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.177293851_177293862delinsGCATCAGTGTGA | CA1603535323 | NSD1 | c.5610_5621delinsGCATCAGTGTGA (p.Trp1870=) c.1125_1136delinsGCATCAGTGTGA (p.Trp375=) n.6066_6077delinsGCATCAGTGTGA n.899_910delinsGCATCAGTGTGA c.6174_6185delinsGCATCAGTGTGA (p.Trp2058=) n.5880_5891delinsGCATCAGTGTGA c.6483_6494delinsGCATCAGTGTGA (p.Trp2161=) c.5676_5687delinsGCATCAGTGTGA (p.Trp1892=) c.1977_1988delinsGCATCAGTGTGA (p.Trp659=) c.6063_6074delinsGCATCAGTGTGA (p.Trp2021=) c.5427_5438delinsGCATCAGTGTGA (p.Trp1809=) c.2217_2228delinsGCATCAGTGTGA (p.Trp739=) | |
| 5 | g.177293856_177293866del | CA1139659263 | NSD1 | c.5615_5625del (p.Gln1872LeufsTer10) c.1130_1140del (p.Gln377LeufsTer10) n.6071_6081del n.904_914del c.6179_6189del (p.Gln2060LeufsTer10) n.5885_5895del c.6488_6498del (p.Gln2163LeufsTer10) c.5681_5691del (p.Gln1894LeufsTer10) c.1982_1992del (p.Gln661LeufsTer10) c.6068_6078del (p.Gln2023LeufsTer10) c.5432_5442del (p.Gln1811LeufsTer10) c.2222_2232del (p.Gln741LeufsTer10) | ClinVar dbSNP |
| 5 | g.177293855C>A | CA362323382 | NSD1 | c.5614C>A (p.Gln1872Lys) c.1129C>A (p.Gln377Lys) n.6070C>A n.903C>A c.6178C>A (p.Gln2060Lys) n.5884C>A c.6487C>A (p.Gln2163Lys) c.5680C>A (p.Gln1894Lys) c.1981C>A (p.Gln661Lys) c.6067C>A (p.Gln2023Lys) c.5431C>A (p.Gln1811Lys) c.2221C>A (p.Gln741Lys) | dbSNP |
| 5 | g.177293855C= | CA1603535346 | NSD1 | c.5614C= (p.Gln1872=) c.1129C= (p.Gln377=) n.6070C= n.903C= c.6178C= (p.Gln2060=) n.5884C= c.6487C= (p.Gln2163=) c.5680C= (p.Gln1894=) c.1981C= (p.Gln661=) c.6067C= (p.Gln2023=) c.5431C= (p.Gln1811=) c.2221C= (p.Gln741=) | |
| 5 | g.177293855C>G | CA362323368 | NSD1 | c.5614C>G (p.Gln1872Glu) c.1129C>G (p.Gln377Glu) n.6070C>G n.903C>G c.6178C>G (p.Gln2060Glu) n.5884C>G c.6487C>G (p.Gln2163Glu) c.5680C>G (p.Gln1894Glu) c.1981C>G (p.Gln661Glu) c.6067C>G (p.Gln2023Glu) c.5431C>G (p.Gln1811Glu) c.2221C>G (p.Gln741Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177293855C>T | CA16611920 | NSD1 | c.5614C>T (p.Gln1872Ter) c.1129C>T (p.Gln377Ter) n.6070C>T n.903C>T c.6178C>T (p.Gln2060Ter) n.5884C>T c.6487C>T (p.Gln2163Ter) c.5680C>T (p.Gln1894Ter) c.1981C>T (p.Gln661Ter) c.6067C>T (p.Gln2023Ter) c.5431C>T (p.Gln1811Ter) c.2221C>T (p.Gln741Ter) | ClinVar dbSNP |
| 5 | g.177293856del | CA2573052479 | NSD1 | c.5615del (p.Gln1872ArgfsTer?) c.1130del (p.Gln377ArgfsTer?) n.6071del n.904del c.6179del (p.Gln2060ArgfsTer?) n.5885del c.6488del (p.Gln2163ArgfsTer?) c.5681del (p.Gln1894ArgfsTer?) c.1982del (p.Gln661ArgfsTer?) c.6068del (p.Gln2023ArgfsTer?) c.5432del (p.Gln1811ArgfsTer?) c.2222del (p.Gln741ArgfsTer?) | ClinVar dbSNP |
| 5 | g.177293856A>C | CA362323385 | NSD1 | c.5615A>C (p.Gln1872Pro) c.1130A>C (p.Gln377Pro) n.6071A>C n.904A>C c.6179A>C (p.Gln2060Pro) n.5885A>C c.6488A>C (p.Gln2163Pro) c.5681A>C (p.Gln1894Pro) c.1982A>C (p.Gln661Pro) c.6068A>C (p.Gln2023Pro) c.5432A>C (p.Gln1811Pro) c.2222A>C (p.Gln741Pro) | |
| 5 | g.177293856A>G | CA362323393 | NSD1 | c.5615A>G (p.Gln1872Arg) c.1130A>G (p.Gln377Arg) n.6071A>G n.904A>G c.6179A>G (p.Gln2060Arg) n.5885A>G c.6488A>G (p.Gln2163Arg) c.5681A>G (p.Gln1894Arg) c.1982A>G (p.Gln661Arg) c.6068A>G (p.Gln2023Arg) c.5432A>G (p.Gln1811Arg) c.2222A>G (p.Gln741Arg) | dbSNP |
| 5 | g.177293856A>T | CA362323388 | NSD1 | c.5615A>T (p.Gln1872Leu) c.1130A>T (p.Gln377Leu) n.6071A>T n.904A>T c.6179A>T (p.Gln2060Leu) n.5885A>T c.6488A>T (p.Gln2163Leu) c.5681A>T (p.Gln1894Leu) c.1982A>T (p.Gln661Leu) c.6068A>T (p.Gln2023Leu) c.5432A>T (p.Gln1811Leu) c.2222A>T (p.Gln741Leu) | |
| 5 | g.177293857G>A | CA447961248 | NSD1 | c.5616G>A (p.Gln1872=) c.1131G>A (p.Gln377=) n.6072G>A n.905G>A c.6180G>A (p.Gln2060=) n.5886G>A c.6489G>A (p.Gln2163=) c.5682G>A (p.Gln1894=) c.1983G>A (p.Gln661=) c.6069G>A (p.Gln2023=) c.5433G>A (p.Gln1811=) c.2223G>A (p.Gln741=) | |
| 5 | g.177293857G>C | CA362323395 | NSD1 | c.5616G>C (p.Gln1872His) c.1131G>C (p.Gln377His) n.6072G>C n.905G>C c.6180G>C (p.Gln2060His) n.5886G>C c.6489G>C (p.Gln2163His) c.5682G>C (p.Gln1894His) c.1983G>C (p.Gln661His) c.6069G>C (p.Gln2023His) c.5433G>C (p.Gln1811His) c.2223G>C (p.Gln741His) | |
| 5 | g.177293857G>T | CA362323400 | NSD1 | c.5616G>T (p.Gln1872His) c.1131G>T (p.Gln377His) n.6072G>T n.905G>T c.6180G>T (p.Gln2060His) n.5886G>T c.6489G>T (p.Gln2163His) c.5682G>T (p.Gln1894His) c.1983G>T (p.Gln661His) c.6069G>T (p.Gln2023His) c.5433G>T (p.Gln1811His) c.2223G>T (p.Gln741His) | |
| 5 | g.177293858T>A | CA362323404 | NSD1 | c.5617T>A (p.Cys1873Ser) c.1132T>A (p.Cys378Ser) n.6073T>A n.906T>A c.6181T>A (p.Cys2061Ser) n.5887T>A c.6490T>A (p.Cys2164Ser) c.5683T>A (p.Cys1895Ser) c.1984T>A (p.Cys662Ser) c.6070T>A (p.Cys2024Ser) c.5434T>A (p.Cys1812Ser) c.2224T>A (p.Cys742Ser) | |
| 5 | g.177293858T>C | CA362323405 | NSD1 | c.5617T>C (p.Cys1873Arg) c.1132T>C (p.Cys378Arg) n.6073T>C n.906T>C c.6181T>C (p.Cys2061Arg) n.5887T>C c.6490T>C (p.Cys2164Arg) c.5683T>C (p.Cys1895Arg) c.1984T>C (p.Cys662Arg) c.6070T>C (p.Cys2024Arg) c.5434T>C (p.Cys1812Arg) c.2224T>C (p.Cys742Arg) | ClinVar dbSNP |
| 5 | g.177293858T>G | CA362323406 | NSD1 | c.5617T>G (p.Cys1873Gly) c.1132T>G (p.Cys378Gly) n.6073T>G n.906T>G c.6181T>G (p.Cys2061Gly) n.5887T>G c.6490T>G (p.Cys2164Gly) c.5683T>G (p.Cys1895Gly) c.1984T>G (p.Cys662Gly) c.6070T>G (p.Cys2024Gly) c.5434T>G (p.Cys1812Gly) c.2224T>G (p.Cys742Gly) | |
| 5 | g.177293858T= | CA1603535351 | NSD1 | c.5617T= (p.Cys1873=) c.1132T= (p.Cys378=) n.6073T= n.906T= c.6181T= (p.Cys2061=) n.5887T= c.6490T= (p.Cys2164=) c.5683T= (p.Cys1895=) c.1984T= (p.Cys662=) c.6070T= (p.Cys2024=) c.5434T= (p.Cys1812=) c.2224T= (p.Cys742=) | |
| 5 | g.177293859G>A | CA362323410 | NSD1 | c.5618G>A (p.Cys1873Tyr) c.1133G>A (p.Cys378Tyr) n.6074G>A n.907G>A c.6182G>A (p.Cys2061Tyr) n.5888G>A c.6491G>A (p.Cys2164Tyr) c.5684G>A (p.Cys1895Tyr) c.1985G>A (p.Cys662Tyr) c.6071G>A (p.Cys2024Tyr) c.5435G>A (p.Cys1812Tyr) c.2225G>A (p.Cys742Tyr) | |
| 5 | g.177293859G>C | CA362323412 | NSD1 | c.5618G>C (p.Cys1873Ser) c.1133G>C (p.Cys378Ser) n.6074G>C n.907G>C c.6182G>C (p.Cys2061Ser) n.5888G>C c.6491G>C (p.Cys2164Ser) c.5684G>C (p.Cys1895Ser) c.1985G>C (p.Cys662Ser) c.6071G>C (p.Cys2024Ser) c.5435G>C (p.Cys1812Ser) c.2225G>C (p.Cys742Ser) | |
| 5 | g.177293859G= | CA1603535354 | NSD1 | c.5618G= (p.Cys1873=) c.1133G= (p.Cys378=) n.6074G= n.907G= c.6182G= (p.Cys2061=) n.5888G= c.6491G= (p.Cys2164=) c.5684G= (p.Cys1895=) c.1985G= (p.Cys662=) c.6071G= (p.Cys2024=) c.5435G= (p.Cys1812=) c.2225G= (p.Cys742=) | |
| 5 | g.177293859G>T | CA362323416 | NSD1 | c.5618G>T (p.Cys1873Phe) c.1133G>T (p.Cys378Phe) n.6074G>T n.907G>T c.6182G>T (p.Cys2061Phe) n.5888G>T c.6491G>T (p.Cys2164Phe) c.5684G>T (p.Cys1895Phe) c.1985G>T (p.Cys662Phe) c.6071G>T (p.Cys2024Phe) c.5435G>T (p.Cys1812Phe) c.2225G>T (p.Cys742Phe) | |
| 5 | g.177293860T>A | CA362323418 | NSD1 | c.5619T>A (p.Cys1873Ter) c.1134T>A (p.Cys378Ter) n.6075T>A n.908T>A c.6183T>A (p.Cys2061Ter) n.5889T>A c.6492T>A (p.Cys2164Ter) c.5685T>A (p.Cys1895Ter) c.1986T>A (p.Cys662Ter) c.6072T>A (p.Cys2024Ter) c.5436T>A (p.Cys1812Ter) c.2226T>A (p.Cys742Ter) | |
| 5 | g.177293860T>C | CA447961250 | NSD1 | c.5619T>C (p.Cys1873=) c.1134T>C (p.Cys378=) n.6075T>C n.908T>C c.6183T>C (p.Cys2061=) n.5889T>C c.6492T>C (p.Cys2164=) c.5685T>C (p.Cys1895=) c.1986T>C (p.Cys662=) c.6072T>C (p.Cys2024=) c.5436T>C (p.Cys1812=) c.2226T>C (p.Cys742=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177293860T>G | CA362323420 | NSD1 | c.5619T>G (p.Cys1873Trp) c.1134T>G (p.Cys378Trp) n.6075T>G n.908T>G c.6183T>G (p.Cys2061Trp) n.5889T>G c.6492T>G (p.Cys2164Trp) c.5685T>G (p.Cys1895Trp) c.1986T>G (p.Cys662Trp) c.6072T>G (p.Cys2024Trp) c.5436T>G (p.Cys1812Trp) c.2226T>G (p.Cys742Trp) | |
| 5 | g.177293860T= | CA1603535359 | NSD1 | c.5619T= (p.Cys1873=) c.1134T= (p.Cys378=) n.6075T= n.908T= c.6183T= (p.Cys2061=) n.5889T= c.6492T= (p.Cys2164=) c.5685T= (p.Cys1895=) c.1986T= (p.Cys662=) c.6072T= (p.Cys2024=) c.5436T= (p.Cys1812=) c.2226T= (p.Cys742=) | |
| 5 | g.177293860dup | CA658655921 | NSD1 | c.5619dup (p.Asp1874Ter) c.1134dup (p.Asp379Ter) n.6075dup n.908dup c.6183dup (p.Asp2062Ter) n.5889dup c.6492dup (p.Asp2165Ter) c.5685dup (p.Asp1896Ter) c.1986dup (p.Asp663Ter) c.6072dup (p.Asp2025Ter) c.5436dup (p.Asp1813Ter) c.2226dup (p.Asp743Ter) | ClinVar dbSNP |
| 5 | g.177293861G>A | CA362323424 | NSD1 | c.5620G>A (p.Asp1874Asn) c.1135G>A (p.Asp379Asn) n.6076G>A n.909G>A c.6184G>A (p.Asp2062Asn) n.5890G>A c.6493G>A (p.Asp2165Asn) c.5686G>A (p.Asp1896Asn) c.1987G>A (p.Asp663Asn) c.6073G>A (p.Asp2025Asn) c.5437G>A (p.Asp1813Asn) c.2227G>A (p.Asp743Asn) | |
| 5 | g.177293861G>C | CA362323438 | NSD1 | c.5620G>C (p.Asp1874His) c.1135G>C (p.Asp379His) n.6076G>C n.909G>C c.6184G>C (p.Asp2062His) n.5890G>C c.6493G>C (p.Asp2165His) c.5686G>C (p.Asp1896His) c.1987G>C (p.Asp663His) c.6073G>C (p.Asp2025His) c.5437G>C (p.Asp1813His) c.2227G>C (p.Asp743His) | |
| 5 | g.177293861G>T | CA362323435 | NSD1 | c.5620G>T (p.Asp1874Tyr) c.1135G>T (p.Asp379Tyr) n.6076G>T n.909G>T c.6184G>T (p.Asp2062Tyr) n.5890G>T c.6493G>T (p.Asp2165Tyr) c.5686G>T (p.Asp1896Tyr) c.1987G>T (p.Asp663Tyr) c.6073G>T (p.Asp2025Tyr) c.5437G>T (p.Asp1813Tyr) c.2227G>T (p.Asp743Tyr) | |
| 5 | g.177293862A>C | CA362323445 | NSD1 | c.5621A>C (p.Asp1874Ala) c.1136A>C (p.Asp379Ala) n.6077A>C n.910A>C c.6185A>C (p.Asp2062Ala) n.5891A>C c.6494A>C (p.Asp2165Ala) c.5687A>C (p.Asp1896Ala) c.1988A>C (p.Asp663Ala) c.6074A>C (p.Asp2025Ala) c.5438A>C (p.Asp1813Ala) c.2228A>C (p.Asp743Ala) | |
| 5 | g.177293862A>G | CA362323447 | NSD1 | c.5621A>G (p.Asp1874Gly) c.1136A>G (p.Asp379Gly) n.6077A>G n.910A>G c.6185A>G (p.Asp2062Gly) n.5891A>G c.6494A>G (p.Asp2165Gly) c.5687A>G (p.Asp1896Gly) c.1988A>G (p.Asp663Gly) c.6074A>G (p.Asp2025Gly) c.5438A>G (p.Asp1813Gly) c.2228A>G (p.Asp743Gly) | |
| 5 | g.177293862A>T | CA362323450 | NSD1 | c.5621A>T (p.Asp1874Val) c.1136A>T (p.Asp379Val) n.6077A>T n.910A>T c.6185A>T (p.Asp2062Val) n.5891A>T c.6494A>T (p.Asp2165Val) c.5687A>T (p.Asp1896Val) c.1988A>T (p.Asp663Val) c.6074A>T (p.Asp2025Val) c.5438A>T (p.Asp1813Val) c.2228A>T (p.Asp743Val) | |
| 5 | g.177293863C>A | CA362323455 | NSD1 | c.5622C>A (p.Asp1874Glu) c.1137C>A (p.Asp379Glu) n.6078C>A n.911C>A c.6186C>A (p.Asp2062Glu) n.5892C>A c.6495C>A (p.Asp2165Glu) c.5688C>A (p.Asp1896Glu) c.1989C>A (p.Asp663Glu) c.6075C>A (p.Asp2025Glu) c.5439C>A (p.Asp1813Glu) c.2229C>A (p.Asp743Glu) | |
| 5 | g.177293863C>G | CA362323457 | NSD1 | c.5622C>G (p.Asp1874Glu) c.1137C>G (p.Asp379Glu) n.6078C>G n.911C>G c.6186C>G (p.Asp2062Glu) n.5892C>G c.6495C>G (p.Asp2165Glu) c.5688C>G (p.Asp1896Glu) c.1989C>G (p.Asp663Glu) c.6075C>G (p.Asp2025Glu) c.5439C>G (p.Asp1813Glu) c.2229C>G (p.Asp743Glu) | |
| 5 | g.177293863C>T | CA447961252 | NSD1 | c.5622C>T (p.Asp1874=) c.1137C>T (p.Asp379=) n.6078C>T n.911C>T c.6186C>T (p.Asp2062=) n.5892C>T c.6495C>T (p.Asp2165=) c.5688C>T (p.Asp1896=) c.1989C>T (p.Asp663=) c.6075C>T (p.Asp2025=) c.5439C>T (p.Asp1813=) c.2229C>T (p.Asp743=) | |
| 5 | g.177293864A>C | CA362323461 | NSD1 | c.5623A>C (p.Ile1875Leu) c.1138A>C (p.Ile380Leu) n.6079A>C n.912A>C c.6187A>C (p.Ile2063Leu) n.5893A>C c.6496A>C (p.Ile2166Leu) c.5689A>C (p.Ile1897Leu) c.1990A>C (p.Ile664Leu) c.6076A>C (p.Ile2026Leu) c.5440A>C (p.Ile1814Leu) c.2230A>C (p.Ile744Leu) | |
| 5 | g.177293864A>G | CA362323464 | NSD1 | c.5623A>G (p.Ile1875Val) c.1138A>G (p.Ile380Val) n.6079A>G n.912A>G c.6187A>G (p.Ile2063Val) n.5893A>G c.6496A>G (p.Ile2166Val) c.5689A>G (p.Ile1897Val) c.1990A>G (p.Ile664Val) c.6076A>G (p.Ile2026Val) c.5440A>G (p.Ile1814Val) c.2230A>G (p.Ile744Val) | |
| 5 | g.177293864A>T | CA362323462 | NSD1 | c.5623A>T (p.Ile1875Phe) c.1138A>T (p.Ile380Phe) n.6079A>T n.912A>T c.6187A>T (p.Ile2063Phe) n.5893A>T c.6496A>T (p.Ile2166Phe) c.5689A>T (p.Ile1897Phe) c.1990A>T (p.Ile664Phe) c.6076A>T (p.Ile2026Phe) c.5440A>T (p.Ile1814Phe) c.2230A>T (p.Ile744Phe) | |
| 5 | g.177293865T>A | CA362323467 | NSD1 | c.5624T>A (p.Ile1875Asn) c.1139T>A (p.Ile380Asn) n.6080T>A n.913T>A c.6188T>A (p.Ile2063Asn) n.5894T>A c.6497T>A (p.Ile2166Asn) c.5690T>A (p.Ile1897Asn) c.1991T>A (p.Ile664Asn) c.6077T>A (p.Ile2026Asn) c.5441T>A (p.Ile1814Asn) c.2231T>A (p.Ile744Asn) | |
| 5 | g.177293865T>C | CA362323469 | NSD1 | c.5624T>C (p.Ile1875Thr) c.1139T>C (p.Ile380Thr) n.6080T>C n.913T>C c.6188T>C (p.Ile2063Thr) n.5894T>C c.6497T>C (p.Ile2166Thr) c.5690T>C (p.Ile1897Thr) c.1991T>C (p.Ile664Thr) c.6077T>C (p.Ile2026Thr) c.5441T>C (p.Ile1814Thr) c.2231T>C (p.Ile744Thr) | gnomAD v4 |
| 5 | g.177293865T>G | CA362323471 | NSD1 | c.5624T>G (p.Ile1875Ser) c.1139T>G (p.Ile380Ser) n.6080T>G n.913T>G c.6188T>G (p.Ile2063Ser) n.5894T>G c.6497T>G (p.Ile2166Ser) c.5690T>G (p.Ile1897Ser) c.1991T>G (p.Ile664Ser) c.6077T>G (p.Ile2026Ser) c.5441T>G (p.Ile1814Ser) c.2231T>G (p.Ile744Ser) | |
| 5 | g.177293866C>A | CA447961254 | NSD1 | c.5625C>A (p.Ile1875=) c.1140C>A (p.Ile380=) n.6081C>A n.914C>A c.6189C>A (p.Ile2063=) n.5895C>A c.6498C>A (p.Ile2166=) c.5691C>A (p.Ile1897=) c.1992C>A (p.Ile664=) c.6078C>A (p.Ile2026=) c.5442C>A (p.Ile1814=) c.2232C>A (p.Ile744=) | |
| 5 | g.177293866C>G | CA362323476 | NSD1 | c.5625C>G (p.Ile1875Met) c.1140C>G (p.Ile380Met) n.6081C>G n.914C>G c.6189C>G (p.Ile2063Met) n.5895C>G c.6498C>G (p.Ile2166Met) c.5691C>G (p.Ile1897Met) c.1992C>G (p.Ile664Met) c.6078C>G (p.Ile2026Met) c.5442C>G (p.Ile1814Met) c.2232C>G (p.Ile744Met) | dbSNP |
| 5 | g.177293866C>T | CA447961257 | NSD1 | c.5625C>T (p.Ile1875=) c.1140C>T (p.Ile380=) n.6081C>T n.914C>T c.6189C>T (p.Ile2063=) n.5895C>T c.6498C>T (p.Ile2166=) c.5691C>T (p.Ile1897=) c.1992C>T (p.Ile664=) c.6078C>T (p.Ile2026=) c.5442C>T (p.Ile1814=) c.2232C>T (p.Ile744=) | |
| 5 | g.177293867T>A | CA362323479 | NSD1 | c.5626T>A (p.Cys1876Ser) c.1141T>A (p.Cys381Ser) n.6082T>A n.915T>A c.6190T>A (p.Cys2064Ser) n.5896T>A c.6499T>A (p.Cys2167Ser) c.5692T>A (p.Cys1898Ser) c.1993T>A (p.Cys665Ser) c.6079T>A (p.Cys2027Ser) c.5443T>A (p.Cys1815Ser) c.2233T>A (p.Cys745Ser) | |
| 5 | g.177293867T>C | CA362323481 | NSD1 | c.5626T>C (p.Cys1876Arg) c.1141T>C (p.Cys381Arg) n.6082T>C n.915T>C c.6190T>C (p.Cys2064Arg) n.5896T>C c.6499T>C (p.Cys2167Arg) c.5692T>C (p.Cys1898Arg) c.1993T>C (p.Cys665Arg) c.6079T>C (p.Cys2027Arg) c.5443T>C (p.Cys1815Arg) c.2233T>C (p.Cys745Arg) | |
| 5 | g.177293867T>G | CA362323484 | NSD1 | c.5626T>G (p.Cys1876Gly) c.1141T>G (p.Cys381Gly) n.6082T>G n.915T>G c.6190T>G (p.Cys2064Gly) n.5896T>G c.6499T>G (p.Cys2167Gly) c.5692T>G (p.Cys1898Gly) c.1993T>G (p.Cys665Gly) c.6079T>G (p.Cys2027Gly) c.5443T>G (p.Cys1815Gly) c.2233T>G (p.Cys745Gly) | |
| 5 | g.177293868G>A | CA295092 | NSD1 | c.5627G>A (p.Cys1876Tyr) c.1142G>A (p.Cys381Tyr) n.6083G>A n.916G>A c.6191G>A (p.Cys2064Tyr) n.5897G>A c.6500G>A (p.Cys2167Tyr) c.5693G>A (p.Cys1898Tyr) c.1994G>A (p.Cys665Tyr) c.6080G>A (p.Cys2027Tyr) c.5444G>A (p.Cys1815Tyr) c.2234G>A (p.Cys745Tyr) | ClinVar dbSNP |
| 5 | g.177293868G>C | CA362323490 | NSD1 | c.5627G>C (p.Cys1876Ser) c.1142G>C (p.Cys381Ser) n.6083G>C n.916G>C c.6191G>C (p.Cys2064Ser) n.5897G>C c.6500G>C (p.Cys2167Ser) c.5693G>C (p.Cys1898Ser) c.1994G>C (p.Cys665Ser) c.6080G>C (p.Cys2027Ser) c.5444G>C (p.Cys1815Ser) c.2234G>C (p.Cys745Ser) | |
| 5 | g.177293868G= | CA1603535371 | NSD1 | c.5627G= (p.Cys1876=) c.1142G= (p.Cys381=) n.6083G= n.916G= c.6191G= (p.Cys2064=) n.5897G= c.6500G= (p.Cys2167=) c.5693G= (p.Cys1898=) c.1994G= (p.Cys665=) c.6080G= (p.Cys2027=) c.5444G= (p.Cys1815=) c.2234G= (p.Cys745=) |