Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177294040_177294057dup | CA645548644 | NSD1 | c.5799_5816dup (p.Pro1939_Gly1940insProValProLeuProPro) c.1314_1331dup (p.Pro444_Gly445insProValProLeuProPro) n.6255_6272dup n.1088_1105dup c.6363_6380dup (p.Pro2127_Gly2128insProValProLeuProPro) n.6069_6086dup c.6672_6689dup (p.Pro2230_Gly2231insProValProLeuProPro) c.5865_5882dup (p.Pro1961_Gly1962insProValProLeuProPro) c.2166_2183dup (p.Pro728_Gly729insProValProLeuProPro) c.6252_6269dup (p.Pro2090_Gly2091insProValProLeuProPro) c.5616_5633dup (p.Pro1878_Gly1879insProValProLeuProPro) c.2406_2423dup (p.Pro808_Gly809insProValProLeuProPro) | COSMIC COSMIC |
5 | g.177294043A= | CA1603535671 | NSD1 | c.5802A= (p.Pro1934=) c.1317A= (p.Pro439=) n.6258A= n.1091A= c.6366A= (p.Pro2122=) n.6072A= c.6675A= (p.Pro2225=) c.5868A= (p.Pro1956=) c.2169A= (p.Pro723=) c.6255A= (p.Pro2085=) c.5619A= (p.Pro1873=) c.2409A= (p.Pro803=) | |
5 | g.177294043A>C | CA3578026 | NSD1 | c.5802A>C (p.Pro1934=) c.1317A>C (p.Pro439=) n.6258A>C n.1091A>C c.6366A>C (p.Pro2122=) n.6072A>C c.6675A>C (p.Pro2225=) c.5868A>C (p.Pro1956=) c.2169A>C (p.Pro723=) c.6255A>C (p.Pro2085=) c.5619A>C (p.Pro1873=) c.2409A>C (p.Pro803=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294043A>G | CA447961653 | NSD1 | c.5802A>G (p.Pro1934=) c.1317A>G (p.Pro439=) n.6258A>G n.1091A>G c.6366A>G (p.Pro2122=) n.6072A>G c.6675A>G (p.Pro2225=) c.5868A>G (p.Pro1956=) c.2169A>G (p.Pro723=) c.6255A>G (p.Pro2085=) c.5619A>G (p.Pro1873=) c.2409A>G (p.Pro803=) | |
5 | g.177294043A>T | CA447961654 | NSD1 | c.5802A>T (p.Pro1934=) c.1317A>T (p.Pro439=) n.6258A>T n.1091A>T c.6366A>T (p.Pro2122=) n.6072A>T c.6675A>T (p.Pro2225=) c.5868A>T (p.Pro1956=) c.2169A>T (p.Pro723=) c.6255A>T (p.Pro2085=) c.5619A>T (p.Pro1873=) c.2409A>T (p.Pro803=) | |
5 | g.177294044G>A | CA362324861 | NSD1 | c.5803G>A (p.Val1935Ile) c.1318G>A (p.Val440Ile) n.6259G>A n.1092G>A c.6367G>A (p.Val2123Ile) n.6073G>A c.6676G>A (p.Val2226Ile) c.5869G>A (p.Val1957Ile) c.2170G>A (p.Val724Ile) c.6256G>A (p.Val2086Ile) c.5620G>A (p.Val1874Ile) c.2410G>A (p.Val804Ile) | dbSNP gnomAD v4 |
5 | g.177294044G>C | CA362324863 | NSD1 | c.5803G>C (p.Val1935Leu) c.1318G>C (p.Val440Leu) n.6259G>C n.1092G>C c.6367G>C (p.Val2123Leu) n.6073G>C c.6676G>C (p.Val2226Leu) c.5869G>C (p.Val1957Leu) c.2170G>C (p.Val724Leu) c.6256G>C (p.Val2086Leu) c.5620G>C (p.Val1874Leu) c.2410G>C (p.Val804Leu) | |
5 | g.177294044G>T | CA362324864 | NSD1 | c.5803G>T (p.Val1935Leu) c.1318G>T (p.Val440Leu) n.6259G>T n.1092G>T c.6367G>T (p.Val2123Leu) n.6073G>T c.6676G>T (p.Val2226Leu) c.5869G>T (p.Val1957Leu) c.2170G>T (p.Val724Leu) c.6256G>T (p.Val2086Leu) c.5620G>T (p.Val1874Leu) c.2410G>T (p.Val804Leu) | |
5 | g.177294045T>A | CA362324869 | NSD1 | c.5804T>A (p.Val1935Glu) c.1319T>A (p.Val440Glu) n.6260T>A n.1093T>A c.6368T>A (p.Val2123Glu) n.6074T>A c.6677T>A (p.Val2226Glu) c.5870T>A (p.Val1957Glu) c.2171T>A (p.Val724Glu) c.6257T>A (p.Val2086Glu) c.5621T>A (p.Val1874Glu) c.2411T>A (p.Val804Glu) | |
5 | g.177294045T>C | CA362324871 | NSD1 | c.5804T>C (p.Val1935Ala) c.1319T>C (p.Val440Ala) n.6260T>C n.1093T>C c.6368T>C (p.Val2123Ala) n.6074T>C c.6677T>C (p.Val2226Ala) c.5870T>C (p.Val1957Ala) c.2171T>C (p.Val724Ala) c.6257T>C (p.Val2086Ala) c.5621T>C (p.Val1874Ala) c.2411T>C (p.Val804Ala) | |
5 | g.177294045T>G | CA362324875 | NSD1 | c.5804T>G (p.Val1935Gly) c.1319T>G (p.Val440Gly) n.6260T>G n.1093T>G c.6368T>G (p.Val2123Gly) n.6074T>G c.6677T>G (p.Val2226Gly) c.5870T>G (p.Val1957Gly) c.2171T>G (p.Val724Gly) c.6257T>G (p.Val2086Gly) c.5621T>G (p.Val1874Gly) c.2411T>G (p.Val804Gly) | |
5 | g.177294046A>C | CA447961657 | NSD1 | c.5805A>C (p.Val1935=) c.1320A>C (p.Val440=) n.6261A>C n.1094A>C c.6369A>C (p.Val2123=) n.6075A>C c.6678A>C (p.Val2226=) c.5871A>C (p.Val1957=) c.2172A>C (p.Val724=) c.6258A>C (p.Val2086=) c.5622A>C (p.Val1874=) c.2412A>C (p.Val804=) | |
5 | g.177294046A>G | CA447961659 | NSD1 | c.5805A>G (p.Val1935=) c.1320A>G (p.Val440=) n.6261A>G n.1094A>G c.6369A>G (p.Val2123=) n.6075A>G c.6678A>G (p.Val2226=) c.5871A>G (p.Val1957=) c.2172A>G (p.Val724=) c.6258A>G (p.Val2086=) c.5622A>G (p.Val1874=) c.2412A>G (p.Val804=) | |
5 | g.177294046A>T | CA447961658 | NSD1 | c.5805A>T (p.Val1935=) c.1320A>T (p.Val440=) n.6261A>T n.1094A>T c.6369A>T (p.Val2123=) n.6075A>T c.6678A>T (p.Val2226=) c.5871A>T (p.Val1957=) c.2172A>T (p.Val724=) c.6258A>T (p.Val2086=) c.5622A>T (p.Val1874=) c.2412A>T (p.Val804=) | |
5 | g.177294047C>A | CA362324878 | NSD1 | c.5806C>A (p.Pro1936Thr) c.1321C>A (p.Pro441Thr) n.6262C>A n.1095C>A c.6370C>A (p.Pro2124Thr) n.6076C>A c.6679C>A (p.Pro2227Thr) c.5872C>A (p.Pro1958Thr) c.2173C>A (p.Pro725Thr) c.6259C>A (p.Pro2087Thr) c.5623C>A (p.Pro1875Thr) c.2413C>A (p.Pro805Thr) | |
5 | g.177294047C>G | CA362324881 | NSD1 | c.5806C>G (p.Pro1936Ala) c.1321C>G (p.Pro441Ala) n.6262C>G n.1095C>G c.6370C>G (p.Pro2124Ala) n.6076C>G c.6679C>G (p.Pro2227Ala) c.5872C>G (p.Pro1958Ala) c.2173C>G (p.Pro725Ala) c.6259C>G (p.Pro2087Ala) c.5623C>G (p.Pro1875Ala) c.2413C>G (p.Pro805Ala) | |
5 | g.177294047C>T | CA362324883 | NSD1 | c.5806C>T (p.Pro1936Ser) c.1321C>T (p.Pro441Ser) n.6262C>T n.1095C>T c.6370C>T (p.Pro2124Ser) n.6076C>T c.6679C>T (p.Pro2227Ser) c.5872C>T (p.Pro1958Ser) c.2173C>T (p.Pro725Ser) c.6259C>T (p.Pro2087Ser) c.5623C>T (p.Pro1875Ser) c.2413C>T (p.Pro805Ser) | dbSNP |
5 | g.177294048C>A | CA362324890 | NSD1 | c.5807C>A (p.Pro1936Gln) c.1322C>A (p.Pro441Gln) n.6263C>A n.1096C>A c.6371C>A (p.Pro2124Gln) n.6077C>A c.6680C>A (p.Pro2227Gln) c.5873C>A (p.Pro1958Gln) c.2174C>A (p.Pro725Gln) c.6260C>A (p.Pro2087Gln) c.5624C>A (p.Pro1875Gln) c.2414C>A (p.Pro805Gln) | dbSNP |
5 | g.177294048C= | CA1603535674 | NSD1 | c.5807C= (p.Pro1936=) c.1322C= (p.Pro441=) n.6263C= n.1096C= c.6371C= (p.Pro2124=) n.6077C= c.6680C= (p.Pro2227=) c.5873C= (p.Pro1958=) c.2174C= (p.Pro725=) c.6260C= (p.Pro2087=) c.5624C= (p.Pro1875=) c.2414C= (p.Pro805=) | |
5 | g.177294048C>G | CA362324886 | NSD1 | c.5807C>G (p.Pro1936Arg) c.1322C>G (p.Pro441Arg) n.6263C>G n.1096C>G c.6371C>G (p.Pro2124Arg) n.6077C>G c.6680C>G (p.Pro2227Arg) c.5873C>G (p.Pro1958Arg) c.2174C>G (p.Pro725Arg) c.6260C>G (p.Pro2087Arg) c.5624C>G (p.Pro1875Arg) c.2414C>G (p.Pro805Arg) | |
5 | g.177294048C>T | CA3578027 | NSD1 | c.5807C>T (p.Pro1936Leu) c.1322C>T (p.Pro441Leu) n.6263C>T n.1096C>T c.6371C>T (p.Pro2124Leu) n.6077C>T c.6680C>T (p.Pro2227Leu) c.5873C>T (p.Pro1958Leu) c.2174C>T (p.Pro725Leu) c.6260C>T (p.Pro2087Leu) c.5624C>T (p.Pro1875Leu) c.2414C>T (p.Pro805Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294049G>A | CA3578028 | NSD1 | c.5808G>A (p.Pro1936=) c.1323G>A (p.Pro441=) n.6264G>A n.1097G>A c.6372G>A (p.Pro2124=) n.6078G>A c.6681G>A (p.Pro2227=) c.5874G>A (p.Pro1958=) c.2175G>A (p.Pro725=) c.6261G>A (p.Pro2087=) c.5625G>A (p.Pro1875=) c.2415G>A (p.Pro805=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294049G>C | CA447961663 | NSD1 | c.5808G>C (p.Pro1936=) c.1323G>C (p.Pro441=) n.6264G>C n.1097G>C c.6372G>C (p.Pro2124=) n.6078G>C c.6681G>C (p.Pro2227=) c.5874G>C (p.Pro1958=) c.2175G>C (p.Pro725=) c.6261G>C (p.Pro2087=) c.5625G>C (p.Pro1875=) c.2415G>C (p.Pro805=) | dbSNP |
5 | g.177294049G= | CA1603535676 | NSD1 | c.5808G= (p.Pro1936=) c.1323G= (p.Pro441=) n.6264G= n.1097G= c.6372G= (p.Pro2124=) n.6078G= c.6681G= (p.Pro2227=) c.5874G= (p.Pro1958=) c.2175G= (p.Pro725=) c.6261G= (p.Pro2087=) c.5625G= (p.Pro1875=) c.2415G= (p.Pro805=) | |
5 | g.177294049G>T | CA447961664 | NSD1 | c.5808G>T (p.Pro1936=) c.1323G>T (p.Pro441=) n.6264G>T n.1097G>T c.6372G>T (p.Pro2124=) n.6078G>T c.6681G>T (p.Pro2227=) c.5874G>T (p.Pro1958=) c.2175G>T (p.Pro725=) c.6261G>T (p.Pro2087=) c.5625G>T (p.Pro1875=) c.2415G>T (p.Pro805=) | |
5 | g.177294050C>A | CA362324896 | NSD1 | c.5809C>A (p.Leu1937Met) c.1324C>A (p.Leu442Met) n.6265C>A n.1098C>A c.6373C>A (p.Leu2125Met) n.6079C>A c.6682C>A (p.Leu2228Met) c.5875C>A (p.Leu1959Met) c.2176C>A (p.Leu726Met) c.6262C>A (p.Leu2088Met) c.5626C>A (p.Leu1876Met) c.2416C>A (p.Leu806Met) | |
5 | g.177294050C>G | CA362324905 | NSD1 | c.5809C>G (p.Leu1937Val) c.1324C>G (p.Leu442Val) n.6265C>G n.1098C>G c.6373C>G (p.Leu2125Val) n.6079C>G c.6682C>G (p.Leu2228Val) c.5875C>G (p.Leu1959Val) c.2176C>G (p.Leu726Val) c.6262C>G (p.Leu2088Val) c.5626C>G (p.Leu1876Val) c.2416C>G (p.Leu806Val) | |
5 | g.177294050C>T | CA447961668 | NSD1 | c.5809C>T (p.Leu1937=) c.1324C>T (p.Leu442=) n.6265C>T n.1098C>T c.6373C>T (p.Leu2125=) n.6079C>T c.6682C>T (p.Leu2228=) c.5875C>T (p.Leu1959=) c.2176C>T (p.Leu726=) c.6262C>T (p.Leu2088=) c.5626C>T (p.Leu1876=) c.2416C>T (p.Leu806=) | |
5 | g.177294051T>A | CA362324909 | NSD1 | c.5810T>A (p.Leu1937Gln) c.1325T>A (p.Leu442Gln) n.6266T>A n.1099T>A c.6374T>A (p.Leu2125Gln) n.6080T>A c.6683T>A (p.Leu2228Gln) c.5876T>A (p.Leu1959Gln) c.2177T>A (p.Leu726Gln) c.6263T>A (p.Leu2088Gln) c.5627T>A (p.Leu1876Gln) c.2417T>A (p.Leu806Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294051T>C | CA362324915 | NSD1 | c.5810T>C (p.Leu1937Pro) c.1325T>C (p.Leu442Pro) n.6266T>C n.1099T>C c.6374T>C (p.Leu2125Pro) n.6080T>C c.6683T>C (p.Leu2228Pro) c.5876T>C (p.Leu1959Pro) c.2177T>C (p.Leu726Pro) c.6263T>C (p.Leu2088Pro) c.5627T>C (p.Leu1876Pro) c.2417T>C (p.Leu806Pro) | |
5 | g.177294051T>G | CA362324917 | NSD1 | c.5810T>G (p.Leu1937Arg) c.1325T>G (p.Leu442Arg) n.6266T>G n.1099T>G c.6374T>G (p.Leu2125Arg) n.6080T>G c.6683T>G (p.Leu2228Arg) c.5876T>G (p.Leu1959Arg) c.2177T>G (p.Leu726Arg) c.6263T>G (p.Leu2088Arg) c.5627T>G (p.Leu1876Arg) c.2417T>G (p.Leu806Arg) | |
5 | g.177294051T= | CA1603535680 | NSD1 | c.5810T= (p.Leu1937=) c.1325T= (p.Leu442=) n.6266T= n.1099T= c.6374T= (p.Leu2125=) n.6080T= c.6683T= (p.Leu2228=) c.5876T= (p.Leu1959=) c.2177T= (p.Leu726=) c.6263T= (p.Leu2088=) c.5627T= (p.Leu1876=) c.2417T= (p.Leu806=) | |
5 | g.177294051_177294052delinsCT | CA1139659264 | NSD1 | c.5810_5811delinsCT (p.Leu1937Pro) c.1325_1326delinsCT (p.Leu442Pro) n.6266_6267delinsCT n.1099_1100delinsCT c.6374_6375delinsCT (p.Leu2125Pro) n.6080_6081delinsCT c.6683_6684delinsCT (p.Leu2228Pro) c.5876_5877delinsCT (p.Leu1959Pro) c.2177_2178delinsCT (p.Leu726Pro) c.6263_6264delinsCT (p.Leu2088Pro) c.5627_5628delinsCT (p.Leu1876Pro) c.2417_2418delinsCT (p.Leu806Pro) | ClinVar dbSNP |
5 | g.177294051_177294052delinsTG | CA1603535682 | NSD1 | c.5810_5811delinsTG (p.Leu1937=) c.1325_1326delinsTG (p.Leu442=) n.6266_6267delinsTG n.1099_1100delinsTG c.6374_6375delinsTG (p.Leu2125=) n.6080_6081delinsTG c.6683_6684delinsTG (p.Leu2228=) c.5876_5877delinsTG (p.Leu1959=) c.2177_2178delinsTG (p.Leu726=) c.6263_6264delinsTG (p.Leu2088=) c.5627_5628delinsTG (p.Leu1876=) c.2417_2418delinsTG (p.Leu806=) | |
5 | g.177294052G>A | CA447961672 | NSD1 | c.5811G>A (p.Leu1937=) c.1326G>A (p.Leu442=) n.6267G>A n.1100G>A c.6375G>A (p.Leu2125=) n.6081G>A c.6684G>A (p.Leu2228=) c.5877G>A (p.Leu1959=) c.2178G>A (p.Leu726=) c.6264G>A (p.Leu2088=) c.5628G>A (p.Leu1876=) c.2418G>A (p.Leu806=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294052G>C | CA447961673 | NSD1 | c.5811G>C (p.Leu1937=) c.1326G>C (p.Leu442=) n.6267G>C n.1100G>C c.6375G>C (p.Leu2125=) n.6081G>C c.6684G>C (p.Leu2228=) c.5877G>C (p.Leu1959=) c.2178G>C (p.Leu726=) c.6264G>C (p.Leu2088=) c.5628G>C (p.Leu1876=) c.2418G>C (p.Leu806=) | |
5 | g.177294052G= | CA1603535685 | NSD1 | c.5811G= (p.Leu1937=) c.1326G= (p.Leu442=) n.6267G= n.1100G= c.6375G= (p.Leu2125=) n.6081G= c.6684G= (p.Leu2228=) c.5877G= (p.Leu1959=) c.2178G= (p.Leu726=) c.6264G= (p.Leu2088=) c.5628G= (p.Leu1876=) c.2418G= (p.Leu806=) | |
5 | g.177294052G>T | CA447961674 | NSD1 | c.5811G>T (p.Leu1937=) c.1326G>T (p.Leu442=) n.6267G>T n.1100G>T c.6375G>T (p.Leu2125=) n.6081G>T c.6684G>T (p.Leu2228=) c.5877G>T (p.Leu1959=) c.2178G>T (p.Leu726=) c.6264G>T (p.Leu2088=) c.5628G>T (p.Leu1876=) c.2418G>T (p.Leu806=) | |
5 | g.177294053C>A | CA362324922 | NSD1 | c.5812C>A (p.Pro1938Thr) c.1327C>A (p.Pro443Thr) n.6268C>A n.1101C>A c.6376C>A (p.Pro2126Thr) n.6082C>A c.6685C>A (p.Pro2229Thr) c.5878C>A (p.Pro1960Thr) c.2179C>A (p.Pro727Thr) c.6265C>A (p.Pro2089Thr) c.5629C>A (p.Pro1877Thr) c.2419C>A (p.Pro807Thr) | |
5 | g.177294053C>G | CA362324927 | NSD1 | c.5812C>G (p.Pro1938Ala) c.1327C>G (p.Pro443Ala) n.6268C>G n.1101C>G c.6376C>G (p.Pro2126Ala) n.6082C>G c.6685C>G (p.Pro2229Ala) c.5878C>G (p.Pro1960Ala) c.2179C>G (p.Pro727Ala) c.6265C>G (p.Pro2089Ala) c.5629C>G (p.Pro1877Ala) c.2419C>G (p.Pro807Ala) | |
5 | g.177294053C>T | CA362324929 | NSD1 | c.5812C>T (p.Pro1938Ser) c.1327C>T (p.Pro443Ser) n.6268C>T n.1101C>T c.6376C>T (p.Pro2126Ser) n.6082C>T c.6685C>T (p.Pro2229Ser) c.5878C>T (p.Pro1960Ser) c.2179C>T (p.Pro727Ser) c.6265C>T (p.Pro2089Ser) c.5629C>T (p.Pro1877Ser) c.2419C>T (p.Pro807Ser) | dbSNP |
5 | g.177294054C>A | CA362324935 | NSD1 | c.5813C>A (p.Pro1938His) c.1328C>A (p.Pro443His) n.6269C>A n.1102C>A c.6377C>A (p.Pro2126His) n.6083C>A c.6686C>A (p.Pro2229His) c.5879C>A (p.Pro1960His) c.2180C>A (p.Pro727His) c.6266C>A (p.Pro2089His) c.5630C>A (p.Pro1877His) c.2420C>A (p.Pro807His) | |
5 | g.177294054C>G | CA362324941 | NSD1 | c.5813C>G (p.Pro1938Arg) c.1328C>G (p.Pro443Arg) n.6269C>G n.1102C>G c.6377C>G (p.Pro2126Arg) n.6083C>G c.6686C>G (p.Pro2229Arg) c.5879C>G (p.Pro1960Arg) c.2180C>G (p.Pro727Arg) c.6266C>G (p.Pro2089Arg) c.5630C>G (p.Pro1877Arg) c.2420C>G (p.Pro807Arg) | |
5 | g.177294054C>T | CA362324943 | NSD1 | c.5813C>T (p.Pro1938Leu) c.1328C>T (p.Pro443Leu) n.6269C>T n.1102C>T c.6377C>T (p.Pro2126Leu) n.6083C>T c.6686C>T (p.Pro2229Leu) c.5879C>T (p.Pro1960Leu) c.2180C>T (p.Pro727Leu) c.6266C>T (p.Pro2089Leu) c.5630C>T (p.Pro1877Leu) c.2420C>T (p.Pro807Leu) | |
5 | g.177294055T>A | CA447961678 | NSD1 | c.5814T>A (p.Pro1938=) c.1329T>A (p.Pro443=) n.6270T>A n.1103T>A c.6378T>A (p.Pro2126=) n.6084T>A c.6687T>A (p.Pro2229=) c.5880T>A (p.Pro1960=) c.2181T>A (p.Pro727=) c.6267T>A (p.Pro2089=) c.5631T>A (p.Pro1877=) c.2421T>A (p.Pro807=) | |
5 | g.177294055T>C | CA447961679 | NSD1 | c.5814T>C (p.Pro1938=) c.1329T>C (p.Pro443=) n.6270T>C n.1103T>C c.6378T>C (p.Pro2126=) n.6084T>C c.6687T>C (p.Pro2229=) c.5880T>C (p.Pro1960=) c.2181T>C (p.Pro727=) c.6267T>C (p.Pro2089=) c.5631T>C (p.Pro1877=) c.2421T>C (p.Pro807=) | |
5 | g.177294055T>G | CA447961680 | NSD1 | c.5814T>G (p.Pro1938=) c.1329T>G (p.Pro443=) n.6270T>G n.1103T>G c.6378T>G (p.Pro2126=) n.6084T>G c.6687T>G (p.Pro2229=) c.5880T>G (p.Pro1960=) c.2181T>G (p.Pro727=) c.6267T>G (p.Pro2089=) c.5631T>G (p.Pro1877=) c.2421T>G (p.Pro807=) | |
5 | g.177294056C>A | CA362324945 | NSD1 | c.5815C>A (p.Pro1939Thr) c.1330C>A (p.Pro444Thr) n.6271C>A n.1104C>A c.6379C>A (p.Pro2127Thr) n.6085C>A c.6688C>A (p.Pro2230Thr) c.5881C>A (p.Pro1961Thr) c.2182C>A (p.Pro728Thr) c.6268C>A (p.Pro2090Thr) c.5632C>A (p.Pro1878Thr) c.2422C>A (p.Pro808Thr) | |
5 | g.177294056C= | CA1603535686 | NSD1 | c.5815C= (p.Pro1939=) c.1330C= (p.Pro444=) n.6271C= n.1104C= c.6379C= (p.Pro2127=) n.6085C= c.6688C= (p.Pro2230=) c.5881C= (p.Pro1961=) c.2182C= (p.Pro728=) c.6268C= (p.Pro2090=) c.5632C= (p.Pro1878=) c.2422C= (p.Pro808=) | |
5 | g.177294056C>G | CA362324947 | NSD1 | c.5815C>G (p.Pro1939Ala) c.1330C>G (p.Pro444Ala) n.6271C>G n.1104C>G c.6379C>G (p.Pro2127Ala) n.6085C>G c.6688C>G (p.Pro2230Ala) c.5881C>G (p.Pro1961Ala) c.2182C>G (p.Pro728Ala) c.6268C>G (p.Pro2090Ala) c.5632C>G (p.Pro1878Ala) c.2422C>G (p.Pro808Ala) | |
5 | g.177294056C>T | CA132862537 | NSD1 | c.5815C>T (p.Pro1939Ser) c.1330C>T (p.Pro444Ser) n.6271C>T n.1104C>T c.6379C>T (p.Pro2127Ser) n.6085C>T c.6688C>T (p.Pro2230Ser) c.5881C>T (p.Pro1961Ser) c.2182C>T (p.Pro728Ser) c.6268C>T (p.Pro2090Ser) c.5632C>T (p.Pro1878Ser) c.2422C>T (p.Pro808Ser) | dbSNP |
5 | g.177294057C>A | CA362324951 | NSD1 | c.5816C>A (p.Pro1939Gln) c.1331C>A (p.Pro444Gln) n.6272C>A n.1105C>A c.6380C>A (p.Pro2127Gln) n.6086C>A c.6689C>A (p.Pro2230Gln) c.5882C>A (p.Pro1961Gln) c.2183C>A (p.Pro728Gln) c.6269C>A (p.Pro2090Gln) c.5633C>A (p.Pro1878Gln) c.2423C>A (p.Pro808Gln) | |
5 | g.177294057C>G | CA362324955 | NSD1 | c.5816C>G (p.Pro1939Arg) c.1331C>G (p.Pro444Arg) n.6272C>G n.1105C>G c.6380C>G (p.Pro2127Arg) n.6086C>G c.6689C>G (p.Pro2230Arg) c.5882C>G (p.Pro1961Arg) c.2183C>G (p.Pro728Arg) c.6269C>G (p.Pro2090Arg) c.5633C>G (p.Pro1878Arg) c.2423C>G (p.Pro808Arg) | |
5 | g.177294057C>T | CA362324959 | NSD1 | c.5816C>T (p.Pro1939Leu) c.1331C>T (p.Pro444Leu) n.6272C>T n.1105C>T c.6380C>T (p.Pro2127Leu) n.6086C>T c.6689C>T (p.Pro2230Leu) c.5882C>T (p.Pro1961Leu) c.2183C>T (p.Pro728Leu) c.6269C>T (p.Pro2090Leu) c.5633C>T (p.Pro1878Leu) c.2423C>T (p.Pro808Leu) | |
5 | g.177294058A>C | CA447961685 | NSD1 | c.5817A>C (p.Pro1939=) c.1332A>C (p.Pro444=) n.6273A>C n.1106A>C c.6381A>C (p.Pro2127=) n.6087A>C c.6690A>C (p.Pro2230=) c.5883A>C (p.Pro1961=) c.2184A>C (p.Pro728=) c.6270A>C (p.Pro2090=) c.5634A>C (p.Pro1878=) c.2424A>C (p.Pro808=) | |
5 | g.177294058A>G | CA447961686 | NSD1 | c.5817A>G (p.Pro1939=) c.1332A>G (p.Pro444=) n.6273A>G n.1106A>G c.6381A>G (p.Pro2127=) n.6087A>G c.6690A>G (p.Pro2230=) c.5883A>G (p.Pro1961=) c.2184A>G (p.Pro728=) c.6270A>G (p.Pro2090=) c.5634A>G (p.Pro1878=) c.2424A>G (p.Pro808=) | dbSNP |
5 | g.177294058A>T | CA447961687 | NSD1 | c.5817A>T (p.Pro1939=) c.1332A>T (p.Pro444=) n.6273A>T n.1106A>T c.6381A>T (p.Pro2127=) n.6087A>T c.6690A>T (p.Pro2230=) c.5883A>T (p.Pro1961=) c.2184A>T (p.Pro728=) c.6270A>T (p.Pro2090=) c.5634A>T (p.Pro1878=) c.2424A>T (p.Pro808=) | |
5 | g.177294059G>A | CA362324964 | NSD1 | c.5818G>A (p.Gly1940Arg) c.1333G>A (p.Gly445Arg) n.6274G>A n.1107G>A c.6382G>A (p.Gly2128Arg) n.6088G>A c.6691G>A (p.Gly2231Arg) c.5884G>A (p.Gly1962Arg) c.2185G>A (p.Gly729Arg) c.6271G>A (p.Gly2091Arg) c.5635G>A (p.Gly1879Arg) c.2425G>A (p.Gly809Arg) | gnomAD v4 |
5 | g.177294059G>C | CA362324966 | NSD1 | c.5818G>C (p.Gly1940Arg) c.1333G>C (p.Gly445Arg) n.6274G>C n.1107G>C c.6382G>C (p.Gly2128Arg) n.6088G>C c.6691G>C (p.Gly2231Arg) c.5884G>C (p.Gly1962Arg) c.2185G>C (p.Gly729Arg) c.6271G>C (p.Gly2091Arg) c.5635G>C (p.Gly1879Arg) c.2425G>C (p.Gly809Arg) | |
5 | g.177294059G>T | CA362324969 | NSD1 | c.5818G>T (p.Gly1940Trp) c.1333G>T (p.Gly445Trp) n.6274G>T n.1107G>T c.6382G>T (p.Gly2128Trp) n.6088G>T c.6691G>T (p.Gly2231Trp) c.5884G>T (p.Gly1962Trp) c.2185G>T (p.Gly729Trp) c.6271G>T (p.Gly2091Trp) c.5635G>T (p.Gly1879Trp) c.2425G>T (p.Gly809Trp) | |
5 | g.177294060G>A | CA362324974 | NSD1 | c.5819G>A (p.Gly1940Glu) c.1334G>A (p.Gly445Glu) n.6275G>A n.1108G>A c.6383G>A (p.Gly2128Glu) n.6089G>A c.6692G>A (p.Gly2231Glu) c.5885G>A (p.Gly1962Glu) c.2186G>A (p.Gly729Glu) c.6272G>A (p.Gly2091Glu) c.5636G>A (p.Gly1879Glu) c.2426G>A (p.Gly809Glu) | |
5 | g.177294060G>C | CA362324978 | NSD1 | c.5819G>C (p.Gly1940Ala) c.1334G>C (p.Gly445Ala) n.6275G>C n.1108G>C c.6383G>C (p.Gly2128Ala) n.6089G>C c.6692G>C (p.Gly2231Ala) c.5885G>C (p.Gly1962Ala) c.2186G>C (p.Gly729Ala) c.6272G>C (p.Gly2091Ala) c.5636G>C (p.Gly1879Ala) c.2426G>C (p.Gly809Ala) | |
5 | g.177294060G>T | CA362324981 | NSD1 | c.5819G>T (p.Gly1940Val) c.1334G>T (p.Gly445Val) n.6275G>T n.1108G>T c.6383G>T (p.Gly2128Val) n.6089G>T c.6692G>T (p.Gly2231Val) c.5885G>T (p.Gly1962Val) c.2186G>T (p.Gly729Val) c.6272G>T (p.Gly2091Val) c.5636G>T (p.Gly1879Val) c.2426G>T (p.Gly809Val) | |
5 | g.177294061G>A | CA447961691 | NSD1 | c.5820G>A (p.Gly1940=) c.1335G>A (p.Gly445=) n.6276G>A n.1109G>A c.6384G>A (p.Gly2128=) n.6090G>A c.6693G>A (p.Gly2231=) c.5886G>A (p.Gly1962=) c.2187G>A (p.Gly729=) c.6273G>A (p.Gly2091=) c.5637G>A (p.Gly1879=) c.2427G>A (p.Gly809=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294061G>C | CA447961692 | NSD1 | c.5820G>C (p.Gly1940=) c.1335G>C (p.Gly445=) n.6276G>C n.1109G>C c.6384G>C (p.Gly2128=) n.6090G>C c.6693G>C (p.Gly2231=) c.5886G>C (p.Gly1962=) c.2187G>C (p.Gly729=) c.6273G>C (p.Gly2091=) c.5637G>C (p.Gly1879=) c.2427G>C (p.Gly809=) | |
5 | g.177294061G= | CA1603535689 | NSD1 | c.5820G= (p.Gly1940=) c.1335G= (p.Gly445=) n.6276G= n.1109G= c.6384G= (p.Gly2128=) n.6090G= c.6693G= (p.Gly2231=) c.5886G= (p.Gly1962=) c.2187G= (p.Gly729=) c.6273G= (p.Gly2091=) c.5637G= (p.Gly1879=) c.2427G= (p.Gly809=) | |
5 | g.177294061G>T | CA447961693 | NSD1 | c.5820G>T (p.Gly1940=) c.1335G>T (p.Gly445=) n.6276G>T n.1109G>T c.6384G>T (p.Gly2128=) n.6090G>T c.6693G>T (p.Gly2231=) c.5886G>T (p.Gly1962=) c.2187G>T (p.Gly729=) c.6273G>T (p.Gly2091=) c.5637G>T (p.Gly1879=) c.2427G>T (p.Gly809=) | |
5 | g.177294062C>A | CA362324988 | NSD1 | c.5821C>A (p.Pro1941Thr) c.1336C>A (p.Pro446Thr) n.6277C>A n.1110C>A c.6385C>A (p.Pro2129Thr) n.6091C>A c.6694C>A (p.Pro2232Thr) c.5887C>A (p.Pro1963Thr) c.2188C>A (p.Pro730Thr) c.6274C>A (p.Pro2092Thr) c.5638C>A (p.Pro1880Thr) c.2428C>A (p.Pro810Thr) | dbSNP |
5 | g.177294062C>G | CA362324990 | NSD1 | c.5821C>G (p.Pro1941Ala) c.1336C>G (p.Pro446Ala) n.6277C>G n.1110C>G c.6385C>G (p.Pro2129Ala) n.6091C>G c.6694C>G (p.Pro2232Ala) c.5887C>G (p.Pro1963Ala) c.2188C>G (p.Pro730Ala) c.6274C>G (p.Pro2092Ala) c.5638C>G (p.Pro1880Ala) c.2428C>G (p.Pro810Ala) | |
5 | g.177294062C>T | CA362324997 | NSD1 | c.5821C>T (p.Pro1941Ser) c.1336C>T (p.Pro446Ser) n.6277C>T n.1110C>T c.6385C>T (p.Pro2129Ser) n.6091C>T c.6694C>T (p.Pro2232Ser) c.5887C>T (p.Pro1963Ser) c.2188C>T (p.Pro730Ser) c.6274C>T (p.Pro2092Ser) c.5638C>T (p.Pro1880Ser) c.2428C>T (p.Pro810Ser) | |
5 | g.177294063C>A | CA362325016 | NSD1 | c.5822C>A (p.Pro1941Gln) c.1337C>A (p.Pro446Gln) n.6278C>A n.1111C>A c.6386C>A (p.Pro2129Gln) n.6092C>A c.6695C>A (p.Pro2232Gln) c.5888C>A (p.Pro1963Gln) c.2189C>A (p.Pro730Gln) c.6275C>A (p.Pro2092Gln) c.5639C>A (p.Pro1880Gln) c.2429C>A (p.Pro810Gln) | |
5 | g.177294063C= | CA1603535691 | NSD1 | c.5822C= (p.Pro1941=) c.1337C= (p.Pro446=) n.6278C= n.1111C= c.6386C= (p.Pro2129=) n.6092C= c.6695C= (p.Pro2232=) c.5888C= (p.Pro1963=) c.2189C= (p.Pro730=) c.6275C= (p.Pro2092=) c.5639C= (p.Pro1880=) c.2429C= (p.Pro810=) | |
5 | g.177294063C>G | CA362325023 | NSD1 | c.5822C>G (p.Pro1941Arg) c.1337C>G (p.Pro446Arg) n.6278C>G n.1111C>G c.6386C>G (p.Pro2129Arg) n.6092C>G c.6695C>G (p.Pro2232Arg) c.5888C>G (p.Pro1963Arg) c.2189C>G (p.Pro730Arg) c.6275C>G (p.Pro2092Arg) c.5639C>G (p.Pro1880Arg) c.2429C>G (p.Pro810Arg) | |
5 | g.177294063C>T | CA362325004 | NSD1 | c.5822C>T (p.Pro1941Leu) c.1337C>T (p.Pro446Leu) n.6278C>T n.1111C>T c.6386C>T (p.Pro2129Leu) n.6092C>T c.6695C>T (p.Pro2232Leu) c.5888C>T (p.Pro1963Leu) c.2189C>T (p.Pro730Leu) c.6275C>T (p.Pro2092Leu) c.5639C>T (p.Pro1880Leu) c.2429C>T (p.Pro810Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294064A>C | CA447961699 | NSD1 | c.5823A>C (p.Pro1941=) c.1338A>C (p.Pro446=) n.6279A>C n.1112A>C c.6387A>C (p.Pro2129=) n.6093A>C c.6696A>C (p.Pro2232=) c.5889A>C (p.Pro1963=) c.2190A>C (p.Pro730=) c.6276A>C (p.Pro2092=) c.5640A>C (p.Pro1880=) c.2430A>C (p.Pro810=) | |
5 | g.177294064A>G | CA447961698 | NSD1 | c.5823A>G (p.Pro1941=) c.1338A>G (p.Pro446=) n.6279A>G n.1112A>G c.6387A>G (p.Pro2129=) n.6093A>G c.6696A>G (p.Pro2232=) c.5889A>G (p.Pro1963=) c.2190A>G (p.Pro730=) c.6276A>G (p.Pro2092=) c.5640A>G (p.Pro1880=) c.2430A>G (p.Pro810=) | gnomAD v4 |
5 | g.177294064A>T | CA447961697 | NSD1 | c.5823A>T (p.Pro1941=) c.1338A>T (p.Pro446=) n.6279A>T n.1112A>T c.6387A>T (p.Pro2129=) n.6093A>T c.6696A>T (p.Pro2232=) c.5889A>T (p.Pro1963=) c.2190A>T (p.Pro730=) c.6276A>T (p.Pro2092=) c.5640A>T (p.Pro1880=) c.2430A>T (p.Pro810=) | |
5 | g.177294065A= | CA1603535693 | NSD1 | c.5824A= (p.Ser1942=) c.1339A= (p.Ser447=) n.6280A= n.1113A= c.6388A= (p.Ser2130=) n.6094A= c.6697A= (p.Ser2233=) c.5890A= (p.Ser1964=) c.2191A= (p.Ser731=) c.6277A= (p.Ser2093=) c.5641A= (p.Ser1881=) c.2431A= (p.Ser811=) | |
5 | g.177294065A>C | CA362325027 | NSD1 | c.5824A>C (p.Ser1942Arg) c.1339A>C (p.Ser447Arg) n.6280A>C n.1113A>C c.6388A>C (p.Ser2130Arg) n.6094A>C c.6697A>C (p.Ser2233Arg) c.5890A>C (p.Ser1964Arg) c.2191A>C (p.Ser731Arg) c.6277A>C (p.Ser2093Arg) c.5641A>C (p.Ser1881Arg) c.2431A>C (p.Ser811Arg) | |
5 | g.177294065A>G | CA362325031 | NSD1 | c.5824A>G (p.Ser1942Gly) c.1339A>G (p.Ser447Gly) n.6280A>G n.1113A>G c.6388A>G (p.Ser2130Gly) n.6094A>G c.6697A>G (p.Ser2233Gly) c.5890A>G (p.Ser1964Gly) c.2191A>G (p.Ser731Gly) c.6277A>G (p.Ser2093Gly) c.5641A>G (p.Ser1881Gly) c.2431A>G (p.Ser811Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294065A>T | CA362325034 | NSD1 | c.5824A>T (p.Ser1942Cys) c.1339A>T (p.Ser447Cys) n.6280A>T n.1113A>T c.6388A>T (p.Ser2130Cys) n.6094A>T c.6697A>T (p.Ser2233Cys) c.5890A>T (p.Ser1964Cys) c.2191A>T (p.Ser731Cys) c.6277A>T (p.Ser2093Cys) c.5641A>T (p.Ser1881Cys) c.2431A>T (p.Ser811Cys) | |
5 | g.177294066G>A | CA362325037 | NSD1 | c.5825G>A (p.Ser1942Asn) c.1340G>A (p.Ser447Asn) n.6281G>A n.1114G>A c.6389G>A (p.Ser2130Asn) n.6095G>A c.6698G>A (p.Ser2233Asn) c.5891G>A (p.Ser1964Asn) c.2192G>A (p.Ser731Asn) c.6278G>A (p.Ser2093Asn) c.5642G>A (p.Ser1881Asn) c.2432G>A (p.Ser811Asn) | dbSNP |
5 | g.177294066G>C | CA362325038 | NSD1 | c.5825G>C (p.Ser1942Thr) c.1340G>C (p.Ser447Thr) n.6281G>C n.1114G>C c.6389G>C (p.Ser2130Thr) n.6095G>C c.6698G>C (p.Ser2233Thr) c.5891G>C (p.Ser1964Thr) c.2192G>C (p.Ser731Thr) c.6278G>C (p.Ser2093Thr) c.5642G>C (p.Ser1881Thr) c.2432G>C (p.Ser811Thr) | |
5 | g.177294066G>T | CA362325039 | NSD1 | c.5825G>T (p.Ser1942Ile) c.1340G>T (p.Ser447Ile) n.6281G>T n.1114G>T c.6389G>T (p.Ser2130Ile) n.6095G>T c.6698G>T (p.Ser2233Ile) c.5891G>T (p.Ser1964Ile) c.2192G>T (p.Ser731Ile) c.6278G>T (p.Ser2093Ile) c.5642G>T (p.Ser1881Ile) c.2432G>T (p.Ser811Ile) | |
5 | g.177294067C>A | CA362325049 | NSD1 | c.5826C>A (p.Ser1942Arg) c.1341C>A (p.Ser447Arg) n.6282C>A n.1115C>A c.6390C>A (p.Ser2130Arg) n.6096C>A c.6699C>A (p.Ser2233Arg) c.5892C>A (p.Ser1964Arg) c.2193C>A (p.Ser731Arg) c.6279C>A (p.Ser2093Arg) c.5643C>A (p.Ser1881Arg) c.2433C>A (p.Ser811Arg) | |
5 | g.177294067C= | CA1603535695 | NSD1 | c.5826C= (p.Ser1942=) c.1341C= (p.Ser447=) n.6282C= n.1115C= c.6390C= (p.Ser2130=) n.6096C= c.6699C= (p.Ser2233=) c.5892C= (p.Ser1964=) c.2193C= (p.Ser731=) c.6279C= (p.Ser2093=) c.5643C= (p.Ser1881=) c.2433C= (p.Ser811=) | |
5 | g.177294067C>G | CA3578030 | NSD1 | c.5826C>G (p.Ser1942Arg) c.1341C>G (p.Ser447Arg) n.6282C>G n.1115C>G c.6390C>G (p.Ser2130Arg) n.6096C>G c.6699C>G (p.Ser2233Arg) c.5892C>G (p.Ser1964Arg) c.2193C>G (p.Ser731Arg) c.6279C>G (p.Ser2093Arg) c.5643C>G (p.Ser1881Arg) c.2433C>G (p.Ser811Arg) | dbSNP ExAC gnomAD v2 |
5 | g.177294067C>T | CA3578029 | NSD1 | c.5826C>T (p.Ser1942=) c.1341C>T (p.Ser447=) n.6282C>T n.1115C>T c.6390C>T (p.Ser2130=) n.6096C>T c.6699C>T (p.Ser2233=) c.5892C>T (p.Ser1964=) c.2193C>T (p.Ser731=) c.6279C>T (p.Ser2093=) c.5643C>T (p.Ser1881=) c.2433C>T (p.Ser811=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294068A= | CA1603535698 | NSD1 | c.5827A= (p.Thr1943=) c.1342A= (p.Thr448=) n.6283A= n.1116A= c.6391A= (p.Thr2131=) n.6097A= c.6700A= (p.Thr2234=) c.5893A= (p.Thr1965=) c.2194A= (p.Thr732=) c.6280A= (p.Thr2094=) c.5644A= (p.Thr1882=) c.2434A= (p.Thr812=) | |
5 | g.177294068A>C | CA362325060 | NSD1 | c.5827A>C (p.Thr1943Pro) c.1342A>C (p.Thr448Pro) n.6283A>C n.1116A>C c.6391A>C (p.Thr2131Pro) n.6097A>C c.6700A>C (p.Thr2234Pro) c.5893A>C (p.Thr1965Pro) c.2194A>C (p.Thr732Pro) c.6280A>C (p.Thr2094Pro) c.5644A>C (p.Thr1882Pro) c.2434A>C (p.Thr812Pro) | |
5 | g.177294068A>G | CA3578031 | NSD1 | c.5827A>G (p.Thr1943Ala) c.1342A>G (p.Thr448Ala) n.6283A>G n.1116A>G c.6391A>G (p.Thr2131Ala) n.6097A>G c.6700A>G (p.Thr2234Ala) c.5893A>G (p.Thr1965Ala) c.2194A>G (p.Thr732Ala) c.6280A>G (p.Thr2094Ala) c.5644A>G (p.Thr1882Ala) c.2434A>G (p.Thr812Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294068A>T | CA362325068 | NSD1 | c.5827A>T (p.Thr1943Ser) c.1342A>T (p.Thr448Ser) n.6283A>T n.1116A>T c.6391A>T (p.Thr2131Ser) n.6097A>T c.6700A>T (p.Thr2234Ser) c.5893A>T (p.Thr1965Ser) c.2194A>T (p.Thr732Ser) c.6280A>T (p.Thr2094Ser) c.5644A>T (p.Thr1882Ser) c.2434A>T (p.Thr812Ser) | |
5 | g.177294069C>A | CA362325074 | NSD1 | c.5828C>A (p.Thr1943Asn) c.1343C>A (p.Thr448Asn) n.6284C>A n.1117C>A c.6392C>A (p.Thr2131Asn) n.6098C>A c.6701C>A (p.Thr2234Asn) c.5894C>A (p.Thr1965Asn) c.2195C>A (p.Thr732Asn) c.6281C>A (p.Thr2094Asn) c.5645C>A (p.Thr1882Asn) c.2435C>A (p.Thr812Asn) | |
5 | g.177294069C>G | CA362325079 | NSD1 | c.5828C>G (p.Thr1943Ser) c.1343C>G (p.Thr448Ser) n.6284C>G n.1117C>G c.6392C>G (p.Thr2131Ser) n.6098C>G c.6701C>G (p.Thr2234Ser) c.5894C>G (p.Thr1965Ser) c.2195C>G (p.Thr732Ser) c.6281C>G (p.Thr2094Ser) c.5645C>G (p.Thr1882Ser) c.2435C>G (p.Thr812Ser) | ClinVar gnomAD v4 |
5 | g.177294069C>T | CA362325085 | NSD1 | c.5828C>T (p.Thr1943Ile) c.1343C>T (p.Thr448Ile) n.6284C>T n.1117C>T c.6392C>T (p.Thr2131Ile) n.6098C>T c.6701C>T (p.Thr2234Ile) c.5894C>T (p.Thr1965Ile) c.2195C>T (p.Thr732Ile) c.6281C>T (p.Thr2094Ile) c.5645C>T (p.Thr1882Ile) c.2435C>T (p.Thr812Ile) | |
5 | g.177294070T>A | CA447961709 | NSD1 | c.5829T>A (p.Thr1943=) c.1344T>A (p.Thr448=) n.6285T>A n.1118T>A c.6393T>A (p.Thr2131=) n.6099T>A c.6702T>A (p.Thr2234=) c.5895T>A (p.Thr1965=) c.2196T>A (p.Thr732=) c.6282T>A (p.Thr2094=) c.5646T>A (p.Thr1882=) c.2436T>A (p.Thr812=) | dbSNP |
5 | g.177294070T>C | CA447961711 | NSD1 | c.5829T>C (p.Thr1943=) c.1344T>C (p.Thr448=) n.6285T>C n.1118T>C c.6393T>C (p.Thr2131=) n.6099T>C c.6702T>C (p.Thr2234=) c.5895T>C (p.Thr1965=) c.2196T>C (p.Thr732=) c.6282T>C (p.Thr2094=) c.5646T>C (p.Thr1882=) c.2436T>C (p.Thr812=) | |
5 | g.177294070T>G | CA447961710 | NSD1 | c.5829T>G (p.Thr1943=) c.1344T>G (p.Thr448=) n.6285T>G n.1118T>G c.6393T>G (p.Thr2131=) n.6099T>G c.6702T>G (p.Thr2234=) c.5895T>G (p.Thr1965=) c.2196T>G (p.Thr732=) c.6282T>G (p.Thr2094=) c.5646T>G (p.Thr1882=) c.2436T>G (p.Thr812=) | |
5 | g.177294071C>A | CA362325088 | NSD1 | c.5830C>A (p.His1944Asn) c.1345C>A (p.His449Asn) n.6286C>A n.1119C>A c.6394C>A (p.His2132Asn) n.6100C>A c.6703C>A (p.His2235Asn) c.5896C>A (p.His1966Asn) c.2197C>A (p.His733Asn) c.6283C>A (p.His2095Asn) c.5647C>A (p.His1883Asn) c.2437C>A (p.His813Asn) | |
5 | g.177294071C= | CA1603535701 | NSD1 | c.5830C= (p.His1944=) c.1345C= (p.His449=) n.6286C= n.1119C= c.6394C= (p.His2132=) n.6100C= c.6703C= (p.His2235=) c.5896C= (p.His1966=) c.2197C= (p.His733=) c.6283C= (p.His2095=) c.5647C= (p.His1883=) c.2437C= (p.His813=) | |
5 | g.177294071C>G | CA362325087 | NSD1 | c.5830C>G (p.His1944Asp) c.1345C>G (p.His449Asp) n.6286C>G n.1119C>G c.6394C>G (p.His2132Asp) n.6100C>G c.6703C>G (p.His2235Asp) c.5896C>G (p.His1966Asp) c.2197C>G (p.His733Asp) c.6283C>G (p.His2095Asp) c.5647C>G (p.His1883Asp) c.2437C>G (p.His813Asp) | |
5 | g.177294071C>T | CA362325086 | NSD1 | c.5830C>T (p.His1944Tyr) c.1345C>T (p.His449Tyr) n.6286C>T n.1119C>T c.6394C>T (p.His2132Tyr) n.6100C>T c.6703C>T (p.His2235Tyr) c.5896C>T (p.His1966Tyr) c.2197C>T (p.His733Tyr) c.6283C>T (p.His2095Tyr) c.5647C>T (p.His1883Tyr) c.2437C>T (p.His813Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294072A>C | CA362325093 | NSD1 | c.5831A>C (p.His1944Pro) c.1346A>C (p.His449Pro) n.6287A>C n.1120A>C c.6395A>C (p.His2132Pro) n.6101A>C c.6704A>C (p.His2235Pro) c.5897A>C (p.His1966Pro) c.2198A>C (p.His733Pro) c.6284A>C (p.His2095Pro) c.5648A>C (p.His1883Pro) c.2438A>C (p.His813Pro) | |
5 | g.177294072A>G | CA362325090 | NSD1 | c.5831A>G (p.His1944Arg) c.1346A>G (p.His449Arg) n.6287A>G n.1120A>G c.6395A>G (p.His2132Arg) n.6101A>G c.6704A>G (p.His2235Arg) c.5897A>G (p.His1966Arg) c.2198A>G (p.His733Arg) c.6284A>G (p.His2095Arg) c.5648A>G (p.His1883Arg) c.2438A>G (p.His813Arg) | |
5 | g.177294072A>T | CA362325098 | NSD1 | c.5831A>T (p.His1944Leu) c.1346A>T (p.His449Leu) n.6287A>T n.1120A>T c.6395A>T (p.His2132Leu) n.6101A>T c.6704A>T (p.His2235Leu) c.5897A>T (p.His1966Leu) c.2198A>T (p.His733Leu) c.6284A>T (p.His2095Leu) c.5648A>T (p.His1883Leu) c.2438A>T (p.His813Leu) | |
5 | g.177294073C>A | CA362325103 | NSD1 | c.5832C>A (p.His1944Gln) c.1347C>A (p.His449Gln) n.6288C>A n.1121C>A c.6396C>A (p.His2132Gln) n.6102C>A c.6705C>A (p.His2235Gln) c.5898C>A (p.His1966Gln) c.2199C>A (p.His733Gln) c.6285C>A (p.His2095Gln) c.5649C>A (p.His1883Gln) c.2439C>A (p.His813Gln) | dbSNP |
5 | g.177294073C= | CA1603535704 | NSD1 | c.5832C= (p.His1944=) c.1347C= (p.His449=) n.6288C= n.1121C= c.6396C= (p.His2132=) n.6102C= c.6705C= (p.His2235=) c.5898C= (p.His1966=) c.2199C= (p.His733=) c.6285C= (p.His2095=) c.5649C= (p.His1883=) c.2439C= (p.His813=) | |
5 | g.177294073C>G | CA362325106 | NSD1 | c.5832C>G (p.His1944Gln) c.1347C>G (p.His449Gln) n.6288C>G n.1121C>G c.6396C>G (p.His2132Gln) n.6102C>G c.6705C>G (p.His2235Gln) c.5898C>G (p.His1966Gln) c.2199C>G (p.His733Gln) c.6285C>G (p.His2095Gln) c.5649C>G (p.His1883Gln) c.2439C>G (p.His813Gln) | gnomAD v4 |
5 | g.177294073C>T | CA447961717 | NSD1 | c.5832C>T (p.His1944=) c.1347C>T (p.His449=) n.6288C>T n.1121C>T c.6396C>T (p.His2132=) n.6102C>T c.6705C>T (p.His2235=) c.5898C>T (p.His1966=) c.2199C>T (p.His733=) c.6285C>T (p.His2095=) c.5649C>T (p.His1883=) c.2439C>T (p.His813=) | dbSNP gnomAD v4 |
5 | g.177294074C>A | CA362325114 | NSD1 | c.5833C>A (p.Leu1945Met) c.1348C>A (p.Leu450Met) n.6289C>A n.1122C>A c.6397C>A (p.Leu2133Met) n.6103C>A c.6706C>A (p.Leu2236Met) c.5899C>A (p.Leu1967Met) c.2200C>A (p.Leu734Met) c.6286C>A (p.Leu2096Met) c.5650C>A (p.Leu1884Met) c.2440C>A (p.Leu814Met) | |
5 | g.177294074C>G | CA362325117 | NSD1 | c.5833C>G (p.Leu1945Val) c.1348C>G (p.Leu450Val) n.6289C>G n.1122C>G c.6397C>G (p.Leu2133Val) n.6103C>G c.6706C>G (p.Leu2236Val) c.5899C>G (p.Leu1967Val) c.2200C>G (p.Leu734Val) c.6286C>G (p.Leu2096Val) c.5650C>G (p.Leu1884Val) c.2440C>G (p.Leu814Val) | gnomAD v4 |
5 | g.177294074C>T | CA447961719 | NSD1 | c.5833C>T (p.Leu1945=) c.1348C>T (p.Leu450=) n.6289C>T n.1122C>T c.6397C>T (p.Leu2133=) n.6103C>T c.6706C>T (p.Leu2236=) c.5899C>T (p.Leu1967=) c.2200C>T (p.Leu734=) c.6286C>T (p.Leu2096=) c.5650C>T (p.Leu1884=) c.2440C>T (p.Leu814=) | |
5 | g.177294075T>A | CA362325120 | NSD1 | c.5834T>A (p.Leu1945Gln) c.1349T>A (p.Leu450Gln) n.6290T>A n.1123T>A c.6398T>A (p.Leu2133Gln) n.6104T>A c.6707T>A (p.Leu2236Gln) c.5900T>A (p.Leu1967Gln) c.2201T>A (p.Leu734Gln) c.6287T>A (p.Leu2096Gln) c.5651T>A (p.Leu1884Gln) c.2441T>A (p.Leu814Gln) | |
5 | g.177294075T>C | CA3578032 | NSD1 | c.5834T>C (p.Leu1945Pro) c.1349T>C (p.Leu450Pro) n.6290T>C n.1123T>C c.6398T>C (p.Leu2133Pro) n.6104T>C c.6707T>C (p.Leu2236Pro) c.5900T>C (p.Leu1967Pro) c.2201T>C (p.Leu734Pro) c.6287T>C (p.Leu2096Pro) c.5651T>C (p.Leu1884Pro) c.2441T>C (p.Leu814Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294075T>G | CA362325127 | NSD1 | c.5834T>G (p.Leu1945Arg) c.1349T>G (p.Leu450Arg) n.6290T>G n.1123T>G c.6398T>G (p.Leu2133Arg) n.6104T>G c.6707T>G (p.Leu2236Arg) c.5900T>G (p.Leu1967Arg) c.2201T>G (p.Leu734Arg) c.6287T>G (p.Leu2096Arg) c.5651T>G (p.Leu1884Arg) c.2441T>G (p.Leu814Arg) | |
5 | g.177294075T= | CA1603535706 | NSD1 | c.5834T= (p.Leu1945=) c.1349T= (p.Leu450=) n.6290T= n.1123T= c.6398T= (p.Leu2133=) n.6104T= c.6707T= (p.Leu2236=) c.5900T= (p.Leu1967=) c.2201T= (p.Leu734=) c.6287T= (p.Leu2096=) c.5651T= (p.Leu1884=) c.2441T= (p.Leu814=) | |
5 | g.177294076G>A | CA447961722 | NSD1 | c.5835G>A (p.Leu1945=) c.1350G>A (p.Leu450=) n.6291G>A n.1124G>A c.6399G>A (p.Leu2133=) n.6105G>A c.6708G>A (p.Leu2236=) c.5901G>A (p.Leu1967=) c.2202G>A (p.Leu734=) c.6288G>A (p.Leu2096=) c.5652G>A (p.Leu1884=) c.2442G>A (p.Leu814=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294076G>C | CA447961723 | NSD1 | c.5835G>C (p.Leu1945=) c.1350G>C (p.Leu450=) n.6291G>C n.1124G>C c.6399G>C (p.Leu2133=) n.6105G>C c.6708G>C (p.Leu2236=) c.5901G>C (p.Leu1967=) c.2202G>C (p.Leu734=) c.6288G>C (p.Leu2096=) c.5652G>C (p.Leu1884=) c.2442G>C (p.Leu814=) | dbSNP |
5 | g.177294076G= | CA1603535708 | NSD1 | c.5835G= (p.Leu1945=) c.1350G= (p.Leu450=) n.6291G= n.1124G= c.6399G= (p.Leu2133=) n.6105G= c.6708G= (p.Leu2236=) c.5901G= (p.Leu1967=) c.2202G= (p.Leu734=) c.6288G= (p.Leu2096=) c.5652G= (p.Leu1884=) c.2442G= (p.Leu814=) | |
5 | g.177294076G>T | CA447961724 | NSD1 | c.5835G>T (p.Leu1945=) c.1350G>T (p.Leu450=) n.6291G>T n.1124G>T c.6399G>T (p.Leu2133=) n.6105G>T c.6708G>T (p.Leu2236=) c.5901G>T (p.Leu1967=) c.2202G>T (p.Leu734=) c.6288G>T (p.Leu2096=) c.5652G>T (p.Leu1884=) c.2442G>T (p.Leu814=) | |
5 | g.177294077G>A | CA362325132 | NSD1 | c.5836G>A (p.Ala1946Thr) c.1351G>A (p.Ala451Thr) n.6292G>A n.1125G>A c.6400G>A (p.Ala2134Thr) n.6106G>A c.6709G>A (p.Ala2237Thr) c.5902G>A (p.Ala1968Thr) c.2203G>A (p.Ala735Thr) c.6289G>A (p.Ala2097Thr) c.5653G>A (p.Ala1885Thr) c.2443G>A (p.Ala815Thr) | |
5 | g.177294077G>C | CA362325135 | NSD1 | c.5836G>C (p.Ala1946Pro) c.1351G>C (p.Ala451Pro) n.6292G>C n.1125G>C c.6400G>C (p.Ala2134Pro) n.6106G>C c.6709G>C (p.Ala2237Pro) c.5902G>C (p.Ala1968Pro) c.2203G>C (p.Ala735Pro) c.6289G>C (p.Ala2097Pro) c.5653G>C (p.Ala1885Pro) c.2443G>C (p.Ala815Pro) | dbSNP |
5 | g.177294077G= | CA1603535710 | NSD1 | c.5836G= (p.Ala1946=) c.1351G= (p.Ala451=) n.6292G= n.1125G= c.6400G= (p.Ala2134=) n.6106G= c.6709G= (p.Ala2237=) c.5902G= (p.Ala1968=) c.2203G= (p.Ala735=) c.6289G= (p.Ala2097=) c.5653G= (p.Ala1885=) c.2443G= (p.Ala815=) | |
5 | g.177294077G>T | CA362325138 | NSD1 | c.5836G>T (p.Ala1946Ser) c.1351G>T (p.Ala451Ser) n.6292G>T n.1125G>T c.6400G>T (p.Ala2134Ser) n.6106G>T c.6709G>T (p.Ala2237Ser) c.5902G>T (p.Ala1968Ser) c.2203G>T (p.Ala735Ser) c.6289G>T (p.Ala2097Ser) c.5653G>T (p.Ala1885Ser) c.2443G>T (p.Ala815Ser) | |
5 | g.177294078C>A | CA362325143 | NSD1 | c.5837C>A (p.Ala1946Glu) c.1352C>A (p.Ala451Glu) n.6293C>A n.1126C>A c.6401C>A (p.Ala2134Glu) n.6107C>A c.6710C>A (p.Ala2237Glu) c.5903C>A (p.Ala1968Glu) c.2204C>A (p.Ala735Glu) c.6290C>A (p.Ala2097Glu) c.5654C>A (p.Ala1885Glu) c.2444C>A (p.Ala815Glu) | dbSNP gnomAD v4 |
5 | g.177294078C>G | CA362325147 | NSD1 | c.5837C>G (p.Ala1946Gly) c.1352C>G (p.Ala451Gly) n.6293C>G n.1126C>G c.6401C>G (p.Ala2134Gly) n.6107C>G c.6710C>G (p.Ala2237Gly) c.5903C>G (p.Ala1968Gly) c.2204C>G (p.Ala735Gly) c.6290C>G (p.Ala2097Gly) c.5654C>G (p.Ala1885Gly) c.2444C>G (p.Ala815Gly) | |
5 | g.177294078C>T | CA362325150 | NSD1 | c.5837C>T (p.Ala1946Val) c.1352C>T (p.Ala451Val) n.6293C>T n.1126C>T c.6401C>T (p.Ala2134Val) n.6107C>T c.6710C>T (p.Ala2237Val) c.5903C>T (p.Ala1968Val) c.2204C>T (p.Ala735Val) c.6290C>T (p.Ala2097Val) c.5654C>T (p.Ala1885Val) c.2444C>T (p.Ala815Val) | dbSNP gnomAD v4 |
5 | g.177294079A>C | CA447961726 | NSD1 | c.5838A>C (p.Ala1946=) c.1353A>C (p.Ala451=) n.6294A>C n.1127A>C c.6402A>C (p.Ala2134=) n.6108A>C c.6711A>C (p.Ala2237=) c.5904A>C (p.Ala1968=) c.2205A>C (p.Ala735=) c.6291A>C (p.Ala2097=) c.5655A>C (p.Ala1885=) c.2445A>C (p.Ala815=) | |
5 | g.177294079A>G | CA447961727 | NSD1 | c.5838A>G (p.Ala1946=) c.1353A>G (p.Ala451=) n.6294A>G n.1127A>G c.6402A>G (p.Ala2134=) n.6108A>G c.6711A>G (p.Ala2237=) c.5904A>G (p.Ala1968=) c.2205A>G (p.Ala735=) c.6291A>G (p.Ala2097=) c.5655A>G (p.Ala1885=) c.2445A>G (p.Ala815=) | |
5 | g.177294079A>T | CA447961725 | NSD1 | c.5838A>T (p.Ala1946=) c.1353A>T (p.Ala451=) n.6294A>T n.1127A>T c.6402A>T (p.Ala2134=) n.6108A>T c.6711A>T (p.Ala2237=) c.5904A>T (p.Ala1968=) c.2205A>T (p.Ala735=) c.6291A>T (p.Ala2097=) c.5655A>T (p.Ala1885=) c.2445A>T (p.Ala815=) | |
5 | g.177294080G>A | CA362325159 | NSD1 | c.5839G>A (p.Glu1947Lys) c.1354G>A (p.Glu452Lys) n.6295G>A n.1128G>A c.6403G>A (p.Glu2135Lys) n.6109G>A c.6712G>A (p.Glu2238Lys) c.5905G>A (p.Glu1969Lys) c.2206G>A (p.Glu736Lys) c.6292G>A (p.Glu2098Lys) c.5656G>A (p.Glu1886Lys) c.2446G>A (p.Glu816Lys) | |
5 | g.177294080G>C | CA3578033 | NSD1 | c.5839G>C (p.Glu1947Gln) c.1354G>C (p.Glu452Gln) n.6295G>C n.1128G>C c.6403G>C (p.Glu2135Gln) n.6109G>C c.6712G>C (p.Glu2238Gln) c.5905G>C (p.Glu1969Gln) c.2206G>C (p.Glu736Gln) c.6292G>C (p.Glu2098Gln) c.5656G>C (p.Glu1886Gln) c.2446G>C (p.Glu816Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294080G= | CA1603535712 | NSD1 | c.5839G= (p.Glu1947=) c.1354G= (p.Glu452=) n.6295G= n.1128G= c.6403G= (p.Glu2135=) n.6109G= c.6712G= (p.Glu2238=) c.5905G= (p.Glu1969=) c.2206G= (p.Glu736=) c.6292G= (p.Glu2098=) c.5656G= (p.Glu1886=) c.2446G= (p.Glu816=) | |
5 | g.177294080G>T | CA362325154 | NSD1 | c.5839G>T (p.Glu1947Ter) c.1354G>T (p.Glu452Ter) n.6295G>T n.1128G>T c.6403G>T (p.Glu2135Ter) n.6109G>T c.6712G>T (p.Glu2238Ter) c.5905G>T (p.Glu1969Ter) c.2206G>T (p.Glu736Ter) c.6292G>T (p.Glu2098Ter) c.5656G>T (p.Glu1886Ter) c.2446G>T (p.Glu816Ter) | |
5 | g.177294081A>C | CA362325162 | NSD1 | c.5840A>C (p.Glu1947Ala) c.1355A>C (p.Glu452Ala) n.6296A>C n.1129A>C c.6404A>C (p.Glu2135Ala) n.6110A>C c.6713A>C (p.Glu2238Ala) c.5906A>C (p.Glu1969Ala) c.2207A>C (p.Glu736Ala) c.6293A>C (p.Glu2098Ala) c.5657A>C (p.Glu1886Ala) c.2447A>C (p.Glu816Ala) | |
5 | g.177294081A>G | CA362325169 | NSD1 | c.5840A>G (p.Glu1947Gly) c.1355A>G (p.Glu452Gly) n.6296A>G n.1129A>G c.6404A>G (p.Glu2135Gly) n.6110A>G c.6713A>G (p.Glu2238Gly) c.5906A>G (p.Glu1969Gly) c.2207A>G (p.Glu736Gly) c.6293A>G (p.Glu2098Gly) c.5657A>G (p.Glu1886Gly) c.2447A>G (p.Glu816Gly) | |
5 | g.177294081A>T | CA362325172 | NSD1 | c.5840A>T (p.Glu1947Val) c.1355A>T (p.Glu452Val) n.6296A>T n.1129A>T c.6404A>T (p.Glu2135Val) n.6110A>T c.6713A>T (p.Glu2238Val) c.5906A>T (p.Glu1969Val) c.2207A>T (p.Glu736Val) c.6293A>T (p.Glu2098Val) c.5657A>T (p.Glu1886Val) c.2447A>T (p.Glu816Val) | |
5 | g.177294082G>A | CA447961735 | NSD1 | c.5841G>A (p.Glu1947=) c.1356G>A (p.Glu452=) n.6297G>A n.1130G>A c.6405G>A (p.Glu2135=) n.6111G>A c.6714G>A (p.Glu2238=) c.5907G>A (p.Glu1969=) c.2208G>A (p.Glu736=) c.6294G>A (p.Glu2098=) c.5658G>A (p.Glu1886=) c.2448G>A (p.Glu816=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294082G>C | CA362325177 | NSD1 | c.5841G>C (p.Glu1947Asp) c.1356G>C (p.Glu452Asp) n.6297G>C n.1130G>C c.6405G>C (p.Glu2135Asp) n.6111G>C c.6714G>C (p.Glu2238Asp) c.5907G>C (p.Glu1969Asp) c.2208G>C (p.Glu736Asp) c.6294G>C (p.Glu2098Asp) c.5658G>C (p.Glu1886Asp) c.2448G>C (p.Glu816Asp) | |
5 | g.177294082G= | CA1603535714 | NSD1 | c.5841G= (p.Glu1947=) c.1356G= (p.Glu452=) n.6297G= n.1130G= c.6405G= (p.Glu2135=) n.6111G= c.6714G= (p.Glu2238=) c.5907G= (p.Glu1969=) c.2208G= (p.Glu736=) c.6294G= (p.Glu2098=) c.5658G= (p.Glu1886=) c.2448G= (p.Glu816=) | |
5 | g.177294082G>T | CA362325180 | NSD1 | c.5841G>T (p.Glu1947Asp) c.1356G>T (p.Glu452Asp) n.6297G>T n.1130G>T c.6405G>T (p.Glu2135Asp) n.6111G>T c.6714G>T (p.Glu2238Asp) c.5907G>T (p.Glu1969Asp) c.2208G>T (p.Glu736Asp) c.6294G>T (p.Glu2098Asp) c.5658G>T (p.Glu1886Asp) c.2448G>T (p.Glu816Asp) | |
5 | g.177294083C>A | CA362325185 | NSD1 | c.5842C>A (p.Gln1948Lys) c.1357C>A (p.Gln453Lys) n.6298C>A n.1131C>A c.6406C>A (p.Gln2136Lys) n.6112C>A c.6715C>A (p.Gln2239Lys) c.5908C>A (p.Gln1970Lys) c.2209C>A (p.Gln737Lys) c.6295C>A (p.Gln2099Lys) c.5659C>A (p.Gln1887Lys) c.2449C>A (p.Gln817Lys) | |
5 | g.177294083C>G | CA362325188 | NSD1 | c.5842C>G (p.Gln1948Glu) c.1357C>G (p.Gln453Glu) n.6298C>G n.1131C>G c.6406C>G (p.Gln2136Glu) n.6112C>G c.6715C>G (p.Gln2239Glu) c.5908C>G (p.Gln1970Glu) c.2209C>G (p.Gln737Glu) c.6295C>G (p.Gln2099Glu) c.5659C>G (p.Gln1887Glu) c.2449C>G (p.Gln817Glu) | |
5 | g.177294083C>T | CA362325197 | NSD1 | c.5842C>T (p.Gln1948Ter) c.1357C>T (p.Gln453Ter) n.6298C>T n.1131C>T c.6406C>T (p.Gln2136Ter) n.6112C>T c.6715C>T (p.Gln2239Ter) c.5908C>T (p.Gln1970Ter) c.2209C>T (p.Gln737Ter) c.6295C>T (p.Gln2099Ter) c.5659C>T (p.Gln1887Ter) c.2449C>T (p.Gln817Ter) | dbSNP |
5 | g.177294084A>C | CA362325201 | NSD1 | c.5843A>C (p.Gln1948Pro) c.1358A>C (p.Gln453Pro) n.6299A>C n.1132A>C c.6407A>C (p.Gln2136Pro) n.6113A>C c.6716A>C (p.Gln2239Pro) c.5909A>C (p.Gln1970Pro) c.2210A>C (p.Gln737Pro) c.6296A>C (p.Gln2099Pro) c.5660A>C (p.Gln1887Pro) c.2450A>C (p.Gln817Pro) | |
5 | g.177294084A>G | CA362325204 | NSD1 | c.5843A>G (p.Gln1948Arg) c.1358A>G (p.Gln453Arg) n.6299A>G n.1132A>G c.6407A>G (p.Gln2136Arg) n.6113A>G c.6716A>G (p.Gln2239Arg) c.5909A>G (p.Gln1970Arg) c.2210A>G (p.Gln737Arg) c.6296A>G (p.Gln2099Arg) c.5660A>G (p.Gln1887Arg) c.2450A>G (p.Gln817Arg) | |
5 | g.177294084A>T | CA362325209 | NSD1 | c.5843A>T (p.Gln1948Leu) c.1358A>T (p.Gln453Leu) n.6299A>T n.1132A>T c.6407A>T (p.Gln2136Leu) n.6113A>T c.6716A>T (p.Gln2239Leu) c.5909A>T (p.Gln1970Leu) c.2210A>T (p.Gln737Leu) c.6296A>T (p.Gln2099Leu) c.5660A>T (p.Gln1887Leu) c.2450A>T (p.Gln817Leu) | gnomAD v4 |
5 | g.177294085A= | CA1603535718 | NSD1 | c.5844A= (p.Gln1948=) c.1359A= (p.Gln453=) n.6300A= n.1133A= c.6408A= (p.Gln2136=) n.6114A= c.6717A= (p.Gln2239=) c.5910A= (p.Gln1970=) c.2211A= (p.Gln737=) c.6297A= (p.Gln2099=) c.5661A= (p.Gln1887=) c.2451A= (p.Gln817=) | |
5 | g.177294085A>C | CA362325213 | NSD1 | c.5844A>C (p.Gln1948His) c.1359A>C (p.Gln453His) n.6300A>C n.1133A>C c.6408A>C (p.Gln2136His) n.6114A>C c.6717A>C (p.Gln2239His) c.5910A>C (p.Gln1970His) c.2211A>C (p.Gln737His) c.6297A>C (p.Gln2099His) c.5661A>C (p.Gln1887His) c.2451A>C (p.Gln817His) | dbSNP |
5 | g.177294085A>G | CA447961738 | NSD1 | c.5844A>G (p.Gln1948=) c.1359A>G (p.Gln453=) n.6300A>G n.1133A>G c.6408A>G (p.Gln2136=) n.6114A>G c.6717A>G (p.Gln2239=) c.5910A>G (p.Gln1970=) c.2211A>G (p.Gln737=) c.6297A>G (p.Gln2099=) c.5661A>G (p.Gln1887=) c.2451A>G (p.Gln817=) | |
5 | g.177294085A>T | CA132862559 | NSD1 | c.5844A>T (p.Gln1948His) c.1359A>T (p.Gln453His) n.6300A>T n.1133A>T c.6408A>T (p.Gln2136His) n.6114A>T c.6717A>T (p.Gln2239His) c.5910A>T (p.Gln1970His) c.2211A>T (p.Gln737His) c.6297A>T (p.Gln2099His) c.5661A>T (p.Gln1887His) c.2451A>T (p.Gln817His) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294086T>A | CA362325230 | NSD1 | c.5845T>A (p.Ser1949Thr) c.1360T>A (p.Ser454Thr) n.6301T>A n.1134T>A c.6409T>A (p.Ser2137Thr) n.6115T>A c.6718T>A (p.Ser2240Thr) c.5911T>A (p.Ser1971Thr) c.2212T>A (p.Ser738Thr) c.6298T>A (p.Ser2100Thr) c.5662T>A (p.Ser1888Thr) c.2452T>A (p.Ser818Thr) | |
5 | g.177294086T>C | CA362325233 | NSD1 | c.5845T>C (p.Ser1949Pro) c.1360T>C (p.Ser454Pro) n.6301T>C n.1134T>C c.6409T>C (p.Ser2137Pro) n.6115T>C c.6718T>C (p.Ser2240Pro) c.5911T>C (p.Ser1971Pro) c.2212T>C (p.Ser738Pro) c.6298T>C (p.Ser2100Pro) c.5662T>C (p.Ser1888Pro) c.2452T>C (p.Ser818Pro) | |
5 | g.177294086T>G | CA362325223 | NSD1 | c.5845T>G (p.Ser1949Ala) c.1360T>G (p.Ser454Ala) n.6301T>G n.1134T>G c.6409T>G (p.Ser2137Ala) n.6115T>G c.6718T>G (p.Ser2240Ala) c.5911T>G (p.Ser1971Ala) c.2212T>G (p.Ser738Ala) c.6298T>G (p.Ser2100Ala) c.5662T>G (p.Ser1888Ala) c.2452T>G (p.Ser818Ala) | |
5 | g.177294087C>A | CA362325238 | NSD1 | c.5846C>A (p.Ser1949Ter) c.1361C>A (p.Ser454Ter) n.6302C>A n.1135C>A c.6410C>A (p.Ser2137Ter) n.6116C>A c.6719C>A (p.Ser2240Ter) c.5912C>A (p.Ser1971Ter) c.2213C>A (p.Ser738Ter) c.6299C>A (p.Ser2100Ter) c.5663C>A (p.Ser1888Ter) c.2453C>A (p.Ser818Ter) | COSMIC COSMIC |
5 | g.177294087C= | CA1603535721 | NSD1 | c.5846C= (p.Ser1949=) c.1361C= (p.Ser454=) n.6302C= n.1135C= c.6410C= (p.Ser2137=) n.6116C= c.6719C= (p.Ser2240=) c.5912C= (p.Ser1971=) c.2213C= (p.Ser738=) c.6299C= (p.Ser2100=) c.5663C= (p.Ser1888=) c.2453C= (p.Ser818=) | |
5 | g.177294087C>G | CA362325241 | NSD1 | c.5846C>G (p.Ser1949Ter) c.1361C>G (p.Ser454Ter) n.6302C>G n.1135C>G c.6410C>G (p.Ser2137Ter) n.6116C>G c.6719C>G (p.Ser2240Ter) c.5912C>G (p.Ser1971Ter) c.2213C>G (p.Ser738Ter) c.6299C>G (p.Ser2100Ter) c.5663C>G (p.Ser1888Ter) c.2453C>G (p.Ser818Ter) | |
5 | g.177294087C>T | CA362325244 | NSD1 | c.5846C>T (p.Ser1949Leu) c.1361C>T (p.Ser454Leu) n.6302C>T n.1135C>T c.6410C>T (p.Ser2137Leu) n.6116C>T c.6719C>T (p.Ser2240Leu) c.5912C>T (p.Ser1971Leu) c.2213C>T (p.Ser738Leu) c.6299C>T (p.Ser2100Leu) c.5663C>T (p.Ser1888Leu) c.2453C>T (p.Ser818Leu) | dbSNP gnomAD v4 |
5 | g.177294088A>C | CA447961742 | NSD1 | c.5847A>C (p.Ser1949=) c.1362A>C (p.Ser454=) n.6303A>C n.1136A>C c.6411A>C (p.Ser2137=) n.6117A>C c.6720A>C (p.Ser2240=) c.5913A>C (p.Ser1971=) c.2214A>C (p.Ser738=) c.6300A>C (p.Ser2100=) c.5664A>C (p.Ser1888=) c.2454A>C (p.Ser818=) | |
5 | g.177294088A>G | CA447961743 | NSD1 | c.5847A>G (p.Ser1949=) c.1362A>G (p.Ser454=) n.6303A>G n.1136A>G c.6411A>G (p.Ser2137=) n.6117A>G c.6720A>G (p.Ser2240=) c.5913A>G (p.Ser1971=) c.2214A>G (p.Ser738=) c.6300A>G (p.Ser2100=) c.5664A>G (p.Ser1888=) c.2454A>G (p.Ser818=) | |
5 | g.177294088A>T | CA447961744 | NSD1 | c.5847A>T (p.Ser1949=) c.1362A>T (p.Ser454=) n.6303A>T n.1136A>T c.6411A>T (p.Ser2137=) n.6117A>T c.6720A>T (p.Ser2240=) c.5913A>T (p.Ser1971=) c.2214A>T (p.Ser738=) c.6300A>T (p.Ser2100=) c.5664A>T (p.Ser1888=) c.2454A>T (p.Ser818=) | |
5 | g.177294089A>C | CA362325248 | NSD1 | c.5848A>C (p.Thr1950Pro) c.1363A>C (p.Thr455Pro) n.6304A>C n.1137A>C c.6412A>C (p.Thr2138Pro) n.6118A>C c.6721A>C (p.Thr2241Pro) c.5914A>C (p.Thr1972Pro) c.2215A>C (p.Thr739Pro) c.6301A>C (p.Thr2101Pro) c.5665A>C (p.Thr1889Pro) c.2455A>C (p.Thr819Pro) | |
5 | g.177294089A>G | CA362325251 | NSD1 | c.5848A>G (p.Thr1950Ala) c.1363A>G (p.Thr455Ala) n.6304A>G n.1137A>G c.6412A>G (p.Thr2138Ala) n.6118A>G c.6721A>G (p.Thr2241Ala) c.5914A>G (p.Thr1972Ala) c.2215A>G (p.Thr739Ala) c.6301A>G (p.Thr2101Ala) c.5665A>G (p.Thr1889Ala) c.2455A>G (p.Thr819Ala) | |
5 | g.177294089A>T | CA362325253 | NSD1 | c.5848A>T (p.Thr1950Ser) c.1363A>T (p.Thr455Ser) n.6304A>T n.1137A>T c.6412A>T (p.Thr2138Ser) n.6118A>T c.6721A>T (p.Thr2241Ser) c.5914A>T (p.Thr1972Ser) c.2215A>T (p.Thr739Ser) c.6301A>T (p.Thr2101Ser) c.5665A>T (p.Thr1889Ser) c.2455A>T (p.Thr819Ser) | |
5 | g.177294090C>A | CA362325257 | NSD1 | c.5849C>A (p.Thr1950Lys) c.1364C>A (p.Thr455Lys) n.6305C>A n.1138C>A c.6413C>A (p.Thr2138Lys) n.6119C>A c.6722C>A (p.Thr2241Lys) c.5915C>A (p.Thr1972Lys) c.2216C>A (p.Thr739Lys) c.6302C>A (p.Thr2101Lys) c.5666C>A (p.Thr1889Lys) c.2456C>A (p.Thr819Lys) | |
5 | g.177294090C= | CA1603535724 | NSD1 | c.5849C= (p.Thr1950=) c.1364C= (p.Thr455=) n.6305C= n.1138C= c.6413C= (p.Thr2138=) n.6119C= c.6722C= (p.Thr2241=) c.5915C= (p.Thr1972=) c.2216C= (p.Thr739=) c.6302C= (p.Thr2101=) c.5666C= (p.Thr1889=) c.2456C= (p.Thr819=) | |
5 | g.177294090C>G | CA362325263 | NSD1 | c.5849C>G (p.Thr1950Arg) c.1364C>G (p.Thr455Arg) n.6305C>G n.1138C>G c.6413C>G (p.Thr2138Arg) n.6119C>G c.6722C>G (p.Thr2241Arg) c.5915C>G (p.Thr1972Arg) c.2216C>G (p.Thr739Arg) c.6302C>G (p.Thr2101Arg) c.5666C>G (p.Thr1889Arg) c.2456C>G (p.Thr819Arg) | |
5 | g.177294090C>T | CA362325265 | NSD1 | c.5849C>T (p.Thr1950Ile) c.1364C>T (p.Thr455Ile) n.6305C>T n.1138C>T c.6413C>T (p.Thr2138Ile) n.6119C>T c.6722C>T (p.Thr2241Ile) c.5915C>T (p.Thr1972Ile) c.2216C>T (p.Thr739Ile) c.6302C>T (p.Thr2101Ile) c.5666C>T (p.Thr1889Ile) c.2456C>T (p.Thr819Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294091A>C | CA447961749 | NSD1 | c.5850A>C (p.Thr1950=) c.1365A>C (p.Thr455=) n.6306A>C n.1139A>C c.6414A>C (p.Thr2138=) n.6120A>C c.6723A>C (p.Thr2241=) c.5916A>C (p.Thr1972=) c.2217A>C (p.Thr739=) c.6303A>C (p.Thr2101=) c.5667A>C (p.Thr1889=) c.2457A>C (p.Thr819=) | |
5 | g.177294091A>G | CA447961751 | NSD1 | c.5850A>G (p.Thr1950=) c.1365A>G (p.Thr455=) n.6306A>G n.1139A>G c.6414A>G (p.Thr2138=) n.6120A>G c.6723A>G (p.Thr2241=) c.5916A>G (p.Thr1972=) c.2217A>G (p.Thr739=) c.6303A>G (p.Thr2101=) c.5667A>G (p.Thr1889=) c.2457A>G (p.Thr819=) | |
5 | g.177294091A>T | CA447961750 | NSD1 | c.5850A>T (p.Thr1950=) c.1365A>T (p.Thr455=) n.6306A>T n.1139A>T c.6414A>T (p.Thr2138=) n.6120A>T c.6723A>T (p.Thr2241=) c.5916A>T (p.Thr1972=) c.2217A>T (p.Thr739=) c.6303A>T (p.Thr2101=) c.5667A>T (p.Thr1889=) c.2457A>T (p.Thr819=) | |
5 | g.177294092G>A | CA362325271 | NSD1 | c.5851G>A (p.Gly1951Arg) c.1366G>A (p.Gly456Arg) n.6307G>A n.1140G>A c.6415G>A (p.Gly2139Arg) n.6121G>A c.6724G>A (p.Gly2242Arg) c.5917G>A (p.Gly1973Arg) c.2218G>A (p.Gly740Arg) c.6304G>A (p.Gly2102Arg) c.5668G>A (p.Gly1890Arg) c.2458G>A (p.Gly820Arg) | |
5 | g.177294092G>C | CA362325275 | NSD1 | c.5851G>C (p.Gly1951Arg) c.1366G>C (p.Gly456Arg) n.6307G>C n.1140G>C c.6415G>C (p.Gly2139Arg) n.6121G>C c.6724G>C (p.Gly2242Arg) c.5917G>C (p.Gly1973Arg) c.2218G>C (p.Gly740Arg) c.6304G>C (p.Gly2102Arg) c.5668G>C (p.Gly1890Arg) c.2458G>C (p.Gly820Arg) | |
5 | g.177294092G>T | CA362325278 | NSD1 | c.5851G>T (p.Gly1951Ter) c.1366G>T (p.Gly456Ter) n.6307G>T n.1140G>T c.6415G>T (p.Gly2139Ter) n.6121G>T c.6724G>T (p.Gly2242Ter) c.5917G>T (p.Gly1973Ter) c.2218G>T (p.Gly740Ter) c.6304G>T (p.Gly2102Ter) c.5668G>T (p.Gly1890Ter) c.2458G>T (p.Gly820Ter) | |
5 | g.177294093G>A | CA362325292 | NSD1 | c.5852G>A (p.Gly1951Glu) c.1367G>A (p.Gly456Glu) n.6308G>A n.1141G>A c.6416G>A (p.Gly2139Glu) n.6122G>A c.6725G>A (p.Gly2242Glu) c.5918G>A (p.Gly1973Glu) c.2219G>A (p.Gly740Glu) c.6305G>A (p.Gly2102Glu) c.5669G>A (p.Gly1890Glu) c.2459G>A (p.Gly820Glu) | |
5 | g.177294093G>C | CA362325283 | NSD1 | c.5852G>C (p.Gly1951Ala) c.1367G>C (p.Gly456Ala) n.6308G>C n.1141G>C c.6416G>C (p.Gly2139Ala) n.6122G>C c.6725G>C (p.Gly2242Ala) c.5918G>C (p.Gly1973Ala) c.2219G>C (p.Gly740Ala) c.6305G>C (p.Gly2102Ala) c.5669G>C (p.Gly1890Ala) c.2459G>C (p.Gly820Ala) | |
5 | g.177294093G>T | CA362325289 | NSD1 | c.5852G>T (p.Gly1951Val) c.1367G>T (p.Gly456Val) n.6308G>T n.1141G>T c.6416G>T (p.Gly2139Val) n.6122G>T c.6725G>T (p.Gly2242Val) c.5918G>T (p.Gly1973Val) c.2219G>T (p.Gly740Val) c.6305G>T (p.Gly2102Val) c.5669G>T (p.Gly1890Val) c.2459G>T (p.Gly820Val) | gnomAD v4 |
5 | g.177294094A>C | CA447961757 | NSD1 | c.5853A>C (p.Gly1951=) c.1368A>C (p.Gly456=) n.6309A>C n.1142A>C c.6417A>C (p.Gly2139=) n.6123A>C c.6726A>C (p.Gly2242=) c.5919A>C (p.Gly1973=) c.2220A>C (p.Gly740=) c.6306A>C (p.Gly2102=) c.5670A>C (p.Gly1890=) c.2460A>C (p.Gly820=) | |
5 | g.177294094A>G | CA447961758 | NSD1 | c.5853A>G (p.Gly1951=) c.1368A>G (p.Gly456=) n.6309A>G n.1142A>G c.6417A>G (p.Gly2139=) n.6123A>G c.6726A>G (p.Gly2242=) c.5919A>G (p.Gly1973=) c.2220A>G (p.Gly740=) c.6306A>G (p.Gly2102=) c.5670A>G (p.Gly1890=) c.2460A>G (p.Gly820=) | |
5 | g.177294094A>T | CA447961759 | NSD1 | c.5853A>T (p.Gly1951=) c.1368A>T (p.Gly456=) n.6309A>T n.1142A>T c.6417A>T (p.Gly2139=) n.6123A>T c.6726A>T (p.Gly2242=) c.5919A>T (p.Gly1973=) c.2220A>T (p.Gly740=) c.6306A>T (p.Gly2102=) c.5670A>T (p.Gly1890=) c.2460A>T (p.Gly820=) | |
5 | g.177294095A>C | CA362325297 | NSD1 | c.5854A>C (p.Met1952Leu) c.1369A>C (p.Met457Leu) n.6310A>C n.1143A>C c.6418A>C (p.Met2140Leu) n.6124A>C c.6727A>C (p.Met2243Leu) c.5920A>C (p.Met1974Leu) c.2221A>C (p.Met741Leu) c.6307A>C (p.Met2103Leu) c.5671A>C (p.Met1891Leu) c.2461A>C (p.Met821Leu) | |
5 | g.177294095A>G | CA362325300 | NSD1 | c.5854A>G (p.Met1952Val) c.1369A>G (p.Met457Val) n.6310A>G n.1143A>G c.6418A>G (p.Met2140Val) n.6124A>G c.6727A>G (p.Met2243Val) c.5920A>G (p.Met1974Val) c.2221A>G (p.Met741Val) c.6307A>G (p.Met2103Val) c.5671A>G (p.Met1891Val) c.2461A>G (p.Met821Val) | |
5 | g.177294095A>T | CA362325304 | NSD1 | c.5854A>T (p.Met1952Leu) c.1369A>T (p.Met457Leu) n.6310A>T n.1143A>T c.6418A>T (p.Met2140Leu) n.6124A>T c.6727A>T (p.Met2243Leu) c.5920A>T (p.Met1974Leu) c.2221A>T (p.Met741Leu) c.6307A>T (p.Met2103Leu) c.5671A>T (p.Met1891Leu) c.2461A>T (p.Met821Leu) | |
5 | g.177294096T>A | CA362325310 | NSD1 | c.5855T>A (p.Met1952Lys) c.1370T>A (p.Met457Lys) n.6311T>A n.1144T>A c.6419T>A (p.Met2140Lys) n.6125T>A c.6728T>A (p.Met2243Lys) c.5921T>A (p.Met1974Lys) c.2222T>A (p.Met741Lys) c.6308T>A (p.Met2103Lys) c.5672T>A (p.Met1891Lys) c.2462T>A (p.Met821Lys) | |
5 | g.177294096T>C | CA362325314 | NSD1 | c.5855T>C (p.Met1952Thr) c.1370T>C (p.Met457Thr) n.6311T>C n.1144T>C c.6419T>C (p.Met2140Thr) n.6125T>C c.6728T>C (p.Met2243Thr) c.5921T>C (p.Met1974Thr) c.2222T>C (p.Met741Thr) c.6308T>C (p.Met2103Thr) c.5672T>C (p.Met1891Thr) c.2462T>C (p.Met821Thr) | |
5 | g.177294096T>G | CA362325318 | NSD1 | c.5855T>G (p.Met1952Arg) c.1370T>G (p.Met457Arg) n.6311T>G n.1144T>G c.6419T>G (p.Met2140Arg) n.6125T>G c.6728T>G (p.Met2243Arg) c.5921T>G (p.Met1974Arg) c.2222T>G (p.Met741Arg) c.6308T>G (p.Met2103Arg) c.5672T>G (p.Met1891Arg) c.2462T>G (p.Met821Arg) | |
5 | g.177294097G>A | CA362325320 | NSD1 | c.5856G>A (p.Met1952Ile) c.1371G>A (p.Met457Ile) n.6312G>A n.1145G>A c.6420G>A (p.Met2140Ile) n.6126G>A c.6729G>A (p.Met2243Ile) c.5922G>A (p.Met1974Ile) c.2223G>A (p.Met741Ile) c.6309G>A (p.Met2103Ile) c.5673G>A (p.Met1891Ile) c.2463G>A (p.Met821Ile) | |
5 | g.177294097G>C | CA362325323 | NSD1 | c.5856G>C (p.Met1952Ile) c.1371G>C (p.Met457Ile) n.6312G>C n.1145G>C c.6420G>C (p.Met2140Ile) n.6126G>C c.6729G>C (p.Met2243Ile) c.5922G>C (p.Met1974Ile) c.2223G>C (p.Met741Ile) c.6309G>C (p.Met2103Ile) c.5673G>C (p.Met1891Ile) c.2463G>C (p.Met821Ile) | |
5 | g.177294097G>T | CA362325334 | NSD1 | c.5856G>T (p.Met1952Ile) c.1371G>T (p.Met457Ile) n.6312G>T n.1145G>T c.6420G>T (p.Met2140Ile) n.6126G>T c.6729G>T (p.Met2243Ile) c.5922G>T (p.Met1974Ile) c.2223G>T (p.Met741Ile) c.6309G>T (p.Met2103Ile) c.5673G>T (p.Met1891Ile) c.2463G>T (p.Met821Ile) | |
5 | g.177294098G>A | CA3578034 | NSD1 | c.5857G>A (p.Ala1953Thr) c.1372G>A (p.Ala458Thr) n.6313G>A n.1146G>A c.6421G>A (p.Ala2141Thr) n.6127G>A c.6730G>A (p.Ala2244Thr) c.5923G>A (p.Ala1975Thr) c.2224G>A (p.Ala742Thr) c.6310G>A (p.Ala2104Thr) c.5674G>A (p.Ala1892Thr) c.2464G>A (p.Ala822Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294098G>C | CA362325343 | NSD1 | c.5857G>C (p.Ala1953Pro) c.1372G>C (p.Ala458Pro) n.6313G>C n.1146G>C c.6421G>C (p.Ala2141Pro) n.6127G>C c.6730G>C (p.Ala2244Pro) c.5923G>C (p.Ala1975Pro) c.2224G>C (p.Ala742Pro) c.6310G>C (p.Ala2104Pro) c.5674G>C (p.Ala1892Pro) c.2464G>C (p.Ala822Pro) | |
5 | g.177294098G= | CA1603535727 | NSD1 | c.5857G= (p.Ala1953=) c.1372G= (p.Ala458=) n.6313G= n.1146G= c.6421G= (p.Ala2141=) n.6127G= c.6730G= (p.Ala2244=) c.5923G= (p.Ala1975=) c.2224G= (p.Ala742=) c.6310G= (p.Ala2104=) c.5674G= (p.Ala1892=) c.2464G= (p.Ala822=) | |
5 | g.177294098G>T | CA362325346 | NSD1 | c.5857G>T (p.Ala1953Ser) c.1372G>T (p.Ala458Ser) n.6313G>T n.1146G>T c.6421G>T (p.Ala2141Ser) n.6127G>T c.6730G>T (p.Ala2244Ser) c.5923G>T (p.Ala1975Ser) c.2224G>T (p.Ala742Ser) c.6310G>T (p.Ala2104Ser) c.5674G>T (p.Ala1892Ser) c.2464G>T (p.Ala822Ser) | |
5 | g.177294101_177294103del | CA2676692108 | NSD1 | c.5860_5862del (p.Ala1954del) c.1375_1377del (p.Ala459del) n.6316_6318del n.1149_1151del c.6424_6426del (p.Ala2142del) n.6130_6132del c.6733_6735del (p.Ala2245del) c.5926_5928del (p.Ala1976del) c.2227_2229del (p.Ala743del) c.6313_6315del (p.Ala2105del) c.5677_5679del (p.Ala1893del) c.2467_2469del (p.Ala823del) | gnomAD v4 |
5 | g.177294099C>A | CA362325357 | NSD1 | c.5858C>A (p.Ala1953Asp) c.1373C>A (p.Ala458Asp) n.6314C>A n.1147C>A c.6422C>A (p.Ala2141Asp) n.6128C>A c.6731C>A (p.Ala2244Asp) c.5924C>A (p.Ala1975Asp) c.2225C>A (p.Ala742Asp) c.6311C>A (p.Ala2104Asp) c.5675C>A (p.Ala1892Asp) c.2465C>A (p.Ala822Asp) | |
5 | g.177294099C>G | CA362325355 | NSD1 | c.5858C>G (p.Ala1953Gly) c.1373C>G (p.Ala458Gly) n.6314C>G n.1147C>G c.6422C>G (p.Ala2141Gly) n.6128C>G c.6731C>G (p.Ala2244Gly) c.5924C>G (p.Ala1975Gly) c.2225C>G (p.Ala742Gly) c.6311C>G (p.Ala2104Gly) c.5675C>G (p.Ala1892Gly) c.2465C>G (p.Ala822Gly) | |
5 | g.177294099C>T | CA362325351 | NSD1 | c.5858C>T (p.Ala1953Val) c.1373C>T (p.Ala458Val) n.6314C>T n.1147C>T c.6422C>T (p.Ala2141Val) n.6128C>T c.6731C>T (p.Ala2244Val) c.5924C>T (p.Ala1975Val) c.2225C>T (p.Ala742Val) c.6311C>T (p.Ala2104Val) c.5675C>T (p.Ala1892Val) c.2465C>T (p.Ala822Val) | |
5 | g.177294100T>A | CA447961768 | NSD1 | c.5859T>A (p.Ala1953=) c.1374T>A (p.Ala458=) n.6315T>A n.1148T>A c.6423T>A (p.Ala2141=) n.6129T>A c.6732T>A (p.Ala2244=) c.5925T>A (p.Ala1975=) c.2226T>A (p.Ala742=) c.6312T>A (p.Ala2104=) c.5676T>A (p.Ala1892=) c.2466T>A (p.Ala822=) | |
5 | g.177294100T>C | CA447961770 | NSD1 | c.5859T>C (p.Ala1953=) c.1374T>C (p.Ala458=) n.6315T>C n.1148T>C c.6423T>C (p.Ala2141=) n.6129T>C c.6732T>C (p.Ala2244=) c.5925T>C (p.Ala1975=) c.2226T>C (p.Ala742=) c.6312T>C (p.Ala2104=) c.5676T>C (p.Ala1892=) c.2466T>C (p.Ala822=) | |
5 | g.177294100T>G | CA447961767 | NSD1 | c.5859T>G (p.Ala1953=) c.1374T>G (p.Ala458=) n.6315T>G n.1148T>G c.6423T>G (p.Ala2141=) n.6129T>G c.6732T>G (p.Ala2244=) c.5925T>G (p.Ala1975=) c.2226T>G (p.Ala742=) c.6312T>G (p.Ala2104=) c.5676T>G (p.Ala1892=) c.2466T>G (p.Ala822=) | |
5 | g.177294101G>A | CA362325365 | NSD1 | c.5860G>A (p.Ala1954Thr) c.1375G>A (p.Ala459Thr) n.6316G>A n.1149G>A c.6424G>A (p.Ala2142Thr) n.6130G>A c.6733G>A (p.Ala2245Thr) c.5926G>A (p.Ala1976Thr) c.2227G>A (p.Ala743Thr) c.6313G>A (p.Ala2105Thr) c.5677G>A (p.Ala1893Thr) c.2467G>A (p.Ala823Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.177294101G>C | CA362325363 | NSD1 | c.5860G>C (p.Ala1954Pro) c.1375G>C (p.Ala459Pro) n.6316G>C n.1149G>C c.6424G>C (p.Ala2142Pro) n.6130G>C c.6733G>C (p.Ala2245Pro) c.5926G>C (p.Ala1976Pro) c.2227G>C (p.Ala743Pro) c.6313G>C (p.Ala2105Pro) c.5677G>C (p.Ala1893Pro) c.2467G>C (p.Ala823Pro) | |
5 | g.177294101G= | CA1603535731 | NSD1 | c.5860G= (p.Ala1954=) c.1375G= (p.Ala459=) n.6316G= n.1149G= c.6424G= (p.Ala2142=) n.6130G= c.6733G= (p.Ala2245=) c.5926G= (p.Ala1976=) c.2227G= (p.Ala743=) c.6313G= (p.Ala2105=) c.5677G= (p.Ala1893=) c.2467G= (p.Ala823=) | |
5 | g.177294101G>T | CA362325368 | NSD1 | c.5860G>T (p.Ala1954Ser) c.1375G>T (p.Ala459Ser) n.6316G>T n.1149G>T c.6424G>T (p.Ala2142Ser) n.6130G>T c.6733G>T (p.Ala2245Ser) c.5926G>T (p.Ala1976Ser) c.2227G>T (p.Ala743Ser) c.6313G>T (p.Ala2105Ser) c.5677G>T (p.Ala1893Ser) c.2467G>T (p.Ala823Ser) | |
5 | g.177294102C>A | CA362325372 | NSD1 | c.5861C>A (p.Ala1954Asp) c.1376C>A (p.Ala459Asp) n.6317C>A n.1150C>A c.6425C>A (p.Ala2142Asp) n.6131C>A c.6734C>A (p.Ala2245Asp) c.5927C>A (p.Ala1976Asp) c.2228C>A (p.Ala743Asp) c.6314C>A (p.Ala2105Asp) c.5678C>A (p.Ala1893Asp) c.2468C>A (p.Ala823Asp) | |
5 | g.177294102C= | CA1603535735 | NSD1 | c.5861C= (p.Ala1954=) c.1376C= (p.Ala459=) n.6317C= n.1150C= c.6425C= (p.Ala2142=) n.6131C= c.6734C= (p.Ala2245=) c.5927C= (p.Ala1976=) c.2228C= (p.Ala743=) c.6314C= (p.Ala2105=) c.5678C= (p.Ala1893=) c.2468C= (p.Ala823=) | |
5 | g.177294102C>G | CA362325380 | NSD1 | c.5861C>G (p.Ala1954Gly) c.1376C>G (p.Ala459Gly) n.6317C>G n.1150C>G c.6425C>G (p.Ala2142Gly) n.6131C>G c.6734C>G (p.Ala2245Gly) c.5927C>G (p.Ala1976Gly) c.2228C>G (p.Ala743Gly) c.6314C>G (p.Ala2105Gly) c.5678C>G (p.Ala1893Gly) c.2468C>G (p.Ala823Gly) | |
5 | g.177294102C>T | CA3578035 | NSD1 | c.5861C>T (p.Ala1954Val) c.1376C>T (p.Ala459Val) n.6317C>T n.1150C>T c.6425C>T (p.Ala2142Val) n.6131C>T c.6734C>T (p.Ala2245Val) c.5927C>T (p.Ala1976Val) c.2228C>T (p.Ala743Val) c.6314C>T (p.Ala2105Val) c.5678C>T (p.Ala1893Val) c.2468C>T (p.Ala823Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294103T>A | CA447961773 | NSD1 | c.5862T>A (p.Ala1954=) c.1377T>A (p.Ala459=) n.6318T>A n.1151T>A c.6426T>A (p.Ala2142=) n.6132T>A c.6735T>A (p.Ala2245=) c.5928T>A (p.Ala1976=) c.2229T>A (p.Ala743=) c.6315T>A (p.Ala2105=) c.5679T>A (p.Ala1893=) c.2469T>A (p.Ala823=) | |
5 | g.177294103T>C | CA447961774 | NSD1 | c.5862T>C (p.Ala1954=) c.1377T>C (p.Ala459=) n.6318T>C n.1151T>C c.6426T>C (p.Ala2142=) n.6132T>C c.6735T>C (p.Ala2245=) c.5928T>C (p.Ala1976=) c.2229T>C (p.Ala743=) c.6315T>C (p.Ala2105=) c.5679T>C (p.Ala1893=) c.2469T>C (p.Ala823=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294103T>G | CA447961775 | NSD1 | c.5862T>G (p.Ala1954=) c.1377T>G (p.Ala459=) n.6318T>G n.1151T>G c.6426T>G (p.Ala2142=) n.6132T>G c.6735T>G (p.Ala2245=) c.5928T>G (p.Ala1976=) c.2229T>G (p.Ala743=) c.6315T>G (p.Ala2105=) c.5679T>G (p.Ala1893=) c.2469T>G (p.Ala823=) | |
5 | g.177294103T= | CA1603535740 | NSD1 | c.5862T= (p.Ala1954=) c.1377T= (p.Ala459=) n.6318T= n.1151T= c.6426T= (p.Ala2142=) n.6132T= c.6735T= (p.Ala2245=) c.5928T= (p.Ala1976=) c.2229T= (p.Ala743=) c.6315T= (p.Ala2105=) c.5679T= (p.Ala1893=) c.2469T= (p.Ala823=) | |
5 | g.177294104C>A | CA362325386 | NSD1 | c.5863C>A (p.Gln1955Lys) c.1378C>A (p.Gln460Lys) n.6319C>A n.1152C>A c.6427C>A (p.Gln2143Lys) n.6133C>A c.6736C>A (p.Gln2246Lys) c.5929C>A (p.Gln1977Lys) c.2230C>A (p.Gln744Lys) c.6316C>A (p.Gln2106Lys) c.5680C>A (p.Gln1894Lys) c.2470C>A (p.Gln824Lys) | gnomAD v4 |
5 | g.177294104C>G | CA362325387 | NSD1 | c.5863C>G (p.Gln1955Glu) c.1378C>G (p.Gln460Glu) n.6319C>G n.1152C>G c.6427C>G (p.Gln2143Glu) n.6133C>G c.6736C>G (p.Gln2246Glu) c.5929C>G (p.Gln1977Glu) c.2230C>G (p.Gln744Glu) c.6316C>G (p.Gln2106Glu) c.5680C>G (p.Gln1894Glu) c.2470C>G (p.Gln824Glu) | |
5 | g.177294104C>T | CA362325389 | NSD1 | c.5863C>T (p.Gln1955Ter) c.1378C>T (p.Gln460Ter) n.6319C>T n.1152C>T c.6427C>T (p.Gln2143Ter) n.6133C>T c.6736C>T (p.Gln2246Ter) c.5929C>T (p.Gln1977Ter) c.2230C>T (p.Gln744Ter) c.6316C>T (p.Gln2106Ter) c.5680C>T (p.Gln1894Ter) c.2470C>T (p.Gln824Ter) | |
5 | g.177294105A>C | CA362325400 | NSD1 | c.5864A>C (p.Gln1955Pro) c.1379A>C (p.Gln460Pro) n.6320A>C n.1153A>C c.6428A>C (p.Gln2143Pro) n.6134A>C c.6737A>C (p.Gln2246Pro) c.5930A>C (p.Gln1977Pro) c.2231A>C (p.Gln744Pro) c.6317A>C (p.Gln2106Pro) c.5681A>C (p.Gln1894Pro) c.2471A>C (p.Gln824Pro) | |
5 | g.177294105A>G | CA362325394 | NSD1 | c.5864A>G (p.Gln1955Arg) c.1379A>G (p.Gln460Arg) n.6320A>G n.1153A>G c.6428A>G (p.Gln2143Arg) n.6134A>G c.6737A>G (p.Gln2246Arg) c.5930A>G (p.Gln1977Arg) c.2231A>G (p.Gln744Arg) c.6317A>G (p.Gln2106Arg) c.5681A>G (p.Gln1894Arg) c.2471A>G (p.Gln824Arg) | dbSNP |
5 | g.177294105A>T | CA362325397 | NSD1 | c.5864A>T (p.Gln1955Leu) c.1379A>T (p.Gln460Leu) n.6320A>T n.1153A>T c.6428A>T (p.Gln2143Leu) n.6134A>T c.6737A>T (p.Gln2246Leu) c.5930A>T (p.Gln1977Leu) c.2231A>T (p.Gln744Leu) c.6317A>T (p.Gln2106Leu) c.5681A>T (p.Gln1894Leu) c.2471A>T (p.Gln824Leu) | |
5 | g.177294106G>A | CA447961780 | NSD1 | c.5865G>A (p.Gln1955=) c.1380G>A (p.Gln460=) n.6321G>A n.1154G>A c.6429G>A (p.Gln2143=) n.6135G>A c.6738G>A (p.Gln2246=) c.5931G>A (p.Gln1977=) c.2232G>A (p.Gln744=) c.6318G>A (p.Gln2106=) c.5682G>A (p.Gln1894=) c.2472G>A (p.Gln824=) | |
5 | g.177294106G>C | CA362325405 | NSD1 | c.5865G>C (p.Gln1955His) c.1380G>C (p.Gln460His) n.6321G>C n.1154G>C c.6429G>C (p.Gln2143His) n.6135G>C c.6738G>C (p.Gln2246His) c.5931G>C (p.Gln1977His) c.2232G>C (p.Gln744His) c.6318G>C (p.Gln2106His) c.5682G>C (p.Gln1894His) c.2472G>C (p.Gln824His) | |
5 | g.177294106G>T | CA362325408 | NSD1 | c.5865G>T (p.Gln1955His) c.1380G>T (p.Gln460His) n.6321G>T n.1154G>T c.6429G>T (p.Gln2143His) n.6135G>T c.6738G>T (p.Gln2246His) c.5931G>T (p.Gln1977His) c.2232G>T (p.Gln744His) c.6318G>T (p.Gln2106His) c.5682G>T (p.Gln1894His) c.2472G>T (p.Gln824His) | COSMIC COSMIC |
5 | g.177294107G>A | CA362325415 | NSD1 | c.5866G>A (p.Ala1956Thr) c.1381G>A (p.Ala461Thr) n.6322G>A n.1155G>A c.6430G>A (p.Ala2144Thr) n.6136G>A c.6739G>A (p.Ala2247Thr) c.5932G>A (p.Ala1978Thr) c.2233G>A (p.Ala745Thr) c.6319G>A (p.Ala2107Thr) c.5683G>A (p.Ala1895Thr) c.2473G>A (p.Ala825Thr) | dbSNP COSMIC COSMIC |
5 | g.177294107G>C | CA362325420 | NSD1 | c.5866G>C (p.Ala1956Pro) c.1381G>C (p.Ala461Pro) n.6322G>C n.1155G>C c.6430G>C (p.Ala2144Pro) n.6136G>C c.6739G>C (p.Ala2247Pro) c.5932G>C (p.Ala1978Pro) c.2233G>C (p.Ala745Pro) c.6319G>C (p.Ala2107Pro) c.5683G>C (p.Ala1895Pro) c.2473G>C (p.Ala825Pro) | |
5 | g.177294107G>T | CA362325423 | NSD1 | c.5866G>T (p.Ala1956Ser) c.1381G>T (p.Ala461Ser) n.6322G>T n.1155G>T c.6430G>T (p.Ala2144Ser) n.6136G>T c.6739G>T (p.Ala2247Ser) c.5932G>T (p.Ala1978Ser) c.2233G>T (p.Ala745Ser) c.6319G>T (p.Ala2107Ser) c.5683G>T (p.Ala1895Ser) c.2473G>T (p.Ala825Ser) | |
5 | g.177294108C>A | CA362325431 | NSD1 | c.5867C>A (p.Ala1956Glu) c.1382C>A (p.Ala461Glu) n.6323C>A n.1156C>A c.6431C>A (p.Ala2144Glu) n.6137C>A c.6740C>A (p.Ala2247Glu) c.5933C>A (p.Ala1978Glu) c.2234C>A (p.Ala745Glu) c.6320C>A (p.Ala2107Glu) c.5684C>A (p.Ala1895Glu) c.2474C>A (p.Ala825Glu) | |
5 | g.177294108C= | CA1603535743 | NSD1 | c.5867C= (p.Ala1956=) c.1382C= (p.Ala461=) n.6323C= n.1156C= c.6431C= (p.Ala2144=) n.6137C= c.6740C= (p.Ala2247=) c.5933C= (p.Ala1978=) c.2234C= (p.Ala745=) c.6320C= (p.Ala2107=) c.5684C= (p.Ala1895=) c.2474C= (p.Ala825=) | |
5 | g.177294108C>G | CA362325438 | NSD1 | c.5867C>G (p.Ala1956Gly) c.1382C>G (p.Ala461Gly) n.6323C>G n.1156C>G c.6431C>G (p.Ala2144Gly) n.6137C>G c.6740C>G (p.Ala2247Gly) c.5933C>G (p.Ala1978Gly) c.2234C>G (p.Ala745Gly) c.6320C>G (p.Ala2107Gly) c.5684C>G (p.Ala1895Gly) c.2474C>G (p.Ala825Gly) | |
5 | g.177294108C>T | CA362325433 | NSD1 | c.5867C>T (p.Ala1956Val) c.1382C>T (p.Ala461Val) n.6323C>T n.1156C>T c.6431C>T (p.Ala2144Val) n.6137C>T c.6740C>T (p.Ala2247Val) c.5933C>T (p.Ala1978Val) c.2234C>T (p.Ala745Val) c.6320C>T (p.Ala2107Val) c.5684C>T (p.Ala1895Val) c.2474C>T (p.Ala825Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294109A>C | CA447961781 | NSD1 | c.5868A>C (p.Ala1956=) c.1383A>C (p.Ala461=) n.6324A>C n.1157A>C c.6432A>C (p.Ala2144=) n.6138A>C c.6741A>C (p.Ala2247=) c.5934A>C (p.Ala1978=) c.2235A>C (p.Ala745=) c.6321A>C (p.Ala2107=) c.5685A>C (p.Ala1895=) c.2475A>C (p.Ala825=) | |
5 | g.177294109A>G | CA447961782 | NSD1 | c.5868A>G (p.Ala1956=) c.1383A>G (p.Ala461=) n.6324A>G n.1157A>G c.6432A>G (p.Ala2144=) n.6138A>G c.6741A>G (p.Ala2247=) c.5934A>G (p.Ala1978=) c.2235A>G (p.Ala745=) c.6321A>G (p.Ala2107=) c.5685A>G (p.Ala1895=) c.2475A>G (p.Ala825=) | gnomAD v4 |
5 | g.177294109A>T | CA447961783 | NSD1 | c.5868A>T (p.Ala1956=) c.1383A>T (p.Ala461=) n.6324A>T n.1157A>T c.6432A>T (p.Ala2144=) n.6138A>T c.6741A>T (p.Ala2247=) c.5934A>T (p.Ala1978=) c.2235A>T (p.Ala745=) c.6321A>T (p.Ala2107=) c.5685A>T (p.Ala1895=) c.2475A>T (p.Ala825=) | |
5 | g.177294110C>A | CA362325445 | NSD1 | c.5869C>A (p.Pro1957Thr) c.1384C>A (p.Pro462Thr) n.6325C>A n.1158C>A c.6433C>A (p.Pro2145Thr) n.6139C>A c.6742C>A (p.Pro2248Thr) c.5935C>A (p.Pro1979Thr) c.2236C>A (p.Pro746Thr) c.6322C>A (p.Pro2108Thr) c.5686C>A (p.Pro1896Thr) c.2476C>A (p.Pro826Thr) | |
5 | g.177294110C>G | CA362325450 | NSD1 | c.5869C>G (p.Pro1957Ala) c.1384C>G (p.Pro462Ala) n.6325C>G n.1158C>G c.6433C>G (p.Pro2145Ala) n.6139C>G c.6742C>G (p.Pro2248Ala) c.5935C>G (p.Pro1979Ala) c.2236C>G (p.Pro746Ala) c.6322C>G (p.Pro2108Ala) c.5686C>G (p.Pro1896Ala) c.2476C>G (p.Pro826Ala) | |
5 | g.177294110C>T | CA362325455 | NSD1 | c.5869C>T (p.Pro1957Ser) c.1384C>T (p.Pro462Ser) n.6325C>T n.1158C>T c.6433C>T (p.Pro2145Ser) n.6139C>T c.6742C>T (p.Pro2248Ser) c.5935C>T (p.Pro1979Ser) c.2236C>T (p.Pro746Ser) c.6322C>T (p.Pro2108Ser) c.5686C>T (p.Pro1896Ser) c.2476C>T (p.Pro826Ser) | |
5 | g.177294111C>A | CA362325458 | NSD1 | c.5870C>A (p.Pro1957His) c.1385C>A (p.Pro462His) n.6326C>A n.1159C>A c.6434C>A (p.Pro2145His) n.6140C>A c.6743C>A (p.Pro2248His) c.5936C>A (p.Pro1979His) c.2237C>A (p.Pro746His) c.6323C>A (p.Pro2108His) c.5687C>A (p.Pro1896His) c.2477C>A (p.Pro826His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294111C= | CA1603535751 | NSD1 | c.5870C= (p.Pro1957=) c.1385C= (p.Pro462=) n.6326C= n.1159C= c.6434C= (p.Pro2145=) n.6140C= c.6743C= (p.Pro2248=) c.5936C= (p.Pro1979=) c.2237C= (p.Pro746=) c.6323C= (p.Pro2108=) c.5687C= (p.Pro1896=) c.2477C= (p.Pro826=) | |
5 | g.177294111C>G | CA362325460 | NSD1 | c.5870C>G (p.Pro1957Arg) c.1385C>G (p.Pro462Arg) n.6326C>G n.1159C>G c.6434C>G (p.Pro2145Arg) n.6140C>G c.6743C>G (p.Pro2248Arg) c.5936C>G (p.Pro1979Arg) c.2237C>G (p.Pro746Arg) c.6323C>G (p.Pro2108Arg) c.5687C>G (p.Pro1896Arg) c.2477C>G (p.Pro826Arg) | |
5 | g.177294111C>T | CA362325464 | NSD1 | c.5870C>T (p.Pro1957Leu) c.1385C>T (p.Pro462Leu) n.6326C>T n.1159C>T c.6434C>T (p.Pro2145Leu) n.6140C>T c.6743C>T (p.Pro2248Leu) c.5936C>T (p.Pro1979Leu) c.2237C>T (p.Pro746Leu) c.6323C>T (p.Pro2108Leu) c.5687C>T (p.Pro1896Leu) c.2477C>T (p.Pro826Leu) | |
5 | g.177294112C>A | CA447961788 | NSD1 | c.5871C>A (p.Pro1957=) c.1386C>A (p.Pro462=) n.6327C>A n.1160C>A c.6435C>A (p.Pro2145=) n.6141C>A c.6744C>A (p.Pro2248=) c.5937C>A (p.Pro1979=) c.2238C>A (p.Pro746=) c.6324C>A (p.Pro2108=) c.5688C>A (p.Pro1896=) c.2478C>A (p.Pro826=) | |
5 | g.177294112C= | CA1603535754 | NSD1 | c.5871C= (p.Pro1957=) c.1386C= (p.Pro462=) n.6327C= n.1160C= c.6435C= (p.Pro2145=) n.6141C= c.6744C= (p.Pro2248=) c.5937C= (p.Pro1979=) c.2238C= (p.Pro746=) c.6324C= (p.Pro2108=) c.5688C= (p.Pro1896=) c.2478C= (p.Pro826=) | |
5 | g.177294112C>G | CA447961789 | NSD1 | c.5871C>G (p.Pro1957=) c.1386C>G (p.Pro462=) n.6327C>G n.1160C>G c.6435C>G (p.Pro2145=) n.6141C>G c.6744C>G (p.Pro2248=) c.5937C>G (p.Pro1979=) c.2238C>G (p.Pro746=) c.6324C>G (p.Pro2108=) c.5688C>G (p.Pro1896=) c.2478C>G (p.Pro826=) | |
5 | g.177294112C>T | CA3578036 | NSD1 | c.5871C>T (p.Pro1957=) c.1386C>T (p.Pro462=) n.6327C>T n.1160C>T c.6435C>T (p.Pro2145=) n.6141C>T c.6744C>T (p.Pro2248=) c.5937C>T (p.Pro1979=) c.2238C>T (p.Pro746=) c.6324C>T (p.Pro2108=) c.5688C>T (p.Pro1896=) c.2478C>T (p.Pro826=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294113A>C | CA362325467 | NSD1 | c.5872A>C (p.Lys1958Gln) c.1387A>C (p.Lys463Gln) n.6328A>C n.1161A>C c.6436A>C (p.Lys2146Gln) n.6142A>C c.6745A>C (p.Lys2249Gln) c.5938A>C (p.Lys1980Gln) c.2239A>C (p.Lys747Gln) c.6325A>C (p.Lys2109Gln) c.5689A>C (p.Lys1897Gln) c.2479A>C (p.Lys827Gln) | |
5 | g.177294113A>G | CA362325469 | NSD1 | c.5872A>G (p.Lys1958Glu) c.1387A>G (p.Lys463Glu) n.6328A>G n.1161A>G c.6436A>G (p.Lys2146Glu) n.6142A>G c.6745A>G (p.Lys2249Glu) c.5938A>G (p.Lys1980Glu) c.2239A>G (p.Lys747Glu) c.6325A>G (p.Lys2109Glu) c.5689A>G (p.Lys1897Glu) c.2479A>G (p.Lys827Glu) | |
5 | g.177294113A>T | CA362325473 | NSD1 | c.5872A>T (p.Lys1958Ter) c.1387A>T (p.Lys463Ter) n.6328A>T n.1161A>T c.6436A>T (p.Lys2146Ter) n.6142A>T c.6745A>T (p.Lys2249Ter) c.5938A>T (p.Lys1980Ter) c.2239A>T (p.Lys747Ter) c.6325A>T (p.Lys2109Ter) c.5689A>T (p.Lys1897Ter) c.2479A>T (p.Lys827Ter) | |
5 | g.177294116del | CA2545917841 | NSD1 | c.5875del (p.Met1959CysfsTer?) c.1390del (p.Met464CysfsTer?) n.6331del n.1164del c.6439del (p.Met2147CysfsTer?) n.6145del c.6748del (p.Met2250CysfsTer?) c.5941del (p.Met1981CysfsTer?) c.2242del (p.Met748CysfsTer?) c.6328del (p.Met2110CysfsTer?) c.5692del (p.Met1898CysfsTer?) c.2482del (p.Met828CysfsTer?) | |
5 | g.177294114A= | CA1603535756 | NSD1 | c.5873A= (p.Lys1958=) c.1388A= (p.Lys463=) n.6329A= n.1162A= c.6437A= (p.Lys2146=) n.6143A= c.6746A= (p.Lys2249=) c.5939A= (p.Lys1980=) c.2240A= (p.Lys747=) c.6326A= (p.Lys2109=) c.5690A= (p.Lys1897=) c.2480A= (p.Lys827=) | |
5 | g.177294114A>C | CA362325484 | NSD1 | c.5873A>C (p.Lys1958Thr) c.1388A>C (p.Lys463Thr) n.6329A>C n.1162A>C c.6437A>C (p.Lys2146Thr) n.6143A>C c.6746A>C (p.Lys2249Thr) c.5939A>C (p.Lys1980Thr) c.2240A>C (p.Lys747Thr) c.6326A>C (p.Lys2109Thr) c.5690A>C (p.Lys1897Thr) c.2480A>C (p.Lys827Thr) | |
5 | g.177294114A>G | CA362325482 | NSD1 | c.5873A>G (p.Lys1958Arg) c.1388A>G (p.Lys463Arg) n.6329A>G n.1162A>G c.6437A>G (p.Lys2146Arg) n.6143A>G c.6746A>G (p.Lys2249Arg) c.5939A>G (p.Lys1980Arg) c.2240A>G (p.Lys747Arg) c.6326A>G (p.Lys2109Arg) c.5690A>G (p.Lys1897Arg) c.2480A>G (p.Lys827Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294114A>T | CA362325480 | NSD1 | c.5873A>T (p.Lys1958Ile) c.1388A>T (p.Lys463Ile) n.6329A>T n.1162A>T c.6437A>T (p.Lys2146Ile) n.6143A>T c.6746A>T (p.Lys2249Ile) c.5939A>T (p.Lys1980Ile) c.2240A>T (p.Lys747Ile) c.6326A>T (p.Lys2109Ile) c.5690A>T (p.Lys1897Ile) c.2480A>T (p.Lys827Ile) | |
5 | g.177294115A>C | CA362325488 | NSD1 | c.5874A>C (p.Lys1958Asn) c.1389A>C (p.Lys463Asn) n.6330A>C n.1163A>C c.6438A>C (p.Lys2146Asn) n.6144A>C c.6747A>C (p.Lys2249Asn) c.5940A>C (p.Lys1980Asn) c.2241A>C (p.Lys747Asn) c.6327A>C (p.Lys2109Asn) c.5691A>C (p.Lys1897Asn) c.2481A>C (p.Lys827Asn) | |
5 | g.177294115A>G | CA447961793 | NSD1 | c.5874A>G (p.Lys1958=) c.1389A>G (p.Lys463=) n.6330A>G n.1163A>G c.6438A>G (p.Lys2146=) n.6144A>G c.6747A>G (p.Lys2249=) c.5940A>G (p.Lys1980=) c.2241A>G (p.Lys747=) c.6327A>G (p.Lys2109=) c.5691A>G (p.Lys1897=) c.2481A>G (p.Lys827=) | |
5 | g.177294115A>T | CA362325491 | NSD1 | c.5874A>T (p.Lys1958Asn) c.1389A>T (p.Lys463Asn) n.6330A>T n.1163A>T c.6438A>T (p.Lys2146Asn) n.6144A>T c.6747A>T (p.Lys2249Asn) c.5940A>T (p.Lys1980Asn) c.2241A>T (p.Lys747Asn) c.6327A>T (p.Lys2109Asn) c.5691A>T (p.Lys1897Asn) c.2481A>T (p.Lys827Asn) | |
5 | g.177294116A>C | CA362325501 | NSD1 | c.5875A>C (p.Met1959Leu) c.1390A>C (p.Met464Leu) n.6331A>C n.1164A>C c.6439A>C (p.Met2147Leu) n.6145A>C c.6748A>C (p.Met2250Leu) c.5941A>C (p.Met1981Leu) c.2242A>C (p.Met748Leu) c.6328A>C (p.Met2110Leu) c.5692A>C (p.Met1898Leu) c.2482A>C (p.Met828Leu) | |
5 | g.177294116A>G | CA362325502 | NSD1 | c.5875A>G (p.Met1959Val) c.1390A>G (p.Met464Val) n.6331A>G n.1164A>G c.6439A>G (p.Met2147Val) n.6145A>G c.6748A>G (p.Met2250Val) c.5941A>G (p.Met1981Val) c.2242A>G (p.Met748Val) c.6328A>G (p.Met2110Val) c.5692A>G (p.Met1898Val) c.2482A>G (p.Met828Val) | |
5 | g.177294116A>T | CA362325503 | NSD1 | c.5875A>T (p.Met1959Leu) c.1390A>T (p.Met464Leu) n.6331A>T n.1164A>T c.6439A>T (p.Met2147Leu) n.6145A>T c.6748A>T (p.Met2250Leu) c.5941A>T (p.Met1981Leu) c.2242A>T (p.Met748Leu) c.6328A>T (p.Met2110Leu) c.5692A>T (p.Met1898Leu) c.2482A>T (p.Met828Leu) | |
5 | g.177294117T>A | CA362325510 | NSD1 | c.5876T>A (p.Met1959Lys) c.1391T>A (p.Met464Lys) n.6332T>A n.1165T>A c.6440T>A (p.Met2147Lys) n.6146T>A c.6749T>A (p.Met2250Lys) c.5942T>A (p.Met1981Lys) c.2243T>A (p.Met748Lys) c.6329T>A (p.Met2110Lys) c.5693T>A (p.Met1898Lys) c.2483T>A (p.Met828Lys) | |
5 | g.177294117T>C | CA362325507 | NSD1 | c.5876T>C (p.Met1959Thr) c.1391T>C (p.Met464Thr) n.6332T>C n.1165T>C c.6440T>C (p.Met2147Thr) n.6146T>C c.6749T>C (p.Met2250Thr) c.5942T>C (p.Met1981Thr) c.2243T>C (p.Met748Thr) c.6329T>C (p.Met2110Thr) c.5693T>C (p.Met1898Thr) c.2483T>C (p.Met828Thr) | |
5 | g.177294117T>G | CA362325504 | NSD1 | c.5876T>G (p.Met1959Arg) c.1391T>G (p.Met464Arg) n.6332T>G n.1165T>G c.6440T>G (p.Met2147Arg) n.6146T>G c.6749T>G (p.Met2250Arg) c.5942T>G (p.Met1981Arg) c.2243T>G (p.Met748Arg) c.6329T>G (p.Met2110Arg) c.5693T>G (p.Met1898Arg) c.2483T>G (p.Met828Arg) | |
5 | g.177294118G>A | CA149206 | NSD1 | c.5877G>A (p.Met1959Ile) c.1392G>A (p.Met464Ile) n.6333G>A n.1166G>A c.6441G>A (p.Met2147Ile) n.6147G>A c.6750G>A (p.Met2250Ile) c.5943G>A (p.Met1981Ile) c.2244G>A (p.Met748Ile) c.6330G>A (p.Met2110Ile) c.5694G>A (p.Met1898Ile) c.2484G>A (p.Met828Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294118G>C | CA362325521 | NSD1 | c.5877G>C (p.Met1959Ile) c.1392G>C (p.Met464Ile) n.6333G>C n.1166G>C c.6441G>C (p.Met2147Ile) n.6147G>C c.6750G>C (p.Met2250Ile) c.5943G>C (p.Met1981Ile) c.2244G>C (p.Met748Ile) c.6330G>C (p.Met2110Ile) c.5694G>C (p.Met1898Ile) c.2484G>C (p.Met828Ile) | |
5 | g.177294118G= | CA1603535764 | NSD1 | c.5877G= (p.Met1959=) c.1392G= (p.Met464=) n.6333G= n.1166G= c.6441G= (p.Met2147=) n.6147G= c.6750G= (p.Met2250=) c.5943G= (p.Met1981=) c.2244G= (p.Met748=) c.6330G= (p.Met2110=) c.5694G= (p.Met1898=) c.2484G= (p.Met828=) | |
5 | g.177294118G>T | CA362325523 | NSD1 | c.5877G>T (p.Met1959Ile) c.1392G>T (p.Met464Ile) n.6333G>T n.1166G>T c.6441G>T (p.Met2147Ile) n.6147G>T c.6750G>T (p.Met2250Ile) c.5943G>T (p.Met1981Ile) c.2244G>T (p.Met748Ile) c.6330G>T (p.Met2110Ile) c.5694G>T (p.Met1898Ile) c.2484G>T (p.Met828Ile) | dbSNP gnomAD v4 |
5 | g.177294119T>A | CA362325530 | NSD1 | c.5878T>A (p.Ser1960Thr) c.1393T>A (p.Ser465Thr) n.6334T>A n.1167T>A c.6442T>A (p.Ser2148Thr) n.6148T>A c.6751T>A (p.Ser2251Thr) c.5944T>A (p.Ser1982Thr) c.2245T>A (p.Ser749Thr) c.6331T>A (p.Ser2111Thr) c.5695T>A (p.Ser1899Thr) c.2485T>A (p.Ser829Thr) | |
5 | g.177294119T>C | CA362325534 | NSD1 | c.5878T>C (p.Ser1960Pro) c.1393T>C (p.Ser465Pro) n.6334T>C n.1167T>C c.6442T>C (p.Ser2148Pro) n.6148T>C c.6751T>C (p.Ser2251Pro) c.5944T>C (p.Ser1982Pro) c.2245T>C (p.Ser749Pro) c.6331T>C (p.Ser2111Pro) c.5695T>C (p.Ser1899Pro) c.2485T>C (p.Ser829Pro) | |
5 | g.177294119T>G | CA362325538 | NSD1 | c.5878T>G (p.Ser1960Ala) c.1393T>G (p.Ser465Ala) n.6334T>G n.1167T>G c.6442T>G (p.Ser2148Ala) n.6148T>G c.6751T>G (p.Ser2251Ala) c.5944T>G (p.Ser1982Ala) c.2245T>G (p.Ser749Ala) c.6331T>G (p.Ser2111Ala) c.5695T>G (p.Ser1899Ala) c.2485T>G (p.Ser829Ala) | |
5 | g.177294120C>A | CA362325546 | NSD1 | c.5879C>A (p.Ser1960Ter) c.1394C>A (p.Ser465Ter) n.6335C>A n.1168C>A c.6443C>A (p.Ser2148Ter) n.6149C>A c.6752C>A (p.Ser2251Ter) c.5945C>A (p.Ser1982Ter) c.2246C>A (p.Ser749Ter) c.6332C>A (p.Ser2111Ter) c.5696C>A (p.Ser1899Ter) c.2486C>A (p.Ser829Ter) | |
5 | g.177294120C>G | CA362325558 | NSD1 | c.5879C>G (p.Ser1960Ter) c.1394C>G (p.Ser465Ter) n.6335C>G n.1168C>G c.6443C>G (p.Ser2148Ter) n.6149C>G c.6752C>G (p.Ser2251Ter) c.5945C>G (p.Ser1982Ter) c.2246C>G (p.Ser749Ter) c.6332C>G (p.Ser2111Ter) c.5696C>G (p.Ser1899Ter) c.2486C>G (p.Ser829Ter) | |
5 | g.177294120C>T | CA362325549 | NSD1 | c.5879C>T (p.Ser1960Leu) c.1394C>T (p.Ser465Leu) n.6335C>T n.1168C>T c.6443C>T (p.Ser2148Leu) n.6149C>T c.6752C>T (p.Ser2251Leu) c.5945C>T (p.Ser1982Leu) c.2246C>T (p.Ser749Leu) c.6332C>T (p.Ser2111Leu) c.5696C>T (p.Ser1899Leu) c.2486C>T (p.Ser829Leu) | |
5 | g.177294121A= | CA1603535777 | NSD1 | c.5880A= (p.Ser1960=) c.1395A= (p.Ser465=) n.6336A= n.1169A= c.6444A= (p.Ser2148=) n.6150A= c.6753A= (p.Ser2251=) c.5946A= (p.Ser1982=) c.2247A= (p.Ser749=) c.6333A= (p.Ser2111=) c.5697A= (p.Ser1899=) c.2487A= (p.Ser829=) | |
5 | g.177294121A>C | CA447961801 | NSD1 | c.5880A>C (p.Ser1960=) c.1395A>C (p.Ser465=) n.6336A>C n.1169A>C c.6444A>C (p.Ser2148=) n.6150A>C c.6753A>C (p.Ser2251=) c.5946A>C (p.Ser1982=) c.2247A>C (p.Ser749=) c.6333A>C (p.Ser2111=) c.5697A>C (p.Ser1899=) c.2487A>C (p.Ser829=) | |
5 | g.177294121A>G | CA295120 | NSD1 | c.5880A>G (p.Ser1960=) c.1395A>G (p.Ser465=) n.6336A>G n.1169A>G c.6444A>G (p.Ser2148=) n.6150A>G c.6753A>G (p.Ser2251=) c.5946A>G (p.Ser1982=) c.2247A>G (p.Ser749=) c.6333A>G (p.Ser2111=) c.5697A>G (p.Ser1899=) c.2487A>G (p.Ser829=) | ClinVar dbSNP |
5 | g.177294121A>T | CA447961804 | NSD1 | c.5880A>T (p.Ser1960=) c.1395A>T (p.Ser465=) n.6336A>T n.1169A>T c.6444A>T (p.Ser2148=) n.6150A>T c.6753A>T (p.Ser2251=) c.5946A>T (p.Ser1982=) c.2247A>T (p.Ser749=) c.6333A>T (p.Ser2111=) c.5697A>T (p.Ser1899=) c.2487A>T (p.Ser829=) | |
5 | g.177294122G>A | CA362325569 | NSD1 | c.5881G>A (p.Asp1961Asn) c.1396G>A (p.Asp466Asn) n.6337G>A n.1170G>A c.6445G>A (p.Asp2149Asn) n.6151G>A c.6754G>A (p.Asp2252Asn) c.5947G>A (p.Asp1983Asn) c.2248G>A (p.Asp750Asn) c.6334G>A (p.Asp2112Asn) c.5698G>A (p.Asp1900Asn) c.2488G>A (p.Asp830Asn) | |
5 | g.177294122G>C | CA362325574 | NSD1 | c.5881G>C (p.Asp1961His) c.1396G>C (p.Asp466His) n.6337G>C n.1170G>C c.6445G>C (p.Asp2149His) n.6151G>C c.6754G>C (p.Asp2252His) c.5947G>C (p.Asp1983His) c.2248G>C (p.Asp750His) c.6334G>C (p.Asp2112His) c.5698G>C (p.Asp1900His) c.2488G>C (p.Asp830His) | |
5 | g.177294122G>T | CA362325578 | NSD1 | c.5881G>T (p.Asp1961Tyr) c.1396G>T (p.Asp466Tyr) n.6337G>T n.1170G>T c.6445G>T (p.Asp2149Tyr) n.6151G>T c.6754G>T (p.Asp2252Tyr) c.5947G>T (p.Asp1983Tyr) c.2248G>T (p.Asp750Tyr) c.6334G>T (p.Asp2112Tyr) c.5698G>T (p.Asp1900Tyr) c.2488G>T (p.Asp830Tyr) | |
5 | g.177294123A>C | CA362325583 | NSD1 | c.5882A>C (p.Asp1961Ala) c.1397A>C (p.Asp466Ala) n.6338A>C n.1171A>C c.6446A>C (p.Asp2149Ala) n.6152A>C c.6755A>C (p.Asp2252Ala) c.5948A>C (p.Asp1983Ala) c.2249A>C (p.Asp750Ala) c.6335A>C (p.Asp2112Ala) c.5699A>C (p.Asp1900Ala) c.2489A>C (p.Asp830Ala) | |
5 | g.177294123A>G | CA362325585 | NSD1 | c.5882A>G (p.Asp1961Gly) c.1397A>G (p.Asp466Gly) n.6338A>G n.1171A>G c.6446A>G (p.Asp2149Gly) n.6152A>G c.6755A>G (p.Asp2252Gly) c.5948A>G (p.Asp1983Gly) c.2249A>G (p.Asp750Gly) c.6335A>G (p.Asp2112Gly) c.5699A>G (p.Asp1900Gly) c.2489A>G (p.Asp830Gly) | |
5 | g.177294123A>T | CA362325590 | NSD1 | c.5882A>T (p.Asp1961Val) c.1397A>T (p.Asp466Val) n.6338A>T n.1171A>T c.6446A>T (p.Asp2149Val) n.6152A>T c.6755A>T (p.Asp2252Val) c.5948A>T (p.Asp1983Val) c.2249A>T (p.Asp750Val) c.6335A>T (p.Asp2112Val) c.5699A>T (p.Asp1900Val) c.2489A>T (p.Asp830Val) | |
5 | g.177294124T>A | CA362325594 | NSD1 | c.5883T>A (p.Asp1961Glu) c.1398T>A (p.Asp466Glu) n.6339T>A n.1172T>A c.6447T>A (p.Asp2149Glu) n.6153T>A c.6756T>A (p.Asp2252Glu) c.5949T>A (p.Asp1983Glu) c.2250T>A (p.Asp750Glu) c.6336T>A (p.Asp2112Glu) c.5700T>A (p.Asp1900Glu) c.2490T>A (p.Asp830Glu) | |
5 | g.177294124T>C | CA447961808 | NSD1 | c.5883T>C (p.Asp1961=) c.1398T>C (p.Asp466=) n.6339T>C n.1172T>C c.6447T>C (p.Asp2149=) n.6153T>C c.6756T>C (p.Asp2252=) c.5949T>C (p.Asp1983=) c.2250T>C (p.Asp750=) c.6336T>C (p.Asp2112=) c.5700T>C (p.Asp1900=) c.2490T>C (p.Asp830=) | |
5 | g.177294124T>G | CA362325598 | NSD1 | c.5883T>G (p.Asp1961Glu) c.1398T>G (p.Asp466Glu) n.6339T>G n.1172T>G c.6447T>G (p.Asp2149Glu) n.6153T>G c.6756T>G (p.Asp2252Glu) c.5949T>G (p.Asp1983Glu) c.2250T>G (p.Asp750Glu) c.6336T>G (p.Asp2112Glu) c.5700T>G (p.Asp1900Glu) c.2490T>G (p.Asp830Glu) | |
5 | g.177294125A>C | CA362325602 | NSD1 | c.5884A>C (p.Lys1962Gln) c.1399A>C (p.Lys467Gln) n.6340A>C n.1173A>C c.6448A>C (p.Lys2150Gln) n.6154A>C c.6757A>C (p.Lys2253Gln) c.5950A>C (p.Lys1984Gln) c.2251A>C (p.Lys751Gln) c.6337A>C (p.Lys2113Gln) c.5701A>C (p.Lys1901Gln) c.2491A>C (p.Lys831Gln) | gnomAD v4 |
5 | g.177294125A>G | CA362325605 | NSD1 | c.5884A>G (p.Lys1962Glu) c.1399A>G (p.Lys467Glu) n.6340A>G n.1173A>G c.6448A>G (p.Lys2150Glu) n.6154A>G c.6757A>G (p.Lys2253Glu) c.5950A>G (p.Lys1984Glu) c.2251A>G (p.Lys751Glu) c.6337A>G (p.Lys2113Glu) c.5701A>G (p.Lys1901Glu) c.2491A>G (p.Lys831Glu) | |
5 | g.177294125A>T | CA362325611 | NSD1 | c.5884A>T (p.Lys1962Ter) c.1399A>T (p.Lys467Ter) n.6340A>T n.1173A>T c.6448A>T (p.Lys2150Ter) n.6154A>T c.6757A>T (p.Lys2253Ter) c.5950A>T (p.Lys1984Ter) c.2251A>T (p.Lys751Ter) c.6337A>T (p.Lys2113Ter) c.5701A>T (p.Lys1901Ter) c.2491A>T (p.Lys831Ter) | |
5 | g.177294126A>C | CA362325628 | NSD1 | c.5885A>C (p.Lys1962Thr) c.1400A>C (p.Lys467Thr) n.6341A>C n.1174A>C c.6449A>C (p.Lys2150Thr) n.6155A>C c.6758A>C (p.Lys2253Thr) c.5951A>C (p.Lys1984Thr) c.2252A>C (p.Lys751Thr) c.6338A>C (p.Lys2113Thr) c.5702A>C (p.Lys1901Thr) c.2492A>C (p.Lys831Thr) | |
5 | g.177294126A>G | CA362325620 | NSD1 | c.5885A>G (p.Lys1962Arg) c.1400A>G (p.Lys467Arg) n.6341A>G n.1174A>G c.6449A>G (p.Lys2150Arg) n.6155A>G c.6758A>G (p.Lys2253Arg) c.5951A>G (p.Lys1984Arg) c.2252A>G (p.Lys751Arg) c.6338A>G (p.Lys2113Arg) c.5702A>G (p.Lys1901Arg) c.2492A>G (p.Lys831Arg) | |
5 | g.177294126A>T | CA362325617 | NSD1 | c.5885A>T (p.Lys1962Ile) c.1400A>T (p.Lys467Ile) n.6341A>T n.1174A>T c.6449A>T (p.Lys2150Ile) n.6155A>T c.6758A>T (p.Lys2253Ile) c.5951A>T (p.Lys1984Ile) c.2252A>T (p.Lys751Ile) c.6338A>T (p.Lys2113Ile) c.5702A>T (p.Lys1901Ile) c.2492A>T (p.Lys831Ile) | |
5 | g.177294127A= | CA1603535783 | NSD1 | c.5886A= (p.Lys1962=) c.1401A= (p.Lys467=) n.6342A= n.1175A= c.6450A= (p.Lys2150=) n.6156A= c.6759A= (p.Lys2253=) c.5952A= (p.Lys1984=) c.2253A= (p.Lys751=) c.6339A= (p.Lys2113=) c.5703A= (p.Lys1901=) c.2493A= (p.Lys831=) | |
5 | g.177294127A>C | CA362325634 | NSD1 | c.5886A>C (p.Lys1962Asn) c.1401A>C (p.Lys467Asn) n.6342A>C n.1175A>C c.6450A>C (p.Lys2150Asn) n.6156A>C c.6759A>C (p.Lys2253Asn) c.5952A>C (p.Lys1984Asn) c.2253A>C (p.Lys751Asn) c.6339A>C (p.Lys2113Asn) c.5703A>C (p.Lys1901Asn) c.2493A>C (p.Lys831Asn) | dbSNP |
5 | g.177294127A>G | CA447961813 | NSD1 | c.5886A>G (p.Lys1962=) c.1401A>G (p.Lys467=) n.6342A>G n.1175A>G c.6450A>G (p.Lys2150=) n.6156A>G c.6759A>G (p.Lys2253=) c.5952A>G (p.Lys1984=) c.2253A>G (p.Lys751=) c.6339A>G (p.Lys2113=) c.5703A>G (p.Lys1901=) c.2493A>G (p.Lys831=) | |
5 | g.177294127A>T | CA3578037 | NSD1 | c.5886A>T (p.Lys1962Asn) c.1401A>T (p.Lys467Asn) n.6342A>T n.1175A>T c.6450A>T (p.Lys2150Asn) n.6156A>T c.6759A>T (p.Lys2253Asn) c.5952A>T (p.Lys1984Asn) c.2253A>T (p.Lys751Asn) c.6339A>T (p.Lys2113Asn) c.5703A>T (p.Lys1901Asn) c.2493A>T (p.Lys831Asn) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.177294128C>A | CA362325640 | NSD1 | c.5887C>A (p.Pro1963Thr) c.1402C>A (p.Pro468Thr) n.6343C>A n.1176C>A c.6451C>A (p.Pro2151Thr) n.6157C>A c.6760C>A (p.Pro2254Thr) c.5953C>A (p.Pro1985Thr) c.2254C>A (p.Pro752Thr) c.6340C>A (p.Pro2114Thr) c.5704C>A (p.Pro1902Thr) c.2494C>A (p.Pro832Thr) | |
5 | g.177294128C>G | CA362325643 | NSD1 | c.5887C>G (p.Pro1963Ala) c.1402C>G (p.Pro468Ala) n.6343C>G n.1176C>G c.6451C>G (p.Pro2151Ala) n.6157C>G c.6760C>G (p.Pro2254Ala) c.5953C>G (p.Pro1985Ala) c.2254C>G (p.Pro752Ala) c.6340C>G (p.Pro2114Ala) c.5704C>G (p.Pro1902Ala) c.2494C>G (p.Pro832Ala) | |
5 | g.177294128C>T | CA362325647 | NSD1 | c.5887C>T (p.Pro1963Ser) c.1402C>T (p.Pro468Ser) n.6343C>T n.1176C>T c.6451C>T (p.Pro2151Ser) n.6157C>T c.6760C>T (p.Pro2254Ser) c.5953C>T (p.Pro1985Ser) c.2254C>T (p.Pro752Ser) c.6340C>T (p.Pro2114Ser) c.5704C>T (p.Pro1902Ser) c.2494C>T (p.Pro832Ser) | |
5 | g.177294131_177294133del | CA2580614807 | NSD1 | c.5890_5892del (p.Pro1964del) c.1405_1407del (p.Pro469del) n.6346_6348del n.1179_1181del c.6454_6456del (p.Pro2152del) n.6160_6162del c.6763_6765del (p.Pro2255del) c.5956_5958del (p.Pro1986del) c.2257_2259del (p.Pro753del) c.6343_6345del (p.Pro2115del) c.5707_5709del (p.Pro1903del) c.2497_2499del (p.Pro833del) | ClinVar |
5 | g.177294129C>A | CA362325653 | NSD1 | c.5888C>A (p.Pro1963His) c.1403C>A (p.Pro468His) n.6344C>A n.1177C>A c.6452C>A (p.Pro2151His) n.6158C>A c.6761C>A (p.Pro2254His) c.5954C>A (p.Pro1985His) c.2255C>A (p.Pro752His) c.6341C>A (p.Pro2114His) c.5705C>A (p.Pro1902His) c.2495C>A (p.Pro832His) | gnomAD v4 |
5 | g.177294129C= | CA1603535787 | NSD1 | c.5888C= (p.Pro1963=) c.1403C= (p.Pro468=) n.6344C= n.1177C= c.6452C= (p.Pro2151=) n.6158C= c.6761C= (p.Pro2254=) c.5954C= (p.Pro1985=) c.2255C= (p.Pro752=) c.6341C= (p.Pro2114=) c.5705C= (p.Pro1902=) c.2495C= (p.Pro832=) | |
5 | g.177294129C>G | CA362325656 | NSD1 | c.5888C>G (p.Pro1963Arg) c.1403C>G (p.Pro468Arg) n.6344C>G n.1177C>G c.6452C>G (p.Pro2151Arg) n.6158C>G c.6761C>G (p.Pro2254Arg) c.5954C>G (p.Pro1985Arg) c.2255C>G (p.Pro752Arg) c.6341C>G (p.Pro2114Arg) c.5705C>G (p.Pro1902Arg) c.2495C>G (p.Pro832Arg) | |
5 | g.177294129C>T | CA362325658 | NSD1 | c.5888C>T (p.Pro1963Leu) c.1403C>T (p.Pro468Leu) n.6344C>T n.1177C>T c.6452C>T (p.Pro2151Leu) n.6158C>T c.6761C>T (p.Pro2254Leu) c.5954C>T (p.Pro1985Leu) c.2255C>T (p.Pro752Leu) c.6341C>T (p.Pro2114Leu) c.5705C>T (p.Pro1902Leu) c.2495C>T (p.Pro832Leu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294130T>A | CA447961816 | NSD1 | c.5889T>A (p.Pro1963=) c.1404T>A (p.Pro468=) n.6345T>A n.1178T>A c.6453T>A (p.Pro2151=) n.6159T>A c.6762T>A (p.Pro2254=) c.5955T>A (p.Pro1985=) c.2256T>A (p.Pro752=) c.6342T>A (p.Pro2114=) c.5706T>A (p.Pro1902=) c.2496T>A (p.Pro832=) | |
5 | g.177294130T>C | CA447961817 | NSD1 | c.5889T>C (p.Pro1963=) c.1404T>C (p.Pro468=) n.6345T>C n.1178T>C c.6453T>C (p.Pro2151=) n.6159T>C c.6762T>C (p.Pro2254=) c.5955T>C (p.Pro1985=) c.2256T>C (p.Pro752=) c.6342T>C (p.Pro2114=) c.5706T>C (p.Pro1902=) c.2496T>C (p.Pro832=) | |
5 | g.177294130T>G | CA447961818 | NSD1 | c.5889T>G (p.Pro1963=) c.1404T>G (p.Pro468=) n.6345T>G n.1178T>G c.6453T>G (p.Pro2151=) n.6159T>G c.6762T>G (p.Pro2254=) c.5955T>G (p.Pro1985=) c.2256T>G (p.Pro752=) c.6342T>G (p.Pro2114=) c.5706T>G (p.Pro1902=) c.2496T>G (p.Pro832=) | |
5 | g.177294131C>A | CA362325662 | NSD1 | c.5890C>A (p.Pro1964Thr) c.1405C>A (p.Pro469Thr) n.6346C>A n.1179C>A c.6454C>A (p.Pro2152Thr) n.6160C>A c.6763C>A (p.Pro2255Thr) c.5956C>A (p.Pro1986Thr) c.2257C>A (p.Pro753Thr) c.6343C>A (p.Pro2115Thr) c.5707C>A (p.Pro1903Thr) c.2497C>A (p.Pro833Thr) | |
5 | g.177294131C>G | CA362325669 | NSD1 | c.5890C>G (p.Pro1964Ala) c.1405C>G (p.Pro469Ala) n.6346C>G n.1179C>G c.6454C>G (p.Pro2152Ala) n.6160C>G c.6763C>G (p.Pro2255Ala) c.5956C>G (p.Pro1986Ala) c.2257C>G (p.Pro753Ala) c.6343C>G (p.Pro2115Ala) c.5707C>G (p.Pro1903Ala) c.2497C>G (p.Pro833Ala) | gnomAD v4 |
5 | g.177294131C>T | CA362325672 | NSD1 | c.5890C>T (p.Pro1964Ser) c.1405C>T (p.Pro469Ser) n.6346C>T n.1179C>T c.6454C>T (p.Pro2152Ser) n.6160C>T c.6763C>T (p.Pro2255Ser) c.5956C>T (p.Pro1986Ser) c.2257C>T (p.Pro753Ser) c.6343C>T (p.Pro2115Ser) c.5707C>T (p.Pro1903Ser) c.2497C>T (p.Pro833Ser) | |
5 | g.177294132C>A | CA362325675 | NSD1 | c.5891C>A (p.Pro1964His) c.1406C>A (p.Pro469His) n.6347C>A n.1180C>A c.6455C>A (p.Pro2152His) n.6161C>A c.6764C>A (p.Pro2255His) c.5957C>A (p.Pro1986His) c.2258C>A (p.Pro753His) c.6344C>A (p.Pro2115His) c.5708C>A (p.Pro1903His) c.2498C>A (p.Pro833His) | |
5 | g.177294132C>G | CA362325678 | NSD1 | c.5891C>G (p.Pro1964Arg) c.1406C>G (p.Pro469Arg) n.6347C>G n.1180C>G c.6455C>G (p.Pro2152Arg) n.6161C>G c.6764C>G (p.Pro2255Arg) c.5957C>G (p.Pro1986Arg) c.2258C>G (p.Pro753Arg) c.6344C>G (p.Pro2115Arg) c.5708C>G (p.Pro1903Arg) c.2498C>G (p.Pro833Arg) | |
5 | g.177294132C>T | CA362325684 | NSD1 | c.5891C>T (p.Pro1964Leu) c.1406C>T (p.Pro469Leu) n.6347C>T n.1180C>T c.6455C>T (p.Pro2152Leu) n.6161C>T c.6764C>T (p.Pro2255Leu) c.5957C>T (p.Pro1986Leu) c.2258C>T (p.Pro753Leu) c.6344C>T (p.Pro2115Leu) c.5708C>T (p.Pro1903Leu) c.2498C>T (p.Pro833Leu) | |
5 | g.177294133T>A | CA447961822 | NSD1 | c.5892T>A (p.Pro1964=) c.1407T>A (p.Pro469=) n.6348T>A n.1181T>A c.6456T>A (p.Pro2152=) n.6162T>A c.6765T>A (p.Pro2255=) c.5958T>A (p.Pro1986=) c.2259T>A (p.Pro753=) c.6345T>A (p.Pro2115=) c.5709T>A (p.Pro1903=) c.2499T>A (p.Pro833=) | |
5 | g.177294133T>C | CA3578038 | NSD1 | c.5892T>C (p.Pro1964=) c.1407T>C (p.Pro469=) n.6348T>C n.1181T>C c.6456T>C (p.Pro2152=) n.6162T>C c.6765T>C (p.Pro2255=) c.5958T>C (p.Pro1986=) c.2259T>C (p.Pro753=) c.6345T>C (p.Pro2115=) c.5709T>C (p.Pro1903=) c.2499T>C (p.Pro833=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294133T>G | CA447961824 | NSD1 | c.5892T>G (p.Pro1964=) c.1407T>G (p.Pro469=) n.6348T>G n.1181T>G c.6456T>G (p.Pro2152=) n.6162T>G c.6765T>G (p.Pro2255=) c.5958T>G (p.Pro1986=) c.2259T>G (p.Pro753=) c.6345T>G (p.Pro2115=) c.5709T>G (p.Pro1903=) c.2499T>G (p.Pro833=) | |
5 | g.177294133T= | CA1603535790 | NSD1 | c.5892T= (p.Pro1964=) c.1407T= (p.Pro469=) n.6348T= n.1181T= c.6456T= (p.Pro2152=) n.6162T= c.6765T= (p.Pro2255=) c.5958T= (p.Pro1986=) c.2259T= (p.Pro753=) c.6345T= (p.Pro2115=) c.5709T= (p.Pro1903=) c.2499T= (p.Pro833=) | |
5 | g.177294134G>A | CA362325693 | NSD1 | c.5893G>A (p.Ala1965Thr) c.1408G>A (p.Ala470Thr) n.6349G>A n.1182G>A c.6457G>A (p.Ala2153Thr) n.6163G>A c.6766G>A (p.Ala2256Thr) c.5959G>A (p.Ala1987Thr) c.2260G>A (p.Ala754Thr) c.6346G>A (p.Ala2116Thr) c.5710G>A (p.Ala1904Thr) c.2500G>A (p.Ala834Thr) | |
5 | g.177294134G>C | CA362325701 | NSD1 | c.5893G>C (p.Ala1965Pro) c.1408G>C (p.Ala470Pro) n.6349G>C n.1182G>C c.6457G>C (p.Ala2153Pro) n.6163G>C c.6766G>C (p.Ala2256Pro) c.5959G>C (p.Ala1987Pro) c.2260G>C (p.Ala754Pro) c.6346G>C (p.Ala2116Pro) c.5710G>C (p.Ala1904Pro) c.2500G>C (p.Ala834Pro) | |
5 | g.177294134G>T | CA362325697 | NSD1 | c.5893G>T (p.Ala1965Ser) c.1408G>T (p.Ala470Ser) n.6349G>T n.1182G>T c.6457G>T (p.Ala2153Ser) n.6163G>T c.6766G>T (p.Ala2256Ser) c.5959G>T (p.Ala1987Ser) c.2260G>T (p.Ala754Ser) c.6346G>T (p.Ala2116Ser) c.5710G>T (p.Ala1904Ser) c.2500G>T (p.Ala834Ser) | |
5 | g.177294135C>A | CA362325705 | NSD1 | c.5894C>A (p.Ala1965Asp) c.1409C>A (p.Ala470Asp) n.6350C>A n.1183C>A c.6458C>A (p.Ala2153Asp) n.6164C>A c.6767C>A (p.Ala2256Asp) c.5960C>A (p.Ala1987Asp) c.2261C>A (p.Ala754Asp) c.6347C>A (p.Ala2116Asp) c.5711C>A (p.Ala1904Asp) c.2501C>A (p.Ala834Asp) | dbSNP |
5 | g.177294135C>G | CA362325714 | NSD1 | c.5894C>G (p.Ala1965Gly) c.1409C>G (p.Ala470Gly) n.6350C>G n.1183C>G c.6458C>G (p.Ala2153Gly) n.6164C>G c.6767C>G (p.Ala2256Gly) c.5960C>G (p.Ala1987Gly) c.2261C>G (p.Ala754Gly) c.6347C>G (p.Ala2116Gly) c.5711C>G (p.Ala1904Gly) c.2501C>G (p.Ala834Gly) | ClinVar dbSNP |
5 | g.177294135C>T | CA362325717 | NSD1 | c.5894C>T (p.Ala1965Val) c.1409C>T (p.Ala470Val) n.6350C>T n.1183C>T c.6458C>T (p.Ala2153Val) n.6164C>T c.6767C>T (p.Ala2256Val) c.5960C>T (p.Ala1987Val) c.2261C>T (p.Ala754Val) c.6347C>T (p.Ala2116Val) c.5711C>T (p.Ala1904Val) c.2501C>T (p.Ala834Val) | dbSNP |
5 | g.177294136T>A | CA447961826 | NSD1 | c.5895T>A (p.Ala1965=) c.1410T>A (p.Ala470=) n.6351T>A n.1184T>A c.6459T>A (p.Ala2153=) n.6165T>A c.6768T>A (p.Ala2256=) c.5961T>A (p.Ala1987=) c.2262T>A (p.Ala754=) c.6348T>A (p.Ala2116=) c.5712T>A (p.Ala1904=) c.2502T>A (p.Ala834=) | |
5 | g.177294136T>C | CA447961827 | NSD1 | c.5895T>C (p.Ala1965=) c.1410T>C (p.Ala470=) n.6351T>C n.1184T>C c.6459T>C (p.Ala2153=) n.6165T>C c.6768T>C (p.Ala2256=) c.5961T>C (p.Ala1987=) c.2262T>C (p.Ala754=) c.6348T>C (p.Ala2116=) c.5712T>C (p.Ala1904=) c.2502T>C (p.Ala834=) | |
5 | g.177294136T>G | CA447961829 | NSD1 | c.5895T>G (p.Ala1965=) c.1410T>G (p.Ala470=) n.6351T>G n.1184T>G c.6459T>G (p.Ala2153=) n.6165T>G c.6768T>G (p.Ala2256=) c.5961T>G (p.Ala1987=) c.2262T>G (p.Ala754=) c.6348T>G (p.Ala2116=) c.5712T>G (p.Ala1904=) c.2502T>G (p.Ala834=) | |
5 | g.177294137G>A | CA362325723 | NSD1 | c.5896G>A (p.Asp1966Asn) c.1411G>A (p.Asp471Asn) n.6352G>A n.1185G>A c.6460G>A (p.Asp2154Asn) n.6166G>A c.6769G>A (p.Asp2257Asn) c.5962G>A (p.Asp1988Asn) c.2263G>A (p.Asp755Asn) c.6349G>A (p.Asp2117Asn) c.5713G>A (p.Asp1905Asn) c.2503G>A (p.Asp835Asn) | |
5 | g.177294137G>C | CA362325724 | NSD1 | c.5896G>C (p.Asp1966His) c.1411G>C (p.Asp471His) n.6352G>C n.1185G>C c.6460G>C (p.Asp2154His) n.6166G>C c.6769G>C (p.Asp2257His) c.5962G>C (p.Asp1988His) c.2263G>C (p.Asp755His) c.6349G>C (p.Asp2117His) c.5713G>C (p.Asp1905His) c.2503G>C (p.Asp835His) | |
5 | g.177294137G>T | CA362325728 | NSD1 | c.5896G>T (p.Asp1966Tyr) c.1411G>T (p.Asp471Tyr) n.6352G>T n.1185G>T c.6460G>T (p.Asp2154Tyr) n.6166G>T c.6769G>T (p.Asp2257Tyr) c.5962G>T (p.Asp1988Tyr) c.2263G>T (p.Asp755Tyr) c.6349G>T (p.Asp2117Tyr) c.5713G>T (p.Asp1905Tyr) c.2503G>T (p.Asp835Tyr) | gnomAD v4 |
5 | g.177294138A= | CA1603535791 | NSD1 | c.5897A= (p.Asp1966=) c.1412A= (p.Asp471=) n.6353A= n.1186A= c.6461A= (p.Asp2154=) n.6167A= c.6770A= (p.Asp2257=) c.5963A= (p.Asp1988=) c.2264A= (p.Asp755=) c.6350A= (p.Asp2117=) c.5714A= (p.Asp1905=) c.2504A= (p.Asp835=) | |
5 | g.177294138A>C | CA362325734 | NSD1 | c.5897A>C (p.Asp1966Ala) c.1412A>C (p.Asp471Ala) n.6353A>C n.1186A>C c.6461A>C (p.Asp2154Ala) n.6167A>C c.6770A>C (p.Asp2257Ala) c.5963A>C (p.Asp1988Ala) c.2264A>C (p.Asp755Ala) c.6350A>C (p.Asp2117Ala) c.5714A>C (p.Asp1905Ala) c.2504A>C (p.Asp835Ala) | |
5 | g.177294138A>G | CA362325738 | NSD1 | c.5897A>G (p.Asp1966Gly) c.1412A>G (p.Asp471Gly) n.6353A>G n.1186A>G c.6461A>G (p.Asp2154Gly) n.6167A>G c.6770A>G (p.Asp2257Gly) c.5963A>G (p.Asp1988Gly) c.2264A>G (p.Asp755Gly) c.6350A>G (p.Asp2117Gly) c.5714A>G (p.Asp1905Gly) c.2504A>G (p.Asp835Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294138A>T | CA362325743 | NSD1 | c.5897A>T (p.Asp1966Val) c.1412A>T (p.Asp471Val) n.6353A>T n.1186A>T c.6461A>T (p.Asp2154Val) n.6167A>T c.6770A>T (p.Asp2257Val) c.5963A>T (p.Asp1988Val) c.2264A>T (p.Asp755Val) c.6350A>T (p.Asp2117Val) c.5714A>T (p.Asp1905Val) c.2504A>T (p.Asp835Val) | dbSNP |
5 | g.177294139C>A | CA362325746 | NSD1 | c.5898C>A (p.Asp1966Glu) c.1413C>A (p.Asp471Glu) n.6354C>A n.1187C>A c.6462C>A (p.Asp2154Glu) n.6168C>A c.6771C>A (p.Asp2257Glu) c.5964C>A (p.Asp1988Glu) c.2265C>A (p.Asp755Glu) c.6351C>A (p.Asp2117Glu) c.5715C>A (p.Asp1905Glu) c.2505C>A (p.Asp835Glu) | |
5 | g.177294139C>G | CA362325750 | NSD1 | c.5898C>G (p.Asp1966Glu) c.1413C>G (p.Asp471Glu) n.6354C>G n.1187C>G c.6462C>G (p.Asp2154Glu) n.6168C>G c.6771C>G (p.Asp2257Glu) c.5964C>G (p.Asp1988Glu) c.2265C>G (p.Asp755Glu) c.6351C>G (p.Asp2117Glu) c.5715C>G (p.Asp1905Glu) c.2505C>G (p.Asp835Glu) | |
5 | g.177294139C>T | CA447961833 | NSD1 | c.5898C>T (p.Asp1966=) c.1413C>T (p.Asp471=) n.6354C>T n.1187C>T c.6462C>T (p.Asp2154=) n.6168C>T c.6771C>T (p.Asp2257=) c.5964C>T (p.Asp1988=) c.2265C>T (p.Asp755=) c.6351C>T (p.Asp2117=) c.5715C>T (p.Asp1905=) c.2505C>T (p.Asp835=) | |
5 | g.177294140A>C | CA362325760 | NSD1 | c.5899A>C (p.Thr1967Pro) c.1414A>C (p.Thr472Pro) n.6355A>C n.1188A>C c.6463A>C (p.Thr2155Pro) n.6169A>C c.6772A>C (p.Thr2258Pro) c.5965A>C (p.Thr1989Pro) c.2266A>C (p.Thr756Pro) c.6352A>C (p.Thr2118Pro) c.5716A>C (p.Thr1906Pro) c.2506A>C (p.Thr836Pro) | gnomAD v4 |
5 | g.177294140A>G | CA362325758 | NSD1 | c.5899A>G (p.Thr1967Ala) c.1414A>G (p.Thr472Ala) n.6355A>G n.1188A>G c.6463A>G (p.Thr2155Ala) n.6169A>G c.6772A>G (p.Thr2258Ala) c.5965A>G (p.Thr1989Ala) c.2266A>G (p.Thr756Ala) c.6352A>G (p.Thr2118Ala) c.5716A>G (p.Thr1906Ala) c.2506A>G (p.Thr836Ala) | |
5 | g.177294140A>T | CA362325754 | NSD1 | c.5899A>T (p.Thr1967Ser) c.1414A>T (p.Thr472Ser) n.6355A>T n.1188A>T c.6463A>T (p.Thr2155Ser) n.6169A>T c.6772A>T (p.Thr2258Ser) c.5965A>T (p.Thr1989Ser) c.2266A>T (p.Thr756Ser) c.6352A>T (p.Thr2118Ser) c.5716A>T (p.Thr1906Ser) c.2506A>T (p.Thr836Ser) | |
5 | g.177294141C>A | CA362325769 | NSD1 | c.5900C>A (p.Thr1967Asn) c.1415C>A (p.Thr472Asn) n.6356C>A n.1189C>A c.6464C>A (p.Thr2155Asn) n.6170C>A c.6773C>A (p.Thr2258Asn) c.5966C>A (p.Thr1989Asn) c.2267C>A (p.Thr756Asn) c.6353C>A (p.Thr2118Asn) c.5717C>A (p.Thr1906Asn) c.2507C>A (p.Thr836Asn) | |
5 | g.177294141C>G | CA362325764 | NSD1 | c.5900C>G (p.Thr1967Ser) c.1415C>G (p.Thr472Ser) n.6356C>G n.1189C>G c.6464C>G (p.Thr2155Ser) n.6170C>G c.6773C>G (p.Thr2258Ser) c.5966C>G (p.Thr1989Ser) c.2267C>G (p.Thr756Ser) c.6353C>G (p.Thr2118Ser) c.5717C>G (p.Thr1906Ser) c.2507C>G (p.Thr836Ser) | |
5 | g.177294141C>T | CA362325767 | NSD1 | c.5900C>T (p.Thr1967Ile) c.1415C>T (p.Thr472Ile) n.6356C>T n.1189C>T c.6464C>T (p.Thr2155Ile) n.6170C>T c.6773C>T (p.Thr2258Ile) c.5966C>T (p.Thr1989Ile) c.2267C>T (p.Thr756Ile) c.6353C>T (p.Thr2118Ile) c.5717C>T (p.Thr1906Ile) c.2507C>T (p.Thr836Ile) | |
5 | g.177294142C>A | CA447961840 | NSD1 | c.5901C>A (p.Thr1967=) c.1416C>A (p.Thr472=) n.6357C>A n.1190C>A c.6465C>A (p.Thr2155=) n.6171C>A c.6774C>A (p.Thr2258=) c.5967C>A (p.Thr1989=) c.2268C>A (p.Thr756=) c.6354C>A (p.Thr2118=) c.5718C>A (p.Thr1906=) c.2508C>A (p.Thr836=) | gnomAD v4 |
5 | g.177294142C>G | CA447961837 | NSD1 | c.5901C>G (p.Thr1967=) c.1416C>G (p.Thr472=) n.6357C>G n.1190C>G c.6465C>G (p.Thr2155=) n.6171C>G c.6774C>G (p.Thr2258=) c.5967C>G (p.Thr1989=) c.2268C>G (p.Thr756=) c.6354C>G (p.Thr2118=) c.5718C>G (p.Thr1906=) c.2508C>G (p.Thr836=) | |
5 | g.177294142C>T | CA447961838 | NSD1 | c.5901C>T (p.Thr1967=) c.1416C>T (p.Thr472=) n.6357C>T n.1190C>T c.6465C>T (p.Thr2155=) n.6171C>T c.6774C>T (p.Thr2258=) c.5967C>T (p.Thr1989=) c.2268C>T (p.Thr756=) c.6354C>T (p.Thr2118=) c.5718C>T (p.Thr1906=) c.2508C>T (p.Thr836=) | dbSNP |
5 | g.177294143A>C | CA362325774 | NSD1 | c.5902A>C (p.Asn1968His) c.1417A>C (p.Asn473His) n.6358A>C n.1191A>C c.6466A>C (p.Asn2156His) n.6172A>C c.6775A>C (p.Asn2259His) c.5968A>C (p.Asn1990His) c.2269A>C (p.Asn757His) c.6355A>C (p.Asn2119His) c.5719A>C (p.Asn1907His) c.2509A>C (p.Asn837His) | |
5 | g.177294143A>G | CA362325779 | NSD1 | c.5902A>G (p.Asn1968Asp) c.1417A>G (p.Asn473Asp) n.6358A>G n.1191A>G c.6466A>G (p.Asn2156Asp) n.6172A>G c.6775A>G (p.Asn2259Asp) c.5968A>G (p.Asn1990Asp) c.2269A>G (p.Asn757Asp) c.6355A>G (p.Asn2119Asp) c.5719A>G (p.Asn1907Asp) c.2509A>G (p.Asn837Asp) | |
5 | g.177294143A>T | CA362325784 | NSD1 | c.5902A>T (p.Asn1968Tyr) c.1417A>T (p.Asn473Tyr) n.6358A>T n.1191A>T c.6466A>T (p.Asn2156Tyr) n.6172A>T c.6775A>T (p.Asn2259Tyr) c.5968A>T (p.Asn1990Tyr) c.2269A>T (p.Asn757Tyr) c.6355A>T (p.Asn2119Tyr) c.5719A>T (p.Asn1907Tyr) c.2509A>T (p.Asn837Tyr) |