| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177282537C>A | CA362315905 | NSD1 | c.5092C>A (p.Gln1698Lys) c.607C>A (p.Gln203Lys) n.5548C>A c.5656C>A (p.Gln1886Lys) n.5362C>A n.6112C>A n.4514C>A c.5965C>A (p.Gln1989Lys) c.5158C>A (p.Gln1720Lys) c.1459C>A (p.Gln487Lys) c.5545C>A (p.Gln1849Lys) c.4909C>A (p.Gln1637Lys) c.1699C>A (p.Gln567Lys) | COSMIC COSMIC |
| 5 | g.177282537C= | CA1603552092 | NSD1 | c.5092C= (p.Gln1698=) c.607C= (p.Gln203=) n.5548C= c.5656C= (p.Gln1886=) n.5362C= n.6112C= n.4514C= c.5965C= (p.Gln1989=) c.5158C= (p.Gln1720=) c.1459C= (p.Gln487=) c.5545C= (p.Gln1849=) c.4909C= (p.Gln1637=) c.1699C= (p.Gln567=) | |
| 5 | g.177282537C>G | CA362315906 | NSD1 | c.5092C>G (p.Gln1698Glu) c.607C>G (p.Gln203Glu) n.5548C>G c.5656C>G (p.Gln1886Glu) n.5362C>G n.6112C>G n.4514C>G c.5965C>G (p.Gln1989Glu) c.5158C>G (p.Gln1720Glu) c.1459C>G (p.Gln487Glu) c.5545C>G (p.Gln1849Glu) c.4909C>G (p.Gln1637Glu) c.1699C>G (p.Gln567Glu) | dbSNP |
| 5 | g.177282537C>T | CA295012 | NSD1 | c.5092C>T (p.Gln1698Ter) c.607C>T (p.Gln203Ter) n.5548C>T c.5656C>T (p.Gln1886Ter) n.5362C>T n.6112C>T n.4514C>T c.5965C>T (p.Gln1989Ter) c.5158C>T (p.Gln1720Ter) c.1459C>T (p.Gln487Ter) c.5545C>T (p.Gln1849Ter) c.4909C>T (p.Gln1637Ter) c.1699C>T (p.Gln567Ter) | ClinVar dbSNP |
| 5 | g.177282538A>C | CA362315907 | NSD1 | c.5093A>C (p.Gln1698Pro) c.608A>C (p.Gln203Pro) n.5549A>C c.5657A>C (p.Gln1886Pro) n.5363A>C n.6113A>C n.4515A>C c.5966A>C (p.Gln1989Pro) c.5159A>C (p.Gln1720Pro) c.1460A>C (p.Gln487Pro) c.5546A>C (p.Gln1849Pro) c.4910A>C (p.Gln1637Pro) c.1700A>C (p.Gln567Pro) | |
| 5 | g.177282538A>G | CA362315908 | NSD1 | c.5093A>G (p.Gln1698Arg) c.608A>G (p.Gln203Arg) n.5549A>G c.5657A>G (p.Gln1886Arg) n.5363A>G n.6113A>G n.4515A>G c.5966A>G (p.Gln1989Arg) c.5159A>G (p.Gln1720Arg) c.1460A>G (p.Gln487Arg) c.5546A>G (p.Gln1849Arg) c.4910A>G (p.Gln1637Arg) c.1700A>G (p.Gln567Arg) | |
| 5 | g.177282538A>T | CA362315909 | NSD1 | c.5093A>T (p.Gln1698Leu) c.608A>T (p.Gln203Leu) n.5549A>T c.5657A>T (p.Gln1886Leu) n.5363A>T n.6113A>T n.4515A>T c.5966A>T (p.Gln1989Leu) c.5159A>T (p.Gln1720Leu) c.1460A>T (p.Gln487Leu) c.5546A>T (p.Gln1849Leu) c.4910A>T (p.Gln1637Leu) c.1700A>T (p.Gln567Leu) | dbSNP |
| 5 | g.177282539A= | CA1603552094 | NSD1 | c.5094A= (p.Gln1698=) c.609A= (p.Gln203=) n.5550A= c.5658A= (p.Gln1886=) n.5364A= n.6114A= n.4516A= c.5967A= (p.Gln1989=) c.5160A= (p.Gln1720=) c.1461A= (p.Gln487=) c.5547A= (p.Gln1849=) c.4911A= (p.Gln1637=) c.1701A= (p.Gln567=) | |
| 5 | g.177282539A>C | CA362315910 | NSD1 | c.5094A>C (p.Gln1698His) c.609A>C (p.Gln203His) n.5550A>C c.5658A>C (p.Gln1886His) n.5364A>C n.6114A>C n.4516A>C c.5967A>C (p.Gln1989His) c.5160A>C (p.Gln1720His) c.1461A>C (p.Gln487His) c.5547A>C (p.Gln1849His) c.4911A>C (p.Gln1637His) c.1701A>C (p.Gln567His) | |
| 5 | g.177282539A>G | CA3577921 | NSD1 | c.5094A>G (p.Gln1698=) c.609A>G (p.Gln203=) n.5550A>G c.5658A>G (p.Gln1886=) n.5364A>G n.6114A>G n.4516A>G c.5967A>G (p.Gln1989=) c.5160A>G (p.Gln1720=) c.1461A>G (p.Gln487=) c.5547A>G (p.Gln1849=) c.4911A>G (p.Gln1637=) c.1701A>G (p.Gln567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177282539A>T | CA362315911 | NSD1 | c.5094A>T (p.Gln1698His) c.609A>T (p.Gln203His) n.5550A>T c.5658A>T (p.Gln1886His) n.5364A>T n.6114A>T n.4516A>T c.5967A>T (p.Gln1989His) c.5160A>T (p.Gln1720His) c.1461A>T (p.Gln487His) c.5547A>T (p.Gln1849His) c.4911A>T (p.Gln1637His) c.1701A>T (p.Gln567His) | |
| 5 | g.177282540G>A | CA362315912 | NSD1 | c.5095G>A (p.Glu1699Lys) c.610G>A (p.Glu204Lys) n.5551G>A c.5659G>A (p.Glu1887Lys) n.5365G>A n.6115G>A n.4517G>A c.5968G>A (p.Glu1990Lys) c.5161G>A (p.Glu1721Lys) c.1462G>A (p.Glu488Lys) c.5548G>A (p.Glu1850Lys) c.4912G>A (p.Glu1638Lys) c.1702G>A (p.Glu568Lys) | dbSNP |
| 5 | g.177282540G>C | CA362315913 | NSD1 | c.5095G>C (p.Glu1699Gln) c.610G>C (p.Glu204Gln) n.5551G>C c.5659G>C (p.Glu1887Gln) n.5365G>C n.6115G>C n.4517G>C c.5968G>C (p.Glu1990Gln) c.5161G>C (p.Glu1721Gln) c.1462G>C (p.Glu488Gln) c.5548G>C (p.Glu1850Gln) c.4912G>C (p.Glu1638Gln) c.1702G>C (p.Glu568Gln) | dbSNP COSMIC COSMIC |
| 5 | g.177282540G>T | CA362315914 | NSD1 | c.5095G>T (p.Glu1699Ter) c.610G>T (p.Glu204Ter) n.5551G>T c.5659G>T (p.Glu1887Ter) n.5365G>T n.6115G>T n.4517G>T c.5968G>T (p.Glu1990Ter) c.5161G>T (p.Glu1721Ter) c.1462G>T (p.Glu488Ter) c.5548G>T (p.Glu1850Ter) c.4912G>T (p.Glu1638Ter) c.1702G>T (p.Glu568Ter) | |
| 5 | g.177282541A>C | CA362315917 | NSD1 | c.5096A>C (p.Glu1699Ala) c.611A>C (p.Glu204Ala) n.5552A>C c.5660A>C (p.Glu1887Ala) n.5366A>C n.6116A>C n.4518A>C c.5969A>C (p.Glu1990Ala) c.5162A>C (p.Glu1721Ala) c.1463A>C (p.Glu488Ala) c.5549A>C (p.Glu1850Ala) c.4913A>C (p.Glu1638Ala) c.1703A>C (p.Glu568Ala) | |
| 5 | g.177282541A>G | CA362315916 | NSD1 | c.5096A>G (p.Glu1699Gly) c.611A>G (p.Glu204Gly) n.5552A>G c.5660A>G (p.Glu1887Gly) n.5366A>G n.6116A>G n.4518A>G c.5969A>G (p.Glu1990Gly) c.5162A>G (p.Glu1721Gly) c.1463A>G (p.Glu488Gly) c.5549A>G (p.Glu1850Gly) c.4913A>G (p.Glu1638Gly) c.1703A>G (p.Glu568Gly) | dbSNP |
| 5 | g.177282541A>T | CA362315915 | NSD1 | c.5096A>T (p.Glu1699Val) c.611A>T (p.Glu204Val) n.5552A>T c.5660A>T (p.Glu1887Val) n.5366A>T n.6116A>T n.4518A>T c.5969A>T (p.Glu1990Val) c.5162A>T (p.Glu1721Val) c.1463A>T (p.Glu488Val) c.5549A>T (p.Glu1850Val) c.4913A>T (p.Glu1638Val) c.1703A>T (p.Glu568Val) | |
| 5 | g.177282542A>C | CA362315918 | NSD1 | c.5097A>C (p.Glu1699Asp) c.612A>C (p.Glu204Asp) n.5553A>C c.5661A>C (p.Glu1887Asp) n.5367A>C n.6117A>C n.4519A>C c.5970A>C (p.Glu1990Asp) c.5163A>C (p.Glu1721Asp) c.1464A>C (p.Glu488Asp) c.5550A>C (p.Glu1850Asp) c.4914A>C (p.Glu1638Asp) c.1704A>C (p.Glu568Asp) | |
| 5 | g.177282542A>G | CA447737613 | NSD1 | c.5097A>G (p.Glu1699=) c.612A>G (p.Glu204=) n.5553A>G c.5661A>G (p.Glu1887=) n.5367A>G n.6117A>G n.4519A>G c.5970A>G (p.Glu1990=) c.5163A>G (p.Glu1721=) c.1464A>G (p.Glu488=) c.5550A>G (p.Glu1850=) c.4914A>G (p.Glu1638=) c.1704A>G (p.Glu568=) | |
| 5 | g.177282542A>T | CA362315919 | NSD1 | c.5097A>T (p.Glu1699Asp) c.612A>T (p.Glu204Asp) n.5553A>T c.5661A>T (p.Glu1887Asp) n.5367A>T n.6117A>T n.4519A>T c.5970A>T (p.Glu1990Asp) c.5163A>T (p.Glu1721Asp) c.1464A>T (p.Glu488Asp) c.5550A>T (p.Glu1850Asp) c.4914A>T (p.Glu1638Asp) c.1704A>T (p.Glu568Asp) | |
| 5 | g.177282543C>A | CA362315920 | NSD1 | c.5098C>A (p.His1700Asn) c.613C>A (p.His205Asn) n.5554C>A c.5662C>A (p.His1888Asn) n.5368C>A n.6118C>A n.4520C>A c.5971C>A (p.His1991Asn) c.5164C>A (p.His1722Asn) c.1465C>A (p.His489Asn) c.5551C>A (p.His1851Asn) c.4915C>A (p.His1639Asn) c.1705C>A (p.His569Asn) | |
| 5 | g.177282543C>G | CA362315921 | NSD1 | c.5098C>G (p.His1700Asp) c.613C>G (p.His205Asp) n.5554C>G c.5662C>G (p.His1888Asp) n.5368C>G n.6118C>G n.4520C>G c.5971C>G (p.His1991Asp) c.5164C>G (p.His1722Asp) c.1465C>G (p.His489Asp) c.5551C>G (p.His1851Asp) c.4915C>G (p.His1639Asp) c.1705C>G (p.His569Asp) | dbSNP |
| 5 | g.177282543C>T | CA362315922 | NSD1 | c.5098C>T (p.His1700Tyr) c.613C>T (p.His205Tyr) n.5554C>T c.5662C>T (p.His1888Tyr) n.5368C>T n.6118C>T n.4520C>T c.5971C>T (p.His1991Tyr) c.5164C>T (p.His1722Tyr) c.1465C>T (p.His489Tyr) c.5551C>T (p.His1851Tyr) c.4915C>T (p.His1639Tyr) c.1705C>T (p.His569Tyr) | gnomAD v4 |
| 5 | g.177282544A= | CA1603552098 | NSD1 | c.5099A= (p.His1700=) c.614A= (p.His205=) n.5555A= c.5663A= (p.His1888=) n.5369A= n.6119A= n.4521A= c.5972A= (p.His1991=) c.5165A= (p.His1722=) c.1466A= (p.His489=) c.5552A= (p.His1851=) c.4916A= (p.His1639=) c.1706A= (p.His569=) | |
| 5 | g.177282544A>C | CA362315923 | NSD1 | c.5099A>C (p.His1700Pro) c.614A>C (p.His205Pro) n.5555A>C c.5663A>C (p.His1888Pro) n.5369A>C n.6119A>C n.4521A>C c.5972A>C (p.His1991Pro) c.5165A>C (p.His1722Pro) c.1466A>C (p.His489Pro) c.5552A>C (p.His1851Pro) c.4916A>C (p.His1639Pro) c.1706A>C (p.His569Pro) | |
| 5 | g.177282544A>G | CA362315924 | NSD1 | c.5099A>G (p.His1700Arg) c.614A>G (p.His205Arg) n.5555A>G c.5663A>G (p.His1888Arg) n.5369A>G n.6119A>G n.4521A>G c.5972A>G (p.His1991Arg) c.5165A>G (p.His1722Arg) c.1466A>G (p.His489Arg) c.5552A>G (p.His1851Arg) c.4916A>G (p.His1639Arg) c.1706A>G (p.His569Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177282544A>T | CA362315925 | NSD1 | c.5099A>T (p.His1700Leu) c.614A>T (p.His205Leu) n.5555A>T c.5663A>T (p.His1888Leu) n.5369A>T n.6119A>T n.4521A>T c.5972A>T (p.His1991Leu) c.5165A>T (p.His1722Leu) c.1466A>T (p.His489Leu) c.5552A>T (p.His1851Leu) c.4916A>T (p.His1639Leu) c.1706A>T (p.His569Leu) | |
| 5 | g.177282544_177282545dup | CA2582341660 | NSD1 | c.5099_5100dup (p.Asp1701MetfsTer11) c.614_615dup (p.Asp206MetfsTer11) n.5555_5556dup c.5663_5664dup (p.Asp1889MetfsTer11) n.5369_5370dup n.6119_6120dup n.4521_4522dup c.5972_5973dup (p.Asp1992MetfsTer11) c.5165_5166dup (p.Asp1723MetfsTer11) c.1466_1467dup (p.Asp490MetfsTer11) c.5552_5553dup (p.Asp1852MetfsTer11) c.4916_4917dup (p.Asp1640MetfsTer11) c.1706_1707dup (p.Asp570MetfsTer11) | ClinVar |
| 5 | g.177282545T>A | CA362315926 | NSD1 | c.5100T>A (p.His1700Gln) c.615T>A (p.His205Gln) n.5556T>A c.5664T>A (p.His1888Gln) n.5370T>A n.6120T>A n.4522T>A c.5973T>A (p.His1991Gln) c.5166T>A (p.His1722Gln) c.1467T>A (p.His489Gln) c.5553T>A (p.His1851Gln) c.4917T>A (p.His1639Gln) c.1707T>A (p.His569Gln) | dbSNP |
| 5 | g.177282545T>C | CA447737642 | NSD1 | c.5100T>C (p.His1700=) c.615T>C (p.His205=) n.5556T>C c.5664T>C (p.His1888=) n.5370T>C n.6120T>C n.4522T>C c.5973T>C (p.His1991=) c.5166T>C (p.His1722=) c.1467T>C (p.His489=) c.5553T>C (p.His1851=) c.4917T>C (p.His1639=) c.1707T>C (p.His569=) | |
| 5 | g.177282545T>G | CA362315927 | NSD1 | c.5100T>G (p.His1700Gln) c.615T>G (p.His205Gln) n.5556T>G c.5664T>G (p.His1888Gln) n.5370T>G n.6120T>G n.4522T>G c.5973T>G (p.His1991Gln) c.5166T>G (p.His1722Gln) c.1467T>G (p.His489Gln) c.5553T>G (p.His1851Gln) c.4917T>G (p.His1639Gln) c.1707T>G (p.His569Gln) | |
| 5 | g.177282546G>A | CA362315928 | NSD1 | c.5101G>A (p.Asp1701Asn) c.616G>A (p.Asp206Asn) n.5557G>A c.5665G>A (p.Asp1889Asn) n.5371G>A n.6121G>A n.4523G>A c.5974G>A (p.Asp1992Asn) c.5167G>A (p.Asp1723Asn) c.1468G>A (p.Asp490Asn) c.5554G>A (p.Asp1852Asn) c.4918G>A (p.Asp1640Asn) c.1708G>A (p.Asp570Asn) | |
| 5 | g.177282546G>C | CA362315929 | NSD1 | c.5101G>C (p.Asp1701His) c.616G>C (p.Asp206His) n.5557G>C c.5665G>C (p.Asp1889His) n.5371G>C n.6121G>C n.4523G>C c.5974G>C (p.Asp1992His) c.5167G>C (p.Asp1723His) c.1468G>C (p.Asp490His) c.5554G>C (p.Asp1852His) c.4918G>C (p.Asp1640His) c.1708G>C (p.Asp570His) | |
| 5 | g.177282546G>T | CA362315930 | NSD1 | c.5101G>T (p.Asp1701Tyr) c.616G>T (p.Asp206Tyr) n.5557G>T c.5665G>T (p.Asp1889Tyr) n.5371G>T n.6121G>T n.4523G>T c.5974G>T (p.Asp1992Tyr) c.5167G>T (p.Asp1723Tyr) c.1468G>T (p.Asp490Tyr) c.5554G>T (p.Asp1852Tyr) c.4918G>T (p.Asp1640Tyr) c.1708G>T (p.Asp570Tyr) | |
| 5 | g.177282547A= | CA1603552100 | NSD1 | c.5102A= (p.Asp1701=) c.617A= (p.Asp206=) n.5558A= c.5666A= (p.Asp1889=) n.5372A= n.6122A= n.4524A= c.5975A= (p.Asp1992=) c.5168A= (p.Asp1723=) c.1469A= (p.Asp490=) c.5555A= (p.Asp1852=) c.4919A= (p.Asp1640=) c.1709A= (p.Asp570=) | |
| 5 | g.177282547A>C | CA362315933 | NSD1 | c.5102A>C (p.Asp1701Ala) c.617A>C (p.Asp206Ala) n.5558A>C c.5666A>C (p.Asp1889Ala) n.5372A>C n.6122A>C n.4524A>C c.5975A>C (p.Asp1992Ala) c.5168A>C (p.Asp1723Ala) c.1469A>C (p.Asp490Ala) c.5555A>C (p.Asp1852Ala) c.4919A>C (p.Asp1640Ala) c.1709A>C (p.Asp570Ala) | |
| 5 | g.177282547A>G | CA362315932 | NSD1 | c.5102A>G (p.Asp1701Gly) c.617A>G (p.Asp206Gly) n.5558A>G c.5666A>G (p.Asp1889Gly) n.5372A>G n.6122A>G n.4524A>G c.5975A>G (p.Asp1992Gly) c.5168A>G (p.Asp1723Gly) c.1469A>G (p.Asp490Gly) c.5555A>G (p.Asp1852Gly) c.4919A>G (p.Asp1640Gly) c.1709A>G (p.Asp570Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177282547A>T | CA362315931 | NSD1 | c.5102A>T (p.Asp1701Val) c.617A>T (p.Asp206Val) n.5558A>T c.5666A>T (p.Asp1889Val) n.5372A>T n.6122A>T n.4524A>T c.5975A>T (p.Asp1992Val) c.5168A>T (p.Asp1723Val) c.1469A>T (p.Asp490Val) c.5555A>T (p.Asp1852Val) c.4919A>T (p.Asp1640Val) c.1709A>T (p.Asp570Val) | dbSNP |
| 5 | g.177282548T>A | CA362315934 | NSD1 | c.5103T>A (p.Asp1701Glu) c.618T>A (p.Asp206Glu) n.5559T>A c.5667T>A (p.Asp1889Glu) n.5373T>A n.6123T>A n.4525T>A c.5976T>A (p.Asp1992Glu) c.5169T>A (p.Asp1723Glu) c.1470T>A (p.Asp490Glu) c.5556T>A (p.Asp1852Glu) c.4920T>A (p.Asp1640Glu) c.1710T>A (p.Asp570Glu) | dbSNP |
| 5 | g.177282548T>C | CA447737656 | NSD1 | c.5103T>C (p.Asp1701=) c.618T>C (p.Asp206=) n.5559T>C c.5667T>C (p.Asp1889=) n.5373T>C n.6123T>C n.4525T>C c.5976T>C (p.Asp1992=) c.5169T>C (p.Asp1723=) c.1470T>C (p.Asp490=) c.5556T>C (p.Asp1852=) c.4920T>C (p.Asp1640=) c.1710T>C (p.Asp570=) | |
| 5 | g.177282548T>G | CA362315935 | NSD1 | c.5103T>G (p.Asp1701Glu) c.618T>G (p.Asp206Glu) n.5559T>G c.5667T>G (p.Asp1889Glu) n.5373T>G n.6123T>G n.4525T>G c.5976T>G (p.Asp1992Glu) c.5169T>G (p.Asp1723Glu) c.1470T>G (p.Asp490Glu) c.5556T>G (p.Asp1852Glu) c.4920T>G (p.Asp1640Glu) c.1710T>G (p.Asp570Glu) | dbSNP |
| 5 | g.177282549A>C | CA362315936 | NSD1 | c.5104A>C (p.Ile1702Leu) c.619A>C (p.Ile207Leu) n.5560A>C c.5668A>C (p.Ile1890Leu) n.5374A>C n.6124A>C n.4526A>C c.5977A>C (p.Ile1993Leu) c.5170A>C (p.Ile1724Leu) c.1471A>C (p.Ile491Leu) c.5557A>C (p.Ile1853Leu) c.4921A>C (p.Ile1641Leu) c.1711A>C (p.Ile571Leu) | |
| 5 | g.177282549A>G | CA362315937 | NSD1 | c.5104A>G (p.Ile1702Val) c.619A>G (p.Ile207Val) n.5560A>G c.5668A>G (p.Ile1890Val) n.5374A>G n.6124A>G n.4526A>G c.5977A>G (p.Ile1993Val) c.5170A>G (p.Ile1724Val) c.1471A>G (p.Ile491Val) c.5557A>G (p.Ile1853Val) c.4921A>G (p.Ile1641Val) c.1711A>G (p.Ile571Val) | gnomAD v4 |
| 5 | g.177282549A>T | CA362315938 | NSD1 | c.5104A>T (p.Ile1702Phe) c.619A>T (p.Ile207Phe) n.5560A>T c.5668A>T (p.Ile1890Phe) n.5374A>T n.6124A>T n.4526A>T c.5977A>T (p.Ile1993Phe) c.5170A>T (p.Ile1724Phe) c.1471A>T (p.Ile491Phe) c.5557A>T (p.Ile1853Phe) c.4921A>T (p.Ile1641Phe) c.1711A>T (p.Ile571Phe) | |
| 5 | g.177282550T>A | CA362315939 | NSD1 | c.5105T>A (p.Ile1702Asn) c.620T>A (p.Ile207Asn) n.5561T>A c.5669T>A (p.Ile1890Asn) n.5375T>A n.6125T>A n.4527T>A c.5978T>A (p.Ile1993Asn) c.5171T>A (p.Ile1724Asn) c.1472T>A (p.Ile491Asn) c.5558T>A (p.Ile1853Asn) c.4922T>A (p.Ile1641Asn) c.1712T>A (p.Ile571Asn) | |
| 5 | g.177282550T>C | CA362315940 | NSD1 | c.5105T>C (p.Ile1702Thr) c.620T>C (p.Ile207Thr) n.5561T>C c.5669T>C (p.Ile1890Thr) n.5375T>C n.6125T>C n.4527T>C c.5978T>C (p.Ile1993Thr) c.5171T>C (p.Ile1724Thr) c.1472T>C (p.Ile491Thr) c.5558T>C (p.Ile1853Thr) c.4922T>C (p.Ile1641Thr) c.1712T>C (p.Ile571Thr) | |
| 5 | g.177282550T>G | CA362315941 | NSD1 | c.5105T>G (p.Ile1702Ser) c.620T>G (p.Ile207Ser) n.5561T>G c.5669T>G (p.Ile1890Ser) n.5375T>G n.6125T>G n.4527T>G c.5978T>G (p.Ile1993Ser) c.5171T>G (p.Ile1724Ser) c.1472T>G (p.Ile491Ser) c.5558T>G (p.Ile1853Ser) c.4922T>G (p.Ile1641Ser) c.1712T>G (p.Ile571Ser) | |
| 5 | g.177282551C>A | CA3577922 | NSD1 | c.5106C>A (p.Ile1702=) c.621C>A (p.Ile207=) n.5562C>A c.5670C>A (p.Ile1890=) n.5376C>A n.6126C>A n.4528C>A c.5979C>A (p.Ile1993=) c.5172C>A (p.Ile1724=) c.1473C>A (p.Ile491=) c.5559C>A (p.Ile1853=) c.4923C>A (p.Ile1641=) c.1713C>A (p.Ile571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177282551C= | CA1603552105 | NSD1 | c.5106C= (p.Ile1702=) c.621C= (p.Ile207=) n.5562C= c.5670C= (p.Ile1890=) n.5376C= n.6126C= n.4528C= c.5979C= (p.Ile1993=) c.5172C= (p.Ile1724=) c.1473C= (p.Ile491=) c.5559C= (p.Ile1853=) c.4923C= (p.Ile1641=) c.1713C= (p.Ile571=) | |
| 5 | g.177282551C>G | CA362315942 | NSD1 | c.5106C>G (p.Ile1702Met) c.621C>G (p.Ile207Met) n.5562C>G c.5670C>G (p.Ile1890Met) n.5376C>G n.6126C>G n.4528C>G c.5979C>G (p.Ile1993Met) c.5172C>G (p.Ile1724Met) c.1473C>G (p.Ile491Met) c.5559C>G (p.Ile1853Met) c.4923C>G (p.Ile1641Met) c.1713C>G (p.Ile571Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |