Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177280753C>ACA447961398NSD1c.4938C>A (p.Ser1646=)
c.453C>A (p.Ser151=)
n.5394C>A
n.560C>A
c.5502C>A (p.Ser1834=)
n.5208C>A
n.5958C>A
n.2730C>A
c.5811C>A (p.Ser1937=)
c.5004C>A (p.Ser1668=)
c.1305C>A (p.Ser435=)
c.5391C>A (p.Ser1797=)
c.4755C>A (p.Ser1585=)
c.1545C>A (p.Ser515=)
5g.177280753C>GCA447961400NSD1c.4938C>G (p.Ser1646=)
c.453C>G (p.Ser151=)
n.5394C>G
n.560C>G
c.5502C>G (p.Ser1834=)
n.5208C>G
n.5958C>G
n.2730C>G
c.5811C>G (p.Ser1937=)
c.5004C>G (p.Ser1668=)
c.1305C>G (p.Ser435=)
c.5391C>G (p.Ser1797=)
c.4755C>G (p.Ser1585=)
c.1545C>G (p.Ser515=)
5g.177280753C>TCA447961399NSD1c.4938C>T (p.Ser1646=)
c.453C>T (p.Ser151=)
n.5394C>T
n.560C>T
c.5502C>T (p.Ser1834=)
n.5208C>T
n.5958C>T
n.2730C>T
c.5811C>T (p.Ser1937=)
c.5004C>T (p.Ser1668=)
c.1305C>T (p.Ser435=)
c.5391C>T (p.Ser1797=)
c.4755C>T (p.Ser1585=)
c.1545C>T (p.Ser515=)
 gnomAD v4
5g.177280754A=CA1603550583NSD1c.4939A= (p.Lys1647=)
c.454A= (p.Lys152=)
n.5395A=
n.561A=
c.5503A= (p.Lys1835=)
n.5209A=
n.5959A=
n.2731A=
c.5812A= (p.Lys1938=)
c.5005A= (p.Lys1669=)
c.1306A= (p.Lys436=)
c.5392A= (p.Lys1798=)
c.4756A= (p.Lys1586=)
c.1546A= (p.Lys516=)
5g.177280754A>CCA362313459NSD1c.4939A>C (p.Lys1647Gln)
c.454A>C (p.Lys152Gln)
n.5395A>C
n.561A>C
c.5503A>C (p.Lys1835Gln)
n.5209A>C
n.5959A>C
n.2731A>C
c.5812A>C (p.Lys1938Gln)
c.5005A>C (p.Lys1669Gln)
c.1306A>C (p.Lys436Gln)
c.5392A>C (p.Lys1798Gln)
c.4756A>C (p.Lys1586Gln)
c.1546A>C (p.Lys516Gln)
5g.177280754A>GCA362313457NSD1c.4939A>G (p.Lys1647Glu)
c.454A>G (p.Lys152Glu)
n.5395A>G
n.561A>G
c.5503A>G (p.Lys1835Glu)
n.5209A>G
n.5959A>G
n.2731A>G
c.5812A>G (p.Lys1938Glu)
c.5005A>G (p.Lys1669Glu)
c.1306A>G (p.Lys436Glu)
c.5392A>G (p.Lys1798Glu)
c.4756A>G (p.Lys1586Glu)
c.1546A>G (p.Lys516Glu)
5g.177280754A>TCA362313455NSD1c.4939A>T (p.Lys1647Ter)
c.454A>T (p.Lys152Ter)
n.5395A>T
n.561A>T
c.5503A>T (p.Lys1835Ter)
n.5209A>T
n.5959A>T
n.2731A>T
c.5812A>T (p.Lys1938Ter)
c.5005A>T (p.Lys1669Ter)
c.1306A>T (p.Lys436Ter)
c.5392A>T (p.Lys1798Ter)
c.4756A>T (p.Lys1586Ter)
c.1546A>T (p.Lys516Ter)
 ClinVar dbSNP
5g.177280755A=CA1603550587NSD1c.4940A= (p.Lys1647=)
c.455A= (p.Lys152=)
n.5396A=
c.5504A= (p.Lys1835=)
n.5210A=
n.5960A=
n.2732A=
c.5813A= (p.Lys1938=)
c.5006A= (p.Lys1669=)
c.1307A= (p.Lys436=)
c.5393A= (p.Lys1798=)
c.4757A= (p.Lys1586=)
c.1547A= (p.Lys516=)
5g.177280755A>CCA362313468NSD1c.4940A>C (p.Lys1647Thr)
c.455A>C (p.Lys152Thr)
n.5396A>C
c.5504A>C (p.Lys1835Thr)
n.5210A>C
n.5960A>C
n.2732A>C
c.5813A>C (p.Lys1938Thr)
c.5006A>C (p.Lys1669Thr)
c.1307A>C (p.Lys436Thr)
c.5393A>C (p.Lys1798Thr)
c.4757A>C (p.Lys1586Thr)
c.1547A>C (p.Lys516Thr)
5g.177280755A>GCA362313472NSD1c.4940A>G (p.Lys1647Arg)
c.455A>G (p.Lys152Arg)
n.5396A>G
c.5504A>G (p.Lys1835Arg)
n.5210A>G
n.5960A>G
n.2732A>G
c.5813A>G (p.Lys1938Arg)
c.5006A>G (p.Lys1669Arg)
c.1307A>G (p.Lys436Arg)
c.5393A>G (p.Lys1798Arg)
c.4757A>G (p.Lys1586Arg)
c.1547A>G (p.Lys516Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.177280755A>TCA362313474NSD1c.4940A>T (p.Lys1647Met)
c.455A>T (p.Lys152Met)
n.5396A>T
c.5504A>T (p.Lys1835Met)
n.5210A>T
n.5960A>T
n.2732A>T
c.5813A>T (p.Lys1938Met)
c.5006A>T (p.Lys1669Met)
c.1307A>T (p.Lys436Met)
c.5393A>T (p.Lys1798Met)
c.4757A>T (p.Lys1586Met)
c.1547A>T (p.Lys516Met)
 dbSNP gnomAD v4
5g.177280756G>ACA447961408NSD1c.4941G>A (p.Lys1647=)
c.456G>A (p.Lys152=)
n.5397G>A
c.5505G>A (p.Lys1835=)
n.5211G>A
n.5961G>A
n.2733G>A
c.5814G>A (p.Lys1938=)
c.5007G>A (p.Lys1669=)
c.1308G>A (p.Lys436=)
c.5394G>A (p.Lys1798=)
c.4758G>A (p.Lys1586=)
c.1548G>A (p.Lys516=)
 dbSNP gnomAD v3 gnomAD v4
5g.177280756G>CCA362313477NSD1c.4941G>C (p.Lys1647Asn)
c.456G>C (p.Lys152Asn)
n.5397G>C
c.5505G>C (p.Lys1835Asn)
n.5211G>C
n.5961G>C
n.2733G>C
c.5814G>C (p.Lys1938Asn)
c.5007G>C (p.Lys1669Asn)
c.1308G>C (p.Lys436Asn)
c.5394G>C (p.Lys1798Asn)
c.4758G>C (p.Lys1586Asn)
c.1548G>C (p.Lys516Asn)
5g.177280756G=CA1603550590NSD1c.4941G= (p.Lys1647=)
c.456G= (p.Lys152=)
n.5397G=
c.5505G= (p.Lys1835=)
n.5211G=
n.5961G=
n.2733G=
c.5814G= (p.Lys1938=)
c.5007G= (p.Lys1669=)
c.1308G= (p.Lys436=)
c.5394G= (p.Lys1798=)
c.4758G= (p.Lys1586=)
c.1548G= (p.Lys516=)
5g.177280756G>TCA362313479NSD1c.4941G>T (p.Lys1647Asn)
c.456G>T (p.Lys152Asn)
n.5397G>T
c.5505G>T (p.Lys1835Asn)
n.5211G>T
n.5961G>T
n.2733G>T
c.5814G>T (p.Lys1938Asn)
c.5007G>T (p.Lys1669Asn)
c.1308G>T (p.Lys436Asn)
c.5394G>T (p.Lys1798Asn)
c.4758G>T (p.Lys1586Asn)
c.1548G>T (p.Lys516Asn)
5g.177280757C>ACA362313483NSD1c.4942C>A (p.Arg1648Ser)
c.457C>A (p.Arg153Ser)
n.5398C>A
c.5506C>A (p.Arg1836Ser)
n.5212C>A
n.5962C>A
n.2734C>A
c.5815C>A (p.Arg1939Ser)
c.5008C>A (p.Arg1670Ser)
c.1309C>A (p.Arg437Ser)
c.5395C>A (p.Arg1799Ser)
c.4759C>A (p.Arg1587Ser)
c.1549C>A (p.Arg517Ser)
5g.177280757C=CA1603550593NSD1c.4942C= (p.Arg1648=)
c.457C= (p.Arg153=)
n.5398C=
c.5506C= (p.Arg1836=)
n.5212C=
n.5962C=
n.2734C=
c.5815C= (p.Arg1939=)
c.5008C= (p.Arg1670=)
c.1309C= (p.Arg437=)
c.5395C= (p.Arg1799=)
c.4759C= (p.Arg1587=)
c.1549C= (p.Arg517=)
5g.177280757C>GCA362313486NSD1c.4942C>G (p.Arg1648Gly)
c.457C>G (p.Arg153Gly)
n.5398C>G
c.5506C>G (p.Arg1836Gly)
n.5212C>G
n.5962C>G
n.2734C>G
c.5815C>G (p.Arg1939Gly)
c.5008C>G (p.Arg1670Gly)
c.1309C>G (p.Arg437Gly)
c.5395C>G (p.Arg1799Gly)
c.4759C>G (p.Arg1587Gly)
c.1549C>G (p.Arg517Gly)
5g.177280757C>TCA16618182NSD1c.4942C>T (p.Arg1648Cys)
c.457C>T (p.Arg153Cys)
n.5398C>T
c.5506C>T (p.Arg1836Cys)
n.5212C>T
n.5962C>T
n.2734C>T
c.5815C>T (p.Arg1939Cys)
c.5008C>T (p.Arg1670Cys)
c.1309C>T (p.Arg437Cys)
c.5395C>T (p.Arg1799Cys)
c.4759C>T (p.Arg1587Cys)
c.1549C>T (p.Arg517Cys)
 ClinVar dbSNP
5g.177280758G>ACA362313490NSD1c.4943G>A (p.Arg1648His)
c.458G>A (p.Arg153His)
n.5399G>A
c.5507G>A (p.Arg1836His)
n.5213G>A
n.5963G>A
n.2735G>A
c.5816G>A (p.Arg1939His)
c.5009G>A (p.Arg1670His)
c.1310G>A (p.Arg437His)
c.5396G>A (p.Arg1799His)
c.4760G>A (p.Arg1587His)
c.1550G>A (p.Arg517His)
 dbSNP
5g.177280758G>CCA362313493NSD1c.4943G>C (p.Arg1648Pro)
c.458G>C (p.Arg153Pro)
n.5399G>C
c.5507G>C (p.Arg1836Pro)
n.5213G>C
n.5963G>C
n.2735G>C
c.5816G>C (p.Arg1939Pro)
c.5009G>C (p.Arg1670Pro)
c.1310G>C (p.Arg437Pro)
c.5396G>C (p.Arg1799Pro)
c.4760G>C (p.Arg1587Pro)
c.1550G>C (p.Arg517Pro)
5g.177280758G>TCA362313494NSD1c.4943G>T (p.Arg1648Leu)
c.458G>T (p.Arg153Leu)
n.5399G>T
c.5507G>T (p.Arg1836Leu)
n.5213G>T
n.5963G>T
n.2735G>T
c.5816G>T (p.Arg1939Leu)
c.5009G>T (p.Arg1670Leu)
c.1310G>T (p.Arg437Leu)
c.5396G>T (p.Arg1799Leu)
c.4760G>T (p.Arg1587Leu)
c.1550G>T (p.Arg517Leu)
 ClinVar gnomAD v4
5g.177280759C>ACA447961413NSD1c.4944C>A (p.Arg1648=)
c.459C>A (p.Arg153=)
n.5400C>A
c.5508C>A (p.Arg1836=)
n.5214C>A
n.5964C>A
n.2736C>A
c.5817C>A (p.Arg1939=)
c.5010C>A (p.Arg1670=)
c.1311C>A (p.Arg437=)
c.5397C>A (p.Arg1799=)
c.4761C>A (p.Arg1587=)
c.1551C>A (p.Arg517=)
5g.177280759C>GCA447961414NSD1c.4944C>G (p.Arg1648=)
c.459C>G (p.Arg153=)
n.5400C>G
c.5508C>G (p.Arg1836=)
n.5214C>G
n.5964C>G
n.2736C>G
c.5817C>G (p.Arg1939=)
c.5010C>G (p.Arg1670=)
c.1311C>G (p.Arg437=)
c.5397C>G (p.Arg1799=)
c.4761C>G (p.Arg1587=)
c.1551C>G (p.Arg517=)
5g.177280759C>TCA447961415NSD1c.4944C>T (p.Arg1648=)
c.459C>T (p.Arg153=)
n.5400C>T
c.5508C>T (p.Arg1836=)
n.5214C>T
n.5964C>T
n.2736C>T
c.5817C>T (p.Arg1939=)
c.5010C>T (p.Arg1670=)
c.1311C>T (p.Arg437=)
c.5397C>T (p.Arg1799=)
c.4761C>T (p.Arg1587=)
c.1551C>T (p.Arg517=)
 gnomAD v4
5g.177280760C>ACA362313497NSD1c.4945C>A (p.Gln1649Lys)
c.460C>A (p.Gln154Lys)
n.5401C>A
c.5509C>A (p.Gln1837Lys)
n.5215C>A
n.5965C>A
n.2737C>A
c.5818C>A (p.Gln1940Lys)
c.5011C>A (p.Gln1671Lys)
c.1312C>A (p.Gln438Lys)
c.5398C>A (p.Gln1800Lys)
c.4762C>A (p.Gln1588Lys)
c.1552C>A (p.Gln518Lys)
5g.177280760C>GCA362313499NSD1c.4945C>G (p.Gln1649Glu)
c.460C>G (p.Gln154Glu)
n.5401C>G
c.5509C>G (p.Gln1837Glu)
n.5215C>G
n.5965C>G
n.2737C>G
c.5818C>G (p.Gln1940Glu)
c.5011C>G (p.Gln1671Glu)
c.1312C>G (p.Gln438Glu)
c.5398C>G (p.Gln1800Glu)
c.4762C>G (p.Gln1588Glu)
c.1552C>G (p.Gln518Glu)
 dbSNP
5g.177280760C>TCA362313501NSD1c.4945C>T (p.Gln1649Ter)
c.460C>T (p.Gln154Ter)
n.5401C>T
c.5509C>T (p.Gln1837Ter)
n.5215C>T
n.5965C>T
n.2737C>T
c.5818C>T (p.Gln1940Ter)
c.5011C>T (p.Gln1671Ter)
c.1312C>T (p.Gln438Ter)
c.5398C>T (p.Gln1800Ter)
c.4762C>T (p.Gln1588Ter)
c.1552C>T (p.Gln518Ter)
5g.177280761A>CCA362313511NSD1c.4946A>C (p.Gln1649Pro)
c.461A>C (p.Gln154Pro)
n.5402A>C
c.5510A>C (p.Gln1837Pro)
n.5216A>C
n.5966A>C
n.2738A>C
c.5819A>C (p.Gln1940Pro)
c.5012A>C (p.Gln1671Pro)
c.1313A>C (p.Gln438Pro)
c.5399A>C (p.Gln1800Pro)
c.4763A>C (p.Gln1588Pro)
c.1553A>C (p.Gln518Pro)
5g.177280761A>GCA362313513NSD1c.4946A>G (p.Gln1649Arg)
c.461A>G (p.Gln154Arg)
n.5402A>G
c.5510A>G (p.Gln1837Arg)
n.5216A>G
n.5966A>G
n.2738A>G
c.5819A>G (p.Gln1940Arg)
c.5012A>G (p.Gln1671Arg)
c.1313A>G (p.Gln438Arg)
c.5399A>G (p.Gln1800Arg)
c.4763A>G (p.Gln1588Arg)
c.1553A>G (p.Gln518Arg)
 gnomAD v4
5g.177280761A>TCA362313504NSD1c.4946A>T (p.Gln1649Leu)
c.461A>T (p.Gln154Leu)
n.5402A>T
c.5510A>T (p.Gln1837Leu)
n.5216A>T
n.5966A>T
n.2738A>T
c.5819A>T (p.Gln1940Leu)
c.5012A>T (p.Gln1671Leu)
c.1313A>T (p.Gln438Leu)
c.5399A>T (p.Gln1800Leu)
c.4763A>T (p.Gln1588Leu)
c.1553A>T (p.Gln518Leu)
5g.177280762A>CCA362313516NSD1c.4947A>C (p.Gln1649His)
c.462A>C (p.Gln154His)
n.5403A>C
c.5511A>C (p.Gln1837His)
n.5217A>C
n.5967A>C
n.2739A>C
c.5820A>C (p.Gln1940His)
c.5013A>C (p.Gln1671His)
c.1314A>C (p.Gln438His)
c.5400A>C (p.Gln1800His)
c.4764A>C (p.Gln1588His)
c.1554A>C (p.Gln518His)
5g.177280762A>GCA447961420NSD1c.4947A>G (p.Gln1649=)
c.462A>G (p.Gln154=)
n.5403A>G
c.5511A>G (p.Gln1837=)
n.5217A>G
n.5967A>G
n.2739A>G
c.5820A>G (p.Gln1940=)
c.5013A>G (p.Gln1671=)
c.1314A>G (p.Gln438=)
c.5400A>G (p.Gln1800=)
c.4764A>G (p.Gln1588=)
c.1554A>G (p.Gln518=)
 gnomAD v4
5g.177280762A>TCA362313518NSD1c.4947A>T (p.Gln1649His)
c.462A>T (p.Gln154His)
n.5403A>T
c.5511A>T (p.Gln1837His)
n.5217A>T
n.5967A>T
n.2739A>T
c.5820A>T (p.Gln1940His)
c.5013A>T (p.Gln1671His)
c.1314A>T (p.Gln438His)
c.5400A>T (p.Gln1800His)
c.4764A>T (p.Gln1588His)
c.1554A>T (p.Gln518His)
5g.177280763T>ACA362313521NSD1c.4948T>A (p.Tyr1650Asn)
c.463T>A (p.Tyr155Asn)
n.5404T>A
c.5512T>A (p.Tyr1838Asn)
n.5218T>A
n.5968T>A
n.2740T>A
c.5821T>A (p.Tyr1941Asn)
c.5014T>A (p.Tyr1672Asn)
c.1315T>A (p.Tyr439Asn)
c.5401T>A (p.Tyr1801Asn)
c.4765T>A (p.Tyr1589Asn)
c.1555T>A (p.Tyr519Asn)
5g.177280763T>CCA362313523NSD1c.4948T>C (p.Tyr1650His)
c.463T>C (p.Tyr155His)
n.5404T>C
c.5512T>C (p.Tyr1838His)
n.5218T>C
n.5968T>C
n.2740T>C
c.5821T>C (p.Tyr1941His)
c.5014T>C (p.Tyr1672His)
c.1315T>C (p.Tyr439His)
c.5401T>C (p.Tyr1801His)
c.4765T>C (p.Tyr1589His)
c.1555T>C (p.Tyr519His)
 gnomAD v4
5g.177280763T>GCA362313525NSD1c.4948T>G (p.Tyr1650Asp)
c.463T>G (p.Tyr155Asp)
n.5404T>G
c.5512T>G (p.Tyr1838Asp)
n.5218T>G
n.5968T>G
n.2740T>G
c.5821T>G (p.Tyr1941Asp)
c.5014T>G (p.Tyr1672Asp)
c.1315T>G (p.Tyr439Asp)
c.5401T>G (p.Tyr1801Asp)
c.4765T>G (p.Tyr1589Asp)
c.1555T>G (p.Tyr519Asp)
5g.177280764A>CCA362313527NSD1c.4949A>C (p.Tyr1650Ser)
c.464A>C (p.Tyr155Ser)
n.5405A>C
c.5513A>C (p.Tyr1838Ser)
n.5219A>C
n.5969A>C
n.2741A>C
c.5822A>C (p.Tyr1941Ser)
c.5015A>C (p.Tyr1672Ser)
c.1316A>C (p.Tyr439Ser)
c.5402A>C (p.Tyr1801Ser)
c.4766A>C (p.Tyr1589Ser)
c.1556A>C (p.Tyr519Ser)
5g.177280764A>GCA362313528NSD1c.4949A>G (p.Tyr1650Cys)
c.464A>G (p.Tyr155Cys)
n.5405A>G
c.5513A>G (p.Tyr1838Cys)
n.5219A>G
n.5969A>G
n.2741A>G
c.5822A>G (p.Tyr1941Cys)
c.5015A>G (p.Tyr1672Cys)
c.1316A>G (p.Tyr439Cys)
c.5402A>G (p.Tyr1801Cys)
c.4766A>G (p.Tyr1589Cys)
c.1556A>G (p.Tyr519Cys)
5g.177280764A>TCA362313532NSD1c.4949A>T (p.Tyr1650Phe)
c.464A>T (p.Tyr155Phe)
n.5405A>T
c.5513A>T (p.Tyr1838Phe)
n.5219A>T
n.5969A>T
n.2741A>T
c.5822A>T (p.Tyr1941Phe)
c.5015A>T (p.Tyr1672Phe)
c.1316A>T (p.Tyr439Phe)
c.5402A>T (p.Tyr1801Phe)
c.4766A>T (p.Tyr1589Phe)
c.1556A>T (p.Tyr519Phe)
5g.177280765T>ACA362313536NSD1c.4950T>A (p.Tyr1650Ter)
c.465T>A (p.Tyr155Ter)
n.5406T>A
c.5514T>A (p.Tyr1838Ter)
n.5220T>A
n.5970T>A
n.2742T>A
c.5823T>A (p.Tyr1941Ter)
c.5016T>A (p.Tyr1672Ter)
c.1317T>A (p.Tyr439Ter)
c.5403T>A (p.Tyr1801Ter)
c.4767T>A (p.Tyr1589Ter)
c.1557T>A (p.Tyr519Ter)
5g.177280765T>CCA447961433NSD1c.4950T>C (p.Tyr1650=)
c.465T>C (p.Tyr155=)
n.5406T>C
c.5514T>C (p.Tyr1838=)
n.5220T>C
n.5970T>C
n.2742T>C
c.5823T>C (p.Tyr1941=)
c.5016T>C (p.Tyr1672=)
c.1317T>C (p.Tyr439=)
c.5403T>C (p.Tyr1801=)
c.4767T>C (p.Tyr1589=)
c.1557T>C (p.Tyr519=)
5g.177280765T>GCA362313539NSD1c.4950T>G (p.Tyr1650Ter)
c.465T>G (p.Tyr155Ter)
n.5406T>G
c.5514T>G (p.Tyr1838Ter)
n.5220T>G
n.5970T>G
n.2742T>G
c.5823T>G (p.Tyr1941Ter)
c.5016T>G (p.Tyr1672Ter)
c.1317T>G (p.Tyr439Ter)
c.5403T>G (p.Tyr1801Ter)
c.4767T>G (p.Tyr1589Ter)
c.1557T>G (p.Tyr519Ter)
5g.177280766C>ACA362313543NSD1c.4951C>A (p.Pro1651Thr)
c.466C>A (p.Pro156Thr)
n.5407C>A
c.5515C>A (p.Pro1839Thr)
n.5221C>A
n.5971C>A
n.2743C>A
c.5824C>A (p.Pro1942Thr)
c.5017C>A (p.Pro1673Thr)
c.1318C>A (p.Pro440Thr)
c.5404C>A (p.Pro1802Thr)
c.4768C>A (p.Pro1590Thr)
c.1558C>A (p.Pro520Thr)
 dbSNP
5g.177280766C>GCA362313546NSD1c.4951C>G (p.Pro1651Ala)
c.466C>G (p.Pro156Ala)
n.5407C>G
c.5515C>G (p.Pro1839Ala)
n.5221C>G
n.5971C>G
n.2743C>G
c.5824C>G (p.Pro1942Ala)
c.5017C>G (p.Pro1673Ala)
c.1318C>G (p.Pro440Ala)
c.5404C>G (p.Pro1802Ala)
c.4768C>G (p.Pro1590Ala)
c.1558C>G (p.Pro520Ala)
 dbSNP gnomAD v4
5g.177280766C>TCA362313550NSD1c.4951C>T (p.Pro1651Ser)
c.466C>T (p.Pro156Ser)
n.5407C>T
c.5515C>T (p.Pro1839Ser)
n.5221C>T
n.5971C>T
n.2743C>T
c.5824C>T (p.Pro1942Ser)
c.5017C>T (p.Pro1673Ser)
c.1318C>T (p.Pro440Ser)
c.5404C>T (p.Pro1802Ser)
c.4768C>T (p.Pro1590Ser)
c.1558C>T (p.Pro520Ser)
5g.177280766_177280770delCA2499217786NSD1c.4951_4955del (p.Pro1651GlyfsTer2)
c.466_470del (p.Pro156GlyfsTer2)
n.5407_5411del
c.5515_5519del (p.Pro1839GlyfsTer2)
n.5221_5225del
n.5971_5975del
n.2743_2747del
c.5824_5828del (p.Pro1942GlyfsTer2)
c.5017_5021del (p.Pro1673GlyfsTer2)
c.1318_1322del (p.Pro440GlyfsTer2)
c.5404_5408del (p.Pro1802GlyfsTer2)
c.4768_4772del (p.Pro1590GlyfsTer2)
c.1558_1562del (p.Pro520GlyfsTer2)
 ClinVar dbSNP
5g.177280767C>ACA362313560NSD1c.4952C>A (p.Pro1651Gln)
c.467C>A (p.Pro156Gln)
n.5408C>A
c.5516C>A (p.Pro1839Gln)
n.5222C>A
n.5972C>A
n.2744C>A
c.5825C>A (p.Pro1942Gln)
c.5018C>A (p.Pro1673Gln)
c.1319C>A (p.Pro440Gln)
c.5405C>A (p.Pro1802Gln)
c.4769C>A (p.Pro1590Gln)
c.1559C>A (p.Pro520Gln)
5g.177280767C>GCA362313554NSD1c.4952C>G (p.Pro1651Arg)
c.467C>G (p.Pro156Arg)
n.5408C>G
c.5516C>G (p.Pro1839Arg)
n.5222C>G
n.5972C>G
n.2744C>G
c.5825C>G (p.Pro1942Arg)
c.5018C>G (p.Pro1673Arg)
c.1319C>G (p.Pro440Arg)
c.5405C>G (p.Pro1802Arg)
c.4769C>G (p.Pro1590Arg)
c.1559C>G (p.Pro520Arg)
 dbSNP
5g.177280767C>TCA362313557NSD1c.4952C>T (p.Pro1651Leu)
c.467C>T (p.Pro156Leu)
n.5408C>T
c.5516C>T (p.Pro1839Leu)
n.5222C>T
n.5972C>T
n.2744C>T
c.5825C>T (p.Pro1942Leu)
c.5018C>T (p.Pro1673Leu)
c.1319C>T (p.Pro440Leu)
c.5405C>T (p.Pro1802Leu)
c.4769C>T (p.Pro1590Leu)
c.1559C>T (p.Pro520Leu)
5g.177280768delCA2695205718NSD1c.4953del (p.Glu1652ArgfsTer26)
c.468del (p.Glu157ArgfsTer26)
n.5409del
c.5517del (p.Glu1840ArgfsTer26)
n.5223del
n.5973del
n.2745del
c.5826del (p.Glu1943ArgfsTer26)
c.5019del (p.Glu1674ArgfsTer26)
c.1320del (p.Glu441ArgfsTer26)
c.5406del (p.Glu1803ArgfsTer26)
c.4770del (p.Glu1591ArgfsTer26)
c.1560del (p.Glu521ArgfsTer26)
5g.177280768A>CCA447961440NSD1c.4953A>C (p.Pro1651=)
c.468A>C (p.Pro156=)
n.5409A>C
c.5517A>C (p.Pro1839=)
n.5223A>C
n.5973A>C
n.2745A>C
c.5826A>C (p.Pro1942=)
c.5019A>C (p.Pro1673=)
c.1320A>C (p.Pro440=)
c.5406A>C (p.Pro1802=)
c.4770A>C (p.Pro1590=)
c.1560A>C (p.Pro520=)
5g.177280768A>GCA447961441NSD1c.4953A>G (p.Pro1651=)
c.468A>G (p.Pro156=)
n.5409A>G
c.5517A>G (p.Pro1839=)
n.5223A>G
n.5973A>G
n.2745A>G
c.5826A>G (p.Pro1942=)
c.5019A>G (p.Pro1673=)
c.1320A>G (p.Pro440=)
c.5406A>G (p.Pro1802=)
c.4770A>G (p.Pro1590=)
c.1560A>G (p.Pro520=)
5g.177280768A>TCA447961442NSD1c.4953A>T (p.Pro1651=)
c.468A>T (p.Pro156=)
n.5409A>T
c.5517A>T (p.Pro1839=)
n.5223A>T
n.5973A>T
n.2745A>T
c.5826A>T (p.Pro1942=)
c.5019A>T (p.Pro1673=)
c.1320A>T (p.Pro440=)
c.5406A>T (p.Pro1802=)
c.4770A>T (p.Pro1590=)
c.1560A>T (p.Pro520=)
5g.177280769G>ACA362313564NSD1c.4954G>A (p.Glu1652Lys)
c.469G>A (p.Glu157Lys)
n.5410G>A
c.5518G>A (p.Glu1840Lys)
n.5224G>A
n.5974G>A
n.2746G>A
c.5827G>A (p.Glu1943Lys)
c.5020G>A (p.Glu1674Lys)
c.1321G>A (p.Glu441Lys)
c.5407G>A (p.Glu1803Lys)
c.4771G>A (p.Glu1591Lys)
c.1561G>A (p.Glu521Lys)
 ClinVar dbSNP
5g.177280769G>CCA362313566NSD1c.4954G>C (p.Glu1652Gln)
c.469G>C (p.Glu157Gln)
n.5410G>C
c.5518G>C (p.Glu1840Gln)
n.5224G>C
n.5974G>C
n.2746G>C
c.5827G>C (p.Glu1943Gln)
c.5020G>C (p.Glu1674Gln)
c.1321G>C (p.Glu441Gln)
c.5407G>C (p.Glu1803Gln)
c.4771G>C (p.Glu1591Gln)
c.1561G>C (p.Glu521Gln)
5g.177280769G>TCA362313567NSD1c.4954G>T (p.Glu1652Ter)
c.469G>T (p.Glu157Ter)
n.5410G>T
c.5518G>T (p.Glu1840Ter)
n.5224G>T
n.5974G>T
n.2746G>T
c.5827G>T (p.Glu1943Ter)
c.5020G>T (p.Glu1674Ter)
c.1321G>T (p.Glu441Ter)
c.5407G>T (p.Glu1803Ter)
c.4771G>T (p.Glu1591Ter)
c.1561G>T (p.Glu521Ter)
5g.177280770A>CCA362313570NSD1c.4955A>C (p.Glu1652Ala)
c.470A>C (p.Glu157Ala)
n.5411A>C
c.5519A>C (p.Glu1840Ala)
n.5225A>C
n.5975A>C
n.2747A>C
c.5828A>C (p.Glu1943Ala)
c.5021A>C (p.Glu1674Ala)
c.1322A>C (p.Glu441Ala)
c.5408A>C (p.Glu1803Ala)
c.4772A>C (p.Glu1591Ala)
c.1562A>C (p.Glu521Ala)
5g.177280770A>GCA362313573NSD1c.4955A>G (p.Glu1652Gly)
c.470A>G (p.Glu157Gly)
n.5411A>G
c.5519A>G (p.Glu1840Gly)
n.5225A>G
n.5975A>G
n.2747A>G
c.5828A>G (p.Glu1943Gly)
c.5021A>G (p.Glu1674Gly)
c.1322A>G (p.Glu441Gly)
c.5408A>G (p.Glu1803Gly)
c.4772A>G (p.Glu1591Gly)
c.1562A>G (p.Glu521Gly)
5g.177280770A>TCA362313576NSD1c.4955A>T (p.Glu1652Val)
c.470A>T (p.Glu157Val)
n.5411A>T
c.5519A>T (p.Glu1840Val)
n.5225A>T
n.5975A>T
n.2747A>T
c.5828A>T (p.Glu1943Val)
c.5021A>T (p.Glu1674Val)
c.1322A>T (p.Glu441Val)
c.5408A>T (p.Glu1803Val)
c.4772A>T (p.Glu1591Val)
c.1562A>T (p.Glu521Val)
5g.177280771G>ACA447961444NSD1c.4956G>A (p.Glu1652=)
c.471G>A (p.Glu157=)
n.5412G>A
c.5520G>A (p.Glu1840=)
n.5226G>A
n.5976G>A
n.2748G>A
c.5829G>A (p.Glu1943=)
c.5022G>A (p.Glu1674=)
c.1323G>A (p.Glu441=)
c.5409G>A (p.Glu1803=)
c.4773G>A (p.Glu1591=)
c.1563G>A (p.Glu521=)
 dbSNP gnomAD v4
5g.177280771G>CCA362313579NSD1c.4956G>C (p.Glu1652Asp)
c.471G>C (p.Glu157Asp)
n.5412G>C
c.5520G>C (p.Glu1840Asp)
n.5226G>C
n.5976G>C
n.2748G>C
c.5829G>C (p.Glu1943Asp)
c.5022G>C (p.Glu1674Asp)
c.1323G>C (p.Glu441Asp)
c.5409G>C (p.Glu1803Asp)
c.4773G>C (p.Glu1591Asp)
c.1563G>C (p.Glu521Asp)
5g.177280771G>TCA362313581NSD1c.4956G>T (p.Glu1652Asp)
c.471G>T (p.Glu157Asp)
n.5412G>T
c.5520G>T (p.Glu1840Asp)
n.5226G>T
n.5976G>T
n.2748G>T
c.5829G>T (p.Glu1943Asp)
c.5022G>T (p.Glu1674Asp)
c.1323G>T (p.Glu441Asp)
c.5409G>T (p.Glu1803Asp)
c.4773G>T (p.Glu1591Asp)
c.1563G>T (p.Glu521Asp)
5g.177280772G>ACA362313584NSD1c.4957G>A (p.Val1653Ile)
c.472G>A (p.Val158Ile)
n.5413G>A
c.5521G>A (p.Val1841Ile)
n.5227G>A
n.5977G>A
n.2749G>A
c.5830G>A (p.Val1944Ile)
c.5023G>A (p.Val1675Ile)
c.1324G>A (p.Val442Ile)
c.5410G>A (p.Val1804Ile)
c.4774G>A (p.Val1592Ile)
c.1564G>A (p.Val522Ile)
5g.177280772G>CCA362313586NSD1c.4957G>C (p.Val1653Leu)
c.472G>C (p.Val158Leu)
n.5413G>C
c.5521G>C (p.Val1841Leu)
n.5227G>C
n.5977G>C
n.2749G>C
c.5830G>C (p.Val1944Leu)
c.5023G>C (p.Val1675Leu)
c.1324G>C (p.Val442Leu)
c.5410G>C (p.Val1804Leu)
c.4774G>C (p.Val1592Leu)
c.1564G>C (p.Val522Leu)
5g.177280772G>TCA362313587NSD1c.4957G>T (p.Val1653Phe)
c.472G>T (p.Val158Phe)
n.5413G>T
c.5521G>T (p.Val1841Phe)
n.5227G>T
n.5977G>T
n.2749G>T
c.5830G>T (p.Val1944Phe)
c.5023G>T (p.Val1675Phe)
c.1324G>T (p.Val442Phe)
c.5410G>T (p.Val1804Phe)
c.4774G>T (p.Val1592Phe)
c.1564G>T (p.Val522Phe)
5g.177280773T>ACA362313596NSD1c.4958T>A (p.Val1653Asp)
c.473T>A (p.Val158Asp)
n.5414T>A
c.5522T>A (p.Val1841Asp)
n.5228T>A
n.5978T>A
n.2750T>A
c.5831T>A (p.Val1944Asp)
c.5024T>A (p.Val1675Asp)
c.1325T>A (p.Val442Asp)
c.5411T>A (p.Val1804Asp)
c.4775T>A (p.Val1592Asp)
c.1565T>A (p.Val522Asp)
5g.177280773T>CCA362313594NSD1c.4958T>C (p.Val1653Ala)
c.473T>C (p.Val158Ala)
n.5414T>C
c.5522T>C (p.Val1841Ala)
n.5228T>C
n.5978T>C
n.2750T>C
c.5831T>C (p.Val1944Ala)
c.5024T>C (p.Val1675Ala)
c.1325T>C (p.Val442Ala)
c.5411T>C (p.Val1804Ala)
c.4775T>C (p.Val1592Ala)
c.1565T>C (p.Val522Ala)
5g.177280773T>GCA362313592NSD1c.4958T>G (p.Val1653Gly)
c.473T>G (p.Val158Gly)
n.5414T>G
c.5522T>G (p.Val1841Gly)
n.5228T>G
n.5978T>G
n.2750T>G
c.5831T>G (p.Val1944Gly)
c.5024T>G (p.Val1675Gly)
c.1325T>G (p.Val442Gly)
c.5411T>G (p.Val1804Gly)
c.4775T>G (p.Val1592Gly)
c.1565T>G (p.Val522Gly)
5g.177280774T>ACA447961449NSD1c.4959T>A (p.Val1653=)
c.474T>A (p.Val158=)
n.5415T>A
c.5523T>A (p.Val1841=)
n.5229T>A
n.5979T>A
n.2751T>A
c.5832T>A (p.Val1944=)
c.5025T>A (p.Val1675=)
c.1326T>A (p.Val442=)
c.5412T>A (p.Val1804=)
c.4776T>A (p.Val1592=)
c.1566T>A (p.Val522=)
5g.177280774T>CCA3577895NSD1c.4959T>C (p.Val1653=)
c.474T>C (p.Val158=)
n.5415T>C
c.5523T>C (p.Val1841=)
n.5229T>C
n.5979T>C
n.2751T>C
c.5832T>C (p.Val1944=)
c.5025T>C (p.Val1675=)
c.1326T>C (p.Val442=)
c.5412T>C (p.Val1804=)
c.4776T>C (p.Val1592=)
c.1566T>C (p.Val522=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280774T>GCA447961450NSD1c.4959T>G (p.Val1653=)
c.474T>G (p.Val158=)
n.5415T>G
c.5523T>G (p.Val1841=)
n.5229T>G
n.5979T>G
n.2751T>G
c.5832T>G (p.Val1944=)
c.5025T>G (p.Val1675=)
c.1326T>G (p.Val442=)
c.5412T>G (p.Val1804=)
c.4776T>G (p.Val1592=)
c.1566T>G (p.Val522=)
5g.177280774T=CA1603550599NSD1c.4959T= (p.Val1653=)
c.474T= (p.Val158=)
n.5415T=
c.5523T= (p.Val1841=)
n.5229T=
n.5979T=
n.2751T=
c.5832T= (p.Val1944=)
c.5025T= (p.Val1675=)
c.1326T= (p.Val442=)
c.5412T= (p.Val1804=)
c.4776T= (p.Val1592=)
c.1566T= (p.Val522=)
5g.177280775G>ACA362313606NSD1c.4960G>A (p.Glu1654Lys)
c.475G>A (p.Glu159Lys)
n.5416G>A
c.5524G>A (p.Glu1842Lys)
n.5230G>A
n.5980G>A
n.2752G>A
c.5833G>A (p.Glu1945Lys)
c.5026G>A (p.Glu1676Lys)
c.1327G>A (p.Glu443Lys)
c.5413G>A (p.Glu1805Lys)
c.4777G>A (p.Glu1593Lys)
c.1567G>A (p.Glu523Lys)
5g.177280775G>CCA362313601NSD1c.4960G>C (p.Glu1654Gln)
c.475G>C (p.Glu159Gln)
n.5416G>C
c.5524G>C (p.Glu1842Gln)
n.5230G>C
n.5980G>C
n.2752G>C
c.5833G>C (p.Glu1945Gln)
c.5026G>C (p.Glu1676Gln)
c.1327G>C (p.Glu443Gln)
c.5413G>C (p.Glu1805Gln)
c.4777G>C (p.Glu1593Gln)
c.1567G>C (p.Glu523Gln)
5g.177280775G>TCA362313604NSD1c.4960G>T (p.Glu1654Ter)
c.475G>T (p.Glu159Ter)
n.5416G>T
c.5524G>T (p.Glu1842Ter)
n.5230G>T
n.5980G>T
n.2752G>T
c.5833G>T (p.Glu1945Ter)
c.5026G>T (p.Glu1676Ter)
c.1327G>T (p.Glu443Ter)
c.5413G>T (p.Glu1805Ter)
c.4777G>T (p.Glu1593Ter)
c.1567G>T (p.Glu523Ter)
5g.177280776A>CCA362313609NSD1c.4961A>C (p.Glu1654Ala)
c.476A>C (p.Glu159Ala)
n.5417A>C
c.5525A>C (p.Glu1842Ala)
n.5231A>C
n.5981A>C
n.2753A>C
c.5834A>C (p.Glu1945Ala)
c.5027A>C (p.Glu1676Ala)
c.1328A>C (p.Glu443Ala)
c.5414A>C (p.Glu1805Ala)
c.4778A>C (p.Glu1593Ala)
c.1568A>C (p.Glu523Ala)
5g.177280776A>GCA362313612NSD1c.4961A>G (p.Glu1654Gly)
c.476A>G (p.Glu159Gly)
n.5417A>G
c.5525A>G (p.Glu1842Gly)
n.5231A>G
n.5981A>G
n.2753A>G
c.5834A>G (p.Glu1945Gly)
c.5027A>G (p.Glu1676Gly)
c.1328A>G (p.Glu443Gly)
c.5414A>G (p.Glu1805Gly)
c.4778A>G (p.Glu1593Gly)
c.1568A>G (p.Glu523Gly)
5g.177280776A>TCA362313614NSD1c.4961A>T (p.Glu1654Val)
c.476A>T (p.Glu159Val)
n.5417A>T
c.5525A>T (p.Glu1842Val)
n.5231A>T
n.5981A>T
n.2753A>T
c.5834A>T (p.Glu1945Val)
c.5027A>T (p.Glu1676Val)
c.1328A>T (p.Glu443Val)
c.5414A>T (p.Glu1805Val)
c.4778A>T (p.Glu1593Val)
c.1568A>T (p.Glu523Val)
5g.177280777A>CCA362313615NSD1c.4962A>C (p.Glu1654Asp)
c.477A>C (p.Glu159Asp)
n.5418A>C
c.5526A>C (p.Glu1842Asp)
n.5232A>C
n.5982A>C
n.2754A>C
c.5835A>C (p.Glu1945Asp)
c.5028A>C (p.Glu1676Asp)
c.1329A>C (p.Glu443Asp)
c.5415A>C (p.Glu1805Asp)
c.4779A>C (p.Glu1593Asp)
c.1569A>C (p.Glu523Asp)
5g.177280777A>GCA447961454NSD1c.4962A>G (p.Glu1654=)
c.477A>G (p.Glu159=)
n.5418A>G
c.5526A>G (p.Glu1842=)
n.5232A>G
n.5982A>G
n.2754A>G
c.5835A>G (p.Glu1945=)
c.5028A>G (p.Glu1676=)
c.1329A>G (p.Glu443=)
c.5415A>G (p.Glu1805=)
c.4779A>G (p.Glu1593=)
c.1569A>G (p.Glu523=)
5g.177280777A>TCA362313619NSD1c.4962A>T (p.Glu1654Asp)
c.477A>T (p.Glu159Asp)
n.5418A>T
c.5526A>T (p.Glu1842Asp)
n.5232A>T
n.5982A>T
n.2754A>T
c.5835A>T (p.Glu1945Asp)
c.5028A>T (p.Glu1676Asp)
c.1329A>T (p.Glu443Asp)
c.5415A>T (p.Glu1805Asp)
c.4779A>T (p.Glu1593Asp)
c.1569A>T (p.Glu523Asp)
5g.177280778A>CCA362313622NSD1c.4963A>C (p.Ile1655Leu)
c.478A>C (p.Ile160Leu)
n.5419A>C
c.5527A>C (p.Ile1843Leu)
n.5233A>C
n.5983A>C
n.2755A>C
c.5836A>C (p.Ile1946Leu)
c.5029A>C (p.Ile1677Leu)
c.1330A>C (p.Ile444Leu)
c.5416A>C (p.Ile1806Leu)
c.4780A>C (p.Ile1594Leu)
c.1570A>C (p.Ile524Leu)
5g.177280778A>GCA362313624NSD1c.4963A>G (p.Ile1655Val)
c.478A>G (p.Ile160Val)
n.5419A>G
c.5527A>G (p.Ile1843Val)
n.5233A>G
n.5983A>G
n.2755A>G
c.5836A>G (p.Ile1946Val)
c.5029A>G (p.Ile1677Val)
c.1330A>G (p.Ile444Val)
c.5416A>G (p.Ile1806Val)
c.4780A>G (p.Ile1594Val)
c.1570A>G (p.Ile524Val)
 ClinVar
5g.177280778A>TCA362313627NSD1c.4963A>T (p.Ile1655Phe)
c.478A>T (p.Ile160Phe)
n.5419A>T
c.5527A>T (p.Ile1843Phe)
n.5233A>T
n.5983A>T
n.2755A>T
c.5836A>T (p.Ile1946Phe)
c.5029A>T (p.Ile1677Phe)
c.1330A>T (p.Ile444Phe)
c.5416A>T (p.Ile1806Phe)
c.4780A>T (p.Ile1594Phe)
c.1570A>T (p.Ile524Phe)
5g.177280779T>ACA362313629NSD1c.4964T>A (p.Ile1655Asn)
c.479T>A (p.Ile160Asn)
n.5420T>A
c.5528T>A (p.Ile1843Asn)
n.5234T>A
n.5984T>A
n.2756T>A
c.5837T>A (p.Ile1946Asn)
c.5030T>A (p.Ile1677Asn)
c.1331T>A (p.Ile444Asn)
c.5417T>A (p.Ile1806Asn)
c.4781T>A (p.Ile1594Asn)
c.1571T>A (p.Ile524Asn)
5g.177280779T>CCA362313630NSD1c.4964T>C (p.Ile1655Thr)
c.479T>C (p.Ile160Thr)
n.5420T>C
c.5528T>C (p.Ile1843Thr)
n.5234T>C
n.5984T>C
n.2756T>C
c.5837T>C (p.Ile1946Thr)
c.5030T>C (p.Ile1677Thr)
c.1331T>C (p.Ile444Thr)
c.5417T>C (p.Ile1806Thr)
c.4781T>C (p.Ile1594Thr)
c.1571T>C (p.Ile524Thr)
 gnomAD v4
5g.177280779T>GCA362313632NSD1c.4964T>G (p.Ile1655Ser)
c.479T>G (p.Ile160Ser)
n.5420T>G
c.5528T>G (p.Ile1843Ser)
n.5234T>G
n.5984T>G
n.2756T>G
c.5837T>G (p.Ile1946Ser)
c.5030T>G (p.Ile1677Ser)
c.1331T>G (p.Ile444Ser)
c.5417T>G (p.Ile1806Ser)
c.4781T>G (p.Ile1594Ser)
c.1571T>G (p.Ile524Ser)
5g.177280780T>ACA447961465NSD1c.4965T>A (p.Ile1655=)
c.480T>A (p.Ile160=)
n.5421T>A
c.5529T>A (p.Ile1843=)
n.5235T>A
n.5985T>A
n.2757T>A
c.5838T>A (p.Ile1946=)
c.5031T>A (p.Ile1677=)
c.1332T>A (p.Ile444=)
c.5418T>A (p.Ile1806=)
c.4782T>A (p.Ile1594=)
c.1572T>A (p.Ile524=)
5g.177280780T>CCA447961464NSD1c.4965T>C (p.Ile1655=)
c.480T>C (p.Ile160=)
n.5421T>C
c.5529T>C (p.Ile1843=)
n.5235T>C
n.5985T>C
n.2757T>C
c.5838T>C (p.Ile1946=)
c.5031T>C (p.Ile1677=)
c.1332T>C (p.Ile444=)
c.5418T>C (p.Ile1806=)
c.4782T>C (p.Ile1594=)
c.1572T>C (p.Ile524=)
5g.177280780T>GCA362313636NSD1c.4965T>G (p.Ile1655Met)
c.480T>G (p.Ile160Met)
n.5421T>G
c.5529T>G (p.Ile1843Met)
n.5235T>G
n.5985T>G
n.2757T>G
c.5838T>G (p.Ile1946Met)
c.5031T>G (p.Ile1677Met)
c.1332T>G (p.Ile444Met)
c.5418T>G (p.Ile1806Met)
c.4782T>G (p.Ile1594Met)
c.1572T>G (p.Ile524Met)
5g.177280781T>ACA362313645NSD1c.4966T>A (p.Phe1656Ile)
c.481T>A (p.Phe161Ile)
n.5422T>A
c.5530T>A (p.Phe1844Ile)
n.5236T>A
n.5986T>A
n.2758T>A
c.5839T>A (p.Phe1947Ile)
c.5032T>A (p.Phe1678Ile)
c.1333T>A (p.Phe445Ile)
c.5419T>A (p.Phe1807Ile)
c.4783T>A (p.Phe1595Ile)
c.1573T>A (p.Phe525Ile)
5g.177280781T>CCA362313642NSD1c.4966T>C (p.Phe1656Leu)
c.481T>C (p.Phe161Leu)
n.5422T>C
c.5530T>C (p.Phe1844Leu)
n.5236T>C
n.5986T>C
n.2758T>C
c.5839T>C (p.Phe1947Leu)
c.5032T>C (p.Phe1678Leu)
c.1333T>C (p.Phe445Leu)
c.5419T>C (p.Phe1807Leu)
c.4783T>C (p.Phe1595Leu)
c.1573T>C (p.Phe525Leu)
5g.177280781T>GCA362313640NSD1c.4966T>G (p.Phe1656Val)
c.481T>G (p.Phe161Val)
n.5422T>G
c.5530T>G (p.Phe1844Val)
n.5236T>G
n.5986T>G
n.2758T>G
c.5839T>G (p.Phe1947Val)
c.5032T>G (p.Phe1678Val)
c.1333T>G (p.Phe445Val)
c.5419T>G (p.Phe1807Val)
c.4783T>G (p.Phe1595Val)
c.1573T>G (p.Phe525Val)
 gnomAD v4
5g.177280782T>ACA362313648NSD1c.4967T>A (p.Phe1656Tyr)
c.482T>A (p.Phe161Tyr)
n.5423T>A
c.5531T>A (p.Phe1844Tyr)
n.5237T>A
n.5987T>A
n.2759T>A
c.5840T>A (p.Phe1947Tyr)
c.5033T>A (p.Phe1678Tyr)
c.1334T>A (p.Phe445Tyr)
c.5420T>A (p.Phe1807Tyr)
c.4784T>A (p.Phe1595Tyr)
c.1574T>A (p.Phe525Tyr)
5g.177280782T>CCA362313650NSD1c.4967T>C (p.Phe1656Ser)
c.482T>C (p.Phe161Ser)
n.5423T>C
c.5531T>C (p.Phe1844Ser)
n.5237T>C
n.5987T>C
n.2759T>C
c.5840T>C (p.Phe1947Ser)
c.5033T>C (p.Phe1678Ser)
c.1334T>C (p.Phe445Ser)
c.5420T>C (p.Phe1807Ser)
c.4784T>C (p.Phe1595Ser)
c.1574T>C (p.Phe525Ser)
5g.177280782T>GCA362313652NSD1c.4967T>G (p.Phe1656Cys)
c.482T>G (p.Phe161Cys)
n.5423T>G
c.5531T>G (p.Phe1844Cys)
n.5237T>G
n.5987T>G
n.2759T>G
c.5840T>G (p.Phe1947Cys)
c.5033T>G (p.Phe1678Cys)
c.1334T>G (p.Phe445Cys)
c.5420T>G (p.Phe1807Cys)
c.4784T>G (p.Phe1595Cys)
c.1574T>G (p.Phe525Cys)
5g.177280783_177280790dupCA2695205719NSD1c.4968_4975dup (p.Leu1659SerfsTer22)
c.483_490dup (p.Leu164SerfsTer22)
n.5424_5431dup
c.5532_5539dup (p.Leu1847SerfsTer22)
n.5238_5245dup
n.5988_5995dup
n.2760_2767dup
c.5841_5848dup (p.Leu1950SerfsTer22)
c.5034_5041dup (p.Leu1681SerfsTer22)
c.1335_1342dup (p.Leu448SerfsTer22)
c.5421_5428dup (p.Leu1810SerfsTer22)
c.4785_4792dup (p.Leu1598SerfsTer22)
c.1575_1582dup (p.Leu528SerfsTer22)
5g.177280783C>ACA362313656NSD1c.4968C>A (p.Phe1656Leu)
c.483C>A (p.Phe161Leu)
n.5424C>A
c.5532C>A (p.Phe1844Leu)
n.5238C>A
n.5988C>A
n.2760C>A
c.5841C>A (p.Phe1947Leu)
c.5034C>A (p.Phe1678Leu)
c.1335C>A (p.Phe445Leu)
c.5421C>A (p.Phe1807Leu)
c.4785C>A (p.Phe1595Leu)
c.1575C>A (p.Phe525Leu)
 dbSNP
5g.177280783C>GCA362313658NSD1c.4968C>G (p.Phe1656Leu)
c.483C>G (p.Phe161Leu)
n.5424C>G
c.5532C>G (p.Phe1844Leu)
n.5238C>G
n.5988C>G
n.2760C>G
c.5841C>G (p.Phe1947Leu)
c.5034C>G (p.Phe1678Leu)
c.1335C>G (p.Phe445Leu)
c.5421C>G (p.Phe1807Leu)
c.4785C>G (p.Phe1595Leu)
c.1575C>G (p.Phe525Leu)
 dbSNP
5g.177280783C>TCA447961474NSD1c.4968C>T (p.Phe1656=)
c.483C>T (p.Phe161=)
n.5424C>T
c.5532C>T (p.Phe1844=)
n.5238C>T
n.5988C>T
n.2760C>T
c.5841C>T (p.Phe1947=)
c.5034C>T (p.Phe1678=)
c.1335C>T (p.Phe445=)
c.5421C>T (p.Phe1807=)
c.4785C>T (p.Phe1595=)
c.1575C>T (p.Phe525=)
 COSMIC COSMIC
5g.177280784C>ACA362313662NSD1c.4969C>A (p.Arg1657Ser)
c.484C>A (p.Arg162Ser)
n.5425C>A
c.5533C>A (p.Arg1845Ser)
n.5239C>A
n.5989C>A
n.2761C>A
c.5842C>A (p.Arg1948Ser)
c.5035C>A (p.Arg1679Ser)
c.1336C>A (p.Arg446Ser)
c.5422C>A (p.Arg1808Ser)
c.4786C>A (p.Arg1596Ser)
c.1576C>A (p.Arg526Ser)
 dbSNP
5g.177280784C=CA1603550604NSD1c.4969C= (p.Arg1657=)
c.484C= (p.Arg162=)
n.5425C=
c.5533C= (p.Arg1845=)
n.5239C=
n.5989C=
n.2761C=
c.5842C= (p.Arg1948=)
c.5035C= (p.Arg1679=)
c.1336C= (p.Arg446=)
c.5422C= (p.Arg1808=)
c.4786C= (p.Arg1596=)
c.1576C= (p.Arg526=)
5g.177280784C>GCA362313664NSD1c.4969C>G (p.Arg1657Gly)
c.484C>G (p.Arg162Gly)
n.5425C>G
c.5533C>G (p.Arg1845Gly)
n.5239C>G
n.5989C>G
n.2761C>G
c.5842C>G (p.Arg1948Gly)
c.5035C>G (p.Arg1679Gly)
c.1336C>G (p.Arg446Gly)
c.5422C>G (p.Arg1808Gly)
c.4786C>G (p.Arg1596Gly)
c.1576C>G (p.Arg526Gly)
5g.177280784C>TCA10602919NSD1c.4969C>T (p.Arg1657Cys)
c.484C>T (p.Arg162Cys)
n.5425C>T
c.5533C>T (p.Arg1845Cys)
n.5239C>T
n.5989C>T
n.2761C>T
c.5842C>T (p.Arg1948Cys)
c.5035C>T (p.Arg1679Cys)
c.1336C>T (p.Arg446Cys)
c.5422C>T (p.Arg1808Cys)
c.4786C>T (p.Arg1596Cys)
c.1576C>T (p.Arg526Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
5g.177280785G>ACA3577896NSD1c.4970G>A (p.Arg1657His)
c.485G>A (p.Arg162His)
n.5426G>A
c.5534G>A (p.Arg1845His)
n.5240G>A
n.5990G>A
n.2762G>A
c.5843G>A (p.Arg1948His)
c.5036G>A (p.Arg1679His)
c.1337G>A (p.Arg446His)
c.5423G>A (p.Arg1808His)
c.4787G>A (p.Arg1596His)
c.1577G>A (p.Arg526His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280785G>CCA362313669NSD1c.4970G>C (p.Arg1657Pro)
c.485G>C (p.Arg162Pro)
n.5426G>C
c.5534G>C (p.Arg1845Pro)
n.5240G>C
n.5990G>C
n.2762G>C
c.5843G>C (p.Arg1948Pro)
c.5036G>C (p.Arg1679Pro)
c.1337G>C (p.Arg446Pro)
c.5423G>C (p.Arg1808Pro)
c.4787G>C (p.Arg1596Pro)
c.1577G>C (p.Arg526Pro)
5g.177280785G=CA1603550612NSD1c.4970G= (p.Arg1657=)
c.485G= (p.Arg162=)
n.5426G=
c.5534G= (p.Arg1845=)
n.5240G=
n.5990G=
n.2762G=
c.5843G= (p.Arg1948=)
c.5036G= (p.Arg1679=)
c.1337G= (p.Arg446=)
c.5423G= (p.Arg1808=)
c.4787G= (p.Arg1596=)
c.1577G= (p.Arg526=)
5g.177280785G>TCA362313673NSD1c.4970G>T (p.Arg1657Leu)
c.485G>T (p.Arg162Leu)
n.5426G>T
c.5534G>T (p.Arg1845Leu)
n.5240G>T
n.5990G>T
n.2762G>T
c.5843G>T (p.Arg1948Leu)
c.5036G>T (p.Arg1679Leu)
c.1337G>T (p.Arg446Leu)
c.5423G>T (p.Arg1808Leu)
c.4787G>T (p.Arg1596Leu)
c.1577G>T (p.Arg526Leu)
5g.177280786C>ACA447961477NSD1c.4971C>A (p.Arg1657=)
c.486C>A (p.Arg162=)
n.5427C>A
c.5535C>A (p.Arg1845=)
n.5241C>A
n.5991C>A
n.2763C>A
c.5844C>A (p.Arg1948=)
c.5037C>A (p.Arg1679=)
c.1338C>A (p.Arg446=)
c.5424C>A (p.Arg1808=)
c.4788C>A (p.Arg1596=)
c.1578C>A (p.Arg526=)
5g.177280786C=CA1603550616NSD1c.4971C= (p.Arg1657=)
c.486C= (p.Arg162=)
n.5427C=
c.5535C= (p.Arg1845=)
n.5241C=
n.5991C=
n.2763C=
c.5844C= (p.Arg1948=)
c.5037C= (p.Arg1679=)
c.1338C= (p.Arg446=)
c.5424C= (p.Arg1808=)
c.4788C= (p.Arg1596=)
c.1578C= (p.Arg526=)
5g.177280786C>GCA447961479NSD1c.4971C>G (p.Arg1657=)
c.486C>G (p.Arg162=)
n.5427C>G
c.5535C>G (p.Arg1845=)
n.5241C>G
n.5991C>G
n.2763C>G
c.5844C>G (p.Arg1948=)
c.5037C>G (p.Arg1679=)
c.1338C>G (p.Arg446=)
c.5424C>G (p.Arg1808=)
c.4788C>G (p.Arg1596=)
c.1578C>G (p.Arg526=)
5g.177280786C>TCA447961478NSD1c.4971C>T (p.Arg1657=)
c.486C>T (p.Arg162=)
n.5427C>T
c.5535C>T (p.Arg1845=)
n.5241C>T
n.5991C>T
n.2763C>T
c.5844C>T (p.Arg1948=)
c.5037C>T (p.Arg1679=)
c.1338C>T (p.Arg446=)
c.5424C>T (p.Arg1808=)
c.4788C>T (p.Arg1596=)
c.1578C>T (p.Arg526=)
 dbSNP
5g.177280787A>CCA362313676NSD1c.4972A>C (p.Thr1658Pro)
c.487A>C (p.Thr163Pro)
n.5428A>C
c.5536A>C (p.Thr1846Pro)
n.5242A>C
n.5992A>C
n.2764A>C
c.5845A>C (p.Thr1949Pro)
c.5038A>C (p.Thr1680Pro)
c.1339A>C (p.Thr447Pro)
c.5425A>C (p.Thr1809Pro)
c.4789A>C (p.Thr1597Pro)
c.1579A>C (p.Thr527Pro)
5g.177280787A>GCA362313679NSD1c.4972A>G (p.Thr1658Ala)
c.487A>G (p.Thr163Ala)
n.5428A>G
c.5536A>G (p.Thr1846Ala)
n.5242A>G
n.5992A>G
n.2764A>G
c.5845A>G (p.Thr1949Ala)
c.5038A>G (p.Thr1680Ala)
c.1339A>G (p.Thr447Ala)
c.5425A>G (p.Thr1809Ala)
c.4789A>G (p.Thr1597Ala)
c.1579A>G (p.Thr527Ala)
5g.177280787A>TCA362313681NSD1c.4972A>T (p.Thr1658Ser)
c.487A>T (p.Thr163Ser)
n.5428A>T
c.5536A>T (p.Thr1846Ser)
n.5242A>T
n.5992A>T
n.2764A>T
c.5845A>T (p.Thr1949Ser)
c.5038A>T (p.Thr1680Ser)
c.1339A>T (p.Thr447Ser)
c.5425A>T (p.Thr1809Ser)
c.4789A>T (p.Thr1597Ser)
c.1579A>T (p.Thr527Ser)
5g.177280788C>ACA362313687NSD1c.4973C>A (p.Thr1658Lys)
c.488C>A (p.Thr163Lys)
n.5429C>A
c.5537C>A (p.Thr1846Lys)
n.5243C>A
n.5993C>A
n.2765C>A
c.5846C>A (p.Thr1949Lys)
c.5039C>A (p.Thr1680Lys)
c.1340C>A (p.Thr447Lys)
c.5426C>A (p.Thr1809Lys)
c.4790C>A (p.Thr1597Lys)
c.1580C>A (p.Thr527Lys)
5g.177280788C>GCA362313690NSD1c.4973C>G (p.Thr1658Arg)
c.488C>G (p.Thr163Arg)
n.5429C>G
c.5537C>G (p.Thr1846Arg)
n.5243C>G
n.5993C>G
n.2765C>G
c.5846C>G (p.Thr1949Arg)
c.5039C>G (p.Thr1680Arg)
c.1340C>G (p.Thr447Arg)
c.5426C>G (p.Thr1809Arg)
c.4790C>G (p.Thr1597Arg)
c.1580C>G (p.Thr527Arg)
5g.177280788C>TCA362313684NSD1c.4973C>T (p.Thr1658Ile)
c.488C>T (p.Thr163Ile)
n.5429C>T
c.5537C>T (p.Thr1846Ile)
n.5243C>T
n.5993C>T
n.2765C>T
c.5846C>T (p.Thr1949Ile)
c.5039C>T (p.Thr1680Ile)
c.1340C>T (p.Thr447Ile)
c.5426C>T (p.Thr1809Ile)
c.4790C>T (p.Thr1597Ile)
c.1580C>T (p.Thr527Ile)
5g.177280789A=CA1603550621NSD1c.4974A= (p.Thr1658=)
c.489A= (p.Thr163=)
n.5430A=
c.5538A= (p.Thr1846=)
n.5244A=
n.5994A=
n.2766A=
c.5847A= (p.Thr1949=)
c.5040A= (p.Thr1680=)
c.1341A= (p.Thr447=)
c.5427A= (p.Thr1809=)
c.4791A= (p.Thr1597=)
c.1581A= (p.Thr527=)
5g.177280789A>CCA447961483NSD1c.4974A>C (p.Thr1658=)
c.489A>C (p.Thr163=)
n.5430A>C
c.5538A>C (p.Thr1846=)
n.5244A>C
n.5994A>C
n.2766A>C
c.5847A>C (p.Thr1949=)
c.5040A>C (p.Thr1680=)
c.1341A>C (p.Thr447=)
c.5427A>C (p.Thr1809=)
c.4791A>C (p.Thr1597=)
c.1581A>C (p.Thr527=)
5g.177280789A>GCA447961484NSD1c.4974A>G (p.Thr1658=)
c.489A>G (p.Thr163=)
n.5430A>G
c.5538A>G (p.Thr1846=)
n.5244A>G
n.5994A>G
n.2766A>G
c.5847A>G (p.Thr1949=)
c.5040A>G (p.Thr1680=)
c.1341A>G (p.Thr447=)
c.5427A>G (p.Thr1809=)
c.4791A>G (p.Thr1597=)
c.1581A>G (p.Thr527=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177280789A>TCA447961485NSD1c.4974A>T (p.Thr1658=)
c.489A>T (p.Thr163=)
n.5430A>T
c.5538A>T (p.Thr1846=)
n.5244A>T
n.5994A>T
n.2766A>T
c.5847A>T (p.Thr1949=)
c.5040A>T (p.Thr1680=)
c.1341A>T (p.Thr447=)
c.5427A>T (p.Thr1809=)
c.4791A>T (p.Thr1597=)
c.1581A>T (p.Thr527=)
5g.177280790T>ACA362313694NSD1c.4975T>A (p.Leu1659Ile)
c.490T>A (p.Leu164Ile)
n.5431T>A
c.5539T>A (p.Leu1847Ile)
n.5245T>A
n.5995T>A
n.2767T>A
c.5848T>A (p.Leu1950Ile)
c.5041T>A (p.Leu1681Ile)
c.1342T>A (p.Leu448Ile)
c.5428T>A (p.Leu1810Ile)
c.4792T>A (p.Leu1598Ile)
c.1582T>A (p.Leu528Ile)
5g.177280790T>CCA447961486NSD1c.4975T>C (p.Leu1659=)
c.490T>C (p.Leu164=)
n.5431T>C
c.5539T>C (p.Leu1847=)
n.5245T>C
n.5995T>C
n.2767T>C
c.5848T>C (p.Leu1950=)
c.5041T>C (p.Leu1681=)
c.1342T>C (p.Leu448=)
c.5428T>C (p.Leu1810=)
c.4792T>C (p.Leu1598=)
c.1582T>C (p.Leu528=)
5g.177280790T>GCA362313696NSD1c.4975T>G (p.Leu1659Val)
c.490T>G (p.Leu164Val)
n.5431T>G
c.5539T>G (p.Leu1847Val)
n.5245T>G
n.5995T>G
n.2767T>G
c.5848T>G (p.Leu1950Val)
c.5041T>G (p.Leu1681Val)
c.1342T>G (p.Leu448Val)
c.5428T>G (p.Leu1810Val)
c.4792T>G (p.Leu1598Val)
c.1582T>G (p.Leu528Val)
 dbSNP gnomAD v2 gnomAD v4
5g.177280790T=CA1603550624NSD1c.4975T= (p.Leu1659=)
c.490T= (p.Leu164=)
n.5431T=
c.5539T= (p.Leu1847=)
n.5245T=
n.5995T=
n.2767T=
c.5848T= (p.Leu1950=)
c.5041T= (p.Leu1681=)
c.1342T= (p.Leu448=)
c.5428T= (p.Leu1810=)
c.4792T= (p.Leu1598=)
c.1582T= (p.Leu528=)
5g.177280791T>ACA362313700NSD1c.4976T>A (p.Leu1659Ter)
c.491T>A (p.Leu164Ter)
n.5432T>A
c.5540T>A (p.Leu1847Ter)
n.5246T>A
n.5996T>A
n.2768T>A
c.5849T>A (p.Leu1950Ter)
c.5042T>A (p.Leu1681Ter)
c.1343T>A (p.Leu448Ter)
c.5429T>A (p.Leu1810Ter)
c.4793T>A (p.Leu1598Ter)
c.1583T>A (p.Leu528Ter)
5g.177280791T>CCA362313703NSD1c.4976T>C (p.Leu1659Ser)
c.491T>C (p.Leu164Ser)
n.5432T>C
c.5540T>C (p.Leu1847Ser)
n.5246T>C
n.5996T>C
n.2768T>C
c.5849T>C (p.Leu1950Ser)
c.5042T>C (p.Leu1681Ser)
c.1343T>C (p.Leu448Ser)
c.5429T>C (p.Leu1810Ser)
c.4793T>C (p.Leu1598Ser)
c.1583T>C (p.Leu528Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.177280791T>GCA362313706NSD1c.4976T>G (p.Leu1659Ter)
c.491T>G (p.Leu164Ter)
n.5432T>G
c.5540T>G (p.Leu1847Ter)
n.5246T>G
n.5996T>G
n.2768T>G
c.5849T>G (p.Leu1950Ter)
c.5042T>G (p.Leu1681Ter)
c.1343T>G (p.Leu448Ter)
c.5429T>G (p.Leu1810Ter)
c.4793T>G (p.Leu1598Ter)
c.1583T>G (p.Leu528Ter)
 ClinVar dbSNP
5g.177280791T=CA1603550629NSD1c.4976T= (p.Leu1659=)
c.491T= (p.Leu164=)
n.5432T=
c.5540T= (p.Leu1847=)
n.5246T=
n.5996T=
n.2768T=
c.5849T= (p.Leu1950=)
c.5042T= (p.Leu1681=)
c.1343T= (p.Leu448=)
c.5429T= (p.Leu1810=)
c.4793T= (p.Leu1598=)
c.1583T= (p.Leu528=)
5g.177280792A=CA1603550633NSD1c.4977A= (p.Leu1659=)
c.492A= (p.Leu164=)
n.5433A=
c.5541A= (p.Leu1847=)
n.5247A=
n.5997A=
n.2769A=
c.5850A= (p.Leu1950=)
c.5043A= (p.Leu1681=)
c.1344A= (p.Leu448=)
c.5430A= (p.Leu1810=)
c.4794A= (p.Leu1598=)
c.1584A= (p.Leu528=)
5g.177280792A>CCA362313708NSD1c.4977A>C (p.Leu1659Phe)
c.492A>C (p.Leu164Phe)
n.5433A>C
c.5541A>C (p.Leu1847Phe)
n.5247A>C
n.5997A>C
n.2769A>C
c.5850A>C (p.Leu1950Phe)
c.5043A>C (p.Leu1681Phe)
c.1344A>C (p.Leu448Phe)
c.5430A>C (p.Leu1810Phe)
c.4794A>C (p.Leu1598Phe)
c.1584A>C (p.Leu528Phe)
5g.177280792A>GCA447961490NSD1c.4977A>G (p.Leu1659=)
c.492A>G (p.Leu164=)
n.5433A>G
c.5541A>G (p.Leu1847=)
n.5247A>G
n.5997A>G
n.2769A>G
c.5850A>G (p.Leu1950=)
c.5043A>G (p.Leu1681=)
c.1344A>G (p.Leu448=)
c.5430A>G (p.Leu1810=)
c.4794A>G (p.Leu1598=)
c.1584A>G (p.Leu528=)
 dbSNP gnomAD v3 gnomAD v4
5g.177280792A>TCA362313712NSD1c.4977A>T (p.Leu1659Phe)
c.492A>T (p.Leu164Phe)
n.5433A>T
c.5541A>T (p.Leu1847Phe)
n.5247A>T
n.5997A>T
n.2769A>T
c.5850A>T (p.Leu1950Phe)
c.5043A>T (p.Leu1681Phe)
c.1344A>T (p.Leu448Phe)
c.5430A>T (p.Leu1810Phe)
c.4794A>T (p.Leu1598Phe)
c.1584A>T (p.Leu528Phe)
5g.177280793C>ACA362313715NSD1c.4978C>A (p.Gln1660Lys)
c.493C>A (p.Gln165Lys)
n.5434C>A
c.5542C>A (p.Gln1848Lys)
n.5248C>A
n.5998C>A
n.2770C>A
c.5851C>A (p.Gln1951Lys)
c.5044C>A (p.Gln1682Lys)
c.1345C>A (p.Gln449Lys)
c.5431C>A (p.Gln1811Lys)
c.4795C>A (p.Gln1599Lys)
c.1585C>A (p.Gln529Lys)
5g.177280793C=CA1603550638NSD1c.4978C= (p.Gln1660=)
c.493C= (p.Gln165=)
n.5434C=
c.5542C= (p.Gln1848=)
n.5248C=
n.5998C=
n.2770C=
c.5851C= (p.Gln1951=)
c.5044C= (p.Gln1682=)
c.1345C= (p.Gln449=)
c.5431C= (p.Gln1811=)
c.4795C= (p.Gln1599=)
c.1585C= (p.Gln529=)
5g.177280793C>GCA362313716NSD1c.4978C>G (p.Gln1660Glu)
c.493C>G (p.Gln165Glu)
n.5434C>G
c.5542C>G (p.Gln1848Glu)
n.5248C>G
n.5998C>G
n.2770C>G
c.5851C>G (p.Gln1951Glu)
c.5044C>G (p.Gln1682Glu)
c.1345C>G (p.Gln449Glu)
c.5431C>G (p.Gln1811Glu)
c.4795C>G (p.Gln1599Glu)
c.1585C>G (p.Gln529Glu)
5g.177280793C>TCA362313720NSD1c.4978C>T (p.Gln1660Ter)
c.493C>T (p.Gln165Ter)
n.5434C>T
c.5542C>T (p.Gln1848Ter)
n.5248C>T
n.5998C>T
n.2770C>T
c.5851C>T (p.Gln1951Ter)
c.5044C>T (p.Gln1682Ter)
c.1345C>T (p.Gln449Ter)
c.5431C>T (p.Gln1811Ter)
c.4795C>T (p.Gln1599Ter)
c.1585C>T (p.Gln529Ter)
 ClinVar dbSNP
5g.177280794A>CCA362313723NSD1c.4979A>C (p.Gln1660Pro)
c.494A>C (p.Gln165Pro)
n.5435A>C
c.5543A>C (p.Gln1848Pro)
n.5249A>C
n.5999A>C
n.2771A>C
c.5852A>C (p.Gln1951Pro)
c.5045A>C (p.Gln1682Pro)
c.1346A>C (p.Gln449Pro)
c.5432A>C (p.Gln1811Pro)
c.4796A>C (p.Gln1599Pro)
c.1586A>C (p.Gln529Pro)
5g.177280794A>GCA362313725NSD1c.4979A>G (p.Gln1660Arg)
c.494A>G (p.Gln165Arg)
n.5435A>G
c.5543A>G (p.Gln1848Arg)
n.5249A>G
n.5999A>G
n.2771A>G
c.5852A>G (p.Gln1951Arg)
c.5045A>G (p.Gln1682Arg)
c.1346A>G (p.Gln449Arg)
c.5432A>G (p.Gln1811Arg)
c.4796A>G (p.Gln1599Arg)
c.1586A>G (p.Gln529Arg)
5g.177280794A>TCA362313727NSD1c.4979A>T (p.Gln1660Leu)
c.494A>T (p.Gln165Leu)
n.5435A>T
c.5543A>T (p.Gln1848Leu)
n.5249A>T
n.5999A>T
n.2771A>T
c.5852A>T (p.Gln1951Leu)
c.5045A>T (p.Gln1682Leu)
c.1346A>T (p.Gln449Leu)
c.5432A>T (p.Gln1811Leu)
c.4796A>T (p.Gln1599Leu)
c.1586A>T (p.Gln529Leu)
5g.177280795G>ACA3577897NSD1c.4980G>A (p.Gln1660=)
c.495G>A (p.Gln165=)
n.5436G>A
c.5544G>A (p.Gln1848=)
n.5250G>A
n.6000G>A
n.2772G>A
c.5853G>A (p.Gln1951=)
c.5046G>A (p.Gln1682=)
c.1347G>A (p.Gln449=)
c.5433G>A (p.Gln1811=)
c.4797G>A (p.Gln1599=)
c.1587G>A (p.Gln529=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280795G>CCA362313730NSD1c.4980G>C (p.Gln1660His)
c.495G>C (p.Gln165His)
n.5436G>C
c.5544G>C (p.Gln1848His)
n.5250G>C
n.6000G>C
n.2772G>C
c.5853G>C (p.Gln1951His)
c.5046G>C (p.Gln1682His)
c.1347G>C (p.Gln449His)
c.5433G>C (p.Gln1811His)
c.4797G>C (p.Gln1599His)
c.1587G>C (p.Gln529His)
5g.177280795G=CA1603550640NSD1c.4980G= (p.Gln1660=)
c.495G= (p.Gln165=)
n.5436G=
c.5544G= (p.Gln1848=)
n.5250G=
n.6000G=
n.2772G=
c.5853G= (p.Gln1951=)
c.5046G= (p.Gln1682=)
c.1347G= (p.Gln449=)
c.5433G= (p.Gln1811=)
c.4797G= (p.Gln1599=)
c.1587G= (p.Gln529=)
5g.177280795G>TCA362313732NSD1c.4980G>T (p.Gln1660His)
c.495G>T (p.Gln165His)
n.5436G>T
c.5544G>T (p.Gln1848His)
n.5250G>T
n.6000G>T
n.2772G>T
c.5853G>T (p.Gln1951His)
c.5046G>T (p.Gln1682His)
c.1347G>T (p.Gln449His)
c.5433G>T (p.Gln1811His)
c.4797G>T (p.Gln1599His)
c.1587G>T (p.Gln529His)
5g.177280796C>ACA447961495NSD1c.4981C>A (p.Arg1661=)
c.496C>A (p.Arg166=)
n.5437C>A
c.5545C>A (p.Arg1849=)
n.5251C>A
n.6001C>A
n.2773C>A
c.5854C>A (p.Arg1952=)
c.5047C>A (p.Arg1683=)
c.1348C>A (p.Arg450=)
c.5434C>A (p.Arg1812=)
c.4798C>A (p.Arg1600=)
c.1588C>A (p.Arg530=)
 dbSNP
5g.177280796C=CA1603550645NSD1c.4981C= (p.Arg1661=)
c.496C= (p.Arg166=)
n.5437C=
c.5545C= (p.Arg1849=)
n.5251C=
n.6001C=
n.2773C=
c.5854C= (p.Arg1952=)
c.5047C= (p.Arg1683=)
c.1348C= (p.Arg450=)
c.5434C= (p.Arg1812=)
c.4798C= (p.Arg1600=)
c.1588C= (p.Arg530=)
5g.177280796C>GCA362313737NSD1c.4981C>G (p.Arg1661Gly)
c.496C>G (p.Arg166Gly)
n.5437C>G
c.5545C>G (p.Arg1849Gly)
n.5251C>G
n.6001C>G
n.2773C>G
c.5854C>G (p.Arg1952Gly)
c.5047C>G (p.Arg1683Gly)
c.1348C>G (p.Arg450Gly)
c.5434C>G (p.Arg1812Gly)
c.4798C>G (p.Arg1600Gly)
c.1588C>G (p.Arg530Gly)
 dbSNP
5g.177280796C>TCA10602921NSD1c.4981C>T (p.Arg1661Trp)
c.496C>T (p.Arg166Trp)
n.5437C>T
c.5545C>T (p.Arg1849Trp)
n.5251C>T
n.6001C>T
n.2773C>T
c.5854C>T (p.Arg1952Trp)
c.5047C>T (p.Arg1683Trp)
c.1348C>T (p.Arg450Trp)
c.5434C>T (p.Arg1812Trp)
c.4798C>T (p.Arg1600Trp)
c.1588C>T (p.Arg530Trp)
 ClinVar dbSNP COSMIC COSMIC
5g.177280797G>ACA362313739NSD1c.4982G>A (p.Arg1661Gln)
c.497G>A (p.Arg166Gln)
n.5438G>A
c.5546G>A (p.Arg1849Gln)
n.5252G>A
n.6002G>A
n.2774G>A
c.5855G>A (p.Arg1952Gln)
c.5048G>A (p.Arg1683Gln)
c.1349G>A (p.Arg450Gln)
c.5435G>A (p.Arg1812Gln)
c.4799G>A (p.Arg1600Gln)
c.1589G>A (p.Arg530Gln)
 ClinVar dbSNP gnomAD v4
5g.177280797G>CCA362313741NSD1c.4982G>C (p.Arg1661Pro)
c.497G>C (p.Arg166Pro)
n.5438G>C
c.5546G>C (p.Arg1849Pro)
n.5252G>C
n.6002G>C
n.2774G>C
c.5855G>C (p.Arg1952Pro)
c.5048G>C (p.Arg1683Pro)
c.1349G>C (p.Arg450Pro)
c.5435G>C (p.Arg1812Pro)
c.4799G>C (p.Arg1600Pro)
c.1589G>C (p.Arg530Pro)
5g.177280797G>TCA362313744NSD1c.4982G>T (p.Arg1661Leu)
c.497G>T (p.Arg166Leu)
n.5438G>T
c.5546G>T (p.Arg1849Leu)
n.5252G>T
n.6002G>T
n.2774G>T
c.5855G>T (p.Arg1952Leu)
c.5048G>T (p.Arg1683Leu)
c.1349G>T (p.Arg450Leu)
c.5435G>T (p.Arg1812Leu)
c.4799G>T (p.Arg1600Leu)
c.1589G>T (p.Arg530Leu)
5g.177280798G>ACA447961498NSD1c.4983G>A (p.Arg1661=)
c.498G>A (p.Arg166=)
n.5439G>A
c.5547G>A (p.Arg1849=)
n.5253G>A
n.6003G>A
n.2775G>A
c.5856G>A (p.Arg1952=)
c.5049G>A (p.Arg1683=)
c.1350G>A (p.Arg450=)
c.5436G>A (p.Arg1812=)
c.4800G>A (p.Arg1600=)
c.1590G>A (p.Arg530=)
5g.177280798G>CCA447961499NSD1c.4983G>C (p.Arg1661=)
c.498G>C (p.Arg166=)
n.5439G>C
c.5547G>C (p.Arg1849=)
n.5253G>C
n.6003G>C
n.2775G>C
c.5856G>C (p.Arg1952=)
c.5049G>C (p.Arg1683=)
c.1350G>C (p.Arg450=)
c.5436G>C (p.Arg1812=)
c.4800G>C (p.Arg1600=)
c.1590G>C (p.Arg530=)
5g.177280798G>TCA447961500NSD1c.4983G>T (p.Arg1661=)
c.498G>T (p.Arg166=)
n.5439G>T
c.5547G>T (p.Arg1849=)
n.5253G>T
n.6003G>T
n.2775G>T
c.5856G>T (p.Arg1952=)
c.5049G>T (p.Arg1683=)
c.1350G>T (p.Arg450=)
c.5436G>T (p.Arg1812=)
c.4800G>T (p.Arg1600=)
c.1590G>T (p.Arg530=)
 COSMIC COSMIC
5g.177280799G>ACA362313747NSD1c.4984G>A (p.Gly1662Ser)
c.499G>A (p.Gly167Ser)
n.5440G>A
c.5548G>A (p.Gly1850Ser)
n.5254G>A
n.6004G>A
n.2776G>A
c.5857G>A (p.Gly1953Ser)
c.5050G>A (p.Gly1684Ser)
c.1351G>A (p.Gly451Ser)
c.5437G>A (p.Gly1813Ser)
c.4801G>A (p.Gly1601Ser)
c.1591G>A (p.Gly531Ser)
5g.177280799G>CCA362313750NSD1c.4984G>C (p.Gly1662Arg)
c.499G>C (p.Gly167Arg)
n.5440G>C
c.5548G>C (p.Gly1850Arg)
n.5254G>C
n.6004G>C
n.2776G>C
c.5857G>C (p.Gly1953Arg)
c.5050G>C (p.Gly1684Arg)
c.1351G>C (p.Gly451Arg)
c.5437G>C (p.Gly1813Arg)
c.4801G>C (p.Gly1601Arg)
c.1591G>C (p.Gly531Arg)
5g.177280799G>TCA362313752NSD1c.4984G>T (p.Gly1662Cys)
c.499G>T (p.Gly167Cys)
n.5440G>T
c.5548G>T (p.Gly1850Cys)
n.5254G>T
n.6004G>T
n.2776G>T
c.5857G>T (p.Gly1953Cys)
c.5050G>T (p.Gly1684Cys)
c.1351G>T (p.Gly451Cys)
c.5437G>T (p.Gly1813Cys)
c.4801G>T (p.Gly1601Cys)
c.1591G>T (p.Gly531Cys)
5g.177280800G>ACA362313756NSD1c.4985G>A (p.Gly1662Asp)
c.500G>A (p.Gly167Asp)
n.5441G>A
c.5549G>A (p.Gly1850Asp)
n.5255G>A
n.6005G>A
n.2777G>A
c.5858G>A (p.Gly1953Asp)
c.5051G>A (p.Gly1684Asp)
c.1352G>A (p.Gly451Asp)
c.5438G>A (p.Gly1813Asp)
c.4802G>A (p.Gly1601Asp)
c.1592G>A (p.Gly531Asp)
 dbSNP gnomAD v4
5g.177280800G>CCA362313759NSD1c.4985G>C (p.Gly1662Ala)
c.500G>C (p.Gly167Ala)
n.5441G>C
c.5549G>C (p.Gly1850Ala)
n.5255G>C
n.6005G>C
n.2777G>C
c.5858G>C (p.Gly1953Ala)
c.5051G>C (p.Gly1684Ala)
c.1352G>C (p.Gly451Ala)
c.5438G>C (p.Gly1813Ala)
c.4802G>C (p.Gly1601Ala)
c.1592G>C (p.Gly531Ala)
 ClinVar dbSNP
5g.177280800G>TCA362313762NSD1c.4985G>T (p.Gly1662Val)
c.500G>T (p.Gly167Val)
n.5441G>T
c.5549G>T (p.Gly1850Val)
n.5255G>T
n.6005G>T
n.2777G>T
c.5858G>T (p.Gly1953Val)
c.5051G>T (p.Gly1684Val)
c.1352G>T (p.Gly451Val)
c.5438G>T (p.Gly1813Val)
c.4802G>T (p.Gly1601Val)
c.1592G>T (p.Gly531Val)
 ClinVar
5g.177280801T>ACA447961501NSD1c.4986T>A (p.Gly1662=)
c.501T>A (p.Gly167=)
n.5442T>A
c.5550T>A (p.Gly1850=)
n.5256T>A
n.6006T>A
n.2778T>A
c.5859T>A (p.Gly1953=)
c.5052T>A (p.Gly1684=)
c.1353T>A (p.Gly451=)
c.5439T>A (p.Gly1813=)
c.4803T>A (p.Gly1601=)
c.1593T>A (p.Gly531=)
5g.177280801T>CCA447961502NSD1c.4986T>C (p.Gly1662=)
c.501T>C (p.Gly167=)
n.5442T>C
c.5550T>C (p.Gly1850=)
n.5256T>C
n.6006T>C
n.2778T>C
c.5859T>C (p.Gly1953=)
c.5052T>C (p.Gly1684=)
c.1353T>C (p.Gly451=)
c.5439T>C (p.Gly1813=)
c.4803T>C (p.Gly1601=)
c.1593T>C (p.Gly531=)
 dbSNP gnomAD v4
5g.177280801T>GCA447961504NSD1c.4986T>G (p.Gly1662=)
c.501T>G (p.Gly167=)
n.5442T>G
c.5550T>G (p.Gly1850=)
n.5256T>G
n.6006T>G
n.2778T>G
c.5859T>G (p.Gly1953=)
c.5052T>G (p.Gly1684=)
c.1353T>G (p.Gly451=)
c.5439T>G (p.Gly1813=)
c.4803T>G (p.Gly1601=)
c.1593T>G (p.Gly531=)
5g.177280801T=CA1603550649NSD1c.4986T= (p.Gly1662=)
c.501T= (p.Gly167=)
n.5442T=
c.5550T= (p.Gly1850=)
n.5256T=
n.6006T=
n.2778T=
c.5859T= (p.Gly1953=)
c.5052T= (p.Gly1684=)
c.1353T= (p.Gly451=)
c.5439T= (p.Gly1813=)
c.4803T= (p.Gly1601=)
c.1593T= (p.Gly531=)
5g.177280802T>ACA362313766NSD1c.4987T>A (p.Trp1663Arg)
c.502T>A (p.Trp168Arg)
n.5443T>A
c.5551T>A (p.Trp1851Arg)
n.5257T>A
n.6007T>A
n.2779T>A
c.5860T>A (p.Trp1954Arg)
c.5053T>A (p.Trp1685Arg)
c.1354T>A (p.Trp452Arg)
c.5440T>A (p.Trp1814Arg)
c.4804T>A (p.Trp1602Arg)
c.1594T>A (p.Trp532Arg)
5g.177280802T>CCA362313772NSD1c.4987T>C (p.Trp1663Arg)
c.502T>C (p.Trp168Arg)
n.5443T>C
c.5551T>C (p.Trp1851Arg)
n.5257T>C
n.6007T>C
n.2779T>C
c.5860T>C (p.Trp1954Arg)
c.5053T>C (p.Trp1685Arg)
c.1354T>C (p.Trp452Arg)
c.5440T>C (p.Trp1814Arg)
c.4804T>C (p.Trp1602Arg)
c.1594T>C (p.Trp532Arg)
5g.177280802T>GCA362313769NSD1c.4987T>G (p.Trp1663Gly)
c.502T>G (p.Trp168Gly)
n.5443T>G
c.5551T>G (p.Trp1851Gly)
n.5257T>G
n.6007T>G
n.2779T>G
c.5860T>G (p.Trp1954Gly)
c.5053T>G (p.Trp1685Gly)
c.1354T>G (p.Trp452Gly)
c.5440T>G (p.Trp1814Gly)
c.4804T>G (p.Trp1602Gly)
c.1594T>G (p.Trp532Gly)
5g.177280803G>ACA362313774NSD1c.4988G>A (p.Trp1663Ter)
c.503G>A (p.Trp168Ter)
n.5444G>A
c.5552G>A (p.Trp1851Ter)
n.5258G>A
n.6008G>A
n.2780G>A
c.5861G>A (p.Trp1954Ter)
c.5054G>A (p.Trp1685Ter)
c.1355G>A (p.Trp452Ter)
c.5441G>A (p.Trp1814Ter)
c.4805G>A (p.Trp1602Ter)
c.1595G>A (p.Trp532Ter)
5g.177280803G>CCA362313775NSD1c.4988G>C (p.Trp1663Ser)
c.503G>C (p.Trp168Ser)
n.5444G>C
c.5552G>C (p.Trp1851Ser)
n.5258G>C
n.6008G>C
n.2780G>C
c.5861G>C (p.Trp1954Ser)
c.5054G>C (p.Trp1685Ser)
c.1355G>C (p.Trp452Ser)
c.5441G>C (p.Trp1814Ser)
c.4805G>C (p.Trp1602Ser)
c.1595G>C (p.Trp532Ser)
5g.177280803G>TCA362313778NSD1c.4988G>T (p.Trp1663Leu)
c.503G>T (p.Trp168Leu)
n.5444G>T
c.5552G>T (p.Trp1851Leu)
n.5258G>T
n.6008G>T
n.2780G>T
c.5861G>T (p.Trp1954Leu)
c.5054G>T (p.Trp1685Leu)
c.1355G>T (p.Trp452Leu)
c.5441G>T (p.Trp1814Leu)
c.4805G>T (p.Trp1602Leu)
c.1595G>T (p.Trp532Leu)
5g.177280804G>ACA362313781NSD1c.4989G>A (p.Trp1663Ter)
c.504G>A (p.Trp168Ter)
n.5445G>A
c.5553G>A (p.Trp1851Ter)
n.5259G>A
n.6009G>A
n.2781G>A
c.5862G>A (p.Trp1954Ter)
c.5055G>A (p.Trp1685Ter)
c.1356G>A (p.Trp452Ter)
c.5442G>A (p.Trp1814Ter)
c.4806G>A (p.Trp1602Ter)
c.1596G>A (p.Trp532Ter)
 ClinVar dbSNP
5g.177280804G>CCA294992NSD1c.4989G>C (p.Trp1663Cys)
c.504G>C (p.Trp168Cys)
n.5445G>C
c.5553G>C (p.Trp1851Cys)
n.5259G>C
n.6009G>C
n.2781G>C
c.5862G>C (p.Trp1954Cys)
c.5055G>C (p.Trp1685Cys)
c.1356G>C (p.Trp452Cys)
c.5442G>C (p.Trp1814Cys)
c.4806G>C (p.Trp1602Cys)
c.1596G>C (p.Trp532Cys)
 ClinVar dbSNP
5g.177280804G=CA1603550652NSD1c.4989G= (p.Trp1663=)
c.504G= (p.Trp168=)
n.5445G=
c.5553G= (p.Trp1851=)
n.5259G=
n.6009G=
n.2781G=
c.5862G= (p.Trp1954=)
c.5055G= (p.Trp1685=)
c.1356G= (p.Trp452=)
c.5442G= (p.Trp1814=)
c.4806G= (p.Trp1602=)
c.1596G= (p.Trp532=)
5g.177280804G>TCA362313786NSD1c.4989G>T (p.Trp1663Cys)
c.504G>T (p.Trp168Cys)
n.5445G>T
c.5553G>T (p.Trp1851Cys)
n.5259G>T
n.6009G>T
n.2781G>T
c.5862G>T (p.Trp1954Cys)
c.5055G>T (p.Trp1685Cys)
c.1356G>T (p.Trp452Cys)
c.5442G>T (p.Trp1814Cys)
c.4806G>T (p.Trp1602Cys)
c.1596G>T (p.Trp532Cys)
5g.177280805G>ACA362313792NSD1c.4990G>A (p.Gly1664Ser)
c.505G>A (p.Gly169Ser)
n.5446G>A
c.5554G>A (p.Gly1852Ser)
n.5260G>A
n.6010G>A
n.2782G>A
c.5863G>A (p.Gly1955Ser)
c.5056G>A (p.Gly1686Ser)
c.1357G>A (p.Gly453Ser)
c.5443G>A (p.Gly1815Ser)
c.4807G>A (p.Gly1603Ser)
c.1597G>A (p.Gly533Ser)
5g.177280805G>CCA362313788NSD1c.4990G>C (p.Gly1664Arg)
c.505G>C (p.Gly169Arg)
n.5446G>C
c.5554G>C (p.Gly1852Arg)
n.5260G>C
n.6010G>C
n.2782G>C
c.5863G>C (p.Gly1955Arg)
c.5056G>C (p.Gly1686Arg)
c.1357G>C (p.Gly453Arg)
c.5443G>C (p.Gly1815Arg)
c.4807G>C (p.Gly1603Arg)
c.1597G>C (p.Gly533Arg)
5g.177280805G>TCA362313790NSD1c.4990G>T (p.Gly1664Cys)
c.505G>T (p.Gly169Cys)
n.5446G>T
c.5554G>T (p.Gly1852Cys)
n.5260G>T
n.6010G>T
n.2782G>T
c.5863G>T (p.Gly1955Cys)
c.5056G>T (p.Gly1686Cys)
c.1357G>T (p.Gly453Cys)
c.5443G>T (p.Gly1815Cys)
c.4807G>T (p.Gly1603Cys)
c.1597G>T (p.Gly533Cys)
5g.177280806G>ACA362313796NSD1c.4991G>A (p.Gly1664Asp)
c.506G>A (p.Gly169Asp)
n.5447G>A
c.5555G>A (p.Gly1852Asp)
n.5261G>A
n.6011G>A
n.2783G>A
c.5864G>A (p.Gly1955Asp)
c.5057G>A (p.Gly1686Asp)
c.1358G>A (p.Gly453Asp)
c.5444G>A (p.Gly1815Asp)
c.4808G>A (p.Gly1603Asp)
c.1598G>A (p.Gly533Asp)
 dbSNP
5g.177280806G>CCA362313798NSD1c.4991G>C (p.Gly1664Ala)
c.506G>C (p.Gly169Ala)
n.5447G>C
c.5555G>C (p.Gly1852Ala)
n.5261G>C
n.6011G>C
n.2783G>C
c.5864G>C (p.Gly1955Ala)
c.5057G>C (p.Gly1686Ala)
c.1358G>C (p.Gly453Ala)
c.5444G>C (p.Gly1815Ala)
c.4808G>C (p.Gly1603Ala)
c.1598G>C (p.Gly533Ala)
5g.177280806G>TCA362313799NSD1c.4991G>T (p.Gly1664Val)
c.506G>T (p.Gly169Val)
n.5447G>T
c.5555G>T (p.Gly1852Val)
n.5261G>T
n.6011G>T
n.2783G>T
c.5864G>T (p.Gly1955Val)
c.5057G>T (p.Gly1686Val)
c.1358G>T (p.Gly453Val)
c.5444G>T (p.Gly1815Val)
c.4808G>T (p.Gly1603Val)
c.1598G>T (p.Gly533Val)
 COSMIC COSMIC
5g.177280807_177280812delCA2573332866NSD1c.4992_4997del (p.Leu1665_Arg1666del)
c.507_512del (p.Leu170_Arg171del)
n.5448_5453del
c.5556_5561del (p.Leu1853_Arg1854del)
n.5262_5267del
n.6012_6017del
n.2784_2789del
c.5865_5870del (p.Leu1956_Arg1957del)
c.5058_5063del (p.Leu1687_Arg1688del)
c.1359_1364del (p.Leu454_Arg455del)
c.5445_5450del (p.Leu1816_Arg1817del)
c.4809_4814del (p.Leu1604_Arg1605del)
c.1599_1604del (p.Leu534_Arg535del)
5g.177280807T>ACA447961508NSD1c.4992T>A (p.Gly1664=)
c.507T>A (p.Gly169=)
n.5448T>A
c.5556T>A (p.Gly1852=)
n.5262T>A
n.6012T>A
n.2784T>A
c.5865T>A (p.Gly1955=)
c.5058T>A (p.Gly1686=)
c.1359T>A (p.Gly453=)
c.5445T>A (p.Gly1815=)
c.4809T>A (p.Gly1603=)
c.1599T>A (p.Gly533=)
 dbSNP
5g.177280807T>CCA447961509NSD1c.4992T>C (p.Gly1664=)
c.507T>C (p.Gly169=)
n.5448T>C
c.5556T>C (p.Gly1852=)
n.5262T>C
n.6012T>C
n.2784T>C
c.5865T>C (p.Gly1955=)
c.5058T>C (p.Gly1686=)
c.1359T>C (p.Gly453=)
c.5445T>C (p.Gly1815=)
c.4809T>C (p.Gly1603=)
c.1599T>C (p.Gly533=)
5g.177280807T>GCA447961510NSD1c.4992T>G (p.Gly1664=)
c.507T>G (p.Gly169=)
n.5448T>G
c.5556T>G (p.Gly1852=)
n.5262T>G
n.6012T>G
n.2784T>G
c.5865T>G (p.Gly1955=)
c.5058T>G (p.Gly1686=)
c.1359T>G (p.Gly453=)
c.5445T>G (p.Gly1815=)
c.4809T>G (p.Gly1603=)
c.1599T>G (p.Gly533=)
5g.177280808C>ACA362313803NSD1c.4993C>A (p.Leu1665Ile)
c.508C>A (p.Leu170Ile)
n.5449C>A
c.5557C>A (p.Leu1853Ile)
n.5263C>A
n.6013C>A
n.2785C>A
c.5866C>A (p.Leu1956Ile)
c.5059C>A (p.Leu1687Ile)
c.1360C>A (p.Leu454Ile)
c.5446C>A (p.Leu1816Ile)
c.4810C>A (p.Leu1604Ile)
c.1600C>A (p.Leu534Ile)
5g.177280808C>GCA362313806NSD1c.4993C>G (p.Leu1665Val)
c.508C>G (p.Leu170Val)
n.5449C>G
c.5557C>G (p.Leu1853Val)
n.5263C>G
n.6013C>G
n.2785C>G
c.5866C>G (p.Leu1956Val)
c.5059C>G (p.Leu1687Val)
c.1360C>G (p.Leu454Val)
c.5446C>G (p.Leu1816Val)
c.4810C>G (p.Leu1604Val)
c.1600C>G (p.Leu534Val)
 dbSNP
5g.177280808C>TCA447961512NSD1c.4993C>T (p.Leu1665=)
c.508C>T (p.Leu170=)
n.5449C>T
c.5557C>T (p.Leu1853=)
n.5263C>T
n.6013C>T
n.2785C>T
c.5866C>T (p.Leu1956=)
c.5059C>T (p.Leu1687=)
c.1360C>T (p.Leu454=)
c.5446C>T (p.Leu1816=)
c.4810C>T (p.Leu1604=)
c.1600C>T (p.Leu534=)
5g.177280809T>ACA362313815NSD1c.4994T>A (p.Leu1665Gln)
c.509T>A (p.Leu170Gln)
n.5450T>A
c.5558T>A (p.Leu1853Gln)
n.5264T>A
n.6014T>A
n.2786T>A
c.5867T>A (p.Leu1956Gln)
c.5060T>A (p.Leu1687Gln)
c.1361T>A (p.Leu454Gln)
c.5447T>A (p.Leu1816Gln)
c.4811T>A (p.Leu1604Gln)
c.1601T>A (p.Leu534Gln)
5g.177280809T>CCA362313809NSD1c.4994T>C (p.Leu1665Pro)
c.509T>C (p.Leu170Pro)
n.5450T>C
c.5558T>C (p.Leu1853Pro)
n.5264T>C
n.6014T>C
n.2786T>C
c.5867T>C (p.Leu1956Pro)
c.5060T>C (p.Leu1687Pro)
c.1361T>C (p.Leu454Pro)
c.5447T>C (p.Leu1816Pro)
c.4811T>C (p.Leu1604Pro)
c.1601T>C (p.Leu534Pro)
5g.177280809T>GCA362313811NSD1c.4994T>G (p.Leu1665Arg)
c.509T>G (p.Leu170Arg)
n.5450T>G
c.5558T>G (p.Leu1853Arg)
n.5264T>G
n.6014T>G
n.2786T>G
c.5867T>G (p.Leu1956Arg)
c.5060T>G (p.Leu1687Arg)
c.1361T>G (p.Leu454Arg)
c.5447T>G (p.Leu1816Arg)
c.4811T>G (p.Leu1604Arg)
c.1601T>G (p.Leu534Arg)
5g.177280810A=CA1603550658NSD1c.4995A= (p.Leu1665=)
c.510A= (p.Leu170=)
n.5451A=
c.5559A= (p.Leu1853=)
n.5265A=
n.6015A=
n.2787A=
c.5868A= (p.Leu1956=)
c.5061A= (p.Leu1687=)
c.1362A= (p.Leu454=)
c.5448A= (p.Leu1816=)
c.4812A= (p.Leu1604=)
c.1602A= (p.Leu534=)
5g.177280810A>CCA447961513NSD1c.4995A>C (p.Leu1665=)
c.510A>C (p.Leu170=)
n.5451A>C
c.5559A>C (p.Leu1853=)
n.5265A>C
n.6015A>C
n.2787A>C
c.5868A>C (p.Leu1956=)
c.5061A>C (p.Leu1687=)
c.1362A>C (p.Leu454=)
c.5448A>C (p.Leu1816=)
c.4812A>C (p.Leu1604=)
c.1602A>C (p.Leu534=)
5g.177280810A>GCA3577898NSD1c.4995A>G (p.Leu1665=)
c.510A>G (p.Leu170=)
n.5451A>G
c.5559A>G (p.Leu1853=)
n.5265A>G
n.6015A>G
n.2787A>G
c.5868A>G (p.Leu1956=)
c.5061A>G (p.Leu1687=)
c.1362A>G (p.Leu454=)
c.5448A>G (p.Leu1816=)
c.4812A>G (p.Leu1604=)
c.1602A>G (p.Leu534=)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.177280810A>TCA447961514NSD1c.4995A>T (p.Leu1665=)
c.510A>T (p.Leu170=)
n.5451A>T
c.5559A>T (p.Leu1853=)
n.5265A>T
n.6015A>T
n.2787A>T
c.5868A>T (p.Leu1956=)
c.5061A>T (p.Leu1687=)
c.1362A>T (p.Leu454=)
c.5448A>T (p.Leu1816=)
c.4812A>T (p.Leu1604=)
c.1602A>T (p.Leu534=)
5g.177280811C>ACA447961516NSD1c.4996C>A (p.Arg1666=)
c.511C>A (p.Arg171=)
n.5452C>A
c.5560C>A (p.Arg1854=)
n.5266C>A
n.6016C>A
n.2788C>A
c.5869C>A (p.Arg1957=)
c.5062C>A (p.Arg1688=)
c.1363C>A (p.Arg455=)
c.5449C>A (p.Arg1817=)
c.4813C>A (p.Arg1605=)
c.1603C>A (p.Arg535=)
5g.177280811C=CA1603550661NSD1c.4996C= (p.Arg1666=)
c.511C= (p.Arg171=)
n.5452C=
c.5560C= (p.Arg1854=)
n.5266C=
n.6016C=
n.2788C=
c.5869C= (p.Arg1957=)
c.5062C= (p.Arg1688=)
c.1363C= (p.Arg455=)
c.5449C= (p.Arg1817=)
c.4813C= (p.Arg1605=)
c.1603C= (p.Arg535=)
5g.177280811C>GCA362313821NSD1c.4996C>G (p.Arg1666Gly)
c.511C>G (p.Arg171Gly)
n.5452C>G
c.5560C>G (p.Arg1854Gly)
n.5266C>G
n.6016C>G
n.2788C>G
c.5869C>G (p.Arg1957Gly)
c.5062C>G (p.Arg1688Gly)
c.1363C>G (p.Arg455Gly)
c.5449C>G (p.Arg1817Gly)
c.4813C>G (p.Arg1605Gly)
c.1603C>G (p.Arg535Gly)
5g.177280811C>TCA172840NSD1c.4996C>T (p.Arg1666Trp)
c.511C>T (p.Arg171Trp)
n.5452C>T
c.5560C>T (p.Arg1854Trp)
n.5266C>T
n.6016C>T
n.2788C>T
c.5869C>T (p.Arg1957Trp)
c.5062C>T (p.Arg1688Trp)
c.1363C>T (p.Arg455Trp)
c.5449C>T (p.Arg1817Trp)
c.4813C>T (p.Arg1605Trp)
c.1603C>T (p.Arg535Trp)
 ClinVar dbSNP gnomAD v4
5g.177280812G>ACA3577899NSD1c.4997G>A (p.Arg1666Gln)
c.512G>A (p.Arg171Gln)
n.5453G>A
c.5561G>A (p.Arg1854Gln)
n.5267G>A
n.6017G>A
n.2789G>A
c.5870G>A (p.Arg1957Gln)
c.5063G>A (p.Arg1688Gln)
c.1364G>A (p.Arg455Gln)
c.5450G>A (p.Arg1817Gln)
c.4814G>A (p.Arg1605Gln)
c.1604G>A (p.Arg535Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.177280812G>CCA362313827NSD1c.4997G>C (p.Arg1666Pro)
c.512G>C (p.Arg171Pro)
n.5453G>C
c.5561G>C (p.Arg1854Pro)
n.5267G>C
n.6017G>C
n.2789G>C
c.5870G>C (p.Arg1957Pro)
c.5063G>C (p.Arg1688Pro)
c.1364G>C (p.Arg455Pro)
c.5450G>C (p.Arg1817Pro)
c.4814G>C (p.Arg1605Pro)
c.1604G>C (p.Arg535Pro)
5g.177280812G=CA1603550665NSD1c.4997G= (p.Arg1666=)
c.512G= (p.Arg171=)
n.5453G=
c.5561G= (p.Arg1854=)
n.5267G=
n.6017G=
n.2789G=
c.5870G= (p.Arg1957=)
c.5063G= (p.Arg1688=)
c.1364G= (p.Arg455=)
c.5450G= (p.Arg1817=)
c.4814G= (p.Arg1605=)
c.1604G= (p.Arg535=)
5g.177280812G>TCA362313830NSD1c.4997G>T (p.Arg1666Leu)
c.512G>T (p.Arg171Leu)
n.5453G>T
c.5561G>T (p.Arg1854Leu)
n.5267G>T
n.6017G>T
n.2789G>T
c.5870G>T (p.Arg1957Leu)
c.5063G>T (p.Arg1688Leu)
c.1364G>T (p.Arg455Leu)
c.5450G>T (p.Arg1817Leu)
c.4814G>T (p.Arg1605Leu)
c.1604G>T (p.Arg535Leu)
5g.177280813G>ACA447961517NSD1c.4998G>A (p.Arg1666=)
c.513G>A (p.Arg171=)
n.5454G>A
c.5562G>A (p.Arg1854=)
n.5268G>A
n.6018G>A
n.2790G>A
c.5871G>A (p.Arg1957=)
c.5064G>A (p.Arg1688=)
c.1365G>A (p.Arg455=)
c.5451G>A (p.Arg1817=)
c.4815G>A (p.Arg1605=)
c.1605G>A (p.Arg535=)
 gnomAD v4
5g.177280813G>CCA447961518NSD1c.4998G>C (p.Arg1666=)
c.513G>C (p.Arg171=)
n.5454G>C
c.5562G>C (p.Arg1854=)
n.5268G>C
n.6018G>C
n.2790G>C
c.5871G>C (p.Arg1957=)
c.5064G>C (p.Arg1688=)
c.1365G>C (p.Arg455=)
c.5451G>C (p.Arg1817=)
c.4815G>C (p.Arg1605=)
c.1605G>C (p.Arg535=)
5g.177280813G>TCA447961520NSD1c.4998G>T (p.Arg1666=)
c.513G>T (p.Arg171=)
n.5454G>T
c.5562G>T (p.Arg1854=)
n.5268G>T
n.6018G>T
n.2790G>T
c.5871G>T (p.Arg1957=)
c.5064G>T (p.Arg1688=)
c.1365G>T (p.Arg455=)
c.5451G>T (p.Arg1817=)
c.4815G>T (p.Arg1605=)
c.1605G>T (p.Arg535=)
5g.177280814A>CCA362313834NSD1c.4999A>C (p.Thr1667Pro)
c.514A>C (p.Thr172Pro)
n.5455A>C
c.5563A>C (p.Thr1855Pro)
n.5269A>C
n.6019A>C
n.2791A>C
c.5872A>C (p.Thr1958Pro)
c.5065A>C (p.Thr1689Pro)
c.1366A>C (p.Thr456Pro)
c.5452A>C (p.Thr1818Pro)
c.4816A>C (p.Thr1606Pro)
c.1606A>C (p.Thr536Pro)
5g.177280814A>GCA362313836NSD1c.4999A>G (p.Thr1667Ala)
c.514A>G (p.Thr172Ala)
n.5455A>G
c.5563A>G (p.Thr1855Ala)
n.5269A>G
n.6019A>G
n.2791A>G
c.5872A>G (p.Thr1958Ala)
c.5065A>G (p.Thr1689Ala)
c.1366A>G (p.Thr456Ala)
c.5452A>G (p.Thr1818Ala)
c.4816A>G (p.Thr1606Ala)
c.1606A>G (p.Thr536Ala)
5g.177280814A>TCA362313838NSD1c.4999A>T (p.Thr1667Ser)
c.514A>T (p.Thr172Ser)
n.5455A>T
c.5563A>T (p.Thr1855Ser)
n.5269A>T
n.6019A>T
n.2791A>T
c.5872A>T (p.Thr1958Ser)
c.5065A>T (p.Thr1689Ser)
c.1366A>T (p.Thr456Ser)
c.5452A>T (p.Thr1818Ser)
c.4816A>T (p.Thr1606Ser)
c.1606A>T (p.Thr536Ser)
5g.177280815C>ACA362313841NSD1c.5000C>A (p.Thr1667Lys)
c.515C>A (p.Thr172Lys)
n.5456C>A
c.5564C>A (p.Thr1855Lys)
n.5270C>A
n.6020C>A
n.2792C>A
c.5873C>A (p.Thr1958Lys)
c.5066C>A (p.Thr1689Lys)
c.1367C>A (p.Thr456Lys)
c.5453C>A (p.Thr1818Lys)
c.4817C>A (p.Thr1606Lys)
c.1607C>A (p.Thr536Lys)
5g.177280815C>GCA362313851NSD1c.5000C>G (p.Thr1667Arg)
c.515C>G (p.Thr172Arg)
n.5456C>G
c.5564C>G (p.Thr1855Arg)
n.5270C>G
n.6020C>G
n.2792C>G
c.5873C>G (p.Thr1958Arg)
c.5066C>G (p.Thr1689Arg)
c.1367C>G (p.Thr456Arg)
c.5453C>G (p.Thr1818Arg)
c.4817C>G (p.Thr1606Arg)
c.1607C>G (p.Thr536Arg)
5g.177280815C>TCA362313854NSD1c.5000C>T (p.Thr1667Ile)
c.515C>T (p.Thr172Ile)
n.5456C>T
c.5564C>T (p.Thr1855Ile)
n.5270C>T
n.6020C>T
n.2792C>T
c.5873C>T (p.Thr1958Ile)
c.5066C>T (p.Thr1689Ile)
c.1367C>T (p.Thr456Ile)
c.5453C>T (p.Thr1818Ile)
c.4817C>T (p.Thr1606Ile)
c.1607C>T (p.Thr536Ile)
5g.177280816A>CCA447961525NSD1c.5001A>C (p.Thr1667=)
c.516A>C (p.Thr172=)
n.5457A>C
c.5565A>C (p.Thr1855=)
n.5271A>C
n.6021A>C
n.2793A>C
c.5874A>C (p.Thr1958=)
c.5067A>C (p.Thr1689=)
c.1368A>C (p.Thr456=)
c.5454A>C (p.Thr1818=)
c.4818A>C (p.Thr1606=)
c.1608A>C (p.Thr536=)
 gnomAD v4
5g.177280816A>GCA447961523NSD1c.5001A>G (p.Thr1667=)
c.516A>G (p.Thr172=)
n.5457A>G
c.5565A>G (p.Thr1855=)
n.5271A>G
n.6021A>G
n.2793A>G
c.5874A>G (p.Thr1958=)
c.5067A>G (p.Thr1689=)
c.1368A>G (p.Thr456=)
c.5454A>G (p.Thr1818=)
c.4818A>G (p.Thr1606=)
c.1608A>G (p.Thr536=)
5g.177280816A>TCA447961522NSD1c.5001A>T (p.Thr1667=)
c.516A>T (p.Thr172=)
n.5457A>T
c.5565A>T (p.Thr1855=)
n.5271A>T
n.6021A>T
n.2793A>T
c.5874A>T (p.Thr1958=)
c.5067A>T (p.Thr1689=)
c.1368A>T (p.Thr456=)
c.5454A>T (p.Thr1818=)
c.4818A>T (p.Thr1606=)
c.1608A>T (p.Thr536=)
5g.177280820delCA2711004381NSD1c.5005del (p.Thr1669GlnfsTer9)
c.520del (p.Thr174GlnfsTer9)
n.5461del
c.5569del (p.Thr1857GlnfsTer9)
n.5275del
n.6025del
n.2797del
c.5878del (p.Thr1960GlnfsTer9)
c.5071del (p.Thr1691GlnfsTer9)
c.1372del (p.Thr458GlnfsTer9)
c.5458del (p.Thr1820GlnfsTer9)
c.4822del (p.Thr1608GlnfsTer9)
c.1612del (p.Thr538GlnfsTer9)
 dbSNP
5g.177280817A>CCA362313858NSD1c.5002A>C (p.Lys1668Gln)
c.517A>C (p.Lys173Gln)
n.5458A>C
c.5566A>C (p.Lys1856Gln)
n.5272A>C
n.6022A>C
n.2794A>C
c.5875A>C (p.Lys1959Gln)
c.5068A>C (p.Lys1690Gln)
c.1369A>C (p.Lys457Gln)
c.5455A>C (p.Lys1819Gln)
c.4819A>C (p.Lys1607Gln)
c.1609A>C (p.Lys537Gln)
5g.177280817A>GCA362313860NSD1c.5002A>G (p.Lys1668Glu)
c.517A>G (p.Lys173Glu)
n.5458A>G
c.5566A>G (p.Lys1856Glu)
n.5272A>G
n.6022A>G
n.2794A>G
c.5875A>G (p.Lys1959Glu)
c.5068A>G (p.Lys1690Glu)
c.1369A>G (p.Lys457Glu)
c.5455A>G (p.Lys1819Glu)
c.4819A>G (p.Lys1607Glu)
c.1609A>G (p.Lys537Glu)
 gnomAD v4
5g.177280817A>TCA362313859NSD1c.5002A>T (p.Lys1668Ter)
c.517A>T (p.Lys173Ter)
n.5458A>T
c.5566A>T (p.Lys1856Ter)
n.5272A>T
n.6022A>T
n.2794A>T
c.5875A>T (p.Lys1959Ter)
c.5068A>T (p.Lys1690Ter)
c.1369A>T (p.Lys457Ter)
c.5455A>T (p.Lys1819Ter)
c.4819A>T (p.Lys1607Ter)
c.1609A>T (p.Lys537Ter)
5g.177280818A>CCA362313865NSD1c.5003A>C (p.Lys1668Thr)
c.518A>C (p.Lys173Thr)
n.5459A>C
c.5567A>C (p.Lys1856Thr)
n.5273A>C
n.6023A>C
n.2795A>C
c.5876A>C (p.Lys1959Thr)
c.5069A>C (p.Lys1690Thr)
c.1370A>C (p.Lys457Thr)
c.5456A>C (p.Lys1819Thr)
c.4820A>C (p.Lys1607Thr)
c.1610A>C (p.Lys537Thr)
5g.177280818A>GCA362313866NSD1c.5003A>G (p.Lys1668Arg)
c.518A>G (p.Lys173Arg)
n.5459A>G
c.5567A>G (p.Lys1856Arg)
n.5273A>G
n.6023A>G
n.2795A>G
c.5876A>G (p.Lys1959Arg)
c.5069A>G (p.Lys1690Arg)
c.1370A>G (p.Lys457Arg)
c.5456A>G (p.Lys1819Arg)
c.4820A>G (p.Lys1607Arg)
c.1610A>G (p.Lys537Arg)
5g.177280818A>TCA362313868NSD1c.5003A>T (p.Lys1668Ile)
c.518A>T (p.Lys173Ile)
n.5459A>T
c.5567A>T (p.Lys1856Ile)
n.5273A>T
n.6023A>T
n.2795A>T
c.5876A>T (p.Lys1959Ile)
c.5069A>T (p.Lys1690Ile)
c.1370A>T (p.Lys457Ile)
c.5456A>T (p.Lys1819Ile)
c.4820A>T (p.Lys1607Ile)
c.1610A>T (p.Lys537Ile)
5g.177280819A=CA1603550668NSD1c.5004A= (p.Lys1668=)
c.519A= (p.Lys173=)
n.5460A=
c.5568A= (p.Lys1856=)
n.5274A=
n.6024A=
n.2796A=
c.5877A= (p.Lys1959=)
c.5070A= (p.Lys1690=)
c.1371A= (p.Lys457=)
c.5457A= (p.Lys1819=)
c.4821A= (p.Lys1607=)
c.1611A= (p.Lys537=)
5g.177280819A>CCA362313869NSD1c.5004A>C (p.Lys1668Asn)
c.519A>C (p.Lys173Asn)
n.5460A>C
c.5568A>C (p.Lys1856Asn)
n.5274A>C
n.6024A>C
n.2796A>C
c.5877A>C (p.Lys1959Asn)
c.5070A>C (p.Lys1690Asn)
c.1371A>C (p.Lys457Asn)
c.5457A>C (p.Lys1819Asn)
c.4821A>C (p.Lys1607Asn)
c.1611A>C (p.Lys537Asn)
5g.177280819A>GCA447961526NSD1c.5004A>G (p.Lys1668=)
c.519A>G (p.Lys173=)
n.5460A>G
c.5568A>G (p.Lys1856=)
n.5274A>G
n.6024A>G
n.2796A>G
c.5877A>G (p.Lys1959=)
c.5070A>G (p.Lys1690=)
c.1371A>G (p.Lys457=)
c.5457A>G (p.Lys1819=)
c.4821A>G (p.Lys1607=)
c.1611A>G (p.Lys537=)
 dbSNP gnomAD v2
5g.177280819A>TCA362313872NSD1c.5004A>T (p.Lys1668Asn)
c.519A>T (p.Lys173Asn)
n.5460A>T
c.5568A>T (p.Lys1856Asn)
n.5274A>T
n.6024A>T
n.2796A>T
c.5877A>T (p.Lys1959Asn)
c.5070A>T (p.Lys1690Asn)
c.1371A>T (p.Lys457Asn)
c.5457A>T (p.Lys1819Asn)
c.4821A>T (p.Lys1607Asn)
c.1611A>T (p.Lys537Asn)
5g.177280820A>CCA362313876NSD1c.5005A>C (p.Thr1669Pro)
c.520A>C (p.Thr174Pro)
n.5461A>C
c.5569A>C (p.Thr1857Pro)
n.5275A>C
n.6025A>C
n.2797A>C
c.5878A>C (p.Thr1960Pro)
c.5071A>C (p.Thr1691Pro)
c.1372A>C (p.Thr458Pro)
c.5458A>C (p.Thr1820Pro)
c.4822A>C (p.Thr1608Pro)
c.1612A>C (p.Thr538Pro)
5g.177280820A>GCA362313878NSD1c.5005A>G (p.Thr1669Ala)
c.520A>G (p.Thr174Ala)
n.5461A>G
c.5569A>G (p.Thr1857Ala)
n.5275A>G
n.6025A>G
n.2797A>G
c.5878A>G (p.Thr1960Ala)
c.5071A>G (p.Thr1691Ala)
c.1372A>G (p.Thr458Ala)
c.5458A>G (p.Thr1820Ala)
c.4822A>G (p.Thr1608Ala)
c.1612A>G (p.Thr538Ala)
 ClinVar
5g.177280820A>TCA362313880NSD1c.5005A>T (p.Thr1669Ser)
c.520A>T (p.Thr174Ser)
n.5461A>T
c.5569A>T (p.Thr1857Ser)
n.5275A>T
n.6025A>T
n.2797A>T
c.5878A>T (p.Thr1960Ser)
c.5071A>T (p.Thr1691Ser)
c.1372A>T (p.Thr458Ser)
c.5458A>T (p.Thr1820Ser)
c.4822A>T (p.Thr1608Ser)
c.1612A>T (p.Thr538Ser)
5g.177280821C>ACA362313883NSD1c.5006C>A (p.Thr1669Lys)
c.521C>A (p.Thr174Lys)
n.5462C>A
c.5570C>A (p.Thr1857Lys)
n.5276C>A
n.6026C>A
n.2798C>A
c.5879C>A (p.Thr1960Lys)
c.5072C>A (p.Thr1691Lys)
c.1373C>A (p.Thr458Lys)
c.5459C>A (p.Thr1820Lys)
c.4823C>A (p.Thr1608Lys)
c.1613C>A (p.Thr538Lys)
5g.177280821C>GCA362313886NSD1c.5006C>G (p.Thr1669Arg)
c.521C>G (p.Thr174Arg)
n.5462C>G
c.5570C>G (p.Thr1857Arg)
n.5276C>G
n.6026C>G
n.2798C>G
c.5879C>G (p.Thr1960Arg)
c.5072C>G (p.Thr1691Arg)
c.1373C>G (p.Thr458Arg)
c.5459C>G (p.Thr1820Arg)
c.4823C>G (p.Thr1608Arg)
c.1613C>G (p.Thr538Arg)
 gnomAD v4
5g.177280821C>TCA362313888NSD1c.5006C>T (p.Thr1669Ile)
c.521C>T (p.Thr174Ile)
n.5462C>T
c.5570C>T (p.Thr1857Ile)
n.5276C>T
n.6026C>T
n.2798C>T
c.5879C>T (p.Thr1960Ile)
c.5072C>T (p.Thr1691Ile)
c.1373C>T (p.Thr458Ile)
c.5459C>T (p.Thr1820Ile)
c.4823C>T (p.Thr1608Ile)
c.1613C>T (p.Thr538Ile)
5g.177280822A>CCA447961530NSD1c.5007A>C (p.Thr1669=)
c.522A>C (p.Thr174=)
n.5463A>C
c.5571A>C (p.Thr1857=)
n.5277A>C
n.6027A>C
n.2799A>C
c.5880A>C (p.Thr1960=)
c.5073A>C (p.Thr1691=)
c.1374A>C (p.Thr458=)
c.5460A>C (p.Thr1820=)
c.4824A>C (p.Thr1608=)
c.1614A>C (p.Thr538=)
5g.177280822A>GCA447961531NSD1c.5007A>G (p.Thr1669=)
c.522A>G (p.Thr174=)
n.5463A>G
c.5571A>G (p.Thr1857=)
n.5277A>G
n.6027A>G
n.2799A>G
c.5880A>G (p.Thr1960=)
c.5073A>G (p.Thr1691=)
c.1374A>G (p.Thr458=)
c.5460A>G (p.Thr1820=)
c.4824A>G (p.Thr1608=)
c.1614A>G (p.Thr538=)
5g.177280822A>TCA447961532NSD1c.5007A>T (p.Thr1669=)
c.522A>T (p.Thr174=)
n.5463A>T
c.5571A>T (p.Thr1857=)
n.5277A>T
n.6027A>T
n.2799A>T
c.5880A>T (p.Thr1960=)
c.5073A>T (p.Thr1691=)
c.1374A>T (p.Thr458=)
c.5460A>T (p.Thr1820=)
c.4824A>T (p.Thr1608=)
c.1614A>T (p.Thr538=)
 dbSNP gnomAD v4
5g.177280823G>ACA362313898NSD1c.5008G>A (p.Asp1670Asn)
c.523G>A (p.Asp175Asn)
n.5464G>A
c.5572G>A (p.Asp1858Asn)
n.5278G>A
n.6028G>A
n.2800G>A
c.5881G>A (p.Asp1961Asn)
c.5074G>A (p.Asp1692Asn)
c.1375G>A (p.Asp459Asn)
c.5461G>A (p.Asp1821Asn)
c.4825G>A (p.Asp1609Asn)
c.1615G>A (p.Asp539Asn)
 dbSNP
5g.177280823G>CCA362313895NSD1c.5008G>C (p.Asp1670His)
c.523G>C (p.Asp175His)
n.5464G>C
c.5572G>C (p.Asp1858His)
n.5278G>C
n.6028G>C
n.2800G>C
c.5881G>C (p.Asp1961His)
c.5074G>C (p.Asp1692His)
c.1375G>C (p.Asp459His)
c.5461G>C (p.Asp1821His)
c.4825G>C (p.Asp1609His)
c.1615G>C (p.Asp539His)
5g.177280823G=CA1603550670NSD1c.5008G= (p.Asp1670=)
c.523G= (p.Asp175=)
n.5464G=
c.5572G= (p.Asp1858=)
n.5278G=
n.6028G=
n.2800G=
c.5881G= (p.Asp1961=)
c.5074G= (p.Asp1692=)
c.1375G= (p.Asp459=)
c.5461G= (p.Asp1821=)
c.4825G= (p.Asp1609=)
c.1615G= (p.Asp539=)
5g.177280823G>TCA362313892NSD1c.5008G>T (p.Asp1670Tyr)
c.523G>T (p.Asp175Tyr)
n.5464G>T
c.5572G>T (p.Asp1858Tyr)
n.5278G>T
n.6028G>T
n.2800G>T
c.5881G>T (p.Asp1961Tyr)
c.5074G>T (p.Asp1692Tyr)
c.1375G>T (p.Asp459Tyr)
c.5461G>T (p.Asp1821Tyr)
c.4825G>T (p.Asp1609Tyr)
c.1615G>T (p.Asp539Tyr)
5g.177280824A>CCA362313902NSD1c.5009A>C (p.Asp1670Ala)
c.524A>C (p.Asp175Ala)
n.5465A>C
c.5573A>C (p.Asp1858Ala)
n.5279A>C
n.6029A>C
n.2801A>C
c.5882A>C (p.Asp1961Ala)
c.5075A>C (p.Asp1692Ala)
c.1376A>C (p.Asp459Ala)
c.5462A>C (p.Asp1821Ala)
c.4826A>C (p.Asp1609Ala)
c.1616A>C (p.Asp539Ala)
5g.177280824A>GCA362313905NSD1c.5009A>G (p.Asp1670Gly)
c.524A>G (p.Asp175Gly)
n.5465A>G
c.5573A>G (p.Asp1858Gly)
n.5279A>G
n.6029A>G
n.2801A>G
c.5882A>G (p.Asp1961Gly)
c.5075A>G (p.Asp1692Gly)
c.1376A>G (p.Asp459Gly)
c.5462A>G (p.Asp1821Gly)
c.4826A>G (p.Asp1609Gly)
c.1616A>G (p.Asp539Gly)
5g.177280824A>TCA362313908NSD1c.5009A>T (p.Asp1670Val)
c.524A>T (p.Asp175Val)
n.5465A>T
c.5573A>T (p.Asp1858Val)
n.5279A>T
n.6029A>T
n.2801A>T
c.5882A>T (p.Asp1961Val)
c.5075A>T (p.Asp1692Val)
c.1376A>T (p.Asp459Val)
c.5462A>T (p.Asp1821Val)
c.4826A>T (p.Asp1609Val)
c.1616A>T (p.Asp539Val)
5g.177280825T>ACA362313911NSD1c.5010T>A (p.Asp1670Glu)
c.525T>A (p.Asp175Glu)
n.5466T>A
c.5574T>A (p.Asp1858Glu)
n.5280T>A
n.6030T>A
n.2802T>A
c.5883T>A (p.Asp1961Glu)
c.5076T>A (p.Asp1692Glu)
c.1377T>A (p.Asp459Glu)
c.5463T>A (p.Asp1821Glu)
c.4827T>A (p.Asp1609Glu)
c.1617T>A (p.Asp539Glu)
 dbSNP
5g.177280825T>CCA447961536NSD1c.5010T>C (p.Asp1670=)
c.525T>C (p.Asp175=)
n.5466T>C
c.5574T>C (p.Asp1858=)
n.5280T>C
n.6030T>C
n.2802T>C
c.5883T>C (p.Asp1961=)
c.5076T>C (p.Asp1692=)
c.1377T>C (p.Asp459=)
c.5463T>C (p.Asp1821=)
c.4827T>C (p.Asp1609=)
c.1617T>C (p.Asp539=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177280825T>GCA362313913NSD1c.5010T>G (p.Asp1670Glu)
c.525T>G (p.Asp175Glu)
n.5466T>G
c.5574T>G (p.Asp1858Glu)
n.5280T>G
n.6030T>G
n.2802T>G
c.5883T>G (p.Asp1961Glu)
c.5076T>G (p.Asp1692Glu)
c.1377T>G (p.Asp459Glu)
c.5463T>G (p.Asp1821Glu)
c.4827T>G (p.Asp1609Glu)
c.1617T>G (p.Asp539Glu)
5g.177280825T=CA1603550673NSD1c.5010T= (p.Asp1670=)
c.525T= (p.Asp175=)
n.5466T=
c.5574T= (p.Asp1858=)
n.5280T=
n.6030T=
n.2802T=
c.5883T= (p.Asp1961=)
c.5076T= (p.Asp1692=)
c.1377T= (p.Asp459=)
c.5463T= (p.Asp1821=)
c.4827T= (p.Asp1609=)
c.1617T= (p.Asp539=)
5g.177280826A>CCA362313918NSD1c.5011A>C (p.Ile1671Leu)
c.526A>C (p.Ile176Leu)
n.5467A>C
c.5575A>C (p.Ile1859Leu)
n.5281A>C
n.6031A>C
n.2803A>C
c.5884A>C (p.Ile1962Leu)
c.5077A>C (p.Ile1693Leu)
c.1378A>C (p.Ile460Leu)
c.5464A>C (p.Ile1822Leu)
c.4828A>C (p.Ile1610Leu)
c.1618A>C (p.Ile540Leu)
5g.177280826A>GCA362313920NSD1c.5011A>G (p.Ile1671Val)
c.526A>G (p.Ile176Val)
n.5467A>G
c.5575A>G (p.Ile1859Val)
n.5281A>G
n.6031A>G
n.2803A>G
c.5884A>G (p.Ile1962Val)
c.5077A>G (p.Ile1693Val)
c.1378A>G (p.Ile460Val)
c.5464A>G (p.Ile1822Val)
c.4828A>G (p.Ile1610Val)
c.1618A>G (p.Ile540Val)
5g.177280826A>TCA362313922NSD1c.5011A>T (p.Ile1671Phe)
c.526A>T (p.Ile176Phe)
n.5467A>T
c.5575A>T (p.Ile1859Phe)
n.5281A>T
n.6031A>T
n.2803A>T
c.5884A>T (p.Ile1962Phe)
c.5077A>T (p.Ile1693Phe)
c.1378A>T (p.Ile460Phe)
c.5464A>T (p.Ile1822Phe)
c.4828A>T (p.Ile1610Phe)
c.1618A>T (p.Ile540Phe)
5g.177280827T>ACA362313925NSD1c.5012T>A (p.Ile1671Asn)
c.527T>A (p.Ile176Asn)
n.5468T>A
c.5576T>A (p.Ile1859Asn)
n.5282T>A
n.6032T>A
n.2804T>A
c.5885T>A (p.Ile1962Asn)
c.5078T>A (p.Ile1693Asn)
c.1379T>A (p.Ile460Asn)
c.5465T>A (p.Ile1822Asn)
c.4829T>A (p.Ile1610Asn)
c.1619T>A (p.Ile540Asn)
5g.177280827T>CCA294995NSD1c.5012T>C (p.Ile1671Thr)
c.527T>C (p.Ile176Thr)
n.5468T>C
c.5576T>C (p.Ile1859Thr)
n.5282T>C
n.6032T>C
n.2804T>C
c.5885T>C (p.Ile1962Thr)
c.5078T>C (p.Ile1693Thr)
c.1379T>C (p.Ile460Thr)
c.5465T>C (p.Ile1822Thr)
c.4829T>C (p.Ile1610Thr)
c.1619T>C (p.Ile540Thr)
 ClinVar dbSNP
5g.177280827T>GCA362313929NSD1c.5012T>G (p.Ile1671Ser)
c.527T>G (p.Ile176Ser)
n.5468T>G
c.5576T>G (p.Ile1859Ser)
n.5282T>G
n.6032T>G
n.2804T>G
c.5885T>G (p.Ile1962Ser)
c.5078T>G (p.Ile1693Ser)
c.1379T>G (p.Ile460Ser)
c.5465T>G (p.Ile1822Ser)
c.4829T>G (p.Ile1610Ser)
c.1619T>G (p.Ile540Ser)
5g.177280827T=CA1603550677NSD1c.5012T= (p.Ile1671=)
c.527T= (p.Ile176=)
n.5468T=
c.5576T= (p.Ile1859=)
n.5282T=
n.6032T=
n.2804T=
c.5885T= (p.Ile1962=)
c.5078T= (p.Ile1693=)
c.1379T= (p.Ile460=)
c.5465T= (p.Ile1822=)
c.4829T= (p.Ile1610=)
c.1619T= (p.Ile540=)
5g.177280828T>ACA447961537NSD1c.5013T>A (p.Ile1671=)
c.528T>A (p.Ile176=)
n.5469T>A
c.5577T>A (p.Ile1859=)
n.5283T>A
n.6033T>A
n.2805T>A
c.5886T>A (p.Ile1962=)
c.5079T>A (p.Ile1693=)
c.1380T>A (p.Ile460=)
c.5466T>A (p.Ile1822=)
c.4830T>A (p.Ile1610=)
c.1620T>A (p.Ile540=)
5g.177280828T>CCA447961538NSD1c.5013T>C (p.Ile1671=)
c.528T>C (p.Ile176=)
n.5469T>C
c.5577T>C (p.Ile1859=)
n.5283T>C
n.6033T>C
n.2805T>C
c.5886T>C (p.Ile1962=)
c.5079T>C (p.Ile1693=)
c.1380T>C (p.Ile460=)
c.5466T>C (p.Ile1822=)
c.4830T>C (p.Ile1610=)
c.1620T>C (p.Ile540=)
5g.177280828T>GCA362313932NSD1c.5013T>G (p.Ile1671Met)
c.528T>G (p.Ile176Met)
n.5469T>G
c.5577T>G (p.Ile1859Met)
n.5283T>G
n.6033T>G
n.2805T>G
c.5886T>G (p.Ile1962Met)
c.5079T>G (p.Ile1693Met)
c.1380T>G (p.Ile460Met)
c.5466T>G (p.Ile1822Met)
c.4830T>G (p.Ile1610Met)
c.1620T>G (p.Ile540Met)
5g.177280829A>CCA362313938NSD1c.5014A>C (p.Lys1672Gln)
c.529A>C (p.Lys177Gln)
n.5470A>C
c.5578A>C (p.Lys1860Gln)
n.5284A>C
n.6034A>C
n.2806A>C
c.5887A>C (p.Lys1963Gln)
c.5080A>C (p.Lys1694Gln)
c.1381A>C (p.Lys461Gln)
c.5467A>C (p.Lys1823Gln)
c.4831A>C (p.Lys1611Gln)
c.1621A>C (p.Lys541Gln)
5g.177280829A>GCA362313942NSD1c.5014A>G (p.Lys1672Glu)
c.529A>G (p.Lys177Glu)
n.5470A>G
c.5578A>G (p.Lys1860Glu)
n.5284A>G
n.6034A>G
n.2806A>G
c.5887A>G (p.Lys1963Glu)
c.5080A>G (p.Lys1694Glu)
c.1381A>G (p.Lys461Glu)
c.5467A>G (p.Lys1823Glu)
c.4831A>G (p.Lys1611Glu)
c.1621A>G (p.Lys541Glu)
5g.177280829A>TCA362313935NSD1c.5014A>T (p.Lys1672Ter)
c.529A>T (p.Lys177Ter)
n.5470A>T
c.5578A>T (p.Lys1860Ter)
n.5284A>T
n.6034A>T
n.2806A>T
c.5887A>T (p.Lys1963Ter)
c.5080A>T (p.Lys1694Ter)
c.1381A>T (p.Lys461Ter)
c.5467A>T (p.Lys1823Ter)
c.4831A>T (p.Lys1611Ter)
c.1621A>T (p.Lys541Ter)
5g.177280833delCA447961539NSD1c.5018del (p.Lys1673ArgfsTer5)
c.533del (p.Lys178ArgfsTer5)
n.5474del
c.5582del (p.Lys1861ArgfsTer5)
n.5288del
n.6038del
n.2810del
c.5891del (p.Lys1964ArgfsTer5)
c.5084del (p.Lys1695ArgfsTer5)
c.1385del (p.Lys462ArgfsTer5)
c.5471del (p.Lys1824ArgfsTer5)
c.4835del (p.Lys1612ArgfsTer5)
c.1625del (p.Lys542ArgfsTer5)
 COSMIC COSMIC
5g.177280830A>CCA362313950NSD1c.5015A>C (p.Lys1672Thr)
c.530A>C (p.Lys177Thr)
n.5471A>C
c.5579A>C (p.Lys1860Thr)
n.5285A>C
n.6035A>C
n.2807A>C
c.5888A>C (p.Lys1963Thr)
c.5081A>C (p.Lys1694Thr)
c.1382A>C (p.Lys461Thr)
c.5468A>C (p.Lys1823Thr)
c.4832A>C (p.Lys1611Thr)
c.1622A>C (p.Lys541Thr)
5g.177280830A>GCA362313946NSD1c.5015A>G (p.Lys1672Arg)
c.530A>G (p.Lys177Arg)
n.5471A>G
c.5579A>G (p.Lys1860Arg)
n.5285A>G
n.6035A>G
n.2807A>G
c.5888A>G (p.Lys1963Arg)
c.5081A>G (p.Lys1694Arg)
c.1382A>G (p.Lys461Arg)
c.5468A>G (p.Lys1823Arg)
c.4832A>G (p.Lys1611Arg)
c.1622A>G (p.Lys541Arg)
5g.177280830A>TCA362313953NSD1c.5015A>T (p.Lys1672Ile)
c.530A>T (p.Lys177Ile)
n.5471A>T
c.5579A>T (p.Lys1860Ile)
n.5285A>T
n.6035A>T
n.2807A>T
c.5888A>T (p.Lys1963Ile)
c.5081A>T (p.Lys1694Ile)
c.1382A>T (p.Lys461Ile)
c.5468A>T (p.Lys1823Ile)
c.4832A>T (p.Lys1611Ile)
c.1622A>T (p.Lys541Ile)
5g.177280831A>CCA362313956NSD1c.5016A>C (p.Lys1672Asn)
c.531A>C (p.Lys177Asn)
n.5472A>C
c.5580A>C (p.Lys1860Asn)
n.5286A>C
n.6036A>C
n.2808A>C
c.5889A>C (p.Lys1963Asn)
c.5082A>C (p.Lys1694Asn)
c.1383A>C (p.Lys461Asn)
c.5469A>C (p.Lys1823Asn)
c.4833A>C (p.Lys1611Asn)
c.1623A>C (p.Lys541Asn)
5g.177280831A>GCA447961540NSD1c.5016A>G (p.Lys1672=)
c.531A>G (p.Lys177=)
n.5472A>G
c.5580A>G (p.Lys1860=)
n.5286A>G
n.6036A>G
n.2808A>G
c.5889A>G (p.Lys1963=)
c.5082A>G (p.Lys1694=)
c.1383A>G (p.Lys461=)
c.5469A>G (p.Lys1823=)
c.4833A>G (p.Lys1611=)
c.1623A>G (p.Lys541=)
5g.177280831A>TCA362313961NSD1c.5016A>T (p.Lys1672Asn)
c.531A>T (p.Lys177Asn)
n.5472A>T
c.5580A>T (p.Lys1860Asn)
n.5286A>T
n.6036A>T
n.2808A>T
c.5889A>T (p.Lys1963Asn)
c.5082A>T (p.Lys1694Asn)
c.1383A>T (p.Lys461Asn)
c.5469A>T (p.Lys1823Asn)
c.4833A>T (p.Lys1611Asn)
c.1623A>T (p.Lys541Asn)
5g.177280832A>CCA362313965NSD1c.5017A>C (p.Lys1673Gln)
c.532A>C (p.Lys178Gln)
n.5473A>C
c.5581A>C (p.Lys1861Gln)
n.5287A>C
n.6037A>C
n.2809A>C
c.5890A>C (p.Lys1964Gln)
c.5083A>C (p.Lys1695Gln)
c.1384A>C (p.Lys462Gln)
c.5470A>C (p.Lys1824Gln)
c.4834A>C (p.Lys1612Gln)
c.1624A>C (p.Lys542Gln)
5g.177280832A>GCA362313967NSD1c.5017A>G (p.Lys1673Glu)
c.532A>G (p.Lys178Glu)
n.5473A>G
c.5581A>G (p.Lys1861Glu)
n.5287A>G
n.6037A>G
n.2809A>G
c.5890A>G (p.Lys1964Glu)
c.5083A>G (p.Lys1695Glu)
c.1384A>G (p.Lys462Glu)
c.5470A>G (p.Lys1824Glu)
c.4834A>G (p.Lys1612Glu)
c.1624A>G (p.Lys542Glu)
 ClinVar dbSNP
5g.177280832A>TCA362313977NSD1c.5017A>T (p.Lys1673Ter)
c.532A>T (p.Lys178Ter)
n.5473A>T
c.5581A>T (p.Lys1861Ter)
n.5287A>T
n.6037A>T
n.2809A>T
c.5890A>T (p.Lys1964Ter)
c.5083A>T (p.Lys1695Ter)
c.1384A>T (p.Lys462Ter)
c.5470A>T (p.Lys1824Ter)
c.4834A>T (p.Lys1612Ter)
c.1624A>T (p.Lys542Ter)
5g.177280832_177280833insTTCA2534231204NSD1c.5017_5018insTT (p.Lys1673IlefsTer6)
c.532_533insTT (p.Lys178IlefsTer6)
n.5473_5474insTT
c.5581_5582insTT (p.Lys1861IlefsTer6)
n.5287_5288insTT
n.6037_6038insTT
n.2809_2810insTT
c.5890_5891insTT (p.Lys1964IlefsTer6)
c.5083_5084insTT (p.Lys1695IlefsTer6)
c.1384_1385insTT (p.Lys462IlefsTer6)
c.5470_5471insTT (p.Lys1824IlefsTer6)
c.4834_4835insTT (p.Lys1612IlefsTer6)
c.1624_1625insTT (p.Lys542IlefsTer6)
5g.177280833A>CCA362313980NSD1c.5018A>C (p.Lys1673Thr)
c.533A>C (p.Lys178Thr)
n.5474A>C
c.5582A>C (p.Lys1861Thr)
n.5288A>C
n.6038A>C
n.2810A>C
c.5891A>C (p.Lys1964Thr)
c.5084A>C (p.Lys1695Thr)
c.1385A>C (p.Lys462Thr)
c.5471A>C (p.Lys1824Thr)
c.4835A>C (p.Lys1612Thr)
c.1625A>C (p.Lys542Thr)
5g.177280833A>GCA362313986NSD1c.5018A>G (p.Lys1673Arg)
c.533A>G (p.Lys178Arg)
n.5474A>G
c.5582A>G (p.Lys1861Arg)
n.5288A>G
n.6038A>G
n.2810A>G
c.5891A>G (p.Lys1964Arg)
c.5084A>G (p.Lys1695Arg)
c.1385A>G (p.Lys462Arg)
c.5471A>G (p.Lys1824Arg)
c.4835A>G (p.Lys1612Arg)
c.1625A>G (p.Lys542Arg)
5g.177280833A>TCA362313988NSD1c.5018A>T (p.Lys1673Met)
c.533A>T (p.Lys178Met)
n.5474A>T
c.5582A>T (p.Lys1861Met)
n.5288A>T
n.6038A>T
n.2810A>T
c.5891A>T (p.Lys1964Met)
c.5084A>T (p.Lys1695Met)
c.1385A>T (p.Lys462Met)
c.5471A>T (p.Lys1824Met)
c.4835A>T (p.Lys1612Met)
c.1625A>T (p.Lys542Met)
5g.177280833_177280834delinsAGCA1603550682NSD1c.5018_5019delinsAG (p.Lys1673=)
c.533_534delinsAG (p.Lys178=)
n.5474_5475delinsAG
c.5582_5583delinsAG (p.Lys1861=)
n.5288_5289delinsAG
n.6038_6039delinsAG
n.2810_2811delinsAG
c.5891_5892delinsAG (p.Lys1964=)
c.5084_5085delinsAG (p.Lys1695=)
c.1385_1386delinsAG (p.Lys462=)
c.5471_5472delinsAG (p.Lys1824=)
c.4835_4836delinsAG (p.Lys1612=)
c.1625_1626delinsAG (p.Lys542=)
5g.177280834G>ACA447961541NSD1c.5019G>A (p.Lys1673=)
c.534G>A (p.Lys178=)
n.5475G>A
c.5583G>A (p.Lys1861=)
n.5289G>A
n.6039G>A
n.2811G>A
c.5892G>A (p.Lys1964=)
c.5085G>A (p.Lys1695=)
c.1386G>A (p.Lys462=)
c.5472G>A (p.Lys1824=)
c.4836G>A (p.Lys1612=)
c.1626G>A (p.Lys542=)
5g.177280834G>CCA362313990NSD1c.5019G>C (p.Lys1673Asn)
c.534G>C (p.Lys178Asn)
n.5475G>C
c.5583G>C (p.Lys1861Asn)
n.5289G>C
n.6039G>C
n.2811G>C
c.5892G>C (p.Lys1964Asn)
c.5085G>C (p.Lys1695Asn)
c.1386G>C (p.Lys462Asn)
c.5472G>C (p.Lys1824Asn)
c.4836G>C (p.Lys1612Asn)
c.1626G>C (p.Lys542Asn)
5g.177280834G>TCA362313991NSD1c.5019G>T (p.Lys1673Asn)
c.534G>T (p.Lys178Asn)
n.5475G>T
c.5583G>T (p.Lys1861Asn)
n.5289G>T
n.6039G>T
n.2811G>T
c.5892G>T (p.Lys1964Asn)
c.5085G>T (p.Lys1695Asn)
c.1386G>T (p.Lys462Asn)
c.5472G>T (p.Lys1824Asn)
c.4836G>T (p.Lys1612Asn)
c.1626G>T (p.Lys542Asn)
 COSMIC COSMIC
5g.177280835delCA16618183NSD1c.5019+1del
c.534+1del
n.5475+1del
c.5583+1del
n.5289+1del
n.6039+1del
n.2812del
c.5892+1del
c.5085+1del
c.1386+1del
c.5472+1del
c.4836+1del
c.1626+1del
 ClinVar dbSNP
5g.177280835G>ACA362313995NSD1c.5019+1G>A (n.5019+1G>A)
c.534+1G>A (n.534+1G>A)
n.5475+1G>A
c.5583+1G>A (n.5583+1G>A)
n.5289+1G>A
n.6039+1G>A
n.2812G>A
c.5892+1G>A (n.5892+1G>A)
c.5085+1G>A (n.5085+1G>A)
c.1386+1G>A (n.1386+1G>A)
c.5472+1G>A (n.5472+1G>A)
c.4836+1G>A (n.4836+1G>A)
c.1626+1G>A (n.1626+1G>A)
 ClinVar dbSNP
5g.177280835G>CCA362313997NSD1c.5019+1G>C (n.5019+1G>C)
c.534+1G>C (n.534+1G>C)
n.5475+1G>C
c.5583+1G>C (n.5583+1G>C)
n.5289+1G>C
n.6039+1G>C
n.2812G>C
c.5892+1G>C (n.5892+1G>C)
c.5085+1G>C (n.5085+1G>C)
c.1386+1G>C (n.1386+1G>C)
c.5472+1G>C (n.5472+1G>C)
c.4836+1G>C (n.4836+1G>C)
c.1626+1G>C (n.1626+1G>C)
5g.177280835G=CA1603550694NSD1c.5019+1G= (n.5019+1G=)
c.534+1G= (n.534+1G=)
n.5475+1G=
c.5583+1G= (n.5583+1G=)
n.5289+1G=
n.6039+1G=
n.2812G=
c.5892+1G= (n.5892+1G=)
c.5085+1G= (n.5085+1G=)
c.1386+1G= (n.1386+1G=)
c.5472+1G= (n.5472+1G=)
c.4836+1G= (n.4836+1G=)
c.1626+1G= (n.1626+1G=)
5g.177280835G>TCA10588401NSD1c.5019+1G>T (n.5019+1G>T)
c.534+1G>T (n.534+1G>T)
n.5475+1G>T
c.5583+1G>T (n.5583+1G>T)
n.5289+1G>T
n.6039+1G>T
n.2812G>T
c.5892+1G>T (n.5892+1G>T)
c.5085+1G>T (n.5085+1G>T)
c.1386+1G>T (n.1386+1G>T)
c.5472+1G>T (n.5472+1G>T)
c.4836+1G>T (n.4836+1G>T)
c.1626+1G>T (n.1626+1G>T)
 ClinVar dbSNP COSMIC COSMIC
5g.177280836T>ACA362314006NSD1c.5019+2T>A (n.5019+2T>A)
c.534+2T>A (n.534+2T>A)
n.5475+2T>A
c.5583+2T>A (n.5583+2T>A)
n.5289+2T>A
n.6039+2T>A
n.2813T>A
c.5892+2T>A (n.5892+2T>A)
c.5085+2T>A (n.5085+2T>A)
c.1386+2T>A (n.1386+2T>A)
c.5472+2T>A (n.5472+2T>A)
c.4836+2T>A (n.4836+2T>A)
c.1626+2T>A (n.1626+2T>A)
5g.177280836T>CCA362314001NSD1c.5019+2T>C (n.5019+2T>C)
c.534+2T>C (n.534+2T>C)
n.5475+2T>C
c.5583+2T>C (n.5583+2T>C)
n.5289+2T>C
n.6039+2T>C
n.2813T>C
c.5892+2T>C (n.5892+2T>C)
c.5085+2T>C (n.5085+2T>C)
c.1386+2T>C (n.1386+2T>C)
c.5472+2T>C (n.5472+2T>C)
c.4836+2T>C (n.4836+2T>C)
c.1626+2T>C (n.1626+2T>C)
5g.177280836T>GCA362314004NSD1c.5019+2T>G (n.5019+2T>G)
c.534+2T>G (n.534+2T>G)
n.5475+2T>G
c.5583+2T>G (n.5583+2T>G)
n.5289+2T>G
n.6039+2T>G
n.2813T>G
c.5892+2T>G (n.5892+2T>G)
c.5085+2T>G (n.5085+2T>G)
c.1386+2T>G (n.1386+2T>G)
c.5472+2T>G (n.5472+2T>G)
c.4836+2T>G (n.4836+2T>G)
c.1626+2T>G (n.1626+2T>G)
5g.177280840A=CA1603550701NSD1c.5019+6A= (n.5019+6A=)
c.534+6A= (n.534+6A=)
n.5475+6A=
c.5583+6A= (n.5583+6A=)
n.5289+6A=
n.6039+6A=
n.2817A=
c.5892+6A= (n.5892+6A=)
c.5085+6A= (n.5085+6A=)
c.1386+6A= (n.1386+6A=)
c.5472+6A= (n.5472+6A=)
c.4836+6A= (n.4836+6A=)
c.1626+6A= (n.1626+6A=)
5g.177280840A>GCA564898971NSD1c.5019+6A>G (n.5019+6A>G)
c.534+6A>G (n.534+6A>G)
n.5475+6A>G
c.5583+6A>G (n.5583+6A>G)
n.5289+6A>G
n.6039+6A>G
n.2817A>G
c.5892+6A>G (n.5892+6A>G)
c.5085+6A>G (n.5085+6A>G)
c.1386+6A>G (n.1386+6A>G)
c.5472+6A>G (n.5472+6A>G)
c.4836+6A>G (n.4836+6A>G)
c.1626+6A>G (n.1626+6A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.177280841A=CA1603550705NSD1c.5019+7A= (n.5019+7A=)
c.534+7A= (n.534+7A=)
n.5475+7A=
c.5583+7A= (n.5583+7A=)
n.5289+7A=
n.6039+7A=
n.2818A=
c.5892+7A= (n.5892+7A=)
c.5085+7A= (n.5085+7A=)
c.1386+7A= (n.1386+7A=)
c.5472+7A= (n.5472+7A=)
c.4836+7A= (n.4836+7A=)
c.1626+7A= (n.1626+7A=)
5g.177280841A>GCA3577900NSD1c.5019+7A>G (n.5019+7A>G)
c.534+7A>G (n.534+7A>G)
n.5475+7A>G
c.5583+7A>G (n.5583+7A>G)
n.5289+7A>G
n.6039+7A>G
n.2818A>G
c.5892+7A>G (n.5892+7A>G)
c.5085+7A>G (n.5085+7A>G)
c.1386+7A>G (n.1386+7A>G)
c.5472+7A>G (n.5472+7A>G)
c.4836+7A>G (n.4836+7A>G)
c.1626+7A>G (n.1626+7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.177280841A>TCA132847407NSD1c.5019+7A>T (n.5019+7A>T)
c.534+7A>T (n.534+7A>T)
n.5475+7A>T
c.5583+7A>T (n.5583+7A>T)
n.5289+7A>T
n.6039+7A>T
n.2818A>T
c.5892+7A>T (n.5892+7A>T)
c.5085+7A>T (n.5085+7A>T)
c.1386+7A>T (n.1386+7A>T)
c.5472+7A>T (n.5472+7A>T)
c.4836+7A>T (n.4836+7A>T)
c.1626+7A>T (n.1626+7A>T)
 ClinVar dbSNP gnomAD v4
5g.177280844A>GCA2676691180NSD1c.5019+10A>G (n.5019+10A>G)
c.534+10A>G (n.534+10A>G)
n.5475+10A>G
c.5583+10A>G (n.5583+10A>G)
n.5289+10A>G
n.6039+10A>G
n.2821A>G
c.5892+10A>G (n.5892+10A>G)
c.5085+10A>G (n.5085+10A>G)
c.1386+10A>G (n.1386+10A>G)
c.5472+10A>G (n.5472+10A>G)
c.4836+10A>G (n.4836+10A>G)
c.1626+10A>G (n.1626+10A>G)
 gnomAD v4
5g.177280845G>ACA1603550710NSD1c.5019+11G>A (n.5019+11G>A)
c.534+11G>A (n.534+11G>A)
n.5475+11G>A
c.5583+11G>A (n.5583+11G>A)
n.5289+11G>A
n.6039+11G>A
n.2822G>A
c.5892+11G>A (n.5892+11G>A)
c.5085+11G>A (n.5085+11G>A)
c.1386+11G>A (n.1386+11G>A)
c.5472+11G>A (n.5472+11G>A)
c.4836+11G>A (n.4836+11G>A)
c.1626+11G>A (n.1626+11G>A)
 dbSNP gnomAD v4
5g.177280845G=CA1603550708NSD1c.5019+11G= (n.5019+11G=)
c.534+11G= (n.534+11G=)
n.5475+11G=
c.5583+11G= (n.5583+11G=)
n.5289+11G=
n.6039+11G=
n.2822G=
c.5892+11G= (n.5892+11G=)
c.5085+11G= (n.5085+11G=)
c.1386+11G= (n.1386+11G=)
c.5472+11G= (n.5472+11G=)
c.4836+11G= (n.4836+11G=)
c.1626+11G= (n.1626+11G=)
5g.177280845G>TCA2676691181NSD1c.5019+11G>T (n.5019+11G>T)
c.534+11G>T (n.534+11G>T)
n.5475+11G>T
c.5583+11G>T (n.5583+11G>T)
n.5289+11G>T
n.6039+11G>T
n.2822G>T
c.5892+11G>T (n.5892+11G>T)
c.5085+11G>T (n.5085+11G>T)
c.1386+11G>T (n.1386+11G>T)
c.5472+11G>T (n.5472+11G>T)
c.4836+11G>T (n.4836+11G>T)
c.1626+11G>T (n.1626+11G>T)
 gnomAD v4
5g.177280846C>TCA2711004393NSD1c.5019+12C>T (n.5019+12C>T)
c.534+12C>T (n.534+12C>T)
n.5475+12C>T
c.5583+12C>T (n.5583+12C>T)
n.5289+12C>T
n.6039+12C>T
n.2823C>T
c.5892+12C>T (n.5892+12C>T)
c.5085+12C>T (n.5085+12C>T)
c.1386+12C>T (n.1386+12C>T)
c.5472+12C>T (n.5472+12C>T)
c.4836+12C>T (n.4836+12C>T)
c.1626+12C>T (n.1626+12C>T)
 dbSNP
5g.177280846_177280847insACA2676691182NSD1c.5019+12_5019+13insA (n.5019+12_5019+13insA)
c.534+12_534+13insA (n.534+12_534+13insA)
n.5475+12_5475+13insA
c.5583+12_5583+13insA (n.5583+12_5583+13insA)
n.5289+12_5289+13insA
n.6039+12_6039+13insA
n.2823_2824insA
c.5892+12_5892+13insA (n.5892+12_5892+13insA)
c.5085+12_5085+13insA (n.5085+12_5085+13insA)
c.1386+12_1386+13insA (n.1386+12_1386+13insA)
c.5472+12_5472+13insA (n.5472+12_5472+13insA)
c.4836+12_4836+13insA (n.4836+12_4836+13insA)
c.1626+12_1626+13insA (n.1626+12_1626+13insA)
 gnomAD v4
5g.177280847_177280848delinsTACA1603550713NSD1c.5019+13_5019+14delinsTA (n.5019+13_5019+14delinsTA)
c.534+13_534+14delinsTA (n.534+13_534+14delinsTA)
n.5475+13_5475+14delinsTA
c.5583+13_5583+14delinsTA (n.5583+13_5583+14delinsTA)
n.5289+13_5289+14delinsTA
n.6039+13_6039+14delinsTA
n.2824_2825delinsTA
c.5892+13_5892+14delinsTA (n.5892+13_5892+14delinsTA)
c.5085+13_5085+14delinsTA (n.5085+13_5085+14delinsTA)
c.1386+13_1386+14delinsTA (n.1386+13_1386+14delinsTA)
c.5472+13_5472+14delinsTA (n.5472+13_5472+14delinsTA)
c.4836+13_4836+14delinsTA (n.4836+13_4836+14delinsTA)
c.1626+13_1626+14delinsTA (n.1626+13_1626+14delinsTA)
5g.177280848A>GCA2676691183NSD1c.5019+14A>G (n.5019+14A>G)
c.534+14A>G (n.534+14A>G)
n.5475+14A>G
c.5583+14A>G (n.5583+14A>G)
n.5289+14A>G
n.6039+14A>G
n.2825A>G
c.5892+14A>G (n.5892+14A>G)
c.5085+14A>G (n.5085+14A>G)
c.1386+14A>G (n.1386+14A>G)
c.5472+14A>G (n.5472+14A>G)
c.4836+14A>G (n.4836+14A>G)
c.1626+14A>G (n.1626+14A>G)
 gnomAD v4
5g.177280850delCA1603550715NSD1c.5019+16del (n.5019+16del)
c.534+16del (n.534+16del)
n.5475+16del
c.5583+16del (n.5583+16del)
n.5289+16del
n.6039+16del
n.2827del
c.5892+16del (n.5892+16del)
c.5085+16del (n.5085+16del)
c.1386+16del (n.1386+16del)
c.5472+16del (n.5472+16del)
c.4836+16del (n.4836+16del)
c.1626+16del (n.1626+16del)
 dbSNP
5g.177280850A>TCA2578495022NSD1c.5019+16A>T (n.5019+16A>T)
c.534+16A>T (n.534+16A>T)
n.5475+16A>T
c.5583+16A>T (n.5583+16A>T)
n.5289+16A>T
n.6039+16A>T
n.2827A>T
c.5892+16A>T (n.5892+16A>T)
c.5085+16A>T (n.5085+16A>T)
c.1386+16A>T (n.1386+16A>T)
c.5472+16A>T (n.5472+16A>T)
c.4836+16A>T (n.4836+16A>T)
c.1626+16A>T (n.1626+16A>T)
 gnomAD v4
5g.177280852_177280859delCA2676691184NSD1c.5019+18_5019+25del (n.5019+18_5019+25del)
c.534+18_534+25del (n.534+18_534+25del)
n.5475+18_5475+25del
c.5583+18_5583+25del (n.5583+18_5583+25del)
n.5289+18_5289+25del
n.6039+18_6039+25del
n.2829_2836del
c.5892+18_5892+25del (n.5892+18_5892+25del)
c.5085+18_5085+25del (n.5085+18_5085+25del)
c.1386+18_1386+25del (n.1386+18_1386+25del)
c.5472+18_5472+25del (n.5472+18_5472+25del)
c.4836+18_4836+25del (n.4836+18_4836+25del)
c.1626+18_1626+25del (n.1626+18_1626+25del)
 gnomAD v4
5g.177280852T>GCA1603550719NSD1c.5019+18T>G (n.5019+18T>G)
c.534+18T>G (n.534+18T>G)
n.5475+18T>G
c.5583+18T>G (n.5583+18T>G)
n.5289+18T>G
n.6039+18T>G
n.2829T>G
c.5892+18T>G (n.5892+18T>G)
c.5085+18T>G (n.5085+18T>G)
c.1386+18T>G (n.1386+18T>G)
c.5472+18T>G (n.5472+18T>G)
c.4836+18T>G (n.4836+18T>G)
c.1626+18T>G (n.1626+18T>G)
 dbSNP
5g.177280852T=CA1603550717NSD1c.5019+18T= (n.5019+18T=)
c.534+18T= (n.534+18T=)
n.5475+18T=
c.5583+18T= (n.5583+18T=)
n.5289+18T=
n.6039+18T=
n.2829T=
c.5892+18T= (n.5892+18T=)
c.5085+18T= (n.5085+18T=)
c.1386+18T= (n.1386+18T=)
c.5472+18T= (n.5472+18T=)
c.4836+18T= (n.4836+18T=)
c.1626+18T= (n.1626+18T=)
5g.177280853A=CA1603550723NSD1c.5019+19A= (n.5019+19A=)
c.534+19A= (n.534+19A=)
n.5475+19A=
c.5583+19A= (n.5583+19A=)
n.5289+19A=
n.6039+19A=
n.2830A=
c.5892+19A= (n.5892+19A=)
c.5085+19A= (n.5085+19A=)
c.1386+19A= (n.1386+19A=)
c.5472+19A= (n.5472+19A=)
c.4836+19A= (n.4836+19A=)
c.1626+19A= (n.1626+19A=)
5g.177280853A>GCA3577901NSD1c.5019+19A>G (n.5019+19A>G)
c.534+19A>G (n.534+19A>G)
n.5475+19A>G
c.5583+19A>G (n.5583+19A>G)
n.5289+19A>G
n.6039+19A>G
n.2830A>G
c.5892+19A>G (n.5892+19A>G)
c.5085+19A>G (n.5085+19A>G)
c.1386+19A>G (n.1386+19A>G)
c.5472+19A>G (n.5472+19A>G)
c.4836+19A>G (n.4836+19A>G)
c.1626+19A>G (n.1626+19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched