (p.Asp535Asn) c.5689G>A (p.Asp1897Asn) c.5053G>A (p.Asp1685Asn) c.1843G>A (p.Asp615Asn) | dbSNP |
| 5 | g.177283886G>C | CA362316604 | NSD1 | c.5236G>C (p.Asp1746His) c.751G>C (p.Asp251His) n.5692G>C c.5800G>C (p.Asp1934His) n.5506G>C n.6256G>C n.4658G>C c.6109G>C (p.Asp2037His) c.5302G>C (p.Asp1768His) c.1603G>C (p.Asp535His) c.5689G>C (p.Asp1897His) c.5053G>C (p.Asp1685His) c.1843G>C (p.Asp615His) | |
| 5 | g.177283886G>T | CA362316606 | NSD1 | c.5236G>T (p.Asp1746Tyr) c.751G>T (p.Asp251Tyr) n.5692G>T c.5800G>T (p.Asp1934Tyr) n.5506G>T n.6256G>T n.4658G>T c.6109G>T (p.Asp2037Tyr) c.5302G>T (p.Asp1768Tyr) c.1603G>T (p.Asp535Tyr) c.5689G>T (p.Asp1897Tyr) c.5053G>T (p.Asp1685Tyr) c.1843G>T (p.Asp615Tyr) | |
| 5 | g.177283887A= | CA1603553640 | NSD1 | c.5237A= (p.Asp1746=) c.752A= (p.Asp251=) n.5693A= c.5801A= (p.Asp1934=) n.5507A= n.6257A= n.4659A= c.6110A= (p.Asp2037=) c.5303A= (p.Asp1768=) c.1604A= (p.Asp535=) c.5690A= (p.Asp1897=) c.5054A= (p.Asp1685=) c.1844A= (p.Asp615=) | |
| 5 | g.177283887A>C | CA362316609 | NSD1 | c.5237A>C (p.Asp1746Ala) c.752A>C (p.Asp251Ala) n.5693A>C c.5801A>C (p.Asp1934Ala) n.5507A>C n.6257A>C n.4659A>C c.6110A>C (p.Asp2037Ala) c.5303A>C (p.Asp1768Ala) c.1604A>C (p.Asp535Ala) c.5690A>C (p.Asp1897Ala) c.5054A>C (p.Asp1685Ala) c.1844A>C (p.Asp615Ala) |