Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177280567A>CCA447961207NSD1c.4752A>C (p.Val1584=)
c.267A>C (p.Val89=)
n.5208A>C
n.374A>C
c.5316A>C (p.Val1772=)
n.5022A>C
n.5772A>C
n.2544A>C
c.5625A>C (p.Val1875=)
c.4818A>C (p.Val1606=)
c.1119A>C (p.Val373=)
c.5205A>C (p.Val1735=)
c.4569A>C (p.Val1523=)
c.1359A>C (p.Val453=)
5g.177280567A>GCA447961208NSD1c.4752A>G (p.Val1584=)
c.267A>G (p.Val89=)
n.5208A>G
n.374A>G
c.5316A>G (p.Val1772=)
n.5022A>G
n.5772A>G
n.2544A>G
c.5625A>G (p.Val1875=)
c.4818A>G (p.Val1606=)
c.1119A>G (p.Val373=)
c.5205A>G (p.Val1735=)
c.4569A>G (p.Val1523=)
c.1359A>G (p.Val453=)
5g.177280567A>TCA447961209NSD1c.4752A>T (p.Val1584=)
c.267A>T (p.Val89=)
n.5208A>T
n.374A>T
c.5316A>T (p.Val1772=)
n.5022A>T
n.5772A>T
n.2544A>T
c.5625A>T (p.Val1875=)
c.4818A>T (p.Val1606=)
c.1119A>T (p.Val373=)
c.5205A>T (p.Val1735=)
c.4569A>T (p.Val1523=)
c.1359A>T (p.Val453=)
5g.177280568A>CCA362311872NSD1c.4753A>C (p.Asn1585His)
c.268A>C (p.Asn90His)
n.5209A>C
n.375A>C
c.5317A>C (p.Asn1773His)
n.5023A>C
n.5773A>C
n.2545A>C
c.5626A>C (p.Asn1876His)
c.4819A>C (p.Asn1607His)
c.1120A>C (p.Asn374His)
c.5206A>C (p.Asn1736His)
c.4570A>C (p.Asn1524His)
c.1360A>C (p.Asn454His)
5g.177280568A>GCA362311876NSD1c.4753A>G (p.Asn1585Asp)
c.268A>G (p.Asn90Asp)
n.5209A>G
n.375A>G
c.5317A>G (p.Asn1773Asp)
n.5023A>G
n.5773A>G
n.2545A>G
c.5626A>G (p.Asn1876Asp)
c.4819A>G (p.Asn1607Asp)
c.1120A>G (p.Asn374Asp)
c.5206A>G (p.Asn1736Asp)
c.4570A>G (p.Asn1524Asp)
c.1360A>G (p.Asn454Asp)
5g.177280568A>TCA362311881NSD1c.4753A>T (p.Asn1585Tyr)
c.268A>T (p.Asn90Tyr)
n.5209A>T
n.375A>T
c.5317A>T (p.Asn1773Tyr)
n.5023A>T
n.5773A>T
n.2545A>T
c.5626A>T (p.Asn1876Tyr)
c.4819A>T (p.Asn1607Tyr)
c.1120A>T (p.Asn374Tyr)
c.5206A>T (p.Asn1736Tyr)
c.4570A>T (p.Asn1524Tyr)
c.1360A>T (p.Asn454Tyr)
5g.177280569A>CCA362311886NSD1c.4754A>C (p.Asn1585Thr)
c.269A>C (p.Asn90Thr)
n.5210A>C
n.376A>C
c.5318A>C (p.Asn1773Thr)
n.5024A>C
n.5774A>C
n.2546A>C
c.5627A>C (p.Asn1876Thr)
c.4820A>C (p.Asn1607Thr)
c.1121A>C (p.Asn374Thr)
c.5207A>C (p.Asn1736Thr)
c.4571A>C (p.Asn1524Thr)
c.1361A>C (p.Asn454Thr)
5g.177280569A>GCA362311888NSD1c.4754A>G (p.Asn1585Ser)
c.269A>G (p.Asn90Ser)
n.5210A>G
n.376A>G
c.5318A>G (p.Asn1773Ser)
n.5024A>G
n.5774A>G
n.2546A>G
c.5627A>G (p.Asn1876Ser)
c.4820A>G (p.Asn1607Ser)
c.1121A>G (p.Asn374Ser)
c.5207A>G (p.Asn1736Ser)
c.4571A>G (p.Asn1524Ser)
c.1361A>G (p.Asn454Ser)
 gnomAD v4
5g.177280569A>TCA362311889NSD1c.4754A>T (p.Asn1585Ile)
c.269A>T (p.Asn90Ile)
n.5210A>T
n.376A>T
c.5318A>T (p.Asn1773Ile)
n.5024A>T
n.5774A>T
n.2546A>T
c.5627A>T (p.Asn1876Ile)
c.4820A>T (p.Asn1607Ile)
c.1121A>T (p.Asn374Ile)
c.5207A>T (p.Asn1736Ile)
c.4571A>T (p.Asn1524Ile)
c.1361A>T (p.Asn454Ile)
5g.177280570C>ACA362311892NSD1c.4755C>A (p.Asn1585Lys)
c.270C>A (p.Asn90Lys)
n.5211C>A
n.377C>A
c.5319C>A (p.Asn1773Lys)
n.5025C>A
n.5775C>A
n.2547C>A
c.5628C>A (p.Asn1876Lys)
c.4821C>A (p.Asn1607Lys)
c.1122C>A (p.Asn374Lys)
c.5208C>A (p.Asn1736Lys)
c.4572C>A (p.Asn1524Lys)
c.1362C>A (p.Asn454Lys)
5g.177280570C>GCA362311894NSD1c.4755C>G (p.Asn1585Lys)
c.270C>G (p.Asn90Lys)
n.5211C>G
n.377C>G
c.5319C>G (p.Asn1773Lys)
n.5025C>G
n.5775C>G
n.2547C>G
c.5628C>G (p.Asn1876Lys)
c.4821C>G (p.Asn1607Lys)
c.1122C>G (p.Asn374Lys)
c.5208C>G (p.Asn1736Lys)
c.4572C>G (p.Asn1524Lys)
c.1362C>G (p.Asn454Lys)
5g.177280570C>TCA447961210NSD1c.4755C>T (p.Asn1585=)
c.270C>T (p.Asn90=)
n.5211C>T
n.377C>T
c.5319C>T (p.Asn1773=)
n.5025C>T
n.5775C>T
n.2547C>T
c.5628C>T (p.Asn1876=)
c.4821C>T (p.Asn1607=)
c.1122C>T (p.Asn374=)
c.5208C>T (p.Asn1736=)
c.4572C>T (p.Asn1524=)
c.1362C>T (p.Asn454=)
 dbSNP COSMIC COSMIC
5g.177280571C>ACA362311914NSD1c.4756C>A (p.Arg1586Ser)
c.271C>A (p.Arg91Ser)
n.5212C>A
n.378C>A
c.5320C>A (p.Arg1774Ser)
n.5026C>A
n.5776C>A
n.2548C>A
c.5629C>A (p.Arg1877Ser)
c.4822C>A (p.Arg1608Ser)
c.1123C>A (p.Arg375Ser)
c.5209C>A (p.Arg1737Ser)
c.4573C>A (p.Arg1525Ser)
c.1363C>A (p.Arg455Ser)
5g.177280571C>GCA362311904NSD1c.4756C>G (p.Arg1586Gly)
c.271C>G (p.Arg91Gly)
n.5212C>G
n.378C>G
c.5320C>G (p.Arg1774Gly)
n.5026C>G
n.5776C>G
n.2548C>G
c.5629C>G (p.Arg1877Gly)
c.4822C>G (p.Arg1608Gly)
c.1123C>G (p.Arg375Gly)
c.5209C>G (p.Arg1737Gly)
c.4573C>G (p.Arg1525Gly)
c.1363C>G (p.Arg455Gly)
5g.177280571C>TCA362311912NSD1c.4756C>T (p.Arg1586Cys)
c.271C>T (p.Arg91Cys)
n.5212C>T
n.378C>T
c.5320C>T (p.Arg1774Cys)
n.5026C>T
n.5776C>T
n.2548C>T
c.5629C>T (p.Arg1877Cys)
c.4822C>T (p.Arg1608Cys)
c.1123C>T (p.Arg375Cys)
c.5209C>T (p.Arg1737Cys)
c.4573C>T (p.Arg1525Cys)
c.1363C>T (p.Arg455Cys)
 ClinVar dbSNP
5g.177280572G>ACA362311919NSD1c.4757G>A (p.Arg1586His)
c.272G>A (p.Arg91His)
n.5213G>A
n.379G>A
c.5321G>A (p.Arg1774His)
n.5027G>A
n.5777G>A
n.2549G>A
c.5630G>A (p.Arg1877His)
c.4823G>A (p.Arg1608His)
c.1124G>A (p.Arg375His)
c.5210G>A (p.Arg1737His)
c.4574G>A (p.Arg1525His)
c.1364G>A (p.Arg455His)
 ClinVar dbSNP gnomAD v4
5g.177280572G>CCA362311922NSD1c.4757G>C (p.Arg1586Pro)
c.272G>C (p.Arg91Pro)
n.5213G>C
n.379G>C
c.5321G>C (p.Arg1774Pro)
n.5027G>C
n.5777G>C
n.2549G>C
c.5630G>C (p.Arg1877Pro)
c.4823G>C (p.Arg1608Pro)
c.1124G>C (p.Arg375Pro)
c.5210G>C (p.Arg1737Pro)
c.4574G>C (p.Arg1525Pro)
c.1364G>C (p.Arg455Pro)
5g.177280572G=CA1603550225NSD1c.4757G= (p.Arg1586=)
c.272G= (p.Arg91=)
n.5213G=
n.379G=
c.5321G= (p.Arg1774=)
n.5027G=
n.5777G=
n.2549G=
c.5630G= (p.Arg1877=)
c.4823G= (p.Arg1608=)
c.1124G= (p.Arg375=)
c.5210G= (p.Arg1737=)
c.4574G= (p.Arg1525=)
c.1364G= (p.Arg455=)
5g.177280572G>TCA362311923NSD1c.4757G>T (p.Arg1586Leu)
c.272G>T (p.Arg91Leu)
n.5213G>T
n.379G>T
c.5321G>T (p.Arg1774Leu)
n.5027G>T
n.5777G>T
n.2549G>T
c.5630G>T (p.Arg1877Leu)
c.4823G>T (p.Arg1608Leu)
c.1124G>T (p.Arg375Leu)
c.5210G>T (p.Arg1737Leu)
c.4574G>T (p.Arg1525Leu)
c.1364G>T (p.Arg455Leu)
5g.177280573T>ACA447961211NSD1c.4758T>A (p.Arg1586=)
c.273T>A (p.Arg91=)
n.5214T>A
n.380T>A
c.5322T>A (p.Arg1774=)
n.5028T>A
n.5778T>A
n.2550T>A
c.5631T>A (p.Arg1877=)
c.4824T>A (p.Arg1608=)
c.1125T>A (p.Arg375=)
c.5211T>A (p.Arg1737=)
c.4575T>A (p.Arg1525=)
c.1365T>A (p.Arg455=)
5g.177280573T>CCA3577880NSD1c.4758T>C (p.Arg1586=)
c.273T>C (p.Arg91=)
n.5214T>C
n.380T>C
c.5322T>C (p.Arg1774=)
n.5028T>C
n.5778T>C
n.2550T>C
c.5631T>C (p.Arg1877=)
c.4824T>C (p.Arg1608=)
c.1125T>C (p.Arg375=)
c.5211T>C (p.Arg1737=)
c.4575T>C (p.Arg1525=)
c.1365T>C (p.Arg455=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280573T>GCA447961212NSD1c.4758T>G (p.Arg1586=)
c.273T>G (p.Arg91=)
n.5214T>G
n.380T>G
c.5322T>G (p.Arg1774=)
n.5028T>G
n.5778T>G
n.2550T>G
c.5631T>G (p.Arg1877=)
c.4824T>G (p.Arg1608=)
c.1125T>G (p.Arg375=)
c.5211T>G (p.Arg1737=)
c.4575T>G (p.Arg1525=)
c.1365T>G (p.Arg455=)
5g.177280573T=CA1603550230NSD1c.4758T= (p.Arg1586=)
c.273T= (p.Arg91=)
n.5214T=
n.380T=
c.5322T= (p.Arg1774=)
n.5028T=
n.5778T=
n.2550T=
c.5631T= (p.Arg1877=)
c.4824T= (p.Arg1608=)
c.1125T= (p.Arg375=)
c.5211T= (p.Arg1737=)
c.4575T= (p.Arg1525=)
c.1365T= (p.Arg455=)
5g.177280574C>ACA362311926NSD1c.4759C>A (p.Pro1587Thr)
c.274C>A (p.Pro92Thr)
n.5215C>A
n.381C>A
c.5323C>A (p.Pro1775Thr)
n.5029C>A
n.5779C>A
n.2551C>A
c.5632C>A (p.Pro1878Thr)
c.4825C>A (p.Pro1609Thr)
c.1126C>A (p.Pro376Thr)
c.5212C>A (p.Pro1738Thr)
c.4576C>A (p.Pro1526Thr)
c.1366C>A (p.Pro456Thr)
5g.177280574C>GCA362311929NSD1c.4759C>G (p.Pro1587Ala)
c.274C>G (p.Pro92Ala)
n.5215C>G
n.381C>G
c.5323C>G (p.Pro1775Ala)
n.5029C>G
n.5779C>G
n.2551C>G
c.5632C>G (p.Pro1878Ala)
c.4825C>G (p.Pro1609Ala)
c.1126C>G (p.Pro376Ala)
c.5212C>G (p.Pro1738Ala)
c.4576C>G (p.Pro1526Ala)
c.1366C>G (p.Pro456Ala)
5g.177280574C>TCA362311930NSD1c.4759C>T (p.Pro1587Ser)
c.274C>T (p.Pro92Ser)
n.5215C>T
n.381C>T
c.5323C>T (p.Pro1775Ser)
n.5029C>T
n.5779C>T
n.2551C>T
c.5632C>T (p.Pro1878Ser)
c.4825C>T (p.Pro1609Ser)
c.1126C>T (p.Pro376Ser)
c.5212C>T (p.Pro1738Ser)
c.4576C>T (p.Pro1526Ser)
c.1366C>T (p.Pro456Ser)
5g.177280575C>ACA362311934NSD1c.4760C>A (p.Pro1587His)
c.275C>A (p.Pro92His)
n.5216C>A
n.382C>A
c.5324C>A (p.Pro1775His)
n.5030C>A
n.5780C>A
n.2552C>A
c.5633C>A (p.Pro1878His)
c.4826C>A (p.Pro1609His)
c.1127C>A (p.Pro376His)
c.5213C>A (p.Pro1738His)
c.4577C>A (p.Pro1526His)
c.1367C>A (p.Pro456His)
5g.177280575C>GCA362311941NSD1c.4760C>G (p.Pro1587Arg)
c.275C>G (p.Pro92Arg)
n.5216C>G
n.382C>G
c.5324C>G (p.Pro1775Arg)
n.5030C>G
n.5780C>G
n.2552C>G
c.5633C>G (p.Pro1878Arg)
c.4826C>G (p.Pro1609Arg)
c.1127C>G (p.Pro376Arg)
c.5213C>G (p.Pro1738Arg)
c.4577C>G (p.Pro1526Arg)
c.1367C>G (p.Pro456Arg)
5g.177280575C>TCA362311946NSD1c.4760C>T (p.Pro1587Leu)
c.275C>T (p.Pro92Leu)
n.5216C>T
n.382C>T
c.5324C>T (p.Pro1775Leu)
n.5030C>T
n.5780C>T
n.2552C>T
c.5633C>T (p.Pro1878Leu)
c.4826C>T (p.Pro1609Leu)
c.1127C>T (p.Pro376Leu)
c.5213C>T (p.Pro1738Leu)
c.4577C>T (p.Pro1526Leu)
c.1367C>T (p.Pro456Leu)
5g.177280576T>ACA447961213NSD1c.4761T>A (p.Pro1587=)
c.276T>A (p.Pro92=)
n.5217T>A
n.383T>A
c.5325T>A (p.Pro1775=)
n.5031T>A
n.5781T>A
n.2553T>A
c.5634T>A (p.Pro1878=)
c.4827T>A (p.Pro1609=)
c.1128T>A (p.Pro376=)
c.5214T>A (p.Pro1738=)
c.4578T>A (p.Pro1526=)
c.1368T>A (p.Pro456=)
5g.177280576T>CCA447961214NSD1c.4761T>C (p.Pro1587=)
c.276T>C (p.Pro92=)
n.5217T>C
n.383T>C
c.5325T>C (p.Pro1775=)
n.5031T>C
n.5781T>C
n.2553T>C
c.5634T>C (p.Pro1878=)
c.4827T>C (p.Pro1609=)
c.1128T>C (p.Pro376=)
c.5214T>C (p.Pro1738=)
c.4578T>C (p.Pro1526=)
c.1368T>C (p.Pro456=)
5g.177280576T>GCA447961215NSD1c.4761T>G (p.Pro1587=)
c.276T>G (p.Pro92=)
n.5217T>G
n.383T>G
c.5325T>G (p.Pro1775=)
n.5031T>G
n.5781T>G
n.2553T>G
c.5634T>G (p.Pro1878=)
c.4827T>G (p.Pro1609=)
c.1128T>G (p.Pro376=)
c.5214T>G (p.Pro1738=)
c.4578T>G (p.Pro1526=)
c.1368T>G (p.Pro456=)
5g.177280577A=CA1603550235NSD1c.4762A= (p.Ile1588=)
c.277A= (p.Ile93=)
n.5218A=
n.384A=
c.5326A= (p.Ile1776=)
n.5032A=
n.5782A=
n.2554A=
c.5635A= (p.Ile1879=)
c.4828A= (p.Ile1610=)
c.1129A= (p.Ile377=)
c.5215A= (p.Ile1739=)
c.4579A= (p.Ile1527=)
c.1369A= (p.Ile457=)
5g.177280577A>CCA362311968NSD1c.4762A>C (p.Ile1588Leu)
c.277A>C (p.Ile93Leu)
n.5218A>C
n.384A>C
c.5326A>C (p.Ile1776Leu)
n.5032A>C
n.5782A>C
n.2554A>C
c.5635A>C (p.Ile1879Leu)
c.4828A>C (p.Ile1610Leu)
c.1129A>C (p.Ile377Leu)
c.5215A>C (p.Ile1739Leu)
c.4579A>C (p.Ile1527Leu)
c.1369A>C (p.Ile457Leu)
5g.177280577A>GCA241097NSD1c.4762A>G (p.Ile1588Val)
c.277A>G (p.Ile93Val)
n.5218A>G
n.384A>G
c.5326A>G (p.Ile1776Val)
n.5032A>G
n.5782A>G
n.2554A>G
c.5635A>G (p.Ile1879Val)
c.4828A>G (p.Ile1610Val)
c.1129A>G (p.Ile377Val)
c.5215A>G (p.Ile1739Val)
c.4579A>G (p.Ile1527Val)
c.1369A>G (p.Ile457Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280577A>TCA362311958NSD1c.4762A>T (p.Ile1588Phe)
c.277A>T (p.Ile93Phe)
n.5218A>T
n.384A>T
c.5326A>T (p.Ile1776Phe)
n.5032A>T
n.5782A>T
n.2554A>T
c.5635A>T (p.Ile1879Phe)
c.4828A>T (p.Ile1610Phe)
c.1129A>T (p.Ile377Phe)
c.5215A>T (p.Ile1739Phe)
c.4579A>T (p.Ile1527Phe)
c.1369A>T (p.Ile457Phe)
5g.177280578T>ACA362311973NSD1c.4763T>A (p.Ile1588Asn)
c.278T>A (p.Ile93Asn)
n.5219T>A
n.385T>A
c.5327T>A (p.Ile1776Asn)
n.5033T>A
n.5783T>A
n.2555T>A
c.5636T>A (p.Ile1879Asn)
c.4829T>A (p.Ile1610Asn)
c.1130T>A (p.Ile377Asn)
c.5216T>A (p.Ile1739Asn)
c.4580T>A (p.Ile1527Asn)
c.1370T>A (p.Ile457Asn)
5g.177280578T>CCA362311977NSD1c.4763T>C (p.Ile1588Thr)
c.278T>C (p.Ile93Thr)
n.5219T>C
n.385T>C
c.5327T>C (p.Ile1776Thr)
n.5033T>C
n.5783T>C
n.2555T>C
c.5636T>C (p.Ile1879Thr)
c.4829T>C (p.Ile1610Thr)
c.1130T>C (p.Ile377Thr)
c.5216T>C (p.Ile1739Thr)
c.4580T>C (p.Ile1527Thr)
c.1370T>C (p.Ile457Thr)
5g.177280578T>GCA362311978NSD1c.4763T>G (p.Ile1588Ser)
c.278T>G (p.Ile93Ser)
n.5219T>G
n.385T>G
c.5327T>G (p.Ile1776Ser)
n.5033T>G
n.5783T>G
n.2555T>G
c.5636T>G (p.Ile1879Ser)
c.4829T>G (p.Ile1610Ser)
c.1130T>G (p.Ile377Ser)
c.5216T>G (p.Ile1739Ser)
c.4580T>G (p.Ile1527Ser)
c.1370T>G (p.Ile457Ser)
5g.177280579T>ACA447961216NSD1c.4764T>A (p.Ile1588=)
c.279T>A (p.Ile93=)
n.5220T>A
n.386T>A
c.5328T>A (p.Ile1776=)
n.5034T>A
n.5784T>A
n.2556T>A
c.5637T>A (p.Ile1879=)
c.4830T>A (p.Ile1610=)
c.1131T>A (p.Ile377=)
c.5217T>A (p.Ile1739=)
c.4581T>A (p.Ile1527=)
c.1371T>A (p.Ile457=)
5g.177280579T>CCA447961217NSD1c.4764T>C (p.Ile1588=)
c.279T>C (p.Ile93=)
n.5220T>C
n.386T>C
c.5328T>C (p.Ile1776=)
n.5034T>C
n.5784T>C
n.2556T>C
c.5637T>C (p.Ile1879=)
c.4830T>C (p.Ile1610=)
c.1131T>C (p.Ile377=)
c.5217T>C (p.Ile1739=)
c.4581T>C (p.Ile1527=)
c.1371T>C (p.Ile457=)
5g.177280579T>GCA362311981NSD1c.4764T>G (p.Ile1588Met)
c.279T>G (p.Ile93Met)
n.5220T>G
n.386T>G
c.5328T>G (p.Ile1776Met)
n.5034T>G
n.5784T>G
n.2556T>G
c.5637T>G (p.Ile1879Met)
c.4830T>G (p.Ile1610Met)
c.1131T>G (p.Ile377Met)
c.5217T>G (p.Ile1739Met)
c.4581T>G (p.Ile1527Met)
c.1371T>G (p.Ile457Met)
5g.177280580G>ACA362311986NSD1c.4765G>A (p.Gly1589Ser)
c.280G>A (p.Gly94Ser)
n.5221G>A
n.387G>A
c.5329G>A (p.Gly1777Ser)
n.5035G>A
n.5785G>A
n.2557G>A
c.5638G>A (p.Gly1880Ser)
c.4831G>A (p.Gly1611Ser)
c.1132G>A (p.Gly378Ser)
c.5218G>A (p.Gly1740Ser)
c.4582G>A (p.Gly1528Ser)
c.1372G>A (p.Gly458Ser)
5g.177280580G>CCA362311987NSD1c.4765G>C (p.Gly1589Arg)
c.280G>C (p.Gly94Arg)
n.5221G>C
n.387G>C
c.5329G>C (p.Gly1777Arg)
n.5035G>C
n.5785G>C
n.2557G>C
c.5638G>C (p.Gly1880Arg)
c.4831G>C (p.Gly1611Arg)
c.1132G>C (p.Gly378Arg)
c.5218G>C (p.Gly1740Arg)
c.4582G>C (p.Gly1528Arg)
c.1372G>C (p.Gly458Arg)
5g.177280580G>TCA362311988NSD1c.4765G>T (p.Gly1589Cys)
c.280G>T (p.Gly94Cys)
n.5221G>T
n.387G>T
c.5329G>T (p.Gly1777Cys)
n.5035G>T
n.5785G>T
n.2557G>T
c.5638G>T (p.Gly1880Cys)
c.4831G>T (p.Gly1611Cys)
c.1132G>T (p.Gly378Cys)
c.5218G>T (p.Gly1740Cys)
c.4582G>T (p.Gly1528Cys)
c.1372G>T (p.Gly458Cys)
5g.177280581G>ACA3577881NSD1c.4766G>A (p.Gly1589Asp)
c.281G>A (p.Gly94Asp)
n.5222G>A
n.388G>A
c.5330G>A (p.Gly1777Asp)
n.5036G>A
n.5786G>A
n.2558G>A
c.5639G>A (p.Gly1880Asp)
c.4832G>A (p.Gly1611Asp)
c.1133G>A (p.Gly378Asp)
c.5219G>A (p.Gly1740Asp)
c.4583G>A (p.Gly1528Asp)
c.1373G>A (p.Gly458Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280581G>CCA362311989NSD1c.4766G>C (p.Gly1589Ala)
c.281G>C (p.Gly94Ala)
n.5222G>C
n.388G>C
c.5330G>C (p.Gly1777Ala)
n.5036G>C
n.5786G>C
n.2558G>C
c.5639G>C (p.Gly1880Ala)
c.4832G>C (p.Gly1611Ala)
c.1133G>C (p.Gly378Ala)
c.5219G>C (p.Gly1740Ala)
c.4583G>C (p.Gly1528Ala)
c.1373G>C (p.Gly458Ala)
5g.177280581G=CA1603550248NSD1c.4766G= (p.Gly1589=)
c.281G= (p.Gly94=)
n.5222G=
n.388G=
c.5330G= (p.Gly1777=)
n.5036G=
n.5786G=
n.2558G=
c.5639G= (p.Gly1880=)
c.4832G= (p.Gly1611=)
c.1133G= (p.Gly378=)
c.5219G= (p.Gly1740=)
c.4583G= (p.Gly1528=)
c.1373G= (p.Gly458=)
5g.177280581G>TCA362311993NSD1c.4766G>T (p.Gly1589Val)
c.281G>T (p.Gly94Val)
n.5222G>T
n.388G>T
c.5330G>T (p.Gly1777Val)
n.5036G>T
n.5786G>T
n.2558G>T
c.5639G>T (p.Gly1880Val)
c.4832G>T (p.Gly1611Val)
c.1133G>T (p.Gly378Val)
c.5219G>T (p.Gly1740Val)
c.4583G>T (p.Gly1528Val)
c.1373G>T (p.Gly458Val)
5g.177280582C>ACA447961218NSD1c.4767C>A (p.Gly1589=)
c.282C>A (p.Gly94=)
n.5223C>A
n.389C>A
c.5331C>A (p.Gly1777=)
n.5037C>A
n.5787C>A
n.2559C>A
c.5640C>A (p.Gly1880=)
c.4833C>A (p.Gly1611=)
c.1134C>A (p.Gly378=)
c.5220C>A (p.Gly1740=)
c.4584C>A (p.Gly1528=)
c.1374C>A (p.Gly458=)
5g.177280582C>GCA447961220NSD1c.4767C>G (p.Gly1589=)
c.282C>G (p.Gly94=)
n.5223C>G
n.389C>G
c.5331C>G (p.Gly1777=)
n.5037C>G
n.5787C>G
n.2559C>G
c.5640C>G (p.Gly1880=)
c.4833C>G (p.Gly1611=)
c.1134C>G (p.Gly378=)
c.5220C>G (p.Gly1740=)
c.4584C>G (p.Gly1528=)
c.1374C>G (p.Gly458=)
5g.177280582C>TCA447961219NSD1c.4767C>T (p.Gly1589=)
c.282C>T (p.Gly94=)
n.5223C>T
n.389C>T
c.5331C>T (p.Gly1777=)
n.5037C>T
n.5787C>T
n.2559C>T
c.5640C>T (p.Gly1880=)
c.4833C>T (p.Gly1611=)
c.1134C>T (p.Gly378=)
c.5220C>T (p.Gly1740=)
c.4584C>T (p.Gly1528=)
c.1374C>T (p.Gly458=)
 dbSNP
5g.177280583A>CCA447961221NSD1c.4768A>C (p.Arg1590=)
c.283A>C (p.Arg95=)
n.5224A>C
n.390A>C
c.5332A>C (p.Arg1778=)
n.5038A>C
n.5788A>C
n.2560A>C
c.5641A>C (p.Arg1881=)
c.4834A>C (p.Arg1612=)
c.283A>C
c.1135A>C (p.Arg379=)
c.5221A>C (p.Arg1741=)
c.4585A>C (p.Arg1529=)
c.1375A>C (p.Arg459=)
5g.177280583A>GCA362311994NSD1c.4768A>G (p.Arg1590Gly)
c.283A>G (p.Arg95Gly)
n.5224A>G
n.390A>G
c.5332A>G (p.Arg1778Gly)
n.5038A>G
n.5788A>G
n.2560A>G
c.5641A>G (p.Arg1881Gly)
c.4834A>G (p.Arg1612Gly)
c.283A>G
c.1135A>G (p.Arg379Gly)
c.5221A>G (p.Arg1741Gly)
c.4585A>G (p.Arg1529Gly)
c.1375A>G (p.Arg459Gly)
5g.177280583A>TCA362311995NSD1c.4768A>T (p.Arg1590Trp)
c.283A>T (p.Arg95Trp)
n.5224A>T
n.390A>T
c.5332A>T (p.Arg1778Trp)
n.5038A>T
n.5788A>T
n.2560A>T
c.5641A>T (p.Arg1881Trp)
c.4834A>T (p.Arg1612Trp)
c.283A>T
c.1135A>T (p.Arg379Trp)
c.5221A>T (p.Arg1741Trp)
c.4585A>T (p.Arg1529Trp)
c.1375A>T (p.Arg459Trp)
5g.177280584G>ACA362312009NSD1c.4769G>A (p.Arg1590Lys)
c.284G>A (p.Arg95Lys)
n.5225G>A
n.391G>A
c.5333G>A (p.Arg1778Lys)
n.5039G>A
n.5789G>A
n.2561G>A
c.5642G>A (p.Arg1881Lys)
c.4835G>A (p.Arg1612Lys)
c.1136G>A (p.Arg379Lys)
c.5222G>A (p.Arg1741Lys)
c.4586G>A (p.Arg1529Lys)
c.1376G>A (p.Arg459Lys)
5g.177280584G>CCA362311997NSD1c.4769G>C (p.Arg1590Thr)
c.284G>C (p.Arg95Thr)
n.5225G>C
n.391G>C
c.5333G>C (p.Arg1778Thr)
n.5039G>C
n.5789G>C
n.2561G>C
c.5642G>C (p.Arg1881Thr)
c.4835G>C (p.Arg1612Thr)
c.1136G>C (p.Arg379Thr)
c.5222G>C (p.Arg1741Thr)
c.4586G>C (p.Arg1529Thr)
c.1376G>C (p.Arg459Thr)
5g.177280584G>TCA362312007NSD1c.4769G>T (p.Arg1590Met)
c.284G>T (p.Arg95Met)
n.5225G>T
n.391G>T
c.5333G>T (p.Arg1778Met)
n.5039G>T
n.5789G>T
n.2561G>T
c.5642G>T (p.Arg1881Met)
c.4835G>T (p.Arg1612Met)
c.1136G>T (p.Arg379Met)
c.5222G>T (p.Arg1741Met)
c.4586G>T (p.Arg1529Met)
c.1376G>T (p.Arg459Met)
5g.177280586delCA2695205711NSD1c.4771del (p.Val1591TyrfsTer26)
c.286del (p.Val96TyrfsTer26)
n.5227del
n.393del
c.5335del (p.Val1779TyrfsTer26)
n.5041del
n.5791del
n.2563del
c.5644del (p.Val1882TyrfsTer26)
c.4837del (p.Val1613TyrfsTer26)
c.1138del (p.Val380TyrfsTer26)
c.5224del (p.Val1742TyrfsTer26)
c.4588del (p.Val1530TyrfsTer26)
c.1378del (p.Val460TyrfsTer26)
5g.177280585G>ACA447961222NSD1c.4770G>A (p.Arg1590=)
c.285G>A (p.Arg95=)
n.5226G>A
n.392G>A
c.5334G>A (p.Arg1778=)
n.5040G>A
n.5790G>A
n.2562G>A
c.5643G>A (p.Arg1881=)
c.4836G>A (p.Arg1612=)
c.1137G>A (p.Arg379=)
c.5223G>A (p.Arg1741=)
c.4587G>A (p.Arg1529=)
c.1377G>A (p.Arg459=)
5g.177280585G>CCA362312014NSD1c.4770G>C (p.Arg1590Ser)
c.285G>C (p.Arg95Ser)
n.5226G>C
n.392G>C
c.5334G>C (p.Arg1778Ser)
n.5040G>C
n.5790G>C
n.2562G>C
c.5643G>C (p.Arg1881Ser)
c.4836G>C (p.Arg1612Ser)
c.1137G>C (p.Arg379Ser)
c.5223G>C (p.Arg1741Ser)
c.4587G>C (p.Arg1529Ser)
c.1377G>C (p.Arg459Ser)
5g.177280585G>TCA362312017NSD1c.4770G>T (p.Arg1590Ser)
c.285G>T (p.Arg95Ser)
n.5226G>T
n.392G>T
c.5334G>T (p.Arg1778Ser)
n.5040G>T
n.5790G>T
n.2562G>T
c.5643G>T (p.Arg1881Ser)
c.4836G>T (p.Arg1612Ser)
c.1137G>T (p.Arg379Ser)
c.5223G>T (p.Arg1741Ser)
c.4587G>T (p.Arg1529Ser)
c.1377G>T (p.Arg459Ser)
5g.177280586G>ACA16040430NSD1c.4771G>A (p.Val1591Ile)
c.286G>A (p.Val96Ile)
n.5227G>A
n.393G>A
c.5335G>A (p.Val1779Ile)
n.5041G>A
n.5791G>A
n.2563G>A
c.5644G>A (p.Val1882Ile)
c.4837G>A (p.Val1613Ile)
c.1138G>A (p.Val380Ile)
c.5224G>A (p.Val1742Ile)
c.4588G>A (p.Val1530Ile)
c.1378G>A (p.Val460Ile)
 dbSNP gnomAD v2 gnomAD v4
5g.177280586G>CCA362312025NSD1c.4771G>C (p.Val1591Leu)
c.286G>C (p.Val96Leu)
n.5227G>C
n.393G>C
c.5335G>C (p.Val1779Leu)
n.5041G>C
n.5791G>C
n.2563G>C
c.5644G>C (p.Val1882Leu)
c.4837G>C (p.Val1613Leu)
c.1138G>C (p.Val380Leu)
c.5224G>C (p.Val1742Leu)
c.4588G>C (p.Val1530Leu)
c.1378G>C (p.Val460Leu)
5g.177280586G=CA1603550254NSD1c.4771G= (p.Val1591=)
c.286G= (p.Val96=)
n.5227G=
n.393G=
c.5335G= (p.Val1779=)
n.5041G=
n.5791G=
n.2563G=
c.5644G= (p.Val1882=)
c.4837G= (p.Val1613=)
c.1138G= (p.Val380=)
c.5224G= (p.Val1742=)
c.4588G= (p.Val1530=)
c.1378G= (p.Val460=)
5g.177280586G>TCA362312027NSD1c.4771G>T (p.Val1591Leu)
c.286G>T (p.Val96Leu)
n.5227G>T
n.393G>T
c.5335G>T (p.Val1779Leu)
n.5041G>T
n.5791G>T
n.2563G>T
c.5644G>T (p.Val1882Leu)
c.4837G>T (p.Val1613Leu)
c.1138G>T (p.Val380Leu)
c.5224G>T (p.Val1742Leu)
c.4588G>T (p.Val1530Leu)
c.1378G>T (p.Val460Leu)
5g.177280586_177280597delinsTGTACA2739289831NSD1c.4771_4782delinsTGTA (p.Val1591CysfsTer7)
c.286_297delinsTGTA (p.Val96CysfsTer7)
n.5227_5238delinsTGTA
n.393_404delinsTGTA
c.5335_5346delinsTGTA (p.Val1779CysfsTer7)
n.5041_5052delinsTGTA
n.5791_5802delinsTGTA
n.2563_2574delinsTGTA
c.5644_5655delinsTGTA (p.Val1882CysfsTer7)
c.4837_4848delinsTGTA (p.Val1613CysfsTer7)
c.1138_1149delinsTGTA (p.Val380CysfsTer7)
c.5224_5235delinsTGTA (p.Val1742CysfsTer7)
c.4588_4599delinsTGTA (p.Val1530CysfsTer7)
c.1378_1389delinsTGTA (p.Val460CysfsTer7)
5g.177280587T>ACA3577883NSD1c.4772T>A (p.Val1591Glu)
c.287T>A (p.Val96Glu)
n.5228T>A
n.394T>A
c.5336T>A (p.Val1779Glu)
n.5042T>A
n.5792T>A
n.2564T>A
c.5645T>A (p.Val1882Glu)
c.4838T>A (p.Val1613Glu)
c.1139T>A (p.Val380Glu)
c.5225T>A (p.Val1742Glu)
c.4589T>A (p.Val1530Glu)
c.1379T>A (p.Val460Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280587T>CCA362312028NSD1c.4772T>C (p.Val1591Ala)
c.287T>C (p.Val96Ala)
n.5228T>C
n.394T>C
c.5336T>C (p.Val1779Ala)
n.5042T>C
n.5792T>C
n.2564T>C
c.5645T>C (p.Val1882Ala)
c.4838T>C (p.Val1613Ala)
c.1139T>C (p.Val380Ala)
c.5225T>C (p.Val1742Ala)
c.4589T>C (p.Val1530Ala)
c.1379T>C (p.Val460Ala)
5g.177280587T>GCA3577882NSD1c.4772T>G (p.Val1591Gly)
c.287T>G (p.Val96Gly)
n.5228T>G
n.394T>G
c.5336T>G (p.Val1779Gly)
n.5042T>G
n.5792T>G
n.2564T>G
c.5645T>G (p.Val1882Gly)
c.4838T>G (p.Val1613Gly)
c.1139T>G (p.Val380Gly)
c.5225T>G (p.Val1742Gly)
c.4589T>G (p.Val1530Gly)
c.1379T>G (p.Val460Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280587T=CA1603550260NSD1c.4772T= (p.Val1591=)
c.287T= (p.Val96=)
n.5228T=
n.394T=
c.5336T= (p.Val1779=)
n.5042T=
n.5792T=
n.2564T=
c.5645T= (p.Val1882=)
c.4838T= (p.Val1613=)
c.1139T= (p.Val380=)
c.5225T= (p.Val1742=)
c.4589T= (p.Val1530=)
c.1379T= (p.Val460=)
5g.177280588A=CA1603550262NSD1c.4773A= (p.Val1591=)
c.288A= (p.Val96=)
n.5229A=
n.395A=
c.5337A= (p.Val1779=)
n.5043A=
n.5793A=
n.2565A=
c.5646A= (p.Val1882=)
c.4839A= (p.Val1613=)
c.1140A= (p.Val380=)
c.5226A= (p.Val1742=)
c.4590A= (p.Val1530=)
c.1380A= (p.Val460=)
5g.177280588A>CCA447961223NSD1c.4773A>C (p.Val1591=)
c.288A>C (p.Val96=)
n.5229A>C
n.395A>C
c.5337A>C (p.Val1779=)
n.5043A>C
n.5793A>C
n.2565A>C
c.5646A>C (p.Val1882=)
c.4839A>C (p.Val1613=)
c.1140A>C (p.Val380=)
c.5226A>C (p.Val1742=)
c.4590A>C (p.Val1530=)
c.1380A>C (p.Val460=)
5g.177280588A>GCA447961224NSD1c.4773A>G (p.Val1591=)
c.288A>G (p.Val96=)
n.5229A>G
n.395A>G
c.5337A>G (p.Val1779=)
n.5043A>G
n.5793A>G
n.2565A>G
c.5646A>G (p.Val1882=)
c.4839A>G (p.Val1613=)
c.1140A>G (p.Val380=)
c.5226A>G (p.Val1742=)
c.4590A>G (p.Val1530=)
c.1380A>G (p.Val460=)
 dbSNP gnomAD v2 gnomAD v4
5g.177280588A>TCA447961225NSD1c.4773A>T (p.Val1591=)
c.288A>T (p.Val96=)
n.5229A>T
n.395A>T
c.5337A>T (p.Val1779=)
n.5043A>T
n.5793A>T
n.2565A>T
c.5646A>T (p.Val1882=)
c.4839A>T (p.Val1613=)
c.1140A>T (p.Val380=)
c.5226A>T (p.Val1742=)
c.4590A>T (p.Val1530=)
c.1380A>T (p.Val460=)
5g.177280589C>ACA362312030NSD1c.4774C>A (p.Gln1592Lys)
c.289C>A (p.Gln97Lys)
n.5230C>A
n.396C>A
c.5338C>A (p.Gln1780Lys)
n.5044C>A
n.5794C>A
n.2566C>A
c.5647C>A (p.Gln1883Lys)
c.4840C>A (p.Gln1614Lys)
c.1141C>A (p.Gln381Lys)
c.5227C>A (p.Gln1743Lys)
c.4591C>A (p.Gln1531Lys)
c.1381C>A (p.Gln461Lys)
5g.177280589C>GCA362312033NSD1c.4774C>G (p.Gln1592Glu)
c.289C>G (p.Gln97Glu)
n.5230C>G
n.396C>G
c.5338C>G (p.Gln1780Glu)
n.5044C>G
n.5794C>G
n.2566C>G
c.5647C>G (p.Gln1883Glu)
c.4840C>G (p.Gln1614Glu)
c.1141C>G (p.Gln381Glu)
c.5227C>G (p.Gln1743Glu)
c.4591C>G (p.Gln1531Glu)
c.1381C>G (p.Gln461Glu)
 dbSNP gnomAD v4
5g.177280589C>TCA362312036NSD1c.4774C>T (p.Gln1592Ter)
c.289C>T (p.Gln97Ter)
n.5230C>T
n.396C>T
c.5338C>T (p.Gln1780Ter)
n.5044C>T
n.5794C>T
n.2566C>T
c.5647C>T (p.Gln1883Ter)
c.4840C>T (p.Gln1614Ter)
c.1141C>T (p.Gln381Ter)
c.5227C>T (p.Gln1743Ter)
c.4591C>T (p.Gln1531Ter)
c.1381C>T (p.Gln461Ter)
 dbSNP
5g.177280590A>CCA362312054NSD1c.4775A>C (p.Gln1592Pro)
c.290A>C (p.Gln97Pro)
n.5231A>C
n.397A>C
c.5339A>C (p.Gln1780Pro)
n.5045A>C
n.5795A>C
n.2567A>C
c.5648A>C (p.Gln1883Pro)
c.4841A>C (p.Gln1614Pro)
c.1142A>C (p.Gln381Pro)
c.5228A>C (p.Gln1743Pro)
c.4592A>C (p.Gln1531Pro)
c.1382A>C (p.Gln461Pro)
5g.177280590A>GCA362312058NSD1c.4775A>G (p.Gln1592Arg)
c.290A>G (p.Gln97Arg)
n.5231A>G
n.397A>G
c.5339A>G (p.Gln1780Arg)
n.5045A>G
n.5795A>G
n.2567A>G
c.5648A>G (p.Gln1883Arg)
c.4841A>G (p.Gln1614Arg)
c.1142A>G (p.Gln381Arg)
c.5228A>G (p.Gln1743Arg)
c.4592A>G (p.Gln1531Arg)
c.1382A>G (p.Gln461Arg)
5g.177280590A>TCA362312043NSD1c.4775A>T (p.Gln1592Leu)
c.290A>T (p.Gln97Leu)
n.5231A>T
n.397A>T
c.5339A>T (p.Gln1780Leu)
n.5045A>T
n.5795A>T
n.2567A>T
c.5648A>T (p.Gln1883Leu)
c.4841A>T (p.Gln1614Leu)
c.1142A>T (p.Gln381Leu)
c.5228A>T (p.Gln1743Leu)
c.4592A>T (p.Gln1531Leu)
c.1382A>T (p.Gln461Leu)
5g.177280591G>ACA447961226NSD1c.4776G>A (p.Gln1592=)
c.291G>A (p.Gln97=)
n.5232G>A
n.398G>A
c.5340G>A (p.Gln1780=)
n.5046G>A
n.5796G>A
n.2568G>A
c.5649G>A (p.Gln1883=)
c.4842G>A (p.Gln1614=)
c.1143G>A (p.Gln381=)
c.5229G>A (p.Gln1743=)
c.4593G>A (p.Gln1531=)
c.1383G>A (p.Gln461=)
5g.177280591G>CCA362312063NSD1c.4776G>C (p.Gln1592His)
c.291G>C (p.Gln97His)
n.5232G>C
n.398G>C
c.5340G>C (p.Gln1780His)
n.5046G>C
n.5796G>C
n.2568G>C
c.5649G>C (p.Gln1883His)
c.4842G>C (p.Gln1614His)
c.1143G>C (p.Gln381His)
c.5229G>C (p.Gln1743His)
c.4593G>C (p.Gln1531His)
c.1383G>C (p.Gln461His)
5g.177280591G>TCA362312066NSD1c.4776G>T (p.Gln1592His)
c.291G>T (p.Gln97His)
n.5232G>T
n.398G>T
c.5340G>T (p.Gln1780His)
n.5046G>T
n.5796G>T
n.2568G>T
c.5649G>T (p.Gln1883His)
c.4842G>T (p.Gln1614His)
c.1143G>T (p.Gln381His)
c.5229G>T (p.Gln1743His)
c.4593G>T (p.Gln1531His)
c.1383G>T (p.Gln461His)
5g.177280592A>CCA362312068NSD1c.4777A>C (p.Ile1593Leu)
c.292A>C (p.Ile98Leu)
n.5233A>C
n.399A>C
c.5341A>C (p.Ile1781Leu)
n.5047A>C
n.5797A>C
n.2569A>C
c.5650A>C (p.Ile1884Leu)
c.4843A>C (p.Ile1615Leu)
c.1144A>C (p.Ile382Leu)
c.5230A>C (p.Ile1744Leu)
c.4594A>C (p.Ile1532Leu)
c.1384A>C (p.Ile462Leu)
5g.177280592A>GCA362312070NSD1c.4777A>G (p.Ile1593Val)
c.292A>G (p.Ile98Val)
n.5233A>G
n.399A>G
c.5341A>G (p.Ile1781Val)
n.5047A>G
n.5797A>G
n.2569A>G
c.5650A>G (p.Ile1884Val)
c.4843A>G (p.Ile1615Val)
c.1144A>G (p.Ile382Val)
c.5230A>G (p.Ile1744Val)
c.4594A>G (p.Ile1532Val)
c.1384A>G (p.Ile462Val)
5g.177280592A>TCA362312073NSD1c.4777A>T (p.Ile1593Phe)
c.292A>T (p.Ile98Phe)
n.5233A>T
n.399A>T
c.5341A>T (p.Ile1781Phe)
n.5047A>T
n.5797A>T
n.2569A>T
c.5650A>T (p.Ile1884Phe)
c.4843A>T (p.Ile1615Phe)
c.1144A>T (p.Ile382Phe)
c.5230A>T (p.Ile1744Phe)
c.4594A>T (p.Ile1532Phe)
c.1384A>T (p.Ile462Phe)
5g.177280593T>ACA362312081NSD1c.4778T>A (p.Ile1593Asn)
c.293T>A (p.Ile98Asn)
n.5234T>A
n.400T>A
c.5342T>A (p.Ile1781Asn)
n.5048T>A
n.5798T>A
n.2570T>A
c.5651T>A (p.Ile1884Asn)
c.4844T>A (p.Ile1615Asn)
c.1145T>A (p.Ile382Asn)
c.5231T>A (p.Ile1744Asn)
c.4595T>A (p.Ile1532Asn)
c.1385T>A (p.Ile462Asn)
 ClinVar
5g.177280593T>CCA362312085NSD1c.4778T>C (p.Ile1593Thr)
c.293T>C (p.Ile98Thr)
n.5234T>C
n.400T>C
c.5342T>C (p.Ile1781Thr)
n.5048T>C
n.5798T>C
n.2570T>C
c.5651T>C (p.Ile1884Thr)
c.4844T>C (p.Ile1615Thr)
c.1145T>C (p.Ile382Thr)
c.5231T>C (p.Ile1744Thr)
c.4595T>C (p.Ile1532Thr)
c.1385T>C (p.Ile462Thr)
5g.177280593T>GCA362312086NSD1c.4778T>G (p.Ile1593Ser)
c.293T>G (p.Ile98Ser)
n.5234T>G
n.400T>G
c.5342T>G (p.Ile1781Ser)
n.5048T>G
n.5798T>G
n.2570T>G
c.5651T>G (p.Ile1884Ser)
c.4844T>G (p.Ile1615Ser)
c.1145T>G (p.Ile382Ser)
c.5231T>G (p.Ile1744Ser)
c.4595T>G (p.Ile1532Ser)
c.1385T>G (p.Ile462Ser)
5g.177280594C>ACA447961227NSD1c.4779C>A (p.Ile1593=)
c.294C>A (p.Ile98=)
n.5235C>A
n.401C>A
c.5343C>A (p.Ile1781=)
n.5049C>A
n.5799C>A
n.2571C>A
c.5652C>A (p.Ile1884=)
c.4845C>A (p.Ile1615=)
c.1146C>A (p.Ile382=)
c.5232C>A (p.Ile1744=)
c.4596C>A (p.Ile1532=)
c.1386C>A (p.Ile462=)
5g.177280594C>GCA362312088NSD1c.4779C>G (p.Ile1593Met)
c.294C>G (p.Ile98Met)
n.5235C>G
n.401C>G
c.5343C>G (p.Ile1781Met)
n.5049C>G
n.5799C>G
n.2571C>G
c.5652C>G (p.Ile1884Met)
c.4845C>G (p.Ile1615Met)
c.1146C>G (p.Ile382Met)
c.5232C>G (p.Ile1744Met)
c.4596C>G (p.Ile1532Met)
c.1386C>G (p.Ile462Met)
5g.177280594C>TCA447961228NSD1c.4779C>T (p.Ile1593=)
c.294C>T (p.Ile98=)
n.5235C>T
n.401C>T
c.5343C>T (p.Ile1781=)
n.5049C>T
n.5799C>T
n.2571C>T
c.5652C>T (p.Ile1884=)
c.4845C>T (p.Ile1615=)
c.1146C>T (p.Ile382=)
c.5232C>T (p.Ile1744=)
c.4596C>T (p.Ile1532=)
c.1386C>T (p.Ile462=)
5g.177280595T>ACA362312091NSD1c.4780T>A (p.Phe1594Ile)
c.295T>A (p.Phe99Ile)
n.5236T>A
n.402T>A
c.5344T>A (p.Phe1782Ile)
n.5050T>A
n.5800T>A
n.2572T>A
c.5653T>A (p.Phe1885Ile)
c.4846T>A (p.Phe1616Ile)
c.1147T>A (p.Phe383Ile)
c.5233T>A (p.Phe1745Ile)
c.4597T>A (p.Phe1533Ile)
c.1387T>A (p.Phe463Ile)
5g.177280595T>CCA362312097NSD1c.4780T>C (p.Phe1594Leu)
c.295T>C (p.Phe99Leu)
n.5236T>C
n.402T>C
c.5344T>C (p.Phe1782Leu)
n.5050T>C
n.5800T>C
n.2572T>C
c.5653T>C (p.Phe1885Leu)
c.4846T>C (p.Phe1616Leu)
c.1147T>C (p.Phe383Leu)
c.5233T>C (p.Phe1745Leu)
c.4597T>C (p.Phe1533Leu)
c.1387T>C (p.Phe463Leu)
5g.177280595T>GCA362312099NSD1c.4780T>G (p.Phe1594Val)
c.295T>G (p.Phe99Val)
n.5236T>G
n.402T>G
c.5344T>G (p.Phe1782Val)
n.5050T>G
n.5800T>G
n.2572T>G
c.5653T>G (p.Phe1885Val)
c.4846T>G (p.Phe1616Val)
c.1147T>G (p.Phe383Val)
c.5233T>G (p.Phe1745Val)
c.4597T>G (p.Phe1533Val)
c.1387T>G (p.Phe463Val)
5g.177280596T>ACA362312109NSD1c.4781T>A (p.Phe1594Tyr)
c.296T>A (p.Phe99Tyr)
n.5237T>A
n.403T>A
c.5345T>A (p.Phe1782Tyr)
n.5051T>A
n.5801T>A
n.2573T>A
c.5654T>A (p.Phe1885Tyr)
c.4847T>A (p.Phe1616Tyr)
c.1148T>A (p.Phe383Tyr)
c.5234T>A (p.Phe1745Tyr)
c.4598T>A (p.Phe1533Tyr)
c.1388T>A (p.Phe463Tyr)
5g.177280596T>CCA362312107NSD1c.4781T>C (p.Phe1594Ser)
c.296T>C (p.Phe99Ser)
n.5237T>C
n.403T>C
c.5345T>C (p.Phe1782Ser)
n.5051T>C
n.5801T>C
n.2573T>C
c.5654T>C (p.Phe1885Ser)
c.4847T>C (p.Phe1616Ser)
c.1148T>C (p.Phe383Ser)
c.5234T>C (p.Phe1745Ser)
c.4598T>C (p.Phe1533Ser)
c.1388T>C (p.Phe463Ser)
5g.177280596T>GCA362312106NSD1c.4781T>G (p.Phe1594Cys)
c.296T>G (p.Phe99Cys)
n.5237T>G
n.403T>G
c.5345T>G (p.Phe1782Cys)
n.5051T>G
n.5801T>G
n.2573T>G
c.5654T>G (p.Phe1885Cys)
c.4847T>G (p.Phe1616Cys)
c.1148T>G (p.Phe383Cys)
c.5234T>G (p.Phe1745Cys)
c.4598T>G (p.Phe1533Cys)
c.1388T>G (p.Phe463Cys)
5g.177280597C>ACA362312110NSD1c.4782C>A (p.Phe1594Leu)
c.297C>A (p.Phe99Leu)
n.5238C>A
n.404C>A
c.5346C>A (p.Phe1782Leu)
n.5052C>A
n.5802C>A
n.2574C>A
c.5655C>A (p.Phe1885Leu)
c.4848C>A (p.Phe1616Leu)
c.1149C>A (p.Phe383Leu)
c.5235C>A (p.Phe1745Leu)
c.4599C>A (p.Phe1533Leu)
c.1389C>A (p.Phe463Leu)
5g.177280597C=CA1603550271NSD1c.4782C= (p.Phe1594=)
c.297C= (p.Phe99=)
n.5238C=
n.404C=
c.5346C= (p.Phe1782=)
n.5052C=
n.5802C=
n.2574C=
c.5655C= (p.Phe1885=)
c.4848C= (p.Phe1616=)
c.1149C= (p.Phe383=)
c.5235C= (p.Phe1745=)
c.4599C= (p.Phe1533=)
c.1389C= (p.Phe463=)
5g.177280597C>GCA362312112NSD1c.4782C>G (p.Phe1594Leu)
c.297C>G (p.Phe99Leu)
n.5238C>G
n.404C>G
c.5346C>G (p.Phe1782Leu)
n.5052C>G
n.5802C>G
n.2574C>G
c.5655C>G (p.Phe1885Leu)
c.4848C>G (p.Phe1616Leu)
c.1149C>G (p.Phe383Leu)
c.5235C>G (p.Phe1745Leu)
c.4599C>G (p.Phe1533Leu)
c.1389C>G (p.Phe463Leu)
5g.177280597C>TCA447961232NSD1c.4782C>T (p.Phe1594=)
c.297C>T (p.Phe99=)
n.5238C>T
n.404C>T
c.5346C>T (p.Phe1782=)
n.5052C>T
n.5802C>T
n.2574C>T
c.5655C>T (p.Phe1885=)
c.4848C>T (p.Phe1616=)
c.1149C>T (p.Phe383=)
c.5235C>T (p.Phe1745=)
c.4599C>T (p.Phe1533=)
c.1389C>T (p.Phe463=)
 dbSNP gnomAD v3 gnomAD v4
5g.177280598A=CA1603550273NSD1c.4783A= (p.Thr1595=)
c.298A= (p.Thr100=)
n.5239A=
n.405A=
c.5347A= (p.Thr1783=)
n.5053A=
n.5803A=
n.2575A=
c.5656A= (p.Thr1886=)
c.4849A= (p.Thr1617=)
c.1150A= (p.Thr384=)
c.5236A= (p.Thr1746=)
c.4600A= (p.Thr1534=)
c.1390A= (p.Thr464=)
5g.177280598A>CCA362312124NSD1c.4783A>C (p.Thr1595Pro)
c.298A>C (p.Thr100Pro)
n.5239A>C
n.405A>C
c.5347A>C (p.Thr1783Pro)
n.5053A>C
n.5803A>C
n.2575A>C
c.5656A>C (p.Thr1886Pro)
c.4849A>C (p.Thr1617Pro)
c.1150A>C (p.Thr384Pro)
c.5236A>C (p.Thr1746Pro)
c.4600A>C (p.Thr1534Pro)
c.1390A>C (p.Thr464Pro)
5g.177280598A>GCA362312126NSD1c.4783A>G (p.Thr1595Ala)
c.298A>G (p.Thr100Ala)
n.5239A>G
n.405A>G
c.5347A>G (p.Thr1783Ala)
n.5053A>G
n.5803A>G
n.2575A>G
c.5656A>G (p.Thr1886Ala)
c.4849A>G (p.Thr1617Ala)
c.1150A>G (p.Thr384Ala)
c.5236A>G (p.Thr1746Ala)
c.4600A>G (p.Thr1534Ala)
c.1390A>G (p.Thr464Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.177280598A>TCA362312127NSD1c.4783A>T (p.Thr1595Ser)
c.298A>T (p.Thr100Ser)
n.5239A>T
n.405A>T
c.5347A>T (p.Thr1783Ser)
n.5053A>T
n.5803A>T
n.2575A>T
c.5656A>T (p.Thr1886Ser)
c.4849A>T (p.Thr1617Ser)
c.1150A>T (p.Thr384Ser)
c.5236A>T (p.Thr1746Ser)
c.4600A>T (p.Thr1534Ser)
c.1390A>T (p.Thr464Ser)
 dbSNP gnomAD v4
5g.177280599C>ACA362312131NSD1c.4784C>A (p.Thr1595Asn)
c.299C>A (p.Thr100Asn)
n.5240C>A
n.406C>A
c.5348C>A (p.Thr1783Asn)
n.5054C>A
n.5804C>A
n.2576C>A
c.5657C>A (p.Thr1886Asn)
c.4850C>A (p.Thr1617Asn)
c.1151C>A (p.Thr384Asn)
c.5237C>A (p.Thr1746Asn)
c.4601C>A (p.Thr1534Asn)
c.1391C>A (p.Thr464Asn)
5g.177280599C=CA1603550274NSD1c.4784C= (p.Thr1595=)
c.299C= (p.Thr100=)
n.5240C=
n.406C=
c.5348C= (p.Thr1783=)
n.5054C=
n.5804C=
n.2576C=
c.5657C= (p.Thr1886=)
c.4850C= (p.Thr1617=)
c.1151C= (p.Thr384=)
c.5237C= (p.Thr1746=)
c.4601C= (p.Thr1534=)
c.1391C= (p.Thr464=)
5g.177280599C>GCA3577884NSD1c.4784C>G (p.Thr1595Ser)
c.299C>G (p.Thr100Ser)
n.5240C>G
n.406C>G
c.5348C>G (p.Thr1783Ser)
n.5054C>G
n.5804C>G
n.2576C>G
c.5657C>G (p.Thr1886Ser)
c.4850C>G (p.Thr1617Ser)
c.1151C>G (p.Thr384Ser)
c.5237C>G (p.Thr1746Ser)
c.4601C>G (p.Thr1534Ser)
c.1391C>G (p.Thr464Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280599C>TCA362312141NSD1c.4784C>T (p.Thr1595Ile)
c.299C>T (p.Thr100Ile)
n.5240C>T
n.406C>T
c.5348C>T (p.Thr1783Ile)
n.5054C>T
n.5804C>T
n.2576C>T
c.5657C>T (p.Thr1886Ile)
c.4850C>T (p.Thr1617Ile)
c.1151C>T (p.Thr384Ile)
c.5237C>T (p.Thr1746Ile)
c.4601C>T (p.Thr1534Ile)
c.1391C>T (p.Thr464Ile)
5g.177280600T>ACA447961233NSD1c.4785T>A (p.Thr1595=)
c.300T>A (p.Thr100=)
n.5241T>A
n.407T>A
c.5349T>A (p.Thr1783=)
n.5055T>A
n.5805T>A
n.2577T>A
c.5658T>A (p.Thr1886=)
c.4851T>A (p.Thr1617=)
c.1152T>A (p.Thr384=)
c.5238T>A (p.Thr1746=)
c.4602T>A (p.Thr1534=)
c.1392T>A (p.Thr464=)
5g.177280600T>CCA447961234NSD1c.4785T>C (p.Thr1595=)
c.300T>C (p.Thr100=)
n.5241T>C
n.407T>C
c.5349T>C (p.Thr1783=)
n.5055T>C
n.5805T>C
n.2577T>C
c.5658T>C (p.Thr1886=)
c.4851T>C (p.Thr1617=)
c.1152T>C (p.Thr384=)
c.5238T>C (p.Thr1746=)
c.4602T>C (p.Thr1534=)
c.1392T>C (p.Thr464=)
5g.177280600T>GCA447961235NSD1c.4785T>G (p.Thr1595=)
c.300T>G (p.Thr100=)
n.5241T>G
n.407T>G
c.5349T>G (p.Thr1783=)
n.5055T>G
n.5805T>G
n.2577T>G
c.5658T>G (p.Thr1886=)
c.4851T>G (p.Thr1617=)
c.1152T>G (p.Thr384=)
c.5238T>G (p.Thr1746=)
c.4602T>G (p.Thr1534=)
c.1392T>G (p.Thr464=)
5g.177280601G>ACA362312142NSD1c.4786G>A (p.Ala1596Thr)
c.301G>A (p.Ala101Thr)
n.5242G>A
n.408G>A
c.5350G>A (p.Ala1784Thr)
n.5056G>A
n.5806G>A
n.2578G>A
c.5659G>A (p.Ala1887Thr)
c.4852G>A (p.Ala1618Thr)
c.1153G>A (p.Ala385Thr)
c.5239G>A (p.Ala1747Thr)
c.4603G>A (p.Ala1535Thr)
c.1393G>A (p.Ala465Thr)
 dbSNP
5g.177280601G>CCA362312143NSD1c.4786G>C (p.Ala1596Pro)
c.301G>C (p.Ala101Pro)
n.5242G>C
n.408G>C
c.5350G>C (p.Ala1784Pro)
n.5056G>C
n.5806G>C
n.2578G>C
c.5659G>C (p.Ala1887Pro)
c.4852G>C (p.Ala1618Pro)
c.1153G>C (p.Ala385Pro)
c.5239G>C (p.Ala1747Pro)
c.4603G>C (p.Ala1535Pro)
c.1393G>C (p.Ala465Pro)
5g.177280601G=CA1603550276NSD1c.4786G= (p.Ala1596=)
c.301G= (p.Ala101=)
n.5242G=
n.408G=
c.5350G= (p.Ala1784=)
n.5056G=
n.5806G=
n.2578G=
c.5659G= (p.Ala1887=)
c.4852G= (p.Ala1618=)
c.1153G= (p.Ala385=)
c.5239G= (p.Ala1747=)
c.4603G= (p.Ala1535=)
c.1393G= (p.Ala465=)
5g.177280601G>TCA362312144NSD1c.4786G>T (p.Ala1596Ser)
c.301G>T (p.Ala101Ser)
n.5242G>T
n.408G>T
c.5350G>T (p.Ala1784Ser)
n.5056G>T
n.5806G>T
n.2578G>T
c.5659G>T (p.Ala1887Ser)
c.4852G>T (p.Ala1618Ser)
c.1153G>T (p.Ala385Ser)
c.5239G>T (p.Ala1747Ser)
c.4603G>T (p.Ala1535Ser)
c.1393G>T (p.Ala465Ser)
5g.177280602C>ACA362312148NSD1c.4787C>A (p.Ala1596Glu)
c.302C>A (p.Ala101Glu)
n.5243C>A
n.409C>A
c.5351C>A (p.Ala1784Glu)
n.5057C>A
n.5807C>A
n.2579C>A
c.5660C>A (p.Ala1887Glu)
c.4853C>A (p.Ala1618Glu)
c.1154C>A (p.Ala385Glu)
c.5240C>A (p.Ala1747Glu)
c.4604C>A (p.Ala1535Glu)
c.1394C>A (p.Ala465Glu)
5g.177280602C>GCA362312149NSD1c.4787C>G (p.Ala1596Gly)
c.302C>G (p.Ala101Gly)
n.5243C>G
n.409C>G
c.5351C>G (p.Ala1784Gly)
n.5057C>G
n.5807C>G
n.2579C>G
c.5660C>G (p.Ala1887Gly)
c.4853C>G (p.Ala1618Gly)
c.1154C>G (p.Ala385Gly)
c.5240C>G (p.Ala1747Gly)
c.4604C>G (p.Ala1535Gly)
c.1394C>G (p.Ala465Gly)
5g.177280602C>TCA362312155NSD1c.4787C>T (p.Ala1596Val)
c.302C>T (p.Ala101Val)
n.5243C>T
n.409C>T
c.5351C>T (p.Ala1784Val)
n.5057C>T
n.5807C>T
n.2579C>T
c.5660C>T (p.Ala1887Val)
c.4853C>T (p.Ala1618Val)
c.1154C>T (p.Ala385Val)
c.5240C>T (p.Ala1747Val)
c.4604C>T (p.Ala1535Val)
c.1394C>T (p.Ala465Val)
 dbSNP
5g.177280603A=CA1603550277NSD1c.4788A= (p.Ala1596=)
c.303A= (p.Ala101=)
n.5244A=
n.410A=
c.5352A= (p.Ala1784=)
n.5058A=
n.5808A=
n.2580A=
c.5661A= (p.Ala1887=)
c.4854A= (p.Ala1618=)
c.1155A= (p.Ala385=)
c.5241A= (p.Ala1747=)
c.4605A= (p.Ala1535=)
c.1395A= (p.Ala465=)
5g.177280603A>CCA447961237NSD1c.4788A>C (p.Ala1596=)
c.303A>C (p.Ala101=)
n.5244A>C
n.410A>C
c.5352A>C (p.Ala1784=)
n.5058A>C
n.5808A>C
n.2580A>C
c.5661A>C (p.Ala1887=)
c.4854A>C (p.Ala1618=)
c.1155A>C (p.Ala385=)
c.5241A>C (p.Ala1747=)
c.4605A>C (p.Ala1535=)
c.1395A>C (p.Ala465=)
 dbSNP gnomAD v4
5g.177280603A>GCA447961238NSD1c.4788A>G (p.Ala1596=)
c.303A>G (p.Ala101=)
n.5244A>G
n.410A>G
c.5352A>G (p.Ala1784=)
n.5058A>G
n.5808A>G
n.2580A>G
c.5661A>G (p.Ala1887=)
c.4854A>G (p.Ala1618=)
c.1155A>G (p.Ala385=)
c.5241A>G (p.Ala1747=)
c.4605A>G (p.Ala1535=)
c.1395A>G (p.Ala465=)
5g.177280603A>TCA447961239NSD1c.4788A>T (p.Ala1596=)
c.303A>T (p.Ala101=)
n.5244A>T
n.410A>T
c.5352A>T (p.Ala1784=)
n.5058A>T
n.5808A>T
n.2580A>T
c.5661A>T (p.Ala1887=)
c.4854A>T (p.Ala1618=)
c.1155A>T (p.Ala385=)
c.5241A>T (p.Ala1747=)
c.4605A>T (p.Ala1535=)
c.1395A>T (p.Ala465=)
5g.177280604G>ACA362312162NSD1c.4789G>A (p.Asp1597Asn)
c.304G>A (p.Asp102Asn)
n.5245G>A
n.411G>A
c.5353G>A (p.Asp1785Asn)
n.5059G>A
n.5809G>A
n.2581G>A
c.5662G>A (p.Asp1888Asn)
c.4855G>A (p.Asp1619Asn)
c.1156G>A (p.Asp386Asn)
c.5242G>A (p.Asp1748Asn)
c.4606G>A (p.Asp1536Asn)
c.1396G>A (p.Asp466Asn)
5g.177280604G>CCA362312176NSD1c.4789G>C (p.Asp1597His)
c.304G>C (p.Asp102His)
n.5245G>C
n.411G>C
c.5353G>C (p.Asp1785His)
n.5059G>C
n.5809G>C
n.2581G>C
c.5662G>C (p.Asp1888His)
c.4855G>C (p.Asp1619His)
c.1156G>C (p.Asp386His)
c.5242G>C (p.Asp1748His)
c.4606G>C (p.Asp1536His)
c.1396G>C (p.Asp466His)
 dbSNP
5g.177280604G>TCA362312160NSD1c.4789G>T (p.Asp1597Tyr)
c.304G>T (p.Asp102Tyr)
n.5245G>T
n.411G>T
c.5353G>T (p.Asp1785Tyr)
n.5059G>T
n.5809G>T
n.2581G>T
c.5662G>T (p.Asp1888Tyr)
c.4855G>T (p.Asp1619Tyr)
c.1156G>T (p.Asp386Tyr)
c.5242G>T (p.Asp1748Tyr)
c.4606G>T (p.Asp1536Tyr)
c.1396G>T (p.Asp466Tyr)
5g.177280605A>CCA362312179NSD1c.4790A>C (p.Asp1597Ala)
c.305A>C (p.Asp102Ala)
n.5246A>C
n.412A>C
c.5354A>C (p.Asp1785Ala)
n.5060A>C
n.5810A>C
n.2582A>C
c.5663A>C (p.Asp1888Ala)
c.4856A>C (p.Asp1619Ala)
c.1157A>C (p.Asp386Ala)
c.5243A>C (p.Asp1748Ala)
c.4607A>C (p.Asp1536Ala)
c.1397A>C (p.Asp466Ala)
5g.177280605A>GCA362312192NSD1c.4790A>G (p.Asp1597Gly)
c.305A>G (p.Asp102Gly)
n.5246A>G
n.412A>G
c.5354A>G (p.Asp1785Gly)
n.5060A>G
n.5810A>G
n.2582A>G
c.5663A>G (p.Asp1888Gly)
c.4856A>G (p.Asp1619Gly)
c.1157A>G (p.Asp386Gly)
c.5243A>G (p.Asp1748Gly)
c.4607A>G (p.Asp1536Gly)
c.1397A>G (p.Asp466Gly)
 gnomAD v4
5g.177280605A>TCA362312197NSD1c.4790A>T (p.Asp1597Val)
c.305A>T (p.Asp102Val)
n.5246A>T
n.412A>T
c.5354A>T (p.Asp1785Val)
n.5060A>T
n.5810A>T
n.2582A>T
c.5663A>T (p.Asp1888Val)
c.4856A>T (p.Asp1619Val)
c.1157A>T (p.Asp386Val)
c.5243A>T (p.Asp1748Val)
c.4607A>T (p.Asp1536Val)
c.1397A>T (p.Asp466Val)
5g.177280606C>ACA362312208NSD1c.4791C>A (p.Asp1597Glu)
c.306C>A (p.Asp102Glu)
n.5247C>A
n.413C>A
c.5355C>A (p.Asp1785Glu)
n.5061C>A
n.5811C>A
n.2583C>A
c.5664C>A (p.Asp1888Glu)
c.4857C>A (p.Asp1619Glu)
c.1158C>A (p.Asp386Glu)
c.5244C>A (p.Asp1748Glu)
c.4608C>A (p.Asp1536Glu)
c.1398C>A (p.Asp466Glu)
 dbSNP gnomAD v4
5g.177280606C=CA1603550279NSD1c.4791C= (p.Asp1597=)
c.306C= (p.Asp102=)
n.5247C=
n.413C=
c.5355C= (p.Asp1785=)
n.5061C=
n.5811C=
n.2583C=
c.5664C= (p.Asp1888=)
c.4857C= (p.Asp1619=)
c.1158C= (p.Asp386=)
c.5244C= (p.Asp1748=)
c.4608C= (p.Asp1536=)
c.1398C= (p.Asp466=)
5g.177280606C>GCA362312211NSD1c.4791C>G (p.Asp1597Glu)
c.306C>G (p.Asp102Glu)
n.5247C>G
n.413C>G
c.5355C>G (p.Asp1785Glu)
n.5061C>G
n.5811C>G
n.2583C>G
c.5664C>G (p.Asp1888Glu)
c.4857C>G (p.Asp1619Glu)
c.1158C>G (p.Asp386Glu)
c.5244C>G (p.Asp1748Glu)
c.4608C>G (p.Asp1536Glu)
c.1398C>G (p.Asp466Glu)
5g.177280606C>TCA3577885NSD1c.4791C>T (p.Asp1597=)
c.306C>T (p.Asp102=)
n.5247C>T
n.413C>T
c.5355C>T (p.Asp1785=)
n.5061C>T
n.5811C>T
n.2583C>T
c.5664C>T (p.Asp1888=)
c.4857C>T (p.Asp1619=)
c.1158C>T (p.Asp386=)
c.5244C>T (p.Asp1748=)
c.4608C>T (p.Asp1536=)
c.1398C>T (p.Asp466=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280607T>ACA362312216NSD1c.4792T>A (p.Leu1598Ile)
c.307T>A (p.Leu103Ile)
n.5248T>A
n.414T>A
c.5356T>A (p.Leu1786Ile)
n.5062T>A
n.5812T>A
n.2584T>A
c.5665T>A (p.Leu1889Ile)
c.4858T>A (p.Leu1620Ile)
c.1159T>A (p.Leu387Ile)
c.5245T>A (p.Leu1749Ile)
c.4609T>A (p.Leu1537Ile)
c.1399T>A (p.Leu467Ile)
 dbSNP
5g.177280607T>CCA447961243NSD1c.4792T>C (p.Leu1598=)
c.307T>C (p.Leu103=)
n.5248T>C
n.414T>C
c.5356T>C (p.Leu1786=)
n.5062T>C
n.5812T>C
n.2584T>C
c.5665T>C (p.Leu1889=)
c.4858T>C (p.Leu1620=)
c.1159T>C (p.Leu387=)
c.5245T>C (p.Leu1749=)
c.4609T>C (p.Leu1537=)
c.1399T>C (p.Leu467=)
5g.177280607T>GCA3577886NSD1c.4792T>G (p.Leu1598Val)
c.307T>G (p.Leu103Val)
n.5248T>G
n.414T>G
c.5356T>G (p.Leu1786Val)
n.5062T>G
n.5812T>G
n.2584T>G
c.5665T>G (p.Leu1889Val)
c.4858T>G (p.Leu1620Val)
c.1159T>G (p.Leu387Val)
c.5245T>G (p.Leu1749Val)
c.4609T>G (p.Leu1537Val)
c.1399T>G (p.Leu467Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280607T=CA1603550283NSD1c.4792T= (p.Leu1598=)
c.307T= (p.Leu103=)
n.5248T=
n.414T=
c.5356T= (p.Leu1786=)
n.5062T=
n.5812T=
n.2584T=
c.5665T= (p.Leu1889=)
c.4858T= (p.Leu1620=)
c.1159T= (p.Leu387=)
c.5245T= (p.Leu1749=)
c.4609T= (p.Leu1537=)
c.1399T= (p.Leu467=)
5g.177280608T>ACA362312224NSD1c.4793T>A (p.Leu1598Ter)
c.308T>A (p.Leu103Ter)
n.5249T>A
n.415T>A
c.5357T>A (p.Leu1786Ter)
n.5063T>A
n.5813T>A
n.2585T>A
c.5666T>A (p.Leu1889Ter)
c.4859T>A (p.Leu1620Ter)
c.1160T>A (p.Leu387Ter)
c.5246T>A (p.Leu1749Ter)
c.4610T>A (p.Leu1537Ter)
c.1400T>A (p.Leu467Ter)
5g.177280608T>CCA362312225NSD1c.4793T>C (p.Leu1598Ser)
c.308T>C (p.Leu103Ser)
n.5249T>C
n.415T>C
c.5357T>C (p.Leu1786Ser)
n.5063T>C
n.5813T>C
n.2585T>C
c.5666T>C (p.Leu1889Ser)
c.4859T>C (p.Leu1620Ser)
c.1160T>C (p.Leu387Ser)
c.5246T>C (p.Leu1749Ser)
c.4610T>C (p.Leu1537Ser)
c.1400T>C (p.Leu467Ser)
5g.177280608T>GCA362312228NSD1c.4793T>G (p.Leu1598Ter)
c.308T>G (p.Leu103Ter)
n.5249T>G
n.415T>G
c.5357T>G (p.Leu1786Ter)
n.5063T>G
n.5813T>G
n.2585T>G
c.5666T>G (p.Leu1889Ter)
c.4859T>G (p.Leu1620Ter)
c.1160T>G (p.Leu387Ter)
c.5246T>G (p.Leu1749Ter)
c.4610T>G (p.Leu1537Ter)
c.1400T>G (p.Leu467Ter)
5g.177280609A=CA1603550288NSD1c.4794A= (p.Leu1598=)
c.309A= (p.Leu103=)
n.5250A=
n.416A=
c.5358A= (p.Leu1786=)
n.5064A=
n.5814A=
n.2586A=
c.5667A= (p.Leu1889=)
c.4860A= (p.Leu1620=)
c.1161A= (p.Leu387=)
c.5247A= (p.Leu1749=)
c.4611A= (p.Leu1537=)
c.1401A= (p.Leu467=)
5g.177280609A>CCA362312230NSD1c.4794A>C (p.Leu1598Phe)
c.309A>C (p.Leu103Phe)
n.5250A>C
n.416A>C
c.5358A>C (p.Leu1786Phe)
n.5064A>C
n.5814A>C
n.2586A>C
c.5667A>C (p.Leu1889Phe)
c.4860A>C (p.Leu1620Phe)
c.1161A>C (p.Leu387Phe)
c.5247A>C (p.Leu1749Phe)
c.4611A>C (p.Leu1537Phe)
c.1401A>C (p.Leu467Phe)
5g.177280609A>GCA447961244NSD1c.4794A>G (p.Leu1598=)
c.309A>G (p.Leu103=)
n.5250A>G
n.416A>G
c.5358A>G (p.Leu1786=)
n.5064A>G
n.5814A>G
n.2586A>G
c.5667A>G (p.Leu1889=)
c.4860A>G (p.Leu1620=)
c.1161A>G (p.Leu387=)
c.5247A>G (p.Leu1749=)
c.4611A>G (p.Leu1537=)
c.1401A>G (p.Leu467=)
 dbSNP gnomAD v3 gnomAD v4
5g.177280609A>TCA362312233NSD1c.4794A>T (p.Leu1598Phe)
c.309A>T (p.Leu103Phe)
n.5250A>T
n.416A>T
c.5358A>T (p.Leu1786Phe)
n.5064A>T
n.5814A>T
n.2586A>T
c.5667A>T (p.Leu1889Phe)
c.4860A>T (p.Leu1620Phe)
c.1161A>T (p.Leu387Phe)
c.5247A>T (p.Leu1749Phe)
c.4611A>T (p.Leu1537Phe)
c.1401A>T (p.Leu467Phe)
5g.177280610T>ACA362312241NSD1c.4795T>A (p.Ser1599Thr)
c.310T>A (p.Ser104Thr)
n.5251T>A
n.417T>A
c.5359T>A (p.Ser1787Thr)
n.5065T>A
n.5815T>A
n.2587T>A
c.5668T>A (p.Ser1890Thr)
c.4861T>A (p.Ser1621Thr)
c.1162T>A (p.Ser388Thr)
c.5248T>A (p.Ser1750Thr)
c.4612T>A (p.Ser1538Thr)
c.1402T>A (p.Ser468Thr)
5g.177280610T>CCA132847166NSD1c.4795T>C (p.Ser1599Pro)
c.310T>C (p.Ser104Pro)
n.5251T>C
n.417T>C
c.5359T>C (p.Ser1787Pro)
n.5065T>C
n.5815T>C
n.2587T>C
c.5668T>C (p.Ser1890Pro)
c.4861T>C (p.Ser1621Pro)
c.1162T>C (p.Ser388Pro)
c.5248T>C (p.Ser1750Pro)
c.4612T>C (p.Ser1538Pro)
c.1402T>C (p.Ser468Pro)
 dbSNP gnomAD v4
5g.177280610T>GCA362312240NSD1c.4795T>G (p.Ser1599Ala)
c.310T>G (p.Ser104Ala)
n.5251T>G
n.417T>G
c.5359T>G (p.Ser1787Ala)
n.5065T>G
n.5815T>G
n.2587T>G
c.5668T>G (p.Ser1890Ala)
c.4861T>G (p.Ser1621Ala)
c.1162T>G (p.Ser388Ala)
c.5248T>G (p.Ser1750Ala)
c.4612T>G (p.Ser1538Ala)
c.1402T>G (p.Ser468Ala)
5g.177280610T=CA1603550292NSD1c.4795T= (p.Ser1599=)
c.310T= (p.Ser104=)
n.5251T=
n.417T=
c.5359T= (p.Ser1787=)
n.5065T=
n.5815T=
n.2587T=
c.5668T= (p.Ser1890=)
c.4861T= (p.Ser1621=)
c.1162T= (p.Ser388=)
c.5248T= (p.Ser1750=)
c.4612T= (p.Ser1538=)
c.1402T= (p.Ser468=)
5g.177280611C>ACA362312242NSD1c.4796C>A (p.Ser1599Tyr)
c.311C>A (p.Ser104Tyr)
n.5252C>A
n.418C>A
c.5360C>A (p.Ser1787Tyr)
n.5066C>A
n.5816C>A
n.2588C>A
c.5669C>A (p.Ser1890Tyr)
c.4862C>A (p.Ser1621Tyr)
c.1163C>A (p.Ser388Tyr)
c.5249C>A (p.Ser1750Tyr)
c.4613C>A (p.Ser1538Tyr)
c.1403C>A (p.Ser468Tyr)
 dbSNP
5g.177280611C>GCA362312244NSD1c.4796C>G (p.Ser1599Cys)
c.311C>G (p.Ser104Cys)
n.5252C>G
n.418C>G
c.5360C>G (p.Ser1787Cys)
n.5066C>G
n.5816C>G
n.2588C>G
c.5669C>G (p.Ser1890Cys)
c.4862C>G (p.Ser1621Cys)
c.1163C>G (p.Ser388Cys)
c.5249C>G (p.Ser1750Cys)
c.4613C>G (p.Ser1538Cys)
c.1403C>G (p.Ser468Cys)
5g.177280611C>TCA362312247NSD1c.4796C>T (p.Ser1599Phe)
c.311C>T (p.Ser104Phe)
n.5252C>T
n.418C>T
c.5360C>T (p.Ser1787Phe)
n.5066C>T
n.5816C>T
n.2588C>T
c.5669C>T (p.Ser1890Phe)
c.4862C>T (p.Ser1621Phe)
c.1163C>T (p.Ser388Phe)
c.5249C>T (p.Ser1750Phe)
c.4613C>T (p.Ser1538Phe)
c.1403C>T (p.Ser468Phe)
5g.177280612T>ACA447961246NSD1c.4797T>A (p.Ser1599=)
c.312T>A (p.Ser104=)
n.5253T>A
n.419T>A
c.5361T>A (p.Ser1787=)
n.5067T>A
n.5817T>A
n.2589T>A
c.5670T>A (p.Ser1890=)
c.4863T>A (p.Ser1621=)
c.1164T>A (p.Ser388=)
c.5250T>A (p.Ser1750=)
c.4614T>A (p.Ser1538=)
c.1404T>A (p.Ser468=)
5g.177280612T>CCA447961247NSD1c.4797T>C (p.Ser1599=)
c.312T>C (p.Ser104=)
n.5253T>C
n.419T>C
c.5361T>C (p.Ser1787=)
n.5067T>C
n.5817T>C
n.2589T>C
c.5670T>C (p.Ser1890=)
c.4863T>C (p.Ser1621=)
c.1164T>C (p.Ser388=)
c.5250T>C (p.Ser1750=)
c.4614T>C (p.Ser1538=)
c.1404T>C (p.Ser468=)
 dbSNP gnomAD v3 gnomAD v4
5g.177280612T>GCA447961249NSD1c.4797T>G (p.Ser1599=)
c.312T>G (p.Ser104=)
n.5253T>G
n.419T>G
c.5361T>G (p.Ser1787=)
n.5067T>G
n.5817T>G
n.2589T>G
c.5670T>G (p.Ser1890=)
c.4863T>G (p.Ser1621=)
c.1164T>G (p.Ser388=)
c.5250T>G (p.Ser1750=)
c.4614T>G (p.Ser1538=)
c.1404T>G (p.Ser468=)
5g.177280612T=CA1603550293NSD1c.4797T= (p.Ser1599=)
c.312T= (p.Ser104=)
n.5253T=
n.419T=
c.5361T= (p.Ser1787=)
n.5067T=
n.5817T=
n.2589T=
c.5670T= (p.Ser1890=)
c.4863T= (p.Ser1621=)
c.1164T= (p.Ser388=)
c.5250T= (p.Ser1750=)
c.4614T= (p.Ser1538=)
c.1404T= (p.Ser468=)
5g.177280613G>ACA362312252NSD1c.4798G>A (p.Glu1600Lys)
c.313G>A (p.Glu105Lys)
n.5254G>A
n.420G>A
c.5362G>A (p.Glu1788Lys)
n.5068G>A
n.5818G>A
n.2590G>A
c.5671G>A (p.Glu1891Lys)
c.4864G>A (p.Glu1622Lys)
c.1165G>A (p.Glu389Lys)
c.5251G>A (p.Glu1751Lys)
c.4615G>A (p.Glu1539Lys)
c.1405G>A (p.Glu469Lys)
 dbSNP
5g.177280613G>CCA362312254NSD1c.4798G>C (p.Glu1600Gln)
c.313G>C (p.Glu105Gln)
n.5254G>C
n.420G>C
c.5362G>C (p.Glu1788Gln)
n.5068G>C
n.5818G>C
n.2590G>C
c.5671G>C (p.Glu1891Gln)
c.4864G>C (p.Glu1622Gln)
c.1165G>C (p.Glu389Gln)
c.5251G>C (p.Glu1751Gln)
c.4615G>C (p.Glu1539Gln)
c.1405G>C (p.Glu469Gln)
5g.177280613G>TCA362312256NSD1c.4798G>T (p.Glu1600Ter)
c.313G>T (p.Glu105Ter)
n.5254G>T
n.420G>T
c.5362G>T (p.Glu1788Ter)
n.5068G>T
n.5818G>T
n.2590G>T
c.5671G>T (p.Glu1891Ter)
c.4864G>T (p.Glu1622Ter)
c.1165G>T (p.Glu389Ter)
c.5251G>T (p.Glu1751Ter)
c.4615G>T (p.Glu1539Ter)
c.1405G>T (p.Glu469Ter)
 COSMIC COSMIC
5g.177280614A>CCA362312258NSD1c.4799A>C (p.Glu1600Ala)
c.314A>C (p.Glu105Ala)
n.5255A>C
n.421A>C
c.5363A>C (p.Glu1788Ala)
n.5069A>C
n.5819A>C
n.2591A>C
c.5672A>C (p.Glu1891Ala)
c.4865A>C (p.Glu1622Ala)
c.1166A>C (p.Glu389Ala)
c.5252A>C (p.Glu1751Ala)
c.4616A>C (p.Glu1539Ala)
c.1406A>C (p.Glu469Ala)
5g.177280614A>GCA362312261NSD1c.4799A>G (p.Glu1600Gly)
c.314A>G (p.Glu105Gly)
n.5255A>G
n.421A>G
c.5363A>G (p.Glu1788Gly)
n.5069A>G
n.5819A>G
n.2591A>G
c.5672A>G (p.Glu1891Gly)
c.4865A>G (p.Glu1622Gly)
c.1166A>G (p.Glu389Gly)
c.5252A>G (p.Glu1751Gly)
c.4616A>G (p.Glu1539Gly)
c.1406A>G (p.Glu469Gly)
5g.177280614A>TCA362312263NSD1c.4799A>T (p.Glu1600Val)
c.314A>T (p.Glu105Val)
n.5255A>T
n.421A>T
c.5363A>T (p.Glu1788Val)
n.5069A>T
n.5819A>T
n.2591A>T
c.5672A>T (p.Glu1891Val)
c.4865A>T (p.Glu1622Val)
c.1166A>T (p.Glu389Val)
c.5252A>T (p.Glu1751Val)
c.4616A>T (p.Glu1539Val)
c.1406A>T (p.Glu469Val)
5g.177280615A>CCA362312267NSD1c.4800A>C (p.Glu1600Asp)
c.315A>C (p.Glu105Asp)
n.5256A>C
n.422A>C
c.5364A>C (p.Glu1788Asp)
n.5070A>C
n.5820A>C
n.2592A>C
c.5673A>C (p.Glu1891Asp)
c.4866A>C (p.Glu1622Asp)
c.1167A>C (p.Glu389Asp)
c.5253A>C (p.Glu1751Asp)
c.4617A>C (p.Glu1539Asp)
c.1407A>C (p.Glu469Asp)
5g.177280615A>GCA447961251NSD1c.4800A>G (p.Glu1600=)
c.315A>G (p.Glu105=)
n.5256A>G
n.422A>G
c.5364A>G (p.Glu1788=)
n.5070A>G
n.5820A>G
n.2592A>G
c.5673A>G (p.Glu1891=)
c.4866A>G (p.Glu1622=)
c.1167A>G (p.Glu389=)
c.5253A>G (p.Glu1751=)
c.4617A>G (p.Glu1539=)
c.1407A>G (p.Glu469=)
5g.177280615A>TCA362312270NSD1c.4800A>T (p.Glu1600Asp)
c.315A>T (p.Glu105Asp)
n.5256A>T
n.422A>T
c.5364A>T (p.Glu1788Asp)
n.5070A>T
n.5820A>T
n.2592A>T
c.5673A>T (p.Glu1891Asp)
c.4866A>T (p.Glu1622Asp)
c.1167A>T (p.Glu389Asp)
c.5253A>T (p.Glu1751Asp)
c.4617A>T (p.Glu1539Asp)
c.1407A>T (p.Glu469Asp)
5g.177280616A=CA1603550295NSD1c.4801A= (p.Ile1601=)
c.316A= (p.Ile106=)
n.5257A=
n.423A=
c.5365A= (p.Ile1789=)
n.5071A=
n.5821A=
n.2593A=
c.5674A= (p.Ile1892=)
c.4867A= (p.Ile1623=)
c.1168A= (p.Ile390=)
c.5254A= (p.Ile1752=)
c.4618A= (p.Ile1540=)
c.1408A= (p.Ile470=)
5g.177280616A>CCA362312274NSD1c.4801A>C (p.Ile1601Leu)
c.316A>C (p.Ile106Leu)
n.5257A>C
n.423A>C
c.5365A>C (p.Ile1789Leu)
n.5071A>C
n.5821A>C
n.2593A>C
c.5674A>C (p.Ile1892Leu)
c.4867A>C (p.Ile1623Leu)
c.1168A>C (p.Ile390Leu)
c.5254A>C (p.Ile1752Leu)
c.4618A>C (p.Ile1540Leu)
c.1408A>C (p.Ile470Leu)
5g.177280616A>GCA3577887NSD1c.4801A>G (p.Ile1601Val)
c.316A>G (p.Ile106Val)
n.5257A>G
n.423A>G
c.5365A>G (p.Ile1789Val)
n.5071A>G
n.5821A>G
n.2593A>G
c.5674A>G (p.Ile1892Val)
c.4867A>G (p.Ile1623Val)
c.1168A>G (p.Ile390Val)
c.5254A>G (p.Ile1752Val)
c.4618A>G (p.Ile1540Val)
c.1408A>G (p.Ile470Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280616A>TCA362312271NSD1c.4801A>T (p.Ile1601Leu)
c.316A>T (p.Ile106Leu)
n.5257A>T
n.423A>T
c.5365A>T (p.Ile1789Leu)
n.5071A>T
n.5821A>T
n.2593A>T
c.5674A>T (p.Ile1892Leu)
c.4867A>T (p.Ile1623Leu)
c.1168A>T (p.Ile390Leu)
c.5254A>T (p.Ile1752Leu)
c.4618A>T (p.Ile1540Leu)
c.1408A>T (p.Ile470Leu)
5g.177280617T>ACA362312278NSD1c.4802T>A (p.Ile1601Lys)
c.317T>A (p.Ile106Lys)
n.5258T>A
n.424T>A
c.5366T>A (p.Ile1789Lys)
n.5072T>A
n.5822T>A
n.2594T>A
c.5675T>A (p.Ile1892Lys)
c.4868T>A (p.Ile1623Lys)
c.1169T>A (p.Ile390Lys)
c.5255T>A (p.Ile1752Lys)
c.4619T>A (p.Ile1540Lys)
c.1409T>A (p.Ile470Lys)
5g.177280617T>CCA362312291NSD1c.4802T>C (p.Ile1601Thr)
c.317T>C (p.Ile106Thr)
n.5258T>C
n.424T>C
c.5366T>C (p.Ile1789Thr)
n.5072T>C
n.5822T>C
n.2594T>C
c.5675T>C (p.Ile1892Thr)
c.4868T>C (p.Ile1623Thr)
c.1169T>C (p.Ile390Thr)
c.5255T>C (p.Ile1752Thr)
c.4619T>C (p.Ile1540Thr)
c.1409T>C (p.Ile470Thr)
5g.177280617T>GCA362312284NSD1c.4802T>G (p.Ile1601Arg)
c.317T>G (p.Ile106Arg)
n.5258T>G
n.424T>G
c.5366T>G (p.Ile1789Arg)
n.5072T>G
n.5822T>G
n.2594T>G
c.5675T>G (p.Ile1892Arg)
c.4868T>G (p.Ile1623Arg)
c.1169T>G (p.Ile390Arg)
c.5255T>G (p.Ile1752Arg)
c.4619T>G (p.Ile1540Arg)
c.1409T>G (p.Ile470Arg)
5g.177280618A=CA1603550298NSD1c.4803A= (p.Ile1601=)
c.318A= (p.Ile106=)
n.5259A=
n.425A=
c.5367A= (p.Ile1789=)
n.5073A=
n.5823A=
n.2595A=
c.5676A= (p.Ile1892=)
c.4869A= (p.Ile1623=)
c.1170A= (p.Ile390=)
c.5256A= (p.Ile1752=)
c.4620A= (p.Ile1540=)
c.1410A= (p.Ile470=)
5g.177280618A>CCA447961255NSD1c.4803A>C (p.Ile1601=)
c.318A>C (p.Ile106=)
n.5259A>C
n.425A>C
c.5367A>C (p.Ile1789=)
n.5073A>C
n.5823A>C
n.2595A>C
c.5676A>C (p.Ile1892=)
c.4869A>C (p.Ile1623=)
c.1170A>C (p.Ile390=)
c.5256A>C (p.Ile1752=)
c.4620A>C (p.Ile1540=)
c.1410A>C (p.Ile470=)
5g.177280618A>GCA362312293NSD1c.4803A>G (p.Ile1601Met)
c.318A>G (p.Ile106Met)
n.5259A>G
n.425A>G
c.5367A>G (p.Ile1789Met)
n.5073A>G
n.5823A>G
n.2595A>G
c.5676A>G (p.Ile1892Met)
c.4869A>G (p.Ile1623Met)
c.1170A>G (p.Ile390Met)
c.5256A>G (p.Ile1752Met)
c.4620A>G (p.Ile1540Met)
c.1410A>G (p.Ile470Met)
 dbSNP gnomAD v3 gnomAD v4
5g.177280618A>TCA447961256NSD1c.4803A>T (p.Ile1601=)
c.318A>T (p.Ile106=)
n.5259A>T
n.425A>T
c.5367A>T (p.Ile1789=)
n.5073A>T
n.5823A>T
n.2595A>T
c.5676A>T (p.Ile1892=)
c.4869A>T (p.Ile1623=)
c.1170A>T (p.Ile390=)
c.5256A>T (p.Ile1752=)
c.4620A>T (p.Ile1540=)
c.1410A>T (p.Ile470=)
5g.177280619C>ACA362312305NSD1c.4804C>A (p.Pro1602Thr)
c.319C>A (p.Pro107Thr)
n.5260C>A
n.426C>A
c.5368C>A (p.Pro1790Thr)
n.5074C>A
n.5824C>A
n.2596C>A
c.5677C>A (p.Pro1893Thr)
c.4870C>A (p.Pro1624Thr)
c.1171C>A (p.Pro391Thr)
c.5257C>A (p.Pro1753Thr)
c.4621C>A (p.Pro1541Thr)
c.1411C>A (p.Pro471Thr)
5g.177280619C>GCA362312300NSD1c.4804C>G (p.Pro1602Ala)
c.319C>G (p.Pro107Ala)
n.5260C>G
n.426C>G
c.5368C>G (p.Pro1790Ala)
n.5074C>G
n.5824C>G
n.2596C>G
c.5677C>G (p.Pro1893Ala)
c.4870C>G (p.Pro1624Ala)
c.1171C>G (p.Pro391Ala)
c.5257C>G (p.Pro1753Ala)
c.4621C>G (p.Pro1541Ala)
c.1411C>G (p.Pro471Ala)
5g.177280619C>TCA362312302NSD1c.4804C>T (p.Pro1602Ser)
c.319C>T (p.Pro107Ser)
n.5260C>T
n.426C>T
c.5368C>T (p.Pro1790Ser)
n.5074C>T
n.5824C>T
n.2596C>T
c.5677C>T (p.Pro1893Ser)
c.4870C>T (p.Pro1624Ser)
c.1171C>T (p.Pro391Ser)
c.5257C>T (p.Pro1753Ser)
c.4621C>T (p.Pro1541Ser)
c.1411C>T (p.Pro471Ser)
 dbSNP
5g.177280620C>ACA362312312NSD1c.4805C>A (p.Pro1602His)
c.320C>A (p.Pro107His)
n.5261C>A
n.427C>A
c.5369C>A (p.Pro1790His)
n.5075C>A
n.5825C>A
n.2597C>A
c.5678C>A (p.Pro1893His)
c.4871C>A (p.Pro1624His)
c.1172C>A (p.Pro391His)
c.5258C>A (p.Pro1753His)
c.4622C>A (p.Pro1541His)
c.1412C>A (p.Pro471His)
5g.177280620C>GCA362312317NSD1c.4805C>G (p.Pro1602Arg)
c.320C>G (p.Pro107Arg)
n.5261C>G
n.427C>G
c.5369C>G (p.Pro1790Arg)
n.5075C>G
n.5825C>G
n.2597C>G
c.5678C>G (p.Pro1893Arg)
c.4871C>G (p.Pro1624Arg)
c.1172C>G (p.Pro391Arg)
c.5258C>G (p.Pro1753Arg)
c.4622C>G (p.Pro1541Arg)
c.1412C>G (p.Pro471Arg)
5g.177280620C>TCA362312320NSD1c.4805C>T (p.Pro1602Leu)
c.320C>T (p.Pro107Leu)
n.5261C>T
n.427C>T
c.5369C>T (p.Pro1790Leu)
n.5075C>T
n.5825C>T
n.2597C>T
c.5678C>T (p.Pro1893Leu)
c.4871C>T (p.Pro1624Leu)
c.1172C>T (p.Pro391Leu)
c.5258C>T (p.Pro1753Leu)
c.4622C>T (p.Pro1541Leu)
c.1412C>T (p.Pro471Leu)
5g.177280621C>ACA447961259NSD1c.4806C>A (p.Pro1602=)
c.321C>A (p.Pro107=)
n.5262C>A
n.428C>A
c.5370C>A (p.Pro1790=)
n.5076C>A
n.5826C>A
n.2598C>A
c.5679C>A (p.Pro1893=)
c.4872C>A (p.Pro1624=)
c.1173C>A (p.Pro391=)
c.5259C>A (p.Pro1753=)
c.4623C>A (p.Pro1541=)
c.1413C>A (p.Pro471=)
 dbSNP
5g.177280621C>GCA447961260NSD1c.4806C>G (p.Pro1602=)
c.321C>G (p.Pro107=)
n.5262C>G
n.428C>G
c.5370C>G (p.Pro1790=)
n.5076C>G
n.5826C>G
n.2598C>G
c.5679C>G (p.Pro1893=)
c.4872C>G (p.Pro1624=)
c.1173C>G (p.Pro391=)
c.5259C>G (p.Pro1753=)
c.4623C>G (p.Pro1541=)
c.1413C>G (p.Pro471=)
5g.177280621C>TCA447961261NSD1c.4806C>T (p.Pro1602=)
c.321C>T (p.Pro107=)
n.5262C>T
n.428C>T
c.5370C>T (p.Pro1790=)
n.5076C>T
n.5826C>T
n.2598C>T
c.5679C>T (p.Pro1893=)
c.4872C>T (p.Pro1624=)
c.1173C>T (p.Pro391=)
c.5259C>T (p.Pro1753=)
c.4623C>T (p.Pro1541=)
c.1413C>T (p.Pro471=)
 dbSNP
5g.177280622C>ACA362312321NSD1c.4807C>A (p.Arg1603Ser)
c.322C>A (p.Arg108Ser)
n.5263C>A
n.429C>A
c.5371C>A (p.Arg1791Ser)
n.5077C>A
n.5827C>A
n.2599C>A
c.5680C>A (p.Arg1894Ser)
c.4873C>A (p.Arg1625Ser)
c.1174C>A (p.Arg392Ser)
c.5260C>A (p.Arg1754Ser)
c.4624C>A (p.Arg1542Ser)
c.1414C>A (p.Arg472Ser)
 gnomAD v4
5g.177280622C>GCA362312323NSD1c.4807C>G (p.Arg1603Gly)
c.322C>G (p.Arg108Gly)
n.5263C>G
n.429C>G
c.5371C>G (p.Arg1791Gly)
n.5077C>G
n.5827C>G
n.2599C>G
c.5680C>G (p.Arg1894Gly)
c.4873C>G (p.Arg1625Gly)
c.1174C>G (p.Arg392Gly)
c.5260C>G (p.Arg1754Gly)
c.4624C>G (p.Arg1542Gly)
c.1414C>G (p.Arg472Gly)
5g.177280622C>TCA362312325NSD1c.4807C>T (p.Arg1603Cys)
c.322C>T (p.Arg108Cys)
n.5263C>T
n.429C>T
c.5371C>T (p.Arg1791Cys)
n.5077C>T
n.5827C>T
n.2599C>T
c.5680C>T (p.Arg1894Cys)
c.4873C>T (p.Arg1625Cys)
c.1174C>T (p.Arg392Cys)
c.5260C>T (p.Arg1754Cys)
c.4624C>T (p.Arg1542Cys)
c.1414C>T (p.Arg472Cys)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.177280623G>ACA362312328NSD1c.4808G>A (p.Arg1603His)
c.323G>A (p.Arg108His)
n.5264G>A
n.430G>A
c.5372G>A (p.Arg1791His)
n.5078G>A
n.5828G>A
n.2600G>A
c.5681G>A (p.Arg1894His)
c.4874G>A (p.Arg1625His)
c.1175G>A (p.Arg392His)
c.5261G>A (p.Arg1754His)
c.4625G>A (p.Arg1542His)
c.1415G>A (p.Arg472His)
 dbSNP gnomAD v2 gnomAD v4
5g.177280623G>CCA362312334NSD1c.4808G>C (p.Arg1603Pro)
c.323G>C (p.Arg108Pro)
n.5264G>C
n.430G>C
c.5372G>C (p.Arg1791Pro)
n.5078G>C
n.5828G>C
n.2600G>C
c.5681G>C (p.Arg1894Pro)
c.4874G>C (p.Arg1625Pro)
c.1175G>C (p.Arg392Pro)
c.5261G>C (p.Arg1754Pro)
c.4625G>C (p.Arg1542Pro)
c.1415G>C (p.Arg472Pro)
 dbSNP
5g.177280623G=CA1603550302NSD1c.4808G= (p.Arg1603=)
c.323G= (p.Arg108=)
n.5264G=
n.430G=
c.5372G= (p.Arg1791=)
n.5078G=
n.5828G=
n.2600G=
c.5681G= (p.Arg1894=)
c.4874G= (p.Arg1625=)
c.1175G= (p.Arg392=)
c.5261G= (p.Arg1754=)
c.4625G= (p.Arg1542=)
c.1415G= (p.Arg472=)
5g.177280623G>TCA362312337NSD1c.4808G>T (p.Arg1603Leu)
c.323G>T (p.Arg108Leu)
n.5264G>T
n.430G>T
c.5372G>T (p.Arg1791Leu)
n.5078G>T
n.5828G>T
n.2600G>T
c.5681G>T (p.Arg1894Leu)
c.4874G>T (p.Arg1625Leu)
c.1175G>T (p.Arg392Leu)
c.5261G>T (p.Arg1754Leu)
c.4625G>T (p.Arg1542Leu)
c.1415G>T (p.Arg472Leu)
5g.177280624T>ACA447961270NSD1c.4809T>A (p.Arg1603=)
c.324T>A (p.Arg108=)
n.5265T>A
n.431T>A
c.5373T>A (p.Arg1791=)
n.5079T>A
n.5829T>A
n.2601T>A
c.5682T>A (p.Arg1894=)
c.4875T>A (p.Arg1625=)
c.1176T>A (p.Arg392=)
c.5262T>A (p.Arg1754=)
c.4626T>A (p.Arg1542=)
c.1416T>A (p.Arg472=)
5g.177280624T>CCA447961269NSD1c.4809T>C (p.Arg1603=)
c.324T>C (p.Arg108=)
n.5265T>C
n.431T>C
c.5373T>C (p.Arg1791=)
n.5079T>C
n.5829T>C
n.2601T>C
c.5682T>C (p.Arg1894=)
c.4875T>C (p.Arg1625=)
c.1176T>C (p.Arg392=)
c.5262T>C (p.Arg1754=)
c.4626T>C (p.Arg1542=)
c.1416T>C (p.Arg472=)
 ClinVar
5g.177280624T>GCA447961268NSD1c.4809T>G (p.Arg1603=)
c.324T>G (p.Arg108=)
n.5265T>G
n.431T>G
c.5373T>G (p.Arg1791=)
n.5079T>G
n.5829T>G
n.2601T>G
c.5682T>G (p.Arg1894=)
c.4875T>G (p.Arg1625=)
c.1176T>G (p.Arg392=)
c.5262T>G (p.Arg1754=)
c.4626T>G (p.Arg1542=)
c.1416T>G (p.Arg472=)
5g.177280625T>ACA362312354NSD1c.4810T>A (p.Cys1604Ser)
c.325T>A (p.Cys109Ser)
n.5266T>A
n.432T>A
c.5374T>A (p.Cys1792Ser)
n.5080T>A
n.5830T>A
n.2602T>A
c.5683T>A (p.Cys1895Ser)
c.4876T>A (p.Cys1626Ser)
c.1177T>A (p.Cys393Ser)
c.5263T>A (p.Cys1755Ser)
c.4627T>A (p.Cys1543Ser)
c.1417T>A (p.Cys473Ser)
5g.177280625T>CCA362312342NSD1c.4810T>C (p.Cys1604Arg)
c.325T>C (p.Cys109Arg)
n.5266T>C
n.432T>C
c.5374T>C (p.Cys1792Arg)
n.5080T>C
n.5830T>C
n.2602T>C
c.5683T>C (p.Cys1895Arg)
c.4876T>C (p.Cys1626Arg)
c.1177T>C (p.Cys393Arg)
c.5263T>C (p.Cys1755Arg)
c.4627T>C (p.Cys1543Arg)
c.1417T>C (p.Cys473Arg)
 ClinVar dbSNP
5g.177280625T>GCA362312351NSD1c.4810T>G (p.Cys1604Gly)
c.325T>G (p.Cys109Gly)
n.5266T>G
n.432T>G
c.5374T>G (p.Cys1792Gly)
n.5080T>G
n.5830T>G
n.2602T>G
c.5683T>G (p.Cys1895Gly)
c.4876T>G (p.Cys1626Gly)
c.1177T>G (p.Cys393Gly)
c.5263T>G (p.Cys1755Gly)
c.4627T>G (p.Cys1543Gly)
c.1417T>G (p.Cys473Gly)
5g.177280625T=CA1603550308NSD1c.4810T= (p.Cys1604=)
c.325T= (p.Cys109=)
n.5266T=
n.432T=
c.5374T= (p.Cys1792=)
n.5080T=
n.5830T=
n.2602T=
c.5683T= (p.Cys1895=)
c.4876T= (p.Cys1626=)
c.1177T= (p.Cys393=)
c.5263T= (p.Cys1755=)
c.4627T= (p.Cys1543=)
c.1417T= (p.Cys473=)
5g.177280626G>ACA362312357NSD1c.4811G>A (p.Cys1604Tyr)
c.326G>A (p.Cys109Tyr)
n.5267G>A
n.433G>A
c.5375G>A (p.Cys1792Tyr)
n.5081G>A
n.5831G>A
n.2603G>A
c.5684G>A (p.Cys1895Tyr)
c.4877G>A (p.Cys1626Tyr)
c.1178G>A (p.Cys393Tyr)
c.5264G>A (p.Cys1755Tyr)
c.4628G>A (p.Cys1543Tyr)
c.1418G>A (p.Cys473Tyr)
 ClinVar dbSNP
5g.177280626G>CCA362312362NSD1c.4811G>C (p.Cys1604Ser)
c.326G>C (p.Cys109Ser)
n.5267G>C
n.433G>C
c.5375G>C (p.Cys1792Ser)
n.5081G>C
n.5831G>C
n.2603G>C
c.5684G>C (p.Cys1895Ser)
c.4877G>C (p.Cys1626Ser)
c.1178G>C (p.Cys393Ser)
c.5264G>C (p.Cys1755Ser)
c.4628G>C (p.Cys1543Ser)
c.1418G>C (p.Cys473Ser)
5g.177280626G=CA1603550312NSD1c.4811G= (p.Cys1604=)
c.326G= (p.Cys109=)
n.5267G=
n.433G=
c.5375G= (p.Cys1792=)
n.5081G=
n.5831G=
n.2603G=
c.5684G= (p.Cys1895=)
c.4877G= (p.Cys1626=)
c.1178G= (p.Cys393=)
c.5264G= (p.Cys1755=)
c.4628G= (p.Cys1543=)
c.1418G= (p.Cys473=)
5g.177280626G>TCA362312364NSD1c.4811G>T (p.Cys1604Phe)
c.326G>T (p.Cys109Phe)
n.5267G>T
n.433G>T
c.5375G>T (p.Cys1792Phe)
n.5081G>T
n.5831G>T
n.2603G>T
c.5684G>T (p.Cys1895Phe)
c.4877G>T (p.Cys1626Phe)
c.1178G>T (p.Cys393Phe)
c.5264G>T (p.Cys1755Phe)
c.4628G>T (p.Cys1543Phe)
c.1418G>T (p.Cys473Phe)
5g.177280627C>ACA362312371NSD1c.4812C>A (p.Cys1604Ter)
c.327C>A (p.Cys109Ter)
n.5268C>A
n.434C>A
c.5376C>A (p.Cys1792Ter)
n.5082C>A
n.5832C>A
n.2604C>A
c.5685C>A (p.Cys1895Ter)
c.4878C>A (p.Cys1626Ter)
c.1179C>A (p.Cys393Ter)
c.5265C>A (p.Cys1755Ter)
c.4629C>A (p.Cys1543Ter)
c.1419C>A (p.Cys473Ter)
5g.177280627C=CA1603550320NSD1c.4812C= (p.Cys1604=)
c.327C= (p.Cys109=)
n.5268C=
n.434C=
c.5376C= (p.Cys1792=)
n.5082C=
n.5832C=
n.2604C=
c.5685C= (p.Cys1895=)
c.4878C= (p.Cys1626=)
c.1179C= (p.Cys393=)
c.5265C= (p.Cys1755=)
c.4629C= (p.Cys1543=)
c.1419C= (p.Cys473=)
5g.177280627C>GCA362312374NSD1c.4812C>G (p.Cys1604Trp)
c.327C>G (p.Cys109Trp)
n.5268C>G
n.434C>G
c.5376C>G (p.Cys1792Trp)
n.5082C>G
n.5832C>G
n.2604C>G
c.5685C>G (p.Cys1895Trp)
c.4878C>G (p.Cys1626Trp)
c.1179C>G (p.Cys393Trp)
c.5265C>G (p.Cys1755Trp)
c.4629C>G (p.Cys1543Trp)
c.1419C>G (p.Cys473Trp)
 ClinVar dbSNP
5g.177280627C>TCA447961283NSD1c.4812C>T (p.Cys1604=)
c.327C>T (p.Cys109=)
n.5268C>T
n.434C>T
c.5376C>T (p.Cys1792=)
n.5082C>T
n.5832C>T
n.2604C>T
c.5685C>T (p.Cys1895=)
c.4878C>T (p.Cys1626=)
c.1179C>T (p.Cys393=)
c.5265C>T (p.Cys1755=)
c.4629C>T (p.Cys1543=)
c.1419C>T (p.Cys473=)
5g.177280628A>CCA362312377NSD1c.4813A>C (p.Asn1605His)
c.328A>C (p.Asn110His)
n.5269A>C
n.435A>C
c.5377A>C (p.Asn1793His)
n.5083A>C
n.5833A>C
n.2605A>C
c.5686A>C (p.Asn1896His)
c.4879A>C (p.Asn1627His)
c.1180A>C (p.Asn394His)
c.5266A>C (p.Asn1756His)
c.4630A>C (p.Asn1544His)
c.1420A>C (p.Asn474His)
5g.177280628A>GCA362312380NSD1c.4813A>G (p.Asn1605Asp)
c.328A>G (p.Asn110Asp)
n.5269A>G
n.435A>G
c.5377A>G (p.Asn1793Asp)
n.5083A>G
n.5833A>G
n.2605A>G
c.5686A>G (p.Asn1896Asp)
c.4879A>G (p.Asn1627Asp)
c.1180A>G (p.Asn394Asp)
c.5266A>G (p.Asn1756Asp)
c.4630A>G (p.Asn1544Asp)
c.1420A>G (p.Asn474Asp)
5g.177280628A>TCA362312383NSD1c.4813A>T (p.Asn1605Tyr)
c.328A>T (p.Asn110Tyr)
n.5269A>T
n.435A>T
c.5377A>T (p.Asn1793Tyr)
n.5083A>T
n.5833A>T
n.2605A>T
c.5686A>T (p.Asn1896Tyr)
c.4879A>T (p.Asn1627Tyr)
c.1180A>T (p.Asn394Tyr)
c.5266A>T (p.Asn1756Tyr)
c.4630A>T (p.Asn1544Tyr)
c.1420A>T (p.Asn474Tyr)
5g.177280629A>CCA362312388NSD1c.4814A>C (p.Asn1605Thr)
c.329A>C (p.Asn110Thr)
n.5270A>C
n.436A>C
c.5378A>C (p.Asn1793Thr)
n.5084A>C
n.5834A>C
n.2606A>C
c.5687A>C (p.Asn1896Thr)
c.4880A>C (p.Asn1627Thr)
c.1181A>C (p.Asn394Thr)
c.5267A>C (p.Asn1756Thr)
c.4631A>C (p.Asn1544Thr)
c.1421A>C (p.Asn474Thr)
5g.177280629A>GCA362312391NSD1c.4814A>G (p.Asn1605Ser)
c.329A>G (p.Asn110Ser)
n.5270A>G
n.436A>G
c.5378A>G (p.Asn1793Ser)
n.5084A>G
n.5834A>G
n.2606A>G
c.5687A>G (p.Asn1896Ser)
c.4880A>G (p.Asn1627Ser)
c.1181A>G (p.Asn394Ser)
c.5267A>G (p.Asn1756Ser)
c.4631A>G (p.Asn1544Ser)
c.1421A>G (p.Asn474Ser)
 gnomAD v4
5g.177280629A>TCA362312401NSD1c.4814A>T (p.Asn1605Ile)
c.329A>T (p.Asn110Ile)
n.5270A>T
n.436A>T
c.5378A>T (p.Asn1793Ile)
n.5084A>T
n.5834A>T
n.2606A>T
c.5687A>T (p.Asn1896Ile)
c.4880A>T (p.Asn1627Ile)
c.1181A>T (p.Asn394Ile)
c.5267A>T (p.Asn1756Ile)
c.4631A>T (p.Asn1544Ile)
c.1421A>T (p.Asn474Ile)
5g.177280630C>ACA362312411NSD1c.4815C>A (p.Asn1605Lys)
c.330C>A (p.Asn110Lys)
n.5271C>A
n.437C>A
c.5379C>A (p.Asn1793Lys)
n.5085C>A
n.5835C>A
n.2607C>A
c.5688C>A (p.Asn1896Lys)
c.4881C>A (p.Asn1627Lys)
c.1182C>A (p.Asn394Lys)
c.5268C>A (p.Asn1756Lys)
c.4632C>A (p.Asn1544Lys)
c.1422C>A (p.Asn474Lys)
5g.177280630C=CA1603550325NSD1c.4815C= (p.Asn1605=)
c.330C= (p.Asn110=)
n.5271C=
n.437C=
c.5379C= (p.Asn1793=)
n.5085C=
n.5835C=
n.2607C=
c.5688C= (p.Asn1896=)
c.4881C= (p.Asn1627=)
c.1182C= (p.Asn394=)
c.5268C= (p.Asn1756=)
c.4632C= (p.Asn1544=)
c.1422C= (p.Asn474=)
5g.177280630C>GCA362312412NSD1c.4815C>G (p.Asn1605Lys)
c.330C>G (p.Asn110Lys)
n.5271C>G
n.437C>G
c.5379C>G (p.Asn1793Lys)
n.5085C>G
n.5835C>G
n.2607C>G
c.5688C>G (p.Asn1896Lys)
c.4881C>G (p.Asn1627Lys)
c.1182C>G (p.Asn394Lys)
c.5268C>G (p.Asn1756Lys)
c.4632C>G (p.Asn1544Lys)
c.1422C>G (p.Asn474Lys)
5g.177280630C>TCA3577888NSD1c.4815C>T (p.Asn1605=)
c.330C>T (p.Asn110=)
n.5271C>T
n.437C>T
c.5379C>T (p.Asn1793=)
n.5085C>T
n.5835C>T
n.2607C>T
c.5688C>T (p.Asn1896=)
c.4881C>T (p.Asn1627=)
c.1182C>T (p.Asn394=)
c.5268C>T (p.Asn1756=)
c.4632C>T (p.Asn1544=)
c.1422C>T (p.Asn474=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280631T>ACA362312413NSD1c.4816T>A (p.Cys1606Ser)
c.331T>A (p.Cys111Ser)
n.5272T>A
n.438T>A
c.5380T>A (p.Cys1794Ser)
n.5086T>A
n.5836T>A
n.2608T>A
c.5689T>A (p.Cys1897Ser)
c.4882T>A (p.Cys1628Ser)
c.1183T>A (p.Cys395Ser)
c.5269T>A (p.Cys1757Ser)
c.4633T>A (p.Cys1545Ser)
c.1423T>A (p.Cys475Ser)
 dbSNP
5g.177280631T>CCA362312414NSD1c.4816T>C (p.Cys1606Arg)
c.331T>C (p.Cys111Arg)
n.5272T>C
n.438T>C
c.5380T>C (p.Cys1794Arg)
n.5086T>C
n.5836T>C
n.2608T>C
c.5689T>C (p.Cys1897Arg)
c.4882T>C (p.Cys1628Arg)
c.1183T>C (p.Cys395Arg)
c.5269T>C (p.Cys1757Arg)
c.4633T>C (p.Cys1545Arg)
c.1423T>C (p.Cys475Arg)
5g.177280631T>GCA362312416NSD1c.4816T>G (p.Cys1606Gly)
c.331T>G (p.Cys111Gly)
n.5272T>G
n.438T>G
c.5380T>G (p.Cys1794Gly)
n.5086T>G
n.5836T>G
n.2608T>G
c.5689T>G (p.Cys1897Gly)
c.4882T>G (p.Cys1628Gly)
c.1183T>G (p.Cys395Gly)
c.5269T>G (p.Cys1757Gly)
c.4633T>G (p.Cys1545Gly)
c.1423T>G (p.Cys475Gly)
5g.177280632G>ACA362312421NSD1c.4817G>A (p.Cys1606Tyr)
c.332G>A (p.Cys111Tyr)
n.5273G>A
n.439G>A
c.5381G>A (p.Cys1794Tyr)
n.5087G>A
n.5837G>A
n.2609G>A
c.5690G>A (p.Cys1897Tyr)
c.4883G>A (p.Cys1628Tyr)
c.1184G>A (p.Cys395Tyr)
c.5270G>A (p.Cys1757Tyr)
c.4634G>A (p.Cys1545Tyr)
c.1424G>A (p.Cys475Tyr)
 dbSNP
5g.177280632G>CCA362312424NSD1c.4817G>C (p.Cys1606Ser)
c.332G>C (p.Cys111Ser)
n.5273G>C
n.439G>C
c.5381G>C (p.Cys1794Ser)
n.5087G>C
n.5837G>C
n.2609G>C
c.5690G>C (p.Cys1897Ser)
c.4883G>C (p.Cys1628Ser)
c.1184G>C (p.Cys395Ser)
c.5270G>C (p.Cys1757Ser)
c.4634G>C (p.Cys1545Ser)
c.1424G>C (p.Cys475Ser)
5g.177280632G>TCA362312426NSD1c.4817G>T (p.Cys1606Phe)
c.332G>T (p.Cys111Phe)
n.5273G>T
n.439G>T
c.5381G>T (p.Cys1794Phe)
n.5087G>T
n.5837G>T
n.2609G>T
c.5690G>T (p.Cys1897Phe)
c.4883G>T (p.Cys1628Phe)
c.1184G>T (p.Cys395Phe)
c.5270G>T (p.Cys1757Phe)
c.4634G>T (p.Cys1545Phe)
c.1424G>T (p.Cys475Phe)
5g.177280633T>ACA362312429NSD1c.4818T>A (p.Cys1606Ter)
c.333T>A (p.Cys111Ter)
n.5274T>A
n.440T>A
c.5382T>A (p.Cys1794Ter)
n.5088T>A
n.5838T>A
n.2610T>A
c.5691T>A (p.Cys1897Ter)
c.4884T>A (p.Cys1628Ter)
c.1185T>A (p.Cys395Ter)
c.5271T>A (p.Cys1757Ter)
c.4635T>A (p.Cys1545Ter)
c.1425T>A (p.Cys475Ter)
5g.177280633T>CCA447961305NSD1c.4818T>C (p.Cys1606=)
c.333T>C (p.Cys111=)
n.5274T>C
n.440T>C
c.5382T>C (p.Cys1794=)
n.5088T>C
n.5838T>C
n.2610T>C
c.5691T>C (p.Cys1897=)
c.4884T>C (p.Cys1628=)
c.1185T>C (p.Cys395=)
c.5271T>C (p.Cys1757=)
c.4635T>C (p.Cys1545=)
c.1425T>C (p.Cys475=)
5g.177280633T>GCA362312434NSD1c.4818T>G (p.Cys1606Trp)
c.333T>G (p.Cys111Trp)
n.5274T>G
n.440T>G
c.5382T>G (p.Cys1794Trp)
n.5088T>G
n.5838T>G
n.2610T>G
c.5691T>G (p.Cys1897Trp)
c.4884T>G (p.Cys1628Trp)
c.1185T>G (p.Cys395Trp)
c.5271T>G (p.Cys1757Trp)
c.4635T>G (p.Cys1545Trp)
c.1425T>G (p.Cys475Trp)
5g.177280634A>CCA362312439NSD1c.4819A>C (p.Lys1607Gln)
c.334A>C (p.Lys112Gln)
n.5275A>C
n.441A>C
c.5383A>C (p.Lys1795Gln)
n.5089A>C
n.5839A>C
n.2611A>C
c.5692A>C (p.Lys1898Gln)
c.4885A>C (p.Lys1629Gln)
c.1186A>C (p.Lys396Gln)
c.5272A>C (p.Lys1758Gln)
c.4636A>C (p.Lys1546Gln)
c.1426A>C (p.Lys476Gln)
5g.177280634A>GCA362312443NSD1c.4819A>G (p.Lys1607Glu)
c.334A>G (p.Lys112Glu)
n.5275A>G
n.441A>G
c.5383A>G (p.Lys1795Glu)
n.5089A>G
n.5839A>G
n.2611A>G
c.5692A>G (p.Lys1898Glu)
c.4885A>G (p.Lys1629Glu)
c.1186A>G (p.Lys396Glu)
c.5272A>G (p.Lys1758Glu)
c.4636A>G (p.Lys1546Glu)
c.1426A>G (p.Lys476Glu)
5g.177280634A>TCA362312446NSD1c.4819A>T (p.Lys1607Ter)
c.334A>T (p.Lys112Ter)
n.5275A>T
n.441A>T
c.5383A>T (p.Lys1795Ter)
n.5089A>T
n.5839A>T
n.2611A>T
c.5692A>T (p.Lys1898Ter)
c.4885A>T (p.Lys1629Ter)
c.1186A>T (p.Lys396Ter)
c.5272A>T (p.Lys1758Ter)
c.4636A>T (p.Lys1546Ter)
c.1426A>T (p.Lys476Ter)
5g.177280635A>CCA362312452NSD1c.4820A>C (p.Lys1607Thr)
c.335A>C (p.Lys112Thr)
n.5276A>C
n.442A>C
c.5384A>C (p.Lys1795Thr)
n.5090A>C
n.5840A>C
n.2612A>C
c.5693A>C (p.Lys1898Thr)
c.4886A>C (p.Lys1629Thr)
c.1187A>C (p.Lys396Thr)
c.5273A>C (p.Lys1758Thr)
c.4637A>C (p.Lys1546Thr)
c.1427A>C (p.Lys476Thr)
5g.177280635A>GCA362312453NSD1c.4820A>G (p.Lys1607Arg)
c.335A>G (p.Lys112Arg)
n.5276A>G
n.442A>G
c.5384A>G (p.Lys1795Arg)
n.5090A>G
n.5840A>G
n.2612A>G
c.5693A>G (p.Lys1898Arg)
c.4886A>G (p.Lys1629Arg)
c.1187A>G (p.Lys396Arg)
c.5273A>G (p.Lys1758Arg)
c.4637A>G (p.Lys1546Arg)
c.1427A>G (p.Lys476Arg)
5g.177280635A>TCA362312474NSD1c.4820A>T (p.Lys1607Ile)
c.335A>T (p.Lys112Ile)
n.5276A>T
n.442A>T
c.5384A>T (p.Lys1795Ile)
n.5090A>T
n.5840A>T
n.2612A>T
c.5693A>T (p.Lys1898Ile)
c.4886A>T (p.Lys1629Ile)
c.1187A>T (p.Lys396Ile)
c.5273A>T (p.Lys1758Ile)
c.4637A>T (p.Lys1546Ile)
c.1427A>T (p.Lys476Ile)
5g.177280636A=CA1603550327NSD1c.4821A= (p.Lys1607=)
c.336A= (p.Lys112=)
n.5277A=
n.443A=
c.5385A= (p.Lys1795=)
n.5091A=
n.5841A=
n.2613A=
c.5694A= (p.Lys1898=)
c.4887A= (p.Lys1629=)
c.1188A= (p.Lys396=)
c.5274A= (p.Lys1758=)
c.4638A= (p.Lys1546=)
c.1428A= (p.Lys476=)
5g.177280636A>CCA362312478NSD1c.4821A>C (p.Lys1607Asn)
c.336A>C (p.Lys112Asn)
n.5277A>C
n.443A>C
c.5385A>C (p.Lys1795Asn)
n.5091A>C
n.5841A>C
n.2613A>C
c.5694A>C (p.Lys1898Asn)
c.4887A>C (p.Lys1629Asn)
c.1188A>C (p.Lys396Asn)
c.5274A>C (p.Lys1758Asn)
c.4638A>C (p.Lys1546Asn)
c.1428A>C (p.Lys476Asn)
5g.177280636A>GCA447961310NSD1c.4821A>G (p.Lys1607=)
c.336A>G (p.Lys112=)
n.5277A>G
n.443A>G
c.5385A>G (p.Lys1795=)
n.5091A>G
n.5841A>G
n.2613A>G
c.5694A>G (p.Lys1898=)
c.4887A>G (p.Lys1629=)
c.1188A>G (p.Lys396=)
c.5274A>G (p.Lys1758=)
c.4638A>G (p.Lys1546=)
c.1428A>G (p.Lys476=)
 dbSNP
5g.177280636A>TCA362312481NSD1c.4821A>T (p.Lys1607Asn)
c.336A>T (p.Lys112Asn)
n.5277A>T
n.443A>T
c.5385A>T (p.Lys1795Asn)
n.5091A>T
n.5841A>T
n.2613A>T
c.5694A>T (p.Lys1898Asn)
c.4887A>T (p.Lys1629Asn)
c.1188A>T (p.Lys396Asn)
c.5274A>T (p.Lys1758Asn)
c.4638A>T (p.Lys1546Asn)
c.1428A>T (p.Lys476Asn)
5g.177280637G>ACA362312485NSD1c.4822G>A (p.Ala1608Thr)
c.337G>A (p.Ala113Thr)
n.5278G>A
n.444G>A
c.5386G>A (p.Ala1796Thr)
n.5092G>A
n.5842G>A
n.2614G>A
c.5695G>A (p.Ala1899Thr)
c.4888G>A (p.Ala1630Thr)
c.1189G>A (p.Ala397Thr)
c.5275G>A (p.Ala1759Thr)
c.4639G>A (p.Ala1547Thr)
c.1429G>A (p.Ala477Thr)
5g.177280637G>CCA362312489NSD1c.4822G>C (p.Ala1608Pro)
c.337G>C (p.Ala113Pro)
n.5278G>C
n.444G>C
c.5386G>C (p.Ala1796Pro)
n.5092G>C
n.5842G>C
n.2614G>C
c.5695G>C (p.Ala1899Pro)
c.4888G>C (p.Ala1630Pro)
c.1189G>C (p.Ala397Pro)
c.5275G>C (p.Ala1759Pro)
c.4639G>C (p.Ala1547Pro)
c.1429G>C (p.Ala477Pro)
5g.177280637G>TCA362312492NSD1c.4822G>T (p.Ala1608Ser)
c.337G>T (p.Ala113Ser)
n.5278G>T
n.444G>T
c.5386G>T (p.Ala1796Ser)
n.5092G>T
n.5842G>T
n.2614G>T
c.5695G>T (p.Ala1899Ser)
c.4888G>T (p.Ala1630Ser)
c.1189G>T (p.Ala397Ser)
c.5275G>T (p.Ala1759Ser)
c.4639G>T (p.Ala1547Ser)
c.1429G>T (p.Ala477Ser)
5g.177280638C>ACA362312494NSD1c.4823C>A (p.Ala1608Asp)
c.338C>A (p.Ala113Asp)
n.5279C>A
n.445C>A
c.5387C>A (p.Ala1796Asp)
n.5093C>A
n.5843C>A
n.2615C>A
c.5696C>A (p.Ala1899Asp)
c.4889C>A (p.Ala1630Asp)
c.1190C>A (p.Ala397Asp)
c.5276C>A (p.Ala1759Asp)
c.4640C>A (p.Ala1547Asp)
c.1430C>A (p.Ala477Asp)
 dbSNP
5g.177280638C>GCA362312498NSD1c.4823C>G (p.Ala1608Gly)
c.338C>G (p.Ala113Gly)
n.5279C>G
n.445C>G
c.5387C>G (p.Ala1796Gly)
n.5093C>G
n.5843C>G
n.2615C>G
c.5696C>G (p.Ala1899Gly)
c.4889C>G (p.Ala1630Gly)
c.1190C>G (p.Ala397Gly)
c.5276C>G (p.Ala1759Gly)
c.4640C>G (p.Ala1547Gly)
c.1430C>G (p.Ala477Gly)
5g.177280638C>TCA362312502NSD1c.4823C>T (p.Ala1608Val)
c.338C>T (p.Ala113Val)
n.5279C>T
n.445C>T
c.5387C>T (p.Ala1796Val)
n.5093C>T
n.5843C>T
n.2615C>T
c.5696C>T (p.Ala1899Val)
c.4889C>T (p.Ala1630Val)
c.1190C>T (p.Ala397Val)
c.5276C>T (p.Ala1759Val)
c.4640C>T (p.Ala1547Val)
c.1430C>T (p.Ala477Val)
5g.177280639T>ACA447961318NSD1c.4824T>A (p.Ala1608=)
c.339T>A (p.Ala113=)
n.5280T>A
n.446T>A
c.5388T>A (p.Ala1796=)
n.5094T>A
n.5844T>A
n.2616T>A
c.5697T>A (p.Ala1899=)
c.4890T>A (p.Ala1630=)
c.1191T>A (p.Ala397=)
c.5277T>A (p.Ala1759=)
c.4641T>A (p.Ala1547=)
c.1431T>A (p.Ala477=)
5g.177280639T>CCA447961321NSD1c.4824T>C (p.Ala1608=)
c.339T>C (p.Ala113=)
n.5280T>C
n.446T>C
c.5388T>C (p.Ala1796=)
n.5094T>C
n.5844T>C
n.2616T>C
c.5697T>C (p.Ala1899=)
c.4890T>C (p.Ala1630=)
c.1191T>C (p.Ala397=)
c.5277T>C (p.Ala1759=)
c.4641T>C (p.Ala1547=)
c.1431T>C (p.Ala477=)
5g.177280639T>GCA447961323NSD1c.4824T>G (p.Ala1608=)
c.339T>G (p.Ala113=)
n.5280T>G
n.446T>G
c.5388T>G (p.Ala1796=)
n.5094T>G
n.5844T>G
n.2616T>G
c.5697T>G (p.Ala1899=)
c.4890T>G (p.Ala1630=)
c.1191T>G (p.Ala397=)
c.5277T>G (p.Ala1759=)
c.4641T>G (p.Ala1547=)
c.1431T>G (p.Ala477=)
5g.177280640A>CCA362312509NSD1c.4825A>C (p.Thr1609Pro)
c.340A>C (p.Thr114Pro)
n.5281A>C
n.447A>C
c.5389A>C (p.Thr1797Pro)
n.5095A>C
n.5845A>C
n.2617A>C
c.5698A>C (p.Thr1900Pro)
c.4891A>C (p.Thr1631Pro)
c.1192A>C (p.Thr398Pro)
c.5278A>C (p.Thr1760Pro)
c.4642A>C (p.Thr1548Pro)
c.1432A>C (p.Thr478Pro)
5g.177280640A>GCA362312513NSD1c.4825A>G (p.Thr1609Ala)
c.340A>G (p.Thr114Ala)
n.5281A>G
n.447A>G
c.5389A>G (p.Thr1797Ala)
n.5095A>G
n.5845A>G
n.2617A>G
c.5698A>G (p.Thr1900Ala)
c.4891A>G (p.Thr1631Ala)
c.1192A>G (p.Thr398Ala)
c.5278A>G (p.Thr1760Ala)
c.4642A>G (p.Thr1548Ala)
c.1432A>G (p.Thr478Ala)
5g.177280640A>TCA362312519NSD1c.4825A>T (p.Thr1609Ser)
c.340A>T (p.Thr114Ser)
n.5281A>T
n.447A>T
c.5389A>T (p.Thr1797Ser)
n.5095A>T
n.5845A>T
n.2617A>T
c.5698A>T (p.Thr1900Ser)
c.4891A>T (p.Thr1631Ser)
c.1192A>T (p.Thr398Ser)
c.5278A>T (p.Thr1760Ser)
c.4642A>T (p.Thr1548Ser)
c.1432A>T (p.Thr478Ser)
5g.177280640_177280641delinsACCA1603550330NSD1c.4825_4826delinsAC (p.Thr1609=)
c.340_341delinsAC (p.Thr114=)
n.5281_5282delinsAC
n.447_448delinsAC
c.5389_5390delinsAC (p.Thr1797=)
n.5095_5096delinsAC
n.5845_5846delinsAC
n.2617_2618delinsAC
c.5698_5699delinsAC (p.Thr1900=)
c.4891_4892delinsAC (p.Thr1631=)
c.1192_1193delinsAC (p.Thr398=)
c.5278_5279delinsAC (p.Thr1760=)
c.4642_4643delinsAC (p.Thr1548=)
c.1432_1433delinsAC (p.Thr478=)
5g.177280641delCA16618181NSD1c.4826del (p.Thr1609MetfsTer8)
c.341del (p.Thr114MetfsTer8)
n.5282del
n.448del
c.5390del (p.Thr1797MetfsTer8)
n.5096del
n.5846del
n.2618del
c.5699del (p.Thr1900MetfsTer8)
c.4892del (p.Thr1631MetfsTer8)
c.1193del (p.Thr398MetfsTer8)
c.5279del (p.Thr1760MetfsTer8)
c.4643del (p.Thr1548MetfsTer8)
c.1433del (p.Thr478MetfsTer8)
 ClinVar dbSNP
5g.177280641C>ACA362312525NSD1c.4826C>A (p.Thr1609Asn)
c.341C>A (p.Thr114Asn)
n.5282C>A
n.448C>A
c.5390C>A (p.Thr1797Asn)
n.5096C>A
n.5846C>A
n.2618C>A
c.5699C>A (p.Thr1900Asn)
c.4892C>A (p.Thr1631Asn)
c.1193C>A (p.Thr398Asn)
c.5279C>A (p.Thr1760Asn)
c.4643C>A (p.Thr1548Asn)
c.1433C>A (p.Thr478Asn)
5g.177280641C>GCA362312527NSD1c.4826C>G (p.Thr1609Ser)
c.341C>G (p.Thr114Ser)
n.5282C>G
n.448C>G
c.5390C>G (p.Thr1797Ser)
n.5096C>G
n.5846C>G
n.2618C>G
c.5699C>G (p.Thr1900Ser)
c.4892C>G (p.Thr1631Ser)
c.1193C>G (p.Thr398Ser)
c.5279C>G (p.Thr1760Ser)
c.4643C>G (p.Thr1548Ser)
c.1433C>G (p.Thr478Ser)
5g.177280641C>TCA362312531NSD1c.4826C>T (p.Thr1609Ile)
c.341C>T (p.Thr114Ile)
n.5282C>T
n.448C>T
c.5390C>T (p.Thr1797Ile)
n.5096C>T
n.5846C>T
n.2618C>T
c.5699C>T (p.Thr1900Ile)
c.4892C>T (p.Thr1631Ile)
c.1193C>T (p.Thr398Ile)
c.5279C>T (p.Thr1760Ile)
c.4643C>T (p.Thr1548Ile)
c.1433C>T (p.Thr478Ile)
 dbSNP
5g.177280642T>ACA447961333NSD1c.4827T>A (p.Thr1609=)
c.342T>A (p.Thr114=)
n.5283T>A
n.449T>A
c.5391T>A (p.Thr1797=)
n.5097T>A
n.5847T>A
n.2619T>A
c.5700T>A (p.Thr1900=)
c.4893T>A (p.Thr1631=)
c.1194T>A (p.Thr398=)
c.5280T>A (p.Thr1760=)
c.4644T>A (p.Thr1548=)
c.1434T>A (p.Thr478=)
5g.177280642T>CCA447961337NSD1c.4827T>C (p.Thr1609=)
c.342T>C (p.Thr114=)
n.5283T>C
n.449T>C
c.5391T>C (p.Thr1797=)
n.5097T>C
n.5847T>C
n.2619T>C
c.5700T>C (p.Thr1900=)
c.4893T>C (p.Thr1631=)
c.1194T>C (p.Thr398=)
c.5280T>C (p.Thr1760=)
c.4644T>C (p.Thr1548=)
c.1434T>C (p.Thr478=)
5g.177280642T>GCA447961342NSD1c.4827T>G (p.Thr1609=)
c.342T>G (p.Thr114=)
n.5283T>G
n.449T>G
c.5391T>G (p.Thr1797=)
n.5097T>G
n.5847T>G
n.2619T>G
c.5700T>G (p.Thr1900=)
c.4893T>G (p.Thr1631=)
c.1194T>G (p.Thr398=)
c.5280T>G (p.Thr1760=)
c.4644T>G (p.Thr1548=)
c.1434T>G (p.Thr478=)
5g.177280643G>ACA362312543NSD1c.4828G>A (p.Asp1610Asn)
c.343G>A (p.Asp115Asn)
n.5284G>A
n.450G>A
c.5392G>A (p.Asp1798Asn)
n.5098G>A
n.5848G>A
n.2620G>A
c.5701G>A (p.Asp1901Asn)
c.4894G>A (p.Asp1632Asn)
c.1195G>A (p.Asp399Asn)
c.5281G>A (p.Asp1761Asn)
c.4645G>A (p.Asp1549Asn)
c.1435G>A (p.Asp479Asn)
5g.177280643G>CCA362312540NSD1c.4828G>C (p.Asp1610His)
c.343G>C (p.Asp115His)
n.5284G>C
n.450G>C
c.5392G>C (p.Asp1798His)
n.5098G>C
n.5848G>C
n.2620G>C
c.5701G>C (p.Asp1901His)
c.4894G>C (p.Asp1632His)
c.1195G>C (p.Asp399His)
c.5281G>C (p.Asp1761His)
c.4645G>C (p.Asp1549His)
c.1435G>C (p.Asp479His)
5g.177280643G>TCA362312537NSD1c.4828G>T (p.Asp1610Tyr)
c.343G>T (p.Asp115Tyr)
n.5284G>T
n.450G>T
c.5392G>T (p.Asp1798Tyr)
n.5098G>T
n.5848G>T
n.2620G>T
c.5701G>T (p.Asp1901Tyr)
c.4894G>T (p.Asp1632Tyr)
c.1195G>T (p.Asp399Tyr)
c.5281G>T (p.Asp1761Tyr)
c.4645G>T (p.Asp1549Tyr)
c.1435G>T (p.Asp479Tyr)
5g.177280644A>CCA362312548NSD1c.4829A>C (p.Asp1610Ala)
c.344A>C (p.Asp115Ala)
n.5285A>C
n.451A>C
c.5393A>C (p.Asp1798Ala)
n.5099A>C
n.5849A>C
n.2621A>C
c.5702A>C (p.Asp1901Ala)
c.4895A>C (p.Asp1632Ala)
c.1196A>C (p.Asp399Ala)
c.5282A>C (p.Asp1761Ala)
c.4646A>C (p.Asp1549Ala)
c.1436A>C (p.Asp479Ala)
5g.177280644A>GCA362312553NSD1c.4829A>G (p.Asp1610Gly)
c.344A>G (p.Asp115Gly)
n.5285A>G
n.451A>G
c.5393A>G (p.Asp1798Gly)
n.5099A>G
n.5849A>G
n.2621A>G
c.5702A>G (p.Asp1901Gly)
c.4895A>G (p.Asp1632Gly)
c.1196A>G (p.Asp399Gly)
c.5282A>G (p.Asp1761Gly)
c.4646A>G (p.Asp1549Gly)
c.1436A>G (p.Asp479Gly)
5g.177280644A>TCA362312551NSD1c.4829A>T (p.Asp1610Val)
c.344A>T (p.Asp115Val)
n.5285A>T
n.451A>T
c.5393A>T (p.Asp1798Val)
n.5099A>T
n.5849A>T
n.2621A>T
c.5702A>T (p.Asp1901Val)
c.4895A>T (p.Asp1632Val)
c.1196A>T (p.Asp399Val)
c.5282A>T (p.Asp1761Val)
c.4646A>T (p.Asp1549Val)
c.1436A>T (p.Asp479Val)
5g.177280645T>ACA362312555NSD1c.4830T>A (p.Asp1610Glu)
c.345T>A (p.Asp115Glu)
n.5286T>A
n.452T>A
c.5394T>A (p.Asp1798Glu)
n.5100T>A
n.5850T>A
n.2622T>A
c.5703T>A (p.Asp1901Glu)
c.4896T>A (p.Asp1632Glu)
c.1197T>A (p.Asp399Glu)
c.5283T>A (p.Asp1761Glu)
c.4647T>A (p.Asp1549Glu)
c.1437T>A (p.Asp479Glu)
5g.177280645T>CCA447961346NSD1c.4830T>C (p.Asp1610=)
c.345T>C (p.Asp115=)
n.5286T>C
n.452T>C
c.5394T>C (p.Asp1798=)
n.5100T>C
n.5850T>C
n.2622T>C
c.5703T>C (p.Asp1901=)
c.4896T>C (p.Asp1632=)
c.1197T>C (p.Asp399=)
c.5283T>C (p.Asp1761=)
c.4647T>C (p.Asp1549=)
c.1437T>C (p.Asp479=)
5g.177280645T>GCA362312563NSD1c.4830T>G (p.Asp1610Glu)
c.345T>G (p.Asp115Glu)
n.5286T>G
n.452T>G
c.5394T>G (p.Asp1798Glu)
n.5100T>G
n.5850T>G
n.2622T>G
c.5703T>G (p.Asp1901Glu)
c.4896T>G (p.Asp1632Glu)
c.1197T>G (p.Asp399Glu)
c.5283T>G (p.Asp1761Glu)
c.4647T>G (p.Asp1549Glu)
c.1437T>G (p.Asp479Glu)
5g.177280646G>ACA362312567NSD1c.4831G>A (p.Glu1611Lys)
c.346G>A (p.Glu116Lys)
n.5287G>A
n.453G>A
c.5395G>A (p.Glu1799Lys)
n.5101G>A
n.5851G>A
n.2623G>A
c.5704G>A (p.Glu1902Lys)
c.4897G>A (p.Glu1633Lys)
c.1198G>A (p.Glu400Lys)
c.5284G>A (p.Glu1762Lys)
c.4648G>A (p.Glu1550Lys)
c.1438G>A (p.Glu480Lys)
5g.177280646G>CCA362312571NSD1c.4831G>C (p.Glu1611Gln)
c.346G>C (p.Glu116Gln)
n.5287G>C
n.453G>C
c.5395G>C (p.Glu1799Gln)
n.5101G>C
n.5851G>C
n.2623G>C
c.5704G>C (p.Glu1902Gln)
c.4897G>C (p.Glu1633Gln)
c.1198G>C (p.Glu400Gln)
c.5284G>C (p.Glu1762Gln)
c.4648G>C (p.Glu1550Gln)
c.1438G>C (p.Glu480Gln)
5g.177280646G>TCA362312574NSD1c.4831G>T (p.Glu1611Ter)
c.346G>T (p.Glu116Ter)
n.5287G>T
n.453G>T
c.5395G>T (p.Glu1799Ter)
n.5101G>T
n.5851G>T
n.2623G>T
c.5704G>T (p.Glu1902Ter)
c.4897G>T (p.Glu1633Ter)
c.1198G>T (p.Glu400Ter)
c.5284G>T (p.Glu1762Ter)
c.4648G>T (p.Glu1550Ter)
c.1438G>T (p.Glu480Ter)
5g.177280647A>CCA362312589NSD1c.4832A>C (p.Glu1611Ala)
c.347A>C (p.Glu116Ala)
n.5288A>C
n.454A>C
c.5396A>C (p.Glu1799Ala)
n.5102A>C
n.5852A>C
n.2624A>C
c.5705A>C (p.Glu1902Ala)
c.4898A>C (p.Glu1633Ala)
c.1199A>C (p.Glu400Ala)
c.5285A>C (p.Glu1762Ala)
c.4649A>C (p.Glu1550Ala)
c.1439A>C (p.Glu480Ala)
5g.177280647A>GCA362312592NSD1c.4832A>G (p.Glu1611Gly)
c.347A>G (p.Glu116Gly)
n.5288A>G
n.454A>G
c.5396A>G (p.Glu1799Gly)
n.5102A>G
n.5852A>G
n.2624A>G
c.5705A>G (p.Glu1902Gly)
c.4898A>G (p.Glu1633Gly)
c.1199A>G (p.Glu400Gly)
c.5285A>G (p.Glu1762Gly)
c.4649A>G (p.Glu1550Gly)
c.1439A>G (p.Glu480Gly)
5g.177280647A>TCA362312596NSD1c.4832A>T (p.Glu1611Val)
c.347A>T (p.Glu116Val)
n.5288A>T
n.454A>T
c.5396A>T (p.Glu1799Val)
n.5102A>T
n.5852A>T
n.2624A>T
c.5705A>T (p.Glu1902Val)
c.4898A>T (p.Glu1633Val)
c.1199A>T (p.Glu400Val)
c.5285A>T (p.Glu1762Val)
c.4649A>T (p.Glu1550Val)
c.1439A>T (p.Glu480Val)
5g.177280648G>ACA447961360NSD1c.4833G>A (p.Glu1611=)
c.348G>A (p.Glu116=)
n.5289G>A
n.455G>A
c.5397G>A (p.Glu1799=)
n.5103G>A
n.5853G>A
n.2625G>A
c.5706G>A (p.Glu1902=)
c.4899G>A (p.Glu1633=)
c.1200G>A (p.Glu400=)
c.5286G>A (p.Glu1762=)
c.4650G>A (p.Glu1550=)
c.1440G>A (p.Glu480=)
5g.177280648G>CCA362312601NSD1c.4833G>C (p.Glu1611Asp)
c.348G>C (p.Glu116Asp)
n.5289G>C
n.455G>C
c.5397G>C (p.Glu1799Asp)
n.5103G>C
n.5853G>C
n.2625G>C
c.5706G>C (p.Glu1902Asp)
c.4899G>C (p.Glu1633Asp)
c.1200G>C (p.Glu400Asp)
c.5286G>C (p.Glu1762Asp)
c.4650G>C (p.Glu1550Asp)
c.1440G>C (p.Glu480Asp)
5g.177280648G>TCA362312604NSD1c.4833G>T (p.Glu1611Asp)
c.348G>T (p.Glu116Asp)
n.5289G>T
n.455G>T
c.5397G>T (p.Glu1799Asp)
n.5103G>T
n.5853G>T
n.2625G>T
c.5706G>T (p.Glu1902Asp)
c.4899G>T (p.Glu1633Asp)
c.1200G>T (p.Glu400Asp)
c.5286G>T (p.Glu1762Asp)
c.4650G>T (p.Glu1550Asp)
c.1440G>T (p.Glu480Asp)
5g.177280649A>CCA362312609NSD1c.4834A>C (p.Asn1612His)
c.349A>C (p.Asn117His)
n.5290A>C
n.456A>C
c.5398A>C (p.Asn1800His)
n.5104A>C
n.5854A>C
n.2626A>C
c.5707A>C (p.Asn1903His)
c.4900A>C (p.Asn1634His)
c.1201A>C (p.Asn401His)
c.5287A>C (p.Asn1763His)
c.4651A>C (p.Asn1551His)
c.1441A>C (p.Asn481His)
5g.177280649A>GCA362312614NSD1c.4834A>G (p.Asn1612Asp)
c.349A>G (p.Asn117Asp)
n.5290A>G
n.456A>G
c.5398A>G (p.Asn1800Asp)
n.5104A>G
n.5854A>G
n.2626A>G
c.5707A>G (p.Asn1903Asp)
c.4900A>G (p.Asn1634Asp)
c.1201A>G (p.Asn401Asp)
c.5287A>G (p.Asn1763Asp)
c.4651A>G (p.Asn1551Asp)
c.1441A>G (p.Asn481Asp)
5g.177280649A>TCA362312618NSD1c.4834A>T (p.Asn1612Tyr)
c.349A>T (p.Asn117Tyr)
n.5290A>T
n.456A>T
c.5398A>T (p.Asn1800Tyr)
n.5104A>T
n.5854A>T
n.2626A>T
c.5707A>T (p.Asn1903Tyr)
c.4900A>T (p.Asn1634Tyr)
c.1201A>T (p.Asn401Tyr)
c.5287A>T (p.Asn1763Tyr)
c.4651A>T (p.Asn1551Tyr)
c.1441A>T (p.Asn481Tyr)
5g.177280650A>CCA362312623NSD1c.4835A>C (p.Asn1612Thr)
c.350A>C (p.Asn117Thr)
n.5291A>C
n.457A>C
c.5399A>C (p.Asn1800Thr)
n.5105A>C
n.5855A>C
n.2627A>C
c.5708A>C (p.Asn1903Thr)
c.4901A>C (p.Asn1634Thr)
c.1202A>C (p.Asn401Thr)
c.5288A>C (p.Asn1763Thr)
c.4652A>C (p.Asn1551Thr)
c.1442A>C (p.Asn481Thr)
5g.177280650A>GCA362312631NSD1c.4835A>G (p.Asn1612Ser)
c.350A>G (p.Asn117Ser)
n.5291A>G
n.457A>G
c.5399A>G (p.Asn1800Ser)
n.5105A>G
n.5855A>G
n.2627A>G
c.5708A>G (p.Asn1903Ser)
c.4901A>G (p.Asn1634Ser)
c.1202A>G (p.Asn401Ser)
c.5288A>G (p.Asn1763Ser)
c.4652A>G (p.Asn1551Ser)
c.1442A>G (p.Asn481Ser)
 gnomAD v4
5g.177280650A>TCA362312628NSD1c.4835A>T (p.Asn1612Ile)
c.350A>T (p.Asn117Ile)
n.5291A>T
n.457A>T
c.5399A>T (p.Asn1800Ile)
n.5105A>T
n.5855A>T
n.2627A>T
c.5708A>T (p.Asn1903Ile)
c.4901A>T (p.Asn1634Ile)
c.1202A>T (p.Asn401Ile)
c.5288A>T (p.Asn1763Ile)
c.4652A>T (p.Asn1551Ile)
c.1442A>T (p.Asn481Ile)
5g.177280650_177280651delinsACCA1603550337NSD1c.4835_4836delinsAC (p.Asn1612=)
c.350_351delinsAC (p.Asn117=)
n.5291_5292delinsAC
n.457_458delinsAC
c.5399_5400delinsAC (p.Asn1800=)
n.5105_5106delinsAC
n.5855_5856delinsAC
n.2627_2628delinsAC
c.5708_5709delinsAC (p.Asn1903=)
c.4901_4902delinsAC (p.Asn1634=)
c.1202_1203delinsAC (p.Asn401=)
c.5288_5289delinsAC (p.Asn1763=)
c.4652_4653delinsAC (p.Asn1551=)
c.1442_1443delinsAC (p.Asn481=)
5g.177280651C>ACA362312636NSD1c.4836C>A (p.Asn1612Lys)
c.351C>A (p.Asn117Lys)
n.5292C>A
n.458C>A
c.5400C>A (p.Asn1800Lys)
n.5106C>A
n.5856C>A
n.2628C>A
c.5709C>A (p.Asn1903Lys)
c.4902C>A (p.Asn1634Lys)
c.1203C>A (p.Asn401Lys)
c.5289C>A (p.Asn1763Lys)
c.4653C>A (p.Asn1551Lys)
c.1443C>A (p.Asn481Lys)
 gnomAD v4
5g.177280651C>GCA362312641NSD1c.4836C>G (p.Asn1612Lys)
c.351C>G (p.Asn117Lys)
n.5292C>G
n.458C>G
c.5400C>G (p.Asn1800Lys)
n.5106C>G
n.5856C>G
n.2628C>G
c.5709C>G (p.Asn1903Lys)
c.4902C>G (p.Asn1634Lys)
c.1203C>G (p.Asn401Lys)
c.5289C>G (p.Asn1763Lys)
c.4653C>G (p.Asn1551Lys)
c.1443C>G (p.Asn481Lys)
 gnomAD v4
5g.177280651C>TCA447961373NSD1c.4836C>T (p.Asn1612=)
c.351C>T (p.Asn117=)
n.5292C>T
n.458C>T
c.5400C>T (p.Asn1800=)
n.5106C>T
n.5856C>T
n.2628C>T
c.5709C>T (p.Asn1903=)
c.4902C>T (p.Asn1634=)
c.1203C>T (p.Asn401=)
c.5289C>T (p.Asn1763=)
c.4653C>T (p.Asn1551=)
c.1443C>T (p.Asn481=)
 dbSNP
5g.177280654delCA294973NSD1c.4839del (p.Cys1614ValfsTer3)
c.354del (p.Cys119ValfsTer3)
n.5295del
n.461del
c.5403del (p.Cys1802ValfsTer3)
n.5109del
n.5859del
n.2631del
c.5712del (p.Cys1905ValfsTer3)
c.4905del (p.Cys1636ValfsTer3)
c.1206del (p.Cys403ValfsTer3)
c.5292del (p.Cys1765ValfsTer3)
c.4656del (p.Cys1553ValfsTer3)
c.1446del (p.Cys483ValfsTer3)
 ClinVar dbSNP
5g.177280652C>ACA362312649NSD1c.4837C>A (p.Pro1613Thr)
c.352C>A (p.Pro118Thr)
n.5293C>A
n.459C>A
c.5401C>A (p.Pro1801Thr)
n.5107C>A
n.5857C>A
n.2629C>A
c.5710C>A (p.Pro1904Thr)
c.4903C>A (p.Pro1635Thr)
c.1204C>A (p.Pro402Thr)
c.5290C>A (p.Pro1764Thr)
c.4654C>A (p.Pro1552Thr)
c.1444C>A (p.Pro482Thr)
 ClinVar
5g.177280652C>GCA362312656NSD1c.4837C>G (p.Pro1613Ala)
c.352C>G (p.Pro118Ala)
n.5293C>G
n.459C>G
c.5401C>G (p.Pro1801Ala)
n.5107C>G
n.5857C>G
n.2629C>G
c.5710C>G (p.Pro1904Ala)
c.4903C>G (p.Pro1635Ala)
c.1204C>G (p.Pro402Ala)
c.5290C>G (p.Pro1764Ala)
c.4654C>G (p.Pro1552Ala)
c.1444C>G (p.Pro482Ala)
5g.177280652C>TCA362312658NSD1c.4837C>T (p.Pro1613Ser)
c.352C>T (p.Pro118Ser)
n.5293C>T
n.459C>T
c.5401C>T (p.Pro1801Ser)
n.5107C>T
n.5857C>T
n.2629C>T
c.5710C>T (p.Pro1904Ser)
c.4903C>T (p.Pro1635Ser)
c.1204C>T (p.Pro402Ser)
c.5290C>T (p.Pro1764Ser)
c.4654C>T (p.Pro1552Ser)
c.1444C>T (p.Pro482Ser)
 ClinVar
5g.177280653C>ACA362312663NSD1c.4838C>A (p.Pro1613His)
c.353C>A (p.Pro118His)
n.5294C>A
n.460C>A
c.5402C>A (p.Pro1801His)
n.5108C>A
n.5858C>A
n.2630C>A
c.5711C>A (p.Pro1904His)
c.4904C>A (p.Pro1635His)
c.1205C>A (p.Pro402His)
c.5291C>A (p.Pro1764His)
c.4655C>A (p.Pro1552His)
c.1445C>A (p.Pro482His)
 dbSNP
5g.177280653C>GCA362312667NSD1c.4838C>G (p.Pro1613Arg)
c.353C>G (p.Pro118Arg)
n.5294C>G
n.460C>G
c.5402C>G (p.Pro1801Arg)
n.5108C>G
n.5858C>G
n.2630C>G
c.5711C>G (p.Pro1904Arg)
c.4904C>G (p.Pro1635Arg)
c.1205C>G (p.Pro402Arg)
c.5291C>G (p.Pro1764Arg)
c.4655C>G (p.Pro1552Arg)
c.1445C>G (p.Pro482Arg)
5g.177280653C>TCA362312669NSD1c.4838C>T (p.Pro1613Leu)
c.353C>T (p.Pro118Leu)
n.5294C>T
n.460C>T
c.5402C>T (p.Pro1801Leu)
n.5108C>T
n.5858C>T
n.2630C>T
c.5711C>T (p.Pro1904Leu)
c.4904C>T (p.Pro1635Leu)
c.1205C>T (p.Pro402Leu)
c.5291C>T (p.Pro1764Leu)
c.4655C>T (p.Pro1552Leu)
c.1445C>T (p.Pro482Leu)
5g.177280654C>ACA447961376NSD1c.4839C>A (p.Pro1613=)
c.354C>A (p.Pro118=)
n.5295C>A
n.461C>A
c.5403C>A (p.Pro1801=)
n.5109C>A
n.5859C>A
n.2631C>A
c.5712C>A (p.Pro1904=)
c.4905C>A (p.Pro1635=)
c.1206C>A (p.Pro402=)
c.5292C>A (p.Pro1764=)
c.4656C>A (p.Pro1552=)
c.1446C>A (p.Pro482=)
5g.177280654C=CA1603550346NSD1c.4839C= (p.Pro1613=)
c.354C= (p.Pro118=)
n.5295C=
n.461C=
c.5403C= (p.Pro1801=)
n.5109C=
n.5859C=
n.2631C=
c.5712C= (p.Pro1904=)
c.4905C= (p.Pro1635=)
c.1206C= (p.Pro402=)
c.5292C= (p.Pro1764=)
c.4656C= (p.Pro1552=)
c.1446C= (p.Pro482=)
5g.177280654C>GCA447961377NSD1c.4839C>G (p.Pro1613=)
c.354C>G (p.Pro118=)
n.5295C>G
n.461C>G
c.5403C>G (p.Pro1801=)
n.5109C>G
n.5859C>G
n.2631C>G
c.5712C>G (p.Pro1904=)
c.4905C>G (p.Pro1635=)
c.1206C>G (p.Pro402=)
c.5292C>G (p.Pro1764=)
c.4656C>G (p.Pro1552=)
c.1446C>G (p.Pro482=)
5g.177280654C>TCA3577889NSD1c.4839C>T (p.Pro1613=)
c.354C>T (p.Pro118=)
n.5295C>T
n.461C>T
c.5403C>T (p.Pro1801=)
n.5109C>T
n.5859C>T
n.2631C>T
c.5712C>T (p.Pro1904=)
c.4905C>T (p.Pro1635=)
c.1206C>T (p.Pro402=)
c.5292C>T (p.Pro1764=)
c.4656C>T (p.Pro1552=)
c.1446C>T (p.Pro482=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280655T>ACA362312687NSD1c.4840T>A (p.Cys1614Ser)
c.355T>A (p.Cys119Ser)
n.5296T>A
n.462T>A
c.5404T>A (p.Cys1802Ser)
n.5110T>A
n.5860T>A
n.2632T>A
c.5713T>A (p.Cys1905Ser)
c.4906T>A (p.Cys1636Ser)
c.1207T>A (p.Cys403Ser)
c.5293T>A (p.Cys1765Ser)
c.4657T>A (p.Cys1553Ser)
c.1447T>A (p.Cys483Ser)
5g.177280655T>CCA362312681NSD1c.4840T>C (p.Cys1614Arg)
c.355T>C (p.Cys119Arg)
n.5296T>C
n.462T>C
c.5404T>C (p.Cys1802Arg)
n.5110T>C
n.5860T>C
n.2632T>C
c.5713T>C (p.Cys1905Arg)
c.4906T>C (p.Cys1636Arg)
c.1207T>C (p.Cys403Arg)
c.5293T>C (p.Cys1765Arg)
c.4657T>C (p.Cys1553Arg)
c.1447T>C (p.Cys483Arg)
5g.177280655T>GCA362312678NSD1c.4840T>G (p.Cys1614Gly)
c.355T>G (p.Cys119Gly)
n.5296T>G
n.462T>G
c.5404T>G (p.Cys1802Gly)
n.5110T>G
n.5860T>G
n.2632T>G
c.5713T>G (p.Cys1905Gly)
c.4906T>G (p.Cys1636Gly)
c.1207T>G (p.Cys403Gly)
c.5293T>G (p.Cys1765Gly)
c.4657T>G (p.Cys1553Gly)
c.1447T>G (p.Cys483Gly)
5g.177280656G>ACA362312691NSD1c.4841G>A (p.Cys1614Tyr)
c.356G>A (p.Cys119Tyr)
n.5297G>A
n.463G>A
c.5405G>A (p.Cys1802Tyr)
n.5111G>A
n.5861G>A
n.2633G>A
c.5714G>A (p.Cys1905Tyr)
c.4907G>A (p.Cys1636Tyr)
c.1208G>A (p.Cys403Tyr)
c.5294G>A (p.Cys1765Tyr)
c.4658G>A (p.Cys1553Tyr)
c.1448G>A (p.Cys483Tyr)
 ClinVar dbSNP
5g.177280656G>CCA362312694NSD1c.4841G>C (p.Cys1614Ser)
c.356G>C (p.Cys119Ser)
n.5297G>C
n.463G>C
c.5405G>C (p.Cys1802Ser)
n.5111G>C
n.5861G>C
n.2633G>C
c.5714G>C (p.Cys1905Ser)
c.4907G>C (p.Cys1636Ser)
c.1208G>C (p.Cys403Ser)
c.5294G>C (p.Cys1765Ser)
c.4658G>C (p.Cys1553Ser)
c.1448G>C (p.Cys483Ser)
 ClinVar dbSNP
5g.177280656G=CA1603550355NSD1c.4841G= (p.Cys1614=)
c.356G= (p.Cys119=)
n.5297G=
n.463G=
c.5405G= (p.Cys1802=)
n.5111G=
n.5861G=
n.2633G=
c.5714G= (p.Cys1905=)
c.4907G= (p.Cys1636=)
c.1208G= (p.Cys403=)
c.5294G= (p.Cys1765=)
c.4658G= (p.Cys1553=)
c.1448G= (p.Cys483=)
5g.177280656G>TCA362312700NSD1c.4841G>T (p.Cys1614Phe)
c.356G>T (p.Cys119Phe)
n.5297G>T
n.463G>T
c.5405G>T (p.Cys1802Phe)
n.5111G>T
n.5861G>T
n.2633G>T
c.5714G>T (p.Cys1905Phe)
c.4907G>T (p.Cys1636Phe)
c.1208G>T (p.Cys403Phe)
c.5294G>T (p.Cys1765Phe)
c.4658G>T (p.Cys1553Phe)
c.1448G>T (p.Cys483Phe)
5g.177280657T>ACA362312703NSD1c.4842T>A (p.Cys1614Ter)
c.357T>A (p.Cys119Ter)
n.5298T>A
n.464T>A
c.5406T>A (p.Cys1802Ter)
n.5112T>A
n.5862T>A
n.2634T>A
c.5715T>A (p.Cys1905Ter)
c.4908T>A (p.Cys1636Ter)
c.1209T>A (p.Cys403Ter)
c.5295T>A (p.Cys1765Ter)
c.4659T>A (p.Cys1553Ter)
c.1449T>A (p.Cys483Ter)
5g.177280657T>CCA447961388NSD1c.4842T>C (p.Cys1614=)
c.357T>C (p.Cys119=)
n.5298T>C
n.464T>C
c.5406T>C (p.Cys1802=)
n.5112T>C
n.5862T>C
n.2634T>C
c.5715T>C (p.Cys1905=)
c.4908T>C (p.Cys1636=)
c.1209T>C (p.Cys403=)
c.5295T>C (p.Cys1765=)
c.4659T>C (p.Cys1553=)
c.1449T>C (p.Cys483=)
5g.177280657T>GCA362312706NSD1c.4842T>G (p.Cys1614Trp)
c.357T>G (p.Cys119Trp)
n.5298T>G
n.464T>G
c.5406T>G (p.Cys1802Trp)
n.5112T>G
n.5862T>G
n.2634T>G
c.5715T>G (p.Cys1905Trp)
c.4908T>G (p.Cys1636Trp)
c.1209T>G (p.Cys403Trp)
c.5295T>G (p.Cys1765Trp)
c.4659T>G (p.Cys1553Trp)
c.1449T>G (p.Cys483Trp)
5g.177280658G>ACA362312710NSD1c.4843G>A (p.Gly1615Arg)
c.358G>A (p.Gly120Arg)
n.5299G>A
n.465G>A
c.5407G>A (p.Gly1803Arg)
n.5113G>A
n.5863G>A
n.2635G>A
c.5716G>A (p.Gly1906Arg)
c.4909G>A (p.Gly1637Arg)
c.1210G>A (p.Gly404Arg)
c.5296G>A (p.Gly1766Arg)
c.4660G>A (p.Gly1554Arg)
c.1450G>A (p.Gly484Arg)
5g.177280658G>CCA362312712NSD1c.4843G>C (p.Gly1615Arg)
c.358G>C (p.Gly120Arg)
n.5299G>C
n.465G>C
c.5407G>C (p.Gly1803Arg)
n.5113G>C
n.5863G>C
n.2635G>C
c.5716G>C (p.Gly1906Arg)
c.4909G>C (p.Gly1637Arg)
c.1210G>C (p.Gly404Arg)
c.5296G>C (p.Gly1766Arg)
c.4660G>C (p.Gly1554Arg)
c.1450G>C (p.Gly484Arg)
5g.177280658G>TCA362312714NSD1c.4843G>T (p.Gly1615Trp)
c.358G>T (p.Gly120Trp)
n.5299G>T
n.465G>T
c.5407G>T (p.Gly1803Trp)
n.5113G>T
n.5863G>T
n.2635G>T
c.5716G>T (p.Gly1906Trp)
c.4909G>T (p.Gly1637Trp)
c.1210G>T (p.Gly404Trp)
c.5296G>T (p.Gly1766Trp)
c.4660G>T (p.Gly1554Trp)
c.1450G>T (p.Gly484Trp)
5g.177280659G>ACA362312718NSD1c.4844G>A (p.Gly1615Glu)
c.359G>A (p.Gly120Glu)
n.5300G>A
n.466G>A
c.5408G>A (p.Gly1803Glu)
n.5114G>A
n.5864G>A
n.2636G>A
c.5717G>A (p.Gly1906Glu)
c.4910G>A (p.Gly1637Glu)
c.1211G>A (p.Gly404Glu)
c.5297G>A (p.Gly1766Glu)
c.4661G>A (p.Gly1554Glu)
c.1451G>A (p.Gly484Glu)
 dbSNP
5g.177280659G>CCA362312721NSD1c.4844G>C (p.Gly1615Ala)
c.359G>C (p.Gly120Ala)
n.5300G>C
n.466G>C
c.5408G>C (p.Gly1803Ala)
n.5114G>C
n.5864G>C
n.2636G>C
c.5717G>C (p.Gly1906Ala)
c.4910G>C (p.Gly1637Ala)
c.1211G>C (p.Gly404Ala)
c.5297G>C (p.Gly1766Ala)
c.4661G>C (p.Gly1554Ala)
c.1451G>C (p.Gly484Ala)
5g.177280659G>TCA362312723NSD1c.4844G>T (p.Gly1615Val)
c.359G>T (p.Gly120Val)
n.5300G>T
n.466G>T
c.5408G>T (p.Gly1803Val)
n.5114G>T
n.5864G>T
n.2636G>T
c.5717G>T (p.Gly1906Val)
c.4910G>T (p.Gly1637Val)
c.1211G>T (p.Gly404Val)
c.5297G>T (p.Gly1766Val)
c.4661G>T (p.Gly1554Val)
c.1451G>T (p.Gly484Val)
5g.177280660G>ACA3577890NSD1c.4845G>A (p.Gly1615=)
c.360G>A (p.Gly120=)
n.5301G>A
n.467G>A
c.5409G>A (p.Gly1803=)
n.5115G>A
n.5865G>A
n.2637G>A
c.5718G>A (p.Gly1906=)
c.4911G>A (p.Gly1637=)
c.1212G>A (p.Gly404=)
c.5298G>A (p.Gly1766=)
c.4662G>A (p.Gly1554=)
c.1452G>A (p.Gly484=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280660G>CCA447961395NSD1c.4845G>C (p.Gly1615=)
c.360G>C (p.Gly120=)
n.5301G>C
n.467G>C
c.5409G>C (p.Gly1803=)
n.5115G>C
n.5865G>C
n.2637G>C
c.5718G>C (p.Gly1906=)
c.4911G>C (p.Gly1637=)
c.1212G>C (p.Gly404=)
c.5298G>C (p.Gly1766=)
c.4662G>C (p.Gly1554=)
c.1452G>C (p.Gly484=)
5g.177280660G=CA1603550358NSD1c.4845G= (p.Gly1615=)
c.360G= (p.Gly120=)
n.5301G=
n.467G=
c.5409G= (p.Gly1803=)
n.5115G=
n.5865G=
n.2637G=
c.5718G= (p.Gly1906=)
c.4911G= (p.Gly1637=)
c.1212G= (p.Gly404=)
c.5298G= (p.Gly1766=)
c.4662G= (p.Gly1554=)
c.1452G= (p.Gly484=)
5g.177280660G>TCA447961397NSD1c.4845G>T (p.Gly1615=)
c.360G>T (p.Gly120=)
n.5301G>T
n.467G>T
c.5409G>T (p.Gly1803=)
n.5115G>T
n.5865G>T
n.2637G>T
c.5718G>T (p.Gly1906=)
c.4911G>T (p.Gly1637=)
c.1212G>T (p.Gly404=)
c.5298G>T (p.Gly1766=)
c.4662G>T (p.Gly1554=)
c.1452G>T (p.Gly484=)
5g.177280661A>CCA362312740NSD1c.4846A>C (p.Ile1616Leu)
c.361A>C (p.Ile121Leu)
n.5302A>C
n.468A>C
c.5410A>C (p.Ile1804Leu)
n.5116A>C
n.5866A>C
n.2638A>C
c.5719A>C (p.Ile1907Leu)
c.4912A>C (p.Ile1638Leu)
c.1213A>C (p.Ile405Leu)
c.5299A>C (p.Ile1767Leu)
c.4663A>C (p.Ile1555Leu)
c.1453A>C (p.Ile485Leu)
5g.177280661A>GCA362312737NSD1c.4846A>G (p.Ile1616Val)
c.361A>G (p.Ile121Val)
n.5302A>G
n.468A>G
c.5410A>G (p.Ile1804Val)
n.5116A>G
n.5866A>G
n.2638A>G
c.5719A>G (p.Ile1907Val)
c.4912A>G (p.Ile1638Val)
c.1213A>G (p.Ile405Val)
c.5299A>G (p.Ile1767Val)
c.4663A>G (p.Ile1555Val)
c.1453A>G (p.Ile485Val)
 COSMIC COSMIC
5g.177280661A>TCA362312733NSD1c.4846A>T (p.Ile1616Leu)
c.361A>T (p.Ile121Leu)
n.5302A>T
n.468A>T
c.5410A>T (p.Ile1804Leu)
n.5116A>T
n.5866A>T
n.2638A>T
c.5719A>T (p.Ile1907Leu)
c.4912A>T (p.Ile1638Leu)
c.1213A>T (p.Ile405Leu)
c.5299A>T (p.Ile1767Leu)
c.4663A>T (p.Ile1555Leu)
c.1453A>T (p.Ile485Leu)
5g.177280662T>ACA362312743NSD1c.4847T>A (p.Ile1616Lys)
c.362T>A (p.Ile121Lys)
n.5303T>A
n.469T>A
c.5411T>A (p.Ile1804Lys)
n.5117T>A
n.5867T>A
n.2639T>A
c.5720T>A (p.Ile1907Lys)
c.4913T>A (p.Ile1638Lys)
c.1214T>A (p.Ile405Lys)
c.5300T>A (p.Ile1767Lys)
c.4664T>A (p.Ile1555Lys)
c.1454T>A (p.Ile485Lys)
5g.177280662T>CCA362312746NSD1c.4847T>C (p.Ile1616Thr)
c.362T>C (p.Ile121Thr)
n.5303T>C
n.469T>C
c.5411T>C (p.Ile1804Thr)
n.5117T>C
n.5867T>C
n.2639T>C
c.5720T>C (p.Ile1907Thr)
c.4913T>C (p.Ile1638Thr)
c.1214T>C (p.Ile405Thr)
c.5300T>C (p.Ile1767Thr)
c.4664T>C (p.Ile1555Thr)
c.1454T>C (p.Ile485Thr)
 gnomAD v4
5g.177280662T>GCA362312748NSD1c.4847T>G (p.Ile1616Arg)
c.362T>G (p.Ile121Arg)
n.5303T>G
n.469T>G
c.5411T>G (p.Ile1804Arg)
n.5117T>G
n.5867T>G
n.2639T>G
c.5720T>G (p.Ile1907Arg)
c.4913T>G (p.Ile1638Arg)
c.1214T>G (p.Ile405Arg)
c.5300T>G (p.Ile1767Arg)
c.4664T>G (p.Ile1555Arg)
c.1454T>G (p.Ile485Arg)
5g.177280662T=CA1603550363NSD1c.4847T= (p.Ile1616=)
c.362T= (p.Ile121=)
n.5303T=
n.469T=
c.5411T= (p.Ile1804=)
n.5117T=
n.5867T=
n.2639T=
c.5720T= (p.Ile1907=)
c.4913T= (p.Ile1638=)
c.1214T= (p.Ile405=)
c.5300T= (p.Ile1767=)
c.4664T= (p.Ile1555=)
c.1454T= (p.Ile485=)
5g.177280663A=CA1603550371NSD1c.4848A= (p.Ile1616=)
c.363A= (p.Ile121=)
n.5304A=
n.470A=
c.5412A= (p.Ile1804=)
n.5118A=
n.5868A=
n.2640A=
c.5721A= (p.Ile1907=)
c.4914A= (p.Ile1638=)
c.1215A= (p.Ile405=)
c.5301A= (p.Ile1767=)
c.4665A= (p.Ile1555=)
c.1455A= (p.Ile485=)
5g.177280663A>CCA447961407NSD1c.4848A>C (p.Ile1616=)
c.363A>C (p.Ile121=)
n.5304A>C
n.470A>C
c.5412A>C (p.Ile1804=)
n.5118A>C
n.5868A>C
n.2640A>C
c.5721A>C (p.Ile1907=)
c.4914A>C (p.Ile1638=)
c.1215A>C (p.Ile405=)
c.5301A>C (p.Ile1767=)
c.4665A>C (p.Ile1555=)
c.1455A>C (p.Ile485=)
5g.177280663A>GCA362312753NSD1c.4848A>G (p.Ile1616Met)
c.363A>G (p.Ile121Met)
n.5304A>G
n.470A>G
c.5412A>G (p.Ile1804Met)
n.5118A>G
n.5868A>G
n.2640A>G
c.5721A>G (p.Ile1907Met)
c.4914A>G (p.Ile1638Met)
c.1215A>G (p.Ile405Met)
c.5301A>G (p.Ile1767Met)
c.4665A>G (p.Ile1555Met)
c.1455A>G (p.Ile485Met)
5g.177280663A>TCA132847217NSD1c.4848A>T (p.Ile1616=)
c.363A>T (p.Ile121=)
n.5304A>T
n.470A>T
c.5412A>T (p.Ile1804=)
n.5118A>T
n.5868A>T
n.2640A>T
c.5721A>T (p.Ile1907=)
c.4914A>T (p.Ile1638=)
c.1215A>T (p.Ile405=)
c.5301A>T (p.Ile1767=)
c.4665A>T (p.Ile1555=)
c.1455A>T (p.Ile485=)
 dbSNP gnomAD v4
5g.177280663dupCA915942758NSD1c.4848dup (p.Asp1617ArgfsTer3)
c.363dup (p.Asp122ArgfsTer3)
n.5304dup
n.470dup
c.5412dup (p.Asp1805ArgfsTer3)
n.5118dup
n.5868dup
n.2640dup
c.5721dup (p.Asp1908ArgfsTer3)
c.4914dup (p.Asp1639ArgfsTer3)
c.1215dup (p.Asp406ArgfsTer3)
c.5301dup (p.Asp1768ArgfsTer3)
c.4665dup (p.Asp1556ArgfsTer3)
c.1455dup (p.Asp486ArgfsTer3)
 ClinVar dbSNP
5g.177280664G>ACA362312760NSD1c.4849G>A (p.Asp1617Asn)
c.364G>A (p.Asp122Asn)
n.5305G>A
n.471G>A
c.5413G>A (p.Asp1805Asn)
n.5119G>A
n.5869G>A
n.2641G>A
c.5722G>A (p.Asp1908Asn)
c.4915G>A (p.Asp1639Asn)
c.1216G>A (p.Asp406Asn)
c.5302G>A (p.Asp1768Asn)
c.4666G>A (p.Asp1556Asn)
c.1456G>A (p.Asp486Asn)
5g.177280664G>CCA362312762NSD1c.4849G>C (p.Asp1617His)
c.364G>C (p.Asp122His)
n.5305G>C
n.471G>C
c.5413G>C (p.Asp1805His)
n.5119G>C
n.5869G>C
n.2641G>C
c.5722G>C (p.Asp1908His)
c.4915G>C (p.Asp1639His)
c.1216G>C (p.Asp406His)
c.5302G>C (p.Asp1768His)
c.4666G>C (p.Asp1556His)
c.1456G>C (p.Asp486His)
 gnomAD v4
5g.177280664G>TCA362312766NSD1c.4849G>T (p.Asp1617Tyr)
c.364G>T (p.Asp122Tyr)
n.5305G>T
n.471G>T
c.5413G>T (p.Asp1805Tyr)
n.5119G>T
n.5869G>T
n.2641G>T
c.5722G>T (p.Asp1908Tyr)
c.4915G>T (p.Asp1639Tyr)
c.1216G>T (p.Asp406Tyr)
c.5302G>T (p.Asp1768Tyr)
c.4666G>T (p.Asp1556Tyr)
c.1456G>T (p.Asp486Tyr)
5g.177280665A>CCA362312771NSD1c.4850A>C (p.Asp1617Ala)
c.365A>C (p.Asp122Ala)
n.5306A>C
n.472A>C
c.5414A>C (p.Asp1805Ala)
n.5120A>C
n.5870A>C
n.2642A>C
c.5723A>C (p.Asp1908Ala)
c.4916A>C (p.Asp1639Ala)
c.1217A>C (p.Asp406Ala)
c.5303A>C (p.Asp1768Ala)
c.4667A>C (p.Asp1556Ala)
c.1457A>C (p.Asp486Ala)
5g.177280665A>GCA362312774NSD1c.4850A>G (p.Asp1617Gly)
c.365A>G (p.Asp122Gly)
n.5306A>G
n.472A>G
c.5414A>G (p.Asp1805Gly)
n.5120A>G
n.5870A>G
n.2642A>G
c.5723A>G (p.Asp1908Gly)
c.4916A>G (p.Asp1639Gly)
c.1217A>G (p.Asp406Gly)
c.5303A>G (p.Asp1768Gly)
c.4667A>G (p.Asp1556Gly)
c.1457A>G (p.Asp486Gly)
5g.177280665A>TCA362312778NSD1c.4850A>T (p.Asp1617Val)
c.365A>T (p.Asp122Val)
n.5306A>T
n.472A>T
c.5414A>T (p.Asp1805Val)
n.5120A>T
n.5870A>T
n.2642A>T
c.5723A>T (p.Asp1908Val)
c.4916A>T (p.Asp1639Val)
c.1217A>T (p.Asp406Val)
c.5303A>T (p.Asp1768Val)
c.4667A>T (p.Asp1556Val)
c.1457A>T (p.Asp486Val)
5g.177280665_177280666delCA913108630NSD1c.4850_4851del (p.Asp1617ValfsTer2)
c.365_366del (p.Asp122ValfsTer2)
n.5306_5307del
n.472_473del
c.5414_5415del (p.Asp1805ValfsTer2)
n.5120_5121del
n.5870_5871del
n.2642_2643del
c.5723_5724del (p.Asp1908ValfsTer2)
c.4916_4917del (p.Asp1639ValfsTer2)
c.1217_1218del (p.Asp406ValfsTer2)
c.5303_5304del (p.Asp1768ValfsTer2)
c.4667_4668del (p.Asp1556ValfsTer2)
c.1457_1458del (p.Asp486ValfsTer2)
5g.177280665_177280666delinsACCA1603550374NSD1c.4850_4851delinsAC (p.Asp1617=)
c.365_366delinsAC (p.Asp122=)
n.5306_5307delinsAC
n.472_473delinsAC
c.5414_5415delinsAC (p.Asp1805=)
n.5120_5121delinsAC
n.5870_5871delinsAC
n.2642_2643delinsAC
c.5723_5724delinsAC (p.Asp1908=)
c.4916_4917delinsAC (p.Asp1639=)
c.1217_1218delinsAC (p.Asp406=)
c.5303_5304delinsAC (p.Asp1768=)
c.4667_4668delinsAC (p.Asp1556=)
c.1457_1458delinsAC (p.Asp486=)
5g.177280666delCA658822920NSD1c.4851del (p.Ser1618LeufsTer?)
c.366del (p.Ser123LeufsTer?)
n.5307del
n.473del
c.5415del (p.Ser1806LeufsTer?)
n.5121del
n.5871del
n.2643del
c.5724del (p.Ser1909LeufsTer?)
c.4917del (p.Ser1640LeufsTer?)
c.1218del (p.Ser407LeufsTer?)
c.5304del (p.Ser1769LeufsTer?)
c.4668del (p.Ser1557LeufsTer?)
c.1458del (p.Ser487LeufsTer?)
 ClinVar dbSNP
5g.177280666C>ACA362312782NSD1c.4851C>A (p.Asp1617Glu)
c.366C>A (p.Asp122Glu)
n.5307C>A
n.473C>A
c.5415C>A (p.Asp1805Glu)
n.5121C>A
n.5871C>A
n.2643C>A
c.5724C>A (p.Asp1908Glu)
c.4917C>A (p.Asp1639Glu)
c.1218C>A (p.Asp406Glu)
c.5304C>A (p.Asp1768Glu)
c.4668C>A (p.Asp1556Glu)
c.1458C>A (p.Asp486Glu)
5g.177280666C>GCA362312785NSD1c.4851C>G (p.Asp1617Glu)
c.366C>G (p.Asp122Glu)
n.5307C>G
n.473C>G
c.5415C>G (p.Asp1805Glu)
n.5121C>G
n.5871C>G
n.2643C>G
c.5724C>G (p.Asp1908Glu)
c.4917C>G (p.Asp1639Glu)
c.1218C>G (p.Asp406Glu)
c.5304C>G (p.Asp1768Glu)
c.4668C>G (p.Asp1556Glu)
c.1458C>G (p.Asp486Glu)
 gnomAD v4
5g.177280666C>TCA447961422NSD1c.4851C>T (p.Asp1617=)
c.366C>T (p.Asp122=)
n.5307C>T
n.473C>T
c.5415C>T (p.Asp1805=)
n.5121C>T
n.5871C>T
n.2643C>T
c.5724C>T (p.Asp1908=)
c.4917C>T (p.Asp1639=)
c.1218C>T (p.Asp406=)
c.5304C>T (p.Asp1768=)
c.4668C>T (p.Asp1556=)
c.1458C>T (p.Asp486=)
5g.177280668_177280669delCA2580614821NSD1c.4853_4854del (p.Ser1618Ter)
c.368_369del (p.Ser123Ter)
n.5309_5310del
n.475_476del
c.5417_5418del (p.Ser1806Ter)
n.5123_5124del
n.5873_5874del
n.2645_2646del
c.5726_5727del (p.Ser1909Ter)
c.4919_4920del (p.Ser1640Ter)
c.1220_1221del (p.Ser407Ter)
c.5306_5307del (p.Ser1769Ter)
c.4670_4671del (p.Ser1557Ter)
c.1460_1461del (p.Ser487Ter)
 ClinVar dbSNP
5g.177280667T>ACA362312804NSD1c.4852T>A (p.Ser1618Thr)
c.367T>A (p.Ser123Thr)
n.5308T>A
n.474T>A
c.5416T>A (p.Ser1806Thr)
n.5122T>A
n.5872T>A
n.2644T>A
c.5725T>A (p.Ser1909Thr)
c.4918T>A (p.Ser1640Thr)
c.1219T>A (p.Ser407Thr)
c.5305T>A (p.Ser1769Thr)
c.4669T>A (p.Ser1557Thr)
c.1459T>A (p.Ser487Thr)
5g.177280667T>CCA362312807NSD1c.4852T>C (p.Ser1618Pro)
c.367T>C (p.Ser123Pro)
n.5308T>C
n.474T>C
c.5416T>C (p.Ser1806Pro)
n.5122T>C
n.5872T>C
n.2644T>C
c.5725T>C (p.Ser1909Pro)
c.4918T>C (p.Ser1640Pro)
c.1219T>C (p.Ser407Pro)
c.5305T>C (p.Ser1769Pro)
c.4669T>C (p.Ser1557Pro)
c.1459T>C (p.Ser487Pro)
 ClinVar
5g.177280667T>GCA362312791NSD1c.4852T>G (p.Ser1618Ala)
c.367T>G (p.Ser123Ala)
n.5308T>G
n.474T>G
c.5416T>G (p.Ser1806Ala)
n.5122T>G
n.5872T>G
n.2644T>G
c.5725T>G (p.Ser1909Ala)
c.4918T>G (p.Ser1640Ala)
c.1219T>G (p.Ser407Ala)
c.5305T>G (p.Ser1769Ala)
c.4669T>G (p.Ser1557Ala)
c.1459T>G (p.Ser487Ala)

Number of alleles fetched