Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177280766C>A | CA362313543 | NSD1 | c.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 |
5 | g.177280766C>G | CA362313546 | NSD1 | c.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 |
5 | g.177280766C>T | CA362313550 | NSD1 | c.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) | |
5 | g.177280766_177280770del | CA2499217786 | NSD1 | c.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 |
5 | g.177280767C>A | CA362313560 | NSD1 | c.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) | |
5 | g.177280767C>G | CA362313554 | NSD1 | c.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 |
5 | g.177280767C>T | CA362313557 | NSD1 | c.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) | |
5 | g.177280768del | CA2695205718 | NSD1 | c.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) | |
5 | g.177280768A>C | CA447961440 | NSD1 | c.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=) | |
5 | g.177280768A>G | CA447961441 | NSD1 | c.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=) | |
5 | g.177280768A>T | CA447961442 | NSD1 | c.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=) | |
5 | g.177280769G>A | CA362313564 | NSD1 | c.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 |
5 | g.177280769G>C | CA362313566 | NSD1 | c.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) | |
5 | g.177280769G>T | CA362313567 | NSD1 | c.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) | |
5 | g.177280770A>C | CA362313570 | NSD1 | c.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) | |
5 | g.177280770A>G | CA362313573 | NSD1 | c.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) | |
5 | g.177280770A>T | CA362313576 | NSD1 | c.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) | |
5 | g.177280771G>A | CA447961444 | NSD1 | c.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 |
5 | g.177280771G>C | CA362313579 | NSD1 | c.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) | |
5 | g.177280771G>T | CA362313581 | NSD1 | c.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) | |
5 | g.177280772G>A | CA362313584 | NSD1 | c.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) | |
5 | g.177280772G>C | CA362313586 | NSD1 | c.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) | |
5 | g.177280772G>T | CA362313587 | NSD1 | c.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) | |
5 | g.177280773T>A | CA362313596 | NSD1 | c.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) | |
5 | g.177280773T>C | CA362313594 | NSD1 | c.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) | |
5 | g.177280773T>G | CA362313592 | NSD1 | c.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) | |
5 | g.177280774T>A | CA447961449 | NSD1 | c.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=) | |
5 | g.177280774T>C | CA3577895 | NSD1 | c.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 |
5 | g.177280774T>G | CA447961450 | NSD1 | c.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=) | |
5 | g.177280774T= | CA1603550599 | NSD1 | c.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=) | |
5 | g.177280775G>A | CA362313606 | NSD1 | c.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) | |
5 | g.177280775G>C | CA362313601 | NSD1 | c.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) | |
5 | g.177280775G>T | CA362313604 | NSD1 | c.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) | |
5 | g.177280776A>C | CA362313609 | NSD1 | c.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) | |
5 | g.177280776A>G | CA362313612 | NSD1 | c.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) | |
5 | g.177280776A>T | CA362313614 | NSD1 | c.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) | |
5 | g.177280777A>C | CA362313615 | NSD1 | c.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) | |
5 | g.177280777A>G | CA447961454 | NSD1 | c.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=) | |
5 | g.177280777A>T | CA362313619 | NSD1 | c.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) | |
5 | g.177280778A>C | CA362313622 | NSD1 | c.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) | |
5 | g.177280778A>G | CA362313624 | NSD1 | c.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 |
5 | g.177280778A>T | CA362313627 | NSD1 | c.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) | |
5 | g.177280779T>A | CA362313629 | NSD1 | c.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) | |
5 | g.177280779T>C | CA362313630 | NSD1 | c.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 |
5 | g.177280779T>G | CA362313632 | NSD1 | c.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) | |
5 | g.177280780T>A | CA447961465 | NSD1 | c.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=) | |
5 | g.177280780T>C | CA447961464 | NSD1 | c.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=) | |
5 | g.177280780T>G | CA362313636 | NSD1 | c.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) | |
5 | g.177280781T>A | CA362313645 | NSD1 | c.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) | |
5 | g.177280781T>C | CA362313642 | NSD1 | c.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) | |
5 | g.177280781T>G | CA362313640 | NSD1 | c.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 |
5 | g.177280782T>A | CA362313648 | NSD1 | c.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) | |
5 | g.177280782T>C | CA362313650 | NSD1 | c.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) | |
5 | g.177280782T>G | CA362313652 | NSD1 | c.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) | |
5 | g.177280783_177280790dup | CA2695205719 | NSD1 | c.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) | |
5 | g.177280783C>A | CA362313656 | NSD1 | c.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 |
5 | g.177280783C>G | CA362313658 | NSD1 | c.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 |
5 | g.177280783C>T | CA447961474 | NSD1 | c.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 |
5 | g.177280784C>A | CA362313662 | NSD1 | c.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 |
5 | g.177280784C= | CA1603550604 | NSD1 | c.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=) | |
5 | g.177280784C>G | CA362313664 | NSD1 | c.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) | |
5 | g.177280784C>T | CA10602919 | NSD1 | c.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 |
5 | g.177280785G>A | CA3577896 | NSD1 | c.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 |
5 | g.177280785G>C | CA362313669 | NSD1 | c.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) | |
5 | g.177280785G= | CA1603550612 | NSD1 | c.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=) | |
5 | g.177280785G>T | CA362313673 | NSD1 | c.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) | |
5 | g.177280786C>A | CA447961477 | NSD1 | c.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=) | |
5 | g.177280786C= | CA1603550616 | NSD1 | c.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=) | |
5 | g.177280786C>G | CA447961479 | NSD1 | c.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=) | |
5 | g.177280786C>T | CA447961478 | NSD1 | c.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 |
5 | g.177280787A>C | CA362313676 | NSD1 | c.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) | |
5 | g.177280787A>G | CA362313679 | NSD1 | c.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) | |
5 | g.177280787A>T | CA362313681 | NSD1 | c.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) | |
5 | g.177280788C>A | CA362313687 | NSD1 | c.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) | |
5 | g.177280788C>G | CA362313690 | NSD1 | c.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) | |
5 | g.177280788C>T | CA362313684 | NSD1 | c.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) | |
5 | g.177280789A= | CA1603550621 | NSD1 | c.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=) | |
5 | g.177280789A>C | CA447961483 | NSD1 | c.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=) | |
5 | g.177280789A>G | CA447961484 | NSD1 | c.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 |
5 | g.177280789A>T | CA447961485 | NSD1 | c.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=) | |
5 | g.177280790T>A | CA362313694 | NSD1 | c.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) | |
5 | g.177280790T>C | CA447961486 | NSD1 | c.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=) | |
5 | g.177280790T>G | CA362313696 | NSD1 | c.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 |
5 | g.177280790T= | CA1603550624 | NSD1 | c.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=) | |
5 | g.177280791T>A | CA362313700 | NSD1 | c.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) | |
5 | g.177280791T>C | CA362313703 | NSD1 | c.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 |
5 | g.177280791T>G | CA362313706 | NSD1 | c.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 |
5 | g.177280791T= | CA1603550629 | NSD1 | c.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=) | |
5 | g.177280792A= | CA1603550633 | NSD1 | c.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=) | |
5 | g.177280792A>C | CA362313708 | NSD1 | c.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) | |
5 | g.177280792A>G | CA447961490 | NSD1 | c.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 |
5 | g.177280792A>T | CA362313712 | NSD1 | c.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) | |
5 | g.177280793C>A | CA362313715 | NSD1 | c.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) | |
5 | g.177280793C= | CA1603550638 | NSD1 | c.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=) | |
5 | g.177280793C>G | CA362313716 | NSD1 | c.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) | |
5 | g.177280793C>T | CA362313720 | NSD1 | c.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 |
5 | g.177280794A>C | CA362313723 | NSD1 | c.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) | |
5 | g.177280794A>G | CA362313725 | NSD1 | c.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) | |
5 | g.177280794A>T | CA362313727 | NSD1 | c.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) | |
5 | g.177280795G>A | CA3577897 | NSD1 | c.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 |
5 | g.177280795G>C | CA362313730 | NSD1 | c.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) | |
5 | g.177280795G= | CA1603550640 | NSD1 | c.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=) | |
5 | g.177280795G>T | CA362313732 | NSD1 | c.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) | |
5 | g.177280796C>A | CA447961495 | NSD1 | c.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 |
5 | g.177280796C= | CA1603550645 | NSD1 | c.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=) | |
5 | g.177280796C>G | CA362313737 | NSD1 | c.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 |
5 | g.177280796C>T | CA10602921 | NSD1 | c.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 |
5 | g.177280797G>A | CA362313739 | NSD1 | c.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 |
5 | g.177280797G>C | CA362313741 | NSD1 | c.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) | |
5 | g.177280797G>T | CA362313744 | NSD1 | c.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) | |
5 | g.177280798G>A | CA447961498 | NSD1 | c.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=) | |
5 | g.177280798G>C | CA447961499 | NSD1 | c.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=) | |
5 | g.177280798G>T | CA447961500 | NSD1 | c.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 |
5 | g.177280799G>A | CA362313747 | NSD1 | c.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) | |
5 | g.177280799G>C | CA362313750 | NSD1 | c.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) | |
5 | g.177280799G>T | CA362313752 | NSD1 | c.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) | |
5 | g.177280800G>A | CA362313756 | NSD1 | c.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 |
5 | g.177280800G>C | CA362313759 | NSD1 | c.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 |
5 | g.177280800G>T | CA362313762 | NSD1 | c.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 |
5 | g.177280801T>A | CA447961501 | NSD1 | c.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=) | |
5 | g.177280801T>C | CA447961502 | NSD1 | c.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 |
5 | g.177280801T>G | CA447961504 | NSD1 | c.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=) | |
5 | g.177280801T= | CA1603550649 | NSD1 | c.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=) | |
5 | g.177280802T>A | CA362313766 | NSD1 | c.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) | |
5 | g.177280802T>C | CA362313772 | NSD1 | c.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) | |
5 | g.177280802T>G | CA362313769 | NSD1 | c.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) | |
5 | g.177280803G>A | CA362313774 | NSD1 | c.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) | |
5 | g.177280803G>C | CA362313775 | NSD1 | c.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) | |
5 | g.177280803G>T | CA362313778 | NSD1 | c.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) | |
5 | g.177280804G>A | CA362313781 | NSD1 | c.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 |
5 | g.177280804G>C | CA294992 | NSD1 | c.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 |
5 | g.177280804G= | CA1603550652 | NSD1 | c.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=) | |
5 | g.177280804G>T | CA362313786 | NSD1 | c.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) | |
5 | g.177280805G>A | CA362313792 | NSD1 | c.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) | |
5 | g.177280805G>C | CA362313788 | NSD1 | c.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) | |
5 | g.177280805G>T | CA362313790 | NSD1 | c.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) | |
5 | g.177280806G>A | CA362313796 | NSD1 | c.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 |
5 | g.177280806G>C | CA362313798 | NSD1 | c.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) | |
5 | g.177280806G>T | CA362313799 | NSD1 | c.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 |
5 | g.177280807_177280812del | CA2573332866 | NSD1 | c.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) | |
5 | g.177280807T>A | CA447961508 | NSD1 | c.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 |
5 | g.177280807T>C | CA447961509 | NSD1 | c.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=) | |
5 | g.177280807T>G | CA447961510 | NSD1 | c.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=) | |
5 | g.177280808C>A | CA362313803 | NSD1 | c.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) | |
5 | g.177280808C>G | CA362313806 | NSD1 | c.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 |
5 | g.177280808C>T | CA447961512 | NSD1 | c.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=) | |
5 | g.177280809T>A | CA362313815 | NSD1 | c.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) | |
5 | g.177280809T>C | CA362313809 | NSD1 | c.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) | |
5 | g.177280809T>G | CA362313811 | NSD1 | c.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) | |
5 | g.177280810A= | CA1603550658 | NSD1 | c.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=) | |
5 | g.177280810A>C | CA447961513 | NSD1 | c.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=) | |
5 | g.177280810A>G | CA3577898 | NSD1 | c.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 |
5 | g.177280810A>T | CA447961514 | NSD1 | c.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=) | |
5 | g.177280811C>A | CA447961516 | NSD1 | c.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=) | |
5 | g.177280811C= | CA1603550661 | NSD1 | c.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=) | |
5 | g.177280811C>G | CA362313821 | NSD1 | c.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) | |
5 | g.177280811C>T | CA172840 | NSD1 | c.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 |
5 | g.177280812G>A | CA3577899 | NSD1 | c.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 |
5 | g.177280812G>C | CA362313827 | NSD1 | c.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) | |
5 | g.177280812G= | CA1603550665 | NSD1 | c.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=) | |
5 | g.177280812G>T | CA362313830 | NSD1 | c.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) | |
5 | g.177280813G>A | CA447961517 | NSD1 | c.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 |
5 | g.177280813G>C | CA447961518 | NSD1 | c.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=) | |
5 | g.177280813G>T | CA447961520 | NSD1 | c.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=) | |
5 | g.177280814A>C | CA362313834 | NSD1 | c.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) | |
5 | g.177280814A>G | CA362313836 | NSD1 | c.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) | |
5 | g.177280814A>T | CA362313838 | NSD1 | c.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) | |
5 | g.177280815C>A | CA362313841 | NSD1 | c.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) | |
5 | g.177280815C>G | CA362313851 | NSD1 | c.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) | |
5 | g.177280815C>T | CA362313854 | NSD1 | c.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) | |
5 | g.177280816A>C | CA447961525 | NSD1 | c.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 |
5 | g.177280816A>G | CA447961523 | NSD1 | c.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=) | |
5 | g.177280816A>T | CA447961522 | NSD1 | c.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=) | |
5 | g.177280820del | CA2711004381 | NSD1 | c.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 |
5 | g.177280817A>C | CA362313858 | NSD1 | c.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) | |
5 | g.177280817A>G | CA362313860 | NSD1 | c.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 |
5 | g.177280817A>T | CA362313859 | NSD1 | c.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) | |
5 | g.177280818A>C | CA362313865 | NSD1 | c.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) | |
5 | g.177280818A>G | CA362313866 | NSD1 | c.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) | |
5 | g.177280818A>T | CA362313868 | NSD1 | c.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) | |
5 | g.177280819A= | CA1603550668 | NSD1 | c.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=) | |
5 | g.177280819A>C | CA362313869 | NSD1 | c.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) | |
5 | g.177280819A>G | CA447961526 | NSD1 | c.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 |
5 | g.177280819A>T | CA362313872 | NSD1 | c.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) | |
5 | g.177280820A>C | CA362313876 | NSD1 | c.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) | |
5 | g.177280820A>G | CA362313878 | NSD1 | c.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 |
5 | g.177280820A>T | CA362313880 | NSD1 | c.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) | |
5 | g.177280821C>A | CA362313883 | NSD1 | c.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) | |
5 | g.177280821C>G | CA362313886 | NSD1 | c.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 |
5 | g.177280821C>T | CA362313888 | NSD1 | c.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) | |
5 | g.177280822A>C | CA447961530 | NSD1 | c.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=) | |
5 | g.177280822A>G | CA447961531 | NSD1 | c.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=) | |
5 | g.177280822A>T | CA447961532 | NSD1 | c.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 |
5 | g.177280823G>A | CA362313898 | NSD1 | c.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 |
5 | g.177280823G>C | CA362313895 | NSD1 | c.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) | |
5 | g.177280823G= | CA1603550670 | NSD1 | c.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=) | |
5 | g.177280823G>T | CA362313892 | NSD1 | c.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) | |
5 | g.177280824A>C | CA362313902 | NSD1 | c.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) | |
5 | g.177280824A>G | CA362313905 | NSD1 | c.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) | |
5 | g.177280824A>T | CA362313908 | NSD1 | c.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) | |
5 | g.177280825T>A | CA362313911 | NSD1 | c.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 |
5 | g.177280825T>C | CA447961536 | NSD1 | c.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 |
5 | g.177280825T>G | CA362313913 | NSD1 | c.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) | |
5 | g.177280825T= | CA1603550673 | NSD1 | c.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=) | |
5 | g.177280826A>C | CA362313918 | NSD1 | c.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) | |
5 | g.177280826A>G | CA362313920 | NSD1 | c.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) | |
5 | g.177280826A>T | CA362313922 | NSD1 | c.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) | |
5 | g.177280827T>A | CA362313925 | NSD1 | c.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) | |
5 | g.177280827T>C | CA294995 | NSD1 | c.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 |
5 | g.177280827T>G | CA362313929 | NSD1 | c.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) | |
5 | g.177280827T= | CA1603550677 | NSD1 | c.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=) | |
5 | g.177280828T>A | CA447961537 | NSD1 | c.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=) | |
5 | g.177280828T>C | CA447961538 | NSD1 | c.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=) | |
5 | g.177280828T>G | CA362313932 | NSD1 | c.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) | |
5 | g.177280829A>C | CA362313938 | NSD1 | c.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) | |
5 | g.177280829A>G | CA362313942 | NSD1 | c.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) | |
5 | g.177280829A>T | CA362313935 | NSD1 | c.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) | |
5 | g.177280833del | CA447961539 | NSD1 | c.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 |
5 | g.177280830A>C | CA362313950 | NSD1 | c.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) | |
5 | g.177280830A>G | CA362313946 | NSD1 | c.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) | |
5 | g.177280830A>T | CA362313953 | NSD1 | c.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) | |
5 | g.177280831A>C | CA362313956 | NSD1 | c.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) | |
5 | g.177280831A>G | CA447961540 | NSD1 | c.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=) | |
5 | g.177280831A>T | CA362313961 | NSD1 | c.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) | |
5 | g.177280832A>C | CA362313965 | NSD1 | c.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) | |
5 | g.177280832A>G | CA362313967 | NSD1 | c.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 |
5 | g.177280832A>T | CA362313977 | NSD1 | c.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) | |
5 | g.177280832_177280833insTT | CA2534231204 | NSD1 | c.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) | |
5 | g.177280833A>C | CA362313980 | NSD1 | c.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) | |
5 | g.177280833A>G | CA362313986 | NSD1 | c.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) | |
5 | g.177280833A>T | CA362313988 | NSD1 | c.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) | |
5 | g.177280833_177280834delinsAG | CA1603550682 | NSD1 | c.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=) | |
5 | g.177280834G>A | CA447961541 | NSD1 | c.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=) | |
5 | g.177280834G>C | CA362313990 | NSD1 | c.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) | |
5 | g.177280834G>T | CA362313991 | NSD1 | c.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 |
5 | g.177280835del | CA16618183 | NSD1 | c.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 |
5 | g.177280835G>A | CA362313995 | NSD1 | c.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 |
5 | g.177280835G>C | CA362313997 | NSD1 | c.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) | |
5 | g.177280835G= | CA1603550694 | NSD1 | c.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=) | |
5 | g.177280835G>T | CA10588401 | NSD1 | c.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 |
5 | g.177280836T>A | CA362314006 | NSD1 | c.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) | |
5 | g.177280836T>C | CA362314001 | NSD1 | c.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) | |
5 | g.177280836T>G | CA362314004 | NSD1 | c.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) | |
5 | g.177280840A= | CA1603550701 | NSD1 | c.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=) | |
5 | g.177280840A>G | CA564898971 | NSD1 | c.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 |
5 | g.177280841A= | CA1603550705 | NSD1 | c.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=) | |
5 | g.177280841A>G | CA3577900 | NSD1 | c.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 |
5 | g.177280841A>T | CA132847407 | NSD1 | c.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 |
5 | g.177280844A>G | CA2676691180 | NSD1 | c.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 |
5 | g.177280845G>A | CA1603550710 | NSD1 | c.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 |
5 | g.177280845G= | CA1603550708 | NSD1 | c.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=) | |
5 | g.177280845G>T | CA2676691181 | NSD1 | c.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 |
5 | g.177280846C>T | CA2711004393 | NSD1 | c.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 |
5 | g.177280846_177280847insA | CA2676691182 | NSD1 | c.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 |
5 | g.177280847_177280848delinsTA | CA1603550713 | NSD1 | c.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) | |
5 | g.177280848A>G | CA2676691183 | NSD1 | c.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 |
5 | g.177280850del | CA1603550715 | NSD1 | c.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 |
5 | g.177280850A>T | CA2578495022 | NSD1 | c.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 |
5 | g.177280852_177280859del | CA2676691184 | NSD1 | c.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 |
5 | g.177280852T>G | CA1603550719 | NSD1 | c.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 |
5 | g.177280852T= | CA1603550717 | NSD1 | c.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=) | |
5 | g.177280853A= | CA1603550723 | NSD1 | c.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=) | |
5 | g.177280853A>G | CA3577901 | NSD1 | c.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 |
5 | g.177280854C>A | CA2711004395 | NSD1 | c.5019+20C>A (n.5019+20C>A) c.534+20C>A (n.534+20C>A) n.5475+20C>A c.5583+20C>A (n.5583+20C>A) n.5289+20C>A n.6039+20C>A n.2831C>A c.5892+20C>A (n.5892+20C>A) c.5085+20C>A (n.5085+20C>A) c.1386+20C>A (n.1386+20C>A) c.5472+20C>A (n.5472+20C>A) c.4836+20C>A (n.4836+20C>A) c.1626+20C>A (n.1626+20C>A) | dbSNP |
5 | g.177280855C= | CA1603550729 | NSD1 | c.5019+21C= (n.5019+21C=) c.534+21C= (n.534+21C=) n.5475+21C= c.5583+21C= (n.5583+21C=) n.5289+21C= n.6039+21C= n.2832C= c.5892+21C= (n.5892+21C=) c.5085+21C= (n.5085+21C=) c.1386+21C= (n.1386+21C=) c.5472+21C= (n.5472+21C=) c.4836+21C= (n.4836+21C=) c.1626+21C= (n.1626+21C=) | |
5 | g.177280855C>T | CA564898972 | NSD1 | c.5019+21C>T (n.5019+21C>T) c.534+21C>T (n.534+21C>T) n.5475+21C>T c.5583+21C>T (n.5583+21C>T) n.5289+21C>T n.6039+21C>T n.2832C>T c.5892+21C>T (n.5892+21C>T) c.5085+21C>T (n.5085+21C>T) c.1386+21C>T (n.1386+21C>T) c.5472+21C>T (n.5472+21C>T) c.4836+21C>T (n.4836+21C>T) c.1626+21C>T (n.1626+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177280856A= | CA1603550731 | NSD1 | c.5019+22A= (n.5019+22A=) c.534+22A= (n.534+22A=) n.5475+22A= c.5583+22A= (n.5583+22A=) n.5289+22A= n.6039+22A= n.2833A= c.5892+22A= (n.5892+22A=) c.5085+22A= (n.5085+22A=) c.1386+22A= (n.1386+22A=) c.5472+22A= (n.5472+22A=) c.4836+22A= (n.4836+22A=) c.1626+22A= (n.1626+22A=) | |
5 | g.177280856A>G | CA3577902 | NSD1 | c.5019+22A>G (n.5019+22A>G) c.534+22A>G (n.534+22A>G) n.5475+22A>G c.5583+22A>G (n.5583+22A>G) n.5289+22A>G n.6039+22A>G n.2833A>G c.5892+22A>G (n.5892+22A>G) c.5085+22A>G (n.5085+22A>G) c.1386+22A>G (n.1386+22A>G) c.5472+22A>G (n.5472+22A>G) c.4836+22A>G (n.4836+22A>G) c.1626+22A>G (n.1626+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177280857T>G | CA3577903 | NSD1 | c.5019+23T>G (n.5019+23T>G) c.534+23T>G (n.534+23T>G) n.5475+23T>G c.5583+23T>G (n.5583+23T>G) n.5289+23T>G n.6039+23T>G n.2834T>G c.5892+23T>G (n.5892+23T>G) c.5085+23T>G (n.5085+23T>G) c.1386+23T>G (n.1386+23T>G) c.5472+23T>G (n.5472+23T>G) c.4836+23T>G (n.4836+23T>G) c.1626+23T>G (n.1626+23T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177280857T= | CA1603550736 | NSD1 | c.5019+23T= (n.5019+23T=) c.534+23T= (n.534+23T=) n.5475+23T= c.5583+23T= (n.5583+23T=) n.5289+23T= n.6039+23T= n.2834T= c.5892+23T= (n.5892+23T=) c.5085+23T= (n.5085+23T=) c.1386+23T= (n.1386+23T=) c.5472+23T= (n.5472+23T=) c.4836+23T= (n.4836+23T=) c.1626+23T= (n.1626+23T=) | |
5 | g.177280858A= | CA1603550738 | NSD1 | c.5019+24A= (n.5019+24A=) c.534+24A= (n.534+24A=) n.5475+24A= c.5583+24A= (n.5583+24A=) n.5289+24A= n.6039+24A= n.2835A= c.5892+24A= (n.5892+24A=) c.5085+24A= (n.5085+24A=) c.1386+24A= (n.1386+24A=) c.5472+24A= (n.5472+24A=) c.4836+24A= (n.4836+24A=) c.1626+24A= (n.1626+24A=) | |
5 | g.177280858A>C | CA3577904 | NSD1 | c.5019+24A>C (n.5019+24A>C) c.534+24A>C (n.534+24A>C) n.5475+24A>C c.5583+24A>C (n.5583+24A>C) n.5289+24A>C n.6039+24A>C n.2835A>C c.5892+24A>C (n.5892+24A>C) c.5085+24A>C (n.5085+24A>C) c.1386+24A>C (n.1386+24A>C) c.5472+24A>C (n.5472+24A>C) c.4836+24A>C (n.4836+24A>C) c.1626+24A>C (n.1626+24A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177280858A>G | CA564898973 | NSD1 | c.5019+24A>G (n.5019+24A>G) c.534+24A>G (n.534+24A>G) n.5475+24A>G c.5583+24A>G (n.5583+24A>G) n.5289+24A>G n.6039+24A>G n.2835A>G c.5892+24A>G (n.5892+24A>G) c.5085+24A>G (n.5085+24A>G) c.1386+24A>G (n.1386+24A>G) c.5472+24A>G (n.5472+24A>G) c.4836+24A>G (n.4836+24A>G) c.1626+24A>G (n.1626+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177280858_177280860dup | CA2676691185 | NSD1 | c.5019+24_5019+26dup (n.5019+24_5019+26dup) c.534+24_534+26dup (n.534+24_534+26dup) n.5475+24_5475+26dup c.5583+24_5583+26dup (n.5583+24_5583+26dup) n.5289+24_5289+26dup n.6039+24_6039+26dup n.2835_2837dup c.5892+24_5892+26dup (n.5892+24_5892+26dup) c.5085+24_5085+26dup (n.5085+24_5085+26dup) c.1386+24_1386+26dup (n.1386+24_1386+26dup) c.5472+24_5472+26dup (n.5472+24_5472+26dup) c.4836+24_4836+26dup (n.4836+24_4836+26dup) c.1626+24_1626+26dup (n.1626+24_1626+26dup) | gnomAD v4 |
5 | g.177280860A= | CA1603550743 | NSD1 | c.5019+26A= (n.5019+26A=) c.534+26A= (n.534+26A=) n.5475+26A= c.5583+26A= (n.5583+26A=) n.5289+26A= n.6039+26A= n.2837A= c.5892+26A= (n.5892+26A=) c.5085+26A= (n.5085+26A=) c.1386+26A= (n.1386+26A=) c.5472+26A= (n.5472+26A=) c.4836+26A= (n.4836+26A=) c.1626+26A= (n.1626+26A=) | |
5 | g.177280860A>G | CA3577905 | NSD1 | c.5019+26A>G (n.5019+26A>G) c.534+26A>G (n.534+26A>G) n.5475+26A>G c.5583+26A>G (n.5583+26A>G) n.5289+26A>G n.6039+26A>G n.2837A>G c.5892+26A>G (n.5892+26A>G) c.5085+26A>G (n.5085+26A>G) c.1386+26A>G (n.1386+26A>G) c.5472+26A>G (n.5472+26A>G) c.4836+26A>G (n.4836+26A>G) c.1626+26A>G (n.1626+26A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177280860A>T | CA2710740366 | NSD1 | c.5019+26A>T (n.5019+26A>T) c.534+26A>T (n.534+26A>T) n.5475+26A>T c.5583+26A>T (n.5583+26A>T) n.5289+26A>T n.6039+26A>T n.2837A>T c.5892+26A>T (n.5892+26A>T) c.5085+26A>T (n.5085+26A>T) c.1386+26A>T (n.1386+26A>T) c.5472+26A>T (n.5472+26A>T) c.4836+26A>T (n.4836+26A>T) c.1626+26A>T (n.1626+26A>T) | dbSNP |
5 | g.177280861C= | CA1603550747 | NSD1 | c.5019+27C= (n.5019+27C=) c.534+27C= (n.534+27C=) n.5475+27C= c.5583+27C= (n.5583+27C=) n.5289+27C= n.6039+27C= n.2838C= c.5892+27C= (n.5892+27C=) c.5085+27C= (n.5085+27C=) c.1386+27C= (n.1386+27C=) c.5472+27C= (n.5472+27C=) c.4836+27C= (n.4836+27C=) c.1626+27C= (n.1626+27C=) | |
5 | g.177280861C>T | CA3577906 | NSD1 | c.5019+27C>T (n.5019+27C>T) c.534+27C>T (n.534+27C>T) n.5475+27C>T c.5583+27C>T (n.5583+27C>T) n.5289+27C>T n.6039+27C>T n.2838C>T c.5892+27C>T (n.5892+27C>T) c.5085+27C>T (n.5085+27C>T) c.1386+27C>T (n.1386+27C>T) c.5472+27C>T (n.5472+27C>T) c.4836+27C>T (n.4836+27C>T) c.1626+27C>T (n.1626+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177280862T>G | CA2676691186 | NSD1 | c.5019+28T>G (n.5019+28T>G) c.534+28T>G (n.534+28T>G) n.5475+28T>G c.5583+28T>G (n.5583+28T>G) n.5289+28T>G n.6039+28T>G n.2839T>G c.5892+28T>G (n.5892+28T>G) c.5085+28T>G (n.5085+28T>G) c.1386+28T>G (n.1386+28T>G) c.5472+28T>G (n.5472+28T>G) c.4836+28T>G (n.4836+28T>G) c.1626+28T>G (n.1626+28T>G) | gnomAD v4 |
5 | g.177280863T>G | CA2676691187 | NSD1 | c.5019+29T>G (n.5019+29T>G) c.534+29T>G (n.534+29T>G) n.5475+29T>G c.5583+29T>G (n.5583+29T>G) n.5289+29T>G n.6039+29T>G n.2840T>G c.5892+29T>G (n.5892+29T>G) c.5085+29T>G (n.5085+29T>G) c.1386+29T>G (n.1386+29T>G) c.5472+29T>G (n.5472+29T>G) c.4836+29T>G (n.4836+29T>G) c.1626+29T>G (n.1626+29T>G) | gnomAD v4 |
5 | g.177280865C>A | CA1603550752 | NSD1 | c.5019+31C>A (n.5019+31C>A) c.534+31C>A (n.534+31C>A) n.5475+31C>A c.5583+31C>A (n.5583+31C>A) n.5289+31C>A n.6039+31C>A n.2842C>A c.5892+31C>A (n.5892+31C>A) c.5085+31C>A (n.5085+31C>A) c.1386+31C>A (n.1386+31C>A) c.5472+31C>A (n.5472+31C>A) c.4836+31C>A (n.4836+31C>A) c.1626+31C>A (n.1626+31C>A) | dbSNP gnomAD v4 |
5 | g.177280865C= | CA1603550750 | NSD1 | c.5019+31C= (n.5019+31C=) c.534+31C= (n.534+31C=) n.5475+31C= c.5583+31C= (n.5583+31C=) n.5289+31C= n.6039+31C= n.2842C= c.5892+31C= (n.5892+31C=) c.5085+31C= (n.5085+31C=) c.1386+31C= (n.1386+31C=) c.5472+31C= (n.5472+31C=) c.4836+31C= (n.4836+31C=) c.1626+31C= (n.1626+31C=) | |
5 | g.177280865C>T | CA132847474 | NSD1 | c.5019+31C>T (n.5019+31C>T) c.534+31C>T (n.534+31C>T) n.5475+31C>T c.5583+31C>T (n.5583+31C>T) n.5289+31C>T n.6039+31C>T n.2842C>T c.5892+31C>T (n.5892+31C>T) c.5085+31C>T (n.5085+31C>T) c.1386+31C>T (n.1386+31C>T) c.5472+31C>T (n.5472+31C>T) c.4836+31C>T (n.4836+31C>T) c.1626+31C>T (n.1626+31C>T) | dbSNP gnomAD v4 |
5 | g.177280866T>C | CA3577907 | NSD1 | c.5019+32T>C (n.5019+32T>C) c.534+32T>C (n.534+32T>C) n.5475+32T>C c.5583+32T>C (n.5583+32T>C) n.5289+32T>C n.6039+32T>C n.2843T>C c.5892+32T>C (n.5892+32T>C) c.5085+32T>C (n.5085+32T>C) c.1386+32T>C (n.1386+32T>C) c.5472+32T>C (n.5472+32T>C) c.4836+32T>C (n.4836+32T>C) c.1626+32T>C (n.1626+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177280866T= | CA1603550753 | NSD1 | c.5019+32T= (n.5019+32T=) c.534+32T= (n.534+32T=) n.5475+32T= c.5583+32T= (n.5583+32T=) n.5289+32T= n.6039+32T= n.2843T= c.5892+32T= (n.5892+32T=) c.5085+32T= (n.5085+32T=) c.1386+32T= (n.1386+32T=) c.5472+32T= (n.5472+32T=) c.4836+32T= (n.4836+32T=) c.1626+32T= (n.1626+32T=) |