Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
5 | g.177294144A= | CA1603535793 | NSD1 | c.5903A= (p.Asn1968=) c.1418A= (p.Asn473=) n.6359A= n.1192A= c.6467A= (p.Asn2156=) n.6173A= c.6776A= (p.Asn2259=) c.5969A= (p.Asn1990=) c.2270A= (p.Asn757=) c.6356A= (p.Asn2119=) c.5720A= (p.Asn1907=) c.2510A= (p.Asn837=) | |
5 | g.177294144A>C | CA362325787 | NSD1 | c.5903A>C (p.Asn1968Thr) c.1418A>C (p.Asn473Thr) n.6359A>C n.1192A>C c.6467A>C (p.Asn2156Thr) n.6173A>C c.6776A>C (p.Asn2259Thr) c.5969A>C (p.Asn1990Thr) c.2270A>C (p.Asn757Thr) c.6356A>C (p.Asn2119Thr) c.5720A>C (p.Asn1907Thr) c.2510A>C (p.Asn837Thr) | |
5 | g.177294144A>G | CA3578039 | NSD1 | c.5903A>G (p.Asn1968Ser) c.1418A>G (p.Asn473Ser) n.6359A>G n.1192A>G c.6467A>G (p.Asn2156Ser) n.6173A>G c.6776A>G (p.Asn2259Ser) c.5969A>G (p.Asn1990Ser) c.2270A>G (p.Asn757Ser) c.6356A>G (p.Asn2119Ser) c.5720A>G (p.Asn1907Ser) c.2510A>G (p.Asn837Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294144A>T | CA362325793 | NSD1 | c.5903A>T (p.Asn1968Ile) c.1418A>T (p.Asn473Ile) n.6359A>T n.1192A>T c.6467A>T (p.Asn2156Ile) n.6173A>T c.6776A>T (p.Asn2259Ile) c.5969A>T (p.Asn1990Ile) c.2270A>T (p.Asn757Ile) c.6356A>T (p.Asn2119Ile) c.5720A>T (p.Asn1907Ile) c.2510A>T (p.Asn837Ile) | |
5 | g.177294145C>A | CA362325797 | NSD1 | c.5904C>A (p.Asn1968Lys) c.1419C>A (p.Asn473Lys) n.6360C>A n.1193C>A c.6468C>A (p.Asn2156Lys) n.6174C>A c.6777C>A (p.Asn2259Lys) c.5970C>A (p.Asn1990Lys) c.2271C>A (p.Asn757Lys) c.6357C>A (p.Asn2119Lys) c.5721C>A (p.Asn1907Lys) c.2511C>A (p.Asn837Lys) | |
5 | g.177294145C>G | CA362325801 | NSD1 | c.5904C>G (p.Asn1968Lys) c.1419C>G (p.Asn473Lys) n.6360C>G n.1193C>G c.6468C>G (p.Asn2156Lys) n.6174C>G c.6777C>G (p.Asn2259Lys) c.5970C>G (p.Asn1990Lys) c.2271C>G (p.Asn757Lys) c.6357C>G (p.Asn2119Lys) c.5721C>G (p.Asn1907Lys) c.2511C>G (p.Asn837Lys) | |
5 | g.177294145C>T | CA447961843 | NSD1 | c.5904C>T (p.Asn1968=) c.1419C>T (p.Asn473=) n.6360C>T n.1193C>T c.6468C>T (p.Asn2156=) n.6174C>T c.6777C>T (p.Asn2259=) c.5970C>T (p.Asn1990=) c.2271C>T (p.Asn757=) c.6357C>T (p.Asn2119=) c.5721C>T (p.Asn1907=) c.2511C>T (p.Asn837=) | dbSNP |
5 | g.177294146C>A | CA362325809 | NSD1 | c.5905C>A (p.Gln1969Lys) c.1420C>A (p.Gln474Lys) n.6361C>A n.1194C>A c.6469C>A (p.Gln2157Lys) n.6175C>A c.6778C>A (p.Gln2260Lys) c.5971C>A (p.Gln1991Lys) c.2272C>A (p.Gln758Lys) c.6358C>A (p.Gln2120Lys) c.5722C>A (p.Gln1908Lys) c.2512C>A (p.Gln838Lys) | |
5 | g.177294146C= | CA1603535796 | NSD1 | c.5905C= (p.Gln1969=) c.1420C= (p.Gln474=) n.6361C= n.1194C= c.6469C= (p.Gln2157=) n.6175C= c.6778C= (p.Gln2260=) c.5971C= (p.Gln1991=) c.2272C= (p.Gln758=) c.6358C= (p.Gln2120=) c.5722C= (p.Gln1908=) c.2512C= (p.Gln838=) | |
5 | g.177294146C>G | CA362325812 | NSD1 | c.5905C>G (p.Gln1969Glu) c.1420C>G (p.Gln474Glu) n.6361C>G n.1194C>G c.6469C>G (p.Gln2157Glu) n.6175C>G c.6778C>G (p.Gln2260Glu) c.5971C>G (p.Gln1991Glu) c.2272C>G (p.Gln758Glu) c.6358C>G (p.Gln2120Glu) c.5722C>G (p.Gln1908Glu) c.2512C>G (p.Gln838Glu) | |
5 | g.177294146C>T | CA362325818 | NSD1 | c.5905C>T (p.Gln1969Ter) c.1420C>T (p.Gln474Ter) n.6361C>T n.1194C>T c.6469C>T (p.Gln2157Ter) n.6175C>T c.6778C>T (p.Gln2260Ter) c.5971C>T (p.Gln1991Ter) c.2272C>T (p.Gln758Ter) c.6358C>T (p.Gln2120Ter) c.5722C>T (p.Gln1908Ter) c.2512C>T (p.Gln838Ter) | dbSNP gnomAD v2 |
5 | g.177294147A>C | CA362325832 | NSD1 | c.5906A>C (p.Gln1969Pro) c.1421A>C (p.Gln474Pro) n.6362A>C n.1195A>C c.6470A>C (p.Gln2157Pro) n.6176A>C c.6779A>C (p.Gln2260Pro) c.5972A>C (p.Gln1991Pro) c.2273A>C (p.Gln758Pro) c.6359A>C (p.Gln2120Pro) c.5723A>C (p.Gln1908Pro) c.2513A>C (p.Gln838Pro) | |
5 | g.177294147A>G | CA362325825 | NSD1 | c.5906A>G (p.Gln1969Arg) c.1421A>G (p.Gln474Arg) n.6362A>G n.1195A>G c.6470A>G (p.Gln2157Arg) n.6176A>G c.6779A>G (p.Gln2260Arg) c.5972A>G (p.Gln1991Arg) c.2273A>G (p.Gln758Arg) c.6359A>G (p.Gln2120Arg) c.5723A>G (p.Gln1908Arg) c.2513A>G (p.Gln838Arg) | gnomAD v4 |
5 | g.177294147A>T | CA362325829 | NSD1 | c.5906A>T (p.Gln1969Leu) c.1421A>T (p.Gln474Leu) n.6362A>T n.1195A>T c.6470A>T (p.Gln2157Leu) n.6176A>T c.6779A>T (p.Gln2260Leu) c.5972A>T (p.Gln1991Leu) c.2273A>T (p.Gln758Leu) c.6359A>T (p.Gln2120Leu) c.5723A>T (p.Gln1908Leu) c.2513A>T (p.Gln838Leu) | |
5 | g.177294148G>A | CA447961844 | NSD1 | c.5907G>A (p.Gln1969=) c.1422G>A (p.Gln474=) n.6363G>A n.1196G>A c.6471G>A (p.Gln2157=) n.6177G>A c.6780G>A (p.Gln2260=) c.5973G>A (p.Gln1991=) c.2274G>A (p.Gln758=) c.6360G>A (p.Gln2120=) c.5724G>A (p.Gln1908=) c.2514G>A (p.Gln838=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294148G>C | CA362325837 | NSD1 | c.5907G>C (p.Gln1969His) c.1422G>C (p.Gln474His) n.6363G>C n.1196G>C c.6471G>C (p.Gln2157His) n.6177G>C c.6780G>C (p.Gln2260His) c.5973G>C (p.Gln1991His) c.2274G>C (p.Gln758His) c.6360G>C (p.Gln2120His) c.5724G>C (p.Gln1908His) c.2514G>C (p.Gln838His) | |
5 | g.177294148G= | CA1603535798 | NSD1 | c.5907G= (p.Gln1969=) c.1422G= (p.Gln474=) n.6363G= n.1196G= c.6471G= (p.Gln2157=) n.6177G= c.6780G= (p.Gln2260=) c.5973G= (p.Gln1991=) c.2274G= (p.Gln758=) c.6360G= (p.Gln2120=) c.5724G= (p.Gln1908=) c.2514G= (p.Gln838=) | |
5 | g.177294148G>T | CA362325844 | NSD1 | c.5907G>T (p.Gln1969His) c.1422G>T (p.Gln474His) n.6363G>T n.1196G>T c.6471G>T (p.Gln2157His) n.6177G>T c.6780G>T (p.Gln2260His) c.5973G>T (p.Gln1991His) c.2274G>T (p.Gln758His) c.6360G>T (p.Gln2120His) c.5724G>T (p.Gln1908His) c.2514G>T (p.Gln838His) | |
5 | g.177294149A>C | CA362325846 | NSD1 | c.5908A>C (p.Met1970Leu) c.1423A>C (p.Met475Leu) n.6364A>C n.1197A>C c.6472A>C (p.Met2158Leu) n.6178A>C c.6781A>C (p.Met2261Leu) c.5974A>C (p.Met1992Leu) c.2275A>C (p.Met759Leu) c.6361A>C (p.Met2121Leu) c.5725A>C (p.Met1909Leu) c.2515A>C (p.Met839Leu) | gnomAD v4 |
5 | g.177294149A>G | CA362325852 | NSD1 | c.5908A>G (p.Met1970Val) c.1423A>G (p.Met475Val) n.6364A>G n.1197A>G c.6472A>G (p.Met2158Val) n.6178A>G c.6781A>G (p.Met2261Val) c.5974A>G (p.Met1992Val) c.2275A>G (p.Met759Val) c.6361A>G (p.Met2121Val) c.5725A>G (p.Met1909Val) c.2515A>G (p.Met839Val) | gnomAD v4 |
5 | g.177294149A>T | CA362325856 | NSD1 | c.5908A>T (p.Met1970Leu) c.1423A>T (p.Met475Leu) n.6364A>T n.1197A>T c.6472A>T (p.Met2158Leu) n.6178A>T c.6781A>T (p.Met2261Leu) c.5974A>T (p.Met1992Leu) c.2275A>T (p.Met759Leu) c.6361A>T (p.Met2121Leu) c.5725A>T (p.Met1909Leu) c.2515A>T (p.Met839Leu) | |
5 | g.177294150T>A | CA362325860 | NSD1 | c.5909T>A (p.Met1970Lys) c.1424T>A (p.Met475Lys) n.6365T>A n.1198T>A c.6473T>A (p.Met2158Lys) n.6179T>A c.6782T>A (p.Met2261Lys) c.5975T>A (p.Met1992Lys) c.2276T>A (p.Met759Lys) c.6362T>A (p.Met2121Lys) c.5726T>A (p.Met1909Lys) c.2516T>A (p.Met839Lys) | |
5 | g.177294150T>C | CA149209 | NSD1 | c.5909T>C (p.Met1970Thr) c.1424T>C (p.Met475Thr) n.6365T>C n.1198T>C c.6473T>C (p.Met2158Thr) n.6179T>C c.6782T>C (p.Met2261Thr) c.5975T>C (p.Met1992Thr) c.2276T>C (p.Met759Thr) c.6362T>C (p.Met2121Thr) c.5726T>C (p.Met1909Thr) c.2516T>C (p.Met839Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294150T>G | CA362325867 | NSD1 | c.5909T>G (p.Met1970Arg) c.1424T>G (p.Met475Arg) n.6365T>G n.1198T>G c.6473T>G (p.Met2158Arg) n.6179T>G c.6782T>G (p.Met2261Arg) c.5975T>G (p.Met1992Arg) c.2276T>G (p.Met759Arg) c.6362T>G (p.Met2121Arg) c.5726T>G (p.Met1909Arg) c.2516T>G (p.Met839Arg) | |
5 | g.177294150T= | CA1603535825 | NSD1 | c.5909T= (p.Met1970=) c.1424T= (p.Met475=) n.6365T= n.1198T= c.6473T= (p.Met2158=) n.6179T= c.6782T= (p.Met2261=) c.5975T= (p.Met1992=) c.2276T= (p.Met759=) c.6362T= (p.Met2121=) c.5726T= (p.Met1909=) c.2516T= (p.Met839=) | |
5 | g.177294151G>A | CA362325871 | NSD1 | c.5910G>A (p.Met1970Ile) c.1425G>A (p.Met475Ile) n.6366G>A n.1199G>A c.6474G>A (p.Met2158Ile) n.6180G>A c.6783G>A (p.Met2261Ile) c.5976G>A (p.Met1992Ile) c.2277G>A (p.Met759Ile) c.6363G>A (p.Met2121Ile) c.5727G>A (p.Met1909Ile) c.2517G>A (p.Met839Ile) | gnomAD v4 |
5 | g.177294151G>C | CA362325872 | NSD1 | c.5910G>C (p.Met1970Ile) c.1425G>C (p.Met475Ile) n.6366G>C n.1199G>C c.6474G>C (p.Met2158Ile) n.6180G>C c.6783G>C (p.Met2261Ile) c.5976G>C (p.Met1992Ile) c.2277G>C (p.Met759Ile) c.6363G>C (p.Met2121Ile) c.5727G>C (p.Met1909Ile) c.2517G>C (p.Met839Ile) | |
5 | g.177294151G= | CA1603535831 | NSD1 | c.5910G= (p.Met1970=) c.1425G= (p.Met475=) n.6366G= n.1199G= c.6474G= (p.Met2158=) n.6180G= c.6783G= (p.Met2261=) c.5976G= (p.Met1992=) c.2277G= (p.Met759=) c.6363G= (p.Met2121=) c.5727G= (p.Met1909=) c.2517G= (p.Met839=) | |
5 | g.177294151G>T | CA362325873 | NSD1 | c.5910G>T (p.Met1970Ile) c.1425G>T (p.Met475Ile) n.6366G>T n.1199G>T c.6474G>T (p.Met2158Ile) n.6180G>T c.6783G>T (p.Met2261Ile) c.5976G>T (p.Met1992Ile) c.2277G>T (p.Met759Ile) c.6363G>T (p.Met2121Ile) c.5727G>T (p.Met1909Ile) c.2517G>T (p.Met839Ile) | dbSNP |
5 | g.177294152C>A | CA362325875 | NSD1 | c.5911C>A (p.Leu1971Met) c.1426C>A (p.Leu476Met) n.6367C>A n.1200C>A c.6475C>A (p.Leu2159Met) n.6181C>A c.6784C>A (p.Leu2262Met) c.5977C>A (p.Leu1993Met) c.2278C>A (p.Leu760Met) c.6364C>A (p.Leu2122Met) c.5728C>A (p.Leu1910Met) c.2518C>A (p.Leu840Met) | |
5 | g.177294152C= | CA1603535836 | NSD1 | c.5911C= (p.Leu1971=) c.1426C= (p.Leu476=) n.6367C= n.1200C= c.6475C= (p.Leu2159=) n.6181C= c.6784C= (p.Leu2262=) c.5977C= (p.Leu1993=) c.2278C= (p.Leu760=) c.6364C= (p.Leu2122=) c.5728C= (p.Leu1910=) c.2518C= (p.Leu840=) | |
5 | g.177294152C>G | CA362325878 | NSD1 | c.5911C>G (p.Leu1971Val) c.1426C>G (p.Leu476Val) n.6367C>G n.1200C>G c.6475C>G (p.Leu2159Val) n.6181C>G c.6784C>G (p.Leu2262Val) c.5977C>G (p.Leu1993Val) c.2278C>G (p.Leu760Val) c.6364C>G (p.Leu2122Val) c.5728C>G (p.Leu1910Val) c.2518C>G (p.Leu840Val) | |
5 | g.177294152C>T | CA447961845 | NSD1 | c.5911C>T (p.Leu1971=) c.1426C>T (p.Leu476=) n.6367C>T n.1200C>T c.6475C>T (p.Leu2159=) n.6181C>T c.6784C>T (p.Leu2262=) c.5977C>T (p.Leu1993=) c.2278C>T (p.Leu760=) c.6364C>T (p.Leu2122=) c.5728C>T (p.Leu1910=) c.2518C>T (p.Leu840=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294153T>A | CA362325894 | NSD1 | c.5912T>A (p.Leu1971Gln) c.1427T>A (p.Leu476Gln) n.6368T>A n.1201T>A c.6476T>A (p.Leu2159Gln) n.6182T>A c.6785T>A (p.Leu2262Gln) c.5978T>A (p.Leu1993Gln) c.2279T>A (p.Leu760Gln) c.6365T>A (p.Leu2122Gln) c.5729T>A (p.Leu1910Gln) c.2519T>A (p.Leu840Gln) | |
5 | g.177294153T>C | CA362325886 | NSD1 | c.5912T>C (p.Leu1971Pro) c.1427T>C (p.Leu476Pro) n.6368T>C n.1201T>C c.6476T>C (p.Leu2159Pro) n.6182T>C c.6785T>C (p.Leu2262Pro) c.5978T>C (p.Leu1993Pro) c.2279T>C (p.Leu760Pro) c.6365T>C (p.Leu2122Pro) c.5729T>C (p.Leu1910Pro) c.2519T>C (p.Leu840Pro) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294153T>G | CA362325882 | NSD1 | c.5912T>G (p.Leu1971Arg) c.1427T>G (p.Leu476Arg) n.6368T>G n.1201T>G c.6476T>G (p.Leu2159Arg) n.6182T>G c.6785T>G (p.Leu2262Arg) c.5978T>G (p.Leu1993Arg) c.2279T>G (p.Leu760Arg) c.6365T>G (p.Leu2122Arg) c.5729T>G (p.Leu1910Arg) c.2519T>G (p.Leu840Arg) | |
5 | g.177294153T= | CA1603535840 | NSD1 | c.5912T= (p.Leu1971=) c.1427T= (p.Leu476=) n.6368T= n.1201T= c.6476T= (p.Leu2159=) n.6182T= c.6785T= (p.Leu2262=) c.5978T= (p.Leu1993=) c.2279T= (p.Leu760=) c.6365T= (p.Leu2122=) c.5729T= (p.Leu1910=) c.2519T= (p.Leu840=) | |
5 | g.177294154G>A | CA447961846 | NSD1 | c.5913G>A (p.Leu1971=) c.1428G>A (p.Leu476=) n.6369G>A n.1202G>A c.6477G>A (p.Leu2159=) n.6183G>A c.6786G>A (p.Leu2262=) c.5979G>A (p.Leu1993=) c.2280G>A (p.Leu760=) c.6366G>A (p.Leu2122=) c.5730G>A (p.Leu1910=) c.2520G>A (p.Leu840=) | dbSNP |
5 | g.177294154G>C | CA447961847 | NSD1 | c.5913G>C (p.Leu1971=) c.1428G>C (p.Leu476=) n.6369G>C n.1202G>C c.6477G>C (p.Leu2159=) n.6183G>C c.6786G>C (p.Leu2262=) c.5979G>C (p.Leu1993=) c.2280G>C (p.Leu760=) c.6366G>C (p.Leu2122=) c.5730G>C (p.Leu1910=) c.2520G>C (p.Leu840=) | |
5 | g.177294154G= | CA1603535845 | NSD1 | c.5913G= (p.Leu1971=) c.1428G= (p.Leu476=) n.6369G= n.1202G= c.6477G= (p.Leu2159=) n.6183G= c.6786G= (p.Leu2262=) c.5979G= (p.Leu1993=) c.2280G= (p.Leu760=) c.6366G= (p.Leu2122=) c.5730G= (p.Leu1910=) c.2520G= (p.Leu840=) | |
5 | g.177294154G>T | CA3578040 | NSD1 | c.5913G>T (p.Leu1971=) c.1428G>T (p.Leu476=) n.6369G>T n.1202G>T c.6477G>T (p.Leu2159=) n.6183G>T c.6786G>T (p.Leu2262=) c.5979G>T (p.Leu1993=) c.2280G>T (p.Leu760=) c.6366G>T (p.Leu2122=) c.5730G>T (p.Leu1910=) c.2520G>T (p.Leu840=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294155T>A | CA3578041 | NSD1 | c.5914T>A (p.Ser1972Thr) c.1429T>A (p.Ser477Thr) n.6370T>A n.1203T>A c.6478T>A (p.Ser2160Thr) n.6184T>A c.6787T>A (p.Ser2263Thr) c.5980T>A (p.Ser1994Thr) c.2281T>A (p.Ser761Thr) c.6367T>A (p.Ser2123Thr) c.5731T>A (p.Ser1911Thr) c.2521T>A (p.Ser841Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294155T>C | CA362325905 | NSD1 | c.5914T>C (p.Ser1972Pro) c.1429T>C (p.Ser477Pro) n.6370T>C n.1203T>C c.6478T>C (p.Ser2160Pro) n.6184T>C c.6787T>C (p.Ser2263Pro) c.5980T>C (p.Ser1994Pro) c.2281T>C (p.Ser761Pro) c.6367T>C (p.Ser2123Pro) c.5731T>C (p.Ser1911Pro) c.2521T>C (p.Ser841Pro) | |
5 | g.177294155T>G | CA362325910 | NSD1 | c.5914T>G (p.Ser1972Ala) c.1429T>G (p.Ser477Ala) n.6370T>G n.1203T>G c.6478T>G (p.Ser2160Ala) n.6184T>G c.6787T>G (p.Ser2263Ala) c.5980T>G (p.Ser1994Ala) c.2281T>G (p.Ser761Ala) c.6367T>G (p.Ser2123Ala) c.5731T>G (p.Ser1911Ala) c.2521T>G (p.Ser841Ala) | |
5 | g.177294155T= | CA1603535848 | NSD1 | c.5914T= (p.Ser1972=) c.1429T= (p.Ser477=) n.6370T= n.1203T= c.6478T= (p.Ser2160=) n.6184T= c.6787T= (p.Ser2263=) c.5980T= (p.Ser1994=) c.2281T= (p.Ser761=) c.6367T= (p.Ser2123=) c.5731T= (p.Ser1911=) c.2521T= (p.Ser841=) | |
5 | g.177294156C>A | CA362325914 | NSD1 | c.5915C>A (p.Ser1972Ter) c.1430C>A (p.Ser477Ter) n.6371C>A n.1204C>A c.6479C>A (p.Ser2160Ter) n.6185C>A c.6788C>A (p.Ser2263Ter) c.5981C>A (p.Ser1994Ter) c.2282C>A (p.Ser761Ter) c.6368C>A (p.Ser2123Ter) c.5732C>A (p.Ser1911Ter) c.2522C>A (p.Ser841Ter) | dbSNP |
5 | g.177294156C= | CA1603535854 | NSD1 | c.5915C= (p.Ser1972=) c.1430C= (p.Ser477=) n.6371C= n.1204C= c.6479C= (p.Ser2160=) n.6185C= c.6788C= (p.Ser2263=) c.5981C= (p.Ser1994=) c.2282C= (p.Ser761=) c.6368C= (p.Ser2123=) c.5732C= (p.Ser1911=) c.2522C= (p.Ser841=) | |
5 | g.177294156C>G | CA362325915 | NSD1 | c.5915C>G (p.Ser1972Trp) c.1430C>G (p.Ser477Trp) n.6371C>G n.1204C>G c.6479C>G (p.Ser2160Trp) n.6185C>G c.6788C>G (p.Ser2263Trp) c.5981C>G (p.Ser1994Trp) c.2282C>G (p.Ser761Trp) c.6368C>G (p.Ser2123Trp) c.5732C>G (p.Ser1911Trp) c.2522C>G (p.Ser841Trp) | |
5 | g.177294156C>T | CA3578042 | NSD1 | c.5915C>T (p.Ser1972Leu) c.1430C>T (p.Ser477Leu) n.6371C>T n.1204C>T c.6479C>T (p.Ser2160Leu) n.6185C>T c.6788C>T (p.Ser2263Leu) c.5981C>T (p.Ser1994Leu) c.2282C>T (p.Ser761Leu) c.6368C>T (p.Ser2123Leu) c.5732C>T (p.Ser1911Leu) c.2522C>T (p.Ser841Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294157G>A | CA3578043 | NSD1 | c.5916G>A (p.Ser1972=) c.1431G>A (p.Ser477=) n.6372G>A n.1205G>A c.6480G>A (p.Ser2160=) n.6186G>A c.6789G>A (p.Ser2263=) c.5982G>A (p.Ser1994=) c.2283G>A (p.Ser761=) c.6369G>A (p.Ser2123=) c.5733G>A (p.Ser1911=) c.2523G>A (p.Ser841=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294157G>C | CA447961848 | NSD1 | c.5916G>C (p.Ser1972=) c.1431G>C (p.Ser477=) n.6372G>C n.1205G>C c.6480G>C (p.Ser2160=) n.6186G>C c.6789G>C (p.Ser2263=) c.5982G>C (p.Ser1994=) c.2283G>C (p.Ser761=) c.6369G>C (p.Ser2123=) c.5733G>C (p.Ser1911=) c.2523G>C (p.Ser841=) | |
5 | g.177294157G= | CA1603535861 | NSD1 | c.5916G= (p.Ser1972=) c.1431G= (p.Ser477=) n.6372G= n.1205G= c.6480G= (p.Ser2160=) n.6186G= c.6789G= (p.Ser2263=) c.5982G= (p.Ser1994=) c.2283G= (p.Ser761=) c.6369G= (p.Ser2123=) c.5733G= (p.Ser1911=) c.2523G= (p.Ser841=) | |
5 | g.177294157G>T | CA447961849 | NSD1 | c.5916G>T (p.Ser1972=) c.1431G>T (p.Ser477=) n.6372G>T n.1205G>T c.6480G>T (p.Ser2160=) n.6186G>T c.6789G>T (p.Ser2263=) c.5982G>T (p.Ser1994=) c.2283G>T (p.Ser761=) c.6369G>T (p.Ser2123=) c.5733G>T (p.Ser1911=) c.2523G>T (p.Ser841=) | |
5 | g.177294158C>A | CA362325924 | NSD1 | c.5917C>A (p.Leu1973Ile) c.1432C>A (p.Leu478Ile) n.6373C>A n.1206C>A c.6481C>A (p.Leu2161Ile) n.6187C>A c.6790C>A (p.Leu2264Ile) c.5983C>A (p.Leu1995Ile) c.2284C>A (p.Leu762Ile) c.6370C>A (p.Leu2124Ile) c.5734C>A (p.Leu1912Ile) c.2524C>A (p.Leu842Ile) | |
5 | g.177294158C>G | CA362325927 | NSD1 | c.5917C>G (p.Leu1973Val) c.1432C>G (p.Leu478Val) n.6373C>G n.1206C>G c.6481C>G (p.Leu2161Val) n.6187C>G c.6790C>G (p.Leu2264Val) c.5983C>G (p.Leu1995Val) c.2284C>G (p.Leu762Val) c.6370C>G (p.Leu2124Val) c.5734C>G (p.Leu1912Val) c.2524C>G (p.Leu842Val) | |
5 | g.177294158C>T | CA362325932 | NSD1 | c.5917C>T (p.Leu1973Phe) c.1432C>T (p.Leu478Phe) n.6373C>T n.1206C>T c.6481C>T (p.Leu2161Phe) n.6187C>T c.6790C>T (p.Leu2264Phe) c.5983C>T (p.Leu1995Phe) c.2284C>T (p.Leu762Phe) c.6370C>T (p.Leu2124Phe) c.5734C>T (p.Leu1912Phe) c.2524C>T (p.Leu842Phe) | |
5 | g.177294159T>A | CA362325935 | NSD1 | c.5918T>A (p.Leu1973His) c.1433T>A (p.Leu478His) n.6374T>A n.1207T>A c.6482T>A (p.Leu2161His) n.6188T>A c.6791T>A (p.Leu2264His) c.5984T>A (p.Leu1995His) c.2285T>A (p.Leu762His) c.6371T>A (p.Leu2124His) c.5735T>A (p.Leu1912His) c.2525T>A (p.Leu842His) | |
5 | g.177294159T>C | CA362325938 | NSD1 | c.5918T>C (p.Leu1973Pro) c.1433T>C (p.Leu478Pro) n.6374T>C n.1207T>C c.6482T>C (p.Leu2161Pro) n.6188T>C c.6791T>C (p.Leu2264Pro) c.5984T>C (p.Leu1995Pro) c.2285T>C (p.Leu762Pro) c.6371T>C (p.Leu2124Pro) c.5735T>C (p.Leu1912Pro) c.2525T>C (p.Leu842Pro) | |
5 | g.177294159T>G | CA362325940 | NSD1 | c.5918T>G (p.Leu1973Arg) c.1433T>G (p.Leu478Arg) n.6374T>G n.1207T>G c.6482T>G (p.Leu2161Arg) n.6188T>G c.6791T>G (p.Leu2264Arg) c.5984T>G (p.Leu1995Arg) c.2285T>G (p.Leu762Arg) c.6371T>G (p.Leu2124Arg) c.5735T>G (p.Leu1912Arg) c.2525T>G (p.Leu842Arg) | |
5 | g.177294160C>A | CA447961850 | NSD1 | c.5919C>A (p.Leu1973=) c.1434C>A (p.Leu478=) n.6375C>A n.1208C>A c.6483C>A (p.Leu2161=) n.6189C>A c.6792C>A (p.Leu2264=) c.5985C>A (p.Leu1995=) c.2286C>A (p.Leu762=) c.6372C>A (p.Leu2124=) c.5736C>A (p.Leu1912=) c.2526C>A (p.Leu842=) | |
5 | g.177294160C>G | CA447961851 | NSD1 | c.5919C>G (p.Leu1973=) c.1434C>G (p.Leu478=) n.6375C>G n.1208C>G c.6483C>G (p.Leu2161=) n.6189C>G c.6792C>G (p.Leu2264=) c.5985C>G (p.Leu1995=) c.2286C>G (p.Leu762=) c.6372C>G (p.Leu2124=) c.5736C>G (p.Leu1912=) c.2526C>G (p.Leu842=) | |
5 | g.177294160C>T | CA447961852 | NSD1 | c.5919C>T (p.Leu1973=) c.1434C>T (p.Leu478=) n.6375C>T n.1208C>T c.6483C>T (p.Leu2161=) n.6189C>T c.6792C>T (p.Leu2264=) c.5985C>T (p.Leu1995=) c.2286C>T (p.Leu762=) c.6372C>T (p.Leu2124=) c.5736C>T (p.Leu1912=) c.2526C>T (p.Leu842=) | gnomAD v4 |
5 | g.177294161T>A | CA362325955 | NSD1 | c.5920T>A (p.Ser1974Thr) c.1435T>A (p.Ser479Thr) n.6376T>A n.1209T>A c.6484T>A (p.Ser2162Thr) n.6190T>A c.6793T>A (p.Ser2265Thr) c.5986T>A (p.Ser1996Thr) c.2287T>A (p.Ser763Thr) c.6373T>A (p.Ser2125Thr) c.5737T>A (p.Ser1913Thr) c.2527T>A (p.Ser843Thr) | |
5 | g.177294161T>C | CA362325944 | NSD1 | c.5920T>C (p.Ser1974Pro) c.1435T>C (p.Ser479Pro) n.6376T>C n.1209T>C c.6484T>C (p.Ser2162Pro) n.6190T>C c.6793T>C (p.Ser2265Pro) c.5986T>C (p.Ser1996Pro) c.2287T>C (p.Ser763Pro) c.6373T>C (p.Ser2125Pro) c.5737T>C (p.Ser1913Pro) c.2527T>C (p.Ser843Pro) | |
5 | g.177294161T>G | CA362325948 | NSD1 | c.5920T>G (p.Ser1974Ala) c.1435T>G (p.Ser479Ala) n.6376T>G n.1209T>G c.6484T>G (p.Ser2162Ala) n.6190T>G c.6793T>G (p.Ser2265Ala) c.5986T>G (p.Ser1996Ala) c.2287T>G (p.Ser763Ala) c.6373T>G (p.Ser2125Ala) c.5737T>G (p.Ser1913Ala) c.2527T>G (p.Ser843Ala) | |
5 | g.177294162C>A | CA362325960 | NSD1 | c.5921C>A (p.Ser1974Tyr) c.1436C>A (p.Ser479Tyr) n.6377C>A n.1210C>A c.6485C>A (p.Ser2162Tyr) n.6191C>A c.6794C>A (p.Ser2265Tyr) c.5987C>A (p.Ser1996Tyr) c.2288C>A (p.Ser763Tyr) c.6374C>A (p.Ser2125Tyr) c.5738C>A (p.Ser1913Tyr) c.2528C>A (p.Ser843Tyr) | dbSNP |
5 | g.177294162C= | CA1603535868 | NSD1 | c.5921C= (p.Ser1974=) c.1436C= (p.Ser479=) n.6377C= n.1210C= c.6485C= (p.Ser2162=) n.6191C= c.6794C= (p.Ser2265=) c.5987C= (p.Ser1996=) c.2288C= (p.Ser763=) c.6374C= (p.Ser2125=) c.5738C= (p.Ser1913=) c.2528C= (p.Ser843=) | |
5 | g.177294162C>G | CA362325961 | NSD1 | c.5921C>G (p.Ser1974Cys) c.1436C>G (p.Ser479Cys) n.6377C>G n.1210C>G c.6485C>G (p.Ser2162Cys) n.6191C>G c.6794C>G (p.Ser2265Cys) c.5987C>G (p.Ser1996Cys) c.2288C>G (p.Ser763Cys) c.6374C>G (p.Ser2125Cys) c.5738C>G (p.Ser1913Cys) c.2528C>G (p.Ser843Cys) | |
5 | g.177294162C>T | CA362325962 | NSD1 | c.5921C>T (p.Ser1974Phe) c.1436C>T (p.Ser479Phe) n.6377C>T n.1210C>T c.6485C>T (p.Ser2162Phe) n.6191C>T c.6794C>T (p.Ser2265Phe) c.5987C>T (p.Ser1996Phe) c.2288C>T (p.Ser763Phe) c.6374C>T (p.Ser2125Phe) c.5738C>T (p.Ser1913Phe) c.2528C>T (p.Ser843Phe) | dbSNP COSMIC COSMIC |
5 | g.177294162_177294163insAAAAAAAA | CA2769563052 | NSD1 | c.5921_5922insAAAAAAAA (p.Ala1977ThrfsTer29) c.1436_1437insAAAAAAAA (p.Ala482ThrfsTer29) n.6377_6378insAAAAAAAA n.1210_1211insAAAAAAAA c.6485_6486insAAAAAAAA (p.Ala2165ThrfsTer29) n.6191_6192insAAAAAAAA c.6794_6795insAAAAAAAA (p.Ala2268ThrfsTer29) c.5987_5988insAAAAAAAA (p.Ala1999ThrfsTer29) c.2288_2289insAAAAAAAA (p.Ala766ThrfsTer29) c.6374_6375insAAAAAAAA (p.Ala2128ThrfsTer29) c.5738_5739insAAAAAAAA (p.Ala1916ThrfsTer29) c.2528_2529insAAAAAAAA (p.Ala846ThrfsTer29) | |
5 | g.177294163C>A | CA447961853 | NSD1 | c.5922C>A (p.Ser1974=) c.1437C>A (p.Ser479=) n.6378C>A n.1211C>A c.6486C>A (p.Ser2162=) n.6192C>A c.6795C>A (p.Ser2265=) c.5988C>A (p.Ser1996=) c.2289C>A (p.Ser763=) c.6375C>A (p.Ser2125=) c.5739C>A (p.Ser1913=) c.2529C>A (p.Ser843=) | |
5 | g.177294163C= | CA1603535872 | NSD1 | c.5922C= (p.Ser1974=) c.1437C= (p.Ser479=) n.6378C= n.1211C= c.6486C= (p.Ser2162=) n.6192C= c.6795C= (p.Ser2265=) c.5988C= (p.Ser1996=) c.2289C= (p.Ser763=) c.6375C= (p.Ser2125=) c.5739C= (p.Ser1913=) c.2529C= (p.Ser843=) | |
5 | g.177294163C>G | CA447961854 | NSD1 | c.5922C>G (p.Ser1974=) c.1437C>G (p.Ser479=) n.6378C>G n.1211C>G c.6486C>G (p.Ser2162=) n.6192C>G c.6795C>G (p.Ser2265=) c.5988C>G (p.Ser1996=) c.2289C>G (p.Ser763=) c.6375C>G (p.Ser2125=) c.5739C>G (p.Ser1913=) c.2529C>G (p.Ser843=) | |
5 | g.177294163C>T | CA3578044 | NSD1 | c.5922C>T (p.Ser1974=) c.1437C>T (p.Ser479=) n.6378C>T n.1211C>T c.6486C>T (p.Ser2162=) n.6192C>T c.6795C>T (p.Ser2265=) c.5988C>T (p.Ser1996=) c.2289C>T (p.Ser763=) c.6375C>T (p.Ser2125=) c.5739C>T (p.Ser1913=) c.2529C>T (p.Ser843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.177294164A= | CA1603535877 | NSD1 | c.5923A= (p.Lys1975=) c.1438A= (p.Lys480=) n.6379A= n.1212A= c.6487A= (p.Lys2163=) n.6193A= c.6796A= (p.Lys2266=) c.5989A= (p.Lys1997=) c.2290A= (p.Lys764=) c.6376A= (p.Lys2126=) c.5740A= (p.Lys1914=) c.2530A= (p.Lys844=) | |
5 | g.177294164A>C | CA362325967 | NSD1 | c.5923A>C (p.Lys1975Gln) c.1438A>C (p.Lys480Gln) n.6379A>C n.1212A>C c.6487A>C (p.Lys2163Gln) n.6193A>C c.6796A>C (p.Lys2266Gln) c.5989A>C (p.Lys1997Gln) c.2290A>C (p.Lys764Gln) c.6376A>C (p.Lys2126Gln) c.5740A>C (p.Lys1914Gln) c.2530A>C (p.Lys844Gln) | dbSNP |
5 | g.177294164A>G | CA223700 | NSD1 | c.5923A>G (p.Lys1975Glu) c.1438A>G (p.Lys480Glu) n.6379A>G n.1212A>G c.6487A>G (p.Lys2163Glu) n.6193A>G c.6796A>G (p.Lys2266Glu) c.5989A>G (p.Lys1997Glu) c.2290A>G (p.Lys764Glu) c.6376A>G (p.Lys2126Glu) c.5740A>G (p.Lys1914Glu) c.2530A>G (p.Lys844Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294164A>T | CA362325971 | NSD1 | c.5923A>T (p.Lys1975Ter) c.1438A>T (p.Lys480Ter) n.6379A>T n.1212A>T c.6487A>T (p.Lys2163Ter) n.6193A>T c.6796A>T (p.Lys2266Ter) c.5989A>T (p.Lys1997Ter) c.2290A>T (p.Lys764Ter) c.6376A>T (p.Lys2126Ter) c.5740A>T (p.Lys1914Ter) c.2530A>T (p.Lys844Ter) | |
5 | g.177294169dup | CA564898969 | NSD1 | c.5928dup (p.Ala1977SerfsTer13) c.1443dup (p.Ala482SerfsTer13) n.6384dup n.1217dup c.6492dup (p.Ala2165SerfsTer13) n.6198dup c.6801dup (p.Ala2268SerfsTer13) c.5994dup (p.Ala1999SerfsTer13) c.2295dup (p.Ala766SerfsTer13) c.6381dup (p.Ala2128SerfsTer13) c.5745dup (p.Ala1916SerfsTer13) c.2535dup (p.Ala846SerfsTer13) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.177294169del | CA645548645 | NSD1 | c.5928del (p.Ala1977LeufsTer26) c.1443del (p.Ala482LeufsTer26) n.6384del n.1217del c.6492del (p.Ala2165LeufsTer26) n.6198del c.6801del (p.Ala2268LeufsTer26) c.5994del (p.Ala1999LeufsTer26) c.2295del (p.Ala766LeufsTer26) c.6381del (p.Ala2128LeufsTer26) c.5745del (p.Ala1916LeufsTer26) c.2535del (p.Ala846LeufsTer26) | COSMIC COSMIC |
5 | g.177294165A>C | CA362325985 | NSD1 | c.5924A>C (p.Lys1975Thr) c.1439A>C (p.Lys480Thr) n.6380A>C n.1213A>C c.6488A>C (p.Lys2163Thr) n.6194A>C c.6797A>C (p.Lys2266Thr) c.5990A>C (p.Lys1997Thr) c.2291A>C (p.Lys764Thr) c.6377A>C (p.Lys2126Thr) c.5741A>C (p.Lys1914Thr) c.2531A>C (p.Lys844Thr) | |
5 | g.177294165A>G | CA362325987 | NSD1 | c.5924A>G (p.Lys1975Arg) c.1439A>G (p.Lys480Arg) n.6380A>G n.1213A>G c.6488A>G (p.Lys2163Arg) n.6194A>G c.6797A>G (p.Lys2266Arg) c.5990A>G (p.Lys1997Arg) c.2291A>G (p.Lys764Arg) c.6377A>G (p.Lys2126Arg) c.5741A>G (p.Lys1914Arg) c.2531A>G (p.Lys844Arg) | |
5 | g.177294165A>T | CA362325989 | NSD1 | c.5924A>T (p.Lys1975Ile) c.1439A>T (p.Lys480Ile) n.6380A>T n.1213A>T c.6488A>T (p.Lys2163Ile) n.6194A>T c.6797A>T (p.Lys2266Ile) c.5990A>T (p.Lys1997Ile) c.2291A>T (p.Lys764Ile) c.6377A>T (p.Lys2126Ile) c.5741A>T (p.Lys1914Ile) c.2531A>T (p.Lys844Ile) | |
5 | g.177294166A>C | CA362325992 | NSD1 | c.5925A>C (p.Lys1975Asn) c.1440A>C (p.Lys480Asn) n.6381A>C n.1214A>C c.6489A>C (p.Lys2163Asn) n.6195A>C c.6798A>C (p.Lys2266Asn) c.5991A>C (p.Lys1997Asn) c.2292A>C (p.Lys764Asn) c.6378A>C (p.Lys2126Asn) c.5742A>C (p.Lys1914Asn) c.2532A>C (p.Lys844Asn) | |
5 | g.177294166A>G | CA447961855 | NSD1 | c.5925A>G (p.Lys1975=) c.1440A>G (p.Lys480=) n.6381A>G n.1214A>G c.6489A>G (p.Lys2163=) n.6195A>G c.6798A>G (p.Lys2266=) c.5991A>G (p.Lys1997=) c.2292A>G (p.Lys764=) c.6378A>G (p.Lys2126=) c.5742A>G (p.Lys1914=) c.2532A>G (p.Lys844=) | |
5 | g.177294166A>T | CA362325995 | NSD1 | c.5925A>T (p.Lys1975Asn) c.1440A>T (p.Lys480Asn) n.6381A>T n.1214A>T c.6489A>T (p.Lys2163Asn) n.6195A>T c.6798A>T (p.Lys2266Asn) c.5991A>T (p.Lys1997Asn) c.2292A>T (p.Lys764Asn) c.6378A>T (p.Lys2126Asn) c.5742A>T (p.Lys1914Asn) c.2532A>T (p.Lys844Asn) | |
5 | g.177294167A>C | CA362326011 | NSD1 | c.5926A>C (p.Lys1976Gln) c.1441A>C (p.Lys481Gln) n.6382A>C n.1215A>C c.6490A>C (p.Lys2164Gln) n.6196A>C c.6799A>C (p.Lys2267Gln) c.5992A>C (p.Lys1998Gln) c.2293A>C (p.Lys765Gln) c.6379A>C (p.Lys2127Gln) c.5743A>C (p.Lys1915Gln) c.2533A>C (p.Lys845Gln) | |
5 | g.177294167A>G | CA362326000 | NSD1 | c.5926A>G (p.Lys1976Glu) c.1441A>G (p.Lys481Glu) n.6382A>G n.1215A>G c.6490A>G (p.Lys2164Glu) n.6196A>G c.6799A>G (p.Lys2267Glu) c.5992A>G (p.Lys1998Glu) c.2293A>G (p.Lys765Glu) c.6379A>G (p.Lys2127Glu) c.5743A>G (p.Lys1915Glu) c.2533A>G (p.Lys845Glu) | |
5 | g.177294167A>T | CA362326008 | NSD1 | c.5926A>T (p.Lys1976Ter) c.1441A>T (p.Lys481Ter) n.6382A>T n.1215A>T c.6490A>T (p.Lys2164Ter) n.6196A>T c.6799A>T (p.Lys2267Ter) c.5992A>T (p.Lys1998Ter) c.2293A>T (p.Lys765Ter) c.6379A>T (p.Lys2127Ter) c.5743A>T (p.Lys1915Ter) c.2533A>T (p.Lys845Ter) | |
5 | g.177294168A>C | CA362326017 | NSD1 | c.5927A>C (p.Lys1976Thr) c.1442A>C (p.Lys481Thr) n.6383A>C n.1216A>C c.6491A>C (p.Lys2164Thr) n.6197A>C c.6800A>C (p.Lys2267Thr) c.5993A>C (p.Lys1998Thr) c.2294A>C (p.Lys765Thr) c.6380A>C (p.Lys2127Thr) c.5744A>C (p.Lys1915Thr) c.2534A>C (p.Lys845Thr) | |
5 | g.177294168A>G | CA362326020 | NSD1 | c.5927A>G (p.Lys1976Arg) c.1442A>G (p.Lys481Arg) n.6383A>G n.1216A>G c.6491A>G (p.Lys2164Arg) n.6197A>G c.6800A>G (p.Lys2267Arg) c.5993A>G (p.Lys1998Arg) c.2294A>G (p.Lys765Arg) c.6380A>G (p.Lys2127Arg) c.5744A>G (p.Lys1915Arg) c.2534A>G (p.Lys845Arg) | |
5 | g.177294168A>T | CA362326024 | NSD1 | c.5927A>T (p.Lys1976Ile) c.1442A>T (p.Lys481Ile) n.6383A>T n.1216A>T c.6491A>T (p.Lys2164Ile) n.6197A>T c.6800A>T (p.Lys2267Ile) c.5993A>T (p.Lys1998Ile) c.2294A>T (p.Lys765Ile) c.6380A>T (p.Lys2127Ile) c.5744A>T (p.Lys1915Ile) c.2534A>T (p.Lys845Ile) | gnomAD v4 |
5 | g.177294169A>C | CA362326028 | NSD1 | c.5928A>C (p.Lys1976Asn) c.1443A>C (p.Lys481Asn) n.6384A>C n.1217A>C c.6492A>C (p.Lys2164Asn) n.6198A>C c.6801A>C (p.Lys2267Asn) c.5994A>C (p.Lys1998Asn) c.2295A>C (p.Lys765Asn) c.6381A>C (p.Lys2127Asn) c.5745A>C (p.Lys1915Asn) c.2535A>C (p.Lys845Asn) | |
5 | g.177294169A>G | CA447961856 | NSD1 | c.5928A>G (p.Lys1976=) c.1443A>G (p.Lys481=) n.6384A>G n.1217A>G c.6492A>G (p.Lys2164=) n.6198A>G c.6801A>G (p.Lys2267=) c.5994A>G (p.Lys1998=) c.2295A>G (p.Lys765=) c.6381A>G (p.Lys2127=) c.5745A>G (p.Lys1915=) c.2535A>G (p.Lys845=) | |
5 | g.177294169A>T | CA362326029 | NSD1 | c.5928A>T (p.Lys1976Asn) c.1443A>T (p.Lys481Asn) n.6384A>T n.1217A>T c.6492A>T (p.Lys2164Asn) n.6198A>T c.6801A>T (p.Lys2267Asn) c.5994A>T (p.Lys1998Asn) c.2295A>T (p.Lys765Asn) c.6381A>T (p.Lys2127Asn) c.5745A>T (p.Lys1915Asn) c.2535A>T (p.Lys845Asn) | gnomAD v4 |
5 | g.177294170G>A | CA3578045 | NSD1 | c.5929G>A (p.Ala1977Thr) c.1444G>A (p.Ala482Thr) n.6385G>A n.1218G>A c.6493G>A (p.Ala2165Thr) n.6199G>A c.6802G>A (p.Ala2268Thr) c.5995G>A (p.Ala1999Thr) c.2296G>A (p.Ala766Thr) c.6382G>A (p.Ala2128Thr) c.5746G>A (p.Ala1916Thr) c.2536G>A (p.Ala846Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294170G>C | CA362326039 | NSD1 | c.5929G>C (p.Ala1977Pro) c.1444G>C (p.Ala482Pro) n.6385G>C n.1218G>C c.6493G>C (p.Ala2165Pro) n.6199G>C c.6802G>C (p.Ala2268Pro) c.5995G>C (p.Ala1999Pro) c.2296G>C (p.Ala766Pro) c.6382G>C (p.Ala2128Pro) c.5746G>C (p.Ala1916Pro) c.2536G>C (p.Ala846Pro) | |
5 | g.177294170G= | CA1603535881 | NSD1 | c.5929G= (p.Ala1977=) c.1444G= (p.Ala482=) n.6385G= n.1218G= c.6493G= (p.Ala2165=) n.6199G= c.6802G= (p.Ala2268=) c.5995G= (p.Ala1999=) c.2296G= (p.Ala766=) c.6382G= (p.Ala2128=) c.5746G= (p.Ala1916=) c.2536G= (p.Ala846=) | |
5 | g.177294170G>T | CA362326043 | NSD1 | c.5929G>T (p.Ala1977Ser) c.1444G>T (p.Ala482Ser) n.6385G>T n.1218G>T c.6493G>T (p.Ala2165Ser) n.6199G>T c.6802G>T (p.Ala2268Ser) c.5995G>T (p.Ala1999Ser) c.2296G>T (p.Ala766Ser) c.6382G>T (p.Ala2128Ser) c.5746G>T (p.Ala1916Ser) c.2536G>T (p.Ala846Ser) | |
5 | g.177294171C>A | CA362326046 | NSD1 | c.5930C>A (p.Ala1977Asp) c.1445C>A (p.Ala482Asp) n.6386C>A n.1219C>A c.6494C>A (p.Ala2165Asp) n.6200C>A c.6803C>A (p.Ala2268Asp) c.5996C>A (p.Ala1999Asp) c.2297C>A (p.Ala766Asp) c.6383C>A (p.Ala2128Asp) c.5747C>A (p.Ala1916Asp) c.2537C>A (p.Ala846Asp) | dbSNP |
5 | g.177294171C= | CA1603535886 | NSD1 | c.5930C= (p.Ala1977=) c.1445C= (p.Ala482=) n.6386C= n.1219C= c.6494C= (p.Ala2165=) n.6200C= c.6803C= (p.Ala2268=) c.5996C= (p.Ala1999=) c.2297C= (p.Ala766=) c.6383C= (p.Ala2128=) c.5747C= (p.Ala1916=) c.2537C= (p.Ala846=) | |
5 | g.177294171C>G | CA362326049 | NSD1 | c.5930C>G (p.Ala1977Gly) c.1445C>G (p.Ala482Gly) n.6386C>G n.1219C>G c.6494C>G (p.Ala2165Gly) n.6200C>G c.6803C>G (p.Ala2268Gly) c.5996C>G (p.Ala1999Gly) c.2297C>G (p.Ala766Gly) c.6383C>G (p.Ala2128Gly) c.5747C>G (p.Ala1916Gly) c.2537C>G (p.Ala846Gly) | |
5 | g.177294171C>T | CA3578046 | NSD1 | c.5930C>T (p.Ala1977Val) c.1445C>T (p.Ala482Val) n.6386C>T n.1219C>T c.6494C>T (p.Ala2165Val) n.6200C>T c.6803C>T (p.Ala2268Val) c.5996C>T (p.Ala1999Val) c.2297C>T (p.Ala766Val) c.6383C>T (p.Ala2128Val) c.5747C>T (p.Ala1916Val) c.2537C>T (p.Ala846Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294172T>A | CA447961857 | NSD1 | c.5931T>A (p.Ala1977=) c.1446T>A (p.Ala482=) n.6387T>A n.1220T>A c.6495T>A (p.Ala2165=) n.6201T>A c.6804T>A (p.Ala2268=) c.5997T>A (p.Ala1999=) c.2298T>A (p.Ala766=) c.6384T>A (p.Ala2128=) c.5748T>A (p.Ala1916=) c.2538T>A (p.Ala846=) | |
5 | g.177294172T>C | CA447961858 | NSD1 | c.5931T>C (p.Ala1977=) c.1446T>C (p.Ala482=) n.6387T>C n.1220T>C c.6495T>C (p.Ala2165=) n.6201T>C c.6804T>C (p.Ala2268=) c.5997T>C (p.Ala1999=) c.2298T>C (p.Ala766=) c.6384T>C (p.Ala2128=) c.5748T>C (p.Ala1916=) c.2538T>C (p.Ala846=) | |
5 | g.177294172T>G | CA132862632 | NSD1 | c.5931T>G (p.Ala1977=) c.1446T>G (p.Ala482=) n.6387T>G n.1220T>G c.6495T>G (p.Ala2165=) n.6201T>G c.6804T>G (p.Ala2268=) c.5997T>G (p.Ala1999=) c.2298T>G (p.Ala766=) c.6384T>G (p.Ala2128=) c.5748T>G (p.Ala1916=) c.2538T>G (p.Ala846=) | ClinVar dbSNP gnomAD v4 |
5 | g.177294172T= | CA1603535891 | NSD1 | c.5931T= (p.Ala1977=) c.1446T= (p.Ala482=) n.6387T= n.1220T= c.6495T= (p.Ala2165=) n.6201T= c.6804T= (p.Ala2268=) c.5997T= (p.Ala1999=) c.2298T= (p.Ala766=) c.6384T= (p.Ala2128=) c.5748T= (p.Ala1916=) c.2538T= (p.Ala846=) | |
5 | g.177294173C>A | CA362326055 | NSD1 | c.5932C>A (p.Leu1978Met) c.1447C>A (p.Leu483Met) n.6388C>A n.1221C>A c.6496C>A (p.Leu2166Met) n.6202C>A c.6805C>A (p.Leu2269Met) c.5998C>A (p.Leu2000Met) c.2299C>A (p.Leu767Met) c.6385C>A (p.Leu2129Met) c.5749C>A (p.Leu1917Met) c.2539C>A (p.Leu847Met) | |
5 | g.177294173C>G | CA362326059 | NSD1 | c.5932C>G (p.Leu1978Val) c.1447C>G (p.Leu483Val) n.6388C>G n.1221C>G c.6496C>G (p.Leu2166Val) n.6202C>G c.6805C>G (p.Leu2269Val) c.5998C>G (p.Leu2000Val) c.2299C>G (p.Leu767Val) c.6385C>G (p.Leu2129Val) c.5749C>G (p.Leu1917Val) c.2539C>G (p.Leu847Val) | gnomAD v4 |
5 | g.177294173C>T | CA447961859 | NSD1 | c.5932C>T (p.Leu1978=) c.1447C>T (p.Leu483=) n.6388C>T n.1221C>T c.6496C>T (p.Leu2166=) n.6202C>T c.6805C>T (p.Leu2269=) c.5998C>T (p.Leu2000=) c.2299C>T (p.Leu767=) c.6385C>T (p.Leu2129=) c.5749C>T (p.Leu1917=) c.2539C>T (p.Leu847=) | |
5 | g.177294174T>A | CA362326072 | NSD1 | c.5933T>A (p.Leu1978Gln) c.1448T>A (p.Leu483Gln) n.6389T>A n.1222T>A c.6497T>A (p.Leu2166Gln) n.6203T>A c.6806T>A (p.Leu2269Gln) c.5999T>A (p.Leu2000Gln) c.2300T>A (p.Leu767Gln) c.6386T>A (p.Leu2129Gln) c.5750T>A (p.Leu1917Gln) c.2540T>A (p.Leu847Gln) | |
5 | g.177294174T>C | CA362326063 | NSD1 | c.5933T>C (p.Leu1978Pro) c.1448T>C (p.Leu483Pro) n.6389T>C n.1222T>C c.6497T>C (p.Leu2166Pro) n.6203T>C c.6806T>C (p.Leu2269Pro) c.5999T>C (p.Leu2000Pro) c.2300T>C (p.Leu767Pro) c.6386T>C (p.Leu2129Pro) c.5750T>C (p.Leu1917Pro) c.2540T>C (p.Leu847Pro) | |
5 | g.177294174T>G | CA362326068 | NSD1 | c.5933T>G (p.Leu1978Arg) c.1448T>G (p.Leu483Arg) n.6389T>G n.1222T>G c.6497T>G (p.Leu2166Arg) n.6203T>G c.6806T>G (p.Leu2269Arg) c.5999T>G (p.Leu2000Arg) c.2300T>G (p.Leu767Arg) c.6386T>G (p.Leu2129Arg) c.5750T>G (p.Leu1917Arg) c.2540T>G (p.Leu847Arg) | |
5 | g.177294175G>A | CA447961860 | NSD1 | c.5934G>A (p.Leu1978=) c.1449G>A (p.Leu483=) n.6390G>A n.1223G>A c.6498G>A (p.Leu2166=) n.6204G>A c.6807G>A (p.Leu2269=) c.6000G>A (p.Leu2000=) c.2301G>A (p.Leu767=) c.6387G>A (p.Leu2129=) c.5751G>A (p.Leu1917=) c.2541G>A (p.Leu847=) | |
5 | g.177294175G>C | CA447961862 | NSD1 | c.5934G>C (p.Leu1978=) c.1449G>C (p.Leu483=) n.6390G>C n.1223G>C c.6498G>C (p.Leu2166=) n.6204G>C c.6807G>C (p.Leu2269=) c.6000G>C (p.Leu2000=) c.2301G>C (p.Leu767=) c.6387G>C (p.Leu2129=) c.5751G>C (p.Leu1917=) c.2541G>C (p.Leu847=) | |
5 | g.177294175G>T | CA447961861 | NSD1 | c.5934G>T (p.Leu1978=) c.1449G>T (p.Leu483=) n.6390G>T n.1223G>T c.6498G>T (p.Leu2166=) n.6204G>T c.6807G>T (p.Leu2269=) c.6000G>T (p.Leu2000=) c.2301G>T (p.Leu767=) c.6387G>T (p.Leu2129=) c.5751G>T (p.Leu1917=) c.2541G>T (p.Leu847=) | |
5 | g.177294176G>A | CA362326078 | NSD1 | c.5935G>A (p.Ala1979Thr) c.1450G>A (p.Ala484Thr) n.6391G>A n.1224G>A c.6499G>A (p.Ala2167Thr) n.6205G>A c.6808G>A (p.Ala2270Thr) c.6001G>A (p.Ala2001Thr) c.2302G>A (p.Ala768Thr) c.6388G>A (p.Ala2130Thr) c.5752G>A (p.Ala1918Thr) c.2542G>A (p.Ala848Thr) | |
5 | g.177294176G>C | CA362326080 | NSD1 | c.5935G>C (p.Ala1979Pro) c.1450G>C (p.Ala484Pro) n.6391G>C n.1224G>C c.6499G>C (p.Ala2167Pro) n.6205G>C c.6808G>C (p.Ala2270Pro) c.6001G>C (p.Ala2001Pro) c.2302G>C (p.Ala768Pro) c.6388G>C (p.Ala2130Pro) c.5752G>C (p.Ala1918Pro) c.2542G>C (p.Ala848Pro) | |
5 | g.177294176G>T | CA362326083 | NSD1 | c.5935G>T (p.Ala1979Ser) c.1450G>T (p.Ala484Ser) n.6391G>T n.1224G>T c.6499G>T (p.Ala2167Ser) n.6205G>T c.6808G>T (p.Ala2270Ser) c.6001G>T (p.Ala2001Ser) c.2302G>T (p.Ala768Ser) c.6388G>T (p.Ala2130Ser) c.5752G>T (p.Ala1918Ser) c.2542G>T (p.Ala848Ser) | |
5 | g.177294177C>A | CA362326089 | NSD1 | c.5936C>A (p.Ala1979Glu) c.1451C>A (p.Ala484Glu) n.6392C>A n.1225C>A c.6500C>A (p.Ala2167Glu) n.6206C>A c.6809C>A (p.Ala2270Glu) c.6002C>A (p.Ala2001Glu) c.2303C>A (p.Ala768Glu) c.6389C>A (p.Ala2130Glu) c.5753C>A (p.Ala1918Glu) c.2543C>A (p.Ala848Glu) | |
5 | g.177294177C>G | CA362326091 | NSD1 | c.5936C>G (p.Ala1979Gly) c.1451C>G (p.Ala484Gly) n.6392C>G n.1225C>G c.6500C>G (p.Ala2167Gly) n.6206C>G c.6809C>G (p.Ala2270Gly) c.6002C>G (p.Ala2001Gly) c.2303C>G (p.Ala768Gly) c.6389C>G (p.Ala2130Gly) c.5753C>G (p.Ala1918Gly) c.2543C>G (p.Ala848Gly) | |
5 | g.177294177C>T | CA362326094 | NSD1 | c.5936C>T (p.Ala1979Val) c.1451C>T (p.Ala484Val) n.6392C>T n.1225C>T c.6500C>T (p.Ala2167Val) n.6206C>T c.6809C>T (p.Ala2270Val) c.6002C>T (p.Ala2001Val) c.2303C>T (p.Ala768Val) c.6389C>T (p.Ala2130Val) c.5753C>T (p.Ala1918Val) c.2543C>T (p.Ala848Val) | dbSNP |
5 | g.177294178A>C | CA447961863 | NSD1 | c.5937A>C (p.Ala1979=) c.1452A>C (p.Ala484=) n.6393A>C n.1226A>C c.6501A>C (p.Ala2167=) n.6207A>C c.6810A>C (p.Ala2270=) c.6003A>C (p.Ala2001=) c.2304A>C (p.Ala768=) c.6390A>C (p.Ala2130=) c.5754A>C (p.Ala1918=) c.2544A>C (p.Ala848=) | |
5 | g.177294178A>G | CA447961864 | NSD1 | c.5937A>G (p.Ala1979=) c.1452A>G (p.Ala484=) n.6393A>G n.1226A>G c.6501A>G (p.Ala2167=) n.6207A>G c.6810A>G (p.Ala2270=) c.6003A>G (p.Ala2001=) c.2304A>G (p.Ala768=) c.6390A>G (p.Ala2130=) c.5754A>G (p.Ala1918=) c.2544A>G (p.Ala848=) | gnomAD v4 |
5 | g.177294178A>T | CA447961866 | NSD1 | c.5937A>T (p.Ala1979=) c.1452A>T (p.Ala484=) n.6393A>T n.1226A>T c.6501A>T (p.Ala2167=) n.6207A>T c.6810A>T (p.Ala2270=) c.6003A>T (p.Ala2001=) c.2304A>T (p.Ala768=) c.6390A>T (p.Ala2130=) c.5754A>T (p.Ala1918=) c.2544A>T (p.Ala848=) | |
5 | g.177294179G>A | CA362326099 | NSD1 | c.5938G>A (p.Gly1980Arg) c.1453G>A (p.Gly485Arg) n.6394G>A n.1227G>A c.6502G>A (p.Gly2168Arg) n.6208G>A c.6811G>A (p.Gly2271Arg) c.6004G>A (p.Gly2002Arg) c.2305G>A (p.Gly769Arg) c.6391G>A (p.Gly2131Arg) c.5755G>A (p.Gly1919Arg) c.2545G>A (p.Gly849Arg) | |
5 | g.177294179G>C | CA362326100 | NSD1 | c.5938G>C (p.Gly1980Arg) c.1453G>C (p.Gly485Arg) n.6394G>C n.1227G>C c.6502G>C (p.Gly2168Arg) n.6208G>C c.6811G>C (p.Gly2271Arg) c.6004G>C (p.Gly2002Arg) c.2305G>C (p.Gly769Arg) c.6391G>C (p.Gly2131Arg) c.5755G>C (p.Gly1919Arg) c.2545G>C (p.Gly849Arg) | |
5 | g.177294179G>T | CA362326101 | NSD1 | c.5938G>T (p.Gly1980Trp) c.1453G>T (p.Gly485Trp) n.6394G>T n.1227G>T c.6502G>T (p.Gly2168Trp) n.6208G>T c.6811G>T (p.Gly2271Trp) c.6004G>T (p.Gly2002Trp) c.2305G>T (p.Gly769Trp) c.6391G>T (p.Gly2131Trp) c.5755G>T (p.Gly1919Trp) c.2545G>T (p.Gly849Trp) | |
5 | g.177294180G>A | CA362326102 | NSD1 | c.5939G>A (p.Gly1980Glu) c.1454G>A (p.Gly485Glu) n.6395G>A n.1228G>A c.6503G>A (p.Gly2168Glu) n.6209G>A c.6812G>A (p.Gly2271Glu) c.6005G>A (p.Gly2002Glu) c.2306G>A (p.Gly769Glu) c.6392G>A (p.Gly2131Glu) c.5756G>A (p.Gly1919Glu) c.2546G>A (p.Gly849Glu) | |
5 | g.177294180G>C | CA362326103 | NSD1 | c.5939G>C (p.Gly1980Ala) c.1454G>C (p.Gly485Ala) n.6395G>C n.1228G>C c.6503G>C (p.Gly2168Ala) n.6209G>C c.6812G>C (p.Gly2271Ala) c.6005G>C (p.Gly2002Ala) c.2306G>C (p.Gly769Ala) c.6392G>C (p.Gly2131Ala) c.5756G>C (p.Gly1919Ala) c.2546G>C (p.Gly849Ala) | |
5 | g.177294180G>T | CA362326106 | NSD1 | c.5939G>T (p.Gly1980Val) c.1454G>T (p.Gly485Val) n.6395G>T n.1228G>T c.6503G>T (p.Gly2168Val) n.6209G>T c.6812G>T (p.Gly2271Val) c.6005G>T (p.Gly2002Val) c.2306G>T (p.Gly769Val) c.6392G>T (p.Gly2131Val) c.5756G>T (p.Gly1919Val) c.2546G>T (p.Gly849Val) | gnomAD v4 |
5 | g.177294181G>A | CA447961870 | NSD1 | c.5940G>A (p.Gly1980=) c.1455G>A (p.Gly485=) n.6396G>A n.1229G>A c.6504G>A (p.Gly2168=) n.6210G>A c.6813G>A (p.Gly2271=) c.6006G>A (p.Gly2002=) c.2307G>A (p.Gly769=) c.6393G>A (p.Gly2131=) c.5757G>A (p.Gly1919=) c.2547G>A (p.Gly849=) | |
5 | g.177294181G>C | CA447961873 | NSD1 | c.5940G>C (p.Gly1980=) c.1455G>C (p.Gly485=) n.6396G>C n.1229G>C c.6504G>C (p.Gly2168=) n.6210G>C c.6813G>C (p.Gly2271=) c.6006G>C (p.Gly2002=) c.2307G>C (p.Gly769=) c.6393G>C (p.Gly2131=) c.5757G>C (p.Gly1919=) c.2547G>C (p.Gly849=) | |
5 | g.177294181G>T | CA447961871 | NSD1 | c.5940G>T (p.Gly1980=) c.1455G>T (p.Gly485=) n.6396G>T n.1229G>T c.6504G>T (p.Gly2168=) n.6210G>T c.6813G>T (p.Gly2271=) c.6006G>T (p.Gly2002=) c.2307G>T (p.Gly769=) c.6393G>T (p.Gly2131=) c.5757G>T (p.Gly1919=) c.2547G>T (p.Gly849=) | gnomAD v4 |
5 | g.177294182A= | CA1603535895 | NSD1 | c.5941A= (p.Thr1981=) c.1456A= (p.Thr486=) n.6397A= n.1230A= c.6505A= (p.Thr2169=) n.6211A= c.6814A= (p.Thr2272=) c.6007A= (p.Thr2003=) c.2308A= (p.Thr770=) c.6394A= (p.Thr2132=) c.5758A= (p.Thr1920=) c.2548A= (p.Thr850=) | |
5 | g.177294182A>C | CA362326109 | NSD1 | c.5941A>C (p.Thr1981Pro) c.1456A>C (p.Thr486Pro) n.6397A>C n.1230A>C c.6505A>C (p.Thr2169Pro) n.6211A>C c.6814A>C (p.Thr2272Pro) c.6007A>C (p.Thr2003Pro) c.2308A>C (p.Thr770Pro) c.6394A>C (p.Thr2132Pro) c.5758A>C (p.Thr1920Pro) c.2548A>C (p.Thr850Pro) | |
5 | g.177294182A>G | CA3578047 | NSD1 | c.5941A>G (p.Thr1981Ala) c.1456A>G (p.Thr486Ala) n.6397A>G n.1230A>G c.6505A>G (p.Thr2169Ala) n.6211A>G c.6814A>G (p.Thr2272Ala) c.6007A>G (p.Thr2003Ala) c.2308A>G (p.Thr770Ala) c.6394A>G (p.Thr2132Ala) c.5758A>G (p.Thr1920Ala) c.2548A>G (p.Thr850Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294182A>T | CA362326110 | NSD1 | c.5941A>T (p.Thr1981Ser) c.1456A>T (p.Thr486Ser) n.6397A>T n.1230A>T c.6505A>T (p.Thr2169Ser) n.6211A>T c.6814A>T (p.Thr2272Ser) c.6007A>T (p.Thr2003Ser) c.2308A>T (p.Thr770Ser) c.6394A>T (p.Thr2132Ser) c.5758A>T (p.Thr1920Ser) c.2548A>T (p.Thr850Ser) | |
5 | g.177294183C>A | CA362326111 | NSD1 | c.5942C>A (p.Thr1981Asn) c.1457C>A (p.Thr486Asn) n.6398C>A n.1231C>A c.6506C>A (p.Thr2169Asn) n.6212C>A c.6815C>A (p.Thr2272Asn) c.6008C>A (p.Thr2003Asn) c.2309C>A (p.Thr770Asn) c.6395C>A (p.Thr2132Asn) c.5759C>A (p.Thr1920Asn) c.2549C>A (p.Thr850Asn) | |
5 | g.177294183C>G | CA362326115 | NSD1 | c.5942C>G (p.Thr1981Ser) c.1457C>G (p.Thr486Ser) n.6398C>G n.1231C>G c.6506C>G (p.Thr2169Ser) n.6212C>G c.6815C>G (p.Thr2272Ser) c.6008C>G (p.Thr2003Ser) c.2309C>G (p.Thr770Ser) c.6395C>G (p.Thr2132Ser) c.5759C>G (p.Thr1920Ser) c.2549C>G (p.Thr850Ser) | |
5 | g.177294183C>T | CA362326112 | NSD1 | c.5942C>T (p.Thr1981Ile) c.1457C>T (p.Thr486Ile) n.6398C>T n.1231C>T c.6506C>T (p.Thr2169Ile) n.6212C>T c.6815C>T (p.Thr2272Ile) c.6008C>T (p.Thr2003Ile) c.2309C>T (p.Thr770Ile) c.6395C>T (p.Thr2132Ile) c.5759C>T (p.Thr1920Ile) c.2549C>T (p.Thr850Ile) | dbSNP |
5 | g.177294184T>A | CA447961878 | NSD1 | c.5943T>A (p.Thr1981=) c.1458T>A (p.Thr486=) n.6399T>A n.1232T>A c.6507T>A (p.Thr2169=) n.6213T>A c.6816T>A (p.Thr2272=) c.6009T>A (p.Thr2003=) c.2310T>A (p.Thr770=) c.6396T>A (p.Thr2132=) c.5760T>A (p.Thr1920=) c.2550T>A (p.Thr850=) | |
5 | g.177294184T>C | CA447961879 | NSD1 | c.5943T>C (p.Thr1981=) c.1458T>C (p.Thr486=) n.6399T>C n.1232T>C c.6507T>C (p.Thr2169=) n.6213T>C c.6816T>C (p.Thr2272=) c.6009T>C (p.Thr2003=) c.2310T>C (p.Thr770=) c.6396T>C (p.Thr2132=) c.5760T>C (p.Thr1920=) c.2550T>C (p.Thr850=) | |
5 | g.177294184T>G | CA447961880 | NSD1 | c.5943T>G (p.Thr1981=) c.1458T>G (p.Thr486=) n.6399T>G n.1232T>G c.6507T>G (p.Thr2169=) n.6213T>G c.6816T>G (p.Thr2272=) c.6009T>G (p.Thr2003=) c.2310T>G (p.Thr770=) c.6396T>G (p.Thr2132=) c.5760T>G (p.Thr1920=) c.2550T>G (p.Thr850=) | |
5 | g.177294185T>A | CA362326119 | NSD1 | c.5944T>A (p.Cys1982Ser) c.1459T>A (p.Cys487Ser) n.6400T>A n.1233T>A c.6508T>A (p.Cys2170Ser) n.6214T>A c.6817T>A (p.Cys2273Ser) c.6010T>A (p.Cys2004Ser) c.2311T>A (p.Cys771Ser) c.6397T>A (p.Cys2133Ser) c.5761T>A (p.Cys1921Ser) c.2551T>A (p.Cys851Ser) | |
5 | g.177294185T>C | CA362326121 | NSD1 | c.5944T>C (p.Cys1982Arg) c.1459T>C (p.Cys487Arg) n.6400T>C n.1233T>C c.6508T>C (p.Cys2170Arg) n.6214T>C c.6817T>C (p.Cys2273Arg) c.6010T>C (p.Cys2004Arg) c.2311T>C (p.Cys771Arg) c.6397T>C (p.Cys2133Arg) c.5761T>C (p.Cys1921Arg) c.2551T>C (p.Cys851Arg) | dbSNP |
5 | g.177294185T>G | CA362326120 | NSD1 | c.5944T>G (p.Cys1982Gly) c.1459T>G (p.Cys487Gly) n.6400T>G n.1233T>G c.6508T>G (p.Cys2170Gly) n.6214T>G c.6817T>G (p.Cys2273Gly) c.6010T>G (p.Cys2004Gly) c.2311T>G (p.Cys771Gly) c.6397T>G (p.Cys2133Gly) c.5761T>G (p.Cys1921Gly) c.2551T>G (p.Cys851Gly) | COSMIC COSMIC |
5 | g.177294185T= | CA1603535897 | NSD1 | c.5944T= (p.Cys1982=) c.1459T= (p.Cys487=) n.6400T= n.1233T= c.6508T= (p.Cys2170=) n.6214T= c.6817T= (p.Cys2273=) c.6010T= (p.Cys2004=) c.2311T= (p.Cys771=) c.6397T= (p.Cys2133=) c.5761T= (p.Cys1921=) c.2551T= (p.Cys851=) | |
5 | g.177294186G>A | CA362326122 | NSD1 | c.5945G>A (p.Cys1982Tyr) c.1460G>A (p.Cys487Tyr) n.6401G>A n.1234G>A c.6509G>A (p.Cys2170Tyr) n.6215G>A c.6818G>A (p.Cys2273Tyr) c.6011G>A (p.Cys2004Tyr) c.2312G>A (p.Cys771Tyr) c.6398G>A (p.Cys2133Tyr) c.5762G>A (p.Cys1921Tyr) c.2552G>A (p.Cys851Tyr) | |
5 | g.177294186G>C | CA362326127 | NSD1 | c.5945G>C (p.Cys1982Ser) c.1460G>C (p.Cys487Ser) n.6401G>C n.1234G>C c.6509G>C (p.Cys2170Ser) n.6215G>C c.6818G>C (p.Cys2273Ser) c.6011G>C (p.Cys2004Ser) c.2312G>C (p.Cys771Ser) c.6398G>C (p.Cys2133Ser) c.5762G>C (p.Cys1921Ser) c.2552G>C (p.Cys851Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294186G= | CA1603535906 | NSD1 | c.5945G= (p.Cys1982=) c.1460G= (p.Cys487=) n.6401G= n.1234G= c.6509G= (p.Cys2170=) n.6215G= c.6818G= (p.Cys2273=) c.6011G= (p.Cys2004=) c.2312G= (p.Cys771=) c.6398G= (p.Cys2133=) c.5762G= (p.Cys1921=) c.2552G= (p.Cys851=) | |
5 | g.177294186G>T | CA362326124 | NSD1 | c.5945G>T (p.Cys1982Phe) c.1460G>T (p.Cys487Phe) n.6401G>T n.1234G>T c.6509G>T (p.Cys2170Phe) n.6215G>T c.6818G>T (p.Cys2273Phe) c.6011G>T (p.Cys2004Phe) c.2312G>T (p.Cys771Phe) c.6398G>T (p.Cys2133Phe) c.5762G>T (p.Cys1921Phe) c.2552G>T (p.Cys851Phe) | |
5 | g.177294187T>A | CA362326129 | NSD1 | c.5946T>A (p.Cys1982Ter) c.1461T>A (p.Cys487Ter) n.6402T>A n.1235T>A c.6510T>A (p.Cys2170Ter) n.6216T>A c.6819T>A (p.Cys2273Ter) c.6012T>A (p.Cys2004Ter) c.2313T>A (p.Cys771Ter) c.6399T>A (p.Cys2133Ter) c.5763T>A (p.Cys1921Ter) c.2553T>A (p.Cys851Ter) | dbSNP |
5 | g.177294187T>C | CA447961884 | NSD1 | c.5946T>C (p.Cys1982=) c.1461T>C (p.Cys487=) n.6402T>C n.1235T>C c.6510T>C (p.Cys2170=) n.6216T>C c.6819T>C (p.Cys2273=) c.6012T>C (p.Cys2004=) c.2313T>C (p.Cys771=) c.6399T>C (p.Cys2133=) c.5763T>C (p.Cys1921=) c.2553T>C (p.Cys851=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294187T>G | CA362326133 | NSD1 | c.5946T>G (p.Cys1982Trp) c.1461T>G (p.Cys487Trp) n.6402T>G n.1235T>G c.6510T>G (p.Cys2170Trp) n.6216T>G c.6819T>G (p.Cys2273Trp) c.6012T>G (p.Cys2004Trp) c.2313T>G (p.Cys771Trp) c.6399T>G (p.Cys2133Trp) c.5763T>G (p.Cys1921Trp) c.2553T>G (p.Cys851Trp) | |
5 | g.177294187T= | CA1603535909 | NSD1 | c.5946T= (p.Cys1982=) c.1461T= (p.Cys487=) n.6402T= n.1235T= c.6510T= (p.Cys2170=) n.6216T= c.6819T= (p.Cys2273=) c.6012T= (p.Cys2004=) c.2313T= (p.Cys771=) c.6399T= (p.Cys2133=) c.5763T= (p.Cys1921=) c.2553T= (p.Cys851=) | |
5 | g.177294188C>A | CA362326134 | NSD1 | c.5947C>A (p.Gln1983Lys) c.1462C>A (p.Gln488Lys) n.6403C>A n.1236C>A c.6511C>A (p.Gln2171Lys) n.6217C>A c.6820C>A (p.Gln2274Lys) c.6013C>A (p.Gln2005Lys) c.2314C>A (p.Gln772Lys) c.6400C>A (p.Gln2134Lys) c.5764C>A (p.Gln1922Lys) c.2554C>A (p.Gln852Lys) | |
5 | g.177294188C>G | CA362326135 | NSD1 | c.5947C>G (p.Gln1983Glu) c.1462C>G (p.Gln488Glu) n.6403C>G n.1236C>G c.6511C>G (p.Gln2171Glu) n.6217C>G c.6820C>G (p.Gln2274Glu) c.6013C>G (p.Gln2005Glu) c.2314C>G (p.Gln772Glu) c.6400C>G (p.Gln2134Glu) c.5764C>G (p.Gln1922Glu) c.2554C>G (p.Gln852Glu) | |
5 | g.177294188C>T | CA362326136 | NSD1 | c.5947C>T (p.Gln1983Ter) c.1462C>T (p.Gln488Ter) n.6403C>T n.1236C>T c.6511C>T (p.Gln2171Ter) n.6217C>T c.6820C>T (p.Gln2274Ter) c.6013C>T (p.Gln2005Ter) c.2314C>T (p.Gln772Ter) c.6400C>T (p.Gln2134Ter) c.5764C>T (p.Gln1922Ter) c.2554C>T (p.Gln852Ter) | |
5 | g.177294189A= | CA1603535913 | NSD1 | c.5948A= (p.Gln1983=) c.1463A= (p.Gln488=) n.6404A= n.1237A= c.6512A= (p.Gln2171=) n.6218A= c.6821A= (p.Gln2274=) c.6014A= (p.Gln2005=) c.2315A= (p.Gln772=) c.6401A= (p.Gln2134=) c.5765A= (p.Gln1922=) c.2555A= (p.Gln852=) | |
5 | g.177294189A>C | CA362326142 | NSD1 | c.5948A>C (p.Gln1983Pro) c.1463A>C (p.Gln488Pro) n.6404A>C n.1237A>C c.6512A>C (p.Gln2171Pro) n.6218A>C c.6821A>C (p.Gln2274Pro) c.6014A>C (p.Gln2005Pro) c.2315A>C (p.Gln772Pro) c.6401A>C (p.Gln2134Pro) c.5765A>C (p.Gln1922Pro) c.2555A>C (p.Gln852Pro) | |
5 | g.177294189A>G | CA362326143 | NSD1 | c.5948A>G (p.Gln1983Arg) c.1463A>G (p.Gln488Arg) n.6404A>G n.1237A>G c.6512A>G (p.Gln2171Arg) n.6218A>G c.6821A>G (p.Gln2274Arg) c.6014A>G (p.Gln2005Arg) c.2315A>G (p.Gln772Arg) c.6401A>G (p.Gln2134Arg) c.5765A>G (p.Gln1922Arg) c.2555A>G (p.Gln852Arg) | dbSNP gnomAD v4 |
5 | g.177294189A>T | CA362326148 | NSD1 | c.5948A>T (p.Gln1983Leu) c.1463A>T (p.Gln488Leu) n.6404A>T n.1237A>T c.6512A>T (p.Gln2171Leu) n.6218A>T c.6821A>T (p.Gln2274Leu) c.6014A>T (p.Gln2005Leu) c.2315A>T (p.Gln772Leu) c.6401A>T (p.Gln2134Leu) c.5765A>T (p.Gln1922Leu) c.2555A>T (p.Gln852Leu) | |
5 | g.177294190G>A | CA447961889 | NSD1 | c.5949G>A (p.Gln1983=) c.1464G>A (p.Gln488=) n.6405G>A n.1238G>A c.6513G>A (p.Gln2171=) n.6219G>A c.6822G>A (p.Gln2274=) c.6015G>A (p.Gln2005=) c.2316G>A (p.Gln772=) c.6402G>A (p.Gln2134=) c.5766G>A (p.Gln1922=) c.2556G>A (p.Gln852=) | |
5 | g.177294190G>C | CA362326150 | NSD1 | c.5949G>C (p.Gln1983His) c.1464G>C (p.Gln488His) n.6405G>C n.1238G>C c.6513G>C (p.Gln2171His) n.6219G>C c.6822G>C (p.Gln2274His) c.6015G>C (p.Gln2005His) c.2316G>C (p.Gln772His) c.6402G>C (p.Gln2134His) c.5766G>C (p.Gln1922His) c.2556G>C (p.Gln852His) | dbSNP |
5 | g.177294190G>T | CA362326154 | NSD1 | c.5949G>T (p.Gln1983His) c.1464G>T (p.Gln488His) n.6405G>T n.1238G>T c.6513G>T (p.Gln2171His) n.6219G>T c.6822G>T (p.Gln2274His) c.6015G>T (p.Gln2005His) c.2316G>T (p.Gln772His) c.6402G>T (p.Gln2134His) c.5766G>T (p.Gln1922His) c.2556G>T (p.Gln852His) | |
5 | g.177294191A>C | CA447961890 | NSD1 | c.5950A>C (p.Arg1984=) c.1465A>C (p.Arg489=) n.6406A>C n.1239A>C c.6514A>C (p.Arg2172=) n.6220A>C c.6823A>C (p.Arg2275=) c.6016A>C (p.Arg2006=) c.2317A>C (p.Arg773=) c.6403A>C (p.Arg2135=) c.5767A>C (p.Arg1923=) c.2557A>C (p.Arg853=) | |
5 | g.177294191A>G | CA362326159 | NSD1 | c.5950A>G (p.Arg1984Gly) c.1465A>G (p.Arg489Gly) n.6406A>G n.1239A>G c.6514A>G (p.Arg2172Gly) n.6220A>G c.6823A>G (p.Arg2275Gly) c.6016A>G (p.Arg2006Gly) c.2317A>G (p.Arg773Gly) c.6403A>G (p.Arg2135Gly) c.5767A>G (p.Arg1923Gly) c.2557A>G (p.Arg853Gly) | |
5 | g.177294191A>T | CA362326157 | NSD1 | c.5950A>T (p.Arg1984Trp) c.1465A>T (p.Arg489Trp) n.6406A>T n.1239A>T c.6514A>T (p.Arg2172Trp) n.6220A>T c.6823A>T (p.Arg2275Trp) c.6016A>T (p.Arg2006Trp) c.2317A>T (p.Arg773Trp) c.6403A>T (p.Arg2135Trp) c.5767A>T (p.Arg1923Trp) c.2557A>T (p.Arg853Trp) | dbSNP |
5 | g.177294192G>A | CA362326175 | NSD1 | c.5951G>A (p.Arg1984Lys) c.1466G>A (p.Arg489Lys) n.6407G>A n.1240G>A c.6515G>A (p.Arg2172Lys) n.6221G>A c.6824G>A (p.Arg2275Lys) c.6017G>A (p.Arg2006Lys) c.2318G>A (p.Arg773Lys) c.6404G>A (p.Arg2135Lys) c.5768G>A (p.Arg1923Lys) c.2558G>A (p.Arg853Lys) | ClinVar gnomAD v4 |
5 | g.177294192G>C | CA362326180 | NSD1 | c.5951G>C (p.Arg1984Thr) c.1466G>C (p.Arg489Thr) n.6407G>C n.1240G>C c.6515G>C (p.Arg2172Thr) n.6221G>C c.6824G>C (p.Arg2275Thr) c.6017G>C (p.Arg2006Thr) c.2318G>C (p.Arg773Thr) c.6404G>C (p.Arg2135Thr) c.5768G>C (p.Arg1923Thr) c.2558G>C (p.Arg853Thr) | |
5 | g.177294192G>T | CA362326181 | NSD1 | c.5951G>T (p.Arg1984Met) c.1466G>T (p.Arg489Met) n.6407G>T n.1240G>T c.6515G>T (p.Arg2172Met) n.6221G>T c.6824G>T (p.Arg2275Met) c.6017G>T (p.Arg2006Met) c.2318G>T (p.Arg773Met) c.6404G>T (p.Arg2135Met) c.5768G>T (p.Arg1923Met) c.2558G>T (p.Arg853Met) | |
5 | g.177294193G>A | CA447961892 | NSD1 | c.5952G>A (p.Arg1984=) c.1467G>A (p.Arg489=) n.6408G>A n.1241G>A c.6516G>A (p.Arg2172=) n.6222G>A c.6825G>A (p.Arg2275=) c.6018G>A (p.Arg2006=) c.2319G>A (p.Arg773=) c.6405G>A (p.Arg2135=) c.5769G>A (p.Arg1923=) c.2559G>A (p.Arg853=) | |
5 | g.177294193G>C | CA362326197 | NSD1 | c.5952G>C (p.Arg1984Ser) c.1467G>C (p.Arg489Ser) n.6408G>C n.1241G>C c.6516G>C (p.Arg2172Ser) n.6222G>C c.6825G>C (p.Arg2275Ser) c.6018G>C (p.Arg2006Ser) c.2319G>C (p.Arg773Ser) c.6405G>C (p.Arg2135Ser) c.5769G>C (p.Arg1923Ser) c.2559G>C (p.Arg853Ser) | |
5 | g.177294193G>T | CA362326201 | NSD1 | c.5952G>T (p.Arg1984Ser) c.1467G>T (p.Arg489Ser) n.6408G>T n.1241G>T c.6516G>T (p.Arg2172Ser) n.6222G>T c.6825G>T (p.Arg2275Ser) c.6018G>T (p.Arg2006Ser) c.2319G>T (p.Arg773Ser) c.6405G>T (p.Arg2135Ser) c.5769G>T (p.Arg1923Ser) c.2559G>T (p.Arg853Ser) | |
5 | g.177294194C>A | CA362326203 | NSD1 | c.5953C>A (p.Pro1985Thr) c.1468C>A (p.Pro490Thr) n.6409C>A n.1242C>A c.6517C>A (p.Pro2173Thr) n.6223C>A c.6826C>A (p.Pro2276Thr) c.6019C>A (p.Pro2007Thr) c.2320C>A (p.Pro774Thr) c.6406C>A (p.Pro2136Thr) c.5770C>A (p.Pro1924Thr) c.2560C>A (p.Pro854Thr) | dbSNP |
5 | g.177294194C>G | CA362326207 | NSD1 | c.5953C>G (p.Pro1985Ala) c.1468C>G (p.Pro490Ala) n.6409C>G n.1242C>G c.6517C>G (p.Pro2173Ala) n.6223C>G c.6826C>G (p.Pro2276Ala) c.6019C>G (p.Pro2007Ala) c.2320C>G (p.Pro774Ala) c.6406C>G (p.Pro2136Ala) c.5770C>G (p.Pro1924Ala) c.2560C>G (p.Pro854Ala) | |
5 | g.177294194C>T | CA362326211 | NSD1 | c.5953C>T (p.Pro1985Ser) c.1468C>T (p.Pro490Ser) n.6409C>T n.1242C>T c.6517C>T (p.Pro2173Ser) n.6223C>T c.6826C>T (p.Pro2276Ser) c.6019C>T (p.Pro2007Ser) c.2320C>T (p.Pro774Ser) c.6406C>T (p.Pro2136Ser) c.5770C>T (p.Pro1924Ser) c.2560C>T (p.Pro854Ser) | |
5 | g.177294195C>A | CA362326215 | NSD1 | c.5954C>A (p.Pro1985Gln) c.1469C>A (p.Pro490Gln) n.6410C>A n.1243C>A c.6518C>A (p.Pro2173Gln) n.6224C>A c.6827C>A (p.Pro2276Gln) c.6020C>A (p.Pro2007Gln) c.2321C>A (p.Pro774Gln) c.6407C>A (p.Pro2136Gln) c.5771C>A (p.Pro1924Gln) c.2561C>A (p.Pro854Gln) | |
5 | g.177294195C>G | CA362326224 | NSD1 | c.5954C>G (p.Pro1985Arg) c.1469C>G (p.Pro490Arg) n.6410C>G n.1243C>G c.6518C>G (p.Pro2173Arg) n.6224C>G c.6827C>G (p.Pro2276Arg) c.6020C>G (p.Pro2007Arg) c.2321C>G (p.Pro774Arg) c.6407C>G (p.Pro2136Arg) c.5771C>G (p.Pro1924Arg) c.2561C>G (p.Pro854Arg) | |
5 | g.177294195C>T | CA362326227 | NSD1 | c.5954C>T (p.Pro1985Leu) c.1469C>T (p.Pro490Leu) n.6410C>T n.1243C>T c.6518C>T (p.Pro2173Leu) n.6224C>T c.6827C>T (p.Pro2276Leu) c.6020C>T (p.Pro2007Leu) c.2321C>T (p.Pro774Leu) c.6407C>T (p.Pro2136Leu) c.5771C>T (p.Pro1924Leu) c.2561C>T (p.Pro854Leu) | |
5 | g.177294196A>C | CA447961899 | NSD1 | c.5955A>C (p.Pro1985=) c.1470A>C (p.Pro490=) n.6411A>C n.1244A>C c.6519A>C (p.Pro2173=) n.6225A>C c.6828A>C (p.Pro2276=) c.6021A>C (p.Pro2007=) c.2322A>C (p.Pro774=) c.6408A>C (p.Pro2136=) c.5772A>C (p.Pro1924=) c.2562A>C (p.Pro854=) | |
5 | g.177294196A>G | CA447961900 | NSD1 | c.5955A>G (p.Pro1985=) c.1470A>G (p.Pro490=) n.6411A>G n.1244A>G c.6519A>G (p.Pro2173=) n.6225A>G c.6828A>G (p.Pro2276=) c.6021A>G (p.Pro2007=) c.2322A>G (p.Pro774=) c.6408A>G (p.Pro2136=) c.5772A>G (p.Pro1924=) c.2562A>G (p.Pro854=) | |
5 | g.177294196A>T | CA447961901 | NSD1 | c.5955A>T (p.Pro1985=) c.1470A>T (p.Pro490=) n.6411A>T n.1244A>T c.6519A>T (p.Pro2173=) n.6225A>T c.6828A>T (p.Pro2276=) c.6021A>T (p.Pro2007=) c.2322A>T (p.Pro774=) c.6408A>T (p.Pro2136=) c.5772A>T (p.Pro1924=) c.2562A>T (p.Pro854=) | |
5 | g.177294197T>A | CA3578048 | NSD1 | c.5956T>A (p.Leu1986Met) c.1471T>A (p.Leu491Met) n.6412T>A n.1245T>A c.6520T>A (p.Leu2174Met) n.6226T>A c.6829T>A (p.Leu2277Met) c.6022T>A (p.Leu2008Met) c.2323T>A (p.Leu775Met) c.6409T>A (p.Leu2137Met) c.5773T>A (p.Leu1925Met) c.2563T>A (p.Leu855Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294197T>C | CA149212 | NSD1 | c.5956T>C (p.Leu1986=) c.1471T>C (p.Leu491=) n.6412T>C n.1245T>C c.6520T>C (p.Leu2174=) n.6226T>C c.6829T>C (p.Leu2277=) c.6022T>C (p.Leu2008=) c.2323T>C (p.Leu775=) c.6409T>C (p.Leu2137=) c.5773T>C (p.Leu1925=) c.2563T>C (p.Leu855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294197T>G | CA362326232 | NSD1 | c.5956T>G (p.Leu1986Val) c.1471T>G (p.Leu491Val) n.6412T>G n.1245T>G c.6520T>G (p.Leu2174Val) n.6226T>G c.6829T>G (p.Leu2277Val) c.6022T>G (p.Leu2008Val) c.2323T>G (p.Leu775Val) c.6409T>G (p.Leu2137Val) c.5773T>G (p.Leu1925Val) c.2563T>G (p.Leu855Val) | dbSNP |
5 | g.177294197T= | CA1603535919 | NSD1 | c.5956T= (p.Leu1986=) c.1471T= (p.Leu491=) n.6412T= n.1245T= c.6520T= (p.Leu2174=) n.6226T= c.6829T= (p.Leu2277=) c.6022T= (p.Leu2008=) c.2323T= (p.Leu775=) c.6409T= (p.Leu2137=) c.5773T= (p.Leu1925=) c.2563T= (p.Leu855=) | |
5 | g.177294198T>A | CA362326241 | NSD1 | c.5957T>A (p.Leu1986Ter) c.1472T>A (p.Leu491Ter) n.6413T>A n.1246T>A c.6521T>A (p.Leu2174Ter) n.6227T>A c.6830T>A (p.Leu2277Ter) c.6023T>A (p.Leu2008Ter) c.2324T>A (p.Leu775Ter) c.6410T>A (p.Leu2137Ter) c.5774T>A (p.Leu1925Ter) c.2564T>A (p.Leu855Ter) | |
5 | g.177294198T>C | CA362326245 | NSD1 | c.5957T>C (p.Leu1986Ser) c.1472T>C (p.Leu491Ser) n.6413T>C n.1246T>C c.6521T>C (p.Leu2174Ser) n.6227T>C c.6830T>C (p.Leu2277Ser) c.6023T>C (p.Leu2008Ser) c.2324T>C (p.Leu775Ser) c.6410T>C (p.Leu2137Ser) c.5774T>C (p.Leu1925Ser) c.2564T>C (p.Leu855Ser) | |
5 | g.177294198T>G | CA362326248 | NSD1 | c.5957T>G (p.Leu1986Trp) c.1472T>G (p.Leu491Trp) n.6413T>G n.1246T>G c.6521T>G (p.Leu2174Trp) n.6227T>G c.6830T>G (p.Leu2277Trp) c.6023T>G (p.Leu2008Trp) c.2324T>G (p.Leu775Trp) c.6410T>G (p.Leu2137Trp) c.5774T>G (p.Leu1925Trp) c.2564T>G (p.Leu855Trp) | |
5 | g.177294199G>A | CA447961905 | NSD1 | c.5958G>A (p.Leu1986=) c.1473G>A (p.Leu491=) n.6414G>A n.1247G>A c.6522G>A (p.Leu2174=) n.6228G>A c.6831G>A (p.Leu2277=) c.6024G>A (p.Leu2008=) c.2325G>A (p.Leu775=) c.6411G>A (p.Leu2137=) c.5775G>A (p.Leu1925=) c.2565G>A (p.Leu855=) | gnomAD v4 |
5 | g.177294199G>C | CA362326252 | NSD1 | c.5958G>C (p.Leu1986Phe) c.1473G>C (p.Leu491Phe) n.6414G>C n.1247G>C c.6522G>C (p.Leu2174Phe) n.6228G>C c.6831G>C (p.Leu2277Phe) c.6024G>C (p.Leu2008Phe) c.2325G>C (p.Leu775Phe) c.6411G>C (p.Leu2137Phe) c.5775G>C (p.Leu1925Phe) c.2565G>C (p.Leu855Phe) | |
5 | g.177294199G>T | CA362326253 | NSD1 | c.5958G>T (p.Leu1986Phe) c.1473G>T (p.Leu491Phe) n.6414G>T n.1247G>T c.6522G>T (p.Leu2174Phe) n.6228G>T c.6831G>T (p.Leu2277Phe) c.6024G>T (p.Leu2008Phe) c.2325G>T (p.Leu775Phe) c.6411G>T (p.Leu2137Phe) c.5775G>T (p.Leu1925Phe) c.2565G>T (p.Leu855Phe) | |
5 | g.177294200C>A | CA362326259 | NSD1 | c.5959C>A (p.Leu1987Ile) c.1474C>A (p.Leu492Ile) n.6415C>A n.1248C>A c.6523C>A (p.Leu2175Ile) n.6229C>A c.6832C>A (p.Leu2278Ile) c.6025C>A (p.Leu2009Ile) c.2326C>A (p.Leu776Ile) c.6412C>A (p.Leu2138Ile) c.5776C>A (p.Leu1926Ile) c.2566C>A (p.Leu856Ile) | dbSNP |
5 | g.177294200C= | CA1603535926 | NSD1 | c.5959C= (p.Leu1987=) c.1474C= (p.Leu492=) n.6415C= n.1248C= c.6523C= (p.Leu2175=) n.6229C= c.6832C= (p.Leu2278=) c.6025C= (p.Leu2009=) c.2326C= (p.Leu776=) c.6412C= (p.Leu2138=) c.5776C= (p.Leu1926=) c.2566C= (p.Leu856=) | |
5 | g.177294200C>G | CA362326261 | NSD1 | c.5959C>G (p.Leu1987Val) c.1474C>G (p.Leu492Val) n.6415C>G n.1248C>G c.6523C>G (p.Leu2175Val) n.6229C>G c.6832C>G (p.Leu2278Val) c.6025C>G (p.Leu2009Val) c.2326C>G (p.Leu776Val) c.6412C>G (p.Leu2138Val) c.5776C>G (p.Leu1926Val) c.2566C>G (p.Leu856Val) | |
5 | g.177294200C>T | CA3578049 | NSD1 | c.5959C>T (p.Leu1987=) c.1474C>T (p.Leu492=) n.6415C>T n.1248C>T c.6523C>T (p.Leu2175=) n.6229C>T c.6832C>T (p.Leu2278=) c.6025C>T (p.Leu2009=) c.2326C>T (p.Leu776=) c.6412C>T (p.Leu2138=) c.5776C>T (p.Leu1926=) c.2566C>T (p.Leu856=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294201T>A | CA362326267 | NSD1 | c.5960T>A (p.Leu1987Gln) c.1475T>A (p.Leu492Gln) n.6416T>A n.1249T>A c.6524T>A (p.Leu2175Gln) n.6230T>A c.6833T>A (p.Leu2278Gln) c.6026T>A (p.Leu2009Gln) c.2327T>A (p.Leu776Gln) c.6413T>A (p.Leu2138Gln) c.5777T>A (p.Leu1926Gln) c.2567T>A (p.Leu856Gln) | gnomAD v4 |
5 | g.177294201T>C | CA362326271 | NSD1 | c.5960T>C (p.Leu1987Pro) c.1475T>C (p.Leu492Pro) n.6416T>C n.1249T>C c.6524T>C (p.Leu2175Pro) n.6230T>C c.6833T>C (p.Leu2278Pro) c.6026T>C (p.Leu2009Pro) c.2327T>C (p.Leu776Pro) c.6413T>C (p.Leu2138Pro) c.5777T>C (p.Leu1926Pro) c.2567T>C (p.Leu856Pro) | |
5 | g.177294201T>G | CA362326280 | NSD1 | c.5960T>G (p.Leu1987Arg) c.1475T>G (p.Leu492Arg) n.6416T>G n.1249T>G c.6524T>G (p.Leu2175Arg) n.6230T>G c.6833T>G (p.Leu2278Arg) c.6026T>G (p.Leu2009Arg) c.2327T>G (p.Leu776Arg) c.6413T>G (p.Leu2138Arg) c.5777T>G (p.Leu1926Arg) c.2567T>G (p.Leu856Arg) | |
5 | g.177294202A= | CA1603535931 | NSD1 | c.5961A= (p.Leu1987=) c.1476A= (p.Leu492=) n.6417A= n.1250A= c.6525A= (p.Leu2175=) n.6231A= c.6834A= (p.Leu2278=) c.6027A= (p.Leu2009=) c.2328A= (p.Leu776=) c.6414A= (p.Leu2138=) c.5778A= (p.Leu1926=) c.2568A= (p.Leu856=) | |
5 | g.177294202A>C | CA447961910 | NSD1 | c.5961A>C (p.Leu1987=) c.1476A>C (p.Leu492=) n.6417A>C n.1250A>C c.6525A>C (p.Leu2175=) n.6231A>C c.6834A>C (p.Leu2278=) c.6027A>C (p.Leu2009=) c.2328A>C (p.Leu776=) c.6414A>C (p.Leu2138=) c.5778A>C (p.Leu1926=) c.2568A>C (p.Leu856=) | dbSNP gnomAD v2 |
5 | g.177294202A>G | CA447961911 | NSD1 | c.5961A>G (p.Leu1987=) c.1476A>G (p.Leu492=) n.6417A>G n.1250A>G c.6525A>G (p.Leu2175=) n.6231A>G c.6834A>G (p.Leu2278=) c.6027A>G (p.Leu2009=) c.2328A>G (p.Leu776=) c.6414A>G (p.Leu2138=) c.5778A>G (p.Leu1926=) c.2568A>G (p.Leu856=) | |
5 | g.177294202A>T | CA447961912 | NSD1 | c.5961A>T (p.Leu1987=) c.1476A>T (p.Leu492=) n.6417A>T n.1250A>T c.6525A>T (p.Leu2175=) n.6231A>T c.6834A>T (p.Leu2278=) c.6027A>T (p.Leu2009=) c.2328A>T (p.Leu776=) c.6414A>T (p.Leu2138=) c.5778A>T (p.Leu1926=) c.2568A>T (p.Leu856=) | gnomAD v4 |
5 | g.177294203C>A | CA362326300 | NSD1 | c.5962C>A (p.Pro1988Thr) c.1477C>A (p.Pro493Thr) n.6418C>A n.1251C>A c.6526C>A (p.Pro2176Thr) n.6232C>A c.6835C>A (p.Pro2279Thr) c.6028C>A (p.Pro2010Thr) c.2329C>A (p.Pro777Thr) c.6415C>A (p.Pro2139Thr) c.5779C>A (p.Pro1927Thr) c.2569C>A (p.Pro857Thr) | dbSNP |
5 | g.177294203C= | CA1603535934 | NSD1 | c.5962C= (p.Pro1988=) c.1477C= (p.Pro493=) n.6418C= n.1251C= c.6526C= (p.Pro2176=) n.6232C= c.6835C= (p.Pro2279=) c.6028C= (p.Pro2010=) c.2329C= (p.Pro777=) c.6415C= (p.Pro2139=) c.5779C= (p.Pro1927=) c.2569C= (p.Pro857=) | |
5 | g.177294203C>G | CA362326302 | NSD1 | c.5962C>G (p.Pro1988Ala) c.1477C>G (p.Pro493Ala) n.6418C>G n.1251C>G c.6526C>G (p.Pro2176Ala) n.6232C>G c.6835C>G (p.Pro2279Ala) c.6028C>G (p.Pro2010Ala) c.2329C>G (p.Pro777Ala) c.6415C>G (p.Pro2139Ala) c.5779C>G (p.Pro1927Ala) c.2569C>G (p.Pro857Ala) | |
5 | g.177294203C>T | CA362326284 | NSD1 | c.5962C>T (p.Pro1988Ser) c.1477C>T (p.Pro493Ser) n.6418C>T n.1251C>T c.6526C>T (p.Pro2176Ser) n.6232C>T c.6835C>T (p.Pro2279Ser) c.6028C>T (p.Pro2010Ser) c.2329C>T (p.Pro777Ser) c.6415C>T (p.Pro2139Ser) c.5779C>T (p.Pro1927Ser) c.2569C>T (p.Pro857Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294204C>A | CA362326315 | NSD1 | c.5963C>A (p.Pro1988His) c.1478C>A (p.Pro493His) n.6419C>A n.1252C>A c.6527C>A (p.Pro2176His) n.6233C>A c.6836C>A (p.Pro2279His) c.6029C>A (p.Pro2010His) c.2330C>A (p.Pro777His) c.6416C>A (p.Pro2139His) c.5780C>A (p.Pro1927His) c.2570C>A (p.Pro857His) | dbSNP |
5 | g.177294204C= | CA1603535937 | NSD1 | c.5963C= (p.Pro1988=) c.1478C= (p.Pro493=) n.6419C= n.1252C= c.6527C= (p.Pro2176=) n.6233C= c.6836C= (p.Pro2279=) c.6029C= (p.Pro2010=) c.2330C= (p.Pro777=) c.6416C= (p.Pro2139=) c.5780C= (p.Pro1927=) c.2570C= (p.Pro857=) | |
5 | g.177294204C>G | CA362326319 | NSD1 | c.5963C>G (p.Pro1988Arg) c.1478C>G (p.Pro493Arg) n.6419C>G n.1252C>G c.6527C>G (p.Pro2176Arg) n.6233C>G c.6836C>G (p.Pro2279Arg) c.6029C>G (p.Pro2010Arg) c.2330C>G (p.Pro777Arg) c.6416C>G (p.Pro2139Arg) c.5780C>G (p.Pro1927Arg) c.2570C>G (p.Pro857Arg) | |
5 | g.177294204C>T | CA362326320 | NSD1 | c.5963C>T (p.Pro1988Leu) c.1478C>T (p.Pro493Leu) n.6419C>T n.1252C>T c.6527C>T (p.Pro2176Leu) n.6233C>T c.6836C>T (p.Pro2279Leu) c.6029C>T (p.Pro2010Leu) c.2330C>T (p.Pro777Leu) c.6416C>T (p.Pro2139Leu) c.5780C>T (p.Pro1927Leu) c.2570C>T (p.Pro857Leu) | ClinVar dbSNP |
5 | g.177294205T>A | CA447961919 | NSD1 | c.5964T>A (p.Pro1988=) c.1479T>A (p.Pro493=) n.6420T>A n.1253T>A c.6528T>A (p.Pro2176=) n.6234T>A c.6837T>A (p.Pro2279=) c.6030T>A (p.Pro2010=) c.2331T>A (p.Pro777=) c.6417T>A (p.Pro2139=) c.5781T>A (p.Pro1927=) c.2571T>A (p.Pro857=) | |
5 | g.177294205T>C | CA447961920 | NSD1 | c.5964T>C (p.Pro1988=) c.1479T>C (p.Pro493=) n.6420T>C n.1253T>C c.6528T>C (p.Pro2176=) n.6234T>C c.6837T>C (p.Pro2279=) c.6030T>C (p.Pro2010=) c.2331T>C (p.Pro777=) c.6417T>C (p.Pro2139=) c.5781T>C (p.Pro1927=) c.2571T>C (p.Pro857=) | dbSNP |
5 | g.177294205T>G | CA447961922 | NSD1 | c.5964T>G (p.Pro1988=) c.1479T>G (p.Pro493=) n.6420T>G n.1253T>G c.6528T>G (p.Pro2176=) n.6234T>G c.6837T>G (p.Pro2279=) c.6030T>G (p.Pro2010=) c.2331T>G (p.Pro777=) c.6417T>G (p.Pro2139=) c.5781T>G (p.Pro1927=) c.2571T>G (p.Pro857=) | |
5 | g.177294206G>A | CA362326327 | NSD1 | c.5965G>A (p.Glu1989Lys) c.1480G>A (p.Glu494Lys) n.6421G>A n.1254G>A c.6529G>A (p.Glu2177Lys) n.6235G>A c.6838G>A (p.Glu2280Lys) c.6031G>A (p.Glu2011Lys) c.2332G>A (p.Glu778Lys) c.6418G>A (p.Glu2140Lys) c.5782G>A (p.Glu1928Lys) c.2572G>A (p.Glu858Lys) | |
5 | g.177294206G>C | CA362326330 | NSD1 | c.5965G>C (p.Glu1989Gln) c.1480G>C (p.Glu494Gln) n.6421G>C n.1254G>C c.6529G>C (p.Glu2177Gln) n.6235G>C c.6838G>C (p.Glu2280Gln) c.6031G>C (p.Glu2011Gln) c.2332G>C (p.Glu778Gln) c.6418G>C (p.Glu2140Gln) c.5782G>C (p.Glu1928Gln) c.2572G>C (p.Glu858Gln) | |
5 | g.177294206G>T | CA362326336 | NSD1 | c.5965G>T (p.Glu1989Ter) c.1480G>T (p.Glu494Ter) n.6421G>T n.1254G>T c.6529G>T (p.Glu2177Ter) n.6235G>T c.6838G>T (p.Glu2280Ter) c.6031G>T (p.Glu2011Ter) c.2332G>T (p.Glu778Ter) c.6418G>T (p.Glu2140Ter) c.5782G>T (p.Glu1928Ter) c.2572G>T (p.Glu858Ter) | |
5 | g.177294207A>C | CA362326338 | NSD1 | c.5966A>C (p.Glu1989Ala) c.1481A>C (p.Glu494Ala) n.6422A>C n.1255A>C c.6530A>C (p.Glu2177Ala) n.6236A>C c.6839A>C (p.Glu2280Ala) c.6032A>C (p.Glu2011Ala) c.2333A>C (p.Glu778Ala) c.6419A>C (p.Glu2140Ala) c.5783A>C (p.Glu1928Ala) c.2573A>C (p.Glu858Ala) | |
5 | g.177294207A>G | CA362326344 | NSD1 | c.5966A>G (p.Glu1989Gly) c.1481A>G (p.Glu494Gly) n.6422A>G n.1255A>G c.6530A>G (p.Glu2177Gly) n.6236A>G c.6839A>G (p.Glu2280Gly) c.6032A>G (p.Glu2011Gly) c.2333A>G (p.Glu778Gly) c.6419A>G (p.Glu2140Gly) c.5783A>G (p.Glu1928Gly) c.2573A>G (p.Glu858Gly) | |
5 | g.177294207A>T | CA362326341 | NSD1 | c.5966A>T (p.Glu1989Val) c.1481A>T (p.Glu494Val) n.6422A>T n.1255A>T c.6530A>T (p.Glu2177Val) n.6236A>T c.6839A>T (p.Glu2280Val) c.6032A>T (p.Glu2011Val) c.2333A>T (p.Glu778Val) c.6419A>T (p.Glu2140Val) c.5783A>T (p.Glu1928Val) c.2573A>T (p.Glu858Val) | |
5 | g.177294208A>C | CA362326350 | NSD1 | c.5967A>C (p.Glu1989Asp) c.1482A>C (p.Glu494Asp) n.6423A>C n.1256A>C c.6531A>C (p.Glu2177Asp) n.6237A>C c.6840A>C (p.Glu2280Asp) c.6033A>C (p.Glu2011Asp) c.2334A>C (p.Glu778Asp) c.6420A>C (p.Glu2140Asp) c.5784A>C (p.Glu1928Asp) c.2574A>C (p.Glu858Asp) | |
5 | g.177294208A>G | CA447961927 | NSD1 | c.5967A>G (p.Glu1989=) c.1482A>G (p.Glu494=) n.6423A>G n.1256A>G c.6531A>G (p.Glu2177=) n.6237A>G c.6840A>G (p.Glu2280=) c.6033A>G (p.Glu2011=) c.2334A>G (p.Glu778=) c.6420A>G (p.Glu2140=) c.5784A>G (p.Glu1928=) c.2574A>G (p.Glu858=) | |
5 | g.177294208A>T | CA362326356 | NSD1 | c.5967A>T (p.Glu1989Asp) c.1482A>T (p.Glu494Asp) n.6423A>T n.1256A>T c.6531A>T (p.Glu2177Asp) n.6237A>T c.6840A>T (p.Glu2280Asp) c.6033A>T (p.Glu2011Asp) c.2334A>T (p.Glu778Asp) c.6420A>T (p.Glu2140Asp) c.5784A>T (p.Glu1928Asp) c.2574A>T (p.Glu858Asp) | |
5 | g.177294209A>C | CA447961928 | NSD1 | c.5968A>C (p.Arg1990=) c.1483A>C (p.Arg495=) n.6424A>C n.1257A>C c.6532A>C (p.Arg2178=) n.6238A>C c.6841A>C (p.Arg2281=) c.6034A>C (p.Arg2012=) c.2335A>C (p.Arg779=) c.6421A>C (p.Arg2141=) c.5785A>C (p.Arg1929=) c.2575A>C (p.Arg859=) | |
5 | g.177294209A>G | CA362326363 | NSD1 | c.5968A>G (p.Arg1990Gly) c.1483A>G (p.Arg495Gly) n.6424A>G n.1257A>G c.6532A>G (p.Arg2178Gly) n.6238A>G c.6841A>G (p.Arg2281Gly) c.6034A>G (p.Arg2012Gly) c.2335A>G (p.Arg779Gly) c.6421A>G (p.Arg2141Gly) c.5785A>G (p.Arg1929Gly) c.2575A>G (p.Arg859Gly) | |
5 | g.177294209A>T | CA362326367 | NSD1 | c.5968A>T (p.Arg1990Ter) c.1483A>T (p.Arg495Ter) n.6424A>T n.1257A>T c.6532A>T (p.Arg2178Ter) n.6238A>T c.6841A>T (p.Arg2281Ter) c.6034A>T (p.Arg2012Ter) c.2335A>T (p.Arg779Ter) c.6421A>T (p.Arg2141Ter) c.5785A>T (p.Arg1929Ter) c.2575A>T (p.Arg859Ter) | |
5 | g.177294210G>A | CA362326376 | NSD1 | c.5969G>A (p.Arg1990Lys) c.1484G>A (p.Arg495Lys) n.6425G>A n.1258G>A c.6533G>A (p.Arg2178Lys) n.6239G>A c.6842G>A (p.Arg2281Lys) c.6035G>A (p.Arg2012Lys) c.2336G>A (p.Arg779Lys) c.6422G>A (p.Arg2141Lys) c.5786G>A (p.Arg1929Lys) c.2576G>A (p.Arg859Lys) | dbSNP |
5 | g.177294210G>C | CA362326375 | NSD1 | c.5969G>C (p.Arg1990Thr) c.1484G>C (p.Arg495Thr) n.6425G>C n.1258G>C c.6533G>C (p.Arg2178Thr) n.6239G>C c.6842G>C (p.Arg2281Thr) c.6035G>C (p.Arg2012Thr) c.2336G>C (p.Arg779Thr) c.6422G>C (p.Arg2141Thr) c.5786G>C (p.Arg1929Thr) c.2576G>C (p.Arg859Thr) | dbSNP |
5 | g.177294210G>T | CA362326371 | NSD1 | c.5969G>T (p.Arg1990Ile) c.1484G>T (p.Arg495Ile) n.6425G>T n.1258G>T c.6533G>T (p.Arg2178Ile) n.6239G>T c.6842G>T (p.Arg2281Ile) c.6035G>T (p.Arg2012Ile) c.2336G>T (p.Arg779Ile) c.6422G>T (p.Arg2141Ile) c.5786G>T (p.Arg1929Ile) c.2576G>T (p.Arg859Ile) | |
5 | g.177294211A>C | CA362326377 | NSD1 | c.5970A>C (p.Arg1990Ser) c.1485A>C (p.Arg495Ser) n.6426A>C n.1259A>C c.6534A>C (p.Arg2178Ser) n.6240A>C c.6843A>C (p.Arg2281Ser) c.6036A>C (p.Arg2012Ser) c.2337A>C (p.Arg779Ser) c.6423A>C (p.Arg2141Ser) c.5787A>C (p.Arg1929Ser) c.2577A>C (p.Arg859Ser) | |
5 | g.177294211A>G | CA447961931 | NSD1 | c.5970A>G (p.Arg1990=) c.1485A>G (p.Arg495=) n.6426A>G n.1259A>G c.6534A>G (p.Arg2178=) n.6240A>G c.6843A>G (p.Arg2281=) c.6036A>G (p.Arg2012=) c.2337A>G (p.Arg779=) c.6423A>G (p.Arg2141=) c.5787A>G (p.Arg1929=) c.2577A>G (p.Arg859=) | |
5 | g.177294211A>T | CA362326378 | NSD1 | c.5970A>T (p.Arg1990Ser) c.1485A>T (p.Arg495Ser) n.6426A>T n.1259A>T c.6534A>T (p.Arg2178Ser) n.6240A>T c.6843A>T (p.Arg2281Ser) c.6036A>T (p.Arg2012Ser) c.2337A>T (p.Arg779Ser) c.6423A>T (p.Arg2141Ser) c.5787A>T (p.Arg1929Ser) c.2577A>T (p.Arg859Ser) | |
5 | g.177294212C>A | CA362326381 | NSD1 | c.5971C>A (p.Pro1991Thr) c.1486C>A (p.Pro496Thr) n.6427C>A n.1260C>A c.6535C>A (p.Pro2179Thr) n.6241C>A c.6844C>A (p.Pro2282Thr) c.6037C>A (p.Pro2013Thr) c.2338C>A (p.Pro780Thr) c.6424C>A (p.Pro2142Thr) c.5788C>A (p.Pro1930Thr) c.2578C>A (p.Pro860Thr) | |
5 | g.177294212C>G | CA362326384 | NSD1 | c.5971C>G (p.Pro1991Ala) c.1486C>G (p.Pro496Ala) n.6427C>G n.1260C>G c.6535C>G (p.Pro2179Ala) n.6241C>G c.6844C>G (p.Pro2282Ala) c.6037C>G (p.Pro2013Ala) c.2338C>G (p.Pro780Ala) c.6424C>G (p.Pro2142Ala) c.5788C>G (p.Pro1930Ala) c.2578C>G (p.Pro860Ala) | |
5 | g.177294212C>T | CA362326387 | NSD1 | c.5971C>T (p.Pro1991Ser) c.1486C>T (p.Pro496Ser) n.6427C>T n.1260C>T c.6535C>T (p.Pro2179Ser) n.6241C>T c.6844C>T (p.Pro2282Ser) c.6037C>T (p.Pro2013Ser) c.2338C>T (p.Pro780Ser) c.6424C>T (p.Pro2142Ser) c.5788C>T (p.Pro1930Ser) c.2578C>T (p.Pro860Ser) | |
5 | g.177294212_177294228delinsCCTCTTGAGAGAACTGA | CA1603535941 | NSD1 | c.5971_5987delinsCCTCTTGAGAGAACTGA (p.Pro1991=) c.1486_1502delinsCCTCTTGAGAGAACTGA (p.Pro496=) n.6427_6443delinsCCTCTTGAGAGAACTGA n.1260_1276delinsCCTCTTGAGAGAACTGA c.6535_6551delinsCCTCTTGAGAGAACTGA (p.Pro2179=) n.6241_6257delinsCCTCTTGAGAGAACTGA c.6844_6860delinsCCTCTTGAGAGAACTGA (p.Pro2282=) c.6037_6053delinsCCTCTTGAGAGAACTGA (p.Pro2013=) c.2338_2354delinsCCTCTTGAGAGAACTGA (p.Pro780=) c.6424_6440delinsCCTCTTGAGAGAACTGA (p.Pro2142=) c.5788_5804delinsCCTCTTGAGAGAACTGA (p.Pro1930=) c.2578_2594delinsCCTCTTGAGAGAACTGA (p.Pro860=) | |
5 | g.177294213C>A | CA362326391 | NSD1 | c.5972C>A (p.Pro1991His) c.1487C>A (p.Pro496His) n.6428C>A n.1261C>A c.6536C>A (p.Pro2179His) n.6242C>A c.6845C>A (p.Pro2282His) c.6038C>A (p.Pro2013His) c.2339C>A (p.Pro780His) c.6425C>A (p.Pro2142His) c.5789C>A (p.Pro1930His) c.2579C>A (p.Pro860His) | |
5 | g.177294213C= | CA1603535949 | NSD1 | c.5972C= (p.Pro1991=) c.1487C= (p.Pro496=) n.6428C= n.1261C= c.6536C= (p.Pro2179=) n.6242C= c.6845C= (p.Pro2282=) c.6038C= (p.Pro2013=) c.2339C= (p.Pro780=) c.6425C= (p.Pro2142=) c.5789C= (p.Pro1930=) c.2579C= (p.Pro860=) | |
5 | g.177294213C>G | CA3578050 | NSD1 | c.5972C>G (p.Pro1991Arg) c.1487C>G (p.Pro496Arg) n.6428C>G n.1261C>G c.6536C>G (p.Pro2179Arg) n.6242C>G c.6845C>G (p.Pro2282Arg) c.6038C>G (p.Pro2013Arg) c.2339C>G (p.Pro780Arg) c.6425C>G (p.Pro2142Arg) c.5789C>G (p.Pro1930Arg) c.2579C>G (p.Pro860Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294213C>T | CA362326399 | NSD1 | c.5972C>T (p.Pro1991Leu) c.1487C>T (p.Pro496Leu) n.6428C>T n.1261C>T c.6536C>T (p.Pro2179Leu) n.6242C>T c.6845C>T (p.Pro2282Leu) c.6038C>T (p.Pro2013Leu) c.2339C>T (p.Pro780Leu) c.6425C>T (p.Pro2142Leu) c.5789C>T (p.Pro1930Leu) c.2579C>T (p.Pro860Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.177294216_177294231del | CA564898970 | NSD1 | c.5975_5990del (p.Leu1992ProfsTer6) c.1490_1505del (p.Leu497ProfsTer6) n.6431_6446del n.1264_1279del c.6539_6554del (p.Leu2180ProfsTer6) n.6245_6260del c.6848_6863del (p.Leu2283ProfsTer6) c.6041_6056del (p.Leu2014ProfsTer6) c.2342_2357del (p.Leu781ProfsTer6) c.6428_6443del (p.Leu2143ProfsTer6) c.5792_5807del (p.Leu1931ProfsTer6) c.2582_2597del (p.Leu861ProfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.177294214T>A | CA447961935 | NSD1 | c.5973T>A (p.Pro1991=) c.1488T>A (p.Pro496=) n.6429T>A n.1262T>A c.6537T>A (p.Pro2179=) n.6243T>A c.6846T>A (p.Pro2282=) c.6039T>A (p.Pro2013=) c.2340T>A (p.Pro780=) c.6426T>A (p.Pro2142=) c.5790T>A (p.Pro1930=) c.2580T>A (p.Pro860=) | |
5 | g.177294214T>C | CA447961937 | NSD1 | c.5973T>C (p.Pro1991=) c.1488T>C (p.Pro496=) n.6429T>C n.1262T>C c.6537T>C (p.Pro2179=) n.6243T>C c.6846T>C (p.Pro2282=) c.6039T>C (p.Pro2013=) c.2340T>C (p.Pro780=) c.6426T>C (p.Pro2142=) c.5790T>C (p.Pro1930=) c.2580T>C (p.Pro860=) | |
5 | g.177294214T>G | CA447961938 | NSD1 | c.5973T>G (p.Pro1991=) c.1488T>G (p.Pro496=) n.6429T>G n.1262T>G c.6537T>G (p.Pro2179=) n.6243T>G c.6846T>G (p.Pro2282=) c.6039T>G (p.Pro2013=) c.2340T>G (p.Pro780=) c.6426T>G (p.Pro2142=) c.5790T>G (p.Pro1930=) c.2580T>G (p.Pro860=) | |
5 | g.177294215C>A | CA362326406 | NSD1 | c.5974C>A (p.Leu1992Ile) c.1489C>A (p.Leu497Ile) n.6430C>A n.1263C>A c.6538C>A (p.Leu2180Ile) n.6244C>A c.6847C>A (p.Leu2283Ile) c.6040C>A (p.Leu2014Ile) c.2341C>A (p.Leu781Ile) c.6427C>A (p.Leu2143Ile) c.5791C>A (p.Leu1931Ile) c.2581C>A (p.Leu861Ile) | |
5 | g.177294215C>G | CA362326409 | NSD1 | c.5974C>G (p.Leu1992Val) c.1489C>G (p.Leu497Val) n.6430C>G n.1263C>G c.6538C>G (p.Leu2180Val) n.6244C>G c.6847C>G (p.Leu2283Val) c.6040C>G (p.Leu2014Val) c.2341C>G (p.Leu781Val) c.6427C>G (p.Leu2143Val) c.5791C>G (p.Leu1931Val) c.2581C>G (p.Leu861Val) | dbSNP |
5 | g.177294215C>T | CA362326412 | NSD1 | c.5974C>T (p.Leu1992Phe) c.1489C>T (p.Leu497Phe) n.6430C>T n.1263C>T c.6538C>T (p.Leu2180Phe) n.6244C>T c.6847C>T (p.Leu2283Phe) c.6040C>T (p.Leu2014Phe) c.2341C>T (p.Leu781Phe) c.6427C>T (p.Leu2143Phe) c.5791C>T (p.Leu1931Phe) c.2581C>T (p.Leu861Phe) | |
5 | g.177294216T>A | CA362326415 | NSD1 | c.5975T>A (p.Leu1992His) c.1490T>A (p.Leu497His) n.6431T>A n.1264T>A c.6539T>A (p.Leu2180His) n.6245T>A c.6848T>A (p.Leu2283His) c.6041T>A (p.Leu2014His) c.2342T>A (p.Leu781His) c.6428T>A (p.Leu2143His) c.5792T>A (p.Leu1931His) c.2582T>A (p.Leu861His) | |
5 | g.177294216T>C | CA3578051 | NSD1 | c.5975T>C (p.Leu1992Pro) c.1490T>C (p.Leu497Pro) n.6431T>C n.1264T>C c.6539T>C (p.Leu2180Pro) n.6245T>C c.6848T>C (p.Leu2283Pro) c.6041T>C (p.Leu2014Pro) c.2342T>C (p.Leu781Pro) c.6428T>C (p.Leu2143Pro) c.5792T>C (p.Leu1931Pro) c.2582T>C (p.Leu861Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177294216T>G | CA362326420 | NSD1 | c.5975T>G (p.Leu1992Arg) c.1490T>G (p.Leu497Arg) n.6431T>G n.1264T>G c.6539T>G (p.Leu2180Arg) n.6245T>G c.6848T>G (p.Leu2283Arg) c.6041T>G (p.Leu2014Arg) c.2342T>G (p.Leu781Arg) c.6428T>G (p.Leu2143Arg) c.5792T>G (p.Leu1931Arg) c.2582T>G (p.Leu861Arg) | |
5 | g.177294216T= | CA1603535959 | NSD1 | c.5975T= (p.Leu1992=) c.1490T= (p.Leu497=) n.6431T= n.1264T= c.6539T= (p.Leu2180=) n.6245T= c.6848T= (p.Leu2283=) c.6041T= (p.Leu2014=) c.2342T= (p.Leu781=) c.6428T= (p.Leu2143=) c.5792T= (p.Leu1931=) c.2582T= (p.Leu861=) | |
5 | g.177294217T>A | CA447961941 | NSD1 | c.5976T>A (p.Leu1992=) c.1491T>A (p.Leu497=) n.6432T>A n.1265T>A c.6540T>A (p.Leu2180=) n.6246T>A c.6849T>A (p.Leu2283=) c.6042T>A (p.Leu2014=) c.2343T>A (p.Leu781=) c.6429T>A (p.Leu2143=) c.5793T>A (p.Leu1931=) c.2583T>A (p.Leu861=) | |
5 | g.177294217T>C | CA3578052 | NSD1 | c.5976T>C (p.Leu1992=) c.1491T>C (p.Leu497=) n.6432T>C n.1265T>C c.6540T>C (p.Leu2180=) n.6246T>C c.6849T>C (p.Leu2283=) c.6042T>C (p.Leu2014=) c.2343T>C (p.Leu781=) c.6429T>C (p.Leu2143=) c.5793T>C (p.Leu1931=) c.2583T>C (p.Leu861=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177294217T>G | CA447961942 | NSD1 | c.5976T>G (p.Leu1992=) c.1491T>G (p.Leu497=) n.6432T>G n.1265T>G c.6540T>G (p.Leu2180=) n.6246T>G c.6849T>G (p.Leu2283=) c.6042T>G (p.Leu2014=) c.2343T>G (p.Leu781=) c.6429T>G (p.Leu2143=) c.5793T>G (p.Leu1931=) c.2583T>G (p.Leu861=) | |
5 | g.177294217T= | CA1603535965 | NSD1 | c.5976T= (p.Leu1992=) c.1491T= (p.Leu497=) n.6432T= n.1265T= c.6540T= (p.Leu2180=) n.6246T= c.6849T= (p.Leu2283=) c.6042T= (p.Leu2014=) c.2343T= (p.Leu781=) c.6429T= (p.Leu2143=) c.5793T= (p.Leu1931=) c.2583T= (p.Leu861=) | |
5 | g.177294218G>A | CA362326427 | NSD1 | c.5977G>A (p.Glu1993Lys) c.1492G>A (p.Glu498Lys) n.6433G>A n.1266G>A c.6541G>A (p.Glu2181Lys) n.6247G>A c.6850G>A (p.Glu2284Lys) c.6043G>A (p.Glu2015Lys) c.2344G>A (p.Glu782Lys) c.6430G>A (p.Glu2144Lys) c.5794G>A (p.Glu1932Lys) c.2584G>A (p.Glu862Lys) | |
5 | g.177294218G>C | CA362326432 | NSD1 | c.5977G>C (p.Glu1993Gln) c.1492G>C (p.Glu498Gln) n.6433G>C n.1266G>C c.6541G>C (p.Glu2181Gln) n.6247G>C c.6850G>C (p.Glu2284Gln) c.6043G>C (p.Glu2015Gln) c.2344G>C (p.Glu782Gln) c.6430G>C (p.Glu2144Gln) c.5794G>C (p.Glu1932Gln) c.2584G>C (p.Glu862Gln) | COSMIC COSMIC |
5 | g.177294218G>T | CA362326430 | NSD1 | c.5977G>T (p.Glu1993Ter) c.1492G>T (p.Glu498Ter) n.6433G>T n.1266G>T c.6541G>T (p.Glu2181Ter) n.6247G>T c.6850G>T (p.Glu2284Ter) c.6043G>T (p.Glu2015Ter) c.2344G>T (p.Glu782Ter) c.6430G>T (p.Glu2144Ter) c.5794G>T (p.Glu1932Ter) c.2584G>T (p.Glu862Ter) | ClinVar COSMIC COSMIC |
5 | g.177294219A>C | CA362326434 | NSD1 | c.5978A>C (p.Glu1993Ala) c.1493A>C (p.Glu498Ala) n.6434A>C n.1267A>C c.6542A>C (p.Glu2181Ala) n.6248A>C c.6851A>C (p.Glu2284Ala) c.6044A>C (p.Glu2015Ala) c.2345A>C (p.Glu782Ala) c.6431A>C (p.Glu2144Ala) c.5795A>C (p.Glu1932Ala) c.2585A>C (p.Glu862Ala) | |
5 | g.177294219A>G | CA362326437 | NSD1 | c.5978A>G (p.Glu1993Gly) c.1493A>G (p.Glu498Gly) n.6434A>G n.1267A>G c.6542A>G (p.Glu2181Gly) n.6248A>G c.6851A>G (p.Glu2284Gly) c.6044A>G (p.Glu2015Gly) c.2345A>G (p.Glu782Gly) c.6431A>G (p.Glu2144Gly) c.5795A>G (p.Glu1932Gly) c.2585A>G (p.Glu862Gly) | |
5 | g.177294219A>T | CA362326440 | NSD1 | c.5978A>T (p.Glu1993Val) c.1493A>T (p.Glu498Val) n.6434A>T n.1267A>T c.6542A>T (p.Glu2181Val) n.6248A>T c.6851A>T (p.Glu2284Val) c.6044A>T (p.Glu2015Val) c.2345A>T (p.Glu782Val) c.6431A>T (p.Glu2144Val) c.5795A>T (p.Glu1932Val) c.2585A>T (p.Glu862Val) |